DROP TABLE IF EXISTS `tdl_info`;
/*!40101 SET @saved_cs_client     = @@character_set_client */;
/*!40101 SET character_set_client = utf8 */;
CREATE TABLE `tdl_info` (
  `id` int(11) NOT NULL AUTO_INCREMENT,
  `itype` varchar(255) COLLATE utf8_unicode_ci NOT NULL,
  `target_id` int(11) DEFAULT NULL,
  `protein_id` int(11) DEFAULT NULL,
  `nucleic_acid_id` int(11) DEFAULT NULL,
  `string_value` text COLLATE utf8_unicode_ci,
  `number_value` decimal(12,6) DEFAULT NULL,
  `integer_value` int(11) DEFAULT NULL,
  `date_value` date DEFAULT NULL,
  `boolean_value` tinyint(1) DEFAULT NULL,
  `curration_level` varchar(50) COLLATE utf8_unicode_ci DEFAULT NULL,
  PRIMARY KEY (`id`),
  KEY `tdl_info_idx1` (`itype`),
  KEY `tdl_info_idx2` (`target_id`),
  KEY `tdl_info_idx3` (`protein_id`),
  CONSTRAINT `fk_tdl_info__info_type` FOREIGN KEY (`itype`) REFERENCES `info_type` (`name`),
  CONSTRAINT `fk_tdl_info__protein` FOREIGN KEY (`protein_id`) REFERENCES `protein` (`id`) ON DELETE CASCADE,
  CONSTRAINT `fk_tdl_info__target` FOREIGN KEY (`target_id`) REFERENCES `target` (`id`) ON DELETE CASCADE
) ENGINE=InnoDB AUTO_INCREMENT=366012 DEFAULT CHARSET=utf8 COLLATE=utf8_unicode_ci;
/*!40101 SET character_set_client = @saved_cs_client */;

--
-- Dumping data for table `tdl_info`
--

LOCK TABLES `tdl_info` WRITE;
/*!40000 ALTER TABLE `tdl_info` DISABLE KEYS */;
INSERT INTO `tdl_info` VALUES (1,'UniProt Function',NULL,1,NULL,'Catalyzes the last step in the trans-sulfuration pathway from methionine to cysteine. Has broad substrate specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine molecules to lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on the levels of the endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and so contributes to the regulation of blood pressure. Acts as a cysteine-protein sulfhydrase by mediating sulfhydration of target proteins: sulfhydration consists of converting -SH groups into -SSH on specific cysteine residues of target proteins such as GAPDH, PTPN1 and NF-kappa-B subunit RELA, thereby regulating their function.',NULL,NULL,NULL,NULL,NULL),(2,'UniProt Function',NULL,4,NULL,'Binds to nonmethylated 5\'-d(CGG)(n)-3\' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter.',NULL,NULL,NULL,NULL,NULL),(3,'UniProt Function',NULL,6,NULL,'ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated with histone deacetylase (HDAC) activity (By similarity). Required for the bridging of SNF2, the FACT complex, the PAF complex as well as the U2 snRNP complex to H3K4me3. Functions to modulate the efficiency of pre-mRNA splicing in part through physical bridging of spliceosomal components to H3K4me3 (PubMed:18042460, PubMed:28866611). Required for maintaining open chromatin and pluripotency in embryonic stem cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(4,'UniProt Function',NULL,7,NULL,'Involved in calcium homeostasis, growth and proliferation.',NULL,NULL,NULL,NULL,NULL),(5,'UniProt Function',NULL,8,NULL,'Calcium-binding protein involved in different processes such as regulation of vesicular trafficking, plasma membrane Na(+)/H(+) exchanger and gene transcription. Involved in the constitutive exocytic membrane traffic. Mediates the association between microtubules and membrane-bound organelles of the endoplasmic reticulum and Golgi apparatus and is also required for the targeting and fusion of transcytotic vesicles (TCV) with the plasma membrane. Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Affects the pH sensitivity of SLC9A1/NHE1 by increasing its sensitivity at acidic pH. Required for the stabilization and localization of SLC9A1/NHE1 at the plasma membrane. Inhibits serum- and GTPase-stimulated Na(+)/H(+) exchange. Plays a role as an inhibitor of ribosomal RNA transcription by repressing the nucleolar UBF1 transcriptional activity. May sequester UBF1 in the nucleoplasm and limit its translocation to the nucleolus. Associates to the ribosomal gene promoter. Acts as a negative regulator of the calcineurin/NFAT signaling pathway. Inhibits NFAT nuclear translocation and transcriptional activity by suppressing the calcium-dependent calcineurin phosphatase activity. Also negatively regulates the kinase activity of the apoptosis-induced kinase STK17B. Inhibits both STK17B auto- and substrate-phosphorylations in a calcium-dependent manner.',NULL,NULL,NULL,NULL,NULL),(6,'UniProt Function',NULL,9,NULL,'Transcription activator. May act as tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(7,'UniProt Function',NULL,11,NULL,'Essential for male fertility. Plays an important role in spermatogenesis and regulates sperm motility by controlling the development of the flagellar bending of sperm.',NULL,NULL,NULL,NULL,NULL),(8,'UniProt Function',NULL,12,NULL,'Putative O-methyltransferase.',NULL,NULL,NULL,NULL,NULL),(9,'UniProt Function',NULL,13,NULL,'Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis (PubMed:14532007). May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Specifically required for decatenation of centromeric ultrafine DNA bridges during anaphase. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959).',NULL,NULL,NULL,NULL,NULL),(10,'UniProt Function',NULL,14,NULL,'S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap2 2\'-O-ribose methylation to the 5\'-cap structure of mRNAs. Methylates the ribose of the second nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) (cap0) to produce m(7)GpppRmpNm (cap2). Recognizes a guanosine cap on RNA independently of its N(7) methylation status. Display cap2 methylation on both cap0 and cap1. Displays a preference for cap1 RNAs.',NULL,NULL,NULL,NULL,NULL),(11,'UniProt Function',NULL,15,NULL,'Prevents the interaction between CTNNB1 and TCF family members, and acts as negative regulator of the Wnt signaling pathway.',NULL,NULL,NULL,NULL,NULL),(12,'UniProt Function',NULL,16,NULL,'Hydrolyzes a variety of dipeptides including L-carnosine but has a strong preference for Cys-Gly (PubMed:19346245). Acts as a functional tumor suppressor in gastric cancer via activation of the mitogen-activated protein kinase (MAPK) pathway. An elevated level of CNDP2 activates the p38 and JNK MAPK pathways to induce cell apoptosis, and a lower level of CNDP2 activates the ERK MAPK pathway to promote cell proliferation (PubMed:24395568). Isoform 2 may play a role as tumor suppressor in hepatocellular carcinoma (HCC) cells (PubMed:17121880). Catalyzes the production of N-lactoyl-amino acids from lactate and amino acids by reverse proteolysis (PubMed:25964343).',NULL,NULL,NULL,NULL,NULL),(13,'UniProt Function',NULL,17,NULL,'Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.',NULL,NULL,NULL,NULL,NULL),(14,'UniProt Function',NULL,18,NULL,'Serine/threonine protein phosphatase forming with CNEP1R1 an active phosphatase complex that dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol. May antagonize BMP signaling.',NULL,NULL,NULL,NULL,NULL),(15,'UniProt Function',NULL,19,NULL,'Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.',NULL,NULL,NULL,NULL,NULL),(16,'UniProt Function',NULL,20,NULL,'May function as an adapter protein or regulator of Ras signaling pathways.',NULL,NULL,NULL,NULL,NULL),(17,'UniProt Function',NULL,21,NULL,'Involved in transepithelial sodium transport. Regulates aldosterone-induced and epithelial sodium channel (ENaC)-mediated sodium transport through regulation of ENaC cell surface expression. Acts as a scaffold protein coordinating the assembly of an ENaC-regulatory complex (ERC).',NULL,NULL,NULL,NULL,NULL),(18,'UniProt Function',NULL,22,NULL,'Involved in the selective transport and maturation of TGF-alpha family proteins.',NULL,NULL,NULL,NULL,NULL),(19,'UniProt Function',NULL,24,NULL,'Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.',NULL,NULL,NULL,NULL,NULL),(20,'UniProt Function',NULL,25,NULL,'Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(21,'UniProt Function',NULL,26,NULL,'Required for targeting of connexins to the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(22,'UniProt Function',NULL,27,NULL,'Binds to CNTF. The alpha subunit provides the receptor specificity.',NULL,NULL,NULL,NULL,NULL),(23,'UniProt Function',NULL,28,NULL,'Required for centrosome cohesion and recruitment of CEP68 to centrosomes.',NULL,NULL,NULL,NULL,NULL),(24,'UniProt Function',NULL,32,NULL,'Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a \'chicken-wire\' meshwork together with laminins, proteoglycans and entactin/nidogen.',NULL,NULL,NULL,NULL,NULL),(25,'UniProt Function',NULL,32,NULL,'Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via RGD-independent ITGB3-mediated mechanisms.',NULL,NULL,NULL,NULL,NULL),(26,'UniProt Function',NULL,33,NULL,'Component C2 which is part of the classical pathway of the complement system is cleaved by activated factor C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor C4b to generate the C3 or C5 convertase.',NULL,NULL,NULL,NULL,NULL),(27,'UniProt Function',NULL,34,NULL,'Macromolecular component of the subendothelium. Major component of the Descemet\'s membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis.',NULL,NULL,NULL,NULL,NULL),(28,'UniProt Function',NULL,34,NULL,'Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell proliferation and causes cell apoptosis.',NULL,NULL,NULL,NULL,NULL),(29,'UniProt Function',NULL,35,NULL,'Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.',NULL,NULL,NULL,NULL,NULL),(30,'UniProt Function',NULL,36,NULL,'Non-enzymatic component of the C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens.',NULL,NULL,NULL,NULL,NULL),(31,'UniProt Function',NULL,36,NULL,'Derived from proteolytic degradation of complement C4, C4a anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.',NULL,NULL,NULL,NULL,NULL),(32,'UniProt Function',NULL,37,NULL,'Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.',NULL,NULL,NULL,NULL,NULL),(33,'UniProt Function',NULL,38,NULL,'Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.',NULL,NULL,NULL,NULL,NULL),(34,'UniProt Function',NULL,40,NULL,'Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells (PubMed:9634479, PubMed:9212048, PubMed:26841934). C9 is the pore-forming subunit of the MAC (PubMed:4055801, PubMed:26841934).',NULL,NULL,NULL,NULL,NULL),(35,'UniProt Function',NULL,41,NULL,'Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for assembly of mitochondrial respiratory chain complex I and complex IV.',NULL,NULL,NULL,NULL,NULL),(36,'UniProt Function',NULL,42,NULL,'Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C7 serves as a membrane anchor.',NULL,NULL,NULL,NULL,NULL),(37,'UniProt Function',NULL,43,NULL,'Amidase that catalyzes the last step of diphthamide biosynthesis using ammonium and ATP. Diphthamide biosynthesis consists in the conversion of an L-histidine residue in the translation elongation factor (EEF2) to diphthamide (By similarity).',NULL,NULL,NULL,NULL,NULL),(38,'UniProt Function',NULL,44,NULL,'Catalyzes the demethylation of diphthine methyl ester to form diphthine, an intermediate diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta).',NULL,NULL,NULL,NULL,NULL),(39,'UniProt Function',NULL,45,NULL,'Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA biosynthesis regulation.',NULL,NULL,NULL,NULL,NULL),(40,'UniProt Function',NULL,46,NULL,'Subunits I, II and III form the functional core of the enzyme complex.',NULL,NULL,NULL,NULL,NULL),(41,'UniProt Function',NULL,47,NULL,'May be involved in cytochrome c oxidase biogenesis.',NULL,NULL,NULL,NULL,NULL),(42,'UniProt Function',NULL,51,NULL,'Plays a key role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA. Capable of both 4-hydroxylation and 18-hydroxylation. Responsible for generation of several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA and 18-OH-RA.',NULL,NULL,NULL,NULL,NULL),(43,'UniProt Function',NULL,51,NULL,'Has also a significant activity in oxidation of tazarotenic acid and may therefore metabolize that xenobiotic in vivo.',NULL,NULL,NULL,NULL,NULL),(44,'UniProt Function',NULL,52,NULL,'Catalyzes a rate-limiting step in cholesterol catabolism and bile acid biosynthesis by introducing a hydrophilic moiety at position 7 of cholesterol. Important for cholesterol homeostasis.',NULL,NULL,NULL,NULL,NULL),(45,'UniProt Function',NULL,53,NULL,'Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Most active in catalyzing 2-hydroxylation. Caffeine is metabolized primarily by cytochrome CYP1A2 in the liver through an initial N3-demethylation. Also acts in the metabolism of aflatoxin B1 and acetaminophen. Participates in the bioactivation of carcinogenic aromatic and heterocyclic amines. Catalizes the N-hydroxylation of heterocyclic amines and the O-deethylation of phenacetin.',NULL,NULL,NULL,NULL,NULL),(46,'UniProt Function',NULL,54,NULL,'Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3\'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (PubMed:9659921, PubMed:8626397, PubMed:14690600, PubMed:15937220, PubMed:17024186, PubMed:17098938, PubMed:29276085). CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3\'-end, so called cleavage and polyadenylation signals (pA signals) (PubMed:9659921, PubMed:8626397, PubMed:14690600, PubMed:17024186). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3\'-end formation (PubMed:17098938, PubMed:23187700, PubMed:29276085). The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5\'-UGUA-3\' elements localized in the 3\'-untranslated region (UTR) for a huge number of pre-mRNAs (PubMed:17098938, PubMed:20695905, PubMed:29276085). NUDT21/CPSF5 activates indirectly the mRNA 3\'-processing machinery by recruiting CPSF6 and/or CPSF7 (PubMed:29276085). Binds to 5\'-UGUA-3\' elements localized upstream of pA signals that act as enhancers of pre-mRNA 3\'-end processing (PubMed:8626397, PubMed:14690600, PubMed:15169763, PubMed:17024186, PubMed:22813749, PubMed:20479262). The homodimer mediates simultaneous sequence-specific recognition of two 5\'-UGUA-3\' elements within the pre-mRNA (PubMed:20479262, PubMed:21295486). Plays a role in somatic cell fate transitions and pluripotency by regulating widespread changes in gene expression through an APA-dependent function (By similarity). Binds to chromatin (By similarity). Binds to, but does not hydrolyze mono- and di-adenosine nucleotides (PubMed:18445629).',NULL,NULL,NULL,NULL,NULL),(47,'UniProt Function',NULL,55,NULL,'Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3-25-hydroxylase activity.',NULL,NULL,NULL,NULL,NULL),(48,'UniProt Function',NULL,56,NULL,'Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, retinoid and xenobiotics. Preferentially oxidizes 17beta-estradiol to the carcinogenic 4-hydroxy derivative, and a variety of procarcinogenic compounds to their activated forms, including polycyclic aromatic hydrocarbons. Promotes angiogenesis by removing cellular oxygenation products, thereby decreasing oxidative stress, release of antiangiogenic factor THBS2, then allowing endothelial cells migration, cell adhesion and capillary morphogenesis. These changes are concommitant with the endothelial nitric oxide synthase activity and nitric oxide synthesis. Plays an important role in the regulation of perivascular cell proliferation, migration, and survival through modulation of the intracellular oxidative state and NF-kappa-B expression and/or activity, during angiogenesis. Contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression.',NULL,NULL,NULL,NULL,NULL),(49,'UniProt Function',NULL,58,NULL,'Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is involved in the metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants.',NULL,NULL,NULL,NULL,NULL),(50,'UniProt Function',NULL,59,NULL,'Crystallins are the dominant structural components of the vertebrate eye lens.',NULL,NULL,NULL,NULL,NULL),(51,'UniProt Function',NULL,61,NULL,'Crystallins are the dominant structural components of the vertebrate eye lens.',NULL,NULL,NULL,NULL,NULL),(52,'UniProt Function',NULL,63,NULL,'Induces KLC1 association with vesicles and functions as a cargo in axonal anterograde transport. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP. The intracellular fragment AlcICD suppresses APBB1-dependent transactivation stimulated by APP C-terminal intracellular fragment (AICD), most probably by competing with AICD for APBB1-binding. May modulate calcium-mediated postsynaptic signals (By similarity).',NULL,NULL,NULL,NULL,NULL),(53,'UniProt Function',NULL,65,NULL,'Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3\' to inosine. Has strong preference for single-stranded RNAs (ssRNAs) toward double-stranded RNAs (dsRNAs). Cleaves mRNAs and tRNAs containing inosine. Also able to cleave structure-specific dsRNA substrates containing the specific sites 5\'-IIUI-3\' and 5\'-UIUU-3\'. Inosine is present in a number of RNAs following editing; the function of inosine-specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involved in antiviral response by removing the hyperedited long viral dsRNA genome that has undergone A-to-I editing. Binds branched DNA structures.',NULL,NULL,NULL,NULL,NULL),(54,'UniProt Function',NULL,68,NULL,'May be involved in testis development (By similarity). May play a role in hematopoietic differentiation or inflammation (PubMed:12535658). Has immunomodulatory and antimicrobial functions against Francisella tularensis, a Gram-negative bacteria (PubMed:23922243).',NULL,NULL,NULL,NULL,NULL),(55,'UniProt Function',NULL,71,NULL,'Tumor-associated antigen.',NULL,NULL,NULL,NULL,NULL),(56,'UniProt Function',NULL,72,NULL,'Choline transporter that plays a role in the choline-acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury (By similarity) (PubMed:23651124, PubMed:28013291). Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota-generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis (PubMed:24379411).',NULL,NULL,NULL,NULL,NULL),(57,'UniProt Function',NULL,72,NULL,'Isoform 3: Has also thiamine pyrophosphate transporter activity.',NULL,NULL,NULL,NULL,NULL),(58,'UniProt Function',NULL,73,NULL,'Specifically required for the pioneer round of mRNA translation mediated by the cap-binding complex (CBC), that takes place during or right after mRNA export via the nuclear pore complex (NPC). Acts via its interaction with the NCBP1/CBP80 component of the CBC complex and recruits the 40S small subunit of the ribosome via eIF3. In contrast, it is not involved in steady state translation, that takes place when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. Also required for nonsense-mediated mRNA decay (NMD), the pioneer round of mRNA translation mediated by the cap-binding complex playing a central role in nonsense-mediated mRNA decay (NMD).',NULL,NULL,NULL,NULL,NULL),(59,'UniProt Function',NULL,75,NULL,'Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single-stranded and primed DNAs and has weak ATPase activity that is stimulated by the presence of primed DNA, replication protein A (RPA) and by proliferating cell nuclear antigen (PCNA). The CTF18-RFC complex catalyzes the ATP-dependent loading of PCNA onto primed and gapped DNA. It also interacts with and stimulates DNA polymerase POLH.',NULL,NULL,NULL,NULL,NULL),(60,'UniProt Function',NULL,76,NULL,'May function as a linker between cadherin adhesion receptors and the cytoskeleton to regulate cell-cell adhesion and differentiation in the nervous system. Regulates morphological plasticity of synapses and cerebellar and hippocampal lamination during development. Functions in the control of startle modulation.',NULL,NULL,NULL,NULL,NULL),(61,'UniProt Function',NULL,78,NULL,'Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes. Mediates heparin- and divalent cation-dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells. Enhances fibroblast growth factor-induced DNA synthesis.',NULL,NULL,NULL,NULL,NULL),(62,'UniProt Function',NULL,79,NULL,'Functions as permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine); the affinity for its substrates differs between isoforms created by alternative splicing. Isoform 1 functions as permease that mediates the transport of the cationic amino acids (arginine, lysine and ornithine), and it has much higher affinity for arginine than isoform 2. Isoform 2 functions as low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) (PubMed:9174363). May play a role in classical or alternative activation of macrophages via its role in arginine transport.',NULL,NULL,NULL,NULL,NULL),(63,'UniProt Function',NULL,80,NULL,'Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, thus controls dendritic spinogenesis and dendritic spine maintenance.',NULL,NULL,NULL,NULL,NULL),(64,'UniProt Function',NULL,81,NULL,'Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.',NULL,NULL,NULL,NULL,NULL),(65,'UniProt Function',NULL,82,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties but has immunosuppressive properties in vivo.',NULL,NULL,NULL,NULL,NULL),(66,'UniProt Function',NULL,82,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(67,'UniProt Function',NULL,82,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(68,'UniProt Function',NULL,83,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This envelope protein has superantigenic properties.',NULL,NULL,NULL,NULL,NULL),(69,'UniProt Function',NULL,83,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(70,'UniProt Function',NULL,83,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(71,'UniProt Function',NULL,84,NULL,'Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization.',NULL,NULL,NULL,NULL,NULL),(72,'UniProt Function',NULL,85,NULL,'Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for a distribution of the CatSper complex in linear quadrilateral nanodomains along the flagellum, maximizing fertilization inside the mammalian female reproductive tract.',NULL,NULL,NULL,NULL,NULL),(73,'UniProt Function',NULL,86,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.',NULL,NULL,NULL,NULL,NULL),(74,'UniProt Function',NULL,86,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(75,'UniProt Function',NULL,86,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(76,'UniProt Function',NULL,87,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(77,'UniProt Function',NULL,87,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(78,'UniProt Function',NULL,87,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(79,'UniProt Function',NULL,88,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.',NULL,NULL,NULL,NULL,NULL),(80,'UniProt Function',NULL,88,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(81,'UniProt Function',NULL,88,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(82,'UniProt Function',NULL,94,NULL,'Cotransporter which plays a role in lipoprotein, vitamin and iron metabolism, by facilitating their uptake. Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the GIF-cobalamin complex. The binding of all ligands requires calcium. Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. Interaction with LRP2 mediates its trafficking throughout vesicles and facilitates the uptake of specific ligands like GC, hemoglobin, ALB, TF and SCGB1A1. Interaction with AMN controls its trafficking to the plasma membrane and facilitates endocytosis of ligands. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface.',NULL,NULL,NULL,NULL,NULL),(83,'UniProt Function',NULL,97,NULL,'May form part of a complex of membrane proteins attached to acetylcholinesterase (AChE).',NULL,NULL,NULL,NULL,NULL),(84,'UniProt Function',NULL,98,NULL,'Multifunctional enzyme that, as well as its role in glycolysis, plays a part in various processes such as growth control, hypoxia tolerance and allergic responses. May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. Stimulates immunoglobulin production.',NULL,NULL,NULL,NULL,NULL),(85,'UniProt Function',NULL,98,NULL,'MBP1 binds to the myc promoter and acts as a transcriptional repressor. May be a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(86,'UniProt Function',NULL,99,NULL,'Probably has a broad role in mammalian development as a repressor of developmentally regulated gene expression. May act by preventing binding of positively-activing CCAAT factors to promoters. Component of nf-munr repressor; binds to the matrix attachment regions (MARs) (5\' and 3\') of the immunoglobulin heavy chain enhancer. Represses T-cell receptor (TCR) beta enhancer function by binding to MARbeta, an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Binds to the TH enhancer; may require the basic helix-loop-helix protein TCF4 as a coactivator (By similarity).',NULL,NULL,NULL,NULL,NULL),(87,'UniProt Function',NULL,101,NULL,'Appears to have a function in striated muscle development and regeneration.',NULL,NULL,NULL,NULL,NULL),(88,'UniProt Function',NULL,102,NULL,'Has neurotrophic and neuroprotective properties on a broad spectrum of central nervous system (CNS) neurons. Binds, in a calcium-dependent manner, to cultured neocortical neurons and promotes cell survival (By similarity).',NULL,NULL,NULL,NULL,NULL),(89,'UniProt Function',NULL,103,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(90,'UniProt Function',NULL,104,NULL,'Connects the two COX monomers into the physiological dimeric form.',NULL,NULL,NULL,NULL,NULL),(91,'UniProt Function',NULL,105,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. Involved in tracer coupling between horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning (By similarity).',NULL,NULL,NULL,NULL,NULL),(92,'UniProt Function',NULL,106,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(93,'UniProt Function',NULL,107,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(94,'UniProt Function',NULL,108,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(95,'UniProt Function',NULL,109,NULL,'Ligand for CXCR2 (By similarity). Has chemotactic activity for neutrophils. May play a role in inflammation and exert its effects on endothelial cells in an autocrine fashion. In vitro, the processed form GRO-gamma(5-73) shows a fivefold higher chemotactic activity for neutrophilic granulocytes.',NULL,NULL,NULL,NULL,NULL),(96,'UniProt Function',NULL,110,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(97,'UniProt Function',NULL,111,NULL,'Chemotactic for neutrophil granulocytes. Signals through binding and activation of its receptors (CXCR1 and CXCR2). In addition to its chemotactic and angiogenic properties, it has strong antibacterial activity against Gram-positive and Gram-negative bacteria (90-fold-higher when compared to CXCL5 and CXCL7).',NULL,NULL,NULL,NULL,NULL),(98,'UniProt Function',NULL,112,NULL,'LA-PF4 stimulates DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by human synovial cells. NAP-2 is a ligand for CXCR1 and CXCR2, and NAP-2, NAP-2(73), NAP-2(74), NAP-2(1-66), and most potent NAP-2(1-63) are chemoattractants and activators for neutrophils. TC-1 and TC-2 are antibacterial proteins, in vitro released from activated platelet alpha-granules. CTAP-III(1-81) is more potent than CTAP-III desensitize chemokine-induced neutrophil activation.',NULL,NULL,NULL,NULL,NULL),(99,'UniProt Function',NULL,113,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(100,'UniProt Function',NULL,114,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(101,'UniProt Function',NULL,115,NULL,'Receptor for interleukin-8 which is a powerful neutrophil chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Binds to IL-8 with high affinity. Also binds with high affinity to CXCL3, GRO/MGSA and NAP-2.',NULL,NULL,NULL,NULL,NULL),(102,'UniProt Function',NULL,116,NULL,'Mediates calcium-independent ATP release, suggesting activity as a hemichannel. Does not form functional gap junctions.',NULL,NULL,NULL,NULL,NULL),(103,'UniProt Function',NULL,117,NULL,'Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation (PubMed:10452968, PubMed:28978524, PubMed:18799424, PubMed:24912431). Involved in the AKT signaling cascade (PubMed:24912431). Plays a role in regulation of cell migration, e.g. during wound healing (PubMed:28978524). Acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels (PubMed:20228059). Binds bacterial lipopolysaccharide (LPS) et mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). Involved in hematopoiesis and in cardiac ventricular septum formation. Also plays an essential role in vascularization of the gastrointestinal tract, probably by regulating vascular branching and/or remodeling processes in endothelial cells. Involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival (By similarity).',NULL,NULL,NULL,NULL,NULL),(104,'UniProt Function',NULL,117,NULL,'(Microbial infection) Acts as a coreceptor (CD4 being the primary receptor) for human immunodeficiency virus-1/HIV-1 X4 isolates and as a primary receptor for some HIV-2 isolates. Promotes Env-mediated fusion of the virus (PubMed:8849450, PubMed:8929542, PubMed:9427609, PubMed:10074122, PubMed:10756055).',NULL,NULL,NULL,NULL,NULL),(105,'UniProt Function',NULL,118,NULL,'Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases.',NULL,NULL,NULL,NULL,NULL),(106,'UniProt Function',NULL,119,NULL,'Necessary for a stable expression of the CYBA and CYBB subunits of the cytochrome b-245 hetrodimer. Controls the phagocyte respiratory burst and is essential for innate immunity.',NULL,NULL,NULL,NULL,NULL),(107,'UniProt Function',NULL,120,NULL,'May be involved in calcium-dependent ubiquitination and subsequent proteasomal degradation of target proteins. Probably serves as a molecular bridge in ubiquitin E3 complexes. Participates in the ubiquitin-mediated degradation of beta-catenin (CTNNB1).',NULL,NULL,NULL,NULL,NULL),(108,'UniProt Function',NULL,121,NULL,'Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.',NULL,NULL,NULL,NULL,NULL),(109,'UniProt Function',NULL,122,NULL,'Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1-3 form the functional core of the enzyme complex. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1.',NULL,NULL,NULL,NULL,NULL),(110,'UniProt Function',NULL,123,NULL,'Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.',NULL,NULL,NULL,NULL,NULL),(111,'UniProt Function',NULL,124,NULL,'Involved in the regulation of oxidative phosphorylation and energy metabolism (By similarity). Necessary for the assembly of mitochondrial respiratory supercomplex (By similarity).',NULL,NULL,NULL,NULL,NULL),(112,'UniProt Function',NULL,125,NULL,'Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti-cancer drug paclitaxel (taxol).',NULL,NULL,NULL,NULL,NULL),(113,'UniProt Function',NULL,126,NULL,'This enzyme metabolizes arachidonic acid predominantly via a NADPH-dependent olefin epoxidation to all four regioisomeric cis-epoxyeicosatrienoic acids. One of the predominant enzymes responsible for the epoxidation of endogenous cardiac arachidonic acid pools.',NULL,NULL,NULL,NULL,NULL),(114,'UniProt Function',NULL,129,NULL,'Has a potential importance for extrahepatic xenobiotic metabolism.',NULL,NULL,NULL,NULL,NULL),(115,'UniProt Function',NULL,130,NULL,'Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.',NULL,NULL,NULL,NULL,NULL),(116,'UniProt Function',NULL,131,NULL,'Cytokine receptor subunit, possibly playing a regulatory role in the immune system and during fetal development. May be involved in nervous system development.',NULL,NULL,NULL,NULL,NULL),(117,'UniProt Function',NULL,132,NULL,'Receptor for thymic stromal lymphopoietin (TSLP). Forms a functional complex with TSLP and IL7R which is capable of stimulating cell proliferation through activation of STAT3 and STAT5. Also activates JAK2 (By similarity). Implicated in the development of the hematopoietic system.',NULL,NULL,NULL,NULL,NULL),(118,'UniProt Function',NULL,133,NULL,'Contributes to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.',NULL,NULL,NULL,NULL,NULL),(119,'UniProt Function',NULL,134,NULL,'Calcium-dependent transcriptional repressor that binds to the DRE element of genes including PDYN and FOS. Affinity for DNA is reduced upon binding to calcium and enhanced by binding to magnesium. Seems to be involved in nociception (By similarity).',NULL,NULL,NULL,NULL,NULL),(120,'UniProt Function',NULL,134,NULL,'Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels, such as KCND2/Kv4.2 and KCND3/Kv4.3. Modulates channel expression at the cell membrane, gating characteristics, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner.',NULL,NULL,NULL,NULL,NULL),(121,'UniProt Function',NULL,134,NULL,'May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2 involved in modulation of amyloid-beta formation.',NULL,NULL,NULL,NULL,NULL),(122,'UniProt Function',NULL,135,NULL,'Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization.',NULL,NULL,NULL,NULL,NULL),(123,'UniProt Function',NULL,138,NULL,'Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta-catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1-dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD. Required for proper localization of non-farnesylated prelamin-A/C.',NULL,NULL,NULL,NULL,NULL),(124,'UniProt Function',NULL,139,NULL,'Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells.',NULL,NULL,NULL,NULL,NULL),(125,'UniProt Function',NULL,140,NULL,'Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface.',NULL,NULL,NULL,NULL,NULL),(126,'UniProt Function',NULL,143,NULL,'Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Has some glucocorticoid receptor-responsive activity. Stabilizes COP1 through reducing COP1 auto-ubiquitination and decelerating COP1 turnover rate, hence regulates the ubiquitination of COP1 targets.',NULL,NULL,NULL,NULL,NULL),(127,'UniProt Function',NULL,144,NULL,'Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively.',NULL,NULL,NULL,NULL,NULL),(128,'UniProt Function',NULL,145,NULL,'Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway. HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse. Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ). Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage (PubMed:10764811, PubMed:10910365, PubMed:15485915, PubMed:16581787, PubMed:16818604, PubMed:17965729, PubMed:19202191, PubMed:19759395, PubMed:20064462, PubMed:20829486). During immunoglobulin heavy chain class-switch recombination, promotes microhomology-mediated alternative end joining (A-NHEJ) and plays an essential role in chromosomal translocations (By similarity).',NULL,NULL,NULL,NULL,NULL),(129,'UniProt Function',NULL,146,NULL,'Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical actin was found to be much more dynamic than E-cadherin/catenin complexes and CTNNA1 was shown not to bind to F-actin when assembled in the complex suggesting a different linkage between actin and adherens junctions components. The homodimeric form may regulate actin filament assembly and inhibit actin branching by competing with the Arp2/3 complex for binding to actin filaments. May play a crucial role in cell differentiation.',NULL,NULL,NULL,NULL,NULL),(130,'UniProt Function',NULL,147,NULL,'Choline transporter. May be involved in membrane synthesis and myelin production.',NULL,NULL,NULL,NULL,NULL),(131,'UniProt Function',NULL,149,NULL,'Core component of multiple cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. BCR complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the BCR complex depends on the BTB domain-containing protein as the substrate recognition component. BCR(KLHL42) is involved in ubiquitination of KATNA1. BCR(SPOP) is involved in ubiquitination of BMI1/PCGF4, BRMS1, H2AFY and DAXX, GLI2 and GLI3. Can also form a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing homodimeric SPOPL or the heterodimer formed by SPOP and SPOPL; these complexes have lower ubiquitin ligase activity. BCR(KLHL9-KLHL13) controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis. BCR(KLHL12) is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B) (PubMed:22358839, PubMed:27716508). BCR(KLHL3) acts as a regulator of ion transport in the distal nephron; by mediating ubiquitination of WNK4 (PubMed:23387299, PubMed:23453970, PubMed:23576762). The BCR(KLHL20) E3 ubiquitin ligase complex is involved in interferon response and anterograde Golgi to endosome transport: it mediates both ubiquitination leading to degradation and \'Lys-33\'-linked ubiquitination (PubMed:20389280, PubMed:21840486, PubMed:21670212, PubMed:24768539). The BCR(KLHL21) E3 ubiquitin ligase complex regulates localization of the chromosomal passenger complex (CPC) from chromosomes to the spindle midzone in anaphase and mediates the ubiquitination of AURKB (PubMed:19995937). The BCR(KLHL22) ubiquitin ligase complex mediates monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation (PubMed:23455478). The BCR(KLHL22) ubiquitin ligase complex is also responsible for the amino acid-stimulated \'Lys-48\' polyubiquitination and proteasomal degradation of DEPDC5. Through the degradation of DEPDC5, releases the GATOR1 complex-mediated inhibition of the TORC1 pathway (PubMed:29769719). The BCR(KLHL25) ubiquitin ligase complex is involved in translational homeostasis by mediating ubiquitination and subsequent degradation of hypophosphorylated EIF4EBP1 (4E-BP1) (PubMed:22578813). The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). Involved in ubiquitination of cyclin E and of cyclin D1 (in vitro) thus involved in regulation of G1/S transition. Involved in the ubiquitination of KEAP1, ENC1 and KLHL41. In concert with ATF2 and RBX1, promotes degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM. The BCR(KCTD17) E3 ubiquitin ligase complex mediates ubiquitination and degradation of TCHP, a down-regulator of cilium assembly, thereby inducing ciliogenesis (PubMed:25270598). The BCR(KLHL24) E3 ubiquitin ligase complex mediates ubiquitination of KRT14, controls KRT14 levels during keratinocytes differentiation, and is essential for skin integrity (PubMed:27798626).',NULL,NULL,NULL,NULL,NULL),(132,'UniProt Function',NULL,150,NULL,'Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. DCX(DET1-COP1) directs ubiquitination of JUN. DCX(DDB2) directs ubiquitination of XPC. DCX(DDB2) ubiquitinates histones H3-H4 and is required for efficient histone deposition during replication-coupled (H3.1) and replication-independent (H3.3) nucleosome assembly, probably by facilitating the transfer of H3 from ASF1A/ASF1B to other chaperones involved in histone deposition. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication. In association with DDB1 and SKP2 probably is involved in ubiquitination of CDKN1B/p27kip. Is involved in ubiquitination of HOXA9. DCX(DTL) directs autoubiquitination of DTL.',NULL,NULL,NULL,NULL,NULL),(133,'UniProt Function',NULL,151,NULL,'May play a role in copper homeostasis. Can bind one Cu(1+) per subunit.',NULL,NULL,NULL,NULL,NULL),(134,'UniProt Function',NULL,152,NULL,'May be a transcription factor involved in neural specification. Binds to DNA in a sequence-specific manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(135,'UniProt Function',NULL,153,NULL,'Produced by activated monocytes and neutrophils and expressed at sites of inflammation. Hematoregulatory chemokine, which, in vitro, suppresses hematopoietic progenitor cell proliferation. GRO-beta(5-73) shows a highly enhanced hematopoietic activity.',NULL,NULL,NULL,NULL,NULL),(136,'UniProt Function',NULL,154,NULL,'Involved in neutrophil activation. In vitro, ENA-78(8-78) and ENA-78(9-78) show a threefold higher chemotactic activity for neutrophil granulocytes.',NULL,NULL,NULL,NULL,NULL),(137,'UniProt Function',NULL,155,NULL,'Cytokine receptor that binds to B-lymphocyte chemoattractant (BLC). Involved in B-cell migration into B-cell follicles of spleen and Peyer patches but not into those of mesenteric or peripheral lymph nodes. May have a regulatory function in Burkitt lymphoma (BL) lymphomagenesis and/or B-cell differentiation.',NULL,NULL,NULL,NULL,NULL),(138,'UniProt Function',NULL,156,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(139,'UniProt Function',NULL,157,NULL,'Chemotactic for B-lymphocytes but not for T-lymphocytes, monocytes and neutrophils. Does not induce calcium release in B-lymphocytes. Binds to BLR1/CXCR5.',NULL,NULL,NULL,NULL,NULL),(140,'UniProt Function',NULL,158,NULL,'Potent chemoattractant for neutrophils, and weaker for dendritic cells. Not chemotactic for T-cells, B-cells, monocytes, natural killer cells or granulocytes. Does not inhibit proliferation of myeloid progenitors in colony formation assays.',NULL,NULL,NULL,NULL,NULL),(141,'UniProt Function',NULL,159,NULL,'Chemokine that acts as chemoattractant for monocytes, macrophages and dendritic cells (PubMed:16455961, PubMed:23115081). Plays a role in angiogenesis and possibly in the development of tumors (PubMed:16989774, PubMed:23115081). Acts as an anti-inflammatory in the stomach (PubMed:23115081). May play a role in the innate defense against infections (PubMed:17307946). Activates the C-X-C chemokine receptor GPR35 to induce a rapid and transient rise in the level of intracellular calcium ions (PubMed:25411203).',NULL,NULL,NULL,NULL,NULL),(142,'UniProt Function',NULL,159,NULL,'4-Cys CXCL17: seems exhibit much higher chemoattractant potency on monocytes and macrophages than 6-Cys CXCL17.',NULL,NULL,NULL,NULL,NULL),(143,'UniProt Function',NULL,161,NULL,'Secretory vesicle-specific electron transport protein.',NULL,NULL,NULL,NULL,NULL),(144,'UniProt Function',NULL,162,NULL,'Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc.',NULL,NULL,NULL,NULL,NULL),(145,'UniProt Function',NULL,163,NULL,'Ferric-chelate reductase that reduces Fe(3+) to Fe(2+). Present at the brush border of duodenal enterocytes where it probably reduces dietary Fe(3+) thereby facilitating its transport into the mucosal cells. Uses ascorbate as electron donor. May be involved in extracellular ascorbate recycling in erythrocyte membranes. May also act as a ferrireductase in airway epithelial cells.',NULL,NULL,NULL,NULL,NULL),(146,'UniProt Function',NULL,164,NULL,'Provides CDP-diacylglycerol, an important precursor for the synthesis of phosphatidylinositol, phosphatidylglycerol, and cardiolipin.',NULL,NULL,NULL,NULL,NULL),(147,'UniProt Function',NULL,166,NULL,'Required for proper hearing, it may play a role in maintaining the integrity of the tectorial membrane.',NULL,NULL,NULL,NULL,NULL),(148,'UniProt Function',NULL,168,NULL,'Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1.',NULL,NULL,NULL,NULL,NULL),(149,'UniProt Function',NULL,170,NULL,'Stimulates transcription from the HSP70 promoter.',NULL,NULL,NULL,NULL,NULL),(150,'UniProt Function',NULL,171,NULL,'Receptor that may have an important role in cell/cell signaling during nervous system formation.',NULL,NULL,NULL,NULL,NULL),(151,'UniProt Function',NULL,172,NULL,'Plays an important role in cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway.',NULL,NULL,NULL,NULL,NULL),(152,'UniProt Function',NULL,173,NULL,'Catalyzes the first glycosylation step in glycosphingolipid biosynthesis, the transfer of glucose to ceramide. May also serve as a \"flippase\".',NULL,NULL,NULL,NULL,NULL),(153,'UniProt Function',NULL,174,NULL,'Required for ciliation (PubMed:28625565, PubMed:28428259, PubMed:28659385). Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP-bound RABL2B, the CEP19-RABL2B complex binds intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28625565, PubMed:28428259). Involved in the early steps in cilia formation by recruiting the ciliary vesicles (CVs) to the distal end of the mother centriole where they fuse to initiate cilium assembly. Involved in microtubule (MT) anchoring to the centrosomes (PubMed:28659385).',NULL,NULL,NULL,NULL,NULL),(154,'UniProt Function',NULL,175,NULL,'Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Acts in coordination with KNL1 to recruit the NDC80 complex to the outer kinetochore.',NULL,NULL,NULL,NULL,NULL),(155,'UniProt Function',NULL,176,NULL,'Interacts with centromeric heterochromatin in chromosomes and binds to a specific 17 bp subset of alphoid satellite DNA, called the CENP-B box (PubMed:11726497). May organize arrays of centromere satellite DNA into a higher-order structure which then directs centromere formation and kinetochore assembly in mammalian chromosomes (Probable).',NULL,NULL,NULL,NULL,NULL),(156,'UniProt Function',NULL,177,NULL,'Receptor that may have an important role in cell/cell signaling during nervous system formation.',NULL,NULL,NULL,NULL,NULL),(157,'UniProt Function',NULL,178,NULL,'Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Modulates the kinetochore-bound levels of NDC80 complex.',NULL,NULL,NULL,NULL,NULL),(158,'UniProt Function',NULL,179,NULL,'Plays a fundamental role in microtubule-organizing center structure and function.',NULL,NULL,NULL,NULL,NULL),(159,'UniProt Function',NULL,179,NULL,'Component of the TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, SEM1, and either centrin CETN2 or CETN3 (PubMed:22307388). The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery (PubMed:22307388).',NULL,NULL,NULL,NULL,NULL),(160,'UniProt Function',NULL,182,NULL,'May play a role in motile cilia function, possibly by acting on dynein arm assembly.',NULL,NULL,NULL,NULL,NULL),(161,'UniProt Function',NULL,187,NULL,'Flagellar protein involved in sperm flagellum axoneme organization and function.',NULL,NULL,NULL,NULL,NULL),(162,'UniProt Function',NULL,188,NULL,'Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains.',NULL,NULL,NULL,NULL,NULL),(163,'UniProt Function',NULL,189,NULL,'May play a role in cell growth and/or survival.',NULL,NULL,NULL,NULL,NULL),(164,'UniProt Function',NULL,192,NULL,'Co-chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp60, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:7912672, PubMed:1346131, PubMed:11422376). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable).',NULL,NULL,NULL,NULL,NULL),(165,'UniProt Function',NULL,193,NULL,'Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) (PubMed:15712224, PubMed:16442803, PubMed:16770810, PubMed:17404228, PubMed:20160912, PubMed:20385101). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711). In monomeric form may have additional moonlighting function as serine protease (PubMed:17404228). Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity).',NULL,NULL,NULL,NULL,NULL),(166,'UniProt Function',NULL,195,NULL,'Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organization and centrosome integrity.',NULL,NULL,NULL,NULL,NULL),(167,'UniProt Function',NULL,196,NULL,'Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization.',NULL,NULL,NULL,NULL,NULL),(168,'UniProt Function',NULL,197,NULL,'Second messenger, cAMP, causes the opening of cation-selective cyclic nucleotide-gated (CNG) channels and depolarization of the neuron (olfactory sensory neurons, OSNs). CNGA4 is the modulatory subunit of this channel which is known to play a central role in the transduction of odorant signals and subsequent adaptation. By accelerating the calcium-mediated negative feedback in olfactory signaling it allows rapid adaptation to odor stimulation and extends its range of odor detection (By similarity).',NULL,NULL,NULL,NULL,NULL),(169,'UniProt Function',NULL,198,NULL,'Involved in G protein-coupled receptors (GPCRs) trafficking from the endoplasmic reticulum to the cell surface; it promotes the exit of GPCRs from the early secretory pathway, likely through interaction with the COPII machinery (PubMed:24405750).',NULL,NULL,NULL,NULL,NULL),(170,'UniProt Function',NULL,199,NULL,'Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP.',NULL,NULL,NULL,NULL,NULL),(171,'UniProt Function',NULL,199,NULL,'Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor \'dark noise\' and allowing these sensory cells to operate at the single photon detection limit.',NULL,NULL,NULL,NULL,NULL),(172,'UniProt Function',NULL,200,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(173,'UniProt Function',NULL,201,NULL,'Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(174,'UniProt Function',NULL,203,NULL,'Probable metal transporter.',NULL,NULL,NULL,NULL,NULL),(175,'UniProt Function',NULL,205,NULL,'Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in recruitment of the CCR4-NOT complex to deadenylation target mRNAs involved in energy metabolism. Involved in mitotic progression and regulation of the spindle assembly checkpoint by regulating the stability of MAD1L1 mRNA. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may involve histone deacetylases. Involved in the maintenance of emryonic stem (ES) cell identity.',NULL,NULL,NULL,NULL,NULL),(176,'UniProt Function',NULL,206,NULL,'Has E3 ubiquitin ligase activity, promoting ubiquitination and degradation of target proteins (PubMed:11823428, PubMed:22159038, PubMed:26575292). Involved in activation of the JAK/STAT pathway (PubMed:11823428, PubMed:22159038). Catalyzes ubiquitination of methylated RBM15 (PubMed:26575292).',NULL,NULL,NULL,NULL,NULL),(177,'UniProt Function',NULL,207,NULL,'G-protein coupled receptor for endogenous cannabinoids (eCBs), including N-arachidonoylethanolamide (also called anandamide or AEA) and 2-arachidonoylglycerol (2-AG), as well as phytocannabinoids, such as delta(9)-tetrahydrocannabinol (THC) (PubMed:15620723, PubMed:27768894, PubMed:27851727). Mediates many cannabinoid-induced effects, acting, among others, on food intake, memory loss, gastrointestinal motility, catalepsy, ambulatory activity, anxiety, chronic pain. Signaling typically involves reduction in cyclic AMP (PubMed:1718258, PubMed:21895628, PubMed:27768894). In the hypothalamus, may have a dual effect on mitochondrial respiration depending upon the agonist dose and possibly upon the cell type. Increases respiration at low doses, while decreases respiration at high doses. At high doses, CNR1 signal transduction involves G-protein alpha-i protein activation and subsequent inhibition of mitochondrial soluble adenylate cyclase, decrease in cyclic AMP concentration, inhibition of protein kinase A (PKA)-dependent phosphorylation of specific subunits of the mitochondrial electron transport system, including NDUFS2. In the hypothalamus, inhibits leptin-induced reactive oxygen species (ROS) formation and mediates cannabinoid-induced increase in SREBF1 and FASN gene expression. In response to cannabinoids, drives the release of orexigenic beta-endorphin, but not that of melanocyte-stimulating hormone alpha/alpha-MSH, from hypothalamic POMC neurons, hence promoting food intake. In the hippocampus, regulates cellular respiration and energy production in response to cannabinoids. Involved in cannabinoid-dependent depolarization-induced suppression of inhibition (DSI), a process in which depolarization of CA1 postsynaptic pyramidal neurons mobilizes eCBs, which retrogradely activate presynaptic CB1 receptors, transiently decreasing GABAergic inhibitory neurotransmission. Also reduces excitatory synaptic transmission (By similarity). In superior cervical ganglions and cerebral vascular smooth muscle cells, inhibits voltage-gated Ca(2+) channels in a constitutive, as well as agonist-dependent manner (PubMed:17895407). In cerebral vascular smooth muscle cells, cannabinoid-induced inhibition of voltage-gated Ca(2+) channels leads to vasodilation and decreased vascular tone (By similarity). Induces leptin production in adipocytes and reduces LRP2-mediated leptin clearance in the kidney, hence participating in hyperleptinemia. In adipose tissue, CNR1 signaling leads to increased expression of SREBF1, ACACA and FASN genes (By similarity). In the liver, activation by endocannabinoids leads to increased de novo lipogenesis and reduced fatty acid catabolism, associated with increased expression of SREBF1/SREBP-1, GCK, ACACA, ACACB and FASN genes. May also affect de novo cholesterol synthesis and HDL-cholesteryl ether uptake. Peripherally modulates energy metabolism (By similarity). In high carbohydrate diet-induced obesity, may decrease the expression of mitochondrial dihydrolipoyl dehydrogenase/DLD in striated muscles, as well as that of selected glucose/ pyruvate metabolic enzymes, hence affecting energy expenditure through mitochondrial metabolism (By similarity). In response to cannabinoid anandamide, elicits a proinflammatory response in macrophages, which involves NLRP3 inflammasome activation and IL1B and IL18 secretion (By similarity). In macrophages infiltrating pancreatic islets, this process may participate in the progression of type-2 diabetes and associated loss of pancreatic beta-cells (PubMed:23955712).',NULL,NULL,NULL,NULL,NULL),(178,'UniProt Function',NULL,207,NULL,'Isoform 1: Binds both 2-AG and anandamide.',NULL,NULL,NULL,NULL,NULL),(179,'UniProt Function',NULL,207,NULL,'Isoform 2: Only binds 2-AG with high affinity. Contrary to its effect on isoform 1, 2-AG behaves as an inverse agonist on isoform 2 in assays measuring GTP binding to membranes.',NULL,NULL,NULL,NULL,NULL),(180,'UniProt Function',NULL,207,NULL,'Isoform 3: Only binds 2-AG with high affinity. Contrary to its effect on isoform 1, 2-AG behaves as an inverse agonist on isoform 3 in assays measuring GTP binding to membranes.',NULL,NULL,NULL,NULL,NULL),(181,'UniProt Function',NULL,208,NULL,'Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction.',NULL,NULL,NULL,NULL,NULL),(182,'UniProt Function',NULL,209,NULL,'Has 3\'-5\' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Its function seems to be partially redundant with that of CNOT7. Catalytic component of the CCR4-NOT complex which is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. During miRNA-mediated repression the complex seems also to act as translational repressor during translational initiation. Additional complex functions may be a consequence of its influence on mRNA expression. Associates with members of the BTG family such as TOB1 and BTG2 and is required for their anti-proliferative activity.',NULL,NULL,NULL,NULL,NULL),(183,'UniProt Function',NULL,210,NULL,'Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in down-regulation of MYB- and JUN-dependent transcription. May play a role in cell differentiation (By similarity). Can bind oligonucleotides, such as poly-G, poly-C or poly-T (in vitro), but the physiological relevance of this is not certain. Does not bind poly-A. Enhances ligand-dependent transcriptional activity of nuclear hormone receptors, including RARA, expect ESR1-mediated transcription that is not only slightly increased, if at all.',NULL,NULL,NULL,NULL,NULL),(184,'UniProt Function',NULL,211,NULL,'Required for centriole duplication. Inhibition of centriole duplication leading to defects in cytokinesis.',NULL,NULL,NULL,NULL,NULL),(185,'UniProt Function',NULL,212,NULL,'Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission.',NULL,NULL,NULL,NULL,NULL),(186,'UniProt Function',NULL,214,NULL,'Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity).',NULL,NULL,NULL,NULL,NULL),(187,'UniProt Function',NULL,215,NULL,'Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.',NULL,NULL,NULL,NULL,NULL),(188,'UniProt Function',NULL,216,NULL,'C3 plays a central role in the activation of the complement system. Its processing by C3 convertase is the central reaction in both classical and alternative complement pathways. After activation C3b can bind covalently, via its reactive thioester, to cell surface carbohydrates or immune aggregates.',NULL,NULL,NULL,NULL,NULL),(189,'UniProt Function',NULL,216,NULL,'Derived from proteolytic degradation of complement C3, C3a anaphylatoxin is a mediator of local inflammatory process. In chronic inflammation, acts as a chemoattractant for neutrophils (By similarity). It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.',NULL,NULL,NULL,NULL,NULL),(190,'UniProt Function',NULL,216,NULL,'C3-beta-c: Acts as a chemoattractant for neutrophils in chronic inflammation.',NULL,NULL,NULL,NULL,NULL),(191,'UniProt Function',NULL,216,NULL,'Acylation stimulating protein: adipogenic hormone that stimulates triglyceride (TG) synthesis and glucose transport in adipocytes, regulating fat storage and playing a role in postprandial TG clearance. Appears to stimulate TG synthesis via activation of the PLC, MAPK and AKT signaling pathways. Ligand for C5AR2. Promotes the phosphorylation, ARRB2-mediated internalization and recycling of C5AR2 (PubMed:8376604, PubMed:2909530, PubMed:9059512, PubMed:10432298, PubMed:15833747, PubMed:16333141, PubMed:19615750).',NULL,NULL,NULL,NULL,NULL),(192,'UniProt Function',NULL,217,NULL,'Structural component of hyaline cartilage and vitreous of the eye.',NULL,NULL,NULL,NULL,NULL),(193,'UniProt Function',NULL,218,NULL,'Collagen VI acts as a cell-binding protein.',NULL,NULL,NULL,NULL,NULL),(194,'UniProt Function',NULL,219,NULL,'Collagen VI acts as a cell-binding protein.',NULL,NULL,NULL,NULL,NULL),(195,'UniProt Function',NULL,220,NULL,'Collagen VI acts as a cell-binding protein.',NULL,NULL,NULL,NULL,NULL),(196,'UniProt Function',NULL,221,NULL,'Collagen VI acts as a cell-binding protein.',NULL,NULL,NULL,NULL,NULL),(197,'UniProt Function',NULL,222,NULL,'Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.',NULL,NULL,NULL,NULL,NULL),(198,'UniProt Function',NULL,223,NULL,'S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester. The four successive methylation reactions represent the second step of diphthamide biosynthesis.',NULL,NULL,NULL,NULL,NULL),(199,'UniProt Function',NULL,224,NULL,'Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM) synthase complex.',NULL,NULL,NULL,NULL,NULL),(200,'UniProt Function',NULL,225,NULL,'Regulates the biosynthesis of dolichol phosphate-mannose. Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1. When associated with the GPI-GlcNAc transferase (GPI-GnT) complex enhances but is not essential for its activity.',NULL,NULL,NULL,NULL,NULL),(201,'UniProt Function',NULL,226,NULL,'Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the ER.',NULL,NULL,NULL,NULL,NULL),(202,'UniProt Function',NULL,227,NULL,'Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes (By similarity).',NULL,NULL,NULL,NULL,NULL),(203,'UniProt Function',NULL,228,NULL,'Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3\'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. This subunit is involved in the RNA recognition step of the polyadenylation reaction.',NULL,NULL,NULL,NULL,NULL),(204,'UniProt Function',NULL,229,NULL,'Transcriptional activator that may play a role in the unfolded protein response. Binds to the UPR element (UPRE) but not to CRE element. Preferentially binds DNA with to the consensus sequence 5\'-T[GT]ACGT[GA][GT]-3\' and has transcriptional activation activity from UPRE. Binds to NF-kappa-B site and has transcriptional activation activity from NF-kappa-B-containing regulatory elements (By similarity).',NULL,NULL,NULL,NULL,NULL),(205,'UniProt Function',NULL,230,NULL,'Positively regulates a late step in synaptic vesicle exocytosis.',NULL,NULL,NULL,NULL,NULL),(206,'UniProt Function',NULL,231,NULL,'Has a role in maintaining calcium homeostasis. Catalyzes the adrenodoxin-dependent 24-hydroxylation of calcidiol (25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product.',NULL,NULL,NULL,NULL,NULL),(207,'UniProt Function',NULL,232,NULL,'Negative regulator of PAK1. It has been suggested that the lost of CRIPAK in breast tumors might contribute to hormonal independence.',NULL,NULL,NULL,NULL,NULL),(208,'UniProt Function',NULL,233,NULL,'May mediate extracellular or intracellular signaling of cortical neurons during forebrain development.',NULL,NULL,NULL,NULL,NULL),(209,'UniProt Function',NULL,235,NULL,'Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with CTU1/ATPBD3 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position.',NULL,NULL,NULL,NULL,NULL),(210,'UniProt Function',NULL,244,NULL,'Core component of multiple cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. SCF complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). In the SCF complex, serves as a rigid scaffold that organizes the SKP1-F-box protein and RBX1 subunits. May contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and exchange of the substrate recognition component is mediated by TIP120A/CAND1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC) directs ubiquitination of NFKBIB, NFKBIE, ATF4, SMAD3, SMAD4, CDC25A, FBXO5 and probably NFKB2. SCF(BTRC) and/or SCF(FBXW11) direct ubiquitination of CEP68 (PubMed:25704143, PubMed:25503564). SCF(SKP2) directs ubiquitination of phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition. SCF(SKP2) directs ubiquitination of ORC1, CDT1, RBL2, ELF4, CDKN1A, RAG2, FOXO1A, and probably MYC and TAL1. SCF(FBXW7) directs ubiquitination of CCNE1, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1. SCF(FBXW2) directs ubiquitination of GCM1. SCF(FBXO32) directs ubiquitination of MYOD1. SCF(FBXO7) directs ubiquitination of BIRC2 and DLGAP5. SCF(FBXO33) directs ubiquitination of YBX1. SCF(FBXO1) directs ubiquitination of BCL6 and DTL but does not seem to direct ubiquitination of TP53. SCF(BTRC) mediates the ubiquitination of NFKBIA at \'Lys-21\' and \'Lys-22\'; the degradation frees the associated NFKB1-RELA dimer to translocate into the nucleus and to activate transcription. SCF(CCNF) directs ubiquitination of CCP110. SCF(FBXL3) and SCF(FBXL21) direct ubiquitination of CRY1 and CRY2. SCF(FBXO9) directs ubiquitination of TTI1 and TELO2. SCF(FBXO10) directs ubiquitination of BCL2.',NULL,NULL,NULL,NULL,NULL),(211,'UniProt Function',NULL,245,NULL,'Core component of a Cul9-RING ubiquitin-protein ligase complex, a complex that mediates ubiquitination and subsequent degradation of BIRC5 and is required to maintain microtubule dynamics and genome integrity. Acts downstream of the 3M complex, which inhibits CUL9 activity, leading to prevent ubiquitination of BIRC5 (PubMed:24793696). Cytoplasmic anchor protein in p53/TP53-associated protein complex. Regulates the subcellular localization of p53/TP53 and subsequent function (PubMed:12526791, PubMed:17332328).',NULL,NULL,NULL,NULL,NULL),(212,'UniProt Function',NULL,246,NULL,'Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto-3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion (PubMed:24697329).',NULL,NULL,NULL,NULL,NULL),(213,'UniProt Function',NULL,249,NULL,'Bifunctional enzyme that catalyzes the enolization of 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P) into the intermediate 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate (HK-MTPenyl-1-P), which is then dephosphorylated to form the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene).',NULL,NULL,NULL,NULL,NULL),(214,'UniProt Function',NULL,257,NULL,'May be involved in cell growth. Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 22 minutes and play a role in control of the ultradian cellular biological clock.',NULL,NULL,NULL,NULL,NULL),(215,'UniProt Function',NULL,258,NULL,'Receptor for the CX3C chemokine fractalkine (CX3CL1); binds to CX3CL1 and mediates both its adhesive and migratory functions (PubMed:9390561, PubMed:23125415). Acts as coreceptor with CD4 for HIV-1 virus envelope protein (in vitro) (PubMed:9726990). Isoform 2 and isoform 3 seem to be more potent HIV-1 coreceptors than isoform 1 (PubMed:14607932).',NULL,NULL,NULL,NULL,NULL),(216,'UniProt Function',NULL,259,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(217,'UniProt Function',NULL,260,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(218,'UniProt Function',NULL,261,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(219,'UniProt Function',NULL,262,NULL,'Connects the two COX monomers into the physiological dimeric form.',NULL,NULL,NULL,NULL,NULL),(220,'UniProt Function',NULL,263,NULL,'Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity).',NULL,NULL,NULL,NULL,NULL),(221,'UniProt Function',NULL,264,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(222,'UniProt Function',NULL,265,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(223,'UniProt Function',NULL,266,NULL,'Component of the epithelial apical junction complex that may function as a homophilic cell adhesion molecule and is essential for tight junction integrity. Also involved in transepithelial migration of leukocytes through adhesive interactions with JAML a transmembrane protein of the plasma membrane of leukocytes. The interaction between both receptors also mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, JAML induces downstream cell signaling events in gamma-delta T-cells through PI3-kinase and MAP kinases. It results in proliferation and production of cytokines and growth factors by T-cells that in turn stimulate epithelial tissues repair.',NULL,NULL,NULL,NULL,NULL),(224,'UniProt Function',NULL,266,NULL,'(Microbial infection) Acts as a receptor for adenovirus type C.',NULL,NULL,NULL,NULL,NULL),(225,'UniProt Function',NULL,266,NULL,'(Microbial infection) Acts as a receptor for Coxsackievirus B1 to B6.',NULL,NULL,NULL,NULL,NULL),(226,'UniProt Function',NULL,267,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(227,'UniProt Function',NULL,268,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(228,'UniProt Function',NULL,269,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(229,'UniProt Function',NULL,270,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(230,'UniProt Function',NULL,271,NULL,'Chemotactic for interleukin-activated T-cells but not unstimulated T-cells, neutrophils or monocytes. Induces calcium release in activated T-cells. Binds to CXCR3. May play an important role in CNS diseases which involve T-cell recruitment. May play a role in skin immune responses.',NULL,NULL,NULL,NULL,NULL),(231,'UniProt Function',NULL,272,NULL,'Isoform 1: Receptor for the C-X-C chemokine CXCL9, CXCL10 and CXCL11 and mediates the proliferation, survival and angiogenic activity of human mesangial cells (HMC) through a heterotrimeric G-protein signaling pathway (PubMed:12782716). Binds to CCL21. Probably promotes cell chemotaxis response.',NULL,NULL,NULL,NULL,NULL),(232,'UniProt Function',NULL,272,NULL,'Isoform 2: Receptor for the C-X-C chemokine CXCL4 and also mediates the inhibitory activities of CXCL9, CXCL10 and CXCL11 on the proliferation, survival and angiogenic activity of human microvascular endothelial cells (HMVEC) through a cAMP-mediated signaling pathway (PubMed:12782716). Does not promote cell chemotaxis respons. Interaction with CXCL4 or CXCL10 leads to activation of the p38MAPK pathway and contributes to inhibition of angiogenesis. Overexpression in renal cancer cells down-regulates expression of the anti-apoptotic protein HMOX1 and promotes apoptosis.',NULL,NULL,NULL,NULL,NULL),(233,'UniProt Function',NULL,272,NULL,'Isoform 3: Mediates the activity of CXCL11.',NULL,NULL,NULL,NULL,NULL),(234,'UniProt Function',NULL,273,NULL,'May indirectly participate in activation of the NF-kappa-B and MAPK pathways. Acts as a mediator of BMP4-mediated modulation of canonical Wnt signaling activity in neural stem cells (By similarity). Required for DNA damage-induced ATM phosphorylation, p53 activation and cell cycle arrest. Involved in myelopoiesis. Transcription factor. Binds to the oxygen responsive element of COX4I2 and represses its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788). May repress COX4I2 transactivation induced by CHCHD2 and RBPJ (PubMed:23303788).',NULL,NULL,NULL,NULL,NULL),(235,'UniProt Function',NULL,274,NULL,'Transcriptional activator that exhibits a unique DNA binding specificity for CpG unmethylated motifs with a preference for CpGG.',NULL,NULL,NULL,NULL,NULL),(236,'UniProt Function',NULL,275,NULL,'Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.',NULL,NULL,NULL,NULL,NULL),(237,'UniProt Function',NULL,276,NULL,'Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases.',NULL,NULL,NULL,NULL,NULL),(238,'UniProt Function',NULL,277,NULL,'Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase complex, the final protein carrier in the mitochondrial electron-transport chain.',NULL,NULL,NULL,NULL,NULL),(239,'UniProt Function',NULL,277,NULL,'Plays a role in apoptosis. Suppression of the anti-apoptotic members or activation of the pro-apoptotic members of the Bcl-2 family leads to altered mitochondrial membrane permeability resulting in release of cytochrome c into the cytosol. Binding of cytochrome c to Apaf-1 triggers the activation of caspase-9, which then accelerates apoptosis by activating other caspases.',NULL,NULL,NULL,NULL,NULL),(240,'UniProt Function',NULL,278,NULL,'Deubiquitinase that specifically cleaves \'Lys-63\'- and linear \'Met-1\'-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-alpha-induced necroptosis (PubMed:18636086, PubMed:26670046, PubMed:27458237, PubMed:26997266, PubMed:27591049, PubMed:29291351, PubMed:18313383). Plays an important role in the regulation of pathways leading to NF-kappa-B activation (PubMed:12917689, PubMed:12917691). Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation (PubMed:12917690). Negative regulator of Wnt signaling (PubMed:20227366). Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules (PubMed:19893491). Plays a role in the regulation of microtubule dynamics, and thereby contributes to the regulation of cell proliferation, cell polarization, cell migration, and angiogenesis (PubMed:18222923, PubMed:20194890). Required for normal cell cycle progress and normal cytokinesis (PubMed:17495026, PubMed:19893491). Inhibits nuclear translocation of NF-kappa-B (PubMed:18636086). Plays a role in the regulation of inflammation and the innate immune response, via its effects on NF-kappa-B activation (PubMed:18636086). Dispensable for the maturation of intrathymic natural killer cells, but required for the continued survival of immature natural killer cells (By similarity). Negatively regulates TNFRSF11A signaling and osteoclastogenesis (By similarity). Involved in the regulation of ciliogenesis, allowing ciliary basal bodies to migrate and dock to the plasma membrane; this process does not depend on NF-kappa-B activation (By similarity). Ability to remove linear (\'Met-1\'-linked) polyubiquitin chains regulates innate immunity and TNF-alpha-induced necroptosis: recruited to the LUBAC complex via interaction with SPATA2 and restricts linear polyubiquitin formation on target proteins (PubMed:26997266, PubMed:26670046, PubMed:27458237, PubMed:27591049). Regulates innate immunity by restricting linear polyubiquitin formation on RIPK2 in response to NOD2 stimulation (PubMed:26997266). Involved in TNF-alpha-induced necroptosis by removing linear (\'Met-1\'-linked) polyubiquitin chains from RIPK1, thereby regulating the kinase activity of RIPK1 (By similarity). Removes \'Lys-63\' linked polyubiquitin chain of MAP3K7, which inhibits phosphorylation and blocks downstream activation of the JNK-p38 kinase cascades (PubMed:29291351).',NULL,NULL,NULL,NULL,NULL),(241,'UniProt Function',NULL,279,NULL,'May play a role in the regulation of cellular reactive oxygen species metabolism. May participate in cell growth regulation.',NULL,NULL,NULL,NULL,NULL),(242,'UniProt Function',NULL,281,NULL,'Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. Activates both RAS/MAPK and PI3K/AKT/TOR signaling cascades downstream of EGFR. Required for the RAS/MAPK signaling cascade activation upon EGFR stimulation, it also activates both signaling cascades independently of EGFR activation.',NULL,NULL,NULL,NULL,NULL),(243,'UniProt Function',NULL,282,NULL,'Mediates the intracellular transfer of ceramide-1-phosphate (C1P) between organelle membranes and the cell membrane. Required for normal structure of the Golgi stacks. Can bind phosphoceramides with a variety of aliphatic chains, but has a preference for lipids with saturated C16:0 or monounsaturated C18:1 aliphatic chains, and is inefficient with phosphoceramides containing lignoceryl (C24:0). Plays a role in the regulation of the cellular levels of ceramide-1-phosphate, and thereby contributes to the regulation of phospholipase PLA2G4A activity and the release of arachidonic acid. Has no activity with galactosylceramide, lactosylceramide, sphingomyelin, phosphatidylcholine, phosphatidic acid and ceramide. C1P transfer is stimulated by phosphatidylserine in C1P source vesicles (PubMed:28011644). Regulates autophagy, inflammasome mediated IL1B and IL18 processing, and pyroptosis, but not apoptosis (PubMed:29164996).',NULL,NULL,NULL,NULL,NULL),(244,'UniProt Function',NULL,283,NULL,'Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha-hydroxylated C27 steroids.',NULL,NULL,NULL,NULL,NULL),(245,'UniProt Function',NULL,284,NULL,'Responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine.',NULL,NULL,NULL,NULL,NULL),(246,'UniProt Function',NULL,285,NULL,'Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs cyclophosphamide and ifosphamide. Competent in the metabolic activation of aflatoxin B1. Constitutes the major nicotine C-oxidase. Acts as a 1,4-cineole 2-exo-monooxygenase. Possesses low phenacetin O-deethylation activity.',NULL,NULL,NULL,NULL,NULL),(247,'UniProt Function',NULL,286,NULL,'Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles (PubMed:21785414). Organizes the SNAREs into a cross-linked zigzag topology that, when interposed between the vesicle and plasma membranes, is incompatible with fusion, thereby preventing SNAREs from releasing neurotransmitters until an action potential arrives at the synapse (PubMed:21785414). Also involved in glucose-induced secretion of insulin by pancreatic beta-cells. Essential for motor behavior.',NULL,NULL,NULL,NULL,NULL),(248,'UniProt Function',NULL,287,NULL,'May be involved in cell-cell interactions.',NULL,NULL,NULL,NULL,NULL),(249,'UniProt Function',NULL,289,NULL,'May function as suppressor of malignant melanoma. It may exert its effects through interactions with the cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(250,'UniProt Function',NULL,290,NULL,'Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).',NULL,NULL,NULL,NULL,NULL),(251,'UniProt Function',NULL,290,NULL,'(Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426).',NULL,NULL,NULL,NULL,NULL),(252,'UniProt Function',NULL,291,NULL,'May inhibit BMPs activity by blocking their interaction with their receptors. Has a negative regulator effect on the cartilage formation/regeneration from immature mesenchymal cells, by preventing or reducing the rate of matrix accumulation (By similarity). Implicated in tumor angiogenesis. May play a role during myoblast and osteoblast differentiation, and maturation.',NULL,NULL,NULL,NULL,NULL),(253,'UniProt Function',NULL,292,NULL,'Ca(2+) release-activated Ca(2+) (CRAC) channel subunit which mediates Ca(2+) influx following depletion of intracellular Ca(2+) stores and channel activation by the Ca(2+) sensor, STIM1 (PubMed:16582901, PubMed:16645049, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:19249086, PubMed:23307288, PubMed:24351972, PubMed:24591628, PubMed:28219928). CRAC channels are the main pathway for Ca(2+) influx in T-cells and promote the immune response to pathogens by activating the transcription factor NFAT (PubMed:16582901).',NULL,NULL,NULL,NULL,NULL),(254,'UniProt Function',NULL,293,NULL,'May play a role in lipid metabolic process.',NULL,NULL,NULL,NULL,NULL),(255,'UniProt Function',NULL,294,NULL,'Candidate for the putative colorectal tumor suppressor gene located at 5q21. Suppresses cell proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA binding of b-catenin/TCF/LEF transcription factors. Involved in cell migration independently of RAC1, CDC42 and p21-activated kinase (PAK) activation (PubMed:18591935, PubMed:19555689, PubMed:22480440). Represses the beta-catenin pathway (canonical Wnt signaling pathway) in a CCAR2-dependent manner by sequestering CCAR2 to the cytoplasm, thereby impairing its ability to inhibit SIRT1 which is involved in the deacetylation and negative regulation of beta-catenin (CTNB1) transcriptional activity (PubMed:24824780).',NULL,NULL,NULL,NULL,NULL),(256,'UniProt Function',NULL,298,NULL,'Displays several functions associated with host defense: it promotes agglutination, bacterial capsular swelling, phagocytosis and complement fixation through its calcium-dependent binding to phosphorylcholine. Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells.',NULL,NULL,NULL,NULL,NULL),(257,'UniProt Function',NULL,300,NULL,'Major structural component of the ciliary rootlet, a cytoskeletal-like structure in ciliated cells which originates from the basal body at the proximal end of a cilium and extends proximally toward the cell nucleus (By similarity). Furthermore, is required for the correct positioning of the cilium basal body relative to the cell nucleus, to allow for ciliogenesis (PubMed:27623382). Contributes to centrosome cohesion before mitosis (PubMed:16203858).',NULL,NULL,NULL,NULL,NULL),(258,'UniProt Function',NULL,301,NULL,'Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo. Acts by promoting cell ingression, the process by which cells leave the epithelial epiblast and move inside the embryo to form a new tissue layer. The anisotropic distribution of CRB2 and MYH10/myosin-IIB at cell edges define which cells will ingress: cells with high apical CRB2 are probably extruded from the epiblast by neighboring cells with high levels of apical MYH10/myosin-IIB. Also required for maintenance of the apical polarity complex during development of the cortex.',NULL,NULL,NULL,NULL,NULL),(259,'UniProt Function',NULL,302,NULL,'Involved in the establishment of cell polarity in mammalian epithelial cells. Regulates the morphogenesis of tight junctions.',NULL,NULL,NULL,NULL,NULL),(260,'UniProt Function',NULL,303,NULL,'Transcription factor that binds and transactivates the sequence 5\'-TAATC[CA]-3\' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors.',NULL,NULL,NULL,NULL,NULL),(261,'UniProt Function',NULL,304,NULL,'Binds to and inhibits the transcriptional repressor ZBTB33, which may lead to activation of target genes of the Wnt signaling pathway (By similarity). Associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability. Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors. Promotes GLIS2 C-terminal cleavage.',NULL,NULL,NULL,NULL,NULL),(262,'UniProt Function',NULL,305,NULL,'Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses (PubMed:25807484). Involved in the regulation of Wnt signaling (PubMed:25807484). It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules.',NULL,NULL,NULL,NULL,NULL),(263,'UniProt Function',NULL,306,NULL,'May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1).',NULL,NULL,NULL,NULL,NULL),(264,'UniProt Function',NULL,308,NULL,'Mediates the uptake of the cationic amino acids arginine, lysine and ornithine in a sodium-independent manner.',NULL,NULL,NULL,NULL,NULL),(265,'UniProt Function',NULL,309,NULL,'Probable phosphatase.',NULL,NULL,NULL,NULL,NULL),(266,'UniProt Function',NULL,310,NULL,'Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.',NULL,NULL,NULL,NULL,NULL),(267,'UniProt Function',NULL,311,NULL,'Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.',NULL,NULL,NULL,NULL,NULL),(268,'UniProt Function',NULL,312,NULL,'Regulates activation and degradation of trypsinogens and procarboxypeptidases by targeting specific cleavage sites within their zymogen precursors. Has chymotrypsin-type protease activity and hypocalcemic activity.',NULL,NULL,NULL,NULL,NULL),(269,'UniProt Function',NULL,313,NULL,'Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization.',NULL,NULL,NULL,NULL,NULL),(270,'UniProt Function',NULL,314,NULL,'Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CATSPER1 stability before intraflagellar transport and/or incorporation of the CatSper complex channel into the flagellar membrane.',NULL,NULL,NULL,NULL,NULL),(271,'UniProt Function',NULL,315,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution (By similarity).',NULL,NULL,NULL,NULL,NULL),(272,'UniProt Function',NULL,316,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution (By similarity).',NULL,NULL,NULL,NULL,NULL),(273,'UniProt Function',NULL,316,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(274,'UniProt Function',NULL,316,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(275,'UniProt Function',NULL,317,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.',NULL,NULL,NULL,NULL,NULL),(276,'UniProt Function',NULL,317,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(277,'UniProt Function',NULL,317,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(278,'UniProt Function',NULL,318,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution (By similarity).',NULL,NULL,NULL,NULL,NULL),(279,'UniProt Function',NULL,318,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(280,'UniProt Function',NULL,318,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(281,'UniProt Function',NULL,319,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(282,'UniProt Function',NULL,320,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.',NULL,NULL,NULL,NULL,NULL),(283,'UniProt Function',NULL,320,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(284,'UniProt Function',NULL,320,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(285,'UniProt Function',NULL,321,NULL,'Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). Directly binds tRNAs and probably acts by catalyzing adenylation of tRNAs, an intermediate required for 2-thiolation. It is unclear whether it acts as a sulfurtransferase that transfers sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position.',NULL,NULL,NULL,NULL,NULL),(286,'UniProt Function',NULL,322,NULL,'Component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA.',NULL,NULL,NULL,NULL,NULL),(287,'UniProt Function',NULL,328,NULL,'Down-regulates ESR1 protein levels through the ubiquitination-proteasome pathway, regardless of the presence of 17 beta-estradiol. Also involved in 17 beta-estradiol-induced ESR1 degradation. Controls PGR protein levels through a similar mechanism.',NULL,NULL,NULL,NULL,NULL),(288,'UniProt Function',NULL,329,NULL,'Core component of multiple SCF-like ECS (Elongin-Cullin 2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. ECS(SOCS1) seems to direct ubiquitination of JAK2. Seems to be involved in proteosomal degradation of p53/TP53 stimulated by adenovirus E1B-55 kDa protein. May form a cell surface vasopressin receptor.',NULL,NULL,NULL,NULL,NULL),(289,'UniProt Function',NULL,330,NULL,'Receptor for the C-X-C chemokine CXCL16. Used as a coreceptor by SIVs and by strains of HIV-2 and m-tropic HIV-1.',NULL,NULL,NULL,NULL,NULL),(290,'UniProt Function',NULL,331,NULL,'Cytokine that affects the growth, movement, or activation state of cells that participate in immune and inflammatory response. Chemotactic for activated T-cells. Binds to CXCR3.',NULL,NULL,NULL,NULL,NULL),(291,'UniProt Function',NULL,332,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(292,'UniProt Function',NULL,333,NULL,'Receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activate a phosphatidylinositol-calcium second messenger system. This receptor binds to IL-8 with a high affinity and to MGSA (GRO) with a low affinity.',NULL,NULL,NULL,NULL,NULL),(293,'UniProt Function',NULL,334,NULL,'Ferric-chelate reductase that reduces Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm. Probably uses ascorbate as electron donor (By similarity).',NULL,NULL,NULL,NULL,NULL),(294,'UniProt Function',NULL,336,NULL,'Plays a key role in the control of the eukaryotic cell cycle by modulating the centrosome cycle as well as mitotic onset; promotes G2-M transition, and regulates G1 progress and G1-S transition via association with multiple interphase cyclins. Required in higher cells for entry into S-phase and mitosis. Phosphorylates PARVA/actopaxin, APC, AMPH, APC, BARD1, Bcl-xL/BCL2L1, BRCA2, CALD1, CASP8, CDC7, CDC20, CDC25A, CDC25C, CC2D1A, CENPA, CSNK2 proteins/CKII, FZR1/CDH1, CDK7, CEBPB, CHAMP1, DMD/dystrophin, EEF1 proteins/EF-1, EZH2, KIF11/EG5, EGFR, FANCG, FOS, GFAP, GOLGA2/GM130, GRASP1, UBE2A/hHR6A, HIST1H1 proteins/histone H1, HMGA1, HIVEP3/KRC, LMNA, LMNB, LMNC, LBR, LATS1, MAP1B, MAP4, MARCKS, MCM2, MCM4, MKLP1, MYB, NEFH, NFIC, NPC/nuclear pore complex, PITPNM1/NIR2, NPM1, NCL, NUCKS1, NPM1/numatrin, ORC1, PRKAR2A, EEF1E1/p18, EIF3F/p47, p53/TP53, NONO/p54NRB, PAPOLA, PLEC/plectin, RB1, UL40/R2, RAB4A, RAP1GAP, RCC1, RPS6KB1/S6K1, KHDRBS1/SAM68, ESPL1, SKI, BIRC5/survivin, STIP1, TEX14, beta-tubulins, MAPT/TAU, NEDD1, VIM/vimentin, TK1, FOXO1, RUNX1/AML1, SAMHD1, SIRT2 and RUNX2. CDK1/CDC2-cyclin-B controls pronuclear union in interphase fertilized eggs. Essential for early stages of embryonic development. During G2 and early mitosis, CDC25A/B/C-mediated dephosphorylation activates CDK1/cyclin complexes which phosphorylate several substrates that trigger at least centrosome separation, Golgi dynamics, nuclear envelope breakdown and chromosome condensation. Once chromosomes are condensed and aligned at the metaphase plate, CDK1 activity is switched off by WEE1- and PKMYT1-mediated phosphorylation to allow sister chromatid separation, chromosome decondensation, reformation of the nuclear envelope and cytokinesis. Inactivated by PKR/EIF2AK2- and WEE1-mediated phosphorylation upon DNA damage to stop cell cycle and genome replication at the G2 checkpoint thus facilitating DNA repair. Reactivated after successful DNA repair through WIP1-dependent signaling leading to CDC25A/B/C-mediated dephosphorylation and restoring cell cycle progression. In proliferating cells, CDK1-mediated FOXO1 phosphorylation at the G2-M phase represses FOXO1 interaction with 14-3-3 proteins and thereby promotes FOXO1 nuclear accumulation and transcription factor activity, leading to cell death of postmitotic neurons. The phosphorylation of beta-tubulins regulates microtubule dynamics during mitosis. NEDD1 phosphorylation promotes PLK1-mediated NEDD1 phosphorylation and subsequent targeting of the gamma-tubulin ring complex (gTuRC) to the centrosome, an important step for spindle formation. In addition, CC2D1A phosphorylation regulates CC2D1A spindle pole localization and association with SCC1/RAD21 and centriole cohesion during mitosis. The phosphorylation of Bcl-xL/BCL2L1 after prolongated G2 arrest upon DNA damage triggers apoptosis. In contrast, CASP8 phosphorylation during mitosis prevents its activation by proteolysis and subsequent apoptosis. This phosphorylation occurs in cancer cell lines, as well as in primary breast tissues and lymphocytes. EZH2 phosphorylation promotes H3K27me3 maintenance and epigenetic gene silencing. CALD1 phosphorylation promotes Schwann cell migration during peripheral nerve regeneration. CDK1-cyclin-B complex phosphorylates NCKAP5L and mediates its dissociation from centrosomes during mitosis (PubMed:26549230).',NULL,NULL,NULL,NULL,NULL),(295,'UniProt Function',NULL,336,NULL,'(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry.',NULL,NULL,NULL,NULL,NULL),(296,'UniProt Function',NULL,338,NULL,'Important for the epidermal barrier integrity.',NULL,NULL,NULL,NULL,NULL),(297,'UniProt Function',NULL,339,NULL,'Provides CDP-diacylglycerol, an important precursor for the synthesis of phosphatidylinositol (PtdIns), phosphatidylglycerol, and cardiolipin. Overexpression may amplify cellular signaling responses from cytokines. May also play an important role in the signal transduction mechanism of retina and neural cells.',NULL,NULL,NULL,NULL,NULL),(298,'UniProt Function',NULL,340,NULL,'Centriole-enriched microtubule-binding protein involved in centriole biogenesis (PubMed:20844083, PubMed:25131205, PubMed:27185865). Essential for the generation of the distal portion of new-born centrioles in a CENPJ- and CEP120-mediated elongation dependent manner during the cell cycle S/G2 phase after formation of the initiating cartwheel structure (PubMed:27185865). Required for the recruitment of centriolar proteins, such as POC1B, POC5 and CEP135, into the distal portion of centrioles (PubMed:27185865). Also required for centriole-to-centrosome conversion during mitotic progression, but is dispensable for cartwheel removal or centriole disengagement (PubMed:25131205). Binds to and stabilizes centriolar microtubule (PubMed:27185865).',NULL,NULL,NULL,NULL,NULL),(299,'UniProt Function',NULL,341,NULL,'Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides.',NULL,NULL,NULL,NULL,NULL),(300,'UniProt Function',NULL,342,NULL,'Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPC recruits DNA methylation and DNMT3B to both centromeric and pericentromeric satellite repeats and regulates the histone code in these regions.',NULL,NULL,NULL,NULL,NULL),(301,'UniProt Function',NULL,343,NULL,'Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex.',NULL,NULL,NULL,NULL,NULL),(302,'UniProt Function',NULL,344,NULL,'RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Activates SM exon 5 inclusion by antagonizing the repressive effect of PTB. Promotes exclusion of exon 11 of the INSR pre-mRNA. Inhibits, together with HNRNPH1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Increases translation and controls the choice of translation initiation codon of CEBPB mRNA. Increases mRNA translation of CEBPB in aging liver (By similarity). Increases translation of CDKN1A mRNA by antagonizing the repressive effect of CALR3. Mediates rapid cytoplasmic mRNA deadenylation. Recruits the deadenylase PARN to the poly(A) tail of EDEN-containing mRNAs to promote their deadenylation. Required for completion of spermatogenesis (By similarity). Binds to (CUG)n triplet repeats in the 3\'-UTR of transcripts such as DMPK and to Bruno response elements (BREs). Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. Binds to AU-rich sequences (AREs or EDEN-like) localized in the 3\'-UTR of JUN and FOS mRNAs. Binds to the IR RNA. Binds to the 5\'-region of CDKN1A and CEBPB mRNAs. Binds with the 5\'-region of CEBPB mRNA in aging liver. May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF2, negatively regulates the processing to mature miRNA (PubMed:28431233).',NULL,NULL,NULL,NULL,NULL),(303,'UniProt Function',NULL,345,NULL,'Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Required for chromosome congression and efficiently align the chromosomes on a metaphase plate.',NULL,NULL,NULL,NULL,NULL),(304,'UniProt Function',NULL,346,NULL,'Regulates the p53 pathway to control the expansion growth of digestive organs.',NULL,NULL,NULL,NULL,NULL),(305,'UniProt Function',NULL,347,NULL,'Histone H3-like nucleosomal protein that is specifically found in centromeric nucleosomes (PubMed:7962047, PubMed:9024683, PubMed:11756469, PubMed:14667408, PubMed:15702419, PubMed:15475964, PubMed:15282608, PubMed:17651496, PubMed:19114591, PubMed:27499292, PubMed:20739937). Replaces conventional H3 in the nucleosome core of centromeric chromatin at the inner plate of the kinetochore (PubMed:18072184). The presence of CENPA subtly modifies the nucleosome structure and the way DNA is wrapped around the nucleosome and gives rise to protruding DNA ends that are less well-ordered and rigid compared to nucleosomes containing histone H3 (PubMed:27499292, PubMed:26878239). May serve as an epigenetic mark that propagates centromere identity through replication and cell division (PubMed:15475964, PubMed:15282608, PubMed:26878239, PubMed:20739937, PubMed:21478274). Required for recruitment and assembly of kinetochore proteins, and as a consequence required for progress through mitosis, chromosome segregation and cytokinesis (PubMed:11756469, PubMed:14667408, PubMed:18072184, PubMed:23818633, PubMed:25556658, PubMed:27499292).',NULL,NULL,NULL,NULL,NULL),(306,'UniProt Function',NULL,348,NULL,'RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.',NULL,NULL,NULL,NULL,NULL),(307,'UniProt Function',NULL,349,NULL,'Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly.',NULL,NULL,NULL,NULL,NULL),(308,'UniProt Function',NULL,350,NULL,'Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Plays an important role in the correct PLK1 localization to the mitotic kinetochores. A scaffold protein responsible for the initial recruitment and maintenance of the kinetochore PLK1 population until its degradation. Involved in transcriptional repression.',NULL,NULL,NULL,NULL,NULL),(309,'UniProt Function',NULL,351,NULL,'May be involved in sphingolipid synthesis or its regulation.',NULL,NULL,NULL,NULL,NULL),(310,'UniProt Function',NULL,354,NULL,'May play a role in sperm motility.',NULL,NULL,NULL,NULL,NULL),(311,'UniProt Function',NULL,356,NULL,'Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoproteins/VLDL, and the equimolar transport of triglyceride from VLDL to HDL (PubMed:3600759, PubMed:24293641). Regulates the reverse cholesterol transport, by which excess cholesterol is removed from peripheral tissues and returned to the liver for elimination (PubMed:17237796).',NULL,NULL,NULL,NULL,NULL),(312,'UniProt Function',NULL,357,NULL,'Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly (PubMed:24094744). Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity). May suppress canonical Wnt signaling activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(313,'UniProt Function',NULL,360,NULL,'May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons.',NULL,NULL,NULL,NULL,NULL),(314,'UniProt Function',NULL,362,NULL,'Carbohydrate-binding lectin with a preference for chitin. Has no chitinase activity. May play a role in tissue remodeling and in the capacity of cells to respond to and cope with changes in their environment. Plays a role in T-helper cell type 2 (Th2) inflammatory response and IL-13-induced inflammation, regulating allergen sensitization, inflammatory cell apoptosis, dendritic cell accumulation and M2 macrophage differentiation. Facilitates invasion of pathogenic enteric bacteria into colonic mucosa and lymphoid organs. Mediates activation of AKT1 signaling pathway and subsequent IL8 production in colonic epithelial cells. Regulates antibacterial responses in lung by contributing to macrophage bacterial killing, controlling bacterial dissemination and augmenting host tolerance. Also regulates hyperoxia-induced injury, inflammation and epithelial apoptosis in lung.',NULL,NULL,NULL,NULL,NULL),(315,'UniProt Function',NULL,363,NULL,'May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.',NULL,NULL,NULL,NULL,NULL),(316,'UniProt Function',NULL,365,NULL,'S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap1 2\'-O-ribose methylation to the 5\'-cap structure of mRNAs. Methylates the ribose of the first nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) to produce m(7)GpppRm (cap1). Displays a preference for cap0 transcripts. Cap1 modification is linked to higher levels of translation. May be involved in the interferon response pathway.',NULL,NULL,NULL,NULL,NULL),(317,'UniProt Function',NULL,366,NULL,'Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis.',NULL,NULL,NULL,NULL,NULL),(318,'UniProt Function',NULL,367,NULL,'May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity). Plays a role in the assembly of ryanodine receptor (RYR2) clusters in striated muscle (By similarity).',NULL,NULL,NULL,NULL,NULL),(319,'UniProt Function',NULL,370,NULL,'Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones.',NULL,NULL,NULL,NULL,NULL),(320,'UniProt Function',NULL,371,NULL,'May function as an adapter protein or regulator of Ras signaling pathways.',NULL,NULL,NULL,NULL,NULL),(321,'UniProt Function',NULL,372,NULL,'Probable metal transporter.',NULL,NULL,NULL,NULL,NULL),(322,'UniProt Function',NULL,373,NULL,'Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Is not required for association of CNOT7 to the CCR4-NOT complex.',NULL,NULL,NULL,NULL,NULL),(323,'UniProt Function',NULL,374,NULL,'Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity.',NULL,NULL,NULL,NULL,NULL),(324,'UniProt Function',NULL,375,NULL,'Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity.',NULL,NULL,NULL,NULL,NULL),(325,'UniProt Function',NULL,376,NULL,'Has 3\'-5\' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in the deadenylation-dependent degradation of mRNAs through the 3\'-UTR AU-rich element-mediated mechanism. Involved in deadenylation-dependent degradation of CDKN1B mRNA. Its mRNA deadenylase activity can be inhibited by TOB1. Mediates cell proliferation and cell survival and prevents cellular senescence.',NULL,NULL,NULL,NULL,NULL),(326,'UniProt Function',NULL,377,NULL,'Scaffolding component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Its scaffolding function implies its interaction with the catalytic complex module and diverse RNA-binding proteins mediating the complex recruitment to selected mRNA 3\'UTRs. Involved in degradation of AU-rich element (ARE)-containing mRNAs probably via association with ZFP36. Mediates the recruitment of the CCR4-NOT complex to miRNA targets and to the RISC complex via association with TNRC6A, TNRC6B or TNRC6C. Acts as a transcriptional repressor. Represses the ligand-dependent transcriptional activation by nuclear receptors. Involved in the maintenance of emryonic stem (ES) cell identity.',NULL,NULL,NULL,NULL,NULL),(327,'UniProt Function',NULL,378,NULL,'Positive regulator of neurite outgrowth by stabilizing myosin regulatory light chain (MRLC). It prevents MIR-mediated MRLC ubiquitination and its subsequent proteasomal degradation.',NULL,NULL,NULL,NULL,NULL),(328,'UniProt Function',NULL,379,NULL,'Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Required for the CCR4-NOT complex structural integrity. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may specifically involve the N-Cor repressor complex containing HDAC3, NCOR1 and NCOR2. Involved in the maintenance of emryonic stem (ES) cell identity.',NULL,NULL,NULL,NULL,NULL),(329,'UniProt Function',NULL,380,NULL,'Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory system (By similarity).',NULL,NULL,NULL,NULL,NULL),(330,'UniProt Function',NULL,381,NULL,'Probable metalloprotease which hydrolyzes cystinyl-bis-glycine. May be involved in meiosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(331,'UniProt Function',NULL,382,NULL,'Heterotrimeric G protein-coupled receptor for endocannabinoid 2-arachidonoylglycerol mediating inhibition of adenylate cyclase. May function in inflammatory response, nociceptive transmission and bone homeostasis.',NULL,NULL,NULL,NULL,NULL),(332,'UniProt Function',NULL,383,NULL,'May have an important role in developing neurons by participating in regulation of cell survival, possibly as a neurospecific transcription factor. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(333,'UniProt Function',NULL,384,NULL,'CNTF is a survival factor for various neuronal cell types. Seems to prevent the degeneration of motor axons after axotomy.',NULL,NULL,NULL,NULL,NULL),(334,'UniProt Function',NULL,385,NULL,'Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2 pathway.',NULL,NULL,NULL,NULL,NULL),(335,'UniProt Function',NULL,386,NULL,'This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(336,'UniProt Function',NULL,387,NULL,'Possible ATPase (PubMed:15653697) involved in DNA replication, may facilitate loading of CDC45 onto pre-replication complexes (PubMed:20065034).',NULL,NULL,NULL,NULL,NULL),(337,'UniProt Function',NULL,387,NULL,'An aminoacyl-tRNA editing enzyme that deacylates mischarged D-aminoacyl-tRNAs. Also deacylates mischarged glycyl-tRNA(Ala), protecting cells against glycine mischarging by AlaRS. Acts via tRNA-based rather than protein-based catalysis; rejects L-amino acids rather than detecting D-amino acids in the active site. By recycling D-aminoacyl-tRNA to D-amino acids and free tRNA molecules, this enzyme counteracts the toxicity associated with the formation of D-aminoacyl-tRNA entities in vivo and helps enforce protein L-homochirality.',NULL,NULL,NULL,NULL,NULL),(338,'UniProt Function',NULL,388,NULL,'Deacylates mischarged D-aminoacyl-tRNAs (By similarity). Probably acts by rejecting L-amino acids from its binding site rather than specific recognition of D-amino acids (By similarity). Catalyzes the hydrolysis of D-tyrosyl-tRNA(Tyr), has no activity on correctly charged L-tyrosyl-tRNA(Tyr) (By similarity). By recycling D-aminoacyl-tRNA to D-amino acids and free tRNA molecules, this enzyme counteracts the toxicity associated with the formation of D-aminoacyl-tRNA entities in vivo and helps enforce protein L-homochirality. In contrast to DTD1, deacylates L-Ala mischarged on tRNA(Thr)(G4.U69) by alanine-tRNA ligase AARS (PubMed:29410408). Can deacylate L-Ala due to a relaxed specificity for substrate chirality caused by the trans conformation of the Gly-Pro motif in the active site (PubMed:29410408). Also hydrolyzes correctly charged, achiral, glycyl-tRNA(Gly) in vitro, although in vivo EEF1A1/EF-Tu may protect cognate achiral glycyl-tRNA(Gly) from DTD2-mediated deacetylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(339,'UniProt Function',NULL,389,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(340,'UniProt Function',NULL,392,NULL,'Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes. Seems not to be required for CCC complex stability (PubMed:25355947).',NULL,NULL,NULL,NULL,NULL),(341,'UniProt Function',NULL,393,NULL,'Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone, the precursor of most steroid hormones.',NULL,NULL,NULL,NULL,NULL),(342,'UniProt Function',NULL,396,NULL,'Omega-hydroxylase that oxidizes a variety of structurally unrelated compounds, including fatty acids and xenobiotics. Plays a key role in vitamin K catabolism by mediating omega-hydroxylation of vitamin K1 (phylloquinone), and menaquinone-4 (MK-4), a form of vitamin K2. Hydroxylation of phylloquinone and MK-4 probably regulates blood coagulation (PubMed:24138531). Catalyzes omega-hydroxylation of 3-hydroxy fatty acids, such as 3-hydroxypalmitate, 3-hydroxyoleate, 3-hydroxyarachidonate, and 3-hydroxystearate (PubMed:18065749, PubMed:19932081). Oxidizes drugs such as erythromycin, benzphetamine, ethylmorphine, chlorpromazine and imipramine (PubMed:15364545).',NULL,NULL,NULL,NULL,NULL),(343,'UniProt Function',NULL,398,NULL,'Catalyzes leukotriene B4 omega-hydroxylation and arachidonic acid omega-hydroxylation but with an activity much lower than that of CYP4F2. Catalyzes the hydroxylation of the antihistamine ebastine.',NULL,NULL,NULL,NULL,NULL),(344,'UniProt Function',NULL,399,NULL,'Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(345,'UniProt Function',NULL,400,NULL,'Involved in ciliogenesis (PubMed:25877302). Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies (By similarity).',NULL,NULL,NULL,NULL,NULL),(346,'UniProt Function',NULL,401,NULL,'Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.',NULL,NULL,NULL,NULL,NULL),(347,'UniProt Function',NULL,402,NULL,'May be involved in the metabolism of various pneumotoxicants including naphthalene. Is able to dealkylate ethoxycoumarin, propoxycoumarin, and pentoxyresorufin but possesses no activity toward ethoxyresorufin and only trace dearylation activity toward benzyloxyresorufin. Bioactivates 3-methylindole (3MI) by dehydrogenation to the putative electrophile 3-methylene-indolenine.',NULL,NULL,NULL,NULL,NULL),(348,'UniProt Function',NULL,403,NULL,'Omega-hydroxylase that oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids and xenobiotics. Plays a key role in vitamin K catabolism by mediating omega-hydroxylation of vitamin K1 (phylloquinone), and menaquinone-4 (MK-4), a form of vitamin K2. Hydroxylation of phylloquinone and MK-4 probably regulates blood coagulation (PubMed:19297519, PubMed:24138531). Also shows arachidonic acid omega-hydroxylase activity in kidney, by mediating conversion of arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE), possibly influencing blood pressure control (PubMed:10660572, PubMed:17341693, PubMed:18574070). Also acts as a leukotriene-B(4) omega-hydroxylase by mediating conversion of leukotriene-B(4) (LTB4) to its omega-hydroxylated metabolite 20-hydroxyleukotriene-B(4) (20-OH LTB4) (PubMed:8026587, PubMed:9799565).',NULL,NULL,NULL,NULL,NULL),(349,'UniProt Function',NULL,404,NULL,'Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.',NULL,NULL,NULL,NULL,NULL),(350,'UniProt Function',NULL,406,NULL,'Seems to have broad catalytic activity towards several chemicals, including polycyclic aromatic hydrocarbon dihydrodiols and aromatic amines (PubMed:16551781, PubMed:24278521). Active also in the metabolism of indoline substrates and is able to activate aflatoxin B1 into cytotoxic products (PubMed:20805301). Furthermore, it seems to be involved in the oxydation of lysophospholipids and fatty acids (PubMed:22591743).',NULL,NULL,NULL,NULL,NULL),(351,'UniProt Function',NULL,408,NULL,'Sequence-specific RNA-binding protein which acts as a translational repressor in the basal unstimulated state but, following neuronal stimulation, acts as a translational activator (By similarity). In contrast to CPEB1, does not bind to the cytoplasmic polyadenylation element (CPE), a uridine-rich sequence element within the mRNA 3\'-UTR, but binds to a U-rich loop within a stem-loop structure (By similarity). Required for the consolidation and maintenance of hippocampal-based long term memory (By similarity). In the basal state, binds to the mRNA 3\'-UTR of the glutamate receptors GRIA2/GLUR2 mRNA and negatively regulates their translation (By similarity). Also represses the translation of DLG4, GRIN1, GRIN2A and GRIN2B (By similarity). When activated, acts as a translational activator of GRIA1 and GRIA2 (By similarity). In the basal state, suppresses SUMO2 translation but activates it following neuronal stimulation (By similarity). Binds to the 3\'-UTR of TRPV1 mRNA and represses TRPV1 translation which is required to maintain normal thermoception (By similarity). Binds actin mRNA, leading to actin translational repression in the basal state and to translational activation following neuronal stimulation (By similarity). Negatively regulates target mRNA levels by binding to TOB1 which recruits CNOT7/CAF1 to a ternary complex and this leads to target mRNA deadenylation and decay (PubMed:21336257). In addition to its role in translation, binds to and inhibits the transcriptional activation activity of STAT5B without affecting its dimerization or DNA-binding activity. This, in turn, represses transcription of the STAT5B target gene EGFR which has been shown to play a role in enhancing learning and memory performance (PubMed:20639532). In contrast to CPEB1, CPEB2 and CPEB4, not required for cell cycle progression (PubMed:26398195).',NULL,NULL,NULL,NULL,NULL),(352,'UniProt Function',NULL,409,NULL,'Negatively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles. Also involved in mast cell exocytosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(353,'UniProt Function',NULL,410,NULL,'Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism.',NULL,NULL,NULL,NULL,NULL),(354,'UniProt Function',NULL,411,NULL,'Sequence-specific RNA-binding protein that binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5\'-UUUUUAU-3\') within the mRNA 3\'-UTR (PubMed:24990967). RNA binding results in a clear conformational change analogous to the Venus fly trap mechanism (PubMed:24990967). Regulates activation of unfolded protein response (UPR) in the process of adaptation to ER stress in liver, by maintaining translation of CPE-regulated mRNAs in conditions in which global protein synthesis is inhibited (By similarity). Required for cell cycle progression, specifically for cytokinesis and chromosomal segregation (PubMed:26398195). Plays a role as an oncogene promoting tumor growth and progression by positively regulating translation of t-plasminogen activator/PLAT (PubMed:22138752). Stimulates proliferation of melanocytes (PubMed:27857118). In contrast to CPEB1 and CPEB3, does not play role in synaptic plasticity, learning and memory (By similarity).',NULL,NULL,NULL,NULL,NULL),(355,'UniProt Function',NULL,412,NULL,'May be responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It may be involved in the metabolism of codeine to morphine (PubMed:15051713). However, another study could not confirm it (PubMed:18838503).',NULL,NULL,NULL,NULL,NULL),(356,'UniProt Function',NULL,413,NULL,'Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate and palmitate. Shows no activity towards arachidonic acid and prostaglandin A1. Lacks functional activity in the kidney and does not contribute to renal 20-hydroxyeicosatetraenoic acid (20-HETE) biosynthesis.',NULL,NULL,NULL,NULL,NULL),(357,'UniProt Function',NULL,414,NULL,'Crystallins are the dominant structural components of the vertebrate eye lens.',NULL,NULL,NULL,NULL,NULL),(358,'UniProt Function',NULL,415,NULL,'Adapter protein that associates with PIDD1 and the caspase CASP2 to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis (PubMed:9044836, PubMed:15073321, PubMed:16652156, PubMed:17159900, PubMed:17289572). Also recruits CASP2 to the TNFR-1 signaling complex through its interaction with RIPK1 and TRADD and may play a role in the tumor necrosis factor-mediated signaling pathway (PubMed:8985253).',NULL,NULL,NULL,NULL,NULL),(359,'UniProt Function',NULL,416,NULL,'Promotes matrix assembly.',NULL,NULL,NULL,NULL,NULL),(360,'UniProt Function',NULL,418,NULL,'May play a role in the negative regulation of cell cycle progression.',NULL,NULL,NULL,NULL,NULL),(361,'UniProt Function',NULL,419,NULL,'Contributes to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.',NULL,NULL,NULL,NULL,NULL),(362,'UniProt Function',NULL,422,NULL,'Cytokine that stimulates the growth and differentiation of hematopoietic precursor cells from various lineages, including granulocytes, macrophages, eosinophils and erythrocytes.',NULL,NULL,NULL,NULL,NULL),(363,'UniProt Function',NULL,423,NULL,'Probable catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Amplification-dependent oncogene; promotes cell proliferation and tumorigenesis by down-regulating expression of the tumor suppressor protein, PML. May play a role in the pathogenesis of the lung cancer development and progression.',NULL,NULL,NULL,NULL,NULL),(364,'UniProt Function',NULL,424,NULL,'May link the scaffolding protein CASK to downstream intracellular effectors.',NULL,NULL,NULL,NULL,NULL),(365,'UniProt Function',NULL,425,NULL,'Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1.',NULL,NULL,NULL,NULL,NULL),(366,'UniProt Function',NULL,426,NULL,'Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C-terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN, CSK or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. To inhibit SFKs, CSK is recruited to the plasma membrane via binding to transmembrane proteins or adapter proteins located near the plasma membrane. Suppresses signaling by various surface receptors, including T-cell receptor (TCR) and B-cell receptor (BCR) by phosphorylating and maintaining inactive several positive effectors such as FYN or LCK.',NULL,NULL,NULL,NULL,NULL),(367,'UniProt Function',NULL,428,NULL,'High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues.',NULL,NULL,NULL,NULL,NULL),(368,'UniProt Function',NULL,429,NULL,'Involved in the transport of the cationic amino acids (arginine, lysine and ornithine).',NULL,NULL,NULL,NULL,NULL),(369,'UniProt Function',NULL,430,NULL,'Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.',NULL,NULL,NULL,NULL,NULL),(370,'UniProt Function',NULL,432,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.',NULL,NULL,NULL,NULL,NULL),(371,'UniProt Function',NULL,432,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(372,'UniProt Function',NULL,432,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(373,'UniProt Function',NULL,433,NULL,'Involved in the regulation of glucose homeostasis and lipid metabolism.',NULL,NULL,NULL,NULL,NULL),(374,'UniProt Function',NULL,434,NULL,'Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization.',NULL,NULL,NULL,NULL,NULL),(375,'UniProt Function',NULL,435,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.',NULL,NULL,NULL,NULL,NULL),(376,'UniProt Function',NULL,435,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(377,'UniProt Function',NULL,435,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(378,'UniProt Function',NULL,436,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(379,'UniProt Function',NULL,436,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(380,'UniProt Function',NULL,436,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(381,'UniProt Function',NULL,438,NULL,'May be required for sperm motility and function.',NULL,NULL,NULL,NULL,NULL),(382,'UniProt Function',NULL,439,NULL,'Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition subunit. CUL4B may act within the complex as a scaffold protein, contributing to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. Plays a role as part of the E3 ubiquitin-protein ligase complex in polyubiquitination of CDT1, histone H2A, histone H3 and histone H4 in response to radiation-induced DNA damage. Targeted to UV damaged chromatin by DDB2 and may be important for DNA repair and DNA replication. Required for ubiquitination of cyclin E, and consequently, normal G1 cell cycle progression. Regulates the mammalian target-of-rapamycin (mTOR) pathway involved in control of cell growth, size and metabolism. Specific CUL4B regulation of the mTORC1-mediated pathway is dependent upon 26S proteasome function and requires interaction between CUL4B and MLST8.',NULL,NULL,NULL,NULL,NULL),(383,'UniProt Function',NULL,440,NULL,'CUZD1 antiserum inhibits cell attachment and proliferation of ovarian cancer cells so may be involved in these processes. May also play a role in the uterus during late pregnancy and/or in trypsin activation in pancreatic acinar cells.',NULL,NULL,NULL,NULL,NULL),(384,'UniProt Function',NULL,448,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:28076346). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(385,'UniProt Function',NULL,449,NULL,'Required for pre-mRNA splicing and for exon-junction complex (EJC) assembly. Hinders EIF4A3 from non-specifically binding RNA and escorts it to the splicing machinery to promote EJC assembly on mature mRNAs. Through its role in EJC assembly, required for nonsense-mediated mRNA decay.',NULL,NULL,NULL,NULL,NULL),(386,'UniProt Function',NULL,450,NULL,'As part of the spliceosome, plays a role in pre-mRNA splicing (PubMed:29360106). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357).',NULL,NULL,NULL,NULL,NULL),(387,'UniProt Function',NULL,457,NULL,'May have an important role of cell protection in inflammation reaction.',NULL,NULL,NULL,NULL,NULL),(388,'UniProt Function',NULL,460,NULL,'Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 24 minutes and play a role in control of the ultradian cellular biological clock.',NULL,NULL,NULL,NULL,NULL),(389,'UniProt Function',NULL,463,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(390,'UniProt Function',NULL,464,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(391,'UniProt Function',NULL,465,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(392,'UniProt Function',NULL,466,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a role in myelination in central and peripheral nervous systems.',NULL,NULL,NULL,NULL,NULL),(393,'UniProt Function',NULL,467,NULL,'One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.',NULL,NULL,NULL,NULL,NULL),(394,'UniProt Function',NULL,468,NULL,'Chemotactic for monocytes and T-lymphocytes. Binds to CXCR3.',NULL,NULL,NULL,NULL,NULL),(395,'UniProt Function',NULL,469,NULL,'Acts as a scavenger receptor on macrophages, which specifically binds to OxLDL (oxidized low density lipoprotein), suggesting that it may be involved in pathophysiology such as atherogenesis (By similarity). Induces a strong chemotactic response. Induces calcium mobilization. Binds to CXCR6/Bonzo.',NULL,NULL,NULL,NULL,NULL),(396,'UniProt Function',NULL,470,NULL,'This is the heme-containing component of the cytochrome b-c1 complex, which accepts electrons from Rieske protein and transfers electrons to cytochrome c in the mitochondrial respiratory chain.',NULL,NULL,NULL,NULL,NULL),(397,'UniProt Function',NULL,471,NULL,'Acts as a negative regulator of the Wnt signaling pathway via its interaction with DVL1.',NULL,NULL,NULL,NULL,NULL),(398,'UniProt Function',NULL,472,NULL,'Monokine with inflammatory and chemokinetic properties. Binds to CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant MIP-1-beta induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form MIP-1-beta(3-69) retains the abilities to induce down-modulation of surface expression of the chemokine receptor CCR5 and to inhibit the CCR5-mediated entry of HIV-1 in T-cells. MIP-1-beta(3-69) is also a ligand for CCR1 and CCR2 isoform B.',NULL,NULL,NULL,NULL,NULL),(399,'UniProt Function',NULL,473,NULL,'Receptor for chemokine SCYA25/TECK. Subsequently transduces a signal by increasing the intracellular calcium ions level.',NULL,NULL,NULL,NULL,NULL),(400,'UniProt Function',NULL,473,NULL,'(Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.',NULL,NULL,NULL,NULL,NULL),(401,'UniProt Function',NULL,474,NULL,'Required in cooperation with CD79A for initiation of the signal transduction cascade activated by the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Enhances phosphorylation of CD79A, possibly by recruiting kinases which phosphorylate CD79A or by recruiting proteins which bind to CD79A and protect it from dephosphorylation.',NULL,NULL,NULL,NULL,NULL),(402,'UniProt Function',NULL,475,NULL,'Receptor for hyaluronic acid (HA). Mediates cell-cell and cell-matrix interactions through its affinity for HA, and possibly also through its affinity for other ligands such as osteopontin, collagens, and matrix metalloproteinases (MMPs). Adhesion with HA plays an important role in cell migration, tumor growth and progression. In cancer cells, may play an important role in invadopodia formation. Also involved in lymphocyte activation, recirculation and homing, and in hematopoiesis. Altered expression or dysfunction causes numerous pathogenic phenotypes. Great protein heterogeneity due to numerous alternative splicing and post-translational modification events. Receptor for LGALS9; the interaction enhances binding of SMAD3 to the FOXP3 promoter, leading to up-regulation of FOXP3 expression and increased induced regulatory T (iTreg) cell stability and suppressive function (By similarity).',NULL,NULL,NULL,NULL,NULL),(403,'UniProt Function',NULL,476,NULL,'Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and \'Ser-2\'- and \'Ser-5\'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 \'Lys-4\' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of \'Lys-120\' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3\' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the cleavage and polyadenylation specificity factor (CPSF) complex and the cleavage stimulation factor (CSTF) complex, and with Wnt signaling. Involved in polyadenylation of mRNA precursors.',NULL,NULL,NULL,NULL,NULL),(404,'UniProt Function',NULL,477,NULL,'May play a role in carrying and orienting carbohydrate, as well as having a more specific role.',NULL,NULL,NULL,NULL,NULL),(405,'UniProt Function',NULL,480,NULL,'Initiates several important metabolic pathways related to pyruvate and several sulfurate compounds including sulfate, hypotaurine and taurine. Critical regulator of cellular cysteine concentrations. Has an important role in maintaining the hepatic concentation of intracellular free cysteine within a proper narrow range.',NULL,NULL,NULL,NULL,NULL),(406,'UniProt Function',NULL,481,NULL,'Has histone acetyltransferase activity, with a preference for histone H4.',NULL,NULL,NULL,NULL,NULL),(407,'UniProt Function',NULL,484,NULL,'Plays a role in the organization of both preexisting and nascent microtubules in interphase cells. During mitosis, required for the organization and orientation of the mitotic spindle.',NULL,NULL,NULL,NULL,NULL),(408,'UniProt Function',NULL,485,NULL,'As part of the central apparatus of the cilium axoneme plays a role in cilium movement.',NULL,NULL,NULL,NULL,NULL),(409,'UniProt Function',NULL,486,NULL,'E3 ubiquitin-protein ligase that functions in the antephase checkpoint by actively delaying passage into mitosis in response to microtubule poisons. Acts in early prophase before chromosome condensation, when the centrosome move apart from each other along the periphery of the nucleus. Probably involved in signaling the presence of mitotic stress caused by microtubule poisons by mediating the \'Lys-48\'-linked ubiquitination of target proteins, leading to their degradation by the proteasome. Promotes the ubiquitination and subsequent degradation of AURKA and PLK1. Probably acts as a tumor suppressor, possibly by mediating the polyubiquitination of HDAC1, leading to its degradation. May also promote the formation of \'Lys-63\'-linked polyubiquitin chains and functions with the specific ubiquitin-conjugating UBC13-MMS2 (UBE2N-UBE2V2) heterodimer. Substrates that are polyubiquitinated at \'Lys-63\' are usually not targeted for degradation, but are rather involved in signaling cellular stress.',NULL,NULL,NULL,NULL,NULL),(410,'UniProt Function',NULL,488,NULL,'Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788).',NULL,NULL,NULL,NULL,NULL),(411,'UniProt Function',NULL,489,NULL,'May function as a co-chaperone towards HSPA9/mortalin which, by itself, is prone to self-aggregation.',NULL,NULL,NULL,NULL,NULL),(412,'UniProt Function',NULL,490,NULL,'Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization into membrane-associated tubular structures that wrap around the scission site to constrict and sever the mitochondrial membrane through a GTP hydrolysis-dependent mechanism. The specific recruitment at scission sites is mediated by membrane receptors like MFF, MIEF1 and MIEF2 for mitochondrial membranes (PubMed:29899447). While the recruitment by the membrane receptors is GTP-dependent, the following hydrolysis of GTP induces the dissociation from the receptors and allows DNM1L filaments to curl into closed rings that are probably sufficient to sever a double membrane (PubMed:29899447). Through its function in mitochondrial division, ensures the survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative damage. Required for normal brain development, including that of cerebellum. Facilitates developmentally regulated apoptosis during neural tube formation. Required for a normal rate of cytochrome c release and caspase activation during apoptosis; this requirement may depend upon the cell type and the physiological apoptotic cues. Plays an important role in mitochondrial fission during mitosis (PubMed:26992161, PubMed:27301544, PubMed:27328748). Required for formation of endocytic vesicles. Proposed to regulate synaptic vesicle membrane dynamics through association with BCL2L1 isoform Bcl-X(L) which stimulates its GTPase activity in synaptic vesicles; the function may require its recruitment by MFF to clathrin-containing vesicles. Required for programmed necrosis execution.',NULL,NULL,NULL,NULL,NULL),(413,'UniProt Function',NULL,490,NULL,'Isoform 1: Inhibits peroxisomal division when overexpressed.',NULL,NULL,NULL,NULL,NULL),(414,'UniProt Function',NULL,490,NULL,'Isoform 4: Inhibits peroxisomal division when overexpressed.',NULL,NULL,NULL,NULL,NULL),(415,'UniProt Function',NULL,491,NULL,'Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimethylated \'Lys-36\' of histone H3 (H3K36me3) sites. Can actively repress transcription through the recruitment of HDAC activity.',NULL,NULL,NULL,NULL,NULL),(416,'UniProt Function',NULL,492,NULL,'Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Function as transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells (PubMed:27153398).',NULL,NULL,NULL,NULL,NULL),(417,'UniProt Function',NULL,493,NULL,'Catalytically inactive regulatory factor of DNA methyltransferases that can either promote or inhibit DNA methylation depending on the context (By similarity). Essential for the function of DNMT3A and DNMT3B: activates DNMT3A and DNMT3B by binding to their catalytic domain (PubMed:17687327). Acts by accelerating the binding of DNA and S-adenosyl-L-methionine (AdoMet) to the methyltransferases and dissociates from the complex after DNA binding to the methyltransferases (PubMed:17687327). Recognizes unmethylated histone H3 lysine 4 (H3K4me0) and induces de novo DNA methylation by recruitment or activation of DNMT3 (PubMed:17687327). Plays a key role in embryonic stem cells and germ cells (By similarity). In germ cells, required for the methylation of imprinted loci together with DNMT3A (By similarity). In male germ cells, specifically required to methylate retrotransposons, preventing their mobilization (By similarity). Plays a key role in embryonic stem cells (ESCs) by acting both as an positive and negative regulator of DNA methylation (By similarity). While it promotes DNA methylation of housekeeping genes together with DNMT3A and DNMT3B, it also acts as an inhibitor of DNA methylation at the promoter of bivalent genes (By similarity). Interacts with the EZH2 component of the PRC2/EED-EZH2 complex, preventing interaction of DNMT3A and DNMT3B with the PRC2/EED-EZH2 complex, leading to maintain low methylation levels at the promoters of bivalent genes (By similarity). Promotes differentiation of ESCs into primordial germ cells by inhibiting DNA methylation at the promoter of RHOX5, thereby activating its expression (By similarity).',NULL,NULL,NULL,NULL,NULL),(418,'UniProt Function',NULL,494,NULL,'Scaffold protein that links dynamin with actin-regulating proteins. May play a role in membrane trafficking between the cell surface and the Golgi (By similarity).',NULL,NULL,NULL,NULL,NULL),(419,'UniProt Function',NULL,495,NULL,'Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication. It is responsible for maintaining methylation patterns established in development. DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct binding to HDAC2. In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306). Promotes tumor growth (PubMed:24623306).',NULL,NULL,NULL,NULL,NULL),(420,'UniProt Function',NULL,496,NULL,'Aminopeptidase with specificity towards an acidic amino acid at the N-terminus. Likely to play an important role in intracellular protein and peptide metabolism.',NULL,NULL,NULL,NULL,NULL),(421,'UniProt Function',NULL,497,NULL,'Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5\'-monophosphates to yield deoxyribose 5-phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5\'-monophosphates containing purine bases are preferred to those containing pyrimidine bases.',NULL,NULL,NULL,NULL,NULL),(422,'UniProt Function',NULL,498,NULL,'Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the degradation of nuclear DNA in cellular apoptosis during development. Necessary for proper fetal development and for definitive erythropoiesis in fetal liver, where it degrades nuclear DNA expelled from erythroid precursor cells.',NULL,NULL,NULL,NULL,NULL),(423,'UniProt Function',NULL,500,NULL,'Has DNA hydrolytic activity. Is capable of both single- and double-stranded DNA cleavage, producing DNA fragments with 3\'-OH ends (By similarity). Can cleave chromatin to nucleosomal units and cleaves nucleosomal and liposome-coated DNA (PubMed:9070308, PubMed:9714828, PubMed:14646506, PubMed:10807908, PubMed:27293190). Acts in internucleosomal DNA fragmentation (INDF) during apoptosis and necrosis (PubMed:23229555, PubMed:24312463). The role in apoptosis includes myogenic and neuronal differentiation, and BCR-mediated clonal deletion of self-reactive B cells (By similarity). Is active on chromatin in apoptotic cell-derived membrane-coated microparticles and thus suppresses anti-DNA autoimmunity (PubMed:27293190). Together with DNASE1, plays a key role in degrading neutrophil extracellular traps (NETs) (By similarity). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By similarity). Degradation of intravascular NETs by DNASE1 and DNASE1L3 is required to prevent formation of clots that obstruct blood vessels and cause organ damage following inflammation (By similarity).',NULL,NULL,NULL,NULL,NULL),(424,'UniProt Function',NULL,501,NULL,'Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM.',NULL,NULL,NULL,NULL,NULL),(425,'UniProt Function',NULL,502,NULL,'Guanine nucleotide-exchange factor (GEF) that activates CDC42 and RAC1 by exchanging bound GDP for free GTP. Essential for dendritic spine morphogenesis in Purkinje cells and in hippocampal neurons, via a CDC42-mediated pathway. Sustains B-cell lymphopoiesis in secondary lymphoid tissues and regulates FCER2/CD23 expression.',NULL,NULL,NULL,NULL,NULL),(426,'UniProt Function',NULL,503,NULL,'Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Required for marginal zone (MZ) B-cell development, is associated with early bone marrow B-cell development, MZ B-cell formation, MZ B-cell number and marginal metallophilic macrophages morphology. Facilitates filopodia formation through the activation of CDC42.',NULL,NULL,NULL,NULL,NULL),(427,'UniProt Function',NULL,504,NULL,'Calcium sensor which positively regulates SNARE-dependent fusion of vesicles with membranes. Binds phospholipids in a calcium-dependent manner and may act at the priming stage of fusion by modifying membrane curvature to stimulate fusion. Involved in calcium-triggered exocytosis in chromaffin cells and calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Involved both in glucose-stimulated insulin secretion in pancreatic cells and insulin-dependent GLUT4 transport to the plasma membrane in adipocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(428,'UniProt Function',NULL,505,NULL,'Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen (PubMed:19004829). Functions as a guanine nucleotide exchange factor (GEF), which activates Rac Rho small GTPases by exchanging bound GDP for free GTP. Its GEF activity may be enhanced by ELMO1 (PubMed:8657152).',NULL,NULL,NULL,NULL,NULL),(429,'UniProt Function',NULL,506,NULL,'Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells decreases the secretion of amyloid-beta APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell adhesion receptors (By similarity).',NULL,NULL,NULL,NULL,NULL),(430,'UniProt Function',NULL,507,NULL,'Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 \'Ser-15\' phosphorylation during axon formation and consequently for neuronal polarization (PubMed:16982419). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(431,'UniProt Function',NULL,509,NULL,'Transcriptional activator. May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(432,'UniProt Function',NULL,510,NULL,'Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.',NULL,NULL,NULL,NULL,NULL),(433,'UniProt Function',NULL,511,NULL,'Regulatory subunit of the condensin-2 complex, a complex that seems to provide chromosomes with an additional level of organization and rigidity and in establishing mitotic chromosome architecture (PubMed:14532007). May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Required for decatenation of chromatin bridges at anaphase. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (By similarity). Seems to have lineage-specific role in T-cell development (PubMed:14532007).',NULL,NULL,NULL,NULL,NULL),(434,'UniProt Function',NULL,512,NULL,'Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression.',NULL,NULL,NULL,NULL,NULL),(435,'UniProt Function',NULL,524,NULL,'May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in central nervous system myelin.',NULL,NULL,NULL,NULL,NULL),(436,'UniProt Function',NULL,525,NULL,'Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. May target the condensin complex to DNA via its C-terminal domain (PubMed:11136719). May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Required for decatenation of non-centromeric ultrafine DNA bridges during anaphase. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959).',NULL,NULL,NULL,NULL,NULL),(437,'UniProt Function',NULL,526,NULL,'Required for hepatocyte growth factor (HGF)-dependent activation of Arf6 and HGF-stimulated cell migration.',NULL,NULL,NULL,NULL,NULL),(438,'UniProt Function',NULL,527,NULL,'Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones.',NULL,NULL,NULL,NULL,NULL),(439,'UniProt Function',NULL,528,NULL,'Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity).',NULL,NULL,NULL,NULL,NULL),(440,'UniProt Function',NULL,529,NULL,'In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion.',NULL,NULL,NULL,NULL,NULL),(441,'UniProt Function',NULL,530,NULL,'Hydrolyzes a wide range of dipeptides. Implicated in the renal metabolism of glutathione and its conjugates. Converts leukotriene D4 to leukotriene E4; it may play an important role in the regulation of leukotriene activity.',NULL,NULL,NULL,NULL,NULL),(442,'UniProt Function',NULL,531,NULL,'Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis.',NULL,NULL,NULL,NULL,NULL),(443,'UniProt Function',NULL,532,NULL,'Contactins mediate cell surface interactions during nervous system development. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Involved in motor coordination (By similarity).',NULL,NULL,NULL,NULL,NULL),(444,'UniProt Function',NULL,533,NULL,'Has 3\'-5\' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Its function seems to be partially redundant with that of CNOT8. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. During miRNA-mediated repression the complex seems also to act as translational repressor during translational initiation. Additional complex functions may be a consequence of its influence on mRNA expression. Associates with members of the BTG family such as TOB1 and BTG2 and is required for their anti-proliferative activity.',NULL,NULL,NULL,NULL,NULL),(445,'UniProt Function',NULL,536,NULL,'Presynaptic protein involved in both dopaminergic synaptic transmission and GABAergic system, thereby participating in the structural maturation of inhibitory interneuron synapses. Involved in the dopaminergic synaptic transmission by attenuating dopamine release through a presynaptic mechanism. Also participates in the GABAergic system (By similarity).',NULL,NULL,NULL,NULL,NULL),(446,'UniProt Function',NULL,539,NULL,'Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.',NULL,NULL,NULL,NULL,NULL),(447,'UniProt Function',NULL,540,NULL,'Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a \'chicken-wire\' meshwork together with laminins, proteoglycans and entactin/nidogen.',NULL,NULL,NULL,NULL,NULL),(448,'UniProt Function',NULL,540,NULL,'Canstatin, a cleavage product corresponding to the collagen alpha 2(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity. It inhibits proliferation and migration of endothelial cells, reduces mitochondrial membrane potential, and induces apoptosis. Specifically induces Fas-dependent apoptosis and activates procaspase-8 and -9 activity. Ligand for alphavbeta3 and alphavbeta5 integrins.',NULL,NULL,NULL,NULL,NULL),(449,'UniProt Function',NULL,541,NULL,'Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.',NULL,NULL,NULL,NULL,NULL),(450,'UniProt Function',NULL,542,NULL,'Plays an important role in cell division and centrosome function by participating in centriole duplication (PubMed:17681131, PubMed:20531387). Inhibits microtubule nucleation from the centrosome. Involved in the regulation of slow processive growth of centriolar microtubules. Acts as microtubule plus-end tracking protein that stabilizes centriolar microtubules and inhibits microtubule polymerization and extension from the distal ends of centrioles (PubMed:15047868, PubMed:27219064, PubMed:27306797). Required for centriole elongation and for STIL-mediated centriole amplification (PubMed:22020124). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865). May be involved in the control of centriolar-microtubule growth by acting as a regulator of tubulin release (PubMed:27306797).',NULL,NULL,NULL,NULL,NULL),(451,'UniProt Function',NULL,543,NULL,'Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Part of a nucleosome-associated complex that binds specifically to histone H3-containing nucleosomes at the centromere, as opposed to nucleosomes containing CENPA. Component of the heterotetrameric CENP-T-W-S-X complex that binds and supercoils DNA, and plays an important role in kinetochore assembly. CENPT has a fundamental role in kinetochore assembly and function. It is one of the inner kinetochore proteins, with most further proteins binding downstream. Required for normal chromosome organization and normal progress through mitosis.',NULL,NULL,NULL,NULL,NULL),(452,'UniProt Function',NULL,544,NULL,'Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex.',NULL,NULL,NULL,NULL,NULL),(453,'UniProt Function',NULL,545,NULL,'Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.',NULL,NULL,NULL,NULL,NULL),(454,'UniProt Function',NULL,546,NULL,'Required for distribution of pericentromeric heterochromatin in interphase nuclei and for centromere formation and organization, chromosome alignment and cytokinesis.',NULL,NULL,NULL,NULL,NULL),(455,'UniProt Function',NULL,547,NULL,'Has no esterase activity.',NULL,NULL,NULL,NULL,NULL),(456,'UniProt Function',NULL,548,NULL,'May regulate cilium motility through its role in the assembly of the axonemal radial spokes.',NULL,NULL,NULL,NULL,NULL),(457,'UniProt Function',NULL,549,NULL,'Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway.',NULL,NULL,NULL,NULL,NULL),(458,'UniProt Function',NULL,550,NULL,'Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively.',NULL,NULL,NULL,NULL,NULL),(459,'UniProt Function',NULL,551,NULL,'Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1.',NULL,NULL,NULL,NULL,NULL),(460,'UniProt Function',NULL,552,NULL,'Involved in maintenance of centrosome cohesion, probably as part of a linker structure which prevents centrosome splitting (PubMed:18042621). Required for localization of CDK5RAP2 to the centrosome during interphase (PubMed:24554434, PubMed:25503564).',NULL,NULL,NULL,NULL,NULL),(461,'UniProt Function',NULL,554,NULL,'Mediates cell-cell adhesion in a calcium-dependent manner (By similarity). Able to inhibit growth in several cell lines.',NULL,NULL,NULL,NULL,NULL),(462,'UniProt Function',NULL,555,NULL,'Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. Involved in the regulation of the size and morphology of cilia (PubMed:24414207). Required for axonemal microtubules polyglutamylation (PubMed:24414207).',NULL,NULL,NULL,NULL,NULL),(463,'UniProt Function',NULL,556,NULL,'Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore.',NULL,NULL,NULL,NULL,NULL),(464,'UniProt Function',NULL,557,NULL,'Chromatin-remodeling protein that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated \'Lys-27\' (H3K27me3) and non-methylated \'Lys-4\' of histone H3. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at \'Lys-27\' thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Tumor suppressor, it regulates the expression of genes involved in cell proliferation and differentiation. Downstream activated genes may include CDKN2A that positively regulates the p53/TP53 pathway, which in turn, prevents cell proliferation. In spermatogenesis, it probably regulates histone hyperacetylation and the replacement of histones by transition proteins in chromatin, a crucial step in the condensation of spermatid chromatin and the production of functional spermatozoa.',NULL,NULL,NULL,NULL,NULL),(465,'UniProt Function',NULL,558,NULL,'DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription.',NULL,NULL,NULL,NULL,NULL),(466,'UniProt Function',NULL,559,NULL,'Acts as a transcriptional coactivator for PPARA and possibly other nuclear receptors. Proposed to be a ATP-dependent chromatin remodeling protein. Has DNA-dependent ATPase activity and binds to A/T-rich DNA. Associates with A/T-rich regulatory regions in promoters of genes that participate in the differentiation of progenitors during osteogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(467,'UniProt Function',NULL,562,NULL,'Putative transcription factor.',NULL,NULL,NULL,NULL,NULL),(468,'UniProt Function',NULL,563,NULL,'Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10.',NULL,NULL,NULL,NULL,NULL),(469,'UniProt Function',NULL,564,NULL,'Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. May play a role in the assembly of N-DRC. May be required for sperm motility.',NULL,NULL,NULL,NULL,NULL),(470,'UniProt Function',NULL,565,NULL,'Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(471,'UniProt Function',NULL,566,NULL,'Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Involved in the regulation of flagellar motility.',NULL,NULL,NULL,NULL,NULL),(472,'UniProt Function',NULL,567,NULL,'Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.',NULL,NULL,NULL,NULL,NULL),(473,'UniProt Function',NULL,568,NULL,'Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Binds calmodulin when cellular Ca(2+) levels are low and thereby contributes to the regulation of calcium and calmodulin-dependent protein kinase IV (CAMK4) activity; contributes to the regulation of CAMK4 signaling cascades. Required for normal axoneme assembly in sperm flagella, normal sperm tail formation and for male fertility.',NULL,NULL,NULL,NULL,NULL),(474,'UniProt Function',NULL,569,NULL,'Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase.',NULL,NULL,NULL,NULL,NULL),(475,'UniProt Function',NULL,570,NULL,'Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase.',NULL,NULL,NULL,NULL,NULL),(476,'UniProt Function',NULL,572,NULL,'Dopamine receptor responsible for neuronal signaling in the mesolimbic system of the brain, an area of the brain that regulates emotion and complex behavior. Activated by dopamine, but also by epinephrine and norepinephrine, and by numerous synthetic agonists and drugs (PubMed:9003072, PubMed:16423344, PubMed:27659709, PubMed:29051383). Agonist binding triggers signaling via G proteins that inhibit adenylyl cyclase (PubMed:7512953, PubMed:7643093, PubMed:16423344, PubMed:27659709, PubMed:29051383). Modulates the circadian rhythm of contrast sensitivity by regulating the rhythmic expression of NPAS2 in the retinal ganglion cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(477,'UniProt Function',NULL,573,NULL,'Involved in the bile acid metabolism. Has a preference for 24-hydroxycholesterol, and converts it into a 7-alpha-hydroxylated product.',NULL,NULL,NULL,NULL,NULL),(478,'UniProt Function',NULL,574,NULL,'Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It performs a variety of oxidation reactions (e.g. caffeine 8-oxidation, omeprazole sulphoxidation, midazolam 1\'-hydroxylation and midazolam 4-hydroxylation) of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,8-cineole 2-exo-monooxygenase. The enzyme also hydroxylates etoposide (PubMed:11159812). Catalyzes 4-beta-hydroxylation of cholesterol. May catalyze 25-hydroxylation of cholesterol in vitro (PubMed:21576599).',NULL,NULL,NULL,NULL,NULL),(479,'UniProt Function',NULL,575,NULL,'May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation.',NULL,NULL,NULL,NULL,NULL),(480,'UniProt Function',NULL,576,NULL,'Membrane immune adherence receptor that plays a critical role in the capture and clearance of complement-opsonized pathogens by erythrocytes and monocytes/macrophages (PubMed:2963069). Mediates the binding by these cells of particles and immune complexes that have activated complement to eliminate them from the circulation (PubMed:2963069). Acts also in the inhibition of spontaneous complement activation by impairing the formation and function of the alternative and classical pathway C3/C5 convertases, and by serving as a cofactor for the cleavage by factor I of C3b to iC3b, C3c and C3d,g, and of C4b to C4c and C4d (PubMed:2972794, PubMed:8175757). Plays also a role in immune regulation by contributing, upon ligand binding, to the generation of regulatory T cells from activated helper T cells (PubMed:25742728).',NULL,NULL,NULL,NULL,NULL),(481,'UniProt Function',NULL,576,NULL,'(Microbial infection) Acts as a receptor for Epstein-Barr virus.',NULL,NULL,NULL,NULL,NULL),(482,'UniProt Function',NULL,577,NULL,'Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,4-cineole 2-exo-monooxygenase.',NULL,NULL,NULL,NULL,NULL),(483,'UniProt Function',NULL,578,NULL,'Transcription factor involved in unfolded protein response (UPR). Binds the DNA consensus sequence 5\'-GTGXGCXGC-3\' (PubMed:21767813). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in bone formation through the transcription of COL1A1, and possibly COL1A2, and the secretion of bone matrix proteins. Directly binds to the UPR element (UPRE)-like sequence in an osteoblast-specific COL1A1 promoter region and induces its transcription. Does not regulate COL1A1 in other tissues, such as skin (By similarity). Required to protect astrocytes from ER stress-induced cell death. In astrocytes, binds to the cAMP response element (CRE) of the BiP/HSPA5 promoter and participate in its transcriptional activation (By similarity). Required for TGFB1 to activate genes involved in the assembly of collagen extracellular matrix (PubMed:25310401).',NULL,NULL,NULL,NULL,NULL),(484,'UniProt Function',NULL,578,NULL,'(Microbial infection) May play a role in limiting virus spread by inhibiting proliferation of virus-infected cells. Upon infection with diverse DNA and RNA viruses, inhibits cell-cycle progression by binding to promoters and activating transcription of genes encoding cell-cycle inhibitors, such as p21/CDKN1A (PubMed:21767813).',NULL,NULL,NULL,NULL,NULL),(485,'UniProt Function',NULL,579,NULL,'Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-67 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase (By similarity). Also acts as a stimulator of insulin secretion by interacting with sulfonylurea receptor (ABCC8), thereby preventing sulfonylurea from binding to its receptor and reducing K(ATP) channel currents.',NULL,NULL,NULL,NULL,NULL),(486,'UniProt Function',NULL,580,NULL,'Has a threefold preference for the hydrolysis of ATP over ADP.',NULL,NULL,NULL,NULL,NULL),(487,'UniProt Function',NULL,581,NULL,'Uridine diphosphatase (UDPase) that promotes protein N-glycosylation and ATP level regulation. UDP hydrolysis promotes protein N-glycosylation and folding in the endoplasmic reticulum, as well as elevated ATP consumption in the cytosol via an ATP hydrolysis cycle. Together with CMPK1 and AK1, constitutes an ATP hydrolysis cycle that converts ATP to AMP and results in a compensatory increase in aerobic glycolysis. The nucleotide hydrolyzing preference is GDP > IDP > UDP, but not any other nucleoside di-, mono- or triphosphates, nor thiamine pyrophosphate. Plays a key role in the AKT1-PTEN signaling pathway by promoting glycolysis in proliferating cells in response to phosphoinositide 3-kinase (PI3K) signaling.',NULL,NULL,NULL,NULL,NULL),(488,'UniProt Function',NULL,582,NULL,'Preferentially hydrolyzes nucleoside 5\'-triphosphates. The order of activity with respect to possible substrates is UTP > GTP > CTP.',NULL,NULL,NULL,NULL,NULL),(489,'UniProt Function',NULL,583,NULL,'Involved in mRNA export coupled transcription activation by association with both the TREX-2 and the SAGA complexes. The transcription regulatory histone acetylation (HAT) complex SAGA is a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery.',NULL,NULL,NULL,NULL,NULL),(490,'UniProt Function',NULL,584,NULL,'Hydrolyzes extracellular Ap3A into AMP and ADP, and Ap4A into AMP and ATP. Ap3A and Ap4A are diadenosine polyphosphates thought to induce proliferation of vascular smooth muscle cells. Acts as a procoagulant, mediating platelet aggregation at the site of nascent thrombus via release of ADP from Ap3A and activation of ADP receptors.',NULL,NULL,NULL,NULL,NULL),(491,'UniProt Function',NULL,585,NULL,'Serine protease inhibitor that plays an essential role in male reproduction and fertility. Modulates the hydrolysis of SEMG1 by KLK3/PSA (a serine protease), provides antimicrobial protection for spermatozoa in the ejaculate coagulum, and binds SEMG1 thereby inhibiting sperm motility.',NULL,NULL,NULL,NULL,NULL),(492,'UniProt Function',NULL,586,NULL,'Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2.',NULL,NULL,NULL,NULL,NULL),(493,'UniProt Function',NULL,587,NULL,'Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May have a role in transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly.',NULL,NULL,NULL,NULL,NULL),(494,'UniProt Function',NULL,588,NULL,'Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5.',NULL,NULL,NULL,NULL,NULL),(495,'UniProt Function',NULL,589,NULL,'Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Generally has an overlapping and redundant function with EPHB2. Like EPHB2, functions in axon guidance during development regulating for instance the neurons forming the corpus callosum and the anterior commissure, 2 major interhemispheric connections between the temporal lobes of the cerebral cortex. In addition to its role in axon guidance plays also an important redundant role with other ephrin-B receptors in development and maturation of dendritic spines and the formation of excitatory synapses. Controls other aspects of development through regulation of cell migration and positioning. This includes angiogenesis, palate development and thymic epithelium development for instance. Forward and reverse signaling through the EFNB2/EPHB3 complex also regulate migration and adhesion of cells that tubularize the urethra and septate the cloaca. Finally, plays an important role in intestinal epithelium differentiation segregating progenitor from differentiated cells in the crypt.',NULL,NULL,NULL,NULL,NULL),(496,'UniProt Function',NULL,590,NULL,'Thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act together with BSN. May recruit liprin-alpha proteins to the CAZ.',NULL,NULL,NULL,NULL,NULL),(497,'UniProt Function',NULL,591,NULL,'Required for the retention of luminal endoplasmic reticulum proteins. Determines the specificity of the luminal ER protein retention system. Also required for normal vesicular traffic through the Golgi. This receptor recognizes K-D-E-L (By similarity).',NULL,NULL,NULL,NULL,NULL),(498,'UniProt Function',NULL,592,NULL,'Iron-regulatory hormone that acts as an erythroid regulator after hemorrhage: produced by erythroblasts following blood loss and mediates suppression of hepcidin (HAMP) expression in the liver, thereby promoting increased iron absorption and mobilization from stores. Promotes lipid uptake into adipocytes and hepatocytes via transcriptional up-regulation of genes involved in fatty acid uptake.',NULL,NULL,NULL,NULL,NULL),(499,'UniProt Function',NULL,593,NULL,'RNA exonuclease that binds to the 3\'-end of histone mRNAs and degrades them, suggesting that it plays an essential role in histone mRNA decay after replication. A 2\' and 3\'-hydroxyl groups at the last nucleotide of the histone 3\'-end is required for efficient degradation of RNA substrates. Also able to degrade the 3\'-overhangs of short interfering RNAs (siRNAs) in vitro, suggesting a possible role as regulator of RNA interference (RNAi). Requires for binding the 5\'-ACCCA-3\' sequence present in stem-loop structure. Able to bind other mRNAs. Required for 5.8S rRNA 3\'-end processing. Also binds to 5.8s ribosomal RNA. Binds with high affinity to the stem-loop structure of replication-dependent histone pre-mRNAs.',NULL,NULL,NULL,NULL,NULL),(500,'UniProt Function',NULL,595,NULL,'Possible role in transport between endoplasmic reticulum and Golgi.',NULL,NULL,NULL,NULL,NULL),(501,'UniProt Function',NULL,603,NULL,'Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3\'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity).',NULL,NULL,NULL,NULL,NULL),(502,'UniProt Function',NULL,604,NULL,'Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. Binds cholesterol and may promote ER retention of the SCAP-SREBF complex (PubMed:24217618).',NULL,NULL,NULL,NULL,NULL),(503,'UniProt Function',NULL,605,NULL,'Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:19240031, PubMed:17502376). Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMed:24217618).',NULL,NULL,NULL,NULL,NULL),(504,'UniProt Function',NULL,606,NULL,'Possible role as a cell-adhesion or receptor molecule of erythroid cells.',NULL,NULL,NULL,NULL,NULL),(505,'UniProt Function',NULL,607,NULL,'Promotes neurite outgrowth and blocks myelin inhibition in neurons (By similarity). Receptor with constitutive G(s) signaling activity that stimulates cyclic AMP production.',NULL,NULL,NULL,NULL,NULL),(506,'UniProt Function',NULL,608,NULL,'Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress. Pro-apoptotic. Appears to play no role in the unfolded-protein response, unlike closely related proteins.',NULL,NULL,NULL,NULL,NULL),(507,'UniProt Function',NULL,609,NULL,'Receptor for endocannabinoid N-arachidonyl glycine (NAGly) (PubMed:16844083, PubMed:24762058, PubMed:27572937). However, conflicting results about the role of NAGly as an agonist are reported (PubMed:27018161). Can also be activated by plant-derived and synthetic cannabinoid agonists (PubMed:24762058). The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase (PubMed:16844083). May contribute to regulation of the immune system. Is required for normal homeostasis of CD8+ subsets of intraepithelial lymphocytes (IELs) (CD8alphaalpha and CD8alphabeta IELs)in small intstine by supporting preferential migration of CD8alphaalpha T-cells to intraepithelial compartment over lamina propria compartment, and by mediating their reconstitution into small intestine after bone marrow transplant (By similarity). Plays a role in hypotensive responses, mediating reduction in intraocular and blood pressure (By similarity). Mediates NAGly-induced process of reorganization of actin filaments and induction of acrosomal exocytosis (PubMed:27572937).',NULL,NULL,NULL,NULL,NULL),(508,'UniProt Function',NULL,610,NULL,'Receptor for the inflammation-associated leukocyte chemoattractant chemerin/RARRES2 suggesting a role for this receptor in the regulation of inflammation. Can act as a coreceptor for HIV-1.',NULL,NULL,NULL,NULL,NULL),(509,'UniProt Function',NULL,611,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(510,'UniProt Function',NULL,612,NULL,'Orphan receptor. Displays a significant level of constitutive activity. Its effect is mediated by G(s)-alpha protein that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP.',NULL,NULL,NULL,NULL,NULL),(511,'UniProt Function',NULL,615,NULL,'Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(512,'UniProt Function',NULL,616,NULL,'Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(513,'UniProt Function',NULL,618,NULL,'Can mediate aggregation most likely through a homophilic molecular interaction.',NULL,NULL,NULL,NULL,NULL),(514,'UniProt Function',NULL,619,NULL,'Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15958495, PubMed:18614053). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during S phase. Acts by mediating the acetylation of cohesin component SMC3 (PubMed:18614053).',NULL,NULL,NULL,NULL,NULL),(515,'UniProt Function',NULL,620,NULL,'Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15821733, PubMed:15958495). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3 (PubMed:21111234).',NULL,NULL,NULL,NULL,NULL),(516,'UniProt Function',NULL,621,NULL,'Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione. May constitute a glutathione peroxidase-like protective system against peroxide damage in sperm membrane lipids.',NULL,NULL,NULL,NULL,NULL),(517,'UniProt Function',NULL,622,NULL,'Plays a role in M1 macrophage polarization and is required for the proper regulation of gene expression during M1 versus M2 macrophage differentiation (By similarity). Might play a role in RELA/p65 and STAT1 phosphorylation and nuclear localization upon activation of macrophages (By similarity).',NULL,NULL,NULL,NULL,NULL),(518,'UniProt Function',NULL,623,NULL,'mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2 (PubMed:19285943). Regulates splicing and expression of genes involved in inner ear development, auditory hair cell differentiation, and cell fate specification in the cochlear epithelium (By similarity).',NULL,NULL,NULL,NULL,NULL),(519,'UniProt Function',NULL,624,NULL,'Serine hydrolase involved in the detoxification of formaldehyde.',NULL,NULL,NULL,NULL,NULL),(520,'UniProt Function',NULL,625,NULL,'Abundant protease in the cytosolic granules of cytotoxic T-cells and NK-cells which activates caspase-independent cell death with morphological features of apoptosis when delivered into the target cell through the immunological synapse. It cleaves after Lys or Arg. Cleaves APEX1 after \'Lys-31\' and destroys its oxidative repair activity. Cleaves the nucleosome assembly protein SET after \'Lys-189\', which disrupts its nucleosome assembly activity and allows the SET complex to translocate into the nucleus to nick and degrade the DNA.',NULL,NULL,NULL,NULL,NULL),(521,'UniProt Function',NULL,626,NULL,'This enzyme is necessary for target cell lysis in cell-mediated immune responses. It cleaves after Asp. Seems to be linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis execution. Cleaves caspase-3, -7, -9 and 10 to give rise to active enzymes mediating apoptosis.',NULL,NULL,NULL,NULL,NULL),(522,'UniProt Function',NULL,627,NULL,'May coordinately regulate cell cycle progression and transcription during spermatogenesis. Inhibits degradation of polyubiquitinated cyclin A and cyclin B1 and thereby arrests the cell cycle at early M phase. ESXR1-N acts as a transcriptional repressor. Binds to the sequence 5\'-TAATGTTATTA-3\' which is present within the first intron of the KRAS gene and inhibits its expression. ESXR1-C has the ability to inhibit cyclin turnover.',NULL,NULL,NULL,NULL,NULL),(523,'UniProt Function',NULL,629,NULL,'Plays a role as a mediator of E2F1-induced apoptosis in the absence of p53/TP53.',NULL,NULL,NULL,NULL,NULL),(524,'UniProt Function',NULL,630,NULL,'Interacts with SLP-76 to regulate NF-AT activation. Binds to tyrosine-phosphorylated shc.',NULL,NULL,NULL,NULL,NULL),(525,'UniProt Function',NULL,631,NULL,'Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway.',NULL,NULL,NULL,NULL,NULL),(526,'UniProt Function',NULL,632,NULL,'Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Binds calcium (via the C2 domains) and translocates to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. Helps tether the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane.',NULL,NULL,NULL,NULL,NULL),(527,'UniProt Function',NULL,633,NULL,'Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport. Plays a role in FGF signaling via its role in the rapid internalization of FGFR1 that has been activated by FGF1 binding; this occurs most likely via the AP-2 complex.',NULL,NULL,NULL,NULL,NULL),(528,'UniProt Function',NULL,634,NULL,'Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane.',NULL,NULL,NULL,NULL,NULL),(529,'UniProt Function',NULL,635,NULL,'Adapter protein which modulates coupling of a number of cell surface receptor kinases with specific signaling pathways. Binds to, and suppress signals from, activated receptors tyrosine kinases, including the insulin (INSR) and insulin-like growth factor (IGF1R) receptors. The inhibitory effect can be achieved by 2 mechanisms: interference with the signaling pathway and increased receptor degradation. Delays and reduces AKT1 phosphorylation in response to insulin stimulation. Blocks association between INSR and IRS1 and IRS2 and prevents insulin-stimulated IRS1 and IRS2 tyrosine phosphorylation. Recruits NEDD4 to IGF1R, leading to IGF1R ubiquitination, increased internalization and degradation by both the proteasomal and lysosomal pathways. May play a role in mediating insulin-stimulated ubiquitination of INSR, leading to proteasomal degradation. Negatively regulates Wnt signaling by interacting with LRP6 intracellular portion and interfering with the binding of AXIN1 to LRP6. Positive regulator of the KDR/VEGFR-2 signaling pathway. May inhibit NEDD4-mediated degradation of KDR/VEGFR-2.',NULL,NULL,NULL,NULL,NULL),(530,'UniProt Function',NULL,639,NULL,'Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:25416781, PubMed:15159392, PubMed:15975918). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:7912128). ETFB binds an AMP molecule that probably has a purely structural role (PubMed:8962055, PubMed:15159392, PubMed:15975918).',NULL,NULL,NULL,NULL,NULL),(531,'UniProt Function',NULL,640,NULL,'Acts as a regulator of the electron transfer flavoprotein by promoting the removal of flavin from the ETF holoenzyme (composed of ETFA and ETFB).',NULL,NULL,NULL,NULL,NULL),(532,'UniProt Function',NULL,641,NULL,'Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (By similarity). Enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB, but does not possess kinase activity itself (By similarity). Phosphorylation of AKT1/PKB thereby induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity). Essential for the integrity of the actin cytoskeleton and for cell migration (PubMed:16139227). Required for formation of actin stress fibers and lamellipodia (PubMed:15882442). May be involved in membrane sorting in the early endosome (PubMed:15882442). Plays a role in ciliogenesis and cilium morphology and positioning and this may partly be through regulation of the localization of scaffolding protein CROCC/Rootletin (PubMed:27623382).',NULL,NULL,NULL,NULL,NULL),(533,'UniProt Function',NULL,642,NULL,'Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5\'-CGGA[AT]-3\'.',NULL,NULL,NULL,NULL,NULL),(534,'UniProt Function',NULL,643,NULL,'Transcriptional repressor that contribute to growth arrest during terminal macrophage differentiation by repressing target genes involved in Ras-dependent proliferation. Represses MMP1 promoter activity.',NULL,NULL,NULL,NULL,NULL),(535,'UniProt Function',NULL,644,NULL,'Transcription factor activating transcription. Binds specifically the DNA GGAA/T core motif (Ets-binding site or EBS) in gene promoters and stimulates transcription.',NULL,NULL,NULL,NULL,NULL),(536,'UniProt Function',NULL,645,NULL,'Plays a role in cortical progenitor cell proliferation and differentiation. Promotes dendritic spine development of post-migratory cortical projection neurons by modulating the beta-catenin signaling pathway.',NULL,NULL,NULL,NULL,NULL),(537,'UniProt Function',NULL,646,NULL,'Binds heparin.',NULL,NULL,NULL,NULL,NULL),(538,'UniProt Function',NULL,647,NULL,'Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development.',NULL,NULL,NULL,NULL,NULL),(539,'UniProt Function',NULL,649,NULL,'May complex with itself or/and other proteins within the membrane, to function as part of a cell-surface receptor.',NULL,NULL,NULL,NULL,NULL),(540,'UniProt Function',NULL,650,NULL,'Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. EVL enhances actin nucleation and polymerization.',NULL,NULL,NULL,NULL,NULL),(541,'UniProt Function',NULL,652,NULL,'May play a role in the specification of neuronal cell types.',NULL,NULL,NULL,NULL,NULL),(542,'UniProt Function',NULL,654,NULL,'Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.',NULL,NULL,NULL,NULL,NULL),(543,'UniProt Function',NULL,655,NULL,'As part of the exocyst, may play a role in regulated exocytosis of insulin granules.',NULL,NULL,NULL,NULL,NULL),(544,'UniProt Function',NULL,656,NULL,'Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through the exchange of bound GDP for GTP. May also activates other GTPases such as RRAS, RRAS2, NRAS, KRAS but not HRAS. Functions in aggregation of platelets and adhesion of T-lymphocytes and neutrophils probably through inside-out integrin activation. May function in the muscarinic acetylcholine receptor M1/CHRM1 signaling pathway.',NULL,NULL,NULL,NULL,NULL),(545,'UniProt Function',NULL,658,NULL,'Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing. Has CTD kinase activity by hyperphosphorylating the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit RPB1, thereby acting as a key regulator of transcription elongation. Required for RNA splicing, probably by phosphorylating SRSF1/SF2. Required during hematopoiesis. In case of infection by HIV-1 virus, interacts with HIV-1 Tat protein acetylated at \'Lys-50\' and \'Lys-51\', thereby increasing HIV-1 mRNA splicing and promoting the production of the doubly spliced HIV-1 protein Nef.',NULL,NULL,NULL,NULL,NULL),(546,'UniProt Function',NULL,662,NULL,'Plays a role in transcriptional regulation (PubMed:24623306). Involved in activated KRAS-mediated transcriptional activation of PRKD1 in colorectal cancer (CRC) cells (PubMed:24623306). Binds to the PRKD1 promoter in colorectal cancer (CRC) cells (PubMed:24623306). Could play a role in the terminal differentiation of the intestine. Binds preferentially to methylated DNA (PubMed:28473536).',NULL,NULL,NULL,NULL,NULL),(547,'UniProt Function',NULL,663,NULL,'Serine/threonine kinase involved in cell cycle control and in RNA polymerase II-mediated RNA transcription. Cyclin-dependent kinases (CDKs) are activated by the binding to a cyclin and mediate the progression through the cell cycle. Each different complex controls a specific transition between 2 subsequent phases in the cell cycle. Required for both activation and complex formation of CDK1/cyclin-B during G2-M transition, and for activation of CDK2/cyclins during G1-S transition (but not complex formation). CDK7 is the catalytic subunit of the CDK-activating kinase (CAK) complex. Phosphorylates SPT5/SUPT5H, SF1/NR5A1, POLR2A, p53/TP53, CDK1, CDK2, CDK4, CDK6 and CDK11B/CDK11. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation, thus regulating cell cycle progression. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Phosphorylation of POLR2A in complex with DNA promotes transcription initiation by triggering dissociation from DNA. Its expression and activity are constant throughout the cell cycle. Upon DNA damage, triggers p53/TP53 activation by phosphorylation, but is inactivated in turn by p53/TP53; this feedback loop may lead to an arrest of the cell cycle and of the transcription, helping in cell recovery, or to apoptosis. Required for DNA-bound peptides-mediated transcription and cellular growth inhibition.',NULL,NULL,NULL,NULL,NULL),(548,'UniProt Function',NULL,664,NULL,'Cell surface glycoprotein that plays a role in cell adhesion in a calcium-independent manner (PubMed:8776764, PubMed:2022629, PubMed:11590190). Mediates heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM6 (PubMed:8776764, PubMed:2022629, PubMed:11590190). Heterophilic interaction with CEACAM8 occurs in activated neutrophils (PubMed:8776764).',NULL,NULL,NULL,NULL,NULL),(549,'UniProt Function',NULL,665,NULL,'RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA.',NULL,NULL,NULL,NULL,NULL),(550,'UniProt Function',NULL,670,NULL,'May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm.',NULL,NULL,NULL,NULL,NULL),(551,'UniProt Function',NULL,671,NULL,'May be involved in induction of apoptosis in CD4(+) T-cells, but not CD8(+) T-cells or hepatocytes.',NULL,NULL,NULL,NULL,NULL),(552,'UniProt Function',NULL,672,NULL,'As part of the central apparatus of the cilium axoneme may play a role in cilium movement.',NULL,NULL,NULL,NULL,NULL),(553,'UniProt Function',NULL,676,NULL,'Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system.',NULL,NULL,NULL,NULL,NULL),(554,'UniProt Function',NULL,677,NULL,'Nucleotidyltransferase that catalyzes the formation of cyclic GMP-AMP (cGAMP) from ATP and GTP (PubMed:23258413, PubMed:23707061, PubMed:23722159, PubMed:24077100, PubMed:25131990). Catalysis involves both the formation of a 2\',5\' phosphodiester linkage at the GpA step and the formation of a 3\',5\' phosphodiester linkage at the ApG step, producing c[G(2\',5\')pA(3\',5\')p] (PubMed:28363908, PubMed:28214358). Acts as a key cytosolic DNA sensor, the presence of double-stranded DNA (dsDNA) in the cytoplasm being a danger signal that triggers the immune responses (PubMed:28363908). Binds cytosolic DNA directly, leading to activation and synthesis of cGAMP, a second messenger that binds to and activates TMEM173/STING, thereby triggering type-I interferon production (PubMed:28363908, PubMed:28314590). Has antiviral activity by sensing the presence of dsDNA from DNA viruses in the cytoplasm (PubMed:28363908). Also acts as an innate immune sensor of infection by retroviruses, such as HIV-1, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:23929945). Detection of retroviral reverse-transcribed DNA in the cytosol may be indirect and be mediated via interaction with PQBP1, which directly binds reverse-transcribed retroviral DNA (PubMed:26046437). Also detects the presence of DNA from bacteria, such as M.tuberculosis (PubMed:26048138). cGAMP can be transferred from producing cells to neighboring cells through gap junctions, leading to promote TMEM173/STING activation and convey immune response to connecting cells (PubMed:24077100). cGAMP can also be transferred between cells by virtue of packaging within viral particles contributing to IFN-induction in newly infected cells in a cGAS-independent but TMEM173/STING-dependent manner (PubMed:26229115). In addition to antiviral activity, also involved in the response to cellular stresses, such as senescence, DNA damage or genome instability (PubMed:28738408, PubMed:28759889). Acts as a regulator of cellular senescence by binding to cytosolic chromatin fragments that are present in senescent cells, leading to trigger type-I interferon production via TMEM173/STING and promote cellular senescence (By similarity). Also involved in the inflammatory response to genome instability and double-stranded DNA breaks: acts by localizing to micronuclei arising from genome instability (PubMed:28738408, PubMed:28759889). Micronuclei, which as frequently found in cancer cells, consist of chromatin surrounded by its own nuclear membrane: following breakdown of the micronuclear envelope, a process associated with chromothripsis, CGAS binds self-DNA exposed to the cytosol, leading to cGAMP synthesis and subsequent activation of TMEM173/STING and type-I interferon production (PubMed:28738408, PubMed:28759889).',NULL,NULL,NULL,NULL,NULL),(555,'UniProt Function',NULL,678,NULL,'Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810).',NULL,NULL,NULL,NULL,NULL),(556,'UniProt Function',NULL,680,NULL,'DNA-dependent ATPase that plays a role in chromatin remodeling. Regulates transcription by disrupting nucleosomes in a largely non-sliding manner which strongly increases the accessibility of chromatin (PubMed:28533432). Activates transcription of specific genes in response to oxidative stress through interaction with NFE2L2.',NULL,NULL,NULL,NULL,NULL),(557,'UniProt Function',NULL,680,NULL,'(Microbial infection) Acts as a transcriptional repressor of different viruses including influenza virus or papillomavirus. During influenza virus infection, the viral polymerase complex localizes CHD6 to inactive chromatin where it gets degraded in a proteasome independent-manner.',NULL,NULL,NULL,NULL,NULL),(558,'UniProt Function',NULL,681,NULL,'Macromolecular component of the subendothelium. Major component of the Descemet\'s membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(559,'UniProt Function',NULL,682,NULL,'Non-enzymatic component of C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens.',NULL,NULL,NULL,NULL,NULL),(560,'UniProt Function',NULL,682,NULL,'Derived from proteolytic degradation of complement C4, C4a anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.',NULL,NULL,NULL,NULL,NULL),(561,'UniProt Function',NULL,683,NULL,'C8 is a constituent of the membrane attack complex. C8 binds to the C5B-7 complex, forming the C5B-8 complex. C5-B8 binds C9 and acts as a catalyst in the polymerization of C9. The gamma subunit seems to be able to bind retinol.',NULL,NULL,NULL,NULL,NULL),(562,'UniProt Function',NULL,684,NULL,'Structural component of hyaline cartilage and vitreous of the eye.',NULL,NULL,NULL,NULL,NULL),(563,'UniProt Function',NULL,685,NULL,'Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a \'chicken-wire\' meshwork together with laminins, proteoglycans and entactin/nidogen.',NULL,NULL,NULL,NULL,NULL),(564,'UniProt Function',NULL,685,NULL,'Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. Inhibits expression of hypoxia-inducible factor 1alpha and ERK1/2 and p38 MAPK activation. Ligand for alpha1/beta1 integrin.',NULL,NULL,NULL,NULL,NULL),(565,'UniProt Function',NULL,686,NULL,'Collagen VI acts as a cell-binding protein.',NULL,NULL,NULL,NULL,NULL),(566,'UniProt Function',NULL,687,NULL,'Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly.',NULL,NULL,NULL,NULL,NULL),(567,'UniProt Function',NULL,688,NULL,'Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.',NULL,NULL,NULL,NULL,NULL),(568,'UniProt Function',NULL,689,NULL,'As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Required for optimal Pol-delta activity. Stabilizes the Pol-delta complex and plays a major role in Pol-delta stimulation by PCNA (PubMed:10219083, PubMed:10852724, PubMed:11595739, PubMed:16510448, PubMed:24035200). Pol-delta3 and Pol-delta4 are characterized by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may also be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5\'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation. In this context, POLD3, along with PCNA and RFC1-replication factor C complex, is required to recruit POLD1, the catalytic subunit of the polymerase delta complex, to DNA damage sites (PubMed:20227374). Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites performed by Pol-delta4, independently of DNA polymerase zeta (REV3L) or eta (POLH). Facilitates abasic site bypass by DNA polymerase delta by promoting extension from the nucleotide inserted opposite the lesion (PubMed:19074196, PubMed:25628356, PubMed:27185888). Also involved in TLS, as a component of the POLZ complex. Along with POLD2, dramatically increases the efficiency and processivity of DNA synthesis of the minimal DNA polymerase zeta complex, consisting of only REV3L and REV7 (PubMed:24449906).',NULL,NULL,NULL,NULL,NULL),(569,'UniProt Function',NULL,690,NULL,'As a component of the tetrameric DNA polymerase delta complex (Pol-delta4), plays a role in high fidelity genome replication and repair. Within this complex, increases the rate of DNA synthesis and decreases fidelity by regulating POLD1 polymerase and proofreading 3\' to 5\' exonuclease activity (PubMed:16510448, PubMed:19074196, PubMed:20334433). Pol-delta4 participates in Okazaki fragment processing, through both the short flap pathway, as well as a nick translation system (PubMed:24035200). Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR), a mechanism that may induce segmental genomic duplications of up to 200 kb (PubMed:24310611). Involved in Pol-delta4 translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites (PubMed:19074196). Its degradation in response to DNA damage is required for the inhibition of fork progression and cell survival (PubMed:24022480).',NULL,NULL,NULL,NULL,NULL),(570,'UniProt Function',NULL,691,NULL,'Participates in DNA repair and in chromosomal DNA replication.',NULL,NULL,NULL,NULL,NULL),(571,'UniProt Function',NULL,692,NULL,'Participates in DNA repair and in chromosomal DNA replication.',NULL,NULL,NULL,NULL,NULL),(572,'UniProt Function',NULL,693,NULL,'Forms a complex with DNA polymerase epsilon subunit CHRAC1 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome-remodeling activity of ISWI/SNF2H and ACF1.',NULL,NULL,NULL,NULL,NULL),(573,'UniProt Function',NULL,694,NULL,'Plays an important role in the degradation of some oligopeptides.',NULL,NULL,NULL,NULL,NULL),(574,'UniProt Function',NULL,695,NULL,'Cleaves and degrades bioactive peptides, including angiotensin, Leu-enkephalin and Met-enkephalin (PubMed:3233187, PubMed:1515063). Also cleaves Arg-Arg-beta-naphthylamide (in vitro) (PubMed:9425109, PubMed:3233187, PubMed:11209758).',NULL,NULL,NULL,NULL,NULL),(575,'UniProt Function',NULL,696,NULL,'Cell surface glycoprotein receptor involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Acts as a positive regulator of T-cell coactivation, by binding at least ADA, CAV1, IGF2R, and PTPRC. Its binding to CAV1 and CARD11 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Its interaction with ADA also regulates lymphocyte-epithelial cell adhesion. In association with FAP is involved in the pericellular proteolysis of the extracellular matrix (ECM), the migration and invasion of endothelial cells into the ECM. May be involved in the promotion of lymphatic endothelial cells adhesion, migration and tube formation. When overexpressed, enhanced cell proliferation, a process inhibited by GPC3. Acts also as a serine exopeptidase with a dipeptidyl peptidase activity that regulates various physiological processes by cleaving peptides in the circulation, including many chemokines, mitogenic growth factors, neuropeptides and peptide hormones. Removes N-terminal dipeptides sequentially from polypeptides having unsubstituted N-termini provided that the penultimate residue is proline.',NULL,NULL,NULL,NULL,NULL),(576,'UniProt Function',NULL,697,NULL,'Binds to F-actin and exhibits pH-sensitive F-actin depolymerizing activity. Regulates actin cytoskeleton dynamics. Important for normal progress through mitosis and normal cytokinesis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required for the up-regulation of atypical chemokine receptor ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation (PubMed:11812157, PubMed:15580268, PubMed:21834987, PubMed:23633677). Required for neural tube morphogenesis and neural crest cell migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(577,'UniProt Function',NULL,698,NULL,'Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3 (PubMed:19752190). It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity).',NULL,NULL,NULL,NULL,NULL),(578,'UniProt Function',NULL,699,NULL,'Dipeptidyl peptidase that cleaves off N-terminal dipeptides from proteins having a Pro or Ala residue at position 2. May play a role in T-cell activation and immune function.',NULL,NULL,NULL,NULL,NULL),(579,'UniProt Function',NULL,700,NULL,'Dipeptidyl peptidase that cleaves off N-terminal dipeptides from proteins having a Pro or Ala residue at position 2.',NULL,NULL,NULL,NULL,NULL),(580,'UniProt Function',NULL,701,NULL,'May be involved in the maintenance of active epigenetic status of target genes. May inhibit differentiation of embryonic cells into a primitive ectoderm lineage.',NULL,NULL,NULL,NULL,NULL),(581,'UniProt Function',NULL,702,NULL,'Involved in the maintenance of embryonic stem (ES) cell pluripotency. Dispensable for self-renewal of pluripotent ES cells and establishment of germ cells. Associates with specific target mRNAs (By similarity).',NULL,NULL,NULL,NULL,NULL),(582,'UniProt Function',NULL,703,NULL,'May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development.',NULL,NULL,NULL,NULL,NULL),(583,'UniProt Function',NULL,704,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Involved in JUN ubiquitination and degradation. Directly involved in p53 (TP53) ubiquitination and degradation, thereby abolishing p53-dependent transcription and apoptosis. Ubiquitinates p53 independently of MDM2 or RCHY1. Probably mediates E3 ubiquitin ligase activity by functioning as the essential RING domain subunit of larger E3 complexes. In contrast, it does not constitute the catalytic RING subunit in the DCX DET1-COP1 complex that negatively regulates JUN, the ubiquitin ligase activity being mediated by RBX1. Involved in 14-3-3 protein sigma/SFN ubiquitination and proteasomal degradation, leading to AKT activation and promotion of cell survival. Ubiquitinates MTA1 leading to its proteasomal degradation. Upon binding to TRIB1, ubiquitinates CEBPA, which lacks a canonical COP1-binding motif (Probable).',NULL,NULL,NULL,NULL,NULL),(584,'UniProt Function',NULL,705,NULL,'Dual specificity phosphatase that dephosphorylates MAPK8/JNK and MAPK14/p38, but not MAPK1/ERK2, in vitro. Exhibits intrinsic phosphatase activity towards both phospho-seryl/threonyl and -tyrosyl residues, with similar specific activities in vitro.',NULL,NULL,NULL,NULL,NULL),(585,'UniProt Function',NULL,706,NULL,'Essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:23125284). Acts as a chaperone in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation, stabilizing the newly synthesized protein and presenting it to metallochaperones SCO1/2 which in turn facilitates the incorporation of the mature MT-CO2/COX2 into the assembling CIV holoenzyme (PubMed:24403053).',NULL,NULL,NULL,NULL,NULL),(586,'UniProt Function',NULL,708,NULL,'May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm.',NULL,NULL,NULL,NULL,NULL),(587,'UniProt Function',NULL,711,NULL,'Might support glycosylation reactions in the Golgi apparatus and, when released from cells, might catalyze the hydrolysis of extracellular nucleotides. Hydrolyzes preferentially nucleoside 5\'-diphosphates, nucleoside 5\'-triphosphates are hydrolyzed only to a minor extent, there is no hydrolysis of nucleoside 5\'-monophosphates. The order of activity with different substrates is GDP > IDP >> UDP = CDP >> ADP (By similarity).',NULL,NULL,NULL,NULL,NULL),(588,'UniProt Function',NULL,712,NULL,'Functions as histone acetyltransferase and regulates transcription via chromatin remodeling (PubMed:23415232, PubMed:23934153, PubMed:8945521). Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation (PubMed:23415232, PubMed:23934153, PubMed:8945521). Mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. Mediates acetylation of histone H3 at \'Lys-122\' (H3K122ac), a modification that localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability. Mediates acetylation of histone H3 at \'Lys-27\' (H3K27ac) (PubMed:23911289). Also functions as acetyltransferase for non-histone targets, such as ALX1, HDAC1, PRMT1 or SIRT2 (PubMed:12929931, PubMed:16762839, PubMed:18722353). Acetylates \'Lys-131\' of ALX1 and acts as its coactivator (PubMed:12929931). Acetylates SIRT2 and is proposed to indirectly increase the transcriptional activity of TP53 through acetylation and subsequent attenuation of SIRT2 deacetylase function (PubMed:18722353). Acetylates HDAC1 leading to its inactivation and modulation of transcription (PubMed:16762839). Acts as a TFAP2A-mediated transcriptional coactivator in presence of CITED2 (PubMed:12586840). Plays a role as a coactivator of NEUROD1-dependent transcription of the secretin and p21 genes and controls terminal differentiation of cells in the intestinal epithelium. Promotes cardiac myocyte enlargement. Can also mediate transcriptional repression. Acetylates FOXO1 and enhances its transcriptional activity (PubMed:15890677). Acetylates BCL6 wich disrupts its ability to recruit histone deacetylases and hinders its transcriptional repressor activity (PubMed:12402037). Participates in CLOCK or NPAS2-regulated rhythmic gene transcription; exhibits a circadian association with CLOCK or NPAS2, correlating with increase in PER1/2 mRNA and histone H3 acetylation on the PER1/2 promoter (PubMed:14645221). Acetylates MTA1 at \'Lys-626\' which is essential for its transcriptional coactivator activity (PubMed:16617102). Acetylates XBP1 isoform 2; acetylation increases protein stability of XBP1 isoform 2 and enhances its transcriptional activity (PubMed:20955178). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates MEF2D (PubMed:21030595). Acetylates and stabilizes ZBTB7B protein by antagonizing ubiquitin conjugation and degragation, this mechanism may be involved in CD4/CD8 lineage differentiation (PubMed:20810990). In addition to protein acetyltransferase, can use different acyl-CoA substrates, such as (2E)-butenoyl-CoA (crotonyl-CoA), butanoyl-CoA (butyryl-CoA) or propanoyl-CoA (propionyl-CoA), and is able to mediate protein crotonylation, butyrylation or propionylation, respectively (PubMed:25818647, PubMed:17267393). Acts as a histone crotonyltransferase; crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25818647). Histone crotonyltransferase activity is dependent on the concentration of (2E)-butenoyl-CoA (crotonyl-CoA) substrate and such activity is weak when (E)-but-2-enoyl-CoA (crotonyl-CoA) concentration is low (PubMed:25818647). Also acts as a histone butyryltransferase; butyrylation marks active promoters (PubMed:17267393). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493).',NULL,NULL,NULL,NULL,NULL),(589,'UniProt Function',NULL,712,NULL,'(Microbial infection) In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat\'s transactivating activity and may help inducing chromatin remodeling of proviral genes. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein.',NULL,NULL,NULL,NULL,NULL),(590,'UniProt Function',NULL,714,NULL,'Plays an important role in preventing glycogen hyperphosphorylation and the formation of insoluble aggregates, via its activity as glycogen phosphatase, and by promoting the ubiquitination of proteins involved in glycogen metabolism via its interaction with the E3 ubiquitin ligase NHLRC1/malin. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates (PubMed:16901901, PubMed:23922729, PubMed:26231210, PubMed:25538239, PubMed:25544560). Dephosphorylates phosphotyrosine and synthetic substrates, such as para-nitrophenylphosphate (pNPP), and has low activity with phosphoserine and phosphothreonine substrates (in vitro) (PubMed:11001928, PubMed:11220751, PubMed:11739371, PubMed:14532330, PubMed:16971387, PubMed:18617530, PubMed:22036712, PubMed:23922729, PubMed:14722920). Has been shown to dephosphorylate MAPT (By similarity). Forms a complex with NHLRC1/malin and HSP70, which suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin (PubMed:23922729). Also promotes proteasome-independent protein degradation through the macroautophagy pathway (PubMed:20453062).',NULL,NULL,NULL,NULL,NULL),(591,'UniProt Function',NULL,714,NULL,'Isoform 2: does not bind to glycogen (PubMed:18617530). Lacks phosphatase activity and might function as a dominant-negative regulator for the phosphatase activity of isoform 1 and isoform 7 (PubMed:18617530, PubMed:22036712).',NULL,NULL,NULL,NULL,NULL),(592,'UniProt Function',NULL,714,NULL,'Isoform 7: has phosphatase activity (in vitro).',NULL,NULL,NULL,NULL,NULL),(593,'UniProt Function',NULL,715,NULL,'Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo.',NULL,NULL,NULL,NULL,NULL),(594,'UniProt Function',NULL,717,NULL,'Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Activated by the ligand ephrin-A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation of cells. Regulates cell adhesion and differentiation through DSG1/desmoglein-1 and inhibition of the ERK1/ERK2 (MAPK3/MAPK1, respectively) signaling pathway. May also participate in UV radiation-induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration. During development, may function in distinctive aspects of pattern formation and subsequently in development of several fetal tissues. Involved for instance in angiogenesis, in early hindbrain development and epithelial proliferation and branching morphogenesis during mammary gland development. Engaged by the ligand ephrin-A5/EFNA5 may regulate lens fiber cells shape and interactions and be important for lens transparency development and maintenance. With ephrin-A2/EFNA2 may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis.',NULL,NULL,NULL,NULL,NULL),(595,'UniProt Function',NULL,717,NULL,'(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins.',NULL,NULL,NULL,NULL,NULL),(596,'UniProt Function',NULL,718,NULL,'May be involved in early DNA damage response.',NULL,NULL,NULL,NULL,NULL),(597,'UniProt Function',NULL,719,NULL,'Small GTPase required for proper localization of RNA polymerase II and III (RNAPII and RNAPIII). May act at an RNAP assembly step prior to nuclear import.',NULL,NULL,NULL,NULL,NULL),(598,'UniProt Function',NULL,720,NULL,'DNA helicase that acts as an essential component of the spindle assembly checkpoint. Contributes to the mitotic checkpoint by recruiting MAD2 to kinetochores and monitoring tension on centromeric chromatin (PubMed:17218258). Acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase (PubMed:17218258, PubMed:23973328). Functions as ATP-dependent DNA translocase (PubMed:23973328, PubMed:28977671). Can promote Holliday junction branch migration (in vitro) (PubMed:23973328).',NULL,NULL,NULL,NULL,NULL),(599,'UniProt Function',NULL,721,NULL,'Isoform 1: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5\'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4.',NULL,NULL,NULL,NULL,NULL),(600,'UniProt Function',NULL,722,NULL,'ATP-dependent 5\'-3\' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers.',NULL,NULL,NULL,NULL,NULL),(601,'UniProt Function',NULL,723,NULL,'Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3\'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too.',NULL,NULL,NULL,NULL,NULL),(602,'UniProt Function',NULL,724,NULL,'Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II-blocking lesions.',NULL,NULL,NULL,NULL,NULL),(603,'UniProt Function',NULL,725,NULL,'Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes.',NULL,NULL,NULL,NULL,NULL),(604,'UniProt Function',NULL,726,NULL,'Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(605,'UniProt Function',NULL,727,NULL,'Catalyzes the first oxygenation step in sterol biosynthesis and is suggested to be one of the rate-limiting enzymes in this pathway.',NULL,NULL,NULL,NULL,NULL),(606,'UniProt Function',NULL,728,NULL,'Involved in the conversion of lanosterol to cholesterol.',NULL,NULL,NULL,NULL,NULL),(607,'UniProt Function',NULL,730,NULL,'Possible role in transport between endoplasmic reticulum and Golgi.',NULL,NULL,NULL,NULL,NULL),(608,'UniProt Function',NULL,731,NULL,'Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. Through the production of lanosterol may regulate lens protein aggregation and increase transparency.',NULL,NULL,NULL,NULL,NULL),(609,'UniProt Function',NULL,732,NULL,'Possible role in transport between endoplasmic reticulum and Golgi.',NULL,NULL,NULL,NULL,NULL),(610,'UniProt Function',NULL,735,NULL,'Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR) (PubMed:11779464, PubMed:11175748, PubMed:12637535, PubMed:9637683, PubMed:21317875). In unstressed cells, the endoplasmic reticulum luminal domain is maintained in its inactive monomeric state by binding to the endoplasmic reticulum chaperone HSPA5/BiP (PubMed:21317875). Accumulation of misfolded protein in the endoplasmic reticulum causes release of HSPA5/BiP, allowing the luminal domain to homodimerize, promoting autophosphorylation of the kinase domain and subsequent activation of the endoribonuclease activity (PubMed:21317875). The endoribonuclease activity is specific for XBP1 mRNA and excises 26 nucleotides from XBP1 mRNA (PubMed:11779464, PubMed:24508390, PubMed:21317875). The resulting spliced transcript of XBP1 encodes a transcriptional activator protein that up-regulates expression of UPR target genes (PubMed:11779464, PubMed:24508390, PubMed:21317875). Acts as an upstream signal for ER stress-induced GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane by modulating the expression and localization of SEC16A (PubMed:21884936, PubMed:28067262).',NULL,NULL,NULL,NULL,NULL),(611,'UniProt Function',NULL,736,NULL,'Probable chemokine receptor. Alternative coreceptor with CD4 for HIV-1 infection.',NULL,NULL,NULL,NULL,NULL),(612,'UniProt Function',NULL,737,NULL,'Dual specificity receptor for uracil nucleotides and cysteinyl leukotrienes (CysLTs). Signals through G(i) and inhibition of adenylyl cyclase. May mediate brain damage by nucleotides and CysLTs following ischemia.',NULL,NULL,NULL,NULL,NULL),(613,'UniProt Function',NULL,738,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(614,'UniProt Function',NULL,739,NULL,'Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. Required for the proper folding of immunoglobulins. Involved in the release of the unfolded cholera toxin from reduced P4HB/PDI in case of infection by V.cholerae, thereby playing a role in retrotranslocation of the toxin. Plays an important role in ER stress-induced, CHOP-dependent apoptosis by activating the inositol 1,4,5-trisphosphate receptor IP3R1.',NULL,NULL,NULL,NULL,NULL),(615,'UniProt Function',NULL,740,NULL,'Orphan G-protein coupled receptor. Seems to act through a G(i)/G(o) mediated pathway (PubMed:18539757). May be involved in ciliogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(616,'UniProt Function',NULL,741,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(617,'UniProt Function',NULL,743,NULL,'High-affinity receptor for 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid (12-S-HETE). 12-(S)-HETE is an arachidonic acid metabolite secreted by platelets and tumor cells, and known to induce endothelial cells retraction allowing invasive cell access to the subendothelial matrix, which is a critical step for extravasation or metastasis. Ligand-binding lead to activation of ERK1/2 (MAPK3/MAPK1), MEK, and NF-kappa-B.',NULL,NULL,NULL,NULL,NULL),(618,'UniProt Function',NULL,744,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(619,'UniProt Function',NULL,745,NULL,'Orphan receptor; could be a chemoattractant receptor.',NULL,NULL,NULL,NULL,NULL),(620,'UniProt Function',NULL,746,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(621,'UniProt Function',NULL,747,NULL,'Zn(2+) acts as an agonist. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Its effect is mediated mainly through G(q)-alpha and G(12)/G(13) proteins. Involved in regulation of body weight, gastrointestinal mobility, hormone secretion and cell death (By similarity).',NULL,NULL,NULL,NULL,NULL),(622,'UniProt Function',NULL,748,NULL,'Probable G protein-coupled receptor that may be activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that may play a role in the regulation of whole-body energy homeostasis and/or in intestinal immunity.',NULL,NULL,NULL,NULL,NULL),(623,'UniProt Function',NULL,749,NULL,'Orphan receptor. May play a role in brain function.',NULL,NULL,NULL,NULL,NULL),(624,'UniProt Function',NULL,750,NULL,'Guanine nucleotide dissociation inhibitor (GDI) which functions as a receptor-independent activator of heterotrimeric G-protein signaling. Keeps G(i/o) alpha subunit in its GDP-bound form thus uncoupling heterotrimeric G-proteins signaling from G protein-coupled receptors. Controls spindle orientation and asymmetric cell fate of cerebral cortical progenitors. May also be involved in macroautophagy in intestinal cells. May play a role in drug addiction.',NULL,NULL,NULL,NULL,NULL),(625,'UniProt Function',NULL,751,NULL,'Plays an important role in mitotic spindle pole organization via its interaction with NUMA1 (PubMed:11781568, PubMed:15632202, PubMed:21816348). Required for cortical dynein-dynactin complex recruitment during metaphase (PubMed:22327364). Plays a role in metaphase spindle orientation (PubMed:22327364). Plays also an important role in asymmetric cell divisions (PubMed:21816348). Has guanine nucleotide dissociation inhibitor (GDI) activity towards G(i) alpha proteins, such as GNAI1 and GNAI3, and thereby regulates their activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(626,'UniProt Function',NULL,753,NULL,'Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF.',NULL,NULL,NULL,NULL,NULL),(627,'UniProt Function',NULL,754,NULL,'Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5\'-TNAAGGTCA-3\'. Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter. Requires dimerization and the coactivator, PGC-1A, for full activity. The ERRalpha/PGC1alpha complex is a regulator of energy metabolism. Induces the expression of PERM1 in the skeletal muscle.',NULL,NULL,NULL,NULL,NULL),(628,'UniProt Function',NULL,755,NULL,'Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development (PubMed:28397860). Is a negative regulator of immune antiviral response, acting via down-regulation of RIG-I-like receptors signaling and inhibition of type I interferon production. The control mechanism involves interaction with mitochondrial MAVS and inhibition of MAVS assembly with downstream proteins implicated in antiviral response, such as TBK1 and TRAF6 (PubMed:28414768).',NULL,NULL,NULL,NULL,NULL),(629,'UniProt Function',NULL,756,NULL,'Isoform 3: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5\'TCAAGGTCA-3\' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity (PubMed:17920186, PubMed:19755138). Plays a role, in a LIF-independent manner, in maintainance of self-renewal and pluripotency of embryonic and trophoblast stem cells through different signaling pathways including FGF signaling pathway and Wnt signaling pathways. Upon FGF signaling pathway activation, interacts with KDM1A by directly binding to enhancer site of ELF5 and EOMES and activating their transcription leading to self-renewal of trophoblast stem cells. Also regulates expression of multiple rod-specific genes and is required for survival of this cell type (By similarity). Plays a role as transcription factor activator of GATA6, NR0B1, POU5F1 and PERM1 (PubMed:23836911). Plays a role as transcription factor repressor of NFE2L2 transcriptional activity and ESR1 transcriptional activity (PubMed:17920186, PubMed:19755138). During mitosis remains bound to a subset of interphase target genes, including pluripotency regulators, through the canonical ESRRB recognition (ERRE) sequence, leading to their transcriptional activation in early G1 phase. Can coassemble on structured DNA elements with other transcription factors like SOX2, POU5F1, KDM1A and NCOA3 to trigger ESRRB-dependent gene activation. This mechanism, in the case of SOX2 corecruitment prevents the embryonic stem cells (ESCs) to epiblast stem cells (EpiSC) transition through positive regulation of NR0B1 that inhibits the EpiSC transcriptional program. Also plays a role inner ear development by controlling expression of ion channels and transporters and in early placentation (By similarity).',NULL,NULL,NULL,NULL,NULL),(630,'UniProt Function',NULL,756,NULL,'Isoform 1: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5\'TCAAGGTCA-3\' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity. Positively regulates ESR1 transcriptional activity upon E2 stimulation.',NULL,NULL,NULL,NULL,NULL),(631,'UniProt Function',NULL,757,NULL,'Orphan receptor that acts as transcription activator in the absence of bound ligand. Binds specifically to an estrogen response element and activates reporter genes controlled by estrogen response elements (By similarity). Induces the expression of PERM1 in the skeletal muscle.',NULL,NULL,NULL,NULL,NULL),(632,'UniProt Function',NULL,758,NULL,'Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma-chain, the Src kinases (likely FYN or LYN) and SYK, the adapter protein LAT and leads to the activation of PLCG2.',NULL,NULL,NULL,NULL,NULL),(633,'UniProt Function',NULL,759,NULL,'Negative regulator of EGFR signaling in skin morphogenesis. Acts as a negative regulator for several EGFR family members, including ERBB2, ERBB3 and ERBB4. Inhibits EGFR catalytic activity by interfering with its dimerization. Inhibits autophosphorylation of EGFR, ERBB2 and ERBB4. Important for normal keratinocyte proliferation and differentiation. Plays a role in modulating the response to steroid hormones in the uterus. Required for normal response to progesterone in the uterus and for fertility. Mediates epithelial estrogen responses in the uterus by regulating ESR1 levels and activation. Important for regulation of endometrium cell proliferation. Important for normal prenatal and perinatal lung development (By similarity).',NULL,NULL,NULL,NULL,NULL),(634,'UniProt Function',NULL,760,NULL,'Protects the hemoglobin in erythrocytes from oxidative breakdown.',NULL,NULL,NULL,NULL,NULL),(635,'UniProt Function',NULL,761,NULL,'Could play a major role in protecting mammals from the toxicity of ingested organic hydroperoxides. Tert-butyl hydroperoxide, cumene hydroperoxide and linoleic acid hydroperoxide but not phosphatidycholine hydroperoxide, can act as acceptors.',NULL,NULL,NULL,NULL,NULL),(636,'UniProt Function',NULL,762,NULL,'Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione.',NULL,NULL,NULL,NULL,NULL),(637,'UniProt Function',NULL,763,NULL,'May constitute a novel regulatory system for basal transcription. Negatively regulates ABT1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(638,'UniProt Function',NULL,764,NULL,'It protects esophageal epithelia from hydrogen peroxide-induced oxidative stress. It suppresses acidic bile acid-induced reactive oxigen species (ROS) and protects against oxidative DNA damage and double-strand breaks.',NULL,NULL,NULL,NULL,NULL),(639,'UniProt Function',NULL,765,NULL,'Involved in angiogenesis; promotes angiogenic sprouting. May have potent implications in lung endothelial cell-leukocyte interactions.',NULL,NULL,NULL,NULL,NULL),(640,'UniProt Function',NULL,766,NULL,'Binds to but does not cross-link actin. Required for the formation and maintenance of inner ear hair cell stereocilia and staircase formation. Essential for normal hearing.',NULL,NULL,NULL,NULL,NULL),(641,'UniProt Function',NULL,767,NULL,'Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA-binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial association with multiprotein coactivator complexes through LXXLL motifs of their respective components. Mutual transrepression occurs between the estrogen receptor (ER) and NF-kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA-binding activity and inhibits NF-kappa-B-mediated transcription from the IL6 promoter and displace RELA/p65 and associated coregulators from the promoter. Recruited to the NF-kappa-B response element of the CCL2 and IL8 promoters and can displace CREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50 on ERE sequences. Can also act synergistically with NF-kappa-B to activate transcription involving respective recruitment adjacent response elements; the function involves CREBBP. Can activate the transcriptional activity of TFF1. Also mediates membrane-initiated estrogen signaling involving various kinase cascades. Isoform 3 is involved in activation of NOS3 and endothelial nitric oxide production. Isoforms lacking one or several functional domains are thought to modulate transcriptional activity by competitive ligand or DNA binding and/or heterodimerization with the full-length receptor. Essential for MTA1-mediated transcriptional regulation of BRCA1 and BCAS3. Isoform 3 can bind to ERE and inhibit isoform 1.',NULL,NULL,NULL,NULL,NULL),(642,'UniProt Function',NULL,768,NULL,'Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Shows low catalytic efficiency for hydrolysis of CPT-11 (7-ethyl-10-[4-(1-piperidino)-1-piperidino]-carbonyloxycamptothecin), a prodrug for camptothecin used in cancer therapeutics.',NULL,NULL,NULL,NULL,NULL),(643,'UniProt Function',NULL,769,NULL,'Probable carboxylesterase.',NULL,NULL,NULL,NULL,NULL),(644,'UniProt Function',NULL,770,NULL,'Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs.',NULL,NULL,NULL,NULL,NULL),(645,'UniProt Function',NULL,772,NULL,'Cytotoxic chymotrypsin-like serine protease with preference for bulky and aromatic residues at the P1 position and acidic residues at the P3\' and P4\' sites. Probably necessary for target cell lysis in cell-mediated immune responses. Participates in the antiviral response via direct cleavage of several proteins essential for viral replication.',NULL,NULL,NULL,NULL,NULL),(646,'UniProt Function',NULL,773,NULL,'Cleaves peptide substrates after methionine, leucine, and norleucine. Physiological substrates include EZR, alpha-tubulins and the apoptosis inhibitor BIRC5/Survivin. Promotes caspase activation and subsequent apoptosis of target cells.',NULL,NULL,NULL,NULL,NULL),(647,'UniProt Function',NULL,774,NULL,'Calcium-binding protein that may play a role in the adhesion of neutrophils to fibronectin. May play a role in the formation of focal adhesions.',NULL,NULL,NULL,NULL,NULL),(648,'UniProt Function',NULL,775,NULL,'Regulates the endosomal recycling back to the neuronal plasma membrane, possibly by connecting early and late recycling endosomal domains and promoting segregation of recycling endosomes from early endosomal membranes. Involved in the localization of recycling endosomes to dendritic spines, thereby playing a role in the maintenance of dendritic spine morphology. Required for the activity-induced AMPA receptor recycling to dendrite membranes and for long-term potentiation and synaptic plasticity (By similarity).',NULL,NULL,NULL,NULL,NULL),(649,'UniProt Function',NULL,775,NULL,'GRASP-1 C-terminal chain: Functions as a scaffold protein to facilitate MAP3K1/MEKK1-mediated activation of the JNK1 kinase by phosphorylation, possibly by bringing MAP3K1/MEKK1 and JNK1 in close proximity.',NULL,NULL,NULL,NULL,NULL),(650,'UniProt Function',NULL,777,NULL,'Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses.',NULL,NULL,NULL,NULL,NULL),(651,'UniProt Function',NULL,778,NULL,'Replication stress response protein that accumulates at DNA damage sites and promotes replication fork progression and integrity (PubMed:27601467, PubMed:27723720, PubMed:27723717). Recruited to stalled replication forks via interaction with the RPA complex and directly stimulates ATR kinase activity independently of TOPBP1 (PubMed:27723720, PubMed:27723717). Probably only regulates a subset of ATR targets (PubMed:27723720, PubMed:27723717).',NULL,NULL,NULL,NULL,NULL),(652,'UniProt Function',NULL,779,NULL,'Adapter protein which modulates coupling of cell surface receptor kinases with specific signaling pathways. Binds to, and suppresses signals from, the activated insulin receptor (INSR). Potent inhibitor of insulin-stimulated MAPK3 phosphorylation. Plays a critical role regulating PDPK1 membrane translocation in response to insulin stimulation and serves as an adapter protein to recruit PDPK1 to activated insulin receptor, thus promoting PKB/AKT1 phosphorylation and transduction of the insulin signal.',NULL,NULL,NULL,NULL,NULL),(653,'UniProt Function',NULL,780,NULL,'Plays a major role in early metanephros and genital development.',NULL,NULL,NULL,NULL,NULL),(654,'UniProt Function',NULL,781,NULL,'Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway.',NULL,NULL,NULL,NULL,NULL),(655,'UniProt Function',NULL,781,NULL,'Isoform 2 does not bind to phosphorylated epidermal growth factor receptor (EGFR) but inhibits EGF-induced transactivation of a RAS-responsive element. Isoform 2 acts as a dominant negative protein over GRB2 and by suppressing proliferative signals, may trigger active programmed cell death.',NULL,NULL,NULL,NULL,NULL),(656,'UniProt Function',NULL,782,NULL,'Adapter protein that interacts with the cytoplasmic domain of numerous receptor kinases and modulates down-stream signaling. Promotes activation of down-stream protein kinases, including STAT3, AKT1, MAPK1 and/or MAPK3. Promotes activation of HRAS. Plays a role in signal transduction in response to EGF. Plays a role in the regulation of cell proliferation and cell migration. Plays a role in the assembly and stability of RNA stress granules. Binds to the 5\'UTR of target mRNA molecules and represses translation of target mRNA species, when not phosphorylated. Phosphorylation impairs RNA binding and promotes stress granule disassembly during recovery after cellular stress (By similarity).',NULL,NULL,NULL,NULL,NULL),(657,'UniProt Function',NULL,783,NULL,'Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:27499296, PubMed:15159392, PubMed:15975918, PubMed:9334218, PubMed:10356313). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:9334218). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:1882842, PubMed:1430199).',NULL,NULL,NULL,NULL,NULL),(658,'UniProt Function',NULL,784,NULL,'Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN1 is the most important isozyme under normoxia and, through regulating the stability of HIF1, involved in various hypoxia-influenced processes such as angiogenesis in retinal and cardiac functionality. Target proteins are preferentially recognized via a LXXLAP motif.',NULL,NULL,NULL,NULL,NULL),(659,'UniProt Function',NULL,785,NULL,'EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. Can induce neurite outgrowth in motoneurons of the pond snail Lymnaea stagnalis in vitro (PubMed:10964941).',NULL,NULL,NULL,NULL,NULL),(660,'UniProt Function',NULL,786,NULL,'Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment. Specifically present in excitatory synapses onto oriens-lacunosum molecular (OLM) interneurons and acts as a regulator of presynaptic release probability to direct the formation of highly facilitating pyramidal-OLM synapses (By similarity). Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.',NULL,NULL,NULL,NULL,NULL),(661,'UniProt Function',NULL,787,NULL,'Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer.',NULL,NULL,NULL,NULL,NULL),(662,'UniProt Function',NULL,788,NULL,'Involved in both transcriptional activation and repression. Interaction with SIRT7 leads to recruitment and stabilization of SIRT7 at promoters, followed by deacetylation of histone H3 at \'Lys-18\' (H3K18Ac) and subsequent transcription repression. Forms a ternary complex with the serum response factor (SRF). Requires DNA-bound SRF for ternary complex formation and makes extensive DNA contacts to the 5\'side of SRF, but does not bind DNA autonomously.',NULL,NULL,NULL,NULL,NULL),(663,'UniProt Function',NULL,789,NULL,'Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.',NULL,NULL,NULL,NULL,NULL),(664,'UniProt Function',NULL,790,NULL,'Can hydrolyze NAD but cannot hydrolyze nucleotide di- and triphosphates. Lacks lysopholipase D activity. May play a role in neuronal cell communication.',NULL,NULL,NULL,NULL,NULL),(665,'UniProt Function',NULL,791,NULL,'In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Hydrolyzes ADP only to a marginal extent. The order of activity with different substrates is ATP > GTP > CTP = ITP > UTP >> ADP = UDP.',NULL,NULL,NULL,NULL,NULL),(666,'UniProt Function',NULL,792,NULL,'Binds activated protein C. Enhances protein C activation by the thrombin-thrombomodulin complex; plays a role in the protein C pathway controlling blood coagulation.',NULL,NULL,NULL,NULL,NULL),(667,'UniProt Function',NULL,793,NULL,'Receptor tyrosine kinase which binds membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous, it has the unique property among Eph receptors to bind and to be physiologically activated by both GPI-anchored ephrin-A and transmembrane ephrin-B ligands including EFNA1 and EFNB3. Upon activation by ephrin ligands, modulates cell morphology and integrin-dependent cell adhesion through regulation of the Rac, Rap and Rho GTPases activity. Plays an important role in the development of the nervous system controlling different steps of axonal guidance including the establishment of the corticospinal projections. May also control the segregation of motor and sensory axons during neuromuscular circuit development. In addition to its role in axonal guidance plays a role in synaptic plasticity. Activated by EFNA1 phosphorylates CDK5 at \'Tyr-15\' which in turn phosphorylates NGEF regulating RHOA and dendritic spine morphogenesis. In the nervous system, plays also a role in repair after injury preventing axonal regeneration and in angiogenesis playing a role in central nervous system vascular formation. Additionally, its promiscuity makes it available to participate in a variety of cell-cell signaling regulating for instance the development of the thymic epithelium.',NULL,NULL,NULL,NULL,NULL),(668,'UniProt Function',NULL,794,NULL,'Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5\'-TACGTG-3\' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD (By similarity).',NULL,NULL,NULL,NULL,NULL),(669,'UniProt Function',NULL,795,NULL,'Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. The GPI-anchored ephrin-A EFNA2, EFNA3, and EFNA5 are able to activate EPHA8 through phosphorylation. With EFNA5 may regulate integrin-mediated cell adhesion and migration on fibronectin substrate but also neurite outgrowth. During development of the nervous system plays also a role in axon guidance. Downstream effectors of the EPHA8 signaling pathway include FYN which promotes cell adhesion upon activation by EPHA8 and the MAP kinases in the stimulation of neurite outgrowth (By similarity).',NULL,NULL,NULL,NULL,NULL),(670,'UniProt Function',NULL,796,NULL,'Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Cognate/functional ephrin ligands for this receptor include EFNB1, EFNB2 and EFNB3. During nervous system development, regulates retinal axon guidance redirecting ipsilaterally ventrotemporal retinal ganglion cells axons at the optic chiasm midline. This probably requires repulsive interaction with EFNB2. In the adult nervous system together with EFNB3, regulates chemotaxis, proliferation and polarity of the hippocampus neural progenitors. In addition to its role in axon guidance plays also an important redundant role with other ephrin-B receptors in development and maturation of dendritic spines and synapse formation. May also regulate angiogenesis. More generally, may play a role in targeted cell migration and adhesion. Upon activation by EFNB1 and probably other ephrin-B ligands activates the MAPK/ERK and the JNK signaling cascades to regulate cell migration and adhesion respectively. Involved in the maintenance of the pool of satellite cells (muscle stem cells) by promoting their self-renewal and reducing their activation and differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(671,'UniProt Function',NULL,797,NULL,'Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3\' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly.',NULL,NULL,NULL,NULL,NULL),(672,'UniProt Function',NULL,798,NULL,'Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Together with its cognate ligand/functional ligand EFNB2 plays a central role in heart morphogenesis and angiogenesis through regulation of cell adhesion and cell migration. EPHB4-mediated forward signaling controls cellular repulsion and segregation form EFNB2-expressing cells. Plays also a role in postnatal blood vessel remodeling, morphogenesis and permeability and is thus important in the context of tumor angiogenesis.',NULL,NULL,NULL,NULL,NULL),(673,'UniProt Function',NULL,800,NULL,'Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation, differentiation, migration and apoptosis. Required for normal cardiac muscle differentiation during embryonic development, and for postnatal cardiomyocyte proliferation. Required for normal development of the embryonic central nervous system, especially for normal neural crest cell migration and normal axon guidance. Required for mammary gland differentiation, induction of milk proteins and lactation. Acts as cell-surface receptor for the neuregulins NRG1, NRG2, NRG3 and NRG4 and the EGF family members BTC, EREG and HBEGF. Ligand binding triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Ligand specificity and signaling is modulated by alternative splicing, proteolytic processing, and by the formation of heterodimers with other ERBB family members, thereby creating multiple combinations of intracellular phosphotyrosines that trigger ligand- and context-specific cellular responses. Mediates phosphorylation of SHC1 and activation of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Isoform JM-A CYT-1 and isoform JM-B CYT-1 phosphorylate PIK3R1, leading to the activation of phosphatidylinositol 3-kinase and AKT1 and protect cells against apoptosis. Isoform JM-A CYT-1 and isoform JM-B CYT-1 mediate reorganization of the actin cytoskeleton and promote cell migration in response to NRG1. Isoform JM-A CYT-2 and isoform JM-B CYT-2 lack the phosphotyrosine that mediates interaction with PIK3R1, and hence do not phosphorylate PIK3R1, do not protect cells against apoptosis, and do not promote reorganization of the actin cytoskeleton and cell migration. Proteolytic processing of isoform JM-A CYT-1 and isoform JM-A CYT-2 gives rise to the corresponding soluble intracellular domains (4ICD) that translocate to the nucleus, promote nuclear import of STAT5A, activation of STAT5A, mammary epithelium differentiation, cell proliferation and activation of gene expression. The ERBB4 soluble intracellular domains (4ICD) colocalize with STAT5A at the CSN2 promoter to regulate transcription of milk proteins during lactation. The ERBB4 soluble intracellular domains can also translocate to mitochondria and promote apoptosis.',NULL,NULL,NULL,NULL,NULL),(674,'UniProt Function',NULL,801,NULL,'Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated \'Tyr-1248\' of receptor ERBB2, it may contribute to stabilize this unphosphorylated state (PubMed:16203728). Inhibits NOD2-dependent NF-kappa-B signaling and proinflammatory cytokine secretion (PubMed:16203728).',NULL,NULL,NULL,NULL,NULL),(675,'UniProt Function',NULL,802,NULL,'Involved in translation termination in response to the termination codons UAA, UAG and UGA. Stimulates the activity of ERF1. Involved in regulation of mammalian cell growth. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons.',NULL,NULL,NULL,NULL,NULL),(676,'UniProt Function',NULL,803,NULL,'Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure.',NULL,NULL,NULL,NULL,NULL),(677,'UniProt Function',NULL,804,NULL,'May have a role in the cell cycle.',NULL,NULL,NULL,NULL,NULL),(678,'UniProt Function',NULL,805,NULL,'Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non-glycosylated proteins and glycoproteins.',NULL,NULL,NULL,NULL,NULL),(679,'UniProt Function',NULL,806,NULL,'Plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of myelinogenesis as well as in maintenance and stability of myelin sheath in the adult. May play an important role in late-stage oligodendroglia maturation, myelin/Ranvier node formation during CNS development, and in the maintenance and plasticity of related structures in the mature CNS (By similarity).',NULL,NULL,NULL,NULL,NULL),(680,'UniProt Function',NULL,807,NULL,'Within the ovary, required for the organization of somatic cells and oocytes into discrete follicular structures.',NULL,NULL,NULL,NULL,NULL),(681,'UniProt Function',NULL,808,NULL,'Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(682,'UniProt Function',NULL,809,NULL,'Orphan receptor with constitutive G(i) signaling activity that activate cyclic AMP.',NULL,NULL,NULL,NULL,NULL),(683,'UniProt Function',NULL,810,NULL,'Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Other protein disulfide isomerase family members can also be reoxidized, but at lower rates compared to P4HB, including PDIA2 (50% of P4HB reoxidation rate), as well as PDIA3, PDIA4, PDIA6 and NXNDC12 (<10%). Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. May be involved in oxidative proinsulin folding in pancreatic cells, hence may play a role in glucose homeostasis.',NULL,NULL,NULL,NULL,NULL),(684,'UniProt Function',NULL,811,NULL,'Orphan receptor. Possible candidate for amine-like G-protein coupled receptor.',NULL,NULL,NULL,NULL,NULL),(685,'UniProt Function',NULL,812,NULL,'Does not seem to be a disulfide isomerase. Plays an important role in the processing of secretory proteins within the endoplasmic reticulum (ER), possibly by participating in the folding of proteins in the ER.',NULL,NULL,NULL,NULL,NULL),(686,'UniProt Function',NULL,813,NULL,'Acts as a receptor for kynurenic acid, an intermediate in the tryptophan metabolic pathway. The activity of this receptor is mediated by G-proteins that elicit calcium mobilization and inositol phosphate production through G(qi/o) proteins.',NULL,NULL,NULL,NULL,NULL),(687,'UniProt Function',NULL,814,NULL,'Receptor for the neuroprotective and glioprotective factor prosaposin. Ligand binding induces endocytosis, followed by an ERK phosphorylation cascade.',NULL,NULL,NULL,NULL,NULL),(688,'UniProt Function',NULL,815,NULL,'Orphan receptor with constitutive G(s) signaling activity that activate cyclic AMP. Has a potential role in modulating a number of brain functions, including behavioral responses to stress (By similarity), amyloid-beta peptide generation in neurons and neurite outgrowth (By similarity). Maintains also meiotic arrest in oocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(689,'UniProt Function',NULL,816,NULL,'Proton-sensing receptor coupled to several G-proteins, including G(s), G(13) and G(q)/G(11) proteins, leading to cAMP production.',NULL,NULL,NULL,NULL,NULL),(690,'UniProt Function',NULL,817,NULL,'Gs-coupled receptor activated by antipsychotics reserpine leading to an increase in intracellular cAMP and its internalization (PubMed:24587241). May play a role in locomotor activity through modulation of dopamine, NMDA and ADORA2A-induced locomotor activity. These behavioral changes are accompanied by modulation of the dopamine receptor signaling pathway in striatum (PubMed:24587241). Modulates HTT level via cAMP-dependent but PKA independent mechanisms throught activation of RAB39B that translocates HTT to the endoplasmic reticulum, thus avoiding proteasome degradation (PubMed:25738228).',NULL,NULL,NULL,NULL,NULL),(691,'UniProt Function',NULL,818,NULL,'May be involved in hyperalgesia associated with inflammatory and neuropathic pain (By similarity). Receptor for L-alpha-lysophosphatidylinositol (LPI). LPI induces Ca(2+) release from intracellular stores via the heterotrimeric G protein GNA13 and RHOA. Putative cannabinoid receptor. May play a role in bone physiology by regulating osteoclast number and function.',NULL,NULL,NULL,NULL,NULL),(692,'UniProt Function',NULL,819,NULL,'Orphan G-protein coupled receptor. Constitutively activates the G(s)-alpha/cAMP signaling pathway (PubMed:28827538). Shows a reciprocal regulatory interaction with the melatonin receptor MTNR1B most likely through receptor heteromerization (PubMed:28827538). May be involved in the regulation of food intake and body weight (By similarity).',NULL,NULL,NULL,NULL,NULL),(693,'UniProt Function',NULL,820,NULL,'Orphan G-protein coupled receptor. Constitutively activates the G(q/11)/inositol phosphate and the G(s)-alpha/cAMP signaling pathways (PubMed:28827538). Has spontaneous activity for beta-arrestin recruitment (PubMed:28827538). Shows a reciprocal modulation of signaling functions with the melatonin receptor MTNR1B most likely through receptor heteromerization (PubMed:28827538).',NULL,NULL,NULL,NULL,NULL),(694,'UniProt Function',NULL,821,NULL,'Orphan receptor. May play a role in brain function.',NULL,NULL,NULL,NULL,NULL),(695,'UniProt Function',NULL,822,NULL,'Orphan receptor with constitutive G(s) signaling activity that activate cyclic AMP. Promotes neurite outgrowth and blocks myelin inhibition in neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(696,'UniProt Function',NULL,823,NULL,'G protein-coupled receptor that is activated by the chemokine CCL5/RANTES. Probably coupled to heterotrimeric Gq proteins, it stimulates inositol trisphosphate production and calcium mobilization upon activation. Together with CCL5/RANTES, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. CCL5/RANTES may also regulate insulin secretion by pancreatic islet cells through activation of this receptor.',NULL,NULL,NULL,NULL,NULL),(697,'UniProt Function',NULL,824,NULL,'Orphan receptor. Displays a significant level of constitutive activity. Its effect is mediated by G(s)-alpha protein that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP.',NULL,NULL,NULL,NULL,NULL),(698,'UniProt Function',NULL,825,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(699,'UniProt Function',NULL,826,NULL,'Orphan receptor. Could be a neuropeptide Y receptor.',NULL,NULL,NULL,NULL,NULL),(700,'UniProt Function',NULL,827,NULL,'Receptor for medium-chain free fatty acid (FFA) with carbon chain lengths of C9 to C14. Capric acid (C10:0), undecanoic acid (C11:0) and lauric acid (C12:0) are the most potent agonists. Not activated by short-chain and long-chain saturated and unsaturated FFAs. Activation by medium-chain free fatty acid is coupled to a pertussis toxin sensitive G(i/o) protein pathway. May have important roles in processes from fatty acid metabolism to regulation of the immune system.',NULL,NULL,NULL,NULL,NULL),(701,'UniProt Function',NULL,828,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(702,'UniProt Function',NULL,829,NULL,'Receptor for lysophosphatidic acid (LPA). Necessary for p53/TP53-dependent survival in response to DNA damage.',NULL,NULL,NULL,NULL,NULL),(703,'UniProt Function',NULL,830,NULL,'Probable G-protein coupled receptor implicated in a large repertoire of behavioral responses that engage motor activities, spatial learning, and emotional processing. May play a role in the regulation of cognitive and motor function.',NULL,NULL,NULL,NULL,NULL),(704,'UniProt Function',NULL,831,NULL,'Plays a role in the binding between sperm and oocytes. Component of epididymosomes, one type of membranous microvesicules which mediate the transfer of lipids and proteins to spermatozoa plasma membrane during epididymal maturation. Also component of the CD9-positive microvesicules found in the cauda region.',NULL,NULL,NULL,NULL,NULL),(705,'UniProt Function',NULL,832,NULL,'Key regulator of inflammation, lipid metabolism and mitochondrion homeostasis that acts by inhibiting the activity of the ubiquitin-conjugating enzyme UBE2N/Ubc13, thereby inhibiting \'Lys-63\'-linked ubiquitination (By similarity). In the nucleus, can both acts as a corepressor and coactivator of transcription, depending on the context (PubMed:24943844). Acts as a transcription coactivator in adipocytes by promoting the recruitment of PPARG to promoters: acts by inhibiting the activity of the ubiquitin-conjugating enzyme UBE2N/Ubc13, leading to stabilization of KDM4A and subsequent histone H3 \'Lys-9\' (H3K9) demethylation (By similarity). Promotes cholesterol efflux by acting as a transcription coactivator (PubMed:19481530). Acts as a regulator of B-cell development by inhibiting UBE2N/Ubc13, thereby restricting the activation of Toll-like receptors (TLRs) and B-cell antigen receptors (BCRs) signaling pathways (By similarity). Acts as a key mediator of mitochondrial stress response: in response to mitochondrial depolarization, relocates from the mitochondria to the nucleus following desumoylation and specifically promotes expression of nuclear-encoded mitochondrial genes (PubMed:29499132). Promotes transcription of nuclear-encoded mitochondrial genes by inhibiting UBE2N/Ubc13 (PubMed:29499132). Can also act as a corepressor as part of the N-Cor repressor complex by repressing active PPARG (PubMed:19858209, PubMed:24943844). Plays an anti-inflammatory role in macrophages and is required for insulin sensitivity by acting as a corepressor (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by interacting with sumoylated NR1H2 and NR5A2 proteins, thereby preventing N-Cor corepressor complex dissociation (PubMed:20159957). In the cytosol, also plays a non-transcriptional role by regulating insulin signaling and pro-inflammatory pathways (By similarity). In the cytoplasm, acts as a negative regulator of inflammation by inhibiting the proinflammatory TNF-alpha pathway; acts by repressing UBE2N/Ubc13 activity (By similarity). In the cytoplasm of adipocytes, restricts the activation of insulin signaling via inhibition of UBE2N/Ubc13-mediated ubiquitination of AKT (By similarity). Able to suppress G-protein- and mitogen-activated protein kinase-mediated signal transduction (PubMed:8943324). Acts as a tumor-suppressor in liposarcoma (PubMed:27460081).',NULL,NULL,NULL,NULL,NULL),(706,'UniProt Function',NULL,832,NULL,'(Microbial infection) Required for efficient replication of hepatitis C virus (HCV) by promoting the interaction between VAPA and HCV virus protein NS5A.',NULL,NULL,NULL,NULL,NULL),(707,'UniProt Function',NULL,833,NULL,'Interacts with subunit of G(i) alpha proteins and regulates the activation of G(i) alpha proteins.',NULL,NULL,NULL,NULL,NULL),(708,'UniProt Function',NULL,836,NULL,'Enhances the ATPase activity of DHX15 in vitro.',NULL,NULL,NULL,NULL,NULL),(709,'UniProt Function',NULL,839,NULL,'Catalyzes the initial step of dolichol-linked oligosaccharide biosynthesis in N-linked protein glycosylation pathway: transfers GlcNAc-1-P from UDP-GlcNAc onto the carrier lipid dolichyl phosphate (P-dolichol), yielding GlcNAc-P-P-dolichol.',NULL,NULL,NULL,NULL,NULL),(710,'UniProt Function',NULL,840,NULL,'The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis.',NULL,NULL,NULL,NULL,NULL),(711,'UniProt Function',NULL,841,NULL,'Essential antioxidant peroxidase that directly reduces phospholipid hydroperoxide even if they are incorporated in membranes and lipoproteins (By similarity). Can also reduce fatty acid hydroperoxide, cholesterol hydroperoxide and thymine hydroperoxide (By similarity). Plays a key role in protecting cells from oxidative damage by preventing membrane lipid peroxidation (By similarity). Required to prevent cells from ferroptosis, a non-apoptotic cell death resulting from an iron-dependent accumulation of lipid reactive oxygen species (PubMed:24439385). The presence of selenocysteine (Sec) versus Cys at the active site is essential for life: it provides resistance to overoxidation and prevents cells against ferroptosis (By similarity). The presence of Sec at the active site is also essential for the survival of a specific type of parvalbumin-positive interneurons, thereby preventing against fatal epileptic seizures (By similarity). May be required to protect cells from the toxicity of ingested lipid hydroperoxides (By similarity). Required for normal sperm development and male fertility (By similarity). Essential for maturation and survival of photoreceptor cells (By similarity). Plays a role in a primary T-cell response to viral and parasitic infection by protecting T-cells from ferroptosis and by supporting T-cell expansion (By similarity).',NULL,NULL,NULL,NULL,NULL),(712,'UniProt Function',NULL,842,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(713,'UniProt Function',NULL,843,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(714,'UniProt Function',NULL,844,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(715,'UniProt Function',NULL,845,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-1 GABA receptor could play a role in retinal neurotransmission.',NULL,NULL,NULL,NULL,NULL),(716,'UniProt Function',NULL,847,NULL,'Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations (By similarity). Functions as a ubiquitin ligase protein in vivo, mediating \'Lys48\'-linked polyubiquitination and promoting degradation of TBK1, targeting to TBK1 requires interaction with NLRP4.',NULL,NULL,NULL,NULL,NULL),(717,'UniProt Function',NULL,849,NULL,'Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production (PubMed:26975899). May play a role in neuronal differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(718,'UniProt Function',NULL,850,NULL,'The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus.',NULL,NULL,NULL,NULL,NULL),(719,'UniProt Function',NULL,851,NULL,'Required for the assembly of the SMN complex that plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:16857593, PubMed:18984161, PubMed:20513430). Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161). Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus (PubMed:18984161). GEMIN5 acts as the snRNA-binding protein of the SMN complex (PubMed:11714716, PubMed:16857593, PubMed:19377484, PubMed:19750007, PubMed:20513430, PubMed:27834343, PubMed:27881600, PubMed:27881601). Binds to the 7-methylguanosine cap of RNA molecules (PubMed:19750007, PubMed:27834343, PubMed:27881600, PubMed:27881601, Ref.25). Binds to the 3\'-UTR of SMN1 mRNA and regulates its translation; does not affect mRNA stability (PubMed:25911097). May play a role in the regulation of protein synthesis via its interaction with ribosomes (PubMed:27507887).',NULL,NULL,NULL,NULL,NULL),(720,'UniProt Function',NULL,852,NULL,'The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus.',NULL,NULL,NULL,NULL,NULL),(721,'UniProt Function',NULL,853,NULL,'Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Induces compartmentalized signaling within a caveolae-like membrane microdomain when bound to the extracellular domain of its cognate receptor. This signaling event requires the activity of the Fyn tyrosine kinase. Activates the EPHA3 receptor to regulate cell-cell adhesion and cytoskeletal organization. With the receptor EPHA2 may regulate lens fiber cells shape and interactions and be important for lens transparency maintenance. May function actively to stimulate axon fasciculation. The interaction of EFNA5 with EPHA5 also mediates communication between pancreatic islet cells to regulate glucose-stimulated insulin secretion. Cognate/functional ligand for EPHA7, their interaction regulates brain development modulating cell-cell adhesion and repulsion.',NULL,NULL,NULL,NULL,NULL),(722,'UniProt Function',NULL,854,NULL,'Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development (PubMed:8070404, PubMed:7973638). Binding to Eph receptors residing on adjacent cells leads to contact-dependent bidirectional signaling into neighboring cells (PubMed:8070404, PubMed:7973638). Shows high affinity for the receptor tyrosine kinase EPHB1/ELK (PubMed:8070404, PubMed:7973638). Can also bind EPHB2 and EPHB3 (PubMed:8070404). Binds to, and induces collapse of, commissural axons/growth cones in vitro (By similarity). May play a role in constraining the orientation of longitudinally projecting axons (By similarity).',NULL,NULL,NULL,NULL,NULL),(723,'UniProt Function',NULL,855,NULL,'Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds to receptor tyrosine kinase including EPHA4, EPHA3 and EPHB4. Together with EPHB4 plays a central role in heart morphogenesis and angiogenesis through regulation of cell adhesion and cell migration. EPHB4-mediated forward signaling controls cellular repulsion and segregation from EFNB2-expressing cells. May play a role in constraining the orientation of longitudinally projecting axons.',NULL,NULL,NULL,NULL,NULL),(724,'UniProt Function',NULL,855,NULL,'(Microbial infection) Acts as a receptor for Hendra virus and Nipah virus.',NULL,NULL,NULL,NULL,NULL),(725,'UniProt Function',NULL,856,NULL,'Could be a regulatory protein, possibly participating in receptor-mediated signal transduction at the plasma membrane. Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity.',NULL,NULL,NULL,NULL,NULL),(726,'UniProt Function',NULL,857,NULL,'Endonuclease which resolves Holliday junctions (HJs) by the introduction of symmetrically related cuts across the junction point, to produce nicked duplex products in which the nicks can be readily ligated. Four-way DNA intermediates, also known as Holliday junctions, are formed during homologous recombination and DNA repair, and their resolution is necessary for proper chromosome segregation (PubMed:19020614, PubMed:26682650). Cleaves HJs by a nick and counter-nick mechanism involving dual coordinated incisions that lead to the formation of ligatable nicked duplex products. Cleavage of the first strand is rate limiting, while second strand cleavage is rapid. Largely monomeric, dimerizes on the HJ and the first nick occurs upon dimerization at the junction (PubMed:26578604). Efficiently cleaves both single and double HJs contained within large recombination intermediates. Exhibits a weak sequence preference for incision between two G residues that reside in a T-rich region of DNA (PubMed:28049850). Has also endonuclease activity on 5\'-flap and replication fork (RF) DNA substrates (PubMed:26578604).',NULL,NULL,NULL,NULL,NULL),(727,'UniProt Function',NULL,858,NULL,'Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.',NULL,NULL,NULL,NULL,NULL),(728,'UniProt Function',NULL,859,NULL,'Transcription repressor essential for hematopoiesis. Functions in a cell-context and development-specific manner. Binds to 5\'-TAAATCAC[AT]GCA-3\' in the promoter region of a large number of genes. Component of several complexes, including the EHMT2-GFI1-HDAC1, AJUBA-GFI1-HDAC1 and RCOR-GFI-KDM1A-HDAC complexes, that suppress, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Regulates neutrophil differentiation, promotes proliferation of lymphoid cells, and is required for granulocyte development. Mediates, together with U2AF1L4, the alternative splicing of CD45 and controls T-cell receptor signaling. Regulates the endotoxin-mediated Toll-like receptor (TLR) inflammatory response by antagonizing RELA. Cooperates with CBFA2T2 to regulate ITGB1-dependent neurite growth. Controls cell-cycle progression by repressing CDKNIA/p21 transcription in response to TGFB1 via recruitment of GFI1 by ZBTB17 to the CDKNIA/p21 and CDKNIB promoters. Required for the maintenance of inner ear hair cells.',NULL,NULL,NULL,NULL,NULL),(729,'UniProt Function',NULL,860,NULL,'Promotes matrix assembly.',NULL,NULL,NULL,NULL,NULL),(730,'UniProt Function',NULL,861,NULL,'Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:25608530, PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3A probably acts as the membrane-anchoring component (PubMed:23229899). Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect (PubMed:25380825).',NULL,NULL,NULL,NULL,NULL),(731,'UniProt Function',NULL,862,NULL,'Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:25608530, PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3B probably acts as the membrane-anchoring component (PubMed:23229899). Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect (PubMed:25380825).',NULL,NULL,NULL,NULL,NULL),(732,'UniProt Function',NULL,863,NULL,'Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May serve as an activator of SRC and a downstream effector. Interacts with the SH3 domain of FYN and with CRK, SRC, and YES (By similarity).',NULL,NULL,NULL,NULL,NULL),(733,'UniProt Function',NULL,864,NULL,'May be involved in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(734,'UniProt Function',NULL,865,NULL,'Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins.',NULL,NULL,NULL,NULL,NULL),(735,'UniProt Function',NULL,866,NULL,'Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+).',NULL,NULL,NULL,NULL,NULL),(736,'UniProt Function',NULL,868,NULL,'Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.',NULL,NULL,NULL,NULL,NULL),(737,'UniProt Function',NULL,869,NULL,'ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes vesiculation of endocytic membranes (PubMed:24019528). Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle (CV), an early step in cilium biogenesis. Proposed to be required for the fusion of distal appendage vesicles (DAVs) to form the CV by recruiting SNARE complex component SNAP29. Is required for recruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67 and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss of CCP110 form the mother centriole essential for the maturation of the basal body during ciliogenesis (PubMed:25686250).',NULL,NULL,NULL,NULL,NULL),(738,'UniProt Function',NULL,870,NULL,'Plays a role into cellular response to oxidative stress. Decreases cell proliferation.',NULL,NULL,NULL,NULL,NULL),(739,'UniProt Function',NULL,871,NULL,'Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Acts as a positive regulator of Wnt signaling pathway by promoting beta-catenin (CTNNB1) nuclear accumulation (PubMed:28829046).',NULL,NULL,NULL,NULL,NULL),(740,'UniProt Function',NULL,873,NULL,'Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity).',NULL,NULL,NULL,NULL,NULL),(741,'UniProt Function',NULL,874,NULL,'Tissue-specific component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination and mediates sumoylation of shelterin complex (telosome) components.',NULL,NULL,NULL,NULL,NULL),(742,'UniProt Function',NULL,874,NULL,'Acts as a repressor of nuclear receptor-dependent transcription possibly by interfering with CREBBP-dependent coactivation. May function as a coinhibitor of other CREBBP/EP300-dependent transcription factors.',NULL,NULL,NULL,NULL,NULL),(743,'UniProt Function',NULL,875,NULL,'SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex).',NULL,NULL,NULL,NULL,NULL),(744,'UniProt Function',NULL,876,NULL,'SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex).',NULL,NULL,NULL,NULL,NULL),(745,'UniProt Function',NULL,877,NULL,'Transcription factor that binds to purine-rich DNA sequences. Forms a ternary complex with SRF and the ETS and SRF motifs of the serum response element (SRE) on the promoter region of immediate early genes such as FOS and IER2. Induces target gene transcription upon JNK-signaling pathway stimulation (By similarity).',NULL,NULL,NULL,NULL,NULL),(746,'UniProt Function',NULL,878,NULL,'May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element.',NULL,NULL,NULL,NULL,NULL),(747,'UniProt Function',NULL,879,NULL,'Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(748,'UniProt Function',NULL,880,NULL,'Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis. Indirectly inhibits RPE65 via production of VLCFAs.',NULL,NULL,NULL,NULL,NULL),(749,'UniProt Function',NULL,881,NULL,'Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). May participate in the production of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.',NULL,NULL,NULL,NULL,NULL),(750,'UniProt Function',NULL,882,NULL,'Transcriptional activator that binds to DNA sequences containing the consensus 5\'-WGGA-3\'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter (By similarity). Also transactivates the PRF1 promoter in natural killer (NK) cells. Plays a role in the development and function of NK and NK T-cells and in innate immunity. Controls the proliferation and homing of CD8+ T-cells via the Kruppel-like factors KLF4 and KLF2 (By similarity). Controls cell senescence in a p53-dependent manner. Can also promote cellular transformation through inhibition of the p16 pathway.',NULL,NULL,NULL,NULL,NULL),(751,'UniProt Function',NULL,883,NULL,'Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:0 acyl-CoAs. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.',NULL,NULL,NULL,NULL,NULL),(752,'UniProt Function',NULL,884,NULL,'Transcriptionally activator that may play a role in regulating the later stages of keratinocytes terminal differentiation.',NULL,NULL,NULL,NULL,NULL),(753,'UniProt Function',NULL,884,NULL,'Isoform 2 binds to DNA sequences containing the consensus nucleotide core sequence GGA[AT]. Transcriptionally activates SPRR2A and the parotid gland-specific PSP promoters.',NULL,NULL,NULL,NULL,NULL),(754,'UniProt Function',NULL,885,NULL,'Lysosomal thiol reductase that can reduce protein disulfide bonds. May facilitate the complete unfolding of proteins destined for lysosomal degradation. Plays an important role in antigen processing. Facilitates the generation of MHC class II-restricted epitodes from disulfide bond-containing antigen by the endocytic reduction of disulfide bonds (By similarity). Facilitates also MHC class I-restricted recognition of exogenous antigens containing disulfide bonds by CD8+ T-cells or crosspresentation (By similarity).',NULL,NULL,NULL,NULL,NULL),(755,'UniProt Function',NULL,886,NULL,'May regulate lymphocyte survival. Required for normal levels of mature T-lymphocytes and mature B-cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(756,'UniProt Function',NULL,887,NULL,'The heterodimer formed by GIMAP2 and GIMAP7 has GTPase activity. In contrast, GIMAP2 has no GTPase activity by itself.',NULL,NULL,NULL,NULL,NULL),(757,'UniProt Function',NULL,888,NULL,'May play a role in regulating lymphocyte apoptosis (By similarity). Exhibits intrisinic GTPase activity. Shows a higher affinity for GDP over GTP (about 12-fold higher), and binding shows an absolute requirement for magnesium.',NULL,NULL,NULL,NULL,NULL),(758,'UniProt Function',NULL,889,NULL,'Required for mitochondrial integrity and T-cell survival. May contribute to T-cell quiescence (By similarity).',NULL,NULL,NULL,NULL,NULL),(759,'UniProt Function',NULL,891,NULL,'The dimer has GTPase activity; the active site contains residues from both subunits.',NULL,NULL,NULL,NULL,NULL),(760,'UniProt Function',NULL,892,NULL,'Exerts an anti-apoptotic effect in the immune system and is involved in responses to infections.',NULL,NULL,NULL,NULL,NULL),(761,'UniProt Function',NULL,896,NULL,'May be involved in G protein-linked signaling.',NULL,NULL,NULL,NULL,NULL),(762,'UniProt Function',NULL,898,NULL,'Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.',NULL,NULL,NULL,NULL,NULL),(763,'UniProt Function',NULL,899,NULL,'This is a receptor for GIP. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.',NULL,NULL,NULL,NULL,NULL),(764,'UniProt Function',NULL,900,NULL,'Potent stimulator of insulin secretion and relatively poor inhibitor of gastric acid secretion.',NULL,NULL,NULL,NULL,NULL),(765,'UniProt Function',NULL,901,NULL,'GTPase-activating protein for the ADP ribosylation factor family. May serve as a scaffold to bring together molecules to form signaling modules controlling vesicle trafficking, adhesion and cytoskeletal organization. Increases the speed of cell migration, as well as the size and rate of formation of protrusions, possibly by targeting PAK1 to adhesions and the leading edge of lamellipodia. Sequesters inactive non-tyrosine-phosphorylated paxillin in cytoplasmic complexes. Involved in the regulation of cytokinesis; the function may involve ENTR1 and PTPN13 (By similarity).',NULL,NULL,NULL,NULL,NULL),(766,'UniProt Function',NULL,902,NULL,'GTPase-activating protein for the ADP ribosylation factor family.',NULL,NULL,NULL,NULL,NULL),(767,'UniProt Function',NULL,903,NULL,'Regulates insulin-dependent IRS1 tyrosine phosphorylation in adipocytes by modulating the availability of IRS1 to IR tyrosine kinase. Its association with IRS1 is required for insulin-induced translocation of SLC2A4 to the cell membrane. Involved in TNF-induced impairment of insulin-dependent IRS1 tyrosine phosphorylation.',NULL,NULL,NULL,NULL,NULL),(768,'UniProt Function',NULL,904,NULL,'Has mitogenic activity and may be involved in maintaining the integrity of the gastric mucosal epithelium.',NULL,NULL,NULL,NULL,NULL),(769,'UniProt Function',NULL,906,NULL,'May inhibit gastric epithelial cell proliferation.',NULL,NULL,NULL,NULL,NULL),(770,'UniProt Function',NULL,907,NULL,'Probable glycosyl hydrolase.',NULL,NULL,NULL,NULL,NULL),(771,'UniProt Function',NULL,908,NULL,'Putative molecular chaperone.',NULL,NULL,NULL,NULL,NULL),(772,'UniProt Function',NULL,909,NULL,'Molecular chaperone that functions in the processing and transport of secreted proteins. When associated with CNPY3, required for proper folding of Toll-like receptors (By similarity). Functions in endoplasmic reticulum associated degradation (ERAD). Has ATPase activity.',NULL,NULL,NULL,NULL,NULL),(773,'UniProt Function',NULL,910,NULL,'Functions as a transcriptional activator playing a crucial role during development. Functions in trophoblast differentiation and later in gastrulation, regulating both mesoderm delamination and endoderm specification. Plays a role in brain development being required for the specification and the proliferation of the intermediate progenitor cells and their progeny in the cerebral cortex. Also involved in the differentiation of CD8+ T-cells during immune response regulating the expression of lytic effector genes.',NULL,NULL,NULL,NULL,NULL),(774,'UniProt Function',NULL,911,NULL,'Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains.',NULL,NULL,NULL,NULL,NULL),(775,'UniProt Function',NULL,913,NULL,'Hydrolase that metabolizes extracellular nucleotides, including ATP, GTP, UTP and CTP (PubMed:29717535). Limits mast cell and basophil responses during inflammation and during the chronic phases of allergic responses by eliminating the extracellular ATP that functions as signaling molecule and activates basophils and mast cells and induces the release of inflammatory cytokines. Metabolizes extracellular ATP in the lumen of the small intestine, and thereby prevents ATP-induced apoptosis of intestinal plasmacytoid dendritic cells (By similarity). Has also alkaline phosphodiesterase activity (PubMed:11342463).',NULL,NULL,NULL,NULL,NULL),(776,'UniProt Function',NULL,914,NULL,'Possible function in sperm maturation.',NULL,NULL,NULL,NULL,NULL),(777,'UniProt Function',NULL,915,NULL,'Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. May be required for transcriptional activation of E2F1 and MYC target genes during cellular proliferation. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. May regulate ZNF42 transcription activity. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.',NULL,NULL,NULL,NULL,NULL),(778,'UniProt Function',NULL,916,NULL,'Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 most probably constitutes the cognate/functional ligand for EPHA5. Functions as an axon guidance molecule during development and may be involved in the development of the retinotectal, entorhino-hippocampal and hippocamposeptal pathways. Together with EFNA5 plays also a role in synaptic plasticity in adult brain through regulation of synaptogenesis. In addition to its function in the nervous system, the interaction of EPHA5 with EFNA5 mediates communication between pancreatic islet cells to regulate glucose-stimulated insulin secretion (By similarity).',NULL,NULL,NULL,NULL,NULL),(779,'UniProt Function',NULL,917,NULL,'May function as an early signal that helps mediate the activation of T-cells.',NULL,NULL,NULL,NULL,NULL),(780,'UniProt Function',NULL,918,NULL,'Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations (By similarity). Regulates receptor-mediated endocytosis.',NULL,NULL,NULL,NULL,NULL),(781,'UniProt Function',NULL,919,NULL,'Plays a role in the formation of clathrin-coated invaginations and endocytosis.',NULL,NULL,NULL,NULL,NULL),(782,'UniProt Function',NULL,920,NULL,'Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play a role in the inactivation of peptide hormones. May be involved in the regulation of blood pressure through the inactivation of angiotensin II and/or the generation of bradykinin in the kidney.',NULL,NULL,NULL,NULL,NULL),(783,'UniProt Function',NULL,921,NULL,'Kinase-defective receptor for members of the ephrin-B family. Binds to ephrin-B1 and ephrin-B2. Modulates cell adhesion and migration by exerting both positive and negative effects upon stimulation with ephrin-B2. Inhibits JNK activation, T-cell receptor-induced IL-2 secretion and CD25 expression upon stimulation with ephrin-B2.',NULL,NULL,NULL,NULL,NULL),(784,'UniProt Function',NULL,922,NULL,'Catalyzes the hydrolysis of epoxide-containing fatty acids. Active in vitro against epoxyeicosatrienoic acids (EETs) including 8,9-EET, 9,10-EET, 11,12-EET and 14,15-EET and leukotoxin.',NULL,NULL,NULL,NULL,NULL),(785,'UniProt Function',NULL,923,NULL,'Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778). May also be activated by CSPG5 (PubMed:15358134).',NULL,NULL,NULL,NULL,NULL),(786,'UniProt Function',NULL,924,NULL,'ATP-dependent 3\'-5\' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATPase activity of XPB/ERCC3, but not its helicase activity, is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. The ATP-dependent helicase activity of XPB/ERCC3 is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.',NULL,NULL,NULL,NULL,NULL),(787,'UniProt Function',NULL,925,NULL,'Chaperone protein which plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis. Interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU (PubMed:26702583). Regulates erythropoiesis via stabilization of ISC assembly (PubMed:21123823, PubMed:26702583). May play a role in the control of cell proliferation and cellular aging (By similarity).',NULL,NULL,NULL,NULL,NULL),(788,'UniProt Function',NULL,926,NULL,'Single-stranded DNA (ssDNA) bidirectional exonuclease involved in DNA repair. Probably involved in DNA repair following ultraviolet (UV) irradiation and interstrand cross-links (ICLs) damage. Has both 5\'-3\' and 3\'-5\' exonuclease activities with a strong preference for 5\'-ends. Acts as a sliding exonuclease that loads at ssDNA ends and then slides along the ssDNA prior to cutting; however the sliding and the 3\'-5\' exonuclease activities are abolished upon binding to the replication protein A (RPA) complex that enforces 5\'-directionality activity.',NULL,NULL,NULL,NULL,NULL),(789,'UniProt Function',NULL,927,NULL,'Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(790,'UniProt Function',NULL,928,NULL,'Non-catalytic component of the RNA exosome complex which has 3\'->5\' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding \'pervasive\' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3\' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC2 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC4 and EXOSC7.',NULL,NULL,NULL,NULL,NULL),(791,'UniProt Function',NULL,929,NULL,'Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (PubMed:12500905, PubMed:23435380). Tyrosine phosphatase that dephosphorylates \'Tyr-142\' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. \'Tyr-142\' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19351884). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Plays an important role in hypaxial muscle development together with SIX1 and DACH2; in this it is functionally redundant with EYA1 (PubMed:12500905).',NULL,NULL,NULL,NULL,NULL),(792,'UniProt Function',NULL,930,NULL,'Tyrosine phosphatase that specifically dephosphorylates \'Tyr-142\' of histone H2AX (H2AXY142ph). \'Tyr-142\' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity).',NULL,NULL,NULL,NULL,NULL),(793,'UniProt Function',NULL,931,NULL,'Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains.',NULL,NULL,NULL,NULL,NULL),(794,'UniProt Function',NULL,932,NULL,'Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis.',NULL,NULL,NULL,NULL,NULL),(795,'UniProt Function',NULL,933,NULL,'May be involved in tumor progression.',NULL,NULL,NULL,NULL,NULL),(796,'UniProt Function',NULL,937,NULL,'Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates. Involved in neuronal specification within specific subdivision of spinal cord neurons and in the development of a coordinated locomotor network controlling limb movements. May regulate transcription during sexual development (By similarity).',NULL,NULL,NULL,NULL,NULL),(797,'UniProt Function',NULL,938,NULL,'Acts as a transcriptional activator. Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina. Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis.',NULL,NULL,NULL,NULL,NULL),(798,'UniProt Function',NULL,941,NULL,'May have a role in neuroendocrine differentiation.',NULL,NULL,NULL,NULL,NULL),(799,'UniProt Function',NULL,943,NULL,'Functions as a ubiquitin ligase protein in vivo, mediating ubiquitination and promoting degradation of MEKK1, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity (By similarity). Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Mainly acts as a positive regulator of Notch, but it also acts as a negative regulator, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhibiting the transcriptional activation mediated by MATCH1. Involved in neurogenesis, lymphogenesis and myogenesis, and may also be involved in MZB (Marginal zone B) cell differentiation. Promotes B-cell development at the expense of T-cell development, suggesting that it can antagonize NOTCH1.',NULL,NULL,NULL,NULL,NULL),(800,'UniProt Function',NULL,944,NULL,'Dual specificity protein phosphatase; active with phosphotyrosine, phosphoserine and phosphothreonine residues. The highest relative activity is toward ERK1.',NULL,NULL,NULL,NULL,NULL),(801,'UniProt Function',NULL,945,NULL,'Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain.',NULL,NULL,NULL,NULL,NULL),(802,'UniProt Function',NULL,946,NULL,'Protein phosphatase involved in the inactivation of MAP kinases. Has a specificity for the MAPK11/MAPK12/MAPK13/MAPK14 subfamily. It preferably dephosphorylates p38.',NULL,NULL,NULL,NULL,NULL),(803,'UniProt Function',NULL,947,NULL,'Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins.',NULL,NULL,NULL,NULL,NULL),(804,'UniProt Function',NULL,948,NULL,'Brainstem-restricted receptor for GDF15 which regulates food intake, energy expenditure and body weight in response to metabolic and toxin-induced stresses (PubMed:28953886, PubMed:28846097, PubMed:28846098, PubMed:28846099). Upon interaction with its ligand, GDF15, interacts with RET and induces cellular signaling through activation of MAPK- and AKT- signaling pathways.',NULL,NULL,NULL,NULL,NULL),(805,'UniProt Function',NULL,962,NULL,'Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif (PubMed:11301005, PubMed:15886016). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:27901063). Required for targeting PKD1:PKD2 complex from the trans-Golgi network to the cilium membrane (By similarity). Regulates retrograde transport of proteins such as phosphorylated form of BACE1 from endosomes to the trans-Golgi network (PubMed:15886016, PubMed:15615712).',NULL,NULL,NULL,NULL,NULL),(806,'UniProt Function',NULL,964,NULL,'Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif (PubMed:10747088). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:27901063). Regulates retrograde transport of phosphorylated form of BACE1 from endosomes to the trans-Golgi network (PubMed:15615712).',NULL,NULL,NULL,NULL,NULL),(807,'UniProt Function',NULL,965,NULL,'Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif (PubMed:11301005). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:26811329). nvolved in BACE1 transport and sorting as well as regulation of BACE1 protein levels (PubMed:17553422, PubMed:15615712, PubMed:20484053). Regulates retrograde transport of BACE1 from endosomes to the trans-Golgi network via interaction through the VHS motif and dependent of BACE1 phosphorylation (PubMed:15615712). Modulates BACE1 protein levels intedepently of the interaction between VHS domain and DXXLL motif through recognition of ubiquitination (PubMed:20484053). Key player in a novel DXXLL-mediated endosomal sorting machinery to the recycling pathway that targets NTRK1 to the plasma membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(808,'UniProt Function',NULL,966,NULL,'Contributes to degradation of proteins cross-linked by transglutaminases by degrading the cross-link between a lysine and a glutamic acid residue. Catalyzes the formation of 5-oxo-L-proline from L-gamma-glutamyl-L-epsilon-lysine. Inactive with L-gamma-glutamyl-alpha-amino acid substrates such as L-gamma-glutamyl-L-alpha-cysteine and L-gamma-glutamyl-L-alpha-alanine.',NULL,NULL,NULL,NULL,NULL),(809,'UniProt Function',NULL,967,NULL,'Catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides and may play a significant role in glutathione homeostasis. Induces release of cytochrome c from mitochondria with resultant induction of apoptosis.',NULL,NULL,NULL,NULL,NULL),(810,'UniProt Function',NULL,970,NULL,'Hydrolyzes the polyglutamate sidechains of pteroylpolyglutamates. Progressively removes gamma-glutamyl residues from pteroylpoly-gamma-glutamate to yield pteroyl-alpha-glutamate (folic acid) and free glutamate. May play an important role in the bioavailability of dietary pteroylpolyglutamates and in the metabolism of pteroylpolyglutamates and antifolates.',NULL,NULL,NULL,NULL,NULL),(811,'UniProt Function',NULL,971,NULL,'May be involved in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(812,'UniProt Function',NULL,972,NULL,'May be involved in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(813,'UniProt Function',NULL,973,NULL,'Initiates extracellular glutathione (GSH) breakdown; catalyzes the transfer of the glutamyl moiety of glutathione to amino acids and dipeptide acceptors.',NULL,NULL,NULL,NULL,NULL),(814,'UniProt Function',NULL,974,NULL,'Required for the mitochondrial tubular network and cristae organization. Involved in apoptotic release of cytochrome c.',NULL,NULL,NULL,NULL,NULL),(815,'UniProt Function',NULL,975,NULL,'Transcriptional regulator (PubMed:20121949). Recognizes and binds to the DNA sequence 5\'-GCG(T/G)GGGCG-3\'(EGR-site) in the promoter region of target genes (By similarity). Binds double-stranded target DNA, irrespective of the cytosine methylation status (PubMed:25258363, PubMed:25999311). Regulates the transcription of numerous target genes, and thereby plays an important role in regulating the response to growth factors, DNA damage, and ischemia. Plays a role in the regulation of cell survival, proliferation and cell death. Activates expression of p53/TP53 and TGFB1, and thereby helps prevent tumor formation. Required for normal progress through mitosis and normal proliferation of hepatocytes after partial hepatectomy. Mediates responses to ischemia and hypoxia; regulates the expression of proteins such as IL1B and CXCL2 that are involved in inflammatory processes and development of tissue damage after ischemia. Regulates biosynthesis of luteinizing hormone (LHB) in the pituitary (By similarity). Regulates the amplitude of the expression rhythms of clock genes: ARNTL/BMAL1, PER2 and NR1D1 in the liver via the activation of PER1 (clock repressor) transcription. Regulates the rhythmic expression of core-clock gene ARNTL/BMAL1 in the suprachiasmatic nucleus (SCN) (By similarity).',NULL,NULL,NULL,NULL,NULL),(816,'UniProt Function',NULL,976,NULL,'RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632, PubMed:11169732). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773, PubMed:27462815).',NULL,NULL,NULL,NULL,NULL),(817,'UniProt Function',NULL,976,NULL,'(Microbial infection) Essential for the initiation of translation on type-1 viral ribosomal entry sites (IRESs), like for HCV, PV, EV71 or BEV translation (PubMed:23766293, PubMed:24357634).',NULL,NULL,NULL,NULL,NULL),(818,'UniProt Function',NULL,976,NULL,'(Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426).',NULL,NULL,NULL,NULL,NULL),(819,'UniProt Function',NULL,977,NULL,'Choline-specific glycerophosphodiester phosphodiesterase. The preferred substrate may be lysosphingomyelin (By similarity). Hydrolyzes lysophosphatidylcholine (LPC) to form monoacylglycerol and phosphorylcholine but not lysophosphatidic acid, showing it has a lysophospholipase C activity. Has a preference for LPC with short (12:0 and 14:0) or polyunsaturated (18:2 and 20:4) fatty acids. Also hydrolyzes glycerophosphorylcholine and sphingosylphosphorylcholine efficiently. Hydrolyzes the classical substrate for phospholipase C, p-nitrophenyl phosphorylcholine in vitro, while it does not hydrolyze the classical nucleotide phosphodiesterase substrate, p-nitrophenyl thymidine 5\'-monophosphate. Does not hydrolyze diacyl phospholipids such as phosphatidylethanolamine, phosphatidylinositol, phosphatidylserine, phosphatidylglycerol and phosphatidic acid.',NULL,NULL,NULL,NULL,NULL),(820,'UniProt Function',NULL,979,NULL,'Hydrolyzes lysophospholipids to produce the signaling molecule lysophosphatidic acid (LPA) in extracellular fluids (PubMed:15769751, PubMed:26371182, PubMed:27754931). Major substrate is lysophosphatidylcholine (PubMed:12176993, PubMed:27754931). Also can act on sphingosylphosphorylcholine producing sphingosine-1-phosphate, a modulator of cell motility. Can hydrolyze, in vitro, bis-pNPP, to some extent pNP-TMP, and barely ATP (PubMed:15769751, PubMed:12176993). Involved in several motility-related processes such as angiogenesis and neurite outgrowth. Acts as an angiogenic factor by stimulating migration of smooth muscle cells and microtubule formation (PubMed:11559573). Stimulates migration of melanoma cells, probably via a pertussis toxin-sensitive G protein (PubMed:1733949). May have a role in induction of parturition (PubMed:12176993). Possible involvement in cell proliferation and adipose tissue development (Probable). Tumor cell motility-stimulating factor (PubMed:1733949, PubMed:11559573).',NULL,NULL,NULL,NULL,NULL),(821,'UniProt Function',NULL,980,NULL,'Promotes the growth of epithelial cells. May stimulate the phosphorylation of EGFR and mitogen-activated protein kinases.',NULL,NULL,NULL,NULL,NULL),(822,'UniProt Function',NULL,981,NULL,'May have a role in bone formation and also in establishing the ordered structure of cartilage through matrix organization.',NULL,NULL,NULL,NULL,NULL),(823,'UniProt Function',NULL,982,NULL,'Acrosomal membrane-anchored protein involved in the process of fertilization and in acrosome biogenesis.',NULL,NULL,NULL,NULL,NULL),(824,'UniProt Function',NULL,983,NULL,'Scaffold protein that serves as a bridging partner between the PRC2/EED-EZH2 complex and the elongin BC complex: required to fine-tune the transcriptional status of Polycomb group (PcG) target genes in embryonic stem cells (ESCs). Plays a key role in genomic regions that display both active and repressive chromatin properties in pluripotent stem cells by sustaining low level expression at PcG target genes: acts by recruiting the elongin BC complex, thereby restricting excessive activity of the PRC2/EED-EZH2 complex. Interaction with USP7 promotes deubiquitination of H2B at promoter sites. Acts as a regulator of neuronal differentiation.',NULL,NULL,NULL,NULL,NULL),(825,'UniProt Function',NULL,984,NULL,'Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase.',NULL,NULL,NULL,NULL,NULL),(826,'UniProt Function',NULL,984,NULL,'Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling.',NULL,NULL,NULL,NULL,NULL),(827,'UniProt Function',NULL,985,NULL,'Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3.',NULL,NULL,NULL,NULL,NULL),(828,'UniProt Function',NULL,986,NULL,'Small GTPase required for proper localization of RNA polymerase II (RNAPII). May act at an RNAP assembly step prior to nuclear import.',NULL,NULL,NULL,NULL,NULL),(829,'UniProt Function',NULL,987,NULL,'Could be a melanogenic enzyme.',NULL,NULL,NULL,NULL,NULL),(830,'UniProt Function',NULL,988,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.',NULL,NULL,NULL,NULL,NULL),(831,'UniProt Function',NULL,989,NULL,'Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits the phosphorylation and thus the inhibition of GSK3B at cell membrane. This prevents the phosphorylation of APC and CLASP2, allowing its association with the cell membrane. In turn, membrane-bound APC allows the localization of MACF1 to the cell membrane, which is required for microtubule capture and stabilization.',NULL,NULL,NULL,NULL,NULL),(832,'UniProt Function',NULL,989,NULL,'In the nucleus is involved in transcriptional regulation. Associates with the 5\'-TCAAATTC-3\' sequence in the PTGS2/COX-2 promoter and activates its transcription. Implicated in transcriptional activation of CDKN1A; the function involves STAT3 and SRC. Involved in the transcription of rRNA genes by RNA Pol I and enhances protein synthesis and cell growth.',NULL,NULL,NULL,NULL,NULL),(833,'UniProt Function',NULL,990,NULL,'Ligand of the EGF receptor/EGFR and ERBB4. Stimulates EGFR and ERBB4 tyrosine phosphorylation (PubMed:9419975). Contributes to inflammation, wound healing, tissue repair, and oocyte maturation by regulating angiogenesis and vascular remodeling and by stimulating cell proliferation (PubMed:24631357).',NULL,NULL,NULL,NULL,NULL),(834,'UniProt Function',NULL,991,NULL,'Directs the termination of nascent peptide synthesis (translation) in response to the termination codons UAA, UAG and UGA. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons.',NULL,NULL,NULL,NULL,NULL),(835,'UniProt Function',NULL,992,NULL,'Required for the retention of luminal endoplasmic reticulum resident proteins via vesicular recycling. This receptor recognizes the C-terminal K-D-E-L motif. COPI-coated transport intermediates, either in the form of round vesicles or as tubular processes, mediate retrograde traffic of the KDEL receptor-ligand complexes. Also required for normal vesicular traffic through the Golgi.',NULL,NULL,NULL,NULL,NULL),(836,'UniProt Function',NULL,993,NULL,'Involved in translation termination in response to the termination codons UAA, UAG and UGA. May play a role as a potent stimulator of the release factor activity of ETF1. Exhibits GTPase activity, which is ribosome- and ETF1-dependent. May play a role in cell cycle progression. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons.',NULL,NULL,NULL,NULL,NULL),(837,'UniProt Function',NULL,994,NULL,'Required for the retention of luminal endoplasmic reticulum proteins. Determines the specificity of the luminal ER protein retention system. Also required for normal vesicular traffic through the Golgi. This receptor recognizes K-D-E-L.',NULL,NULL,NULL,NULL,NULL),(838,'UniProt Function',NULL,996,NULL,'Converts sorbitol to fructose. Part of the polyol pathway that plays an important role in sperm physiology. May play a role in the sperm motility by providing an energetic source for sperm.',NULL,NULL,NULL,NULL,NULL),(839,'UniProt Function',NULL,997,NULL,'Transcription factor that plays a key role in male sex determination and differentiation by controlling testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor suppressor. May also play a minor role in oogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(840,'UniProt Function',NULL,998,NULL,'Transcriptional activator which activates the CDKN2A/ARF locus in response to Ras-Raf signaling, thereby promoting p53/TP53-dependent growth arrest (By similarity). Binds to the consensus sequence 5\'-CCCG[GT]ATGT-3\' (By similarity). Isoform 1 may cooperate with MYB to activate transcription of the ANPEP gene. Isoform 2 may antagonize transcriptional activation by isoform 1.',NULL,NULL,NULL,NULL,NULL),(841,'UniProt Function',NULL,999,NULL,'Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs.',NULL,NULL,NULL,NULL,NULL),(842,'UniProt Function',NULL,1000,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.',NULL,NULL,NULL,NULL,NULL),(843,'UniProt Function',NULL,1001,NULL,'Inactivates MAP kinases. Has a specificity for the ERK family (PubMed:9858808). Plays an important role in alleviating chronic postoperative pain. Necessary for the normal dephosphorylation of the long-lasting phosphorylated forms of spinal MAPK1/3 and MAP kinase p38 induced by peripheral surgery, which drives the resolution of acute postoperative allodynia (By similarity). Also important for dephosphorylation of MAPK1/3 in local wound tissue, which further contributes to resolution of acute pain (By similarity).',NULL,NULL,NULL,NULL,NULL),(844,'UniProt Function',NULL,1002,NULL,'Dual specificity protein phosphatase involved in the inactivation of MAP kinases. Dephosphorylates MAPK10 bound to ARRB2.',NULL,NULL,NULL,NULL,NULL),(845,'UniProt Function',NULL,1003,NULL,'Probably involved in maintaining Golgi structure.',NULL,NULL,NULL,NULL,NULL),(846,'UniProt Function',NULL,1004,NULL,'Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine.',NULL,NULL,NULL,NULL,NULL),(847,'UniProt Function',NULL,1005,NULL,'This enzyme is involved in nucleotide metabolism: it produces dUMP, the immediate precursor of thymidine nucleotides and it decreases the intracellular concentration of dUTP so that uracil cannot be incorporated into DNA.',NULL,NULL,NULL,NULL,NULL),(848,'UniProt Function',NULL,1006,NULL,'Probable transcription activator. Binds the P5 DNA element sequence 5\'-GATCTGAGTCTAATTGAGAATTACTGTAC-3\'.',NULL,NULL,NULL,NULL,NULL),(849,'UniProt Function',NULL,1007,NULL,'Converts big endothelin-1 to endothelin-1. May also have methyltransferase activity (By similarity). May play a role in amyloid-beta processing (By similarity).',NULL,NULL,NULL,NULL,NULL),(850,'UniProt Function',NULL,1009,NULL,'Acts as a negative growth regulator via p53-mediated apoptosis pathway. Regulates formation of degradative autolysosomes during autophagy (By similarity).',NULL,NULL,NULL,NULL,NULL),(851,'UniProt Function',NULL,1010,NULL,'Regulates vascular tubulogenesis in vivo. Inhibits platelet-derived growth factor (PDGF)-BB-induced smooth muscle cell migration and promotes endothelial cell adhesion to the extracellular matrix and angiogenesis.',NULL,NULL,NULL,NULL,NULL),(852,'UniProt Function',NULL,1011,NULL,'Translation initiation factor that is able to deliver tRNA to the P-site of the eukaryotic ribosome in a GTP-independent manner. The binding of Met-tRNA(I) occurs after the AUG codon finds its position in the P-site of 40S ribosomes, the situation that takes place during initiation complex formation on some specific RNAs. Its activity in tRNA binding with 40S subunits does not require the presence of the aminoacyl moiety. Possesses the unique ability to deliver non-Met (elongator) tRNAs into the P-site of the 40S subunit. In addition to its role in initiation, can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits.',NULL,NULL,NULL,NULL,NULL),(853,'UniProt Function',NULL,1012,NULL,'Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.',NULL,NULL,NULL,NULL,NULL),(854,'UniProt Function',NULL,1013,NULL,'Necessary for scanning and involved in initiation site selection. Promotes the assembly of 48S ribosomal complexes at the authentic initiation codon of a conventional capped mRNA.',NULL,NULL,NULL,NULL,NULL),(855,'UniProt Function',NULL,1014,NULL,'Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Elongation factor component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968, PubMed:23932780). Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription (PubMed:23932780). ELL also plays an early role before its assembly into in the SEC complex by stabilizing RNA polymerase II recruitment/initiation and entry into the pause site. Required to stabilize the pre-initiation complex and early elongation.',NULL,NULL,NULL,NULL,NULL),(856,'UniProt Function',NULL,1015,NULL,'May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK).',NULL,NULL,NULL,NULL,NULL),(857,'UniProt Function',NULL,1015,NULL,'Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration. Involved in neurogenesis (By similarity). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(858,'UniProt Function',NULL,1016,NULL,'Binds to AU-rich sequences (AREs) of target mRNAs, including VEGF mRNA. May also bind poly-A tracts via RRM 3 (By similarity). May be involved in neuronal differentiation and maintenance.',NULL,NULL,NULL,NULL,NULL),(859,'UniProt Function',NULL,1017,NULL,'Catalytic histone acetyltransferase subunit of the RNA polymerase II elongator complex, which is a component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in acetylation of alpha-tubulin (PubMed:19185337). May also have a methyltransferase activity. Involved in cell migration. Involved in neurogenesis. Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation.',NULL,NULL,NULL,NULL,NULL),(860,'UniProt Function',NULL,1018,NULL,'Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4.',NULL,NULL,NULL,NULL,NULL),(861,'UniProt Function',NULL,1019,NULL,'Canalicular ectonucleoside NTPDase responsible for the main hepatic NTPDase activity. Ectonucleoside NTPDases catalyze the hydrolysis of gamma- and beta-phosphate residues of nucleotides, playing a central role in concentration of extracellular nucleotides. Has activity toward ATP, ADP, UTP and UDP, but not toward AMP.',NULL,NULL,NULL,NULL,NULL),(862,'UniProt Function',NULL,1020,NULL,'Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it. Involved in somitogenesis during embryogenesis and somite development and differentiation into sclerotome and dermomyotome. Required for the initiation and/or maintenance of proper organization of the sclerotome, dermomyotome and myotome (By similarity).',NULL,NULL,NULL,NULL,NULL),(863,'UniProt Function',NULL,1021,NULL,'May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(864,'UniProt Function',NULL,1022,NULL,'Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency (By similarity). Component of the outer arm dynein (ODA). May be involved in a mechanosensory feedback mechanism controlling ODA activity based on external conformational cues by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme (By similarity). Important for ciliary function in the airways and for the function of the cilia that produce the nodal flow essential for the determination of the left-right asymmetry (PubMed:21496787).',NULL,NULL,NULL,NULL,NULL),(865,'UniProt Function',NULL,1023,NULL,'Serum endocuclease secreted into body fluids by a wide variety of exocrine and endocrine organs (PubMed:2251263, PubMed:11241278, PubMed:2277032). Expressed by non-hematopoietic tissues and preferentially cleaves protein-free DNA (By similarity). Among other functions, seems to be involved in cell death by apoptosis (PubMed:11241278). Binds specifically to G-actin and blocks actin polymerization (By similarity). Together with DNASE1L3, plays a key role in degrading neutrophil extracellular traps (NETs) (By similarity). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By similarity). Degradation of intravascular NETs by DNASE1 and DNASE1L3 is required to prevent formation of clots that obstruct blood vessels and cause organ damage following inflammation (By similarity).',NULL,NULL,NULL,NULL,NULL),(866,'UniProt Function',NULL,1024,NULL,'DNA polymerase with very low fidelity that catalyzes considerable misincorporation by inserting dTTP opposite a G template, and dGTP opposite a T template (PubMed:16787914, PubMed:17118716). Is the least accurate of the DNA polymerase A family (i.e. POLG, POLN and POLQ) (PubMed:17118716). Can perform accurate translesion DNA synthesis (TLS) past a 5S-thymine glycol. Can perform efficient strand displacement past a nick or a gap and gives rise to an amount of product similar to that on non-damaged template. Has no exonuclease activity (PubMed:16787914). Error-prone DNA polymerase that preferentially misincorporates dT regardless of template sequence (PubMed:25775266). May play a role in TLS during interstrand cross-link (ICL) repair (PubMed:19908865). May be involved in TLS when genomic replication is blocked by extremely large major groove DNA lesions. May function in the bypass of some DNA-protein and DNA-DNA cross-links. May have a role in cellular tolerance to DNA cross-linking agents (PubMed:20102227). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with HELQ helicase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904).',NULL,NULL,NULL,NULL,NULL),(867,'UniProt Function',NULL,1025,NULL,'DNA polymerase that promotes microhomology-mediated end-joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery triggered in response to double-strand breaks in DNA (PubMed:25642963, PubMed:25643323). MMEJ is an error-prone repair pathway that produces deletions of sequences from the strand being repaired and promotes genomic rearrangements, such as telomere fusions, some of them leading to cellular transformation (PubMed:25642963, PubMed:25643323). POLQ acts as an inhibitor of homology-recombination repair (HR) pathway by limiting RAD51 accumulation at resected ends (PubMed:25642963). POLQ-mediated MMEJ may be required to promote the survival of cells with a compromised HR repair pathway, thereby preventing genomic havoc by resolving unrepaired lesions (By similarity). The polymerase acts by binding directly the 2 ends of resected double-strand breaks, allowing microhomologous sequences in the overhangs to form base pairs. It then extends each strand from the base-paired region using the opposing overhang as a template. Requires partially resected DNA containing 2 to 6 base pairs of microhomology to perform MMEJ (PubMed:25643323). The polymerase activity is highly promiscuous: unlike most polymerases, promotes extension of ssDNA and partial ssDNA (pssDNA) substrates (PubMed:18503084, PubMed:21050863, PubMed:22135286). Also exhibits low-fidelity DNA synthesis, translesion synthesis and lyase activity, and it is implicated in interstrand-cross-link repair, base excision repair and DNA end-joining (PubMed:14576298, PubMed:18503084, PubMed:19188258, PubMed:24648516). Involved in somatic hypermutation of immunoglobulin genes, a process that requires the activity of DNA polymerases to ultimately introduce mutations at both A/T and C/G base pairs (By similarity).',NULL,NULL,NULL,NULL,NULL),(868,'UniProt Function',NULL,1026,NULL,'Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.',NULL,NULL,NULL,NULL,NULL),(869,'UniProt Function',NULL,1027,NULL,'Repair polymerase that plays a key role in base-excision repair. Has 5\'-deoxyribose-5-phosphate lyase (dRP lyase) activity that removes the 5\' sugar phosphate and also acts as a DNA polymerase that adds one nucleotide to the 3\' end of the arising single-nucleotide gap. Conducts \'gap-filling\' DNA synthesis in a stepwise distributive fashion rather than in a processive fashion as for other DNA polymerases.',NULL,NULL,NULL,NULL,NULL),(870,'UniProt Function',NULL,1029,NULL,'Cell adhesion molecule that plays a role in neuronal self-avoidance (PubMed:11453658). Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Promotes both isoneuronal self-avoidance for creating an orderly neurite arborization in retinal rod bipolar cells and heteroneuronal self-avoidance to maintain mosaic spacing between AII amacrine cells (By similarity). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity).',NULL,NULL,NULL,NULL,NULL),(871,'UniProt Function',NULL,1031,NULL,'Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).',NULL,NULL,NULL,NULL,NULL),(872,'UniProt Function',NULL,1033,NULL,'Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.',NULL,NULL,NULL,NULL,NULL),(873,'UniProt Function',NULL,1034,NULL,'Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control, DNA damage response and translesion DNA synthesis. The DCX(DTL) complex, also named CRL4(CDT2) complex, mediates the polyubiquitination and subsequent degradation of CDT1, CDKN1A/p21(CIP1), FBH1, KMT5A and SDE2 (PubMed:16861906, PubMed:16949367, PubMed:16964240, PubMed:17085480, PubMed:18703516, PubMed:18794347, PubMed:18794348, PubMed:19332548, PubMed:20129063, PubMed:23478441, PubMed:23478445, PubMed:23677613, PubMed:27906959). CDT1 degradation in response to DNA damage is necessary to ensure proper cell cycle regulation of DNA replication (PubMed:16861906, PubMed:16949367, PubMed:17085480). CDKN1A/p21(CIP1) degradation during S phase or following UV irradiation is essential to control replication licensing (PubMed:18794348, PubMed:19332548). KMT5A degradation is also important for a proper regulation of mechanisms such as TGF-beta signaling, cell cycle progression, DNA repair and cell migration (PubMed:23478445). Most substrates require their interaction with PCNA for their polyubiquitination: substrates interact with PCNA via their PIP-box, and those containing the \'K+4\' motif in the PIP box, recruit the DCX(DTL) complex, leading to their degradation. In undamaged proliferating cells, the DCX(DTL) complex also promotes the \'Lys-164\' monoubiquitination of PCNA, thereby being involved in PCNA-dependent translesion DNA synthesis (PubMed:20129063, PubMed:23478441, PubMed:23478445, PubMed:23677613).',NULL,NULL,NULL,NULL,NULL),(874,'UniProt Function',NULL,1035,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.',NULL,NULL,NULL,NULL,NULL),(875,'UniProt Function',NULL,1036,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.',NULL,NULL,NULL,NULL,NULL),(876,'UniProt Function',NULL,1037,NULL,'Ubiquitin-like modifier that increases cell-surface expression of kappa-type opioid receptor through facilitating anterograde intracellular trafficking of the receptor. Involved in formation of autophagosomal vacuoles. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation.',NULL,NULL,NULL,NULL,NULL),(877,'UniProt Function',NULL,1039,NULL,'Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.',NULL,NULL,NULL,NULL,NULL),(878,'UniProt Function',NULL,1040,NULL,'Secreted signal that acts globally to specify positional identity along the anterior/posterior axis during development. May play critical roles in patterning both mesodermal and neural tissues and in establishing the skeletal pattern (By similarity). Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3 (PubMed:28257634).',NULL,NULL,NULL,NULL,NULL),(879,'UniProt Function',NULL,1041,NULL,'Catalyzes the trimethylation of eukaryotic elongation factor 2 (EEF2) on \'Lys-525\'.',NULL,NULL,NULL,NULL,NULL),(880,'UniProt Function',NULL,1042,NULL,'Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG.',NULL,NULL,NULL,NULL,NULL),(881,'UniProt Function',NULL,1046,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.',NULL,NULL,NULL,NULL,NULL),(882,'UniProt Function',NULL,1046,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(883,'UniProt Function',NULL,1046,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(884,'UniProt Function',NULL,1047,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.',NULL,NULL,NULL,NULL,NULL),(885,'UniProt Function',NULL,1049,NULL,'Isoform 1, isoform 2 and isoform 3 lack catalytic activity due to its inability to undergo the autocatalytic cleavage needed to produce a mature, enzymatically active heterodimer.',NULL,NULL,NULL,NULL,NULL),(886,'UniProt Function',NULL,1050,NULL,'Cleaves the gamma-glutamyl peptide bond of glutathione conjugates, but maybe not glutathione itself. Converts leukotriene C4 (LTC4) to leukotriene D4 (LTD4).',NULL,NULL,NULL,NULL,NULL),(887,'UniProt Function',NULL,1051,NULL,'Cleaves glutathione conjugates.',NULL,NULL,NULL,NULL,NULL),(888,'UniProt Function',NULL,1052,NULL,'Cleaves glutathione conjugates.',NULL,NULL,NULL,NULL,NULL),(889,'UniProt Function',NULL,1053,NULL,'Promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Plays also a role in the regulation of autophagy and innate immunity. Recruits ATG5-ATG12 and NLRX1 at mitochondria and serves as a checkpoint of the RIG-I/DDX58-MAVS pathway. In turn, inhibits RLR-mediated type I interferon while promoting autophagy.',NULL,NULL,NULL,NULL,NULL),(890,'UniProt Function',NULL,1054,NULL,'Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.',NULL,NULL,NULL,NULL,NULL),(891,'UniProt Function',NULL,1055,NULL,'Interacts with RB1 and EP300 and acts as a repressor of MYOD1 transactivation. Inhibits EP300 and CBP histone acetyltransferase activity. May be involved in coupling cell cycle exit to the transcriptional activation of genes required for cellular differentiation. May act as a candidate coinhibitory factor for NR0B2 that can be directly linked to transcription inhibitory mechanisms.',NULL,NULL,NULL,NULL,NULL),(892,'UniProt Function',NULL,1056,NULL,'Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968). Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression.',NULL,NULL,NULL,NULL,NULL),(893,'UniProt Function',NULL,1057,NULL,'Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration (By similarity). May be involved in TP53-mediated transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(894,'UniProt Function',NULL,1058,NULL,'Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis.',NULL,NULL,NULL,NULL,NULL),(895,'UniProt Function',NULL,1059,NULL,'Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration.',NULL,NULL,NULL,NULL,NULL),(896,'UniProt Function',NULL,1060,NULL,'Dihydrouridine synthase. Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs. Negatively regulates the activation of EIF2AK2/PKR.',NULL,NULL,NULL,NULL,NULL),(897,'UniProt Function',NULL,1061,NULL,'Dual specificity protein phosphatase (PubMed:9788880). Shows high activity towards MAPK1/ERK2 (PubMed:9788880). Also has lower activity towards MAPK14 and MAPK8 (PubMed:9788880). In arrested oocytes, plays a role in meiotic resumption (By similarity). Promotes nuclear envelope breakdown and activation of the CDK1/Cyclin-B complex in oocytes, probably by dephosphorylating and inactivating the conventional protein kinase C (cPKC) isozyme PRKCB (By similarity). May also inactivate PRKCA and/or PRKCG (By similarity). Also important in oocytes for normal chromosome alignment on the metaphase plate and progression to anaphase, where it might regulate activity of the spindle-assembly checkpoint (SAC) complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(898,'UniProt Function',NULL,1062,NULL,'Shows activity both for tyrosine-protein phosphate and serine-protein phosphate, but displays a strong preference toward phosphotyrosines. Specifically dephosphorylates and inactivates ERK1 and ERK2.',NULL,NULL,NULL,NULL,NULL),(899,'UniProt Function',NULL,1063,NULL,'Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive.',NULL,NULL,NULL,NULL,NULL),(900,'UniProt Function',NULL,1064,NULL,'Activates the Jnk signaling pathway. Dephosphorylates and deactivates p38 and stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK) (By similarity).',NULL,NULL,NULL,NULL,NULL),(901,'UniProt Function',NULL,1065,NULL,'Factor that represses transcription. It binds to the GC-rich sequences (5\'-GCGGGGC-3\') present in the epidermal growth factor receptor, beta-actin, and calcium-dependent protease promoters. Involved in pre-mRNA splicing through regulating spliceosome C complex formation. May play a role during late-stage splicing events and turnover of excised inrons.',NULL,NULL,NULL,NULL,NULL),(902,'UniProt Function',NULL,1066,NULL,'May bind integrin alpha-8/beta-1 and play a role in hair follicle morphogenesis. Promotes matrix assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(903,'UniProt Function',NULL,1067,NULL,'mRNA cap-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, a complex required for several steps in the initiation of protein synthesis of a specialized repertoire of mRNAs (PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:18599441, PubMed:25849773). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). In the eIF-3 complex, EIF3D specifically recognizes and binds the 7-methylguanosine cap of a subset of mRNAs (PubMed:27462815).',NULL,NULL,NULL,NULL,NULL),(904,'UniProt Function',NULL,1067,NULL,'(Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426).',NULL,NULL,NULL,NULL,NULL),(905,'UniProt Function',NULL,1068,NULL,'Histone methyltransferase that specifically mono- and dimethylates \'Lys-9\' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also mediates monomethylation of \'Lys-56\' of histone H3 (H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA replication. Also weakly methylates \'Lys-27\' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. May also methylate histone H1. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of \'Lys-373\' of p53/TP53. Also methylates CDYL, WIZ, ACIN1, DNMT1, HDAC1, ERCC6, KLF12 and itself.',NULL,NULL,NULL,NULL,NULL),(906,'UniProt Function',NULL,1069,NULL,'Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:8370410, PubMed:21737454, PubMed:22347366, PubMed:23300529). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529).',NULL,NULL,NULL,NULL,NULL),(907,'UniProt Function',NULL,1070,NULL,'Substrate-recognition subunit of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (Probable) (PubMed:29911972). Binds proteins and peptides with a Pro/N-degron consisting of an unmodified N-terminal Pro followed by a small residue, and has the highest affinity for the peptide Pro-Gly-Leu-Trp (PubMed:29632410). Binds peptides with an N-terminal sequence of the type Pro-[Ala,Gly]-[Leu,Met,Gln,Ser,Tyr]-[Glu,Gly,His,Ser,Val,Trp,Tyr]. Does not bind peptides with an acetylated N-terminal Pro residue (PubMed:29632410).',NULL,NULL,NULL,NULL,NULL),(908,'UniProt Function',NULL,1071,NULL,'RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). This subunit can bind 18S rRNA.',NULL,NULL,NULL,NULL,NULL),(909,'UniProt Function',NULL,1071,NULL,'(Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426).',NULL,NULL,NULL,NULL,NULL),(910,'UniProt Function',NULL,1072,NULL,'Enhancer-binding elongation factor that specifically binds enhancers in embryonic stem cells (ES cells), marks them, and is required for their future activation during stem cell specification. Does not only bind to enhancer regions of active genes, but also marks the enhancers that are in a poised or inactive state in ES cells and is required for establishing proper RNA polymerase II occupancy at developmentally regulated genes in a cohesin-dependent manner. Probably required for priming developmentally regulated genes for later recruitment of the super elongation complex (SEC), for transcriptional activation during differentiation. Required for recruitment of P-TEFb within SEC during differentiation. Probably preloaded on germ cell chromatin, suggesting that it may prime gene activation by marking enhancers as early as in the germ cells. Promoting epithelial-mesenchymal transition (EMT) (By similarity). Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968).',NULL,NULL,NULL,NULL,NULL),(911,'UniProt Function',NULL,1073,NULL,'Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).',NULL,NULL,NULL,NULL,NULL),(912,'UniProt Function',NULL,1074,NULL,'SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex).',NULL,NULL,NULL,NULL,NULL),(913,'UniProt Function',NULL,1075,NULL,'Highly specific for ethanolamine phosphorylation. Does not have choline kinase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(914,'UniProt Function',NULL,1076,NULL,'Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family. Regulates IFN-related antiviral responses.',NULL,NULL,NULL,NULL,NULL),(915,'UniProt Function',NULL,1077,NULL,'Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1.',NULL,NULL,NULL,NULL,NULL),(916,'UniProt Function',NULL,1078,NULL,'RNA-binding protein that binds to the 3\'-UTR region of mRNAs and increases their stability (PubMed:14517288, PubMed:18285462). Involved in embryonic stem cells (ESCs) differentiation: preferentially binds mRNAs that are not methylated by N6-methyladenosine (m6A), stabilizing them, promoting ESCs differentiation (By similarity). Binds to poly-U elements and AU-rich elements (AREs) in the 3\'-UTR of target mRNAs (PubMed:8626503, PubMed:17632515, PubMed:18285462, PubMed:23519412, PubMed:14731398). Binds avidly to the AU-rich element in FOS and IL3/interleukin-3 mRNAs. In the case of the FOS AU-rich element, binds to a core element of 27 nucleotides that contain AUUUA, AUUUUA, and AUUUUUA motifs. Binds preferentially to the 5\'-UUUU[AG]UUU-3\' motif in vitro (PubMed:8626503). With ZNF385A, binds the 3\'-UTR of p53/TP53 mRNA to control their nuclear export induced by CDKN2A. Hence, may regulate p53/TP53 expression and mediate in part the CDKN2A anti-proliferative activity. May also bind with ZNF385A the CCNB1 mRNA (By similarity). Increases the stability of the leptin mRNA harboring an AU-rich element (ARE) in its 3\' UTR (PubMed:29180010).',NULL,NULL,NULL,NULL,NULL),(917,'UniProt Function',NULL,1079,NULL,'Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis.',NULL,NULL,NULL,NULL,NULL),(918,'UniProt Function',NULL,1080,NULL,'Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that specifically elongates C24:0 and C26:0 acyl-CoAs. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development.',NULL,NULL,NULL,NULL,NULL),(919,'UniProt Function',NULL,1081,NULL,'Hydrolyzes preferentially nucleoside 5\'-diphosphates, nucleoside 5\'-triphosphates are hydrolyzed only to a minor extent. The order of activity with different substrates is UDP >> GDP = CDP = TDP, AMP, ADP, ATP and UMP are not substrates. Preferred substrates for isoform 2 are CTP, UDP, CDP, GTP and GDP, while isoform 1 utilizes UTP and TTP.',NULL,NULL,NULL,NULL,NULL),(920,'UniProt Function',NULL,1082,NULL,'Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage.',NULL,NULL,NULL,NULL,NULL),(921,'UniProt Function',NULL,1083,NULL,'May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(922,'UniProt Function',NULL,1084,NULL,'Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.',NULL,NULL,NULL,NULL,NULL),(923,'UniProt Function',NULL,1085,NULL,'Part of the dynein complex of respiratory cilia.',NULL,NULL,NULL,NULL,NULL),(924,'UniProt Function',NULL,1086,NULL,'Acts as a regulator of the Hippo signaling pathway (PubMed:28087714, PubMed:28169360). Negatively regulates the Hippo signaling pathway by mediating the interaction of MARK3 with STK3/4, bringing them together to promote MARK3-dependent hyperphosphorylation and inactivation of STK3 kinase activity toward LATS1 (PubMed:28087714). Positively regulates the Hippo signaling pathway by mediating the interaction of SCRIB with STK4/MST1 and LATS1 which is important for the activation of the Hippo signaling pathway. Involved in regulating cell proliferation, maintenance of epithelial polarity, epithelial-mesenchymal transition (EMT), cell migration and invasion (PubMed:28169360). Plays an important role in dendritic spine formation and synaptogenesis in cortical neurons; regulates synaptogenesis by enhancing the cell surface localization of N-cadherin. Acts as a positive regulator of hedgehog (Hh) signaling pathway. Plays a critical role in the early point of the SMO activity cycle by interacting with SMO at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity).',NULL,NULL,NULL,NULL,NULL),(925,'UniProt Function',NULL,1087,NULL,'Glycosyltransferase that catalyzes the transfer of an N-acetylglucosamine moiety onto mucin-type core 1 O-glycan to form the branched mucin-type core 2 O-glycan. Mucin-type core 2 O-glycans play an important role in leukocyte extravasation as they serve as scaffolds for the display of the selectin ligand sialyl Lewis X by leukocytes.',NULL,NULL,NULL,NULL,NULL),(926,'UniProt Function',NULL,1088,NULL,'Glycosyltransferase that can synthesize all known mucin beta 6 N-acetylglucosaminides. Mediates core 2 and core 4 O-glycan branching, 2 important steps in mucin-type biosynthesis. Has also I-branching enzyme activity by converting linear into branched poly-N-acetyllactosaminoglycans, leading to introduce the blood group I antigen during embryonic development.',NULL,NULL,NULL,NULL,NULL),(927,'UniProt Function',NULL,1089,NULL,'Glycosyltransferase.',NULL,NULL,NULL,NULL,NULL),(928,'UniProt Function',NULL,1090,NULL,'Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.',NULL,NULL,NULL,NULL,NULL),(929,'UniProt Function',NULL,1091,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity).',NULL,NULL,NULL,NULL,NULL),(930,'UniProt Function',NULL,1092,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(931,'UniProt Function',NULL,1093,NULL,'Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.',NULL,NULL,NULL,NULL,NULL),(932,'UniProt Function',NULL,1094,NULL,'Plays a crucial role during acrosome biogenesis.',NULL,NULL,NULL,NULL,NULL),(933,'UniProt Function',NULL,1096,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(934,'UniProt Function',NULL,1097,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(935,'UniProt Function',NULL,1098,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(936,'UniProt Function',NULL,1099,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(937,'UniProt Function',NULL,1100,NULL,'Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in changing or maintaining the spatial distribution of cytoskeletal structures.',NULL,NULL,NULL,NULL,NULL),(938,'UniProt Function',NULL,1100,NULL,'Binds and inhibits the catalytic activity of neuronal nitric oxide synthase.',NULL,NULL,NULL,NULL,NULL),(939,'UniProt Function',NULL,1100,NULL,'Promotes transactivation functions of ESR1 and plays a role in the nuclear localization of ESR1.',NULL,NULL,NULL,NULL,NULL),(940,'UniProt Function',NULL,1100,NULL,'Regulates apoptotic activities of BCL2L11 by sequestering it to microtubules. Upon apoptotic stimuli the BCL2L11-DYNLL1 complex dissociates from cytoplasmic dynein and translocates to mitochondria and sequesters BCL2 thus neutralizing its antiapoptotic activity.',NULL,NULL,NULL,NULL,NULL),(941,'UniProt Function',NULL,1101,NULL,'Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Probably binds BUB3 as part of transport cargo. Required for the efficient progression through mitosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(942,'UniProt Function',NULL,1102,NULL,'Necessary for correct organization of Golgi apparatus. Involved in bone development.',NULL,NULL,NULL,NULL,NULL),(943,'UniProt Function',NULL,1103,NULL,'Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Plays an important role in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis (PubMed:12498685). Regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(944,'UniProt Function',NULL,1104,NULL,'Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. Enhances the transcriptional activity of TCF1/HNF1A and FOXO1. Inhibits epithelial cell migration. Mediates colon carcinoma cell survival in mitogen-poor environments. Inhibits the SHH and WNT1 pathways, thereby enhancing adipogenesis. In addition, promotes expression of the gluconeogenic enzyme glucose-6-phosphatase (G6PC).',NULL,NULL,NULL,NULL,NULL),(945,'UniProt Function',NULL,1105,NULL,'Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(946,'UniProt Function',NULL,1106,NULL,'Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Required to prevent uracil accumulation in mtDNA. Binds its own mRNA and that of DHFR.',NULL,NULL,NULL,NULL,NULL),(947,'UniProt Function',NULL,1107,NULL,'Serine/threonine-protein kinase involved in the regulation of the mitotic cell cycle, cell proliferation, apoptosis, organization of the cytoskeleton and neurite outgrowth. Functions in part via its role in ubiquitin-dependent proteasomal protein degradation. Functions downstream of ATM and phosphorylates p53/TP53 at \'Ser-46\', and thereby contributes to the induction of apoptosis in response to DNA damage. Phosphorylates NFATC1, and thereby inhibits its accumulation in the nucleus and its transcription factor activity. Phosphorylates EIF2B5 at \'Ser-544\', enabling its subsequent phosphorylation and inhibition by GSK3B. Likewise, phosphorylation of NFATC1, CRMP2/DPYSL2 and CRMP4/DPYSL3 promotes their subsequent phosphorylation by GSK3B. May play a general role in the priming of GSK3 substrates. Inactivates GYS1 by phosphorylation at \'Ser-641\', and potentially also a second phosphorylation site, thus regulating glycogen synthesis. Mediates EDVP E3 ligase complex formation and is required for the phosphorylation and subsequent degradation of KATNA1. Phosphorylates TERT at \'Ser-457\', promoting TERT ubiquitination by the EDVP complex. Phosphorylates SIAH2, and thereby increases its ubiquitin ligase activity. Promotes the proteasomal degradation of MYC and JUN, and thereby regulates progress through the mitotic cell cycle and cell proliferation. Promotes proteasomal degradation of GLI2 and GLI3, and thereby plays a role in smoothened and sonic hedgehog signaling. Plays a role in cytoskeleton organization and neurite outgrowth via its phosphorylation of DCX and DPYSL2. Phosphorylates CRMP2/DPYSL2, CRMP4/DPYSL3, DCX, EIF2B5, EIF4EBP1, GLI2, GLI3, GYS1, JUN, MDM2, MYC, NFATC1, p53/TP53, TAU/MAPT and KATNA1. Can phosphorylate histone H1, histone H3 and histone H2B (in vitro). Can phosphorylate CARHSP1 (in vitro).',NULL,NULL,NULL,NULL,NULL),(948,'UniProt Function',NULL,1108,NULL,'Dual-specificity protein kinase that promotes disassembly of several types of membraneless organelles during mitosis, such as stress granules, nuclear speckles and pericentriolar material (PubMed:29973724). Dual-specificity tyrosine-regulated kinases (DYRKs) autophosphorylate a critical tyrosine residue in their activation loop and phosphorylate their substrate on serine and threonine residues (PubMed:9748265, PubMed:29634919). Acts as a central dissolvase of membraneless organelles during the G2-to-M transition, after the nuclear-envelope breakdown: acts by mediating phosphorylation of multiple serine and threonine residues in unstructured domains of proteins, such as SRRM1 and PCM1 (PubMed:29973724). Does not mediate disassembly of all membraneless organelles: disassembly of P-body and nucleolus is not regulated by DYRK3 (PubMed:29973724). Dissolution of membraneless organelles at the onset of mitosis is also required to release mitotic regulators, such as ZNF207, from liquid-unmixed organelles where they are sequestered and keep them dissolved during mitosis (PubMed:29973724). Regulates mTORC1 by mediating the dissolution of stress granules: during stressful conditions, DYRK3 partitions from the cytosol to the stress granule, together with mTORC1 components, which prevents mTORC1 signaling (PubMed:23415227). When stress signals are gone, the kinase activity of DYRK3 is required for the dissolution of stress granule and mTORC1 relocation to the cytosol: acts by mediating the phosphorylation of the mTORC1 inhibitor AKT1S1, allowing full reactivation of mTORC1 signaling (PubMed:23415227). Also acts as a negative regulator of EPO-dependent erythropoiesis: may place an upper limit on red cell production during stress erythropoiesis (PubMed:10779429). Inhibits cell death due to cytokine withdrawal in hematopoietic progenitor cells (PubMed:10779429). Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1: this in turn inhibits p53/TP53 activity and apoptosis (PubMed:20167603).',NULL,NULL,NULL,NULL,NULL),(949,'UniProt Function',NULL,1109,NULL,'Possible non-essential role in spermiogenesis.',NULL,NULL,NULL,NULL,NULL),(950,'UniProt Function',NULL,1111,NULL,'Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:28530676).',NULL,NULL,NULL,NULL,NULL),(951,'UniProt Function',NULL,1112,NULL,'Involved in the negative regulation of lymphocyte motility. It mediates the migration-inhibitory effects of IL6. Serves as a positive regulator of the RhoA signaling pathway. Enhancement of RhoA activation results in inhibition of lymphocyte and lymphoma cell motility by activation of its downstream effector ROCK. Is a regulator of B-cell receptor signaling, that acts through SYK kinase activation.',NULL,NULL,NULL,NULL,NULL),(952,'UniProt Function',NULL,1113,NULL,'Inhibits protein synthesis at the translation initiation level, in response to various stress conditions, including oxidative stress, heme deficiency, osmotic shock and heat shock. Exerts its function through the phosphorylation of EIF2S1 at \'Ser-48\' and \'Ser-51\', thus preventing its recycling. Binds hemin forming a 1:1 complex through a cysteine thiolate and histidine nitrogenous coordination. This binding occurs with moderate affinity, allowing it to sense the heme concentration within the cell. Thanks to this unique heme-sensing capacity, plays a crucial role to shut off protein synthesis during acute heme-deficient conditions. In red blood cells (RBCs), controls hemoglobin synthesis ensuring a coordinated regulation of the synthesis of its heme and globin moieties. Thus plays an essential protective role for RBC survival in anemias of iron deficiency. Similarly, in hepatocytes, involved in heme-mediated translational control of CYP2B and CYP3A and possibly other hepatic P450 cytochromes. May also contain ER stress during acute heme-deficient conditions (By similarity).',NULL,NULL,NULL,NULL,NULL),(953,'UniProt Function',NULL,1114,NULL,'IFN-induced dsRNA-dependent serine/threonine-protein kinase which plays a key role in the innate immune response to viral infection and is also involved in the regulation of signal transduction, apoptosis, cell proliferation and differentiation. Exerts its antiviral activity on a wide range of DNA and RNA viruses including hepatitis C virus (HCV), hepatitis B virus (HBV), measles virus (MV) and herpes simplex virus 1 (HHV-1). Inhibits viral replication via phosphorylation of the alpha subunit of eukaryotic initiation factor 2 (EIF2S1), this phosphorylation impairs the recycling of EIF2S1 between successive rounds of initiation leading to inhibition of translation which eventually results in shutdown of cellular and viral protein synthesis. Also phosphorylates other substrates including p53/TP53, PPP2R5A, DHX9, ILF3, IRS1 and the HHV-1 viral protein US11. In addition to serine/threonine-protein kinase activity, also has tyrosine-protein kinase activity and phosphorylates CDK1 at \'Tyr-4\' upon DNA damage, facilitating its ubiquitination and proteosomal degradation. Either as an adapter protein and/or via its kinase activity, can regulate various signaling pathways (p38 MAP kinase, NF-kappa-B and insulin signaling pathways) and transcription factors (JUN, STAT1, STAT3, IRF1, ATF3) involved in the expression of genes encoding proinflammatory cytokines and IFNs. Activates the NF-kappa-B pathway via interaction with IKBKB and TRAF family of proteins and activates the p38 MAP kinase pathway via interaction with MAP2K6. Can act as both a positive and negative regulator of the insulin signaling pathway (ISP). Negatively regulates ISP by inducing the inhibitory phosphorylation of insulin receptor substrate 1 (IRS1) at \'Ser-312\' and positively regulates ISP via phosphorylation of PPP2R5A which activates FOXO1, which in turn up-regulates the expression of insulin receptor substrate 2 (IRS2). Can regulate NLRP3 inflammasome assembly and the activation of NLRP3, NLRP1, AIM2 and NLRC4 inflammasomes. Can trigger apoptosis via FADD-mediated activation of CASP8. Plays a role in the regulation of the cytoskeleton by binding to gelsolin (GSN), sequestering the protein in an inactive conformation away from actin.',NULL,NULL,NULL,NULL,NULL),(954,'UniProt Function',NULL,1115,NULL,'Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5\'-TTTC[CG]CGC-3\' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F4 binds with high affinity to RBL1 and RBL2. In some instances can also bind RB1. Specifically required for multiciliate cell differentiation: together with MCIDAS and E2F5, binds and activate genes required for centriole biogenesis.',NULL,NULL,NULL,NULL,NULL),(955,'UniProt Function',NULL,1116,NULL,'Transcriptional activator that binds to E2F sites, these sites are present in the promoter of many genes whose products are involved in cell proliferation. May mediate growth factor-initiated signal transduction. It is likely involved in the early responses of resting cells to growth factor stimulation. Specifically required for multiciliate cell differentiation: together with MCIDAS and E2F5, binds and activate genes required for centriole biogenesis.',NULL,NULL,NULL,NULL,NULL),(956,'UniProt Function',NULL,1117,NULL,'Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on \'Ser-52\' during the unfolded protein response (UPR) and in response to low amino acid availability. Converts phosphorylated eIF-2-alpha/EIF2S1 either in a global protein synthesis inhibitor, leading to a reduced overall utilization of amino acids, or to a translation initiation activator of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion. Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1). Involved in control of mitochondrial morphology and function.',NULL,NULL,NULL,NULL,NULL),(957,'UniProt Function',NULL,1118,NULL,'Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on \'Ser-52\' in response to low amino acid availability (PubMed:25329545). Plays a role as an activator of the integrated stress response (ISR) required for adapatation to amino acid starvation. Converts phosphorylated eIF-2-alpha/EIF2S1 either to a competitive inhibitor of the translation initiation factor eIF-2B, leading to a global protein synthesis repression, and thus to a reduced overall utilization of amino acids, or to a translational initiation activation of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion. Binds uncharged tRNAs (By similarity). Involved in cell cycle arrest by promoting cyclin D1 mRNA translation repression after the unfolded protein response pathway (UPR) activation or cell cycle inhibitor CDKN1A/p21 mRNA translation activation in response to amino acid deprivation (PubMed:26102367). Plays a role in the consolidation of synaptic plasticity, learning as well as formation of long-term memory. Plays a role in neurite outgrowth inhibition. Plays a proapoptotic role in response to glucose deprivation. Promotes global cellular protein synthesis repression in response to UV irradiation independently of the stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK) and p38 MAPK signaling pathways (By similarity). Plays a role in the antiviral response against alphavirus infection; impairs early viral mRNA translation of the incoming genomic virus RNA, thus preventing alphavirus replication (By similarity).',NULL,NULL,NULL,NULL,NULL),(958,'UniProt Function',NULL,1118,NULL,'(Microbial infection) Plays a role in modulating the adaptive immune response to yellow fever virus infection; promotes dendritic cells to initiate autophagy and antigene presentation to both CD4(+) and CD8(+) T-cells under amino acid starvation (PubMed:24310610).',NULL,NULL,NULL,NULL,NULL),(959,'UniProt Function',NULL,1119,NULL,'Atypical E2F transcription factor that participates in various processes such as angiogenesis and polyploidization of specialized cells. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5\'-TTTC[CG]CGC-3\'. Directly represses transcription of classical E2F transcription factors such as E2F1: component of a feedback loop in S phase by repressing the expression of E2F1, thereby preventing p53/TP53-dependent apoptosis. Plays a key role in polyploidization of cells in placenta and liver by regulating the endocycle, probably by repressing genes promoting cytokinesis and antagonizing action of classical E2F proteins (E2F1, E2F2 and/or E2F3). Required for placental development by promoting polyploidization of trophoblast giant cells. Acts as a promoter of sprouting angiogenesis, possibly by acting as a transcription activator: associates with HIF1A, recognizes and binds the VEGFA promoter, which is different from canonical E2 recognition site, and activates expression of the VEGFA gene.',NULL,NULL,NULL,NULL,NULL),(960,'UniProt Function',NULL,1120,NULL,'The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST).',NULL,NULL,NULL,NULL,NULL),(961,'UniProt Function',NULL,1121,NULL,'May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases.',NULL,NULL,NULL,NULL,NULL),(962,'UniProt Function',NULL,1122,NULL,'May contribute to the correct positioning of tight junctions during the establishment of polarity in epithelial cells.',NULL,NULL,NULL,NULL,NULL),(963,'UniProt Function',NULL,1123,NULL,'Acts as a transcriptional transactivator of ELL and ELL2 elongation activities.',NULL,NULL,NULL,NULL,NULL),(964,'UniProt Function',NULL,1124,NULL,'Acts as a transcriptional transactivator of TCEA1 elongation activity (By similarity). Acts as a transcriptional transactivator of ELL and ELL2 elongation activities. Potent inducer of apoptosis in prostatic and non-prostatic cell lines. Inhibits prostate tumor growth in vivo.',NULL,NULL,NULL,NULL,NULL),(965,'UniProt Function',NULL,1125,NULL,'May act as an RNA-binding protein. Highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes (By similarity).',NULL,NULL,NULL,NULL,NULL),(966,'UniProt Function',NULL,1126,NULL,'Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Firstly, positively regulates differentiation of chondrogenic tissue through its binding of high affinity with BMPR1B and of less affinity with BMPR1A, leading to induction of SMAD1-SMAD5-SMAD8 complex phosphorylation and then SMAD protein signaling transduction (PubMed:24098149, PubMed:21976273, PubMed:15530414, PubMed:25092592). Secondly, negatively regulates chondrogenic differentiation through its interaction with NOG (PubMed:21976273). Required to prevent excessive muscle loss upon denervation. This function requires SMAD4 and is mediated by phosphorylated SMAD1/5/8 (By similarity). Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205).',NULL,NULL,NULL,NULL,NULL),(967,'UniProt Function',NULL,1127,NULL,'Catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome.',NULL,NULL,NULL,NULL,NULL),(968,'UniProt Function',NULL,1128,NULL,'Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map (PubMed:23307924). Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specific changes in skeletal structures. Seems to positively regulate differentiation of chondrogenic tissue through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, leading to the activation of SMAD1-SMAD5-SMAD8 complex. The regulation of chondrogenic differentiation is inhibited by NOG (PubMed:26643732). Also involved in the induction of adipogenesis from mesenchymal stem cells. This mechanism acts through the growth factor receptors subunits BMPR1A, BMPR2 and ACVR2A and the activation of SMAD1-SMAD5-SMAD8 complex and MAPK14/p38 (By similarity).',NULL,NULL,NULL,NULL,NULL),(969,'UniProt Function',NULL,1130,NULL,'Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Required for the localization of the EVC2:EVC subcomplex at the base of primary cilia.',NULL,NULL,NULL,NULL,NULL),(970,'UniProt Function',NULL,1131,NULL,'Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis.',NULL,NULL,NULL,NULL,NULL),(971,'UniProt Function',NULL,1132,NULL,'Serine protease inhibitor with activity toward thrombin, trypsin, and urokinase. Promotes neurite extension by inhibiting thrombin. Binds heparin.',NULL,NULL,NULL,NULL,NULL),(972,'UniProt Function',NULL,1133,NULL,'Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Shows a preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF), lysophosphatidylethanolamine (lyso-PE) and lysophosphatidylcholine (lyso-PC). May be involved in bioactive N-acylethanolamine biosynthesis. Does not display glycerophosphodiester phosphodiesterase activity, since it cannot hydrolyze either glycerophosphoinositol or glycerophosphocholine.',NULL,NULL,NULL,NULL,NULL),(973,'UniProt Function',NULL,1134,NULL,'Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5\'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates the cleavage of 5\'-ssDNA, while the 3\'-ssDNA cleavage is prevented by the presence of RPA. Also involved in DNA replication checkpoint independently of Okazaki fragments processing. Possesses different enzymatic activities, such as single-stranded DNA (ssDNA)-dependent ATPase, 5\'-3\' helicase and endonuclease activities. While the ATPase and endonuclease activities are well-defined and play a key role in Okazaki fragments processing and DSB repair, the 5\'-3\' DNA helicase activity is subject to debate. According to various reports, the helicase activity is weak and its function remains largely unclear. Helicase activity may promote the motion of DNA2 on the flap, helping the nuclease function.',NULL,NULL,NULL,NULL,NULL),(974,'UniProt Function',NULL,1135,NULL,'Interacts with the cytoplasmic tail of NMDA receptor subunits and shaker-type potassium channels. Required for synaptic plasticity associated with NMDA receptor signaling. Overexpression or depletion of DLG4 changes the ratio of excitatory to inhibitory synapses in hippocampal neurons. May reduce the amplitude of ASIC3 acid-evoked currents by retaining the channel intracellularly. May regulate the intracellular trafficking of ADR1B. Also regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated state in the presence of glutamate and preventing synaptic depression.',NULL,NULL,NULL,NULL,NULL),(975,'UniProt Function',NULL,1136,NULL,'Plays a role in the regulation of cell proliferation. Promotes activation of the AKT1 signaling pathway. Promotes phosphorylation of AKT1 at \'Ser-473\'.',NULL,NULL,NULL,NULL,NULL),(976,'UniProt Function',NULL,1137,NULL,'Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFR2.',NULL,NULL,NULL,NULL,NULL),(977,'UniProt Function',NULL,1138,NULL,'Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity).',NULL,NULL,NULL,NULL,NULL),(978,'UniProt Function',NULL,1139,NULL,'Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(979,'UniProt Function',NULL,1139,NULL,'Isoform 3: plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.',NULL,NULL,NULL,NULL,NULL),(980,'UniProt Function',NULL,1139,NULL,'Isoform 6: required for bundling actin filaments around the nucleus.',NULL,NULL,NULL,NULL,NULL),(981,'UniProt Function',NULL,1139,NULL,'Isoform 7: regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.',NULL,NULL,NULL,NULL,NULL),(982,'UniProt Function',NULL,1141,NULL,'May participate in spermatogenesis via its interaction with DAZ (PubMed:15081113). Has a role in primary cilium formation (PubMed:19852954).',NULL,NULL,NULL,NULL,NULL),(983,'UniProt Function',NULL,1142,NULL,'E3 Ubiquitin ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Able to specifically bind RNA.',NULL,NULL,NULL,NULL,NULL),(984,'UniProt Function',NULL,1143,NULL,'Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5\'-TTTC[CG]CGC-3\' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F3 binds specifically to RB1 in a cell-cycle dependent manner. Inhibits adipogenesis, probably through the repression of CEBPA binding to its target gene promoters (By similarity).',NULL,NULL,NULL,NULL,NULL),(985,'UniProt Function',NULL,1144,NULL,'Inhibitor of E2F-dependent transcription. Binds DNA cooperatively with DP proteins through the E2 recognition site, 5\'-TTTC[CG]CGC-3\'. Has a preference for the 5\'-TTTCCCGC-3\' E2F recognition site. E2F6 lacks the transcriptional activation and pocket protein binding domains. Appears to regulate a subset of E2F-dependent genes whose products are required for entry into the cell cycle but not for normal cell cycle progression. May silence expression via the recruitment of a chromatin remodeling complex containing histone H3-K9 methyltransferase activity. Overexpression delays the exit of cells from the S-phase.',NULL,NULL,NULL,NULL,NULL),(986,'UniProt Function',NULL,1145,NULL,'Atypical E2F transcription factor that participates in various processes such as angiogenesis, polyploidization of specialized cells and DNA damage response. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5\'-TTTC[CG]CGC-3\'. Directly represses transcription of classical E2F transcription factors such as E2F1. Acts as a regulator of S-phase by recognizing and binding the E2-related site 5\'-TTCCCGCC-3\' and mediating repression of G1/S-regulated genes. Plays a key role in polyploidization of cells in placenta and liver by regulating the endocycle, probably by repressing genes promoting cytokinesis and antagonizing action of classical E2F proteins (E2F1, E2F2 and/or E2F3). Required for placental development by promoting polyploidization of trophoblast giant cells. Also involved in DNA damage response: up-regulated by p53/TP53 following genotoxic stress and acts as a downstream effector of p53/TP53-dependent repression by mediating repression of indirect p53/TP53 target genes involved in DNA replication. Acts as a promoter of sprouting angiogenesis, possibly by acting as a transcription activator: associates with HIF1A, recognizes and binds the VEGFA promoter, which is different from canonical E2 recognition site, and activates expression of the VEGFA gene. Acts as a negative regulator of keratinocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(987,'UniProt Function',NULL,1146,NULL,'Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5\'-TTTC[CG]CGC-3\' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F1 binds preferentially RB1 in a cell-cycle dependent manner. It can mediate both cell proliferation and TP53/p53-dependent apoptosis. Blocks adipocyte differentiation by binding to specific promoters repressing CEBPA binding to its target gene promoters (PubMed:20176812). Positively regulates transcription of RRP1B (PubMed:20040599).',NULL,NULL,NULL,NULL,NULL),(988,'UniProt Function',NULL,1147,NULL,'Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127).',NULL,NULL,NULL,NULL,NULL),(989,'UniProt Function',NULL,1148,NULL,'Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5.',NULL,NULL,NULL,NULL,NULL),(990,'UniProt Function',NULL,1149,NULL,'Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7914198, PubMed:7521911, PubMed:8857541, PubMed:26690923, PubMed:21123949). Can also transport L-cysteine (PubMed:21123949). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:7521911, PubMed:8857541, PubMed:26690923). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:8857541, PubMed:26690923). Plays an important role in L-glutamate and L-aspartate reabsorption in renal tubuli (PubMed:21123949). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity). Negatively regulated by ARL6IP5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(991,'UniProt Function',NULL,1150,NULL,'Transports L-glutamate; the L-glutamate uptake is sodium- and voltage-dependent and chloride-independent. Its associated chloride conductance may participate in visual processing.',NULL,NULL,NULL,NULL,NULL),(992,'UniProt Function',NULL,1151,NULL,'May play an important role in the fine-tuning of both major E2F1 activities, the regulation of the cell-cycle and the induction of apoptosis. Promotes S-phase entry, and inhibits p14(ARP) expression.',NULL,NULL,NULL,NULL,NULL),(993,'UniProt Function',NULL,1152,NULL,'Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.',NULL,NULL,NULL,NULL,NULL),(994,'UniProt Function',NULL,1153,NULL,'Regulator of p53/TP53 stability and function. Inhibits MDM2-mediated degradation of p53/TP53 possibly by cooperating in part with TXNIP (PubMed:16849563, PubMed:23880345). May be involved transcriptional regulation. In vitro has intrinsic transactivation activity enhanced by EP300. May be a transcriptional activator required for the expression of glycolytic genes (PubMed:19919181, PubMed:9928932). Involved in regulation of cell cycle progression. Proposed to disrupt Rb-E2F binding leading to transcriptional activation of E2F proteins (PubMed:19640839). The cell cycle -regulating function may depend on its RUVBL1-mediated association with the R2TP complex (PubMed:26711270). May play a role in regulation of pre-mRNA splicing (PubMed:24722212).',NULL,NULL,NULL,NULL,NULL),(995,'UniProt Function',NULL,1154,NULL,'Bifunctional subunit.',NULL,NULL,NULL,NULL,NULL),(996,'UniProt Function',NULL,1158,NULL,'Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate.',NULL,NULL,NULL,NULL,NULL),(997,'UniProt Function',NULL,1160,NULL,'Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species.',NULL,NULL,NULL,NULL,NULL),(998,'UniProt Function',NULL,1161,NULL,'Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates (By similarity).',NULL,NULL,NULL,NULL,NULL),(999,'UniProt Function',NULL,1162,NULL,'Catalyzes the conversion of the 17-keto group of estrone, 4- and 5-androstenes and 5-alpha-androstanes into their 17-beta-hydroxyl metabolites and the conversion of the 3-keto group of 3-, 3,17- and 3,20- diketosteroids into their 3-hydroxyl metabolites. Exhibits reductive 3-beta-hydroxysteroid dehydrogenase activity toward 5-beta-androstanes, 5-beta-pregnanes, 4-pregnenes and bile acids. May also reduce endogenous and exogenous alpha-dicarbonyl compounds and xenobiotic alicyclic ketones.',NULL,NULL,NULL,NULL,NULL),(1000,'UniProt Function',NULL,1163,NULL,'Implicated in nucleolar organization, ribosome biogenesis, protein synthesis and cytoplasmic dsRNA sensing (By similarity) (PubMed:21930779, PubMed:23871209, PubMed:26100019). Stimulates RNA polymerase I transcription of the 47S precursor rRNA. Associates with ribosomal DNA (rDNA) loci where it is involved in POLR1A recruitment (PubMed:21930779). In the cytoplasm, promotes elongation-competent 80S ribosome assembly at the late stage of mRNA translation initiation (PubMed:26100019). Senses cytosolic dsRNA mediating NLRP3 inflammasome formation in macrophages and type I interferon production in myeloid dendritic cells (PubMed:23871209). Required for NLRP3 activation induced by viral dsRNA and bacterial RNA (PubMed:23871209). In dendritic cells, required for induction of type I interferon production induced by cytoplasmic dsRNA via the activation of MAPK and NF-kappa-B signaling pathways (By similarity).',NULL,NULL,NULL,NULL,NULL),(1001,'UniProt Function',NULL,1164,NULL,'May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade.',NULL,NULL,NULL,NULL,NULL),(1002,'UniProt Function',NULL,1165,NULL,'Involved in the positive regulation of starvation-induced autophagy (PubMed:25076851).',NULL,NULL,NULL,NULL,NULL),(1003,'UniProt Function',NULL,1166,NULL,'Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through interactions with the actin cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(1004,'UniProt Function',NULL,1169,NULL,'May be involved in sexual development.',NULL,NULL,NULL,NULL,NULL),(1005,'UniProt Function',NULL,1170,NULL,'May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(1006,'UniProt Function',NULL,1171,NULL,'Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10.',NULL,NULL,NULL,NULL,NULL),(1007,'UniProt Function',NULL,1172,NULL,'Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules.',NULL,NULL,NULL,NULL,NULL),(1008,'UniProt Function',NULL,1173,NULL,'Involved in the signal transduction pathway mediated by multiple Wnt genes.',NULL,NULL,NULL,NULL,NULL),(1009,'UniProt Function',NULL,1174,NULL,'Enhances the activity of ATP2A1/SERCA1 ATPase in sarcoplasmic reticulum by displacing ATP2A1/SERCA1 inhibitors, thereby acting as a key regulator of skeletal muscle activity. Does not directly stimulate SERCA pump activity. Enhances sarcoplasmic reticulum Ca(2+) uptake and myocyte contractility by displacing the SERCA inhibitory peptides sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN).',NULL,NULL,NULL,NULL,NULL),(1010,'UniProt Function',NULL,1175,NULL,'Involved in nuclear export of spliced and unspliced mRNA. Assembling component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5\' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. May undergo several rounds of ATP hydrolysis during assembly of TREX to drive subsequent loading of components such as ALYREF/THOC and CHTOP onto mRNA. The TREX complex is essential for the export of Kaposi\'s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Also associates with pre-mRNA independent of ALYREF/THOC4 and the THO complex. Involved in the nuclear export of intronless mRNA; the ATP-bound form is proposed to recruit export adapter ALYREF/THOC4 to intronless mRNA; its ATPase activity is cooperatively stimulated by RNA and ALYREF/THOC4 and ATP hydrolysis is thought to trigger the dissociation from RNA to allow the association of ALYREF/THOC4 and the NXF1-NXT1 heterodimer. Involved in transcription elongation and genome stability.',NULL,NULL,NULL,NULL,NULL),(1011,'UniProt Function',NULL,1175,NULL,'Splice factor that is required for the first ATP-dependent step in spliceosome assembly and for the interaction of U2 snRNP with the branchpoint. Has both RNA-stimulated ATP binding/hydrolysis activity and ATP-dependent RNA unwinding activity. Even with the stimulation of RNA, the ATPase activity is weak. Can only hydrolyze ATP but not other NTPs. The RNA stimulation of ATPase activity does not have a strong preference for the sequence and length of the RNA. However, ssRNA stimulates the ATPase activity much more strongly than dsRNA. Can unwind 5\' or 3\' overhangs or blunt end RNA duplexes in vitro. The ATPase and helicase activities are not influenced by U2AF2; the effect of ALYREF/THOC4 is reported conflictingly with [PubMed:23299939] reporting a stimulatory effect.',NULL,NULL,NULL,NULL,NULL),(1012,'UniProt Function',NULL,1176,NULL,'Inhibits glucokinase (GCK) by forming an inactive complex with this enzyme. The affinity of GCKR for GCK is modulated by fructose metabolites: GCKR with bound fructose 6-phosphate has increased affinity for GCK, while GCKR with bound fructose 1-phosphate has strongly decreased affinity for GCK and does not inhibit GCK activity.',NULL,NULL,NULL,NULL,NULL),(1013,'UniProt Function',NULL,1177,NULL,'Transcription factor involved in the control of expression of placental growth factor (PGF) and other placenta-specific genes (PubMed:10542267, PubMed:18160678). Binds to the trophoblast-specific element 2 (TSE2) of the aromatase gene enhancer (PubMed:10542267). Binds to the SYDE1 promoter (PubMed:27917469). Has a central role in mediating the differentiation of trophoblast cells along both the villous and extravillous pathways in placental development (PubMed:19219068).',NULL,NULL,NULL,NULL,NULL),(1014,'UniProt Function',NULL,1178,NULL,'Glycosyltransferase that mediates core 2 O-glycan branching, an important step in mucin-type biosynthesis. Does not have core 4 O-glycan or I-branching enzyme activity.',NULL,NULL,NULL,NULL,NULL),(1015,'UniProt Function',NULL,1179,NULL,'Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.',NULL,NULL,NULL,NULL,NULL),(1016,'UniProt Function',NULL,1180,NULL,'Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.',NULL,NULL,NULL,NULL,NULL),(1017,'UniProt Function',NULL,1181,NULL,'Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.',NULL,NULL,NULL,NULL,NULL),(1018,'UniProt Function',NULL,1182,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.',NULL,NULL,NULL,NULL,NULL),(1019,'UniProt Function',NULL,1183,NULL,'May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(1020,'UniProt Function',NULL,1184,NULL,'Receptor for glucocorticoids (GC) (PubMed:27120390). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors. Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Involved in chromatin remodeling (PubMed:9590696). Plays a role in rapid mRNA degradation by binding to the 5\' UTR of target mRNAs and interacting with PNRC2 in a ligand-dependent manner which recruits the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514). Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(1021,'UniProt Function',NULL,1184,NULL,'Isoform Alpha: Has transcriptional activation and repression activity (PubMed:15866175, PubMed:19248771, PubMed:20484466, PubMed:23820903, PubMed:11435610, PubMed:15769988, PubMed:17635946, PubMed:19141540, PubMed:21664385). Mediates glucocorticoid-induced apoptosis (PubMed:23303127). Promotes accurate chromosome segregation during mitosis (PubMed:25847991). May act as a tumor suppressor (PubMed:25847991). May play a negative role in adipogenesis through the regulation of lipolytic and antilipogenic gene expression (By similarity).',NULL,NULL,NULL,NULL,NULL),(1022,'UniProt Function',NULL,1184,NULL,'Isoform Beta: Acts as a dominant negative inhibitor of isoform Alpha (PubMed:7769088, PubMed:8621628, PubMed:20484466). Has intrinsic transcriptional activity independent of isoform Alpha when both isoforms are coexpressed (PubMed:19248771, PubMed:26711253). Loses this transcription modulator function on its own (PubMed:20484466). Has no hormone-binding activity (PubMed:8621628). May play a role in controlling glucose metabolism by maintaining insulin sensitivity (By similarity). Reduces hepatic gluconeogenesis through down-regulation of PEPCK in an isoform Alpha-dependent manner (PubMed:26711253). Directly regulates STAT1 expression in isoform Alpha-independent manner (PubMed:26711253).',NULL,NULL,NULL,NULL,NULL),(1023,'UniProt Function',NULL,1184,NULL,'Isoform Alpha-2: Has lower transcriptional activation activity than isoform Alpha. Exerts a dominant negative effect on isoform Alpha trans-repression mechanism (PubMed:20484466).',NULL,NULL,NULL,NULL,NULL),(1024,'UniProt Function',NULL,1184,NULL,'Isoform GR-P: Increases activity of isoform Alpha.',NULL,NULL,NULL,NULL,NULL),(1025,'UniProt Function',NULL,1184,NULL,'Isoform Alpha-B: More effective than isoform Alpha in transcriptional activation, but not repression activity.',NULL,NULL,NULL,NULL,NULL),(1026,'UniProt Function',NULL,1184,NULL,'Isoform 10: Has transcriptional activation activity.',NULL,NULL,NULL,NULL,NULL),(1027,'UniProt Function',NULL,1184,NULL,'Isoform Alpha-C1: Has transcriptional activation activity.',NULL,NULL,NULL,NULL,NULL),(1028,'UniProt Function',NULL,1184,NULL,'Isoform Alpha-C2: Has transcriptional activation activity.',NULL,NULL,NULL,NULL,NULL),(1029,'UniProt Function',NULL,1184,NULL,'Isoform Alpha-C3: Has highest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127). Mediates glucocorticoid-induced apoptosis (PubMed:23303127, PubMed:23820903).',NULL,NULL,NULL,NULL,NULL),(1030,'UniProt Function',NULL,1184,NULL,'Isoform Alpha-D1: Has transcriptional activation activity.',NULL,NULL,NULL,NULL,NULL),(1031,'UniProt Function',NULL,1184,NULL,'Isoform Alpha-D2: Has transcriptional activation activity.',NULL,NULL,NULL,NULL,NULL),(1032,'UniProt Function',NULL,1184,NULL,'Isoform Alpha-D3: Has lowest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127).',NULL,NULL,NULL,NULL,NULL),(1033,'UniProt Function',NULL,1185,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.',NULL,NULL,NULL,NULL,NULL),(1034,'UniProt Function',NULL,1186,NULL,'Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes. Involved in receptor-mediated endocytosis.',NULL,NULL,NULL,NULL,NULL),(1035,'UniProt Function',NULL,1187,NULL,'Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5\'-TTTC[CG]CGC-3\' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from g1 to s phase. E2F2 binds specifically to RB1 in a cell-cycle dependent manner.',NULL,NULL,NULL,NULL,NULL),(1036,'UniProt Function',NULL,1188,NULL,'Up-regulates the activity of the Rho guanine nucleotide exchange factor ARHGEF18 (By similarity). Involved in the regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950). Promotes cellular adhesion, migration and motility in vitro and may play a role in wound healing (PubMed:23664528). May have a role in mediating cytoskeletal changes associated with steroid-induced cell differentiation (PubMed:14521927).',NULL,NULL,NULL,NULL,NULL),(1037,'UniProt Function',NULL,1189,NULL,'May function as a transcriptional repressor. May also function as a ubiquitin ligase mediating ubiquitination of chromatin-associated TP53. Functions in cell survival and proliferation through control of the cell cycle. Functions in the p53 and pRB tumor suppressor pathways and regulates the cyclin CCNA2 transcription.',NULL,NULL,NULL,NULL,NULL),(1038,'UniProt Function',NULL,1189,NULL,'Identified as a cellular target of the adenoviral oncoprotein E1A, it is required for both transcriptional activation and repression of viral genes.',NULL,NULL,NULL,NULL,NULL),(1039,'UniProt Function',NULL,1192,NULL,'Involved in the Notch signaling pathway as Notch ligand (PubMed:11134954). Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting (PubMed:20616313). Essential for retinal progenitor proliferation. Required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types (By similarity). During spinal cord neurogenesis, inhibits V2a interneuron fate (PubMed:17728344).',NULL,NULL,NULL,NULL,NULL),(1040,'UniProt Function',NULL,1193,NULL,'May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis.',NULL,NULL,NULL,NULL,NULL),(1041,'UniProt Function',NULL,1194,NULL,'May be considered as a candidate tumor suppressor gene for brain, lung, esophageal, gastric, and colorectal cancers. May play roles in mucosal defense system, cellular immune defense and epithelial differentiation. May play a role as an opsonin receptor for SFTPD and SPAR in macrophage tissues throughout the body, including epithelial cells lining the gastrointestinal tract. May play a role in liver regeneration. May be an important factor in fate decision and differentiation of transit-amplifying ductular (oval) cells within the hepatic lineage. Required for terminal differentiation of columnar epithelial cells during early embryogenesis. May function as a binding protein in saliva for the regulation of taste sensation. Binds to HIV-1 envelope protein and has been shown to both inhibit and facilitate viral transmission. Displays a broad calcium-dependent binding spectrum against both Gram-positive and Gram-negative bacteria, suggesting a role in defense against bacterial pathogens. Binds to a range of poly-sulfated and poly-phosphorylated ligands which may explain its broad bacterial-binding specificity. Inhibits cytoinvasion of S.enterica. Associates with the actin cytoskeleton and is involved in its remodeling during regulated exocytosis. Interacts with pancreatic zymogens in a pH-dependent manner and may act as a Golgi cargo receptor in the regulated secretory pathway of the pancreatic acinar cell.',NULL,NULL,NULL,NULL,NULL),(1042,'UniProt Function',NULL,1196,NULL,'May play a role in the signal transduction pathway mediated by multiple Wnt genes.',NULL,NULL,NULL,NULL,NULL),(1043,'UniProt Function',NULL,1197,NULL,'Isoform 1: Involved in pre-mRNA splicing. Required for the export of mRNA out of the nucleus.',NULL,NULL,NULL,NULL,NULL),(1044,'UniProt Function',NULL,1198,NULL,'Required for the processing of the 27S pre-rRNA.',NULL,NULL,NULL,NULL,NULL),(1045,'UniProt Function',NULL,1199,NULL,'May act as an RNA-binding protein. The C-terminal region is highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes. The viral protein also possesses a nuclear import and a nuclear export signal. These 2 signals seem absent in EBLN-2 supporting an unrelated function in Human.',NULL,NULL,NULL,NULL,NULL),(1046,'UniProt Function',NULL,1200,NULL,'Does not possess sterol isomerase activity and does not bind sigma ligands.',NULL,NULL,NULL,NULL,NULL),(1047,'UniProt Function',NULL,1201,NULL,'Converts big endothelin-1 to endothelin-1.',NULL,NULL,NULL,NULL,NULL),(1048,'UniProt Function',NULL,1202,NULL,'Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and prodynorphin-derived peptides. May play a role in amyloid-beta processing (By similarity).',NULL,NULL,NULL,NULL,NULL),(1049,'UniProt Function',NULL,1203,NULL,'May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.',NULL,NULL,NULL,NULL,NULL),(1050,'UniProt Function',NULL,1204,NULL,'Cytotoxin and helminthotoxin with low-efficiency ribonuclease activity. Possesses a wide variety of biological activities. Exhibits antibacterial activity, including cytoplasmic membrane depolarization of preferentially Gram-negative, but also Gram-positive strains. Promotes E.coli outer membrane detachment, alteration of the overall cell shape and partial loss of cell content.',NULL,NULL,NULL,NULL,NULL),(1051,'UniProt Function',NULL,1205,NULL,'In the process of mRNA degradation, seems to play a role in mRNA decapping. Component of a complex containing DCP2 and DCP1A which functions in decapping of ARE-containing mRNAs. Promotes complex formation between DCP1A and DCP2. Enhances the catalytic activity of DCP2 (in vitro).',NULL,NULL,NULL,NULL,NULL),(1052,'UniProt Function',NULL,1207,NULL,'Involved in the endoplasmic reticulum-associated degradation (ERAD) pathway that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner (PubMed:15537790, PubMed:25092655). May initiate ERAD by promoting the first mannose trimming step of ERAD substrates, from Man9GlcNAc2 to Man8GlcNAc2 (PubMed:25092655). Seems to recognize and bind to exposed hydrophobic regions in target proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(1053,'UniProt Function',NULL,1208,NULL,'Involved in endoplasmic reticulum-associated degradation (ERAD). Accelerates the glycoprotein ERAD by proteasomes, by catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in the N-glycans. Seems to have alpha 1,2-mannosidase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(1054,'UniProt Function',NULL,1209,NULL,'Transcriptional coactivator stimulating NR5A1 and ligand-dependent NR1H3/LXRA and PPARG transcriptional activities. Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1. Regulates nitric oxid synthase activity probably by sequestering calmodulin in the cytoplasm. May function in endothelial cells differentiation, hormone-induced cardiomyocytes hypertrophy and lipid metabolism.',NULL,NULL,NULL,NULL,NULL),(1055,'UniProt Function',NULL,1210,NULL,'Promotes adhesion of endothelial cells through interaction with the alpha-v/beta-3 integrin receptor. Inhibits formation of vascular-like structures. May be involved in regulation of vascular morphogenesis of remodeling in embryonic development.',NULL,NULL,NULL,NULL,NULL),(1056,'UniProt Function',NULL,1211,NULL,'Endothelins are endothelium-derived vasoconstrictor peptides.',NULL,NULL,NULL,NULL,NULL),(1057,'UniProt Function',NULL,1213,NULL,'Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene.',NULL,NULL,NULL,NULL,NULL),(1058,'UniProt Function',NULL,1214,NULL,'This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.',NULL,NULL,NULL,NULL,NULL),(1059,'UniProt Function',NULL,1216,NULL,'Able to inhibit growth in several cell lines.',NULL,NULL,NULL,NULL,NULL),(1060,'UniProt Function',NULL,1219,NULL,'Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes (PubMed:9852097). Plays a key role in cell positioning and movement in lymphoid tissues: 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element binding protein (SREBP) processing. In testis, production of 25-hydroxycholesterol by macrophages may play a role in Leydig cell differentiation.',NULL,NULL,NULL,NULL,NULL),(1061,'UniProt Function',NULL,1220,NULL,'Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones.',NULL,NULL,NULL,NULL,NULL),(1062,'UniProt Function',NULL,1221,NULL,'May play a role in the development of the nervous system such as in neurite outgrowth and elongation. May be involved in motor axon growth and guidance.',NULL,NULL,NULL,NULL,NULL),(1063,'UniProt Function',NULL,1222,NULL,'Activator of the NOTCH1 pathway. May mediate neuron-glia interaction during astrocytogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(1064,'UniProt Function',NULL,1224,NULL,'Modulates apoptotic signal transduction or effector structures within the mitochondrial matrix. Affect cytochrome C release from the mitochondria and caspase 3 activation, but not caspase 8 activation. Isoform 1 increases apoptosis triggered by both TNF and the DNA-damaging agent mytomycin C; in sharp contrast, isoform 2 suppresses apoptosis. Can modulate IFN-gamma-mediated transcriptional activity. Isoform 2 may play a role in neuromuscular junction development as an effector of the MUSK signaling pathway.',NULL,NULL,NULL,NULL,NULL),(1065,'UniProt Function',NULL,1226,NULL,'Interacts with HSP70 and can stimulate its ATPase activity. Stimulates the association between HSC70 and HIP. Negatively regulates heat shock-induced HSF1 transcriptional activity during the attenuation and recovery phase period of the heat shock response (PubMed:9499401). Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877).',NULL,NULL,NULL,NULL,NULL),(1066,'UniProt Function',NULL,1227,NULL,'Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function.',NULL,NULL,NULL,NULL,NULL),(1067,'UniProt Function',NULL,1228,NULL,'Hydrolyzes DNA under acidic conditions. Does not require divalent cations for activity. Participates in the degradation of nuclear DNA during lens cell differentiation.',NULL,NULL,NULL,NULL,NULL),(1068,'UniProt Function',NULL,1229,NULL,'Divalent cation-dependent acid DNA endonuclease involved in the breakdown of the nucleus during corneocyte formation of epidermal keratinocytes. May play an immune role by eliminating harmful DNA released into the extracellular environment by damaged epidermal cells.',NULL,NULL,NULL,NULL,NULL),(1069,'UniProt Function',NULL,1230,NULL,'May play a role in T-cell development.',NULL,NULL,NULL,NULL,NULL),(1070,'UniProt Function',NULL,1231,NULL,'Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM.',NULL,NULL,NULL,NULL,NULL),(1071,'UniProt Function',NULL,1232,NULL,'Calcium sensor which most probably regulates fusion of vesicles with membranes. Binds calcium and phospholipids. May be involved in calcium dependent neurotransmitter release through the interaction with UNC13A. May be involved in calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells.',NULL,NULL,NULL,NULL,NULL),(1072,'UniProt Function',NULL,1233,NULL,'Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines. Activates RAC1 and RAC2, but not CDC42, by functioning as a guanine nucleotide exchange factor (GEF), which exchanges bound GDP for free GTP. May also participate in IL2 transcriptional activation via the activation of RAC2.',NULL,NULL,NULL,NULL,NULL),(1073,'UniProt Function',NULL,1234,NULL,'Involved in regulation of adherens junction between cells. Plays a role in cell migration. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP.',NULL,NULL,NULL,NULL,NULL),(1074,'UniProt Function',NULL,1235,NULL,'Guanine nucleotide exchange factor (GEF) for Rho and Rac. GEF proteins activate small GTPases by exchanging bound GDP for free GTP (By similarity). Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen (PubMed:19004829).',NULL,NULL,NULL,NULL,NULL),(1075,'UniProt Function',NULL,1236,NULL,'Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity).',NULL,NULL,NULL,NULL,NULL),(1076,'UniProt Function',NULL,1237,NULL,'Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:28028151, PubMed:22461490). During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane (PubMed:28028151). Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing (PubMed:25762780).',NULL,NULL,NULL,NULL,NULL),(1077,'UniProt Function',NULL,1238,NULL,'Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Overexpression induces filopodia formation.',NULL,NULL,NULL,NULL,NULL),(1078,'UniProt Function',NULL,1239,NULL,'Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L-lysine intermediate produced by deoxyhypusine synthase/DHPS on a critical lysine of the eukaryotic translation initiation factor 5A/eIF-5A. This is the second step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine (PubMed:16533814, PubMed:16371467, PubMed:19706422). Hypusination is unique to mature eIF-5A factor and is essential for its function (By similarity).',NULL,NULL,NULL,NULL,NULL),(1079,'UniProt Function',NULL,1240,NULL,'DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK1 appears to be a negative regulator of the insulin signaling pathway. Modulates integrin activation by competing with talin for the same binding site on ITGB3.',NULL,NULL,NULL,NULL,NULL),(1080,'UniProt Function',NULL,1241,NULL,'DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK2 may modulate the cellular proliferation induced by IL-4, as well as IL-2 and IL-3. May be involved in modulating Bcr-Abl signaling. Attenuates EGF-stimulated MAP kinase activation (By similarity).',NULL,NULL,NULL,NULL,NULL),(1081,'UniProt Function',NULL,1242,NULL,'DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK3 is a negative regulator of JNK signaling in B-cells through interaction with INPP5D/SHIP1. May modulate ABL1 function (By similarity).',NULL,NULL,NULL,NULL,NULL),(1082,'UniProt Function',NULL,1243,NULL,'DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK4 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway (By similarity). Putative link with downstream effectors of RET in neuronal differentiation. May be involved in the regulation of the immune response induced by T-cells.',NULL,NULL,NULL,NULL,NULL),(1083,'UniProt Function',NULL,1244,NULL,'DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK5 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway. Putative link with downstream effectors of RET in neuronal differentiation.',NULL,NULL,NULL,NULL,NULL),(1084,'UniProt Function',NULL,1245,NULL,'DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK6 promotes Ret-mediated neurite growth. May have a role in brain development and/or maintenance.',NULL,NULL,NULL,NULL,NULL),(1085,'UniProt Function',NULL,1246,NULL,'Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.',NULL,NULL,NULL,NULL,NULL),(1086,'UniProt Function',NULL,1247,NULL,'Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors.',NULL,NULL,NULL,NULL,NULL),(1087,'UniProt Function',NULL,1248,NULL,'Replisome component that maintains genome stability by protecting stalled or damaged replication forks. After the induction of replication stress, required for the stabilization of stalled replication forks, the efficient activation of the intra-S-phase and G/2M cell-cycle checkpoints and the maintenance of genome stability.',NULL,NULL,NULL,NULL,NULL),(1088,'UniProt Function',NULL,1249,NULL,'May be involved in protein traffic between late Golgi and early endosomes.',NULL,NULL,NULL,NULL,NULL),(1089,'UniProt Function',NULL,1250,NULL,'May be involved in protein traffic between late Golgi and early endosomes.',NULL,NULL,NULL,NULL,NULL),(1090,'UniProt Function',NULL,1251,NULL,'Tautomerization of D-dopachrome with decarboxylation to give 5,6-dihydroxyindole (DHI).',NULL,NULL,NULL,NULL,NULL),(1091,'UniProt Function',NULL,1252,NULL,'Conversion of dopamine to noradrenaline.',NULL,NULL,NULL,NULL,NULL),(1092,'UniProt Function',NULL,1253,NULL,'Required for efficient N-glycosylation. Necessary for maintaining optimal levels of dolichol-linked oligosaccharides. Hydrolyzes dolichyl pyrophosphate at a very high rate and dolichyl monophosphate at a much lower rate. Does not act on phosphatidate (By similarity).',NULL,NULL,NULL,NULL,NULL),(1093,'UniProt Function',NULL,1254,NULL,'Histone methyltransferase. Methylates \'Lys-79\' of histone H3. Nucleosomes are preferred as substrate compared to free histones (PubMed:12123582). Binds to DNA (PubMed:12628190).',NULL,NULL,NULL,NULL,NULL),(1094,'UniProt Function',NULL,1255,NULL,'May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1.',NULL,NULL,NULL,NULL,NULL),(1095,'UniProt Function',NULL,1256,NULL,'Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX2. May play a role in thyroid hormone synthesis.',NULL,NULL,NULL,NULL,NULL),(1096,'UniProt Function',NULL,1257,NULL,'Adapter protein that interacts with proteins involved in different cellular signaling pathways. Required for the regulation of cell proliferation in response to extracellular signals from an early endosomal compartment. Links Rab5 to nuclear signal transduction. Involved in the regulation of the insulin receptor signaling pathway.',NULL,NULL,NULL,NULL,NULL),(1097,'UniProt Function',NULL,1258,NULL,'Required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment. Links Rab5 to nuclear signal transduction.',NULL,NULL,NULL,NULL,NULL),(1098,'UniProt Function',NULL,1260,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(1099,'UniProt Function',NULL,1261,NULL,'May be involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(1100,'UniProt Function',NULL,1262,NULL,'Catalyzes the reduction of all-trans-retinal to all-trans-retinol in the presence of NADPH.',NULL,NULL,NULL,NULL,NULL),(1101,'UniProt Function',NULL,1263,NULL,'Multifunctional ATP-dependent helicase that unwinds G-quadruplex (G4) structures (PubMed:16150737, PubMed:18854321, PubMed:20472641, PubMed:21586581). Plays a role in many biological processes such as genomic integrity, gene expression regulations and as a sensor to initiate antiviral responses (PubMed:14731398, PubMed:18279852, PubMed:21993297, PubMed:22238380, PubMed:25579584). G4 structures correspond to helical structures containing guanine tetrads (By similarity). Binds with high affinity to and unwinds G4 structures that are formed in nucleic acids (G4-ADN and G4-RNA) (PubMed:16150737, PubMed:18842585, PubMed:20472641, PubMed:21586581, PubMed:24369427, PubMed:26195789). Plays a role in genomic integrity (PubMed:22238380). Converts the G4-RNA structure present in telomerase RNA template component (TREC) into a double-stranded RNA to promote P1 helix formation that acts as a template boundary ensuring accurate reverse transcription (PubMed:20472641, PubMed:21149580, PubMed:21846770, PubMed:22238380, PubMed:24151078, PubMed:25579584). Plays a role in transcriptional regulation (PubMed:21586581, PubMed:21993297). Resolves G4-DNA structures in promoters of genes, such as YY1, KIT/c-kit and ALPL and positively regulates their expression (PubMed:21993297). Plays a role in post-transcriptional regulation (PubMed:27940037). Unwinds a G4-RNA structure located in the 3\'-UTR polyadenylation site of the pre-mRNA TP53 and stimulates TP53 pre-mRNA 3\'-end processing in response to ultraviolet (UV)-induced DNA damage (PubMed:27940037). Binds to the precursor-microRNA-134 (pre-miR-134) terminal loop and regulates its transport into the synapto-dendritic compartment (By similarity). Involved in the pre-miR-134-dependent inhibition of target gene expression and the control of dendritic spine size (By similarity). Plays a role in the regulation of cytoplasmic mRNA translation and mRNA stability (PubMed:24369427, PubMed:26489465). Binds to both G4-RNA structures and alternative non-quadruplex-forming sequence within the 3\'-UTR of the PITX1 mRNA regulating negatively PITX1 protein expression (PubMed:24369427). Binds to both G4-RNA structure in the 5\'-UTR and AU-rich elements (AREs) localized in the 3\'-UTR of NKX2-5 mRNA to either stimulate protein translation or induce mRNA decay in an ELAVL1-dependent manner, respectively (PubMed:26489465). Binds also to ARE sequences present in several mRNAs mediating exosome-mediated 3\'-5\' mRNA degradation (PubMed:14731398, PubMed:18279852). Involved in cytoplasmic urokinase-type plasminogen activator (uPA) mRNA decay (PubMed:14731398). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines via the adapter molecule TICAM1 (By similarity). Required for early embryonic development and hematopoiesis. Involved in the regulation of cardioblast differentiation and proliferation during heart development. Involved in spermatogonia differentiation. May play a role in ossification (By similarity).',NULL,NULL,NULL,NULL,NULL),(1102,'UniProt Function',NULL,1265,NULL,'Probable ATP-dependent RNA helicase.',NULL,NULL,NULL,NULL,NULL),(1103,'UniProt Function',NULL,1266,NULL,'Involved in translocation of malonate, malate and succinate in exchange for phosphate, sulfate, sulfite or thiosulfate across mitochondrial inner membrane.',NULL,NULL,NULL,NULL,NULL),(1104,'UniProt Function',NULL,1267,NULL,'May provide positional cues for axon pathfinding and patterning in the central nervous system.',NULL,NULL,NULL,NULL,NULL),(1105,'UniProt Function',NULL,1268,NULL,'Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway (PubMed:21150129, PubMed:21148293). Acts by determining HSPA8/Hsc70\'s ATPase and polypeptide-binding activities. Can also act independently of HSPA8/Hsc70: together with DNAJB14, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers (PubMed:27916661). While stabilization of nascent channel proteins is dependent on HSPA8/Hsc70, the process of oligomerization of channel subunits is independent of HSPA8/Hsc70 (PubMed:27916661). When overexpressed, forms membranous structures together with DNAJB14 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear (PubMed:24732912).',NULL,NULL,NULL,NULL,NULL),(1106,'UniProt Function',NULL,1268,NULL,'(Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:21673190, PubMed:24675744).',NULL,NULL,NULL,NULL,NULL),(1107,'UniProt Function',NULL,1269,NULL,'Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6 (PubMed:22000856). DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (PubMed:17143291). Inhibits the pro-apoptotic function of KREMEN1 in a Wnt-independent manner, and has anti-apoptotic activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(1108,'UniProt Function',NULL,1270,NULL,'Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity).',NULL,NULL,NULL,NULL,NULL),(1109,'UniProt Function',NULL,1271,NULL,'Involved in fertilization by facilitating sperm penetration of the zona pellucida. May promotes spermatocyte apoptosis, thereby limiting sperm production. In adults, may reduces testosterone synthesis in Leydig cells. Is not essential either for development or fertility.',NULL,NULL,NULL,NULL,NULL),(1110,'UniProt Function',NULL,1273,NULL,'Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity.',NULL,NULL,NULL,NULL,NULL),(1111,'UniProt Function',NULL,1274,NULL,'Required for perception of chronic pain through NMDA receptor signaling. Regulates surface expression of NMDA receptors in dorsal horn neurons of the spinal cord. Interacts with the cytoplasmic tail of NMDA receptor subunits as well as inward rectifying potassium channels. Involved in regulation of synaptic stability at cholinergic synapses. Part of the postsynaptic protein scaffold of excitatory synapses (By similarity).',NULL,NULL,NULL,NULL,NULL),(1112,'UniProt Function',NULL,1275,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(1113,'UniProt Function',NULL,1276,NULL,'May play a role in allowing polymerase epsilon to carry out its replication and/or repair function.',NULL,NULL,NULL,NULL,NULL),(1114,'UniProt Function',NULL,1277,NULL,'Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.',NULL,NULL,NULL,NULL,NULL),(1115,'UniProt Function',NULL,1278,NULL,'Plays an essential role in the initiation of DNA replication. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1/p180, a regulatory subunit POLA2/p70 and two primase subunits PRIM1/p49 and PRIM2/p58) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. The reason this transfer occurs is because the polymerase alpha has limited processivity and lacks intrinsic 3\' exonuclease activity for proofreading error, and therefore is not well suited for replicating long complexes. In the cytosol, responsible for a substantial proportion of the physiological concentration of cytosolic RNA:DNA hybrids, which are necessary to prevent spontaneous activation of type I interferon responses (PubMed:27019227).',NULL,NULL,NULL,NULL,NULL),(1116,'UniProt Function',NULL,1279,NULL,'Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).',NULL,NULL,NULL,NULL,NULL),(1117,'UniProt Function',NULL,1280,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(1118,'UniProt Function',NULL,1281,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(1119,'UniProt Function',NULL,1282,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.',NULL,NULL,NULL,NULL,NULL),(1120,'UniProt Function',NULL,1283,NULL,'Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.',NULL,NULL,NULL,NULL,NULL),(1121,'UniProt Function',NULL,1284,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(1122,'UniProt Function',NULL,1285,NULL,'Has phosphatase activity with synthetic phosphatase substrates and negatively regulates mitogen-activated protein kinase activity, presumably by catalysing their dephosphorylation. Expected to display protein phosphatase activity toward phosphotyrosine, phosphoserine and phosphothreonine residues.',NULL,NULL,NULL,NULL,NULL),(1123,'UniProt Function',NULL,1286,NULL,'Dual specificity phosphatase; can dephosphorylate both phosphotyrosine and phosphoserine or phosphothreonine residues. Can dephosphorylate glucokinase (in vitro) (By similarity). Has phosphatase activity with the synthetic substrate 6,8-difluoro-4-methylumbelliferyl phosphate and other in vitro substrates (PubMed:10446167, PubMed:24531476).',NULL,NULL,NULL,NULL,NULL),(1124,'UniProt Function',NULL,1288,NULL,'Has a dual specificity toward Ser/Thr and Tyr-containing proteins.',NULL,NULL,NULL,NULL,NULL),(1125,'UniProt Function',NULL,1290,NULL,'Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.',NULL,NULL,NULL,NULL,NULL),(1126,'UniProt Function',NULL,1291,NULL,'Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development.',NULL,NULL,NULL,NULL,NULL),(1127,'UniProt Function',NULL,1292,NULL,'Acts as a positive activator of the EIF2AK4/GCN2 protein kinase activity in response to amino acid starvation. Forms a complex with EIF2AK4/GCN2 on translating ribosomes; during this process, GCN1 seems to act as a chaperone to facilitate delivery of uncharged tRNAs that enter the A site of ribosomes to the tRNA-binding domain of EIF2AK4/GCN2, and hence stimulating EIF2AK4/GCN2 kinase activity. Participates in the repression of global protein synthesis and in gene-specific mRNA translation activation, such as the transcriptional activator ATF4, by promoting the EIF2AK4/GCN2-mediated phosphorylation of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on \'Ser-52\', and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion.',NULL,NULL,NULL,NULL,NULL),(1128,'UniProt Function',NULL,1294,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity).',NULL,NULL,NULL,NULL,NULL),(1129,'UniProt Function',NULL,1295,NULL,'Involved in the maintenance of Golgi structure by interacting with giantin, affecting protein transport between the endoplasmic reticulum and Golgi (PubMed:11590181). Involved in hormone-induced steroid biosynthesis in testicular Leydig cells (By similarity). Recruits PI4KB to the Golgi apparatus membrane; enhances the enzyme activity of PI4KB activity via its membrane recruitment thereby increasing the local concentration of the substrate in the vicinity of the kinase (PubMed:27009356).',NULL,NULL,NULL,NULL,NULL),(1130,'UniProt Function',NULL,1295,NULL,'(Microbial infection) Sensitizes PI4KB activation by Kobuviral (Aichi) 3A protein.',NULL,NULL,NULL,NULL,NULL),(1131,'UniProt Function',NULL,1296,NULL,'Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mitotic spindle assembly and metaphase plate congression (PubMed:27462074).',NULL,NULL,NULL,NULL,NULL),(1132,'UniProt Function',NULL,1297,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). Probable inner arm dynein heavy chain.',NULL,NULL,NULL,NULL,NULL),(1133,'UniProt Function',NULL,1298,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.',NULL,NULL,NULL,NULL,NULL),(1134,'UniProt Function',NULL,1299,NULL,'Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme (PubMed:24360805).',NULL,NULL,NULL,NULL,NULL),(1135,'UniProt Function',NULL,1300,NULL,'Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(1136,'UniProt Function',NULL,1301,NULL,'Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in changing or maintaining the spatial distribution of cytoskeletal structures (By similarity).',NULL,NULL,NULL,NULL,NULL),(1137,'UniProt Function',NULL,1302,NULL,'Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Binds to transport cargos and is involved in apical cargo transport such as rhodopsin-bearing vesicles in polarized epithelia. May also be a accessory component of axonemal dynein.',NULL,NULL,NULL,NULL,NULL),(1138,'UniProt Function',NULL,1302,NULL,'Plays a role in neuronal morphogenesis; the function is independent of cytoplasmic dynein and seems to be coupled to regulation of the actin cytoskeleton by enhancing Rac1 activity. The function in neurogenesis may be regulated by association with a G-protein beta-gamma dimer. May function as a receptor-independent activator of heterotrimeric G-protein signaling; the activation appears to be independent of a nucleotide exchange. Plays a role in regulating neurogenesis; inhibits the genesis of neurons from precursor cells during cortical development presumably by antagonizing ARHGEF2. Involved in the regulation of mitotic spindle orientation (By similarity). Unrelated to the role in retrograde microtubule-associated movement may play a role in the dimerization of cytoplasmic proteins/domains such as for ACVR2B. Binds to the cytoplasmic domain of ACVR2B and, in vitro, inhibits ACVR2B signaling (PubMed:27502274).',NULL,NULL,NULL,NULL,NULL),(1139,'UniProt Function',NULL,1302,NULL,'(Microbial infection) Is involved in intracellular targeting of D-type retrovirus gag polyproteins to the cytoplasmic assembly site.',NULL,NULL,NULL,NULL,NULL),(1140,'UniProt Function',NULL,1303,NULL,'Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Exhibits a substrate preference for proline at position P+1 and arginine at position P-3. Has pro-survival function and negatively regulates the apoptotic process. Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1. This in turn inhibits TP53 activity and apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(1141,'UniProt Function',NULL,1304,NULL,'Guanine-nucleotide exchange factor (GEF) for members of the Arf family of small GTPases involved in trafficking in the early secretory pathway; its GEF activity initiates the coating of nascent vesicles via the localized generation of activated ARFs through replacement of GDP with GTP. Recruitment to cis-Golgi membranes requires membrane association of Arf-GDP and can be regulated by ARF1, ARF3, ARF4 and ARF5. Involved in the recruitment of the COPI coat complex to the endoplasmic reticulum exit sites (ERES), and the endoplasmic reticulum-Golgi intermediate (ERGIC) and cis-Golgi compartments which implicates ARF1 activation. Involved in COPI vesicle-dependent retrograde transport from the ERGIC and cis-Golgi compartments to the endoplasmic reticulum (ER) (PubMed:16926190, PubMed:17956946, PubMed:18003980, PubMed:12047556, PubMed:12808027, PubMed:19039328, PubMed:24213530). Involved in the trans-Golgi network recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1 adaptor protein complex related to chlathrin-dependent transport; the function requires its GEF activity (probably at least in part on ARF4 and ARF5) (PubMed:23386609). Has GEF activity towards ARF1 (PubMed:15616190). Has in vitro GEF activity towards ARF5 (By similarity). Involved in the processing of PSAP (PubMed:17666033). Required for the assembly of the Golgi apparatus (PubMed:12808027, PubMed:18003980). The AMPK-phosphorylated form is involved in Golgi disassembly during mitotis and under stress conditions (PubMed:18063581, PubMed:23418352). May be involved in the COPI vesicle-dependent recruitment of PNPLA2 to lipid droplets; however, this function is under debate (PubMed:19461073, PubMed:22185782). In neutrophils, involved in G protein-coupled receptor (GPCR)-mediated chemotaxis und superoxide production. Proposed to be recruited by phosphatidylinositol-phosphates generated upon GPCR stimulation to the leading edge where it recruits and activates ARF1, and is involved in recruitment of GIT2 and the NADPH oxidase complex (PubMed:22573891).',NULL,NULL,NULL,NULL,NULL),(1142,'UniProt Function',NULL,1305,NULL,'Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.',NULL,NULL,NULL,NULL,NULL),(1143,'UniProt Function',NULL,1306,NULL,'Acts as a transcriptional corepressor. Negative regulator of the transcriptional activity of TBX1. Plays a role in the development of the pharyngeal apparatus and derivatives (By similarity).',NULL,NULL,NULL,NULL,NULL),(1144,'UniProt Function',NULL,1309,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.',NULL,NULL,NULL,NULL,NULL),(1145,'UniProt Function',NULL,1311,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.',NULL,NULL,NULL,NULL,NULL),(1146,'UniProt Function',NULL,1312,NULL,'Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and ganglion cell subtypes both isoneuronal self-avoidance for creating an orderly dendritic arborization and heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies (PubMed:10925149). Receptor for netrin required for axon guidance independently of and in collaboration with the receptor DCC. In spinal chord development plays a role in guiding commissural axons projection and pathfinding across the ventral midline to reach the floor plate upon ligand binding (PubMed:18585357, PubMed:19196994). Enhances netrin-induced phosphorylation of PAK1 and FYN (PubMed:15169762). Mediates intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38 (PubMed:18585357, PubMed:19196994). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity).',NULL,NULL,NULL,NULL,NULL),(1147,'UniProt Function',NULL,1313,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.',NULL,NULL,NULL,NULL,NULL),(1148,'UniProt Function',NULL,1314,NULL,'Ubiquitin-like modifier that plays a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton. Involved in apoptosis. Involved in autophagy. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation.',NULL,NULL,NULL,NULL,NULL),(1149,'UniProt Function',NULL,1315,NULL,'Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.',NULL,NULL,NULL,NULL,NULL),(1150,'UniProt Function',NULL,1316,NULL,'Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.',NULL,NULL,NULL,NULL,NULL),(1151,'UniProt Function',NULL,1317,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(1152,'UniProt Function',NULL,1318,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(1153,'UniProt Function',NULL,1319,NULL,'Ubiquitin-like modifier involved in autophagosome formation. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (By similarity).',NULL,NULL,NULL,NULL,NULL),(1154,'UniProt Function',NULL,1320,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone.',NULL,NULL,NULL,NULL,NULL),(1155,'UniProt Function',NULL,1321,NULL,'Has phosphatase activity with the synthetic substrate 6,8-difluoro-4-methylumbelliferyl phosphate (in vitro) (PubMed:24531476, PubMed:29121083). Has almost no detectable activity with phosphotyrosine, even less activity with phosphothreonine and displays complete lack of activity with phosphoserine (PubMed:29121083). The poor activity with phosphotyrosine may be due to steric hindrance by bulky amino acid sidechains that obstruct access to the active site (PubMed:29121083).',NULL,NULL,NULL,NULL,NULL),(1156,'UniProt Function',NULL,1322,NULL,'Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2.',NULL,NULL,NULL,NULL,NULL),(1157,'UniProt Function',NULL,1323,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.',NULL,NULL,NULL,NULL,NULL),(1158,'UniProt Function',NULL,1324,NULL,'Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs.',NULL,NULL,NULL,NULL,NULL),(1159,'UniProt Function',NULL,1325,NULL,'May act as a transcription factor for cell pluripotency and differentiation in the embryo.',NULL,NULL,NULL,NULL,NULL),(1160,'UniProt Function',NULL,1326,NULL,'Golgin which probably tethers transport vesicles to the trans-Golgi network (TGN) and regulates vesicular transport between the endosomes and the Golgi. As a RAB9A effector it is involved in recycling of the mannose 6-phosphate receptor from the late endosomes to the TGN. May also play a role in transport between the recycling endosomes and the Golgi. Required for maintenance of the Golgi structure, it is involved in the biogenesis of noncentrosomal, Golgi-associated microtubules through recruitment of CLASP1 and CLASP2.',NULL,NULL,NULL,NULL,NULL),(1161,'UniProt Function',NULL,1327,NULL,'May be involved in transcriptional regulation (By similarity). Down-regulates MYOD1 expression and may up-regulate MYF5 expression. May regulate microRNA (miRNA) transcription, upregulating the expression of some myogenic miRNAs, including MIR1-1, MIR133A2, MIR133B and MIR206. Impairs the differentiation of myoblasts and may be involved in muscle regeneration.',NULL,NULL,NULL,NULL,NULL),(1162,'UniProt Function',NULL,1328,NULL,'Putative transcription factor.',NULL,NULL,NULL,NULL,NULL),(1163,'UniProt Function',NULL,1329,NULL,'Ribonuclease that specifically degrades pre-mRNAs with a defective 5\' end cap and is part of a pre-mRNA capping quality control. Has decapping, pyrophosphohydrolase and 5\'-3\' exonuclease activities. Has decapping activity toward incomplete 5\' end cap mRNAs such as unmethylated 5\' end-capped RNA to release GpppN and 5\' end monophosphate RNA. The 5\' end monophosphate RNA is then degraded by the 5\'-3\' exoribonuclease activity, enabling this enzyme to decap and degrade incompletely capped mRNAs. Also possesses RNA 5\'-pyrophosphohydrolase activity by hydrolyzing the 5\' end triphosphate to release pyrophosphates (By similarity).',NULL,NULL,NULL,NULL,NULL),(1164,'UniProt Function',NULL,1330,NULL,'Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Participates both in canonical and non-canonical Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling.',NULL,NULL,NULL,NULL,NULL),(1165,'UniProt Function',NULL,1331,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1166,'UniProt Function',NULL,1332,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1167,'UniProt Function',NULL,1333,NULL,'RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3\'-UTR of mRNAs and regulating their translation.',NULL,NULL,NULL,NULL,NULL),(1168,'UniProt Function',NULL,1334,NULL,'Cleaves the 2\'-5\' phosphodiester linkage at the branch point of lariat intron pre-mRNAs after splicing and converts them into linear molecules that are subsequently degraded. It thereby facilitates ribonucleotide turnover. It may also participate in retrovirus replication via an RNA lariat intermediate in cDNA synthesis.',NULL,NULL,NULL,NULL,NULL),(1169,'UniProt Function',NULL,1335,NULL,'May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(1170,'UniProt Function',NULL,1336,NULL,'Protein kinase with a significantly reduced C(a2+)/CAM affinity and dependence compared to other members of the CaMK family. May play a role in the down-regulation of CRE-dependent gene activation probably by phosphorylation of the CREB coactivator CRTC2/TORC2 and the resulting retention of TORC2 in the cytoplasm (By similarity).',NULL,NULL,NULL,NULL,NULL),(1171,'UniProt Function',NULL,1337,NULL,'Required for the phosphorylation of the deoxyribonucleosides deoxycytidine (dC), deoxyguanosine (dG) and deoxyadenosine (dA). Has broad substrate specificity, and does not display selectivity based on the chirality of the substrate. It is also an essential enzyme for the phosphorylation of numerous nucleoside analogs widely employed as antiviral and chemotherapeutic agents.',NULL,NULL,NULL,NULL,NULL),(1172,'UniProt Function',NULL,1338,NULL,'The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).',NULL,NULL,NULL,NULL,NULL),(1173,'UniProt Function',NULL,1340,NULL,'Auxiliary enzyme of beta-oxidation. Participates in the degradation of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in peroxisome. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. Has activity towards short and medium chain 2,4-dienoyl-CoAs, but also towards 2,4,7,10,13,16,19-docosaheptaenoyl-CoA, suggesting that it does not constitute a rate limiting step in the peroxisomal degradation of docosahexaenoic acid.',NULL,NULL,NULL,NULL,NULL),(1174,'UniProt Function',NULL,1341,NULL,'Acts as an ATP-dependent RNA helicase, able to unwind both RNA-RNA and RNA-DNA duplexes. Possesses 5\' single-stranded RNA overhang nuclease activity. Possesses ATPase activity on various RNA, but not DNA polynucleotides. May play a role in RNA clearance at DNA double-strand breaks (DSBs), thereby facilitating the template-guided repair of transcriptionally active regions of the genome. Together with RELA, acts as a coactivator to enhance NF-kappa-B-mediated transcriptional activation. Acts as a positive transcriptional regulator of cyclin CCND2 expression. Binds to the cyclin CCND2 promoter region. Associates with chromatin at the NF-kappa-B promoter region via association with RELA. Binds to poly(A) RNA. May be involved in 3\'-end cleavage and polyadenylation of pre-mRNAs. Component of the tRNA-splicing ligase complex required to facilitate the enzymatic turnover of catalytic subunit RTCB: together with archease (ZBTB8OS), acts by facilitating the guanylylation of RTCB, a key intermediate step in tRNA ligation (PubMed:24870230). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines via the adapter molecule TICAM1. Specifically binds (via helicase ATP-binding domain) on both short and long poly(I:C) dsRNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(1175,'UniProt Function',NULL,1341,NULL,'(Microbial infection) Required for HIV-1 Rev function as well as for HIV-1 and coronavirus IBV replication. Binds to the RRE sequence of HIV-1 mRNAs.',NULL,NULL,NULL,NULL,NULL),(1176,'UniProt Function',NULL,1341,NULL,'(Microbial infection) Required for Coronavirus IBV replication.',NULL,NULL,NULL,NULL,NULL),(1177,'UniProt Function',NULL,1342,NULL,'Tyrosine kinase that functions as cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up-regulation of the collagenases MMP1, MMP2 and MMP13, and thereby facilitates cell migration and tumor cell invasion. Promotes fibroblast migration and proliferation, and thereby contributes to cutaneous wound healing.',NULL,NULL,NULL,NULL,NULL),(1178,'UniProt Function',NULL,1343,NULL,'Guanine nucleotide exchange factor (GEF) which may activate RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.',NULL,NULL,NULL,NULL,NULL),(1179,'UniProt Function',NULL,1344,NULL,'Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs. Widely used as target of antiviral and chemotherapeutic agents.',NULL,NULL,NULL,NULL,NULL),(1180,'UniProt Function',NULL,1345,NULL,'Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA. In cooperation with TFIP11 seem to be involved in the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns.',NULL,NULL,NULL,NULL,NULL),(1181,'UniProt Function',NULL,1347,NULL,'Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway (PubMed:24732912). Acts by determining HSPA8/Hsc70\'s ATPase and polypeptide-binding activities (PubMed:24732912). Can also act independently of HSPA8/Hsc70: together with DNAJB12, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers (PubMed:27916661). While stabilization of nascent channel proteins is dependent on HSPA8/Hsc70, the process of oligomerization of channel subunits is independent of HSPA8/Hsc70 (PubMed:27916661). When overexpressed, forms membranous structures together with DNAJB12 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear (PubMed:24732912).',NULL,NULL,NULL,NULL,NULL),(1182,'UniProt Function',NULL,1347,NULL,'(Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:21673190, PubMed:24675744).',NULL,NULL,NULL,NULL,NULL),(1183,'UniProt Function',NULL,1348,NULL,'Plays a role in the formation of the central complex of ciliary and flagellar axonemes.',NULL,NULL,NULL,NULL,NULL),(1184,'UniProt Function',NULL,1349,NULL,'May function as a co-chaperone.',NULL,NULL,NULL,NULL,NULL),(1185,'UniProt Function',NULL,1350,NULL,'Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity).',NULL,NULL,NULL,NULL,NULL),(1186,'UniProt Function',NULL,1351,NULL,'Functions as a transcriptional repressor. May repress OTX2-mediated transactivation by forming a heterodimer with OTX2 on the P3C (5\'-TAATCCGATTA-3\') sequence. Required for brain development (By similarity).',NULL,NULL,NULL,NULL,NULL),(1187,'UniProt Function',NULL,1352,NULL,'Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I.',NULL,NULL,NULL,NULL,NULL),(1188,'UniProt Function',NULL,1353,NULL,'Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I.',NULL,NULL,NULL,NULL,NULL),(1189,'UniProt Function',NULL,1354,NULL,'Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.',NULL,NULL,NULL,NULL,NULL),(1190,'UniProt Function',NULL,1355,NULL,'Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission.',NULL,NULL,NULL,NULL,NULL),(1191,'UniProt Function',NULL,1356,NULL,'Stimulates the ATPase activity of several Hsp70-type chaperones. This ability is enhanced by iron-binding. The iron-bound form is redox-active and can function as electron carrier. Plays a role in the diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta).',NULL,NULL,NULL,NULL,NULL),(1192,'UniProt Function',NULL,1357,NULL,'Endoplasmic reticulum disulfide reductase involved both in the correct folding of proteins and degradation of misfolded proteins. Required for efficient folding of proteins in the endoplasmic reticulum by catalyzing the removal of non-native disulfide bonds formed during the folding of proteins, such as LDLR. Also involved in endoplasmic reticulum-associated degradation (ERAD) by reducing incorrect disulfide bonds in misfolded glycoproteins recognized by EDEM1. Interaction with HSPA5 is required its activity, not for the disulfide reductase activity, but to facilitate the release of DNAJC10 from its substrate. Promotes apoptotic signaling pathway in response to endoplasmic reticulum stress.',NULL,NULL,NULL,NULL,NULL),(1193,'UniProt Function',NULL,1359,NULL,'Plays a role in neuronal proliferation and differentiation (PubMed:25281927). Plays a role in the accumulation of cellular cholesterol (By similarity). Involved in intracellular lipid droplet formation (PubMed:25281927). May contribute to cholesterol homeostasis in neuronal cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(1194,'UniProt Function',NULL,1360,NULL,'Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner (PubMed:11006133). Following transinteraction, ligand cells produce mechanical force that depends of a clathrin-mediated endocytosis, requiring ligand ubiquitination, EPN1 interaction, and actin polymerisation; these events promote Notch receptor extracellular domain (NECD) transendocytosis and triggers Notch signaling through induction of cleavage, hyperphosphorylation, and nuclear accumulation of the intracellular domain of Notch receptors (NICD) (By similarity). Is required for embryonic development and maintenance of adult stem cells in many different tissues and immune systeme; the DLL1-induced Notch signaling is mediated through an intercellular communication that regulates cell lineage, cell specification, cell patterning and morphogenesis through effects on differentiation and proliferation (PubMed:11581320). Plays a role in brain development at different level, namely by regulating neuronal differentiation of neural precursor cells via cell-cell interaction, most likely through the lateral inhibitory system in an endogenous level dependent-manner. During neocortex development, Dll1-Notch signaling transmission is mediated by dynamic interactions between intermediate neurogenic progenitors and radial glia; the cell-cell interactions are mediated via dynamic and transient elongation processes, likely to reactivate/maintain Notch activity in neighboring progenitors, and coordinate progenitor cell division and differentiation across radial and zonal boundaries. During cerebellar development, regulates Bergmann glial monolayer formation and its morphological maturation through a Notch signaling pathway. At the retina and spinal cord level, regulates neurogenesis by preventing the premature differentiation of neural progenitors and also by maintaining progenitors in spinal cord through Notch signaling pathway. Also controls neurogenesis of the neural tube in a progenitor domain-specific fashion along the dorsoventral axis. Maintains quiescence of neural stem cells and plays a role as a fate determinant that segregates asymmetrically to one daughter cell during neural stem cells mitosis, resulting in neuronal differentiation in Dll1-inheriting cell. Plays a role in immune systeme development, namely the development of all T-cells and marginal zone (MZ) B-cells (By similarity). Blocks the differentiation of progenitor cells into the B-cell lineage while promoting the emergence of a population of cells with the characteristics of a T-cell/NK-cell precursor (PubMed:11581320). Also plays a role during muscle development. During early development, inhibits myoblasts differentiation from the medial dermomyotomal lip and later regulates progenitor cell differentiation. Directly modulates cell adhesion and basal lamina formation in satellite cells through Notch signaling. Maintains myogenic progenitors pool by suppressing differentiation through down-regulation of MYOD1 and is required for satellite cell homing and PAX7 expression. During craniofacial and trunk myogenesis suppresses differentiation of cranial mesoderm-derived and somite-derived muscle via MYOD1 regulation but in cranial mesoderm-derived progenitors, is neither required for satellite cell homing nor for PAX7 expression. Also plays a role during pancreatic cell development. During type B pancreatic cell development, may be involved in the initiation of proximodistal patterning in the early pancreatic epithelium. Stimulates multipotent pancreatic progenitor cells proliferation and pancreatic growth by maintaining HES1 expression and PTF1A protein levels. During fetal stages of development, is required to maintain arterial identity and the responsiveness of arterial endothelial cells for VEGFA through regulation of KDR activation and NRP1 expression. Controls sprouting angiogenesis and subsequent vertical branch formation througth regulation on tip cell differentiation. Negatively regulates goblet cell differentiation in intestine and controls secretory fat commitment through lateral inhibition in small intestine. Plays a role during inner ear development; negatively regulates auditory hair cell differentiation. Plays a role during nephron development through Notch signaling pathway. Regulates growth, blood pressure and energy homeostasis (By similarity).',NULL,NULL,NULL,NULL,NULL),(1195,'UniProt Function',NULL,1361,NULL,'May be involved in sexual development.',NULL,NULL,NULL,NULL,NULL),(1196,'UniProt Function',NULL,1362,NULL,'Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5\'-TAATTA-3\' consensus sequence for DNA-binding.',NULL,NULL,NULL,NULL,NULL),(1197,'UniProt Function',NULL,1365,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.',NULL,NULL,NULL,NULL,NULL),(1198,'UniProt Function',NULL,1366,NULL,'Protein phosphatase that mediates dephosphorylation of proteins phosphorylated on Tyr and Ser/Thr residues. In vitro, it can dephosphorylate p44-ERK1 (MAPK3) but not p54 SAPK-beta (MAPK10) in vitro. Able to enhance activation of JNK and p38 (MAPK14).',NULL,NULL,NULL,NULL,NULL),(1199,'UniProt Function',NULL,1368,NULL,'E3 ubiquitin-protein ligase which, in association with ADP-ribosyltransferase PARP9, plays a role in DNA damage repair and in interferon-mediated antiviral responses (PubMed:12670957, PubMed:19818714, PubMed:26479788, PubMed:23230272). Monoubiquitinates several histones, including histone H2A, H2B, H3 and H4 (PubMed:28525742). In response to DNA damage, mediates monoubiquitination of \'Lys-91\' of histone H4 (H4K91ub1) (PubMed:19818714). The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 \'Lys-20\' methylation (H4K20me) (PubMed:19818714). PARP1-dependent PARP9-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites (PubMed:23230272). By monoubiquitinating histone H2B HIST1H2BH/H2BJ and thereby promoting chromatin remodeling, positively regulates STAT1-dependent interferon-stimulated gene transcription and thus STAT1-mediated control of viral replication (PubMed:26479788). Independently of its catalytic activity, promotes the sorting of chemokine receptor CXCR4 from early endosome to lysosome following CXCL12 stimulation by reducing E3 ligase ITCH activity and thus ITCH-mediated ubiquitination of endosomal sorting complex required for transport ESCRT-0 components HGS and STAM (PubMed:24790097). In addition, required for the recruitment of HGS and STAM to early endosomes (PubMed:24790097). In association with PARP9, plays a role in antiviral responses by mediating \'Lys-48\'-linked ubiquitination of encephalomyocarditis virus (EMCV) and human rhinovirus (HRV) C3 proteases and thus promoting their proteosomal-mediated degradation (PubMed:26479788).',NULL,NULL,NULL,NULL,NULL),(1200,'UniProt Function',NULL,1369,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-2 GABA receptor could play a role in retinal neurotransmission.',NULL,NULL,NULL,NULL,NULL),(1201,'UniProt Function',NULL,1370,NULL,'Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2.',NULL,NULL,NULL,NULL,NULL),(1202,'UniProt Function',NULL,1371,NULL,'Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation (PubMed:23862974, PubMed:28157540). Involved in the regulation of both caspase-dependent apoptosis and caspase-independent cell death (PubMed:15178406). In the skin, it plays a predominant role in suppressing caspase-dependent apoptosis in response to UV stress in a range of dermal cell types (PubMed:28157540).',NULL,NULL,NULL,NULL,NULL),(1203,'UniProt Function',NULL,1372,NULL,'Dual specificity phosphatase able to dephosphorylate phosphotyrosine, phosphoserine and phosphothreonine residues, with a preference for phosphotyrosine as a substrate.',NULL,NULL,NULL,NULL,NULL),(1204,'UniProt Function',NULL,1373,NULL,'Involved in the inactivation of MAP kinases. Dephosphorylates ERK, JNK and p38 MAP-kinases.',NULL,NULL,NULL,NULL,NULL),(1205,'UniProt Function',NULL,1374,NULL,'May dephosphorylate MAPK13, ATF2, ERBB3, PDGFRB and SNX6 (PubMed:22792334).',NULL,NULL,NULL,NULL,NULL),(1206,'UniProt Function',NULL,1374,NULL,'Isoform 3: May play a role in the regulation of oligodendrocyte differentiation. May play a role in the regulation of myelin formation (By similarity). Involved in the regulation of Erk1/2 phosphorylation in Schwann cells; the signaling may be linked to the regulation of myelination (By similarity).',NULL,NULL,NULL,NULL,NULL),(1207,'UniProt Function',NULL,1376,NULL,'Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine. In vitro, dephosphorylates p-nitrophenyl phosphate (pNPP).',NULL,NULL,NULL,NULL,NULL),(1208,'UniProt Function',NULL,1377,NULL,'Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs.',NULL,NULL,NULL,NULL,NULL),(1209,'UniProt Function',NULL,1378,NULL,'Dual specificity phosphatase that dephosphorylates MAP kinase MAPK1/ERK2 on both \'Thr-183\' and \'Tyr-185\', regulating its activity during the meiotic cell cycle.',NULL,NULL,NULL,NULL,NULL),(1210,'UniProt Function',NULL,1379,NULL,'Involved in transcriptional regulation. May regulate microRNA (miRNA) expression.',NULL,NULL,NULL,NULL,NULL),(1211,'UniProt Function',NULL,1380,NULL,'Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ).',NULL,NULL,NULL,NULL,NULL),(1212,'UniProt Function',NULL,1381,NULL,'May act as Rab effector protein and play a role in vesicle trafficking.',NULL,NULL,NULL,NULL,NULL),(1213,'UniProt Function',NULL,1382,NULL,'Transcriptional regulator. Recognizes and binds to the DNA sequence 5\'-GCGGGGGCG-3\' (GSG). Activates the transcription of target genes whose products are required for mitogenesis and differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(1214,'UniProt Function',NULL,1383,NULL,'Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylation on the NODD site by EGLN3 appears to require prior hydroxylation on the CODD site. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN3 is the most important isozyme in limiting physiological activation of HIFs (particularly HIF2A) in hypoxia. Also hydroxylates PKM in hypoxia, limiting glycolysis. Under normoxia, hydroxylates and regulates the stability of ADRB2. Regulator of cardiomyocyte and neuronal apoptosis. In cardiomyocytes, inhibits the anti-apoptotic effect of BCL2 by disrupting the BAX-BCL2 complex. In neurons, has a NGF-induced proapoptotic effect, probably through regulating CASP3 activity. Also essential for hypoxic regulation of neutrophilic inflammation. Plays a crucial role in DNA damage response (DDR) by hydroxylating TELO2, promoting its interaction with ATR which is required for activation of the ATR/CHK1/p53 pathway. Target proteins are preferentially recognized via a LXXLAP motif.',NULL,NULL,NULL,NULL,NULL),(1215,'UniProt Function',NULL,1384,NULL,'Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). Required for nonsense-mediated mRNA decay (NMD); may act in conjunction with UPF2 to divert mRNAs from translation to the NMD pathway (PubMed:17468741). May interact with MCM7 and EPAS1 and regulate the proteasome-mediated degradation of these proteins (PubMed:17310990, PubMed:17324924).',NULL,NULL,NULL,NULL,NULL),(1216,'UniProt Function',NULL,1385,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.',NULL,NULL,NULL,NULL,NULL),(1217,'UniProt Function',NULL,1386,NULL,'By generating PPi, plays a role in regulating pyrophosphate levels, and functions in bone mineralization and soft tissue calcification. PPi inhibits mineralization by binding to nascent hydroxyapatite (HA) crystals, thereby preventing further growth of these crystals. Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5\' triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate and diadenosine polyphosphates, and also 3\',5\'-cAMP to AMP. May also be involved in the regulation of the availability of nucleotide sugars in the endoplasmic reticulum and Golgi, and the regulation of purinergic signaling. Appears to modulate insulin sensitivity and function.',NULL,NULL,NULL,NULL,NULL),(1218,'UniProt Function',NULL,1387,NULL,'Guanine nucleotide exchange factor (GEF) for Ras and Rap1.',NULL,NULL,NULL,NULL,NULL),(1219,'UniProt Function',NULL,1388,NULL,'Endo/exonuclease with nicking activity towards supercoiled DNA, a preference for single-stranded DNA and 5\'-3\' exonuclease activity.',NULL,NULL,NULL,NULL,NULL),(1220,'UniProt Function',NULL,1389,NULL,'Non-catalytic component of the RNA exosome complex which has 3\'->5\' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding \'pervasive\' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3\' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC1 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC6 and EXOSC8.',NULL,NULL,NULL,NULL,NULL),(1221,'UniProt Function',NULL,1390,NULL,'Non-catalytic component of the RNA exosome complex which has 3\'->5\' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding \'pervasive\' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3\' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC8 binds to ARE-containing RNAs.',NULL,NULL,NULL,NULL,NULL),(1222,'UniProt Function',NULL,1391,NULL,'Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:28132690, PubMed:28148688). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489).',NULL,NULL,NULL,NULL,NULL),(1223,'UniProt Function',NULL,1393,NULL,'One HIP oligomer binds the ATPase domains of at least two HSC70 molecules dependent on activation of the HSC70 ATPase by HSP40. Stabilizes the ADP state of HSC70 that has a high affinity for substrate protein. Through its own chaperone activity, it may contribute to the interaction of HSC70 with various target proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(1224,'UniProt Function',NULL,1401,NULL,'Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity).',NULL,NULL,NULL,NULL,NULL),(1225,'UniProt Function',NULL,1402,NULL,'Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as lactate.',NULL,NULL,NULL,NULL,NULL),(1226,'UniProt Function',NULL,1405,NULL,'Mitochondrial protein-lysine N-methyltransferase that promotes chronic pain (PubMed:29444090). Involved in persistent inflammatory and neuropathic pain: methyltransferase activity in the mitochondria of sensory neurons promotes chronic pain via a pathway that depends on the production of reactive oxygen species (ROS) and on the engagement of spinal cord microglia (PubMed:29444090). Protein-lysine N-methyltransferase activity is dependent on S-adenosyl-L-methionine (PubMed:29444090). Target proteins are unknown (PubMed:29444090).',NULL,NULL,NULL,NULL,NULL),(1227,'UniProt Function',NULL,1411,NULL,'Acts as a chemokine-like protein by regulating cell proliferation and migration through activation of G protein-coupled receptors (GPCRs), such as S1PR2 and FPR2 (By similarity). Stimulates chemotactic migration of macrophages mediated by the MAPK3/ERK1 and AKT1 pathway (By similarity). Blocks TNFSF11/RANKL-induced osteoclast formation from macrophages by inhibiting up-regulation of osteoclast fusogenic and differentiation genes (By similarity). Stimulation of macrophage migration and inhibition of osteoclast formation is mediated via GPCR FPR2 (By similarity). Acts as an adipokine by negatively regulating vascular smooth muscle cell (VSMC) proliferation and migration in response to platelet-derived growth factor stimulation via GPCR S1PR2 and G protein GNA12/GNA13-transmitted RHOA signaling (By similarity). Inhibits injury-induced cell proliferation and neointima formation in the femoral arteries (By similarity).',NULL,NULL,NULL,NULL,NULL),(1228,'UniProt Function',NULL,1420,NULL,'Plays a role in erythroid differentiation (PubMed:26968549). Involved in cell proliferation and tumor cell growth suppression (PubMed:28594398). Involved in the metabolic reprogramming of cancer cells in a PDK4-dependent manner (PubMed:28594398).',NULL,NULL,NULL,NULL,NULL),(1229,'UniProt Function',NULL,1440,NULL,'Synthesis and degradation of fructose 2,6-bisphosphate.',NULL,NULL,NULL,NULL,NULL),(1230,'UniProt Function',NULL,1456,NULL,'Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.',NULL,NULL,NULL,NULL,NULL),(1231,'UniProt Function',NULL,1457,NULL,'Factor Xa is a vitamin K-dependent glycoprotein that converts prothrombin to thrombin in the presence of factor Va, calcium and phospholipid during blood clotting.',NULL,NULL,NULL,NULL,NULL),(1232,'UniProt Function',NULL,1461,NULL,'Acts as a regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) nuclear localization.',NULL,NULL,NULL,NULL,NULL),(1233,'UniProt Function',NULL,1462,NULL,'Involved in ceramide synthesis.',NULL,NULL,NULL,NULL,NULL),(1234,'UniProt Function',NULL,1464,NULL,'Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin.',NULL,NULL,NULL,NULL,NULL),(1235,'UniProt Function',NULL,1467,NULL,'May be involved in RNA biogenesis.',NULL,NULL,NULL,NULL,NULL),(1236,'UniProt Function',NULL,1470,NULL,'Probable transcription factor involved in muscle spindle development.',NULL,NULL,NULL,NULL,NULL),(1237,'UniProt Function',NULL,1471,NULL,'Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene.',NULL,NULL,NULL,NULL,NULL),(1238,'UniProt Function',NULL,1472,NULL,'Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN2 is involved in regulating hypoxia tolerance and apoptosis in cardiac and skeletal muscle. Also regulates susceptibility to normoxic oxidative neuronal death. Links oxygen sensing to cell cycle and primary cilia formation by hydroxylating the critical centrosome component CEP192 which promotes its ubiquitination and subsequent proteasomal degradation. Hydroxylates IKBKB, mediating NF-kappaB activation in hypoxic conditions. Target proteins are preferentially recognized via a LXXLAP motif.',NULL,NULL,NULL,NULL,NULL),(1239,'UniProt Function',NULL,1473,NULL,'SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A2 is transcriptionally active but its transcription activity is not enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex).',NULL,NULL,NULL,NULL,NULL),(1240,'UniProt Function',NULL,1474,NULL,'Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).',NULL,NULL,NULL,NULL,NULL),(1241,'UniProt Function',NULL,1475,NULL,'Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family.',NULL,NULL,NULL,NULL,NULL),(1242,'UniProt Function',NULL,1476,NULL,'Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other proenzymes including chymotrypsinogen, procarboxypeptidases, and proelastases.',NULL,NULL,NULL,NULL,NULL),(1243,'UniProt Function',NULL,1477,NULL,'Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds with a low affinity EFNA3 and EFNA4 and with a high affinity to EFNA1 which most probably constitutes its cognate/functional ligand. Upon activation by EFNA1 induces cell attachment to the extracellular matrix inhibiting cell spreading and motility through regulation of ILK and downstream RHOA and RAC. Plays also a role in angiogenesis and regulates cell proliferation. May play a role in apoptosis.',NULL,NULL,NULL,NULL,NULL),(1244,'UniProt Function',NULL,1478,NULL,'Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and actin bundling activities depending on the context. Displays barbed-end actin capping activity when associated with ABI1, thereby regulating actin-based motility process: capping activity is auto-inhibited and inhibition is relieved upon ABI1 interaction. Also shows actin bundling activity when associated with BAIAP2, enhancing BAIAP2-dependent membrane extensions and promoting filopodial protrusions. Involved in the regulation of processes such as axonal filopodia growth, stereocilia length, dendritic cell migration and cancer cell migration and invasion. Acts as a regulator of axonal filopodia formation in neurons: in the absence of neurotrophic factors, negatively regulates axonal filopodia formation via actin-capping activity. In contrast, it is phosphorylated in the presence of BDNF leading to inhibition of its actin-capping activity and stimulation of filopodia formation. Component of a complex with WHRN and MYO15A that localizes at stereocilia tips and is required for elongation of the stereocilia actin core. Indirectly involved in cell cycle progression; its degradation following ubiquitination being required during G2 phase to promote cell shape changes.',NULL,NULL,NULL,NULL,NULL),(1245,'UniProt Function',NULL,1479,NULL,'Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Preferentially hydrolyzes the basic residues Arg and Lys.',NULL,NULL,NULL,NULL,NULL),(1246,'UniProt Function',NULL,1480,NULL,'Exonuclease required for double-strand breaks resection and efficient homologous recombination. Plays a key role in controlling the initial steps of chromosomal break repair, it is recruited to chromatin in a damage-dependent manner and functionally interacts with the MRN complex to accelerate resection through its 3\'-5\' exonuclease activity, which efficiently processes double-stranded DNA substrates containing nicks.',NULL,NULL,NULL,NULL,NULL),(1247,'UniProt Function',NULL,1481,NULL,'Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(1248,'UniProt Function',NULL,1482,NULL,'5\'->3\' double-stranded DNA exonuclease which may also possess a cryptic 3\'->5\' double-stranded DNA exonuclease activity. Functions in DNA mismatch repair (MMR) to excise mismatch-containing DNA tracts directed by strand breaks located either 5\' or 3\' to the mismatch. Also exhibits endonuclease activity against 5\'-overhanging flap structures similar to those generated by displacement synthesis when DNA polymerase encounters the 5\'-end of a downstream Okazaki fragment. Required for somatic hypermutation (SHM) and class switch recombination (CSR) of immunoglobulin genes. Essential for male and female meiosis.',NULL,NULL,NULL,NULL,NULL),(1249,'UniProt Function',NULL,1483,NULL,'Non-catalytic component of the RNA exosome complex which has 3\'->5\' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding \'pervasive\' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3\' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC4 binds to ARE-containing RNAs.',NULL,NULL,NULL,NULL,NULL),(1250,'UniProt Function',NULL,1484,NULL,'Non-catalytic component of the RNA exosome complex which has 3\'->5\' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding \'pervasive\' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3\' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes.',NULL,NULL,NULL,NULL,NULL),(1251,'UniProt Function',NULL,1485,NULL,'Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(1252,'UniProt Function',NULL,1486,NULL,'Probable glycosyltransferase.',NULL,NULL,NULL,NULL,NULL),(1253,'UniProt Function',NULL,1487,NULL,'Required to maintain the integrity of photoreceptor cells.',NULL,NULL,NULL,NULL,NULL),(1254,'UniProt Function',NULL,1492,NULL,'Stress-inducible actin-binding protein that plays a role in synaptic and cognitive functions by modulating actin filamentous (F-actin) dynamics. Mediates polymerization of globular actin to F-actin. Also binds to, stabilizes and bundles F-actin. Involved in synaptic function by regulating neurite outgrowth in an actin-dependent manner and for the acquisition of hippocampus-dependent cognitive function, such as learning and long-term memory (By similarity). Plays a role in the actin and microtubule cytoskeleton organization; negatively regulates focal adhesion (FA) assembly promoting malignant glial cell migration in an actin-, microtubule- and MAP1A-dependent manner (PubMed:20543869). Also involved in neuroblastoma G1/S phase cell cycle progression and cell proliferation inhibition by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a COMMD1- and actin-dependent manner (PubMed:10564580, PubMed:28604741). May play a role in tumor development (PubMed:10564580).',NULL,NULL,NULL,NULL,NULL),(1255,'UniProt Function',NULL,1493,NULL,'Chromatin-associated protein required for PCNA loading on replication sites. Promotes S-phase entry and DNA synthesis (PubMed:24561620). May directly function at replication forks, explaining why Simian virus 40 (SV40) interacts with FAM111A to overcome host range restriction (PubMed:23093934).',NULL,NULL,NULL,NULL,NULL),(1256,'UniProt Function',NULL,1496,NULL,'Involved in ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(1257,'UniProt Function',NULL,1497,NULL,'Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin.',NULL,NULL,NULL,NULL,NULL),(1258,'UniProt Function',NULL,1498,NULL,'The B chain of factor XIII is not catalytically active, but is thought to stabilize the A subunits and regulate the rate of transglutaminase formation by thrombin.',NULL,NULL,NULL,NULL,NULL),(1259,'UniProt Function',NULL,1501,NULL,'Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex).',NULL,NULL,NULL,NULL,NULL),(1260,'UniProt Function',NULL,1504,NULL,'May play a role in Cajal bodies formation.',NULL,NULL,NULL,NULL,NULL),(1261,'UniProt Function',NULL,1506,NULL,'Acts as a nuclear transcription factor that positively regulates the expression of heat shock genes. Binds to heat shock promoter elements (HSE).',NULL,NULL,NULL,NULL,NULL),(1262,'UniProt Function',NULL,1507,NULL,'S-adenosyl-L-methionin-dependent protein-lysine N-methyltransferase.',NULL,NULL,NULL,NULL,NULL),(1263,'UniProt Function',NULL,1524,NULL,'May play a role in the structure and strength of both muscle and bone.',NULL,NULL,NULL,NULL,NULL),(1264,'UniProt Function',NULL,1532,NULL,'May negatively regulate STAT3.',NULL,NULL,NULL,NULL,NULL),(1265,'UniProt Function',NULL,1547,NULL,'Synthesis and degradation of fructose 2,6-bisphosphate.',NULL,NULL,NULL,NULL,NULL),(1266,'UniProt Function',NULL,1548,NULL,'Functions in the early steps of protein synthesis of a small number of specific mRNAs. Acts by directing the binding of methionyl-tRNAi to 40S ribosomal subunits. In contrast to the eIF-2 complex, it binds methionyl-tRNAi to 40S subunits in a codon-dependent manner, whereas the eIF-2 complex binds methionyl-tRNAi to 40S subunits in a GTP-dependent manner.',NULL,NULL,NULL,NULL,NULL),(1267,'UniProt Function',NULL,1549,NULL,'Acts as a repressor of MYOD-dependent transcription, glucocorticoid receptor-dependent transcription, and muscle differentiation.',NULL,NULL,NULL,NULL,NULL),(1268,'UniProt Function',NULL,1550,NULL,'Interacts with EP300 and acts as a repressor of MYOD-dependent transcription and muscle differentiation. Inhibits EP300 histone acetyltransferase activity. Acts as a repressor of TGFB/SMAD transcriptional responses. May act as a repressor of the TGFB/SMAD3-dependent signaling by selectively blocking formation of TGFB-induced SMAD3-SMAD4 complex.',NULL,NULL,NULL,NULL,NULL),(1269,'UniProt Function',NULL,1551,NULL,'Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4.',NULL,NULL,NULL,NULL,NULL),(1270,'UniProt Function',NULL,1551,NULL,'E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 own transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(1271,'UniProt Function',NULL,1552,NULL,'Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.',NULL,NULL,NULL,NULL,NULL),(1272,'UniProt Function',NULL,1553,NULL,'Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).',NULL,NULL,NULL,NULL,NULL),(1273,'UniProt Function',NULL,1554,NULL,'SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex).',NULL,NULL,NULL,NULL,NULL),(1274,'UniProt Function',NULL,1555,NULL,'Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.',NULL,NULL,NULL,NULL,NULL),(1275,'UniProt Function',NULL,1556,NULL,'Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity.',NULL,NULL,NULL,NULL,NULL),(1276,'UniProt Function',NULL,1557,NULL,'Required for the assembly of a functional nuclear pore complex (NPC) on the surface of chromosomes as nuclei form at the end of mitosis. May initiate NPC assembly by binding to chromatin and recruiting the Nup107-160 subcomplex of the NPC. Also required for the localization of the Nup107-160 subcomplex of the NPC to the kinetochore during mitosis and for the completion of cytokinesis.',NULL,NULL,NULL,NULL,NULL),(1277,'UniProt Function',NULL,1558,NULL,'Endosome-associated protein that plays a role in membrane receptor sorting, cytokinesis and ciliogenesis (PubMed:23108400, PubMed:25278552, PubMed:27767179). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Involved in the regulation of cytokinesis; the function may involve PTPN13 and GIT1 (PubMed:23108400). Plays a role in the formation of cilia (PubMed:27767179). Involved in cargo protein localization, such as PKD2, at primary cilia (PubMed:27767179). Involved in the presentation of the tumor necrosis factor (TNF) receptor TNFRSF1A on the cell surface, and hence in the modulation of the TNF-induced apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(1278,'UniProt Function',NULL,1559,NULL,'Converts sphingomyelin to ceramide and phosphocholine (PubMed:12885774, PubMed:12671034, PubMed:15205117, PubMed:28292932). Has also phospholipase C activity and can cleave phosphocholine from palmitoyl lyso-phosphatidylcholine (PubMed:12885774). Does not have nucleotide pyrophosphatase activity (PubMed:12885774).',NULL,NULL,NULL,NULL,NULL),(1279,'UniProt Function',NULL,1560,NULL,'In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Could also be implicated in the prevention of platelet aggregation by hydrolyzing platelet-activating ADP to AMP. Hydrolyzes ATP and ADP equally well.',NULL,NULL,NULL,NULL,NULL),(1280,'UniProt Function',NULL,1563,NULL,'Caspase-like protease, which plays a central role in the chromosome segregation by cleaving the SCC1/RAD21 subunit of the cohesin complex at the onset of anaphase. During most of the cell cycle, it is inactivated by different mechanisms.',NULL,NULL,NULL,NULL,NULL),(1281,'UniProt Function',NULL,1564,NULL,'Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has phosphorylcholine-binding activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(1282,'UniProt Function',NULL,1565,NULL,'Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to catalyze the oxidation of the persulfide, once it has been transferred to a thiophilic acceptor, such as glutathione (R-SSH). Plays an important role in metabolic homeostasis in mitochondria by metabolizing hydrogen sulfide and preventing the accumulation of supraphysiological H(2)S levels that have toxic effects, due to the inhibition of cytochrome c oxidase. First described as a protein that can shuttle between the nucleus and the cytoplasm and suppress p53-induced apoptosis by sequestering the transcription factor RELA/NFKB3 in the cytoplasm and preventing its accumulation in the nucleus (PubMed:12398897).',NULL,NULL,NULL,NULL,NULL),(1283,'UniProt Function',NULL,1567,NULL,'Required for granulocyte differentiation and functionality of hematopoietic progenitor cells through the control of cell cycle progression and survival of hematopoietic progenitor cells.',NULL,NULL,NULL,NULL,NULL),(1284,'UniProt Function',NULL,1568,NULL,'Functions as a GTPase-activating protein (GAP) with a broad specificity.',NULL,NULL,NULL,NULL,NULL),(1285,'UniProt Function',NULL,1569,NULL,'Functions as a regulator of cell cycle progression by stabilizing the FBXO5 protein and promoting cyclin-A accumulation during interphase. May play a role in cytokinesis.',NULL,NULL,NULL,NULL,NULL),(1286,'UniProt Function',NULL,1570,NULL,'Granulins have possible cytokine-like activity. They may play a role in inflammation, wound repair, and tissue remodeling.',NULL,NULL,NULL,NULL,NULL),(1287,'UniProt Function',NULL,1570,NULL,'Granulin-4 promotes proliferation of the epithelial cell line A431 in culture while granulin-3 acts as an antagonist to granulin-4, inhibiting the growth.',NULL,NULL,NULL,NULL,NULL),(1288,'UniProt Function',NULL,1571,NULL,'Has chemotactic activity for neutrophils. May play a role in inflammation and exerts its effects on endothelial cells in an autocrine fashion. In vitro, the processed forms GRO-alpha(4-73), GRO-alpha(5-73) and GRO-alpha(6-73) show a 30-fold higher chemotactic activity.',NULL,NULL,NULL,NULL,NULL),(1289,'UniProt Function',NULL,1572,NULL,'Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments.',NULL,NULL,NULL,NULL,NULL),(1290,'UniProt Function',NULL,1573,NULL,'Functions as a calcium- and diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP (PubMed:15899849, PubMed:23908768). Activates the Erk/MAP kinase cascade (PubMed:15899849). Regulates T-cell/B-cell development, homeostasis and differentiation by coupling T-lymphocyte/B-lymphocyte antigen receptors to Ras (PubMed:10807788, PubMed:12839994). Regulates NK cell cytotoxicity and ITAM-dependent cytokine production by activation of Ras-mediated ERK and JNK pathways (PubMed:19933860). Functions in mast cell degranulation and cytokine secretion, regulating FcERI-evoked allergic responses (By similarity). May also function in differentiation of other cell types (PubMed:12845332).',NULL,NULL,NULL,NULL,NULL),(1291,'UniProt Function',NULL,1576,NULL,'Putative catalytic component of the RNA exosome complex which has 3\'->5\' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding \'pervasive\' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3\' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. EXOSC10 has 3\'-5\' exonuclease activity (By similarity). EXOSC10 is required for nucleolar localization of C1D and probably mediates the association of MTREX, C1D and MPP6 wth the RNA exosome involved in the maturation of 5.8S rRNA.',NULL,NULL,NULL,NULL,NULL),(1292,'UniProt Function',NULL,1577,NULL,'Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. Together with RAB11A, RAB3IP, RAB8A, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(1293,'UniProt Function',NULL,1578,NULL,'Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. In adipocytes, plays a crucial role in targeting SLC2A4 vesicle to the plasma membrane in response to insulin, perhaps directing the vesicle to the precise site of fusion (By similarity).',NULL,NULL,NULL,NULL,NULL),(1294,'UniProt Function',NULL,1579,NULL,'Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(1295,'UniProt Function',NULL,1580,NULL,'Tyrosine phosphatase that specifically dephosphorylates \'Tyr-142\' of histone H2AX (H2AXY142ph). \'Tyr-142\' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1 (PubMed:19234442, PubMed:19351884). Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1, and seems to coactivate SIX2, SIX4 and SIX5. The repression of precursor cell proliferation in myoblasts by SIX1 is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex and seems to be dependent on EYA3 phosphatase activity (By similarity). May be involved in development of the eye.',NULL,NULL,NULL,NULL,NULL),(1296,'UniProt Function',NULL,1582,NULL,'May play a role in microtubule organization. May play a role in cell spreading and cell migration of epithelial cells; the function may involve the AKT1 signaling pathway.',NULL,NULL,NULL,NULL,NULL),(1297,'UniProt Function',NULL,1583,NULL,'Stimulates the release of gastrin and other gastrointestinal hormones (By similarity). Contributes to the perception of prurient stimuli and to the transmission of itch signals in the spinal cord that promote scratching behavior. Contributes primarily to nonhistaminergic itch sensation. Contributes to long-term fear memory, but not normal spatial memory. Contributes to the regulation of food intake (By similarity).',NULL,NULL,NULL,NULL,NULL),(1298,'UniProt Function',NULL,1586,NULL,'May participate in mRNA transport in the cytoplasm (By similarity). Critical component of the oxidative stress-induced survival signaling. Activates src family kinases and acts as a scaffolding protein enabling src family kinases to phosphorylate and activate PI3-kinase. Binds RNA and promotes the secretion of IGF-II. May play a pivotal role in the progression of scirrhous-type gastric cancer by supporting cancer cell survival in environments with various oxidative stresses.',NULL,NULL,NULL,NULL,NULL),(1299,'UniProt Function',NULL,1589,NULL,'Plays a role in fertilization through the acrosome reaction.',NULL,NULL,NULL,NULL,NULL),(1300,'UniProt Function',NULL,1591,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(1301,'UniProt Function',NULL,1592,NULL,'Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.',NULL,NULL,NULL,NULL,NULL),(1302,'UniProt Function',NULL,1593,NULL,'ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (By similarity). Plays a role in membrane trafficking between the plasma membrane and endosomes (PubMed:17233914). Important for the internalization of GLUT4. Required for fusion of myoblasts to skeletal muscle myotubes. Required for normal translocation of FER1L5 to the plasma membrane (By similarity). Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by constraining caveolae at the cell membrane (PubMed:25588833).',NULL,NULL,NULL,NULL,NULL),(1303,'UniProt Function',NULL,1594,NULL,'ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (PubMed:25686250). In vitro causes tubulation of endocytic membranes (PubMed:24019528). Binding to phosphatidic acid induces its membrane tubulation activity (By similarity). Plays a role in endocytic transport. Involved in early endosome to recycling endosome compartment (ERC), retrograde early endosome to Golgi, and endosome to plasma membrane (rapid recycling) protein transport. Involved in the regulation of Golgi maintenance and morphology (PubMed:16251358, PubMed:17233914, PubMed:19139087, PubMed:23781025). Involved in the recycling of internalized D1 dopamine receptor (PubMed:21791287). Plays a role in cardiac protein trafficking probably implicating ANK2 (PubMed:20489164). Involved in the ventricular membrane targeting of SLC8A1 and CACNA1C and probably the atrial membrane localization of CACNA1GG and CACNA1H implicated in the regulation of atrial myocyte excitability and cardiac conduction (By similarity). In conjunction with EHD4 may be involved in endocytic trafficking of KDR/VEGFR2 implicated in control of glomerular function (By similarity). Involved in the rapid recycling of integrin beta-3 implicated in cell adhesion maintenance (PubMed:23781025). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle, an early step in cilium biogenesis; possibly sharing redundant functions with EHD1 (PubMed:25686250).',NULL,NULL,NULL,NULL,NULL),(1304,'UniProt Function',NULL,1595,NULL,'RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:9388245, PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:9388245, PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).',NULL,NULL,NULL,NULL,NULL),(1305,'UniProt Function',NULL,1595,NULL,'(Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426).',NULL,NULL,NULL,NULL,NULL),(1306,'UniProt Function',NULL,1596,NULL,'SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A3 is transcriptionally active but its transcription activity is not enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex).',NULL,NULL,NULL,NULL,NULL),(1307,'UniProt Function',NULL,1597,NULL,'SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex) (PubMed:7638163). In embryonic stem cells, the elongin BC complex is recruited by EPOP to Polycomb group (PcG) target genes in order generate genomic region that display both active and repressive chromatin properties, an important feature of pluripotent stem cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(1308,'UniProt Function',NULL,1597,NULL,'The elongin BC complex seems to be involved as an adapter protein in the proteasomal degradation of target proteins via different E3 ubiquitin ligase complexes, including the von Hippel-Lindau ubiquitination complex CBC(VHL). By binding to BC-box motifs it seems to link target recruitment subunits, like VHL and members of the SOCS box family, to Cullin/RBX1 modules that activate E2 ubiquitination enzymes.',NULL,NULL,NULL,NULL,NULL),(1309,'UniProt Function',NULL,1598,NULL,'Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis.',NULL,NULL,NULL,NULL,NULL),(1310,'UniProt Function',NULL,1599,NULL,'Regulates the ligand-dependent activation of STAT3.',NULL,NULL,NULL,NULL,NULL),(1311,'UniProt Function',NULL,1599,NULL,'Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4.',NULL,NULL,NULL,NULL,NULL),(1312,'UniProt Function',NULL,1600,NULL,'Isoform 1 transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter.',NULL,NULL,NULL,NULL,NULL),(1313,'UniProt Function',NULL,1600,NULL,'Isoform 2 may function in repression of RUNX1-mediated transactivation.',NULL,NULL,NULL,NULL,NULL),(1314,'UniProt Function',NULL,1601,NULL,'Binds RNA. Seems to recognize a GAAA motif. Can bind to its own 3\'-UTR, the FOS 3\'-UTR and the ID 3\'-UTR.',NULL,NULL,NULL,NULL,NULL),(1315,'UniProt Function',NULL,1602,NULL,'Transcriptional activator that binds and transactivates ETS sequences containing the consensus nucleotide core sequence GGA[AT]. Acts synergistically with POU2F3 to transactivate the SPRR2A promoter and with RUNX1 to transactivate the ANGPT1 promoter. Also transactivates collagenase, CCL20, CLND7, FLG, KRT8, NOS2, PTGS2, SPRR2B, TGFBR2 and TGM3 promoters. Represses KRT4 promoter activity. Involved in mediating vascular inflammation. May play an important role in epithelial cell differentiation and tumorigenesis. May be a critical downstream effector of the ERBB2 signaling pathway. May be associated with mammary gland development and involution. Plays an important role in the regulation of transcription with TATA-less promoters in preimplantation embryos, which is essential in preimplantation development (By similarity).',NULL,NULL,NULL,NULL,NULL),(1316,'UniProt Function',NULL,1603,NULL,'Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity).',NULL,NULL,NULL,NULL,NULL),(1317,'UniProt Function',NULL,1604,NULL,'Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2.',NULL,NULL,NULL,NULL,NULL),(1318,'UniProt Function',NULL,1605,NULL,'Accepts electrons from ETF and reduces ubiquinone.',NULL,NULL,NULL,NULL,NULL),(1319,'UniProt Function',NULL,1606,NULL,'Binds to DNA sequences containing the consensus pentanucleotide 5\'-CGGA[AT]-3\'.',NULL,NULL,NULL,NULL,NULL),(1320,'UniProt Function',NULL,1607,NULL,'Transcriptional regulator.',NULL,NULL,NULL,NULL,NULL),(1321,'UniProt Function',NULL,1608,NULL,'Transcription factor. Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts. May control the differentiation, survival and proliferation of lymphoid cells. May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion.',NULL,NULL,NULL,NULL,NULL),(1322,'UniProt Function',NULL,1609,NULL,'Transcriptional activator that binds to the enhancer of the adenovirus E1A gene; the core-binding sequence is 5\'[AC]GGA[AT]GT-3\'.',NULL,NULL,NULL,NULL,NULL),(1323,'UniProt Function',NULL,1610,NULL,'Transcriptional repressor; binds to the DNA sequence 5\'-CCGGAAGT-3\'. Plays a role in hematopoiesis and malignant transformation.',NULL,NULL,NULL,NULL,NULL),(1324,'UniProt Function',NULL,1611,NULL,'Transcriptional repressor; binds to the DNA sequence 5\'-CCGGAAGT-3\'. Isoform A does not seem to have a repressor activity. Isoform C does not seem to have a repressor activity.',NULL,NULL,NULL,NULL,NULL),(1325,'UniProt Function',NULL,1612,NULL,'Protein-lysine methyltransferase that selectively trimethylates the flavoprotein ETFB in mitochondria (PubMed:25023281, PubMed:25416781). Thereby, may negatively regulate the function of ETFB in electron transfer from Acyl-CoA dehydrogenases to the main respiratory chain (PubMed:25416781).',NULL,NULL,NULL,NULL,NULL),(1326,'UniProt Function',NULL,1613,NULL,'Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis.',NULL,NULL,NULL,NULL,NULL),(1327,'UniProt Function',NULL,1614,NULL,'Functions as a cation- and diacylglycerol (DAG)-regulated nucleotide exchange factor activating Ras through the exchange of bound GDP for GTP. May function in mast cells differentiation.',NULL,NULL,NULL,NULL,NULL),(1328,'UniProt Function',NULL,1616,NULL,'Non-catalytic component of the RNA exosome complex which has 3\'->5\' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding \'pervasive\' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3\' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC9 binds to ARE-containing RNAs.',NULL,NULL,NULL,NULL,NULL),(1329,'UniProt Function',NULL,1617,NULL,'Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(1330,'UniProt Function',NULL,1618,NULL,'Non-catalytic component of the RNA exosome complex which has 3\'->5\' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding \'pervasive\' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3\' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes.',NULL,NULL,NULL,NULL,NULL),(1331,'UniProt Function',NULL,1619,NULL,'Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates \'Tyr-142\' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. \'Tyr-142\' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(1332,'UniProt Function',NULL,1620,NULL,'Non-catalytic component of the RNA exosome complex which has 3\'->5\' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding \'pervasive\' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3\' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes.',NULL,NULL,NULL,NULL,NULL),(1333,'UniProt Function',NULL,1621,NULL,'May act as Rab effector protein and play a role in vesicle trafficking.',NULL,NULL,NULL,NULL,NULL),(1334,'UniProt Function',NULL,1622,NULL,'Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates \'Lys-27\' of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate \'Lys-27\' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH2-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase activity and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation.',NULL,NULL,NULL,NULL,NULL),(1335,'UniProt Function',NULL,1623,NULL,'Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates \'Lys-9\' (H3K9me) and \'Lys-27\' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate \'Lys-27\' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Displays a preference for substrates with less methylation, loses activity when progressively more methyl groups are incorporated into H3K27, H3K27me0 > H3K27me1 > H3K27me2 (PubMed:22323599). Compared to EZH1-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A and retinoic acid target genes. EZH2 can also methylate non-histone proteins such as the transcription factor GATA4 and the nuclear receptor RORA. Regulates the circadian clock via histone methylation at the promoter of the circadian genes. Essential for the CRY1/2-mediated repression of the transcriptional activation of PER1/2 by the CLOCK-ARNTL/BMAL1 heterodimer; involved in the di and trimethylation of \'Lys-27\' of histone H3 on PER1/2 promoters which is necessary for the CRY1/2 proteins to inhibit transcription.',NULL,NULL,NULL,NULL,NULL),(1336,'UniProt Function',NULL,1624,NULL,'May play a role in estrogen action.',NULL,NULL,NULL,NULL,NULL),(1337,'UniProt Function',NULL,1625,NULL,'Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(1338,'UniProt Function',NULL,1627,NULL,'Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division.',NULL,NULL,NULL,NULL,NULL),(1339,'UniProt Function',NULL,1628,NULL,'Positively stimulates PRMT1-induced protein arginine methylation (PubMed:28040436). Involved in skeletal homeostasis (By similarity). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). Promotes colorectal cancer cell malignancy (PubMed:28040436).',NULL,NULL,NULL,NULL,NULL),(1340,'UniProt Function',NULL,1629,NULL,'Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa.',NULL,NULL,NULL,NULL,NULL),(1341,'UniProt Function',NULL,1630,NULL,'Atypical histone H2B. Nucleosomes containing it are structurally and dynamically indistinguishable from those containing conventional H2B. However, unlike conventional H2B, does not recruit chromosome condensation factors and does not participate in the assembly of mitotic chromosomes. May be important for telomere function.',NULL,NULL,NULL,NULL,NULL),(1342,'UniProt Function',NULL,1631,NULL,'Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols (PubMed:20071337, PubMed:24108123). In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(1343,'UniProt Function',NULL,1632,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(1344,'UniProt Function',NULL,1633,NULL,'Plays an important role in endoplasmic reticulum-associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:18711132, PubMed:24215460). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). Involved in inhibition of lipid droplet degradation by binding to phospholipase PNPL2 and inhibiting its activity by promoting dissociation of PNPL2 from its endogenous activator, ABHD5 which inhibits the rate of triacylglycerol hydrolysis (PubMed:23297223).',NULL,NULL,NULL,NULL,NULL),(1345,'UniProt Function',NULL,1636,NULL,'Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016). Acts as a 5\'-3\' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3\'-flap annealing until it reaches and unhooks the ICL (PubMed:25430771). Acts at sites that have a 5\'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3\' flap (PubMed:25430771). Also has endonuclease activity toward 5\'-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866).',NULL,NULL,NULL,NULL,NULL),(1346,'UniProt Function',NULL,1638,NULL,'May play a role in actin reorganization. Links clathrin-mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking (PubMed:14676205, PubMed:27552051). Required for perinuclear sorting and insulin-regulated recycling of SLC2A4/GLUT4 in adipocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(1347,'UniProt Function',NULL,1639,NULL,'Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:2790960, PubMed:10805725, PubMed:27153536). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:2790960, PubMed:7679104, PubMed:8144591, PubMed:9419975, PubMed:15611079, PubMed:12297049, PubMed:27153536, PubMed:20837704). Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules (PubMed:27153536). May also activate the NF-kappa-B signaling cascade (PubMed:11116146). Also directly phosphorylates other proteins like RGS16, activating its GTPase activity and probably coupling the EGF receptor signaling to the G protein-coupled receptor signaling (PubMed:11602604). Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (PubMed:11483589). Plays a role in enhancing learning and memory performance (By similarity).',NULL,NULL,NULL,NULL,NULL),(1348,'UniProt Function',NULL,1639,NULL,'Isoform 2 may act as an antagonist of EGF action.',NULL,NULL,NULL,NULL,NULL),(1349,'UniProt Function',NULL,1639,NULL,'(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins.',NULL,NULL,NULL,NULL,NULL),(1350,'UniProt Function',NULL,1640,NULL,'ATP- and membrane-binding protein that probably controls membrane reorganization/tubulation upon ATP hydrolysis. Plays a role in early endosomal transport.',NULL,NULL,NULL,NULL,NULL),(1351,'UniProt Function',NULL,1641,NULL,'Probably involved in translation.',NULL,NULL,NULL,NULL,NULL),(1352,'UniProt Function',NULL,1642,NULL,'Histone methyltransferase that specifically mono- and dimethylates \'Lys-9\' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates \'Lys-27\' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of \'Lys-373\' of p53/TP53.',NULL,NULL,NULL,NULL,NULL),(1353,'UniProt Function',NULL,1643,NULL,'Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).',NULL,NULL,NULL,NULL,NULL),(1354,'UniProt Function',NULL,1643,NULL,'Deubiquitinates activated NOTCH1, promoting its nuclear import, thereby acting as a positive regulator of Notch signaling.',NULL,NULL,NULL,NULL,NULL),(1355,'UniProt Function',NULL,1644,NULL,'May play a role in neuron-specific RNA processing. Protects CDKN1A mRNA from decay by binding to its 3\'-UTR (By similarity). Binds to AU-rich sequences (AREs) of target mRNAs, including VEGF and FOS mRNA.',NULL,NULL,NULL,NULL,NULL),(1356,'UniProt Function',NULL,1645,NULL,'Endogenous ligand for the apelin receptor (APLNR) (PubMed:25639753, PubMed:28137936). Hormone required for mesendodermal differentiation, blood vessels formation and heart morphogenesis during early development and for adult cardiovascular homeostasis (PubMed:25639753, PubMed:28137936). Drives internalization of APLNR. Acts as a motogen by promoting mesendodermal cell migration during gastrulation by binding and activating APLNR. Acts as an early embryonic regulator of cellular movement with a role in migration and development of cardiac progenitor cells. May act as a chemoattractant for the activation of angioblast migration toward the embryonic midline, i.e. the position of the future vessel formation, during vasculogenesis. Positively regulates sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coronary blood vessel sprouting. Plays a role in placental vascular development; promotes placental trophoblast invasion and spiral artery remodeling in the uterus. Involved in the regulation of maternal cardiovascular homeostasis to prevent gestational hypertension and for potent cardioprotective functions during heart failure. Mediates myocardial contractility in an ERK1/2-dependent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(1357,'UniProt Function',NULL,1646,NULL,'Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:3(n-3) acyl-CoAs and C18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-, C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or no activity toward C22:0-, C24:0-, or C26:0-CoAs. May participate in the production of saturated and polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.',NULL,NULL,NULL,NULL,NULL),(1358,'UniProt Function',NULL,1647,NULL,'SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex) (PubMed:7821821). In embryonic stem cells, the elongin BC complex is recruited by EPOP to Polycomb group (PcG) target genes in order generate genomic region that display both active and repressive chromatin properties, an important feature of pluripotent stem cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(1359,'UniProt Function',NULL,1647,NULL,'The elongin BC complex seems to be involved as an adapter protein in the proteasomal degradation of target proteins via different E3 ubiquitin ligase complexes, including the von Hippel-Lindau ubiquitination complex CBC(VHL). By binding to BC-box motifs it seems to link target recruitment subunits, like VHL and members of the SOCS box family, to Cullin/RBX1 modules that activate E2 ubiquitination enzymes.',NULL,NULL,NULL,NULL,NULL),(1360,'UniProt Function',NULL,1648,NULL,'Transcription elongation factor implicated in the maintenance of proper chromatin structure in actively transcribed regions.',NULL,NULL,NULL,NULL,NULL),(1361,'UniProt Function',NULL,1649,NULL,'Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1.',NULL,NULL,NULL,NULL,NULL),(1362,'UniProt Function',NULL,1650,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its fusogenic properties. It can inhibit cell growth through decrease expression of cyclin B1 and increased expression of p21 in vitro.',NULL,NULL,NULL,NULL,NULL),(1363,'UniProt Function',NULL,1650,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(1364,'UniProt Function',NULL,1650,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(1365,'UniProt Function',NULL,1651,NULL,'Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells. Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia. Involved in the elongation of actin in stereocilia. In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation.',NULL,NULL,NULL,NULL,NULL),(1366,'UniProt Function',NULL,1652,NULL,'Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner (PubMed:20074560). Isoform beta-cx lacks ligand binding ability and has no or only very low ere binding activity resulting in the loss of ligand-dependent transactivation ability. DNA-binding by ESR1 and ESR2 is rapidly lost at 37 degrees Celsius in the absence of ligand while in the presence of 17 beta-estradiol and 4-hydroxy-tamoxifen loss in DNA-binding at elevated temperature is more gradual.',NULL,NULL,NULL,NULL,NULL),(1367,'UniProt Function',NULL,1654,NULL,'mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2.',NULL,NULL,NULL,NULL,NULL),(1368,'UniProt Function',NULL,1655,NULL,'May be involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(1369,'UniProt Function',NULL,1656,NULL,'Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini (PubMed:19179534). May have a general role in telomere regulation (PubMed:12676087, PubMed:12699629). Promotes in vitro the ability of TERT to elongate telomeres (PubMed:12676087, PubMed:12699629). Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization (PubMed:12676087, PubMed:12699629). Binds to the single-stranded 5\'-(GTGTGG)(4)GTGT-3\' telomeric DNA, but not to a telomerase RNA template component (TER) (PubMed:12676087, PubMed:12699629).',NULL,NULL,NULL,NULL,NULL),(1370,'UniProt Function',NULL,1656,NULL,'Plays a role in nonsense-mediated mRNA decay (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788). Is thought to provide a link to the mRNA degradation machinery as it has endonuclease activity required to initiate NMD, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788). Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788).',NULL,NULL,NULL,NULL,NULL),(1371,'UniProt Function',NULL,1657,NULL,'Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Hydrolyzes aromatic and aliphatic esters, but has no catalytic activity toward amides or a fatty acyl-CoA ester. Hydrolyzes the methyl ester group of cocaine to form benzoylecgonine. Catalyzes the transesterification of cocaine to form cocaethylene. Displays fatty acid ethyl ester synthase activity, catalyzing the ethyl esterification of oleic acid to ethyloleate.',NULL,NULL,NULL,NULL,NULL),(1372,'UniProt Function',NULL,1658,NULL,'Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs (PubMed:9169443). Shows high catalytic efficiency for hydrolysis of cocaine, 4-methylumbelliferyl acetate, heroin and 6-monoacetylmorphine (PubMed:9169443). Hydrolyzes aspirin, substrates with large alcohol group and small acyl group and endogenous lipids such as triacylglycerol (PubMed:28677105).',NULL,NULL,NULL,NULL,NULL),(1373,'UniProt Function',NULL,1659,NULL,'May play a role in actin filament architecture in developing stereocilia of sensory cells.',NULL,NULL,NULL,NULL,NULL),(1374,'UniProt Function',NULL,1660,NULL,'Could play a role in maintaining cochlear stereocilia bundles that are involved in sound detection.',NULL,NULL,NULL,NULL,NULL),(1375,'UniProt Function',NULL,1661,NULL,'Postsynaptic scaffolding protein at the parallel fiber-Purkinje cell synapse, where it may serve to link GRID2 with actin cytoskeleton and various signaling molecules.',NULL,NULL,NULL,NULL,NULL),(1376,'UniProt Function',NULL,1662,NULL,'Binds to DNA sequences containing the consensus nucleotide core sequence 5\'-GGAA.-3\'.',NULL,NULL,NULL,NULL,NULL),(1377,'UniProt Function',NULL,1678,NULL,'As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1.',NULL,NULL,NULL,NULL,NULL),(1378,'UniProt Function',NULL,1680,NULL,'Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa.',NULL,NULL,NULL,NULL,NULL),(1379,'UniProt Function',NULL,1683,NULL,'Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the \'matrix\' that guides the deposition of the enamel minerals.',NULL,NULL,NULL,NULL,NULL),(1380,'UniProt Function',NULL,1686,NULL,'Isoform 1, but not isoform 2 or isoform 3, may induce G2 arrest and apoptosis. May also increase cell sensitivity to apoptotic stimuli.',NULL,NULL,NULL,NULL,NULL),(1381,'UniProt Function',NULL,1695,NULL,'Inhibitor of neuronal axonal outgrowth. Acts as a negative regulator of CDC42 and STAT3 and a positive regulator of STMN2. Positive regulator of CDC27.',NULL,NULL,NULL,NULL,NULL),(1382,'UniProt Function',NULL,1696,NULL,'Proposed to be involved in regulation of apoptosis; the exact mechanism may differ between cell types/tissues. May be involved in hypoxia-induced cell death of transformed cells implicating cytochrome C release and caspase activation (such as CASP9) and inducing mitochondrial permeability transition. May be involved in hypoxia-induced cell death of neuronal cells probably by promoting release of AIFM1 from mitochondria to cytoplasm and its translocation to the nucleus; however, the involvement of caspases has been reported conflictingly.',NULL,NULL,NULL,NULL,NULL),(1383,'UniProt Function',NULL,1697,NULL,'May act as a GTPase-activating protein for Rab family protein(s).',NULL,NULL,NULL,NULL,NULL),(1384,'UniProt Function',NULL,1700,NULL,'Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations, acting as a rate-limiting enzyme in gluconeogenesis. Plays a role in regulating glucose sensing and insulin secretion of pancreatic beta-cells. Appears to modulate glycerol gluconeogenesis in liver. Important regulator of appetite and adiposity; increased expression of the protein in liver after nutrient excess increases circulating satiety hormones and reduces appetite-stimulating neuropeptides and thus seems to provide a feedback mechanism to limit weight gain.',NULL,NULL,NULL,NULL,NULL),(1385,'UniProt Function',NULL,1704,NULL,'Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. May have hydrolase activity.',NULL,NULL,NULL,NULL,NULL),(1386,'UniProt Function',NULL,1707,NULL,'Regulator of gamma-secretase activity, which specifically activates the production of amyloid-beta protein (amyloid-beta protein 40 and amyloid-beta protein 42), without affecting the cleavage of other gamma-secretase targets such has Notch. The gamma-secretase complex is an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Specifically promotes the gamma-cleavage of APP CTF-alpha (also named APP-CTF) by the gamma-secretase complex to generate amyloid-beta, while it reduces the epsilon-cleavage of APP CTF-alpha, leading to a low production of AICD.',NULL,NULL,NULL,NULL,NULL),(1387,'UniProt Function',NULL,1721,NULL,'Plays a role in the regulation of microglia polarization.',NULL,NULL,NULL,NULL,NULL),(1388,'UniProt Function',NULL,1722,NULL,'Actin-binding protein that regulates actin polymerization, filopodia dynamics and increases the branching of proximal dendrites of developing neurons.',NULL,NULL,NULL,NULL,NULL),(1389,'UniProt Function',NULL,1726,NULL,'Not known. Possible housekeeping role.',NULL,NULL,NULL,NULL,NULL),(1390,'UniProt Function',NULL,1729,NULL,'Synthesis and degradation of fructose 2,6-bisphosphate.',NULL,NULL,NULL,NULL,NULL),(1391,'UniProt Function',NULL,1730,NULL,'Synthesis and degradation of fructose 2,6-bisphosphate.',NULL,NULL,NULL,NULL,NULL),(1392,'UniProt Function',NULL,1732,NULL,'May be a DNA-binding protein or transcriptional factor.',NULL,NULL,NULL,NULL,NULL),(1393,'UniProt Function',NULL,1734,NULL,'May play an important role in neural development; the dorsomedial roof of the third ventricle.',NULL,NULL,NULL,NULL,NULL),(1394,'UniProt Function',NULL,1735,NULL,'Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome (PubMed:26091039). Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity (PubMed:26091039). Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1 (PubMed:22582013, PubMed:25789606). In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion (PubMed:26091039).',NULL,NULL,NULL,NULL,NULL),(1395,'UniProt Function',NULL,1738,NULL,'Catalyzes stereospecific hydroxylation of free fatty acids at the C-2 position to produce (R)-2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:17355976, PubMed:22517924, PubMed:15863841, PubMed:15337768). Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath (By similarity). Responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies critical for skin permeability barrier (PubMed:17355976). Participates in the synthesis of glycosphingolipids and a fraction of type II wax diesters in sebaceous gland, specifically regulating hair follicle homeostasis (By similarity). Involved in the synthesis of sphingolipids of plasma membrane rafts, controlling lipid raft mobility and trafficking of raft-associated proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(1396,'UniProt Function',NULL,1748,NULL,'B-FABP could be involved in the transport of a so far unknown hydrophobic ligand with potential morphogenic activity during CNS development. It is required for the establishment of the radial glial fiber system in developing brain, a system that is necessary for the migration of immature neurons to establish cortical layers (By similarity).',NULL,NULL,NULL,NULL,NULL),(1397,'UniProt Function',NULL,1750,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(1398,'UniProt Function',NULL,1750,NULL,'Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid.',NULL,NULL,NULL,NULL,NULL),(1399,'UniProt Function',NULL,1752,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(1400,'UniProt Function',NULL,1752,NULL,'Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid.',NULL,NULL,NULL,NULL,NULL),(1401,'UniProt Function',NULL,1753,NULL,'Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors. The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation. Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis. Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling.',NULL,NULL,NULL,NULL,NULL),(1402,'UniProt Function',NULL,1755,NULL,'Isoform 1: Acts as a front-end fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 5 located between a preexisting double bond and the carboxyl end of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Specifically, desaturates dihomo-gamma-linoleoate (DGLA) (20:3n-6) and eicosatetraenoate (ETA) (20:4n-3) to generate arachidonate (AA) (20:4n-6) and eicosapentaenoate (EPA) (20:5n-3), respectively (PubMed:10601301, PubMed:10769175). As a rate limiting enzyme for DGLA (20:3n-6) and AA (20:4n-6)-derived eicosanoid biosynthesis, controls the metabolism of inflammatory lipids like prostaglandin E2, critical for efficient acute inflammatory response and maintenance of epithelium homeostasis. Contributes to membrane phospholipid biosynthesis by providing AA (20:4n-6) as a major acyl chain esterified into phospholipids. In particular, regulates phosphatidylinositol-4,5-bisphosphate levels, modulating inflammatory cytokine production in T-cells (By similarity). Also desaturates (11E)-octadecenoate (trans-vaccenoate)(18:1n-9), a metabolite in the biohydrogenation pathway of LA (18:2n-6) (By similarity).',NULL,NULL,NULL,NULL,NULL),(1403,'UniProt Function',NULL,1755,NULL,'Isoform 2: Does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity.',NULL,NULL,NULL,NULL,NULL),(1404,'UniProt Function',NULL,1756,NULL,'May have hydrolase activity.',NULL,NULL,NULL,NULL,NULL),(1405,'UniProt Function',NULL,1758,NULL,'Plays a role as an inducible effector molecule that mediates Fas resistance produced by surface Ig engagement in B cells.',NULL,NULL,NULL,NULL,NULL),(1406,'UniProt Function',NULL,1759,NULL,'May play a role in the immune system processes. Protects cells from FAS-, TNF alpha- and FADD-induced apoptosis without increasing expression of the inhibitors of apoptosis BCL2 and BCLXL. Seems to activate an inhibitory pathway that prevents CASP8 activation following FAS stimulation, rather than blocking apoptotic signals downstream. May inhibit FAS-induced apoptosis by preventing CASP8 processing through CFLAR up-regulation.',NULL,NULL,NULL,NULL,NULL),(1407,'UniProt Function',NULL,1760,NULL,'Non-receptor protein-tyrosine kinase that plays an essential role in regulating cell migration, adhesion, spreading, reorganization of the actin cytoskeleton, formation and disassembly of focal adhesions and cell protrusions, cell cycle progression, cell proliferation and apoptosis. Required for early embryonic development and placenta development. Required for embryonic angiogenesis, normal cardiomyocyte migration and proliferation, and normal heart development. Regulates axon growth and neuronal cell migration, axon branching and synapse formation; required for normal development of the nervous system. Plays a role in osteogenesis and differentiation of osteoblasts. Functions in integrin signal transduction, but also in signaling downstream of numerous growth factor receptors, G-protein coupled receptors (GPCR), EPHA2, netrin receptors and LDL receptors. Forms multisubunit signaling complexes with SRC and SRC family members upon activation; this leads to the phosphorylation of additional tyrosine residues, creating binding sites for scaffold proteins, effectors and substrates. Regulates numerous signaling pathways. Promotes activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascade. Promotes activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling cascade. Promotes localized and transient activation of guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs), and thereby modulates the activity of Rho family GTPases. Signaling via CAS family members mediates activation of RAC1. Recruits the ubiquitin ligase MDM2 to P53/TP53 in the nucleus, and thereby regulates P53/TP53 activity, P53/TP53 ubiquitination and proteasomal degradation. Phosphorylates SRC; this increases SRC kinase activity. Phosphorylates ACTN1, ARHGEF7, GRB7, RET and WASL. Promotes phosphorylation of PXN and STAT1; most likely PXN and STAT1 are phosphorylated by a SRC family kinase that is recruited to autophosphorylated PTK2/FAK1, rather than by PTK2/FAK1 itself. Promotes phosphorylation of BCAR1; GIT2 and SHC1; this requires both SRC and PTK2/FAK1. Promotes phosphorylation of BMX and PIK3R1. Isoform 6 (FRNK) does not contain a kinase domain and inhibits PTK2/FAK1 phosphorylation and signaling. Its enhanced expression can attenuate the nuclear accumulation of LPXN and limit its ability to enhance serum response factor (SRF)-dependent gene transcription.',NULL,NULL,NULL,NULL,NULL),(1408,'UniProt Function',NULL,1761,NULL,'Induces apoptosis of alpha and beta cells in a dose- and time-dependent manner.',NULL,NULL,NULL,NULL,NULL),(1409,'UniProt Function',NULL,1762,NULL,'May be involved in retinal laminar formation. Promotes epithelial to mesenchymal transition.',NULL,NULL,NULL,NULL,NULL),(1410,'UniProt Function',NULL,1763,NULL,'Functions as guanine nucleotide exchange factor for RAC1. May play a role in semaphorin signaling. Plays a role in the assembly and disassembly of dendritic filopodia, the formation of dendritic spines, regulation of dendrite length and ultimately the formation of synapses (By similarity).',NULL,NULL,NULL,NULL,NULL),(1411,'UniProt Function',NULL,1764,NULL,'Required for normal mitochondrial respiration (PubMed:20869947). Increases steady-state levels and half-lives of a subset of mature mitochondrial mRNAs MT-ND2, MT-ND3, MT-CYTB, MT-CO2, and MT-ATP8/6. Promotes MT-CO1 mRNA translation and increases mitochondrial complex IV assembly and activity (PubMed:27789713).',NULL,NULL,NULL,NULL,NULL),(1412,'UniProt Function',NULL,1765,NULL,'DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene.',NULL,NULL,NULL,NULL,NULL),(1413,'UniProt Function',NULL,1766,NULL,'May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E.',NULL,NULL,NULL,NULL,NULL),(1414,'UniProt Function',NULL,1767,NULL,'Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous for ephrin-A ligands it binds preferentially EFNA5. Upon activation by EFNA5 regulates cell-cell adhesion, cytoskeletal organization and cell migration. Plays a role in cardiac cells migration and differentiation and regulates the formation of the atrioventricular canal and septum during development probably through activation by EFNA1. Involved in the retinotectal mapping of neurons. May also control the segregation but not the guidance of motor and sensory axons during neuromuscular circuit development.',NULL,NULL,NULL,NULL,NULL),(1415,'UniProt Function',NULL,1768,NULL,'Possible function in sperm maturation.',NULL,NULL,NULL,NULL,NULL),(1416,'UniProt Function',NULL,1769,NULL,'Binds the poly(A) tail of mRNA.',NULL,NULL,NULL,NULL,NULL),(1417,'UniProt Function',NULL,1771,NULL,'Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(1418,'UniProt Function',NULL,1772,NULL,'RNA-binding component of the PET complex, a multiprotein complex required for the processing of piRNAs during spermatogenesis. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposable elements, preventing their mobilization, which is essential for the germline integrity (By similarity). The PET complex is required during the secondary piRNAs metabolic process for the PIWIL2 slicing-triggered loading of PIWIL4 piRNAs. In the PET complex, EXD1 probably acts as an RNA adapter. EXD1 is an inactive exonuclease (By similarity).',NULL,NULL,NULL,NULL,NULL),(1419,'UniProt Function',NULL,1773,NULL,'Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(1420,'UniProt Function',NULL,1773,NULL,'(Microbial infection) Has an antiviral effect against flaviviruses by affecting viral RNA transcription and translation through the sequestration of elongation factor 1-alpha (EEF1A1). This results in decreased viral RNA synthesis and decreased viral protein translation.',NULL,NULL,NULL,NULL,NULL),(1421,'UniProt Function',NULL,1774,NULL,'Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(1422,'UniProt Function',NULL,1775,NULL,'Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(1423,'UniProt Function',NULL,1776,NULL,'Non-catalytic component of the RNA exosome complex which has 3\'->5\' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding \'pervasive\' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3\' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC3 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC9 and EXOSC5.',NULL,NULL,NULL,NULL,NULL),(1424,'UniProt Function',NULL,1789,NULL,'In cancer context, protects cells from induced-DNA damage and apoptosis. Acts, at least in part, through PI3K/AKT/NFKB signaling pathway and by preventing POLB degradation. Decreases POLB ubiquitation and stabilizes its protein levels.',NULL,NULL,NULL,NULL,NULL),(1425,'UniProt Function',NULL,1791,NULL,'Regulator of post-transcriptional mitochondrial gene expression, required for assembly of the mitochondrial ribosome and for recruitment of mRNA and lncRNA. Binds RNAs containing the 14 base G-rich element. Preferentially binds RNAs transcribed from three contiguous genes on the light strand of mtDNA, the ND6 mRNA, and the long non-coding RNAs for MT-CYB and MT-ND5, each of which contains multiple consensus binding sequences.',NULL,NULL,NULL,NULL,NULL),(1426,'UniProt Function',NULL,1796,NULL,'Histone binding-protein that regulates chromatin dynamics and minichromosome maintenance (MCM) loading at replication origins, possibly by promoting chromatin openness (PubMed:25990725).',NULL,NULL,NULL,NULL,NULL),(1427,'UniProt Function',NULL,1797,NULL,'Acts as an inhibitor of serine/threonine-protein phosphatase 2A (PP2A) activity. Potentiates ubiquitin-mediated proteasomal degradation of serine/threonine-protein phosphatase 2A catalytic subunit alpha (PPP2CA).',NULL,NULL,NULL,NULL,NULL),(1428,'UniProt Function',NULL,1800,NULL,'Substrate recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Mediates the ubiquitination of HIPK2 and probably that of EP300, leading to rapid degradation by the proteasome. In the presence of PML, HIPK2 ubiquitination still occurs, but degradation is prevented. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation.',NULL,NULL,NULL,NULL,NULL),(1429,'UniProt Function',NULL,1801,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Able to recognize and bind denatured glycoproteins, which are modified with complex-type oligosaccharides. Also recognizes sulfated glycans. Does not bind high-mannose glycoproteins.',NULL,NULL,NULL,NULL,NULL),(1430,'UniProt Function',NULL,1802,NULL,'S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2\'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA. Also acts as a protein methyltransferase by mediating methylation of \'Gln-105\' of histone H2A (H2AQ104me), a modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus (PubMed:24352239).',NULL,NULL,NULL,NULL,NULL),(1431,'UniProt Function',NULL,1803,NULL,'Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in iron homeostasis by promoting the ubiquitination and subsequent degradation of IREB2/IRP2. Upon high iron and oxygen level, it specifically recognizes and binds IREB2/IRP2, promoting its ubiquitination and degradation by the proteasome. Promotes ubiquitination and subsequent degradation of DCTN1/p150-glued.',NULL,NULL,NULL,NULL,NULL),(1432,'UniProt Function',NULL,1804,NULL,'Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. May coactivate KLF7, but does not seem to promote KLF7 ubiquitination (By similarity).',NULL,NULL,NULL,NULL,NULL),(1433,'UniProt Function',NULL,1805,NULL,'Receptor for the Fc region of complexed or aggregated immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B-cells. Binding to this receptor results in down-modulation of previous state of cell activation triggered via antigen receptors on B-cells (BCR), T-cells (TCR) or via another Fc receptor. Isoform IIB1 fails to mediate endocytosis or phagocytosis. Isoform IIB2 does not trigger phagocytosis.',NULL,NULL,NULL,NULL,NULL),(1434,'UniProt Function',NULL,1806,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6 and PRDM1/BLIMP1. The SCF(FBXO11) complex mediates ubiquitination and degradation of BCL6, thereby playing a role in the germinal center B-cells terminal differentiation toward memory B-cells and plasma cells. The SCF(FBXO11) complex also mediates ubiquitination and degradation of DTL, an important step for the regulation of TGF-beta signaling, cell migration and the timing of the cell-cycle progression and exit. Binds to and neddylates phosphorylated p53/TP53, inhibiting its transcriptional activity. SCF(FBXO11) does not seem to direct ubiquitination of p53/TP53.',NULL,NULL,NULL,NULL,NULL),(1435,'UniProt Function',NULL,1807,NULL,'FABP are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters. FABP2 is probably involved in triglyceride-rich lipoprotein synthesis. Binds saturated long-chain fatty acids with a high affinity, but binds with a lower affinity to unsaturated long-chain fatty acids. FABP2 may also help maintain energy homeostasis by functioning as a lipid sensor.',NULL,NULL,NULL,NULL,NULL),(1436,'UniProt Function',NULL,1808,NULL,'Plays a role in lipoprotein-mediated cholesterol uptake in hepatocytes (PubMed:25732850). Binds cholesterol (PubMed:25732850). Binds free fatty acids and their coenzyme A derivatives, bilirubin, and some other small molecules in the cytoplasm. May be involved in intracellular lipid transport (By similarity).',NULL,NULL,NULL,NULL,NULL),(1437,'UniProt Function',NULL,1809,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(1438,'UniProt Function',NULL,1810,NULL,'Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching.',NULL,NULL,NULL,NULL,NULL),(1439,'UniProt Function',NULL,1811,NULL,'Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.',NULL,NULL,NULL,NULL,NULL),(1440,'UniProt Function',NULL,1812,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(1441,'UniProt Function',NULL,1813,NULL,'Ubiquitin-binding protein (PubMed:19722279). Required for the progression of DNA replication forks by targeting DNA replication licensing factor CDT1 for degradation (PubMed:26842564). Potentiates but cannot initiate FAS-induced apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(1442,'UniProt Function',NULL,1814,NULL,'Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro (PubMed:15551868, PubMed:21878618). Also has oxaloacetate decarboxylase activity (PubMed:25575590).',NULL,NULL,NULL,NULL,NULL),(1443,'UniProt Function',NULL,1815,NULL,'Plays an important role in the processing of non-canonical mitochondrial mRNA precursors (PubMed:25683715).',NULL,NULL,NULL,NULL,NULL),(1444,'UniProt Function',NULL,1817,NULL,'Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA.',NULL,NULL,NULL,NULL,NULL),(1445,'UniProt Function',NULL,1818,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(1446,'UniProt Function',NULL,1819,NULL,'Involved in the regulation of endoplasmic reticulum (ER)-mitochondria coupling. Negatively regulates the ER-mitochondria distance and Ca(2+) transfer from ER to mitochondria possibly implicating it in the regulation of apoptosis (PubMed:27402544). May collaborate with RNF183 to restrain BIK protein levels thus regulating apoptotic signaling (PubMed:26567849).',NULL,NULL,NULL,NULL,NULL),(1447,'UniProt Function',NULL,1820,NULL,'Keratin-binding protein required for epithelial cell polarization. Involved in apical junction complex (AJC) assembly via its interaction with PARD3. Required for ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(1448,'UniProt Function',NULL,1822,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Required for muscle atrophy following denervation.',NULL,NULL,NULL,NULL,NULL),(1449,'UniProt Function',NULL,1823,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins during skeletal muscle atrophy. Recognizes TERF1.',NULL,NULL,NULL,NULL,NULL),(1450,'UniProt Function',NULL,1824,NULL,'Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner (By similarity). Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins (PubMed:11311562).',NULL,NULL,NULL,NULL,NULL),(1451,'UniProt Function',NULL,1825,NULL,'Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins. Stimulates ATPase activity of mt-HSP70. May also serve to modulate the interconversion of oligomeric (inactive) and monomeric (active) forms of mt-HSP70 (By similarity).',NULL,NULL,NULL,NULL,NULL),(1452,'UniProt Function',NULL,1828,NULL,'Acts as a fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 6 of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleate (GLA) (18:3n-6) and stearidonate (18:4n-3), respectively (PubMed:12713571). Subsequently, in the biosynthetic pathway of HUFA n-3 series, desaturates tetracosapentaenoate (24:5n-3) to tetracosahexaenoate (24:6n-3), which is then converted to docosahexaenoate (DHA)(22:6n-3), an important lipid for nervous system function (By similarity). Desaturates palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum (PubMed:12713571). Also desaturates (11E)-octadecenoate (trans-vaccenoate)(18:1n-9), a metabolite in the biohydrogenation pathway of LA (18:2n-6) (By similarity).',NULL,NULL,NULL,NULL,NULL),(1453,'UniProt Function',NULL,1829,NULL,'Acts as a methyl-end fatty acyl coenzyme A (CoA) desaturase that introduces a cis double bond between the preexisting double bond and the terminal methyl group of the fatty acyl chain. Desaturates (11E)-octadecenoate (trans-vaccenoate) at carbon 13 to generate (11E,13Z)-octadecadienoate, likely participating in the biohydrogenation pathway of linoleic acid (LA) (18:2n-6).',NULL,NULL,NULL,NULL,NULL),(1454,'UniProt Function',NULL,1830,NULL,'Through the activation of JUN and AP-1-mediated transcription, may regulate apoptosis.',NULL,NULL,NULL,NULL,NULL),(1455,'UniProt Function',NULL,1831,NULL,'Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(1456,'UniProt Function',NULL,1832,NULL,'DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.',NULL,NULL,NULL,NULL,NULL),(1457,'UniProt Function',NULL,1833,NULL,'Functions as a receptor for the Fc fragment of IgA and IgM. Binds IgA and IgM with high affinity and mediates their endocytosis. May function in the immune response to microbes mediated by IgA and IgM.',NULL,NULL,NULL,NULL,NULL),(1458,'UniProt Function',NULL,1835,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) (By similarity).',NULL,NULL,NULL,NULL,NULL),(1459,'UniProt Function',NULL,1836,NULL,'Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(1460,'UniProt Function',NULL,1838,NULL,'High affinity receptor that binds to the Fc region of immunoglobulins epsilon. Aggregation of FCER1 by multivalent antigens is required for the full mast cell response, including the release of preformed mediators (such as histamine) by degranulation and de novo production of lipid mediators and cytokines. Also mediates the secretion of important lymphokines. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators responsible for the manifestations of allergy.',NULL,NULL,NULL,NULL,NULL),(1461,'UniProt Function',NULL,1839,NULL,'Receptor for the Fc region of complexed immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B-cells.',NULL,NULL,NULL,NULL,NULL),(1462,'UniProt Function',NULL,1840,NULL,'May have an regulatory role in normal and neoplastic B cell development.',NULL,NULL,NULL,NULL,NULL),(1463,'UniProt Function',NULL,1841,NULL,'May be implicated in B-cell differentiation and lymphomagenesis.',NULL,NULL,NULL,NULL,NULL),(1464,'UniProt Function',NULL,1842,NULL,'Fibrillin-2: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.',NULL,NULL,NULL,NULL,NULL),(1465,'UniProt Function',NULL,1843,NULL,'This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B.',NULL,NULL,NULL,NULL,NULL),(1466,'UniProt Function',NULL,1844,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1467,'UniProt Function',NULL,1845,NULL,'Putative DNA helicase.',NULL,NULL,NULL,NULL,NULL),(1468,'UniProt Function',NULL,1846,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1469,'UniProt Function',NULL,1847,NULL,'Key regulator of the Wnt signaling pathway, which is required for various processes during development, such as dorsal patterning, determination of left/right symmetry or myelination in the central nervous system. Acts downstream of Wnt ligands and upstream of beta-catenin (CTNNB1). Required for canonical Wnt signaling pathway during patterning in the dorsal spinal cord by promoting the aggregation of Disheveled (Dvl) complexes, thereby clustering and formation of Wnt receptor signalosomes and potentiating Wnt activity. During dorsal patterning of the spinal cord, inhibits oligodendrocytes differentiation via interaction with PIP5K1A. Also regulates non-canonical Wnt signaling pathway. Acts downstream of PITX2 in the developing gut and is required for left/right asymmetry within dorsal mesentery: affects mesenchymal condensation by lengthening cadherin-based junctions through WNT5A and non-canonical Wnt signaling, inducing polarized condensation in the left dorsal mesentery necessary to initiate gut rotation. Together with DAAM1, required for myocardial maturation and sarcomere assembly.',NULL,NULL,NULL,NULL,NULL),(1470,'UniProt Function',NULL,1848,NULL,'Adapter protein that functions as clathrin-associated sorting protein (CLASP) required for clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds simultaneously to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and cargos containing non-phosphorylated NPXY internalization motifs, such as the LDL receptor, to recruit them to clathrin-coated pits. Can function in clathrin-mediated endocytosis independently of the AP-2 complex. Involved in endocytosis of integrin beta-1; this function seems to redundant with the AP-2 complex and seems to require DAB2 binding to endocytosis accessory EH domain-containing proteins such as EPS15, EPS15L1 and ITSN1. Involved in endocytosis of cystic fibrosis transmembrane conductance regulator/CFTR. Involved in endocytosis of megalin/LRP2 lipoprotein receptor during embryonal development. Required for recycling of the TGF-beta receptor. Involved in CFTR trafficking to the late endosome. Involved in several receptor-mediated signaling pathways. Involved in TGF-beta receptor signaling and facilitates phosphorylation of the signal transducer SMAD2. Mediates TFG-beta-stimulated JNK activation. May inhibit the canoniocal Wnt/beta-catenin signaling pathway by stabilizing the beta-catenin destruction complex through a competing association with axin preventing its dephosphorylation through protein phosphatase 1 (PP1). Sequesters LRP6 towards clathrin-mediated endocytosis, leading to inhibition of Wnt/beta-catenin signaling. May activate non-canonical Wnt signaling. In cell surface growth factor/Ras signaling pathways proposed to inhibit ERK activation by interrupting the binding of GRB2 to SOS1 and to inhibit SRC by preventing its activating phosphorylation at \'Tyr-419\'. Proposed to be involved in modulation of androgen receptor (AR) signaling mediated by SRC activation; seems to compete with AR for interaction with SRC. Plays a role in the CSF-1 signal transduction pathway. Plays a role in cellular differentiation. Involved in cell positioning and formation of visceral endoderm (VE) during embryogenesis and proposed to be required in the VE to respond to Nodal signaling coming from the epiblast. Required for the epithelial to mesenchymal transition, a process necessary for proper embryonic development. May be involved in myeloid cell differentiation and can induce macrophage adhesion and spreading. May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(1471,'UniProt Function',NULL,1849,NULL,'RNA-binding protein, which may be required during spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(1472,'UniProt Function',NULL,1850,NULL,'Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. Its transcription repressor activity is modulated by recruiting it to subnuclear compartments like the nucleolus or PML/POD/ND10 nuclear bodies through interactions with MCSR1 and PML, respectively. Seems to regulate transcription in PML/POD/ND10 nuclear bodies together with PML and may influence TNFRSF6-dependent apoptosis thereby. Inhibits transcriptional activation of PAX3 and ETS1 through direct protein-protein interactions. Modulates PAX5 activity; the function seems to involve CREBBP. Acts as an adapter protein in a MDM2-DAXX-USP7 complex by regulating the RING-finger E3 ligase MDM2 ubiquitination activity. Under non-stress condition, in association with the deubiquitinating USP7, prevents MDM2 self-ubiquitination and enhances the intrinsic E3 ligase activity of MDM2 towards TP53, thereby promoting TP53 ubiquitination and subsequent proteasomal degradation. Upon DNA damage, its association with MDM2 and USP7 is disrupted, resulting in increased MDM2 autoubiquitination and consequently, MDM2 degradation, which leads to TP53 stabilization. Acts as histone chaperone that facilitates deposition of histone H3.3. Acts as targeting component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Does not affect the ATPase activity of ATRX but alleviates its transcription repression activity. Upon neuronal activation associates with regulatory elements of selected immediate early genes where it promotes deposition of histone H3.3 which may be linked to transcriptional induction of these genes. Required for the recruitment of histone H3.3:H4 dimers to PML-nuclear bodies (PML-NBs); the process is independent of ATRX and facilitated by ASF1A; PML-NBs are suggested to function as regulatory sites for the incorporation of newly synthesized histone H3.3 into chromatin. In case of overexpression of centromeric histone variant CENPA (as found in various tumors) is involved in its mislocalization to chromosomes; the ectopic localization involves a heterotypic tetramer containing CENPA, and histones H3.3 and H4 and decreases binding of CTCF to chromatin. Proposed to mediate activation of the JNK pathway and apoptosis via MAP3K5 in response to signaling from TNFRSF6 and TGFBR2. Interaction with HSPB1/HSP27 may prevent interaction with TNFRSF6 and MAP3K5 and block DAXX-mediated apoptosis. In contrast, in lymphoid cells JNC activation and TNFRSF6-mediated apoptosis may not involve DAXX. Shows restriction activity towards human cytomegalovirus (HCMV). Plays a role as a positive regulator of the heat shock transcription factor HSF1 activity during the stress protein response (PubMed:15016915).',NULL,NULL,NULL,NULL,NULL),(1473,'UniProt Function',NULL,1851,NULL,'This transcriptional activator recognizes and binds to the sequence 5\'-RTTAYGTAAY-3\' found in the promoter of genes such as albumin, CYP2A4 and CYP2A5. It is not essential for circadian rhythm generation, but modulates important clock output genes. May be a direct target for regulation by the circadian pacemaker component clock. May affect circadian period and sleep regulation.',NULL,NULL,NULL,NULL,NULL),(1474,'UniProt Function',NULL,1852,NULL,'Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes.',NULL,NULL,NULL,NULL,NULL),(1475,'UniProt Function',NULL,1853,NULL,'Synthesizes the second messagers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger for glucose-induced insulin secretion. Also has cADPr hydrolase activity. Also moonlights as a receptor in cells of the immune system.',NULL,NULL,NULL,NULL,NULL),(1476,'UniProt Function',NULL,1854,NULL,'Regulator of sister chromatid cohesion in mitosis stabilizing cohesin complex association with chromatin. May antagonize the action of WAPL which stimulates cohesin dissociation from chromatin. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Required for efficient DNA double-stranded break repair.',NULL,NULL,NULL,NULL,NULL),(1477,'UniProt Function',NULL,1855,NULL,'Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR5 on adjacent microvilli. Thereby, controls the packing of microvilli at the apical membrane of epithelial cells. Through its cytoplasmic domain, interacts with microvillus cytoplasmic proteins to form the intermicrovillar adhesion complex/IMAC. This complex plays a central role in microvilli and epithelial brush border differentiation (PubMed:24725409). May also play a role in cell-cell adhesion and contact inhibition in epithelial cells (PubMed:12117771).',NULL,NULL,NULL,NULL,NULL),(1478,'UniProt Function',NULL,1856,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types (By similarity).',NULL,NULL,NULL,NULL,NULL),(1479,'UniProt Function',NULL,1857,NULL,'Interacts strongly with CDK4 and CDK6 and inhibits them.',NULL,NULL,NULL,NULL,NULL),(1480,'UniProt Function',NULL,1858,NULL,'Secreted protein that acts as a key regulator of lipid synthesis: mainly expressed by macrophages in lymphoid and inflammed tissues and regulates mechanisms in inflammatory responses, such as infection or atherosclerosis. Able to inhibit lipid droplet size in adipocytes. Following incorporation into mature adipocytes via CD36-mediated endocytosis, associates with cytosolic FASN, inhibiting fatty acid synthase activity and leading to lipolysis, the degradation of triacylglycerols into glycerol and free fatty acids (FFA). CD5L-induced lipolysis occurs with progression of obesity: participates in obesity-associated inflammation following recruitment of inflammatory macrophages into adipose tissues, a cause of insulin resistance and obesity-related metabolic disease. Regulation of intracellular lipids mediated by CD5L has a direct effect on transcription regulation mediated by nuclear receptors ROR-gamma (RORC). Acts as a key regulator of metabolic switch in T-helper Th17 cells. Regulates the expression of pro-inflammatory genes in Th17 cells by altering the lipid content and limiting synthesis of cholesterol ligand of RORC, the master transcription factor of Th17-cell differentiation. CD5L is mainly present in non-pathogenic Th17 cells, where it decreases the content of polyunsaturated fatty acyls (PUFA), affecting two metabolic proteins MSMO1 and CYP51A1, which synthesize ligands of RORC, limiting RORC activity and expression of pro-inflammatory genes. Participates in obesity-associated autoimmunity via its association with IgM, interfering with the binding of IgM to Fcalpha/mu receptor and enhancing the development of long-lived plasma cells that produce high-affinity IgG autoantibodies (By similarity). Also acts as an inhibitor of apoptosis in macrophages: promotes macrophage survival from the apoptotic effects of oxidized lipids in case of atherosclerosis (PubMed:24295828). Involved in early response to microbial infection against various pathogens by acting as a pattern recognition receptor and by promoting autophagy (PubMed:16030018, PubMed:24223991, PubMed:24583716, PubMed:25713983).',NULL,NULL,NULL,NULL,NULL),(1481,'UniProt Function',NULL,1859,NULL,'May play a role in cell cycle regulation. Dual specificity phosphatase active toward substrates containing either phosphotyrosine or phosphoserine residues. Dephosphorylates CDK2 at \'Thr-160\' in a cyclin-dependent manner.',NULL,NULL,NULL,NULL,NULL),(1482,'UniProt Function',NULL,1860,NULL,'May play an important role in testicular development and spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(1483,'UniProt Function',NULL,1861,NULL,'Required for ciliogenesis and for structural integrity at the ciliary tip.',NULL,NULL,NULL,NULL,NULL),(1484,'UniProt Function',NULL,1862,NULL,'Isoform 2: Chromatin reader protein that recognizes and binds histone H3 trimethylated at \'Lys-9\', dimethylated at \'Lys-27\' and trimethylated at \'Lys-27\' (H3K9me3, H3K27me2 and H3K27me3, respectively) (PubMed:19808672, PubMed:28402439). Part of multimeric repressive chromatin complexes, where it is required for transmission and restoration of repressive histone marks, thereby preserving the epigenetic landscape (PubMed:28402439). Required for chromatin targeting and maximal enzymatic activity of Polycomb repressive complex 2 (PRC2); acts as a positive regulator of PRC2 activity by bridging the pre-existing histone H3K27me3 and newly recruited PRC2 on neighboring nucleosomes (PubMed:22009739). Acts as a corepressor for REST by facilitating histone-lysine N-methyltransferase EHMT2 recruitment and H3K9 dimethylation at REST target genes for repression (PubMed:19061646). Involved X chromosome inactivation in females: recruited to Xist RNA-coated X chromosome and facilitates propagation of H3K9me2 by anchoring EHMT2 (By similarity). Required for neuronal migration during brain development by repressing expression of RHOA (By similarity). In addition to act as a chromatin reader, acts as a hydro-lyase (PubMed:28803779). Shows crotonyl-coA hydratase activity by mediating the conversion of crotonyl-CoA ((2E)-butenoyl-CoA) to beta-hydroxybutyryl-CoA (3-hydroxybutanoyl-CoA), thereby acting as a negative regulator of histone crotonylation (PubMed:28803779). Histone crotonylation is required during spermatogenesis; down-regulation of histone crotonylation by CDYL regulates the reactivation of sex chromosome-linked genes in round spermatids and histone replacement in elongating spermatids (By similarity).',NULL,NULL,NULL,NULL,NULL),(1485,'UniProt Function',NULL,1862,NULL,'Isoform 1: Not able to recognize and bind histone H3K9me3, histone H3K27me2 and histone H3K27me3, due to the presence of a N-terminal extension that inactivates the chromo domain (PubMed:19808672).',NULL,NULL,NULL,NULL,NULL),(1486,'UniProt Function',NULL,1862,NULL,'Isoform 3: Not able to recognize and bind histone H3K9me3, histone H3K27me2 and histone H3K27me3, due to the absence of the chromo domain (PubMed:19808672). Acts as a negative regulator of isoform 2 by displacing isoform 2 from chromatin.',NULL,NULL,NULL,NULL,NULL),(1487,'UniProt Function',NULL,1863,NULL,'Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein.',NULL,NULL,NULL,NULL,NULL),(1488,'UniProt Function',NULL,1864,NULL,'Important transcription factor regulating the expression of genes involved in immune and inflammatory responses (PubMed:1741402, PubMed:9374525, PubMed:12048245, PubMed:18647749). Plays also a significant role in adipogenesis, as well as in the gluconeogenic pathway, liver regeneration, and hematopoiesis. The consensus recognition site is 5\'-T[TG]NNGNAA[TG]-3\'. Its functional capacity is governed by protein interactions and post-translational protein modifications. During early embryogenesis, plays essential and redundant functions with CEBPA. Has a promitotic effect on many cell types such as hepatocytes and adipocytes but has an antiproliferative effect on T-cells by repressing MYC expression, facilitating differentiation along the T-helper 2 lineage. Binds to regulatory regions of several acute-phase and cytokines genes and plays a role in the regulation of acute-phase reaction and inflammation. Plays also a role in intracellular bacteria killing (By similarity). During adipogenesis, is rapidly expressed and, after activation by phosphorylation, induces CEBPA and PPARG, which turn on the series of adipocyte genes that give rise to the adipocyte phenotype. The delayed transactivation of the CEBPA and PPARG genes by CEBPB appears necessary to allow mitotic clonal expansion and thereby progression of terminal differentiation (PubMed:20829347). Essential for female reproduction because of a critical role in ovarian follicle development (By similarity). Restricts osteoclastogenesis: together with NFE2L1; represses expression of DSPP during odontoblast differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(1489,'UniProt Function',NULL,1864,NULL,'Isoform 2: Essential for gene expression induction in activated macrophages. Plays a major role in immune responses such as CD4(+) T-cell response, granuloma formation and endotoxin shock. Not essential for intracellular bacteria killing.',NULL,NULL,NULL,NULL,NULL),(1490,'UniProt Function',NULL,1864,NULL,'Isoform 3: Acts as a dominant negative through heterodimerization with isoform 2 (PubMed:11741938). Promotes osteoblast differentiation and osteoclastogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(1491,'UniProt Function',NULL,1867,NULL,'Lectin that binds chitooligosaccharides and other glycans with high affinity, but not heparin. Has no chitinase activity.',NULL,NULL,NULL,NULL,NULL),(1492,'UniProt Function',NULL,1868,NULL,'Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:1346131, PubMed:11422376). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable).',NULL,NULL,NULL,NULL,NULL),(1493,'UniProt Function',NULL,1869,NULL,'DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity).',NULL,NULL,NULL,NULL,NULL),(1494,'UniProt Function',NULL,1870,NULL,'Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Binds to and activates SLC9A1/NHE1 in a serum-independent manner, thus increasing pH and protecting cells from serum deprivation-induced death. Also plays a role in the regulation of cell proliferation and tumor growth by increasing the phosphatase activity of PPP3CA in a calcium-dependent manner. Activator of the calcineurin/NFAT signaling pathway. Involved in the cytoplasmic translocation of the transcription factor NFATC3 to the nucleus.',NULL,NULL,NULL,NULL,NULL),(1495,'UniProt Function',NULL,1871,NULL,'Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Promotes the maturation, transport, cell surface stability and exchange activity of SLC9A1/NHE1 at the plasma membrane. Promotes the induction of hematopoietic stem cell differentiation toward megakaryocytic lineage. Essential for the coupling of ERK cascade activation with the expression of ETS family genes in megakaryocytic differentiation. Also involved in granulocytic differentiation in a ERK-dependent manner. Inhibits the phosphatase activity of calcineurin.',NULL,NULL,NULL,NULL,NULL),(1496,'UniProt Function',NULL,1872,NULL,'RNA-binding factor that positively regulates gene expression by prohibiting miRNA-mediated gene suppression. Relieves miRNA repression in germline cells (By similarity). Prohibits the function of several miRNAs by blocking the accessibility of target mRNAs. Sequence-specific RNA-binding factor that binds specifically to U-rich regions (URRs) in the 3\' untranslated region (3\'-UTR) of several mRNAs. Does not bind to miRNAs. May play a role during primordial germ cell (PGC) survival (By similarity). However, does not seem to be essential for PGC migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(1497,'UniProt Function',NULL,1875,NULL,'Co-chaperone for HSPA8/Hsc70 (PubMed:10816573). Stimulates ATP hydrolysis, but not the folding of unfolded proteins mediated by HSPA1A (in vitro) (PubMed:24318877). Plays a role in protein transport into mitochondria via its role as co-chaperone. Functions as co-chaperone for HSPA1B and negatively regulates the translocation of BAX from the cytosol to mitochondria in response to cellular stress, thereby protecting cells against apoptosis (PubMed:14752510). Promotes apoptosis in response to cellular stress mediated by exposure to anisomycin or UV (PubMed:24512202).',NULL,NULL,NULL,NULL,NULL),(1498,'UniProt Function',NULL,1876,NULL,'Co-chaperone of Hsc70. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877).',NULL,NULL,NULL,NULL,NULL),(1499,'UniProt Function',NULL,1877,NULL,'Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family (PubMed:7957263, PubMed:22219199). In parallel, also contributes to the ubiquitin-dependent proteasomal degradation of misfolded proteins (PubMed:15936278, PubMed:21625540). Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes (PubMed:12754272, PubMed:20889486, PubMed:21719532, PubMed:22396390, PubMed:24023695). Isoform 1 which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein degradation of misfolded proteins (PubMed:15936278).',NULL,NULL,NULL,NULL,NULL),(1500,'UniProt Function',NULL,1878,NULL,'May operate as a co-chaperone of the male germ cell- and haploid stage-specific Hsp70 proteins.',NULL,NULL,NULL,NULL,NULL),(1501,'UniProt Function',NULL,1879,NULL,'Probable chaperone. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877).',NULL,NULL,NULL,NULL,NULL),(1502,'UniProt Function',NULL,1881,NULL,'Plays an indispensable role in the organization of KRT8/KRT18 filaments. Acts as an endogenous molecular chaperone for neuronal proteins including huntingtin. Suppresses aggregation and toxicity of polyglutamine-containing, aggregation-prone proteins. Isoform B but not isoform A inhibits huntingtin aggregation. Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent manner and hence acts as a co-chaperone of HSP70. Also reduces cellular toxicity and caspase-3 activity.',NULL,NULL,NULL,NULL,NULL),(1503,'UniProt Function',NULL,1882,NULL,'Probably acts as a co-chaperone.',NULL,NULL,NULL,NULL,NULL),(1504,'UniProt Function',NULL,1883,NULL,'Efficient suppressor of aggregation and toxicity of disease-associated polyglutamine proteins.',NULL,NULL,NULL,NULL,NULL),(1505,'UniProt Function',NULL,1884,NULL,'Co-chaperone for Hsp70 protein HSPA5/BiP that acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR) (By similarity). J domain-containing co-chaperones stimulate the ATPase activity of Hsp70 proteins and are required for efficient substrate recognition by Hsp70 proteins (PubMed:18400946). In the unstressed endoplasmic reticulum, interacts with the luminal region of ERN1/IRE1 and selectively recruits HSPA5/BiP: HSPA5/BiP disrupts the dimerization of the active ERN1/IRE1 luminal region, thereby inactivating ERN1/IRE1 (By similarity). Also involved in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins. Required for survival of B-cell progenitors and normal antibody production (By similarity).',NULL,NULL,NULL,NULL,NULL),(1506,'UniProt Function',NULL,1885,NULL,'May modulate protein synthesis.',NULL,NULL,NULL,NULL,NULL),(1507,'UniProt Function',NULL,1886,NULL,'Acts both as a chaperone in the cytosol and as a chromatin regulator in the nucleus. When cytosolic, acts as a molecular chaperone: component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, stimulates the ATPase activity of the ribosome-associated pool of Hsp70-type chaperones HSPA14 that bind to the nascent polypeptide chain. When nuclear, mediates the switching from polycomb-repressed genes to an active state: specifically recruited at histone H2A ubiquitinated at \'Lys-119\' (H2AK119ub), and promotes the displacement of the polycomb PRC1 complex from chromatin, thereby facilitating transcription activation. Specifically binds DNA sequence 5\'-GTCAAGC-3\'.',NULL,NULL,NULL,NULL,NULL),(1508,'UniProt Function',NULL,1887,NULL,'Involved in the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Acts as a negative regulator of the EIF2AK4/GCN2 kinase activity by preventing the phosphorylation of eIF-2-alpha at \'Ser-52\' and hence attenuating general protein synthesis under ER stress, hypothermic and amino acid starving stress conditions (By similarity). Co-chaperone of HSPA8/HSC70, it stimulates its ATPase activity. May inhibit both the autophosphorylation of EIF2AK2/PKR and the ability of EIF2AK2 to catalyze phosphorylation of the EIF2A. May inhibit EIF2AK3/PERK activity.',NULL,NULL,NULL,NULL,NULL),(1509,'UniProt Function',NULL,1889,NULL,'Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity).',NULL,NULL,NULL,NULL,NULL),(1510,'UniProt Function',NULL,1890,NULL,'Acts as co-chaperone regulating the molecular chaperones HSP70 and HSP90 in folding of steroid receptors, such as the glucocorticoid receptor and the progesterone receptor. Proposed to act as a recycling chaperone by facilitating the return of chaperone substrates to early stages of chaperoning if further folding is required. In vitro, induces ATP-independent dissociation of HSP90 but not of HSP70 from the chaperone-substrate complexes. Recruits NR1I3 to the cytoplasm (By similarity).',NULL,NULL,NULL,NULL,NULL),(1511,'UniProt Function',NULL,1891,NULL,'Suppresses polyglutamine (polyQ) aggregation of ATXN3 in neuronal cells (PubMed:27133716).',NULL,NULL,NULL,NULL,NULL),(1512,'UniProt Function',NULL,1892,NULL,'May play a role as co-chaperone of the Hsp70 family proteins HSPA1A, HSPA1B and HSPA8.',NULL,NULL,NULL,NULL,NULL),(1513,'UniProt Function',NULL,1893,NULL,'Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells.',NULL,NULL,NULL,NULL,NULL),(1514,'UniProt Function',NULL,1894,NULL,'DNA ligase that seals nicks in double-stranded DNA during DNA replication, DNA recombination and DNA repair.',NULL,NULL,NULL,NULL,NULL),(1515,'UniProt Function',NULL,1895,NULL,'Isoform 3 functions as heterodimer with DNA-repair protein XRCC1 in the nucleus and can correct defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. Isoform 1 is targeted to mitochondria, where it functions as DNA ligase in mitochondrial base-excision DNA repair (PubMed:10207110, PubMed:24674627).',NULL,NULL,NULL,NULL,NULL),(1516,'UniProt Function',NULL,1896,NULL,'Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function.',NULL,NULL,NULL,NULL,NULL),(1517,'UniProt Function',NULL,1897,NULL,'Efficiently joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.',NULL,NULL,NULL,NULL,NULL),(1518,'UniProt Function',NULL,1898,NULL,'Isoform CYP4F3A: Catalyzes the omega-hydroxylation of leukotriene-B(4), a potent chemoattractant for polymorphonuclear leukocytes, it has low activity for arachidonic acid.',NULL,NULL,NULL,NULL,NULL),(1519,'UniProt Function',NULL,1898,NULL,'Isoform CYP4F3B: Shows arachidonic acid omega-hydroxylase activity by mediating conversion of arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE) (PubMed:11461919, PubMed:16820285). Has a 30-fold higher Km for leukotriene-B(4) compared with CYP4F3A (PubMed:11461919). Also converts eicosapentaenoate (EPA) to 20-hydroxyeicosapentaenoate (20-OH-EPA) (PubMed:16820285). Acts as a polyunsaturated omega-3 fatty acids hydroxylase: mediates conversion of docosahexaenoate (DHA) to 22-hydroxydocosahexaenoate (PubMed:16820285).',NULL,NULL,NULL,NULL,NULL),(1520,'UniProt Function',NULL,1901,NULL,'Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes (Probable).',NULL,NULL,NULL,NULL,NULL),(1521,'UniProt Function',NULL,1903,NULL,'Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3\'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Involved in the histone 3\' end pre-mRNA processing.',NULL,NULL,NULL,NULL,NULL),(1522,'UniProt Function',NULL,1904,NULL,'May activate the NF-kappa-B signaling pathway.',NULL,NULL,NULL,NULL,NULL),(1523,'UniProt Function',NULL,1910,NULL,'Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Involved in early stage of neuronal differentiation via its interaction with NIF3L1.',NULL,NULL,NULL,NULL,NULL),(1524,'UniProt Function',NULL,1911,NULL,'Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively.',NULL,NULL,NULL,NULL,NULL),(1525,'UniProt Function',NULL,1912,NULL,'Isoform 1: Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Plays a role in cell proliferation.',NULL,NULL,NULL,NULL,NULL),(1526,'UniProt Function',NULL,1912,NULL,'Isoform 2: Negatively regulates neddylation of proteins, including ribosoaml protein RPL11.',NULL,NULL,NULL,NULL,NULL),(1527,'UniProt Function',NULL,1913,NULL,'Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively.',NULL,NULL,NULL,NULL,NULL),(1528,'UniProt Function',NULL,1914,NULL,'Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of neural crest cells. Down-regulates transcription factor NF2L2/NRF2 by decreasing the rate of protein synthesis and not via a ubiquitin-mediated proteasomal degradation mechanism.',NULL,NULL,NULL,NULL,NULL),(1529,'UniProt Function',NULL,1915,NULL,'Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. May function as a scaffold for the ATAC complex to promote ATAC complex stability. Has also weak histone acetyltransferase activity toward histone H4. Required for the normal progression through G1 and G2/M phases of the cell cycle.',NULL,NULL,NULL,NULL,NULL),(1530,'UniProt Function',NULL,1916,NULL,'Binds to the consensus sequence 5\'-AGAGTG-3\' and has transcriptional activator activity (By similarity). May have a tumor-suppressor function. May play a role in apoptosis.',NULL,NULL,NULL,NULL,NULL),(1531,'UniProt Function',NULL,1917,NULL,'One of the multiple factors required for polyadenylation and 3\'-end cleavage of mammalian pre-mRNAs. May be responsible for the interaction of CSTF with other factors to form a stable complex on the pre-mRNA.',NULL,NULL,NULL,NULL,NULL),(1532,'UniProt Function',NULL,1918,NULL,'One of the multiple factors required for polyadenylation and 3\'-end cleavage of mammalian pre-mRNAs. This subunit is directly involved in the binding to pre-mRNAs (By similarity).',NULL,NULL,NULL,NULL,NULL),(1533,'UniProt Function',NULL,1919,NULL,'May play a significant role in AAUAAA-independent mRNA polyadenylation in germ cells. Directly involved in the binding to pre-mRNAs (By similarity).',NULL,NULL,NULL,NULL,NULL),(1534,'UniProt Function',NULL,1923,NULL,'May modulate calcium-mediated postsynaptic signals. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation.',NULL,NULL,NULL,NULL,NULL),(1535,'UniProt Function',NULL,1924,NULL,'Plays a role in the regulation of Wnt signaling pathway during early development.',NULL,NULL,NULL,NULL,NULL),(1536,'UniProt Function',NULL,1934,NULL,'Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated Ig class switching recombination (CSR). May induce apoptosis.',NULL,NULL,NULL,NULL,NULL),(1537,'UniProt Function',NULL,1935,NULL,'Potential tumor suppressor. Inhibits prostate tumor cell growth, when overexpressed.',NULL,NULL,NULL,NULL,NULL),(1538,'UniProt Function',NULL,1936,NULL,'Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single-stranded and primed DNAs and has weak ATPase activity that is stimulated the presence of primed DNA, replication protein A (RPA) and proliferating cell nuclear antigen (PCNA). The CTF18-RFC complex catalyzes the ATP-dependent loading of PCNA onto primed and gapped DNA. It also interacts with and stimulates POLH, which is suggestive of a protein network that coordinates DNA repair, recombination and chromosome cohesion reactions with replication fork progression.',NULL,NULL,NULL,NULL,NULL),(1539,'UniProt Function',NULL,1937,NULL,'May act as a negative regulator of collagen matrix deposition.',NULL,NULL,NULL,NULL,NULL),(1540,'UniProt Function',NULL,1938,NULL,'Tumor-associated antigen.',NULL,NULL,NULL,NULL,NULL),(1541,'UniProt Function',NULL,1939,NULL,'Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells (By similarity). Preferentially catalyzes the dephosphorylation of \'Ser-5\' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation.',NULL,NULL,NULL,NULL,NULL),(1542,'UniProt Function',NULL,1940,NULL,'Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR.',NULL,NULL,NULL,NULL,NULL),(1543,'UniProt Function',NULL,1941,NULL,'May be involved in formation of stretch-resistant cell-cell adhesion complexes.',NULL,NULL,NULL,NULL,NULL),(1544,'UniProt Function',NULL,1943,NULL,'Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and \'Ser-2\'- and \'Ser-5\'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 \'Lys-4\' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of \'Lys-120\' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3\' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Required for mono- and trimethylation on histone H3 \'Lys-4\' (H3K4me3) and dimethylation on histone H3 \'Lys-79\' (H3K4me3). Required for Hox gene transcription. Required for the trimethylation of histone H3 \'Lys-4\' (H3K4me3) on genes involved in stem cell pluripotency; this function is synergistic with CXXC1 indicative for an involvement of the SET1 complex. Involved in transcriptional regulation of IL6-responsive genes and in JAK-STAT pathway; may regulate DNA-association of STAT3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(1545,'UniProt Function',NULL,1946,NULL,'Plays a role in cytokinesis. Required for KIF14 localization to the central spindle and midbody. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. It probably binds p21 with a tighter specificity in vivo. Displays serine/threonine protein kinase activity. Plays an important role in the regulation of cytokinesis and the development of the central nervous system. Phosphorylates MYL9/MLC2.',NULL,NULL,NULL,NULL,NULL),(1546,'UniProt Function',NULL,1947,NULL,'Adapter that functions to localize a calcium-sensitive signal transduction machinery in sperm to a calcium-permeable ion channel.',NULL,NULL,NULL,NULL,NULL),(1547,'UniProt Function',NULL,1950,NULL,'Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids (PubMed:22014889).',NULL,NULL,NULL,NULL,NULL),(1548,'UniProt Function',NULL,1951,NULL,'Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in chondrogenesis by activating the transcription of SEC23A, which promotes the transport and secretion of cartilage matrix proteins, and possibly that of ER biogenesis-related genes (By similarity). In a neuroblastoma cell line, protects cells from ER stress-induced death (PubMed:17178827). In vitro activates transcription of target genes via direct binding to the CRE site (PubMed:17178827).',NULL,NULL,NULL,NULL,NULL),(1549,'UniProt Function',NULL,1952,NULL,'Crystallins are the dominant structural components of the vertebrate eye lens.',NULL,NULL,NULL,NULL,NULL),(1550,'UniProt Function',NULL,1954,NULL,'Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity).',NULL,NULL,NULL,NULL,NULL),(1551,'UniProt Function',NULL,1955,NULL,'Crystallins are the dominant structural components of the vertebrate eye lens.',NULL,NULL,NULL,NULL,NULL),(1552,'UniProt Function',NULL,1956,NULL,'Crystallins are the dominant structural components of the vertebrate eye lens.',NULL,NULL,NULL,NULL,NULL),(1553,'UniProt Function',NULL,1957,NULL,'Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(1554,'UniProt Function',NULL,1958,NULL,'G-protein coupled receptor for CRH (corticotropin-releasing factor), UCN (urocortin), UCN2 and UCN3. Has high affinity for UCN. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and down-stream effectors, such as adenylate cyclase. Promotes the activation of adenylate cyclase, leading to increased intracellular cAMP levels.',NULL,NULL,NULL,NULL,NULL),(1555,'UniProt Function',NULL,1959,NULL,'Hormone regulating the release of corticotropin from pituitary gland (By similarity). Induces NLRP6 in intestinal epithelial cells, hence may influence gut microbiota profile (By similarity).',NULL,NULL,NULL,NULL,NULL),(1556,'UniProt Function',NULL,1960,NULL,'Isoform Crk-II: Regulates cell adhesion, spreading and migration. Mediates attachment-induced MAPK8 activation, membrane ruffling and cell motility in a Rac-dependent manner. Involved in phagocytosis of apoptotic cells and cell motility via its interaction with DOCK1 and DOCK4. May regulate the EFNA5-EPHA3 signaling.',NULL,NULL,NULL,NULL,NULL),(1557,'UniProt Function',NULL,1961,NULL,'May play a role in FOS signaling pathways involved in development and remodeling of neurons. Promotes transcription of the FOS promoter.',NULL,NULL,NULL,NULL,NULL),(1558,'UniProt Function',NULL,1962,NULL,'Promotes angiogenesis and tissue repair in the heart after myocardial infarction. Stimulates cardiac endothelial cell migration and outgrowth via the activation of p38 MAPK, PAK and MAPK2 signaling pathways.',NULL,NULL,NULL,NULL,NULL),(1559,'UniProt Function',NULL,1963,NULL,'Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 \'Ser-133\' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates gluconeogenesis as a component of the LKB1/AMPK/TORC2 signaling pathway. Regulates the expression of specific genes such as the steroidogenic gene, StAR. Potent coactivator of PPARGC1A and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR).',NULL,NULL,NULL,NULL,NULL),(1560,'UniProt Function',NULL,1964,NULL,'May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.',NULL,NULL,NULL,NULL,NULL),(1561,'UniProt Function',NULL,1966,NULL,'RNA-binding factor which binds specifically to the very 3\'-UTR ends of both histone H1 and H3.3 mRNAs, encompassing the polyadenylation signal. Might play a central role in the negative regulation of histone variant synthesis in the developing brain (By similarity).',NULL,NULL,NULL,NULL,NULL),(1562,'UniProt Function',NULL,1968,NULL,'Acts as an osmosensitive calcium-permeable cation channel.',NULL,NULL,NULL,NULL,NULL),(1563,'UniProt Function',NULL,1969,NULL,'Tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines in response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone and tooth development. Required for normal male and female fertility, and for normal development of milk ducts and acinar structures in the mammary gland during pregnancy. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration, and promotes cancer cell invasion. Activates several signaling pathways in response to ligand binding. Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL. Activation of PLCG2 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, that then lead to the activation of protein kinase C family members, especially PRKCD. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to activation of the AKT1 signaling pathway. Activated CSF1R also mediates activation of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1. Activated CSF1R transmits signals both via proteins that directly interact with phosphorylated tyrosine residues in its intracellular domain, or via adapter proteins, such as GRB2. Promotes activation of STAT family members STAT3, STAT5A and/or STAT5B. Promotes tyrosine phosphorylation of SHC1 and INPP5D/SHIP-1. Receptor signaling is down-regulated by protein phosphatases, such as INPP5D/SHIP-1, that dephosphorylate the receptor and its downstream effectors, and by rapid internalization of the activated receptor.',NULL,NULL,NULL,NULL,NULL),(1564,'UniProt Function',NULL,1970,NULL,'Interacts with MUS81 to form a DNA structure-specific endonuclease which cleaves substrates such as 3\'-flap structures.',NULL,NULL,NULL,NULL,NULL),(1565,'UniProt Function',NULL,1971,NULL,'Catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Regulates numerous cellular processes, such as cell cycle progression, apoptosis and transcription, as well as viral infection. May act as a regulatory node which integrates and coordinates numerous signals leading to an appropriate cellular response. During mitosis, functions as a component of the p53/TP53-dependent spindle assembly checkpoint (SAC) that maintains cyclin-B-CDK1 activity and G2 arrest in response to spindle damage. Also required for p53/TP53-mediated apoptosis, phosphorylating \'Ser-392\' of p53/TP53 following UV irradiation. Can also negatively regulate apoptosis. Phosphorylates the caspases CASP9 and CASP2 and the apoptotic regulator NOL3. Phosphorylation protects CASP9 from cleavage and activation by CASP8, and inhibits the dimerization of CASP2 and activation of CASP8. Regulates transcription by direct phosphorylation of RNA polymerases I, II, III and IV. Also phosphorylates and regulates numerous transcription factors including NF-kappa-B, STAT1, CREB1, IRF1, IRF2, ATF1, SRF, MAX, JUN, FOS, MYC and MYB. Phosphorylates Hsp90 and its co-chaperones FKBP4 and CDC37, which is essential for chaperone function. Regulates Wnt signaling by phosphorylating CTNNB1 and the transcription factor LEF1. Acts as an ectokinase that phosphorylates several extracellular proteins. During viral infection, phosphorylates various proteins involved in the viral life cycles of EBV, HSV, HBV, HCV, HIV, CMV and HPV.',NULL,NULL,NULL,NULL,NULL),(1566,'UniProt Function',NULL,1972,NULL,'May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.',NULL,NULL,NULL,NULL,NULL),(1567,'UniProt Function',NULL,1973,NULL,'Protein-lysine methyltransferase that selectively trimethylates citrate synthase (CS) in mitochondria (PubMed:28391595, PubMed:28887308). Seems to conduct trimethylation in a highly distributive manner rather than in a processive manner, and thus introduces a single methly group per binding event (PubMed:28887308).',NULL,NULL,NULL,NULL,NULL),(1568,'UniProt Function',NULL,1974,NULL,'Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation (PubMed:24814193). Facilitates surface trafficking and formation of lipid rafts bearing GPI-anchor proteins (By similarity). Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T-cell mediated cytotoxicity (By similarity). Regulates the plasma membrane expression of the integrin heterodimers ITGA6-ITGB1, ITGA5-ITGB3 and ITGA5-ITGB1 resulting in modulation of cell-matrix adhesion (PubMed:16216233). Also regulates many processes through PTK2. Regulates blood vessel endothelial cell migration and angiogenesis by regulating VEGF protein expression through PTK2 activation (PubMed:23439602). Regulates cell migration and cell contraction through PTK2 and SRC activation (PubMed:21637765, PubMed:22728127). Regulates focal adhesion density, F-actin conformation and cell adhesion capacity through interaction with PTK2 (PubMed:19494199). Positively regulates cell proliferation (PubMed:24814193). Plays a role during cell death and cell blebbing (PubMed:12107182). Promotes angiogenesis and vasculogenesis through induction of VEGFA via a HIF1A-dependent pathway (PubMed:23334331). Also plays a role in embryo implantation by regulating surface trafficking of integrin heterodimer ITGA5-ITGB3 (PubMed:16487956). May play a role in glomerular filtration (By similarity).',NULL,NULL,NULL,NULL,NULL),(1569,'UniProt Function',NULL,1976,NULL,'Promotes guanine-nucleotide exchange on ARF1 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. Play a role in the epithelial polarization (By similarity).',NULL,NULL,NULL,NULL,NULL),(1570,'UniProt Function',NULL,1978,NULL,'This protein recognizes C4b and C3b fragments that condense with cell-surface hydroxyl or amino groups when nascent C4b and C3b are locally generated during C4 and c3 activation. Interaction of daf with cell-associated C4b and C3b polypeptides interferes with their ability to catalyze the conversion of C2 and factor B to enzymatically active C2a and Bb and thereby prevents the formation of C4b2a and C3bBb, the amplification convertases of the complement cascade (PubMed:7525274). Inhibits complement activation by destabilizing and preventing the formation of C3 and C5 convertases, which prevents complement damage (PubMed:28657829).',NULL,NULL,NULL,NULL,NULL),(1571,'UniProt Function',NULL,1978,NULL,'(Microbial infection) Acts as a receptor for Coxsackievirus A21, coxsackieviruses B1, B3 and B5.',NULL,NULL,NULL,NULL,NULL),(1572,'UniProt Function',NULL,1978,NULL,'(Microbial infection) Acts as a receptor for Human enterovirus 70 and D68 (Probable).',NULL,NULL,NULL,NULL,NULL),(1573,'UniProt Function',NULL,1978,NULL,'(Microbial infection) Acts as a receptor for Human echoviruses 6, 7, 11, 12, 20 and 21.',NULL,NULL,NULL,NULL,NULL),(1574,'UniProt Function',NULL,1983,NULL,'Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.',NULL,NULL,NULL,NULL,NULL),(1575,'UniProt Function',NULL,1984,NULL,'Exhibits a coumarin 7-hydroxylase activity. Active in the metabolic activation of hexamethylphosphoramide, N,N-dimethylaniline, 2\'-methoxyacetophenone, N-nitrosomethylphenylamine, and the tobacco-specific carcinogen, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone. Possesses phenacetin O-deethylation activity.',NULL,NULL,NULL,NULL,NULL),(1576,'UniProt Function',NULL,1985,NULL,'Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4\'-dimethyl cholesta-8,14,24-triene-3-beta-ol.',NULL,NULL,NULL,NULL,NULL),(1577,'UniProt Function',NULL,1986,NULL,'Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3\'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Has endonuclease activity, and functions as mRNA 3\'-end-processing endonuclease. Also involved in the histone 3\'-end pre-mRNA processing. U7 snRNP-dependent protein that induces both the 3\'-endoribonucleolytic cleavage of histone pre-mRNAs and acts as a 5\' to 3\' exonuclease for degrading the subsequent downstream cleavage product (DCP) of mature histone mRNAs. Cleavage occurs after the 5\'-ACCCA-3\' sequence in the histone pre-mRNA leaving a 3\'hydroxyl group on the upstream fragment containing the stem loop (SL) and 5\' phosphate on the downstream cleavage product (DCP) starting with CU nucleotides. The U7-dependent 5\' to 3\' exonuclease activity is processive and degrades the DCP RNA substrate even after complete removal of the U7-binding site. Binds to the downstream cleavage product (DCP) of histone pre-mRNAs and the cleaved DCP RNA substrate in a U7 snRNP dependent manner.',NULL,NULL,NULL,NULL,NULL),(1578,'UniProt Function',NULL,1987,NULL,'Positively regulates a late step in synaptic vesicle exocytosis.',NULL,NULL,NULL,NULL,NULL),(1579,'UniProt Function',NULL,1988,NULL,'Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.',NULL,NULL,NULL,NULL,NULL),(1580,'UniProt Function',NULL,1990,NULL,'Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior segment eye development.',NULL,NULL,NULL,NULL,NULL),(1581,'UniProt Function',NULL,1991,NULL,'May regulate transport of alpha4-beta2 neuronal acetylcholine receptor.',NULL,NULL,NULL,NULL,NULL),(1582,'UniProt Function',NULL,1992,NULL,'Acts as a component of endosomal retrieval machinery that is involved in protein transport from early endosomes to either recycling endosomes or the trans-Golgi network. Mediates the recruitment of Golgi-associated retrograde protein (GARP) complex to the trans-Golgi network and controls early endosome-to-Golgi transport of internalized protein. Promotes the recycling of internalized transferrin receptor (TFRC) to the plasma membrane through interaction with endosome-associated recycling protein (EARP) complex.',NULL,NULL,NULL,NULL,NULL),(1583,'UniProt Function',NULL,1993,NULL,'Transcriptional regulator that binds the cAMP response element (CRE), a sequence present in many viral and cellular promoters. Isoforms are either transcriptional activators or repressors. Plays a role in spermatogenesis and is involved in spermatid maturation (PubMed:10373550).',NULL,NULL,NULL,NULL,NULL),(1584,'UniProt Function',NULL,1993,NULL,'Isoform 6: May play a role in the regulation of the circadian clock: acts as a transcriptional repressor of the core circadian component PER1 by directly binding to cAMP response elements in its promoter.',NULL,NULL,NULL,NULL,NULL),(1585,'UniProt Function',NULL,1995,NULL,'Tubulin binding protein that inhibits microtubule nucleation and growth, resulting in shorter microtubules.',NULL,NULL,NULL,NULL,NULL),(1586,'UniProt Function',NULL,1996,NULL,'May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic.',NULL,NULL,NULL,NULL,NULL),(1587,'UniProt Function',NULL,1997,NULL,'May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic.',NULL,NULL,NULL,NULL,NULL),(1588,'UniProt Function',NULL,1998,NULL,'May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic.',NULL,NULL,NULL,NULL,NULL),(1589,'UniProt Function',NULL,1999,NULL,'May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic.',NULL,NULL,NULL,NULL,NULL),(1590,'UniProt Function',NULL,2000,NULL,'May play a role in neuronal migration during embryonic development.',NULL,NULL,NULL,NULL,NULL),(1591,'UniProt Function',NULL,2001,NULL,'Binds to the consensus sequence 5\'-AGAGTG-3\' and has transcriptional activator activity (By similarity). May play a role in apoptosis.',NULL,NULL,NULL,NULL,NULL),(1592,'UniProt Function',NULL,2002,NULL,'Binds to the consensus sequence 5\'-AGAGTG-3\' and has transcriptional activator activity. Plays a role in apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(1593,'UniProt Function',NULL,2003,NULL,'Could play a role in neuronal development.',NULL,NULL,NULL,NULL,NULL),(1594,'UniProt Function',NULL,2004,NULL,'Drastically down-regulated in response to PDGF-BB or cell injury, that promote smooth muscle cell proliferation and dedifferentiation. Seems to play a role in the development of the embryonic vascular system.',NULL,NULL,NULL,NULL,NULL),(1595,'UniProt Function',NULL,2005,NULL,'Positive regulator of myogenesis. Acts as cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functional MYOD1:TCF3 isoform E47:MEF2A complex involved in myogenesis (By similarity). Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation (By similarity). The role in regulation of cytoskeleton dynamics by association with CFL2 is reported conflictingly: Shown to enhance CFL2-mediated F-actin depolymerization dependent on the CSRP3:CFL2 molecular ratio, and also shown to reduce the ability of CLF1 and CFL2 to enhance actin depolymerization (PubMed:19752190, PubMed:24934443). Proposed to contribute to the maintenance of muscle cell integerity through an actin-based mechanism. Can directly bind to actin filaments, cross-link actin filaments into bundles without polarity selectivity and protect them from dilution- and cofilin-mediated depolymerization; the function seems to involve its self-association (PubMed:24934443). In vitro can inhibit PKC/PRKCA activity (PubMed:27353086). Proposed to be involved in cardiac stress signaling by down-regulating excessive PKC/PRKCA signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(1596,'UniProt Function',NULL,2005,NULL,'Isoform 2: May play a role in early sarcomere organization. Overexpression in myotubes negatively regulates myotube differentiation. By association with isoform 1 and thus changing the CSRP3 isoform 1:CFL2 stoichiometry is proposed to down-regulate CFL2-mediated F-actin depolymerization.',NULL,NULL,NULL,NULL,NULL),(1597,'UniProt Function',NULL,2006,NULL,'May act as a DNase and a RNase.',NULL,NULL,NULL,NULL,NULL),(1598,'UniProt Function',NULL,2008,NULL,'Has antibacterial activity against the Gram-negative bacteria E.coli. May play a role in sperm maturation and fertilization.',NULL,NULL,NULL,NULL,NULL),(1599,'UniProt Function',NULL,2009,NULL,'May modulate calcium-mediated postsynaptic signals.',NULL,NULL,NULL,NULL,NULL),(1600,'UniProt Function',NULL,2010,NULL,'Performs a specialized role during sperm development and maturation.',NULL,NULL,NULL,NULL,NULL),(1601,'UniProt Function',NULL,2014,NULL,'May act as an effector for ARL3.',NULL,NULL,NULL,NULL,NULL),(1602,'UniProt Function',NULL,2019,NULL,'Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation.',NULL,NULL,NULL,NULL,NULL),(1603,'UniProt Function',NULL,2021,NULL,'Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 \'Arg-3\' to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3 lysine 4 (H3K4me2) of MYC and BRCA1 promoters.',NULL,NULL,NULL,NULL,NULL),(1604,'UniProt Function',NULL,2023,NULL,'Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers and recruiting PREB/SEC12 at the endoplasmic reticulum exit sites.',NULL,NULL,NULL,NULL,NULL),(1605,'UniProt Function',NULL,2024,NULL,'Protein phosphatase that dephosphorylates AKT family kinase specifically at \'Ser-473\', blocking cell cycle progression and promoting cell apoptosis. May play an inhibitory role in glucose uptake by adipocytes.',NULL,NULL,NULL,NULL,NULL),(1606,'UniProt Function',NULL,2026,NULL,'Hydroxylates arachidonic acid (20:4n-6) to (18R)-hydroxyarachidonate. Shows little activity against prostaglandin (PG) D2, PGE1, PGE2, PGF2alpha, and leukotriene B4. Catalyzes omega-2 and omega-3-hydroxylation of PGH1 and PGH2. Catalyzes epoxidation of 4,7,10,13,16,19-(Z)-docosahexaenoic acid (22:6n-3) and 7,10,13,16,19-(Z)-docosapentaenoic acid (22:5n-3) and omega-3-hydroxylation of 4,7,10,13,16-(Z)-docosapentaenoic acid (22:5n-6). Catalyzes hydroxylation of PGI2 and carbaprostacyclin.',NULL,NULL,NULL,NULL,NULL),(1607,'UniProt Function',NULL,2027,NULL,'Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3\'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (PubMed:9659921, PubMed:8626397, PubMed:14690600, PubMed:29276085). CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3\'-end, so called cleavage and polyadenylation signals (pA signals) (PubMed:9659921, PubMed:8626397, PubMed:14690600). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3\'-end formation (PubMed:23187700, PubMed:29276085). The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5\'-UGUA-3\' elements localized in the 3\'-untranslated region (UTR) for a huge number of pre-mRNAs (PubMed:20695905, PubMed:29276085). CPSF6 enhances NUDT21/CPSF5 binding to 5\'-UGUA-3\' elements localized upstream of pA signals and promotes RNA looping, and hence activates directly the mRNA 3\'-processing machinery (PubMed:15169763, PubMed:29276085, PubMed:21295486). Plays a role in mRNA export (PubMed:19864460).',NULL,NULL,NULL,NULL,NULL),(1608,'UniProt Function',NULL,2028,NULL,'Calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.',NULL,NULL,NULL,NULL,NULL),(1609,'UniProt Function',NULL,2033,NULL,'Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria (PubMed:24231807, PubMed:26774479, PubMed:27099988). Required to bridge the calcium-sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU (PubMed:24231807). Plays a central role in regulating the uniplex complex response to intracellular calcium signaling (PubMed:27099988). Acts by mediating activation of MCU and retention of MICU1 to the MCU pore, in order to ensure tight regulation of the uniplex complex and appropriate responses to intracellular calcium signaling (PubMed:27099988).',NULL,NULL,NULL,NULL,NULL),(1610,'UniProt Function',NULL,2034,NULL,'Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Suppresses G-protein- and mitogen-activated protein kinase-mediated signal transduction.',NULL,NULL,NULL,NULL,NULL),(1611,'UniProt Function',NULL,2035,NULL,'Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin. Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2. As part of a histone H3-specific methyltransferase complex may mediate ligand-dependent transcriptional activation by nuclear hormone receptors.',NULL,NULL,NULL,NULL,NULL),(1612,'UniProt Function',NULL,2036,NULL,'Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate. Binds through its extracellular N-terminus growth factors, extracellular matrix proteases modulating their activity. May regulate MPP16-dependent degradation and invasion of type I collagen participating in melanoma cells invasion properties. May modulate the plasminogen system by enhancing plasminogen activation and inhibiting angiostatin. Functions also as a signal transducing protein by binding through its cytoplasmic C-terminus scaffolding and signaling proteins. May promote retraction fiber formation and cell polarization through Rho GTPase activation. May stimulate alpha-4, beta-1 integrin-mediated adhesion and spreading by recruiting and activating a signaling cascade through CDC42, ACK1 and BCAR1. May activate FAK and ERK1/ERK2 signaling cascades.',NULL,NULL,NULL,NULL,NULL),(1613,'UniProt Function',NULL,2037,NULL,'May play a role in cell-cycle-dependent microtubule organization.',NULL,NULL,NULL,NULL,NULL),(1614,'UniProt Function',NULL,2038,NULL,'One of the multiple factors required for polyadenylation and 3\'-end cleavage of mammalian pre-mRNAs.',NULL,NULL,NULL,NULL,NULL),(1615,'UniProt Function',NULL,2039,NULL,'Endoribonuclease that cleaves single-stranded RNAs at uridylates and releases products that have 2\'-3\'-cyclic phosphate termini.',NULL,NULL,NULL,NULL,NULL),(1616,'UniProt Function',NULL,2048,NULL,'Corepressor targeting diverse transcription regulators. Functions in brown adipose tissue (BAT) differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(1617,'UniProt Function',NULL,2048,NULL,'Isoform 2 probably acts as a scaffold for specialized synapses.',NULL,NULL,NULL,NULL,NULL),(1618,'UniProt Function',NULL,2049,NULL,'Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3\' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Involved in telomere maintenance (PubMed:19854131, PubMed:22863775). Involved in genome stability (PubMed:22863775). May be in involved in telomeric C-strand fill-in during late S/G2 phase (By similarity).',NULL,NULL,NULL,NULL,NULL),(1619,'UniProt Function',NULL,2050,NULL,'Chromatin binding factor that binds to DNA sequence specific sites. Involved in transcriptional regulation by binding to chromatin insulators and preventing interaction between promoter and nearby enhancers and silencers. Acts as transcriptional repressor binding to promoters of vertebrate MYC gene and BAG1 gene. Also binds to the PLK and PIM1 promoters. Acts as a transcriptional activator of APP. Regulates APOA1/C3/A4/A5 gene cluster and controls MHC class II gene expression. Plays an essential role in oocyte and preimplantation embryo development by activating or repressing transcription. Seems to act as tumor suppressor. Plays a critical role in the epigenetic regulation. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, binding within the H19 imprinting control region (ICR) mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to IGF2. Plays a critical role in gene silencing over considerable distances in the genome. Preferentially interacts with unmethylated DNA, preventing spreading of CpG methylation and maintaining methylation-free zones. Inversely, binding to target sites is prevented by CpG methylation. Plays a important role in chromatin remodeling. Can dimerize when it is bound to different DNA sequences, mediating long-range chromatin looping. Mediates interchromosomal association between IGF2/H19 and WSB1/NF1 and may direct distant DNA segments to a common transcription factory. Causes local loss of histone acetylation and gain of histone methylation in the beta-globin locus, without affecting transcription. When bound to chromatin, it provides an anchor point for nucleosomes positioning. Seems to be essential for homologous X-chromosome pairing. May participate with Tsix in establishing a regulatable epigenetic switch for X chromosome inactivation. May play a role in preventing the propagation of stable methylation at the escape genes from X- inactivation. Involved in sister chromatid cohesion. Associates with both centromeres and chromosomal arms during metaphase and required for cohesin localization to CTCF sites. Regulates asynchronous replication of IGF2/H19. Plays a role in the recruitment of CENPE to the pericentromeric/centromeric regions of the chromosome during mitosis (PubMed:26321640).',NULL,NULL,NULL,NULL,NULL),(1620,'UniProt Function',NULL,2051,NULL,'Processively dephosphorylates \'Ser-2\' and \'Ser-5\' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for M-phase-promoting factor (MPF)/CDK1 inactivation.',NULL,NULL,NULL,NULL,NULL),(1621,'UniProt Function',NULL,2052,NULL,'Preferentially catalyzes the dephosphorylation of \'Ser-5\' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells.',NULL,NULL,NULL,NULL,NULL),(1622,'UniProt Function',NULL,2053,NULL,'Preferentially catalyzes the dephosphorylation of \'Ser-5\' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. May contribute to the development of sarcomas.',NULL,NULL,NULL,NULL,NULL),(1623,'UniProt Function',NULL,2054,NULL,'Inhibitory receptor acting as a major negative regulator of T-cell responses. The affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28.',NULL,NULL,NULL,NULL,NULL),(1624,'UniProt Function',NULL,2055,NULL,'Induces cardiac myocyte hypertrophy in vitro. Binds to and activates the ILST/gp130 receptor.',NULL,NULL,NULL,NULL,NULL),(1625,'UniProt Function',NULL,2056,NULL,'Isoform 1, but not isoform 3, exhibits some choline transporter activity.',NULL,NULL,NULL,NULL,NULL),(1626,'UniProt Function',NULL,2058,NULL,'Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation of cell adhesion, as component of an E-cadherin:catenin adhesion complex. Acts as a negative regulator of centrosome cohesion. Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization. Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2. Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22647378, PubMed:22699938, PubMed:22155184). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (By similarity).',NULL,NULL,NULL,NULL,NULL),(1627,'UniProt Function',NULL,2059,NULL,'Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediates the ubiquitination of target proteins. Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695). Interaction with CUL9 is required to inhibit CUL9 activity and ubiquitination of BIRC5 (PubMed:24793696). Core component of a Cul7-RING ubiquitin-protein ligase with FBXW8, which mediates ubiquitination and consequent degradation of target proteins such as GORASP1, IRS1 and MAP4K1/HPK1 (PubMed:21572988, PubMed:24362026). Ubiquitination of GORASP1 regulates Golgi morphogenesis and dendrite patterning in brain (PubMed:21572988). Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2) (PubMed:18498745). The Cul7-RING(FBXW8) complex also mediates ubiquitination of MAP4K1/HPK1: recognizes and binds autophosphorylated MAP4K1/HPK1, leading to its degradation, thereby affecting cell proliferation and differentiation (PubMed:24362026). Acts as a regulator in trophoblast cell epithelial-mesenchymal transition and placental development (PubMed:20139075). Does not promote polyubiquitination and proteasomal degradation of p53/TP53 (PubMed:16547496, PubMed:17332328). While the Cul7-RING(FBXW8) and the 3M complexes are associated and involved in common processes, CUL7 and the Cul7-RING(FBXW8) complex may be have additional functions.',NULL,NULL,NULL,NULL,NULL),(1628,'UniProt Function',NULL,2060,NULL,'Core component of multiple cullin-RING-based ECS (ElonginB/C-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of target proteins. ECS complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). May serve as a rigid scaffold in the complex and may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the ECS complex depends on the substrate recognition component. ECS(VHL) mediates the ubiquitination of hypoxia-inducible factor (HIF).',NULL,NULL,NULL,NULL,NULL),(1629,'UniProt Function',NULL,2063,NULL,'Calcium-dependent phospholipid-binding protein that plays a role in ERBB2-mediated tumor cell migration in response to growth factor heregulin stimulation (PubMed:20010870).',NULL,NULL,NULL,NULL,NULL),(1630,'UniProt Function',NULL,2064,NULL,'Omega-hydroxylase that oxidizes medium-chain saturated fatty acids and polyunsaturated omega-3 fatty acids, and which plays a role in fatty acid and steroid metabolism in the eye (PubMed:19661213, PubMed:22772592). Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12) (PubMed:19661213). Acts as a polyunsaturated omega-3 fatty acids hydroxylase by mediating oxidation of docosahexaenoate (DHA) to 22-hydroxydocosahexaenoate (PubMed:22772592). Also produces some 21-hydroxydocosahexaenoate. Also converts eicosapentaenoate (EPA) to 20-hydroxyeicosapentaenoate (20-OH-EPA) (PubMed:22772592).',NULL,NULL,NULL,NULL,NULL),(1631,'UniProt Function',NULL,2067,NULL,'Probably plays an important role in centrosome cohesion during interphase.',NULL,NULL,NULL,NULL,NULL),(1632,'UniProt Function',NULL,2068,NULL,'Promotes guanine-nucleotide exchange on ARF1, ARF5 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. Plays an important role in membrane trafficking, during junctional remodeling and epithelial polarization, through regulation of ARF6 activity.',NULL,NULL,NULL,NULL,NULL),(1633,'UniProt Function',NULL,2069,NULL,'Acts as a guanine-nucleotide exchange factor (GEF). Promotes guanine-nucleotide exchange on ARF1, ARF3 and ARF6. Activates ARF factors through replacement of GDP with GTP (By similarity). The cell membrane form, in association with ARL4 proteins, recruits ARF6 to the plasma membrane (PubMed:17398095). Involved in neurite growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(1634,'UniProt Function',NULL,2071,NULL,'Isoform 1: Cell-cycle-specific inhibitor of classical non-homologous end joining (NHEJ) of DNA double-strand break (DSB) repair during the S and G2 phases (PubMed:28959974). Acts as a regulator of DNA repair pathway choice by specifically inhibiting classical NHEJ during the S and G2 phases, thereby promoting error-free repair by homologous recombination during cell cycle phases when sister chromatids are present (PubMed:28959974). Preferentially protects single-stranded overhangs at break sites by inhibiting classical NHEJ, thereby creating a local environment that favors homologous recombination (PubMed:28959974). Acts via interaction with XRCC5/Ku80 and XRCC6/Ku70, interaction restricted during the S and G2 phases only (PubMed:28959974). Molecular mechanisms governing classical NHEJ inhibition via interaction with XRCC5/Ku80 and XRCC6/Ku70 are unknown (PubMed:28959974). May act as a regulator of proteasome (By similarity).',NULL,NULL,NULL,NULL,NULL),(1635,'UniProt Function',NULL,2071,NULL,'Isoform 4: Cell-cycle-specific inhibitor of classical non-homologous end joining (NHEJ) of DNA double-strand break (DSB) repair during the S and G2 phases (PubMed:24610814, PubMed:28959974). Acts as a regulator of DNA repair pathway choice by specifically inhibiting classical NHEJ during the S and G2 phases, thereby promoting error-free repair by homologous recombination during cell cycle phases when sister chromatids are present (PubMed:28959974). Preferentially protects single-stranded overhangs at break sites by inhibiting classical NHEJ, thereby creating a local environment that favors homologous recombination (PubMed:28959974). Acts via interaction with XRCC5/Ku80 and XRCC6/Ku70, interaction restricted during the S and G2 phases only (PubMed:28959974). Molecular mechanisms governing classical NHEJ inhibition via interaction with XRCC5/Ku80 and XRCC6/Ku70 are unknown (PubMed:28959974).',NULL,NULL,NULL,NULL,NULL),(1636,'UniProt Function',NULL,2073,NULL,'Probable proto-oncogene that regulates cell proliferation, growth, migration and epithelial to mesenchymal transition. Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC (PubMed:24344117). May play also a role in cell proliferation through activation of the ERK1/ERK2 signaling cascade (PubMed:25646692). May also be important for proper chromosome congression and alignment during mitosis through its interaction with KIF22.',NULL,NULL,NULL,NULL,NULL),(1637,'UniProt Function',NULL,2075,NULL,'Inhibits papain and cathepsin L but with affinities lower than other cystatins. May play a role in immune regulation through inhibition of a unique target in the hematopoietic system.',NULL,NULL,NULL,NULL,NULL),(1638,'UniProt Function',NULL,2076,NULL,'By its binding to cytohesin-1 (CYTH1), it modifies activation of ARFs by CYTH1 and its precise function may be to sequester CYTH1 in the cytoplasm.',NULL,NULL,NULL,NULL,NULL),(1639,'UniProt Function',NULL,2077,NULL,'Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins.',NULL,NULL,NULL,NULL,NULL),(1640,'UniProt Function',NULL,2078,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1641,'UniProt Function',NULL,2079,NULL,'Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate.',NULL,NULL,NULL,NULL,NULL),(1642,'UniProt Function',NULL,2081,NULL,'Negative regulator of the canonical Wnt signaling pathway, acting downstream of DVL to inhibit CTNNB1/Beta-catenin stabilization (By similarity). May also activate the JNK signaling pathway (PubMed:25062847).',NULL,NULL,NULL,NULL,NULL),(1643,'UniProt Function',NULL,2085,NULL,'Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints respectively. This protein exhibits single-strand specific 5\'-3\' exonuclease activity in isolation and acquires endonucleolytic activity on 5\' and 3\' hairpins and overhangs when in a complex with PRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint. May also be required for the repair of complex DSBs induced by ionizing radiation, which require substantial end-processing prior to religation by NHEJ.',NULL,NULL,NULL,NULL,NULL),(1644,'UniProt Function',NULL,2087,NULL,'Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor and calcium.',NULL,NULL,NULL,NULL,NULL),(1645,'UniProt Function',NULL,2088,NULL,'Promotes cell proliferation, chemotaxis, angiogenesis and cell adhesion. Appears to play a role in wound healing by up-regulating, in skin fibroblasts, the expression of a number of genes involved in angiogenesis, inflammation and matrix remodeling including VEGA-A, VEGA-C, MMP1, MMP3, TIMP1, uPA, PAI-1 and integrins alpha-3 and alpha-5. CYR61-mediated gene regulation is dependent on heparin-binding. Down-regulates the expression of alpha-1 and alpha-2 subunits of collagen type-1. Promotes cell adhesion and adhesive signaling through integrin alpha-6/beta-1, cell migration through integrin alpha-v/beta-5 and cell proliferation through integrin alpha-v/beta-3.',NULL,NULL,NULL,NULL,NULL),(1646,'UniProt Function',NULL,2089,NULL,'May regulate the bone morphogenetic proteins (BMP) pathway.',NULL,NULL,NULL,NULL,NULL),(1647,'UniProt Function',NULL,2090,NULL,'May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688).',NULL,NULL,NULL,NULL,NULL),(1648,'UniProt Function',NULL,2091,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1649,'UniProt Function',NULL,2092,NULL,'Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator for SIX1 and SIX6. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter. Is recruited with SIX6 to the p27Kip1 promoter in embryonal retina. SIX6 corepression seems also to involve NCOR1, TBL1, HDAC1 and HDAC3. May be involved together with PAX3, SIX1, and EYA2 in regulation of myogenesis. In the developing somite, expression of DACH2 and PAX3 is regulated by the overlying ectoderm, and DACH2 and PAX3 positively regulate each other\'s expression (By similarity). Probably binds to DNA via its DACHbox-N domain.',NULL,NULL,NULL,NULL,NULL),(1650,'UniProt Function',NULL,2093,NULL,'Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:22467853). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (By similarity). Required for the assembly of both SST3A- and SS3B-containing OST complexes. Loss of the DAD1 protein triggers apoptosis (PubMed:22467853).',NULL,NULL,NULL,NULL,NULL),(1651,'UniProt Function',NULL,2094,NULL,'Microtubule-binding protein which plays an important role in mediating dynein-dependent transport of RAB8A-positive vesicles to the midbody during cytokinesis (PubMed:22159412).',NULL,NULL,NULL,NULL,NULL),(1652,'UniProt Function',NULL,2096,NULL,'Human saliva appears to contain several cysteine proteinase inhibitors that are immunologically related to cystatin S but that differ in their specificity due to amino acid sequence differences. Cystatin SN, with a pI of 7.5, is a much better inhibitor of papain and dipeptidyl peptidase I than is cystatin S, although both inhibit ficin equally well.',NULL,NULL,NULL,NULL,NULL),(1653,'UniProt Function',NULL,2097,NULL,'Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B.',NULL,NULL,NULL,NULL,NULL),(1654,'UniProt Function',NULL,2098,NULL,'Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins.',NULL,NULL,NULL,NULL,NULL),(1655,'UniProt Function',NULL,2100,NULL,'Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli.',NULL,NULL,NULL,NULL,NULL),(1656,'UniProt Function',NULL,2101,NULL,'Antimicrobial host-defense peptide. Has an antiplasmodial activity.',NULL,NULL,NULL,NULL,NULL),(1657,'UniProt Function',NULL,2102,NULL,'Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and cell growth inhibition, apoptosis, cell survival, angiogenesis, cell migration and maturation. Plays also a role in cell cycle checkpoint control; reduces G1 phase cyclin levels resulting in G0/G1 cell cycle arrest. Mediates signal transduction by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF), interferon (IFN) or lipopolysaccharide (LPS). Modulates the balance between phosphatidylinositol 3-kinase (PI3K)-AKT-mediated cell survival and apoptosis stimulated kinase (MAP3K5)-JNK signaling pathways; sequesters both AKT1 and MAP3K5 and counterbalances the activity of each kinase by modulating their phosphorylation status in response to proinflammatory stimuli. Acts as a regulator of the endoplasmic reticulum (ER) unfolded protein response (UPR) pathway; specifically involved in transduction of the ER stress-response to the JNK cascade through ERN1. Mediates TNF-alpha-induced apoptosis activation by facilitating dissociation of inhibitor 14-3-3 from MAP3K5; recruits the PP2A phosphatase complex which dephosphorylates MAP3K5 on \'Ser-966\', leading to the dissociation of 13-3-3 proteins and activation of the MAP3K5-JNK signaling pathway in endothelial cells. Mediates also TNF/TRAF2-induced MAP3K5-JNK activation, while it inhibits CHUK-NF-kappa-B signaling. Acts a negative regulator in the IFN-gamma-mediated JAK-STAT signaling cascade by inhibiting smooth muscle cell (VSMCs) proliferation and intimal expansion, and thus, prevents graft arteriosclerosis (GA). Acts as a GTPase-activating protein (GAP) for the ADP ribosylation factor 6 (ARF6) and Ras. Promotes hydrolysis of the ARF6-bound GTP and thus, negatively regulates phosphatidylinositol 4,5-bisphosphate (PIP2)-dependent TLR4-TIRAP-MyD88 and NF-kappa-B signaling pathways in endothelial cells in response to lipopolysaccharides (LPS). Binds specifically to phosphatidylinositol 4-phosphate (PtdIns4P) and phosphatidylinositol 3-phosphate (PtdIns3P). In response to vascular endothelial growth factor (VEGFA), acts as a negative regulator of the VEGFR2-PI3K-mediated angiogenic signaling pathway by inhibiting endothelial cell migration and tube formation. In the developing brain, promotes both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex in a glial-dependent locomotion process. Probable downstream effector of the Reelin signaling pathway; promotes Purkinje cell (PC) dendrites development and formation of cerebellar synapses. Functions also as a tumor suppressor protein in prostate cancer progression; prevents cell proliferation and epithelial-to-mesenchymal transition (EMT) through activation of the glycogen synthase kinase-3 beta (GSK3B)-induced beta-catenin and inhibition of PI3K-AKT and Ras-MAPK survival downstream signaling cascades, respectively.',NULL,NULL,NULL,NULL,NULL),(1658,'UniProt Function',NULL,2103,NULL,'Serine/threonine kinase which is involved in the regulation of apoptosis, autophagy, transcription, translation and actin cytoskeleton reorganization. Involved in the regulation of smooth muscle contraction. Regulates both type I (caspase-dependent) apoptotic and type II (caspase-independent) autophagic cell deaths signal, depending on the cellular setting. Involved in regulation of starvation-induced autophagy. Regulates myosin phosphorylation in both smooth muscle and non-muscle cells. In smooth muscle, regulates myosin either directly by phosphorylating MYL12B and MYL9 or through inhibition of smooth muscle myosin phosphatase (SMPP1M) via phosphorylation of PPP1R12A; the inhibition of SMPP1M functions to enhance muscle responsiveness to Ca(2+) and promote a contractile state. Phosphorylates MYL12B in non-muscle cells leading to reorganization of actin cytoskeleton. Isoform 2 can phosphorylate myosin, PPP1R12A and MYL12B. Overexpression leads to condensation of actin stress fibers into thick bundles. Involved in actin filament focal adhesion dynamics. The function in both reorganization of actin cytoskeleton and focal adhesion dissolution is modulated by RhoD. Positively regulates canonical Wnt/beta-catenin signaling through interaction with NLK and TCF7L2. Phosphorylates RPL13A on \'Ser-77\' upon interferon-gamma activation which is causing RPL13A release from the ribosome, RPL13A association with the GAIT complex and its subsequent involvement in transcript-selective translation inhibition. Enhances transcription from AR-responsive promoters in a hormone- and kinase-dependent manner. Involved in regulation of cell cycle progression and cell proliferation. May be a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(1659,'UniProt Function',NULL,2104,NULL,'May modulate the activity of casein kinase-1. Inhibits CSNK1D autophosphorylation (in vitro).',NULL,NULL,NULL,NULL,NULL),(1660,'UniProt Function',NULL,2105,NULL,'Adapter protein that binds F-actin and DNM1, and thereby plays a role in receptor-mediated endocytosis. Plays a role in the reorganization of the actin cytoskeleton, formation of cell projections, such as neurites, in neuron morphogenesis and synapse formation via its interaction with WASL and COBL. Does not bind G-actin and promote actin polymerization by itself. Required for the formation of organized podosome rosettes (By similarity). May act as a common effector of antigen receptor-signaling pathways in leukocytes. Acts as a key component of the immunological synapse that regulates T-cell activation by bridging TCRs and the actin cytoskeleton to gene activation and endocytic processes.',NULL,NULL,NULL,NULL,NULL),(1661,'UniProt Function',NULL,2106,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1662,'UniProt Function',NULL,2107,NULL,'May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(1663,'UniProt Function',NULL,2108,NULL,'Could have a role in patterning the central nervous system during embryogenesis. Has a key role in regulating the distinct phenotypic features that distinguish two major classes of ventral interneurons, V0 and V1 neurons. Regulates the transcription factor profile, neurotransmitter phenotype, intraspinal migratory path and axonal trajectory of V0 neurons, features that differentiate them from an adjacent set of V1 neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(1664,'UniProt Function',NULL,2110,NULL,'Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles and kinetochores.',NULL,NULL,NULL,NULL,NULL),(1665,'UniProt Function',NULL,2111,NULL,'Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes. Probably involved in the microtubule-dependent transport of pericentrin. Is required for progress through the spindle assembly checkpoint. The phosphorylated form appears to be involved in the selective removal of MAD1L1 and MAD1L2 but not BUB1B from kinetochores.',NULL,NULL,NULL,NULL,NULL),(1666,'UniProt Function',NULL,2112,NULL,'May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(1667,'UniProt Function',NULL,2113,NULL,'Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acids with multiple methyl side chains are produced. In peroxisomes it may be involved in degrading intraperoxisomal malonyl-CoA, which is generated by the peroxisomal beta-oxidation of odd chain-length dicarboxylic fatty acids. Plays a role in the metabolic balance between glucose and lipid oxidation in muscle independent of alterations in insulin signaling. May play a role in controlling the extent of ischemic injury by promoting glucose oxidation.',NULL,NULL,NULL,NULL,NULL),(1668,'UniProt Function',NULL,2114,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(1669,'UniProt Function',NULL,2115,NULL,'Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation. Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA. Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH-RA. Essential for postnatal survival. Plays a central role in germ cell development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints.',NULL,NULL,NULL,NULL,NULL),(1670,'UniProt Function',NULL,2115,NULL,'Has also a significant activity in oxidation of tazarotenic acid and may therefore metabolize that xenobiotic in vivo.',NULL,NULL,NULL,NULL,NULL),(1671,'UniProt Function',NULL,2116,NULL,'Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes (PubMed:14674885). Involved in the TNF-alpha receptor signaling pathway in a calcium-dependent manner (PubMed:14674885). Exhibits calcium-dependent phospholipid binding properties (PubMed:9430674, PubMed:19539605). Plays a role in neuronal progenitor cell differentiation; induces neurite outgrowth via a AKT-dependent signaling cascade and calcium-independent manner (PubMed:23263657, PubMed:25450385). May recruit target proteins to the cell membrane in a calcium-dependent manner (PubMed:12522145). May function in membrane trafficking (PubMed:9430674). Involved in TNF-alpha-induced NF-kappa-B transcriptional repression by inducing endoprotease processing of the transcription factor NF-kappa-B p65/RELA subunit (PubMed:18212740). Also induces endoprotease processing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL (PubMed:18212740).',NULL,NULL,NULL,NULL,NULL),(1672,'UniProt Function',NULL,2117,NULL,'Sequence-specific RNA-binding protein that regulates mRNA cytoplasmic polyadenylation and translation initiation during oocyte maturation, early development and at postsynapse sites of neurons. Binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5\'-UUUUUAU-3\') within the mRNA 3\'-UTR. RNA binding results in a clear conformational change analogous to the Venus fly trap mechanism (PubMed:24990967). In absence of phosphorylation and in association with TACC3 is also involved as a repressor of translation of CPE-containing mRNA; a repression that is relieved by phosphorylation or degradation (By similarity). Involved in the transport of CPE-containing mRNA to dendrites; those mRNAs may be transported to dendrites in a translationally dormant form and translationally activated at synapses (By similarity). Its interaction with APLP1 promotes local CPE-containing mRNA polyadenylation and translation activation (By similarity). Induces the assembly of stress granules in the absence of stress. Required for cell cycle progression, specifically for prophase entry (PubMed:26398195).',NULL,NULL,NULL,NULL,NULL),(1673,'UniProt Function',NULL,2119,NULL,'Catalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes.',NULL,NULL,NULL,NULL,NULL),(1674,'UniProt Function',NULL,2121,NULL,'Catalyzes the synthesis of cardiolipin (CL) (diphosphatidylglycerol) by specifically transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol (PG). CL is a key phospholipid in mitochondrial membranes and plays important roles in maintaining the functional integrity and dynamics of mitochondria under both optimal and stress conditions.',NULL,NULL,NULL,NULL,NULL),(1675,'UniProt Function',NULL,2122,NULL,'Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF factors through replacement of GDP with GTP.',NULL,NULL,NULL,NULL,NULL),(1676,'UniProt Function',NULL,2124,NULL,'Possible architectural role during spermatogenesis. May be involved in spermatid differentiation.',NULL,NULL,NULL,NULL,NULL),(1677,'UniProt Function',NULL,2125,NULL,'Possible architectural role during spermatogenesis. May be involved in spermatid differentiation.',NULL,NULL,NULL,NULL,NULL),(1678,'UniProt Function',NULL,2126,NULL,'Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit is an adapter between EIF4E and FMR1. Promotes the translation repression activity of FMR1 in brain probably by mediating its association with EIF4E and mRNA (By similarity). Regulates formation of membrane ruffles and lamellipodia. Plays a role in axon outgrowth. Binds to F-actin but not to RNA. Part of the WAVE complex that regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. Regulator of epithelial morphogenesis. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). May act as an invasion suppressor in cancers.',NULL,NULL,NULL,NULL,NULL),(1679,'UniProt Function',NULL,2128,NULL,'This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis.',NULL,NULL,NULL,NULL,NULL),(1680,'UniProt Function',NULL,2130,NULL,'RNA-binding protein, which is essential for gametogenesis in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3\'-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translation of key transcripts (By similarity).',NULL,NULL,NULL,NULL,NULL),(1681,'UniProt Function',NULL,2131,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1682,'UniProt Function',NULL,2132,NULL,'Calretinin is a calcium-binding protein which is abundant in auditory neurons.',NULL,NULL,NULL,NULL,NULL),(1683,'UniProt Function',NULL,2133,NULL,'Possible morphogenetic cytoskeletal element in spermiogenic differentiation.',NULL,NULL,NULL,NULL,NULL),(1684,'UniProt Function',NULL,2134,NULL,'During spermatogenesis, may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Required for sperm fertility (By similarity). CALR3 capacity for calcium-binding may be absent or much lower than that of CALR.',NULL,NULL,NULL,NULL,NULL),(1685,'UniProt Function',NULL,2135,NULL,'Reversible hydration of carbon dioxide. Low activity.',NULL,NULL,NULL,NULL,NULL),(1686,'UniProt Function',NULL,2136,NULL,'Calcium-regulated non-lysosomal thiol-protease.',NULL,NULL,NULL,NULL,NULL),(1687,'UniProt Function',NULL,2138,NULL,'Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity.',NULL,NULL,NULL,NULL,NULL),(1688,'UniProt Function',NULL,2139,NULL,'Calcium-sensitive protein which reversibly blocks the barbed ends of actin filaments but does not sever preformed actin filaments. May play an important role in macrophage function. May play a role in regulating cytoplasmic and/or nuclear structures through potential interactions with actin. May bind DNA.',NULL,NULL,NULL,NULL,NULL),(1689,'UniProt Function',NULL,2140,NULL,'Activates NF-kappa-B via BCL10 and IKK.',NULL,NULL,NULL,NULL,NULL),(1690,'UniProt Function',NULL,2142,NULL,'Plays a role in inhibiting the effects of BCL10-induced activation of NF-kappa-B. May inhibit the phosphorylation of BCL10 in a CARD-dependent manner.',NULL,NULL,NULL,NULL,NULL),(1691,'UniProt Function',NULL,2144,NULL,'Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP).',NULL,NULL,NULL,NULL,NULL),(1692,'UniProt Function',NULL,2144,NULL,'Isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9.',NULL,NULL,NULL,NULL,NULL),(1693,'UniProt Function',NULL,2145,NULL,'May have a specific function in the mechanism or regulation of T-cell cytolytic activity.',NULL,NULL,NULL,NULL,NULL),(1694,'UniProt Function',NULL,2146,NULL,'Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity.',NULL,NULL,NULL,NULL,NULL),(1695,'UniProt Function',NULL,2147,NULL,'Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues (PubMed:18056712, PubMed:18191225, PubMed:19726876). Core component of the CAVIN complex which is essential for recruitment of the complex to the caveolae in presence of calveolin-1 (CAV1). Essential for normal oligomerization of CAV1. Promotes ribosomal transcriptional activity in response to metabolic challenges in the adipocytes and plays an important role in the formation of the ribosomal transcriptional loop. Dissociates transcription complexes paused by DNA-bound TTF1, thereby releasing both RNA polymerase I and pre-RNA from the template (By similarity).',NULL,NULL,NULL,NULL,NULL),(1696,'UniProt Function',NULL,2148,NULL,'Plays an important role in caveolar biogenesis and morphology. Regulates caveolae morphology by inducing membrane curvature within caveolae (PubMed:19525939). Plays a role in caveola formation in a tissue-specific manner. Required for the formation of caveolae in the lung and fat endothelia but not in the heart endothelia. Negatively regulates the size or stability of CAVIN complexes in the lung endothelial cells. May play a role in targeting PRKCA to caveolae (By similarity).',NULL,NULL,NULL,NULL,NULL),(1697,'UniProt Function',NULL,2149,NULL,'Calcium-binding protein. May be involved in the control of sperm flagellar movement.',NULL,NULL,NULL,NULL,NULL),(1698,'UniProt Function',NULL,2151,NULL,'Metalloprotease that could be involved in the histone hyperacetylation pathway (PubMed:10383164). Releases a C-terminal amino acid, with preference for -Phe, -Leu, -Ile, -Met, -Tyr and -Val (PubMed:20385563).',NULL,NULL,NULL,NULL,NULL),(1699,'UniProt Function',NULL,2152,NULL,'Removes residual C-terminal Arg or Lys remaining after initial endoprotease cleavage during prohormone processing. Processes proinsulin.',NULL,NULL,NULL,NULL,NULL),(1700,'UniProt Function',NULL,2153,NULL,'E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:20657603). May operate on tyrosine-phosphorylated SRC substrates (PubMed:22252131).',NULL,NULL,NULL,NULL,NULL),(1701,'UniProt Function',NULL,2154,NULL,'Protects the body from potent vasoactive and inflammatory peptides containing C-terminal Arg or Lys (such as kinins or anaphylatoxins) which are released into the circulation.',NULL,NULL,NULL,NULL,NULL),(1702,'UniProt Function',NULL,2155,NULL,'Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5.',NULL,NULL,NULL,NULL,NULL),(1703,'UniProt Function',NULL,2156,NULL,'Seems to be involved in transcriptional silencing in heterochromatin-like complexes. Recognizes and binds histone H3 tails methylated at \'Lys-9\', leading to epigenetic repression. May contribute to the association of the heterochromatin with the inner nuclear membrane through its interaction with lamin B receptor (LBR). Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins. Contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 \'Lys-9\' trimethylation, mediates the recruitment of the methyltransferases SUV39H1 and/or SUV39H2 by the PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1. Mediates the recruitement of NIPBL to sites of DNA damage at double-strand breaks (DSBs) (PubMed:28167679).',NULL,NULL,NULL,NULL,NULL),(1704,'UniProt Function',NULL,2157,NULL,'Chemokine that induces chemotaxis of cells expressing CCR5 or CCR1. Inhibits HIV replication in peripheral blood monocytes that express CCR5.',NULL,NULL,NULL,NULL,NULL),(1705,'UniProt Function',NULL,2159,NULL,'In extracellular secreted form, promotes proliferation and activation of CD8(+) T cells, suggesting a cytokine-like function (PubMed:25125657). Enhances cytotoxic anti-tumor activity of CD8(+) T cells (PubMed:25125657). May inhibit ERK and JNK signaling activity (PubMed:18087676, PubMed:23070808). May suppress cell migration and invasion activity, via its effects on ERK and JNK signaling (PubMed:23070808).',NULL,NULL,NULL,NULL,NULL),(1706,'UniProt Function',NULL,2159,NULL,'In the nucleus, enhances stability of the PCAF histone acetyltransferase (HAT) complex member TADA2A and thus promotes PCAF-mediated H3K14 and H4K8 HAT activity. May inhibit TADA2A-mediated TP53/p53 \'Lys-321\' acetylation, leading to reduced TP53 stability and transcriptional activity. May also promote TADA2A-mediated XRCC6 acetylation thus facilitating cell apoptosis in response to DNA damage.',NULL,NULL,NULL,NULL,NULL),(1707,'UniProt Function',NULL,2160,NULL,'Component of centriolar satellites contributing to primary cilium formation.',NULL,NULL,NULL,NULL,NULL),(1708,'UniProt Function',NULL,2165,NULL,'Acts as a positive regulator of T-cell maturation and inflammatory function. Required for several functions of T-cells, in both the CD4(+) and the CD8(+) compartments and this includes expression of cell surface markers of activation, proliferation, and cytokine production in response to specific or non-specific stimulation (By similarity). Enhances NK cell cytotoxicity by positively regulating polarization of microtubule-organizing center (MTOC) to cytotoxic synapse, lytic granule transport along microtubules, and dynein-mediated clustering to MTOC (PubMed:25762780). Interacts with HSPA5 and stabilizes the interaction between HSPA5 and ERN1, leading to suppression of ERN1-induced JNK activation and endoplasmic reticulum stress-induced apoptosis (PubMed:21289099).',NULL,NULL,NULL,NULL,NULL),(1709,'UniProt Function',NULL,2166,NULL,'Dual-specificity phosphatase. Required for centrosome separation and productive cytokinesis during cell division. Dephosphorylates SIRT2 around early anaphase. May dephosphorylate the APC subunit FZR1/CDH1, thereby promoting APC-FZR1 dependent degradation of mitotic cyclins and subsequent exit from mitosis. Required for normal hearing (PubMed:29293958).',NULL,NULL,NULL,NULL,NULL),(1710,'UniProt Function',NULL,2167,NULL,'Acetylates histones, giving a specific tag for transcriptional activation. Also acetylates non-histone proteins, like NCOA3 and FOXO1. Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers. Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493).',NULL,NULL,NULL,NULL,NULL),(1711,'UniProt Function',NULL,2170,NULL,'Microtubule-binding protein required for ciliogenesis (PubMed:28235840). May function in ciliogenesis by mediating the transport of proteins like BBS4 to the cilium, but also through the organization of the centriolar satellites (PubMed:28235840). Plays a role in retina morphogenesis and/or homeostasis (By similarity).',NULL,NULL,NULL,NULL,NULL),(1712,'UniProt Function',NULL,2173,NULL,'Essential for the control of the cell cycle at the G1/S (start) transition.',NULL,NULL,NULL,NULL,NULL),(1713,'UniProt Function',NULL,2174,NULL,'Essential for the control of the cell cycle at the G2/M (mitosis) transition.',NULL,NULL,NULL,NULL,NULL),(1714,'UniProt Function',NULL,2175,NULL,'May play a role in growth regulation and in negative regulation of cell cycle progression.',NULL,NULL,NULL,NULL,NULL),(1715,'UniProt Function',NULL,2176,NULL,'Positive regulatory subunit of the cyclin-dependent kinases CDK14/PFTK1 and CDK16. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by recruiting CDK14/PFTK1 to the plasma membrane and promoting phosphorylation of LRP6, leading to the activation of the Wnt signaling pathway. Recruits CDK16 to the plasma membrane. Isoform 3 might play a role in the activation of MYC-mediated transcription.',NULL,NULL,NULL,NULL,NULL),(1716,'UniProt Function',NULL,2177,NULL,'Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils. May play a role in neoplasia and inflammatory host responses. This protein can bind heparin. The processed form MCP-2(6-76) does not show monocyte chemotactic activity, but inhibits the chemotactic effect most predominantly of CCL7, and also of CCL2 and CCL5 and CCL8.',NULL,NULL,NULL,NULL,NULL),(1717,'UniProt Function',NULL,2178,NULL,'Inhibits hemopoiesis and stimulates chemotaxis. Chemotactic in vitro for thymocytes and activated T-cells, but not for B-cells, macrophages, or neutrophils. Shows preferential activity towards naive T-cells. May play a role in mediating homing of lymphocytes to secondary lymphoid organs. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4.',NULL,NULL,NULL,NULL,NULL),(1718,'UniProt Function',NULL,2179,NULL,'Receptor for the CCL2, CCL7 and CCL13 chemokines (PubMed:23408426). Receptor for the beta-defensin DEFB106A/DEFB106B (PubMed:23938203). Transduces a signal by increasing intracellular calcium ion levels (By similarity). Upon CCL2 ligation, mediates chemotaxis and migration induction through the activation of the PI3K cascade, the small G protein Rac and lamellipodium protrusion (Probable).',NULL,NULL,NULL,NULL,NULL),(1719,'UniProt Function',NULL,2179,NULL,'(Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.',NULL,NULL,NULL,NULL,NULL),(1720,'UniProt Function',NULL,2180,NULL,'Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696).',NULL,NULL,NULL,NULL,NULL),(1721,'UniProt Function',NULL,2181,NULL,'Actin- and myosin-binding protein implicated in the regulation of actomyosin interactions in smooth muscle and nonmuscle cells (could act as a bridge between myosin and actin filaments). Stimulates actin binding of tropomyosin which increases the stabilization of actin filament structure. In muscle tissues, inhibits the actomyosin ATPase by binding to F-actin. This inhibition is attenuated by calcium-calmodulin and is potentiated by tropomyosin. Interacts with actin, myosin, two molecules of tropomyosin and with calmodulin. Also play an essential role during cellular mitosis and receptor capping. Involved in Schwann cell migration during peripheral nerve regeneration (By similarity).',NULL,NULL,NULL,NULL,NULL),(1722,'UniProt Function',NULL,2182,NULL,'F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. Plays a role in the regulation of cell morphology and cytoskeletal organization.',NULL,NULL,NULL,NULL,NULL),(1723,'UniProt Function',NULL,2183,NULL,'Regulates DNA damage response in a dose-dependent manner through a number of signaling pathways involved in cell proliferation, apoptosis and senescence.',NULL,NULL,NULL,NULL,NULL),(1724,'UniProt Function',NULL,2184,NULL,'Docking protein that plays a role in tyrosine kinase-based signaling related to cell adhesion and cell spreading. Regulates PTK2/FAK1 activity, focal adhesion integrity, and cell spreading.',NULL,NULL,NULL,NULL,NULL),(1725,'UniProt Function',NULL,2186,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:21282530). PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility. Possibly contributes to the target selectivity of the PRC1 complex by binding specific regions of chromatin (PubMed:18927235). Recruitment to chromatin might occur in an H3K27me3-independent fashion (By similarity). May have a PRC1-independent function in embryonic stem cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(1726,'UniProt Function',NULL,2189,NULL,'May play an important role in cortical development, especially in the maintenance of radial glia.',NULL,NULL,NULL,NULL,NULL),(1727,'UniProt Function',NULL,2196,NULL,'May act as a scaffold to regulate the recruitment and assembly of spindle midzone components. Required for the localization of AURKB and PLK1 to the spindle midzone.',NULL,NULL,NULL,NULL,NULL),(1728,'UniProt Function',NULL,2197,NULL,'Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis.',NULL,NULL,NULL,NULL,NULL),(1729,'UniProt Function',NULL,2198,NULL,'This enzyme scavenges exogenous and endogenous cytidine and 2\'-deoxycytidine for UMP synthesis.',NULL,NULL,NULL,NULL,NULL),(1730,'UniProt Function',NULL,2199,NULL,'F-box-like protein which is required for entry into mitosis. Acts by participating in E3 ligase complexes that mediate the ubiquitination and degradation of WEE1 kinase at G2/M phase (By similarity).',NULL,NULL,NULL,NULL,NULL),(1731,'UniProt Function',NULL,2200,NULL,'Required for efficient formation of myofibers in regenerating muscle at the level of cell fusion. May be involved in growth regulation in hematopoietic cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(1732,'UniProt Function',NULL,2201,NULL,'Protein kinase involved in the regulation of transcription. Member of the cyclin-dependent kinase pair (CDK9/cyclin-T) complex, also called positive transcription elongation factor b (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A, SUPT5H and RDBP. This complex is inactive when in the 7SK snRNP complex form. Phosphorylates EP300, MYOD1, RPB1/POLR2A and AR, and the negative elongation factors DSIF and NELF. Regulates cytokine inducible transcription networks by facilitating promoter recognition of target transcription factors (e.g. TNF-inducible RELA/p65 activation and IL-6-inducible STAT3 signaling). Promotes RNA synthesis in genetic programs for cell growth, differentiation and viral pathogenesis. P-TEFb is also involved in cotranscriptional histone modification, mRNA processing and mRNA export. Modulates a complex network of chromatin modifications including histone H2B monoubiquitination (H2Bub1), H3 lysine 4 trimethylation (H3K4me3) and H3K36me3; integrates phosphorylation during transcription with chromatin modifications to control co-transcriptional histone mRNA processing. The CDK9/cyclin-K complex has also a kinase activity towards CTD of RNAP II and can substitute for CDK9/cyclin-T P-TEFb in vitro. Replication stress response protein; the CDK9/cyclin-K complex is required for genome integrity maintenance, by promoting cell cycle recovery from replication arrest and limiting single-stranded DNA amount in response to replication stress, thus reducing the breakdown of stalled replication forks and avoiding DNA damage. In addition, probable function in DNA repair of isoform 2 via interaction with KU70/XRCC6. Promotes cardiac myocyte enlargement. RPB1/POLR2A phosphorylation on \'Ser-2\' in CTD activates transcription. AR phosphorylation modulates AR transcription factor promoter selectivity and cell growth. DSIF and NELF phosphorylation promotes transcription by inhibiting their negative effect. The phosphorylation of MYOD1 enhances its transcriptional activity and thus promotes muscle differentiation.',NULL,NULL,NULL,NULL,NULL),(1733,'UniProt Function',NULL,2202,NULL,'May act as a negative regulator of ASF1 in chromatin assembly.',NULL,NULL,NULL,NULL,NULL),(1734,'UniProt Function',NULL,2203,NULL,'Protein kinase that plays a role in vesicle-mediated transport processes and exocytosis. Regulates GH1 release by brain neurons. Phosphorylates NSF, and thereby regulates NSF oligomerization. Required for normal spermatogenesis. Regulates neuron differentiation and dendrite development (By similarity). Plays a role in the regulation of insulin secretion in response to changes in blood glucose levels. Can phosphorylate CCNY at \'Ser-336\' (in vitro).',NULL,NULL,NULL,NULL,NULL),(1735,'UniProt Function',NULL,2204,NULL,'Required for both DNA replication and mitosis (PubMed:11125146, PubMed:22581055, PubMed:21856198, PubMed:14993212, PubMed:26842564). DNA replication licensing factor, required for pre-replication complex assembly. Cooperates with CDC6 and the origin recognition complex (ORC) during G1 phase of the cell cycle to promote the loading of the mini-chromosome maintenance (MCM) complex onto DNA to generate pre-replication complexes (pre-RC)(PubMed:14672932). Required also for mitosis by promoting stable kinetochore-microtubule attachments (PubMed:22581055). Potential oncogene (By similarity).',NULL,NULL,NULL,NULL,NULL),(1736,'UniProt Function',NULL,2205,NULL,'Plays a role in microtubule organization (PubMed:15616186). Required for centriole subdistal appendage assembly (PubMed:28422092).',NULL,NULL,NULL,NULL,NULL),(1737,'UniProt Function',NULL,2208,NULL,'As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor.',NULL,NULL,NULL,NULL,NULL),(1738,'UniProt Function',NULL,2209,NULL,'Implicated in the suppression of cell death. Interacts with the BCL-2 and adenovirus E1B 19 kDa proteins.',NULL,NULL,NULL,NULL,NULL),(1739,'UniProt Function',NULL,2210,NULL,'Could induce apoptosis in a BH3 domain-dependent manner. The direct interaction network of Bcl-2 family members may play a key role in modulation RTL10/BOP intrinsic apoptotic signaling activity.',NULL,NULL,NULL,NULL,NULL),(1740,'UniProt Function',NULL,2211,NULL,'May be a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death.',NULL,NULL,NULL,NULL,NULL),(1741,'UniProt Function',NULL,2212,NULL,'Induces cartilage and bone formation.',NULL,NULL,NULL,NULL,NULL),(1742,'UniProt Function',NULL,2213,NULL,'Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion.',NULL,NULL,NULL,NULL,NULL),(1743,'UniProt Function',NULL,2215,NULL,'Chromatin reader protein that recognizes and binds acetylated histones and plays a key role in transmission of epigenetic memory across cell divisions and transcription regulation. Remains associated with acetylated chromatin throughout the entire cell cycle and provides epigenetic memory for postmitotic G1 gene transcription by preserving acetylated chromatin status and maintaining high-order chromatin structure. During interphase, plays a key role in regulating the transcription of signal-inducible genes by associating with the P-TEFb complex and recruiting it to promoters: BRD4 is required to form the transcriptionally active P-TEFb complex by displacing negative regulators such as HEXIM1 and 7SKsnRNA complex from P-TEFb, thereby transforming it into an active form that can then phosphorylate the C-terminal domain (CTD) of RNA polymerase II. Promotes phosphorylation of \'Ser-2\' of the C-terminal domain (CTD) of RNA polymerase II. According to a report, directly acts as an atypical protein kinase and mediates phosphorylation of \'Ser-2\' of the C-terminal domain (CTD) of RNA polymerase II; these data however need additional evidences in vivo (PubMed:22509028). In addition to acetylated histones, also recognizes and binds acetylated RELA, leading to further recruitment of the P-TEFb complex and subsequent activation of NF-kappa-B. Also acts as a regulator of p53/TP53-mediated transcription: following phosphorylation by CK2, recruited to p53/TP53 specific target promoters.',NULL,NULL,NULL,NULL,NULL),(1744,'UniProt Function',NULL,2215,NULL,'Isoform B: Acts as a chromatin insulator in the DNA damage response pathway. Inhibits DNA damage response signaling by recruiting the condensin-2 complex to acetylated histones, leading to chromatin structure remodeling, insulating the region from DNA damage response by limiting spreading of histone H2AFX/H2A.x phosphorylation.',NULL,NULL,NULL,NULL,NULL),(1745,'UniProt Function',NULL,2216,NULL,'When associated with NACA, prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. BTF3 is also a general transcription factor that can form a stable complex with RNA polymerase II. Required for the initiation of transcription.',NULL,NULL,NULL,NULL,NULL),(1746,'UniProt Function',NULL,2218,NULL,'Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages.',NULL,NULL,NULL,NULL,NULL),(1747,'UniProt Function',NULL,2219,NULL,'C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.',NULL,NULL,NULL,NULL,NULL),(1748,'UniProt Function',NULL,2221,NULL,'Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity).',NULL,NULL,NULL,NULL,NULL),(1749,'UniProt Function',NULL,2223,NULL,'Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the \"low-voltage activated (LVA)\" group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation (PubMed:9670923, PubMed:9930755, PubMed:27149520). T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons (PubMed:15048902). In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216).',NULL,NULL,NULL,NULL,NULL),(1750,'UniProt Function',NULL,2224,NULL,'Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the \'high-voltage activated\' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA (AC P54282) (By similarity). They are however insensitive to dihydropyridines (DHP).',NULL,NULL,NULL,NULL,NULL),(1751,'UniProt Function',NULL,2225,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(1752,'UniProt Function',NULL,2226,NULL,'Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway.',NULL,NULL,NULL,NULL,NULL),(1753,'UniProt Function',NULL,2227,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(1754,'UniProt Function',NULL,2228,NULL,'CGRP induces vasodilation. It dilates a variety of vessels including the coronary, cerebral and systemic vasculature. Its abundance in the CNS also points toward a neurotransmitter or neuromodulator role. It also elevates platelet cAMP.',NULL,NULL,NULL,NULL,NULL),(1755,'UniProt Function',NULL,2229,NULL,'Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a \'216-Asp-|-Gly-217\' bond. Overexpression promotes programmed cell death.',NULL,NULL,NULL,NULL,NULL),(1756,'UniProt Function',NULL,2230,NULL,'May be involved in apoptosis.',NULL,NULL,NULL,NULL,NULL),(1757,'UniProt Function',NULL,2231,NULL,'Mediator of programmed cell death (apoptosis). During non-canonical inflammasome activation, cuts CGAS and may play a role in the regulation of antiviral innate immune activation (PubMed:28314590).',NULL,NULL,NULL,NULL,NULL),(1758,'UniProt Function',NULL,2232,NULL,'Important for the overall degradation of proteins in lysosomes.',NULL,NULL,NULL,NULL,NULL),(1759,'UniProt Function',NULL,2233,NULL,'Thiol protease. Key protease responsible for the removal of the invariant chain from MHC class II molecules. The bond-specificity of this proteinase is in part similar to the specificities of cathepsin L.',NULL,NULL,NULL,NULL,NULL),(1760,'UniProt Function',NULL,2234,NULL,'Cysteine protease. May have an important role in corneal physiology.',NULL,NULL,NULL,NULL,NULL),(1761,'UniProt Function',NULL,2239,NULL,'Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates caspase-3, -4, -6, -7, -8, and -9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC.',NULL,NULL,NULL,NULL,NULL),(1762,'UniProt Function',NULL,2239,NULL,'Isoform 7 can enhance NF-kappaB activity but promotes only slight apoptosis.',NULL,NULL,NULL,NULL,NULL),(1763,'UniProt Function',NULL,2239,NULL,'Isoform C is proteolytically inactive.',NULL,NULL,NULL,NULL,NULL),(1764,'UniProt Function',NULL,2240,NULL,'Negatively regulates voltage-gated calcium channels by preventing the interaction between their alpha and beta subunits. Thereby, negatively regulates calcium channels activity at the plasma membrane and indirectly inhibits calcium-regulated exocytosis.',NULL,NULL,NULL,NULL,NULL),(1765,'UniProt Function',NULL,2242,NULL,'May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell cycle progression (By similarity).',NULL,NULL,NULL,NULL,NULL),(1766,'UniProt Function',NULL,2243,NULL,'Cleaves C-terminal arginine or lysine residues from biologically active peptides such as kinins or anaphylatoxins in the circulation thereby regulating their activities. Down-regulates fibrinolysis by removing C-terminal lysine residues from fibrin that has already been partially degraded by plasmin.',NULL,NULL,NULL,NULL,NULL),(1767,'UniProt Function',NULL,2244,NULL,'May be involved in synaptic functions in the CNS. May play a role in CBLN3 export from the endoplasmic reticulum and secretion (By similarity).',NULL,NULL,NULL,NULL,NULL),(1768,'UniProt Function',NULL,2245,NULL,'Carboxypeptidase which preferentially cleaves C-terminal acidic residues from peptides and proteins. Can also cleave C-terminal hydrophobic amino acids, with a preference for small residues over large residues.',NULL,NULL,NULL,NULL,NULL),(1769,'UniProt Function',NULL,2246,NULL,'Adapter protein that functions as a negative regulator of many signaling pathways that are triggered by activation of cell surface receptors. Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, EGFR, CSF1R, EPHA8 and KDR and terminates signaling. Recognizes membrane-bound HCK, SRC and other kinases of the SRC family and mediates their ubiquitination and degradation. Participates in signal transduction in hematopoietic cells. Plays an important role in the regulation of osteoblast differentiation and apoptosis. Essential for osteoclastic bone resorption. The \'Tyr-731\' phosphorylated form induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3. In association with CBLB, required for proper feedback inhibition of ciliary platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway via ubiquitination and internalization of PDGFRA (By similarity).',NULL,NULL,NULL,NULL,NULL),(1770,'UniProt Function',NULL,2247,NULL,'May be involved in the regulation of cell migration.',NULL,NULL,NULL,NULL,NULL),(1771,'UniProt Function',NULL,2254,NULL,'Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation (By similarity). May be involved in apoptosis signaling in the presence of the reinoid CD437. Apoptosis induction involves sequestration of 14-3-3 protein(s) and mediated altered expression of multiple cell cycle regulatory genes including MYC, CCNB1 and CDKN1A. Plays a role in cell cycle progression and/or cell proliferation (PubMed:12816952). In association with CALCOCO1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). Can act as a both a coactivator and corepressor of AR-mediated transcription. Contributes to chromatin looping and AR transcription complex assembly by stabilizing AR-GATA2 association on chromatin and facilitating MED1 and RNA polymerase II recruitment to AR-binding sites. May play an important role in the growth and tumorigenesis of prostate cancer cells (PubMed:23887938).',NULL,NULL,NULL,NULL,NULL),(1772,'UniProt Function',NULL,2258,NULL,'Promotes cell adhesion and matrix assembly.',NULL,NULL,NULL,NULL,NULL),(1773,'UniProt Function',NULL,2259,NULL,'Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.',NULL,NULL,NULL,NULL,NULL),(1774,'UniProt Function',NULL,2262,NULL,'Receptor for cholecystokinin. Mediates pancreatic growth and enzyme secretion, smooth muscle contraction of the gall bladder and stomach. Has a 1000-fold higher affinity for CCK rather than for gastrin. It modulates feeding and dopamine-induced behavior in the central and peripheral nervous system. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(1775,'UniProt Function',NULL,2263,NULL,'Regulates CDK7, the catalytic subunit of the CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throughout the cell cycle.',NULL,NULL,NULL,NULL,NULL),(1776,'UniProt Function',NULL,2265,NULL,'Essential for the control of the cell cycle at the G2/M (mitosis) transition.',NULL,NULL,NULL,NULL,NULL),(1777,'UniProt Function',NULL,2267,NULL,'Receptor for the MIP-3-beta chemokine. Probable mediator of EBV effects on B-lymphocytes or of normal lymphocyte functions.',NULL,NULL,NULL,NULL,NULL),(1778,'UniProt Function',NULL,2269,NULL,'Antigen-presenting protein that binds self and non-self glycolipids and presents them to T-cell receptors on natural killer T-cells.',NULL,NULL,NULL,NULL,NULL),(1779,'UniProt Function',NULL,2270,NULL,'Acts in concert with MON1A, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (PubMed:23084991).',NULL,NULL,NULL,NULL,NULL),(1780,'UniProt Function',NULL,2271,NULL,'Plays a role in B-cell proliferation and differentiation.',NULL,NULL,NULL,NULL,NULL),(1781,'UniProt Function',NULL,2275,NULL,'Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175).',NULL,NULL,NULL,NULL,NULL),(1782,'UniProt Function',NULL,2276,NULL,'Involved in the transcriptional regulation of multiple genes expressed in the intestinal epithelium. Important in broad range of functions from early differentiation to maintenance of the intestinal epithelial lining of both the small and large intestine. Binds preferentially to methylated DNA (PubMed:28473536).',NULL,NULL,NULL,NULL,NULL),(1783,'UniProt Function',NULL,2277,NULL,'specific inhibitor of the cell-cycle kinase CDK2.',NULL,NULL,NULL,NULL,NULL),(1784,'UniProt Function',NULL,2278,NULL,'Plays a role in regulating the self-renewal of embryonic stem cells (ESCs) and in maintaining cell survival during terminal differentiation of ESCs. Regulates microtubule organization of metaphase II oocytes (By similarity). Inhibits cell cycle G1/S phase transition by repressing CDK2 expression and activation; represses CDK2 activation by inhibiting its interaction with cyclin E and A (PubMed:23781148).',NULL,NULL,NULL,NULL,NULL),(1785,'UniProt Function',NULL,2279,NULL,'Participates in cytokinesis (PubMed:19799413). Necessary for microtubules and mitotic spindle organization (PubMed:24867236). Involved in primary cilium formation (PubMed:24867236).',NULL,NULL,NULL,NULL,NULL),(1786,'UniProt Function',NULL,2280,NULL,'Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine.',NULL,NULL,NULL,NULL,NULL),(1787,'UniProt Function',NULL,2281,NULL,'Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the cilia base. Required to mediate CEP290 association with microtubules.',NULL,NULL,NULL,NULL,NULL),(1788,'UniProt Function',NULL,2283,NULL,'Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide. Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells.',NULL,NULL,NULL,NULL,NULL),(1789,'UniProt Function',NULL,2286,NULL,'Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum (PubMed:15556625). Seems to play a role in keratinocyte differentiation and is required for cornification. Regulates maturation of the epidermis by proteolytically processing filaggrin (By similarity). In vitro has a preference for the substrate [WY]-X-X-D motif and is active on the synthetic caspase substrate WEHD-ACF (PubMed:16854378, PubMed:19960512). Involved in processing of prosaposin in the epidermis (By similarity). May be involved in retinal pigment epithelium cell barrier function (PubMed:25121097). Involved in DNA degradation in differentiated keratinocytes probably by cleaving DFFA/ICAD leading to liberation of DFFB/CAD (PubMed:24743736).',NULL,NULL,NULL,NULL,NULL),(1790,'UniProt Function',NULL,2287,NULL,'Modulates the morphology of formed caveolae in cardiomyocytes, but is not required for caveolar formation. Facilitates the recruitment of MAPK1/3 to caveolae within cardiomyocytes and regulates alpha-1 adrenergic receptor-induced hypertrophic responses in cardiomyocytes through MAPK1/3 activation. Contributes to proper membrane localization and stabilization of caveolin-3 (CAV3) in cardiomyocytes (By similarity). Induces RHOA activation and activates NPPA transcription and myofibrillar organization through the Rho/ROCK signaling pathway (PubMed:18332105).',NULL,NULL,NULL,NULL,NULL),(1791,'UniProt Function',NULL,2288,NULL,'Serine protease with trypsin- and chymotrypsin-like specificity. Cleaves complement C3. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, antibacterial activity is inhibited by LPS from P.aeruginosa, Z-Gly-Leu-Phe-CH2Cl and phenylmethylsulfonyl fluoride.',NULL,NULL,NULL,NULL,NULL),(1792,'UniProt Function',NULL,2289,NULL,'Required for synapse integrity and synaptic plasticity. During cerebellar synapse formation, essential for the matching and maintenance of pre- and post-synaptic elements at parallel fiber-Purkinje cell synapses, the establishment of the proper pattern of climbing fiber-Purkinje cell innervation, and induction of long-term depression at parallel fiber-Purkinje cell synapses. Plays a role as a synaptic organizer that acts bidirectionally on both pre- and post-synaptic components. On the one hand induces accumulation of synaptic vesicles in the pre-synaptic part by binding with NRXN1 and in other hand induces clustering of GRID2 and its associated proteins at the post-synaptic site through association of GRID2. NRXN1-CBLN1-GRID2 complex directly induces parallel fiber protrusions that encapsulate spines of Purkinje cells leading to accumulation of GRID2 and synaptic vesicles. Required for CBLN3 export from the endoplasmic reticulum and secretion (By similarity). NRXN1-CBLN1-GRID2 complex mediates the D-Serine-dependent long term depression signals and AMPA receptor endocytosis (PubMed:27418511).',NULL,NULL,NULL,NULL,NULL),(1793,'UniProt Function',NULL,2289,NULL,'The cerebellin peptide exerts neuromodulatory functions. Directly stimulates norepinephrine release via the adenylate cyclase/PKA-dependent signaling pathway; and indirectly enhances adrenocortical secretion in vivo, through a paracrine mechanism involving medullary catecholamine release (By similarity).',NULL,NULL,NULL,NULL,NULL),(1794,'UniProt Function',NULL,2290,NULL,'Carboxypeptidase that catalyzes the release of a C-terminal amino acid, but has little or no action with -Asp, -Glu, -Arg, -Lys or -Pro.',NULL,NULL,NULL,NULL,NULL),(1795,'UniProt Function',NULL,2296,NULL,'Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine. Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons.',NULL,NULL,NULL,NULL,NULL),(1796,'UniProt Function',NULL,2302,NULL,'Dual-specificity phosphatase involved in DNA damage response. Essential regulator of the G2 DNA damage checkpoint: following DNA damage, translocates to the nucleus and dephosphorylates FZR1/CDH1, a key activator of the anaphase promoting complex/cyclosome (APC/C). Dephosphorylates SIRT2 around early anaphase. Dephosphorylation of FZR1/CDH1 activates the APC/C, leading to the ubiquitination of PLK1, preventing entry into mitosis. Preferentially dephosphorylates proteins modified by proline-directed kinases.',NULL,NULL,NULL,NULL,NULL),(1797,'UniProt Function',NULL,2304,NULL,'NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol. Can convert prostaglandin E2 to prostaglandin F2-alpha. Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S-nitrosoglutathione.',NULL,NULL,NULL,NULL,NULL),(1798,'UniProt Function',NULL,2305,NULL,'Has low NADPH-dependent oxidoreductase activity towards 4-benzoylpyridine and menadione (in vitro).',NULL,NULL,NULL,NULL,NULL),(1799,'UniProt Function',NULL,2306,NULL,'Involved in EGFR signaling.',NULL,NULL,NULL,NULL,NULL),(1800,'UniProt Function',NULL,2307,NULL,'Negatively regulates centriole duplication. Negatively regulates CEP63 and CDK2 centrosomal localization.',NULL,NULL,NULL,NULL,NULL),(1801,'UniProt Function',NULL,2309,NULL,'Chemoattractant for eosinophils and basophils (PubMed:10415065, PubMed:10488147). Acts as a ligand for C-C chemokine receptor CCR3 which triggers Ca(2+) mobilization in eosinophils (PubMed:10415065, PubMed:10488147, PubMed:11425309).',NULL,NULL,NULL,NULL,NULL),(1802,'UniProt Function',NULL,2310,NULL,'Chemotactic activity for resting CD4, CD8 T-cells and eosinophils. Binds to CCR3 and CCR10 and induces calcium mobilization in a dose-dependent manner.',NULL,NULL,NULL,NULL,NULL),(1803,'UniProt Function',NULL,2311,NULL,'Acts as an assembly platform for Rho protein signaling complexes. Limits guanine nucleotide exchange activity of MCF2L toward RHOA, which results in an inhibition of both its transcriptional activation ability and its transforming activity. Does not inhibit activity of MCF2L toward CDC42, or activity of MCF2 toward either RHOA or CDC42 (By similarity). May be involved in cell cycle regulation.',NULL,NULL,NULL,NULL,NULL),(1804,'UniProt Function',NULL,2312,NULL,'Chemotactic factor for T-lymphocytes but not monocytes or granulocytes. May play a role in T-cell development in thymus and in trafficking and activation of mature T-cells. Binds to CCR4.',NULL,NULL,NULL,NULL,NULL),(1805,'UniProt Function',NULL,2313,NULL,'Chemotactic factor that attracts monocytes and eosinophils, but not neutrophils. Augments monocyte anti-tumor activity. Also induces the release of gelatinase B. This protein can bind heparin. Binds to CCR1, CCR2 and CCR3.',NULL,NULL,NULL,NULL,NULL),(1806,'UniProt Function',NULL,2314,NULL,'Acts as a ligand for C-C chemokine receptor CCR6. Signals through binding and activation of CCR6 and induces a strong chemotactic response and mobilization of intracellular calcium ions (PubMed:11352563, PubMed:11035086, PubMed:20068036). The ligand-receptor pair CCL20-CCR6 is responsible for the chemotaxis of dendritic cells (DC), effector/memory T-cells and B-cells and plays an important role at skin and mucosal surfaces under homeostatic and inflammatory conditions, as well as in pathology, including cancer and various autoimmune diseases (PubMed:21376174). CCL20 acts as a chemotactic factor that attracts lymphocytes and, slightly, neutrophils, but not monocytes (PubMed:9038201, PubMed:11352563). Involved in the recruitment of both the proinflammatory IL17 producing helper T-cells (Th17) and the regulatory T-cells (Treg) to sites of inflammation. Required for optimal migration of thymic natural regulatory T cells (nTregs) and DN1 early thymocyte progenitor cells (By similarity). C-terminal processed forms have been shown to be equally chemotactically active for leukocytes (PubMed:11035086). Positively regulates sperm motility and chemotaxis via its binding to CCR6 which triggers Ca2+ mobilization in the sperm which is important for its motility (PubMed:23765988, PubMed:25122636). Inhibits proliferation of myeloid progenitors in colony formation assays (PubMed:9129037). May be involved in formation and function of the mucosal lymphoid tissues by attracting lymphocytes and dendritic cells towards epithelial cells (By similarity). Possesses antibacterial activity towards E.coli ATCC 25922 and S.aureus ATCC 29213 (PubMed:12149255).',NULL,NULL,NULL,NULL,NULL),(1807,'UniProt Function',NULL,2316,NULL,'High affinity receptor for the C-C type chemokines CCL17/TARC, CCL22/MDC and CKLF isoform 1/CKLF1. The activity of this receptor is mediated by G(i) proteins which activate a phosphatidylinositol-calcium second messenger system. Can function as a chemoattractant homing receptor on circulating memory lymphocytes and as a coreceptor for some primary HIV-2 isolates. In the CNS, could mediate hippocampal-neuron survival.',NULL,NULL,NULL,NULL,NULL),(1808,'UniProt Function',NULL,2317,NULL,'Shows chemotactic activity for monocytes, resting T-lymphocytes, and neutrophils, but not for activated lymphocytes. Inhibits proliferation of myeloid progenitor cells in colony formation assays. This protein can bind heparin. Binds CCR1. CCL23(19-99), CCL23(22-99), CCL23(27-99), CCL23(30-99) are more potent chemoattractants than the small-inducible cytokine A23.',NULL,NULL,NULL,NULL,NULL),(1809,'UniProt Function',NULL,2318,NULL,'Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells.',NULL,NULL,NULL,NULL,NULL),(1810,'UniProt Function',NULL,2319,NULL,'Plays multiple roles in cell cycle progression, cytokinesis and apoptosis. Involved in pre-mRNA splicing in a kinase activity-dependent manner. Isoform 7 may act as a negative regulator of normal cell cycle progression.',NULL,NULL,NULL,NULL,NULL),(1811,'UniProt Function',NULL,2320,NULL,'Receptor for a C-C type chemokine. Binds to eotaxin, eotaxin-3, MCP-3, MCP-4, RANTES and MIP-1 delta. Subsequently transduces a signal by increasing the intracellular calcium ions level. Alternative coreceptor with CD4 for HIV-1 infection.',NULL,NULL,NULL,NULL,NULL),(1812,'UniProt Function',NULL,2321,NULL,'Ligand for CD2. Might facilitate interaction between activated lymphocytes. Probably involved in regulating T-cell activation.',NULL,NULL,NULL,NULL,NULL),(1813,'UniProt Function',NULL,2322,NULL,'Receptor potentially involved in both adhesion and signaling processes early after leukocyte activation. Plays an essential role in leukocyte migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(1814,'UniProt Function',NULL,2323,NULL,'Cytokine that binds to CD27. Plays a role in T-cell activation. Induces the proliferation of costimulated T-cells and enhances the generation of cytolytic T-cells.',NULL,NULL,NULL,NULL,NULL),(1815,'UniProt Function',NULL,2324,NULL,'Cytokine that binds to CD40/TNFRSF5 (PubMed:1280226). Costimulates T-cell proliferation and cytokine production. Its cross-linking on T-cells generates a costimulatory signal which enhances the production of IL4 and IL10 in conjunction with the TCR/CD3 ligation and CD28 costimulation (PubMed:8617933). Induces the activation of NF-kappa-B and kinases MAPK8 and PAK2 in T-cells. Induces tyrosine phosphorylation of isoform 3 of CD28 (PubMed:15067037). Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL4. Involved in immunoglobulin class switching (By similarity).',NULL,NULL,NULL,NULL,NULL),(1816,'UniProt Function',NULL,2324,NULL,'Release of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and a matrix metalloproteinases (MMP) inhibitor-sensitive pathway.',NULL,NULL,NULL,NULL,NULL),(1817,'UniProt Function',NULL,2325,NULL,'Not yet known.',NULL,NULL,NULL,NULL,NULL),(1818,'UniProt Function',NULL,2326,NULL,'May participate in the regulation of T-cell-mediated immune response. May play a protective role in tumor cells by inhibiting natural-killer mediated cell lysis as well as a role of marker for detection of neuroblastoma cells. May be involved in the development of acute and chronic transplant rejection and in the regulation of lymphocytic activity at mucosal surfaces. Could also play a key role in providing the placenta and fetus with a suitable immunological environment throughout pregnancy. Both isoform 1 and isoform 2 appear to be redundant in their ability to modulate CD4 T-cell responses. Isoform 2 is shown to enhance the induction of cytotoxic T-cells and selectively stimulates interferon gamma production in the presence of T-cell receptor signaling.',NULL,NULL,NULL,NULL,NULL),(1819,'UniProt Function',NULL,2327,NULL,'Required for full ubiquitin ligase activity of the anaphase promoting complex/cyclosome (APC/C) and may confer substrate specificity upon the complex. Is regulated by MAD2L1: in metaphase the MAD2L1-CDC20-APC/C ternary complex is inactive and in anaphase the CDC20-APC/C binary complex is active in degrading substrates. The CDC20-APC/C complex positively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. CDC20-APC/C-induced degradation of NEUROD2 induces presynaptic differentiation.',NULL,NULL,NULL,NULL,NULL),(1820,'UniProt Function',NULL,2328,NULL,'Receptor involved in the costimulatory signal essential for T-lymphocyte proliferation and interleukin-2 production, by binding CD28 or CTLA-4. May play a critical role in the early events of T-cell activation and costimulation of naive T-cells, such as deciding between immunity and anergy that is made by T-cells within 24 hours after activation. Isoform 2 interferes with the formation of CD86 clusters, and thus acts as a negative regulator of T-cell activation.',NULL,NULL,NULL,NULL,NULL),(1821,'UniProt Function',NULL,2328,NULL,'(Microbial infection) Acts as a receptor for adenovirus subgroup B.',NULL,NULL,NULL,NULL,NULL),(1822,'UniProt Function',NULL,2329,NULL,'Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class I molecule:peptide complex. The antigens presented by class I peptides are derived from cytosolic proteins while class II derived from extracellular proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class I proteins presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. LCK then initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of cytotoxic T-lymphocytes (CTLs). This mechanism enables CTLs to recognize and eliminate infected cells and tumor cells. In NK-cells, the presence of CD8A homodimers at the cell surface provides a survival mechanism allowing conjugation and lysis of multiple target cells. CD8A homodimer molecules also promote the survival and differentiation of activated lymphocytes into memory CD8 T-cells.',NULL,NULL,NULL,NULL,NULL),(1823,'UniProt Function',NULL,2330,NULL,'Functions as an intracellular arginine sensor within the amino acid-sensing branch of the TORC1 signaling pathway. As a homodimer or a heterodimer with CASTOR2, binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Binding of arginine to CASTOR1 allosterically disrupts the interaction of CASTOR1-containing dimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway.',NULL,NULL,NULL,NULL,NULL),(1824,'UniProt Function',NULL,2331,NULL,'N-methyltransferase that mediates the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Anserine, a methylated derivative of carnosine (beta-alanyl-L-histidine), is an abundant constituent of vertebrate skeletal muscles. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA-His).',NULL,NULL,NULL,NULL,NULL),(1825,'UniProt Function',NULL,2332,NULL,'May have a role in immune function. Probably involved in the processing of antigenic peptides during MHC class II-mediated antigen presentation. May play a role in activation-induced lymphocyte depletion in the thymus, and in neuronal degeneration and glial cell activation in the brain.',NULL,NULL,NULL,NULL,NULL),(1826,'UniProt Function',NULL,2333,NULL,'May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway. Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation (PubMed:25893292). Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae (PubMed:19262564).',NULL,NULL,NULL,NULL,NULL),(1827,'UniProt Function',NULL,2336,NULL,'Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle (PubMed:28895244). Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions (PubMed:28895244). Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity (PubMed:27185316).',NULL,NULL,NULL,NULL,NULL),(1828,'UniProt Function',NULL,2337,NULL,'Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon-regulatory factor (IRF) signaling pathways. Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli. May play a role during early embryonic development. Probably involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(1829,'UniProt Function',NULL,2338,NULL,'Closely involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix degradation.',NULL,NULL,NULL,NULL,NULL),(1830,'UniProt Function',NULL,2340,NULL,'May be involved in synaptic functions in the CNS.',NULL,NULL,NULL,NULL,NULL),(1831,'UniProt Function',NULL,2343,NULL,'Metallocarboxypeptidase that mediates both deglutamylation and deaspartylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates or polyaspartates from the carboxy-terminus of target proteins such as MYLK. Does not show detyrosinase or deglycylase activities from the carboxy-terminus of tubulin.',NULL,NULL,NULL,NULL,NULL),(1832,'UniProt Function',NULL,2343,NULL,'Isoform 2: Metallocarboxypeptidase that mediates tubulin deglutamylation.',NULL,NULL,NULL,NULL,NULL),(1833,'UniProt Function',NULL,2346,NULL,'Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5.',NULL,NULL,NULL,NULL,NULL),(1834,'UniProt Function',NULL,2347,NULL,'Ciliary protein involved in outer dynein arm assembly and required for motile cilia function.',NULL,NULL,NULL,NULL,NULL),(1835,'UniProt Function',NULL,2349,NULL,'Microtubule-binding protein that localizes to the microtubular manchette of elongating spermatids.',NULL,NULL,NULL,NULL,NULL),(1836,'UniProt Function',NULL,2352,NULL,'Involved in ciliogenesis. Regulates cilia length through its interaction with MAPKAP1/SIN1 but independently of mTORC2 complex. Modulates mTORC2 complex assembly and function, possibly enhances AKT1 phosphorylation. Does not seem to modulate assembly and function of mTORC1 complex.',NULL,NULL,NULL,NULL,NULL),(1837,'UniProt Function',NULL,2353,NULL,'May be involved in apoptosis regulation.',NULL,NULL,NULL,NULL,NULL),(1838,'UniProt Function',NULL,2357,NULL,'Negatively regulates TNF-alpha-induced pro-inflammatory response in endothelial cells (ECs) via inhibition of TNF-alpha-induced NF-kappaB activation in ECs (PubMed:25193116). Positively regulates lipid accumulation in adipose cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(1839,'UniProt Function',NULL,2358,NULL,'Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes.',NULL,NULL,NULL,NULL,NULL),(1840,'UniProt Function',NULL,2359,NULL,'Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits.',NULL,NULL,NULL,NULL,NULL),(1841,'UniProt Function',NULL,2361,NULL,'Thought to stabilize the calcium channel in an inactivated (closed) state. Modulates calcium current when coexpressed with CACNA1G (By similarity).',NULL,NULL,NULL,NULL,NULL),(1842,'UniProt Function',NULL,2363,NULL,'Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Regulates channel inactivation kinetics.',NULL,NULL,NULL,NULL,NULL),(1843,'UniProt Function',NULL,2364,NULL,'Essential for the control of the cell cycle at the late G1 and early S phase.',NULL,NULL,NULL,NULL,NULL),(1844,'UniProt Function',NULL,2365,NULL,'Has weak activities on human monocytes and acts via receptors that also recognize MIP-1 alpha. It induces intracellular Ca(2+) changes and enzyme release, but no chemotaxis, at concentrations of 100-1,000 nM, and is inactive on T-lymphocytes, neutrophils, and eosinophil leukocytes. Enhances the proliferation of CD34 myeloid progenitor cells. The processed form HCC-1(9-74) is a chemotactic factor that attracts monocytes, eosinophils, and T-cells and is a ligand for CCR1, CCR3 and CCR5.',NULL,NULL,NULL,NULL,NULL),(1845,'UniProt Function',NULL,2366,NULL,'Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).',NULL,NULL,NULL,NULL,NULL),(1846,'UniProt Function',NULL,2367,NULL,'May play a role not only in inflammatory and immunological responses but also in normal lymphocyte recirculation and homing. May play an important role in trafficking of T-cells in thymus, and T-cell and B-cell migration to secondary lymphoid organs. Binds to chemokine receptor CCR7. Recombinant CCL19 shows potent chemotactic activity for T-cells and B-cells but not for granulocytes and monocytes. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4.',NULL,NULL,NULL,NULL,NULL),(1847,'UniProt Function',NULL,2368,NULL,'Cytokine that is chemotactic for monocytes but not for neutrophils. Binds to CCR8.',NULL,NULL,NULL,NULL,NULL),(1848,'UniProt Function',NULL,2369,NULL,'Involved in pre-mRNA splicing. Functions in association with cyclin-dependent kinases (CDKs) (PubMed:18216018). Inhibited by the CDK-specific inhibitor CDKN1A/p21 (PubMed:11980906). May play a role in the regulation of RNA polymerase II (pol II). May be a candidate proto-oncogene in head and neck squamous cell carcinomas (HNSCC) (PubMed:12414649, PubMed:15700036).',NULL,NULL,NULL,NULL,NULL),(1849,'UniProt Function',NULL,2370,NULL,'Involved in T-cell activation, the induction of cell proliferation and cytokine production and promotion of T-cell survival. Enhances the production of IL4 and IL10 in T-cells in conjunction with TCR/CD3 ligation and CD40L costimulation (PubMed:8617933). Isoform 3 enhances CD40L-mediated activation of NF-kappa-B and kinases MAPK8 and PAK2 in T-cells (PubMed:15067037).',NULL,NULL,NULL,NULL,NULL),(1850,'UniProt Function',NULL,2372,NULL,'Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D2/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(1851,'UniProt Function',NULL,2373,NULL,'Potential multifunctional C-type lectin receptor that may play roles in endocytosis and phagocytosis as well as in cell adhesion and migration.',NULL,NULL,NULL,NULL,NULL),(1852,'UniProt Function',NULL,2375,NULL,'Involved in intercellular adhesion, lymphocyte signaling, cytotoxicity and lymphokine secretion mediated by cytotoxic T-lymphocyte (CTL) and NK cell (PubMed:8673704). Cell surface receptor for NECTIN2. Upon ligand binding, stimulates T-cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Competes with PVRIG for NECTIN2-binding (PubMed:26755705).',NULL,NULL,NULL,NULL,NULL),(1853,'UniProt Function',NULL,2376,NULL,'Involved in lymphocyte proliferation and functions as a signal transmitting receptor in lymphocytes, natural killer (NK) cells, and platelets.',NULL,NULL,NULL,NULL,NULL),(1854,'UniProt Function',NULL,2377,NULL,'Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Regulates the bipolar attachment of spindle microtubules to kinetochores before chromosome congression in metaphase. Plays a role in the extension and maintenance of the formation of thin, actin-rich surface projections called filopodia. Mediates CDC42-dependent cell migration. Required for DOCK10-mediated spine formation in Purkinje cells and hippocampal neurons. Facilitates filopodia formation upon DOCK11-activation (By similarity). Also plays a role in phagocytosis through organization of the F-actin cytoskeleton associated with forming phagocytic cups.',NULL,NULL,NULL,NULL,NULL),(1855,'UniProt Function',NULL,2378,NULL,'Co-chaperone that binds to numerous kinases and promotes their interaction with the Hsp90 complex, resulting in stabilization and promotion of their activity (PubMed:8666233). Inhibits HSP90AA1 ATPase activity (PubMed:23569206).',NULL,NULL,NULL,NULL,NULL),(1856,'UniProt Function',NULL,2379,NULL,'Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Phosphorylates the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAp II), which may inhibit the formation of a transcription initiation complex. Phosphorylates CCNH leading to down-regulation of the TFIIH complex and transcriptional repression. Recruited through interaction with MAML1 to hyperphosphorylate the intracellular domain of NOTCH, leading to its degradation.',NULL,NULL,NULL,NULL,NULL),(1857,'UniProt Function',NULL,2380,NULL,'Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also phosphorylates SMAD3 in a cell-cycle-dependent manner and represses its transcriptional activity. Component of the ternary complex, cyclin D/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex.',NULL,NULL,NULL,NULL,NULL),(1858,'UniProt Function',NULL,2383,NULL,'May play a role in signal transduction cascades in terminally differentiated cells.',NULL,NULL,NULL,NULL,NULL),(1859,'UniProt Function',NULL,2385,NULL,'Involved in the activation cascade of caspases responsible for apoptosis execution. Might function by either activating some proteins required for cell death or inactivating proteins necessary for cell survival (PubMed:15073321). Associates with PIDD1 and CRADD to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis in response to genotoxic stress (PubMed:15073321).',NULL,NULL,NULL,NULL,NULL),(1860,'UniProt Function',NULL,2386,NULL,'Most upstream protease of the activation cascade of caspases responsible for the TNFRSF6/FAS mediated and TNFRSF1A induced cell death. Binding to the adapter molecule FADD recruits it to either receptor. The resulting aggregate called death-inducing signaling complex (DISC) performs CASP8 proteolytic activation. The active dimeric enzyme is then liberated from the DISC and free to activate downstream apoptotic proteases. Proteolytic fragments of the N-terminal propeptide (termed CAP3, CAP5 and CAP6) are likely retained in the DISC. Cleaves and activates CASP3, CASP4, CASP6, CASP7, CASP9 and CASP10. May participate in the GZMB apoptotic pathways. Cleaves ADPRT. Hydrolyzes the small-molecule substrate, Ac-Asp-Glu-Val-Asp-|-AMC. Likely target for the cowpox virus CRMA death inhibitory protein. Isoform 5, isoform 6, isoform 7 and isoform 8 lack the catalytic site and may interfere with the pro-apoptotic activity of the complex.',NULL,NULL,NULL,NULL,NULL),(1861,'UniProt Function',NULL,2389,NULL,'Proteolytic enzyme possibly involved in normal cellular protein degradation and turnover.',NULL,NULL,NULL,NULL,NULL),(1862,'UniProt Function',NULL,2390,NULL,'F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments.',NULL,NULL,NULL,NULL,NULL),(1863,'UniProt Function',NULL,2391,NULL,'May be involved in intra-Golgi retrograde transport.',NULL,NULL,NULL,NULL,NULL),(1864,'UniProt Function',NULL,2393,NULL,'Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats.',NULL,NULL,NULL,NULL,NULL),(1865,'UniProt Function',NULL,2394,NULL,'Important for the overall degradation of proteins in lysosomes.',NULL,NULL,NULL,NULL,NULL),(1866,'UniProt Function',NULL,2395,NULL,'May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II (PubMed:18178555). Releases a C-terminal amino acid, with preference for large hydrophobic C-terminal amino acids and shows only very weak activity toward small amino acids and histidine (PubMed:20855895).',NULL,NULL,NULL,NULL,NULL),(1867,'UniProt Function',NULL,2398,NULL,'Component of heterochromatin. Recognizes and binds histone H3 tails methylated at \'Lys-9\', leading to epigenetic repression. Interaction with lamin B receptor (LBR) can contribute to the association of the heterochromatin with the inner nuclear membrane.',NULL,NULL,NULL,NULL,NULL),(1868,'UniProt Function',NULL,2400,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:21282530). PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility (PubMed:21282530). Binds to histone H3 trimethylated at \'Lys-9\' (H3K9me3) or at \'Lys-27\' (H3K27me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity). Involved in sexual development, acting as activator of NR5A1 expression (PubMed:19361780).',NULL,NULL,NULL,NULL,NULL),(1869,'UniProt Function',NULL,2401,NULL,'Metallocarboxypeptidase that mediates protein deglutamylation. Specifically catalyzes the deglutamylation of the branching point glutamate side chains generated by post-translational glutamylation in proteins such as tubulins. In contrast, it is not able to act as a long-chain deglutamylase that shortens long polyglutamate chains, a process catalyzed by AGTPBP1/CCP1, AGBL2/CCP2, AGBL3/CCP3, AGBL1/CCP4 and AGBL4/CCP6. Mediates deglutamylation of CGAS, regulating the antiviral activity of CGAS.',NULL,NULL,NULL,NULL,NULL),(1870,'UniProt Function',NULL,2409,NULL,'Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit.',NULL,NULL,NULL,NULL,NULL),(1871,'UniProt Function',NULL,2410,NULL,'This peptide hormone induces gall bladder contraction and the release of pancreatic enzymes in the gut. Its function in the brain is not clear. Binding to CCK-A receptors stimulates amylase release from the pancreas, binding to CCK-B receptors stimulates gastric acid secretion.',NULL,NULL,NULL,NULL,NULL),(1872,'UniProt Function',NULL,2411,NULL,'Chemotactic factor that attracts skin-associated memory T-lymphocytes. May play a role in mediating homing of lymphocytes to cutaneous sites. Binds to CCR10.',NULL,NULL,NULL,NULL,NULL),(1873,'UniProt Function',NULL,2415,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of CP110 during G2 phase, thereby acting as an inhibitor of centrosome reduplication.',NULL,NULL,NULL,NULL,NULL),(1874,'UniProt Function',NULL,2417,NULL,'Receptor for the C-C type chemokine CCL20 (PubMed:9169459). Binds to CCL20 and subsequently transduces a signal by increasing the intracellular calcium ion levels (PubMed:20068036). Although CCL20 is its major ligand it can also act as a receptor for non-chemokine ligands such as beta-defensins (PubMed:25585877). Binds to defensin DEFB1 leading to increase in intracellular calcium ions and cAMP levels. Its binding to DEFB1 is essential for the function of DEFB1 in regulating sperm motility and bactericidal activity (PubMed:25122636). Binds to defensins DEFB4 and DEFB4A/B and mediates their chemotactic effects (PubMed:20068036). The ligand-receptor pair CCL20-CCR6 is responsible for the chemotaxis of dendritic cells (DC), effector/ memory T-cells and B-cells and plays an important role at skin and mucosal surfaces under homeostatic and inflammatory conditions, as well as in pathology, including cancer and various autoimmune diseases. CCR6-mediated signals are essential for immune responses to microbes in the intestinal mucosa and in the modulation of inflammatory responses initiated by tissue insult and trauma (PubMed:21376174). CCR6 is essential for the recruitment of both the proinflammatory IL17 producing helper T-cells (Th17) and the regulatory T-cells (Treg) to sites of inflammation. Required for the normal migration of Th17 cells in Peyers-patches and other related tissue sites of the intestine and plays a role in regulating effector T-cell balance and distribution in inflamed intestine. Plays an important role in the coordination of early thymocyte precursor migration events important for normal subsequent thymocyte precursor development, but is not required for the formation of normal thymic natural regulatory T-cells (nTregs). Required for optimal differentiation of DN2 and DN3 thymocyte precursors. Essential for B-cell localization in the subepithelial dome of Peyers-patches and for efficient B-cell isotype switching to IgA in the Peyers-patches. Essential for appropriate anatomical distribution of memory B-cells in the spleen and for the secondary recall response of memory B-cells (By similarity). Positively regulates sperm motility and chemotaxis via its binding to CCL20 (PubMed:23765988).',NULL,NULL,NULL,NULL,NULL),(1875,'UniProt Function',NULL,2418,NULL,'May play a role in the trafficking of activated/effector T-lymphocytes to inflammatory sites and other aspects of activated T-lymphocyte physiology. Chemotactic for monocytes, dendritic cells and natural killer cells. Mild chemoattractant for primary activated T-lymphocytes and a potent chemoattractant for chronically activated T-lymphocytes but has no chemoattractant activity for neutrophils, eosinophils, and resting T-lymphocytes. Binds to CCR4. Processed forms MDC(3-69), MDC(5-69) and MDC(7-69) seem not be active.',NULL,NULL,NULL,NULL,NULL),(1876,'UniProt Function',NULL,2419,NULL,'Chemotactic for resting T-lymphocytes, and eosinophils. Has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes. Is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. Binds to CCR3.',NULL,NULL,NULL,NULL,NULL),(1877,'UniProt Function',NULL,2420,NULL,'Required for S phase entry of the cell cycle.',NULL,NULL,NULL,NULL,NULL),(1878,'UniProt Function',NULL,2421,NULL,'Receptor for CCL19 and chemerin/RARRES2. Does not appear to be a signaling receptor, but may have a role in modulating chemokine-triggered immune responses by capturing and internalizing CCL19 or by presenting RARRES2 ligand to CMKLR1, a functional signaling receptors. Plays a critical role for the development of Th2 responses.',NULL,NULL,NULL,NULL,NULL),(1879,'UniProt Function',NULL,2423,NULL,'Coreceptor for bacterial lipopolysaccharide (PubMed:1698311, PubMed:23264655). In concert with LBP, binds to monomeric lipopolysaccharide and delivers it to the LY96/TLR4 complex, thereby mediating the innate immune response to bacterial lipopolysaccharide (LPS) (PubMed:20133493, PubMed:23264655). Acts via MyD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:8612135). Acts as a coreceptor for TLR2:TLR6 heterodimer in response to diacylated lipopeptides and for TLR2:TLR1 heterodimer in response to triacylated lipopeptides, these clusters trigger signaling from the cell surface and subsequently are targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Binds electronegative LDL (LDL(-)) and mediates the cytokine release induced by LDL(-) (PubMed:23880187).',NULL,NULL,NULL,NULL,NULL),(1880,'UniProt Function',NULL,2424,NULL,'Receptor for a number of inflammatory CC-chemokines including CCL3/MIP-1-alpha, CCL4/MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation.',NULL,NULL,NULL,NULL,NULL),(1881,'UniProt Function',NULL,2424,NULL,'(Microbial infection) Acts as a coreceptor (CD4 being the primary receptor) of human immunodeficiency virus-1/HIV-1.',NULL,NULL,NULL,NULL,NULL),(1882,'UniProt Function',NULL,2425,NULL,'Modulates negatively TGFB1 signaling in keratinocytes.',NULL,NULL,NULL,NULL,NULL),(1883,'UniProt Function',NULL,2426,NULL,'T-cell surface glycoprotein CD1e, soluble binds diacetylated lipids, including phosphatidyl inositides and diacylated sulfoglycolipids, and is required for the presentation of glycolipid antigens on the cell surface. The membrane-associated form is not active.',NULL,NULL,NULL,NULL,NULL),(1884,'UniProt Function',NULL,2427,NULL,'Involved in pre-mRNA splicing as component of the U5 snRNP complex that is involved in spliceosome assembly.',NULL,NULL,NULL,NULL,NULL),(1885,'UniProt Function',NULL,2429,NULL,'Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition to this role of signal transduction in T-cell activation, CD3G plays an essential role in the dynamic regulation of TCR expression at the cell surface (PubMed:8187769). Indeed, constitutive TCR cycling is dependent on the di-leucine-based (diL) receptor-sorting motif present in CD3G.',NULL,NULL,NULL,NULL,NULL),(1886,'UniProt Function',NULL,2430,NULL,'In association with beta-2 integrin heterodimer ITGAM/CD11b and ITGB2/CD18, mediates activation of TNF-alpha primed neutrophils including degranulation and superoxide production (PubMed:21193407). In addition, by preventing beta-2 integrin internalization and attenuating chemokine signaling favors adhesion over migration (PubMed:28807980). Heterophilic interaction with PECAM1 on endothelial cells plays a role in neutrophil transendothelial migration in vitro (PubMed:17580308). However, appears to be dispensable for neutrophil recruitment caused by bacterial infection in vivo (PubMed:23461681). Acts as a receptor for the mature form of protease PRTN3 allowing its display at the cell surface of neutrophils (PubMed:17244676, PubMed:18462208). By displaying PRTN3 at the neutrophil cell surface, may play a role in enhancing endothelial cell junctional integrity and thus vascular integrity during neutrophil diapedesis (PubMed:23202369).',NULL,NULL,NULL,NULL,NULL),(1887,'UniProt Function',NULL,2431,NULL,'Receptor for transcobalamin saturated with cobalamin (TCbl) (PubMed:18779389). Plays an important role in cobalamin uptake (PubMed:18779389, PubMed:20524213). Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells (PubMed:10727470). Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation (PubMed:10727470, PubMed:11418631). Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC) (PubMed:11418631). CD320 augments the proliferation of PC precursors generated by IL-10 (PubMed:11418631).',NULL,NULL,NULL,NULL,NULL),(1888,'UniProt Function',NULL,2432,NULL,'Sialic-acid-binding immunoglobulin-like lectin (Siglec) that plays a role in mediating cell-cell interactions and in maintaining immune cells in a resting state (PubMed:10611343, PubMed:15597323, PubMed:11320212). Preferentially recognizes and binds alpha-2,3- and more avidly alpha-2,6-linked sialic acid-bearing glycans (PubMed:7718872). Upon engagement of ligands such as C1q or syalylated glycoproteins, two immunoreceptor tyrosine-based inhibitory motifs (ITIMs) located in CD33 cytoplasmic tail are phosphorylated by Src-like kinases such as LCK (PubMed:28325905, PubMed:10887109). These phosphorylations provide docking sites for the recruitment and activation of protein-tyrosine phosphatases PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10556798, PubMed:10206955, PubMed:10887109). In turn, these phosphatases regulate downstream pathways through dephosphorylation of signaling molecules (PubMed:10206955, PubMed:10887109). One of the repressive effect of CD33 on monocyte activation requires phosphoinositide 3-kinase/PI3K (PubMed:15597323).',NULL,NULL,NULL,NULL,NULL),(1889,'UniProt Function',NULL,2433,NULL,'Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains. May recruit the E2 ubiquitin-conjugating enzymes to the complex.',NULL,NULL,NULL,NULL,NULL),(1890,'UniProt Function',NULL,2434,NULL,'Involved in T-cell adhesion processes and in spontaneous rosette formation with erythrocytes. Plays a role in a late step of leukocyte extravasation helping leukocytes to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1. Involved in T-cell adhesion processes (By similarity).',NULL,NULL,NULL,NULL,NULL),(1891,'UniProt Function',NULL,2435,NULL,'Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(1892,'UniProt Function',NULL,2436,NULL,'May play a role in tumor angiogenesis.',NULL,NULL,NULL,NULL,NULL),(1893,'UniProt Function',NULL,2437,NULL,'Required for initiation of chromosomal DNA replication.',NULL,NULL,NULL,NULL,NULL),(1894,'UniProt Function',NULL,2438,NULL,'O-acetyltransferase that catalyzes 9-O-acetylation of sialic acids (PubMed:20947662, PubMed:26169044). Sialic acids are sugars at the reducing end of glycoproteins and glycolipids, and are involved in various processes such as cell-cell interactions, host-pathogen recognition (PubMed:20947662, PubMed:26169044).',NULL,NULL,NULL,NULL,NULL),(1895,'UniProt Function',NULL,2439,NULL,'Satiety factor closely associated with the actions of leptin and neuropeptide y; this anorectic peptide inhibits both normal and starvation-induced feeding and completely blocks the feeding response induced by neuropeptide Y and regulated by leptin in the hypothalamus. It promotes neuronal development and survival in vitro.',NULL,NULL,NULL,NULL,NULL),(1896,'UniProt Function',NULL,2440,NULL,'Functions as a negative regulator of the TORC1 signaling pathway through the GATOR complex. As part of homodimers or heterodimers with CASTOR1, directly binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Does not directly bind arginine, but binding of arginine to CASTOR1 disrupts the interaction of CASTOR2-containing heterodimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway.',NULL,NULL,NULL,NULL,NULL),(1897,'UniProt Function',NULL,2441,NULL,'F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the formation of epithelial cell junctions.',NULL,NULL,NULL,NULL,NULL),(1898,'UniProt Function',NULL,2442,NULL,'Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII.',NULL,NULL,NULL,NULL,NULL),(1899,'UniProt Function',NULL,2444,NULL,'Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(1900,'UniProt Function',NULL,2448,NULL,'May play a role in acrosome formation in spermatogenesis and in fertilization.',NULL,NULL,NULL,NULL,NULL),(1901,'UniProt Function',NULL,2450,NULL,'Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092). Recruits NIN and CEP170 to centrosomes (PubMed:28422092). Also required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth.',NULL,NULL,NULL,NULL,NULL),(1902,'UniProt Function',NULL,2456,NULL,'Plays a role in spermatogenesis, where it is important for normal sperm head morphology. Also required for the acrosome reaction and thus normal male fertility.',NULL,NULL,NULL,NULL,NULL),(1903,'UniProt Function',NULL,2457,NULL,'Required for primary cilia formation and promotes the localization of the ciliopathy protein BBS4 to both centriolar satellites and cilia.',NULL,NULL,NULL,NULL,NULL),(1904,'UniProt Function',NULL,2458,NULL,'Potentially involved in T-cell development. Recombinant protein shows chemotactic activity on thymocytes, macrophages, THP-1 cells, and dendritics cells but is inactive on peripheral blood lymphocytes and neutrophils. Binds to CCR9. Isoform 2 is an antagonist of isoform 1. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4.',NULL,NULL,NULL,NULL,NULL),(1905,'UniProt Function',NULL,2459,NULL,'Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974).',NULL,NULL,NULL,NULL,NULL),(1906,'UniProt Function',NULL,2460,NULL,'Cyclin which controls both the G1/S and the G2/M transition phases of the cell cycle. Functions through the formation of specific serine/threonine protein kinase holoenzyme complexes with the cyclin-dependent protein kinases CDK1 or CDK2. The cyclin subunit confers the substrate specificity of these complexes and differentially interacts with and activates CDK1 and CDK2 throughout the cell cycle.',NULL,NULL,NULL,NULL,NULL),(1907,'UniProt Function',NULL,2461,NULL,'Chemotactic factor that attracts T-cells and monocytes, but not neutrophils, eosinophils, or B-cells. Acts mainly via CC chemokine receptor CCR1. Also binds to CCR3. CCL15(22-92), CCL15(25-92) and CCL15(29-92) are more potent chemoattractants than the small-inducible cytokine A15.',NULL,NULL,NULL,NULL,NULL),(1908,'UniProt Function',NULL,2462,NULL,'Chemotactic factor that attracts lymphocytes but not monocytes or granulocytes. May be involved in B-cell migration into B-cell follicles in lymph nodes. Attracts naive T-lymphocytes toward dendritic cells and activated macrophages in lymph nodes, has chemotactic activity for naive T-cells, CD4+ and CD8+ T-cells and thus may play a role in both humoral and cell-mediated immunity responses.',NULL,NULL,NULL,NULL,NULL),(1909,'UniProt Function',NULL,2463,NULL,'Regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases. Plays a role in transcriptional regulation via its role in regulating the phosphorylation of the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A).',NULL,NULL,NULL,NULL,NULL),(1910,'UniProt Function',NULL,2464,NULL,'Plays a role in microtubule (MT) stabilization and this stabilization involves the maintenance of NUMA1 at the spindle poles. Colocalizes with polyglutamylated MTs to promote MT stabilization and regulate bipolar spindle formation in mitosis. Binding of CCSAP to centrosomes and the spindle around centrosomes during mitosis inhibits MT depolymerization, thereby stabilizing the mitotic spindle (PubMed:26562023). May play a role in embryonic development. May be required for proper cilia beating (By similarity).',NULL,NULL,NULL,NULL,NULL),(1911,'UniProt Function',NULL,2467,NULL,'Microtubule-binding protein which might play a role in microtubule bundling.',NULL,NULL,NULL,NULL,NULL),(1912,'UniProt Function',NULL,2470,NULL,'Essential for the proper assembly of the glomerular and tubular basement membranes in kidney.',NULL,NULL,NULL,NULL,NULL),(1913,'UniProt Function',NULL,2470,NULL,'(Microbial infection) Plays a role in human papillomavirus 16/HPV-16 endocytosis upon binding to cell surface receptor.',NULL,NULL,NULL,NULL,NULL),(1914,'UniProt Function',NULL,2471,NULL,'Regulatory component of the cyclin D3-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D3/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex.',NULL,NULL,NULL,NULL,NULL),(1915,'UniProt Function',NULL,2472,NULL,'Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098, PubMed:7509083). CD3Z ITAMs phosphorylation creates multiple docking sites for the protein kinase ZAP70 leading to ZAP70 phosphorylation and its conversion into a catalytically active enzyme (PubMed:7509083). Plays an important role in intrathymic T-cell differentiation. Additionally, participates in the activity-dependent synapse formation of retinal ganglion cells (RGCs) in both the retina and dorsal lateral geniculate nucleus (dLGN) (By similarity).',NULL,NULL,NULL,NULL,NULL),(1916,'UniProt Function',NULL,2473,NULL,'Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class II molecule:peptide complex. The antigens presented by class II peptides are derived from extracellular proteins while class I peptides are derived from cytosolic proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class II presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. LCK then initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of T-helper cells. In other cells such as macrophages or NK cells, plays a role in differentiation/activation, cytokine expression and cell migration in a TCR/LCK-independent pathway. Participates in the development of T-helper cells in the thymus and triggers the differentiation of monocytes into functional mature macrophages.',NULL,NULL,NULL,NULL,NULL),(1917,'UniProt Function',NULL,2473,NULL,'(Microbial infection) Primary receptor for human immunodeficiency virus-1 (HIV-1) (PubMed:2214026, PubMed:16331979, PubMed:9641677, PubMed:12089508). Down-regulated by HIV-1 Vpu (PubMed:17346169). Acts as a receptor for Human Herpes virus 7/HHV-7 (PubMed:7909607).',NULL,NULL,NULL,NULL,NULL),(1918,'UniProt Function',NULL,2481,NULL,'Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome.',NULL,NULL,NULL,NULL,NULL),(1919,'UniProt Function',NULL,2482,NULL,'Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock (By similarity).',NULL,NULL,NULL,NULL,NULL),(1920,'UniProt Function',NULL,2483,NULL,'In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3.',NULL,NULL,NULL,NULL,NULL),(1921,'UniProt Function',NULL,2484,NULL,'Specifically required for generation of multiciliated cells, possibly by promoting a cell cycle state compatible with centriole amplification and maturation. Acts downstream of MCIDAS to promote mother centriole amplification and maturation in preparation for apical docking.',NULL,NULL,NULL,NULL,NULL),(1922,'UniProt Function',NULL,2485,NULL,'Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which is proposed to facilitate the transition from abortive to productive elongation by phosphorylating the CTD (carboxy-terminal domain) of the large subunit of RNA polymerase II (RNA Pol II).',NULL,NULL,NULL,NULL,NULL),(1923,'UniProt Function',NULL,2485,NULL,'(Microbial infection) In case of HIV or SIV infections, binds to the transactivation domain of the viral nuclear transcriptional activator, Tat, thereby increasing Tat\'s affinity for the transactivating response RNA element (TAR RNA). Serves as an essential cofactor for Tat, by promoting RNA Pol II activation, allowing transcription of viral genes.',NULL,NULL,NULL,NULL,NULL),(1924,'UniProt Function',NULL,2486,NULL,'Shows chemotactic activity for lymphocytes and monocytes but not neutrophils. Also shows potent myelosuppressive activity, suppresses proliferation of myeloid progenitor cells. Recombinant SCYA16 shows chemotactic activity for monocytes and THP-1 monocytes, but not for resting lymphocytes and neutrophils. Induces a calcium flux in THP-1 cells that were desensitized by prior expression to RANTES.',NULL,NULL,NULL,NULL,NULL),(1925,'UniProt Function',NULL,2487,NULL,'May play a role in growth regulation. Is associated with G2/M phase arrest in response to DNA damage. May be an intermediate by which p53 mediates its role as an inhibitor of cellular proliferation (By similarity).',NULL,NULL,NULL,NULL,NULL),(1926,'UniProt Function',NULL,2488,NULL,'Receptor for a C-C type chemokine. Binds to MIP-1-alpha, MIP-1-delta, RANTES, and MCP-3 and, less efficiently, to MIP-1-beta or MCP-1 and subsequently transduces a signal by increasing the intracellular calcium ions level. Responsible for affecting stem cell proliferation.',NULL,NULL,NULL,NULL,NULL),(1927,'UniProt Function',NULL,2489,NULL,'Receptor for the chemokine CCL1/SCYA1/I-309. May regulate monocyte chemotaxis and thymic cell line apoptosis. Alternative coreceptor with CD4 for HIV-1 infection.',NULL,NULL,NULL,NULL,NULL),(1928,'UniProt Function',NULL,2494,NULL,'Activator of CDK5/TPKII.',NULL,NULL,NULL,NULL,NULL),(1929,'UniProt Function',NULL,2495,NULL,'Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(1930,'UniProt Function',NULL,2496,NULL,'Has a role in both cell adhesion by acting as an adhesion receptor for THBS1 on platelets, and in the modulation of integrins. Plays an important role in memory formation and synaptic plasticity in the hippocampus (By similarity). Receptor for SIRPA, binding to which prevents maturation of immature dendritic cells and inhibits cytokine production by mature dendritic cells. Interaction with SIRPG mediates cell-cell adhesion, enhances superantigen-dependent T-cell-mediated proliferation and costimulates T-cell activation. May play a role in membrane transport and/or integrin dependent signal transduction. May prevent premature elimination of red blood cells. May be involved in membrane permeability changes induced following virus infection.',NULL,NULL,NULL,NULL,NULL),(1931,'UniProt Function',NULL,2497,NULL,'DNA-binding protein involved in cell cycle control. May act as a transcription activator. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR).',NULL,NULL,NULL,NULL,NULL),(1932,'UniProt Function',NULL,2498,NULL,'Serine/threonine-protein kinase involved in the control of the eukaryotic cell cycle, whose activity is controlled by an associated cyclin. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by mediating the phosphorylation of LRP6 at \'Ser-1490\', leading to the activation of the Wnt signaling pathway. Acts as a regulator of cell cycle progression and cell proliferation via its interaction with CCDN3. Phosphorylates RB1 in vitro, however the relevance of such result remains to be confirmed in vivo. May also play a role in meiosis, neuron differentiation and may indirectly act as a negative regulator of insulin-responsive glucose transport.',NULL,NULL,NULL,NULL,NULL),(1933,'UniProt Function',NULL,2499,NULL,'Cyclin-dependent kinase that phosphorylates the transcription factor ETS2 (in vitro) and positively controls its proteasomal degradation (in cells) (PubMed:24218572). Involved in the regulation of actin cytoskeleton organization through the phosphorylation of actin dynamics regulators such as PKN2. Is a negative regulator of ciliogenesis through phosphorylation of PKN2 and promotion of RhoA signaling (PubMed:27104747).',NULL,NULL,NULL,NULL,NULL),(1934,'UniProt Function',NULL,2500,NULL,'Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(1935,'UniProt Function',NULL,2501,NULL,'Isoform 1: Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Plays a role as coinhibitory receptor in immune response, insulin action and functions also as an activator during angiogenesis (PubMed:18424730, PubMed:23696226, PubMed:25363763). Its coinhibitory receptor function is phosphorylation- and PTPN6 -dependent, which in turn, suppress signal transduction of associated receptors by dephosphorylation of their downstream effectors. Plays a role in immune response, of T cells, natural killer (NK) and neutrophils (PubMed:18424730, PubMed:23696226). Upon TCR/CD3 complex stimulation, inhibits TCR-mediated cytotoxicity by blocking granule exocytosis by mediating homophilic binding to adjacent cells, allowing interaction with and phosphorylation by LCK and interaction with the TCR/CD3 complex which recruits PTPN6 resulting in dephosphorylation of CD247 and ZAP70 (PubMed:18424730). Also inhibits T cell proliferation and cytokine production through inhibition of JNK cascade and plays a crucial role in regulating autoimmunity and anti-tumor immunity by inhibiting T cell through its interaction with HAVCR2 (PubMed:25363763). Upon natural killer (NK) cells activation, inhibit KLRK1-mediated cytolysis of CEACAM1-bearing tumor cells by trans-homophilic interactions with CEACAM1 on the target cell and lead to cis-interaction between CEACAM1 and KLRK1, allowing PTPN6 recruitment and then VAV1 dephosphorylation (PubMed:23696226). Upon neutrophils activation negatively regulates IL1B production by recruiting PTPN6 to a SYK-TLR4-CEACAM1 complex, that dephosphorylates SYK, reducing the production of reactive oxygen species (ROS) and lysosome disruption, which in turn, reduces the activity of the inflammasome. Downregulates neutrophil production by acting as a coinhibitory receptor for CSF3R by downregulating the CSF3R-STAT3 pathway through recruitment of PTPN6 that dephosphorylates CSF3R (By similarity). Also regulates insulin action by promoting INS clearance and regulating lipogenesis in liver through regulating insulin signaling (By similarity). Upon INS stimulation, undergoes phosphorylation by INSR leading to INS clearance by increasing receptor-mediated insulin endocytosis. This inernalization promotes interaction with FASN leading to receptor-mediated insulin degradation and to reduction of FASN activity leading to negative regulation of fatty acid synthesis. INSR-mediated phosphorylation also provokes a down-regulation of cell proliferation through SHC1 interaction resulting in decrease coupling of SHC1 to the MAPK3/ERK1-MAPK1/ERK2 and phosphatidylinositol 3-kinase pathways (By similarity). Functions as activator in angiogenesis by promoting blood vessel remodeling through endothelial cell differentiation and migration and in arteriogenesis by increasing the number of collateral arteries and collateral vessel calibers after ischemia. Also regulates vascular permeability through the VEGFR2 signaling pathway resulting in control of nitric oxide production (By similarity). Downregulates cell growth in response to EGF through its interaction with SHC1 that mediates interaction with EGFR resulting in decrease coupling of SHC1 to the MAPK3/ERK1-MAPK1/ERK2 pathway (By similarity). Negatively regulates platelet aggregation by decreasing platelet adhesion on type I collagen through the GPVI-FcRgamma complex (By similarity). Inhibits cell migration and cell scattering through interaction with FLNA; interfers with the interaction of FLNA with RALA (PubMed:16291724). Mediates bile acid transport activity in a phosphorylation dependent manner (By similarity). Negatively regulates osteoclastogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(1936,'UniProt Function',NULL,2501,NULL,'Isoform 8: Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Promotes populations of T cells regulating IgA production and secretion associated with control of the commensal microbiota and resistance to enteropathogens (By similarity).',NULL,NULL,NULL,NULL,NULL),(1937,'UniProt Function',NULL,2502,NULL,'Interacts strongly with CDK6, weakly with CDK4. Inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein RB.',NULL,NULL,NULL,NULL,NULL),(1938,'UniProt Function',NULL,2503,NULL,'Major granulocyte receptor mediating recognition and efficient opsonin-independent phagocytosis of CEACAM-binding microorganisms, including Neissiria, Moxarella and Haemophilus species, thus playing an important role in the clearance of pathogens by the innate immune system. Responsible for RAC1 stimulation in the course of pathogen phagocytosis.',NULL,NULL,NULL,NULL,NULL),(1939,'UniProt Function',NULL,2506,NULL,'Transcription factor that binds to the promoter and the enhancer regions of target genes. Binds to the enhancer element PRE-I (positive regulatory element-I) of the IL-4 gene (PubMed:7665092). Binds to the promoter and the enhancer of the immunoglobulin heavy chain. Binds to GPE1, a cis-acting element in the G-CSF gene promoter.',NULL,NULL,NULL,NULL,NULL),(1940,'UniProt Function',NULL,2507,NULL,'Microtubule plus-end-directed kinetochore motor which plays an important role in chromosome congression, microtubule-kinetochore conjugation and spindle assembly checkpoint activation. Drives chromosome congression (alignment of chromosomes at the spindle equator resulting in the formation of the metaphase plate) by mediating the lateral sliding of polar chromosomes along spindle microtubules towards the spindle equator and by aiding the establishment and maintenance of connections between kinetochores and spindle microtubules (PubMed:7889940, PubMed:23891108, PubMed:25395579). The transport of pole-proximal chromosomes towards the spindle equator is favored by microtubule tracks that are detyrosinated (PubMed:25908662). Acts as a processive bi-directional tracker of dynamic microtubule tips; after chromosomes have congressed, continues to play an active role at kinetochores, enhancing their links with dynamic microtubule ends (PubMed:23955301). Suppresses chromosome congression in NDC80-depleted cells and contributes positively to congression only when microtubules are stabilized (PubMed:25743205). Plays an important role in the formation of stable attachments between kinetochores and spindle microtubules (PubMed:17535814) The stabilization of kinetochore-microtubule attachment also requires CENPE-dependent localization of other proteins to the kinetochore including BUB1B, MAD1 and MAD2. Plays a role in spindle assembly checkpoint activation (SAC) via its interaction with BUB1B resulting in the activation of its kinase activity, which is important for activating SAC. Necessary for the mitotic checkpoint signal at individual kinetochores to prevent aneuploidy due to single chromosome loss (By similarity).',NULL,NULL,NULL,NULL,NULL),(1941,'UniProt Function',NULL,2508,NULL,'Involved in neuronal differentiation.',NULL,NULL,NULL,NULL,NULL),(1942,'UniProt Function',NULL,2509,NULL,'Chromatin reader component of histone-modifying complexes, such as the CERF (CECR2-containing-remodeling factor) complex and ISWI-type complex (PubMed:15640247, PubMed:26365797, PubMed:22464331). It thereby plays a role in various processes during development: required during embryogenesis for neural tube closure and inner ear development. In adults, required for spermatogenesis, via the formation of ISWI-type chromatin complexes (By similarity). In histone-modifying complexes, CECR2 recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated (PubMed:26365797, PubMed:22464331). May also be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis (PubMed:11827465).',NULL,NULL,NULL,NULL,NULL),(1943,'UniProt Function',NULL,2510,NULL,'Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Required for the localization of CENPF, MAD1L1 and MAD2 (MAD2L1 or MAD2L2) to kinetochores. Involved in the response of gonadal tissues to follicle-stimulating hormone.',NULL,NULL,NULL,NULL,NULL),(1944,'UniProt Function',NULL,2511,NULL,'Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication.',NULL,NULL,NULL,NULL,NULL),(1945,'UniProt Function',NULL,2512,NULL,'DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:20347428, PubMed:20347429). In complex with CENPX (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM (PubMed:20347428, PubMed:20347429). In complex with CENPX and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked replication forks (PubMed:20347428). In complex with CENPT, CENPW and CENPX (CENP-T-W-S-X heterotetramer), involved in the formation of a functional kinetochore outer plate, which is essential for kinetochore-microtubule attachment and faithful mitotic progression (PubMed:19620631). As a component of MHF and CENP-T-W-S-X complexes, binds DNA and bends it to form a nucleosome-like structure (PubMed:20347428, PubMed:22304917). DNA-binding function is fulfilled in the presence of CENPX, with the following preference for DNA substates: Holliday junction > double-stranded > splay arm > single-stranded. Does not bind DNA on its own (PubMed:20347428, PubMed:20347429).',NULL,NULL,NULL,NULL,NULL),(1946,'UniProt Function',NULL,2513,NULL,'May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing mainly one fatty acid donor (N-linked stearoyl- (C18) ceramide) in a fumonisin B1-independent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(1947,'UniProt Function',NULL,2514,NULL,'Acts as a key negative regulator of ciliogenesis in collaboration with CCP110 by capping the mother centriole thereby preventing cilia formation. Required for recruitment of CCP110 to the centrosome.',NULL,NULL,NULL,NULL,NULL),(1948,'UniProt Function',NULL,2515,NULL,'Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation (By similarity). The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres (By similarity). Part of a nucleosome-associated complex that binds specifically to histone H3-containing nucleosomes at the centromere, as opposed to nucleosomes containing CENPA. Component of the heterotetrameric CENP-T-W-S-X complex that binds and supercoils DNA, and plays an important role in kinetochore assembly. CENPW has a fundamental role in kinetochore assembly and function. It is one of the inner kinetochore proteins, with most further proteins binding downstream. Required for normal chromosome organization and normal progress through mitosis.',NULL,NULL,NULL,NULL,NULL),(1949,'UniProt Function',NULL,2516,NULL,'Cilium- and flagellum-associated protein (PubMed:29606301). In the olfactory epithelium, regulates the speed of activation and termination of the odor response and thus contributes to the robustness of olfactory transduction pathways (By similarity). Required for sperm flagellum assembly and stability (PubMed:29606301).',NULL,NULL,NULL,NULL,NULL),(1950,'UniProt Function',NULL,2523,NULL,'Specifically required during spermatogenesis for flagellum morphogenesis and sperm motility. May be required to suppress the formation of supernumerary axonemes and ensure a correct ultrastructure.',NULL,NULL,NULL,NULL,NULL),(1951,'UniProt Function',NULL,2524,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Negatively regulates TCR (T-cell receptor), BCR (B-cell receptor) and FCER1 (high affinity immunoglobulin epsilon receptor) signal transduction pathways. In naive T-cells, inhibits VAV1 activation upon TCR engagement and imposes a requirement for CD28 costimulation for proliferation and IL-2 production. Also acts by promoting PIK3R1/p85 ubiquitination, which impairs its recruitment to the TCR and subsequent activation. In activated T-cells, inhibits PLCG1 activation and calcium mobilization upon restimulation and promotes anergy. In B-cells, acts by ubiquitinating SYK and promoting its proteasomal degradation. Slightly promotes SRC ubiquitination. May be involved in EGFR ubiquitination and internalization. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3. In association with CBL, required for proper feedback inhibition of ciliary platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway via ubiquitination and internalization of PDGFRA (By similarity).',NULL,NULL,NULL,NULL,NULL),(1952,'UniProt Function',NULL,2525,NULL,'Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Does not show detyrosinase or deglycylase activities from the carboxy-terminus of tubulin.',NULL,NULL,NULL,NULL,NULL),(1953,'UniProt Function',NULL,2526,NULL,'Dual-specificity phosphatase. Preferentially dephosphorylates proteins modified by proline-directed kinases (By similarity).',NULL,NULL,NULL,NULL,NULL),(1954,'UniProt Function',NULL,2527,NULL,'Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes polyglutamates from the carboxy-terminus of target proteins such as MYLK. Mediates deglutamylation of CGAS, regulating the antiviral activity of CGAS. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5.',NULL,NULL,NULL,NULL,NULL),(1955,'UniProt Function',NULL,2533,NULL,'Isoform 2: Secreted protein may play a role in transcription regulation via the MAPK3/MAPK1 pathway through an unidentified receptor on the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(1956,'UniProt Function',NULL,2535,NULL,'Probably involved in neuronal development.',NULL,NULL,NULL,NULL,NULL),(1957,'UniProt Function',NULL,2538,NULL,'May play a role in tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(1958,'UniProt Function',NULL,2539,NULL,'Regulates the gating properties of AMPA-selective glutamate receptors (AMPARs). Modulates their gating properties by accelerating their rates of activation, deactivation and desensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity for GRIA1, GRIA4 and the long isoform of GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity).',NULL,NULL,NULL,NULL,NULL),(1959,'UniProt Function',NULL,2540,NULL,'Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D1/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. Exhibits transcriptional corepressor activity with INSM1 on the NEUROD1 and INS promoters in a cell cycle-independent manner.',NULL,NULL,NULL,NULL,NULL),(1960,'UniProt Function',NULL,2541,NULL,'Mediates B-cell B-cell interactions. May be involved in the localization of B-cells in lymphoid tissues. Binds sialylated glycoproteins; one of which is CD45. Preferentially binds to alpha-2,6-linked sialic acid. The sialic acid recognition site can be masked by cis interactions with sialic acids on the same cell surface. Upon ligand induced tyrosine phosphorylation in the immune response seems to be involved in regulation of B-cell antigen receptor signaling. Plays a role in positive regulation through interaction with Src family tyrosine kinases and may also act as an inhibitory receptor by recruiting cytoplasmic phosphatases via their SH2 domains that block signal transduction through dephosphorylation of signaling molecules.',NULL,NULL,NULL,NULL,NULL),(1961,'UniProt Function',NULL,2542,NULL,'Cell adhesion molecule that mediates cell-cell contacts and regulates T-cell responses via its interaction with ALCAM/CD166 (PubMed:15048703, PubMed:15294938, PubMed:16352806, PubMed:16914752, PubMed:24945728, PubMed:24584089). Contributes to signaling cascades triggered by activation of the TCR/CD3 complex (PubMed:24584089). Functions as costimulatory molecule; promotes T-cell activation and proliferation (PubMed:15294938, PubMed:16352806, PubMed:16914752). Contributes to the formation and maturation of the immunological synapse (PubMed:15294938, PubMed:16352806). Functions as calcium-dependent pattern receptor that binds and aggregates both Gram-positive and Gram-negative bacteria. Binds both lipopolysaccharide (LPS) from Gram-negative bacteria and lipoteichoic acid from Gram-positive bacteria (PubMed:17601777). LPS binding leads to the activation of signaling cascades and down-stream MAP kinases (PubMed:17601777). Mediates activation of the inflammatory response and the secretion of pro-inflammatory cytokines in response to LPS (PubMed:17601777).',NULL,NULL,NULL,NULL,NULL),(1962,'UniProt Function',NULL,2543,NULL,'Integral membrane protein associated with integrins, which regulates different processes, such as sperm-egg fusion, platelet activation and aggregation, and cell adhesion (PubMed:8478605, PubMed:14575715, PubMed:18541721). Present at the cell surface of oocytes and plays a key role in sperm-egg fusion, possibly by organizing multiprotein complexes and the morphology of the membrane required for the fusion (By similarity). Acts as a receptor for PSG17 (By similarity). Involved in platelet activation and aggregation (PubMed:18541721). Regulates paranodal junction formation (By similarity). Involved in cell adhesion, cell motility and tumor metastasis (PubMed:8478605, PubMed:7511626).',NULL,NULL,NULL,NULL,NULL),(1963,'UniProt Function',NULL,2544,NULL,'May participate in the regulation of cell proliferation through the E2F/RB pathway. May be involved in molecular regulation of hematopoietic stem cells and progenitor cell lineage commitment and differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(1964,'UniProt Function',NULL,2546,NULL,'p35 is a neuron specific activator of CDK5. The complex p35/CDK5 is required for neurite outgrowth and cortical lamination. Involved in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling. Activator of TPKII. The complex p35/CDK5 participates in the regulation of the circadian clock by modulating the function of CLOCK protein: phosphorylates CLOCK at \'Thr-451\' and \'Thr-461\' and regulates the transcriptional activity of the CLOCK-ARNTL/BMAL1 heterodimer in association with altered stability and subcellular distribution.',NULL,NULL,NULL,NULL,NULL),(1965,'UniProt Function',NULL,2547,NULL,'Acts as an important p53/TP53-apoptotic effector. Regulates TNF-alpha-mediated apoptosis in a p53/TP53-dependent manner.',NULL,NULL,NULL,NULL,NULL),(1966,'UniProt Function',NULL,2551,NULL,'May have histone acetyltransferase activity.',NULL,NULL,NULL,NULL,NULL),(1967,'UniProt Function',NULL,2552,NULL,'Together with the tyrosine-protein kinase SYK, enhances production of the cytokine CXCL8/IL-8 via the NFKB pathway and may thus have a role in the intestinal immune response.',NULL,NULL,NULL,NULL,NULL),(1968,'UniProt Function',NULL,2554,NULL,'Probably plays a role in trafficking of proteins via its interaction with UNC119 and UNC119B cargo adapters: may help the release of UNC119 and UNC119B cargo or the recycling of UNC119 and UNC119B (PubMed:22085962). May play a role in ciliary membrane localization via its interaction with UNC119B and protein transport into photoreceptor cells (PubMed:22085962).',NULL,NULL,NULL,NULL,NULL),(1969,'UniProt Function',NULL,2558,NULL,'Required for mitotic centrosome maturation and bipolar spindle assembly (PubMed:25042804, PubMed:17980596, PubMed:18207742). Appears to be a major regulator of pericentriolar material (PCM) recruitment, centrosome maturation, and centriole duplication (PubMed:25042804, PubMed:17980596, PubMed:18207742). Centrosome-specific activating scaffold for AURKA and PLK1 (PubMed:25042804).',NULL,NULL,NULL,NULL,NULL),(1970,'UniProt Function',NULL,2559,NULL,'Receptor that may have an important role in cell/cell signaling during nervous system formation.',NULL,NULL,NULL,NULL,NULL),(1971,'UniProt Function',NULL,2560,NULL,'Acts upon elastin.',NULL,NULL,NULL,NULL,NULL),(1972,'UniProt Function',NULL,2561,NULL,'RNA-binding protein involved in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.',NULL,NULL,NULL,NULL,NULL),(1973,'UniProt Function',NULL,2562,NULL,'Suppresses the growth of cancer cells. May be involved in sphingolipid synthesis.',NULL,NULL,NULL,NULL,NULL),(1974,'UniProt Function',NULL,2563,NULL,'May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing different fatty acid donors (N-linked stearoyl- (C18) or arachidoyl- (C20) ceramides) in a fumonisin B1-independent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(1975,'UniProt Function',NULL,2565,NULL,'Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres.',NULL,NULL,NULL,NULL,NULL),(1976,'UniProt Function',NULL,2566,NULL,'Ceruloplasmin is a blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane. Provides Cu(2+) ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of GPC1. May also play a role in fetal lung development or pulmonary antioxidant defense (By similarity).',NULL,NULL,NULL,NULL,NULL),(1977,'UniProt Function',NULL,2567,NULL,'Exhibits histone deacetylase (HDAC) enhancer properties (PubMed:23460338). May play a role in cell cycle progression and wound repair of bronchial epithelial cells (PubMed:21857995).',NULL,NULL,NULL,NULL,NULL),(1978,'UniProt Function',NULL,2569,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1979,'UniProt Function',NULL,2570,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1980,'UniProt Function',NULL,2571,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1981,'UniProt Function',NULL,2572,NULL,'Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/bruce by inhibiting its binding to caspases. Isoform 3 attenuates the stability and apoptosis-inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Isoform 3 also disrupts XIAP/BIRC4 interacting with processed caspase-9 and promotes caspase-3 activation. Isoform 1 is defective in the capacity to down-regulate the XIAP/BIRC4 abundance.',NULL,NULL,NULL,NULL,NULL),(1982,'UniProt Function',NULL,2573,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1983,'UniProt Function',NULL,2575,NULL,'May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(1984,'UniProt Function',NULL,2578,NULL,'Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation.',NULL,NULL,NULL,NULL,NULL),(1985,'UniProt Function',NULL,2579,NULL,'Required for DNA repair. Binds to DDB2 to form the UV-damaged DNA-binding protein complex (the UV-DDB complex). The UV-DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1. DCX(DDB2) (also known as DDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair. DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication. DCX(ERCC8) (the CSA complex) plays a role in transcription-coupled repair (TCR). May also play a role in ubiquitination of CDKN1B/p27kip when associated with CUL4 and SKP2.',NULL,NULL,NULL,NULL,NULL),(1986,'UniProt Function',NULL,2580,NULL,'Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane.',NULL,NULL,NULL,NULL,NULL),(1987,'UniProt Function',NULL,2581,NULL,'DNA helicase involved in cellular proliferation. Probably required for maintaining the chromosome segregation (By similarity).',NULL,NULL,NULL,NULL,NULL),(1988,'UniProt Function',NULL,2582,NULL,'Transcription factor that binds to sequence with multiple copies of 5\'-TTC[CG]G-3\' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5\'-AGGGTTCACCGAAAGTTCA-3\'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning. Regulates epithelial cell proliferation and side-branching in the mammary gland. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. Isoform 1 displays greater transcriptional activity than isoform 4. Isoform 4 may inhibit transcriptional activity of isoform 1 by interacting with isoform 1 and retaining it in the cytoplasm. Transcriptional activator of EIF4G3.',NULL,NULL,NULL,NULL,NULL),(1989,'UniProt Function',NULL,2583,NULL,'Has very low antimicrobial activity against Gram-negative and Gram-positive bacteria. May protect cells against infection with HIV-1.',NULL,NULL,NULL,NULL,NULL),(1990,'UniProt Function',NULL,2584,NULL,'Probable ATP-dependent RNA helicase. May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(1991,'UniProt Function',NULL,2585,NULL,'Guanine nucleotide exchange factor (GEF) activating RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB10 into its active GTP-bound form. Thereby, stimulates SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane in response to insulin.',NULL,NULL,NULL,NULL,NULL),(1992,'UniProt Function',NULL,2586,NULL,'Mitochondrial glutamate dehydrogenase that converts L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity).',NULL,NULL,NULL,NULL,NULL),(1993,'UniProt Function',NULL,2587,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(1994,'UniProt Function',NULL,2589,NULL,'Loads PCNA onto primed templates regulating velocity, spacing and restart activity of replication forks. May couple DNA replication to sister chromatid cohesion through regulation of the acetylation of the cohesin subunit SMC3.',NULL,NULL,NULL,NULL,NULL),(1995,'UniProt Function',NULL,2590,NULL,'Probable kinase that may be involved in a calcium-signaling pathway controlling neuronal migration in the developing brain. May also participate in functions of the mature nervous system.',NULL,NULL,NULL,NULL,NULL),(1996,'UniProt Function',NULL,2593,NULL,'Protein which interacts with the E3 UFM1-protein ligase UFL1 and one of its substrates TRIP4 and is required for TRIP4 ufmylation. Through TRIP4 ufmylation may regulate nuclear receptors-mediated transcription (PubMed:25219498). May play a role in NF-kappa-B-mediated transcription through regulation of the phosphorylation and the degradation of NFKBIA, the inhibitor of NF-kappa-B (PubMed:23675531). May also play a role in the cellular response to endoplasmic reticulum stress (By similarity). Plays a role in cartilage development through SOX9, inhibiting the ubiquitin-mediated proteasomal degradation of this transcriptional regulator (PubMed:28263186).',NULL,NULL,NULL,NULL,NULL),(1997,'UniProt Function',NULL,2594,NULL,'May have lyase activity.',NULL,NULL,NULL,NULL,NULL),(1998,'UniProt Function',NULL,2595,NULL,'May play a critical role in death receptor-induced apoptosis and may target CASP8 and CASP10 to the nucleus. May regulate degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3.',NULL,NULL,NULL,NULL,NULL),(1999,'UniProt Function',NULL,2596,NULL,'Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.',NULL,NULL,NULL,NULL,NULL),(2000,'UniProt Function',NULL,2597,NULL,'Catalyzes the hydrolysis of diacylglycerol (DAG) to 2-arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses.',NULL,NULL,NULL,NULL,NULL),(2001,'UniProt Function',NULL,2598,NULL,'Catalyzes the second of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3-ketoacyl-CoA to 3-hydroxyacyl-CoA, within each cycle of fatty acid elongation. Thereby, it may participate in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May also catalyze the transformation of estrone (E1) into estradiol (E2) and play a role in estrogen formation.',NULL,NULL,NULL,NULL,NULL),(2002,'UniProt Function',NULL,2599,NULL,'Putative oxidoreductase.',NULL,NULL,NULL,NULL,NULL),(2003,'UniProt Function',NULL,2600,NULL,'Probable ATP-binding RNA helicase.',NULL,NULL,NULL,NULL,NULL),(2004,'UniProt Function',NULL,2601,NULL,'Reduces all-trans-retinal and 9-cis retinal. Can also catalyze the oxidation of all-trans-retinol with NADP as co-factor, but with much lower efficiency. Reduces alkyl phenyl ketones and alpha-dicarbonyl compounds with aromatic rings, such as pyrimidine-4-aldehyde, 3-benzoylpyridine, 4-benzoylpyridine, menadione and 4-hexanoylpyridine. Has no activity towards aliphatic aldehydes and ketones (By similarity).',NULL,NULL,NULL,NULL,NULL),(2005,'UniProt Function',NULL,2602,NULL,'Acts as a regulator of DDX58/RIG-I and IFIH1/MDA5 mediated antiviral signaling. Cannot initiate antiviral signaling as it lacks the CARD domain required for activating MAVS/IPS1-dependent signaling events. Can have both negative and positive regulatory functions related to DDX58/RIG-I and IFIH1/MDA5 signaling and this role in regulating signaling may be complex and could probably depend on characteristics of the infecting virus or target cells, or both. Its inhibitory action on DDX58/RIG-I signaling may involve the following mechanisms: competition with DDX58/RIG-I for binding to the viral RNA, binding to DDX58/RIG-I and inhibiting its dimerization and interaction with MAVS/IPS1, competing with IKBKE in its binding to MAVS/IPS1 thereby inhibiting activation of interferon regulatory factor 3 (IRF3). Its positive regulatory role may involve unwinding or stripping nucleoproteins of viral RNA thereby facilitating their recognition by DDX58/RIG-I and IFIH1/MDA5. Involved in the innate immune response to various RNA viruses and some DNA viruses such as poxviruses, and also to the bacterial pathogen Listeria monocytogenes. Can bind both ssRNA and dsRNA, with a higher affinity for dsRNA. Shows a preference to 5\'-triphosphorylated RNA, although it can recognize RNA lacking a 5\'-triphosphate.',NULL,NULL,NULL,NULL,NULL),(2006,'UniProt Function',NULL,2604,NULL,'Positive effector of the Wnt signaling pathway; activates WNT3A signaling via DVL2. Regulates JNK activation by AXIN1 and DVL2.',NULL,NULL,NULL,NULL,NULL),(2007,'UniProt Function',NULL,2606,NULL,'May negatively affect PAX8-induced thyroglobulin/TG transcription.',NULL,NULL,NULL,NULL,NULL),(2008,'UniProt Function',NULL,2607,NULL,'RNA helicase that acts as a sensor of the transcriptional status of both RNA polymerase (Pol) I and II: promotes ribosomal RNA (rRNA) processing and transcription from polymerase II (Pol II) (PubMed:25470060). Binds various RNAs, such as rRNAs, snoRNAs, 7SK and, at lower extent, mRNAs (PubMed:25470060). In the nucleolus, localizes to rDNA locus, where it directly binds rRNAs and snoRNAs, and promotes rRNA transcription, processing and modification. Required for rRNA 2\'-O-methylation, possibly by promoting the recruitment of late-acting snoRNAs SNORD56 and SNORD58 with pre-ribosomal complexes (PubMed:25470060, PubMed:25477391). In the nucleoplasm, binds 7SK RNA and is recruited to the promoters of Pol II-transcribed genes: acts by facilitating the release of P-TEFb from inhibitory 7SK snRNP in a manner that is dependent on its helicase activity, thereby promoting transcription of its target genes (PubMed:25470060). Functions as cofactor for JUN-activated transcription: required for phosphorylation of JUN at \'Ser-77\' (PubMed:11823437, PubMed:25260534). Can unwind double-stranded RNA (helicase) and can fold or introduce a secondary structure to a single-stranded RNA (foldase) (PubMed:9461305). Involved in rRNA processing (PubMed:14559904, PubMed:18180292). May bind to specific miRNA hairpins (PubMed:28431233). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines via the adapter molecule TICAM1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(2009,'UniProt Function',NULL,2608,NULL,'Probable ATP-binding RNA helicase.',NULL,NULL,NULL,NULL,NULL),(2010,'UniProt Function',NULL,2609,NULL,'Acts as a critical modulator of FOXO3-induced autophagy via increased cellular ROS.',NULL,NULL,NULL,NULL,NULL),(2011,'UniProt Function',NULL,2610,NULL,'Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.',NULL,NULL,NULL,NULL,NULL),(2012,'UniProt Function',NULL,2611,NULL,'Probable acyltransferase uses fatty acyl-CoA as substrate (By similarity). Has no wax synthase activity to produce wax esters.',NULL,NULL,NULL,NULL,NULL),(2013,'UniProt Function',NULL,2612,NULL,'Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). Plays a key role in promoting cell growth. Activates the Ras/B-Raf/C-Raf/MEK/ERK signaling pathway induced by EGF. Regulates the recruitment of RAF1 and BRAF from cytoplasm to membranes and their heterodimerization.',NULL,NULL,NULL,NULL,NULL),(2014,'UniProt Function',NULL,2613,NULL,'Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). May regulate the activity of protein kinase C by controlling the balance between these two signaling lipids. Activated in the nucleus in response to alpha-thrombin and nerve growth factor (By similarity). May be involved in cAMP-induced activation of NR5A1 and subsequent steroidogenic gene transcription by delivering PA as ligand for NR5A1. Acts synergistically with NR5A1 on CYP17 transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(2015,'UniProt Function',NULL,2615,NULL,'Favors the reduction of estrogens and androgens. Also has 20-alpha-HSD activity. Uses preferentially NADH.',NULL,NULL,NULL,NULL,NULL),(2016,'UniProt Function',NULL,2616,NULL,'Catalyzes the NAD-dependent oxidative cleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a critical lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue. This is the first step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine. Hypusination is unique to mature eIF-5A factor and is essential for its function.',NULL,NULL,NULL,NULL,NULL),(2017,'UniProt Function',NULL,2617,NULL,'Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).',NULL,NULL,NULL,NULL,NULL),(2018,'UniProt Function',NULL,2618,NULL,'NAD-dependent 17-beta-hydroxysteroid dehydrogenase with highest activity towards estradiol. Has very low activity towards testosterone (PubMed:17978863). The heterotetramer with CBR4 has NADH-dependent 3-ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis (PubMed:19571038, PubMed:25203508). Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD (PubMed:25203508).',NULL,NULL,NULL,NULL,NULL),(2019,'UniProt Function',NULL,2619,NULL,'Isoform 1: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674). Each rRNA can contain up to 100 pseudouridine (\'psi\') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674). Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534).',NULL,NULL,NULL,NULL,NULL),(2020,'UniProt Function',NULL,2619,NULL,'Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression.',NULL,NULL,NULL,NULL,NULL),(2021,'UniProt Function',NULL,2620,NULL,'Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal (By similarity). Synergizes with SCUBE2 to cause a increase in SHH secretion (PubMed:22902404).',NULL,NULL,NULL,NULL,NULL),(2022,'UniProt Function',NULL,2621,NULL,'Displays low GTPase activity and exists predominantly in the GTP-bound form.',NULL,NULL,NULL,NULL,NULL),(2023,'UniProt Function',NULL,2622,NULL,'Catalyzes the production of GABA.',NULL,NULL,NULL,NULL,NULL),(2024,'UniProt Function',NULL,2623,NULL,'May be an anti-apoptotic protein involved in DNA repair or cell survival.',NULL,NULL,NULL,NULL,NULL),(2025,'UniProt Function',NULL,2624,NULL,'Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity (PubMed:22922100). Required for the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER) (PubMed:17428803).',NULL,NULL,NULL,NULL,NULL),(2026,'UniProt Function',NULL,2625,NULL,'Positively regulates DDX58/RIG-I- and IFIH1/MDA5-dependent type I interferon and interferon inducible gene expression in response to viral infection. Binds ssRNA, dsRNA and dsDNA and can promote the binding of DDX58/RIG-I to dsRNA. Exhibits antiviral activity against hepatitis C virus and vesicular stomatitis virus (VSV).',NULL,NULL,NULL,NULL,NULL),(2027,'UniProt Function',NULL,2626,NULL,'ATP-dependent RNA helicase.',NULL,NULL,NULL,NULL,NULL),(2028,'UniProt Function',NULL,2627,NULL,'Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA.',NULL,NULL,NULL,NULL,NULL),(2029,'UniProt Function',NULL,2630,NULL,'Has RNA-dependent ATPase activity. Represses the transcriptional activity of nuclear receptors.',NULL,NULL,NULL,NULL,NULL),(2030,'UniProt Function',NULL,2631,NULL,'Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo- and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double-stranded DNA with a preference for 5\'-single-stranded DNA overhangs. Is involved in several steps of gene expression, such as transcription, mRNA maturation, mRNA export and translation. However, the exact mechanisms are not known and some functions may be specific for a subset of mRNAs. Involved in transcriptional regulation. Can enhance transcription from the CDKN1A/WAF1 promoter in a SP1-dependent manner. Found associated with the E-cadherin promoter and can down-regulate transcription from the promoter. Involved in regulation of translation initiation. Proposed to be involved in positive regulation of translation such as of cyclin E1/CCNE1 mRNA and specifically of mRNAs containing complex secondary structures in their 5\'UTRs; these functions seem to require RNA helicase activity. Specifically promotes translation of a subset of viral and cellular mRNAs carrying a 5\'proximal stem-loop structure in their 5\'UTRs and cooperates with the eIF4F complex. Proposed to act prior to 43S ribosomal scanning and to locally destabilize these RNA structures to allow recognition of the mRNA cap or loading onto the 40S subunit. After association with 40S ribosomal subunits seems to be involved in the functional assembly of 80S ribosomes; the function seems to cover translation of mRNAs with structured and non-structured 5\'UTRs and is independent of RNA helicase activity. Also proposed to inhibit cap-dependent translation by competetive interaction with EIF4E which can block the EIF4E:EIF4G complex formation. Proposed to be involved in stress response and stress granule assembly; the function is independent of RNA helicase activity and seems to involve association with EIF4E. May be involved in nuclear export of specific mRNAs but not in bulk mRNA export via interactions with XPO1 and NXF1. Also associates with polyadenylated mRNAs independently of NXF1. Associates with spliced mRNAs in an exon junction complex (EJC)-dependent manner and seems not to be directly involved in splicing. May be involved in nuclear mRNA export by association with DDX5 and regulating its nuclear location. Involved in innate immune signaling promoting the production of type I interferon (IFN-alpha and IFN-beta); proposed to act as viral RNA sensor, signaling intermediate and transcriptional coactivator. Involved in TBK1 and IKBKE-dependent IRF3 activation leading to IFNB induction, plays a role of scaffolding adapter that links IKBKE and IRF3 and coordinates their activation. Also found associated with IFNB promoters; the function is independent of IRF3. Can bind to viral RNAs and via association with MAVS/IPS1 and DDX58/RIG-I is thought to induce signaling in early stages of infection. Involved in regulation of apoptosis. May be required for activation of the intrinsic but inhibit activation of the extrinsic apoptotic pathway. Acts as an antiapoptotic protein through association with GSK3A/B and BIRC2 in an apoptosis antagonizing signaling complex; activation of death receptors promotes caspase-dependent cleavage of BIRC2 and DDX3X and relieves the inhibition. May be involved in mitotic chromosome segregation. Is an allosteric activator of CSNK1E, it stimulates CSNK1E-mediated phosphorylation of DVL2 and is involved in the positive regulation of canonical Wnt signaling (PubMed:23413191).',NULL,NULL,NULL,NULL,NULL),(2031,'UniProt Function',NULL,2631,NULL,'(Microbial infection) Appears to be a prime target for viral manipulations. Hepatitis B virus (HBV) polymerase and possibly vaccinia virus (VACV) protein K7 inhibit IFNB induction probably by dissociating DDX3X from TBK1 or IKBKE. Is involved in hepatitis C virus (HCV) replication; the function may involve the association with HCV core protein. HCV core protein inhibits the IPS1-dependent function in viral RNA sensing and may switch the function from a INFB inducing to a HCV replication mode. Involved in HIV-1 replication. Acts as a cofactor for XPO1-mediated nuclear export of incompletely spliced HIV-1 Rev RNAs.',NULL,NULL,NULL,NULL,NULL),(2032,'UniProt Function',NULL,2633,NULL,'Can convert androstan-3-alpha,17-beta-diol (3-alpha-diol) to androsterone in vitro, suggesting that it may participate in androgen metabolism during steroidogenesis. May act by metabolizing compounds that stimulate steroid synthesis and/or by generating metabolites that inhibit it. Has no activity toward DHEA (dehydroepiandrosterone), or A-dione (4-androste-3,17-dione), and only a slight activity toward testosterone to A-dione. Tumor-associated antigen in cutaneous T-cell lymphoma.',NULL,NULL,NULL,NULL,NULL),(2033,'UniProt Function',NULL,2634,NULL,'Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).',NULL,NULL,NULL,NULL,NULL),(2034,'UniProt Function',NULL,2635,NULL,'RNA-dependent helicase (PubMed:29100085). Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715, PubMed:29100085). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA (PubMed:18063578). Involved in nervous system development and differentiation through its involvement in the up-regulation of a number of genes which are required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD (By similarity).',NULL,NULL,NULL,NULL,NULL),(2035,'UniProt Function',NULL,2636,NULL,'Putative cytoplasm-specific catalytic component of the RNA exosome complex which has 3\'->5\' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3\' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA.',NULL,NULL,NULL,NULL,NULL),(2036,'UniProt Function',NULL,2638,NULL,'Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3\' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, also called RNA interference, controls the elimination of transcripts from mobile and repetitive DNA elements of the genome but also the degradation of exogenous RNA of viral origin for instance. The miRNA pathway on the other side is a mean to specifically regulate the expression of target genes.',NULL,NULL,NULL,NULL,NULL),(2037,'UniProt Function',NULL,2639,NULL,'Probable ATP-binding RNA helicase.',NULL,NULL,NULL,NULL,NULL),(2038,'UniProt Function',NULL,2640,NULL,'Responsible for the reduction of the keto group on the C-3 of sterols.',NULL,NULL,NULL,NULL,NULL),(2039,'UniProt Function',NULL,2641,NULL,'Isoform 1: Required for mitochondrial inner membrane organization. Seems to function through its association with the MICOS complex and the mitochondrial outer membrane sorting assembly machinery (SAM) complex.',NULL,NULL,NULL,NULL,NULL),(2040,'UniProt Function',NULL,2642,NULL,'Mitochondrial protein enriched in neurons that acts as a regulator of mitochondrial respiration (By similarity). Associates with the ATP synthase complex and facilitates ATP synthesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(2041,'UniProt Function',NULL,2643,NULL,'Regulates the export of target proteins, such as DRD1, from the endoplasmic reticulum to the cell surface.',NULL,NULL,NULL,NULL,NULL),(2042,'UniProt Function',NULL,2644,NULL,'Negative regulator of the mitochondrial respiratory chain. Prevents mitochondrial hyperpolarization state and restricts mitochondrial generation of ATP (By similarity). Acts as an import component of the TIM23 translocase complex. Stimulates the ATPase activity of HSPA9.',NULL,NULL,NULL,NULL,NULL),(2043,'UniProt Function',NULL,2645,NULL,'As a co-chaperone for HSPA5 it is required for proper folding, trafficking or degradation of proteins (PubMed:10827079, PubMed:15525676, PubMed:29706351). Binds directly to both unfolded proteins that are substrates for ERAD and nascent unfolded peptide chains, but dissociates from the HSPA5-unfolded protein complex before folding is completed (PubMed:15525676). May help recruiting HSPA5 and other chaperones to the substrate. Stimulates HSPA5 ATPase activity (PubMed:10827079). It is necessary for maturation and correct trafficking of PKD1 (PubMed:29706351).',NULL,NULL,NULL,NULL,NULL),(2044,'UniProt Function',NULL,2646,NULL,'Plays a role as a transcriptional activator or repressor (PubMed:14671321). Inhibits several cytokine signaling pathways, such as TGFB1, activin-A/INHBA and BMP4 by interfering with the transcriptional stimulatory activity of transcription factors, such as MSX2, FAST2, SMAD2 and SMAD3 during hematopoietic cell differentiation (PubMed:14671321). Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina (By similarity). Likely to play a regulatory role in the development of the ventral forebrain (By similarity). May play a role in craniofacial patterning and morphogenesis and may be involved in the early development of diencephalic subdivisions (By similarity).',NULL,NULL,NULL,NULL,NULL),(2045,'UniProt Function',NULL,2647,NULL,'Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission.',NULL,NULL,NULL,NULL,NULL),(2046,'UniProt Function',NULL,2648,NULL,'May act as a soluble regulator of keratinocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(2047,'UniProt Function',NULL,2649,NULL,'Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts. Involved in bone resorption.',NULL,NULL,NULL,NULL,NULL),(2048,'UniProt Function',NULL,2650,NULL,'May be involved in the translation of target mRNAs by scanning and recognition of the initiation codon. Involved in translation initiation; promotes recruitmnet of aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits. Plays a role in the modulation of the translational profile of a subset of cancer-related mRNAs when recruited to the translational initiation complex by the oncogene MCTS1.',NULL,NULL,NULL,NULL,NULL),(2049,'UniProt Function',NULL,2651,NULL,'Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of neurite outgrowth (By similarity).',NULL,NULL,NULL,NULL,NULL),(2050,'UniProt Function',NULL,2652,NULL,'May be involved in transcriptional regulation as a transcriptional corepressor. The DEPDC1A-ZNF224 complex may play a critical role in bladder carcinogenesis by repressing the transcription of the A20 gene, leading to transport of NF-KB protein into the nucleus, resulting in suppression of apoptosis of bladder cancer cells.',NULL,NULL,NULL,NULL,NULL),(2051,'UniProt Function',NULL,2653,NULL,'Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and misfolded glycoproteins (PubMed:16186509, PubMed:16449189). May also be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908).',NULL,NULL,NULL,NULL,NULL),(2052,'UniProt Function',NULL,2653,NULL,'(Microbial infection) In contrast to DERL1, it is not involved in the degradation of MHC class I heavy chains following infection by cytomegaloviruses.',NULL,NULL,NULL,NULL,NULL),(2053,'UniProt Function',NULL,2654,NULL,'Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded glycoproteins (PubMed:16449189, PubMed:22607976). May be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908).',NULL,NULL,NULL,NULL,NULL),(2054,'UniProt Function',NULL,2655,NULL,'Seems to mediate adhesion by cell surface integrin binding. May serve as a communication link between the dermal fibroblast cell surface and its extracellular matrix environment. Enhances TGFB1 activity. Inhibits cell proliferation. Accelerates collagen fibril formation, and stabilizes collagen fibrils against low-temperature dissociation (By similarity).',NULL,NULL,NULL,NULL,NULL),(2055,'UniProt Function',NULL,2656,NULL,'Has deubiquitinating activity towards \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains. Deubiquitinates \'Lys-48\'-linked polyubiquitination of RPS7 leading to its stabilization (PubMed:28483520).',NULL,NULL,NULL,NULL,NULL),(2056,'UniProt Function',NULL,2657,NULL,'Actin-depolymerizing protein. Severs actin filaments (F-actin) and binds to actin monomers (G-actin). Acts in a pH-independent manner.',NULL,NULL,NULL,NULL,NULL),(2057,'UniProt Function',NULL,2658,NULL,'Reverses the normal flow of glycerolipid biosynthesis by phosphorylating diacylglycerol back to phosphatidic acid.',NULL,NULL,NULL,NULL,NULL),(2058,'UniProt Function',NULL,2660,NULL,'Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids.',NULL,NULL,NULL,NULL,NULL),(2059,'UniProt Function',NULL,2661,NULL,'The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.',NULL,NULL,NULL,NULL,NULL),(2060,'UniProt Function',NULL,2662,NULL,'Involved in the degradation of asparagine-linked glycoproteins. Hydrolyze of N-acetyl-beta-D-glucosamine (1-4)N-acetylglucosamine chitobiose core from the reducing end of the bond, it requires prior cleavage by glycosylasparaginase.',NULL,NULL,NULL,NULL,NULL),(2061,'UniProt Function',NULL,2663,NULL,'Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells (PubMed:20937854, PubMed:21834987, PubMed:26912466). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854, PubMed:21834987). It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity (PubMed:20937854, PubMed:21834987). In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854, PubMed:21834987). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755). Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(2062,'UniProt Function',NULL,2664,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (PubMed:8608946).',NULL,NULL,NULL,NULL,NULL),(2063,'UniProt Function',NULL,2665,NULL,'Involved in pre-mRNA splicing. Contributes to pre-mRNA splicing after spliceosome formation and prior to the first transesterification reaction.',NULL,NULL,NULL,NULL,NULL),(2064,'UniProt Function',NULL,2667,NULL,'Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds to GTP-bound form of Rho and to profilin: acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity.',NULL,NULL,NULL,NULL,NULL),(2065,'UniProt Function',NULL,2668,NULL,'May have a role in protein folding or as a chaperone.',NULL,NULL,NULL,NULL,NULL),(2066,'UniProt Function',NULL,2669,NULL,'Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome transport implicated in degradation of EGF and EGFR (PubMed:18256511, PubMed:18307993). Involved in the regulation of endosomal membrane tubulation and regulates th dynamics of SNX1 on the endosomal membrane; via association with WASHC2 may link the WASH complex to the retromer SNX-BAR subcomplex (PubMed:24643499).',NULL,NULL,NULL,NULL,NULL),(2067,'UniProt Function',NULL,2670,NULL,'Involved in the regulation of multiple aspects of embryonic and adult neurogenesis. Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus. Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance. Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including neuron positioning, dendritic development and synapse formation. Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A. Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development. Plays a role, together with PCNT, in the microtubule network formation.',NULL,NULL,NULL,NULL,NULL),(2068,'UniProt Function',NULL,2672,NULL,'Displays low GTPase activity and exists predominantly in the GTP-bound form.',NULL,NULL,NULL,NULL,NULL),(2069,'UniProt Function',NULL,2673,NULL,'Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity).',NULL,NULL,NULL,NULL,NULL),(2070,'UniProt Function',NULL,2674,NULL,'Regulates adipogenesis.',NULL,NULL,NULL,NULL,NULL),(2071,'UniProt Function',NULL,2675,NULL,'May have a dual function during osteoblast differentiation. In the nucleus of undifferentiated osteoblasts, unphosphorylated form acts as a transcriptional component for activation of osteoblast-specific genes like osteocalcin. During the osteoblast to osteocyte transition phase it is phosphorylated and exported into the extracellular matrix, where it regulates nucleation of hydroxyapatite.',NULL,NULL,NULL,NULL,NULL),(2072,'UniProt Function',NULL,2676,NULL,'Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length (PubMed:25601850, PubMed:27319779).',NULL,NULL,NULL,NULL,NULL),(2073,'UniProt Function',NULL,2677,NULL,'Catalyzes the biosynthesis of histamine from histidine.',NULL,NULL,NULL,NULL,NULL),(2074,'UniProt Function',NULL,2678,NULL,'Part of an E3 ubiquitin ligase complex for neddylation. Promotes neddylation of cullin components of E3 cullin-RING ubiquitin ligase complexes. Acts by binding to cullin-RBX1 complexes in the cytoplasm and promoting their nuclear translocation, enhancing recruitment of E2-NEDD8 (UBE2M-NEDD8) thioester to the complex, and optimizing the orientation of proteins in the complex to allow efficient transfer of NEDD8 from the E2 to the cullin substrates. Involved in the release of inhibitory effets of CAND1 on cullin-RING ligase E3 complex assembly and activity (PubMed:25349211, PubMed:28581483). Acts also as an oncogene facilitating malignant transformation and carcinogenic progression (By similarity).',NULL,NULL,NULL,NULL,NULL),(2075,'UniProt Function',NULL,2679,NULL,'Decapping scavenger enzyme that catalyzes the cleavage of a residual cap structure following the degradation of mRNAs by the 3\'->5\' exosome-mediated mRNA decay pathway. Hydrolyzes cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG) with up to 10 nucleotide substrates (small capped oligoribonucleotides) and specifically releases 5\'-phosphorylated RNA fragments and 7-methylguanosine monophosphate (m7GMP). Cleaves cap analog structures like tri-methyl guanosine nucleoside triphosphate (m3(2,2,7)GpppG) with very poor efficiency. Does not hydrolyze unmethylated cap analog (GpppG) and shows no decapping activity on intact m7GpppG-capped mRNA molecules longer than 25 nucleotides. Does not hydrolyze 7-methylguanosine diphosphate (m7GDP) to m7GMP (PubMed:22985415). May also play a role in the 5\'->3 mRNA decay pathway; m7GDP, the downstream product released by the 5\'->3\' mRNA mediated decapping activity, may be also converted by DCPS to m7GMP (PubMed:14523240). Binds to m7GpppG and strongly to m7GDP. Plays a role in first intron splicing of pre-mRNAs. Inhibits activation-induced cell death.',NULL,NULL,NULL,NULL,NULL),(2076,'UniProt Function',NULL,2680,NULL,'Probable cell surface receptor that plays several roles in cellular fusion, cell differentiation, bone and immune homeostasis. Plays a role in TNFSF11-mediated osteoclastogenesis. Cooperates with OCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Participates in osteoclast bone resorption. Involved in inducing the expression of tartrate-resistant acid phosphatase in osteoclast precursors. Plays a role in haematopoietic stem cell differentiation of bone marrow cells toward the myeloid lineage. Inhibits the development of neutrophilic granulocytes. Plays also a role in the regulation of dendritic cell (DC) antigen presentation activity by controlling phagocytic activity. Involved in the maintenance of immune self-tolerance and avoidance of autoimmune reactions.',NULL,NULL,NULL,NULL,NULL),(2077,'UniProt Function',NULL,2682,NULL,'ATP-dependent RNA helicase involved in mRNA export from the nucleus. Rather than unwinding RNA duplexes, DDX19 functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(2078,'UniProt Function',NULL,2683,NULL,'May be involved in ubiquitination and subsequent proteasomal degradation of target proteins. Component of the DDD-E2 complexes which may provide a platform for interaction with CUL4A and WD repeat proteins.',NULL,NULL,NULL,NULL,NULL),(2079,'UniProt Function',NULL,2684,NULL,'ATP-dependent RNA helicase. Required for mRNA export and translation regulation during spermatid development (By similarity).',NULL,NULL,NULL,NULL,NULL),(2080,'UniProt Function',NULL,2685,NULL,'ATP-binding RNA helicase involved in the biogenesis of 60S ribosomal subunits.',NULL,NULL,NULL,NULL,NULL),(2081,'UniProt Function',NULL,2686,NULL,'DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis (PubMed:10648783, PubMed:21854770, PubMed:23797032, PubMed:26089203, PubMed:26503245). Its double-stranded DNA helicase activity requires either a minimal 5\'-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single-stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5\' to 3\' direction (PubMed:18499658, PubMed:22102414). The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended up to 500 bp by the replication protein A (RPA) or the cohesion CTF18-replication factor C (Ctf18-RFC) complex activities (PubMed:18499658). Shows also ATPase- and helicase activities on substrates that mimic key DNA intermediates of replication, repair and homologous recombination reactions, including forked duplex, anti-parallel G-quadruplex and three-stranded D-loop DNA molecules (PubMed:22102414, PubMed:26503245). Plays a role in DNA double-strand break (DSB) repair at the DNA replication fork during DNA replication recovery from DNA damage (PubMed:23797032). Recruited with TIMELESS factor upon DNA-replication stress response at DNA replication fork to preserve replication fork progression, and hence ensure DNA replication fidelity (PubMed:26503245). Cooperates also with TIMELESS factor during DNA replication to regulate proper sister chromatid cohesion and mitotic chromosome segregation (PubMed:17105772, PubMed:18499658, PubMed:20124417, PubMed:23116066, PubMed:23797032). Stimulates 5\'-single-stranded DNA flap endonuclease activity of FEN1 in an ATP- and helicase-independent manner; and hence it may contribute in Okazaki fragment processing at DNA replication fork during lagging strand DNA synthesis (PubMed:18499658). Its ability to function at DNA replication fork is modulated by its binding to long non-coding RNA (lncRNA) cohesion regulator non-coding RNA DDX11-AS1/CONCR, which is able to increase both DDX11 ATPase activity and binding to DNA replicating regions (PubMed:27477908). Plays also a role in heterochromatin organization (PubMed:21854770). Involved in rRNA transcription activation through binding to active hypomethylated rDNA gene loci by recruiting UBTF and the RNA polymerase Pol I transcriptional machinery (PubMed:26089203). Plays a role in embryonic development and prevention of aneuploidy (By similarity). Involved in melanoma cell proliferation and survival (PubMed:23116066). Associates with chromatin at DNA replication fork regions (PubMed:27477908). Binds to single- and double-stranded DNAs (PubMed:9013641, PubMed:18499658, PubMed:22102414).',NULL,NULL,NULL,NULL,NULL),(2082,'UniProt Function',NULL,2686,NULL,'(Microbial infection) Required for bovine papillomavirus type 1 regulatory protein E2 loading onto mitotic chromosomes during DNA replication for the viral genome to be maintained and segregated.',NULL,NULL,NULL,NULL,NULL),(2083,'UniProt Function',NULL,2687,NULL,'Plays an essential role in facilitating the proper assembly of the mitochondrial large ribosomal subunit and its helicase activity is essential for this function (PubMed:25683708, PubMed:25683715). May be involved in RNA processing or transport. Has RNA and Mg(2+)-dependent ATPase activity (PubMed:11350955).',NULL,NULL,NULL,NULL,NULL),(2084,'UniProt Function',NULL,2688,NULL,'Probable RNA-dependent helicase.',NULL,NULL,NULL,NULL,NULL),(2085,'UniProt Function',NULL,2689,NULL,'Guanine nucleotide exchange factor (GEF) for RAB14. Component of an endocytic recycling pathway that is required for the control of ADAM10 transport, shedding of N-cadherin/CDH2 by ADAM9 or ADAM10 and regulation of cell-cell junctions. Required for RAB14 recruitment to recycling endosomes.',NULL,NULL,NULL,NULL,NULL),(2086,'UniProt Function',NULL,2691,NULL,'Component of the E3 ubiquitin ligase DCX DET1-COP1 complex, which is required for ubiquitination and subsequent degradation of target proteins. The complex is involved in JUN ubiquitination and degradation.',NULL,NULL,NULL,NULL,NULL),(2087,'UniProt Function',NULL,2692,NULL,'Inhibitor of the caspase-activated DNase (DFF40).',NULL,NULL,NULL,NULL,NULL),(2088,'UniProt Function',NULL,2693,NULL,'Upon cell stimulation converts the second messenger diacylglycerol into phosphatidate, initiating the resynthesis of phosphatidylinositols and attenuating protein kinase C activity.',NULL,NULL,NULL,NULL,NULL),(2089,'UniProt Function',NULL,2694,NULL,'May play a role in neural crest cell migration into the third and fourth pharyngeal pouches.',NULL,NULL,NULL,NULL,NULL),(2090,'UniProt Function',NULL,2695,NULL,'Probable acyltransferase uses fatty acyl-CoA as substrate.',NULL,NULL,NULL,NULL,NULL),(2091,'UniProt Function',NULL,2696,NULL,'Catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. In contrast to DGAT2 it is not essential for survival. May be involved in VLDL (very low density lipoprotein) assembly. In liver, plays a role in esterifying exogenous fatty acids to glycerol. Functions as the major acyl-CoA retinol acyltransferase (ARAT) in the skin, where it acts to maintain retinoid homeostasis and prevent retinoid toxicity leading to skin and hair disorders.',NULL,NULL,NULL,NULL,NULL),(2092,'UniProt Function',NULL,2697,NULL,'Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA).',NULL,NULL,NULL,NULL,NULL),(2093,'UniProt Function',NULL,2698,NULL,'Displays a strong preference for 1,2-diacylglycerols over 1,3-diacylglycerols, but lacks substrate specificity among molecular species of long chain diacylglycerols. Isoform 2 but not isoform 1 regulates RASGRP1 activity (PubMed:11257115). Positively regulates insulin-induced translocation of SLC2A4 to the cell membrane in adipocytes (By similarity). Activates PIP5K1A activity via generation of phosphatidic acid (PubMed:15157668).',NULL,NULL,NULL,NULL,NULL),(2094,'UniProt Function',NULL,2699,NULL,'Catalyzes the hydrolysis of diacylglycerol (DAG) to 2-arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses.',NULL,NULL,NULL,NULL,NULL),(2095,'UniProt Function',NULL,2700,NULL,'Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids.',NULL,NULL,NULL,NULL,NULL),(2096,'UniProt Function',NULL,2701,NULL,'May be required for DNA interstrand cross-link repair. Also required for checkpoint mediated cell cycle arrest in early prophase in response to mitotic spindle poisons.',NULL,NULL,NULL,NULL,NULL),(2097,'UniProt Function',NULL,2702,NULL,'5\'-3\' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Participates in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair, thereby ensuring that telomeres do not fuse. Plays a key role in telomeric loop (T loop) formation by being recruited by TERF2 at the leading end telomeres and by processing leading-end telomeres immediately after their replication via its exonuclease activity: generates 3\' single-stranded overhang at the leading end telomeres avoiding blunt leading-end telomeres that are vulnerable to end-joining reactions and expose the telomere end in a manner that activates the DNA repair pathways. Together with TERF2, required to protect telomeres from replicative damage during replication by controlling the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Also involved in response to DNA damage: plays a role in response to DNA interstrand cross-links (ICLs) by facilitating double-strand break formation. In case of spindle stress, involved in prophase checkpoint.',NULL,NULL,NULL,NULL,NULL),(2098,'UniProt Function',NULL,2703,NULL,'Probable aspartic protease.',NULL,NULL,NULL,NULL,NULL),(2099,'UniProt Function',NULL,2704,NULL,'Defensin 2 and defensin 3 have antibiotic, fungicide and antiviral activities. Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane.',NULL,NULL,NULL,NULL,NULL),(2100,'UniProt Function',NULL,2705,NULL,'Removes the formyl group from the N-terminal Met of newly synthesized proteins.',NULL,NULL,NULL,NULL,NULL),(2101,'UniProt Function',NULL,2706,NULL,'Key structural component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells and can generate more than 100 centrioles. Probably sufficient for the specification and formation of the deuterosome inner core. Interacts with CEP152 and recruits PLK4 to activate centriole biogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(2102,'UniProt Function',NULL,2707,NULL,'May play a role in neural crest cell migration into the third and fourth pharyngeal pouches.',NULL,NULL,NULL,NULL,NULL),(2103,'UniProt Function',NULL,2708,NULL,'Intercellular signal essential for a variety of patterning events during development. May function as a spermatocyte survival factor in the testes. Essential for testes development.',NULL,NULL,NULL,NULL,NULL),(2104,'UniProt Function',NULL,2709,NULL,'With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) (PubMed:25066056, PubMed:28842490). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol (PubMed:21572394).',NULL,NULL,NULL,NULL,NULL),(2105,'UniProt Function',NULL,2710,NULL,'Has NAD-dependent 17-beta-hydroxysteroid dehydrogenase activity. Converts oestradiol to oestrone. The physiological substrate is not known. Acts on oestradiol and 5-androstene-3-beta,17-beta-diol (in vitro).',NULL,NULL,NULL,NULL,NULL),(2106,'UniProt Function',NULL,2711,NULL,'3-alpha-hydroxysteroid dehydrogenase that converts 3-alpha-tetrahydroprogesterone (allopregnanolone) to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone. May play a role in the biosynthesis of retinoic acid from retinaldehyde, but seems to have low activity with retinoids. Can utilize both NADH and NADPH.',NULL,NULL,NULL,NULL,NULL),(2107,'UniProt Function',NULL,2712,NULL,'ATP-binding RNA helicase involved in translation initiation. Part of the 43S pre-initiation complex that is required for efficient initiation on mRNAs of higher eukaryotes with structured 5\'-UTRs by promoting efficient NTPase-dependent 48S complex formation. Specifically binds to the 40S ribosome near the mRNA entrance. Does not possess a processive helicase activity.',NULL,NULL,NULL,NULL,NULL),(2108,'UniProt Function',NULL,2713,NULL,'Electrogenic metabolite transporter.',NULL,NULL,NULL,NULL,NULL),(2109,'UniProt Function',NULL,2714,NULL,'Putative transcription factor, weakly pro-apoptotic when overexpressed (By similarity). Tumor suppressor. Required for early embryonic stem cell development.',NULL,NULL,NULL,NULL,NULL),(2110,'UniProt Function',NULL,2714,NULL,'Isoform 2: Displaces isoform 4 at the onset of differentiation, required for repression of stemness genes.',NULL,NULL,NULL,NULL,NULL),(2111,'UniProt Function',NULL,2715,NULL,'Part of the postsynaptic scaffold in neuronal cells.',NULL,NULL,NULL,NULL,NULL),(2112,'UniProt Function',NULL,2716,NULL,'May act as a tumor suppressor by inhibiting cell proliferation.',NULL,NULL,NULL,NULL,NULL),(2113,'UniProt Function',NULL,2717,NULL,'Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules.',NULL,NULL,NULL,NULL,NULL),(2114,'UniProt Function',NULL,2718,NULL,'A scaffold protein that directs CASP3 to certain substrates and facilitates their ordered degradation during apoptosis. May also play a role in mediating CASP3 cleavage of KRT18. Regulates degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3. Inhibits DNA transcription in vitro (By similarity).',NULL,NULL,NULL,NULL,NULL),(2115,'UniProt Function',NULL,2719,NULL,'Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is important for its motility (PubMed:25122636).',NULL,NULL,NULL,NULL,NULL),(2116,'UniProt Function',NULL,2720,NULL,'Plays an essential role in splicing, either prior to, or during splicing A complex formation.',NULL,NULL,NULL,NULL,NULL),(2117,'UniProt Function',NULL,2721,NULL,'Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with activated RAC1. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(2118,'UniProt Function',NULL,2722,NULL,'Involved in chromatin organization.',NULL,NULL,NULL,NULL,NULL),(2119,'UniProt Function',NULL,2724,NULL,'Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity).',NULL,NULL,NULL,NULL,NULL),(2120,'UniProt Function',NULL,2725,NULL,'Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. Required for synthesis and storage of intracellular triglycerides (PubMed:27184406). Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides (By similarity). Functions also as an acyl-CoA retinol acyltransferase (ARAT).',NULL,NULL,NULL,NULL,NULL),(2121,'UniProt Function',NULL,2726,NULL,'Exhibits high phosphorylation activity for long-chain diacylglycerols.',NULL,NULL,NULL,NULL,NULL),(2122,'UniProt Function',NULL,2727,NULL,'May function as signaling molecule.',NULL,NULL,NULL,NULL,NULL),(2123,'UniProt Function',NULL,2727,NULL,'Isoform 2 may be involved in cell growth and tumorigenesis. Involved in clathrin-dependent endocytosis.',NULL,NULL,NULL,NULL,NULL),(2124,'UniProt Function',NULL,2728,NULL,'Highly selective for arachidonate-containing species of diacylglycerol (DAG). May terminate signals transmitted through arachidonoyl-DAG or may contribute to the synthesis of phospholipids with defined fatty acid composition.',NULL,NULL,NULL,NULL,NULL),(2125,'UniProt Function',NULL,2729,NULL,'Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs (PubMed:26027739, PubMed:26748718). The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding (PubMed:15531877, PubMed:15574589, PubMed:15589161, PubMed:16751099, PubMed:16906129, PubMed:16963499, PubMed:17159994). Specifically recognizes and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing (PubMed:25799998). Involved in the silencing of embryonic stem cell self-renewal (By similarity).',NULL,NULL,NULL,NULL,NULL),(2126,'UniProt Function',NULL,2730,NULL,'Catalyzes the reduction of the Delta-24 double bond of sterol intermediates. Protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(2127,'UniProt Function',NULL,2732,NULL,'Putative oxidoreductase.',NULL,NULL,NULL,NULL,NULL),(2128,'UniProt Function',NULL,2733,NULL,'GTPase which can activate the MEK/ERK pathway and induce cell transformation when overexpressed. May act as a nuclear scaffold for MAPK1, probably by association with MAPK1 nuclear export signal leading to enhanced ERK1/ERK2 signaling.',NULL,NULL,NULL,NULL,NULL),(2129,'UniProt Function',NULL,2734,NULL,'Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity).',NULL,NULL,NULL,NULL,NULL),(2130,'UniProt Function',NULL,2737,NULL,'Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7-ketocholesterol to 7-beta-hydroxycholesterol (By similarity).',NULL,NULL,NULL,NULL,NULL),(2131,'UniProt Function',NULL,2739,NULL,'Displays NADPH-dependent dicarbonyl reductase activity in vitro with 3,4-Hexanedione, 2,3-Heptanedione and 1-Phenyl-1,2-propanedione as substrates. No reductase activity is displayed in vitro with steroids, retinoids and sugars as substrates. Attenuates MDM2-mediated p53/TP53 degradation, leading to p53/TP53 stabilization and increased transcription activity, resulting in the accumulation of MDM2 and CDKN1A/p21.',NULL,NULL,NULL,NULL,NULL),(2132,'UniProt Function',NULL,2740,NULL,'The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).',NULL,NULL,NULL,NULL,NULL),(2133,'UniProt Function',NULL,2742,NULL,'Multifunctional ATP-dependent nucleic acid helicase that unwinds DNA and RNA in a 3\' to 5\' direction and that plays important roles in many processes, such as DNA replication, transcriptional activation, post-transcriptional RNA regulation, mRNA translation and RNA-mediated gene silencing (PubMed:9111062, PubMed:11416126, PubMed:12711669, PubMed:15355351, PubMed:16680162, PubMed:17531811, PubMed:20669935, PubMed:21561811, PubMed:24049074, PubMed:25062910, PubMed:24990949, PubMed:28221134). Requires a 3\'-single-stranded tail as entry site for acid nuclei unwinding activities as well as the binding and hydrolyzing of any of the four ribo- or deoxyribo-nucleotide triphosphates (NTPs) (PubMed:1537828). Unwinds numerous nucleic acid substrates such as double-stranded (ds) DNA and RNA, DNA:RNA hybrids, DNA and RNA forks composed of either partially complementary DNA duplexes or DNA:RNA hybrids, respectively, and also DNA and RNA displacement loops (D- and R-loops), triplex-helical DNA (H-DNA) structure and DNA and RNA-based G-quadruplexes (PubMed:20669935, PubMed:21561811, PubMed:24049074). Binds dsDNA, single-stranded DNA (ssDNA), dsRNA, ssRNA and poly(A)-containing RNA (PubMed:9111062, PubMed:10198287). Binds also to circular dsDNA or dsRNA of either linear and/or circular forms and stimulates the relaxation of supercoiled DNAs catalyzed by topoisomerase TOP2A (PubMed:12711669). Plays a role in DNA replication at origins of replication and cell cycle progression (PubMed:24990949). Plays a role as a transcriptional coactivator acting as a bridging factor between polymerase II holoenzyme and transcription factors or cofactors, such as BRCA1, CREBBP, RELA and SMN1 (PubMed:11149922, PubMed:9323138, PubMed:9662397, PubMed:11038348, PubMed:11416126, PubMed:15355351, PubMed:28221134). Binds to the CDKN2A promoter (PubMed:11038348). Plays several roles in post-transcriptional regulation of gene expression (PubMed:28221134, PubMed:28355180). In cooperation with NUP98, promotes pre-mRNA alternative splicing activities of a subset of genes (PubMed:11402034, PubMed:16680162, PubMed:28221134, PubMed:28355180). As component of a large PER complex, is involved in the negative regulation of 3\' transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms (By similarity). Acts also as a nuclear resolvase that is able to bind and neutralize harmful massive secondary double-stranded RNA structures formed by inverted-repeat Alu retrotransposon elements that are inserted and transcribed as parts of genes during the process of gene transposition (PubMed:28355180). Involved in the positive regulation of nuclear export of constitutive transport element (CTE)-containing unspliced mRNA (PubMed:9162007, PubMed:10924507, PubMed:11402034). Component of the coding region determinant (CRD)-mediated complex that promotes cytoplasmic MYC mRNA stability (PubMed:19029303). Plays a role in mRNA translation (PubMed:28355180). Positively regulates translation of selected mRNAs through its binding to post-transcriptional control element (PCE) in the 5\'-untranslated region (UTR) (PubMed:16680162). Involved with LARP6 in the translation stimulation of type I collagen mRNAs for CO1A1 and CO1A2 through binding of a specific stem-loop structure in their 5\'-UTRs (PubMed:22190748). Stimulates LIN28A-dependent mRNA translation probably by facilitating ribonucleoprotein remodeling during the process of translation (PubMed:21247876). Plays also a role as a small interfering (siRNA)-loading factor involved in the RNA-induced silencing complex (RISC) loading complex (RLC) assembly, and hence functions in the RISC-mediated gene silencing process (PubMed:17531811). Binds preferentially to short double-stranded RNA, such as those produced during rotavirus intestinal infection (PubMed:28636595). This interaction may mediate NLRP9 inflammasome activation and trigger inflammatory response, including IL18 release and pyroptosis (PubMed:28636595). Finally, mediates the attachment of heterogeneous nuclear ribonucleoproteins (hnRNPs) to actin filaments in the nucleus (PubMed:11687588).',NULL,NULL,NULL,NULL,NULL),(2134,'UniProt Function',NULL,2742,NULL,'(Microbial infection) Plays a role in HIV-1 replication and virion infectivity (PubMed:11096080, PubMed:19229320, PubMed:25149208, PubMed:27107641). Enhances HIV-1 transcription by facilitating the binding of RNA polymerase II holoenzyme to the proviral DNA (PubMed:11096080, PubMed:25149208). Binds (via DRBM domain 2) to the HIV-1 TAR RNA and stimulates HIV-1 transcription of transactivation response element (TAR)-containing mRNAs (PubMed:9892698, PubMed:11096080). Involved also in HIV-1 mRNA splicing and transport (PubMed:25149208). Positively regulates HIV-1 gag mRNA translation, through its binding to post-transcriptional control element (PCE) in the 5\'-untranslated region (UTR) (PubMed:16680162). Binds (via DRBM domains) to a HIV-1 double-stranded RNA region of the primer binding site (PBS)-segment of the 5\'-UTR, and hence stimulates DHX9 incorporation into virions and virion infectivity (PubMed:27107641). Plays also a role as a cytosolic viral MyD88-dependent DNA and RNA sensors in plasmacytoid dendritic cells (pDCs), and hence induce antiviral innate immune responses (PubMed:20696886, PubMed:21957149). Binds (via the OB-fold region) to viral single-stranded DNA unmethylated C-phosphate-G (CpG) oligonucleotide (PubMed:20696886).',NULL,NULL,NULL,NULL,NULL),(2135,'UniProt Function',NULL,2743,NULL,'May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA.',NULL,NULL,NULL,NULL,NULL),(2136,'UniProt Function',NULL,2744,NULL,'Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.',NULL,NULL,NULL,NULL,NULL),(2137,'UniProt Function',NULL,2745,NULL,'Potential cell cycle regulator that may play a role in carcinogenesis of cancer cells. Mitotic phosphoprotein regulated by the ubiquitin-proteasome pathway. Key regulator of adherens junction integrity and differentiation that may be involved in CDH1-mediated adhesion and signaling in epithelial cells.',NULL,NULL,NULL,NULL,NULL),(2138,'UniProt Function',NULL,2746,NULL,'May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity).',NULL,NULL,NULL,NULL,NULL),(2139,'UniProt Function',NULL,2747,NULL,'Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(2140,'UniProt Function',NULL,2748,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.',NULL,NULL,NULL,NULL,NULL),(2141,'UniProt Function',NULL,2749,NULL,'Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.',NULL,NULL,NULL,NULL,NULL),(2142,'UniProt Function',NULL,2750,NULL,'Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues.',NULL,NULL,NULL,NULL,NULL),(2143,'UniProt Function',NULL,2751,NULL,'Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.',NULL,NULL,NULL,NULL,NULL),(2144,'UniProt Function',NULL,2752,NULL,'DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals.',NULL,NULL,NULL,NULL,NULL),(2145,'UniProt Function',NULL,2754,NULL,'Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhibiting the transcriptional activation mediated by MATCH1. Functions as a ubiquitin ligase protein in vitro, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity.',NULL,NULL,NULL,NULL,NULL),(2146,'UniProt Function',NULL,2755,NULL,'Ubiquitin-like modifier involved in intra-Golgi traffic. Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation. It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 (By similarity). Involved in autophagy. Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation.',NULL,NULL,NULL,NULL,NULL),(2147,'UniProt Function',NULL,2756,NULL,'Inactivates MAPK1 and MAPK3 which leads to dephosphorylation of heat shock factor protein 4 and a reduction in its DNA-binding activity. Inhibits MAP kinase p38 by dephosphorylating it and inhibits p38-mediated apoptosis in anaplastic thyroid cancer cells. Can also induce activation of MAP kinase p38 and c-Jun N-terminal kinase (JNK).',NULL,NULL,NULL,NULL,NULL),(2148,'UniProt Function',NULL,2757,NULL,'May be required for myofiber maturation.',NULL,NULL,NULL,NULL,NULL),(2149,'UniProt Function',NULL,2758,NULL,'Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch, depending on the developmental and cell context (By similarity). Functions as an ubiquitin ligase protein in vitro, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity.',NULL,NULL,NULL,NULL,NULL),(2150,'UniProt Function',NULL,2759,NULL,'Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain.',NULL,NULL,NULL,NULL,NULL),(2151,'UniProt Function',NULL,2760,NULL,'Inactivates MAP kinases. Has a specificity for the ERK family.',NULL,NULL,NULL,NULL,NULL),(2152,'UniProt Function',NULL,2761,NULL,'Possesses RNA 5\'-triphosphatase and diphosphatase activities, but displays a poor protein-tyrosine phosphatase activity. In addition, has phosphatase activity with ATP, ADP and O-methylfluorescein phosphate (in vitro). Binds to RNA. May participate in nuclear mRNA metabolism.',NULL,NULL,NULL,NULL,NULL),(2153,'UniProt Function',NULL,2763,NULL,'Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis.',NULL,NULL,NULL,NULL,NULL),(2154,'UniProt Function',NULL,2764,NULL,'Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel.',NULL,NULL,NULL,NULL,NULL),(2155,'UniProt Function',NULL,2765,NULL,'Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.',NULL,NULL,NULL,NULL,NULL),(2156,'UniProt Function',NULL,2766,NULL,'DNA polymerase that functions in several pathways of DNA repair (PubMed:11457865, PubMed:19806195, PubMed:20693240). Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA (PubMed:11457865, PubMed:19806195). Also contributes to DNA double-strand break repair by non-homologous end joining and homologous recombination (PubMed:19806195, PubMed:20693240). Has both template-dependent and template-independent (terminal transferase) DNA polymerase activities (PubMed:10982892, PubMed:10887191, PubMed:12809503, PubMed:14627824, PubMed:15537631, PubMed:19806195). Has also a 5\'-deoxyribose-5-phosphate lyase (dRP lyase) activity (PubMed:11457865, PubMed:19806195).',NULL,NULL,NULL,NULL,NULL),(2157,'UniProt Function',NULL,2767,NULL,'Gap-filling polymerase involved in repair of DNA double-strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination.',NULL,NULL,NULL,NULL,NULL),(2158,'UniProt Function',NULL,2768,NULL,'Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons.',NULL,NULL,NULL,NULL,NULL),(2159,'UniProt Function',NULL,2769,NULL,'Glycosidase probably involved in the intestinal absorption and metabolism of dietary flavonoid glycosides. Able to hydrolyze a broad variety of glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens. Possesses beta-glycosylceramidase activity and may be involved in a nonlysosomal catabolic pathway of glycosylceramide.',NULL,NULL,NULL,NULL,NULL),(2160,'UniProt Function',NULL,2770,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(2161,'UniProt Function',NULL,2771,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(2162,'UniProt Function',NULL,2773,NULL,'Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues.',NULL,NULL,NULL,NULL,NULL),(2163,'UniProt Function',NULL,2774,NULL,'Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis.',NULL,NULL,NULL,NULL,NULL),(2164,'UniProt Function',NULL,2775,NULL,'Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.',NULL,NULL,NULL,NULL,NULL),(2165,'UniProt Function',NULL,2776,NULL,'GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.',NULL,NULL,NULL,NULL,NULL),(2166,'UniProt Function',NULL,2777,NULL,'Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing (PubMed:7972084, PubMed:7565688, PubMed:12618436). This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2) and serotonin (HTR2C) and GABA receptor (GABRA3). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alters their functional activities. Exhibits low-level editing at the GRIA2 Q/R site, but edits efficiently at the R/G site and HOTSPOT1. Its viral RNA substrates include: hepatitis C virus (HCV), vesicular stomatitis virus (VSV), measles virus (MV), hepatitis delta virus (HDV), and human immunodeficiency virus type 1 (HIV-1). Exhibits either a proviral (HDV, MV, VSV and HIV-1) or an antiviral effect (HCV) and this can be editing-dependent (HDV and HCV), editing-independent (VSV and MV) or both (HIV-1). Impairs HCV replication via RNA editing at multiple sites. Enhances the replication of MV, VSV and HIV-1 through an editing-independent mechanism via suppression of EIF2AK2/PKR activation and function. Stimulates both the release and infectivity of HIV-1 viral particles by an editing-dependent mechanism where it associates with viral RNAs and edits adenosines in the 5\'UTR and the Rev and Tat coding sequence. Can enhance viral replication of HDV via A-to-I editing at a site designated as amber/W, thereby changing an UAG amber stop codon to an UIG tryptophan (W) codon that permits synthesis of the large delta antigen (L-HDAg) which has a key role in the assembly of viral particles. However, high levels of ADAR1 inhibit HDV replication.',NULL,NULL,NULL,NULL,NULL),(2167,'UniProt Function',NULL,2778,NULL,'Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.',NULL,NULL,NULL,NULL,NULL),(2168,'UniProt Function',NULL,2779,NULL,'May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.',NULL,NULL,NULL,NULL,NULL),(2169,'UniProt Function',NULL,2784,NULL,'Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway.',NULL,NULL,NULL,NULL,NULL),(2170,'UniProt Function',NULL,2786,NULL,'Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification (PubMed:11788602, PubMed:12163485, PubMed:12446672, PubMed:17145758). Moreover, is involved in the metabolism of aggrecan (By similarity).',NULL,NULL,NULL,NULL,NULL),(2171,'UniProt Function',NULL,2789,NULL,'ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope during late anaphase (PubMed:26040712). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Plays a role in the endosomal sorting pathway (PubMed:16856878).',NULL,NULL,NULL,NULL,NULL),(2172,'UniProt Function',NULL,2790,NULL,'Drebrins might play some role in cell migration, extension of neuronal processes and plasticity of dendrites. Required for actin polymerization at immunological synapses (IS) and for CXCR4 recruitment to IS.',NULL,NULL,NULL,NULL,NULL),(2173,'UniProt Function',NULL,2791,NULL,'Critical regulator of cell growth under specific conditions. Implicated in differentiation and cell cycle arrest.',NULL,NULL,NULL,NULL,NULL),(2174,'UniProt Function',NULL,2792,NULL,'May play a role in cell proliferation, differentiation and death.',NULL,NULL,NULL,NULL,NULL),(2175,'UniProt Function',NULL,2793,NULL,'Transcription factor required for the formation of correct projections from nociceptive sensory neurons to the dorsal horn of the spinal cord and normal perception of pain.',NULL,NULL,NULL,NULL,NULL),(2176,'UniProt Function',NULL,2795,NULL,'Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells. Required for normal PRX location at appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Possibly involved in membrane-cytoskeleton interactions of the central nervous system.',NULL,NULL,NULL,NULL,NULL),(2177,'UniProt Function',NULL,2796,NULL,'Putative oxidoreductase.',NULL,NULL,NULL,NULL,NULL),(2178,'UniProt Function',NULL,2797,NULL,'Putative oxidoreductase.',NULL,NULL,NULL,NULL,NULL),(2179,'UniProt Function',NULL,2798,NULL,'Probable protein tyrosine phosphatase. Has phosphatase activity with synthetic substrates (PubMed:15252030, PubMed:29106959). Has a phosphatase activity-independent regulatory role in MAP3K5/ASK1-mediated apoptosis, preventing MAP3K5/ASK1 inhibition by AKT1. Shows no phosphatase activity on MAPK1/ERK2, MAPK8/JNK, MAPK14/p38 and MAP3K5/ASK1.',NULL,NULL,NULL,NULL,NULL),(2180,'UniProt Function',NULL,2799,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(2181,'UniProt Function',NULL,2800,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(2182,'UniProt Function',NULL,2801,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Plays a role in proper central nervous system (CNS) development in vertebrates.',NULL,NULL,NULL,NULL,NULL),(2183,'UniProt Function',NULL,2802,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(2184,'UniProt Function',NULL,2805,NULL,'Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation (PubMed:17719545 PubMed:17681131, PubMed:23486064). Also involved in promoting ciliogenesis. May play a role in the assembly of the mother centriole subdistal appendages (SDA) thereby effecting the fusion of recycling endosomes to basal bodies during cilia formation (By similarity). Required for correct spindle formation and has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CETN2 (PubMed:16760425).',NULL,NULL,NULL,NULL,NULL),(2185,'UniProt Function',NULL,2807,NULL,'Exhibits low testosterone 6-beta-hydroxylase activity.',NULL,NULL,NULL,NULL,NULL),(2186,'UniProt Function',NULL,2808,NULL,'The 83 kDa subunit binds and stabilizes the catalytic subunit at 37 degrees Celsius and keeps it in circulation. Under some circumstances it may be an allosteric modifier of the catalytic subunit.',NULL,NULL,NULL,NULL,NULL),(2187,'UniProt Function',NULL,2809,NULL,'Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery required for the maturation of extramitochondrial Fe-S proteins. Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis, facilitating the de novo assembly of a [4Fe-4S] cluster on the scaffold complex NUBP1-NUBP2. Electrons are transferred to CIAPIN1 from NADPH via the FAD- and FMN-containing protein NDOR1 (PubMed:23596212). NDOR1-CIAPIN1 are also required for the assembly of the diferric tyrosyl radical cofactor of ribonucleotide reductase (RNR), probably by providing electrons for reduction during radical cofactor maturation in the catalytic small subunit (By similarity). Has anti-apoptotic effects in the cell. Involved in negative control of cell death upon cytokine withdrawal. Promotes development of hematopoietic cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(2188,'UniProt Function',NULL,2811,NULL,'Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics (PubMed:25994031). This enzyme contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan (PubMed:25994031).',NULL,NULL,NULL,NULL,NULL),(2189,'UniProt Function',NULL,2812,NULL,'Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.',NULL,NULL,NULL,NULL,NULL),(2190,'UniProt Function',NULL,2813,NULL,'Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).',NULL,NULL,NULL,NULL,NULL),(2191,'UniProt Function',NULL,2815,NULL,'May be involved in cell-cell interactions. No carboxypeptidase activity was found yet (By similarity).',NULL,NULL,NULL,NULL,NULL),(2192,'UniProt Function',NULL,2816,NULL,'Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3\'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. CPSF4 binds RNA polymers with a preference for poly(U).',NULL,NULL,NULL,NULL,NULL),(2193,'UniProt Function',NULL,2817,NULL,'Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine.',NULL,NULL,NULL,NULL,NULL),(2194,'UniProt Function',NULL,2824,NULL,'Delivers copper to copper zinc superoxide dismutase (SOD1).',NULL,NULL,NULL,NULL,NULL),(2195,'UniProt Function',NULL,2826,NULL,'Appears to play multiple roles in cell cycle progression, cytokinesis and apoptosis. The p110 isoforms have been suggested to be involved in pre-mRNA splicing, potentially by phosphorylating the splicing protein SFRS7. The p58 isoform may act as a negative regulator of normal cell cycle progression.',NULL,NULL,NULL,NULL,NULL),(2196,'UniProt Function',NULL,2827,NULL,'Pathogen-recognition receptor expressed on the surface of immature dendritic cells (DCs) and involved in initiation of primary immune response. Thought to mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. The receptor returns to the cell membrane surface and the pathogen-derived antigens are presented to resting T-cells via MHC class II proteins to initiate the adaptive immune response.',NULL,NULL,NULL,NULL,NULL),(2197,'UniProt Function',NULL,2827,NULL,'On DCs it is a high affinity receptor for ICAM2 and ICAM3 by binding to mannose-like carbohydrates. May act as a DC rolling receptor that mediates transendothelial migration of DC presursors from blood to tissues by binding endothelial ICAM2. Seems to regulate DC-induced T-cell proliferation by binding to ICAM3 on T-cells in the immunological synapse formed between DC and T-cells.',NULL,NULL,NULL,NULL,NULL),(2198,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for HIV-1 and HIV-2.',NULL,NULL,NULL,NULL,NULL),(2199,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for Ebolavirus.',NULL,NULL,NULL,NULL,NULL),(2200,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for Cytomegalovirus.',NULL,NULL,NULL,NULL,NULL),(2201,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for HCV.',NULL,NULL,NULL,NULL,NULL),(2202,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for Dengue virus.',NULL,NULL,NULL,NULL,NULL),(2203,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for Measles virus.',NULL,NULL,NULL,NULL,NULL),(2204,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for Herpes simplex virus 1.',NULL,NULL,NULL,NULL,NULL),(2205,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for Influenzavirus A.',NULL,NULL,NULL,NULL,NULL),(2206,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for SARS coronavirus.',NULL,NULL,NULL,NULL,NULL),(2207,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for Japanese encephalitis virus.',NULL,NULL,NULL,NULL,NULL),(2208,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for Lassa virus (PubMed:23966408). Acts as an attachment receptor for Marburg virusn.',NULL,NULL,NULL,NULL,NULL),(2209,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for Respiratory syncytial virus.',NULL,NULL,NULL,NULL,NULL),(2210,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for Rift valley fever virus and uukuniemi virus.',NULL,NULL,NULL,NULL,NULL),(2211,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Acts as an attachment receptor for West-nile virus.',NULL,NULL,NULL,NULL,NULL),(2212,'UniProt Function',NULL,2827,NULL,'(Microbial infection) Probably recognizes in a calcium-dependent manner high mannose N-linked oligosaccharides in a variety of bacterial pathogen antigens, including Leishmania pifanoi LPG, Lewis-x antigen in Helicobacter pylori LPS, mannose in Klebsiella pneumonae LPS, di-mannose and tri-mannose in Mycobacterium tuberculosis ManLAM and Lewis-x antigen in Schistosoma mansoni SEA (PubMed:16379498). Recognition of M.tuberculosis by dendritic cells occurs partially via this molecule (PubMed:16092920, PubMed:21203928).',NULL,NULL,NULL,NULL,NULL),(2213,'UniProt Function',NULL,2828,NULL,'Cell adhesion molecule that mediates both heterotypic cell-cell contacts via its interaction with CD6, as well as homotypic cell-cell contacts (PubMed:7760007, PubMed:15496415, PubMed:15048703, PubMed:16352806, PubMed:23169771, PubMed:24945728). Promotes T-cell activation and proliferation via its interactions with CD6 (PubMed:15048703, PubMed:16352806, PubMed:24945728). Contributes to the formation and maturation of the immunological synapse via its interactions with CD6 (PubMed:15294938, PubMed:16352806). Mediates homotypic interactions with cells that express ALCAM (PubMed:15496415, PubMed:16352806). Required for normal hematopoietic stem cell engraftment in the bone marrow (PubMed:24740813). Mediates attachment of dendritic cells onto endothelial cells via homotypic interaction (PubMed:23169771). Inhibits endothelial cell migration and promotes endothelial tube formation via homotypic interactions (PubMed:15496415, PubMed:23169771). Required for normal organization of the lymph vessel network. Required for normal hematopoietic stem cell engraftment in the bone marrow. Plays a role in hematopoiesis; required for normal numbers of hematopoietic stem cells in bone marrow. Promotes in vitro osteoblast proliferation and differentiation (By similarity). Promotes neurite extension, axon growth and axon guidance; axons grow preferentially on surfaces that contain ALCAM. Mediates outgrowth and pathfinding for retinal ganglion cell axons (By similarity).',NULL,NULL,NULL,NULL,NULL),(2214,'UniProt Function',NULL,2828,NULL,'Isoform 3: Inhibits activities of membrane-bound isoforms by competing for the same interaction partners. Inhibits cell attachment via homotypic interactions. Promotes endothelial cell migration. Inhibits endothelial cell tube formation.',NULL,NULL,NULL,NULL,NULL),(2215,'UniProt Function',NULL,2829,NULL,'May act as a receptor in regulating T-cell proliferation.',NULL,NULL,NULL,NULL,NULL),(2216,'UniProt Function',NULL,2830,NULL,'This protein may be involved in the regulation of B-cell activation and proliferation.',NULL,NULL,NULL,NULL,NULL),(2217,'UniProt Function',NULL,2831,NULL,'May cooperate with MD-1 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) in B-cells. Leads to NF-kappa-B activation. Also involved in the life/death decision of B-cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(2218,'UniProt Function',NULL,2832,NULL,'Assembles with the antigen receptor of B-lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation.',NULL,NULL,NULL,NULL,NULL),(2219,'UniProt Function',NULL,2833,NULL,'Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK. Also interacts with and increases activity of some Src-family tyrosine kinases. Represses BCR signaling during development of immature B-cells.',NULL,NULL,NULL,NULL,NULL),(2220,'UniProt Function',NULL,2834,NULL,'May have a pivotal role in cell differentiation of different cell types. Signaling could be triggered by the binding of a lectin-like ligand to the CD24 carbohydrates, and transduced by the release of second messengers derived from the GPI-anchor. Modulates B-cell activation responses. Promotes AG-dependent proliferation of B-cells, and prevents their terminal differentiation into antibody-forming cells (PubMed:11313396). In association with SIGLEC10 may be involved in the selective suppression of the immune response to danger-associated molecular patterns (DAMPs) such as HMGB1, HSP70 and HSP90. Plays a role in the control of autoimmunity (By similarity).',NULL,NULL,NULL,NULL,NULL),(2221,'UniProt Function',NULL,2835,NULL,'Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.',NULL,NULL,NULL,NULL,NULL),(2222,'UniProt Function',NULL,2836,NULL,'Co-chaperone that binds to numerous proteins and promotes their interaction with Hsp70 and Hsp90.',NULL,NULL,NULL,NULL,NULL),(2223,'UniProt Function',NULL,2837,NULL,'Plays a role in transcriptional regulation as a repressor that inhibits monoamine oxidase A (MAOA) activity and gene expression by binding to the promoter. Plays an important oncogenic role in mediating the full transforming effect of MYC in medulloblastoma cells. Involved in apoptotic signaling pathways; May act downstream of P38-kinase and BCL-2, but upstream of CASP3/caspase-3 as well as CCND1/cyclin D1 and E2F1.',NULL,NULL,NULL,NULL,NULL),(2224,'UniProt Function',NULL,2838,NULL,'Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesis. May play a role as transcriptional regulator.',NULL,NULL,NULL,NULL,NULL),(2225,'UniProt Function',NULL,2839,NULL,'May play a role in terminally differentiated neurons. Has a Ser/Thr-phosphorylating activity for histone H1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(2226,'UniProt Function',NULL,2841,NULL,'Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life.',NULL,NULL,NULL,NULL,NULL),(2227,'UniProt Function',NULL,2842,NULL,'Cell surface glycoprotein that plays a role in cell adhesion, intracellular signaling and tumor progression (PubMed:2803308, PubMed:10910050, PubMed:10864933). Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM6 (PubMed:2803308). Plays a role as an oncogene by promoting tumor progression; induces resistance to anoikis of colorectal carcinoma cells (PubMed:10910050).',NULL,NULL,NULL,NULL,NULL),(2228,'UniProt Function',NULL,2842,NULL,'(Microbial infection) Receptor for E.coli Dr adhesins. Binding of E.coli Dr adhesins leads to dissociation of the homodimer.',NULL,NULL,NULL,NULL,NULL),(2229,'UniProt Function',NULL,2843,NULL,'Cell surface glycoprotein that plays a role in cell adhesion and tumor progression (PubMed:2803308, PubMed:2022629, PubMed:1378450, PubMed:8776764, PubMed:11590190, PubMed:10910050, PubMed:14724575, PubMed:16204051). Intercellular adhesion occurs in a calcium- and fibronectin-independent manner (PubMed:2022629, PubMed:16204051). Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM5 and CEACAM8 (PubMed:2803308, PubMed:2022629, PubMed:8776764, PubMed:11590190, PubMed:16204051). Heterophilic interaction with CEACAM8 occurs in activated neutrophils (PubMed:8776764). Plays a role in neutrophil adhesion to cytokine-activated endothelial cells (PubMed:1378450). Plays a role as an oncogene by promoting tumor progression; positively regulates cell migration, cell adhesion to endothelial cells and cell invasion (PubMed:16204051). Also involved in the metastatic cascade process by inducing gain resistance to anoikis of pancreatic adenocarcinoma and colorectal carcinoma cells (PubMed:10910050, PubMed:14724575).',NULL,NULL,NULL,NULL,NULL),(2230,'UniProt Function',NULL,2844,NULL,'Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CENPJ (PubMed:19052644). Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network (PubMed:16314388, PubMed:17878239, PubMed:28659385). Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity (PubMed:15615782). Required for ciliation (PubMed:28659385).',NULL,NULL,NULL,NULL,NULL),(2231,'UniProt Function',NULL,2845,NULL,'Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex (PubMed:16622420). Plays an important role in chromosome congression and in the recruitment of CENP-O complex (which comprises CENPO, CENPP, CENPQ and CENPU), CENPE and PLK1 to the kinetochores (PubMed:25395579).',NULL,NULL,NULL,NULL,NULL),(2232,'UniProt Function',NULL,2846,NULL,'Required for kinetochore function and chromosome segregation in mitosis. Required for kinetochore localization of dynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasma membrane by acting as a link between recycling vesicles and the microtubule network though its association with STX4 and SNAP25. Acts as a potential inhibitor of pocket protein-mediated cellular processes during development by regulating the activity of RB proteins during cell division and proliferation. May play a regulatory or permissive role in the normal embryonic cardiomyocyte cell cycle and in promoting continued mitosis in transformed, abnormally dividing neonatal cardiomyocytes. Interaction with RB directs embryonic stem cells toward a cardiac lineage. Involved in the regulation of DNA synthesis and hence cell cycle progression, via its C-terminus. Has a potential role regulating skeletal myogenesis and in cell differentiation in embryogenesis. Involved in dendritic cell regulation of T-cell immunity against chlamydia.',NULL,NULL,NULL,NULL,NULL),(2233,'UniProt Function',NULL,2847,NULL,'RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Promotes inclusion of exonS 21 and exclusion of exon 5 of the NMDA receptor R1 pre-mRNA. Involved in the apoB RNA editing activity. Increases COX2 mRNA stability and inhibits COX2 mRNA translation in epithelial cells after radiation injury (By similarity). Modulates the cellular apoptosis program by regulating COX2-mediated prostaglandin E2 (PGE2) expression (By similarity). Binds to (CUG)n triplet repeats in the 3\'-UTR of transcripts such as DMPK. Binds to the muscle-specific splicing enhancer (MSE) intronic sites flanking the TNNT2 alternative exon 5. Binds preferentially to UG-rich sequences, in particular UG repeat and UGUU motifs. Binds to apoB mRNA, specifically to AU-rich sequences located immediatly upstream of the edited cytidine. Binds AU-rich sequences in the 3\'-UTR of COX2 mRNA (By similarity). Binds to an intronic RNA element responsible for the silencing of exon 21 splicing (By similarity). Binds to (CUG)n repeats (By similarity). May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF1, negatively regulates the processing to mature miRNA (PubMed:28431233).',NULL,NULL,NULL,NULL,NULL),(2234,'UniProt Function',NULL,2848,NULL,'Involved in the recruitment of key centrosomal proteins to the centrosome. Provides centrosomal microtubule-nucleation activity on the gamma-tubulin ring complexes (gamma-TuRCs) and has critical roles in forming a focused bipolar spindle, which is needed for proper tension generation between sister chromatids. Required for localization of KIZ, AKAP9 and gamma-tubulin ring complexes (gamma-TuRCs) (PubMed:19536135). Involved in centriole duplication. Required for CDK5RAP22, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806).',NULL,NULL,NULL,NULL,NULL),(2235,'UniProt Function',NULL,2849,NULL,'Has (dihydro)ceramide synthesis activity with relatively broad substrate specificity, but a preference for C18:0 and other middle- to long-chain fatty acyl-CoAs (By similarity). It is crucial for the synthesis of very long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation.',NULL,NULL,NULL,NULL,NULL),(2236,'UniProt Function',NULL,2850,NULL,'Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPN is the first protein to bind specifically to CENPA nucleosomes and the direct binding of CENPA nucleosomes by CENPN is required for centromere assembly. Required for chromosome congression and efficiently align the chromosomes on a metaphase plate.',NULL,NULL,NULL,NULL,NULL),(2237,'UniProt Function',NULL,2851,NULL,'Catalyzes both phosphatidylcholine and phosphatidylethanolamine biosynthesis from CDP-choline and CDP-ethanolamine, respectively. Involved in protein-dependent process of phospholipid transport to distribute phosphatidyl choline to the lumenal surface. Has a higher cholinephosphotransferase activity than ethanolaminephosphotransferase activity.',NULL,NULL,NULL,NULL,NULL),(2238,'UniProt Function',NULL,2852,NULL,'May regulate cilium motility through its role in the assembly of the axonemal radial spokes.',NULL,NULL,NULL,NULL,NULL),(2239,'UniProt Function',NULL,2853,NULL,'Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium.',NULL,NULL,NULL,NULL,NULL),(2240,'UniProt Function',NULL,2854,NULL,'May play a role during embryogenesis.',NULL,NULL,NULL,NULL,NULL),(2241,'UniProt Function',NULL,2857,NULL,'May regulate cilium motility through its role in the assembly of the axonemal radial spokes.',NULL,NULL,NULL,NULL,NULL),(2242,'UniProt Function',NULL,2860,NULL,'NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation.',NULL,NULL,NULL,NULL,NULL),(2243,'UniProt Function',NULL,2862,NULL,'May act as an effector for ARL3.',NULL,NULL,NULL,NULL,NULL),(2244,'UniProt Function',NULL,2865,NULL,'Catalyzes the cleavage of glutathione into 5-oxo-L-proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides.',NULL,NULL,NULL,NULL,NULL),(2245,'UniProt Function',NULL,2866,NULL,'Potential negative modulator of chondrocyte differentiation. Inhibits collagen fibrillogenesis in vitro. May influence chondrocyte\'s differentiation by acting on its cellular collagenous microenvironment.',NULL,NULL,NULL,NULL,NULL),(2246,'UniProt Function',NULL,2869,NULL,'Catalyzes the cleavage of glutathione into 5-oxo-L-proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides (PubMed:27913623). Glutathione depletion is an important factor for apoptosis initiation and execution. Acts as a pro-apoptotic component of the unfolded protein response pathway by mediating the pro-apoptotic effects of the ATF4-ATF3-DDIT3/CHOP cascade (PubMed:19109178). Negative regulator of Notch signaling pathway involved in embryonic neurogenesis: acts by inhibiting Notch cleavage by furin, maintaining Notch in an immature inactive form, thereby promoting neurogenesis in embryos (PubMed:22445366).',NULL,NULL,NULL,NULL,NULL),(2247,'UniProt Function',NULL,2870,NULL,'Plays a role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA (preferred substrate).',NULL,NULL,NULL,NULL,NULL),(2248,'UniProt Function',NULL,2871,NULL,'Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Exhibits calcium-dependent cell membrane binding properties.',NULL,NULL,NULL,NULL,NULL),(2249,'UniProt Function',NULL,2872,NULL,'Stress-induced phosphorylation of CAPZIP may regulate the ability of F-actin-capping protein to remodel actin filament assembly.',NULL,NULL,NULL,NULL,NULL),(2250,'UniProt Function',NULL,2875,NULL,'Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. This small subunit may act as a tissue-specific chaperone of the large subunit, possibly by helping it fold into its correct conformation for activity.',NULL,NULL,NULL,NULL,NULL),(2251,'UniProt Function',NULL,2876,NULL,'Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate, myristate and palmitate. Has little activity toward prostaglandins A1 and E1. Oxidizes arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE).',NULL,NULL,NULL,NULL,NULL),(2252,'UniProt Function',NULL,2877,NULL,'Crystallins are the dominant structural components of the vertebrate eye lens.',NULL,NULL,NULL,NULL,NULL),(2253,'UniProt Function',NULL,2878,NULL,'Transcription factor that may act during endoplasmic reticulum stress by activating unfolded protein response target genes. Activated in response to cAMP stimulation. In vitro, binds to the cAMP response element (CRE) and box-B element. Activates transcription through box-B element. Activates transcription through CRE (By similarity). Seems to function synergistically with ATF6. In acute inflammatory response, may activate expression of acute phase response (APR) genes. May be involved in growth suppression.',NULL,NULL,NULL,NULL,NULL),(2254,'UniProt Function',NULL,2879,NULL,'Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions. Following muscle denervation, promotes nerve terminal sprouting and the formation of additional acetylcholine receptor clusters at synaptic sites without affecting terminal Schwann cell number or morphology. Delays the retraction of terminal sprouts following re-innervation of denervated endplates. May play a role in targeting the monocarboxylate transporters SLC16A1 and SLC16A7 to the cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(2255,'UniProt Function',NULL,2882,NULL,'Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots \'circa\' (about) and \'diem\' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for \'timegivers\'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5\'-CACGTG-3\') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. CRY1 and CRY2 have redundant functions but also differential and selective contributions at least in defining the pace of the SCN circadian clock and its circadian transcriptional outputs. More potent transcriptional repressor in cerebellum and liver than CRY2, though more effective in lengthening the period of the SCN oscillator. On its side, CRY2 seems to play a critical role in tuning SCN circadian period by opposing the action of CRY1. With CRY2, is dispensable for circadian rhythm generation but necessary for the development of intercellular networks for rhythm synchrony. Capable of translocating circadian clock core proteins such as PER proteins to the nucleus. Interacts with CLOCK-ARNTL/BMAL1 independently of PER proteins and is found at CLOCK-ARNTL/BMAL1-bound sites, suggesting that CRY may act as a molecular gatekeeper to maintain CLOCK-ARNTL/BMAL1 in a poised and repressed state until the proper time for transcriptional activation. Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1. Represses the CLOCK-ARNTL/BMAL1 induced transcription of ATF4, MTA1, KLF10 and NAMPT (By similarity). May repress circadian target genes expression in collaboration with HDAC1 and HDAC2 through histone deacetylation. Mediates the clock-control activation of ATR and modulates ATR-mediated DNA damage checkpoint. In liver, mediates circadian regulation of cAMP signaling and gluconeogenesis by binding to membrane-coupled G proteins and blocking glucagon-mediated increases in intracellular cAMP concentrations and CREB1 phosphorylation. Inhibits hepatic gluconeogenesis by decreasing nuclear FOXO1 levels that downregulates gluconeogenic gene expression (By similarity). Besides its role in the maintenance of the circadian clock, is also involved in the regulation of other processes. Represses glucocorticoid receptor NR3C1/GR-induced transcriptional activity by binding to glucocorticoid response elements (GREs). Plays a key role in glucose and lipid metabolism modulation, in part, through the transcriptional regulation of genes involved in these pathways, such as LEP or ACSL4.',NULL,NULL,NULL,NULL,NULL),(2256,'UniProt Function',NULL,2884,NULL,'Crystallins are the dominant structural components of the vertebrate eye lens.',NULL,NULL,NULL,NULL,NULL),(2257,'UniProt Function',NULL,2885,NULL,'Acts as an osmosensitive calcium-permeable cation channel.',NULL,NULL,NULL,NULL,NULL),(2258,'UniProt Function',NULL,2886,NULL,'Acts as an osmosensitive calcium-permeable cation channel.',NULL,NULL,NULL,NULL,NULL),(2259,'UniProt Function',NULL,2887,NULL,'Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization.',NULL,NULL,NULL,NULL,NULL),(2260,'UniProt Function',NULL,2889,NULL,'Interacts with MUS81 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5\'-end at the branch nick. Typical substrates include 3\'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks.',NULL,NULL,NULL,NULL,NULL),(2261,'UniProt Function',NULL,2890,NULL,'Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages. This CSF induces granulocytes.',NULL,NULL,NULL,NULL,NULL),(2262,'UniProt Function',NULL,2891,NULL,'Potential suppressor of squamous cell carcinomas.',NULL,NULL,NULL,NULL,NULL),(2263,'UniProt Function',NULL,2892,NULL,'Probably involved in cell proliferation and cell-cell interactions.',NULL,NULL,NULL,NULL,NULL),(2264,'UniProt Function',NULL,2893,NULL,'Involved in dendrite development.',NULL,NULL,NULL,NULL,NULL),(2265,'UniProt Function',NULL,2897,NULL,'Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. Also involved in the deneddylation of non-cullin subunits such as STON2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1, IRF8/ICSBP and SNAPIN, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively.',NULL,NULL,NULL,NULL,NULL),(2266,'UniProt Function',NULL,2898,NULL,'Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system.',NULL,NULL,NULL,NULL,NULL),(2267,'UniProt Function',NULL,2899,NULL,'Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system.',NULL,NULL,NULL,NULL,NULL),(2268,'UniProt Function',NULL,2900,NULL,'Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties.',NULL,NULL,NULL,NULL,NULL),(2269,'UniProt Function',NULL,2900,NULL,'SU mediates receptor recognition.',NULL,NULL,NULL,NULL,NULL),(2270,'UniProt Function',NULL,2900,NULL,'TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(2271,'UniProt Function',NULL,2901,NULL,'Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation.',NULL,NULL,NULL,NULL,NULL),(2272,'UniProt Function',NULL,2902,NULL,'May function as a growth and differentiation factor involved in neuritogenesis. May induce ERBB3 activation.',NULL,NULL,NULL,NULL,NULL),(2273,'UniProt Function',NULL,2903,NULL,'Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833332).',NULL,NULL,NULL,NULL,NULL),(2274,'UniProt Function',NULL,2904,NULL,'Plays a critical role in radial migration and centrosomal function.',NULL,NULL,NULL,NULL,NULL),(2275,'UniProt Function',NULL,2906,NULL,'Inhibits the Wnt/Wingless pathway by binding to CTNNB1/beta-catenin and inhibiting beta-catenin-mediated transcriptional activation through competition with TCF/LEF transcription factors. Has also been shown to play a role in regulating the intracellular trafficking of polycystin-2/PKD2 and possibly of other intracellular proteins. Promotes adipocyte and cardiomyocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(2276,'UniProt Function',NULL,2911,NULL,'Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695).',NULL,NULL,NULL,NULL,NULL),(2277,'UniProt Function',NULL,2917,NULL,'May negatively regulate cell cycle progression. May act at least in part via inhibition of the cyclin-D1/CDK4 complex, thereby preventing phosphorylation of RB1 and blocking E2F-dependent transcription.',NULL,NULL,NULL,NULL,NULL),(2278,'UniProt Function',NULL,2918,NULL,'Monokine with inflammatory and chemokinetic properties. Binds to CCR1, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant MIP-1-alpha induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV).',NULL,NULL,NULL,NULL,NULL),(2279,'UniProt Function',NULL,2919,NULL,'Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (PubMed:21127204). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs), including GRIA1 and GRIA4. Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization (PubMed:21172611).',NULL,NULL,NULL,NULL,NULL),(2280,'UniProt Function',NULL,2921,NULL,'May play an important role in innate immunity by mediating a signal for the production of a neutrophil chemoattractant.',NULL,NULL,NULL,NULL,NULL),(2281,'UniProt Function',NULL,2924,NULL,'Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition of this role of signal transduction in T-cell activation, CD3D plays an essential role in thymocyte differentiation. Indeed, participates in correct intracellular TCR-CD3 complex assembly and surface expression. In absence of a functional TCR-CD3 complex, thymocytes are unable to differentiate properly. Interacts with CD4 and CD8 and thus serves to establish a functional link between the TCR and coreceptors CD4 and CD8, which is needed for activation and positive selection of CD4 or CD8 T-cells(PubMed:12215456).',NULL,NULL,NULL,NULL,NULL),(2282,'UniProt Function',NULL,2925,NULL,'Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton (PubMed:10339567). In collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of RET degradation (By similarity). May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell (By similarity). May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis (PubMed:15800069). Plays a role in epithelial cell junctions formation (PubMed:22891260).',NULL,NULL,NULL,NULL,NULL),(2283,'UniProt Function',NULL,2926,NULL,'Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition of this role of signal transduction in T-cell activation, CD3E plays an essential role in correct T-cell development. Initiates the TCR-CD3 complex assembly by forming the two heterodimers CD3D/CD3E and CD3G/CD3E. Participates also in internalization and cell surface down-regulation of TCR-CD3 complexes via endocytosis sequences present in CD3E cytosolic region (PubMed:10384095, PubMed:26507128).',NULL,NULL,NULL,NULL,NULL),(2284,'UniProt Function',NULL,2927,NULL,'CD2 interacts with lymphocyte function-associated antigen CD58 (LFA-3) and CD48/BCM1 to mediate adhesion between T-cells and other cell types. CD2 is implicated in the triggering of T-cells, the cytoplasmic domain is implicated in the signaling function.',NULL,NULL,NULL,NULL,NULL),(2285,'UniProt Function',NULL,2928,NULL,'Functions as cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal trafficking of the PMEL luminal domain that is essential for the development and maturation of melanocytes. Plays a role in the adhesion of leukocytes onto endothelial cells via its role in the regulation of SELP trafficking. May play a role in mast cell degranulation in response to Ms4a2/FceRI stimulation, but not in mast cell degranulation in response to other stimuli.',NULL,NULL,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (2286,'UniProt Function',NULL,2929,NULL,'Identifies cytotoxic/suppressor T-cells that interact with MHC class I bearing targets. CD8 is thought to play a role in the process of T-cell mediated killing (By similarity).',NULL,NULL,NULL,NULL,NULL),(2287,'UniProt Function',NULL,2930,NULL,'Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class I molecule:peptide complex. The antigens presented by class I peptides are derived from cytosolic proteins while class II derived from extracellular proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class I proteins presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. A palmitoylation site in the cytoplasmic tail of CD8B chain contributes to partitioning of CD8 into the plasma membrane lipid rafts where signaling proteins are enriched. Once LCK recruited, it initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of cytotoxic T-lymphocytes (CTLs). Additionally, plays a critical role in thymic selection of CD8+ T-cells.',NULL,NULL,NULL,NULL,NULL),(2288,'UniProt Function',NULL,2931,NULL,'Could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. Binds to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. Rapid recirculation of CD68 from endosomes and lysosomes to the plasma membrane may allow macrophages to crawl over selectin-bearing substrates or other cells.',NULL,NULL,NULL,NULL,NULL),(2289,'UniProt Function',NULL,2932,NULL,'Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells.',NULL,NULL,NULL,NULL,NULL),(2290,'UniProt Function',NULL,2933,NULL,'Possible adhesion molecule with a role in early hematopoiesis by mediating the attachment of stem cells to the bone marrow extracellular matrix or directly to stromal cells. Could act as a scaffold for the attachment of lineage specific glycans, allowing stem cells to bind to lectins expressed by stromal cells or other marrow components. Presents carbohydrate ligands to selectins.',NULL,NULL,NULL,NULL,NULL),(2291,'UniProt Function',NULL,2934,NULL,'Heterophilic receptor of the signaling lymphocytic activation molecule (SLAM) family; its ligand is CD48. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Acts as activating natural killer (NK) cell receptor (PubMed:10359122, PubMed:8376943, PubMed:11714776). Activating function implicates association with SH2D1A and FYN (PubMed:15713798). Downstreaming signaling involves predominantly VAV1, and, to a lesser degree, INPP5D/SHIP1 and CBL. Signal attenuation in the absence of SH2D1A is proposed to be dependent on INPP5D and to a lesser extent PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10934222, PubMed:15713798). Stimulates NK cell cytotoxicity, production of IFN-gamma and granule exocytosis (PubMed:8376943, PubMed:11714776). Optimal expansion and activation of NK cells seems to be dependent on the engagement of CD244 with CD48 expressed on neighboring NK cells (By similarity). Acts as costimulator in NK activation by enhancing signals by other NK receptors such as NCR3 and NCR1 (PubMed:10741393). At early stages of NK cell differentiation may function as an inhibitory receptor possibly ensuring the self-tolerance of developing NK cells (PubMed:11917118). Involved in the regulation of CD8(+) T-cell proliferation; expression on activated T-cells and binding to CD488 provides costimulatory-like function for neighboring T-cells (By similarity). Inhibits inflammatory responses in dendritic cells (DCs) (By similarity).',NULL,NULL,NULL,NULL,NULL),(2292,'UniProt Function',NULL,2935,NULL,'Involved in the costimulatory signal essential for T-lymphocyte activation. T-cell proliferation and cytokine production is induced by the binding of CD28, binding to CTLA-4 has opposite effects and inhibits T-cell activation.',NULL,NULL,NULL,NULL,NULL),(2293,'UniProt Function',NULL,2935,NULL,'(Microbial infection) Acts as a receptor for adenovirus subgroup B.',NULL,NULL,NULL,NULL,NULL),(2294,'UniProt Function',NULL,2936,NULL,'Regulator of chromosome structure during mitosis required for condensin-depleted chromosomes to retain their compact architecture through anaphase. Acts by mediating the recruitment of phopsphatase PP1-gamma subunit (PPP1CC) to chromatin at anaphase and into the following interphase. At anaphase onset, its association with chromatin targets a pool of PPP1CC to dephosphorylate substrates.',NULL,NULL,NULL,NULL,NULL),(2295,'UniProt Function',NULL,2937,NULL,'Receptor for CD70/CD27L. May play a role in survival of activated T-cells. May play a role in apoptosis through association with SIVA1.',NULL,NULL,NULL,NULL,NULL),(2296,'UniProt Function',NULL,2938,NULL,'Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(2297,'UniProt Function',NULL,2939,NULL,'May be involved in cell adhesion and cell matrix association. May play a role in the regulation of anchorage versus migration or proliferation versus differentiation via its phosphorylation. May be a novel marker for leukemia diagnosis and for immature hematopoietic stem cell subsets. Belongs to the tetraspanin web involved in tumor progression and metastasis.',NULL,NULL,NULL,NULL,NULL),(2298,'UniProt Function',NULL,2940,NULL,'Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR2 on adjacent microvilli. Thereby, controls the packing of microvilli at the apical membrane of epithelial cells. Through its cytoplasmic domain, interacts with microvillus cytoplasmic proteins to form the intermicrovillar adhesion complex/IMAC. This complex plays a central role in microvilli and epithelial brush border differentiation.',NULL,NULL,NULL,NULL,NULL),(2299,'UniProt Function',NULL,2941,NULL,'Required for high-level Shh responses in the developing neural tube. Together with TBC1D32, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to SHH signaling (By similarity). Involved in cell growth. Activates CDK2, a kinase involved in the control of the cell cycle, by phosphorylating residue \'Thr-160\'.',NULL,NULL,NULL,NULL,NULL),(2300,'UniProt Function',NULL,2942,NULL,'Trophic factor for dopamine neurons. Prevents the 6-hydroxydopamine (6-OHDA)-induced degeneration of dopaminergic neurons. When administered after 6-OHDA-lesioning, restores the dopaminergic function and prevents the degeneration of dopaminergic neurons in substantia nigra (By similarity).',NULL,NULL,NULL,NULL,NULL),(2301,'UniProt Function',NULL,2943,NULL,'Important regulator of cell cycle progression. Inhibits the kinase activity of CDK2 bound to cyclin A, but has little inhibitory activity on CDK2 bound to SPDYA (PubMed:28666995). Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A-CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexes and is involved in the assembly, stability, and modulation of CCND1-CDK4 complex activation. Acts either as an inhibitor or an activator of cyclin type D-CDK4 complexes depending on its phosphorylation state and/or stoichometry.',NULL,NULL,NULL,NULL,NULL),(2302,'UniProt Function',NULL,2945,NULL,'Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest.',NULL,NULL,NULL,NULL,NULL),(2303,'UniProt Function',NULL,2946,NULL,'Transcriptional activator (PubMed:26019275). C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Required for the promyelocyte-myelocyte transition in myeloid differentiation (PubMed:10359588).',NULL,NULL,NULL,NULL,NULL),(2304,'UniProt Function',NULL,2949,NULL,'Cell surface hyaluronidase that mediates the initial cleavage of extracellular high-molecular-weight hyaluronan into intermediate-size hyaluronan of approximately 5 kDa fragments (PubMed:28246172). Acts as a regulator of angiogenesis and heart morphogenesis by mediating degradation of extracellular hyaluronan, thereby regulating VEGF signaling (By similarity). Is very specific to hyaluronan; not able to cleave chondroitin sulfate or dermatan sulfate (PubMed:28246172).',NULL,NULL,NULL,NULL,NULL),(2305,'UniProt Function',NULL,2950,NULL,'Acts as a negative regulator of NEK2 to maintain the centrosome integrity in interphase. Suppresses centrosome disjunction by inhibiting NEK2 kinase activity (PubMed:26220856).',NULL,NULL,NULL,NULL,NULL),(2306,'UniProt Function',NULL,2953,NULL,'May play a role in spermatogenesis (PubMed:12223483). May regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity).',NULL,NULL,NULL,NULL,NULL),(2307,'UniProt Function',NULL,2954,NULL,'Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned (PubMed:21983783, PubMed:26297806). Also recruits CDK1 to centrosomes (PubMed:21406398). Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (PubMed:21406398).',NULL,NULL,NULL,NULL,NULL),(2308,'UniProt Function',NULL,2955,NULL,'Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2 fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5 convertase. It has also been implicated in proliferation and differentiation of preactivated B-lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba inhibits the proliferation of preactivated B-lymphocytes.',NULL,NULL,NULL,NULL,NULL),(2309,'UniProt Function',NULL,2958,NULL,'Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation. Modulates also progesterone/PGR, glucocorticoid/NR3C1 and androgen/AR receptors transactivation, although at lower level; little effect on vitamin D receptor/VDR.',NULL,NULL,NULL,NULL,NULL),(2310,'UniProt Function',NULL,2959,NULL,'Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC120, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092).',NULL,NULL,NULL,NULL,NULL),(2311,'UniProt Function',NULL,2960,NULL,'Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131972). Probably acts together with CCDC40 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly (PubMed:21131972).',NULL,NULL,NULL,NULL,NULL),(2312,'UniProt Function',NULL,2962,NULL,'May be a regulator of keratinocyte proliferation or differentiation.',NULL,NULL,NULL,NULL,NULL),(2313,'UniProt Function',NULL,2963,NULL,'Links covalently the heme group to the apoprotein of cytochrome c.',NULL,NULL,NULL,NULL,NULL),(2314,'UniProt Function',NULL,2964,NULL,'Activating cyclin for the cyclin-associated kinase CDK10.',NULL,NULL,NULL,NULL,NULL),(2315,'UniProt Function',NULL,2965,NULL,'Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. Signals through CCR2B and CCR3 receptors. Plays a role in the accumulation of leukocytes at both sides of allergic and non-allergic inflammation. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. May play a role in the monocyte attraction in tissues chronically exposed to exogenous pathogens.',NULL,NULL,NULL,NULL,NULL),(2316,'UniProt Function',NULL,2966,NULL,'Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin T) complex, also called positive transcription elongation factor B (P-TEFB), which is proposed to facilitate the transition from abortive to production elongation by phosphorylating the CTD (carboxy-terminal domain) of the large subunit of RNA polymerase II (RNAP II) (PubMed:9499409, PubMed:15563843). The activity of this complex is regulated by binding with 7SK snRNA (PubMed:11713533). Plays a role during muscle differentiation; P-TEFB complex interacts with MYOD1; this tripartite complex promotes the transcriptional activity of MYOD1 through its CDK9-mediated phosphorylation and binds the chromatin of promoters and enhancers of muscle-specific genes; this event correlates with hyperphosphorylation of the CTD domain of RNA pol II (By similarity). In addition, enhances MYOD1-dependent transcription through interaction with PKN1 (PubMed:16331689). Involved in early embryo development (By similarity).',NULL,NULL,NULL,NULL,NULL),(2317,'UniProt Function',NULL,2966,NULL,'(Microbial infection) Promotes transcriptional activation of early and late herpes simplex virus 1/HHV-1 promoters.',NULL,NULL,NULL,NULL,NULL),(2318,'UniProt Function',NULL,2967,NULL,'Receptor for chemokines SCYA27 and SCYA28. Subsequently transduces a signal by increasing the intracellular calcium ions level and stimulates chemotaxis in a pre-B cell line.',NULL,NULL,NULL,NULL,NULL),(2319,'UniProt Function',NULL,2968,NULL,'Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Binds to and activates cyclin-dependent kinase CDK8 that phosphorylates the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAp II), which may inhibit the formation of a transcription initiation complex.',NULL,NULL,NULL,NULL,NULL),(2320,'UniProt Function',NULL,2969,NULL,'Involved in pre-mRNA splicing. May induce cell death, possibly by acting on the transcription and RNA processing of apoptosis-related factors.',NULL,NULL,NULL,NULL,NULL),(2321,'UniProt Function',NULL,2970,NULL,'Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells.',NULL,NULL,NULL,NULL,NULL),(2322,'UniProt Function',NULL,2972,NULL,'Multifunctional glycoprotein that acts as receptor for a broad range of ligands. Ligands can be of proteinaceous nature like thrombospondin, fibronectin, collagen or amyloid-beta as well as of lipidic nature such as oxidized low-density lipoprotein (oxLDL), anionic phospholipids, long-chain fatty acids and bacterial diacylated lipopeptides. They are generally multivalent and can therefore engage multiple receptors simultaneously, the resulting formation of CD36 clusters initiates signal transduction and internalization of receptor-ligand complexes. The dependency on coreceptor signaling is strongly ligand specific. Cellular responses to these ligands are involved in angiogenesis, inflammatory response, fatty acid metabolism, taste and dietary fat processing in the intestine (Probable). Binds long-chain fatty acids and facilitates their transport into cells, thus participating in muscle lipid utilization, adipose energy storage, and gut fat absorption (By similarity) (PubMed:18353783, PubMed:21610069). In the small intestine, plays a role in proximal absorption of dietary fatty acid and cholesterol for optimal chylomicron formation, possibly through the activation of MAPK1/3 (ERK1/2) signaling pathway (By similarity) (PubMed:18753675). Involved in oral fat perception and preferences (PubMed:22240721, PubMed:25822988). Detection into the tongue of long-chain fatty acids leads to a rapid and sustained rise in flux and protein content of pancreatobiliary secretions (By similarity). In taste receptor cells, mediates the induction of an increase in intracellular calcium levels by long-chain fatty acids, leading to the activation of the gustatory neurons in the nucleus of the solitary tract (By similarity). Important factor in both ventromedial hypothalamus neuronal sensing of long-chain fatty acid and the regulation of energy and glucose homeostasis (By similarity). Receptor for thombospondins, THBS1 and THBS2, mediating their antiangiogenic effects (By similarity). As a coreceptor for TLR4:TLR6 heterodimer, promotes inflammation in monocytes/macrophages. Upon ligand binding, such as oxLDL or amyloid-beta 42, interacts with the heterodimer TLR4:TLR6, the complex is internalized and triggers inflammatory response, leading to NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway, as well as IL1B secretion, through the priming and activation of the NLRP3 inflammasome (By similarity) (PubMed:20037584). Selective and nonredundant sensor of microbial diacylated lipopeptide that signal via TLR2:TLR6 heterodimer, this cluster triggers signaling from the cell surface, leading to the NF-kappa-B-dependent production of TNF, via MYD88 signaling pathway and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (By similarity) (PubMed:16880211).',NULL,NULL,NULL,NULL,NULL),(2323,'UniProt Function',NULL,2972,NULL,'(Microbial infection) Directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and the internalization of particles independently of TLR signaling.',NULL,NULL,NULL,NULL,NULL),(2324,'UniProt Function',NULL,2973,NULL,'Seems to phosphorylate critical substrates that regulate the G1/S phase transition and/or DNA replication. Can phosphorylates MCM2 and MCM3.',NULL,NULL,NULL,NULL,NULL),(2325,'UniProt Function',NULL,2974,NULL,'May be involved in the acrosome reaction (By similarity). May play an important role in the regulation of lymphoma cell growth (PubMed:1695320, PubMed:2398277).',NULL,NULL,NULL,NULL,NULL),(2326,'UniProt Function',NULL,2974,NULL,'(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes. Associates with CLDN1 and the CLDN1-CD81 receptor complex is essential for HCV entry into host cell.',NULL,NULL,NULL,NULL,NULL),(2327,'UniProt Function',NULL,2975,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(2328,'UniProt Function',NULL,2975,NULL,'(Microbial infection) Acts as a receptor for rhinovirus C.',NULL,NULL,NULL,NULL,NULL),(2329,'UniProt Function',NULL,2976,NULL,'Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase.',NULL,NULL,NULL,NULL,NULL),(2330,'UniProt Function',NULL,2976,NULL,'The soluble form from urine retains its specific complement binding activity, but exhibits greatly reduced ability to inhibit MAC assembly on cell membranes.',NULL,NULL,NULL,NULL,NULL),(2331,'UniProt Function',NULL,2977,NULL,'Catalyzes the biosynthesis of phosphatidylinositol (PtdIns) as well as PtdIns:inositol exchange reaction. May thus act to reduce an excessive cellular PtdIns content. The exchange activity is due to the reverse reaction of PtdIns synthase and is dependent on CMP, which is tightly bound to the enzyme.',NULL,NULL,NULL,NULL,NULL),(2332,'UniProt Function',NULL,2979,NULL,'Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865).',NULL,NULL,NULL,NULL,NULL),(2333,'UniProt Function',NULL,2980,NULL,'Necessary for centrosome duplication; the function seems also to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation (PubMed:21059844, PubMed:20852615). Proposed to snatch PLK4 away from PLK4:CEP92 complexes in early G1 daughter centriole and to reposition PLK4 at the outer boundary of a newly forming CEP152 ring structure (PubMed:24997597). Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles (By similarity). Overexpression of CEP152 can drive amplification of centrioles (PubMed:20852615).',NULL,NULL,NULL,NULL,NULL),(2334,'UniProt Function',NULL,2982,NULL,'Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5\'-T[TG]NNGNAA[TG]-3\' acting as an activator on distinct target genes (PubMed:11242107). During early embryogenesis, plays essential and redundant functions with CEBPB. Essential for the transition from common myeloid progenitors (CMP) to granulocyte/monocyte progenitors (GMP). Critical for the proper development of the liver and the lung (By similarity). Necessary for terminal adipocyte differentiation, is required for postnatal maintenance of systemic energy homeostasis and lipid storage (By similarity). To regulate these different processes at the proper moment and tissue, interplays with other transcription factors and modulators. Downregulates the expression of genes that maintain cells in an undifferentiated and proliferative state through E2F1 repression, which is critical for its ability to induce adipocyte and granulocyte terminal differentiation. Reciprocally E2F1 blocks adipocyte differentiation by binding to specific promoters and repressing CEBPA binding to its target gene promoters. Proliferation arrest also depends on a functional binding to SWI/SNF complex (PubMed:14660596). In liver, regulates gluconeogenesis and lipogenesis through different mechanisms. To regulate gluconeogenesis, functionally cooperates with FOXO1 binding to IRE-controlled promoters and regulating the expression of target genes such as PCK1 or G6PC. To modulate lipogenesis, interacts and transcriptionally synergizes with SREBF1 in promoter activation of specific lipogenic target genes such as ACAS2. In adipose tissue, seems to act as FOXO1 coactivator accessing to ADIPOQ promoter through FOXO1 binding sites (By similarity).',NULL,NULL,NULL,NULL,NULL),(2335,'UniProt Function',NULL,2982,NULL,'Isoform 3: Can act as dominant-negative. Binds DNA and have transctivation activity, even if much less efficiently than isoform 2. Does not inhibit cell proliferation (PubMed:14660596).',NULL,NULL,NULL,NULL,NULL),(2336,'UniProt Function',NULL,2982,NULL,'Isoform 4: Directly and specifically enhances ribosomal DNA transcription interacting with RNA polymerase I-specific cofactors and inducing histone acetylation.',NULL,NULL,NULL,NULL,NULL),(2337,'UniProt Function',NULL,2983,NULL,'Centrosomal protein which may be required for microtubule attachment to centrosomes.',NULL,NULL,NULL,NULL,NULL),(2338,'UniProt Function',NULL,2985,NULL,'Acts upon elastin.',NULL,NULL,NULL,NULL,NULL),(2339,'UniProt Function',NULL,2987,NULL,'Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid, vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as a transcriptional corepressor via its interaction with the NFKB1 NF-kappa-B subunit, possibly by interfering with the transactivation domain of NFKB1. Induces apoptosis in breast cancer cells, but not in other cancer cells, via a caspase-2 mediated pathway that involves mitochondrial membrane permeabilization but does not require other caspases. May also act as an inhibitor of cyclin A-associated kinase. Also acts a component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex.',NULL,NULL,NULL,NULL,NULL),(2340,'UniProt Function',NULL,2989,NULL,'Cytokine that may play a role in anterior neural induction and somite formation during embryogenesis in part through a BMP-inhibitory mechanism. Can regulate Nodal signaling during gastrulation as well as the formation and patterning of the primitive streak (By similarity).',NULL,NULL,NULL,NULL,NULL),(2341,'UniProt Function',NULL,2990,NULL,'Flagellar protein involved in sperm flagellum axoneme organization and function.',NULL,NULL,NULL,NULL,NULL),(2342,'UniProt Function',NULL,2993,NULL,'Associates with CD4 or CD8 and delivers costimulatory signals for the TCR/CD3 pathway.',NULL,NULL,NULL,NULL,NULL),(2343,'UniProt Function',NULL,2994,NULL,'May play a significant role in antigen presentation or the cellular interactions that follow lymphocyte activation.',NULL,NULL,NULL,NULL,NULL),(2344,'UniProt Function',NULL,2995,NULL,'Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(2345,'UniProt Function',NULL,2996,NULL,'Serine/threonine-protein kinase involved in the control of the cell cycle; essential for meiosis, but dispensable for mitosis. Phosphorylates CTNNB1, USP37, p53/TP53, NPM1, CDK7, RB1, BRCA2, MYC, NPAT, EZH2. Triggers duplication of centrosomes and DNA. Acts at the G1-S transition to promote the E2F transcriptional program and the initiation of DNA synthesis, and modulates G2 progression; controls the timing of entry into mitosis/meiosis by controlling the subsequent activation of cyclin B/CDK1 by phosphorylation, and coordinates the activation of cyclin B/CDK1 at the centrosome and in the nucleus. Crucial role in orchestrating a fine balance between cellular proliferation, cell death, and DNA repair in human embryonic stem cells (hESCs). Activity of CDK2 is maximal during S phase and G2; activated by interaction with cyclin E during the early stages of DNA synthesis to permit G1-S transition, and subsequently activated by cyclin A2 (cyclin A1 in germ cells) during the late stages of DNA replication to drive the transition from S phase to mitosis, the G2 phase. EZH2 phosphorylation promotes H3K27me3 maintenance and epigenetic gene silencing. Phosphorylates CABLES1 (By similarity). Cyclin E/CDK2 prevents oxidative stress-mediated Ras-induced senescence by phosphorylating MYC. Involved in G1-S phase DNA damage checkpoint that prevents cells with damaged DNA from initiating mitosis; regulates homologous recombination-dependent repair by phosphorylating BRCA2, this phosphorylation is low in S phase when recombination is active, but increases as cells progress towards mitosis. In response to DNA damage, double-strand break repair by homologous recombination a reduction of CDK2-mediated BRCA2 phosphorylation. Phosphorylation of RB1 disturbs its interaction with E2F1. NPM1 phosphorylation by cyclin E/CDK2 promotes its dissociates from unduplicated centrosomes, thus initiating centrosome duplication. Cyclin E/CDK2-mediated phosphorylation of NPAT at G1-S transition and until prophase stimulates the NPAT-mediated activation of histone gene transcription during S phase. Required for vitamin D-mediated growth inhibition by being itself inactivated. Involved in the nitric oxide- (NO) mediated signaling in a nitrosylation/activation-dependent manner. USP37 is activated by phosphorylation and thus triggers G1-S transition. CTNNB1 phosphorylation regulates insulin internalization. Phosphorylates FOXP3 and negatively regulates its transcriptional activity and protein stability (By similarity). Phosphorylates CDK2AP2 (PubMed:12944431).',NULL,NULL,NULL,NULL,NULL),(2346,'UniProt Function',NULL,2998,NULL,'May be involved in p53/TP53 mediated inhibition of cellular proliferation in response to DNA damage. Binds to and inhibits cyclin-dependent kinase activity, preventing phosphorylation of critical cyclin-dependent kinase substrates and blocking cell cycle progression. Functions in the nuclear localization and assembly of cyclin D-CDK4 complex and promotes its kinase activity towards RB1. At higher stoichiometric ratios, inhibits the kinase activity of the cyclin D-CDK4 complex. Inhibits DNA synthesis by DNA polymerase delta by competing with POLD3 for PCNA binding (PubMed:11595739).',NULL,NULL,NULL,NULL,NULL),(2347,'UniProt Function',NULL,3000,NULL,'Proline-directed serine/threonine-protein kinase essential for neuronal cell cycle arrest and differentiation and may be involved in apoptotic cell death in neuronal diseases by triggering abortive cell cycle re-entry. Interacts with D1 and D3-type G1 cyclins. Phosphorylates SRC, NOS3, VIM/vimentin, p35/CDK5R1, MEF2A, SIPA1L1, SH3GLB1, PXN, PAK1, MCAM/MUC18, SEPT5, SYN1, DNM1, AMPH, SYNJ1, CDK16, RAC1, RHOA, CDC42, TONEBP/NFAT5, MAPT/TAU, MAP1B, histone H1, p53/TP53, HDAC1, APEX1, PTK2/FAK1, huntingtin/HTT, ATM, MAP2, NEFH and NEFM. Regulates several neuronal development and physiological processes including neuronal survival, migration and differentiation, axonal and neurite growth, synaptogenesis, oligodendrocyte differentiation, synaptic plasticity and neurotransmission, by phosphorylating key proteins. Activated by interaction with CDK5R1 (p35) and CDK5R2 (p39), especially in post-mitotic neurons, and promotes CDK5R1 (p35) expression in an autostimulation loop. Phosphorylates many downstream substrates such as Rho and Ras family small GTPases (e.g. PAK1, RAC1, RHOA, CDC42) or microtubule-binding proteins (e.g. MAPT/TAU, MAP2, MAP1B), and modulates actin dynamics to regulate neurite growth and/or spine morphogenesis. Phosphorylates also exocytosis associated proteins such as MCAM/MUC18, SEPT5, SYN1, and CDK16/PCTAIRE1 as well as endocytosis associated proteins such as DNM1, AMPH and SYNJ1 at synaptic terminals. In the mature central nervous system (CNS), regulates neurotransmitter movements by phosphorylating substrates associated with neurotransmitter release and synapse plasticity; synaptic vesicle exocytosis, vesicles fusion with the presynaptic membrane, and endocytosis. Promotes cell survival by activating anti-apoptotic proteins BCL2 and STAT3, and negatively regulating of JNK3/MAPK10 activity. Phosphorylation of p53/TP53 in response to genotoxic and oxidative stresses enhances its stabilization by preventing ubiquitin ligase-mediated proteasomal degradation, and induces transactivation of p53/TP53 target genes, thus regulating apoptosis. Phosphorylation of p35/CDK5R1 enhances its stabilization by preventing calpain-mediated proteolysis producing p25/CDK5R1 and avoiding ubiquitin ligase-mediated proteasomal degradation. During aberrant cell-cycle activity and DNA damage, p25/CDK5 activity elicits cell-cycle activity and double-strand DNA breaks that precedes neuronal death by deregulating HDAC1. DNA damage triggered phosphorylation of huntingtin/HTT in nuclei of neurons protects neurons against polyglutamine expansion as well as DNA damage mediated toxicity. Phosphorylation of PXN reduces its interaction with PTK2/FAK1 in matrix-cell focal adhesions (MCFA) during oligodendrocytes (OLs) differentiation. Negative regulator of Wnt/beta-catenin signaling pathway. Activator of the GAIT (IFN-gamma-activated inhibitor of translation) pathway, which suppresses expression of a post-transcriptional regulon of proinflammatory genes in myeloid cells; phosphorylates the linker domain of glutamyl-prolyl tRNA synthetase (EPRS) in a IFN-gamma-dependent manner, the initial event in assembly of the GAIT complex. Phosphorylation of SH3GLB1 is required for autophagy induction in starved neurons. Phosphorylation of TONEBP/NFAT5 in response to osmotic stress mediates its rapid nuclear localization. MEF2 is inactivated by phosphorylation in nucleus in response to neurotoxin, thus leading to neuronal apoptosis. APEX1 AP-endodeoxyribonuclease is repressed by phosphorylation, resulting in accumulation of DNA damage and contributing to neuronal death. NOS3 phosphorylation down regulates NOS3-derived nitrite (NO) levels. SRC phosphorylation mediates its ubiquitin-dependent degradation and thus leads to cytoskeletal reorganization. May regulate endothelial cell migration and angiogenesis via the modulation of lamellipodia formation. Involved in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling. The complex p35/CDK5 participates in the regulation of the circadian clock by modulating the function of CLOCK protein: phosphorylates CLOCK at \'Thr-451\' and \'Thr-461\' and regulates the transcriptional activity of the CLOCK-ARNTL/BMAL1 heterodimer in association with altered stability and subcellular distribution.',NULL,NULL,NULL,NULL,NULL),(2348,'UniProt Function',NULL,3001,NULL,'Transcription activator that recognizes two different DNA motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers (PubMed:16397300). Important transcription factor regulating the expression of genes involved in immune and inflammatory responses (PubMed:1741402, PubMed:16397300). Transcriptional activator that enhances IL6 transcription alone and as heterodimer with CEBPB (PubMed:1741402).',NULL,NULL,NULL,NULL,NULL),(2349,'UniProt Function',NULL,3002,NULL,'Granulocyte orphan receptor that acts as an trigger efficient phagocytosis of attached particles.',NULL,NULL,NULL,NULL,NULL),(2350,'UniProt Function',NULL,3003,NULL,'Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973).',NULL,NULL,NULL,NULL,NULL),(2351,'UniProt Function',NULL,3005,NULL,'Mediates depolymerization of hyaluronic acid (HA) via the cell membrane-associated clathrin-coated pit endocytic pathway. Binds to hyaluronic acid. Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product, a process that may occur through rapid vesicle endocytosis and recycling without intracytoplasmic accumulation or digestion in lysosomes. Involved in hyaluronan catabolism in the dermis of the skin and arthritic synovium. Positively regulates epithelial-mesenchymal transition (EMT), and hence tumor cell growth, invasion and cancer dissemination. In collaboration with HSPA5/BIP, promotes cancer cell migration in a calcium and PKC-dependent manner. May be involved in hearing.',NULL,NULL,NULL,NULL,NULL),(2352,'UniProt Function',NULL,3007,NULL,'May play a role in development of the periodontium which surrounds and supports the teeth by promoting the differentiation of multi-potent cells from the periodontal ligament into cementoblasts to form the cementum (PubMed:21929512, PubMed:17509525, PubMed:21465469). Binds hydroxyapatite and may promote the biomineralization of the cementum (PubMed:19393626). Also promotes cell proliferation (PubMed:17509525, PubMed:21929512, PubMed:26011628).',NULL,NULL,NULL,NULL,NULL),(2353,'UniProt Function',NULL,3010,NULL,'Efficient protease with alanine specificity but only little elastolytic activity.',NULL,NULL,NULL,NULL,NULL),(2354,'UniProt Function',NULL,3012,NULL,'Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3\'-end of 18S rRNA in the 40S particle (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604).',NULL,NULL,NULL,NULL,NULL),(2355,'UniProt Function',NULL,3013,NULL,'Plays a fundamental role in microtubule-organizing center structure and function (PubMed:8175926). Plays a role in sperm cilia formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(2356,'UniProt Function',NULL,3015,NULL,'Plays a fundamental role in microtubule organizing center structure and function. Required for centriole duplication and correct spindle formation. Has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CCP110.',NULL,NULL,NULL,NULL,NULL),(2357,'UniProt Function',NULL,3015,NULL,'Involved in global genome nucleotide excision repair (GG-NER) by acting as component of the XPC complex. Cooperatively with RAD23B appears to stabilize XPC. In vitro, stimulates DNA binding of the XPC:RAD23B dimer.',NULL,NULL,NULL,NULL,NULL),(2358,'UniProt Function',NULL,3015,NULL,'The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5\'-to-3\' direction by the NER machinery. Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair.',NULL,NULL,NULL,NULL,NULL),(2359,'UniProt Function',NULL,3015,NULL,'Component of the TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, SEM1, and either centrin CETN2 or CETN3 (PubMed:22307388). The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery (PubMed:22307388).',NULL,NULL,NULL,NULL,NULL),(2360,'UniProt Function',NULL,3017,NULL,'Apoptosis regulator protein which may function as a crucial link between cell survival and cell death pathways in mammalian cells. Acts as an inhibitor of TNFRSF6 mediated apoptosis. A proteolytic fragment (p43) is likely retained in the death-inducing signaling complex (DISC) thereby blocking further recruitment and processing of caspase-8 at the complex. Full length and shorter isoforms have been shown either to induce apoptosis or to reduce TNFRSF-triggered apoptosis. Lacks enzymatic (caspase) activity.',NULL,NULL,NULL,NULL,NULL),(2361,'UniProt Function',NULL,3020,NULL,'Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). Involved in DNA damage repair (PubMed:26290490).',NULL,NULL,NULL,NULL,NULL),(2362,'UniProt Function',NULL,3022,NULL,'Beta subunit of the human chorionic gonadotropin (hCG). hCG is a complex glycoprotein composed of two glycosylated subunits alpha and beta which are non-covalently associated. The alpha subunit is identical to those in the pituitary gonadotropin hormones (LH, FSH and TSH). The beta subunits are distinct in each of the hormones and confer receptor and biological specificity. Has an essential role in pregnancy and maternal adaptation. Stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy.',NULL,NULL,NULL,NULL,NULL),(2363,'UniProt Function',NULL,3023,NULL,'Beta subunit of the human chorionic gonadotropin (hCG). hCG is a complex glycoprotein composed of two glycosylated subunits alpha and beta which are non-covalently associated. The alpha subunit is identical to those in the pituitary gonadotropin hormones (LH, FSH and TSH). The beta subunits are distinct in each of the hormones and confer receptor and biological specificity. Has an essential role for pregnancy and maternal adaptation. Stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy.',NULL,NULL,NULL,NULL,NULL),(2364,'UniProt Function',NULL,3025,NULL,'Promotes attachment of chondrocytes, fibroblasts, and osteoblasts. This binding is mediated (at least for chondrocytes and fibroblasts) by the integrin alpha(2)beta(1). May play an important role in the regulation of chondrocyte growth and proliferation (By similarity).',NULL,NULL,NULL,NULL,NULL),(2365,'UniProt Function',NULL,3026,NULL,'DNA helicase which plays a role in chromatin-remodeling following DNA damage. Targeted to sites of DNA damage through interaction with poly(ADP-ribose) and functions to regulate chromatin during DNA repair. Able to catalyze nucleosome sliding in an ATP-dependent manner. Helicase activity is strongly stimulated upon poly(ADP-ribose)-binding.',NULL,NULL,NULL,NULL,NULL),(2366,'UniProt Function',NULL,3027,NULL,'Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.',NULL,NULL,NULL,NULL,NULL),(2367,'UniProt Function',NULL,3028,NULL,'Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).',NULL,NULL,NULL,NULL,NULL),(2368,'UniProt Function',NULL,3029,NULL,'Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3\'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (PubMed:8626397, PubMed:17024186, PubMed:29276085). CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3\'-end, so called cleavage and polyadenylation signals (pA signals) (PubMed:8626397, PubMed:17024186). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3\'-end formation (PubMed:23187700, PubMed:29276085). The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5\'-UGUA-3\' elements localized in the 3\'-untranslated region (UTR) for a huge number of pre-mRNAs (PubMed:20695905, PubMed:29276085). CPSF7 activates directly the mRNA 3\'-processing machinery (PubMed:29276085). Binds to pA signals in RNA substrates (PubMed:8626397, PubMed:17024186).',NULL,NULL,NULL,NULL,NULL),(2369,'UniProt Function',NULL,3032,NULL,'Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.',NULL,NULL,NULL,NULL,NULL),(2370,'UniProt Function',NULL,3033,NULL,'Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole.',NULL,NULL,NULL,NULL,NULL),(2371,'UniProt Function',NULL,3036,NULL,'Isoform vlAKAP: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA).',NULL,NULL,NULL,NULL,NULL),(2372,'UniProt Function',NULL,3037,NULL,'Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-133 phosphorylation. Involved in different cellular processes including the synchronization of circadian rhythmicity and the differentiation of adipose cells.',NULL,NULL,NULL,NULL,NULL),(2373,'UniProt Function',NULL,3039,NULL,'May contribute to the transcriptional control of cell growth and differentiation. Antagonizes transcriptional activation and cellular transformation by the adenovirus E1A protein. The transcriptional control activity of cell growth requires interaction with IGF2R.',NULL,NULL,NULL,NULL,NULL),(2374,'UniProt Function',NULL,3040,NULL,'Crystallins are the dominant structural components of the vertebrate eye lens.',NULL,NULL,NULL,NULL,NULL),(2375,'UniProt Function',NULL,3041,NULL,'Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se.',NULL,NULL,NULL,NULL,NULL),(2376,'UniProt Function',NULL,3042,NULL,'Acts as a negative regulator of the endoplasmic reticulum stress response or unfolded protein response (UPR). Represses the transcriptional activity of CREB3 during the UPR. Recruits CREB3 into nuclear foci.',NULL,NULL,NULL,NULL,NULL),(2377,'UniProt Function',NULL,3043,NULL,'Putative serine protease inhibitor.',NULL,NULL,NULL,NULL,NULL),(2378,'UniProt Function',NULL,3044,NULL,'Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots \'circa\' (about) and \'diem\' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for \'timegivers\'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5\'-CACGTG-3\') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. CRY1 and CRY2 have redundant functions but also differential and selective contributions at least in defining the pace of the SCN circadian clock and its circadian transcriptional outputs. Less potent transcriptional repressor in cerebellum and liver than CRY1, though less effective in lengthening the period of the SCN oscillator. Seems to play a critical role in tuning SCN circadian period by opposing the action of CRY1. With CRY1, dispensable for circadian rhythm generation but necessary for the development of intercellular networks for rhythm synchrony. May mediate circadian regulation of cAMP signaling and gluconeogenesis by blocking glucagon-mediated increases in intracellular cAMP concentrations and in CREB1 phosphorylation. Besides its role in the maintenance of the circadian clock, is also involved in the regulation of other processes. Plays a key role in glucose and lipid metabolism modulation, in part, through the transcriptional regulation of genes involved in these pathways, such as LEP or ACSL4. Represses glucocorticoid receptor NR3C1/GR-induced transcriptional activity by binding to glucocorticoid response elements (GREs). Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1. Represses the CLOCK-ARNTL/BMAL1 induced transcription of NAMPT (By similarity).',NULL,NULL,NULL,NULL,NULL),(2379,'UniProt Function',NULL,3045,NULL,'Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors.',NULL,NULL,NULL,NULL,NULL),(2380,'UniProt Function',NULL,3046,NULL,'May act as a potential tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(2381,'UniProt Function',NULL,3054,NULL,'Probable protease subunit of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of the SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. In the complex, it probably acts as the catalytic center that mediates the cleavage of Nedd8 from cullins. It however has no metalloprotease activity by itself and requires the other subunits of the CSN complex. Interacts directly with a large number of proteins that are regulated by the CSN complex, confirming a key role in the complex. Promotes the proteasomal degradation of BRSK2.',NULL,NULL,NULL,NULL,NULL),(2382,'UniProt Function',NULL,3055,NULL,'Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. ENAH induces the formation of F-actin rich outgrowths in fibroblasts. Acts synergistically with BAIAP2-alpha and downstream of NTN1 to promote filipodia formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(2383,'UniProt Function',NULL,3056,NULL,'Endoglycosidase that releases N-glycans from glycoproteins by cleaving the beta-1,4-glycosidic bond in the N,N\'-diacetylchitobiose core. Involved in the processing of free oligosaccharides in the cytosol.',NULL,NULL,NULL,NULL,NULL),(2384,'UniProt Function',NULL,3057,NULL,'Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively.',NULL,NULL,NULL,NULL,NULL),(2385,'UniProt Function',NULL,3058,NULL,'May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid.',NULL,NULL,NULL,NULL,NULL),(2386,'UniProt Function',NULL,3059,NULL,'Oxysterol 7alpha-hydroxylase that mediates formation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC) from 25-hydroxycholesterol (PubMed:10588945). Plays a key role in cell positioning and movement in lymphoid tissues: 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC) acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(2387,'UniProt Function',NULL,3060,NULL,'Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D3) to 1-alpha,25-dihydroxyvitamin D3 (1alpha,25(OH)(2)D3), and of 24,25-dihydroxyvitamin D3 (24,25(OH)(2)D3) to 1-alpha,24,25-trihydroxyvitamin D3 (1alpha,24,25(OH)(3)D3). Is also active with 25-hydroxy-24-oxo-vitamin D3. Plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.',NULL,NULL,NULL,NULL,NULL),(2388,'UniProt Function',NULL,3063,NULL,'May play a role in translational regulation of stored mRNAs in transcriptionally inactive haploid spermatids. Binds to poly(U) RNA oligomers (By similarity). Required for cell cycle progression, specifically for the transition from metaphase to anaphase (PubMed:26398195).',NULL,NULL,NULL,NULL,NULL),(2389,'UniProt Function',NULL,3064,NULL,'Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(2390,'UniProt Function',NULL,3065,NULL,'Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).',NULL,NULL,NULL,NULL,NULL),(2391,'UniProt Function',NULL,3066,NULL,'Metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. Inactivates a number of drugs and xenobiotics and also bioactivates many xenobiotic substrates to their hepatotoxic or carcinogenic forms.',NULL,NULL,NULL,NULL,NULL),(2392,'UniProt Function',NULL,3069,NULL,'Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17403899, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17403899). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).',NULL,NULL,NULL,NULL,NULL),(2393,'UniProt Function',NULL,3069,NULL,'(Microbial infection) May favor virus entry in case of infection with herpes simplex virus 1 (HSV1) or herpes simplex virus 2 (HSV2).',NULL,NULL,NULL,NULL,NULL),(2394,'UniProt Function',NULL,3070,NULL,'Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression.',NULL,NULL,NULL,NULL,NULL),(2395,'UniProt Function',NULL,3071,NULL,'Endoplasmic reticulum (ER)-bound sequence-specific transcription factor that directly binds DNA and activates transcription (PubMed:9271389, PubMed:19779205, PubMed:10984507, PubMed:15845366, PubMed:16940180). Plays a role in the unfolded protein response (UPR), promoting cell survival versus ER stress-induced apoptotic cell death (PubMed:15845366, PubMed:16940180). Also involved in cell proliferation, migration and differentiation, tumor suppression and inflammatory gene expression. Acts as a positive regulator of LKN-1/CCL15-induced chemotaxis signaling of leukocyte cell migration (PubMed:19779205, PubMed:15001559, PubMed:17296613). Associates with chromatin to the HERPUD1 promoter (PubMed:16940180). Also induces transcriptional activation of chemokine receptors (PubMed:18587271, PubMed:17296613).',NULL,NULL,NULL,NULL,NULL),(2396,'UniProt Function',NULL,3071,NULL,'Processed cyclic AMP-responsive element-binding protein 3: This is the transcriptionally active form that translocates to the nucleus and activates unfolded protein response (UPR) target genes during endoplasmic reticulum (ER) stress response. Binds the cAMP response element (CRE) (consensus: 5\'-GTGACGT[AG][AG]-3\') and C/EBP sequences present in many promoters to activate transcription of the genes. Binds to the unfolded protein response element (UPRE) consensus sequences sites. Binds DNA to the 5\'-CCAC[GA]-3\'half of ERSE II (5\'-ATTGG-N-CCACG-3\').',NULL,NULL,NULL,NULL,NULL),(2397,'UniProt Function',NULL,3071,NULL,'Isoform 2: Functions as a negative transcriptional regulator in ligand-induced transcriptional activation of the glucocorticoid receptor NR3C1 by recruiting and activating histone deacetylases (HDAC1, HDAC2 and HDAC6). Also decreases the acetylation level of histone H4. Does not promote the chemotactic activity of leukocyte cells.',NULL,NULL,NULL,NULL,NULL),(2398,'UniProt Function',NULL,3071,NULL,'(Microbial infection) Plays a role in human immunodeficiency virus type 1 (HIV-1) virus protein expression.',NULL,NULL,NULL,NULL,NULL),(2399,'UniProt Function',NULL,3071,NULL,'(Microbial infection) Isoform 1: Plays a role in herpes simplex virus-1 (HSV-1) latent infection and reactivation from latency. Represses the VP16-mediated transactivation of immediate early genes of the HSV-1 virus by sequestering host cell factor-1 HCFC1 in the ER membrane of sensory neurons, thereby preventing the initiation of the replicative cascade leading to latent infection.',NULL,NULL,NULL,NULL,NULL),(2400,'UniProt Function',NULL,3071,NULL,'(Microbial infection) Isoform 1: May play a role as a cellular tumor suppressor that is targeted by the hepatitis C virus (HCV) core protein.',NULL,NULL,NULL,NULL,NULL),(2401,'UniProt Function',NULL,3071,NULL,'(Microbial infection) Processed cyclic AMP-responsive element-binding protein 3: Activates transcription of genes required for reactivation of the latent HSV-1 virus. It\'s transcriptional activity is inhibited by CREBZF in a HCFC1-dependent manner, by the viral transactivator protein VP16. Binds DNA to the cAMP response element (CRE) (consensus: 5\'-GTGACGT[AG][AG]-3\') and C/EBP sequences present in many viral promoters.',NULL,NULL,NULL,NULL,NULL),(2402,'UniProt Function',NULL,3071,NULL,'(Microbial infection) Processed cyclic AMP-responsive element-binding protein 3: It\'s transcriptional activity is inhibited by CREBZF in a HCFC1-dependent manner, by the viral transactivator HCV core protein.',NULL,NULL,NULL,NULL,NULL),(2403,'UniProt Function',NULL,3072,NULL,'Crystallins are the dominant structural components of the vertebrate eye lens.',NULL,NULL,NULL,NULL,NULL),(2404,'UniProt Function',NULL,3074,NULL,'G-protein coupled receptor for CRH (corticotropin-releasing factor) and UCN (urocortin). Has high affinity for CRH and UCN. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and down-stream effectors, such as adenylate cyclase. Promotes the activation of adenylate cyclase, leading to increased intracellular cAMP levels. Inhibits the activity of the calcium channel CACNA1H. Required for normal embryonic development of the adrenal gland and for normal hormonal responses to stress. Plays a role in the response to anxiogenic stimuli.',NULL,NULL,NULL,NULL,NULL),(2405,'UniProt Function',NULL,3075,NULL,'Survival factor that participates in the clonogenicity of squamous esophageal epithelium cell lines, attenuates deoxycholic acid (DCA)-induced apoptotic cell death and release of calcium. When overexpressed in oral squamous carcinom cell lines, regulates negatively cell proliferation by the induction of G1 arrest.',NULL,NULL,NULL,NULL,NULL),(2406,'UniProt Function',NULL,3076,NULL,'Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion.',NULL,NULL,NULL,NULL,NULL),(2407,'UniProt Function',NULL,3077,NULL,'May mediate the transduction of intracellular signals.',NULL,NULL,NULL,NULL,NULL),(2408,'UniProt Function',NULL,3078,NULL,'Drug-resistance related protein, its expression is associated with the chemotherapy resistant and neoplastic phenotype. May also be linked to the malignant phenotype.',NULL,NULL,NULL,NULL,NULL),(2409,'UniProt Function',NULL,3081,NULL,'Cytokine that plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone development. Required for normal male and female fertility. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration. Plays a role in lipoprotein clearance.',NULL,NULL,NULL,NULL,NULL),(2410,'UniProt Function',NULL,3082,NULL,'Catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Regulates numerous cellular processes, such as cell cycle progression, apoptosis and transcription, as well as viral infection. May act as a regulatory node which integrates and coordinates numerous signals leading to an appropriate cellular response. During mitosis, functions as a component of the p53/TP53-dependent spindle assembly checkpoint (SAC) that maintains cyclin-B-CDK1 activity and G2 arrest in response to spindle damage. Also required for p53/TP53-mediated apoptosis, phosphorylating \'Ser-392\' of p53/TP53 following UV irradiation. Can also negatively regulate apoptosis. Phosphorylates the caspases CASP9 and CASP2 and the apoptotic regulator NOL3. Phosphorylation protects CASP9 from cleavage and activation by CASP8, and inhibits the dimerization of CASP2 and activation of CASP8. Regulates transcription by direct phosphorylation of RNA polymerases I, II, III and IV. Also phosphorylates and regulates numerous transcription factors including NF-kappa-B, STAT1, CREB1, IRF1, IRF2, ATF1, SRF, MAX, JUN, FOS, MYC and MYB. Phosphorylates Hsp90 and its co-chaperones FKBP4 and CDC37, which is essential for chaperone function. Regulates Wnt signaling by phosphorylating CTNNB1 and the transcription factor LEF1. Acts as an ectokinase that phosphorylates several extracellular proteins. During viral infection, phosphorylates various proteins involved in the viral life cycles of EBV, HSV, HBV, HCV, HIV, CMV and HPV. Phosphorylates PML at \'Ser-565\' and primes it for ubiquitin-mediated degradation. Plays an important role in the circadian clock function by phosphorylating ARNTL/BMAL1 at \'Ser-90\' which is pivotal for its interaction with CLOCK and which controls CLOCK nuclear entry (PubMed:11239457, PubMed:11704824, PubMed:16193064, PubMed:19188443, PubMed:20625391, PubMed:22406621). Phosphorylates CCAR2 at \'Thr-454\' in gastric carcinoma tissue (PubMed:24962073).',NULL,NULL,NULL,NULL,NULL),(2411,'UniProt Function',NULL,3083,NULL,'May be a novel gestational hormone required to compensate for absence of other members of the GH/CS cluster during gestation.',NULL,NULL,NULL,NULL,NULL),(2412,'UniProt Function',NULL,3084,NULL,'Participates in Wnt signaling (By similarity). Plays a complex role in regulating the basal catalytic activity of the alpha subunit.',NULL,NULL,NULL,NULL,NULL),(2413,'UniProt Function',NULL,3085,NULL,'May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.',NULL,NULL,NULL,NULL,NULL),(2414,'UniProt Function',NULL,3096,NULL,'Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.',NULL,NULL,NULL,NULL,NULL),(2415,'UniProt Function',NULL,3097,NULL,'Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.',NULL,NULL,NULL,NULL,NULL),(2416,'UniProt Function',NULL,3099,NULL,'Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Binds phospholipid membranes in a calcium-dependent manner (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(2417,'UniProt Function',NULL,3101,NULL,'Potential effector of the planar cell polarity signaling pathway. Plays a role in targeted membrane trafficking most probably at the level of vesicle fusion with membranes. Involved in cilium biogenesis by regulating the transport of cargo proteins to the basal body and to the apical tips of cilia. More generally involved in exocytosis in secretory cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(2418,'UniProt Function',NULL,3102,NULL,'Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.',NULL,NULL,NULL,NULL,NULL),(2419,'UniProt Function',NULL,3103,NULL,'Receptor for complement C3Dd, for the Epstein-Barr virus on human B-cells and T-cells and for HNRNPU (PubMed:7753047). Participates in B lymphocytes activation (PubMed:7753047).',NULL,NULL,NULL,NULL,NULL),(2420,'UniProt Function',NULL,3103,NULL,'(Microbial infection) Acts as a receptor for Epstein-Barr virus.',NULL,NULL,NULL,NULL,NULL),(2421,'UniProt Function',NULL,3104,NULL,'Crystallins are the dominant structural components of the vertebrate eye lens.',NULL,NULL,NULL,NULL,NULL),(2422,'UniProt Function',NULL,3105,NULL,'Substrate recognition component of a DCX (DDB1-CUL4-X-box) E3 protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as MEIS2. Normal degradation of key regulatory proteins is required for normal limb outgrowth and expression of the fibroblast growth factor FGF8. May play a role in memory and learning by regulating the assembly and neuronal surface expression of large-conductance calcium-activated potassium channels in brain regions involved in memory and learning via its interaction with KCNT1. Binding of pomalidomide and other thalidomide-related drugs changes the substrate specificity of the human protein, leading to decreased degradation of MEIS2 and other target proteins and increased degradation of MYC, IRF4, IKZF1 and IKZF3.',NULL,NULL,NULL,NULL,NULL),(2423,'UniProt Function',NULL,3106,NULL,'Probable regulator of CREB1 transcriptional activity which is involved in adipose cells differentiation. May also play a regulatory role in the cell cycle. Identification in a chromosomal region frequently deleted in various cancers suggests that it might act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(2424,'UniProt Function',NULL,3107,NULL,'Binds to the cAMP response element and activates transcription.',NULL,NULL,NULL,NULL,NULL),(2425,'UniProt Function',NULL,3108,NULL,'Involved in pre-mRNA splicing process.',NULL,NULL,NULL,NULL,NULL),(2426,'UniProt Function',NULL,3109,NULL,'Interaction with CADM1 promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM3 in vivo.',NULL,NULL,NULL,NULL,NULL),(2427,'UniProt Function',NULL,3110,NULL,'Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 \'Ser-133\' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PGC1alpha and inducer of mitochondrial biogenesis in muscle cells. In the hippocampus, involved in late-phase long-term potentiation (L-LTP) maintenance at the Schaffer collateral-CA1 synapses. May be required for dendritic growth of developing cortical neurons (By similarity). In concert with SIK1, regulates the light-induced entrainment of the circadian clock. In response to light stimulus, coactivates the CREB-mediated transcription of PER1 which plays an important role in the photic entrainment of the circadian clock.',NULL,NULL,NULL,NULL,NULL),(2428,'UniProt Function',NULL,3110,NULL,'(Microbial infection) Plays a role of coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR).',NULL,NULL,NULL,NULL,NULL),(2429,'UniProt Function',NULL,3111,NULL,'Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 \'Ser-133\' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PPARGC1A and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR).',NULL,NULL,NULL,NULL,NULL),(2430,'UniProt Function',NULL,3113,NULL,'Catalyzes the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. The preferred substrate is 3-sulfino-L-alanine. Does not exhibit any decarboxylation activity toward glutamate.',NULL,NULL,NULL,NULL,NULL),(2431,'UniProt Function',NULL,3114,NULL,'May play a role in chromatin regulation of male germ cells.',NULL,NULL,NULL,NULL,NULL),(2432,'UniProt Function',NULL,3115,NULL,'RNA-binding protein. Required for internal initiation of translation of human rhinovirus RNA. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain.',NULL,NULL,NULL,NULL,NULL),(2433,'UniProt Function',NULL,3117,NULL,'May mediate anti-apoptotic activity.',NULL,NULL,NULL,NULL,NULL),(2434,'UniProt Function',NULL,3118,NULL,'Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide. Does not exhibit calcium-activated chloride channel (CaCC) activity.',NULL,NULL,NULL,NULL,NULL),(2435,'UniProt Function',NULL,3119,NULL,'Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.',NULL,NULL,NULL,NULL,NULL),(2436,'UniProt Function',NULL,3120,NULL,'Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Involved in TLR3 trafficking (PubMed:24791904).',NULL,NULL,NULL,NULL,NULL),(2437,'UniProt Function',NULL,3121,NULL,'Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10436028, PubMed:11139587, PubMed:10066790, PubMed:11802162, PubMed:20230749). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system (PubMed:11139587, PubMed:20230749). It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons (By similarity). Within AP-4, the mu-type subunit AP4M1 is directly involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos (PubMed:10436028, PubMed:11139587, PubMed:26544806, PubMed:20230749). The adaptor protein complex 4 (AP-4) may also recognize other types of sorting signal (By similarity).',NULL,NULL,NULL,NULL,NULL),(2438,'UniProt Function',NULL,3123,NULL,'Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient.',NULL,NULL,NULL,NULL,NULL),(2439,'UniProt Function',NULL,3124,NULL,'GTP-binding protein involved in protein trafficking among different compartments. Modulates vesicle budding and uncoating within the Golgi complex. Deactivation induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, suggesting a crucial role in protein trafficking. In its GTP-bound form, its triggers the association with coat proteins with the Golgi membrane. The hydrolysis of ARF1-bound GTP, which is mediated by ARFGAPs proteins, is required for dissociation of coat proteins from Golgi membranes and vesicles. The GTP-bound form interacts with PICK1 to limit PICK1-mediated inhibition of Arp2/3 complex activity; the function is linked to AMPA receptor (AMPAR) trafficking, regulation of synaptic plasicity of excitatory synapses and spine shrinkage during long-term depression (LTD).',NULL,NULL,NULL,NULL,NULL),(2440,'UniProt Function',NULL,3124,NULL,'(Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase.',NULL,NULL,NULL,NULL,NULL),(2441,'UniProt Function',NULL,3125,NULL,'GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicle\'s fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and TMED2. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, as when ARF1 is deactivated. Its activity is stimulated by phosphoinosides and inhibited by phosphatidylcholine (By similarity).',NULL,NULL,NULL,NULL,NULL),(2442,'UniProt Function',NULL,3126,NULL,'Lacks ADP-ribosylation enhancing activity.',NULL,NULL,NULL,NULL,NULL),(2443,'UniProt Function',NULL,3127,NULL,'Binds and exchanges GTP and GDP.',NULL,NULL,NULL,NULL,NULL),(2444,'UniProt Function',NULL,3128,NULL,'Required for the estrogen-dependent expression of ESR1 target genes. Can act in cooperation with MED1.',NULL,NULL,NULL,NULL,NULL),(2445,'UniProt Function',NULL,3129,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(2446,'UniProt Function',NULL,3130,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(2447,'UniProt Function',NULL,3131,NULL,'May play a role in axonemal outer row dynein assembly.',NULL,NULL,NULL,NULL,NULL),(2448,'UniProt Function',NULL,3132,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(2449,'UniProt Function',NULL,3133,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(2450,'UniProt Function',NULL,3134,NULL,'RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3\'-UTR of mRNAs and regulating their translation.',NULL,NULL,NULL,NULL,NULL),(2451,'UniProt Function',NULL,3135,NULL,'Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S phase. The complex CDC7-DBF4A selectively phosphorylates MCM2 subunit at \'Ser-40\' and \'Ser-53\' and then is involved in regulating the initiation of DNA replication during cell cycle.',NULL,NULL,NULL,NULL,NULL),(2452,'UniProt Function',NULL,3136,NULL,'Required for correct intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Involved in the regulation of ciliary length.',NULL,NULL,NULL,NULL,NULL),(2453,'UniProt Function',NULL,3138,NULL,'May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(2454,'UniProt Function',NULL,3141,NULL,'Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signaling for axon repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Implicated as a tumor suppressor gene.',NULL,NULL,NULL,NULL,NULL),(2455,'UniProt Function',NULL,3142,NULL,'Probable ATP-dependent RNA helicase (By similarity). Plays a role in ribosome biogenesis and TP53/p53 regulation through its interaction with NPM1 (PubMed:23019224).',NULL,NULL,NULL,NULL,NULL),(2456,'UniProt Function',NULL,3143,NULL,'As an RNA helicase, unwinds RNA and alters RNA structures through ATP binding and hydrolysis. Involved in multiple cellular processes, including pre-mRNA splicing, alternative splicing, ribosomal RNA processing and miRNA processing, as well as transcription regulation. Regulates the alternative splicing of exons exhibiting specific features (PubMed:12138182, PubMed:23022728, PubMed:24910439, PubMed:22266867). For instance, promotes the inclusion of AC-rich alternative exons in CD44 transcripts (PubMed:12138182). This function requires the RNA helicase activity (PubMed:12138182, PubMed:23022728, PubMed:24910439, PubMed:22266867). Affects NFAT5 and histone macro-H2A.1/H2AFY alternative splicing in a CDK9-dependent manner (PubMed:26209609, PubMed:22266867). In NFAT5, promotes the introduction of alternative exon 4, which contains 2 stop codons and may target NFAT5 exon 4-containing transcripts to nonsense-mediated mRNA decay, leading to the down-regulation of NFAT5 protein (PubMed:22266867). Affects splicing of mediators of steroid hormone signaling pathway, including kinases that phosphorylates ESR1, such as CDK2, MAPK1 and GSK3B, and transcriptional regulators, such as CREBBP, MED1, NCOR1 and NCOR2. By affecting GSK3B splicing, participates in ESR1 and AR stabilization (PubMed:24275493). In myoblasts and epithelial cells, cooperates with HNRNPH1 to control the splicing of specific subsets of exons (PubMed:24910439). In addition to binding mature mRNAs, also interacts with certain pri-microRNAs, including MIR663/miR-663a, MIR99B/miR-99b, and MIR6087/miR-6087 (PubMed:25126784). Binds pri-microRNAs on the 3\' segment flanking the stem loop via the 5\'-[ACG]CAUC[ACU]-3\' consensus sequence (PubMed:24581491). Required for the production of subsets of microRNAs, including MIR21 and MIR125B1 (PubMed:24581491, PubMed:27478153). May be involved not only in microRNA primary transcript processing, but also stabilization (By similarity). Participates in MYC down-regulation at high cell density through the production of MYC-targeting microRNAs (PubMed:24581491). Along with DDX5, may be involved in the processing of the 32S intermediate into the mature 28S ribosomal RNA (PubMed:17485482). Promoter-specific transcription regulator, functioning as a coactivator or corepressor depending on the context of the promoter and the transcriptional complex in which it exists (PubMed:15298701). Enhances NFAT5 transcriptional activity (PubMed:22266867). Synergizes with TP53 in the activation of the MDM2 promoter; this activity requires acetylation on lysine residues (PubMed:17226766, PubMed:20663877, PubMed:19995069). May also coactivate MDM2 transcription through a TP53-independent pathway (PubMed:17226766). Coactivates MMP7 transcription (PubMed:17226766). Along with CTNNB1, coactivates MYC, JUN, FOSL1 and cyclin D1/CCND1 transcription (PubMed:17699760). Alone or in combination with DDX5 and/or SRA1 non-coding RNA, plays a critical role in promoting the assembly of proteins required for the formation of the transcription initiation complex and chromatin remodeling leading to coactivation of MYOD1-dependent transcription. This helicase-independent activity is required for skeletal muscle cells to properly differentiate into myotubes (PubMed:17011493, PubMed:24910439). During epithelial-to-mesenchymal transition, coregulates SMAD-dependent transcriptional activity, directly controlling key effectors of differentiation, including miRNAs which in turn directly repress its expression (PubMed:24910439). Plays a role in estrogen and testosterone signaling pathway at several levels. Mediates the use of alternative promoters in estrogen-responsive genes and regulates transcription and splicing of a large number of steroid hormone target genes (PubMed:24275493, PubMed:20406972, PubMed:20663877, PubMed:19995069). Contrary to splicing regulation activity, transcriptional coregulation of the estrogen receptor ESR1 is helicase-independent (PubMed:19718048, PubMed:24275493). Plays a role in innate immunity. Specifically restricts bunyavirus infection, including Rift Valley fever virus (RVFV) or La Crosse virus (LACV), but not vesicular stomatitis virus (VSV), in an interferon- and DROSHA-independent manner (PubMed:25126784). Binds to RVFV RNA, likely via structured viral RNA elements (PubMed:25126784). Promotes mRNA degradation mediated by the antiviral zinc-finger protein ZC3HAV1, in an ATPase-dependent manner (PubMed:18334637).',NULL,NULL,NULL,NULL,NULL),(2457,'UniProt Function',NULL,3144,NULL,'Catalyzes a reversible aldol reaction between acetaldehyde and D-glyceraldehyde 3-phosphate to generate 2-deoxy-D-ribose 5-phosphate. Participates in stress granule (SG) assembly. May allow ATP production from extracellular deoxyinosine in conditions of energy deprivation.',NULL,NULL,NULL,NULL,NULL),(2458,'UniProt Function',NULL,3145,NULL,'Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May play a role in late endosomes back to trans-Golgi network/TGN transport.',NULL,NULL,NULL,NULL,NULL),(2459,'UniProt Function',NULL,3146,NULL,'Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded protein (PubMed:15215856). Also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333).',NULL,NULL,NULL,NULL,NULL),(2460,'UniProt Function',NULL,3146,NULL,'(Microbial infection) In case of infection by cytomegaloviruses, it plays a central role in the export from the ER and subsequent degradation of MHC class I heavy chains via its interaction with US11 viral protein, which recognizes and associates with MHC class I heavy chains. Also participates in the degradation process of misfolded cytomegalovirus US2 protein.',NULL,NULL,NULL,NULL,NULL),(2461,'UniProt Function',NULL,3148,NULL,'Capable of catalyzing the interconversion of testosterone and androstenedione, as well as estradiol and estrone. Also has 20-alpha-HSD activity. Uses NADH while EDH17B3 uses NADPH.',NULL,NULL,NULL,NULL,NULL),(2462,'UniProt Function',NULL,3149,NULL,'3\'-5\'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3\' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3\'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation.',NULL,NULL,NULL,NULL,NULL),(2463,'UniProt Function',NULL,3152,NULL,'Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell death signals, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Acts as a mediator of anoikis and a suppressor of beta-catenin-dependent anchorage-independent growth of malignant epithelial cells. May play a role in granulocytic maturation (PubMed:17347302). Regulates granulocytic motility by controlling cell spreading and polarization (PubMed:24163421).',NULL,NULL,NULL,NULL,NULL),(2464,'UniProt Function',NULL,3152,NULL,'Isoform 2 is not regulated by calmodulin. It can phosphorylate MYL9. It can induce membrane blebbing and autophagic cell death.',NULL,NULL,NULL,NULL,NULL),(2465,'UniProt Function',NULL,3153,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(2466,'UniProt Function',NULL,3154,NULL,'Has a salt-sensitive antimicrobial activity against Gram-negative bacteria, including E.coli, Gram-positive, including S.aureus, and fungi, including C.albicans. Binds to and neutralizes bacterial lipopolysaccharides (LPS), abolishing TNF production by macrophages challenged with LPS. Rescues the LPS-induced reduction of sperm motility in vitro and may protect from LPS-induced lethality.',NULL,NULL,NULL,NULL,NULL),(2467,'UniProt Function',NULL,3155,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(2468,'UniProt Function',NULL,3156,NULL,'May play a role in the early stages of epithelial differentiation or in apoptosis.',NULL,NULL,NULL,NULL,NULL),(2469,'UniProt Function',NULL,3157,NULL,'RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3\'-UTR of mRNAs and regulating their translation.',NULL,NULL,NULL,NULL,NULL),(2470,'UniProt Function',NULL,3158,NULL,'Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S and M phases. The complex CDC7-DBF4B selectively phosphorylates MCM2 subunit at \'Ser-40\' and then is involved in regulating the initiation of DNA replication during cell cycle.',NULL,NULL,NULL,NULL,NULL),(2471,'UniProt Function',NULL,3160,NULL,'Potently stimulates the neddylation of cullin components of SCF-type E3 ubiquitin ligase complexes from the NEDD8-conjugating E2 enzyme UBC12. Neddylation of cullins play an essential role in the regulation of SCF-type complexes activity.',NULL,NULL,NULL,NULL,NULL),(2472,'UniProt Function',NULL,3161,NULL,'Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by recruiting and tethering dynein to microtubules. Binds to both dynein and microtubules providing a link between specific cargos, microtubules and dynein. Essential for targeting dynein to microtubule plus ends, recruiting dynein to membranous cargos and enhancing dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Can also act as a brake to slow the dynein motor during motility along the microtubule (PubMed:25185702). Can regulate microtubule stability by promoting microtubule formation, nucleation and polymerization and by inhibiting microtubule catastrophe in neurons. Inhibits microtubule catastrophe by binding both to microtubules and to tubulin, leading to enhanced microtubule stability along the axon (PubMed:23874158). Plays a role in metaphase spindle orientation (PubMed:22327364). Plays a role in centriole cohesion and subdistal appendage organization and function. Its recruitement to the centriole in a KIF3A-dependent manner is essential for the maintenance of centriole cohesion and the formation of subdistal appendage. Also required for microtubule anchoring at the mother centriole (PubMed:23386061). Plays a role in primary cilia formation (PubMed:25774020).',NULL,NULL,NULL,NULL,NULL),(2473,'UniProt Function',NULL,3162,NULL,'Microtubule-associated protein required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCLK1 in binding to a target protein. May in that way participate in a signaling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. May be part with PAFAH1B1/LIS-1 of overlapping, but distinct, signaling pathways that promote neuronal migration.',NULL,NULL,NULL,NULL,NULL),(2474,'UniProt Function',NULL,3163,NULL,'Multifunctional transcription factor in ER stress response. Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and apoptosis in response to ER stress. Plays a dual role both as an inhibitor of CCAAT/enhancer-binding protein (C/EBP) function and as an activator of other genes. Acts as a dominant-negative regulator of C/EBP-induced transcription: dimerizes with members of the C/EBP family, impairs their association with C/EBP binding sites in the promoter regions, and inhibits the expression of C/EBP regulated genes. Positively regulates the transcription of TRIB3, IL6, IL8, IL23, TNFRSF10B/DR5, PPP1R15A/GADD34, BBC3/PUMA, BCL2L11/BIM and ERO1L. Negatively regulates; expression of BCL2 and MYOD1, ATF4-dependent transcriptional activation of asparagine synthetase (ASNS), CEBPA-dependent transcriptional activation of hepcidin (HAMP) and CEBPB-mediated expression of peroxisome proliferator-activated receptor gamma (PPARG). Inhibits the canonical Wnt signaling pathway by binding to TCF7L2/TCF4, impairing its DNA-binding properties and repressing its transcriptional activity. Plays a regulatory role in the inflammatory response through the induction of caspase-11 (CASP4/CASP11) which induces the activation of caspase-1 (CASP1) and both these caspases increase the activation of pro-IL1B to mature IL1B which is involved in the inflammatory response.',NULL,NULL,NULL,NULL,NULL),(2475,'UniProt Function',NULL,3164,NULL,'Involved in pre-mRNA splicing and its phosphorylated form (by SRPK2) is required for spliceosomal B complex formation.',NULL,NULL,NULL,NULL,NULL),(2476,'UniProt Function',NULL,3165,NULL,'Inhibits cell growth by regulating the TOR signaling pathway upstream of the TSC1-TSC2 complex and downstream of AKT1.',NULL,NULL,NULL,NULL,NULL),(2477,'UniProt Function',NULL,3166,NULL,'Putative ATP-dependent RNA helicase.',NULL,NULL,NULL,NULL,NULL),(2478,'UniProt Function',NULL,3167,NULL,'Probable ATP-dependent RNA helicase. Component of the nucleolar ribosomal RNA (rRNA) processing machinery that regulates 3\' end formation of ribosomal 47S rRNA (PubMed:25825154).',NULL,NULL,NULL,NULL,NULL),(2479,'UniProt Function',NULL,3168,NULL,'Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane. All DEFA5 peptides exert antimicrobial activities, but their potency is affected by peptide processing.',NULL,NULL,NULL,NULL,NULL),(2480,'UniProt Function',NULL,3169,NULL,'Candidate tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(2481,'UniProt Function',NULL,3170,NULL,'Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and involved in skeletal muscle differentiation. Transcriptional coactivator for p53/TP53 and involved in p53/TP53 transcriptional response to DNA damage and p53/TP53-dependent apoptosis. Transcriptional coactivator for RUNX2 and involved in regulation of osteoblast differentiation. Acts as transcriptional repressor in a promoter-specific manner; the function probably involves association with histone deacetylases, such as HDAC1. As component of a large PER complex is involved in the inhibition of 3\' transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms.',NULL,NULL,NULL,NULL,NULL),(2482,'UniProt Function',NULL,3171,NULL,'ATP-dependent RNA helicase. Binds to partially double-stranded RNAs (dsRNAs) in order to unwind RNA secondary structures. Unwinding is promoted in the presence of single-strand binding proteins. Mediates also RNA duplex formation thereby displacing the single-strand RNA binding protein. ATP and ADP modulate its activity: ATP binding and hydrolysis by DDX42 triggers RNA strand separation, whereas the ADP-bound form of the protein triggers annealing of complementary RNA strands. Involved in the survival of cells by interacting with TP53BP2 and thereby counteracting the apoptosis-stimulating activity of TP53BP2. Relocalizes TP53BP2 to the cytoplasm.',NULL,NULL,NULL,NULL,NULL),(2483,'UniProt Function',NULL,3172,NULL,'Guanine nucleotide exchange factor (GEF) for RAB14. Also has some, lesser GEF activity towards RAB35.',NULL,NULL,NULL,NULL,NULL),(2484,'UniProt Function',NULL,3173,NULL,'Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase activation.',NULL,NULL,NULL,NULL,NULL),(2485,'UniProt Function',NULL,3174,NULL,'Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-monooxygenase.',NULL,NULL,NULL,NULL,NULL),(2486,'UniProt Function',NULL,3175,NULL,'Guanine nucleotide exchange factor (GEF) which may activate RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.',NULL,NULL,NULL,NULL,NULL),(2487,'UniProt Function',NULL,3177,NULL,'Adapter molecule functioning in neural development. May regulate SIAH1 activity.',NULL,NULL,NULL,NULL,NULL),(2488,'UniProt Function',NULL,3178,NULL,'Involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins. The activation/inhibition of Wnt signaling may depend on the phosphorylation status. Proposed to regulate the degradation of CTNNB1/beta-catenin, thereby modulating the transcriptional activation of target genes of the Wnt signaling pathway. Its function in stabilizing CTNNB1 may involve inhibition of GSK3B activity. Promotes the membrane localization of CTNNB1. The cytoplasmic form can induce DVL2 degradation via a lysosome-dependent mechanism; the function is inhibited by PKA-induced binding to 14-3-3 proteins, such as YWHAB. Seems to be involved in morphogenesis at the primitive streak by regulating VANGL2 and DVL2; the function seems to be independent of canonical Wnt signaling and rather involves the non-canonical Wnt/planar cell polarity (PCP) pathway (By similarity). The nuclear form may prevent the formation of LEF1:CTNNB1 complex and recruit HDAC1 to LEF1 at target gene promoters to repress transcription thus antagonizing Wnt signaling. May be involved in positive regulation of fat cell differentiation. During neuronal differentiation may be involved in excitatory synapse organization, and dendrite formation and establishment of spines.',NULL,NULL,NULL,NULL,NULL),(2489,'UniProt Function',NULL,3179,NULL,'The dystroglycan complex is involved in a number of processes including laminin and basement membrane assembly, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, and epithelial polarization.',NULL,NULL,NULL,NULL,NULL),(2490,'UniProt Function',NULL,3179,NULL,'Alpha-dystroglycan is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin-G domains. Receptor for laminin-2 (LAMA2) and agrin in peripheral nerve Schwann cells.',NULL,NULL,NULL,NULL,NULL),(2491,'UniProt Function',NULL,3179,NULL,'Beta-dystroglycan is a transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton. Acts as a cell adhesion receptor in both muscle and non-muscle tissues. Receptor for both DMD and UTRN and, through these interactions, scaffolds axin to the cytoskeleton. Also functions in cell adhesion-mediated signaling and implicated in cell polarity.',NULL,NULL,NULL,NULL,NULL),(2492,'UniProt Function',NULL,3179,NULL,'(Microbial infection) Alpha-dystroglycan acts as a receptor for lassa virus and lymphocytic choriomeningitis virus glycoprotein and class C new-world arenaviruses (PubMed:16254364, PubMed:19324387, PubMed:17360738). Alpha-dystroglycan acts as a Schwann cell receptor for Mycobacterium leprae, the causative organism of leprosy, but only in the presence of the G-domain of LAMA2 (PubMed:9851927).',NULL,NULL,NULL,NULL,NULL),(2493,'UniProt Function',NULL,3180,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(2494,'UniProt Function',NULL,3181,NULL,'Essential for biosynthesis of the polyamines spermidine and spermine. Promotes maintenance and self-renewal of embryonic stem cells, by maintaining spermine levels.',NULL,NULL,NULL,NULL,NULL),(2495,'UniProt Function',NULL,3182,NULL,'Antagonizes DCUN1D1-mediated CUL1 neddylation by sequestering CUL1 at the cell membrane (PubMed:25349211). When overexpressed in transformed cells, may promote mesenchymal to epithelial-like changes and inhibit colony formation in soft agar (PubMed:25349211).',NULL,NULL,NULL,NULL,NULL),(2496,'UniProt Function',NULL,3183,NULL,'Decapping metalloenzyme that catalyzes the cleavage of the cap structure on mRNAs (PubMed:12417715, PubMed:12218187, PubMed:12923261, PubMed:21070968, PubMed:28002401). Removes the 7-methyl guanine cap structure from mRNA molecules, yielding a 5\'-phosphorylated mRNA fragment and 7m-GDP (PubMed:12486012, PubMed:12923261, PubMed:21070968, PubMed:28002401). Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay (PubMed:14527413). Plays a role in replication-dependent histone mRNA degradation (PubMed:18172165). Has higher activity towards mRNAs that lack a poly(A) tail (PubMed:21070968). Has no activity towards a cap structure lacking an RNA moiety (PubMed:21070968). The presence of a N(6)-methyladenosine methylation at the second transcribed position of mRNAs (N(6),2\'-O-dimethyladenosine cap; m6A(m)) provides resistance to DCP2-mediated decapping (PubMed:28002401). Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degration of their transcripts (PubMed:26098573).',NULL,NULL,NULL,NULL,NULL),(2497,'UniProt Function',NULL,3185,NULL,'Could have a dual role in dynein targeting and in ACTR1A/Arp1 subunit of dynactin pointed-end capping. Could be involved in ACTR1A pointed-end binding and in additional roles in linking dynein and dynactin to the cortical cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(2498,'UniProt Function',NULL,3186,NULL,'Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.',NULL,NULL,NULL,NULL,NULL),(2499,'UniProt Function',NULL,3187,NULL,'Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L-xylulose. Participates in the uronate cycle of glucose metabolism. May play a role in the water absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby preventing osmolytic stress from occurring in the renal tubules.',NULL,NULL,NULL,NULL,NULL),(2500,'UniProt Function',NULL,3188,NULL,'Required for DNA repair. Binds to DDB1 to form the UV-damaged DNA-binding protein complex (the UV-DDB complex). The UV-DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as the substrate recognition module for the DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB1-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1). The DDB1-CUL4-ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair. The DDB1-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. Isoform D1 and isoform D2 inhibit UV-damaged DNA repair.',NULL,NULL,NULL,NULL,NULL),(2501,'UniProt Function',NULL,3189,NULL,'Regulates cell growth, proliferation and survival via inhibition of the activity of the mammalian target of rapamycin complex 1 (mTORC1). Inhibition of mTORC1 is mediated by a pathway that involves DDIT4/REDD1, AKT1, the TSC1-TSC2 complex and the GTPase RHEB. Plays an important role in responses to cellular energy levels and cellular stress, including responses to hypoxia and DNA damage. Regulates p53/TP53-mediated apoptosis in response to DNA damage via its effect on mTORC1 activity. Its role in the response to hypoxia depends on the cell type; it mediates mTORC1 inhibition in fibroblasts and thymocytes, but not in hepatocytes (By similarity). Required for mTORC1-mediated defense against viral protein synthesis and virus replication (By similarity). Inhibits neuronal differentiation and neurite outgrowth mediated by NGF via its effect on mTORC1 activity. Required for normal neuron migration during embryonic brain development. Plays a role in neuronal cell death.',NULL,NULL,NULL,NULL,NULL),(2502,'UniProt Function',NULL,3190,NULL,'Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane.',NULL,NULL,NULL,NULL,NULL),(2503,'UniProt Function',NULL,3192,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(2504,'UniProt Function',NULL,3193,NULL,'ATP-dependent RNA helicase involved in mRNA export from the nucleus. Rather than unwinding RNA duplexes, DDX19B functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins.',NULL,NULL,NULL,NULL,NULL),(2505,'UniProt Function',NULL,3194,NULL,'Aspartic protease that mediates the cleavage of NFE2L1/NRF1 at \'Leu-104\', thereby promoting release of NFE2L1/NRF1 from the endoplasmic reticulum membrane (PubMed:27676298, PubMed:27528193). Ubiquitination of NFE2L1/NRF1 is a prerequisite for cleavage, suggesting that DDI2 specifically recognizes and binds ubiquitinated NFE2L1/NRF1 (PubMed:27528193).',NULL,NULL,NULL,NULL,NULL),(2506,'UniProt Function',NULL,3195,NULL,'Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation.',NULL,NULL,NULL,NULL,NULL),(2507,'UniProt Function',NULL,3196,NULL,'Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine.',NULL,NULL,NULL,NULL,NULL),(2508,'UniProt Function',NULL,3197,NULL,'Involved in apoptosis. May have a role in rRNA processing and mRNA splicing. Associates with pre-rRNA precursors.',NULL,NULL,NULL,NULL,NULL),(2509,'UniProt Function',NULL,3198,NULL,'ATP-dependent RNA helicase required during spermatogenesis (PubMed:10920202, PubMed:21034600). Required to repress transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Involved in the secondary piRNAs metabolic process, the production of piRNAs in fetal male germ cells through a ping-pong amplification cycle (By similarity). Required for PIWIL2 slicing-triggered piRNA biogenesis: helicase activity enables utilization of one of the slice cleavage fragments generated by PIWIL2 and processing these pre-piRNAs into piRNAs (By similarity).',NULL,NULL,NULL,NULL,NULL),(2510,'UniProt Function',NULL,3200,NULL,'Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include: 5\'-triphosphorylated ssRNA and dsRNA and short dsRNA (<1 kb in length). In addition to the 5\'-triphosphate moiety, blunt-end base pairing at the 5\'-end of the RNA is very essential. Overhangs at the non-triphosphorylated end of the dsRNA RNA have no major impact on its activity. A 3\'overhang at the 5\'triphosphate end decreases and any 5\'overhang at the 5\' triphosphate end abolishes its activity. Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylate interferon regulatory factors: IRF3 and IRF7 which in turn activate transcription of antiviral immunological genes, including interferons (IFNs); IFN-alpha and IFN-beta. Detects both positive and negative strand RNA viruses including members of the families Paramyxoviridae: Human respiratory syncytial virus and measles virus (MeV), Rhabdoviridae: vesicular stomatitis virus (VSV), Orthomyxoviridae: influenza A and B virus, Flaviviridae: Japanese encephalitis virus (JEV), hepatitis C virus (HCV), dengue virus (DENV) and west Nile virus (WNV). It also detects rotavirus and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome such as Epstein-Barr virus (EBV). Detects dsRNA produced from non-self dsDNA by RNA polymerase III, such as Epstein-Barr virus-encoded RNAs (EBERs). May play important roles in granulocyte production and differentiation, bacterial phagocytosis and in the regulation of cell migration.',NULL,NULL,NULL,NULL,NULL),(2511,'UniProt Function',NULL,3201,NULL,'Has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi. Protects blood cells against infection with HIV-1 (in vitro). Inhibits corticotropin (ACTH)-stimulated corticosterone production.',NULL,NULL,NULL,NULL,NULL),(2512,'UniProt Function',NULL,3203,NULL,'Guanine nucleotide exchange factor (GEF) activating RAB12. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB12 into its active GTP-bound form (PubMed:20937701). Regulates autophagy in response to starvation through RAB12 activation. Starvation leads to ULK1/2-dependent phosphorylation of Ser-472 and Ser-490, which in turn allows recruitment of 14-3-3 adapter proteins and leads to up-regulation of GEF activity towards RAB12 (By similarity). Also plays a role in protein transport from recycling endosomes to lysosomes, regulating, for instance, the degradation of the transferrin receptor and of the amino acid transporter PAT4 (PubMed:20937701). Starvation also induces phosphorylation at Tyr-858, which leads to up-regulated GEF activity and initiates autophagy (By similarity).',NULL,NULL,NULL,NULL,NULL),(2513,'UniProt Function',NULL,3204,NULL,'Promotes apoptosis of kidney glomerular podocytes. Podocytes are highly specialized cells essential to the ultrafiltration of blood, resulting in the extraction of urine and the retention of protein (By similarity).',NULL,NULL,NULL,NULL,NULL),(2514,'UniProt Function',NULL,3205,NULL,'Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine).',NULL,NULL,NULL,NULL,NULL),(2515,'UniProt Function',NULL,3206,NULL,'Guanine nucleotide exchange factor (GEF) for RAB35 that acts as a regulator of T-cell receptor (TCR) internalization in TH2 cells (PubMed:20154091, PubMed:20937701, PubMed:24520163, PubMed:26774822). Acts by promoting the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form (PubMed:20154091, PubMed:20937701). Plays a role in clathrin-mediated endocytosis (PubMed:20154091). Controls cytokine production in TH2 lymphocytes by controlling the rate of TCR internalization and routing to endosomes: acts by mediating clathrin-mediated endocytosis of TCR via its interaction with the adapter protein complex 2 (AP-2) and GEF activity (PubMed:26774822). Dysregulation leads to impaired TCR down-modulation and recycling, affecting cytokine production in TH2 cells (PubMed:26774822).',NULL,NULL,NULL,NULL,NULL),(2516,'UniProt Function',NULL,3208,NULL,'As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.',NULL,NULL,NULL,NULL,NULL),(2517,'UniProt Function',NULL,3209,NULL,'Protease which deconjugates SUMO1, SUMO2 and SUMO3 from some substrate proteins. Has isopeptidase but not SUMO-processing activity. Desumoylates ZBTB46 (By similarity).',NULL,NULL,NULL,NULL,NULL),(2518,'UniProt Function',NULL,3210,NULL,'Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria. May act as a ligand for C-C chemokine receptor CCR6. Can bind to both human and mouse CCR6 and induce chemotactic activity of CCR6-expressing cells (PubMed:20068036).',NULL,NULL,NULL,NULL,NULL),(2519,'UniProt Function',NULL,3211,NULL,'Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and induces apoptotic morphology.',NULL,NULL,NULL,NULL,NULL),(2520,'UniProt Function',NULL,3212,NULL,'Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins.',NULL,NULL,NULL,NULL,NULL),(2521,'UniProt Function',NULL,3213,NULL,'Has antibacterial activity (PubMed:12600824). Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:23938203).',NULL,NULL,NULL,NULL,NULL),(2522,'UniProt Function',NULL,3216,NULL,'Antimicrobial host-defense peptide. Has an antiplasmodial activity.',NULL,NULL,NULL,NULL,NULL),(2523,'UniProt Function',NULL,3217,NULL,'Binds to disheveled (Dvl) and Rho, and mediates Wnt-induced Dvl-Rho complex formation. May play a role as a scaffolding protein to recruit Rho-GDP and Rho-GEF, thereby enhancing Rho-GTP formation. Can direct nucleation and elongation of new actin filaments. Involved in building functional cilia (PubMed:16630611, PubMed:17482208). Involved in the organization of the subapical actin network in multiciliated epithelial cells (By similarity). Together with DAAM2, required for myocardial maturation and sarcomere assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(2524,'UniProt Function',NULL,3218,NULL,'Involved in regulation of intracellular signaling pathways during development. Negatively regulates the Nodal signaling pathway, possibly by promoting the lysosomal degradation of Nodal receptors, such as TGFBR1. May be involved in control of the morphogenetic behavior of kidney ureteric bud cells by keeping cells epithelial and restraining their mesenchymal character. May play an inhibitory role in the re-epithelialization of skin wounds by attenuating TGF-beta signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(2525,'UniProt Function',NULL,3219,NULL,'Seems to play a role in the correct specification of the left-right axis. May antagonize NODAL and BMP4 signaling. Cystine knot-containing proteins play important roles during development, organogenesis, tissue growth and differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(2526,'UniProt Function',NULL,3220,NULL,'Seems to activate D-amino acid oxidase.',NULL,NULL,NULL,NULL,NULL),(2527,'UniProt Function',NULL,3221,NULL,'E3 ubiquitin-protein ligase which mediates \'Lys-48\'-linked ubiquitination of STAT2 and induces its proteosomal degradation thereby negatively regulating type-I-interferon signaling.',NULL,NULL,NULL,NULL,NULL),(2528,'UniProt Function',NULL,3222,NULL,'May play a role in the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. May remove the 7-methyl guanine cap structure from mRNA molecules, yielding a 5\'-phosphorylated mRNA fragment and 7m-GDP (By similarity).',NULL,NULL,NULL,NULL,NULL),(2529,'UniProt Function',NULL,3223,NULL,'In the process of mRNA degradation, plays a role in mRNA decapping (PubMed:16364915). Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degration of their transcripts (PubMed:26098573).',NULL,NULL,NULL,NULL,NULL),(2530,'UniProt Function',NULL,3224,NULL,'May play a role in later stages of the processing of the pre-ribosomal particles leading to mature 60S ribosomal subunits. Has intrinsic ATPase activity.',NULL,NULL,NULL,NULL,NULL),(2531,'UniProt Function',NULL,3225,NULL,'Highly glycosylated atypical beta-defensin involved in several aspects of sperm function. Facilitates sperm transport in the female reproductive tract and contributes to sperm protection against immunodetection; both functions are probably implicating the negative surface charge provided by its O-linked oligosaccharides in the sperm glycocalyx. Involved in binding of sperm to oviductal epithelial cells to form a sperm reservoir until ovulation. Release from the sperm surface during capacitation and ovaluation by an elevation of oviductal fluid pH is unmasking other surface components and allows sperm to penetrate the cumulus matrix and bind to the zona pellucida of the oocyte (By similarity). In vitro has antimicrobial activity and may inhibit LPS-mediated inflammation (PubMed:19373462, PubMed:23229569).',NULL,NULL,NULL,NULL,NULL),(2532,'UniProt Function',NULL,3226,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(2533,'UniProt Function',NULL,3228,NULL,'May act as a B-cell-associated adapter that regulates B-cell antigen receptor (BCR)-signaling downstream of PI3K.',NULL,NULL,NULL,NULL,NULL),(2534,'UniProt Function',NULL,3229,NULL,'RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3\'-UTR of mRNAs and regulating their translation. Promotes germ-cell progression to meiosis and formation of haploid germ cells.',NULL,NULL,NULL,NULL,NULL),(2535,'UniProt Function',NULL,3230,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(2536,'UniProt Function',NULL,3231,NULL,'May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(2537,'UniProt Function',NULL,3232,NULL,'May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(2538,'UniProt Function',NULL,3233,NULL,'Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes.',NULL,NULL,NULL,NULL,NULL),(2539,'UniProt Function',NULL,3234,NULL,'Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. Removes the 7-methyl guanine cap structure from mRNA molecules, yielding a 5\'-phosphorylated mRNA fragment and 7m-GDP. Contributes to the transactivation of target genes after stimulation by TGFB1.',NULL,NULL,NULL,NULL,NULL),(2540,'UniProt Function',NULL,3235,NULL,'Binds with and transactivates the corticotropin-releasing hormone (CRH) promoter.',NULL,NULL,NULL,NULL,NULL),(2541,'UniProt Function',NULL,3236,NULL,'Catalyzes the first and rate-limiting step of polyamine biosynthesis that converts ornithine into putrescine, which is the precursor for the polyamines, spermidine and spermine. Polyamines are essential for cell proliferation and are implicated in cellular processes, ranging from DNA replication to apoptosis.',NULL,NULL,NULL,NULL,NULL),(2542,'UniProt Function',NULL,3237,NULL,'Together with dynein may be involved in spindle assembly and cytokinesis.',NULL,NULL,NULL,NULL,NULL),(2543,'UniProt Function',NULL,3238,NULL,'Tyrosine kinase that functions as cell surface receptor for fibrillar collagen and regulates cell attachment to the extracellular matrix, remodeling of the extracellular matrix, cell migration, differentiation, survival and cell proliferation. Collagen binding triggers a signaling pathway that involves SRC and leads to the activation of MAP kinases. Regulates remodeling of the extracellular matrix by up-regulation of the matrix metalloproteinases MMP2, MMP7 and MMP9, and thereby facilitates cell migration and wound healing. Required for normal blastocyst implantation during pregnancy, for normal mammary gland differentiation and normal lactation. Required for normal ear morphology and normal hearing (By similarity). Promotes smooth muscle cell migration, and thereby contributes to arterial wound healing. Also plays a role in tumor cell invasion. Phosphorylates PTPN11.',NULL,NULL,NULL,NULL,NULL),(2544,'UniProt Function',NULL,3239,NULL,'Probable ATP-dependent RNA helicase. Is required during post-transcriptional gene expression. May be involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(2545,'UniProt Function',NULL,3240,NULL,'Membrane-cytoskeleton-associated protein with F-actin-binding activity that induces F-actin bundles formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1, and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties. Plays also a role as a modulator of actin dynamics in fibroblasts; acts as a negative regulator of the RhoA activation pathway. In platelets, functions as a regulator of internal calcium mobilization across the dense tubular system that affects platelet granule secretion pathways and aggregation. Also required for the formation of a diverse set of cell protrusions, such as filopodia and lamellipodia, necessary for platelet cell spreading, motility and migration. Acts as a tumor suppressor and inhibits malignant cell transformation.',NULL,NULL,NULL,NULL,NULL),(2546,'UniProt Function',NULL,3241,NULL,'Guanine nucleotide exchange factor (GEF) regulating clathrin-mediated endocytosis through RAB35 activation. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. Regulates clathrin-mediated endocytosis of synaptic vesicles and mediates exit from early endosomes (PubMed:20154091, PubMed:20937701). Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P (By similarity).',NULL,NULL,NULL,NULL,NULL),(2547,'UniProt Function',NULL,3242,NULL,'Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.',NULL,NULL,NULL,NULL,NULL),(2548,'UniProt Function',NULL,3243,NULL,'Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.',NULL,NULL,NULL,NULL,NULL),(2549,'UniProt Function',NULL,3247,NULL,'Shows moderate inhibition of cathepsin B but is not active against cathepsin C.',NULL,NULL,NULL,NULL,NULL),(2550,'UniProt Function',NULL,3248,NULL,'Negative regulator of autophagy. Involved in mediating interferon-gamma-induced cell death.',NULL,NULL,NULL,NULL,NULL),(2551,'UniProt Function',NULL,3249,NULL,'Modulates cytoplasmic dynein binding to an organelle, and plays a role in prometaphase chromosome alignment and spindle organization during mitosis. Involved in anchoring microtubules to centrosomes. May play a role in synapse formation during brain development.',NULL,NULL,NULL,NULL,NULL),(2552,'UniProt Function',NULL,3250,NULL,'Supplies the nucleotide substrate for thymidylate synthetase.',NULL,NULL,NULL,NULL,NULL),(2553,'UniProt Function',NULL,3251,NULL,'Hydrolyzes deoxynucleoside triphosphates (dNTPs) to the corresponding nucleoside monophosphates. Has a strong preference for dCTP and its analogs including 5-iodo-dCTP and 5-methyl-dCTP for which it may even have a higher efficiency. May protect DNA or RNA against the incorporation of these genotoxic nucleotide analogs through their catabolism.',NULL,NULL,NULL,NULL,NULL),(2554,'UniProt Function',NULL,3252,NULL,'Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).',NULL,NULL,NULL,NULL,NULL),(2555,'UniProt Function',NULL,3254,NULL,'Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. May activate both the EGFR itself and downstream RAS/MAPK and PI3K/AKT/TOR signaling cascades.',NULL,NULL,NULL,NULL,NULL),(2556,'UniProt Function',NULL,3256,NULL,'As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity.',NULL,NULL,NULL,NULL,NULL),(2557,'UniProt Function',NULL,3257,NULL,'Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration.',NULL,NULL,NULL,NULL,NULL),(2558,'UniProt Function',NULL,3258,NULL,'Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103.',NULL,NULL,NULL,NULL,NULL),(2559,'UniProt Function',NULL,3259,NULL,'This protein strongly inhibits papain and ficin, partially inhibits stem bromelain and bovine cathepsin C, but does not inhibit porcine cathepsin B or clostripain. Papain is inhibited non-competitively.',NULL,NULL,NULL,NULL,NULL),(2560,'UniProt Function',NULL,3260,NULL,'Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity.',NULL,NULL,NULL,NULL,NULL),(2561,'UniProt Function',NULL,3262,NULL,'Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator of SIX1, SIX6 and probably SIX5. Corepression of precursor cell proliferation in myoblasts by SIX1 is switched to coactivation through recruitment of EYA3 to the SIX1-DACH1 complex. Transcriptional activation seems also to involve association of CREBBP. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter (By similarity). Inhibits TGF-beta signaling through interaction with SMAD4 and NCOR1. Binds to chromatin DNA via its DACHbox-N domain (By similarity).',NULL,NULL,NULL,NULL,NULL),(2562,'UniProt Function',NULL,3265,NULL,'May play a role in MAPK signaling.',NULL,NULL,NULL,NULL,NULL),(2563,'UniProt Function',NULL,3266,NULL,'May play a role in MAPK signaling.',NULL,NULL,NULL,NULL,NULL),(2564,'UniProt Function',NULL,3268,NULL,'Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins.',NULL,NULL,NULL,NULL,NULL),(2565,'UniProt Function',NULL,3269,NULL,'Thiol protease inhibitor.',NULL,NULL,NULL,NULL,NULL),(2566,'UniProt Function',NULL,3270,NULL,'Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative bacteria P.aeruginosa and E.coli and the yeast C.albicans. Kills multiresistant S.aureus and vancomycin-resistant E.faecium. No significant hemolytic activity was observed.',NULL,NULL,NULL,NULL,NULL),(2567,'UniProt Function',NULL,3271,NULL,'Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.',NULL,NULL,NULL,NULL,NULL),(2568,'UniProt Function',NULL,3272,NULL,'May be involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins.',NULL,NULL,NULL,NULL,NULL),(2569,'UniProt Function',NULL,3273,NULL,'Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell deaths signal, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Phosphorylates PIN1 resulting in inhibition of its catalytic activity, nuclear localization, and cellular function. Phosphorylates TPM1, enhancing stress fiber formation in endothelial cells. Phosphorylates STX1A and significantly decreases its binding to STXBP1. Phosphorylates PRKD1 and regulates JNK signaling by binding and activating PRKD1 under oxidative stress. Phosphorylates BECN1, reducing its interaction with BCL2 and BCL2L1 and promoting the induction of autophagy. Phosphorylates TSC2, disrupting the TSC1-TSC2 complex and stimulating mTORC1 activity in a growth factor-dependent pathway. Phosphorylates RPS6, MYL9 and DAPK3. Acts as a signaling amplifier of NMDA receptors at extrasynaptic sites for mediating brain damage in stroke. Cerebral ischemia recruits DAPK1 into the NMDA receptor complex and it phosphorylates GRINB at Ser-1303 inducing injurious Ca(2+) influx through NMDA receptor channels, resulting in an irreversible neuronal death. Required together with DAPK3 for phosphorylation of RPL13A upon interferon-gamma activation which is causing RPL13A involvement in transcript-selective translation inhibition.',NULL,NULL,NULL,NULL,NULL),(2570,'UniProt Function',NULL,3273,NULL,'Isoform 2 cannot induce apoptosis but can induce membrane blebbing.',NULL,NULL,NULL,NULL,NULL),(2571,'UniProt Function',NULL,3274,NULL,'May have a protective function during conditions of oxidative stress. May be involved in intracellular oxygen storage or transfer.',NULL,NULL,NULL,NULL,NULL),(2572,'UniProt Function',NULL,3275,NULL,'Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.',NULL,NULL,NULL,NULL,NULL),(2573,'UniProt Function',NULL,3276,NULL,'Putative NADP-dependent oxidoreductase.',NULL,NULL,NULL,NULL,NULL),(2574,'UniProt Function',NULL,3277,NULL,'Has antibacterial activity (Probable). Upon stimulation with lipoteichoic acid, promotes cytokines and chemokines production and secretion (PubMed:26649771).',NULL,NULL,NULL,NULL,NULL),(2575,'UniProt Function',NULL,3278,NULL,'Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins.',NULL,NULL,NULL,NULL,NULL),(2576,'UniProt Function',NULL,3279,NULL,'Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins (By similarity). Required during spermatogenesis for sperm head elongation and acrosome formation.',NULL,NULL,NULL,NULL,NULL),(2577,'UniProt Function',NULL,3280,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(2578,'UniProt Function',NULL,3281,NULL,'Has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(2579,'UniProt Function',NULL,3282,NULL,'Acts both as a substrate recognition component of E3 ubiquitin-protein ligase complexes and as an atypical serine/threonine-protein kinase, playing key roles in various processes such as cell cycle, telomerase regulation and histone modification. Probable substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, named CUL4A-RBX1-DDB1-DCAF1/VPRBP complex, which mediates ubiquitination and proteasome-dependent degradation of proteins such as NF2. Involved in the turnover of methylated proteins: recognizes and binds methylated proteins via its chromo domain, leading to ubiquitination of target proteins by the RBX1-DDB1-DCAF1/VPRBP complex (PubMed:23063525). The CUL4A-RBX1-DDB1-DCAF1/VPRBP complex is also involved in B-cell development: DCAF1 is recruited by RAG1 to ubiquitinate proteins, leading to limit error-prone repair during V(D)J recombination. Also part of the EDVP complex, an E3 ligase complex that mediates ubiquitination of proteins such as TERT, leading to TERT degradation and telomerase inhibition (PubMed:23362280). Also acts as an atypical serine/threonine-protein kinase that specifically mediates phosphorylation of \'Thr-120\' of histone H2A (H2AT120ph) in a nucleosomal context, thereby repressing transcription. H2AT120ph is present in the regulatory region of many tumor suppresor genes, down-regulates their transcription and is present at high level in a number of tumors (PubMed:24140421). Involved in JNK-mediated apoptosis during cell competition process via its interaction with LLGL1 and LLGL2 (PubMed:20644714).',NULL,NULL,NULL,NULL,NULL),(2580,'UniProt Function',NULL,3282,NULL,'(Microbial infection) In case of infection by HIV-1 virus, it is recruited by HIV-1 Vpr in order to hijack the CUL4A-RBX1-DDB1-DCAF1/VPRBP function leading to arrest the cell cycle in G2 phase, and also to protect the viral protein from proteasomal degradation by another E3 ubiquitin ligase. The HIV-1 Vpr protein hijacks the CUL4A-RBX1-DDB1-DCAF1/VPRBP complex to promote ubiquitination and degradation of proteins such as TERT and ZIP/ZGPAT.',NULL,NULL,NULL,NULL,NULL),(2581,'UniProt Function',NULL,3282,NULL,'(Microbial infection) In case of infection by HIV-2 virus, it is recruited by HIV-2 Vpx in order to hijack the CUL4A-RBX1-DDB1-DCAF1/VPRBP function leading to enhanced efficiency of macrophage infection and promotion of the replication of cognate primate lentiviruses in cells of monocyte/macrophage lineage.',NULL,NULL,NULL,NULL,NULL),(2582,'UniProt Function',NULL,3284,NULL,'Ligand-dependent coactivator of nuclear receptors. Enhance transcriptional activity of the nuclear receptors NR3C1 and AR. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(2583,'UniProt Function',NULL,3286,NULL,'Involved in craniofacial development. Acts upstream of the EDN1 pathway and is required for formation of the upper jaw equivalent, the palatoquadrate. The activity required for EDN1 pathway function differs between the first and second arches (By similarity). Associates with DIAPH1 and controls GLI1 transcriptional activity. Could be involved in normal and disease skin development. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(2584,'UniProt Function',NULL,3287,NULL,'May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(2585,'UniProt Function',NULL,3288,NULL,'Possible role in ribosomal RNA processing (By similarity). May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(2586,'UniProt Function',NULL,3289,NULL,'May be involved in ubiquitination and degradation through a DBB1-CUL4 E3 protein-ubiquitin ligase.',NULL,NULL,NULL,NULL,NULL),(2587,'UniProt Function',NULL,3290,NULL,'DCD-1 displays antimicrobial activity thereby limiting skin infection by potential pathogens in the first few hours after bacterial colonization. Highly effective against E.coli, E.faecalis, S.aureus and C.albicans. Optimal pH and salt concentration resemble the conditions in sweat. Also exhibits proteolytic activity, cleaving on the C-terminal side of Arg and, to a lesser extent, Lys residues (PubMed:17448443).',NULL,NULL,NULL,NULL,NULL),(2588,'UniProt Function',NULL,3290,NULL,'Survival-promoting peptide promotes survival of neurons and displays phosphatase activity. It may bind IgG.',NULL,NULL,NULL,NULL,NULL),(2589,'UniProt Function',NULL,3291,NULL,'Catalyzes the production of GABA.',NULL,NULL,NULL,NULL,NULL),(2590,'UniProt Function',NULL,3293,NULL,'Part of the dynein complex of respiratory cilia.',NULL,NULL,NULL,NULL,NULL),(2591,'UniProt Function',NULL,3295,NULL,'Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7521911, PubMed:8123008, PubMed:20477940, PubMed:26690923, PubMed:28032905, PubMed:28424515). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:20477940). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:20477940). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity).',NULL,NULL,NULL,NULL,NULL),(2592,'UniProt Function',NULL,3296,NULL,'Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7791878). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (By similarity). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (Probable).',NULL,NULL,NULL,NULL,NULL),(2593,'UniProt Function',NULL,3297,NULL,'Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7521911, PubMed:14506254, PubMed:15265858, PubMed:26690923). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:14506254). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:14506254). Essential for the rapid removal of released glutamate from the synaptic cleft, and for terminating the postsynaptic action of glutamate (By similarity).',NULL,NULL,NULL,NULL,NULL),(2594,'UniProt Function',NULL,3298,NULL,'Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.',NULL,NULL,NULL,NULL,NULL),(2595,'UniProt Function',NULL,3299,NULL,'Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA.',NULL,NULL,NULL,NULL,NULL),(2596,'UniProt Function',NULL,3300,NULL,'Decarboxylases ethylmalonyl-CoA decarboxylase, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading. Also has methylmalonyl-CoA decarboxylase activity at lower level.',NULL,NULL,NULL,NULL,NULL),(2597,'UniProt Function',NULL,3301,NULL,'The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein (GCSH).',NULL,NULL,NULL,NULL,NULL),(2598,'UniProt Function',NULL,3302,NULL,'Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity.',NULL,NULL,NULL,NULL,NULL),(2599,'UniProt Function',NULL,3303,NULL,'Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role in ERAD and other enhanced proteolyis (PubMed:15496406). Promotes proteasome dissociation under oxidative stress (By similarity).',NULL,NULL,NULL,NULL,NULL),(2600,'UniProt Function',NULL,3304,NULL,'Promotes matrix assembly and cell adhesiveness.',NULL,NULL,NULL,NULL,NULL),(2601,'UniProt Function',NULL,3305,NULL,'Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal trafficking.',NULL,NULL,NULL,NULL,NULL),(2602,'UniProt Function',NULL,3306,NULL,'Endothelins are endothelium-derived vasoconstrictor peptides.',NULL,NULL,NULL,NULL,NULL),(2603,'UniProt Function',NULL,3307,NULL,'Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates \'Lys-9\' and \'Lys-27\' of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes \'Lys-26\' trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 \'Lys-27\', whereas H3 \'Lys-27\' recognition has the opposite effect, enabling the propagation of this repressive mark. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A.',NULL,NULL,NULL,NULL,NULL),(2604,'UniProt Function',NULL,3311,NULL,'Has glycerophosphoinositol phosphodiesterase activity. Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Has little or no activity towards glycerophosphocholine. GDE1 activity can be modulated by G-protein signaling pathways (By similarity).',NULL,NULL,NULL,NULL,NULL),(2605,'UniProt Function',NULL,3312,NULL,'Isoform 1: EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP, regenerating EF-1-alpha for another round of transfer of aminoacyl-tRNAs to the ribosome.',NULL,NULL,NULL,NULL,NULL),(2606,'UniProt Function',NULL,3312,NULL,'Isoform 2: Regulates induction of heat-shock-responsive genes through association with heat shock transcription factors and direct DNA-binding at heat shock promoter elements (HSE).',NULL,NULL,NULL,NULL,NULL),(2607,'UniProt Function',NULL,3313,NULL,'Growth factor involved in osteogenesis and adipogenesis. Plays an inhibitory role in the process of osteoblast differentiation via SMAD2/3 pathway. Plays an inhibitory role in the process of adipogenesis.',NULL,NULL,NULL,NULL,NULL),(2608,'UniProt Function',NULL,3315,NULL,'May play an active role in the motor area of the primate neocortex.',NULL,NULL,NULL,NULL,NULL),(2609,'UniProt Function',NULL,3316,NULL,'Plays a role in store-operated Ca(2+) entry (SOCE).',NULL,NULL,NULL,NULL,NULL),(2610,'UniProt Function',NULL,3317,NULL,'Ca(2+)-binding protein that plays a key role in store-operated Ca(2+) entry (SOCE) in T-cells by regulating CRAC channel activation. Acts as a cytoplasmic calcium-sensor that facilitates the clustering of ORAI1 and STIM1 at the junctional regions between the plasma membrane and the endoplasmic reticulum upon low Ca(2+) concentration. It thereby regulates CRAC channel activation, including translocation and clustering of ORAI1 and STIM1. Upon increase of cytoplasmic Ca(2+) resulting from opening of CRAC channels, dissociates from ORAI1 and STIM1, thereby destabilizing the ORAI1-STIM1 complex.',NULL,NULL,NULL,NULL,NULL),(2611,'UniProt Function',NULL,3318,NULL,'Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex.',NULL,NULL,NULL,NULL,NULL),(2612,'UniProt Function',NULL,3319,NULL,'Acts specifically as a negative regulator of skeletal muscle growth.',NULL,NULL,NULL,NULL,NULL),(2613,'UniProt Function',NULL,3320,NULL,'Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Retains Rho proteins such as CDC42, RAC1 and RHOA in an inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. Through the modulation of Rho proteins, may play a role in cell motility regulation. In glioma cells, inhibits cell migration and invasion by mediating the signals of SEMA5A and PLXNB3 that lead to inactivation of RAC1.',NULL,NULL,NULL,NULL,NULL),(2614,'UniProt Function',NULL,3321,NULL,'Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them (PubMed:8356058, PubMed:7512369). Regulates reorganization of the actin cytoskeleton mediated by Rho family members (PubMed:8262133).',NULL,NULL,NULL,NULL,NULL),(2615,'UniProt Function',NULL,3322,NULL,'Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(2616,'UniProt Function',NULL,3323,NULL,'The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus.',NULL,NULL,NULL,NULL,NULL),(2617,'UniProt Function',NULL,3324,NULL,'May regulate B-cell receptor (BCR)-induced immature and primary B-cell apoptosis. Plays a role as negative regulator of the canonical NF-kappa-B-activating branch. Controls spontaneous apoptosis through the regulation of BCL2L1 abundance.',NULL,NULL,NULL,NULL,NULL),(2618,'UniProt Function',NULL,3325,NULL,'Involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Has low intrinsic GTPase activity. GTPase activity is increased by contact with 60S ribosome subunits.',NULL,NULL,NULL,NULL,NULL),(2619,'UniProt Function',NULL,3326,NULL,'Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at \'Lys-79\'.',NULL,NULL,NULL,NULL,NULL),(2620,'UniProt Function',NULL,3327,NULL,'Protein-lysine methyltransferase that selectively methylates EEF1A1 and EEF1A2 at \'Lys-165\' in an aminoacyl-tRNA and GTP-dependent manner. EEF1A1 methylation by EEF1AKMT3 is dynamic as well as inducible by stress conditions, such as ER-stress, and plays a regulatory role on mRNA translation.',NULL,NULL,NULL,NULL,NULL),(2621,'UniProt Function',NULL,3328,NULL,'The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus.',NULL,NULL,NULL,NULL,NULL),(2622,'UniProt Function',NULL,3329,NULL,'Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC). It is degraded during the mitotic phase of the cell cycle. Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle.',NULL,NULL,NULL,NULL,NULL),(2623,'UniProt Function',NULL,3329,NULL,'Inhibits the transcriptional activity of a subset of Hox proteins, enrolling them in cell proliferative control.',NULL,NULL,NULL,NULL,NULL),(2624,'UniProt Function',NULL,3330,NULL,'Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. May play a pivotal role in forebrain function. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity).',NULL,NULL,NULL,NULL,NULL),(2625,'UniProt Function',NULL,3330,NULL,'(Microbial infection) Acts as a receptor for nipah virus and hendra virus.',NULL,NULL,NULL,NULL,NULL),(2626,'UniProt Function',NULL,3331,NULL,'Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1.',NULL,NULL,NULL,NULL,NULL),(2627,'UniProt Function',NULL,3332,NULL,'Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor (By similarity).',NULL,NULL,NULL,NULL,NULL),(2628,'UniProt Function',NULL,3333,NULL,'Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor.',NULL,NULL,NULL,NULL,NULL),(2629,'UniProt Function',NULL,3333,NULL,'Isoform 2: participates in NRTN-induced \'Ser-727\' phosphorylation of STAT3.',NULL,NULL,NULL,NULL,NULL),(2630,'UniProt Function',NULL,3334,NULL,'Receptor for the glial cell line-derived neurotrophic factor, ARTN (artemin). Mediates the artemin-induced autophosphorylation and activation of the RET receptor tyrosine kinase.',NULL,NULL,NULL,NULL,NULL),(2631,'UniProt Function',NULL,3335,NULL,'Receptor for persephin. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor. May be important in C-cell development and, in the postnatal development of the adrenal medulla.',NULL,NULL,NULL,NULL,NULL),(2632,'UniProt Function',NULL,3336,NULL,'Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine.',NULL,NULL,NULL,NULL,NULL),(2633,'UniProt Function',NULL,3337,NULL,'Required for proper function of the olfactory system. May be involved in establishing the acuity of olfactory sensory signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(2634,'UniProt Function',NULL,3341,NULL,'Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome.',NULL,NULL,NULL,NULL,NULL),(2635,'UniProt Function',NULL,3342,NULL,'Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione conjugates, and other gamma-glutamyl compounds. The metabolism of glutathione releases free glutamate and the dipeptide cysteinyl-glycine, which is hydrolyzed to cysteine and glycine by dipeptidases. In the presence of high concentrations of dipeptides and some amino acids, can also catalyze a transpeptidation reaction, transferring the gamma-glutamyl moiety to an acceptor amino acid to form a new gamma-glutamyl compound. Initiates extracellular glutathione (GSH) breakdown, provides cells with a local cysteine supply and contributes to maintain intracellular GSH level. It is part of the cell antioxidant defense mechanism. Isoform 3 seems to be inactive.',NULL,NULL,NULL,NULL,NULL),(2636,'UniProt Function',NULL,3343,NULL,'Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+).',NULL,NULL,NULL,NULL,NULL),(2637,'UniProt Function',NULL,3344,NULL,'Pseudouridylate synthase that catalyzes pseudouridylation of RNAs.',NULL,NULL,NULL,NULL,NULL),(2638,'UniProt Function',NULL,3345,NULL,'Pseudouridylate synthase that catalyzes pseudouridylation of RNAs (PubMed:28073919, PubMed:29628141). Acts as a regulator of protein synthesis in embryonic stem cells by mediating pseudouridylation of RNA fragments derived from tRNAs (tRFs): pseudouridylated tRFs inhibit translation by targeting the translation initiation complex (PubMed:29628141). Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5\'-UGUAG-3\' (PubMed:28073919). In addition to mRNAs and tRNAs, binds other types of RNAs, such as snRNAs, Y RNAs and vault RNAs, suggesting that it can catalyze pseudouridylation of many RNA types (PubMed:29628141).',NULL,NULL,NULL,NULL,NULL),(2639,'UniProt Function',NULL,3346,NULL,'Isoform PMR1: Endonuclease selectively degrading some target mRNAs while they are engaged by translating ribosomes, among which albumin and beta-globin mRNAs.',NULL,NULL,NULL,NULL,NULL),(2640,'UniProt Function',NULL,3347,NULL,'Displays low peroxidase activity and is likely to participate in H(2)O(2) metabolism and peroxidative reactions in the cardiovascular system. Plays a role in extracellular matrix formation.',NULL,NULL,NULL,NULL,NULL),(2641,'UniProt Function',NULL,3348,NULL,'Probable oxidoreductase.',NULL,NULL,NULL,NULL,NULL),(2642,'UniProt Function',NULL,3349,NULL,'Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.',NULL,NULL,NULL,NULL,NULL),(2643,'UniProt Function',NULL,3350,NULL,'This enzyme is involved in the de novo synthesis of CTP, a precursor of DNA, RNA and phospholipids. Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as a source of nitrogen. This enzyme and its product, CTP, play a crucial role in the proliferation of activated lymphocytes and therefore in immunity.',NULL,NULL,NULL,NULL,NULL),(2644,'UniProt Function',NULL,3351,NULL,'Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides.',NULL,NULL,NULL,NULL,NULL),(2645,'UniProt Function',NULL,3352,NULL,'H2A.Z-specific chromatin binding protein which may play an important role in the neural crest stem cell migration and differentiation during early development. Also required for proper mitosis progression.',NULL,NULL,NULL,NULL,NULL),(2646,'UniProt Function',NULL,3353,NULL,'May be involved in peroxisomal proliferation and may regulate peroxisomes division (PubMed:9792670). May mediate binding of coatomer proteins to the peroxisomal membrane (By similarity). Promotes membrane protrusion and elongation on the peroxisomal surface (PubMed:20826455).',NULL,NULL,NULL,NULL,NULL),(2647,'UniProt Function',NULL,3355,NULL,'Associates with PYCARD/ASC and modulates its ability to collaborate with MEFV/pyrin and NLRP3/cryopyrin in NF-kappa-B and pro-caspase-1 activation. Suppresses kinase activity of NF-kappa-B inhibitor kinase (IKK) complex, expression of NF-kappa-B inducible genes and inhibits NF-kappa-B activation by cytokines and LPS.',NULL,NULL,NULL,NULL,NULL),(2648,'UniProt Function',NULL,3356,NULL,'May play a role in innate immunity by disrupting the interaction between PYCARD and NLRP3, thereby regulating the NLRP3 inflammasome (PubMed:17339483, PubMed:17178784). May also inhibit NF-kappa-B signaling distally by affecting the nuclear accumulation of RELA (PubMed:17339483, PubMed:24871464).',NULL,NULL,NULL,NULL,NULL),(2649,'UniProt Function',NULL,3357,NULL,'May function as a negative regulator of NF-kappa-B by preventing RELA/p65 phosphorylation at \'Ser-536\', thereby inhibiting its transcriptional activity. Through NF-kappa-B regulation may control cytokine release upon Toll-like receptors activation and therefore play a role in modulation of innate immunity. May also play a role in cell cycle progression and apoptotic process.',NULL,NULL,NULL,NULL,NULL),(2650,'UniProt Function',NULL,3358,NULL,'Functions as an inhibitor of DNA virus-induced activation of AIM2-like receptors (ALR) inflammasome through interaction with AIM2.',NULL,NULL,NULL,NULL,NULL),(2651,'UniProt Function',NULL,3359,NULL,'Key regulator of the exon junction complex (EJC), a multiprotein complex that associates immediately upstream of the exon-exon junction on mRNAs and serves as a positional landmark for the intron exon structure of genes and directs post-transcriptional processes in the cytoplasm such as mRNA export, nonsense-mediated mRNA decay (NMD) or translation. Acts as an EJC disassembly factor, allowing translation-dependent EJC removal and recycling by disrupting mature EJC from spliced mRNAs. Its association with the 40S ribosomal subunit probably prevents a translation-independent disassembly of the EJC from spliced mRNAs, by restricting its activity to mRNAs that have been translated. Interferes with NMD and enhances translation of spliced mRNAs, probably by antagonizing EJC functions. May bind RNA; the relevance of RNA-binding remains unclear in vivo, RNA-binding was detected by PubMed:14968132, while PubMed:19410547 did not detect RNA-binding activity independently of the EJC.',NULL,NULL,NULL,NULL,NULL),(2652,'UniProt Function',NULL,3360,NULL,'This protein is a \"fusion\" protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase).',NULL,NULL,NULL,NULL,NULL),(2653,'UniProt Function',NULL,3361,NULL,'Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.',NULL,NULL,NULL,NULL,NULL),(2654,'UniProt Function',NULL,3362,NULL,'Involved in signal transduction through the Wnt pathway.',NULL,NULL,NULL,NULL,NULL),(2655,'UniProt Function',NULL,3364,NULL,'Seems to be involved in pore-forming activity and may contribute to the unspecific permeability of the peroxisomal membrane.',NULL,NULL,NULL,NULL,NULL),(2656,'UniProt Function',NULL,3366,NULL,'Binds to and modulates brain Na,K-ATPase subunits ATP1B1 and ATP1B3 and may thereby participate in the regulation of electrical excitability and synaptic transmission. May not display kinase activity.',NULL,NULL,NULL,NULL,NULL),(2657,'UniProt Function',NULL,3367,NULL,'Involved in peroxisomal proliferation (PubMed:9792670). May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane (PubMed:12618434). Promotes membrane protrusion and elongation on the peroxisomal surface (PubMed:20826455).',NULL,NULL,NULL,NULL,NULL),(2658,'UniProt Function',NULL,3368,NULL,'Promotes membrane protrusion and elongation on the peroxisomal surface.',NULL,NULL,NULL,NULL,NULL),(2659,'UniProt Function',NULL,3369,NULL,'Catalyzes the reduction of prostaglandin-ethanolamide H(2) (prostamide H(2)) to prostamide F(2alpha) with NADPH as proton donor. Also able to reduce prostaglandin H(2) to prostaglandin F(2alpha) (By similarity).',NULL,NULL,NULL,NULL,NULL),(2660,'UniProt Function',NULL,3370,NULL,'Involved in cellular response to oxidative stress.',NULL,NULL,NULL,NULL,NULL),(2661,'UniProt Function',NULL,3373,NULL,'This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This subunit, together with cytochrome b, binds to ubiquinone.',NULL,NULL,NULL,NULL,NULL),(2662,'UniProt Function',NULL,3374,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1.',NULL,NULL,NULL,NULL,NULL),(2663,'UniProt Function',NULL,3375,NULL,'May be involved in the regulation of cell proliferation. Has a cell-proliferation inhibition activity in vitro.',NULL,NULL,NULL,NULL,NULL),(2664,'UniProt Function',NULL,3375,NULL,'May act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits nicotine-induced signaling probably implicating alpha-3:beta-2- or alpha-7-containing nAChRs.',NULL,NULL,NULL,NULL,NULL),(2665,'UniProt Function',NULL,3376,NULL,'Guanine nucleotide exchange factor for ARF6.',NULL,NULL,NULL,NULL,NULL),(2666,'UniProt Function',NULL,3377,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.',NULL,NULL,NULL,NULL,NULL),(2667,'UniProt Function',NULL,3378,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.',NULL,NULL,NULL,NULL,NULL),(2668,'UniProt Function',NULL,3379,NULL,'Catalyzes the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation. Involved in a variety of CNS functions, such as sedation, NREM sleep and PGE2-induced allodynia, and may have an anti-apoptotic role in oligodendrocytes. Binds small non-substrate lipophilic molecules, including biliverdin, bilirubin, retinal, retinoic acid and thyroid hormone, and may act as a scavenger for harmful hydrophopic molecules and as a secretory retinoid and thyroid hormone transporter. Possibly involved in development and maintenance of the blood-brain, blood-retina, blood-aqueous humor and blood-testis barrier. It is likely to play important roles in both maturation and maintenance of the central nervous system and male reproductive system.',NULL,NULL,NULL,NULL,NULL),(2669,'UniProt Function',NULL,3380,NULL,'Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2).',NULL,NULL,NULL,NULL,NULL),(2670,'UniProt Function',NULL,3381,NULL,'Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto-PGE2-alpha with highest efficienty towards 15-keto-PGE2-alpha. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(2671,'UniProt Function',NULL,3382,NULL,'Receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(2672,'UniProt Function',NULL,3383,NULL,'Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development, migration, differentiation and survival and of epithelial calcium ion transport. Regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. Required for skeletal homeostasis. Promotes mammary mesenchyme differentiation and bud outgrowth by modulating mesenchymal cell responsiveness to BMPs. Upregulates BMPR1A expression in the mammary mesenchyme and this increases the sensitivity of these cells to BMPs and allows them to respond to BMP4 in a paracrine and/or autocrine fashion. BMP4 signaling in the mesenchyme, in turn, triggers epithelial outgrowth and augments MSX2 expression, which causes the mammary mesenchyme to inhibit hair follicle formation within the nipple sheath (By similarity). Promotes colon cancer cell migration and invasion in an integrin alpha-6/beta-1-dependent manner through activation of Rac1.',NULL,NULL,NULL,NULL,NULL),(2673,'UniProt Function',NULL,3383,NULL,'Osteostatin is a potent inhibitor of osteoclastic bone resorption.',NULL,NULL,NULL,NULL,NULL),(2674,'UniProt Function',NULL,3384,NULL,'Non-receptor type tyrosine-specific phosphatase that dephosphorylates receptor protein tyrosine kinases including INSR, EGFR, CSF1R, PDGFR. Also dephosphorylates non-receptor protein tyrosine kinases like JAK1, JAK2, JAK3, Src family kinases, STAT1, STAT3 and STAT6 either in the nucleus or the cytoplasm. Negatively regulates numerous signaling pathways and biological processes like hematopoiesis, inflammatory response, cell proliferation and differentiation, and glucose homeostasis. Plays a multifaceted and important role in the development of the immune system. Functions in T-cell receptor signaling through dephosphorylation of FYN and LCK to control T-cells differentiation and activation. Dephosphorylates CSF1R, negatively regulating its downstream signaling and macrophage differentiation. Negatively regulates cytokine (IL2/interleukin-2 and interferon)-mediated signaling through dephosphorylation of the cytoplasmic kinases JAK1, JAK3 and their substrate STAT1, that propagate signaling downstream of the cytokine receptors. Also regulates the IL6/interleukin-6 and IL4/interleukin-4 cytokine signaling through dephosphorylation of STAT3 and STAT6 respectively. In addition to the immune system, it is involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth. Activated by the integrin ITGA1/ITGB1, it dephosphorylates EGFR and negatively regulates EGF signaling. Dephosphorylates PDGFRB and negatively regulates platelet-derived growth factor receptor-beta signaling pathway and therefore cell proliferation. Negatively regulates tumor necrosis factor-mediated signaling downstream via MAPK through SRC dephosphorylation. May also regulate the hepatocyte growth factor receptor signaling pathway through dephosphorylation of the hepatocyte growth factor receptor MET. Plays also an important role in glucose homeostasis. For instance, negatively regulates the insulin receptor signaling pathway through the dephosphorylation of INSR and control gluconeogenesis and liver glucose production through negative regulation of the IL6 signaling pathways. May also bind DNA.',NULL,NULL,NULL,NULL,NULL),(2675,'UniProt Function',NULL,3385,NULL,'Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Positively regulates MAPK signal transduction pathway (PubMed:28074573). Dephosphorylates GAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2 at \'Tyr-722\' resulting in stimulatation of its RhoA binding activity. Dephosphorylates CDC73 (PubMed:26742426).',NULL,NULL,NULL,NULL,NULL),(2676,'UniProt Function',NULL,3386,NULL,'Protein phosphatase that acts preferentially on tyrosine-phosphorylated MAPK1. Plays a role in the regulation of T and B-lymphocyte development and signal transduction.',NULL,NULL,NULL,NULL,NULL),(2677,'UniProt Function',NULL,3387,NULL,'PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Acts as a regulatory subunit for serine/threonine-protein phosphatase 2A (PP2A) modulating its activity or substrate specificity, probably by inducing a conformational change in the catalytic subunit, a proposed direct target of the PPIase. Can reactivate inactive phosphatase PP2A-phosphatase methylesterase complexes (PP2A(i)) in presence of ATP and Mg(2+) (By similarity). Reversibly stimulates the variable phosphotyrosyl phosphatase activity of PP2A core heterodimer PP2A(D) in presence of ATP and Mg(2+) (in vitro). The phosphotyrosyl phosphatase activity is dependent of an ATPase activity of the PP2A(D):PPP2R4 complex. Is involved in apoptosis; the function appears to be independent from PP2A.',NULL,NULL,NULL,NULL,NULL),(2678,'UniProt Function',NULL,3388,NULL,'Plays a role in vesicle-mediated secretory processes. Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets. Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation. Plays a role in insulin secretion in response to glucose stimuli. Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain. In females, but not in males, required for normal accumulation and secretion of pituitary hormones, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH) (By similarity). Required to maintain normal levels of renin expression and renin release (By similarity). May regulate catalytic active protein-tyrosine phosphatases such as PTPRA through dimerization (By similarity). Has phosphatidylinositol phosphatase activity; the PIPase activity is involved in its ability to regulate insulin secretion. Can dephosphorylate phosphatidylinositol 4,5-biphosphate (PI(4,5)P2), phosphatidylinositol 5-phosphate and phosphatidylinositol 3-phosphate (By similarity). Regulates PI(4,5)P2 level in the plasma membrane and localization of cofilin at the plasma membrane and thus is indirectly involved in regulation of actin dynamics related to cell migration and metastasis; upon hydrolyzation of PI(4,5)P2 cofilin is released from the plasma membrane and acts in the cytoplasm in severing F-actin filaments (PubMed:26620550).',NULL,NULL,NULL,NULL,NULL),(2679,'UniProt Function',NULL,3389,NULL,'Isoform 1 plays a critical role in signaling transduction pathways and phosphoprotein network topology in red blood cells. May play a role in osteoclast formation and function (By similarity).',NULL,NULL,NULL,NULL,NULL),(2680,'UniProt Function',NULL,3389,NULL,'Isoform 2 acts as a negative regulator of insulin receptor (IR) signaling in skeletal muscle. Regulates insulin-induced tyrosine phosphorylation of insulin receptor (IR) and insulin receptor substrate 1 (IRS-1), phosphorylation of protein kinase B and glycogen synthase kinase-3 and insulin induced stimulation of glucose uptake (By similarity).',NULL,NULL,NULL,NULL,NULL),(2681,'UniProt Function',NULL,3389,NULL,'Isoform 1 and isoform 2 act as a negative regulator of FceRI-mediated signal transduction leading to cytokine production and degranulation, most likely by acting at the level of SYK to affect downstream events such as phosphorylation of SLP76 and LAT and mobilization of Ca(2+).',NULL,NULL,NULL,NULL,NULL),(2682,'UniProt Function',NULL,3390,NULL,'Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.',NULL,NULL,NULL,NULL,NULL),(2683,'UniProt Function',NULL,3391,NULL,'Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity.',NULL,NULL,NULL,NULL,NULL),(2684,'UniProt Function',NULL,3391,NULL,'The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one.',NULL,NULL,NULL,NULL,NULL),(2685,'UniProt Function',NULL,3392,NULL,'Regulation of processes involving cell contact and adhesion such as growth control, tumor invasion, and metastasis. Negative regulator of EGFR signaling pathway. Forms complexes with beta-catenin and gamma-catenin/plakoglobin. Beta-catenin may be a substrate for the catalytic activity of PTPRK/PTP-kappa.',NULL,NULL,NULL,NULL,NULL),(2686,'UniProt Function',NULL,3393,NULL,'Tyrosine-protein phosphatase which dephosphorylates CTNNB1. Regulates CTNNB1 function both in cell adhesion and signaling. May function in cell proliferation and migration and play a role in the maintenance of epithelial integrity. May play a role in megakaryocytopoiesis.',NULL,NULL,NULL,NULL,NULL),(2687,'UniProt Function',NULL,3395,NULL,'Plays a role in apical endocytosis/recycling. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes.',NULL,NULL,NULL,NULL,NULL),(2688,'UniProt Function',NULL,3399,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in the process of endocytosis and is an essential rate-limiting regulator of the fast recycling pathway back to the plasma membrane. During cytokinesis, required for the postfurrowing terminal steps, namely for intercellular bridge stability and abscission, possibly by controlling phosphatidylinositol 4,5-bis phosphate (PIP2) and SEPT2 localization at the intercellular bridge. May indirectly regulate neurite outgrowth. Together with TBC1D13 may be involved in regulation of insulin-induced glucose transporter SLC2A4/GLUT4 translocation to the plasma membrane in adipocytes.',NULL,NULL,NULL,NULL,NULL),(2689,'UniProt Function',NULL,3401,NULL,'Protein transport. Probably involved in vesicular traffic (By similarity).',NULL,NULL,NULL,NULL,NULL),(2690,'UniProt Function',NULL,3402,NULL,'Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Involved in KCNH1 channels trafficking to and from the cell membrane (PubMed:22841712). Stimulates RABGEF1 mediated nucleotide exchange on RAB5A. Mediates the traffic of PKD1:PKD2 complex from the endoplasmic reticulum through the Golgi to the cilium (By similarity).',NULL,NULL,NULL,NULL,NULL),(2691,'UniProt Function',NULL,3403,NULL,'Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination (HR) (PubMed:28575658). Binds to single and double-stranded DNA and exhibits DNA-dependent ATPase activity. Catalyzes the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. Binds to single-stranded DNA in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange (PubMed:26681308). Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51C and XRCC3. Also involved in interstrand cross-link repair (PubMed:26253028).',NULL,NULL,NULL,NULL,NULL),(2692,'UniProt Function',NULL,3404,NULL,'Involved in double-stranded break repair. Plays a central role in genetic recombination and DNA repair by promoting the annealing of complementary single-stranded DNA and by stimulation of the RAD51 recombinase.',NULL,NULL,NULL,NULL,NULL),(2693,'UniProt Function',NULL,3405,NULL,'Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation, differentiation, apoptosis, survival and oncogenic transformation. RAF1 activation initiates a mitogen-activated protein kinase (MAPK) cascade that comprises a sequential phosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 and MAP2K2/MEK2) and the extracellular signal-regulated kinases (MAPK3/ERK1 and MAPK1/ERK2). The phosphorylated form of RAF1 (on residues Ser-338 and Ser-339, by PAK1) phosphorylates BAD/Bcl2-antagonist of cell death at \'Ser-75\'. Phosphorylates adenylyl cyclases: ADCY2, ADCY5 and ADCY6, resulting in their activation. Phosphorylates PPP1R12A resulting in inhibition of the phosphatase activity. Phosphorylates TNNT2/cardiac muscle troponin T. Can promote NF-kB activation and inhibit signal transducers involved in motility (ROCK2), apoptosis (MAP3K5/ASK1 and STK3/MST2), proliferation and angiogenesis (RB1). Can protect cells from apoptosis also by translocating to the mitochondria where it binds BCL2 and displaces BAD/Bcl2-antagonist of cell death. Regulates Rho signaling and migration, and is required for normal wound healing. Plays a role in the oncogenic transformation of epithelial cells via repression of the TJ protein, occludin (OCLN) by inducing the up-regulation of a transcriptional repressor SNAI2/SLUG, which induces down-regulation of OCLN. Restricts caspase activation in response to selected stimuli, notably Fas stimulation, pathogen-mediated macrophage apoptosis, and erythroid differentiation.',NULL,NULL,NULL,NULL,NULL),(2694,'UniProt Function',NULL,3406,NULL,'Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport.',NULL,NULL,NULL,NULL,NULL),(2695,'UniProt Function',NULL,3407,NULL,'Acts as a cofactor for XPO1/CRM1-mediated nuclear export, perhaps as export complex scaffolding protein. Bound to XPO1/CRM1, stabilizes the XPO1/CRM1-cargo interaction. In the absence of Ran-bound GTP prevents binding of XPO1/CRM1 to the nuclear pore complex. Binds to CHC1/RCC1 and increases the guanine nucleotide exchange activity of CHC1/RCC1. Recruits XPO1/CRM1 to CHC1/RCC1 in a Ran-dependent manner. Negative regulator of TGF-beta signaling through interaction with the R-SMAD proteins, SMAD2 and SMAD3, and mediating their nuclear export.',NULL,NULL,NULL,NULL,NULL),(2696,'UniProt Function',NULL,3408,NULL,'Potential tumor suppressor. Required for death receptor-dependent apoptosis. Mediates activation of STK3/MST2 and STK4/MST1 during Fas-induced apoptosis by preventing their dephosphorylation. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Isoform A interacts with CDC20, an activator of the anaphase-promoting complex, APC, resulting in the inhibition of APC activity and mitotic progression. Inhibits proliferation by negatively regulating cell cycle progression at the level of G1/S-phase transition by regulating accumulation of cyclin D1 protein. Isoform C has been shown not to perform these roles, no function has been identified for this isoform. Isoform A disrupts interactions among MDM2, DAXX and USP7, thus contributing to the efficient activation of TP53 by promoting MDM2 self-ubiquitination in cell-cycle checkpoint control in response to DNA damage.',NULL,NULL,NULL,NULL,NULL),(2697,'UniProt Function',NULL,3410,NULL,'Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse.',NULL,NULL,NULL,NULL,NULL),(2698,'UniProt Function',NULL,3411,NULL,'Plays a role in NTRK2/TRKB axonal anterograde transport by facilitating the associaton of NTRK2/TRKB with KLC1 (PubMed:21775604). May be involved in targeting uroplakins to urothelial apical membranes (By similarity).',NULL,NULL,NULL,NULL,NULL),(2699,'UniProt Function',NULL,3412,NULL,'Protein transport. Acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking. It is involved in autophagy, acting as a modulator of autophagosome formation.',NULL,NULL,NULL,NULL,NULL),(2700,'UniProt Function',NULL,3413,NULL,'Small GTPase required for ciliation. Activated in a guanine nucleotide exchange factor (GEF)-independent manner via its intrinsic GDP for GTP nucleotide exchange ability (PubMed:28625565). Involved in ciliary assembly by binding the intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28625565, PubMed:28428259).',NULL,NULL,NULL,NULL,NULL),(2701,'UniProt Function',NULL,3414,NULL,'Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 \'Lys-20\' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation. Forms a complex with adenovirus E1A and with SV40 large T antigen. May bind and modulate functionally certain cellular proteins with which T and E1A compete for pocket binding. May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(2702,'UniProt Function',NULL,3416,NULL,'Cold-inducible mRNA binding protein that enhances global protein synthesis at both physiological and mild hypothermic temperatures. Reduces the relative abundance of microRNAs, when overexpressed. Enhances phosphorylation of translation initiation factors and active polysome formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(2703,'UniProt Function',NULL,3417,NULL,'RNA-binding factor involved in multiple aspects of cellular processes like alternative splicing of pre-mRNA and translation regulation. Modulates alternative 5\'-splice site and exon selection. Acts as a muscle cell differentiation-promoting factor. Activates exon skipping of the PTB pre-mRNA during muscle cell differentiation. Antagonizes the activity of the splicing factor PTBP1 to modulate muscle cell-specific exon selection of alpha tropomyosin. Binds to intronic pyrimidine-rich sequence of the TPM1 and MAPT pre-mRNAs. Required for the translational activation of PER1 mRNA in response to circadian clock. Binds directly to the 3\'-UTR of the PER1 mRNA. Exerts a suppressive activity on Cap-dependent translation via binding to CU-rich responsive elements within the 3\'UTR of mRNAs, a process increased under stress conditions or during myocytes differentiation. Recruits EIF4A1 to stimulate IRES-dependent translation initiation in respons to cellular stress. Associates to internal ribosome entry segment (IRES) in target mRNA species under stress conditions. Plays a role for miRNA-guided RNA cleavage and translation suppression by promoting association of AGO2-containing miRNPs with their cognate target mRNAs. Associates with miRNAs during muscle cell differentiation. Binds preferentially to 5\'-CGCGCG[GCA]-3\' motif in vitro.',NULL,NULL,NULL,NULL,NULL),(2704,'UniProt Function',NULL,3419,NULL,'Plays a role in embryo pre-implantation development.',NULL,NULL,NULL,NULL,NULL),(2705,'UniProt Function',NULL,3420,NULL,'Subunit of the trimeric nuclear exosome targeting (NEXT) complex, a complex that directs a subset of non-coding short-lived RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484). Possible involved in germ cell RNA processing and meiosis (Probable).',NULL,NULL,NULL,NULL,NULL),(2706,'UniProt Function',NULL,3422,NULL,'Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The MAGOH-RBM8A heterodimer inhibits the ATPase activity of EIF4A3, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The MAGOH-RBM8A heterodimer interacts with the EJC key regulator PYM1 leading to EJC disassembly in the cytoplasm and translation enhancement of EJC-bearing spliced mRNAs by recruiting them to the ribosomal 48S preinitiation complex. Its removal from cytoplasmic mRNAs requires translation initiation from EJC-bearing spliced mRNAs. Associates preferentially with mRNAs produced by splicing. Does not interact with pre-mRNAs, introns, or mRNAs produced from intronless cDNAs. Associates with both nuclear mRNAs and newly exported cytoplasmic mRNAs. The MAGOH-RBM8A heterodimer is a component of the nonsense mediated decay (NMD) pathway. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly.',NULL,NULL,NULL,NULL,NULL),(2707,'UniProt Function',NULL,3423,NULL,'Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds specifically to the DNA sequence motif 5\'-[AT]CT[AT][AT]T-3\'. Probably has a role in DNA replication.',NULL,NULL,NULL,NULL,NULL),(2708,'UniProt Function',NULL,3425,NULL,'RNA-binding protein that acts as a regulator of alternative pre-mRNA splicing. Involved in apoptotic cell death through the regulation of the apoptotic factor BCL2L1 isoform expression. Modulates the ratio of proapoptotic BCL2L1 isoform S to antiapoptotic BCL2L1 isoform L mRNA expression. When overexpressed, stimulates proapoptotic BCL2L1 isoform S 5\'-splice site (5\'-ss) selection, whereas its depletion caused the accumulation of antiapoptotic BCL2L1 isoform L. Promotes BCL2L1 isoform S 5\'-ss usage through the 5\'-CGGGCA-3\' RNA sequence. Its association with LUC7L3 promotes U1 snRNP binding to a weak 5\' ss in a 5\'-CGGGCA-3\'-dependent manner. Binds to the exonic splicing enhancer 5\'-CGGGCA-3\' RNA sequence located within exon 2 of the BCL2L1 pre-mRNA. Also involved in the generation of an abnormal and truncated splice form of SCN5A in heart failure.',NULL,NULL,NULL,NULL,NULL),(2709,'UniProt Function',NULL,3426,NULL,'This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1.',NULL,NULL,NULL,NULL,NULL),(2710,'UniProt Function',NULL,3427,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(2711,'UniProt Function',NULL,3430,NULL,'Cell surface receptor. Plays a functionally redundant role in postnatal brain development and in regulating axon regeneration in the adult central nervous system. Contributes to normal axon migration across the brain midline and normal formation of the corpus callosum. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated by MAG. Plays a role in inhibiting neurite outgrowth and axon regeneration via its binding to neuronal chondroitin sulfate proteoglycans. Binds heparin (By similarity). Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development (PubMed:22325200). Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton (PubMed:22325200).',NULL,NULL,NULL,NULL,NULL),(2712,'UniProt Function',NULL,3431,NULL,'May act in concert with RAB3A in regulating aspects of synaptic vesicle membrane flow within the nerve terminal.',NULL,NULL,NULL,NULL,NULL),(2713,'UniProt Function',NULL,3432,NULL,'Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. May play a role in SRE-mediated gene transcription.',NULL,NULL,NULL,NULL,NULL),(2714,'UniProt Function',NULL,3433,NULL,'GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Plays a role in the establishment of basal endothelial barrier function.',NULL,NULL,NULL,NULL,NULL),(2715,'UniProt Function',NULL,3434,NULL,'Potential tumor suppressor. May act as a KRAS effector protein. May promote apoptosis and cell cycle arrest.',NULL,NULL,NULL,NULL,NULL),(2716,'UniProt Function',NULL,3435,NULL,'Potential tumor suppressor. Seems to be involved in lymphocyte adhesion by linking RAP1A activation upon T-cell receptor or chemokine stimulation to integrin activation. Isoform 2 stimulates lymphocyte polarization and the patch-like distribution of ITGAL/LFA-1, resulting in an enhanced adhesion to ICAM1. Together with RAP1A may participate in regulation of microtubule growth. The association of isoform 2 with activated RAP1A is required for directional movement of endothelial cells during wound healing. May be involved in regulation of Ras apoptotic function. The RASSF5-STK4/MST1 complex may mediate HRAS and KRAS induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(2717,'UniProt Function',NULL,3437,NULL,'Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands. Phosphorylates PTK2/FAK1. Regulates both cell death/survival balance and positional information. Required for the molecular mechanisms orchestration during intestine organogenesis; involved in the development of enteric nervous system and renal organogenesis during embryonic life, and promotes the formation of Peyer\'s patch-like structures, a major component of the gut-associated lymphoid tissue. Modulates cell adhesion via its cleavage by caspase in sympathetic neurons and mediates cell migration in an integrin (e.g. ITGB1 and ITGB3)-dependent manner. Involved in the development of the neural crest. Active in the absence of ligand, triggering apoptosis through a mechanism that requires receptor intracellular caspase cleavage. Acts as a dependence receptor; in the presence of the ligand GDNF in somatotrophs (within pituitary), promotes survival and down regulates growth hormone (GH) production, but triggers apoptosis in absence of GDNF. Regulates nociceptor survival and size. Triggers the differentiation of rapidly adapting (RA) mechanoreceptors. Mediator of several diseases such as neuroendocrine cancers; these diseases are characterized by aberrant integrins-regulated cell migration. Mediates, through interaction with GDF15-receptor GFRAL, GDF15-induced cell-signaling in the brainstem which induces inhibition of food-intake. Activates MAPK- and AKT-signaling pathways (PubMed:28846097, PubMed:28953886, PubMed:28846099). Isoform 1 in complex with GFRAL induces higher activation of MAPK-signaling pathway than isoform 2 in complex with GFRAL (PubMed:28846099).',NULL,NULL,NULL,NULL,NULL),(2718,'UniProt Function',NULL,3438,NULL,'Deoxycytidyl transferase involved in DNA repair. Transfers a dCMP residue from dCTP to the 3\'-end of a DNA primer in a template-dependent reaction. May assist in the first step in the bypass of abasic lesions by the insertion of a nucleotide opposite the lesion. Required for normal induction of mutations by physical and chemical agents.',NULL,NULL,NULL,NULL,NULL),(2719,'UniProt Function',NULL,3439,NULL,'This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This component is involved in redox-linked proton pumping.',NULL,NULL,NULL,NULL,NULL),(2720,'UniProt Function',NULL,3440,NULL,'This gut peptide inhibits exocrine pancreatic secretion, has a vasoconstrictory action and inhibitis jejunal and colonic mobility.',NULL,NULL,NULL,NULL,NULL),(2721,'UniProt Function',NULL,3441,NULL,'May be involved in the generation of reactive oxygen species (ROS). Has low NADPH-dependent beta-naphthoquinone reductase activity, with a preference for 1,2-beta-naphthoquinone over 1,4-beta-naphthoquinone. Has low NADPH-dependent diamine reductase activity (in vitro).',NULL,NULL,NULL,NULL,NULL),(2722,'UniProt Function',NULL,3442,NULL,'Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway.',NULL,NULL,NULL,NULL,NULL),(2723,'UniProt Function',NULL,3443,NULL,'Involved in membrane trafficking between the Golgi complex and endosomes during early embryonic development. Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. May act by modulating the kinesin KIF16B-cargo association to endosomes (By similarity). Regulates, together with its guanine nucleotide exchange factor DENND6A, the specific endocytic transport of ADAM10, N-cadherin/CDH2 shedding and cell-cell adhesion.',NULL,NULL,NULL,NULL,NULL),(2724,'UniProt Function',NULL,3444,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes (PubMed:10818110, PubMed:14617813, PubMed:16410077, PubMed:15378032). Contributes to the regulation of filopodia extension (PubMed:14978216). Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan (PubMed:22660413). Regulates maturation of apoptotic cell-containing phagosomes, probably downstream of DYN2 and PIK3C3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(2725,'UniProt Function',NULL,3445,NULL,'May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with ANKRD27 and VAMP7 (By similarity). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays an important role in the control of melanin production and melanosome biogenesis (PubMed:23084991). In concert with RAB32, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(2726,'UniProt Function',NULL,3446,NULL,'Involved in exocytosis by regulating a late step in synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal.',NULL,NULL,NULL,NULL,NULL),(2727,'UniProt Function',NULL,3449,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB1B regulates vesicular transport between the endoplasmic reticulum and successive Golgi compartments. Plays a role in the initial events of the autophagic vacuole development which take place at specialized regions of the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(2728,'UniProt Function',NULL,3450,NULL,'Involved in the transport of proteins between the endosomes and the trans Golgi network.',NULL,NULL,NULL,NULL,NULL),(2729,'UniProt Function',NULL,3451,NULL,'Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(2730,'UniProt Function',NULL,3453,NULL,'Component of intercellular bridges during meiosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells. Not required for fertility (By similarity).',NULL,NULL,NULL,NULL,NULL),(2731,'UniProt Function',NULL,3454,NULL,'Specifically binds poly(G) RNA homopolymers in vitro.',NULL,NULL,NULL,NULL,NULL),(2732,'UniProt Function',NULL,3456,NULL,'Acts as a coactivator of transcriptional activity. Required to increase TGFB1/Smad-mediated transactivation. Acts through SMAD2, SMAD3 and SMAD4 to increase transcriptional activity. Increases phosphorylation of SMAD2 and SMAD3 on their C-terminal SSXS motif, possibly through recruitment of TGFBR1. Promotes the nuclear accumulation of SMAD2, SMAD3 and SMAD4 proteins (PubMed:26347403). Binds to poly(A) RNA (PubMed:17099224, PubMed:26347403).',NULL,NULL,NULL,NULL,NULL),(2733,'UniProt Function',NULL,3457,NULL,'RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis.',NULL,NULL,NULL,NULL,NULL),(2734,'UniProt Function',NULL,3458,NULL,'RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis.',NULL,NULL,NULL,NULL,NULL),(2735,'UniProt Function',NULL,3459,NULL,'Meiosis-specific component of some cohesin complex required during the initial steps of prophase I in male meiosis. Probably required during early meiosis in males for separation of sister chromatids and homologous chromosomes. Replaces RAD21 in premeiotic S phase (during early stages of prophase I), while RAD21 reappears in later stages of prophase I. Involved in synaptonemal complex assembly, synapsis initiation and crossover recombination between homologous chromosomes during prophase I (By similarity).',NULL,NULL,NULL,NULL,NULL),(2736,'UniProt Function',NULL,3460,NULL,'Probable molecular chaperone assisting protein biosynthesis and transport in the endoplasmic reticulum (PubMed:16433634, PubMed:28939891). Required for the proper biosynthesis and transport of pulmonary surfactant-associated protein A/SP-A, pulmonary surfactant-associated protein D/SP-D and the lipid transporter ABCA3 (By similarity). By regulating both the proper expression and the degradation through the endoplasmic reticulum-associated protein degradation pathway of these proteins plays a crucial role in pulmonary surfactant homeostasis (By similarity). Has an anti-fibrotic activity by negatively regulating the secretion of type I and type III collagens (PubMed:28939891). This calcium-binding protein also transiently associates with immature PCSK6 and regulates its secretion (PubMed:16433634).',NULL,NULL,NULL,NULL,NULL),(2737,'UniProt Function',NULL,3461,NULL,'Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3\'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity).',NULL,NULL,NULL,NULL,NULL),(2738,'UniProt Function',NULL,3462,NULL,'May bind single-stranded nucleic acids.',NULL,NULL,NULL,NULL,NULL),(2739,'UniProt Function',NULL,3463,NULL,'May be involved in post-transcriptional processing, most probably in mRNA splicing. Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity). May bind to specific miRNA hairpins (PubMed:28431233).',NULL,NULL,NULL,NULL,NULL),(2740,'UniProt Function',NULL,3464,NULL,'Tissue-specific splicing factor with potential implication in the regulation of alternative splicing during neuron and germ cell differentiation. Antagonizes SRSF1-mediated BCL-X splicing. May affect the choice of alternative 5\' splice sites by binding to specific sequences in exons and antagonizing the SR protein SRSF1.',NULL,NULL,NULL,NULL,NULL),(2741,'UniProt Function',NULL,3466,NULL,'Involved in the first step of pre-mRNA splicing. Binds directly to the internal stem-loop (ISL) domain of the U6 snRNA and to the pre-mRNA intron near the 5\' splice site during the activation and catalytic phases of the spliceosome cycle. Involved in both translocations of the nuclear SLU7 to the cytoplasm and the cytosolic calcium-binding protein PDCD6 to the nucleus upon cellular stress responses.',NULL,NULL,NULL,NULL,NULL),(2742,'UniProt Function',NULL,3467,NULL,'E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I (PubMed:11792325, PubMed:12032081, PubMed:15378033, PubMed:22194619, PubMed:15931224). Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates (PubMed:7775481). Binds single-stranded RNA (in vitro) (PubMed:7775481). May bind DNA (PubMed:7775481). Component of the nuclear export pathway (PubMed:10078529). Specific docking site for the nuclear export factor exportin-1 (PubMed:10078529). Sumoylates PML at \'Lys-490\' which is essential for the proper assembly of PML-NB (PubMed:22155184). Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae during G2 phase of cell cycle (PubMed:20386726). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357, PubMed:23353830).',NULL,NULL,NULL,NULL,NULL),(2743,'UniProt Function',NULL,3468,NULL,'Probable RNA-binding protein. May be involved in pre-mRNA splicing process.',NULL,NULL,NULL,NULL,NULL),(2744,'UniProt Function',NULL,3469,NULL,'Nucleolar component of the spliceosomal ribonucleoprotein complexes.',NULL,NULL,NULL,NULL,NULL),(2745,'UniProt Function',NULL,3470,NULL,'Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3\'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF, TNFRSF4 and in many more mRNAs (PubMed:25026078). Cleaves translationally inactive mRNAs harboring a stem-loop (SL), often located in their 3\'-UTRs, during the early phase of inflammation in a helicase UPF1-independent manner (By similarity). Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs (By similarity). In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity (By similarity). In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression (By similarity). Also recognizes CDE in its own mRNA and in that of paralogous RC3H2, possibly leading to feedback loop regulation (By similarity). Recognizes and binds mRNAs containing an hexaloop stem-loop motif, called alternative decay element (ADE) (By similarity). Able to interact with double-stranded RNA (dsRNA) (PubMed:25504471, PubMed:25026078). miRNA-binding protein that regulates microRNA homeostasis. Enhances DICER-mediated processing of pre-MIR146a but reduces mature MIR146a levels through an increase of 3\' end uridylation. Both inhibits ICOS mRNA expression and they may act together to exert the suppression (PubMed:25697406). Acts as a ubiquitin E3 ligase. Pairs with E2 enzymes UBE2A, UBE2B, UBE2D2, UBE2F, UBE2G1, UBE2G2 and UBE2L3 and produces polyubiquitin chains (PubMed:26489670). Show the strongest activity when paired with UBE2N:UBE2V1 or UBE2N:UBE2V2 E2 complexes and generate both short and long polyubiquitin chains (PubMed:26489670).',NULL,NULL,NULL,NULL,NULL),(2746,'UniProt Function',NULL,3471,NULL,'Functions together with ADGRA2 to enable brain endothelial cells to selectively respond to Wnt7 signals (WNT7A or WNT7B) (PubMed:28289266, PubMed:30026314). Plays a key role in Wnt7-specific responses: required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (By similarity). Acts as a Wnt7-specific coactivator of canonical Wnt signaling by decoding Wnt ligands: acts by interacting specifically with the disordered linker region of Wnt7, thereby conferring ligand selectivity for Wnt7 (PubMed:30026314). ADGRA2 is then required to deliver RECK-bound Wnt7 to frizzled by assembling a higher-order RECK-ADGRA2-Fzd-LRP5-LRP6 complex (PubMed:30026314). Also acts as a serine protease inhibitor: negatively regulates matrix metalloproteinase-9 (MMP9) by suppressing MMP9 secretion and by direct inhibition of its enzymatic activity (PubMed:9789069, PubMed:18194466). Also inhibits metalloproteinase activity of MMP2 and MMP14 (MT1-MMP) (PubMed:9789069).',NULL,NULL,NULL,NULL,NULL),(2747,'UniProt Function',NULL,3472,NULL,'Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration.',NULL,NULL,NULL,NULL,NULL),(2748,'UniProt Function',NULL,3473,NULL,'Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors (PubMed:20200447). May play a role in long-term axonal maintenance (PubMed:24478229).',NULL,NULL,NULL,NULL,NULL),(2749,'UniProt Function',NULL,3474,NULL,'Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity).',NULL,NULL,NULL,NULL,NULL),(2750,'UniProt Function',NULL,3475,NULL,'Induces activation of MAPK14/p38 cascade, when overexpressed (PubMed:28688764). Induces apoptosis, when overexpressed (PubMed:19969290).',NULL,NULL,NULL,NULL,NULL),(2751,'UniProt Function',NULL,3476,NULL,'Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(2752,'UniProt Function',NULL,3477,NULL,'NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric RelB-p50 and RelB-p52 complexes are transcriptional activators. RELB neither associates with DNA nor with RELA/p65 or REL. Stimulates promoter activity in the presence of NFKB2/p49. As a member of the NUPR1/RELB/IER3 survival pathway, may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer in a CRY1/CRY2 independent manner. Increased repression of the heterodimer is seen in the presence of NFKB2/p52. Is required for both T and B lymphocyte maturation and function (PubMed:26385063).',NULL,NULL,NULL,NULL,NULL),(2753,'UniProt Function',NULL,3481,NULL,'Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. In fibroblasts, it may have tumor-suppressing capabilities being involved in growth regulation.',NULL,NULL,NULL,NULL,NULL),(2754,'UniProt Function',NULL,3482,NULL,'Rab9 effector required for endosome to trans-Golgi network (TGN) transport.',NULL,NULL,NULL,NULL,NULL),(2755,'UniProt Function',NULL,3483,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. The low intrinsic GTPase activity of RAB43 is activated by USP6NL. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. Required for the structural integrity of the Golgi complex. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis.',NULL,NULL,NULL,NULL,NULL),(2756,'UniProt Function',NULL,3484,NULL,'May play an important role in cardiac antiarrhythmia via the strong suppression of voltage-gated L-type Ca(2+) currents. Regulates voltage-dependent L-type calcium channel subunit alpha-1C trafficking to the cell membrane (By similarity). Inhibits cardiac hypertrophy through the calmodulin-dependent kinase II (CaMKII) pathway. Inhibits phosphorylation and activation of CAMK2D.',NULL,NULL,NULL,NULL,NULL),(2757,'UniProt Function',NULL,3485,NULL,'Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.',NULL,NULL,NULL,NULL,NULL),(2758,'UniProt Function',NULL,3486,NULL,'Ca(2+)-dependent Ras GTPase-activating protein, that may play a role in the Ras-MAPK pathway.',NULL,NULL,NULL,NULL,NULL),(2759,'UniProt Function',NULL,3487,NULL,'Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4).',NULL,NULL,NULL,NULL,NULL),(2760,'UniProt Function',NULL,3488,NULL,'Small GTPase. Negatively regulates the transcription regulation activity of the APBB1/FE65-APP complex via its interaction with APBB1/FE65 (By similarity).',NULL,NULL,NULL,NULL,NULL),(2761,'UniProt Function',NULL,3489,NULL,'Involved in the induction of apoptosis, through both caspase-dependent and caspase-independent pathways. May act as a Ras effector protein. May suppress the serum-induced basal levels of NF-kappa-B (By similarity).',NULL,NULL,NULL,NULL,NULL),(2762,'UniProt Function',NULL,3491,NULL,'Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel. As part of the 5S RNP/5S ribonucleoprotein particle it is an essential component of the LSU, required for its formation and the maturation of rRNAs (PubMed:12962325, PubMed:19061985, PubMed:24120868, PubMed:23636399). It also couples ribosome biogenesis to p53/TP53 activation. As part of the 5S RNP it accumulates in the nucleoplasm and inhibits MDM2, when ribosome biogenesis is perturbed, mediating the stabilization and the activation of TP53 (PubMed:24120868).',NULL,NULL,NULL,NULL,NULL),(2763,'UniProt Function',NULL,3492,NULL,'Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3\'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF and in many more mRNAs. Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs. In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity. In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression. Also recognizes CDE in its own mRNA and in that of paralogous RC3H1, possibly leading to feedback loop regulation (By similarity). miRNA-binding protein that regulates microRNA homeostasis. Enhances DICER-mediated processing of pre-MIR146a but reduces mature MIR146a levels through an increase of 3\' end uridylation. Both inhibits ICOS mRNA expression and they may act together to exert the suppression (PubMed:25697406). Acts as a ubiquitin E3 ligase. Pairs with E2 enzymes UBE2B, UBE2D2, UBE2E2, UBE2E3, UBE2G2, UBE2K and UBE2Q2 and produces polyubiquitin chains (PubMed:26489670). Show the strongest activity when paired with UBE2N:UBE2V1 or UBE2N:UBE2V2 E2 complexes and generate both short and long polyubiquitin chains (PubMed:26489670). Involved in the ubiquitination of MAP3K5 (PubMed:24448648, PubMed:26489670) (By similarity). Able to interact with double-stranded RNA (dsRNA) (PubMed:26489670).',NULL,NULL,NULL,NULL,NULL),(2764,'UniProt Function',NULL,3493,NULL,'Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A (PubMed:12809556). Could play a role during central nervous system development (By similarity).',NULL,NULL,NULL,NULL,NULL),(2765,'UniProt Function',NULL,3494,NULL,'May participate in suppression of cell proliferation and induces apoptotic cell death through activation of interleukin-1-beta converting enzyme (ICE)-like proteases.',NULL,NULL,NULL,NULL,NULL),(2766,'UniProt Function',NULL,3495,NULL,'Probable component of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins involved in cell cycle progression, signal transduction and transcription (PubMed:10851089). CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets (By similarity). Through the RING-type zinc finger, seems to recruit the E2 ubiquitination enzyme to the complex and brings it into close proximity to the substrate. Promotes the neddylation of CUL5 via its interaction with UBE2F. May play a role in protecting cells from apoptosis induced by redox agents.',NULL,NULL,NULL,NULL,NULL),(2767,'UniProt Function',NULL,3497,NULL,'RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis.',NULL,NULL,NULL,NULL,NULL),(2768,'UniProt Function',NULL,3499,NULL,'Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity towards 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected.',NULL,NULL,NULL,NULL,NULL),(2769,'UniProt Function',NULL,3500,NULL,'DNA-dependent ATPase. May modulate chromosome segregation.',NULL,NULL,NULL,NULL,NULL),(2770,'UniProt Function',NULL,3501,NULL,'Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC). Recruited by UPF3B associated with the EJC core at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF3B stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA.',NULL,NULL,NULL,NULL,NULL),(2771,'UniProt Function',NULL,3502,NULL,'Sequence-specific double-stranded DNA-binding protein required for initiation of chromosomal DNA replication. Binds on 5\'-ATT-3\' reiterated sequences downstream of the origin of bidirectional replication (OBR) and a second, homologous ATT sequence of opposite orientation situated within the OBR zone. Facilitates DNA bending.',NULL,NULL,NULL,NULL,NULL),(2772,'UniProt Function',NULL,3503,NULL,'May coordinate the cellular actions of activated EGF receptors and Ral-GTPases.',NULL,NULL,NULL,NULL,NULL),(2773,'UniProt Function',NULL,3504,NULL,'Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5\'-AGGTCA-3\' sites known as DR1-DR5. In the absence of ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. Required for limb bud development. In concert with RARA or RARB, required for skeletal growth, matrix homeostasis and growth plate function (By similarity).',NULL,NULL,NULL,NULL,NULL),(2774,'UniProt Function',NULL,3505,NULL,'Ca(2+)-dependent Ras GTPase-activating protein, that switches off the Ras-MAPK pathway following a stimulus that elevates intracellular calcium. Functions as an adaptor for Cdc42 and Rac1 during FcR-mediated phagocytosis.',NULL,NULL,NULL,NULL,NULL),(2775,'UniProt Function',NULL,3506,NULL,'Potential tumor suppressor. Acts as a KRAS-specific effector protein. May promote apoptosis and cell cycle arrest. Stabilizes STK3/MST2 by protecting it from proteasomal degradation.',NULL,NULL,NULL,NULL,NULL),(2776,'UniProt Function',NULL,3507,NULL,'May play a role in regulating vesicuar trafficking in cells.',NULL,NULL,NULL,NULL,NULL),(2777,'UniProt Function',NULL,3508,NULL,'Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.',NULL,NULL,NULL,NULL,NULL),(2778,'UniProt Function',NULL,3509,NULL,'RNA-binding protein that specifically bind the 3\'-UTR of CDKN1A transcripts, leading to maintain the stability of CDKN1A transcripts, thereby acting as a mediator of the p53/TP53 family to regulate CDKN1A. CDKN1A is a cyclin-dependent kinase inhibitor transcriptionally regulated by the p53/TP53 family to induce cell cycle arrest. Isoform 1, but not isoform 2, has the ability to induce cell cycle arrest in G1 and maintain the stability of CDKN1A transcripts induced by p53/TP53. Also acts as a mRNA splicing factor. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Plays a role in myogenic differentiation.',NULL,NULL,NULL,NULL,NULL),(2779,'UniProt Function',NULL,3509,NULL,'(Microbial infection) Essential factor for the splicing of the pre-mRNAs of human parvovirus B19 (B19V) and for the expression of B19V 11-kDa protein, which enhances viral replication.',NULL,NULL,NULL,NULL,NULL),(2780,'UniProt Function',NULL,3510,NULL,'Transcriptional coactivator for steroid nuclear receptors ESR1/ER-alpha and ESR2/ER-beta, and JUN/AP-1 (By similarity). May be involved in pre-mRNA splicing process.',NULL,NULL,NULL,NULL,NULL),(2781,'UniProt Function',NULL,3511,NULL,'RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as hematopoietic cell homeostasis, alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA (PubMed:27602518). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (By similarity). Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex (PubMed:27602518). Involved in random X inactivation mediated by Xist RNA: acts by binding Xist RNA and recruiting the WMM complex, which mediates m6A methylation, leading to target YTHDC1 reader on Xist RNA and promoting transcription repression activity of Xist (PubMed:27602518). Required for the development of multiple tissues, such as the maintenance of the homeostasis of long-term hematopoietic stem cells and for megakaryocyte (MK) and B-cell differentiation (By similarity). Regulates megakaryocyte differentiation by regulating alternative splicing of genes important for megakaryocyte differentiation; probably regulates alternative splicing via m6A regulation (PubMed:26575292). Required for placental vascular branching morphogenesis and embryonic development of the heart and spleen (By similarity). Acts as a regulator of thrombopoietin response in hematopoietic stem cells by regulating alternative splicing of MPL (By similarity). May also function as an mRNA export factor, stimulating export and expression of RTE-containing mRNAs which are present in many retrotransposons that require to be exported prior to splicing (PubMed:17001072, PubMed:19786495). High affinity binding of pre-mRNA to RBM15 may allow targeting of the mRNP to the export helicase DBP5 in a manner that is independent of splicing-mediated NXF1 deposition, resulting in export prior to splicing (PubMed:17001072, PubMed:19786495). May be implicated in HOX gene regulation (PubMed:11344311).',NULL,NULL,NULL,NULL,NULL),(2782,'UniProt Function',NULL,3512,NULL,'Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin.',NULL,NULL,NULL,NULL,NULL),(2783,'UniProt Function',NULL,3513,NULL,'Multifunctional RNA-binding protein involved in the regulation of pre-mRNA splicing, mRNA stability and mRNA translation important for cell fate decision and differentiation (PubMed:20977548, PubMed:24375645, PubMed:29358667, PubMed:29104163). Plays a major role in pre-mRNA alternative splicing regulation (PubMed:26990106, PubMed:29104163). Mediates preferentially muscle-specific exon inclusion in numerous mRNAs important for striated cardiac and skeletal muscle cell differentiation (PubMed:29104163). Binds to intronic splicing enhancer (ISE) composed of stretches of GU-rich motifs localized in flanking intron of exon that will be included by alternative splicing (By similarity). Involved in embryonic stem cell (ESC) transition to cardiac cell differentiation by promoting pre-mRNA alternative splicing events of several pluripotency and/or differentiation genes (PubMed:26990106). Plays a role in the regulation of mRNA stability (PubMed:20977548, PubMed:24356969, PubMed:24375645, PubMed:29104163). Binds to 3\'-untranslated region (UTR) AU-rich elements in target transcripts, such as CDKN1A and MYOG, leading to maintain their stabilities (PubMed:20977548, PubMed:24356969). Involved in myogenic differentiation by regulating MYOG levels (PubMed:20977548). Binds to multiple regions in the mRNA 3\'-UTR of TP63 isoform 2, hence inducing its destabilization (PubMed:24375645). Promotes also the destabilization of the CHRM2 mRNA via its binding to a region in the coding sequence (PubMed:29104163). Plays a role in the regulation of mRNA translation (PubMed:29358667). Mediates repression of p53/TP53 mRNA translation through its binding to U-rich element in the 3\'-UTR, hence preventing EIF4E from binding to p53/TP53 mRNA and translation initiation (PubMed:29358667). Binds to a huge amount of mRNAs (PubMed:29104163). Required for embryonic heart development, sarcomer and M-band formation in striated muscles (By similarity).',NULL,NULL,NULL,NULL,NULL),(2784,'UniProt Function',NULL,3514,NULL,'Binds poly(A) and poly(U) oligoribonucleotides.',NULL,NULL,NULL,NULL,NULL),(2785,'UniProt Function',NULL,3515,NULL,'May function as a nuclear transport receptor.',NULL,NULL,NULL,NULL,NULL),(2786,'UniProt Function',NULL,3518,NULL,'Putative transcription factor, which cooperates with EBNA2 to activate transcription.',NULL,NULL,NULL,NULL,NULL),(2787,'UniProt Function',NULL,3519,NULL,'Contributes to the regulation of smooth muscle cell differentiation and proliferation in the gastrointestinal system. Binds NOG mRNA. Mediates an increase of NOG mRNA levels, and thereby contributes to the negative regulation of the BMP signaling pathway. This promotes reversible dedifferentiation of smooth muscle cells and promotes smooth muscle cell proliferation.',NULL,NULL,NULL,NULL,NULL),(2788,'UniProt Function',NULL,3520,NULL,'Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development (By similarity).',NULL,NULL,NULL,NULL,NULL),(2789,'UniProt Function',NULL,3521,NULL,'May be involved in cell cycle regulation by chromatin remodeling.',NULL,NULL,NULL,NULL,NULL),(2790,'UniProt Function',NULL,3522,NULL,'RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis.',NULL,NULL,NULL,NULL,NULL),(2791,'UniProt Function',NULL,3523,NULL,'Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion (PubMed:28746876). Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system (PubMed:27667664).',NULL,NULL,NULL,NULL,NULL),(2792,'UniProt Function',NULL,3524,NULL,'Key regulator of entry into cell division that acts as a tumor suppressor. Promotes G0-G1 transition when phosphorylated by CDK3/cyclin-C. Acts as a transcription repressor of E2F1 target genes. The underphosphorylated, active form of RB1 interacts with E2F1 and represses its transcription activity, leading to cell cycle arrest. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases SUV39H1, KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 \'Lys-20\' trimethylation. Inhibits the intrinsic kinase activity of TAF1. Mediates transcriptional repression by SMARCA4/BRG1 by recruiting a histone deacetylase (HDAC) complex to the c-FOS promoter. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(2793,'UniProt Function',NULL,3524,NULL,'(Microbial infection) In case of viral infections, interactions with SV40 large T antigen, HPV E7 protein or adenovirus E1A protein induce the disassembly of RB1-E2F1 complex thereby disrupting RB1\'s activity.',NULL,NULL,NULL,NULL,NULL),(2794,'UniProt Function',NULL,3525,NULL,'Acts as a coregulator of KDM8 to promote histone demethylase activity on di- and trimethylated \'Lys-36\' (H3K36me2/me3) of histone H3 (PubMed:24981860). Plays a role in transcriptional repression of satellite repeats, possibly by regulating H3K36 methylation levels in centromeric regions together with KDM8 (PubMed:24981860). Possibly together with KDM8, involved in proper mitotic spindle organization and chromosome segregation (PubMed:24981860). Plays a role in regulating alpha-tubulin deacetylation and cytoskeletal microtubule stability and thereby promoting cell migration and TGF-beta-induced epithelial to mesenchymal transition (EMT), potentially through the inhibition of KDM8 (PubMed:28455245).',NULL,NULL,NULL,NULL,NULL),(2795,'UniProt Function',NULL,3526,NULL,'Binds GTP and exhibits intrinsic GTPase activity. May activate NF-kappa-B-mediated gene transcription. Promotes signal transduction through MTOR, activates RPS6KB1, and is a downstream target of the small GTPase-activating proteins TSC1 and TSC2.',NULL,NULL,NULL,NULL,NULL),(2796,'UniProt Function',NULL,3527,NULL,'Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to \'Lys-48\'-linked polyubiquitin chains in a length-dependent manner and with a lower affinity to \'Lys-63\'-linked polyubiquitin chains. Proposed to be capable to bind simultaneously to the 26S proteasome and to polyubiquitinated substrates and to deliver ubiquitinated proteins to the proteasome.',NULL,NULL,NULL,NULL,NULL),(2797,'UniProt Function',NULL,3527,NULL,'Involved in nucleotide excision repair and is thought to be functional equivalent for RAD23B in global genome nucleotide excision repair (GG-NER) by association with XPC. In vitro, the XPC:RAD23A dimer has NER activity. Can stabilize XPC.',NULL,NULL,NULL,NULL,NULL),(2798,'UniProt Function',NULL,3527,NULL,'(Microbial infection) Involved in Vpr-dependent replication of HIV-1 in non-proliferating cells and primary macrophages. Required for the association of HIV-1 Vpr with the host proteasome.',NULL,NULL,NULL,NULL,NULL),(2799,'UniProt Function',NULL,3528,NULL,'Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3\'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity).',NULL,NULL,NULL,NULL,NULL),(2800,'UniProt Function',NULL,3529,NULL,'Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3\'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity).',NULL,NULL,NULL,NULL,NULL),(2801,'UniProt Function',NULL,3530,NULL,'Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation.',NULL,NULL,NULL,NULL,NULL),(2802,'UniProt Function',NULL,3531,NULL,'Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species (PubMed:10332029, PubMed:12062018, PubMed:23512658, PubMed:20410308). May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery (PubMed:10198427). May be involved in ATXN1 mutant-induced cell death (PubMed:12062018). The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit (PubMed:12062018). Involved in the assembly of cytoplasmic stress granule, possibly by participating to the transport of neuronal RNA granules (PubMed:21933836). Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:26046437). Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with CGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production (PubMed:26046437).',NULL,NULL,NULL,NULL,NULL),(2803,'UniProt Function',NULL,3533,NULL,'Protein phosphatase that inactivates multifunctional CaM kinases such as CAMK4 and CAMK2 (By similarity). Dephosphorylates and inactivates PAK. May play a role in the inhibition of actin fiber stress breakdown and in morphological changes driven by TNK2/CDC42. Dephosphorylates PRKAA2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(2804,'UniProt Function',NULL,3534,NULL,'May be involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(2805,'UniProt Function',NULL,3538,NULL,'Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. Also has phospholipase activity, and can therefore either reduce the oxidized sn-2 fatty acyl grup of phospholipids (peroxidase activity) or hydrolyze the sn-2 ester bond of phospholipids (phospholipase activity). These activities are dependent on binding to phospholipids at acidic pH and to oxidized phospholipds at cytosolic pH. Plays a role in cell protection against oxidative stress by detoxifying peroxides and in phospholipid homeostasis.',NULL,NULL,NULL,NULL,NULL),(2806,'UniProt Function',NULL,3539,NULL,'Functions as a RAC guanine nucleotide exchange factor (GEF), which activates the Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. May function downstream of heterotrimeric G proteins in neutrophils.',NULL,NULL,NULL,NULL,NULL),(2807,'UniProt Function',NULL,3541,NULL,'May be involved in transcription regulation.',NULL,NULL,NULL,NULL,NULL),(2808,'UniProt Function',NULL,3542,NULL,'May play an important role in maintaining normal growth homeostasis in epithelial cells.',NULL,NULL,NULL,NULL,NULL),(2809,'UniProt Function',NULL,3543,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(2810,'UniProt Function',NULL,3544,NULL,'DNA primase is the polymerase that synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication.',NULL,NULL,NULL,NULL,NULL),(2811,'UniProt Function',NULL,3545,NULL,'Guanine nucleotide exchange factor that specifically activates the small GTPase SAR1B. Mediates the recruitement of SAR1B and other COPII coat components to endoplasmic reticulum membranes and is therefore required for the formation of COPII transport vesicles from the ER.',NULL,NULL,NULL,NULL,NULL),(2812,'UniProt Function',NULL,3545,NULL,'Was first identified based on its probable role in the regulation of pituitary gene transcription. Binds to the prolactin gene (PRL) promoter and seems to activate transcription.',NULL,NULL,NULL,NULL,NULL),(2813,'UniProt Function',NULL,3546,NULL,'Receptor for prolactin-releasing peptide (PrRP). Implicated in lactation, regulation of food intake and pain-signal processing.',NULL,NULL,NULL,NULL,NULL),(2814,'UniProt Function',NULL,3547,NULL,'The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB6 by PSMB9 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues.',NULL,NULL,NULL,NULL,NULL),(2815,'UniProt Function',NULL,3548,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Within the 20S core complex, PSMB5 displays a chymotrypsin-like activity.',NULL,NULL,NULL,NULL,NULL),(2816,'UniProt Function',NULL,3549,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.',NULL,NULL,NULL,NULL,NULL),(2817,'UniProt Function',NULL,3550,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMD4 acts as an ubiquitin receptor subunit through ubiquitin-interacting motifs and selects ubiquitin-conjugates for destruction. Displays a preferred selectivity for longer polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(2818,'UniProt Function',NULL,3551,NULL,'Guanine nucleotide exchange factor for ARF6 (PubMed:23603394). Induces cytoskeletal remodeling (By similarity).',NULL,NULL,NULL,NULL,NULL),(2819,'UniProt Function',NULL,3552,NULL,'Catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2).',NULL,NULL,NULL,NULL,NULL),(2820,'UniProt Function',NULL,3553,NULL,'Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-oxo-PGE1, 15-oxo-PGE2 and 15-oxo-PGE2-alpha. Has no activity towards PGE1, PGE2 and PGE2-alpha (By similarity). Catalyzes the conversion of leukotriene B4 into its biologically less active metabolite, 12-oxo-leukotriene B4. This is an initial and key step of metabolic inactivation of leukotriene B4.',NULL,NULL,NULL,NULL,NULL),(2821,'UniProt Function',NULL,3554,NULL,'Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto-PGE2-alpha with highest activity towards 15-keto-PGE2. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(2822,'UniProt Function',NULL,3555,NULL,'PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells.',NULL,NULL,NULL,NULL,NULL),(2823,'UniProt Function',NULL,3556,NULL,'Has capacity to bind repeated elements in single-stranded DNA such as the purine-rich single strand of the PUR element located upstream of the MYC gene. Plays a role in the control of vascular smooth muscle (VSM) alpha-actin gene transcription as repressor in myoblasts and fibroblasts. Participates in transcriptional and translational regulation of alpha-MHC expression in cardiac myocytes by binding to the purine-rich negative regulatory (PNR) element. Modulates constitutive liver galectin-3 gene transcription by binding to its promoter. May play a role in the dendritic transport of a subset of mRNAs (By similarity).',NULL,NULL,NULL,NULL,NULL),(2824,'UniProt Function',NULL,3559,NULL,'Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate.',NULL,NULL,NULL,NULL,NULL),(2825,'UniProt Function',NULL,3560,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(2826,'UniProt Function',NULL,3561,NULL,'Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable). Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death.',NULL,NULL,NULL,NULL,NULL),(2827,'UniProt Function',NULL,3563,NULL,'This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1.',NULL,NULL,NULL,NULL,NULL),(2828,'UniProt Function',NULL,3564,NULL,'Responsible for the biosynthesis of pyroglutamyl peptides. Has a bias against acidic and tryptophan residues adjacent to the N-terminal glutaminyl residue and a lack of importance of chain length after the second residue. Also catalyzes N-terminal pyroglutamate formation. In vitro, catalyzes pyroglutamate formation of N-terminally truncated form of APP amyloid-beta peptides [Glu-3]-amyloid-beta. May be involved in the N-terminal pyroglutamate formation of several amyloid-related plaque-forming peptides.',NULL,NULL,NULL,NULL,NULL),(2829,'UniProt Function',NULL,3565,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).',NULL,NULL,NULL,NULL,NULL),(2830,'UniProt Function',NULL,3567,NULL,'Lipid transporter involved in lipid countertransport between the Golgi complex and membranes of the endoplasmic reticulum: specifically exchanges sterol with phosphatidylinositol 4-phosphate (PI4P), delivering sterol to the Golgi in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum (PubMed:24209621). Binds cholesterol and a range of oxysterols including 25-hydroxycholesterol (PubMed:15746430, PubMed:17428193). Cholesterol binding promotes the formation of a complex with PP2A and a tyrosine phosphatase which dephosphorylates ERK1/2, whereas 25-hydroxycholesterol causes its disassembly (PubMed:15746430). Regulates cholesterol efflux by decreasing ABCA1 stability (PubMed:18450749).',NULL,NULL,NULL,NULL,NULL),(2831,'UniProt Function',NULL,3570,NULL,'Transcription factor that plays a role in the regulation of embryonic heart and urogenital development.',NULL,NULL,NULL,NULL,NULL),(2832,'UniProt Function',NULL,3571,NULL,'Constitutes 1-2% of the total bone protein. It binds strongly to apatite and calcium.',NULL,NULL,NULL,NULL,NULL),(2833,'UniProt Function',NULL,3572,NULL,'Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. Specifically involved in maintaining stability of STT3A-containing OST complexes.',NULL,NULL,NULL,NULL,NULL),(2834,'UniProt Function',NULL,3573,NULL,'Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Required for the assembly of both SST3A- and SS3B-containing OST complexes. Required for efficient N-glycosylation.',NULL,NULL,NULL,NULL,NULL),(2835,'UniProt Function',NULL,3573,NULL,'Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (By similarity). Required for the assembly of both SST3A- and SS3B-containing OST complexes (PubMed:22467853).',NULL,NULL,NULL,NULL,NULL),(2836,'UniProt Function',NULL,3574,NULL,'Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. May be involved in N-glycosylation of APP (amyloid-beta precursor protein). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1.',NULL,NULL,NULL,NULL,NULL),(2837,'UniProt Function',NULL,3575,NULL,'Induces bone resorption, acting probably through a signaling cascade which results in the secretion of factor(s) enhancing osteoclast formation and activity.',NULL,NULL,NULL,NULL,NULL),(2838,'UniProt Function',NULL,3576,NULL,'Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10 (PubMed:15009664). In case of infection by picornaviruses, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:21518806).',NULL,NULL,NULL,NULL,NULL),(2839,'UniProt Function',NULL,3577,NULL,'Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog\'s proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(2840,'UniProt Function',NULL,3578,NULL,'Hydrolase that can remove conjugated ubiquitin from proteins and participates in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by triming the ubiquitin chain on the associated substrate to facilitate their threading through the VCP/p97 pore. Ubiquitin moieties on substrates may present a steric impediment to the threading process when the substrate is transferred to the VCP pore and threaded through VCP\'s axial channel. Mediates deubiquitination of \'Lys-27\'-, \'Lys-29\'- and \'Lys-33\'-linked polyubiquitin chains. Also able to hydrolyze \'Lys-11\'-linked ubiquitin chains. Cleaves both polyubiquitin and di-ubiquitin. May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes. May recruit PLAA, UBXN6 and VCP to damaged lysosome membranes decorated with K48-linked ubiquitin chains and remove these chains allowing autophagosome formation (PubMed:27753622).',NULL,NULL,NULL,NULL,NULL),(2841,'UniProt Function',NULL,3579,NULL,'Moderately selective excitatory receptor for orexin-A and, with a lower affinity, for orexin-B neuropeptide (PubMed:9491897, PubMed:26950369). Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding (PubMed:9491897, PubMed:26950369).',NULL,NULL,NULL,NULL,NULL),(2842,'UniProt Function',NULL,3580,NULL,'Hydrolase that can remove conjugated ubiquitin from proteins in vitro and may therefore play an important regulatory role at the level of protein turnover by preventing degradation. Mediates deubiquitination of \'Lys-11\'-,\'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains, with a preference for \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(2843,'UniProt Function',NULL,3581,NULL,'Stimulates feeding behavior, metabolic rate and locomotor activity and increases blood pressure. May have orexigenic activity. May promote aldosterone secretion by the adrenal gland (By similarity).',NULL,NULL,NULL,NULL,NULL),(2844,'UniProt Function',NULL,3582,NULL,'Costimulates T-cell proliferation. May regulate myeloid cell activity in a variety of tissues.',NULL,NULL,NULL,NULL,NULL),(2845,'UniProt Function',NULL,3583,NULL,'Involved in mitochondrial RNA maturation and mitochondrial respiratory chain function.',NULL,NULL,NULL,NULL,NULL),(2846,'UniProt Function',NULL,3584,NULL,'Mitochondrial RNA-binding protein that has a role in mitochondrial translation.',NULL,NULL,NULL,NULL,NULL),(2847,'UniProt Function',NULL,3585,NULL,'Deubiquitinating enzyme that functions as negative regulator of the innate immune system. Acts via TRAF3 deubiquitination and subsequent suppression of type I interferon (IFN) production. Has peptidase activity towards \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains. Can also cleave \'Lys-11\'-linked ubiquitin chains (in vitro).',NULL,NULL,NULL,NULL,NULL),(2848,'UniProt Function',NULL,3586,NULL,'May act as a transcription regulator.',NULL,NULL,NULL,NULL,NULL),(2849,'UniProt Function',NULL,3587,NULL,'The pre-T-cell receptor complex (composed of PTCRA, TCRB and the CD3 complex) regulates early T-cell development.',NULL,NULL,NULL,NULL,NULL),(2850,'UniProt Function',NULL,3588,NULL,'Selectively catalyzes the oxidative deamination of D-aspartate and its N-methylated derivative, N-methyl D-aspartate.',NULL,NULL,NULL,NULL,NULL),(2851,'UniProt Function',NULL,3589,NULL,'Selectively hydrolyzes arachidonyl phospholipids in the sn-2 position releasing arachidonic acid. Together with its lysophospholipid activity, it is implicated in the initiation of the inflammatory response.',NULL,NULL,NULL,NULL,NULL),(2852,'UniProt Function',NULL,3590,NULL,'Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position with a preference for arachidonoyl phospholipids. Has a much weaker activity than PLA2G4A. Isoform 3 has calcium-dependent activity against palmitoyl-arachidonyl-phosphatidylethanolamine and low level lysophospholipase activity but no activity against phosphatidylcholine. Isoform 5 does have activity against phosphatidylcholine.',NULL,NULL,NULL,NULL,NULL),(2853,'UniProt Function',NULL,3591,NULL,'PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. L-alpha-1-palmitoyl-2-linoleoyl phosphatidylethanolamine is more efficiently hydrolyzed than the other phospholipids examined.',NULL,NULL,NULL,NULL,NULL),(2854,'UniProt Function',NULL,3592,NULL,'May play a role in regulating cell adhesion/migration complexes in migrating cells.',NULL,NULL,NULL,NULL,NULL),(2855,'UniProt Function',NULL,3593,NULL,'Binding to its receptor activates G proteins and stimulates adenylate cyclase in pituitary cells. Promotes neuron projection development through the RAPGEF2/Rap1/B-Raf/ERK pathway. In chromaffin cells, induces long-lasting increase of intracellular calcium concentrations and neuroendocrine secretion (By similarity). Involved in the control of glucose homeostasis, induces insulin secretion by pancreatic beta cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(2856,'UniProt Function',NULL,3594,NULL,'Suppresses cell death induced by accumulation of unfolded Pael receptor (Pael-R, a substrate of Parkin). Facilitates the formation of inclusions consisting of Pael-R, molecular chaperones, protein degradation molecules and itself when proteasome is inhibited. May play an important role in the formation of Lewy bodies and protection of dopaminergic neurons against Parkinson disease.',NULL,NULL,NULL,NULL,NULL),(2857,'UniProt Function',NULL,3595,NULL,'Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin-coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN.',NULL,NULL,NULL,NULL,NULL),(2858,'UniProt Function',NULL,3596,NULL,'Has a marked selectivity for phospholipids with short acyl chains at the sn-2 position. May share a common physiologic function with the plasma-type enzyme.',NULL,NULL,NULL,NULL,NULL),(2859,'UniProt Function',NULL,3597,NULL,'Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo (By similarity).',NULL,NULL,NULL,NULL,NULL),(2860,'UniProt Function',NULL,3599,NULL,'Has transacylase and calcium-independent phospholipase A2 activity (PubMed:20410020, PubMed:23958596). Catalyzes the formation of 1-O-acyl-N-acetylsphingosine and the concomitant release of a lyso-phospholipid (PubMed:11790796, PubMed:25727495). Has high activity with 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine (POPC) and 1,2-dioleoyl-sn-glycero-3-phosphocholine (DOPC), catalyzing the transfer of oleic acid to N-acetyl-sphingosine. Required for normal phospholipid degradation in alveolar and peritoneal macrophages and in spleen (By similarity). May have weak lysophospholipase activity (PubMed:10092508).',NULL,NULL,NULL,NULL,NULL),(2861,'UniProt Function',NULL,3600,NULL,'Serine protease inhibitor. Inhibits TMPRSS7 (PubMed:15853774). Is a primary inhibitor of tissue-type plasminogen activator (PLAT) and urokinase-type plasminogen activator (PLAU). As PLAT inhibitor, it is required for fibrinolysis down-regulation and is responsible for the controlled degradation of blood clots (PubMed:8481516, PubMed:9207454, PubMed:17912461). As PLAU inhibitor, it is involved in the regulation of cell adhesion and spreading (PubMed:9175705). Acts as a regulator of cell migration, independently of its role as protease inhibitor (PubMed:15001579, PubMed:9168821). It is required for stimulation of keratinocyte migration during cutaneous injury repair (PubMed:18386027). It is involved in cellular and replicative senescence (PubMed:16862142). Plays a role in alveolar type 2 cells senescence in the lung (By similarity). Is involved in the regulation of cementogenic differentiation of periodontal ligament stem cells, and regulates odontoblast differentiation and dentin formation during odontogenesis (PubMed:25808697, PubMed:27046084).',NULL,NULL,NULL,NULL,NULL),(2862,'UniProt Function',NULL,3601,NULL,'Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, proliferation or cell survival. Activation by various effectors including growth factor receptors or active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates the proto-oncogene RAF1 and stimulates its kinase activity. Promotes cell survival by phosphorylating the BCL2 antagonist of cell death BAD. Phosphorylates CTNND1, probably to regulate cytoskeletal organization and cell morphology. Keeps microtubules stable through MARK2 inhibition and destabilizes the F-actin network leading to the disappearance of stress fibers and focal adhesions.',NULL,NULL,NULL,NULL,NULL),(2863,'UniProt Function',NULL,3602,NULL,'PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity).',NULL,NULL,NULL,NULL,NULL),(2864,'UniProt Function',NULL,3603,NULL,'PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity).',NULL,NULL,NULL,NULL,NULL),(2865,'UniProt Function',NULL,3604,NULL,'PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity).',NULL,NULL,NULL,NULL,NULL),(2866,'UniProt Function',NULL,3606,NULL,'Acts as a transcriptional repressor for CRX-activated photoreceptor gene regulation.',NULL,NULL,NULL,NULL,NULL),(2867,'UniProt Function',NULL,3607,NULL,'Polymerase that creates the 3\' poly(A) tail of mitochondrial transcripts. Can use all four nucleotides, but has higher activity with ATP and UTP (in vitro). Plays a role in replication-dependent histone mRNA degradation. May be involved in the terminal uridylation of mature histone mRNAs before their degradation is initiated. Might be responsible for the creation of some UAA stop codons which are not encoded in mtDNA.',NULL,NULL,NULL,NULL,NULL),(2868,'UniProt Function',NULL,3608,NULL,'Polymerase that creates the 3\'-poly(A) tail of mRNA\'s. Also required for the endoribonucleolytic cleavage reaction at some polyadenylation sites. May acquire specificity through interaction with a cleavage and polyadenylation specificity factor (CPSF) at its C-terminus.',NULL,NULL,NULL,NULL,NULL),(2869,'UniProt Function',NULL,3609,NULL,'May be the master regulator of the CoA biosynthesis.',NULL,NULL,NULL,NULL,NULL),(2870,'UniProt Function',NULL,3611,NULL,'Receptor for activated thrombin or trypsin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation.',NULL,NULL,NULL,NULL,NULL),(2871,'UniProt Function',NULL,3612,NULL,'Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (PubMed:10873802). Regulates centrosome organization and function. Essential for the centrosomal recruitment of key proteins that control centrosomal microtubule organization (PubMed:20719959).',NULL,NULL,NULL,NULL,NULL),(2872,'UniProt Function',NULL,3614,NULL,'Pro-apoptopic protein capable of selectively inducing apoptosis in cancer cells, sensitizing the cells to diverse apoptotic stimuli and causing regression of tumors in animal models. Induces apoptosis in certain cancer cells by activation of the Fas prodeath pathway and coparallel inhibition of NF-kappa-B transcriptional activity. Inhibits the transcriptional activation and augments the transcriptional repression mediated by WT1. Down-regulates the anti-apoptotic protein BCL2 via its interaction with WT1. Seems also to be a transcriptional repressor by itself. May be directly involved in regulating the amyloid precursor protein (APP) cleavage activity of BACE1.',NULL,NULL,NULL,NULL,NULL),(2873,'UniProt Function',NULL,3615,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(2874,'UniProt Function',NULL,3616,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(2875,'UniProt Function',NULL,3617,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(2876,'UniProt Function',NULL,3618,NULL,'Component of pre-mRNA cleavage complex II.',NULL,NULL,NULL,NULL,NULL),(2877,'UniProt Function',NULL,3619,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. In the complex, PSMD11 is required for proteasome assembly. Plays a key role in increased proteasome activity in embryonic stem cells (ESCs): its high expression in ESCs promotes enhanced assembly of the 26S proteasome, followed by higher proteasome activity.',NULL,NULL,NULL,NULL,NULL),(2878,'UniProt Function',NULL,3620,NULL,'Guanine nucleotide exchange factor for ARF6 and ARL14/ARF7. Through ARL14 activation, controls the movement of MHC class II-containing vesicles along the actin cytoskeleton in dendritic cells. Involved in membrane recycling. Interacts with several phosphatidylinositol phosphate species, including phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 4,5-bisphosphate.',NULL,NULL,NULL,NULL,NULL),(2879,'UniProt Function',NULL,3621,NULL,'Protein tyrosine phosphatase that negatively regulates oligodendrocyte precursor proliferation in the embryonic spinal cord. Required for normal differentiation of the precursor cells into mature, fully myelinating oligodendrocytes. May play a role in protecting oligondendrocytes against apoptosis. May play a role in the establishment of contextual memory, probably via the dephosphorylation of proteins that are part of important signaling cascades (By similarity).',NULL,NULL,NULL,NULL,NULL),(2880,'UniProt Function',NULL,3622,NULL,'Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. In membranes, PTDSS1 catalyzes mainly the conversion of phosphatidylcholine. Also converts, in vitro and to a lesser extent, phosphatidylethanolamine.',NULL,NULL,NULL,NULL,NULL),(2881,'UniProt Function',NULL,3623,NULL,'Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3\'-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5\'-UGUANAUA-3\', that is related to the Nanos Response Element (NRE) (, PubMed:21397187). Mediates post-transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation (PubMed:22955276). Also mediates deadenylation-independent repression by promoting accessibility of miRNAs (PubMed:18776931, PubMed:22345517). Acts as a post-transcriptional repressor of E2F3 mRNAs by binding to its 3\'-UTR and facilitating miRNA regulation (PubMed:22345517). Plays a role in cytoplasmic sensing of viral infection (PubMed:25340845). Represses a program of genes necessary to maintain genomic stability such as key mitotic, DNA repair and DNA replication factors. Its ability to repress those target mRNAs is regulated by the lncRNA NORAD (non-coding RNA activated by DNA damage) which, due to its high abundance and multitude of PUMILIO binding sites, is able to sequester a significant fraction of PUM1 and PUM2 in the cytoplasm (PubMed:26724866). May regulate DCUN1D3 mRNA levels (PubMed:25349211). May support proliferation and self-renewal of stem cells. Binds specifically to miRNA MIR199A precursor, with PUM1, regulates miRNA MIR199A expression at a postranscriptional level (PubMed:28431233).',NULL,NULL,NULL,NULL,NULL),(2882,'UniProt Function',NULL,3625,NULL,'Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3\'-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5\'-UGUANAUA-3\', that is related to the Nanos Response Element (NRE) (PubMed:21572425, PubMed:18328718, PubMed:21653694, PubMed:21397187). Mediates post-transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation (PubMed:22955276). Also mediates deadenylation-independent repression by promoting accessibility of miRNAs (PubMed:18776931, PubMed:20818387, PubMed:20860814, PubMed:22345517). Following growth factor stimulation, phosphorylated and binds to the 3\'-UTR of CDKN1B/p27 mRNA, inducing a local conformational change that exposes miRNA-binding sites, promoting association of miR-221 and miR-222, efficient suppression of CDKN1B/p27 expression, and rapid entry to the cell cycle (PubMed:20818387). Acts as a post-transcriptional repressor of E2F3 mRNAs by binding to its 3\'-UTR and facilitating miRNA regulation (PubMed:22345517, PubMed:29474920). Represses a program of genes necessary to maintain genomic stability such as key mitotic, DNA repair and DNA replication factors. Its ability to repress those target mRNAs is regulated by the lncRNA NORAD (non-coding RNA activated by DNA damage) which, due to its high abundance and multitude of PUMILIO binding sites, is able to sequester a significant fraction of PUM1 and PUM2 in the cytoplasm (PubMed:26724866). Involved in neuronal functions by regulating ATXN1 mRNA levels: acts by binding to the 3\'-UTR of ATXN1 transcripts, leading to their down-regulation independently of the miRNA machinery (PubMed:25768905, PubMed:29474920). Plays a role in cytoplasmic sensing of viral infection (PubMed:25340845). In testis, acts as a post-transcriptional regulator of spermatogenesis by binding to the 3\'-UTR of mRNAs coding for regulators of p53/TP53. Involved in embryonic stem cell renewal by facilitating the exit from the ground state: acts by targeting mRNAs coding for naive pluripotency transcription factors and accelerates their down-regulation at the onset of differentiation (By similarity). Binds specifically to miRNA MIR199A precursor, with PUM2, regulates miRNA MIR199A expression at a postranscriptional level (PubMed:28431233).',NULL,NULL,NULL,NULL,NULL),(2883,'UniProt Function',NULL,3627,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(2884,'UniProt Function',NULL,3629,NULL,'Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.',NULL,NULL,NULL,NULL,NULL),(2885,'UniProt Function',NULL,3633,NULL,'This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. The core protein 2 is required for the assembly of the complex.',NULL,NULL,NULL,NULL,NULL),(2886,'UniProt Function',NULL,3634,NULL,'Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection.',NULL,NULL,NULL,NULL,NULL),(2887,'UniProt Function',NULL,3635,NULL,'May participate in a common DNA damage response pathway associated with the activation of homologous recombination and double-strand break repair. Functionally cooperates with PALB2 in promoting of D-loop formation by RAD51. Binds to single and double stranded DNA, and is capable of aggregating DNA. Also binds RNA.',NULL,NULL,NULL,NULL,NULL),(2888,'UniProt Function',NULL,3636,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB1A regulates vesicular protein transport from the endoplasmic reticulum (ER) to the Golgi compartment and on to the cell surface, and plays a role in IL-8 and growth hormone secretion. Regulates the level of CASR present at the cell membrane. Plays a role in cell adhesion and cell migration, via its role in protein trafficking. Plays a role in autophagosome assembly and cellular defense reactions against pathogenic bacteria. Plays a role in microtubule-dependent protein transport by early endosomes and in anterograde melanosome transport.',NULL,NULL,NULL,NULL,NULL),(2889,'UniProt Function',NULL,3637,NULL,'Protein transport. Regulator of membrane traffic from the Golgi apparatus towards the endoplasmic reticulum (ER). Has a low GTPase activity. Involved in COPI-independent retrograde transport from the Golgi to the ER (PubMed:25962623).',NULL,NULL,NULL,NULL,NULL),(2890,'UniProt Function',NULL,3638,NULL,'Acts as a chaperone during the assembly of the 26S proteasome, specifically of the PA700/19S regulatory complex (RC). In the initial step of the base subcomplex assembly is part of an intermediate PSMD10:PSMC4:PSMC5:PAAF1 module which probably assembles with a PSMD5:PSMC2:PSMC1:PSMD2 module. Independently of the proteasome, regulates EGF-induced AKT activation through inhibition of the RHOA/ROCK/PTEN pathway, leading to prolonged AKT activation. Plays an important role in RAS-induced tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(2891,'UniProt Function',NULL,3638,NULL,'Acts as an proto-oncoprotein by being involved in negative regulation of tumor suppressors RB1 and p53/TP53. Overexpression is leading to phosphorylation of RB1 and proteasomal degradation of RB1. Regulates CDK4-mediated phosphorylation of RB1 by competing with CDKN2A for binding with CDK4. Facilitates binding of MDM2 to p53/TP53 and the mono- and polyubiquitination of p53/TP53 by MDM2 suggesting a function in targeting the TP53:MDM2 complex to the 26S proteasome. Involved in p53-independent apoptosis. Involved in regulation of NF-kappa-B by retaining it in the cytoplasm. Binds to the NF-kappa-B component RELA and accelerates its XPO1/CRM1-mediated nuclear export.',NULL,NULL,NULL,NULL,NULL),(2892,'UniProt Function',NULL,3639,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.',NULL,NULL,NULL,NULL,NULL),(2893,'UniProt Function',NULL,3640,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.',NULL,NULL,NULL,NULL,NULL),(2894,'UniProt Function',NULL,3641,NULL,'This is a specific receptor for parathyroid hormone. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. PTH2R may be responsible for PTH effects in a number of physiological systems. It may play a significant role in pancreatic function. PTH2R presence in neurons indicates that it may function as a neurotransmitter receptor (By similarity).',NULL,NULL,NULL,NULL,NULL),(2895,'UniProt Function',NULL,3643,NULL,'Possesses tyrosine phosphatase activity. Plays a role in regulating the glomerular pressure/filtration rate relationship through an effect on podocyte structure and function (By similarity).',NULL,NULL,NULL,NULL,NULL),(2896,'UniProt Function',NULL,3644,NULL,'Sequesters mitogen-activated protein kinases (MAPKs) such as MAPK1, MAPK3 and MAPK14 in the cytoplasm in an inactive form. The MAPKs bind to a dephosphorylated kinase interacting motif, phosphorylation of which by the protein kinase A complex releases the MAPKs for activation and translocation into the nucleus (By similarity).',NULL,NULL,NULL,NULL,NULL),(2897,'UniProt Function',NULL,3645,NULL,'Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. PTDSS2 is specific for phosphatatidylethanolamine and does not act on phosphatidylcholine.',NULL,NULL,NULL,NULL,NULL),(2898,'UniProt Function',NULL,3646,NULL,'Regulatory protein, which plays a central role in chromosome stability, in the p53/TP53 pathway, and DNA repair. Probably acts by blocking the action of key proteins. During the mitosis, it blocks Separase/ESPL1 function, preventing the proteolysis of the cohesin complex and the subsequent segregation of the chromosomes. At the onset of anaphase, it is ubiquitinated, conducting to its destruction and to the liberation of ESPL1. Its function is however not limited to a blocking activity, since it is required to activate ESPL1. Negatively regulates the transcriptional activity and related apoptosis activity of TP53. The negative regulation of TP53 may explain the strong transforming capability of the protein when it is overexpressed. May also play a role in DNA repair via its interaction with Ku, possibly by connecting DNA damage-response pathways with sister chromatid separation.',NULL,NULL,NULL,NULL,NULL),(2899,'UniProt Function',NULL,3648,NULL,'Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.',NULL,NULL,NULL,NULL,NULL),(2900,'UniProt Function',NULL,3649,NULL,'Chromatin-associated factor that regulates transcription (PubMed:29065309). Regulates Pol I-mediated rRNA biogenesis and, probably, Pol III-mediated transcription (PubMed:29065309). Regulates the epigenetic status of rDNA (PubMed:29065309).',NULL,NULL,NULL,NULL,NULL),(2901,'UniProt Function',NULL,3650,NULL,'Cell surface receptor for NECTIN2. May act as a coinhibitory receptor that suppresses T-cell receptor-mediated signals. Following interaction with NECTIN2, inhibits T-cell proliferation. Competes with CD226 for NECTIN2-binding.',NULL,NULL,NULL,NULL,NULL),(2902,'UniProt Function',NULL,3651,NULL,'Mediates NK cell adhesion and triggers NK cell effector functions. Binds two different NK cell receptors: CD96 and CD226. These interactions accumulates at the cell-cell contact site, leading to the formation of a mature immunological synapse between NK cell and target cell. This may trigger adhesion and secretion of lytic granules and IFN-gamma and activate cytoxicity of activated NK cells. May also promote NK cell-target cell modular exchange, and PVR transfer to the NK cell. This transfer is more important in some tumor cells expressing a lot of PVR, and may trigger fratricide NK cell activation, providing tumors with a mechanism of immunoevasion. Plays a role in mediating tumor cell invasion and migration.',NULL,NULL,NULL,NULL,NULL),(2903,'UniProt Function',NULL,3651,NULL,'(Microbial infection) Acts as a receptor for poliovirus. May play a role in axonal transport of poliovirus, by targeting virion-PVR-containing endocytic vesicles to the microtubular network through interaction with DYNLT1. This interaction would drive the virus-containing vesicle to the axonal retrograde transport.',NULL,NULL,NULL,NULL,NULL),(2904,'UniProt Function',NULL,3651,NULL,'(Microbial infection) Acts as a receptor for Pseudorabies virus.',NULL,NULL,NULL,NULL,NULL),(2905,'UniProt Function',NULL,3651,NULL,'(Microbial infection) Is prevented to reach cell surface upon infection by Human cytomegalovirus /HHV-5, presumably to escape immune recognition of infected cell by NK cells.',NULL,NULL,NULL,NULL,NULL),(2906,'UniProt Function',NULL,3652,NULL,'Responsible for the 2-O-dephosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature glycosaminoglycan (GAG) chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-dephosphorylation during completion of linkage region formation is a prerequisite for the initiation and efficient elongation of the repeating disaccharide region of GAG chains.',NULL,NULL,NULL,NULL,NULL),(2907,'UniProt Function',NULL,3653,NULL,'Glycogen phosphorylase that regulates glycogen mobilization (PubMed:27402852). Phosphorylase is an important allosteric enzyme in carbohydrate metabolism (PubMed:3346228). Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates (PubMed:3346228). However, all known phosphorylases share catalytic and structural properties (PubMed:3346228).',NULL,NULL,NULL,NULL,NULL),(2908,'UniProt Function',NULL,3654,NULL,'Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.',NULL,NULL,NULL,NULL,NULL),(2909,'UniProt Function',NULL,3655,NULL,'Involved in signal transduction through the Wnt pathway.',NULL,NULL,NULL,NULL,NULL),(2910,'UniProt Function',NULL,3657,NULL,'Protein transport. Probably involved in vesicular traffic (By similarity).',NULL,NULL,NULL,NULL,NULL),(2911,'UniProt Function',NULL,3659,NULL,'Coreceptor for SEMA3A. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity).',NULL,NULL,NULL,NULL,NULL),(2912,'UniProt Function',NULL,3660,NULL,'Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.',NULL,NULL,NULL,NULL,NULL),(2913,'UniProt Function',NULL,3661,NULL,'3\'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails (PubMed:27515512). Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development (PubMed:27515512). May act as a regulator of multipotency in embryonic stem cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(2914,'UniProt Function',NULL,3662,NULL,'Essential for the assembly of the distal half of centrioles, required for centriole elongation.',NULL,NULL,NULL,NULL,NULL),(2915,'UniProt Function',NULL,3663,NULL,'May play a role in spermatozoa mobility.',NULL,NULL,NULL,NULL,NULL),(2916,'UniProt Function',NULL,3664,NULL,'Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation.',NULL,NULL,NULL,NULL,NULL),(2917,'UniProt Function',NULL,3665,NULL,'Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Plays an important role in glycogen synthesis but is not essential for insulin activation of glycogen synthase (By similarity).',NULL,NULL,NULL,NULL,NULL),(2918,'UniProt Function',NULL,3666,NULL,'Enzyme with a broad specificity. Negatively regulates TGF-beta signaling through dephosphorylating SMAD2 and SMAD3, resulting in their dissociation from SMAD4, nuclear export of the SMADs and termination of the TGF-beta-mediated signaling. Dephosphorylates PRKAA1 and PRKAA2. Plays an important role in the termination of TNF-alpha-mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB.',NULL,NULL,NULL,NULL,NULL),(2919,'UniProt Function',NULL,3667,NULL,'Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage. Found at the ends of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of chromosomal end fusion. Also involved in modulation of transcription. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates \'Ser-139\' of histone variant H2AX/H2AFX, thereby regulating DNA damage response mechanism. Phosphorylates DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, SRF, XRCC1, XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2. Can phosphorylate C1D not only in the presence of linear DNA but also in the presence of supercoiled DNA. Ability to phosphorylate p53/TP53 in the presence of supercoiled DNA is dependent on C1D. Contributes to the determination of the circadian period length by antagonizing phosphorylation of CRY1 \'Ser-588\' and increasing CRY1 protein stability, most likely through an indirect mechanism. Interacts with CRY1 and CRY2; negatively regulates CRY1 phosphorylation. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway.',NULL,NULL,NULL,NULL,NULL),(2920,'UniProt Function',NULL,3668,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Within the 20S core complex, PSMB6 displays a peptidylglutamyl-hydrolizing activity also termed postacidic or caspase-like activity, meaning that the peptides bond hydrolysis occurs directly after acidic residues.',NULL,NULL,NULL,NULL,NULL),(2921,'UniProt Function',NULL,3669,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(2922,'UniProt Function',NULL,3670,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.',NULL,NULL,NULL,NULL,NULL),(2923,'UniProt Function',NULL,3671,NULL,'Inactive tyrosine kinase involved in Wnt signaling pathway. Component of both the non-canonical (also known as the Wnt/planar cell polarity signaling) and the canonical Wnt signaling pathway. Functions in cell adhesion, cell migration, cell polarity, proliferation, actin cytoskeleton reorganization and apoptosis. Has a role in embryogenesis, epithelial tissue organization and angiogenesis.',NULL,NULL,NULL,NULL,NULL),(2924,'UniProt Function',NULL,3672,NULL,'Prothymosin alpha may mediate immune function by conferring resistance to certain opportunistic infections.',NULL,NULL,NULL,NULL,NULL),(2925,'UniProt Function',NULL,3673,NULL,'DNA-dependent ATPase and 5\'-3\' DNA helicase required for the maintenance of both mitochondrial and nuclear genome stability. Efficiently unwinds G-quadruplex (G4) DNA structures and forked RNA-DNA hybrids. Resolves G4 structures, preventing replication pausing and double-strand breaks (DSBs) at G4 motifs. Involved in the maintenance of telomeric DNA. Inhibits telomere elongation, de novo telomere formation and telomere addition to DSBs via catalytic inhibition of telomerase. Reduces the processivity of telomerase by displacing active telomerase from DNA ends. Releases telomerase by unwinding the short telomerase RNA/telomeric DNA hybrid that is the intermediate in the telomerase reaction. Possesses an intrinsic strand annealing activity.',NULL,NULL,NULL,NULL,NULL),(2926,'UniProt Function',NULL,3674,NULL,'Plays a role in ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(2927,'UniProt Function',NULL,3674,NULL,'Isoform 1: Pericentriolar protein required to maintain mitotic spindle pole integrity (PubMed:21224392). Required for the centrosomal accumulation of PCM1 and the recruitment of centriolar satellite proteins such as BBS4. Via association with PCM1 may be involved in primary cilia formation (PubMed:23110211). Required for CEP63 centrosomal localization and its interaction with WDR62. Together with CEP63 promotes centriole duplication. Promotes the centrosomal localization of CDK2 (PubMed:26297806).',NULL,NULL,NULL,NULL,NULL),(2928,'UniProt Function',NULL,3674,NULL,'Isoform 4: The secreted form is a mediator of progesterone that by acting on the phospholipase A2 enzyme interferes with arachidonic acid metabolism, induces a Th2 biased immune response, and by controlling decidual naturakl killer cells (NK) activity exerts an anti-abortive effect (PubMed:14634107, PubMed:3863495, PubMed:12516630). Increases the production of Th2-type cytokines by signaling via the JAK/STAT pathway. Activates STAT6 and inhibits STAT4 phosphorylation. Signaling via a not identified receptor seems to implicate IL4R and a GPI-anchored protein (PubMed:16393965, PubMed:25218441).',NULL,NULL,NULL,NULL,NULL),(2929,'UniProt Function',NULL,3675,NULL,'Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to form phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4-phosphate 5-kinases given the abundance of PtdIns4P. Participates in a variety of cellular processes such as vesicle mediated transport, cell adhesion, cell polarization and cell migration. Together with PIP5K1A is required for phagocytosis, but they regulate different types of actin remodeling at sequential steps. Promotes particle attachment by generating the pool of PtdIns(4,5)P2 that induces controlled actin depolymerization to facilitate Fc-gamma-R clustering. Mediates RAC1-dependent reorganization of actin filaments. Required for synaptic vesicle transport. Controls the plasma membrane pool of PtdIns(4,5)P2 implicated in synaptic vesicle endocytosis and exocytosis. Plays a role in endocytosis mediated by clathrin and AP-2 (adaptor protein complex 2). Required for clathrin-coated pits assembly at the synapse. Participates in cell junction assembly. Modulates adherens junctions formation by facilitating CDH1 trafficking. Required for focal adhesion dynamics. Modulates the targeting of talins (TLN1 and TLN2) to the plasma membrane and their efficient assembly into focal adhesions. Regulates the interaction between talins (TLN1 and TLN2) and beta-integrins. Required for uropodium formation and retraction of the cell rear during directed migration. Has a role in growth factor- stimulated directional cell migration and adhesion. Required for talin assembly into nascent adhesions forming at the leading edge toward the direction of the growth factor. Negative regulator of T-cell activation and adhesion. Negatively regulates integrin alpha-L/beta-2 (LFA-1) polarization and adhesion induced by T-cell receptor. Together with PIP5K1A has a role during embryogenesis and together with PIP5K1B may have a role immediately after birth.',NULL,NULL,NULL,NULL,NULL),(2930,'UniProt Function',NULL,3678,NULL,'Involved in retrograde transport of recycling endosomes.',NULL,NULL,NULL,NULL,NULL),(2931,'UniProt Function',NULL,3679,NULL,'Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix.',NULL,NULL,NULL,NULL,NULL),(2932,'UniProt Function',NULL,3681,NULL,'In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1 from focal adhesions to podocyte lamellipodia.',NULL,NULL,NULL,NULL,NULL),(2933,'UniProt Function',NULL,3685,NULL,'Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand-mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, FGFR1, FGFR2, FGFR3 and FGFR4. Plays a role in actin reorganization and cell migration.',NULL,NULL,NULL,NULL,NULL),(2934,'UniProt Function',NULL,3686,NULL,'May play an important regulatory role in corticotrophs.',NULL,NULL,NULL,NULL,NULL),(2935,'UniProt Function',NULL,3691,NULL,'Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3\',5\'-diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange mechanism. Inhibited by pyridoxal 5\'-phosphate and bathophenanthroline in vitro.',NULL,NULL,NULL,NULL,NULL),(2936,'UniProt Function',NULL,3693,NULL,'Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(2937,'UniProt Function',NULL,3694,NULL,'Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(2938,'UniProt Function',NULL,3695,NULL,'Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution (By similarity).',NULL,NULL,NULL,NULL,NULL),(2939,'UniProt Function',NULL,3696,NULL,'Multifunctional transcription factor with different regions mediating its different effects. Acts by binding (via its C-terminal domain) to sequences related to the consensus octamer motif 5\'-ATGCAAAT-3\' in the regulatory regions of its target genes. Regulates the expression of specific genes involved in differentiation and survival within a subset of neuronal lineages. It has been shown that activation of some of these genes requires its N-terminal domain, maybe through a neuronal-specific cofactor. Ativates BCL2 expression and protects neuronal cells from apoptosis (via the N-terminal domain). Induces neuronal process outgrowth and the coordinate expression of genes encoding synaptic proteins. Exerts its major developmental effects in somatosensory neurons and in brainstem nuclei involved in motor control. Stimulates the binding affinity of the nuclear estrogene receptor ESR1 to DNA estrogen response element (ERE), and hence modulates ESR1-induced transcriptional activity. May positively regulate POU4F2 and POU4F3. Regulates dorsal root ganglion sensory neuron specification and axonal projection into the spinal cord. Plays a role in TNFSF11-mediated terminal osteoclast differentiation. Negatively regulates its own expression interacting directly with a highly conserved autoregulatory domain surrounding the transcription initiation site.',NULL,NULL,NULL,NULL,NULL),(2940,'UniProt Function',NULL,3696,NULL,'Isoform 2: Able to act as transcription factor, cannot regulate the expression of the same subset of genes than isoform 1. Does not have antiapoptotic effect on neuronal cells.',NULL,NULL,NULL,NULL,NULL),(2941,'UniProt Function',NULL,3697,NULL,'Hydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection of low density lipoproteins against oxidative modification and the consequent series of events leading to atheroma formation.',NULL,NULL,NULL,NULL,NULL),(2942,'UniProt Function',NULL,3699,NULL,'PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(2943,'UniProt Function',NULL,3700,NULL,'Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity).',NULL,NULL,NULL,NULL,NULL),(2944,'UniProt Function',NULL,3701,NULL,'In view of the small size of the putative binding pocket, it has been proposed that it may act as an amidase or a peptidase (By similarity). Exhibits a weak phospholipase activity, acting on various phospholipids, including phosphatidylcholine, phosphatidylinositol, phosphatidylethanolamine and lysophospholipids.',NULL,NULL,NULL,NULL,NULL),(2945,'UniProt Function',NULL,3704,NULL,'Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network.',NULL,NULL,NULL,NULL,NULL),(2946,'UniProt Function',NULL,3705,NULL,'Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofiber integrity.',NULL,NULL,NULL,NULL,NULL),(2947,'UniProt Function',NULL,3706,NULL,'The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. In vitro, hydrolyzes PtdIns(4,5)P2 in a Ca(2+)-dependent manner. Triggers intracellular Ca(2+) oscillations in oocytes solely during M phase and is involved in inducing oocyte activation and initiating embryonic development up to the blastocyst stage. Is therefore a strong candidate for the egg-activating soluble sperm factor that is transferred from the sperm into the egg cytoplasm following gamete membrane fusion. May exert an inhibitory effect on phospholipase-C-coupled processes that depend on calcium ions and protein kinase C, including CFTR trafficking and function.',NULL,NULL,NULL,NULL,NULL),(2948,'UniProt Function',NULL,3707,NULL,'Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity).',NULL,NULL,NULL,NULL,NULL),(2949,'UniProt Function',NULL,3708,NULL,'May have a role in signal-induced cytoskeletal regulation and/or endocytosis.',NULL,NULL,NULL,NULL,NULL),(2950,'UniProt Function',NULL,3709,NULL,'Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). In addition it hydrolyzes lysophosphatidic acid (LPA), ceramide-1-phosphate (C-1-P) and sphingosine-1-phosphate (S-1-P). The relative catalytic efficiency is LPA = PA > C-1-P > S-1-P. May be involved in cell adhesion and in cell-cell interactions.',NULL,NULL,NULL,NULL,NULL),(2951,'UniProt Function',NULL,3710,NULL,'Displays magnesium-independent phosphatidate phosphatase activity in vitro. Catalyzes the conversion of phosphatidic acid to diacylglycerol.',NULL,NULL,NULL,NULL,NULL),(2952,'UniProt Function',NULL,3712,NULL,'May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system.',NULL,NULL,NULL,NULL,NULL),(2953,'UniProt Function',NULL,3712,NULL,'Isoform 1 has no prospholipid scramblase activity, due to the lack of a N-terminal proline-rich domain.',NULL,NULL,NULL,NULL,NULL),(2954,'UniProt Function',NULL,3713,NULL,'Coreceptor for SEMA3A and SEMA6A. Necessary for signaling by SEMA6A and class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity).',NULL,NULL,NULL,NULL,NULL),(2955,'UniProt Function',NULL,3715,NULL,'Transcription factor that binds preferentially to a variant of the octamer motif (5\'-ATGATAAT-3\').',NULL,NULL,NULL,NULL,NULL),(2956,'UniProt Function',NULL,3716,NULL,'Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(2957,'UniProt Function',NULL,3717,NULL,'Involved in nonsense-mediated mRNA decay (NMD) by acting as a bridge between the mRNA decapping complex and the NMD machinery (PubMed:19150429). May act by targeting the NMD machinery to the P-body and recruiting the decapping machinery to aberrant mRNAs (PubMed:19150429). Required for UPF1/RENT1 localization to the P-body (PubMed:19150429). Plays a role in glucocorticoid receptor-mediated mRNA degradation by interacting with the glucocorticoid receptor NR3C1 in a ligand-dependent manner when it is bound to the 5\' UTR of target mRNAs and recruiting the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514). Also acts as a nuclear receptor coactivator (PubMed:11574675). May play a role in controlling the energy balance between energy storage and energy expenditure (By similarity).',NULL,NULL,NULL,NULL,NULL),(2958,'UniProt Function',NULL,3718,NULL,'Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.',NULL,NULL,NULL,NULL,NULL),(2959,'UniProt Function',NULL,3719,NULL,'Converts proline to delta-1-pyrroline-5-carboxylate.',NULL,NULL,NULL,NULL,NULL),(2960,'UniProt Function',NULL,3720,NULL,'Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids (PubMed:25618265). Exerts a protective effect on the endothelial cell barrier function (PubMed:25651845).',NULL,NULL,NULL,NULL,NULL),(2961,'UniProt Function',NULL,3721,NULL,'Binds to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidic acid (PA). Does not bind to actin (PubMed:19419568), contrary to other family members.',NULL,NULL,NULL,NULL,NULL),(2962,'UniProt Function',NULL,3722,NULL,'Probable ATP-binding RNA helicase involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(2963,'UniProt Function',NULL,3724,NULL,'PRP\'s act as highly potent inhibitors of crystal growth of calcium phosphates. They provide a protective and reparative environment for dental enamel which is important for the integrity of the teeth.',NULL,NULL,NULL,NULL,NULL),(2964,'UniProt Function',NULL,3725,NULL,'Has a role in pre-mRNA splicing. Phosphorylates SF2/ASF.',NULL,NULL,NULL,NULL,NULL),(2965,'UniProt Function',NULL,3726,NULL,'Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.',NULL,NULL,NULL,NULL,NULL),(2966,'UniProt Function',NULL,3729,NULL,'Plays a critical role in cell cycle progression.',NULL,NULL,NULL,NULL,NULL),(2967,'UniProt Function',NULL,3730,NULL,'Negatively regulates TSP1 expression at the level of transcription. This down-regulation was shown to reduce taxane-induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(2968,'UniProt Function',NULL,3731,NULL,'Functions in tethering peripheral heterochromatin to the nuclear lamina during interphase, possibly through the interaction with heterochromatin protein CBX5/HP1 alpha (PubMed:24209742). Might play a role in reattaching heterochromatin to the nuclear lamina at mitotic exit (PubMed:24209742). Promotes myoblast differentiation during skeletal myogenesis, possibly by stimulating transcription factor MyoD activity via binding to CBX5/HP1 alpha (PubMed:25906157). Involved in the positive regulation of the PI3K-Akt-mTOR signaling pathway and in promoting cell proliferation, possibly via binding to GRB2 (PubMed:27041574).',NULL,NULL,NULL,NULL,NULL),(2969,'UniProt Function',NULL,3732,NULL,'Associates with the mTORC2 complex that regulates cellular processes including survival and organization of the cytoskeleton (PubMed:17461779). Regulates the activity of the mTORC2 complex in a substrate-specific manner preventing for instance the specific phosphorylation of PKCs and thereby controlling cell migration (PubMed:22609986). Plays a role in the stimulation of ZFP36-mediated mRNA decay of several ZFP36-associated mRNAs, such as TNF-alpha and GM-CSF, in response to stress (PubMed:21964062). Required for ZFP36 localization to cytoplasmic stress granule (SG) and P-body (PB) in response to stress (PubMed:21964062).',NULL,NULL,NULL,NULL,NULL),(2970,'UniProt Function',NULL,3733,NULL,'Acts as a synapse-to-nucleus messenger to promote NMDA receptor-mediated excitotoxicity in neurons in a JUN-dependent manner (By similarity). Inhibits ubiquitination-mediated degradation and promotes phosphorylation and transcriptional activity of transcription factor JUN (PubMed:27458189). Might play a redundant role in the regulation of T cell receptor signaling (PubMed:21460222). Might promote apoptosis in T cells (PubMed:21460222).',NULL,NULL,NULL,NULL,NULL),(2971,'UniProt Function',NULL,3734,NULL,'Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity).',NULL,NULL,NULL,NULL,NULL),(2972,'UniProt Function',NULL,3735,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC6 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides.',NULL,NULL,NULL,NULL,NULL),(2973,'UniProt Function',NULL,3742,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC1 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides.',NULL,NULL,NULL,NULL,NULL),(2974,'UniProt Function',NULL,3744,NULL,'In vitro can degrade the fibrinogen alpha chain of as well as pro-urokinase-type plasminogen activator.',NULL,NULL,NULL,NULL,NULL),(2975,'UniProt Function',NULL,3746,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Within the 20S core complex, PSMB7 displays a trypsin-like activity.',NULL,NULL,NULL,NULL,NULL),(2976,'UniProt Function',NULL,3747,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.',NULL,NULL,NULL,NULL,NULL),(2977,'UniProt Function',NULL,3748,NULL,'Non-receptor tyrosine-protein kinase implicated in the regulation of a variety of signaling pathways that control the differentiation and maintenance of normal epithelia, as well as tumor growth. Function seems to be context dependent and differ depending on cell type, as well as its intracellular localization. A number of potential nuclear and cytoplasmic substrates have been identified. These include the RNA-binding proteins: KHDRBS1/SAM68, KHDRBS2/SLM1, KHDRBS3/SLM2 and SFPQ/PSF; transcription factors: STAT3 and STAT5A/B and a variety of signaling molecules: ARHGAP35/p190RhoGAP, PXN/paxillin, BTK/ATK, STAP2/BKS. Associates also with a variety of proteins that are likely upstream of PTK6 in various signaling pathways, or for which PTK6 may play an adapter-like role. These proteins include ADAM15, EGFR, ERBB2, ERBB3 and IRS4. In normal or non-tumorigenic tissues, PTK6 promotes cellular differentiation and apoptosis. In tumors PTK6 contributes to cancer progression by sensitizing cells to mitogenic signals and enhancing proliferation, anchorage-independent survival and migration/invasion. Association with EGFR, ERBB2, ERBB3 may contribute to mammary tumor development and growth through enhancement of EGF-induced signaling via BTK/AKT and PI3 kinase. Contributes to migration and proliferation by contributing to EGF-mediated phosphorylation of ARHGAP35/p190RhoGAP, which promotes association with RASA1/p120RasGAP, inactivating RhoA while activating RAS. EGF stimulation resulted in phosphorylation of PNX/Paxillin by PTK6 and activation of RAC1 via CRK/CrKII, thereby promoting migration and invasion. PTK6 activates STAT3 and STAT5B to promote proliferation. Nuclear PTK6 may be important for regulating growth in normal epithelia, while cytoplasmic PTK6 might activate oncogenic signaling pathways.',NULL,NULL,NULL,NULL,NULL),(2978,'UniProt Function',NULL,3748,NULL,'Isoform 2 inhibits PTK6 phosphorylation and PTK6 association with other tyrosine-phosphorylated proteins.',NULL,NULL,NULL,NULL,NULL),(2979,'UniProt Function',NULL,3749,NULL,'May act at junctions between the membrane and the cytoskeleton. Possesses tyrosine phosphatase activity.',NULL,NULL,NULL,NULL,NULL),(2980,'UniProt Function',NULL,3750,NULL,'May activate transcription. Required for nuclear translocation of FLOT1. Promotes cell proliferation.',NULL,NULL,NULL,NULL,NULL),(2981,'UniProt Function',NULL,3751,NULL,'Protein-tyrosine phosphatase that could participate in the transfer of hydrophobic ligands or in functions of the Golgi apparatus.',NULL,NULL,NULL,NULL,NULL),(2982,'UniProt Function',NULL,3752,NULL,'Plays an important role in blood vessel remodeling and angiogenesis. Not necessary for the initial formation of blood vessels, but is essential for their maintenance and remodeling. Can induce dephosphorylation of TEK/TIE2, CDH5/VE-cadherin and KDR/VEGFR-2. Regulates angiopoietin-TIE2 signaling in endothelial cells. Acts as a negative regulator of TIE2, and controls TIE2 driven endothelial cell proliferation, which in turn affects blood vessel remodeling during embryonic development and determines blood vessel size during perinatal growth. Essential for the maintenance of endothelial cell contact integrity and for the adhesive function of VE-cadherin in endothelial cells and this requires the presence of plakoglobin (By similarity).',NULL,NULL,NULL,NULL,NULL),(2983,'UniProt Function',NULL,3753,NULL,'Can bidirectionally induce pre- and post-synaptic differentiation of neurons by mediating interaction with IL1RAP and IL1RAPL1 trans-synaptically. Involved in pre-synaptic differentiation through interaction with SLITRK2.',NULL,NULL,NULL,NULL,NULL),(2984,'UniProt Function',NULL,3754,NULL,'Possesses tyrosine phosphatase activity.',NULL,NULL,NULL,NULL,NULL),(2985,'UniProt Function',NULL,3755,NULL,'Plays a role in vesicle-mediated secretory processes (PubMed:24843546). Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets (By similarity). Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation (PubMed:24843546). Plays a role in insulin secretion in response to glucose stimuli (PubMed:24843546). Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain (By similarity). In females, but not in males, required for normal accumulation and secretion of pituitary hormones, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH) (By similarity). Required to maintain normal levels of renin expression and renin release (By similarity). Seems to lack intrinsic enzyme activity (By similarity). May regulate catalytic active protein-tyrosine phosphatases such as PTPRA through dimerization (By similarity).',NULL,NULL,NULL,NULL,NULL),(2986,'UniProt Function',NULL,3755,NULL,'ICA512-transmembrane fragment: ICA512-TMF regulates dynamics and exocytosis of insulin secretory granules (SGs); binding of ICA512-TMF to SNTB2/beta-2-syntrophin is proposed to restrain SGs mobility and exocytosis by tethering them to the actin cytoskeleton depending on UTRN; the function is inhibited by cytoplasmic ICA512-CFF dimerizing with ICA512-TMF and displacing SNTB2.',NULL,NULL,NULL,NULL,NULL),(2987,'UniProt Function',NULL,3755,NULL,'ICA512-cleaved cytosolic fragment: ICA512-CCF translocated to the nucleus promotes expression of insulin and other granule-related genes; the function implicates binding to and regulating activity of STAT5B probably by preventing its dephosphorylation and potentially by inducing its sumoylation by recruiting PIAS4 (PubMed:15596545, PubMed:16622421, PubMed:18178618). Enhances pancreatic beta-cell proliferation by converging with signaling by STAT5B and STAT3 (PubMed:15596545, PubMed:16622421, PubMed:18178618). ICA512-CCF located in the cytoplasm regulates dynamics and exocytosis of insulin secretory granules (SGs) by dimerizing with ICA512-TMF and displacing SNTB2 thus enhancing SGs mobility and exocytosis (PubMed:18824546, PubMed:20886068).',NULL,NULL,NULL,NULL,NULL),(2988,'UniProt Function',NULL,3756,NULL,'May facilitate PTTG1 nuclear translocation.',NULL,NULL,NULL,NULL,NULL),(2989,'UniProt Function',NULL,3757,NULL,'Phosphatidylinositol phosphatase required for auditory function. May act by regulating the level of phosphatidylinositol 4,5-bisphosphate (PIP2) level in the basal region of hair bundles. Can dephosphorylate a broad range of phosphatidylinositol phosphates, including phosphatidylinositol 3,4,5-trisphosphate and most phosphatidylinositol monophosphates and diphosphates. Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring. Has low tyrosine-protein phosphatase activity; however, the relevance of such activity in vivo is unclear. Plays an important role in adipogenesis of mesenchymal stem cells (MSCs). Regulates the phosphorylation state of AKT1 by suppressing the phosphatidylinositol 3,4,5-trisphosphate (PIP3) level in MSCs and preadipocyte cells.',NULL,NULL,NULL,NULL,NULL),(2990,'UniProt Function',NULL,3758,NULL,'Cell surface receptor that binds to glycosaminoglycans, including chondroitin sulfate proteoglycans and heparan sulfate proteoglycan (PubMed:21454754). Binding to chondroitin sulfate and heparan sulfate proteoglycans has opposite effects on PTPRS oligomerization and regulation of neurite outgrowth. Contributes to the inhibition of neurite and axonal outgrowth by chondroitin sulfate proteoglycans, also after nerve transection. Plays a role in stimulating neurite outgrowth in response to the heparan sulfate proteoglycan GPC2. Required for normal brain development, especially for normal development of the pituitary gland and the olfactory bulb. Functions as tyrosine phosphatase (PubMed:8524829). Mediates dephosphorylation of NTRK1, NTRK2 and NTRK3 (By similarity). Plays a role in down-regulation of signaling cascades that lead to the activation of Akt and MAP kinases (By similarity). Down-regulates TLR9-mediated activation of NF-kappa-B, as well as production of TNF, interferon alpha and interferon beta (PubMed:26231120).',NULL,NULL,NULL,NULL,NULL),(2991,'UniProt Function',NULL,3760,NULL,'Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity.',NULL,NULL,NULL,NULL,NULL),(2992,'UniProt Function',NULL,3761,NULL,'Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages.',NULL,NULL,NULL,NULL,NULL),(2993,'UniProt Function',NULL,3763,NULL,'Transcription factor that binds to the octamer motif (5\'-ATTTGCAT-3\'). Forms a trimeric complex with SOX2 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency.',NULL,NULL,NULL,NULL,NULL),(2994,'UniProt Function',NULL,3765,NULL,'PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). May be involved in pre-mRNA splicing (PubMed:11991638).',NULL,NULL,NULL,NULL,NULL),(2995,'UniProt Function',NULL,3766,NULL,'Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:27903914). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:27903914). TP53RK has ATPase activity in the context of the EKC/KEOPS complex and likely plays a supporting role to the catalytic subunit OSGEP (By similarity). Atypical protein kinase that phosphorylates \'Ser-15\' of p53/TP53 protein and may therefore participate in its activation (PubMed:11546806).',NULL,NULL,NULL,NULL,NULL),(2996,'UniProt Function',NULL,3767,NULL,'Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5\' and the 3\' splice site.',NULL,NULL,NULL,NULL,NULL),(2997,'UniProt Function',NULL,3772,NULL,'May have a role in proliferation and/or differentiation.',NULL,NULL,NULL,NULL,NULL),(2998,'UniProt Function',NULL,3773,NULL,'Serine protease that has amidolytic activity, cleaving its substrates before Arg residues.',NULL,NULL,NULL,NULL,NULL),(2999,'UniProt Function',NULL,3774,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC3 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides.',NULL,NULL,NULL,NULL,NULL),(3000,'UniProt Function',NULL,3777,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC4 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides.',NULL,NULL,NULL,NULL,NULL),(3001,'UniProt Function',NULL,3779,NULL,'Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G).',NULL,NULL,NULL,NULL,NULL),(3002,'UniProt Function',NULL,3780,NULL,'Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1. Plays a role in the regulation of neurogenesis (PubMed:28334956). Involved in the regulation of microtubule polymerization (PubMed:28334956).',NULL,NULL,NULL,NULL,NULL),(3003,'UniProt Function',NULL,3781,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).',NULL,NULL,NULL,NULL,NULL),(3004,'UniProt Function',NULL,3782,NULL,'Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel. As part of the 5S RNP/5S ribonucleoprotein particle it is an essential component of the LSU, required for its formation and the maturation of rRNAs (PubMed:19061985, PubMed:12962325, PubMed:24120868). It also couples ribosome biogenesis to p53/TP53 activation. As part of the 5S RNP it accumulates in the nucleoplasm and inhibits MDM2, when ribosome biogenesis is perturbed, mediating the stabilization and the activation of TP53 (PubMed:24120868). Promotes nucleolar location of PML (By similarity).',NULL,NULL,NULL,NULL,NULL),(3005,'UniProt Function',NULL,3783,NULL,'Binds directly to 26S ribosomal RNA.',NULL,NULL,NULL,NULL,NULL),(3006,'UniProt Function',NULL,3784,NULL,'The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides.',NULL,NULL,NULL,NULL,NULL),(3007,'UniProt Function',NULL,3785,NULL,'The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Incorporated instead of PSMB5 or PSMB8, this unit reduces the chymotrypsin-like activity of the proteasome (By similarity). Plays a pivotal role in development of CD8-positive T cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(3008,'UniProt Function',NULL,3786,NULL,'Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(3009,'UniProt Function',NULL,3787,NULL,'Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(3010,'UniProt Function',NULL,3788,NULL,'Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain.',NULL,NULL,NULL,NULL,NULL),(3011,'UniProt Function',NULL,3789,NULL,'DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:24449906). Due to low processivity on both damaged and normal DNA, cooperates with the heterotetrameric (REV3L, REV7, POLD2 and POLD3) POLZ complex for complete bypass of DNA lesions. Inserts one or 2 nucleotide(s) opposite the lesion, the primer is further extended by the tetrameric POLZ complex. In the case of 1,2-intrastrand d(GpG)-cisplatin cross-link, inserts dCTP opposite the 3\' guanine (PubMed:24449906). Particularly important for the repair of UV-induced pyrimidine dimers (PubMed:10385124, PubMed:11743006). Although inserts the correct base, may cause base transitions and transversions depending upon the context. May play a role in hypermutation at immunoglobulin genes (PubMed:11376341, PubMed:14734526). Forms a Schiff base with 5\'-deoxyribose phosphate at abasic sites, but does not have any lyase activity, preventing the release of the 5\'-deoxyribose phosphate (5\'-dRP) residue. This covalent trapping of the enzyme by the 5\'-dRP residue inhibits its DNA synthetic activity during base excision repair, thereby avoiding high incidence of mutagenesis (PubMed:14630940). Targets POLI to replication foci (PubMed:12606586).',NULL,NULL,NULL,NULL,NULL),(3012,'UniProt Function',NULL,3790,NULL,'Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.',NULL,NULL,NULL,NULL,NULL),(3013,'UniProt Function',NULL,3791,NULL,'Regulates the mitochondrial permeability transition pore and is essential for cellular survival and development.',NULL,NULL,NULL,NULL,NULL),(3014,'UniProt Function',NULL,3792,NULL,'PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity).',NULL,NULL,NULL,NULL,NULL),(3015,'UniProt Function',NULL,3797,NULL,'Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons (PubMed:8816748).',NULL,NULL,NULL,NULL,NULL),(3016,'UniProt Function',NULL,3799,NULL,'Aminopeptidase with broad substrate specificity to several peptides.',NULL,NULL,NULL,NULL,NULL),(3017,'UniProt Function',NULL,3800,NULL,'Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the antigen-processing pathway for MHC class I molecules. Involved in the N-terminal trimming of cytotoxic T-cell epitope precursors. Digests the poly-Q peptides found in many cellular proteins. Digests tau from normal brain more efficiently than tau from Alzheimer disease brain.',NULL,NULL,NULL,NULL,NULL),(3018,'UniProt Function',NULL,3801,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).',NULL,NULL,NULL,NULL,NULL),(3019,'UniProt Function',NULL,3803,NULL,'The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Acts as a major component of interferon gamma-induced sensitivity. Plays a key role in apoptosis via the degradation of the apoptotic inhibitor MCL1. May be involved in the inflammatory response pathway. In cancer cells, substitution of isoform 1 (E2) by isoform 2 (E1) results in immunoproteasome deficiency. Required for the differentiation of preadipocytes into adipocytes.',NULL,NULL,NULL,NULL,NULL),(3020,'UniProt Function',NULL,3806,NULL,'Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(3021,'UniProt Function',NULL,3812,NULL,'Serine protease that degrades elastin, fibronectin, laminin, vitronectin, and collagen types I, III, and IV (in vitro) (PubMed:3198760, PubMed:2033050, PubMed:28240246). By cleaving and activating receptor F2RL1/PAR-2, enhances endothelial cell barrier function and thus vascular integrity during neutrophil transendothelial migration (PubMed:23202369). May play a role in neutrophil transendothelial migration, probably when associated with CD177 (PubMed:22266279).',NULL,NULL,NULL,NULL,NULL),(3022,'UniProt Function',NULL,3813,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).',NULL,NULL,NULL,NULL,NULL),(3023,'UniProt Function',NULL,3814,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Binds to the C-terminus of CDKN1A and thereby mediates its degradation. Negatively regulates the membrane trafficking of the cell-surface thromboxane A2 receptor (TBXA2R) isoform 2.',NULL,NULL,NULL,NULL,NULL),(3024,'UniProt Function',NULL,3815,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).',NULL,NULL,NULL,NULL,NULL),(3025,'UniProt Function',NULL,3816,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).',NULL,NULL,NULL,NULL,NULL),(3026,'UniProt Function',NULL,3817,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.',NULL,NULL,NULL,NULL,NULL),(3027,'UniProt Function',NULL,3817,NULL,'Binds to the intracellular domain of tumor necrosis factor type 1 receptor. The binding domain of TRAP1 and TRAP2 resides outside the death domain of TNFR1.',NULL,NULL,NULL,NULL,NULL),(3028,'UniProt Function',NULL,3818,NULL,'Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). In the initial step of the base subcomplex assembly is part of an intermediate PSMD5:PSMC2:PSMC1:PSMD2 module which probably assembles with a PSMD10:PSMC4:PSMC5:PAAF1 module followed by dissociation of PSMD5.',NULL,NULL,NULL,NULL,NULL),(3029,'UniProt Function',NULL,3821,NULL,'Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway. Catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to yield formylglycinamidine ribonucleotide (FGAM) and glutamate (By similarity).',NULL,NULL,NULL,NULL,NULL),(3030,'UniProt Function',NULL,3822,NULL,'Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. May positively regulate cell proliferation.',NULL,NULL,NULL,NULL,NULL),(3031,'UniProt Function',NULL,3823,NULL,'Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.',NULL,NULL,NULL,NULL,NULL),(3032,'UniProt Function',NULL,3824,NULL,'Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.',NULL,NULL,NULL,NULL,NULL),(3033,'UniProt Function',NULL,3825,NULL,'Serine/threonine-protein phosphatase that dephosphorylates a myriad of proteins involved in different signaling pathways including the kinases CSNK1E, ASK1/MAP3K5, PRKDC and RAF1, the nuclear receptors NR3C1, PPARG, ESR1 and ESR2, SMAD proteins and TAU/MAPT. Implicated in wide ranging cellular processes, including apoptosis, differentiation, DNA damage response, cell survival, regulation of ion channels or circadian rhythms, in response to steroid and thyroid hormones, calcium, fatty acids, TGF-beta as well as oxidative and genotoxic stresses. Participates in the control of DNA damage response mechanisms such as checkpoint activation and DNA damage repair through, for instance, the regulation ATM/ATR-signaling and dephosphorylation of PRKDC and TP53BP1. Inhibits ASK1/MAP3K5-mediated apoptosis induced by oxidative stress. Plays a positive role in adipogenesis, mainly through the dephosphorylation and activation of PPARG transactivation function. Also dephosphorylates and inhibits the anti-adipogenic effect of NR3C1. Regulates the circadian rhythms, through the dephosphorylation and activation of CSNK1E. May modulate TGF-beta signaling pathway by the regulation of SMAD3 phosphorylation and protein expression levels. Dephosphorylates and may play a role in the regulation of TAU/MAPT. Through their dephosphorylation, may play a role in the regulation of ions channels such as KCNH2.',NULL,NULL,NULL,NULL,NULL),(3034,'UniProt Function',NULL,3826,NULL,'Serine/threonine protein kinase regulated by and mediating cAMP signaling in cells. Acts through phosphorylation of downstream targets that may include CREB, SMAD6 and PKD1 and has multiple functions in cellular differentiation and epithelial morphogenesis. Regulates myeloid cell differentiation through SMAD6 phosphorylation. Involved in nephrogenesis by stimulating renal epithelial cell migration and tubulogenesis. Also involved in angiogenesis through stimulation of endothelial cell proliferation, migration and vascular-like structure formation.',NULL,NULL,NULL,NULL,NULL),(3035,'UniProt Function',NULL,3827,NULL,'Transcription factor involved in developmental processes such as cell fate determination, gene transcriptional regulation and progenitor cell regulation in a number of organs. Plays a critical role in embryonic development and functions as a key regulatory protein in neurogenesis and the development of the heart, eye lens, liver, pancreas and the lymphatic system. Involved in the regulation of the circadian rhythm. Represses: transcription of the retinoid-related orphan receptor RORG, transcriptional activator activity of RORA and RORG and the expression of RORA/G-target genes including core clock components: ARNTL/BMAL1, NPAS2 and CRY1 and metabolic genes: AVPR1A and ELOVL3.',NULL,NULL,NULL,NULL,NULL),(3036,'UniProt Function',NULL,3828,NULL,'Transcription regulator. Does not seem to be essential for embryonic development and postnatal survival (By similarity).',NULL,NULL,NULL,NULL,NULL),(3037,'UniProt Function',NULL,3829,NULL,'Ubiquitin-protein ligase which is a core component of several complexes mainly involved pre-mRNA splicing and DNA repair. Core component of the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome and participates in its assembly, its remodeling and is required for its activity. During assembly of the spliceosome, mediates \'Lys-63\'-linked polyubiquitination of the U4 spliceosomal protein PRPF3. Ubiquitination of PRPF3 allows its recognition by the U5 component PRPF8 and stabilizes the U4/U5/U6 tri-snRNP spliceosomal complex (PubMed:20595234). Recruited to RNA polymerase II C-terminal domain (CTD) and the pre-mRNA, it may also couple the transcriptional and spliceosomal machineries (PubMed:21536736). The XAB2 complex, which contains PRPF19, is also involved in pre-mRNA splicing, transcription and transcription-coupled repair (PubMed:17981804). Beside its role in pre-mRNA splicing PRPF19, as part of the PRP19-CDC5L complex, plays a role in the DNA damage response/DDR. It is recruited to the sites of DNA damage by the RPA complex where PRPF19 directly ubiquitinates RPA1 and RPA2. \'Lys-63\'-linked polyubiquitination of the RPA complex allows the recruitment of the ATR-ATRIP complex and the activation of ATR, a master regulator of the DNA damage response (PubMed:24332808). May also play a role in DNA double-strand break (DSB) repair by recruiting the repair factor SETMAR to altered DNA (PubMed:18263876). As part of the PSO4 complex may also be involved in the DNA interstrand cross-links/ICLs repair process (PubMed:16223718). In addition, may also mediate \'Lys-48\'-linked polyubiquitination of substrates and play a role in proteasomal degradation (PubMed:11435423). May play a role in the biogenesis of lipid droplets (By similarity). May play a role in neural differentiation possibly through its function as part of the spliceosome (By similarity).',NULL,NULL,NULL,NULL,NULL),(3038,'UniProt Function',NULL,3830,NULL,'Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:28781166, PubMed:21549338). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation.',NULL,NULL,NULL,NULL,NULL),(3039,'UniProt Function',NULL,3834,NULL,'May play an important role in regulating differentiation, survival and aggressiveness of the tumor cells.',NULL,NULL,NULL,NULL,NULL),(3040,'UniProt Function',NULL,3835,NULL,'In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions.',NULL,NULL,NULL,NULL,NULL),(3041,'UniProt Function',NULL,3837,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).',NULL,NULL,NULL,NULL,NULL),(3042,'UniProt Function',NULL,3838,NULL,'Associated with ribosomes but is not required for canonical ribosome function and has extra-ribosomal functions. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma activation and subsequent phosphorylation dissociates from the ribosome and assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3\'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation. In the GAIT complex interacts with m7G cap-bound eIF4G at or near the eIF3-binding site and blocks the recruitment of the 43S ribosomal complex. Involved in methylation of rRNA.',NULL,NULL,NULL,NULL,NULL),(3043,'UniProt Function',NULL,3839,NULL,'Transcription factor that binds to the octamer motif (5\'-ATTTGCAT-3\') and activates the promoters of the genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins. Modulates transcription transactivation by NR3C1, AR and PGR (By similarity). In case of human herpes simplex virus (HSV) infection, POU2F1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and HCFC1 thereby enabling the transcription of the viral immediate early genes.',NULL,NULL,NULL,NULL,NULL),(3044,'UniProt Function',NULL,3840,NULL,'Negatively regulates cell proliferation and cell migration.',NULL,NULL,NULL,NULL,NULL),(3045,'UniProt Function',NULL,3841,NULL,'Transcription factor that binds to the octamer motif (5\'-ATTTGCAT-3\'). Regulated the expression of a number of genes such as SPRR2A or placental lactogen.',NULL,NULL,NULL,NULL,NULL),(3046,'UniProt Function',NULL,3842,NULL,'Transcription factor that binds to the octamer motif (5\'-ATTTGCAT-3\'). Thought to be involved in early embryogenesis and neurogenesis.',NULL,NULL,NULL,NULL,NULL),(3047,'UniProt Function',NULL,3843,NULL,'Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(3048,'UniProt Function',NULL,3844,NULL,'Inhibitor of protein-phosphatase 1. This protein may be important in hormonal control of glycogen metabolism. Hormones that elevate intracellular cAMP increase I-1 activity in many tissues. I-1 activation may impose cAMP control over proteins that are not directly phosphorylated by PKA. Following a rise in intracellular calcium, I-1 is inactivated by calcineurin (or PP2B). Does not inhibit type-2 phosphatases.',NULL,NULL,NULL,NULL,NULL),(3049,'UniProt Function',NULL,3845,NULL,'Involved in regulation of the actin cytoskeleton. May regulate WAS actin-bundling activity. Bridges the interaction between ABL1 and PTPN18 leading to ABL1 dephosphorylation. May play a role as a scaffold protein between PTPN12 and WAS and allow PTPN12 to dephosphorylate WAS. Has the potential to physically couple CD2 and CD2AP to WAS. Acts downstream of CD2 and CD2AP to recruit WAS to the T-cell:APC contact site so as to promote the actin polymerization required for synapse induction during T-cell activation (By similarity). Down-regulates CD2-stimulated adhesion through the coupling of PTPN12 to CD2. Also has a role in innate immunity and the inflammatory response. Recruited to inflammasomes by MEFV. Induces formation of pyroptosomes, large supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis. Binding to MEFV allows MEFV to bind to PYCARD and facilitates pyroptosome formation. Regulates endocytosis and cell migration in neutrophils.',NULL,NULL,NULL,NULL,NULL),(3050,'UniProt Function',NULL,3849,NULL,'Binds DNA and functions as a transcriptional regulator. Functions in the differentiation of brown adipose tissue (BAT) which is specialized in dissipating chemical energy in the form of heat in response to cold or excess feeding while white adipose tissue (WAT) is specialized in the storage of excess energy and the control of systemic metabolism. Together with CEBPB, regulates the differentiation of myoblastic precursors into brown adipose cells. Functions also as a repressor of TGF-beta signaling. Isoform 4 may regulate granulocytes differentiation.',NULL,NULL,NULL,NULL,NULL),(3051,'UniProt Function',NULL,3850,NULL,'Regulates intracellular concentrations of taurine and glutamate. Negatively modulates SLC1A1/EAAC1 glutamate transport activity by decreasing its affinity for glutamate in a PKC activity-dependent manner. May be involved in membrane traffic.',NULL,NULL,NULL,NULL,NULL),(3052,'UniProt Function',NULL,3853,NULL,'Metalloendopeptidase of the mitochondrial matrix that functions in peptide cleavage and degradation rather than in protein processing (PubMed:10360838, PubMed:16849325, PubMed:19196155, PubMed:24931469). Has an ATP-independent activity (PubMed:16849325). Specifically cleaves peptides in the range of 5 to 65 residues (PubMed:19196155). Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference (PubMed:10360838, PubMed:19196155, PubMed:24931469). Degrades the transit peptides of mitochondrial proteins after their cleavage (PubMed:19196155). Also degrades other unstructured peptides (PubMed:19196155). It is also able to degrade amyloid-beta protein 40, one of the peptides produced by APP processing, when it accumulates in mitochondrion (PubMed:16849325, PubMed:24931469). It is a highly efficient protease, at least toward amyloid-beta protein 40 (PubMed:24931469). Cleaves that peptide at a specific position and is probably not processive, releasing digested peptides intermediates that can be further cleaved subsequently (PubMed:24931469).',NULL,NULL,NULL,NULL,NULL),(3053,'UniProt Function',NULL,3855,NULL,'Involved in pre-mRNA splicing as a component of the spliceosome.',NULL,NULL,NULL,NULL,NULL),(3054,'UniProt Function',NULL,3856,NULL,'Probable histone methyltransferase.',NULL,NULL,NULL,NULL,NULL),(3055,'UniProt Function',NULL,3857,NULL,'Involved in the positive regulation of histone H3-K9 dimethylation.',NULL,NULL,NULL,NULL,NULL),(3056,'UniProt Function',NULL,3858,NULL,'Recruits the serine/threonine-protein phosphatase PP1 to dephosphorylate the translation initiation factor eIF-2A/EIF2S1, thereby reversing the shut-off of protein synthesis initiated by stress-inducible kinases and facilitating recovery of cells from stress. Down-regulates the TGF-beta signaling pathway by promoting dephosphorylation of TGFB1 by PP1. May promote apoptosis by inducing TP53 phosphorylation on \'Ser-15\'.',NULL,NULL,NULL,NULL,NULL),(3057,'UniProt Function',NULL,3859,NULL,'May anchor basement membranes to the underlying connective tissue.',NULL,NULL,NULL,NULL,NULL),(3058,'UniProt Function',NULL,3862,NULL,'Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins, such as BCL2, SYT11, CCNE1, GPR37, RHOT1/MIRO1, MFN1, MFN2, STUB1, SNCAIP, SEPT5, TOMM20, USP30, ZNF746 and AIMP2 (PubMed:10973942, PubMed:10888878, PubMed:11431533, PubMed:12150907, PubMed:12628165, PubMed:16135753, PubMed:21376232, PubMed:23754282, PubMed:23620051, PubMed:24660806, PubMed:24751536). Mediates monoubiquitination as well as \'Lys-6\', \'Lys-11\', \'Lys-48\'-linked and \'Lys-63\'-linked polyubiquitination of substrates depending on the context (PubMed:19229105, PubMed:20889974, PubMed:25621951). Participates in the removal and/or detoxification of abnormally folded or damaged protein by mediating \'Lys-63\'-linked polyubiquitination of misfolded proteins such as PARK7: \'Lys-63\'-linked polyubiquitinated misfolded proteins are then recognized by HDAC6, leading to their recruitment to aggresomes, followed by degradation (PubMed:17846173, PubMed:19229105). Mediates \'Lys-63\'-linked polyubiquitination of a 22 kDa O-linked glycosylated isoform of SNCAIP, possibly playing a role in Lewy-body formation (PubMed:11590439, PubMed:11431533, PubMed:19229105, PubMed:11590439, PubMed:15728840). Mediates monoubiquitination of BCL2, thereby acting as a positive regulator of autophagy (PubMed:20889974). Promotes the autophagic degradation of dysfunctional depolarized mitochondria (mitophagy) by promoting the ubiquitination of mitochondrial proteins such as TOMM20, RHOT1/MIRO1 and USP30 (PubMed:19029340, PubMed:19966284, PubMed:23620051, PubMed:24896179, PubMed:25527291). Preferentially assembles \'Lys-6\'-, \'Lys-11\'- and \'Lys-63\'-linked polyubiquitin chains following mitochondrial damage, leading to mitophagy (PubMed:25621951). Mediates \'Lys-48\'-linked polyubiquitination of ZNF746, followed by degradation of ZNF746 by the proteasome; possibly playing a role in the regulation of neuron death (PubMed:21376232). Limits the production of reactive oxygen species (ROS). Regulates cyclin-E during neuronal apoptosis. In collaboration with CHPF isoform 2, may enhance cell viability and protect cells from oxidative stress (PubMed:22082830). Independently of its ubiquitin ligase activity, protects from apoptosis by the transcriptional repression of p53/TP53 (PubMed:19801972). May protect neurons against alpha synuclein toxicity, proteasomal dysfunction, GPR37 accumulation, and kainate-induced excitotoxicity (PubMed:11439185). May play a role in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent exocytosis. May represent a tumor suppressor gene.',NULL,NULL,NULL,NULL,NULL),(3059,'UniProt Function',NULL,3863,NULL,'Dephosphorylates a range of proteins, and thereby regulates cellular signaling cascades (PubMed:18559503). Dephosphorylates cellular tyrosine kinases, such as ERBB2 and PTK2B/PYK2, and thereby regulates signaling via ERBB2 and PTK2B/PYK2 (PubMed:17329398, PubMed:27134172). Selectively dephosphorylates ERBB2 phosphorylated at \'Tyr-1112\', \'Tyr-1196\', and/or \'Tyr-1248\' (PubMed:27134172).',NULL,NULL,NULL,NULL,NULL),(3060,'UniProt Function',NULL,3864,NULL,'Tyrosine phosphatase which regulates negatively FAS-induced apoptosis and NGFR-mediated pro-apoptotic signaling (PubMed:15611135). May regulate phosphoinositide 3-kinase (PI3K) signaling through dephosphorylation of PIK3R2 (PubMed:23604317).',NULL,NULL,NULL,NULL,NULL),(3061,'UniProt Function',NULL,3865,NULL,'Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby modulating epithelial-mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell density-dependent manner. May function as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(3062,'UniProt Function',NULL,3866,NULL,'Differentially dephosphorylate autophosphorylated tyrosine kinases which are known to be overexpressed in tumor tissues.',NULL,NULL,NULL,NULL,NULL),(3063,'UniProt Function',NULL,3867,NULL,'Tyrosine-protein phosphatase which acts as a regulator of endoplasmic reticulum unfolded protein response. Mediates dephosphorylation of EIF2AK3/PERK; inactivating the protein kinase activity of EIF2AK3/PERK. May play an important role in CKII- and p60c-src-induced signal transduction cascades. May regulate the EFNA5-EPHA3 signaling pathway which modulates cell reorganization and cell-cell repulsion. May also regulate the hepatocyte growth factor receptor signaling pathway through dephosphorylation of MET.',NULL,NULL,NULL,NULL,NULL),(3064,'UniProt Function',NULL,3868,NULL,'Tyrosine-protein phosphatase targeted to sites of actin polymerization in response of varied extracellular stimuli. Has tyrosine phosphatase activity towards various tyrosyl phosphorylated substrates.',NULL,NULL,NULL,NULL,NULL),(3065,'UniProt Function',NULL,3870,NULL,'Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also other ESCRT complexes. May act as a negative regulator of Ras-mediated mitogenic activity. Plays a role in ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(3066,'UniProt Function',NULL,3871,NULL,'Parathymosin may mediate immune function by blocking the effect of prothymosin alpha which confers resistance to certain opportunistic infections.',NULL,NULL,NULL,NULL,NULL),(3067,'UniProt Function',NULL,3872,NULL,'Secreted growth factor that induces neurite outgrowth and which is mitogenic for fibroblasts, epithelial, and endothelial cells (PubMed:1768439, PubMed:1733956). Binds anaplastic lymphoma kinase (ALK) which induces MAPK pathway activation, an important step in the anti-apoptotic signaling of PTN and regulation of cell proliferation (PubMed:11278720). Binds to cell-surface target proteins via their chondroitin sulfate groups (PubMed:26896299). Down-regulates PTPRZ1 activity (PubMed:16814777).',NULL,NULL,NULL,NULL,NULL),(3068,'UniProt Function',NULL,3873,NULL,'May regulate the activity of several effector molecules involved in synaptic plasticity and neuronal cell survival, including MAPKs, Src family kinases and NMDA receptors.',NULL,NULL,NULL,NULL,NULL),(3069,'UniProt Function',NULL,3874,NULL,'Modulates signaling by tyrosine phosphorylated cell surface receptors such as KIT and the EGF receptor/EGFR. The SH2 regions may interact with other cellular components to modulate its own phosphatase activity against interacting substrates. Together with MTUS1, induces UBE2V2 expression upon angiotensin II stimulation. Plays a key role in hematopoiesis.',NULL,NULL,NULL,NULL,NULL),(3070,'UniProt Function',NULL,3876,NULL,'Tyrosine phosphatase which dephosphorylates or contributes to the dephosphorylation of CTNND1, FLT3, PDGFRB, MET, RET (variant MEN2A), KDR, LYN, SRC, MAPK1, MAPK3, EGFR, TJP1, OCLN, PIK3R1 and PIK3R2. Plays a role in cell adhesion, migration, proliferation and differentiation. Involved in vascular development. Regulator of macrophage adhesion and spreading. Positively affects cell-matrix adhesion. Positive regulator of platelet activation and thrombosis. Negative regulator of cell proliferation. Negative regulator of PDGF-stimulated cell migration; through dephosphorylation of PDGFR. Positive regulator of endothelial cell survival, as well as of VEGF-induced SRC and AKT activation; through KDR dephosphorylation. Negative regulator of EGFR signaling pathway; through EGFR dephosphorylation. Enhances the barrier function of epithelial junctions during reassembly. Negatively regulates T-cell receptor (TCR) signaling. Upon T-cell TCR activation, it is up-regulated and excluded from the immunological synapses, while upon T-cell-antigen presenting cells (APC) disengagement, it is no longer excluded and can dephosphorylate PLCG1 and LAT to down-regulate prolongation of signaling.',NULL,NULL,NULL,NULL,NULL),(3071,'UniProt Function',NULL,3877,NULL,'Involved in cell-cell adhesion through homophilic interactions. May play a key role in signal transduction and growth control.',NULL,NULL,NULL,NULL,NULL),(3072,'UniProt Function',NULL,3878,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).',NULL,NULL,NULL,NULL,NULL),(3073,'UniProt Function',NULL,3879,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. The PSMD14 subunit is a metalloprotease that specifically cleaves \'Lys-63\'-linked polyubiquitin chains within the complex. Plays a role in response to double-strand breaks (DSBs): acts as a regulator of non-homologous end joining (NHEJ) by cleaving \'Lys-63\'-linked polyubiquitin, thereby promoting retention of JMJD2A/KDM4A on chromatin and restricting TP53BP1 accumulation. Also involved in homologous recombination repair by promoting RAD51 loading.',NULL,NULL,NULL,NULL,NULL),(3074,'UniProt Function',NULL,3880,NULL,'Acts as negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules (PubMed:16461343, PubMed:18056643). Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating \'Tyr-394\' residue (PubMed:21719704). Dephosphorylates ZAP70 at its activating \'Tyr-493\' residue (PubMed:16461343). Dephosphorylates the immune system activator SKAP2 (PubMed:21719704). Positively regulates toll-like receptor (TLR)-induced type 1 interferon production (PubMed:23871208). Promotes host antiviral responses mediated by type 1 interferon (By similarity). Regulates NOD2-induced pro-inflammatory cytokine secretion and autophagy (PubMed:23991106).',NULL,NULL,NULL,NULL,NULL),(3075,'UniProt Function',NULL,3881,NULL,'May act at junctions between the membrane and the cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(3076,'UniProt Function',NULL,3882,NULL,'May play roles in cilia formation and/or maintenance.',NULL,NULL,NULL,NULL,NULL),(3077,'UniProt Function',NULL,3883,NULL,'Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(3078,'UniProt Function',NULL,3883,NULL,'(Microbial infection) Acts as a receptor for human cytomegalovirus protein UL11 and mediates binding of UL11 to T-cells, leading to reduced induction of tyrosine phosphorylation of multiple signaling proteins upon T-cell receptor stimulation and impaired T-cell proliferation.',NULL,NULL,NULL,NULL,NULL),(3079,'UniProt Function',NULL,3884,NULL,'Lipid phosphatase which dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG) (By similarity). PGP is an essential intermediate in the biosynthetic pathway of cardiolipin, a mitochondrial-specific phospholipid regulating the membrane integrity and activities of the organelle (By similarity). Has also been shown to display phosphatase activity toward phosphoprotein substrates, specifically mediates dephosphorylation of mitochondrial proteins, thereby playing an essential role in ATP production (By similarity). Has probably a preference for proteins phosphorylated on Ser and/or Thr residues compared to proteins phosphorylated on Tyr residues (By similarity). Probably involved in regulation of insulin secretion in pancreatic beta cells (By similarity). May prevent intrinsic apoptosis, probably by regulating mitochondrial membrane integrity (PubMed:24709986).',NULL,NULL,NULL,NULL,NULL),(3080,'UniProt Function',NULL,3885,NULL,'Protein phosphatase that may contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of focal adhesion-associated substrates and thus negatively regulating integrin-promoted signaling processes. Induces apoptotic cell death by at least two distinct mechanisms: inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. Inhibits the basal activity of LCK and its activation in response to TCR stimulation and TCR-induced activation of MAP kinase and surface expression of CD69. Inhibits TCR-induced tyrosine phosphorylation of LAT and ZAP70. Inhibits both basal activity of DOK1 and its CD2-induced tyrosine phosphorylation. Induces dephosphorylation of BCAR1, focal adhesion kinase and SRC. Reduces migratory activity of activity of Jurkat cells. Reduces tyrosine phosphorylation of CEACAM20 and thereby contributes to suppress the intestinal immune response CEACAM20 (By similarity).',NULL,NULL,NULL,NULL,NULL),(3081,'UniProt Function',NULL,3887,NULL,'May be involved in both signal transduction and cellular adhesion in the CNS.',NULL,NULL,NULL,NULL,NULL),(3082,'UniProt Function',NULL,3888,NULL,'Plays a role in the regulation of innate resistance to pathogens, inflammatory reactions, possibly clearance of self-components and female fertility.',NULL,NULL,NULL,NULL,NULL),(3083,'UniProt Function',NULL,3889,NULL,'DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3\'-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3\'-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with TROVE2. Binds to poly(U) RNA.',NULL,NULL,NULL,NULL,NULL),(3084,'UniProt Function',NULL,3890,NULL,'Inhibits the poly(ADP-ribosyl)ation activity of PARP1 and the degradation of PARP1 by CASP3 following genotoxic stress (PubMed:21266351). Binds to double-stranded RNA or DNA without sequence specificity (PubMed:25512524). Involved in development of the eye and of primordial germ cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(3085,'UniProt Function',NULL,3894,NULL,'Involved in redox regulation of the cell (PubMed:26438880, PubMed:19951071). Acts as an antioxidant (PubMed:19951071, PubMed:26438880). Inhibits TNFSF11-induced NFKB1 and JUN activation and osteoclast differentiation (PubMed:19951071). May affect bone resorption and help to maintain bone mass (PubMed:19951071). Acts as a negative regulator of macrophage-mediated inflammation by inhibiting macrophage production of inflammatory cytokines, probably through suppression of the MAPK signaling pathway (PubMed:26438880).',NULL,NULL,NULL,NULL,NULL),(3086,'UniProt Function',NULL,3895,NULL,'May regulate positively ERK1/2 signaling and AKT1 activation leading to HIF1A up-regulation with an increased expression of glycolysis genes and enhanced glycolysis.',NULL,NULL,NULL,NULL,NULL),(3087,'UniProt Function',NULL,3896,NULL,'Binds beta-galactoside and lactose. Strong inducer of T-cell apoptosis.',NULL,NULL,NULL,NULL,NULL),(3088,'UniProt Function',NULL,3898,NULL,'Acts as a glycogen-targeting subunit for PP1. PP1 is involved in glycogen metabolism and contributes to the activation of glycogen synthase leading to an increase in glycogen synthesis.',NULL,NULL,NULL,NULL,NULL),(3089,'UniProt Function',NULL,3899,NULL,'Involved in the negative regulation of p53 expression (PubMed:23242139). Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates \'Ser-15\' of TP53 and \'Ser-345\' of CHEK1 which contributes to the functional inactivation of these proteins (PubMed:15870257, PubMed:16311512). Mediates MAPK14 dephosphorylation and inactivation (PubMed:21283629). Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity (By similarity).',NULL,NULL,NULL,NULL,NULL),(3090,'UniProt Function',NULL,3900,NULL,'Retina-specific kinase involved in the signal turnoff via phosphorylation of rhodopsin (RHO), the G protein- coupled receptor that initiates the phototransduction cascade. This rapid desensitization is essential for scotopic vision and permits rapid adaptation to changes in illumination.',NULL,NULL,NULL,NULL,NULL),(3091,'UniProt Function',NULL,3901,NULL,'Binds to actin and affects the structure of the cytoskeleton. Slightly reduces actin polymerization. Binds to poly-L-proline, phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 4-phosphate (PtdIns(4)P). May be involved in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(3092,'UniProt Function',NULL,3902,NULL,'Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR.',NULL,NULL,NULL,NULL,NULL),(3093,'UniProt Function',NULL,3903,NULL,'Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG.',NULL,NULL,NULL,NULL,NULL),(3094,'UniProt Function',NULL,3904,NULL,'Potently contracts gastrointestinal (GI) smooth muscle. Induces proliferation, migration and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. Has little or no effect on a variety of other endothelial and non-endothelial cell types. Induces proliferation and differentiation, but not migration, of enteric neural crest cells. Directly influences neuroblastoma progression by promoting the proliferation and migration of neuroblastoma cells. Positively regulates PTGS2 expression and prostaglandin synthesis. May play a role in placentation. May play a role in normal and pathological testis angiogenesis.',NULL,NULL,NULL,NULL,NULL),(3095,'UniProt Function',NULL,3905,NULL,'Opiorphin is an endogenous inhibitor of neprilysin and aminopeptidase N. Inhibits the breakdown of substance P, Mca-BK2 and Met-enkephalin by neprilysin in vitro with IC(50) values of 29 uM, 33 uM and 33 uM respectively. Inhibits the breakdown of Ala-pNA by aminopeptidase N in vitro with an IC(50) of 65 uM. Has a potent analgesic effect when administered to rats by intravenous injection.',NULL,NULL,NULL,NULL,NULL),(3096,'UniProt Function',NULL,3906,NULL,'A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes.',NULL,NULL,NULL,NULL,NULL),(3097,'UniProt Function',NULL,3908,NULL,'Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis.',NULL,NULL,NULL,NULL,NULL),(3098,'UniProt Function',NULL,3909,NULL,'May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis.',NULL,NULL,NULL,NULL,NULL),(3099,'UniProt Function',NULL,3910,NULL,'Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).',NULL,NULL,NULL,NULL,NULL),(3100,'UniProt Function',NULL,3911,NULL,'Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).',NULL,NULL,NULL,NULL,NULL),(3101,'UniProt Function',NULL,3915,NULL,'Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 \'Ser-473\' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on \'Thr-308\' by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at \'Ser-422\'. mTORC2 also modulates the phosphorylation of PRKCA on \'Ser-657\'. PRR5 plays an important role in regulation of PDGFRB expression and in modulation of platelet-derived growth factor signaling. May act as a tumor suppressor in breast cancer.',NULL,NULL,NULL,NULL,NULL),(3102,'UniProt Function',NULL,3918,NULL,'May play a role in the scarless healing of cutaneous wounds during the first two trimesters of development.',NULL,NULL,NULL,NULL,NULL),(3103,'UniProt Function',NULL,3920,NULL,'Plays a role in male fertility (By similarity). May have a role in sperm migration or binding to zona-intact eggs (By similarity). Involved in the activation of the proacrosin/acrosin system (PubMed:27649891).',NULL,NULL,NULL,NULL,NULL),(3104,'UniProt Function',NULL,3922,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC5 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides.',NULL,NULL,NULL,NULL,NULL),(3105,'UniProt Function',NULL,3923,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC2 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides.',NULL,NULL,NULL,NULL,NULL),(3106,'UniProt Function',NULL,3925,NULL,'May play a role in anteroposterior axis elongation.',NULL,NULL,NULL,NULL,NULL),(3107,'UniProt Function',NULL,3929,NULL,'Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Inhibits the transactivation function of HIF-1A under both normoxic and hypoxia-mimicking conditions. The interaction with EMAP2 increases the proteasome-mediated HIF-1A degradation under the hypoxic conditions. Plays a role in hepatitis C virus internal ribosome entry site-mediated translation. Mediates nuclear translocation of the androgen receptor (AR) and thereby enhances androgen-mediated transactivation. Promotes MAVS degradation and thereby negatively regulates MAVS-mediated innate immune response.',NULL,NULL,NULL,NULL,NULL),(3108,'UniProt Function',NULL,3930,NULL,'Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.',NULL,NULL,NULL,NULL,NULL),(3109,'UniProt Function',NULL,3931,NULL,'Acts as a suppressor of the SAPK signaling pathways by associating with and dephosphorylating MAP3K7/TAK1 and MAP3K5, and by attenuating the association between MAP3K7/TAK1 and MAP2K4 or MAP2K6.',NULL,NULL,NULL,NULL,NULL),(3110,'UniProt Function',NULL,3933,NULL,'Glycogen-targeting subunit for protein phosphatase 1 (PP1).',NULL,NULL,NULL,NULL,NULL),(3111,'UniProt Function',NULL,3934,NULL,'Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology.',NULL,NULL,NULL,NULL,NULL),(3112,'UniProt Function',NULL,3935,NULL,'May be involved in ER/Golgi transport and vesicular traffic. Plays a proapoptotic role in cerulenin-induced neuroblastoma apoptosis.',NULL,NULL,NULL,NULL,NULL),(3113,'UniProt Function',NULL,3936,NULL,'Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events.',NULL,NULL,NULL,NULL,NULL),(3114,'UniProt Function',NULL,3937,NULL,'Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates hematopoiesis-associated protein-coding and microRNA (miRNA) genes. May regulate the expression of proteins involved in extracellular matrix development and maintenance, including fibrillar collagens, such as COL4A1 and COL11A1, connective tissue components, such as HAPLN1, and molecules regulating cell migration and adhesion, including EDIL3 and TGFB2. May caused G2/M arrest and apoptosis in cancer cells.',NULL,NULL,NULL,NULL,NULL),(3115,'UniProt Function',NULL,3938,NULL,'May be required for pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(3116,'UniProt Function',NULL,3939,NULL,'Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2) (PubMed:9497357). Reduces an intramolecular disulfide bond in GDPD5 that gates the ability to GDPD5 to drive postmitotic motor neuron differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(3117,'UniProt Function',NULL,3940,NULL,'Maintains low levels of EIF2S1 phosphorylation in unstressed cells by promoting its dephosphorylation by PP1.',NULL,NULL,NULL,NULL,NULL),(3118,'UniProt Function',NULL,3941,NULL,'Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides (PubMed:7733872, PubMed:17707404). Acts synergistically with MAP3K13 to regulate the activation of NF-kappa-B in the cytosol (PubMed:12492477).',NULL,NULL,NULL,NULL,NULL),(3119,'UniProt Function',NULL,3942,NULL,'Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor.',NULL,NULL,NULL,NULL,NULL),(3120,'UniProt Function',NULL,3943,NULL,'Involved in the planar cell polarity (PCP) pathway that is essential for the polarization of epithelial cells during morphogenetic processes, including gastrulation and neurulation (By similarity). PCP is maintained by two molecular modules, the global and the core modules, PRICKLE3 being part of the core module (By similarity). Distinct complexes of the core module segregate to opposite sides of the cell, where they interact with the opposite complex in the neighboring cell at or near the adherents junctions (By similarity). Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity).',NULL,NULL,NULL,NULL,NULL),(3121,'UniProt Function',NULL,3944,NULL,'Prolactin acts primarily on the mammary gland by promoting lactation.',NULL,NULL,NULL,NULL,NULL),(3122,'UniProt Function',NULL,3945,NULL,'Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as an agonist for ADGRG6 receptor. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) (By similarity). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also provides Cu(2+) or ZN(2+) for the ascorbate-mediated GPC1 deaminase degradation of its heparan sulfate side chains (By similarity).',NULL,NULL,NULL,NULL,NULL),(3123,'UniProt Function',NULL,3946,NULL,'Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex.',NULL,NULL,NULL,NULL,NULL),(3124,'UniProt Function',NULL,3947,NULL,'Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(3125,'UniProt Function',NULL,3948,NULL,'Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA production by DICER1 and for subsequent siRNA-mediated post-transcriptional gene silencing. Does not seem to be required for processing of pre-miRNA to miRNA by DICER1. Promotes UBC9-p53/TP53 association and sumoylation and phosphorylation of p53/TP53 at \'Lys-386\' at \'Ser-392\' respectively and enhances its activity in a EIF2AK2/PKR-dependent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(3126,'UniProt Function',NULL,3950,NULL,'May function as an output molecule from the suprachiasmatic nucleus (SCN) that transmits behavioral circadian rhythm. May also function locally within the SCN to synchronize output. Potently contracts gastrointestinal (GI) smooth muscle.',NULL,NULL,NULL,NULL,NULL),(3127,'UniProt Function',NULL,3952,NULL,'May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (PubMed:20818439).',NULL,NULL,NULL,NULL,NULL),(3128,'UniProt Function',NULL,3954,NULL,'Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.',NULL,NULL,NULL,NULL,NULL),(3129,'UniProt Function',NULL,3955,NULL,'Appears to assist hemostasis by binding thrombin and promoting its association with phospholipid vesicles. Inhibits activity of the coagulation protease factor Xa in the presence of SERPINA10, calcium and phospholipids.',NULL,NULL,NULL,NULL,NULL),(3130,'UniProt Function',NULL,3956,NULL,'Component of the large ribosomal subunit (PubMed:26290468). Plays a role in the formation of actively translating ribosomes (PubMed:26290468). May play a role in the embryonic brain development (PubMed:25316788).',NULL,NULL,NULL,NULL,NULL),(3131,'UniProt Function',NULL,3957,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11867543, PubMed:28781166). Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:11867543).',NULL,NULL,NULL,NULL,NULL),(3132,'UniProt Function',NULL,3958,NULL,'Associates with the spliceosome late in the splicing pathway and may function in the second step of pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(3133,'UniProt Function',NULL,3959,NULL,'Participates in the second step of pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(3134,'UniProt Function',NULL,3960,NULL,'Involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(3135,'UniProt Function',NULL,3961,NULL,'Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.',NULL,NULL,NULL,NULL,NULL),(3136,'UniProt Function',NULL,3963,NULL,'Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.',NULL,NULL,NULL,NULL,NULL),(3137,'UniProt Function',NULL,3966,NULL,'Stimulates prolactin (PRL) release and regulates the expression of prolactin through its receptor GPR10. May stimulate lactotrophs directly to secrete PRL.',NULL,NULL,NULL,NULL,NULL),(3138,'UniProt Function',NULL,3969,NULL,'As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, may inhibit SNARE complex formation and downregulate short-term facilitation.',NULL,NULL,NULL,NULL,NULL),(3139,'UniProt Function',NULL,3971,NULL,'Probable serine protease.',NULL,NULL,NULL,NULL,NULL),(3140,'UniProt Function',NULL,3972,NULL,'Serine protease required during eye development.',NULL,NULL,NULL,NULL,NULL),(3141,'UniProt Function',NULL,3973,NULL,'Serine protease that cleaves preferentially after Arg residues (PubMed:22474388, PubMed:23904161, PubMed:25156428). Can also cleave after citrulline (deimidated arginine) and methylarginine residues (PubMed:25156428).',NULL,NULL,NULL,NULL,NULL),(3142,'UniProt Function',NULL,3975,NULL,'Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, survival and proliferation. Up-regulates Na(+) channels: SCNN1A/ENAC, K(+) channels: KCNA3/Kv1.3, KCNE1 and KCNQ1, amino acid transporter: SLC6A19, glutamate transporter: SLC1A6/EAAT4, glutamate receptors: GRIA1/GLUR1 and GRIK2/GLUR6, Na(+)/H(+) exchanger: SLC9A3/NHE3, and the Na(+)/K(+) ATPase.',NULL,NULL,NULL,NULL,NULL),(3143,'UniProt Function',NULL,3976,NULL,'Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome movements. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I (By similarity).',NULL,NULL,NULL,NULL,NULL),(3144,'UniProt Function',NULL,3978,NULL,'Probable transcriptional activator.',NULL,NULL,NULL,NULL,NULL),(3145,'UniProt Function',NULL,3979,NULL,'Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates \'Lys-9\' (H3K9me) and \'Lys-27\' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A.',NULL,NULL,NULL,NULL,NULL),(3146,'UniProt Function',NULL,3980,NULL,'Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity).',NULL,NULL,NULL,NULL,NULL),(3147,'UniProt Function',NULL,3980,NULL,'(Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119). Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1.',NULL,NULL,NULL,NULL,NULL),(3148,'UniProt Function',NULL,3981,NULL,'Probably plays a role in the control of regulated secretion in neural and endocrine cells.',NULL,NULL,NULL,NULL,NULL),(3149,'UniProt Function',NULL,3981,NULL,'(Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119). Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1.',NULL,NULL,NULL,NULL,NULL),(3150,'UniProt Function',NULL,3984,NULL,'May play an important role in controlling cell growth and proliferation through the selective translation of particular classes of mRNA.',NULL,NULL,NULL,NULL,NULL),(3151,'UniProt Function',NULL,3985,NULL,'Involved in the control of the mammalian target of rapamycin complex 1 (mTORC1) activity which regulates cell growth and survival, and autophagy in response to nutrient and hormonal signals; functions as a scaffold for recruiting mTORC1 substrates. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at \'Thr-389\', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Involved in ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(3152,'UniProt Function',NULL,3987,NULL,'May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis.',NULL,NULL,NULL,NULL,NULL),(3153,'UniProt Function',NULL,3988,NULL,'Involved in pre-mRNA alternative splicing.',NULL,NULL,NULL,NULL,NULL),(3154,'UniProt Function',NULL,3989,NULL,'Plays an essential role in anchoring sperm head to the tail. Is responsible for the attachment of the coupling apparatus to the sperm nuclear envelope.',NULL,NULL,NULL,NULL,NULL),(3155,'UniProt Function',NULL,3992,NULL,'Mediates sugar transport across membranes. May stimulate V(D)J recombination by the activation of RAG1.',NULL,NULL,NULL,NULL,NULL),(3156,'UniProt Function',NULL,3993,NULL,'Plays a role in melanocyte differentiation; enhances dendrite outgrowth, melanin content and tyrosinase activity through the modulation of ERK and/or CREB pathways (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(3157,'UniProt Function',NULL,3994,NULL,'Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2. May act as a negative regulator of cyclin-D1 (CCND1) and cyclin-E (CCNE1) in the cell cycle.',NULL,NULL,NULL,NULL,NULL),(3158,'UniProt Function',NULL,3996,NULL,'Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein).',NULL,NULL,NULL,NULL,NULL),(3159,'UniProt Function',NULL,3997,NULL,'Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Plays a central role in the regulatory network for splicing, controlling the intranuclear distribution of splicing factors in interphase cells and the reorganization of nuclear speckles during mitosis. Can influence additional steps of mRNA maturation, as well as other cellular activities, such as chromatin reorganization in somatic and sperm cells and cell cycle progression. Isoform 2 phosphorylates SFRS2, ZRSR2, LBR and PRM1. Isoform 2 phosphorylates SRSF1 using a directional (C-terminal to N-terminal) and a dual-track mechanism incorporating both processive phosphorylation (in which the kinase stays attached to the substrate after each round of phosphorylation) and distributive phosphorylation steps (in which the kinase and substrate dissociate after each phosphorylation event). The RS domain of SRSF1 binds first to a docking groove in the large lobe of the kinase domain of SRPK1. This induces certain structural changes in SRPK1 and/or RRM2 domain of SRSF1, allowing RRM2 to bind the kinase and initiate phosphorylation. The cycles continue for several phosphorylation steps in a processive manner (steps 1-8) until the last few phosphorylation steps (approximately steps 9-12). During that time, a mechanical stress induces the unfolding of the beta-4 motif in RRM2, which then docks at the docking groove of SRPK1. This also signals RRM2 to begin to dissociate, which facilitates SRSF1 dissociation after phosphorylation is completed. Isoform 2 can mediate hepatitis B virus (HBV) core protein phosphorylation. It plays a negative role in the regulation of HBV replication through a mechanism not involving the phosphorylation of the core protein but by reducing the packaging efficiency of the pregenomic RNA (pgRNA) without affecting the formation of the viral core particles. Isoform 1 and isoform 2 can induce splicing of exon 10 in MAPT/TAU. The ratio of isoform 1/isoform 2 plays a decisive role in determining cell fate in K-562 leukaemic cell line: isoform 2 favors proliferation where as isoform 1 favors differentiation.',NULL,NULL,NULL,NULL,NULL),(3160,'UniProt Function',NULL,3998,NULL,'May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction.',NULL,NULL,NULL,NULL,NULL),(3161,'UniProt Function',NULL,3999,NULL,'May be involved in a circadian clock input pathway.',NULL,NULL,NULL,NULL,NULL),(3162,'UniProt Function',NULL,4000,NULL,'Part of pre- and post-splicing multiprotein mRNP complexes. Involved in numerous pre-mRNA processing events. Promotes constitutive and exonic splicing enhancer (ESE)-dependent splicing activation by bridging together sequence-specific (SR family proteins, SFRS4, SFRS5 and TRA2B/SFRS10) and basal snRNP (SNRP70 and SNRPA1) factors of the spliceosome. Stimulates mRNA 3\'-end cleavage independently of the formation of an exon junction complex. Binds both pre-mRNA and spliced mRNA 20-25 nt upstream of exon-exon junctions. Binds RNA and DNA with low sequence specificity and has similar preference for either double- or single-stranded nucleic acid substrates.',NULL,NULL,NULL,NULL,NULL),(3163,'UniProt Function',NULL,4001,NULL,'Splicing factor specifically required for neural cell differentiation. Acts in conjunction with nPTB/PTBP2 by binding directly to its regulated target transcripts and promotes neural-specific exon inclusion in many genes that function in neural cell differentiation. Required to promote the inclusion of neural-specific exon 10 in nPTB/PTBP2, leading to increased expression of neural-specific nPTB/PTBP2. Also promotes the inclusion of exon 16 in DAAM1 in neuron extracts. Promotes alternative splicing of REST transcripts to produce a REST isoform (REST4) with greatly reduced repressive activity, thereby activating expression of REST targets in neural cells. Plays an important role during embryonic development as well as in the proper functioning of the adult nervous system. Regulates alternative splicing events in genes with important neuronal functions (By similarity).',NULL,NULL,NULL,NULL,NULL),(3164,'UniProt Function',NULL,4002,NULL,'Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5\'- and 3\'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5\'-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5\'-RGAAGAAC-3\' (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5\'-CGAGGCG-3\' motif in vitro. Three copies of the octamer constitute a powerful splicing enhancer in vitro, the ASF/SF2 splicing enhancer (ASE) which can specifically activate ASE-dependent splicing. Isoform ASF-2 and isoform ASF-3 act as splicing repressors. May function as export adapter involved in mRNA nuclear export through the TAP/NXF1 pathway.',NULL,NULL,NULL,NULL,NULL),(3165,'UniProt Function',NULL,4003,NULL,'Splicing factor that specifically promotes exon-inclusion during alternative splicing (PubMed:26876937). Interaction with YTHDC1, a RNA-binding protein that recognizes and binds N6-methyladenosine (m6A)-containing RNAs, promotes recruitment of SRSF3 to its mRNA-binding elements adjacent to m6A sites, leading to exon-inclusion during alternative splicing (PubMed:26876937). Also functions as export adapter involved in mRNA nuclear export (PubMed:11336712, PubMed:18364396, PubMed:28984244). Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA-binding activity (PubMed:11336712, PubMed:18364396). Involved in nuclear export of m6A-containing mRNAs via interaction with YTHDC1: interaction with YTHDC1 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export (PubMed:28984244). RNA-binding is semi-sequence specific (PubMed:17036044).',NULL,NULL,NULL,NULL,NULL),(3166,'UniProt Function',NULL,4004,NULL,'Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10.',NULL,NULL,NULL,NULL,NULL),(3167,'UniProt Function',NULL,4005,NULL,'May play a role in trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development. May negatively regulate cell-cell fusion by interacting with SLC1A5, the probable receptor on the cell surface of the fusogenic syncytin-1/ERVW-1.',NULL,NULL,NULL,NULL,NULL),(3168,'UniProt Function',NULL,4006,NULL,'Involved in translation as a component of the 40S small ribosomal subunit (PubMed:8706699). Has endonuclease activity and plays a role in repair of damaged DNA (PubMed:7775413). Cleaves phosphodiester bonds of DNAs containing altered bases with broad specificity and cleaves supercoiled DNA more efficiently than relaxed DNA (PubMed:15707971). Displays high binding affinity for 7,8-dihydro-8-oxoguanine (8-oxoG), a common DNA lesion caused by reactive oxygen species (ROS) (PubMed:14706345). Has also been shown to bind with similar affinity to intact and damaged DNA (PubMed:18610840). Stimulates the N-glycosylase activity of the base excision protein OGG1 (PubMed:15518571). Enhances the uracil excision activity of UNG1 (PubMed:18973764). Also stimulates the cleavage of the phosphodiester backbone by APEX1 (PubMed:18973764). When located in the mitochondrion, reduces cellular ROS levels and mitochondrial DNA damage (PubMed:23911537). Has also been shown to negatively regulate DNA repair in cells exposed to hydrogen peroxide (PubMed:17049931). Plays a role in regulating transcription as part of the NF-kappa-B p65-p50 complex where it binds to the RELA/p65 subunit, enhances binding of the complex to DNA and promotes transcription of target genes (PubMed:18045535). Represses its own translation by binding to its cognate mRNA (PubMed:20217897). Binds to and protects TP53/p53 from MDM2-mediated ubiquitination (PubMed:19656744). Involved in spindle formation and chromosome movement during mitosis by regulating microtubule polymerization (PubMed:23131551). Involved in induction of apoptosis through its role in activation of CASP8 (PubMed:14988002). Induces neuronal apoptosis by interacting with the E2F1 transcription factor and acting synergistically with it to up-regulate pro-apoptotic proteins BCL2L11/BIM and HRK/Dp5 (PubMed:20605787). Interacts with TRADD following exposure to UV radiation and induces apoptosis by caspase-dependent JNK activation (PubMed:22510408).',NULL,NULL,NULL,NULL,NULL),(3169,'UniProt Function',NULL,4009,NULL,'Histone methyltransferase that specifically trimethylates \'Lys-9\' of histone H3 using monomethylated H3 \'Lys-9\' as substrate. H3 \'Lys-9\' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 \'Lys-9\' trimethylation is also required to direct DNA methylation at pericentric repeats. SUV39H1 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as cell cycle regulation, transcriptional repression and regulation of telomere length. May participate in regulation of higher-order chromatin organization during spermatogenesis. Recruited by the large PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1, contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 \'Lys-9\' trimethylation.',NULL,NULL,NULL,NULL,NULL),(3170,'UniProt Function',NULL,4011,NULL,'Involved in mediating interferon-gamma-induced cell death.',NULL,NULL,NULL,NULL,NULL),(3171,'UniProt Function',NULL,4012,NULL,'May play an important role in lymphopoiesis.',NULL,NULL,NULL,NULL,NULL),(3172,'UniProt Function',NULL,4014,NULL,'Receptor for RTN4, OMG and MAG (PubMed:12037567, PubMed:12068310, PubMed:12426574, PubMed:12089450, PubMed:16712417, PubMed:18411262, PubMed:12839991, PubMed:19052207). Functions as receptor for the sialylated gangliosides GT1b and GM1 (PubMed:18411262). Besides, functions as receptor for chondroitin sulfate proteoglycans (By similarity). Can also bind heparin (By similarity). Intracellular signaling cascades are triggered via the coreceptor NGFR (PubMed:12426574). Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton (PubMed:16712417, PubMed:22325200). Mediates axonal growth inhibition (PubMed:12839991, PubMed:19052207, PubMed:28892071). Plays a role in regulating axon regeneration and neuronal plasticity in the adult central nervous system. Plays a role in postnatal brain development. Required for normal axon migration across the brain midline and normal formation of the corpus callosum. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated via interaction with MAG. Acts in conjunction with RTN4 and LINGO1 in regulating neuronal precursor cell motility during cortical development. Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development (PubMed:22325200).',NULL,NULL,NULL,NULL,NULL),(3173,'UniProt Function',NULL,4015,NULL,'Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28738062, PubMed:28703881). Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5\'-PYGPYGGT-3\', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation.',NULL,NULL,NULL,NULL,NULL),(3174,'UniProt Function',NULL,4016,NULL,'Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:23246290, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone 3\'-end processing (PubMed:12975319). May indirectly play a role in hair development (PubMed:23246290).',NULL,NULL,NULL,NULL,NULL),(3175,'UniProt Function',NULL,4017,NULL,'Sodium-independent organic anion transporter which exhibits high specificity for sulfated conjugates of xenobiotics and steroid hormones. It is also specifically activated by 3 to 5 carbons-containing short-chain fatty acids/SCFAs, including propionate, butyrate and valerate. May operate the exchange of sulfated organic components against short-chain fatty acids/SCFAs at the sinusoidal membrane of hepatocytes.',NULL,NULL,NULL,NULL,NULL),(3176,'UniProt Function',NULL,4018,NULL,'Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262).',NULL,NULL,NULL,NULL,NULL),(3177,'UniProt Function',NULL,4020,NULL,'Apical membrane anion-exchanger with wide epithelial distribution that plays a role as a component of the pH buffering system for maintaining acid-base homeostasis. Acts as a versatile DIDS-sensitive inorganic and organic anion transporter that mediates the uptake of monovalent anions like chloride, bicarbonate, formate and hydroxyl ion and divalent anions like sulfate and oxalate. Function in multiple exchange modes involving pairs of these anions, which include chloride-bicarbonate, chloride-oxalate, oxalate-formate, oxalate-sulfate and chloride-formate exchange. Apical membrane chloride-bicarbonate exchanger that mediates luminal chloride absorption and bicarbonate secretion by the small intestinal brush border membrane and contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption, possibly by providing a bicarbonate import pathway. Mediates also intestinal chloride absorption and oxalate secretion, thereby preventing hyperoxaluria and calcium oxalate urolithiasis. Transepithelial oxalate secretion, chloride-formate, chloride-oxalate and chloride-bicarbonate transport activities in the duodenum are inhibited by PKC activation in a calcium-independent manner. The apical membrane chloride-bicarbonate exchanger provides also a major route for fluid and bicarbonate secretion into the proximal tubules of the kidney as well as into the proximal part of the interlobular pancreatic ductal tree, where it mediates electrogenic chloride-bicarbonate exchange with a chloride-bicarbonate stoichiometry of 1:2, and hence will dilute and alkalinize protein-rich acinar secretion. Mediates also the transcellular sulfate absorption and oxalate secretion across the apical membrane in the duodenum and the formate ion efflux at the apical brush border of cells in the proximal tubules of kidney. Plays a role in sperm capacitation by increasing intracellular pH.',NULL,NULL,NULL,NULL,NULL),(3178,'UniProt Function',NULL,4020,NULL,'Isoform 4: Apical membrane chloride-bicarbonate exchanger. Its association with carbonic anhydrase CA2 forms a bicarbonate transport metabolon; hence maximizes the local concentration of bicarbonate at the transporter site.',NULL,NULL,NULL,NULL,NULL),(3179,'UniProt Function',NULL,4021,NULL,'Mediates zinc uptake. Zinc uptake may be mediated by a Zn(2+)-HCO(3)(-) symport mechanism and can function in the presence of albumin. May also transport other divalent cations. May be important in contact inhibition of normal epithelial cells and loss of its expression may play a role in tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(3180,'UniProt Function',NULL,4022,NULL,'May play a role in hemostasis as a regulator of the biosynthesis of platelet-dense granules.',NULL,NULL,NULL,NULL,NULL),(3181,'UniProt Function',NULL,4023,NULL,'Uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transporter in the Golgi apparatus. May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate branching of diantennary oligosaccharides.',NULL,NULL,NULL,NULL,NULL),(3182,'UniProt Function',NULL,4024,NULL,'Functions as a cellular zinc transporter.',NULL,NULL,NULL,NULL,NULL),(3183,'UniProt Function',NULL,4026,NULL,'Plays a role in promoting the proliferation of synovial fibroblasts in response to proinflammatory stimuli.',NULL,NULL,NULL,NULL,NULL),(3184,'UniProt Function',NULL,4027,NULL,'Functions as a sodium-independent electroneutral transporter for tryptophan, proline and alanine. Inhibited by sarcosine.',NULL,NULL,NULL,NULL,NULL),(3185,'UniProt Function',NULL,4028,NULL,'The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2.',NULL,NULL,NULL,NULL,NULL),(3186,'UniProt Function',NULL,4029,NULL,'Major acute phase reactant. Apolipoprotein of the HDL complex.',NULL,NULL,NULL,NULL,NULL),(3187,'UniProt Function',NULL,4030,NULL,'Functions as a sodium-dependent neutral amino acid transporter. Exhibits preference for the branched-chain amino acids, particularly leucine, valine and isoleucine and methionine. Mediates the saturable, pH-sensitive and electrogenic cotransport of proline and sodium ions with a stoichiometry of 1:1. May have a role as transporter for neurotransmitter precursors into neurons. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent.',NULL,NULL,NULL,NULL,NULL),(3188,'UniProt Function',NULL,4031,NULL,'Converts testosterone into 5-alpha-dihydrotestosterone and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology.',NULL,NULL,NULL,NULL,NULL),(3189,'UniProt Function',NULL,4032,NULL,'U6 snRNP-binding protein that functions as a recycling factor of the splicing machinery. Promotes the initial reassembly of U4 and U6 snRNPs following their ejection from the spliceosome during its maturation (PubMed:12032085). Also binds U6atac snRNPs and may function as a recycling factor for U4atac/U6atac spliceosomal snRNP, an initial step in the assembly of U12-type spliceosomal complex. The U12-type spliceosomal complex plays a role in the splicing of introns with non-canonical splice sites (PubMed:14749385). May also function as a substrate-targeting factor for deubiquitinases like USP4 and USP15. Recruits USP4 to ubiquitinated PRPF3 within the U4/U5/U6 tri-snRNP complex, promoting PRPF3 deubiquitination and thereby regulating the spliceosome U4/U5/U6 tri-snRNP spliceosomal complex disassembly (PubMed:20595234). May also recruit the deubiquitinase USP15 to histone H2B and mediate histone deubiquitination, thereby regulating gene expression and/or DNA repair (PubMed:24526689). May play a role in hematopoiesis probably through transcription regulation of specific genes including MYC (By similarity).',NULL,NULL,NULL,NULL,NULL),(3190,'UniProt Function',NULL,4032,NULL,'Regulates Tat transactivation activity through direct interaction. May be a cellular factor for HIV-1 gene expression and viral replication.',NULL,NULL,NULL,NULL,NULL),(3191,'UniProt Function',NULL,4033,NULL,'Crucial silencing factor contributing to the initiation of X inactivation mediated by Xist RNA that occurs during embryogenesis and in lymphoma (By similarity). Binds to DNA at special AT-rich sequences, the consensus SATB1-binding sequence (CSBS), at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcriptional repressor controlling nuclear and viral gene expression in a phosphorylated and acetylated status-dependent manner, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes (e.g. PML at the MHC-I locus) and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Modulates genes that are essential in the maturation of the immune T-cell CD8SP from thymocytes. Required for the switching of fetal globin species, and beta- and gamma-globin genes regulation during erythroid differentiation. Plays a role in chromatin organization and nuclear architecture during apoptosis. Interacts with the unique region (UR) of cytomegalovirus (CMV). Alu-like motifs and SATB1-binding sites provide a unique chromatin context which seems preferentially targeted by the HIV-1 integration machinery. Moreover, HIV-1 Tat may overcome SATB1-mediated repression of IL2 and IL2RA (interleukin) in T-cells by binding to the same domain than HDAC1. Delineates specific epigenetic modifications at target gene loci, directly up-regulating metastasis-associated genes while down-regulating tumor-suppressor genes. Reprograms chromatin organization and the transcription profiles of breast tumors to promote growth and metastasis.',NULL,NULL,NULL,NULL,NULL),(3192,'UniProt Function',NULL,4036,NULL,'SNARE involved in targeting and fusion of ER-derived transport vesicles with the Golgi complex as well as Golgi-derived retrograde transport vesicles with the ER.',NULL,NULL,NULL,NULL,NULL),(3193,'UniProt Function',NULL,4037,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(3194,'UniProt Function',NULL,4038,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(3195,'UniProt Function',NULL,4039,NULL,'Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria.',NULL,NULL,NULL,NULL,NULL),(3196,'UniProt Function',NULL,4040,NULL,'Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane (PubMed:15123600). May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria (PubMed:15123600). Acts as a regulator of mitochondrial calcium uptake via interaction with MCU and MICU1 (PubMed:24430870).',NULL,NULL,NULL,NULL,NULL),(3197,'UniProt Function',NULL,4041,NULL,'Lipid tetraspanin-associated transmembrane adapter/mediator involved in major histocompatibility complex (MHC) class II signaling transduction. Required in generating the calcium response and enhancing ERK activity upon MHC-II stimulation.',NULL,NULL,NULL,NULL,NULL),(3198,'UniProt Function',NULL,4042,NULL,'Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. May be involved in spermatogenesis during sexual maturation (By similarity).',NULL,NULL,NULL,NULL,NULL),(3199,'UniProt Function',NULL,4043,NULL,'Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the susceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone venom.',NULL,NULL,NULL,NULL,NULL),(3200,'UniProt Function',NULL,4044,NULL,'Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, plays a more general role in chromatin regulation. Preferentially binds to CpG-rich sequences at promoters of both transcriptionally active and Polycomb-repressed genes. Involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT. Also involved in transcription repression of a subset of genes through recruitment of transcriptional repressors to promoters. Involved in the balance between pluripotency and lineage commitment of cells it plays a role in embryonic stem cells maintenance and inner cell mass cell specification. Plays an important role in the tumorigenicity of glioblastoma cells. TET1-mediated production of 5hmC acts as a recruitment signal for the CHTOP-methylosome complex to selective sites on the chromosome, where it methylates H4R3 and activates the transcription of genes involved in glioblastomagenesis (PubMed:25284789).',NULL,NULL,NULL,NULL,NULL),(3201,'UniProt Function',NULL,4045,NULL,'Catalyzes the decomposition of L-selenocysteine to L-alanine and elemental selenium.',NULL,NULL,NULL,NULL,NULL),(3202,'UniProt Function',NULL,4046,NULL,'Probable nucleotidyltransferase that may act as a non-canonical poly(A) RNA polymerase.',NULL,NULL,NULL,NULL,NULL),(3203,'UniProt Function',NULL,4049,NULL,'Regulates exocytosis in mast cells. Increases both the extent of secretion and the sensitivity of mast cells to stimulation with calcium (By similarity).',NULL,NULL,NULL,NULL,NULL),(3204,'UniProt Function',NULL,4050,NULL,'Regulator of crossing-over during meiosis. Involved in initiation and/or maintenance of chromosome synapsis and formation of crossovers.',NULL,NULL,NULL,NULL,NULL),(3205,'UniProt Function',NULL,4051,NULL,'Receptor for different ligands such as phospholipids, cholesterol ester, lipoproteins, phosphatidylserine and apoptotic cells (PubMed:12016218, PubMed:12519372, PubMed:21226579). Receptor for HDL, mediating selective uptake of cholesteryl ether and HDL-dependent cholesterol efflux (PubMed:26965621). Also facilitates the flux of free and esterified cholesterol between the cell surface and apoB-containing lipoproteins and modified lipoproteins, although less efficiently than HDL. May be involved in the phagocytosis of apoptotic cells, via its phosphatidylserine binding activity (PubMed:12016218).',NULL,NULL,NULL,NULL,NULL),(3206,'UniProt Function',NULL,4051,NULL,'(Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes and appears to facilitate its cell entry (PubMed:12356718, PubMed:12913001, PubMed:18000990). Binding between SCARB1 and the hepatitis C virus glycoprotein E2 is independent of the genotype of the viral isolate (PubMed:12356718). Mediates uptake of M.fortuitum, E.coli and S.aureus (PubMed:16020694).',NULL,NULL,NULL,NULL,NULL),(3207,'UniProt Function',NULL,4053,NULL,'Required for mitochondrial translation, plays a role in maintaining the stability of the small ribosomal subunit and the 12S rRNA that are required for mitoribosome formation.',NULL,NULL,NULL,NULL,NULL),(3208,'UniProt Function',NULL,4055,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Associated with sn-RNP U2, where it contributes to the binding of stem loop IV of U2 snRNA (PubMed:9716128).',NULL,NULL,NULL,NULL,NULL),(3209,'UniProt Function',NULL,4056,NULL,'Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5\' splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5\' splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5\' splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates commitment or early (E) complex formation by stabilizing the base pairing of the 5\' end of the U1 snRNA and the 5\' splice-site region.',NULL,NULL,NULL,NULL,NULL),(3210,'UniProt Function',NULL,4059,NULL,'Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5\'-TGTGGT-3\', or very rarely, 5\'-TGCGGT-3\', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters (By similarity). May be involved in the control of cellular proliferation and/or differentiation. In association with ZFHX3, upregulates CDKN1A promoter activity following TGF-beta stimulation (PubMed:20599712). CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (By similarity).',NULL,NULL,NULL,NULL,NULL),(3211,'UniProt Function',NULL,4061,NULL,'Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:11741831, PubMed:16163667). Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm (PubMed:18268335). Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(3212,'UniProt Function',NULL,4062,NULL,'Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids.',NULL,NULL,NULL,NULL,NULL),(3213,'UniProt Function',NULL,4064,NULL,'May be involved in epidermal differentiation and inflammation and might therefore be important for the pathogenesis of psoriasis and other diseases.',NULL,NULL,NULL,NULL,NULL),(3214,'UniProt Function',NULL,4066,NULL,'Mediates tubular uptake of organic compounds from circulation. Mediates the influx of agmatine, dopamine, noradrenaline (norepinephrine), serotonin, choline, famotidine, ranitidine, histamin, creatinine, amantadine, memantine, acriflavine, 4-[4-(dimethylamino)-styryl]-N-methylpyridinium ASP, amiloride, metformin, N-1-methylnicotinamide (NMN), tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, cisplatin and oxaliplatin. Cisplatin may develop a nephrotoxic action. Transport of creatinine is inhibited by fluoroquinolones such as DX-619 and LVFX. This transporter is a major determinant of the anticancer activity of oxaliplatin and may contribute to antitumor specificity.',NULL,NULL,NULL,NULL,NULL),(3215,'UniProt Function',NULL,4067,NULL,'Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides (PubMed:7756356). Transports the dipeptide-like aminopeptidase inhibitor bestatin (By similarity). Can also transport the aminocephalosporin antibiotic cefadroxil (By similarity).',NULL,NULL,NULL,NULL,NULL),(3216,'UniProt Function',NULL,4069,NULL,'Probably transports organic cations (By similarity). Appears not to be the agmatine transporter.',NULL,NULL,NULL,NULL,NULL),(3217,'UniProt Function',NULL,4070,NULL,'Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Transports preferentially cytosine and uracil (deoxy)nucleoside mono-, di-, and triphosphates by uniport and antiport mechanism. Also transports guanine but not adenine (deoxy)nucleotides. Is inhibited strongly by pyridoxal 5\'-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride, Mersalyl acid, p-hydroxymercuribenzoate). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration.',NULL,NULL,NULL,NULL,NULL),(3218,'UniProt Function',NULL,4071,NULL,'Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions. May be involved in urate extrusion from the intestinal duct. May recognize hydrophilic anionic drugs such as aspirin, salicylate, and ibuprofen as substrates. Able to actively transport inorganic phosphate into cells via Na(+) cotransport (in vitro).',NULL,NULL,NULL,NULL,NULL),(3219,'UniProt Function',NULL,4072,NULL,'Putative transporter.',NULL,NULL,NULL,NULL,NULL),(3220,'UniProt Function',NULL,4073,NULL,'Mediates equilibrative transport of purine, pyrimidine nucleosides and the purine base hypoxanthine. Very less sensitive than SLC29A1 to inhibition by nitrobenzylthioinosine (NBMPR), dipyridamole, dilazep and draflazine.',NULL,NULL,NULL,NULL,NULL),(3221,'UniProt Function',NULL,4074,NULL,'Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine.',NULL,NULL,NULL,NULL,NULL),(3222,'UniProt Function',NULL,4075,NULL,'Involved in the renal elimination of endogenous and exogenous organic anions. Functions as organic anion exchanger when the uptake of one molecule of organic anion is coupled with an efflux of one molecule of endogenous dicarboxylic acid (glutarate, ketoglutarate, etc). Mediates the sodium-independent uptake of 2,3-dimercapto-1-propanesulfonic acid (DMPS) (By similarity). Mediates the sodium-independent uptake of p-aminohippurate (PAH), ochratoxin (OTA), acyclovir (ACV), 3\'-azido-3-\'deoxythymidine (AZT), cimetidine (CMD), 2,4-dichloro-phenoxyacetate (2,4-D), hippurate (HA), indoleacetate (IA), indoxyl sulfate (IS) and 3-carboxy-4-methyl-5-propyl-2-furanpropionate (CMPF), cidofovir, adefovir, 9-(2-phosphonylmethoxyethyl) guanine (PMEG), 9-(2-phosphonylmethoxyethyl) diaminopurine (PMEDAP) and edaravone sulfate. PAH uptake is inhibited by p-chloromercuribenzenesulphonate (PCMBS), diethyl pyrocarbonate (DEPC), sulindac, diclofenac, carprofen, glutarate and okadaic acid (By similarity). PAH uptake is inhibited by benzothiazolylcysteine (BTC), S-chlorotrifluoroethylcysteine (CTFC), cysteine S-conjugates S-dichlorovinylcysteine (DCVC), furosemide, steviol, phorbol 12-myristate 13-acetate (PMA), calcium ionophore A23187, benzylpenicillin, furosemide, indomethacin, bumetamide, losartan, probenecid, phenol red, urate, and alpha-ketoglutarate.',NULL,NULL,NULL,NULL,NULL),(3223,'UniProt Function',NULL,4076,NULL,'S100A12 is a calcium-, zinc- and copper-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. Its proinflammatory activity involves recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to receptor for advanced glycation endproducts (AGER). Binding to AGER activates the MAP-kinase and NF-kappa-B signaling pathways leading to production of proinflammatory cytokines and up-regulation of cell adhesion molecules ICAM1 and VCAM1. Acts as a monocyte and mast cell chemoattractant. Can stimulate mast cell degranulation and activation which generates chemokines, histamine and cytokines inducing further leukocyte recruitment to the sites of inflammation. Can inhibit the activity of matrix metalloproteinases; MMP2, MMP3 and MMP9 by chelating Zn(2+) from their active sites. Possesses filariacidal and filariastatic activity. Calcitermin possesses antifungal activity against C.albicans and is also active against E.coli and P.aeruginosa but not L.monocytogenes and S.aureus.',NULL,NULL,NULL,NULL,NULL),(3224,'UniProt Function',NULL,4077,NULL,'Mediates the transport of adenosine 3\'-phospho 5\'-phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. Compensates for the insufficient expression of SLC35B2/PAPST1 during the synthesis of sulfated glycoconjugates in the colon.',NULL,NULL,NULL,NULL,NULL),(3225,'UniProt Function',NULL,4079,NULL,'Probably acts as a Ca(2+) signal transducer (PubMed:22399290). In response to an increase in intracellular Ca(2+) levels, binds calcium which triggers a conformational change (PubMed:23351007). This conformational change allows interaction of S1001A with specific target proteins, such as TPR-containing proteins, and the modulation of their activity (PubMed:22399290).',NULL,NULL,NULL,NULL,NULL),(3226,'UniProt Function',NULL,4083,NULL,'Broad-scope metal ion transporter with a preference for zinc uptake (PubMed:29621230). Also mediates cellular uptake of nontransferrin-bound iron.',NULL,NULL,NULL,NULL,NULL),(3227,'UniProt Function',NULL,4084,NULL,'May be involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin).',NULL,NULL,NULL,NULL,NULL),(3228,'UniProt Function',NULL,4085,NULL,'Sodium-dependent and purine-selective transporter. Exhibits the transport characteristics of the nucleoside transport system cif or N1 subtype (N1/cif) (selective for purine nucleosides and uridine). Plays a critical role in specific uptake and salvage of purine nucleosides in kidney and other tissues.',NULL,NULL,NULL,NULL,NULL),(3229,'UniProt Function',NULL,4086,NULL,'Binds to scaffold/matrix attachment region (S/MAR) DNA and forms a molecular assembly point to allow the formation of a \'transcriptosomal\' complex (consisting of SR proteins and RNA polymerase II) coupling transcription and RNA processing (By similarity). Can function as an estrogen receptor corepressor and can also bind to the HSP27 promoter and decrease its transcription. When associated with RBMX, binds to and stimulates transcription from the SREBF1 promoter (By similarity). Can inhibit cell proliferation.',NULL,NULL,NULL,NULL,NULL),(3230,'UniProt Function',NULL,4087,NULL,'Sperm protein potentially involved sperm-egg fusion.',NULL,NULL,NULL,NULL,NULL),(3231,'UniProt Function',NULL,4089,NULL,'The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2.',NULL,NULL,NULL,NULL,NULL),(3232,'UniProt Function',NULL,4090,NULL,'Transporter for riboflavin, which must be obtained as a nutrient via intestinal absorption (PubMed:20463145, PubMed:24264046, PubMed:22273710, PubMed:27702554). Riboflavin transport is Na(+)-independent at low pH but significantly reduced by Na(+) depletion under neutral pH conditions (PubMed:24264046).',NULL,NULL,NULL,NULL,NULL),(3233,'UniProt Function',NULL,4091,NULL,'Multifaceted cellular regulator which coordinates several essential cellular functions including regulation of epithelial HCO3(-) and fluid secretion, mRNA processing and DNA replication. Regulates ITPR1 sensitivity to inositol 1,4,5-trisphosphate competing for the common binding site and acting as endogenous \'pseudoligand\' whose inhibitory activity can be modulated by its phosphorylation status. In the pancreatic and salivary ducts, at resting state, attenuates inositol 1,4,5-trisphosphate-induced calcium release by interacting with ITPR1 (PubMed:16793548). When extracellular stimuli induce ITPR1 phosphorylation or inositol 1,4,5-trisphosphate production, dissociates of ITPR1 to interact with CFTR and SLC26A6 mediating their synergistic activation by calcium and cAMP that stimulates the epithelial secretion of electrolytes and fluid (By similarity). Also activates basolateral SLC4A4 isoform 1 to coordinate fluid and HCO3(-) secretion (PubMed:16769890). Inhibits the effect of STK39 on SLC4A4 and CFTR by recruiting PP1 phosphatase which activates SLC4A4, SLC26A6 and CFTR through dephosphorylation (By similarity). Mediates the induction of SLC9A3 surface expression produced by Angiotensin-2 (PubMed:20584908). Depending on the cell type, activates SLC9A3 in response to calcium or reverses SLC9A3R2-dependent calcium inhibition (PubMed:18829453). May modulate the polyadenylation state of specific mRNAs, both by controlling the subcellular location of FIP1L1 and by inhibiting PAPOLA activity, in response to a stimulus that alters its phosphorylation state (PubMed:19224921). Acts as a (dATP)-dependent inhibitor of ribonucleotide reductase large subunit RRM1, controlling the endogenous dNTP pool and ensuring normal cell cycle progression (PubMed:25237103). In vitro does not exhibit any S-adenosyl-L-homocysteine hydrolase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(3234,'UniProt Function',NULL,4092,NULL,'May have a role in a signaling pathway. Could act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(3235,'UniProt Function',NULL,4093,NULL,'May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors.',NULL,NULL,NULL,NULL,NULL),(3236,'UniProt Function',NULL,4094,NULL,'Lineage-defining transcription factor which initiates Th1 lineage development from naive Th precursor cells both by activating Th1 genetic programs and by repressing the opposing Th2 and Th17 genetic programs (PubMed:10761931). Activates transcription of a set of genes important for Th1 cell function, including those encoding IFN-gamma and the chemokine receptor CXCR3. Activates IFNG and CXCR3 genes in part by recruiting chromatin remodeling complexes including KDM6B, a SMARCA4-containing SWI/SNF-complex, and an H3K4me2-methyltransferase complex to their promoters and all of these complexes serve to establish a more permissive chromatin state conducive with transcriptional activation (By similarity). Can activate Th1 genes also via recruitment of Mediator complex and P-TEFb (composed of CDK9 and CCNT1/cyclin-T1) in the form of the super elongation complex (SEC) to super-enhancers and associated genes in activated Th1 cells (PubMed:27292648). Inhibits the Th17 cell lineage commitment by blocking RUNX1-mediated transactivation of Th17 cell-specific transcriptinal regulator RORC. Inhibits the Th2 cell lineage commitment by suppressing the production of Th2 cytokines, such as IL-4, IL-5, and IL- 13, via repression of transcriptional regulators GATA3 and NFATC2. Protects Th1 cells from amplifying aberrant type-I IFN response in an IFN-gamma abundant microenvironment by acting as a repressor of type-I IFN transcription factors and type-I IFN-stimulated genes. Acts as a regulator of antiviral B-cell responses; controls chronic viral infection by promoting the antiviral antibody IgG2a isotype switching and via regulation of a broad antiviral gene expression program (By similarity).',NULL,NULL,NULL,NULL,NULL),(3237,'UniProt Function',NULL,4095,NULL,'High capacity transporter for mannose and fructose and, to a lesser extent, glucose, AMG, and galactose.',NULL,NULL,NULL,NULL,NULL),(3238,'UniProt Function',NULL,4096,NULL,'Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linking of collagen fibrils. Required for normal bone density and normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly.',NULL,NULL,NULL,NULL,NULL),(3239,'UniProt Function',NULL,4097,NULL,'May be involved in vesicle transport between the ER and the Golgi complex.',NULL,NULL,NULL,NULL,NULL),(3240,'UniProt Function',NULL,4098,NULL,'Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with COG4. Involved in vesicular transport between the endoplasmic reticulum and the Golgi (By similarity).',NULL,NULL,NULL,NULL,NULL),(3241,'UniProt Function',NULL,4099,NULL,'Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly.',NULL,NULL,NULL,NULL,NULL),(3242,'UniProt Function',NULL,4100,NULL,'Secretogranin-2 is a neuroendocrine secretory granule protein, which is the precursor for biologically active peptides.',NULL,NULL,NULL,NULL,NULL),(3243,'UniProt Function',NULL,4101,NULL,'Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER) (By similarity). Required for PKD1/Polycystin-1 biogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(3244,'UniProt Function',NULL,4102,NULL,'Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake.',NULL,NULL,NULL,NULL,NULL),(3245,'UniProt Function',NULL,4103,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(3246,'UniProt Function',NULL,4104,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(3247,'UniProt Function',NULL,4105,NULL,'Calcium-dependent mitochondrial solute carrier. Mediates the reversible, electroneutral exchange of Mg-ATP or Mg-ADP against phosphate ions, catalyzing the net uptake or efflux of adenine nucleotides across the mitochondrial inner membrane. Nucleotide transport is inactive when cytosolic calcium levels are low, and is activated by an increase in cytosolic calcium levels. May play a role in protecting cells against oxidative stress-induced cell death, probably by promoting the formation of calcium-phosphate precipitates in the mitochondrial matrix, and thereby buffering calcium levels in the mitochondrial matrix.',NULL,NULL,NULL,NULL,NULL),(3248,'UniProt Function',NULL,4106,NULL,'Plays a role in alternative splicing of pre-mRNAs, possibly by contributing to the selection of non-consensus donor sites.',NULL,NULL,NULL,NULL,NULL),(3249,'UniProt Function',NULL,4107,NULL,'Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception.',NULL,NULL,NULL,NULL,NULL),(3250,'UniProt Function',NULL,4108,NULL,'Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for 5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT.',NULL,NULL,NULL,NULL,NULL),(3251,'UniProt Function',NULL,4109,NULL,'Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.',NULL,NULL,NULL,NULL,NULL),(3252,'UniProt Function',NULL,4110,NULL,'Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.',NULL,NULL,NULL,NULL,NULL),(3253,'UniProt Function',NULL,4111,NULL,'Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking.',NULL,NULL,NULL,NULL,NULL),(3254,'UniProt Function',NULL,4112,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:27035939). Associated with sn-RNP U2, where it contributes to the binding of stem loop IV of U2 snRNA (PubMed:9716128, PubMed:27035939).',NULL,NULL,NULL,NULL,NULL),(3255,'UniProt Function',NULL,4115,NULL,'Putative signaling adapter which may play a role in neuronal differentiation. May be involved in regulation of NGF-dependent neurite outgrowth. Proposed to play a role in neuronal vesicular trafficking, specifically involving pre-synaptic membrane proteins. Seems to be involved in signaling pathways that are regulated by the prolonged activation of MAPK. Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the NF-kappa-B pathway.',NULL,NULL,NULL,NULL,NULL),(3256,'UniProt Function',NULL,4116,NULL,'Required for efficient urate re-absorption in the kidney. Regulates blood urate levels. Mediates saturable urate uptake by facilitating the exchange of urate against organic anions.',NULL,NULL,NULL,NULL,NULL),(3257,'UniProt Function',NULL,4118,NULL,'Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides.',NULL,NULL,NULL,NULL,NULL),(3258,'UniProt Function',NULL,4119,NULL,'Sodium-independent transporter of chloride and iodide.',NULL,NULL,NULL,NULL,NULL),(3259,'UniProt Function',NULL,4120,NULL,'Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ. Prestin is a bidirectional voltage-to-force converter, it can operate at microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the cytoplasmic side in response to depolarization. As a consequence, this translocation triggers conformational changes in the protein that ultimately alter its surface area in the plane of the plasma membrane. The area decreases when the anion is near the cytoplasmic face of the membrane (short state), and increases when the ion has crossed the membrane to the outer surface (long state). So, it acts as an incomplete transporter. It swings anions across the membrane, but does not allow these anions to dissociate and escape to the extracellular space. Salicylate, an inhibitor of outer hair cell motility, acts as competitive antagonist at the prestin anion-binding site (By similarity).',NULL,NULL,NULL,NULL,NULL),(3260,'UniProt Function',NULL,4122,NULL,'Organic anion transporter that mediates the uptake of estrone sulfate. Inhibited by probenecid, propionate, 2-methylbutyrate, 3-methylbutyrate, benzoate, heptanoate and 2-ethylhaxanoate. May act as an odorant transporter (By similarity).',NULL,NULL,NULL,NULL,NULL),(3261,'UniProt Function',NULL,4123,NULL,'Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the transport of amino acids at the blood-brain barrier and in the supply of maternal nutrients to the fetus through the placenta.',NULL,NULL,NULL,NULL,NULL),(3262,'UniProt Function',NULL,4124,NULL,'Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May mediate K(+) uptake into Deiters\' cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti. May be required for basolateral Cl(-) extrusion in the kidney and contribute to renal acidification (By similarity).',NULL,NULL,NULL,NULL,NULL),(3263,'UniProt Function',NULL,4125,NULL,'Sugar transporter that specifically mediates the transport of UDP-xylose (UDP-Xyl) and UDP-N-acetylglucosamine (UDP-GlcNAc) from cytosol into Golgi.',NULL,NULL,NULL,NULL,NULL),(3264,'UniProt Function',NULL,4126,NULL,'Sodium/sulfate cotransporter that mediates sulfate reabsorption in the kidney.',NULL,NULL,NULL,NULL,NULL),(3265,'UniProt Function',NULL,4127,NULL,'Plays a role in the organization of endoplasmic reticulum exit sites. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol 5-phosphate (PI(5)P).',NULL,NULL,NULL,NULL,NULL),(3266,'UniProt Function',NULL,4129,NULL,'Sodium-dependent and pyrimidine-selective. Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). It also transports the antiviral pyrimidine nucleoside analogs 3\'-azido-3\'-deoxythymidine (AZT) and 2\',3\'-dideoxycytidine (ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used to treat acquired immunodeficiency syndrome (AIDS). It has the following selective inhibition: adenosine, thymidine, cytidine, uridine >> guanosine, inosine.',NULL,NULL,NULL,NULL,NULL),(3267,'UniProt Function',NULL,4130,NULL,'Mediates the transport L-aspartate and L-glutamate in a sodium-independent manner.',NULL,NULL,NULL,NULL,NULL),(3268,'UniProt Function',NULL,4131,NULL,'May be involved in arginine transport.',NULL,NULL,NULL,NULL,NULL),(3269,'UniProt Function',NULL,4132,NULL,'Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine (By similarity).',NULL,NULL,NULL,NULL,NULL),(3270,'UniProt Function',NULL,4133,NULL,'Phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 4-phosphate (PtdIns(4)P) (PubMed:24209621). Has low activity towards PtdIns(3,5)P2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(3271,'UniProt Function',NULL,4134,NULL,'Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry. Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an associated sodium channel activity.',NULL,NULL,NULL,NULL,NULL),(3272,'UniProt Function',NULL,4135,NULL,'Involved in transport from the endoplasmic reticulum to the Golgi apparatus (By similarity). Required to maintain SEC16A localization at discrete locations on the ER membrane perhaps by preventing its dissociation. SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining endoplasmic reticulum exit sites (ERES).',NULL,NULL,NULL,NULL,NULL),(3273,'UniProt Function',NULL,4136,NULL,'Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure.',NULL,NULL,NULL,NULL,NULL),(3274,'UniProt Function',NULL,4137,NULL,'Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells.',NULL,NULL,NULL,NULL,NULL),(3275,'UniProt Function',NULL,4138,NULL,'The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3.',NULL,NULL,NULL,NULL,NULL),(3276,'UniProt Function',NULL,4140,NULL,'Essential for gene silencing: has a role in the structure of silenced chromatin. Plays a role in the developing brain (By similarity).',NULL,NULL,NULL,NULL,NULL),(3277,'UniProt Function',NULL,4141,NULL,'Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks (PubMed:19525956, PubMed:21613998, PubMed:21720370, PubMed:23602554, PubMed:23601106, PubMed:22056990, PubMed:24336198, PubMed:26294762, PubMed:26431200, PubMed:28229507, PubMed:28834754, PubMed:29670289). Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activity reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur, blocking early-stage virus replication in dendritic and other myeloid cells (PubMed:19525956, PubMed:21613998, PubMed:21720370, PubMed:23602554, PubMed:23601106, PubMed:23364794, PubMed:25038827, PubMed:26101257, PubMed:22056990, PubMed:24336198, PubMed:28229507, PubMed:26294762, PubMed:26431200). Likewise, suppresses LINE-1 retrotransposon activity (PubMed:24035396, PubMed:29610582, PubMed:24217394). Not able to restrict infection by HIV-2 virus; because restriction activity is counteracted by HIV-2 viral protein Vpx (PubMed:21613998, PubMed:21720370). In addition to virus restriction, dNTPase activity acts as a regulator of DNA precursor pools by regulating dNTP pools (PubMed:23858451). Phosphorylation at Thr-592 acts as a switch to control dNTPase-dependent and -independent functions: it inhibits dNTPase activity and ability to restrict infection by viruses, while it promotes DNA end resection at stalled replication forks (PubMed:23602554, PubMed:23601106, PubMed:29610582, PubMed:29670289). Functions during S phase at stalled DNA replication forks to promote the resection of gapped or reversed forks: acts by stimulating the exonuclease activity of MRE11, activating the ATR-CHK1 pathway and allowing the forks to restart replication (PubMed:29670289). Its ability to promote degradation of nascent DNA at stalled replication forks is required to prevent induction of type I interferons, thereby preventing chronic inflammation (PubMed:27477283, PubMed:29670289). Ability to promote DNA end resection at stalled replication forks is independent of dNTPase activity (PubMed:29670289). Enhances immunoglobulin hypermutation in B-lymphocytes by promoting transversion mutation (By similarity).',NULL,NULL,NULL,NULL,NULL),(3278,'UniProt Function',NULL,4142,NULL,'Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the substrate.',NULL,NULL,NULL,NULL,NULL),(3279,'UniProt Function',NULL,4142,NULL,'Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1 gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC 3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases.',NULL,NULL,NULL,NULL,NULL),(3280,'UniProt Function',NULL,4142,NULL,'Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12).',NULL,NULL,NULL,NULL,NULL),(3281,'UniProt Function',NULL,4142,NULL,'Prosaposin: Behaves as a myelinotrophic and neurotrophic factor, these effects are mediated by its G-protein-coupled receptors, GPR37 and GPR37L1, undergoing ligand-mediated internalization followed by ERK phosphorylation signaling.',NULL,NULL,NULL,NULL,NULL),(3282,'UniProt Function',NULL,4142,NULL,'Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases.',NULL,NULL,NULL,NULL,NULL),(3283,'UniProt Function',NULL,4143,NULL,'Acts as a transcriptional coregulator, that can have both coactivator and corepressor functions. Inhibits the DCSTAMP-repressive activity of TAL1, hence enhancing the access of the transcription factor MITF to the DC-STAMP promoter in osteoclast. Plays a role in bone homeostasis; required as a positive regulator in TNFSF11//RANKL-mediated osteoclast fusion via a DCSTAMP-dependent pathway. May also be required in the regulation of osteoblast differentiation (By similarity). Involved in the transcriptional corepression of NF-kappaB in macrophages (PubMed:18025162). Plays a role as a regulator in the proinflammatory cascade (PubMed:18025162).',NULL,NULL,NULL,NULL,NULL),(3284,'UniProt Function',NULL,4144,NULL,'Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Required for the translocation of insulin-induced glucose transporter SLC2A4/GLUT4 to the cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(3285,'UniProt Function',NULL,4145,NULL,'Catalyzes the oxidation of methanethiol, an organosulfur compound known to be produced in substantial amounts by gut bacteria (PubMed:29255262). Selenium-binding protein which may be involved in the sensing of reactive xenobiotics in the cytoplasm. May be involved in intra-Golgi protein transport (By similarity).',NULL,NULL,NULL,NULL,NULL),(3286,'UniProt Function',NULL,4147,NULL,'Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2.',NULL,NULL,NULL,NULL,NULL),(3287,'UniProt Function',NULL,4148,NULL,'May play a role as p53/TP53 inhibitor and thus may have oncogenic activity.',NULL,NULL,NULL,NULL,NULL),(3288,'UniProt Function',NULL,4149,NULL,'May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(3289,'UniProt Function',NULL,4150,NULL,'Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (3\' to 5\') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity.',NULL,NULL,NULL,NULL,NULL),(3290,'UniProt Function',NULL,4150,NULL,'Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.',NULL,NULL,NULL,NULL,NULL),(3291,'UniProt Function',NULL,4150,NULL,'Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.',NULL,NULL,NULL,NULL,NULL),(3292,'UniProt Function',NULL,4150,NULL,'Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. Essential for cell proliferation.',NULL,NULL,NULL,NULL,NULL),(3293,'UniProt Function',NULL,4150,NULL,'May be able to bind plasminogen at cell surface and enhance plasminogen activation.',NULL,NULL,NULL,NULL,NULL),(3294,'UniProt Function',NULL,4151,NULL,'Protects DRG2 from proteolytic degradation.',NULL,NULL,NULL,NULL,NULL),(3295,'UniProt Function',NULL,4152,NULL,'Enhancer of SUMO conjugation. Via its interaction with UBE2I/UBC9, increases SUMO conjugation to proteins by promoting the binding of E1 and E2 enzymes, thioester linkage between SUMO and UBE2I/UBC9 and transfer of SUMO to specific target proteins which include HIF1A, PIAS, NFKBIA, NR3C1 and TOP1. Isoform 1 and isoform 2 positively regulate the NF-kappa-B signaling pathway by enhancing the sumoylation of NF-kappa-B inhibitor alpha (NFKBIA), promoting its stabilization which consequently leads to an increased inhibition of NF-kappa-B transcriptional activity. Isoform 1 and isoform 2 negatively regulate the hypoxia-inducible factor-1 alpha (HIF1A) signaling pathway by increasing the sumoylation of HIF1A, promoting its stabilization, transcriptional activity and the expression of its target gene VEGFA during hypoxia. Isoform 2 promotes the sumoylation and transcriptional activity of the glucocorticoid receptor NR3C1 and enhances the interaction of SUMO1 and NR3C1 with UBE2I/UBC9. Has no effect on ubiquitination.',NULL,NULL,NULL,NULL,NULL),(3296,'UniProt Function',NULL,4153,NULL,'May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes. May also play a role in suppressing tumor cell growth.',NULL,NULL,NULL,NULL,NULL),(3297,'UniProt Function',NULL,4154,NULL,'Binds both calcium and zinc. May be involved in calcium-dependent cuticle cell differentiation, hair shaft and hair cuticular barrier formation.',NULL,NULL,NULL,NULL,NULL),(3298,'UniProt Function',NULL,4155,NULL,'UDP-xylosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:27601598, PubMed:27733679) (Probable). Acts as a UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase, which catalyzes the transfer of UDP-D-xylose to ribitol 5-phosphate (Rbo5P) to form the Xylbeta1-4Rbo5P linkage on O-mannosyl glycan (PubMed:27733679, PubMed:29477842) (Probable).',NULL,NULL,NULL,NULL,NULL),(3299,'UniProt Function',NULL,4159,NULL,'Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm in muscle and thereby plays a role in triggering muscle contraction. May regulate Ca(2+) release by other calcium channels. Calcium channel that mediates Ca(2+)-induced Ca(2+) release from the endoplasmic reticulum in non-muscle cells. Contributes to cellular calcium ion homeostasis (By similarity). Plays a role in cellular calcium signaling.',NULL,NULL,NULL,NULL,NULL),(3300,'UniProt Function',NULL,4160,NULL,'Facilitates the differentiation and the cornification of keratinocytes.',NULL,NULL,NULL,NULL,NULL),(3301,'UniProt Function',NULL,4161,NULL,'May be a thiamine transporter.',NULL,NULL,NULL,NULL,NULL),(3302,'UniProt Function',NULL,4162,NULL,'Mitochondrial glycine transporter that imports glycine into the mitochondrial matrix. Plays an important role in providing glycine for the first enzymatic step in heme biosynthesis, the condensation of glycine with succinyl-CoA to produce 5-aminolevulinate (ALA) in the mitochondrial matrix. Required during erythropoiesis.',NULL,NULL,NULL,NULL,NULL),(3303,'UniProt Function',NULL,4163,NULL,'Exhibits antiviral activity against dengue virus (DENV) and can inhibit the replication of all DENV serotypes. May block the protein translation of DENV RNA via its association with cellular mRNA-binding proteins and viral RNA. Can also limit the replication of hepatitis C virus (HCV), West Nile virus (WNV), Chikungunya virus (CHIKV), herpes simplex virus type 1 (HHV-1) and human adenovirus (PubMed:26735137).',NULL,NULL,NULL,NULL,NULL),(3304,'UniProt Function',NULL,4164,NULL,'May function as calcium sensor and contribute to cellular calcium signaling. In a calcium-dependent manner, functions by interacting with other proteins, such as EZR and PPP5C, and indirectly plays a role in physiological processes like the formation of microvilli in epithelial cells. May stimulate cell proliferation in an autocrine manner via activation of the receptor for activated glycation end products (RAGE).',NULL,NULL,NULL,NULL,NULL),(3305,'UniProt Function',NULL,4165,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(3306,'UniProt Function',NULL,4166,NULL,'Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation.',NULL,NULL,NULL,NULL,NULL),(3307,'UniProt Function',NULL,4167,NULL,'Functions as a sodium-dependent amino acid transporter which countertransport protons. Mediates the saturable, pH-sensitive, and electrogenic cotransport of several neutral amino acids including glycine, asparagine, alanine, serine, glutamine and histidine with sodium.',NULL,NULL,NULL,NULL,NULL),(3308,'UniProt Function',NULL,4168,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(3309,'UniProt Function',NULL,4169,NULL,'Acyl-CoA synthetase probably involved in bile acid metabolism. Proposed to activate C27 precursors of bile acids to their CoA thioesters derivatives before side chain cleavage via peroxisomal beta-oxidation occurs. In vitro, activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol. Does not utilize C24 bile acids as substrates. In vitro, also activates long- and branched-chain fatty acids and may have additional roles in fatty acid metabolism. May be involved in translocation of long-chain fatty acids (LFCA) across membranes (By similarity).',NULL,NULL,NULL,NULL,NULL),(3310,'UniProt Function',NULL,4171,NULL,'Putative sodium-dependent amino acid/proton antiporter.',NULL,NULL,NULL,NULL,NULL),(3311,'UniProt Function',NULL,4173,NULL,'Acyl-CoA synthetase involved in bile acid metabolism. Proposed to catalyze the first step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi by activating them to their CoA thioesters. Seems to activate secondary bile acids entering the liver from the enterohepatic circulation. In vitro, also activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol.',NULL,NULL,NULL,NULL,NULL),(3312,'UniProt Function',NULL,4174,NULL,'Electrogenic sodium/bicarbonate cotransporter in exchange for intracellular chloride. Plays an important role in regulating intracellular pH (By similarity).',NULL,NULL,NULL,NULL,NULL),(3313,'UniProt Function',NULL,4175,NULL,'Acts as a zinc-influx transporter (Potential). May be partly involved in the outbreak of schizophrenia.',NULL,NULL,NULL,NULL,NULL),(3314,'UniProt Function',NULL,4176,NULL,'Putative sodium-dependent amino acid/proton antiporter.',NULL,NULL,NULL,NULL,NULL),(3315,'UniProt Function',NULL,4177,NULL,'Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER). Forms a ribosome receptor and a gated pore in the ER membrane, both functions required for cotranslational translocation of nascent polypeptides (PubMed:22375059, PubMed:28782633, PubMed:29719251). May cooperate with auxiliary protein SEC62, SEC63 and HSPA5/BiP to enable post-translational transport of small presecretory proteins (PubMed:22375059, PubMed:29719251). Controls the passive efflux of calcium ions from the ER lumen to the cytosol through SEC61 channel, contributing to the maintenance of cellular calcium homeostasis (PubMed:28782633). Plays a critical role in nephrogenesis, specifically at pronephros stage (By similarity).',NULL,NULL,NULL,NULL,NULL),(3316,'UniProt Function',NULL,4178,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).',NULL,NULL,NULL,NULL,NULL),(3317,'UniProt Function',NULL,4179,NULL,'Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometry of 2:1. May have a housekeeping function in regulating the pH of tissues in which it is expressed. May play a role in mediating Na(+):HCO3(-) cotransport in hepatocytes and intrahepatic cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH.',NULL,NULL,NULL,NULL,NULL),(3318,'UniProt Function',NULL,4180,NULL,'Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization.',NULL,NULL,NULL,NULL,NULL),(3319,'UniProt Function',NULL,4181,NULL,'Inositol 4-phosphatase which mainly acts on phosphatidylinositol 4-phosphate. May be functionally linked to OCRL, which converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol, for a sequential dephosphorylation of phosphatidylinositol 4,5-bisphosphate at the 5 and 4 position of inositol, thus playing an important role in the endocytic recycling (PubMed:25869669). Regulator of TF:TFRC and integrins recycling pathway, is also involved in cell migration mechanisms (PubMed:25869669). Modulates AKT/GSK3B pathway by decreasing AKT and GSK3B phosphorylation (PubMed:17322895). Negatively regulates STAT3 signaling pathway through inhibition of STAT3 phosphorylation and translocation to the nucleus (PubMed:25476455). Functionally important modulator of cardiac myocyte size and of the cardiac response to stress (By similarity). May play a role as negative regulator of axon regeneration after central nervous system injuries (By similarity).',NULL,NULL,NULL,NULL,NULL),(3320,'UniProt Function',NULL,4182,NULL,'Major acute phase reactant. Apolipoprotein of the HDL complex.',NULL,NULL,NULL,NULL,NULL),(3321,'UniProt Function',NULL,4184,NULL,'Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).',NULL,NULL,NULL,NULL,NULL),(3322,'UniProt Function',NULL,4188,NULL,'Acts as an electrogenic sodium (Na(+)) and chloride (Cl-)-dependent sodium-coupled solute transporter, including transport of monocarboxylates (short-chain fatty acids including L-lactate, D-lactate, pyruvate, acetate, propionate, valerate and butyrate), lactate, mocarboxylate drugs (nicotinate, benzoate, salicylate and 5-aminosalicylate) and ketone bodies (beta-D-hydroxybutyrate, acetoacetate and alpha-ketoisocaproate), with a Na(+):substrate stoichiometry of between 4:1 and 2:1. Catalyzes passive carrier mediated diffusion of iodide. Mediates iodide transport from the thyrocyte into the colloid lumen through the apical membrane. May be responsible for the absorption of D-lactate and monocarboxylate drugs from the intestinal tract. Acts as a tumor suppressor, suppressing colony formation in colon cancer, prostate cancer and glioma cell lines. May play a critical role in the entry of L-lactate and ketone bodies into neurons by a process driven by an electrochemical Na(+) gradient and hence contribute to the maintenance of the energy status and function of neurons.',NULL,NULL,NULL,NULL,NULL),(3323,'UniProt Function',NULL,4189,NULL,'Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone pre-mRNA 3\'-end processing (PubMed:12975319).',NULL,NULL,NULL,NULL,NULL),(3324,'UniProt Function',NULL,4194,NULL,'Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of specific mitochondrial mRNAs (mt-mRNAs), a post-transcriptional modification necessary for their translation. Acts at position 390 in COXI mt-mRNA and at position 697-699 in mitochondrial COXIII mt-mRNA (PubMed:27974379). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and may play a role in mitochondrial ribosome biogenesis (PubMed:27667664).',NULL,NULL,NULL,NULL,NULL),(3325,'UniProt Function',NULL,4195,NULL,'Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of different mitochondrial RNA substrates. Acts on position 1397 in 16S mitochondrial ribosomal RNA (16S mt-rRNA). This modification is required for the assembly of 16S mt-rRNA into a functional mitochondrial ribosome (PubMed:27974379). Acts on position 39 in mitochondrial tRNA(Phe) (PubMed:28082677). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA, controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664).',NULL,NULL,NULL,NULL,NULL),(3326,'UniProt Function',NULL,4196,NULL,'May function as a GTPase-activating protein and may play important roles during T-cell activation.',NULL,NULL,NULL,NULL,NULL),(3327,'UniProt Function',NULL,4197,NULL,'Mediates potential-dependent transport of a variety of organic cations. May play a significant role in the disposition of cationic neurotoxins and neurotransmitters in the brain.',NULL,NULL,NULL,NULL,NULL),(3328,'UniProt Function',NULL,4198,NULL,'Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter.',NULL,NULL,NULL,NULL,NULL),(3329,'UniProt Function',NULL,4199,NULL,'Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. Is coupled to both the G(i/0)alpha and G(12) subclass of heteromeric G-proteins (By similarity). May play a regulatory role in the transformation of radial glial cells into astrocytes and may affect proliferative activity of these cells.',NULL,NULL,NULL,NULL,NULL),(3330,'UniProt Function',NULL,4200,NULL,'Weakly binds calcium but binds zinc very tightly-distinct binding sites with different affinities exist for both ions on each monomer. Physiological concentrations of potassium ion antagonize the binding of both divalent cations, especially affecting high-affinity calcium-binding sites. Binds to and initiates the activation of STK38 by releasing autoinhibitory intramolecular interactions within the kinase. Interaction with AGER after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling. Could assist ATAD3A cytoplasmic processing, preventing aggregation and favoring mitochondrial localization. May mediate calcium-dependent regulation on many physiological processes by interacting with other proteins, such as TPR-containing proteins, and modulating their activity.',NULL,NULL,NULL,NULL,NULL),(3331,'UniProt Function',NULL,4201,NULL,'Mediates sodium-independent multispecific organic anion transport. Transport of prostaglandin E2, prostaglandin F2, tetracycline, bumetanide, estrone sulfate, glutarate, dehydroepiandrosterone sulfate, allopurinol, 5-fluorouracil, paclitaxel, L-ascorbic acid, salicylate, ethotrexate, and alpha-ketoglutarate.',NULL,NULL,NULL,NULL,NULL),(3332,'UniProt Function',NULL,4202,NULL,'May act as a zinc-influx transporter.',NULL,NULL,NULL,NULL,NULL),(3333,'UniProt Function',NULL,4203,NULL,'Uncoupling protein which may catalyze the physiological \'proton leak\' in liver. Overexpression induces the dissipation of mitochondrial membrane potential.',NULL,NULL,NULL,NULL,NULL),(3334,'UniProt Function',NULL,4204,NULL,'Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:19185582, PubMed:18484095, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (PubMed:15286788, PubMed:19185582). Required CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:19185582).',NULL,NULL,NULL,NULL,NULL),(3335,'UniProt Function',NULL,4206,NULL,'Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Thought to function as the predominant fatty acid protein transporter in heart.',NULL,NULL,NULL,NULL,NULL),(3336,'UniProt Function',NULL,4208,NULL,'Exhibits sodium-independent sulfate anion transporter activity that may cooperate with SLC26A2 to mediate DIDS-sensitive sulfate uptake into high endothelial venules endothelial cells (HEVEC).',NULL,NULL,NULL,NULL,NULL),(3337,'UniProt Function',NULL,4209,NULL,'Mediates sulfate transport with high affinity (PubMed:12713736). Mediates oxalate transport (PubMed:12713736). Mediates bicarbonate transport (By similarity). Does not accept succinate as cosubstrate (By similarity).',NULL,NULL,NULL,NULL,NULL),(3338,'UniProt Function',NULL,4210,NULL,'Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals.',NULL,NULL,NULL,NULL,NULL),(3339,'UniProt Function',NULL,4211,NULL,'Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation.',NULL,NULL,NULL,NULL,NULL),(3340,'UniProt Function',NULL,4212,NULL,'Riboflavin transporter. Riboflavin transport is Na(+)-independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).',NULL,NULL,NULL,NULL,NULL),(3341,'UniProt Function',NULL,4213,NULL,'Involved in centrosome duplication and mitotic progression.',NULL,NULL,NULL,NULL,NULL),(3342,'UniProt Function',NULL,4214,NULL,'Adenosylhomocysteine is a competitive inhibitor of S-adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine.',NULL,NULL,NULL,NULL,NULL),(3343,'UniProt Function',NULL,4215,NULL,'Negative regulator of store-operated Ca(2+) entry (SOCE) involved in protecting cells from Ca(2+) overfilling. In response to cytosolic Ca(2+) elevation after endoplasmic reticulum Ca(2+) refilling, promotes a slow inactivation of STIM (STIM1 or STIM2)-dependent SOCE activity: possibly act by facilitating the deoligomerization of STIM to efficiently turn off ORAI when the endoplasmic reticulum lumen is filled with the appropriate Ca(2+) levels, and thus preventing the overload of the cell with excessive Ca(2+) ions.',NULL,NULL,NULL,NULL,NULL),(3344,'UniProt Function',NULL,4216,NULL,'Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex.',NULL,NULL,NULL,NULL,NULL),(3345,'UniProt Function',NULL,4217,NULL,'Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors (PubMed:29769720). Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway. Has a essential roles in ovary determination. Regulates Wnt signaling by antagonizing DKK1/KREM1-mediated internalization of LRP6 through an interaction with KREM1 (PubMed:17804805).',NULL,NULL,NULL,NULL,NULL),(3346,'UniProt Function',NULL,4218,NULL,'Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway (PubMed:21727895, PubMed:21909076, PubMed:22615920). Acts as a key regulator of angiogenesis by controlling vascular stability and pruning: acts by activating the non-canonical Wnt signaling pathway in endothelial cells (By similarity) (PubMed:21727895, PubMed:21909076, PubMed:22615920). Can also amplify Wnt signaling pathway independently of LGR4-6 receptors, possibly by acting as a direct antagonistic ligand to RNF43 and ZNRF3 (PubMed:29769720).',NULL,NULL,NULL,NULL,NULL),(3347,'UniProt Function',NULL,4220,NULL,'Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription.',NULL,NULL,NULL,NULL,NULL),(3348,'UniProt Function',NULL,4222,NULL,'Receptor for relaxins. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. Binding of the ligand may also activate a tyrosine kinase pathway that inhibits the activity of a phosphodiesterase that degrades cAMP.',NULL,NULL,NULL,NULL,NULL),(3349,'UniProt Function',NULL,4223,NULL,'Receptor for relaxin. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. May also be a receptor for Leydig insulin-like peptide (INSL3).',NULL,NULL,NULL,NULL,NULL),(3350,'UniProt Function',NULL,4225,NULL,'May play a role in innate immunity by inhibiting the antiviral RIG-I signaling pathway. In this pathway, functions as a negative regulator of DDX58/RIG-I, the cytoplasmic sensor of viral nucleic acids. Prevents the interaction of DDX58 with MAVS/IPS1, an important step in signal propagation (PubMed:23843640). May also regulate the SLC18A3 and SLC5A7 cholinergic transporters (PubMed:17092608).',NULL,NULL,NULL,NULL,NULL),(3351,'UniProt Function',NULL,4226,NULL,'Translocates a broad array of organic cations with various structures and molecular weights including the model compounds 1-methyl-4-phenylpyridinium (MPP), tetraethylammonium (TEA), N-1-methylnicotinamide (NMN), 4-(4-(dimethylamino)styryl)-N-methylpyridinium (ASP), the endogenous compounds choline, guanidine, histamine, epinephrine, adrenaline, noradrenaline and dopamine, and the drugs quinine, and metformin. The transport of organic cations is inhibited by a broad array of compounds like tetramethylammonium (TMA), cocaine, lidocaine, NMDA receptor antagonists, atropine, prazosin, cimetidine, TEA and NMN, guanidine, cimetidine, choline, procainamide, quinine, tetrabutylammonium, and tetrapentylammonium. Translocates organic cations in an electrogenic and pH-independent manner. Translocates organic cations across the plasma membrane in both directions. Transports the polyamines spermine and spermidine. Transports pramipexole across the basolateral membrane of the proximal tubular epithelial cells. The choline transport is activated by MMTS. Regulated by various intracellular signaling pathways including inhibition by protein kinase A activation, and endogenously activation by the calmodulin complex, the calmodulin-dependent kinase II and LCK tyrosine kinase.',NULL,NULL,NULL,NULL,NULL),(3352,'UniProt Function',NULL,4227,NULL,'Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development.',NULL,NULL,NULL,NULL,NULL),(3353,'UniProt Function',NULL,4230,NULL,'Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5\'-AGGTCA-3\' sites known as DR1-DR5. The high affinity ligand for RXRs is 9-cis retinoic acid (By similarity).',NULL,NULL,NULL,NULL,NULL),(3354,'UniProt Function',NULL,4231,NULL,'Proton oligopeptide cotransporter.',NULL,NULL,NULL,NULL,NULL),(3355,'UniProt Function',NULL,4232,NULL,'Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3\',5\'-diphosphate.',NULL,NULL,NULL,NULL,NULL),(3356,'UniProt Function',NULL,4234,NULL,'Putative solute transporter.',NULL,NULL,NULL,NULL,NULL),(3357,'UniProt Function',NULL,4235,NULL,'Sodium-dependent amino acid/proton antiporter. Mediates electrogenic cotransport of glutamine and sodium ions in exchange for protons. Also recognizes histidine, asparagine and alanine. May mediate amino acid transport in either direction under physiological conditions. May play a role in nitrogen metabolism and synaptic transmission.',NULL,NULL,NULL,NULL,NULL),(3358,'UniProt Function',NULL,4236,NULL,'May play an important role in the cellular response to tissue hypoxia. May be either a GDP-fucose transporter that competes with SLC35C1 for GDP-fucose, or a factor that otherwise enhances the fucosylation of Notch and is required for optimal Notch signaling in mammalian cells.',NULL,NULL,NULL,NULL,NULL),(3359,'UniProt Function',NULL,4237,NULL,'Mediates sodium-dependent transport of amino acids, preferentially L-glutamine.',NULL,NULL,NULL,NULL,NULL),(3360,'UniProt Function',NULL,4238,NULL,'Cotransport of sodium ions and dicarboxylates such as succinate and citrate.',NULL,NULL,NULL,NULL,NULL),(3361,'UniProt Function',NULL,4240,NULL,'Does not show neutral amino acid transporter activity.',NULL,NULL,NULL,NULL,NULL),(3362,'UniProt Function',NULL,4242,NULL,'Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids. Involved in the transport of glycine.',NULL,NULL,NULL,NULL,NULL),(3363,'UniProt Function',NULL,4243,NULL,'Chloride/bicarbonate exchanger.',NULL,NULL,NULL,NULL,NULL),(3364,'UniProt Function',NULL,4244,NULL,'Acts as a magnesium transporter that is responsive to magnesium balance.',NULL,NULL,NULL,NULL,NULL),(3365,'UniProt Function',NULL,4245,NULL,'Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of glutamine and sodium ions with a stoichiometry of 1:1. May also transport small zwitterionic and aliphatic amino acids with a lower affinity. May supply glutamatergic and GABAergic neurons with glutamine which is required for the synthesis of the neurotransmitters glutamate and GABA.',NULL,NULL,NULL,NULL,NULL),(3366,'UniProt Function',NULL,4248,NULL,'May be involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells.',NULL,NULL,NULL,NULL,NULL),(3367,'UniProt Function',NULL,4249,NULL,'Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5\' splice-site and the subsequent assembly of the spliceosome (PubMed:19325628, PubMed:25555158). SNRNP70 binds to the loop I region of U1-snRNA (PubMed:2467746, PubMed:19325628, PubMed:25555158).',NULL,NULL,NULL,NULL,NULL),(3368,'UniProt Function',NULL,4249,NULL,'Isoform 3: Truncated isoforms that lack the RRM domain cannot bind U1-snRNA.',NULL,NULL,NULL,NULL,NULL),(3369,'UniProt Function',NULL,4249,NULL,'Isoform 4: Truncated isoforms that lack the RRM domain cannot bind U1-snRNA.',NULL,NULL,NULL,NULL,NULL),(3370,'UniProt Function',NULL,4250,NULL,'Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5\'-TGTGGT-3\', or very rarely, 5\'-TGCGGT-3\', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters (Probable). Essential for the development of normal hematopoiesis (PubMed:17431401). Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter (PubMed:10207087, PubMed:14970218). Inhibits KAT6B-dependent transcriptional activation (By similarity). Involved in lineage commitment of immature T cell precursors. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (By similarity). Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down-regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells (PubMed:17377532). Positively regulates the expression of RORC in T-helper 17 cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(3371,'UniProt Function',NULL,4250,NULL,'Isoform AML-1G shows higher binding activities for target genes and binds TCR-beta-E2 and RAG-1 target site with threefold higher affinity than other isoforms. It is less effective in the context of neutrophil terminal differentiation.',NULL,NULL,NULL,NULL,NULL),(3372,'UniProt Function',NULL,4250,NULL,'Isoform AML-1L interferes with the transactivation activity of RUNX1.',NULL,NULL,NULL,NULL,NULL),(3373,'UniProt Function',NULL,4251,NULL,'Specifically promotes functional cell surface expression of olfactory receptors, but not of other GPCRs.',NULL,NULL,NULL,NULL,NULL),(3374,'UniProt Function',NULL,4252,NULL,'Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P) (PubMed:10617617). S1P is a bioactive lysophospholipid that elicits diverse physiological effects on most types of cells and tissues (PubMed:10617617). When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis (PubMed:10617617). Receptor for the chemokine-like protein FAM19A5 (PubMed:29453251). Mediates the inhibitory effect of FAM19A5 on vascular smooth muscle cell proliferation and migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(3375,'UniProt Function',NULL,4253,NULL,'May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney.',NULL,NULL,NULL,NULL,NULL),(3376,'UniProt Function',NULL,4254,NULL,'Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. May be involved in cell migration processes that are specific for lymphocytes.',NULL,NULL,NULL,NULL,NULL),(3377,'UniProt Function',NULL,4255,NULL,'Involved in the maintenance of mitochondrial membrane potential in pancreatic ductal adenocarcinoma (PDAC) cells. Promotes pancreatic ductal adenocarcinoma (PDAC) cell growth. May play a role as a nucleotide-sugar transporter.',NULL,NULL,NULL,NULL,NULL),(3378,'UniProt Function',NULL,4256,NULL,'May act as a zinc-influx transporter.',NULL,NULL,NULL,NULL,NULL),(3379,'UniProt Function',NULL,4257,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(3380,'UniProt Function',NULL,4258,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(3381,'UniProt Function',NULL,4259,NULL,'Antiporter transporting nucleotide sugars such as UDP-N-acetylglucosamine (UDP-GlcNAc), UDP-glucose (UDP-Glc) and GDP-mannose (GDP-Man) pooled in the cytosol into the lumen of the Golgi in exchange for the corresponding nucleosides monophosphates (UMP for UDP-sugars and GMP for GDP-sugars). May take part in heparan sulfate synthesis by supplying UDP-Glc-NAc, the donor substrate, and thus be involved in growth factor signaling.',NULL,NULL,NULL,NULL,NULL),(3382,'UniProt Function',NULL,4260,NULL,'May act as a zinc-influx transporter.',NULL,NULL,NULL,NULL,NULL),(3383,'UniProt Function',NULL,4261,NULL,'May play a role in mitochondrial dynamics by controlling mitochondrial membrane fission.',NULL,NULL,NULL,NULL,NULL),(3384,'UniProt Function',NULL,4262,NULL,'Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Required for the appropriate processing of intermediate recombination nodules before crossover formation.',NULL,NULL,NULL,NULL,NULL),(3385,'UniProt Function',NULL,4263,NULL,'Proton-associated glucose transporter in the brain.',NULL,NULL,NULL,NULL,NULL),(3386,'UniProt Function',NULL,4264,NULL,'Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization. It could be a potential receptor for the egg oligosaccharide residue N-acetylglucosamine, which is present in the extracellular matrix over the egg plasma membrane. The processed form has no detectable bacteriolytic activity in vitro.',NULL,NULL,NULL,NULL,NULL),(3387,'UniProt Function',NULL,4266,NULL,'Major acute phase protein.',NULL,NULL,NULL,NULL,NULL),(3388,'UniProt Function',NULL,4267,NULL,'Binds to scaffold/matrix attachment region (S/MAR) DNA. Can function as an estrogen receptor corepressor and can also inhibit cell proliferation.',NULL,NULL,NULL,NULL,NULL),(3389,'UniProt Function',NULL,4269,NULL,'Functions as a sodium-dependent vesicular transporter selective for proline, glycine, leucine and alanine. In contrast to other members of this neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity).',NULL,NULL,NULL,NULL,NULL),(3390,'UniProt Function',NULL,4270,NULL,'Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5\'-ends.',NULL,NULL,NULL,NULL,NULL),(3391,'UniProt Function',NULL,4272,NULL,'Transcription factor that binds to the DNA sequence 5\'-CANNTG-3\'(E box) and the G-box motif. May play an important role in the regulation of cell proliferation and differentiation during spermatogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(3392,'UniProt Function',NULL,4274,NULL,'SRF is a transcription factor that binds to the serum response element (SRE), a short sequence of dyad symmetry located 300 bp to the 5\' of the site of transcription initiation of some genes (such as FOS). Together with MRTFA transcription coactivator, controls expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. Required for cardiac differentiation and maturation.',NULL,NULL,NULL,NULL,NULL),(3393,'UniProt Function',NULL,4275,NULL,'RAC1 GTPase activating protein (GAP) that binds and deforms membranes, and regulates actin dynamics to regulate cell migration and differentiation. Plays an important role in different aspects of neuronal morphogenesis and migration mainly during development of the cerebral cortex. This includes the biogenesis of neurites, where it is required for both axons and dendrites outgrowth, and the maturation of the dendritic spines. Also stimulates the branching of the leading process and negatively regulates neuron radial migration in the cerebral cortex. Its interaction and inhibition by SRGAP2C reduces the rate of spine maturation, alters dendritic spine morphology and density and indirectly increases neuronal migration. It may have implications for cognition, learning and memory. In non-neuronal cells, it may also play a role in cell migration by regulating the formation of lamellipodia and filopodia.',NULL,NULL,NULL,NULL,NULL),(3394,'UniProt Function',NULL,4276,NULL,'Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP. The complex of SRP9 and SRP14 is required for SRP RNA binding.',NULL,NULL,NULL,NULL,NULL),(3395,'UniProt Function',NULL,4277,NULL,'Signal-recognition-particle assembly, binds directly to 7S RNA and mediates binding of the 54 kDa subunit of the SRP.',NULL,NULL,NULL,NULL,NULL),(3396,'UniProt Function',NULL,4278,NULL,'Located at the top of the head of the 40S subunit, it contacts several helices of the 18S rRNA.',NULL,NULL,NULL,NULL,NULL),(3397,'UniProt Function',NULL,4279,NULL,'Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. Binds the 7S RNA only in presence of SRP68. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function.',NULL,NULL,NULL,NULL,NULL),(3398,'UniProt Function',NULL,4280,NULL,'Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Promotes neuronal apoptosis by up-regulating cyclin-D1 (CCND1) expression. This is done by the phosphorylation of SRSF2, leading to the suppression of p53/TP53 phosphorylation thereby relieving the repressive effect of p53/TP53 on cyclin-D1 (CCND1) expression. Phosphorylates ACIN1, and redistributes it from the nuclear speckles to the nucleoplasm, resulting in cyclin A1 but not cyclin A2 up-regulation. Plays an essential role in spliceosomal B complex formation via the phosphorylation of DDX23/PRP28. Can mediate hepatitis B virus (HBV) core protein phosphorylation. Plays a negative role in the regulation of HBV replication through a mechanism not involving the phosphorylation of the core protein but by reducing the packaging efficiency of the pregenomic RNA (pgRNA) without affecting the formation of the viral core particles.',NULL,NULL,NULL,NULL,NULL),(3399,'UniProt Function',NULL,4281,NULL,'Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains. Phosphorylates the SR splicing factor SRSF1 and the lamin-B receptor (LBR) in vitro. Required for normal muscle development (By similarity).',NULL,NULL,NULL,NULL,NULL),(3400,'UniProt Function',NULL,4282,NULL,'Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system. Has GTPase activity. May mediate the membrane association of SRPR (By similarity).',NULL,NULL,NULL,NULL,NULL),(3401,'UniProt Function',NULL,4283,NULL,'Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases the phosphorylation levels of FAK. Interacts with and increases the mitogenic activity of HGF. Promotes synapse formation. May have a role in the perisylvian region, critical for language and cognitive development.',NULL,NULL,NULL,NULL,NULL),(3402,'UniProt Function',NULL,4284,NULL,'Involved in pre-mRNA splicing. May function at or prior to the first catalytic step of splicing at the catalytic center of the spliceosome. May do so by stabilizing the catalytic center or the position of the RNA substrate (By similarity). Binds to RNA.',NULL,NULL,NULL,NULL,NULL),(3403,'UniProt Function',NULL,4285,NULL,'Acts as a mediator between the cap-binding complex (CBC) and the primary microRNAs (miRNAs) processing machinery during cell proliferation. Contributes to the stability and delivery of capped primary miRNA transcripts to the primary miRNA processing complex containing DGCR8 and DROSHA, thereby playing a role in RNA-mediated gene silencing (RNAi) by miRNAs. Binds capped RNAs (m7GpppG-capped RNA); however interaction is probably mediated via its interaction with NCBP1/CBP80 component of the CBC complex. Involved in cell cycle progression at S phase. Does not directly confer arsenite resistance but rather modulates arsenic sensitivity. Independently of its activity on miRNAs, necessary and sufficient to promote neural stem cell self-renewal. Does so by directly binding SOX2 promoter and positively regulating its transcription (By similarity).',NULL,NULL,NULL,NULL,NULL),(3404,'UniProt Function',NULL,4286,NULL,'Catalyzes the synthesis of D-serine from L-serine. D-serine is a key coagonist with glutamate at NMDA receptors. Has dehydratase activity towards both L-serine and D-serine.',NULL,NULL,NULL,NULL,NULL),(3405,'UniProt Function',NULL,4287,NULL,'Splicing factor that in its dephosphorylated form acts as a general repressor of pre-mRNA splicing (PubMed:11684676, PubMed:12419250, PubMed:14765198). Seems to interfere with the U1 snRNP 5\'-splice recognition of SNRNP70 (PubMed:14765198). Required for splicing repression in M-phase cells and after heat shock (PubMed:14765198). Also acts as a splicing factor that specifically promotes exon skipping during alternative splicing (PubMed:26876937). Interaction with YTHDC1, a RNA-binding protein that recognizes and binds N6-methyladenosine (m6A)-containing RNAs, prevents SRSF10 from binding to its mRNA-binding sites close to m6A-containing regions, leading to inhibit exon skipping during alternative splicing (PubMed:26876937). May be involved in regulation of alternative splicing in neurons, with isoform 1 acting as a positive and isoform 3 as a negative regulator (PubMed:12419250).',NULL,NULL,NULL,NULL,NULL),(3406,'UniProt Function',NULL,4288,NULL,'May function in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(3407,'UniProt Function',NULL,4289,NULL,'Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK activation by a constitutively active mutant Ras. Probably impairs the formation of GTP-Ras. Inhibits Ras-independent, but not Ras-dependent, activation of RAF1.',NULL,NULL,NULL,NULL,NULL),(3408,'UniProt Function',NULL,4290,NULL,'Catalyzes the oxidation of hydrogen sulfide with the help of a quinone, such as ubiquinone, giving rise to thiosulfate and ultimately to sulfane (molecular sulfur) atoms. Requires an additional electron acceptor; can use sulfite, sulfide or cyanide (in vitro).',NULL,NULL,NULL,NULL,NULL),(3409,'UniProt Function',NULL,4291,NULL,'Functional RNA which acts as a transcriptional coactivator that selectively enhances steroid receptor-mediated transactivation ligand-independently through a mechanism involving the modulating N-terminal domain (AF-1) of steroid receptors. Also mediates transcriptional coactivation of steroid receptors ligand-dependently through the steroid-binding domain (AF-2). Enhances cellular proliferation and differentiation and promotes apoptosis in vivo. May play a role in tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(3410,'UniProt Function',NULL,4292,NULL,'Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the cholesterol and to a lesser degree the fatty acid synthesis pathway (By similarity). Binds the sterol regulatory element 1 (SRE-1) (5\'-ATCACCCCAC-3\') found in the flanking region of the LDRL and HMG-CoA synthase genes.',NULL,NULL,NULL,NULL,NULL),(3411,'UniProt Function',NULL,4293,NULL,'Contributes to the organization of the actin cytoskeleton and cell shape (PubMed:21296879). Plays a role in the formation of lamellipodia and in cell migration. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Through its interaction with CTTNBP2, involved in the regulation of neuronal spine density (By similarity). Plays a role in the invasiveness of cancer cells, and the formation of metastases (PubMed:16636290). Plays a role in focal adhesion assembly and turnover (By similarity). In complex with ABL1 and MYLK regulates cortical actin-based cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated endothelial cell (EC) barrier enhancement (PubMed:20861316). Plays a role in intracellular protein transport and endocytosis, and in modulating the levels of potassium channels present at the cell membrane (PubMed:17959782). Plays a role in receptor-mediated endocytosis via clathrin-coated pits (By similarity). Required for stabilization of KCNH1 channels at the cell membrane (PubMed:23144454).',NULL,NULL,NULL,NULL,NULL),(3412,'UniProt Function',NULL,4294,NULL,'May be involved in the regulation of calcium transport.',NULL,NULL,NULL,NULL,NULL),(3413,'UniProt Function',NULL,4295,NULL,'Participates in the regulation of alternative splicing by modulating the activity of other splice facors. Inhibits the splicing activity of SFRS1, SFRS2 and SFRS6. Augments the splicing activity of SFRS3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(3414,'UniProt Function',NULL,4297,NULL,'May regulate cell migration and differentiation through interaction with and inhibition of SRGAP2.',NULL,NULL,NULL,NULL,NULL),(3415,'UniProt Function',NULL,4298,NULL,'Involved in dendritic spine maturation through interaction with and inhibition of SRGAP2. Reduces the rate of spine maturation and indirectly increases neuronal migration. Changes dendritic spine morphology and density and may have implications for cognition, learning and memory.',NULL,NULL,NULL,NULL,NULL),(3416,'UniProt Function',NULL,4299,NULL,'Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process.',NULL,NULL,NULL,NULL,NULL),(3417,'UniProt Function',NULL,4300,NULL,'Plays a role in formation of mast cell secretory granules and mediates storage of various compounds in secretory vesicles. Required for storage of some proteases in both connective tissue and mucosal mast cells and for storage of granzyme B in T-lymphocytes. Plays a role in localizing neutrophil elastase in azurophil granules of neutrophils. Mediates processing of MMP2. Plays a role in cytotoxic cell granule-mediated apoptosis by forming a complex with granzyme B which is delivered to cells by perforin to induce apoptosis. Regulates the secretion of TNF-alpha and may also regulate protease secretion. Inhibits bone mineralization.',NULL,NULL,NULL,NULL,NULL),(3418,'UniProt Function',NULL,4301,NULL,'GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons.',NULL,NULL,NULL,NULL,NULL),(3419,'UniProt Function',NULL,4302,NULL,'Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP. The complex of SRP9 and SRP14 is required for SRP RNA binding.',NULL,NULL,NULL,NULL,NULL),(3420,'UniProt Function',NULL,4303,NULL,'Splicing factor that seems to antagonize SR proteins in pre-mRNA splicing regulation.',NULL,NULL,NULL,NULL,NULL),(3421,'UniProt Function',NULL,4304,NULL,'Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5\'- and 3\'-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre-mRNA. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5\'- and 3\'-splice site binding components, U1 snRNP and U2AF. Binds to purine-rich RNA sequences, either 5\'-AGSAGAGTA-3\' (S=C or G) or 5\'-GTTCGAGTA-3\'. Can bind to beta-globin mRNA and commit it to the splicing pathway. The phosphorylated form (by SRPK2) is required for cellular apoptosis in response to cisplatin treatment.',NULL,NULL,NULL,NULL,NULL),(3422,'UniProt Function',NULL,4305,NULL,'Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5\'-ends. Also a component of RNase MRP. This subunit binds to RNA.',NULL,NULL,NULL,NULL,NULL),(3423,'UniProt Function',NULL,4307,NULL,'Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.',NULL,NULL,NULL,NULL,NULL),(3424,'UniProt Function',NULL,4308,NULL,'Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments (By similarity). Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin (PubMed:23542155). Recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments: promotes random chromatin interactions that span the boundaries of existing structures, leading to create a compartment-less architecture typical of inactivated chromosome X (By similarity). Required to facilitate Xist RNA spreading (By similarity). Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus (PubMed:23143600). Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation (PubMed:29748383). Also plays a role in DNA repair: localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks (PubMed:25294876, PubMed:24790221). Acts by promoting non-homologous end joining (NHEJ) and inhibiting homologous recombination (HR) repair (PubMed:25294876).',NULL,NULL,NULL,NULL,NULL),(3425,'UniProt Function',NULL,4310,NULL,'Positively regulates DNA damage-induced apoptosis by acting as a transcriptional coactivator of proapoptotic target genes of the transcriptional activator E2F1 (PubMed:20040599). Likely to play a role in ribosome biogenesis by targeting serine/threonine protein phosphatase PP1 to the nucleolus (PubMed:20926688). Involved in regulation of mRNA splicing (By similarity). Inhibits SIPA1 GTPase activity (By similarity). Involved in regulating expression of extracellular matrix genes (By similarity). Associates with chromatin and may play a role in modulating chromatin structure (PubMed:19710015).',NULL,NULL,NULL,NULL,NULL),(3426,'UniProt Function',NULL,4310,NULL,'(Microbial infection) Following influenza A virus (IAV) infection, promotes viral mRNA transcription by facilitating the binding of IAV RNA-directed RNA polymerase to capped mRNA.',NULL,NULL,NULL,NULL,NULL),(3427,'UniProt Function',NULL,4311,NULL,'Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain.',NULL,NULL,NULL,NULL,NULL),(3428,'UniProt Function',NULL,4312,NULL,'Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium.',NULL,NULL,NULL,NULL,NULL),(3429,'UniProt Function',NULL,4313,NULL,'Autophagy receptor required for selective macroautophagy (aggrephagy). Functions as a bridge between polyubiquitinated cargo and autophagosomes. Interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family (PubMed:16286508, PubMed:20168092, PubMed:24128730, PubMed:28404643, PubMed:22622177). Along with WDFY3, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with WDFY3, required to recruit ubiquitinated proteins to PML bodies in the nucleus (PubMed:24128730, PubMed:20168092). May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate signaling cascades through ubiquitination. Adapter that mediates the interaction between TRAF6 and CYLD (By similarity). May be involved in cell differentiation, apoptosis, immune response and regulation of K(+) channels. Involved in endosome organization by retaining vesicles in the perinuclear cloud: following ubiquitination by RNF26, attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102).',NULL,NULL,NULL,NULL,NULL),(3430,'UniProt Function',NULL,4314,NULL,'Plays a role in alternative splice site selection during pre-mRNA splicing. Represses the splicing of MAPT/Tau exon 10.',NULL,NULL,NULL,NULL,NULL),(3431,'UniProt Function',NULL,4315,NULL,'Required for pre-mRNA splicing. Can also modulate alternative splicing in vitro. Represses the splicing of MAPT/Tau exon 10. May function as export adapter involved in mRNA nuclear export such as of histone H2A. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA-binding activity. RNA-binding is semi-sequence specific.',NULL,NULL,NULL,NULL,NULL),(3432,'UniProt Function',NULL,4319,NULL,'Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament (PubMed:21620703). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (By similarity). Required for asymmetric spindle positioning and asymmetric cell division during meiosis (PubMed:21620703). Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis (PubMed:21620703). Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480).',NULL,NULL,NULL,NULL,NULL),(3433,'UniProt Function',NULL,4320,NULL,'Inhibitor of HGF activator. Also acts as an inhibitor of matriptase (ST14).',NULL,NULL,NULL,NULL,NULL),(3434,'UniProt Function',NULL,4321,NULL,'Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa.',NULL,NULL,NULL,NULL,NULL),(3435,'UniProt Function',NULL,4323,NULL,'Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3\' overhang double-stranded RNA with a 3\'-to-5\' directionality in an ATP-dependent manner. ATPase and ATP-dependent multisubstrate helicase, able to unwind double-stranded (ds) DNA and RNA, and RNA/DNA heteroduplexes in the 5\'-to-3\' direction. Plays a role in the RNA surveillance system in mitochondria; regulates the stability of mature mRNAs, the removal of aberrantly formed mRNAs and the rapid degradation of non coding processing intermediates. Also implicated in recombination and chromatin maintenance pathways. May protect cells from apoptosis. Associates with mitochondrial DNA.',NULL,NULL,NULL,NULL,NULL),(3436,'UniProt Function',NULL,4325,NULL,'Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination.',NULL,NULL,NULL,NULL,NULL),(3437,'UniProt Function',NULL,4326,NULL,'Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which, independently of RAS, transduces signals from tyrosine kinase receptors to RAC. It also mediates signaling of membrane ruffling. Regulates the actin cytoskeleton as an effector or adapter protein in response to agonist stimulated phosphatidylinositol (3,4)-bisphosphate production and cell protrusion (By similarity).',NULL,NULL,NULL,NULL,NULL),(3438,'UniProt Function',NULL,4327,NULL,'Required for rRNA maturation.',NULL,NULL,NULL,NULL,NULL),(3439,'UniProt Function',NULL,4328,NULL,'Potent inhibitor of cellular proliferation.',NULL,NULL,NULL,NULL,NULL),(3440,'UniProt Function',NULL,4329,NULL,'Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules.',NULL,NULL,NULL,NULL,NULL),(3441,'UniProt Function',NULL,4330,NULL,'Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament (PubMed:11747823, PubMed:21620703). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (PubMed:11747823). Required for asymmetric spindle positioning and asymmetric cell division during meiosis (PubMed:21620703). Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis (PubMed:21620703). Also acts in the nucleus: together with FMN2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480).',NULL,NULL,NULL,NULL,NULL),(3442,'UniProt Function',NULL,4332,NULL,'Histone methyltransferase that specifically trimethylates \'Lys-9\' of histone H3 using monomethylated H3 \'Lys-9\' as substrate. Also weakly methylates histone H1 (in vitro). H3 \'Lys-9\' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 \'Lys-9\' trimethylation is also required to direct DNA methylation at pericentric repeats. SUV39H1 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as repression of MYOD1-stimulated differentiation, regulation of the control switch for exiting the cell cycle and entering differentiation, repression by the PML-RARA fusion protein, BMP-induced repression, repression of switch recombination to IgA and regulation of telomere length. Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at \'Lys-9\' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. Recruited by the large PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1, contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 \'Lys-9\' trimethylation.',NULL,NULL,NULL,NULL,NULL),(3443,'UniProt Function',NULL,4333,NULL,'ATPase which is preferentially stimulated by single-stranded DNA and is involved in homologous recombination repair (HRR). Has a DNA-binding activity which is independent of its ATPase activity.',NULL,NULL,NULL,NULL,NULL),(3444,'UniProt Function',NULL,4334,NULL,'May be involved in porphyrin cofactor biosynthesis.',NULL,NULL,NULL,NULL,NULL),(3445,'UniProt Function',NULL,4335,NULL,'May facilitate the release of atrial natriuretic peptide by cardiomyocytes and hence play a role in the regulation of arterial pressure.',NULL,NULL,NULL,NULL,NULL),(3446,'UniProt Function',NULL,4336,NULL,'Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5\'-ends.',NULL,NULL,NULL,NULL,NULL),(3447,'UniProt Function',NULL,4337,NULL,'Interferon-inducible iron-sulfur (4FE-4S) cluster-binding antiviral protein which plays a major role in the cell antiviral state induced by type I and type II interferon. Can inhibit a wide range of DNA and RNA viruses, including human cytomegalovirus (HCMV), hepatitis C virus (HCV), west Nile virus (WNV), dengue virus, sindbis virus, influenza A virus, sendai virus, vesicular stomatitis virus (VSV), and human immunodeficiency virus (HIV-1). Displays antiviral activity against influenza A virus by inhibiting the budding of the virus from the plasma membrane by disturbing the lipid rafts. This is accomplished, at least in part, through binding and inhibition of the enzyme farnesyl diphosphate synthase (FPPS), which is essential for the biosynthesis of isoprenoid-derived lipids. Promotes TLR7 and TLR9-dependent production of IFN-beta production in plasmacytoid dendritic cells (pDCs) by facilitating Lys-63\'-linked ubiquitination of IRAK1. Plays a role in CD4+ T-cells activation and differentiation. Facilitates T-cell receptor (TCR)-mediated GATA3 activation and optimal T-helper 2 (Th2) cytokine production by modulating NFKB1 and JUNB activities. Can inhibit secretion of soluble proteins.',NULL,NULL,NULL,NULL,NULL),(3448,'UniProt Function',NULL,4338,NULL,'Plays a role in pre-mRNA splicing. Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3\' splice site during the second step of splicing.',NULL,NULL,NULL,NULL,NULL),(3449,'UniProt Function',NULL,4341,NULL,'Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cellular enzymes, transcription factors, neuronal excitability, cell growth, proliferation, survival, migration and apoptosis. Plays an important role in cellular stress response. Contributes to regulation of renal Na(+) retention, renal K(+) elimination, salt appetite, gastric acid secretion, intestinal Na(+)/H(+) exchange and nutrient transport, insulin-dependent salt sensitivity of blood pressure, salt sensitivity of peripheral glucose uptake, cardiac repolarization and memory consolidation. Up-regulates Na(+) channels: SCNN1A/ENAC, SCN5A and ASIC1/ACCN2, K(+) channels: KCNJ1/ROMK1, KCNA1-5, KCNQ1-5 and KCNE1, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channels: BSND, CLCN2 and CFTR, glutamate transporters: SLC1A3/EAAT1, SLC1A2 /EAAT2, SLC1A1/EAAT3, SLC1A6/EAAT4 and SLC1A7/EAAT5, amino acid transporters: SLC1A5/ASCT2, SLC38A1/SN1 and SLC6A19, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, glutamate receptor: GRIK2/GLUR6. Up-regulates carriers: SLC9A3/NHE3, SLC12A1/NKCC2, SLC12A3/NCC, SLC5A3/SMIT, SLC2A1/GLUT1, SLC5A1/SGLT1 and SLC15A2/PEPT2. Regulates enzymes: GSK3A/B, PMM2 and Na(+)/K(+) ATPase, and transcription factors: CTNNB1 and nuclear factor NF-kappa-B. Stimulates sodium transport into epithelial cells by enhancing the stability and expression of SCNN1A/ENAC. This is achieved by phosphorylating the NEDD4L ubiquitin E3 ligase, promoting its interaction with 14-3-3 proteins, thereby preventing it from binding to SCNN1A/ENAC and targeting it for degradation. Regulates store-operated Ca(+2) entry (SOCE) by stimulating ORAI1 and STIM1. Regulates KCNJ1/ROMK1 directly via its phosphorylation or indirectly via increased interaction with SLC9A3R2/NHERF2. Phosphorylates MDM2 and activates MDM2-dependent ubiquitination of p53/TP53. Phosphorylates MAPT/TAU and mediates microtubule depolymerization and neurite formation in hippocampal neurons. Phosphorylates SLC2A4/GLUT4 and up-regulates its activity. Phosphorylates APBB1/FE65 and promotes its localization to the nucleus. Phosphorylates MAPK1/ERK2 and activates it by enhancing its interaction with MAP2K1/MEK1 and MAP2K2/MEK2. Phosphorylates FBXW7 and plays an inhibitory role in the NOTCH1 signaling. Phosphorylates FOXO1 resulting in its relocalization from the nucleus to the cytoplasm. Phosphorylates FOXO3, promoting its exit from the nucleus and interference with FOXO3-dependent transcription. Phosphorylates BRAF and MAP3K3/MEKK3 and inhibits their activity. Phosphorylates SLC9A3/NHE3 in response to dexamethasone, resulting in its activation and increased localization at the cell membrane. Phosphorylates CREB1. Necessary for vascular remodeling during angiogenesis. Sustained high levels and activity may contribute to conditions such as hypertension and diabetic nephropathy. Isoform 2 exhibited a greater effect on cell plasma membrane expression of SCNN1A/ENAC and Na(+) transport than isoform 1.',NULL,NULL,NULL,NULL,NULL),(3450,'UniProt Function',NULL,4342,NULL,'Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, proliferation, survival and migration. Up-regulates Na(+) channels: SCNN1A/ENAC and SCN5A, K(+) channels: KCNA3/KV1.3, KCNE1, KCNQ1 and KCNH2/HERG, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channel: BSND, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, amino acid transporters: SLC1A5/ASCT2 and SLC6A19, glutamate transporters: SLC1A3/EAAT1, SLC1A6/EAAT4 and SLC1A7/EAAT5, glutamate receptors: GRIA1/GLUR1 and GRIK2/GLUR6, Na(+)/H(+) exchanger: SLC9A3/NHE3, and the Na(+)/K(+) ATPase. Plays a role in the regulation of renal tubular phosphate transport and bone density. Phosphorylates NEDD4L and GSK3B. Positively regulates ER transcription activity through phosphorylation of FLII. Negatively regulates the function of ITCH/AIP4 via its phosphorylation and thereby prevents CXCR4 from being efficiently sorted to lysosomes.',NULL,NULL,NULL,NULL,NULL),(3451,'UniProt Function',NULL,4343,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates.',NULL,NULL,NULL,NULL,NULL),(3452,'UniProt Function',NULL,4344,NULL,'Chromatin reader that specifically recognizes and binds histone H3 both trimethylated at \'Lys-4\' and asymmetrically dimethylated at \'Arg-8\' (H3K4me3 and H3R8me2a) and acts as an activator of Wnt signaling pathway downstream of PRMT2. In case of cancer, promotes cell cancer proliferation via activation of the Wnt signaling pathway (PubMed:24589551). Overexpression induces metaphase arrest and chromosomal instability. Localizes to active rDNA loci and promotes the expression of rRNA genes (PubMed:21960006). May play a role in cell-cycle regulation during the transition from gamete to embryo. Involved in oocyte meiotic resumption, a process that takes place before ovulation to resume meiosis of oocytes blocked in prophase I: may act by regulating maternal transcripts to control meiotic resumption.',NULL,NULL,NULL,NULL,NULL),(3453,'UniProt Function',NULL,4345,NULL,'Exhibits H3K4me3-binding activity.',NULL,NULL,NULL,NULL,NULL),(3454,'UniProt Function',NULL,4347,NULL,'Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development (PubMed:10102268, PubMed:24560577). Interaction with the intracellular domain of FLRT3 mediates axon attraction towards cells expressing NTN1 (PubMed:24560577). In axon growth cones, the silencing of the attractive effect of NTN1 by SLIT2 may require the formation of a ROBO1-DCC complex (By similarity). Plays a role in the regulation of cell migration via its interaction with MYO9B; inhibits MYO9B-mediated stimulation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). May be required for lung development (By similarity).',NULL,NULL,NULL,NULL,NULL),(3455,'UniProt Function',NULL,4348,NULL,'DNA-dependent RNA polymerases catalyze the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II, and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2F/RPB6 is part of the clamp element and together with parts of RPB1 and RPB2 forms a pocket to which the RPB4-RPB7 subcomplex binds (By similarity).',NULL,NULL,NULL,NULL,NULL),(3456,'UniProt Function',NULL,4349,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB4 is part of a subcomplex with RPB7 that binds to a pocket formed by RPB1, RPB2 and RPB6 at the base of the clamp element. The RBP4-RPB7 subcomplex seems to lock the clamp via RPB7 in the closed conformation thus preventing double-stranded DNA to enter the active site cleft. The RPB4-RPB7 subcomplex binds single-stranded DNA and RNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(3457,'UniProt Function',NULL,4350,NULL,'Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate.',NULL,NULL,NULL,NULL,NULL),(3458,'UniProt Function',NULL,4351,NULL,'May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells.',NULL,NULL,NULL,NULL,NULL),(3459,'UniProt Function',NULL,4352,NULL,'Is thought to be a target protein for the PIM1 kinase. May play some roles in B-cell proliferation in association with PIM1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(3460,'UniProt Function',NULL,4353,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors.',NULL,NULL,NULL,NULL,NULL),(3461,'UniProt Function',NULL,4355,NULL,'Essential for the generation of mature 18S rRNA, specifically necessary for cleavages at sites A0, 1 and 2 of the 47S precursor. Directly interacts with U3 snoRNA.',NULL,NULL,NULL,NULL,NULL),(3462,'UniProt Function',NULL,4355,NULL,'Involved in the biogenesis of rRNA.',NULL,NULL,NULL,NULL,NULL),(3463,'UniProt Function',NULL,4357,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(3464,'UniProt Function',NULL,4358,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(3465,'UniProt Function',NULL,4359,NULL,'Part of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5\'-ends.',NULL,NULL,NULL,NULL,NULL),(3466,'UniProt Function',NULL,4361,NULL,'May be involved in the regulation of p53-dependent G2 arrest of the cell cycle. Seems to induce cell cycle arrest by inhibiting CDK1 activity and nuclear translocation of the CDC2 cyclin B1 complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(3467,'UniProt Function',NULL,4362,NULL,'Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement.',NULL,NULL,NULL,NULL,NULL),(3468,'UniProt Function',NULL,4363,NULL,'May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis.',NULL,NULL,NULL,NULL,NULL),(3469,'UniProt Function',NULL,4364,NULL,'Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP68 binds the 7S RNA, SRP72 binds to this complex subsequently. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function.',NULL,NULL,NULL,NULL,NULL),(3470,'UniProt Function',NULL,4365,NULL,'Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system.',NULL,NULL,NULL,NULL,NULL),(3471,'UniProt Function',NULL,4366,NULL,'May play a role in regulating breast cancer cell invasiveness (PubMed:26053433). May be involved in RYBP-mediated breast cancer progression (PubMed:27748911).',NULL,NULL,NULL,NULL,NULL),(3472,'UniProt Function',NULL,4368,NULL,'Required for pre-rRNA processing and maturation of 40S ribosomal subunits.',NULL,NULL,NULL,NULL,NULL),(3473,'UniProt Function',NULL,4369,NULL,'Plays a role in constitutive splicing and can modulate the selection of alternative splice sites.',NULL,NULL,NULL,NULL,NULL),(3474,'UniProt Function',NULL,4370,NULL,'Plays a role in constitutive splicing and modulates the selection of alternative splice sites. Plays a role in the alternative splicing of MAPT/Tau exon 10. Binds to alternative exons of TNC pre-mRNA and promotes the expression of alternatively spliced TNC. Plays a role in wound healing and in the regulation of keratinocyte differentiation and proliferation via its role in alternative splicing.',NULL,NULL,NULL,NULL,NULL),(3475,'UniProt Function',NULL,4371,NULL,'Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:28257692, PubMed:23636399, PubMed:25957688, PubMed:25901680). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (PubMed:23636399, PubMed:25957688, PubMed:25901680). Plays an important role in translational accuracy (PubMed:28257692).',NULL,NULL,NULL,NULL,NULL),(3476,'UniProt Function',NULL,4372,NULL,'Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade. Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form. In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. Involved in the RCC1/Ran-GTPase pathway. May play a direct role in a TNF-alpha signaling pathway leading to induction of cell death. May alternatively act as a cellular target for adenovirus E3-14.7K, an inhibitor of TNF-alpha functions, thereby affecting cell death.',NULL,NULL,NULL,NULL,NULL),(3477,'UniProt Function',NULL,4373,NULL,'Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the TOR signaling cascade by amino acids.',NULL,NULL,NULL,NULL,NULL),(3478,'UniProt Function',NULL,4374,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(3479,'UniProt Function',NULL,4375,NULL,'Required for the proliferation and viability of hematopoietic cells. Plays a role in 60S ribosomal subunit formation. The protein was found to bind to both initiator and elongator tRNAs and consequently was assigned to the P site or P and A site.',NULL,NULL,NULL,NULL,NULL),(3480,'UniProt Function',NULL,4377,NULL,'Binds to the 23S rRNA.',NULL,NULL,NULL,NULL,NULL),(3481,'UniProt Function',NULL,4380,NULL,'Interacts with the beta subunit of protein kinase CKII and stimulates phosphorylation of DNA topoisomerase II alpha by CKII.',NULL,NULL,NULL,NULL,NULL),(3482,'UniProt Function',NULL,4381,NULL,'Involved in regulation of type I interferon (IFN)-dependent immune response which plays a critical role in the innate immune response against DNA and RNA viruses. May act as an adapter protein essential for the recruitment of TBK1 to IRF3 (PubMed:24807708). Phosphorylates IFIH1 on \'Ser-828\' interfering with IFIH1 filament assembly on long dsRNA and resulting in attenuated IFIH1-signaling (PubMed:25865883). Can inhibit CASP10 isoform 7-mediated activation of the NF-kappaB signaling pathway (PubMed:19557502). May play a role in the biogenesis of the 40S ribosomal subunit. Involved in the processing of 21S pre-rRNA to the mature 18S rRNA (PubMed:22418843).',NULL,NULL,NULL,NULL,NULL),(3483,'UniProt Function',NULL,4382,NULL,'Tubulin-binding protein that acts as a negative regulator of Notch signaling pathway. Shuttles between the cytoplasm and the nucleus and mediates the nuclear export of RBPJ/RBPSUH, thereby preventing the interaction between RBPJ/RBPSUH and NICD product of Notch proteins (Notch intracellular domain), leading to down-regulate Notch-mediated transcription. May play a role in neurogenesis.',NULL,NULL,NULL,NULL,NULL),(3484,'UniProt Function',NULL,4385,NULL,'Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade. Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form. In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. Involved in the RCC1/Ran-GTPase pathway.',NULL,NULL,NULL,NULL,NULL),(3485,'UniProt Function',NULL,4386,NULL,'Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane.',NULL,NULL,NULL,NULL,NULL),(3486,'UniProt Function',NULL,4388,NULL,'Component of the 40S ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(3487,'UniProt Function',NULL,4391,NULL,'Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation-acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway.',NULL,NULL,NULL,NULL,NULL),(3488,'UniProt Function',NULL,4392,NULL,'May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle.',NULL,NULL,NULL,NULL,NULL),(3489,'UniProt Function',NULL,4393,NULL,'Probable adhesion protein, which mediates homophilic and heterophilic interactions. In contrast to SCARF1, it poorly mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL) (By similarity).',NULL,NULL,NULL,NULL,NULL),(3490,'UniProt Function',NULL,4394,NULL,'Mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). Mediates heterophilic interactions, suggesting a function as adhesion protein. Plays a role in the regulation of neurite-like outgrowth (By similarity).',NULL,NULL,NULL,NULL,NULL),(3491,'UniProt Function',NULL,4395,NULL,'May be involved in regulating transcriptional activation of cardiac genes during the aging process. May play a role in biosynthesis and/or processing of SLC2A4 in adipose cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(3492,'UniProt Function',NULL,4396,NULL,'GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42.',NULL,NULL,NULL,NULL,NULL),(3493,'UniProt Function',NULL,4397,NULL,'Non-receptor tyrosine-protein kinase which phosphorylates DOK1 on tyrosine residues (PubMed:23822091). Also phosphorylates KHDRBS1/SAM68 and VIM on tyrosine residues (PubMed:29496907). Phosphorylation of KHDRBS1 is EGF-dependent (PubMed:29496907).',NULL,NULL,NULL,NULL,NULL),(3494,'UniProt Function',NULL,4399,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(3495,'UniProt Function',NULL,4401,NULL,'May play a role during erythropoiesis through regulation of transcription factor DDIT3.',NULL,NULL,NULL,NULL,NULL),(3496,'UniProt Function',NULL,4402,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(3497,'UniProt Function',NULL,4403,NULL,'Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25957688, PubMed:25901680). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902).',NULL,NULL,NULL,NULL,NULL),(3498,'UniProt Function',NULL,4405,NULL,'The L3 protein is a component of the large subunit of cytoplasmic ribosomes.',NULL,NULL,NULL,NULL,NULL),(3499,'UniProt Function',NULL,4408,NULL,'Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB.',NULL,NULL,NULL,NULL,NULL),(3500,'UniProt Function',NULL,4411,NULL,'Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Binds a specific region on the 26S rRNA. May promote p53/TP53 degradation possibly through the stimulation of MDM2-mediated TP53 polyubiquitination (PubMed:26203195).',NULL,NULL,NULL,NULL,NULL),(3501,'UniProt Function',NULL,4413,NULL,'May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis.',NULL,NULL,NULL,NULL,NULL),(3502,'UniProt Function',NULL,4414,NULL,'Possible splicing regulator involved in the control of cellular survival.',NULL,NULL,NULL,NULL,NULL),(3503,'UniProt Function',NULL,4416,NULL,'Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for insulin-stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By similarity).',NULL,NULL,NULL,NULL,NULL),(3504,'UniProt Function',NULL,4417,NULL,'Adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL kinases and actin cytoskeleton. Can form complex with ABL1 and CBL, thus promoting ubiquitination and degradation of ABL1 or with AKT1 and PAK1, thus mediating AKT1-mediated activation of PAK1. May play a role in the regulation of pancreatic cell adhesion, possibly by acting on WASF1 phosphorylation, enhancing phosphorylation by ABL1, as well as dephosphorylation by PTPN12 (PubMed:18559503). Isoform 6 increases water and sodium absorption in the intestine and gall-bladder.',NULL,NULL,NULL,NULL,NULL),(3505,'UniProt Function',NULL,4418,NULL,'Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch-mediated transcription.',NULL,NULL,NULL,NULL,NULL),(3506,'UniProt Function',NULL,4419,NULL,'Acts as a negative regulator of SRC by activating CSK which inhibits SRC activity and downstream signaling, leading to impaired cell spreading and migration. Regulates dendritic spine morphology. Involved in calcium-dependent exocytosis. May play a role in neurotransmitter release or synapse maintenance.',NULL,NULL,NULL,NULL,NULL),(3507,'UniProt Function',NULL,4420,NULL,'Binds to extracellular matrix proteins. Binds to pathogen-associated molecular patterns (PAMPs) present on the cell walls of Gram-positive and Gram-negative bacteria and fungi, behaving as a pattern recognition receptor (PRR). Induces bacterial and fungal aggregation and subsequent inhibition of PAMP-induced cytokine release. Does not possess intrinsic bactericidal activity. May play a role in the innate defense and homeostasis of certain epithelial surfaces (By similarity).',NULL,NULL,NULL,NULL,NULL),(3508,'UniProt Function',NULL,4421,NULL,'May play a role in the immune system, perhaps as a co-receptor on alphabeta and gammadelta T-cells.',NULL,NULL,NULL,NULL,NULL),(3509,'UniProt Function',NULL,4422,NULL,'Non-receptor protein tyrosine kinase which is activated following engagement of many different classes of cellular receptors including immune response receptors, integrins and other adhesion receptors, receptor protein tyrosine kinases, G protein-coupled receptors as well as cytokine receptors. Participates in signaling pathways that control a diverse spectrum of biological activities including gene transcription, immune response, cell adhesion, cell cycle progression, apoptosis, migration, and transformation. Due to functional redundancy between members of the SRC kinase family, identification of the specific role of each SRC kinase is very difficult. SRC appears to be one of the primary kinases activated following engagement of receptors and plays a role in the activation of other protein tyrosine kinase (PTK) families. Receptor clustering or dimerization leads to recruitment of SRC to the receptor complexes where it phosphorylates the tyrosine residues within the receptor cytoplasmic domains. Plays an important role in the regulation of cytoskeletal organization through phosphorylation of specific substrates such as AFAP1. Phosphorylation of AFAP1 allows the SRC SH2 domain to bind AFAP1 and to localize to actin filaments. Cytoskeletal reorganization is also controlled through the phosphorylation of cortactin (CTTN) (Probable). When cells adhere via focal adhesions to the extracellular matrix, signals are transmitted by integrins into the cell resulting in tyrosine phosphorylation of a number of focal adhesion proteins, including PTK2/FAK1 and paxillin (PXN) (PubMed:21411625). In addition to phosphorylating focal adhesion proteins, SRC is also active at the sites of cell-cell contact adherens junctions and phosphorylates substrates such as beta-catenin (CTNNB1), delta-catenin (CTNND1), and plakoglobin (JUP). Another type of cell-cell junction, the gap junction, is also a target for SRC, which phosphorylates connexin-43 (GJA1). SRC is implicated in regulation of pre-mRNA-processing and phosphorylates RNA-binding proteins such as KHDRBS1 (Probable). Also plays a role in PDGF-mediated tyrosine phosphorylation of both STAT1 and STAT3, leading to increased DNA binding activity of these transcription factors (By similarity). Involved in the RAS pathway through phosphorylation of RASA1 and RASGRF1 (PubMed:11389730). Plays a role in EGF-mediated calcium-activated chloride channel activation (PubMed:18586953). Required for epidermal growth factor receptor (EGFR) internalization through phosphorylation of clathrin heavy chain (CLTC and CLTCL1) at \'Tyr-1477\'. Involved in beta-arrestin (ARRB1 and ARRB2) desensitization through phosphorylation and activation of GRK2, leading to beta-arrestin phosphorylation and internalization. Has a critical role in the stimulation of the CDK20/MAPK3 mitogen-activated protein kinase cascade by epidermal growth factor (Probable). Might be involved not only in mediating the transduction of mitogenic signals at the level of the plasma membrane but also in controlling progression through the cell cycle via interaction with regulatory proteins in the nucleus (PubMed:7853507). Plays an important role in osteoclastic bone resorption in conjunction with PTK2B/PYK2. Both the formation of a SRC-PTK2B/PYK2 complex and SRC kinase activity are necessary for this function. Recruited to activated integrins by PTK2B/PYK2, thereby phosphorylating CBL, which in turn induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function (PubMed:8755529, PubMed:14585963). Promotes energy production in osteoclasts by activating mitochondrial cytochrome C oxidase (PubMed:12615910). Phosphorylates DDR2 on tyrosine residues, thereby promoting its subsequent autophosphorylation (PubMed:16186108). Phosphorylates RUNX3 and COX2 on tyrosine residues, TNK2 on \'Tyr-284\' and CBL on \'Tyr-731\' (PubMed:20100835, PubMed:21309750). Enhances DDX58/RIG-I-elicited antiviral signaling (PubMed:19419966). Phosphorylates PDPK1 at \'Tyr-9\', \'Tyr-373\' and \'Tyr-376\' (PubMed:14585963). Phosphorylates BCAR1 at \'Tyr-128\' (PubMed:22710723). Phosphorylates CBLC at multiple tyrosine residues, phosphorylation at \'Tyr-341\' activates CBLC E3 activity (PubMed:20525694). Involved in anchorage-independent cell growth (PubMed:19307596). Required for podosome formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(3510,'UniProt Function',NULL,4424,NULL,'E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway. Also involved in ITPR1 turnover in resting cells.',NULL,NULL,NULL,NULL,NULL),(3511,'UniProt Function',NULL,4426,NULL,'May induce necrosis and apoptosis. May play a role in cell viability.',NULL,NULL,NULL,NULL,NULL),(3512,'UniProt Function',NULL,4427,NULL,'Important for male fertility. With ROPN1, involved in fibrous sheath integrity and sperm motility, plays a role in PKA-dependent signaling processes required for spermatozoa capacitation.',NULL,NULL,NULL,NULL,NULL),(3513,'UniProt Function',NULL,4428,NULL,'Has very low kinase activity in vitro and is unlikely to function as a tyrosine kinase in vivo (PubMed:25029443). Receptor for ligand WNT5A which activate downstream NFkB signaling pathway and may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443, PubMed:27162350). In inner ear, crucial for spiral ganglion neurons to innervate auditory hair cells (PubMed:27162350).',NULL,NULL,NULL,NULL,NULL),(3514,'UniProt Function',NULL,4429,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs (PubMed:20154270). May direct with other members of the RPC3/POLR3C-RPC6/POLR3F-RPC7/POLR3G subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between TFIIIB and POLR3F. May be involved either in the recruitment and stabilization of the subcomplex within RNA polymerase III, or in stimulating catalytic functions of other subunits during initiation. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs), induce type I interferon and NF- Kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370).',NULL,NULL,NULL,NULL,NULL),(3515,'UniProt Function',NULL,4430,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(3516,'UniProt Function',NULL,4431,NULL,'Involved in the early processing steps of the pre-rRNA in the maturation pathway leading to the 18S rRNA.',NULL,NULL,NULL,NULL,NULL),(3517,'UniProt Function',NULL,4432,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(3518,'UniProt Function',NULL,4432,NULL,'(Microbial infection) Specifically binds to domain C of the Tax-responsive enhancer element in the long terminal repeat of HTLV-I (PubMed:8457378).',NULL,NULL,NULL,NULL,NULL),(3519,'UniProt Function',NULL,4433,NULL,'Endonuclease that catalyzes the cleavage of RNA on the 3\' side of pyrimidine nucleotides. Acts on single-stranded and double-stranded RNA.',NULL,NULL,NULL,NULL,NULL),(3520,'UniProt Function',NULL,4435,NULL,'Participates in pre-mRNA U12-dependent splicing, performed by the minor spliceosome which removes U12-type introns. U12-type introns comprises less than 1% of all non-coding sequences. Binds to the 3\'-stem-loop of m(7)G-capped U12 snRNA.',NULL,NULL,NULL,NULL,NULL),(3521,'UniProt Function',NULL,4437,NULL,'Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection (PubMed:17371836). May bind to specific miRNA hairpins (PubMed:28431233).',NULL,NULL,NULL,NULL,NULL),(3522,'UniProt Function',NULL,4437,NULL,'(Microbial infection) May play a role in HCV RNA replication.',NULL,NULL,NULL,NULL,NULL),(3523,'UniProt Function',NULL,4438,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol I by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity).',NULL,NULL,NULL,NULL,NULL),(3524,'UniProt Function',NULL,4439,NULL,'Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of ADD1, BRCA2, CNN1, EZR, DPYSL2, EP300, MSN, MYL9/MLC2, NPM1, RDX, PPP1R12A and VIM. Phosphorylates SORL1 and IRF4. Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation. Positively regulates the activation of p42/MAPK1-p44/MAPK3 and of p90RSK/RPS6KA1 during myogenic differentiation. Plays an important role in the timely initiation of centrosome duplication. Inhibits keratinocyte terminal differentiation. May regulate closure of the eyelids and ventral body wall through organization of actomyosin bundles. Plays a critical role in the regulation of spine and synaptic properties in the hippocampus. Plays an important role in generating the circadian rhythm of the aortic myofilament Ca(2+) sensitivity and vascular contractility by modulating the myosin light chain phosphorylation.',NULL,NULL,NULL,NULL,NULL),(3525,'UniProt Function',NULL,4440,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively.',NULL,NULL,NULL,NULL,NULL),(3526,'UniProt Function',NULL,4441,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol I is composed of mobile elements and RPA2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity).',NULL,NULL,NULL,NULL,NULL),(3527,'UniProt Function',NULL,4442,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct RNA Pol III binding to the TFIIIB-DNA complex. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. Preferentially binds double-stranded DNA (dsDNA) (PubMed:21358628).',NULL,NULL,NULL,NULL,NULL),(3528,'UniProt Function',NULL,4443,NULL,'Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus.',NULL,NULL,NULL,NULL,NULL),(3529,'UniProt Function',NULL,4444,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(3530,'UniProt Function',NULL,4445,NULL,'Guanine nucleotide exchange factor (GEF) for RAP1A, RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1 activation.',NULL,NULL,NULL,NULL,NULL),(3531,'UniProt Function',NULL,4446,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Forms the polymerase active center together with the second largest subunit. A single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol III. A bridging helix emanates from RPC1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol III by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway.',NULL,NULL,NULL,NULL,NULL),(3532,'UniProt Function',NULL,4447,NULL,'Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:16116091). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510). Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556). The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT (By similarity).',NULL,NULL,NULL,NULL,NULL),(3533,'UniProt Function',NULL,4448,NULL,'Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity.',NULL,NULL,NULL,NULL,NULL),(3534,'UniProt Function',NULL,4449,NULL,'May be required for ribosome biogenesis.',NULL,NULL,NULL,NULL,NULL),(3535,'UniProt Function',NULL,4450,NULL,'Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853).',NULL,NULL,NULL,NULL,NULL),(3536,'UniProt Function',NULL,4452,NULL,'Ribonuclease III double-stranded (ds) RNA-specific endoribonuclease that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DROSHA cleaves the 3\' and 5\' strands of a stem-loop in pri-miRNAs (processing center 11 bp from the dsRNA-ssRNA junction) to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs. Involved also in pre-rRNA processing. Cleaves double-strand RNA and does not cleave single-strand RNA. Involved in the formation of GW bodies.',NULL,NULL,NULL,NULL,NULL),(3537,'UniProt Function',NULL,4454,NULL,'Has E2-dependent E3 ubiquitin-protein ligase activity. May function together with E2 ubiquitin-conjugating enzymes UBE2D1/UBCH5A and UBE2D2/UBC4. Mediates ubiquitination of PXN/paxillin and Salmonella type III secreted protein sopA. May be involved in regulation of cell motility and localization of PXN/paxillin. Mediates the \'Lys-63\'-linked polyubiquitination of JKAMP thereby regulating JKAMP function by decreasing its association with components of the proteasome and ERAD; the ubiquitination appears to involve E2 ubiquitin-conjugating enzyme UBE2N. Mediates the \'Lys-48\'-linked polyubiquitination of TMEM173 at \'Lys-150\' leading to its proteasomal degradation; the ubiquitination occurs in mitochondria after viral transfection and regulates antiviral responses.',NULL,NULL,NULL,NULL,NULL),(3538,'UniProt Function',NULL,4455,NULL,'May play a role in TRPCs intracellular trafficking.',NULL,NULL,NULL,NULL,NULL),(3539,'UniProt Function',NULL,4456,NULL,'Endoribonuclease which preferentially cleaves ApU and ApG phosphodiester bonds. Hydrolyzes UpU bonds at a lower rate.',NULL,NULL,NULL,NULL,NULL),(3540,'UniProt Function',NULL,4457,NULL,'Secreted proximal epididymal protein required for post-testicular sperm maturation and male fertility. May be involved in sperm adhesion to the egg zona pellucida. Does not have ribonuclease activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(3541,'UniProt Function',NULL,4458,NULL,'Part of pre- and post-splicing multiprotein mRNP complexes. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Enhances the formation of the ATP-dependent A complex of the spliceosome. Involved in both constitutive splicing and, in association with SRP54 and TRA2B/SFRS10, in distinctive modulation of alternative splicing in a substrate-dependent manner. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. Participates in mRNA 3\'-end cleavage. Involved in UPF2-dependent nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Also mediates increase of mRNA abundance and translational efficiency. Binds spliced mRNA 20-25 nt upstream of exon-exon junctions.',NULL,NULL,NULL,NULL,NULL),(3542,'UniProt Function',NULL,4459,NULL,'Induces production of reactive oxygen species (ROS) which are necessary for cell proliferation. May play a role in inducing oxidative DNA damage and replicative senescence. May play a role in the coordination of mitochondrial morphology and cell proliferation.',NULL,NULL,NULL,NULL,NULL),(3543,'UniProt Function',NULL,4459,NULL,'Has antibacterial activity against a variety of bacteria including S.aureus, P.aeruginosa and M.tuberculosis. Acts by inducing bacterial membrane breakage.',NULL,NULL,NULL,NULL,NULL),(3544,'UniProt Function',NULL,4460,NULL,'Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity).',NULL,NULL,NULL,NULL,NULL),(3545,'UniProt Function',NULL,4461,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively.',NULL,NULL,NULL,NULL,NULL),(3546,'UniProt Function',NULL,4462,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Isoform 1 is involved in UBTF-activated transcription, presumably at a step following PIC formation.',NULL,NULL,NULL,NULL,NULL),(3547,'UniProt Function',NULL,4462,NULL,'Isoform 2 has been described as a component of preformed T-cell receptor (TCR) complex.',NULL,NULL,NULL,NULL,NULL),(3548,'UniProt Function',NULL,4463,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB2 is part of the core element with the central large cleft, the clamp element that moves to open and close the cleft and the jaws that are thought to grab the incoming DNA template (By similarity).',NULL,NULL,NULL,NULL,NULL),(3549,'UniProt Function',NULL,4464,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(3550,'UniProt Function',NULL,4464,NULL,'Accessory protein for the calcitonin gene-related peptide (CGRP) receptor. It modulates CGRP responsiveness in a variety of tissues.',NULL,NULL,NULL,NULL,NULL),(3551,'UniProt Function',NULL,4465,NULL,'E3 ubiquitin-protein ligase that acts as a regulator of motor axon elongation. Required for efficient motor axon extension in the dorsal forelimb by enhancing the transcriptional responses of the SMAD1/SMAD5/SMAD8 effectors, which are activated downstream of BMP. Acts by mediating ubiquitination and degradation of SMAD inhibitors such as SMAD6, SMAD7, SKI and SNON isoform of SKIL.',NULL,NULL,NULL,NULL,NULL),(3552,'UniProt Function',NULL,4466,NULL,'E3 ubiquitin-protein ligase that may play a role in controlling cell proliferation.',NULL,NULL,NULL,NULL,NULL),(3553,'UniProt Function',NULL,4467,NULL,'Zinc phosphodiesterase, which displays some tRNA 3\'-processing endonuclease activity. Probably involved in tRNA maturation, by removing a 3\'-trailer from precursor tRNA.',NULL,NULL,NULL,NULL,NULL),(3554,'UniProt Function',NULL,4468,NULL,'Binds single-stranded RNA. Has a high affinity for G-rich and U-rich regions of hnRNA. Also binds to APOB mRNA transcripts around the RNA editing site.',NULL,NULL,NULL,NULL,NULL),(3555,'UniProt Function',NULL,4469,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway.',NULL,NULL,NULL,NULL,NULL),(3556,'UniProt Function',NULL,4470,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2L/RBP10 is part of the core element with the central large cleft (By similarity).',NULL,NULL,NULL,NULL,NULL),(3557,'UniProt Function',NULL,4471,NULL,'E3 ubiquitin-protein ligase involved in angiogenesis (PubMed:21799892, PubMed:26278786, PubMed:26766444, PubMed:26126547). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity (PubMed:24658080, PubMed:26126547).',NULL,NULL,NULL,NULL,NULL),(3558,'UniProt Function',NULL,4472,NULL,'E3 ubiquitin-protein ligase. Ubiquitinates BRAF, inducing its proteasomal degradation.',NULL,NULL,NULL,NULL,NULL),(3559,'UniProt Function',NULL,4473,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(3560,'UniProt Function',NULL,4474,NULL,'E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8.',NULL,NULL,NULL,NULL,NULL),(3561,'UniProt Function',NULL,4475,NULL,'E3 ubiquitin ligase that ubiquitinates APBB1 for its degradation by the proteasome and thus prevents apoptosis and promotes survival of neurons (PubMed:25342469). Has a dual role in neurons as it is also required for dendrite growth and maintenance for which its ligase activity is not critical (PubMed:25342469). May act as a scaffold molecule to regulate this process (PubMed:25342469). Acts as a downstream effector of the interconnected PI3K and MAPK signaling pathways and thus participates in the regulation of the cell cycle (PubMed:28655764).',NULL,NULL,NULL,NULL,NULL),(3562,'UniProt Function',NULL,4476,NULL,'E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canonical Wnt signaling pathway (PubMed:18313049, PubMed:22575959, PubMed:22895187). Along with RSPO2 and ZNRF3, constitutes a master switch that governs limb specification (By similarity).',NULL,NULL,NULL,NULL,NULL),(3563,'UniProt Function',NULL,4478,NULL,'Endonuclease that specifically degrades the RNA of RNA-DNA hybrids (PubMed:10497183). Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II (PubMed:21700224).',NULL,NULL,NULL,NULL,NULL),(3564,'UniProt Function',NULL,4479,NULL,'Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.',NULL,NULL,NULL,NULL,NULL),(3565,'UniProt Function',NULL,4480,NULL,'Does not exhibit any ribonuclease activity.',NULL,NULL,NULL,NULL,NULL),(3566,'UniProt Function',NULL,4481,NULL,'Important for male fertility. With ROPN1L, involved in fibrous sheath integrity and sperm motility, plays a role in PKA-dependent signaling processes required for spermatozoa capacitation.',NULL,NULL,NULL,NULL,NULL),(3567,'UniProt Function',NULL,4482,NULL,'Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(3568,'UniProt Function',NULL,4483,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB9 is part of the upper jaw surrounding the central large cleft and thought to grab the incoming DNA template (By similarity).',NULL,NULL,NULL,NULL,NULL),(3569,'UniProt Function',NULL,4484,NULL,'Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate.',NULL,NULL,NULL,NULL,NULL),(3570,'UniProt Function',NULL,4486,NULL,'Plays a role in cardiac repolarization possibly by stabilizing membrane expression of the potassium channel KCNH2/HERG, or by assisting its synthesis, folding or export from the endoplasmic reticulum, in a heat shock protein-dependent manner.',NULL,NULL,NULL,NULL,NULL),(3571,'UniProt Function',NULL,4487,NULL,'E3 ubiquitin-protein ligase promoting the ubiquitination and degradation of the CDK inhibitor CDKN1A and probably also CDKN1B and CDKN1C. These activities stimulate cell cycle\'s G1-to-S phase transition and suppress cellular senescence. May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(3572,'UniProt Function',NULL,4489,NULL,'Nuclear export factor for BMP-specific SMAD1/5/8 that plays a critical role in terminating BMP signaling and regulating mesenchymal stem cell differentiation by blocking osteoblast differentiation to promote myogenic differention. Directly recognizes dephosphorylated SMAD1/5/8 and mediates their nuclear export in a Ran-dependent manner.',NULL,NULL,NULL,NULL,NULL),(3573,'UniProt Function',NULL,4491,NULL,'E3 ubiquitin-protein ligase that catalyzes \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains formation. Functions as an inhibitor of cytokine gene transcription. Inhibits IL2 and IL4 transcription, thereby playing an important role in the induction of the anergic phenotype, a long-term stable state of T-lymphocyte unresponsiveness to antigenic stimulation associated with the blockade of interleukin production. Ubiquitinates ARPC5 with \'Lys-48\' linkages and COR1A with \'Lys-63\' linkages leading to their degradation, down-regulation of these cytosleletal components results in impaired lamellipodium formation and reduced accumulation of F-actin at the immunological synapse. Functions in the patterning of the dorsal ectoderm; sensitizes ectoderm to respond to neural-inducing signals.',NULL,NULL,NULL,NULL,NULL),(3574,'UniProt Function',NULL,4492,NULL,'May act as an E3 ubiquitin-protein ligase, or as part of the E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2E1, and then transfers it to substrates, such as SLC22A18. May play a role in growth regulation involved in G1/S transition.',NULL,NULL,NULL,NULL,NULL),(3575,'UniProt Function',NULL,4493,NULL,'E3 ubiquitin-protein ligase which binds polysumoylated chains covalently attached to proteins and mediates \'Lys-6\'-, \'Lys-11\'-, \'Lys-48\'- and \'Lys-63\'-linked polyubiquitination of those substrates and their subsequent targeting to the proteasome for degradation. Regulates the degradation of several proteins including PML and the transcriptional activator PEA3. Involved in chromosome alignment and spindle assembly, it regulates the kinetochore CENPH-CENPI-CENPK complex by targeting polysumoylated CENPI to proteasomal degradation. Regulates the cellular responses to hypoxia and heat shock through degradation of respectively EPAS1 and PARP1. Alternatively, it may also bind DNA/nucleosomes and have a more direct role in the regulation of transcription for instance enhancing basal transcription and steroid receptor-mediated transcriptional activation.',NULL,NULL,NULL,NULL,NULL),(3576,'UniProt Function',NULL,4494,NULL,'Does not exhibit any ribonuclease activity.',NULL,NULL,NULL,NULL,NULL),(3577,'UniProt Function',NULL,4495,NULL,'RNA-binding protein that binds to misfolded non-coding RNAs, pre-5S rRNA, and several small cytoplasmic RNA molecules known as Y RNAs. May stabilize some of these RNAs and protect them from degradation.',NULL,NULL,NULL,NULL,NULL),(3578,'UniProt Function',NULL,4495,NULL,'May play roles in cilia formation and/or maintenance.',NULL,NULL,NULL,NULL,NULL),(3579,'UniProt Function',NULL,4498,NULL,'Involved in the biogenesis of the 60S ribosomal subunit. Ensures the docking of GTPBP4/NOG1 to pre-60S particles (By similarity).',NULL,NULL,NULL,NULL,NULL),(3580,'UniProt Function',NULL,4505,NULL,'Componement of the CCZ1-MON1 RAB7A guanine exchange factor (GEF). Acts as a positive regulator of CCZ1-MON1A/B function necessary for endosomal/autophagic flux and efficient RAB7A localization (PubMed:29038162).',NULL,NULL,NULL,NULL,NULL),(3581,'UniProt Function',NULL,4507,NULL,'Exhibits a potent RNase activity (PubMed:12244054, PubMed:12527768, PubMed:17150966). Has broad-spectrum antimicrobial activity against many pathogenic microorganisms and remarkably potent activity (lethal dose of 90% < 30 nM) against a vancomycin resistant Enterococcus faecium (PubMed:12244054, PubMed:12527768, PubMed:25075772, PubMed:17150966). Causes loss of bacterial membrane integrity (PubMed:17150966). Probably contributes to urinary tract sterility (PubMed:25075772). Bactericidal activity is independent of RNase activity (PubMed:17150966).',NULL,NULL,NULL,NULL,NULL),(3582,'UniProt Function',NULL,4508,NULL,'Isoform 1 acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down-regulates activation of NF-kappa-B, IRF3 activation and IFNB production. Isoform 3 inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis.',NULL,NULL,NULL,NULL,NULL),(3583,'UniProt Function',NULL,4509,NULL,'May be involved in acrosome formation of spermatids.',NULL,NULL,NULL,NULL,NULL),(3584,'UniProt Function',NULL,4510,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection.',NULL,NULL,NULL,NULL,NULL),(3585,'UniProt Function',NULL,4511,NULL,'E3-ubiquitin ligase; acts as a negative regulator of the cell proliferation through mechanisms involving G2/M arrest and cell death. Required for MHC class I ubiquitination in cells expressing the cytomegalovirus protein US2 before dislocation from the endoplasmic reticulum (ER). Affects SREBP processing by hindering the SREBP/SCAP complex translocation from the ER to the Golgi, thereby reducing SREBF2 target gene expression. Required for INSIG1 ubiquitination. May be required for EIF3 complex ubiquitination. May function as a signaling receptor.',NULL,NULL,NULL,NULL,NULL),(3586,'UniProt Function',NULL,4512,NULL,'May have a ubiquitin-protein ligase activity acting as an E3 ubiquitin-protein ligase or as a ubiquitin-ubiquitin ligase promoting elongation of ubiquitin chains on substrates.',NULL,NULL,NULL,NULL,NULL),(3587,'UniProt Function',NULL,4514,NULL,'Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.',NULL,NULL,NULL,NULL,NULL),(3588,'UniProt Function',NULL,4515,NULL,'Broad specificity aminopeptidase which preferentially hydrolyzes an N-terminal methionine, citrulline or glutamine.',NULL,NULL,NULL,NULL,NULL),(3589,'UniProt Function',NULL,4516,NULL,'Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5\'-AGGTCA-3\' preceded by a short A-T-rich sequence. Key regulator of cellular differentiation, immunity, peripheral circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism (PubMed:19381306, PubMed:19965867, PubMed:22789990, PubMed:26160376, PubMed:20203100). Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectively (PubMed:19965867, PubMed:22789990). Recruits distinct combinations of cofactors to target gene regulatory regions to modulate their transcriptional expression, depending on the tissue, time and promoter contexts. Regulates the circadian expression of clock genes such as CRY1, ARNTL/BMAL1 and NR1D1 in peripheral tissues and in a tissue-selective manner. Competes with NR1D1 for binding to their shared DNA response element on some clock genes such as ARNTL/BMAL1, CRY1 and NR1D1 itself, resulting in NR1D1-mediated repression or RORC-mediated activation of the expression, leading to the circadian pattern of clock genes expression. Therefore influences the period length and stability of the clock. Involved in the regulation of the rhythmic expression of genes involved in glucose and lipid metabolism, including PLIN2 and AVPR1A (PubMed:19965867). Negative regulator of adipocyte differentiation through the regulation of early phase genes expression, such as MMP3. Controls adipogenesis as well as adipocyte size and modulates insulin sensitivity in obesity. In liver, has specific and redundant functions with RORA as positive or negative modulator of expression of genes encoding phase I and Phase II proteins involved in the metabolism of lipids, steroids and xenobiotics, such as SULT1E1. Also plays also a role in the regulation of hepatocyte glucose metabolism through the regulation of G6PC and PCK1 (PubMed:19965867). Regulates the rhythmic expression of PROX1 and promotes its nuclear localization (PubMed:19381306, PubMed:19965867, PubMed:22789990, PubMed:26160376, PubMed:20203100). Plays an indispensable role in the induction of IFN-gamma dependent anti-mycobacterial systemic immunity (PubMed:26160376).',NULL,NULL,NULL,NULL,NULL),(3590,'UniProt Function',NULL,4516,NULL,'Isoform 2: Essential for thymopoiesis and the development of several secondary lymphoid tissues, including lymph nodes and Peyer\'s patches. Required for the generation of LTi (lymphoid tissue inducer) cells. Regulates thymocyte survival through DNA-binding on ROREs of target gene promoter regions and recruitment of coactivaros via the AF-2. Also plays a key role, downstream of IL6 and TGFB and synergistically with RORA, for lineage specification of uncommitted CD4(+) T-helper (T(H)) cells into T(H)17 cells, antagonizing the T(H)1 program. Probably regulates IL17 and IL17F expression on T(H) by binding to the essential enhancer conserved non-coding sequence 2 (CNS2) in the IL17-IL17F locus. May also play a role in the pre-TCR activation cascade leading to the maturation of alpha/beta T-cells and may participate in the regulation of DNA accessibility in the TCR-J(alpha) locus.',NULL,NULL,NULL,NULL,NULL),(3591,'UniProt Function',NULL,4517,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(3592,'UniProt Function',NULL,4518,NULL,'Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the \'visual cycle\'.',NULL,NULL,NULL,NULL,NULL),(3593,'UniProt Function',NULL,4521,NULL,'Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes. RNASEL mediated apoptosis is the result of a JNK-dependent stress-response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis. Therefore, activation of RNASEL could lead to elimination of virus infected cells under some circumstances. In the crosstalk between autophagy and apoptosis proposed to induce autophagy as an early stress response to small double-stranded RNA and at later stages of prolonged stress to activate caspase-dependent proteolytic cleavage of BECN1 to terminate autophagy and promote apoptosis (PubMed:26263979). Might play a central role in the regulation of mRNA turnover (PubMed:11585831). Cleaves 3\' of UpNp dimers, with preference for UU and UA sequences, to sets of discrete products ranging from between 4 and 22 nucleotides in length.',NULL,NULL,NULL,NULL,NULL),(3594,'UniProt Function',NULL,4522,NULL,'Probable E3 ubiquitin-protein ligase that acts as a negative regulator of double-strand breaks (DSBs) repair following DNA damage. Recruited to DSB repair sites by recognizing and binding ubiquitin catalyzed by RNF168 and competes with TP53BP1 and BRCA1 for association with RNF168-modified chromatin, thereby acting as a negative regulator of DSBs repair. E3 ubiquitin-protein ligase activity is not required for regulation of DSBs repair.',NULL,NULL,NULL,NULL,NULL),(3595,'UniProt Function',NULL,4523,NULL,'E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the \'Lys-63\'-linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand breaks (DSBs) sites, and by catalyzing \'Lys-48\'-linked ubiquitination to remove target proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated MDC1 and catalyzes the \'Lys-63\'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP53BP1 and BRCA1 ionizing radiation-induced foci (IRIF). Also controls the recruitment of UIMC1-BRCC3 (RAP80-BRCC36) and PAXIP1/PTIP to DNA damage sites. Also recruited at DNA interstrand cross-links (ICLs) sites and catalyzes \'Lys-63\'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Promotes the formation of \'Lys-63\'-linked polyubiquitin chains via interactions with the specific ubiquitin-conjugating UBE2N/UBC13 and ubiquitinates non-histone substrates such as PCNA. Substrates that are polyubiquitinated at \'Lys-63\' are usually not targeted for degradation. Also catalyzes the formation of \'Lys-48\'-linked polyubiquitin chains via interaction with the ubiquitin-conjugating UBE2L6/UBCH8, leading to degradation of substrate proteins such as CHEK2, JMJD2A/KDM4A and KU80/XRCC5: it is still unclear how the preference toward \'Lys-48\'- versus \'Lys-63\'-linked ubiquitination is regulated but it could be due to RNF8 ability to interact with specific E2 specific ligases. For instance, interaction with phosphorylated HERC2 promotes the association between RNF8 and UBE2N/UBC13 and favors the specific formation of \'Lys-63\'-linked ubiquitin chains. Promotes non-homologous end joining (NHEJ) by promoting the \'Lys-48\'-linked ubiquitination and degradation the of KU80/XRCC5. Following DNA damage, mediates the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF168, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites (PubMed:11322894, PubMed:14981089, PubMed:17724460, PubMed:18001824, PubMed:18001825, PubMed:18006705, PubMed:18077395, PubMed:18337245, PubMed:18948756, PubMed:19015238, PubMed:19124460, PubMed:19202061, PubMed:19203578, PubMed:19203579, PubMed:20550933, PubMed:21558560, PubMed:21857671, PubMed:21911360, PubMed:22266820, PubMed:22373579, PubMed:22531782, PubMed:22705371, PubMed:22865450, PubMed:22980979). Following DNA damage, mediates the ubiquitination and degradation of POLD4/p12, a subunit of DNA polymerase delta. In the absence of POLD4, DNA polymerase delta complex exhibits higher proofreading activity (PubMed:23233665). In addition to its function in damage signaling, also plays a role in higher-order chromatin structure by mediating extensive chromatin decondensation. Involved in the activation of ATM by promoting histone H2B ubiquitination, which indirectly triggers histone H4 \'Lys-16\' acetylation (H4K16ac), establishing a chromatin environment that promotes efficient activation of ATM kinase. Required in the testis, where it plays a role in the replacement of histones during spermatogenesis. At uncapped telomeres, promotes the joining of deprotected chromosome ends by inducing H2A ubiquitination and TP53BP1 recruitment, suggesting that it may enhance cancer development by aggravating telomere-induced genome instability in case of telomeric crisis. Promotes the assembly of RAD51 at DNA DSBs in the absence of BRCA1 and TP53BP1 Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. May be required for proper exit from mitosis after spindle checkpoint activation and may regulate cytokinesis. May play a role in the regulation of RXRA-mediated transcriptional activity. Not involved in RXRA ubiquitination by UBE2E2 (PubMed:11322894, PubMed:14981089, PubMed:17724460, PubMed:18001824, PubMed:18001825, PubMed:18006705, PubMed:18077395, PubMed:18337245, PubMed:18948756, PubMed:19015238, PubMed:19124460, PubMed:19202061, PubMed:19203578, PubMed:19203579, PubMed:20550933, PubMed:21558560, PubMed:21857671, PubMed:21911360, PubMed:22266820, PubMed:22373579, PubMed:22531782, PubMed:22705371, PubMed:22865450, PubMed:22980979).',NULL,NULL,NULL,NULL,NULL),(3596,'UniProt Function',NULL,4524,NULL,'Zinc phosphodiesterase, which displays mitochondrial tRNA 3\'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3\'-trailer from precursor tRNA.',NULL,NULL,NULL,NULL,NULL),(3597,'UniProt Function',NULL,4525,NULL,'Thought to be involved during neural development in axonal navigation at the ventral midline of the neural tube. In spinal chord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1 (By similarity). Required for hindbrain axon midline crossing.',NULL,NULL,NULL,NULL,NULL),(3598,'UniProt Function',NULL,4526,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Forms the polymerase active center together with the second largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB1 is part of the core element with the central large cleft, the clamp element that moves to open and close the cleft and the jaws that are thought to grab the incoming DNA template. At the start of transcription, a single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol II. A bridging helix emanates from RPB1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol II by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition. During transcription elongation, Pol II moves on the template as the transcript elongates. Elongation is influenced by the phosphorylation status of the C-terminal domain (CTD) of Pol II largest subunit (RPB1), which serves as a platform for assembly of factors that regulate transcription initiation, elongation, termination and mRNA processing. Regulation of gene expression levels depends on the balance between methylation and acetylation levels of tha CTD-lysines (By similarity). Initiation or early elongation steps of transcription of growth-factors-induced immediate early genes are regulated by the acetylation status of the CTD (PubMed:24207025). Methylation and dimethylation have a repressive effect on target genes expression (By similarity).',NULL,NULL,NULL,NULL,NULL),(3599,'UniProt Function',NULL,4526,NULL,'(Microbial infection) Acts as an RNA-dependent RNA polymerase when associated with small delta antigen of Hepatitis delta virus, acting both as a replicate and transcriptase for the viral RNA circular genome.',NULL,NULL,NULL,NULL,NULL),(3600,'UniProt Function',NULL,4527,NULL,'Plays a role in cytoplasmic trafficking of RNA. Binds to the cis-acting response element, A2RE. May be involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(3601,'UniProt Function',NULL,4529,NULL,'May be involved in signal-transduction pathways related to the control of brain development.',NULL,NULL,NULL,NULL,NULL),(3602,'UniProt Function',NULL,4530,NULL,'Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. Promotes the association of TNFAIP3 to RIPK1 after TNF stimulation. TNFAIP3 deubiquitinates \'Lys-63\' polyubiquitin chains on RIPK1 and catalyzes the formation of \'Lys-48\'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Recruits STAMBP to the E3 ubiquitin-ligase SMURF2 for ubiquitination, leading to its degradation by the 26S proteasome.',NULL,NULL,NULL,NULL,NULL),(3603,'UniProt Function',NULL,4531,NULL,'E3 ubiquitin-protein ligase. Acts as a negative coregulator for LIM homeodomain transcription factors by mediating the ubiquitination and subsequent degradation of LIM cofactors LDB1 and LDB2 and by mediating the recruitment the SIN3a/histone deacetylase corepressor complex. Ubiquitination and degradation of LIM cofactors LDB1 and LDB2 allows DNA-bound LIM homeodomain transcription factors to interact with other protein partners such as RLIM. Plays a role in telomere length-mediated growth suppression by mediating the ubiquitination and degradation of TERF1. By targeting ZFP42 for degradation, acts as an activator of random inactivation of X chromosome in the embryo, a stochastic process in which one X chromosome is inactivated to minimize sex-related dosage differences of X-encoded genes in somatic cells of female placental mammals.',NULL,NULL,NULL,NULL,NULL),(3604,'UniProt Function',NULL,4532,NULL,'Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.',NULL,NULL,NULL,NULL,NULL),(3605,'UniProt Function',NULL,4533,NULL,'May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis.',NULL,NULL,NULL,NULL,NULL),(3606,'UniProt Function',NULL,4534,NULL,'Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to MST1 ligand. Regulates many physiological processes including cell survival, migration and differentiation. Ligand binding at the cell surface induces autophosphorylation of RON on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1 or the adapter GAB1. Recruitment of these downstream effectors by RON leads to the activation of several signaling cascades including the RAS-ERK, PI3 kinase-AKT, or PLCgamma-PKC. RON signaling activates the wound healing response by promoting epithelial cell migration, proliferation as well as survival at the wound site. Plays also a role in the innate immune response by regulating the migration and phagocytic activity of macrophages. Alternatively, RON can also promote signals such as cell migration and proliferation in response to growth factors other than MST1 ligand.',NULL,NULL,NULL,NULL,NULL),(3607,'UniProt Function',NULL,4535,NULL,'Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation (PubMed:17717073). In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443).',NULL,NULL,NULL,NULL,NULL),(3608,'UniProt Function',NULL,4536,NULL,'Important for male fertility. With ROPN1L, involved in fibrous sheath integrity and sperm motility, plays a role in PKA-dependent signaling processes required for spermatozoa capacitation.',NULL,NULL,NULL,NULL,NULL),(3609,'UniProt Function',NULL,4537,NULL,'Exhibits H3K4me3-binding activity.',NULL,NULL,NULL,NULL,NULL),(3610,'UniProt Function',NULL,4538,NULL,'Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala) (PubMed:27622773, PubMed:27911835, PubMed:28493438). Also edits incorrectly charged tRNA(Ala) via its editing domain (PubMed:27622773, PubMed:27911835, PubMed:28493438).',NULL,NULL,NULL,NULL,NULL),(3611,'UniProt Function',NULL,4539,NULL,'Histone demethylase that specifically demethylates dimethylated \'Lys-20\' of histone H4 (H4K20me2), thereby modulating chromosome architecture.',NULL,NULL,NULL,NULL,NULL),(3612,'UniProt Function',NULL,4542,NULL,'Plays a role in adipocyte differentiation by promoting mTORC2-mediated phosphorylation of AKT1 at \'Ser-473\' after growth factor stimulation (PubMed:23300339).',NULL,NULL,NULL,NULL,NULL),(3613,'UniProt Function',NULL,4544,NULL,'Regulator of rDNA transcription. Acts in cooperation UBF/UBTF and positively regulates RNA polymerase I transcription (By similarity).',NULL,NULL,NULL,NULL,NULL),(3614,'UniProt Function',NULL,4545,NULL,'Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules.',NULL,NULL,NULL,NULL,NULL),(3615,'UniProt Function',NULL,4546,NULL,'Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors (PubMed:29769720). Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (PubMed:21727895, PubMed:21909076).',NULL,NULL,NULL,NULL,NULL),(3616,'UniProt Function',NULL,4548,NULL,'Catalyzes the conversion of 3\'-phosphate to a 2\',3\'-cyclic phosphodiester at the end of RNA. The mechanism of action of the enzyme occurs in 3 steps: (A) adenylation of the enzyme by ATP; (B) transfer of adenylate to an RNA-N3\'P to produce RNA-N3\'PP5\'A; (C) and attack of the adjacent 2\'-hydroxyl on the 3\'-phosphorus in the diester linkage to produce the cyclic end product. The biological role of this enzyme is unknown but it is likely to function in some aspects of cellular RNA processing.',NULL,NULL,NULL,NULL,NULL),(3617,'UniProt Function',NULL,4550,NULL,'Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis to cells in gastric tumorigenesis. May play a novel role in the organization of septin structures.',NULL,NULL,NULL,NULL,NULL),(3618,'UniProt Function',NULL,4551,NULL,'Probable chaperone protein which facilitates trafficking and functional cell surface expression of some G-protein coupled receptors (GPCRs). Promotes functional expression of the bitter taste receptor TAS2R16 (PubMed:16720576). Also promotes functional expression of the opioid receptor heterodimer OPRD1-OPRM1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(3619,'UniProt Function',NULL,4552,NULL,'Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone 3\'-end processing (PubMed:12975319).',NULL,NULL,NULL,NULL,NULL),(3620,'UniProt Function',NULL,4553,NULL,'Associated with snRNP U1, U2, U4/U6 and U5.',NULL,NULL,NULL,NULL,NULL),(3621,'UniProt Function',NULL,4554,NULL,'May be a coreceptor along with FZD8 of Wnt proteins, such as WNT1, WNT3, WNT3A and WNT5A. Involved in neuron differentiation, axon guidance, corpus callosum establishment and neurite outgrowth. In response to WNT3 stimulation, receptor C-terminal cleavage occurs in its transmembrane region and allows the C-terminal intracellular product to translocate from the cytoplasm to the nucleus where it plays a crucial role in neuronal development.',NULL,NULL,NULL,NULL,NULL),(3622,'UniProt Function',NULL,4556,NULL,'Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.',NULL,NULL,NULL,NULL,NULL),(3623,'UniProt Function',NULL,4557,NULL,'Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria (PubMed:25320081). Transports preferentially uracil, thymine, and cytosine (deoxy)nucleoside di- and triphosphates by an antiport mechanism (PubMed:25320081). Also transports guanine but not adenine (deoxy)nucleotides (PubMed:25320081). Is inhibited strongly by pyridoxal 5\'-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride, mersalyl acid, p-hydroxymercuribenzoate) (PubMed:25320081). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration (PubMed:20453889). Upon INS or IGF1 stimulation regulates cell growth and proliferation by controlling mitochondrial DNA replication and transcription, the ratio of mitochondria-to nuclear-encoded components of the electron transport chain resulting in control of mitochondrial ROS production (PubMed:20453889, PubMed:17596519). Participates in dendritic cell endocytosis and may associate with mitochondrial oxidative phosphorylation (PubMed:14715278).',NULL,NULL,NULL,NULL,NULL),(3624,'UniProt Function',NULL,4558,NULL,'Sodium-dependent, pyrimidine- and purine-selective. Involved in the homeostasis of endogenous nucleosides. Exhibits the transport characteristics of the nucleoside transport system cib or N3 subtype (N3/cib) (with marked transport of both thymidine and inosine). Employs a 2:1 sodium/nucleoside ratio. Also able to transport gemcitabine, 3\'-azido-3\'-deoxythymidine (AZT), ribavirin and 3-deazauridine.',NULL,NULL,NULL,NULL,NULL),(3625,'UniProt Function',NULL,4561,NULL,'May function as a transcriptional regulator. Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal.',NULL,NULL,NULL,NULL,NULL),(3626,'UniProt Function',NULL,4563,NULL,'Riboflavin-binding protein which might have a role in retinal flavin transport.',NULL,NULL,NULL,NULL,NULL),(3627,'UniProt Function',NULL,4566,NULL,'Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and \'Ser-2\'- and \'Ser-5\'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 \'Lys-4\' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of \'Lys-120\' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3\' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Binds single-stranded DNA. Required for maximal induction of heat-shock genes. Required for the trimethylation of histone H3 \'Lys-4\' (H3K4me3) on genes involved in stem cell pluripotency; this function is synergistic with CXXC1 indicative for an involvement of a SET1 complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(3628,'UniProt Function',NULL,4567,NULL,'Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone 3\'-end processing (PubMed:12975319).',NULL,NULL,NULL,NULL,NULL),(3629,'UniProt Function',NULL,4568,NULL,'Calcium-binding protein. Binds one calcium ion per monomer (PubMed:17030513). Can promote differentiation of adipocytes (in vitro) (By similarity). Overexpression in preadipocytes increases their proliferation, enhances adipogenesis and reduces insulin-stimulated glucose uptake (By similarity).',NULL,NULL,NULL,NULL,NULL),(3630,'UniProt Function',NULL,4569,NULL,'May regulate STK11/LKB1 function by controlling its subcellular localization.',NULL,NULL,NULL,NULL,NULL),(3631,'UniProt Function',NULL,4570,NULL,'Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides. May constitute a major route for the absorption of protein digestion end-products.',NULL,NULL,NULL,NULL,NULL),(3632,'UniProt Function',NULL,4571,NULL,'Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE).',NULL,NULL,NULL,NULL,NULL),(3633,'UniProt Function',NULL,4572,NULL,'Sulfate transporter. May play a role in endochondral bone formation.',NULL,NULL,NULL,NULL,NULL),(3634,'UniProt Function',NULL,4573,NULL,'Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer chemotherapeutics drugs).',NULL,NULL,NULL,NULL,NULL),(3635,'UniProt Function',NULL,4574,NULL,'Cell surface receptor for LCN2 (24p3) that plays a key role in iron homeostasis and transport. Able to bind iron-bound LCN2 (holo-24p3), followed by internalization of holo-24p3 and release of iron, thereby increasing intracellular iron concentration and leading to inhibition of apoptosis. Also binds iron-free LCN2 (apo-24p3), followed by internalization of apo-24p3 and its association with an intracellular siderophore, leading to iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration and resulting in apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(3636,'UniProt Function',NULL,4575,NULL,'Mediates zinc uptake. May function as a major endogenous zinc uptake transporter in many cells of the body. Responsible for the rapid uptake and accumulation of physiologically effective zinc in prostate cells.',NULL,NULL,NULL,NULL,NULL),(3637,'UniProt Function',NULL,4576,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1-like complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility (PubMed:25519132). Component of a PRC1-like complex that mediates monoubiquitination of histone H2A \'Lys-119\' on the X chromosome and is required for normal silencing of one copy of the X chromosome in XX females. May stimulate ubiquitination of histone H2A \'Lys-119\' by recruiting the complex to target sites (By similarity). Inhibits ubiquitination and subsequent degradation of TP53, and thereby plays a role in regulating transcription of TP53 target genes (PubMed:19098711). May also regulate the ubiquitin-mediated proteasomal degradation of other proteins like FANK1 to regulate apoptosis (PubMed:14765135, PubMed:27060496). May be implicated in the regulation of the transcription as a repressor of the transcriptional activity of E4TF1 (PubMed:11953439). May bind to DNA (By similarity). May play a role in the repression of tumor growth and metastasis in breast cancer by down-regulating SRRM3 (PubMed:27748911).',NULL,NULL,NULL,NULL,NULL),(3638,'UniProt Function',NULL,4578,NULL,'May play a role in polarized cells by carrying out serosal-to-mucosal zinc transport. Plays a role in eye development. Could regulate the BMP/TGF-beta (bone morphogenetic protein/transforming growth factor-beta) signaling pathway and modulates extracellular matrix (ECM) proteins of the sclera (PubMed:24891338). Seems to play a central role in controlling organismal zinc status (By similarity).',NULL,NULL,NULL,NULL,NULL),(3639,'UniProt Function',NULL,4580,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(3640,'UniProt Function',NULL,4581,NULL,'Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate.',NULL,NULL,NULL,NULL,NULL),(3641,'UniProt Function',NULL,4582,NULL,'Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate.',NULL,NULL,NULL,NULL,NULL),(3642,'UniProt Function',NULL,4583,NULL,'Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognizes their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity).',NULL,NULL,NULL,NULL,NULL),(3643,'UniProt Function',NULL,4585,NULL,'May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes.',NULL,NULL,NULL,NULL,NULL),(3644,'UniProt Function',NULL,4587,NULL,'Required for the assembly and/or stability of the 40S ribosomal subunit. Required for the processing of the 20S rRNA-precursor to mature 18S rRNA in a late step of the maturation of 40S ribosomal subunits. Also functions as a cell surface receptor for laminin. Plays a role in cell adhesion to the basement membrane and in the consequent activation of signaling transduction pathways. May play a role in cell fate determination and tissue morphogenesis. Acts as a PPP1R16B-dependent substrate of PPP1CA.',NULL,NULL,NULL,NULL,NULL),(3645,'UniProt Function',NULL,4587,NULL,'(Microbial infection) Acts as a receptor for the Adeno-associated viruses 2,3,8 and 9.',NULL,NULL,NULL,NULL,NULL),(3646,'UniProt Function',NULL,4587,NULL,'(Microbial infection) Acts as a receptor for the Dengue virus.',NULL,NULL,NULL,NULL,NULL),(3647,'UniProt Function',NULL,4587,NULL,'(Microbial infection) Acts as a receptor for the Sindbis virus.',NULL,NULL,NULL,NULL,NULL),(3648,'UniProt Function',NULL,4587,NULL,'(Microbial infection) Acts as a receptor for the Venezuelan equine encephalitis virus.',NULL,NULL,NULL,NULL,NULL),(3649,'UniProt Function',NULL,4587,NULL,'(Microbial infection) Acts as a receptor for the pathogenic prion protein.',NULL,NULL,NULL,NULL,NULL),(3650,'UniProt Function',NULL,4587,NULL,'(Microbial infection) Acts as a receptor for bacteria.',NULL,NULL,NULL,NULL,NULL),(3651,'UniProt Function',NULL,4589,NULL,'Plays a role in the generation of neuronal polarity formation and axon growth (By similarity). Implicated in the formation of a single axon by developing neurons (By similarity). May inhibit the formation of additional axons by inhibition of PI3K in minor neuronal processes (By similarity). Plays a role in the formation of F-actin-enriched protrusive structures at the cell periphery (PubMed:25766321). Plays a role in cytoskeletal organization by regulating the subcellular localization of FSCN1 and DBN1 at axonal growth cones (By similarity). Promotes gastric cancer cell migration and invasion in a PAK1-dependent manner (PubMed:25766321).',NULL,NULL,NULL,NULL,NULL),(3652,'UniProt Function',NULL,4590,NULL,'ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.',NULL,NULL,NULL,NULL,NULL),(3653,'UniProt Function',NULL,4592,NULL,'Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (5\' to 3\') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity.',NULL,NULL,NULL,NULL,NULL),(3654,'UniProt Function',NULL,4592,NULL,'Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.',NULL,NULL,NULL,NULL,NULL),(3655,'UniProt Function',NULL,4592,NULL,'Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.',NULL,NULL,NULL,NULL,NULL),(3656,'UniProt Function',NULL,4592,NULL,'Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. May also inhibit the transcriptional activity of ATF2.',NULL,NULL,NULL,NULL,NULL),(3657,'UniProt Function',NULL,4592,NULL,'Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway where it negatively regulates expression of ER stress response genes.',NULL,NULL,NULL,NULL,NULL),(3658,'UniProt Function',NULL,4593,NULL,'High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol.',NULL,NULL,NULL,NULL,NULL),(3659,'UniProt Function',NULL,4594,NULL,'Sodium-phosphate symporter which seems to play a fundamental housekeeping role in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. In vitro, sodium-dependent phosphate uptake is not siginificantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants.',NULL,NULL,NULL,NULL,NULL),(3660,'UniProt Function',NULL,4595,NULL,'May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes such as the reorganization of the actin cytoskeleton and in cell motility. Binds 2 calcium ions. Calcium binding is cooperative.',NULL,NULL,NULL,NULL,NULL),(3661,'UniProt Function',NULL,4596,NULL,'Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity.',NULL,NULL,NULL,NULL,NULL),(3662,'UniProt Function',NULL,4597,NULL,'Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia (By similarity). Isoform 4 has no transport activity.',NULL,NULL,NULL,NULL,NULL),(3663,'UniProt Function',NULL,4601,NULL,'Required for assembly of regular nucleosome arrays by the RSF chromatin-remodeling complex (PubMed:12972596). Facilitates transcription of hepatitis B virus (HBV) genes by the pX transcription activator. In case of infection by HBV, together with pX, it represses TNF-alpha induced NF-kappa-B transcription activation. Represses transcription when artificially recruited to chromatin by fusion to a heterogeneous DNA binding domain (PubMed:11944984, PubMed:11788598).',NULL,NULL,NULL,NULL,NULL),(3664,'UniProt Function',NULL,4602,NULL,'Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia.',NULL,NULL,NULL,NULL,NULL),(3665,'UniProt Function',NULL,4603,NULL,'Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (PubMed:21909076, PubMed:21727895, PubMed:22615920). During embryonic development, plays a crucial role in limb specification, amplifying the Wnt signaling pathway independently of LGR4-6 receptors, possibly by acting as a direct antagonistic ligand to RNF43 and ZNRF3, hence governing the number of limbs an embryo should form (PubMed:29769720).',NULL,NULL,NULL,NULL,NULL),(3666,'UniProt Function',NULL,4604,NULL,'Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (PubMed:9278442, PubMed:18029264, PubMed:18272479). When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages (PubMed:15851690). Catalyzes the synthesis of the signaling molecule diadenosine tetraphosphate (Ap4A), and thereby mediates disruption of the complex between HINT1 and MITF and the concomitant activation of MITF transcriptional activity (PubMed:5338216, PubMed:14975237, PubMed:19524539, PubMed:23159739).',NULL,NULL,NULL,NULL,NULL),(3667,'UniProt Function',NULL,4604,NULL,'(Microbial infection) Interacts with HIV-1 virus GAG protein, facilitating the selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation.',NULL,NULL,NULL,NULL,NULL),(3668,'UniProt Function',NULL,4606,NULL,'Potentially plays a role in the Ras signal transduction pathway. Capable of suppressing v-Ras transformation in vitro.',NULL,NULL,NULL,NULL,NULL),(3669,'UniProt Function',NULL,4608,NULL,'Plays an essential role in capillaries endothelial cells for the maintenance of feto-maternal interface and for development of the placenta.',NULL,NULL,NULL,NULL,NULL),(3670,'UniProt Function',NULL,4610,NULL,'Developmental neurite growth regulatory factor with a role as a negative regulator of axon-axon adhesion and growth, and as a facilitator of neurite branching. Regulates neurite fasciculation, branching and extension in the developing nervous system. Involved in down-regulation of growth, stabilization of wiring and restriction of plasticity in the adult CNS. Regulates the radial migration of cortical neurons via an RTN4R-LINGO1 containing receptor complex (By similarity). Isoform 2 reduces the anti-apoptotic activity of Bcl-xl and Bcl-2. This is likely consecutive to their change in subcellular location, from the mitochondria to the endoplasmic reticulum, after binding and sequestration. Isoform 2 and isoform 3 inhibit BACE1 activity and amyloid precursor protein processing. Induces the formation and stabilization of endoplasmic reticulum (ER) tubules (PubMed:25612671, PubMed:24262037, PubMed:27619977). Regulates membrane morphogenesis in the ER by promoting tubular ER production (PubMed:27619977). Influences NE expansion, nuclear pore complex formation and proper localization of inner nuclear membrane proteins (PubMed:26906412).',NULL,NULL,NULL,NULL,NULL),(3671,'UniProt Function',NULL,4611,NULL,'May act as an effector of RAP2A in neuronal cells.',NULL,NULL,NULL,NULL,NULL),(3672,'UniProt Function',NULL,4613,NULL,'Involved in cognitive function in the brain, possibly via the noradrenergic system.',NULL,NULL,NULL,NULL,NULL),(3673,'UniProt Function',NULL,4615,NULL,'RNA-binding component of the mitochondrial small ribosomal subunit (mt-SSU) that plays a role in mitochondrial protein synthesis (PubMed:22841715). Stimulates mitochondrial mRNA translation of subunit components of the mitochondrial electron transport chain (PubMed:22841715). Binds to the mitochondrial 12S rRNA (12S mt-rRNA) and tRNA(Glu) (PubMed:22841715). Involved also in positive regulation of cell proliferation and tumor cell growth (PubMed:28714366).',NULL,NULL,NULL,NULL,NULL),(3674,'UniProt Function',NULL,4616,NULL,'Catalytic subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3\',5\'-phosphodiester. May act as an RNA ligase with broad substrate specificity, and may function toward other RNAs.',NULL,NULL,NULL,NULL,NULL),(3675,'UniProt Function',NULL,4617,NULL,'Specifically promotes functional cell surface expression of olfactory receptors, but not of other GPCRs.',NULL,NULL,NULL,NULL,NULL),(3676,'UniProt Function',NULL,4624,NULL,'Mediates transcriptional and post-transcriptional regulation of SLC5A1. Inhibits a dynamin and PKC-dependent exocytotic pathway of SLC5A1. Also involved in transcriptional regulation of SLC22A2. Exhibits glucose-dependent, short-term inhibition of SLC5A1 and SLC22A2 by inhibiting the release of vesicles from the trans-Golgi network.',NULL,NULL,NULL,NULL,NULL),(3677,'UniProt Function',NULL,4626,NULL,'May be involved in tissue-specific alternative RNA processing events.',NULL,NULL,NULL,NULL,NULL),(3678,'UniProt Function',NULL,4627,NULL,'Required for mitoribosome formation and stability, and mitochondrial translation.',NULL,NULL,NULL,NULL,NULL),(3679,'UniProt Function',NULL,4632,NULL,'Plays a role in the regulation of retinal ganglion cell (RGC) neurite outgrowth, and hence in the development of the inner retina and optic nerve. Appears to be a potent inhibitor of regeneration following spinal cord injury.',NULL,NULL,NULL,NULL,NULL),(3680,'UniProt Function',NULL,4633,NULL,'RNA-binding protein involved in modulation of mRNA transcription by Polymerase II (PubMed:16950395). Component of the tRNA-splicing ligase complex and is required for tRNA ligation (PubMed:24870230). May be required for RNA transport (PubMed:24608264).',NULL,NULL,NULL,NULL,NULL),(3681,'UniProt Function',NULL,4633,NULL,'(Microbial infection) In case of infection by influenza virus A (IVA), is involved in viral replication (PubMed:21900157).',NULL,NULL,NULL,NULL,NULL),(3682,'UniProt Function',NULL,4635,NULL,'Inhibits PIK3C3 activity; under basal conditions negatively regulates PI3K complex II (PI3KC3-C2) function in autophagy. Negatively regulates endosome maturation and degradative endocytic trafficking and impairs autophagosome maturation process. Can sequester UVRAG from association with a class C Vps complex (possibly the HOPS complex) and negatively regulates Rab7 activation (PubMed:20974968, PubMed:21062745).',NULL,NULL,NULL,NULL,NULL),(3683,'UniProt Function',NULL,4635,NULL,'Involved in regulation of pathogen-specific host defense of activated macrophages. Following bacterial infection promotes NADH oxidase activity by association with CYBA thereby affecting TLR2 signaling and probably other TLR-NOX pathways. Stabilizes the CYBA:CYBB NADPH oxidase heterodimer, increases its association with TLR2 and its phagosome trafficking to induce antimicrobial burst of ROS and production of inflammatory cytokines (PubMed:22423966). Following fungal or viral infection (implicating CLEC7A (dectin-1)-mediated myeloid cell activation or DDX58/RIG-I-dependent sensing of RNA viruses) negatively regulates pro-inflammatory cytokine production by association with CARD9 and sequestering it from signaling complexes (PubMed:22423967).',NULL,NULL,NULL,NULL,NULL),(3684,'UniProt Function',NULL,4636,NULL,'Promotes functional cell surface expression of the bitter taste receptors TAS2R16 and TAS2R43.',NULL,NULL,NULL,NULL,NULL),(3685,'UniProt Function',NULL,4637,NULL,'Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development.',NULL,NULL,NULL,NULL,NULL),(3686,'UniProt Function',NULL,4638,NULL,'Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity).',NULL,NULL,NULL,NULL,NULL),(3687,'UniProt Function',NULL,4639,NULL,'Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilize the transcripts and minimize tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs (PubMed:19099192). Forms hnRNP particles with at least 20 other different hnRNP and heterogeneous nuclear RNA in the nucleus. Involved in transport of specific mRNAs to the cytoplasm in oligodendrocytes and neurons: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) or the A2RE11 (derivative 11 nucleotide oligonucleotide) sequence motifs present on some mRNAs, and promotes their transport to the cytoplasm (PubMed:10567417). Specifically binds single-stranded telomeric DNA sequences, protecting telomeric DNA repeat against endonuclease digestion (By similarity). Also binds other RNA molecules, such as primary miRNA (pri-miRNAs): acts as a nuclear \'reader\' of the N6-methyladenosine (m6A) mark by specifically recognizing and binding a subset of nuclear m6A-containing pri-miRNAs. Binding to m6A-containing pri-miRNAs promotes pri-miRNA processing by enhancing binding of DGCR8 to pri-miRNA transcripts (PubMed:26321680). Involved in miRNA sorting into exosomes following sumoylation, possibly by binding (m6A)-containing pre-miRNAs (PubMed:24356509). Acts as a regulator of efficiency of mRNA splicing, possibly by binding to m6A-containing pre-mRNAs (PubMed:26321680).',NULL,NULL,NULL,NULL,NULL),(3688,'UniProt Function',NULL,4639,NULL,'(Microbial infection) Involved in the transport of HIV-1 genomic RNA out of the nucleus, to the microtubule organizing center (MTOC), and then from the MTOC to the cytoplasm: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) sequence motifs present on HIV-1 genomic RNA, and promotes its transport.',NULL,NULL,NULL,NULL,NULL),(3689,'UniProt Function',NULL,4640,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB7 is part of a subcomplex with RPB4 that binds to a pocket formed by RPB1, RPB2 and RPB6 at the base of the clamp element. The RBP4-RPB7 subcomplex seems to lock the clamp via RPB7 in the closed conformation thus preventing double-stranded DNA to enter the active site cleft. The RPB4-RPB7 subcomplex binds single-stranded DNA and RNA (By similarity). Binds RNA.',NULL,NULL,NULL,NULL,NULL),(3690,'UniProt Function',NULL,4641,NULL,'Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells (By similarity). Acts as a potential RAB3B effector protein in epithelial cells.',NULL,NULL,NULL,NULL,NULL),(3691,'UniProt Function',NULL,4642,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters.',NULL,NULL,NULL,NULL,NULL),(3692,'UniProt Function',NULL,4646,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as UCKL1 (PubMed:16709802, PubMed:27485036). Involved in the cytolytic activity of natural killer cells and cytotoxic T-cells (PubMed:10438909). Protects against staurosporin-induced cell death (PubMed:27485036).',NULL,NULL,NULL,NULL,NULL),(3693,'UniProt Function',NULL,4647,NULL,'E3 ubiquitin-protein ligase component of the LUBAC complex which conjugates linear (\'Met-1\'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation (PubMed:17006537, PubMed:19136968, PubMed:20005846, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:22863777, PubMed:28189684). LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways (PubMed:17006537, PubMed:19136968, PubMed:20005846, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:22863777, PubMed:28189684). Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation (PubMed:21455173, PubMed:28189684). LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex (PubMed:20005846, PubMed:27458237). Together with OTULIN, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis (PubMed:23708998). Binds polyubiquitin of different linkage types (PubMed:23708998).',NULL,NULL,NULL,NULL,NULL),(3694,'UniProt Function',NULL,4648,NULL,'E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis (PubMed:15069192). May mediate \'Lys-48\'-linked polyubiquitination of RIPK1 and its subsequent proteasomal degradation thereby indirectly regulating the tumor necrosis factor-mediated signaling pathway (Ref.13). Negatively regulates p53/TP53 through its direct ubiquitination and targeting to proteasomal degradation (PubMed:17121812). Indirectly, may also negatively regulate p53/TP53 through ubiquitination and degradation of SFN (PubMed:18382127). Mediates PPARGC1A proteasomal degradation probably through ubiquitination thereby indirectly regulating the metabolism of brown fat cells (PubMed:22064484). Possibly involved in innate immunity, through \'Lys-48\'-linked polyubiquitination of NOD1 and its subsequent proteasomal degradation (PubMed:25012219).',NULL,NULL,NULL,NULL,NULL),(3695,'UniProt Function',NULL,4649,NULL,'Has ribonuclease activity, with higher activity at acidic pH. Probably is involved in lysosomal degradation of ribosomal RNA (By similarity). Probably plays a role in cellular RNA catabolism.',NULL,NULL,NULL,NULL,NULL),(3696,'UniProt Function',NULL,4650,NULL,'Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.',NULL,NULL,NULL,NULL,NULL),(3697,'UniProt Function',NULL,4650,NULL,'60S ribosomal protein L40: Component of the 60S subunit of the ribosome. Ribosomal protein L40 is essential for translation of a subset of cellular transcripts, and especially for cap-dependent translation of vesicular stomatitis virus mRNAs.',NULL,NULL,NULL,NULL,NULL),(3698,'UniProt Function',NULL,4652,NULL,'Together with thiosulfate sulfurtransferase (TST), acts as a mitochondrial import factor for the cytosolic 5S rRNA. The precursor form shows RNA chaperone activity; is able to fold the 5S rRNA into an import-competent conformation that is recognized by rhodanese (TST). Both the cytoplasmic and mitochondrial forms are able to bind to the helix IV-loop D in the gamma domain of the 5S rRNA.',NULL,NULL,NULL,NULL,NULL),(3699,'UniProt Function',NULL,4657,NULL,'Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). Catalytic activity of the complex is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972).',NULL,NULL,NULL,NULL,NULL),(3700,'UniProt Function',NULL,4658,NULL,'Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). Catalytic activity of the complex is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972).',NULL,NULL,NULL,NULL,NULL),(3701,'UniProt Function',NULL,4661,NULL,'May be involved in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(3702,'UniProt Function',NULL,4663,NULL,'May function in nuclear protein import as nuclear transport receptor.',NULL,NULL,NULL,NULL,NULL),(3703,'UniProt Function',NULL,4664,NULL,'Has E3 ubiquitin-protein ligase activity.',NULL,NULL,NULL,NULL,NULL),(3704,'UniProt Function',NULL,4667,NULL,'E3 ubiquitin-protein ligase that plays a key role in endosome organization by retaining vesicles in the perinuclear cloud (PubMed:27368102). Acts as a platform for perinuclear positioning of the endosomal system by mediating ubiquitination of SQSTM1 (PubMed:27368102). Ubiquitinated SQSTM1 attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102). Also acts as a regulator of type I interferon production in response to viral infection by mediating the formation of \'Lys-11\'-linked polyubiquitin chains on TMEM173/STING, leading to stabilize TMEM173/STING (PubMed:25254379). Also required to limit type I interferon response by promoting autophagic degradation of IRF3 (PubMed:25254379).',NULL,NULL,NULL,NULL,NULL),(3705,'UniProt Function',NULL,4668,NULL,'May play a role in sperm formation.',NULL,NULL,NULL,NULL,NULL),(3706,'UniProt Function',NULL,4669,NULL,'Acts as an E3 ubiquitin-protein ligase able to ubiquitinate p53/TP53 which promotes its relocalization to discrete foci associated with PML nuclear bodies. Exhibits preference for UBE2D2 as a E2 enzyme.',NULL,NULL,NULL,NULL,NULL),(3707,'UniProt Function',NULL,4670,NULL,'Transcriptional factor involved in the regulation of MAG (Myelin-associated glycoprotein) expression. Acts as a regulator of Schwann cell differentiation and myelination.',NULL,NULL,NULL,NULL,NULL),(3708,'UniProt Function',NULL,4672,NULL,'Might act as an E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates, which could be nuclear proteins. Could play a role as a coactivator for androgen- and, to a lesser extent, progesterone-dependent transcription.',NULL,NULL,NULL,NULL,NULL),(3709,'UniProt Function',NULL,4673,NULL,'Seems to be involved in regulation of transcriptional activity of MYC. In vitro, inhibits DNA-binding activity of Mad-MAX heterodimers. Can recruit Mad transcriptional repressors (MXD1, MXD3, MXD4 and MXI1) to the cytoplasm. May be involved in spermiogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(3710,'UniProt Function',NULL,4674,NULL,'Catalyzes the oxidation of the less abundant 1,2-dihydro-beta-NAD(P) and 1,6-dihydro-beta-NAD(P) to form beta-NAD(P)(+). The enzyme hormone is secreted by the kidney, and circulates in blood and modulates cardiac function and systemic blood pressure. Lowers blood pressure in vivo by decreasing cardiac contractility and heart rate and preventing a compensatory increase in peripheral vascular tone, suggesting a causal link to the increased plasma catecholamine and heightened cardiovascular risk. High concentrations of catecholamines activate plasma renalase and promotes its secretion and synthesis.',NULL,NULL,NULL,NULL,NULL),(3711,'UniProt Function',NULL,4679,NULL,'Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability.',NULL,NULL,NULL,NULL,NULL),(3712,'UniProt Function',NULL,4680,NULL,'E3 ubiquitin ligase that catalyzes the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. In response to bacterial infection, negatively regulates the phagocyte oxidative burst by controlling the turnover of the NADPH oxidase complex subunits. Promotes monoubiquitination of CYBA and \'Lys-48\'-linked polyubiquitination and degradation of CYBB NADPH oxidase catalytic subunits, both essential for the generation of antimicrobial reactive oxygen species. Involved in the maintenance of cholesterol homeostasis. In response to high sterol concentrations ubiquitinates HMGCR, a rate-limiting enzyme in cholesterol biosynthesis, and targets it for degradation. The interaction with INSIG1 is required for this function. In addition, triggers ubiquitination of SCAP, likely inhibiting its transport to the Golgi apparatus and the subsequent processing/maturation of SREBPF2, ultimately downregulating cholesterol biosynthesis.',NULL,NULL,NULL,NULL,NULL),(3713,'UniProt Function',NULL,4681,NULL,'E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development. During embryonic development initiates neuronal differentiation by inducing cell cycle arrest at the G0/G1 phase through up-regulation of cell-cycle regulatory proteins (PubMed:28684796). Plays a role not only in the fetal period during the development of the nervous system, but also in the adult brain, where it is involved in the maintenance of neural functions and protection of the nervous tissue cells from oxidative stress-induced damage. Exhibits GTPase and E3 ubiquitin-protein ligase activities. Regulates dendritic spine density and synaptic neurotransmission; its ability to hydrolyze GTP is involved in the maintenance of dendritic spine density (By similarity).',NULL,NULL,NULL,NULL,NULL),(3714,'UniProt Function',NULL,4683,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(3715,'UniProt Function',NULL,4684,NULL,'Does not exhibit any ribonuclease activity.',NULL,NULL,NULL,NULL,NULL),(3716,'UniProt Function',NULL,4686,NULL,'E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of SIN3B (By similarity). Independently of its E3 ligase activity, acts as a CTNNB1 stabilizer through USP7-mediated deubiquitination of CTNNB1 promoting Wnt signaling (PubMed:25266658).',NULL,NULL,NULL,NULL,NULL),(3717,'UniProt Function',NULL,4687,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination oF target proteins (PubMed:23277564, PubMed:24275455, PubMed:24981174). Depending on the associated E2 ligase, mediates \'Lys-48\'- and \'Lys-63\'-linked polyubiquitination of substrates (By similarity). Part of a BAG6-dependent quality control process ensuring that proteins of the secretory pathway that are mislocalized to the cytosol are degraded by the proteasome. Probably acts by providing the ubiquitin ligase activity associated with the BAG6 complex and be responsible for ubiquitination of the hydrophobic mislocalized proteins and their targeting to the proteasome (PubMed:24981174, PubMed:29042515). May also play a role in the endosomal recycling of IGF2R, the cation-independent mannose-6-phosphate receptor (PubMed:24275455). May play a role in the endosomal sorting and degradation of several membrane receptors including EGFR, FLT3, MET and CXCR4, by mediating their ubiquitination (PubMed:23418353). By ubiquitinating CDKN1A/p21 and targeting it for degradation, may also promote cell proliferation (PubMed:23026136). May monoubiquitinate AICDA (PubMed:23277564).',NULL,NULL,NULL,NULL,NULL),(3718,'UniProt Function',NULL,4688,NULL,'Lacks intrinsic GTPase activity. Has a low affinity for GDP, and constitutively binds GTP. Controls rearrangements of the actin cytoskeleton. Induces the Rac-dependent neuritic process formation in part by disruption of the cortical actin filaments. Causes the formation of many neuritic processes from the cell body with disruption of the cortical actin filaments.',NULL,NULL,NULL,NULL,NULL),(3719,'UniProt Function',NULL,4689,NULL,'May play a role in prolonged long term-potentiation (LTP) maintenance.',NULL,NULL,NULL,NULL,NULL),(3720,'UniProt Function',NULL,4691,NULL,'Plays an important role in the elongation step of protein synthesis.',NULL,NULL,NULL,NULL,NULL),(3721,'UniProt Function',NULL,4692,NULL,'Ribosomal protein P0 is the functional equivalent of E.coli protein L10.',NULL,NULL,NULL,NULL,NULL),(3722,'UniProt Function',NULL,4694,NULL,'E3 ubiquitin-protein ligase that mediates the ubiquitination of ATP6V0C and targets it to degradation via the ubiquitin-proteasome pathway.',NULL,NULL,NULL,NULL,NULL),(3723,'UniProt Function',NULL,4695,NULL,'RNA-binding protein which may be involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(3724,'UniProt Function',NULL,4697,NULL,'E3 ubiquitin-protein ligase that regulates selective mitochondrial autophagy by mediating \'Lys-63\'-linked polyubiquitination of BNIP1 (PubMed:21931693). Acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation (PubMed:27485036). Protects cells from ER stress-induced apoptosis (PubMed:27485036). Responsible for the cotranslational ubiquitination and degradation of CFTR in the ERAD pathway (PubMed:24019521). Preferentially associates with the E2 enzymes UBE2J1 and UBE2J2 (PubMed:24019521).',NULL,NULL,NULL,NULL,NULL),(3725,'UniProt Function',NULL,4699,NULL,'Involved in gene transcription regulation. Acts as a transcriptional repressor in concert with the corepressor UXT to regulate androgen receptor (AR) transcription. May act as a tumor suppressor to repress AR-mediated gene transcription and to inhibit anchorage-independent growth in prostate cancer cells. Required for cell survival in ovarian cancer cells. Together with UXT, associates with chromatin to the NKX3-1 promoter region. Antagonizes transcriptional modulation via hepatitis B virus X protein.',NULL,NULL,NULL,NULL,NULL),(3726,'UniProt Function',NULL,4699,NULL,'Plays a central role in maintaining S6K1 signaling and BAD phosphorylation under normal growth conditions thereby protecting cells from potential deleterious effects of sustained S6K1 signaling. The URI1-PPP1CC complex acts as a central component of a negative feedback mechanism that counteracts excessive S6K1 survival signaling to BAD in response to growth factors. Mediates inhibition of PPP1CC phosphatase activity in mitochondria. Coordinates the regulation of nutrient-sensitive gene expression availability in a mTOR-dependent manner. Seems to be a scaffolding protein able to assemble a prefoldin-like complex that contains PFDs and proteins with roles in transcription and ubiquitination.',NULL,NULL,NULL,NULL,NULL),(3727,'UniProt Function',NULL,4700,NULL,'E3 ubiquitin-protein ligase involved in DNA damage response by promoting DNA resection and homologous recombination (PubMed:26502055, PubMed:26502057). Recruited to sites of double-strand breaks following DNA damage and specifically promotes double-strand break repair via homologous recombination (PubMed:26502055, PubMed:26502057). Two different, non-exclusive, mechanisms have been proposed. According to a report, regulates the choice of double-strand break repair by favoring homologous recombination over non-homologous end joining (NHEJ): acts by mediating ubiquitination of XRCC5/Ku80, leading to remove the Ku complex from DNA breaks, thereby promoting homologous recombination (PubMed:26502055). According to another report, cooperates with UBE2Ds E2 ubiquitin ligases (UBE2D1, UBE2D2, UBE2D3 or UBE2D4) to promote homologous recombination by mediating ubiquitination of RBBP8/CtIP (PubMed:26502057). Together with NLK, involved in the ubiquitination and degradation of TCF/LEF (PubMed:16714285). Also exhibits auto-ubiquitination activity in combination with UBE2K (PubMed:16714285). May act as a negative regulator in the Wnt/beta-catenin-mediated signaling pathway (PubMed:16714285).',NULL,NULL,NULL,NULL,NULL),(3728,'UniProt Function',NULL,4701,NULL,'E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A ubiquitination, promoting the formation of \'Lys-63\'-linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1. Also recruited at DNA interstrand cross-links (ICLs) sites and promotes accumulation of \'Lys-63\'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. Following DNA damage, promotes the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF8, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites. Not able to initiate \'Lys-63\'-linked ubiquitination in vitro; possibly due to partial occlusion of the UBE2N/UBC13-binding region. Catalyzes monoubiquitination of \'Lys-13\' and \'Lys-15\' of nucleosomal histone H2A (H2AK13Ub and H2AK15Ub, respectively).',NULL,NULL,NULL,NULL,NULL),(3729,'UniProt Function',NULL,4702,NULL,'Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation.',NULL,NULL,NULL,NULL,NULL),(3730,'UniProt Function',NULL,4703,NULL,'E3 ubiquitin-protein ligase that acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation. Protects cells from ER stress-induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(3731,'UniProt Function',NULL,4704,NULL,'E3 ubiquitin-protein ligase mediating \'Lys-48\'-linked polyubiquitination of LIMK1 and its subsequent targeting to the proteasome for degradation. Negatively regulates axonal outgrowth through regulation of the LIMK1 turnover. Mediates \'Lys-6\' and \'Lys-27\'-linked polyubiquitination of AR/androgen receptor thereby modulating its transcriptional activity. May also bind DNA and function as a transcriptional regulator.',NULL,NULL,NULL,NULL,NULL),(3732,'UniProt Function',NULL,4710,NULL,'E3 ubiquitin-protein ligase that specifically binds poly-ADP-ribosylated (PARsylated) proteins and mediates their ubiquitination and subsequent degradation. May regulate many important biological processes, such as cell survival and DNA damage response. Acts as an activator of the Wnt signaling pathway by mediating the ubiquitination of PARsylated AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex. Acts in cooperation with tankyrase proteins (TNKS and TNKS2), which mediate PARsylation of target proteins AXIN1, AXIN2, BLZF1, CASC3, TNKS and TNKS2. Recognizes and binds tankyrase-dependent PARsylated proteins via its WWE domain and mediates their ubiquitination, leading to their degradation. Different ubiquitin linkage types have been observed: TNKS2 undergoes ubiquitination at \'Lys-48\' and \'Lys-63\', while AXIN1 is only ubiquitinated at \'Lys-48\'. May regulate TNKS and TNKS2 subcellular location, preventing aggregation at a centrosomal location. Neuroprotective protein. Protects the brain against N-methyl-D-aspartate (NMDA) receptor-mediated glutamate excitotoxicity and ischemia, by interfering with PAR-induced cell death, called parthanatos. Prevents nuclear translocation of AIFM1 in a PAR-binding dependent manner. Does not affect PARP1 activation (By similarity). Protects against cell death induced by DNA damaging agents, such as N-methyl-N-nitro-N-nitrosoguanidine (MNNG) and rescues cells from G1 arrest. Promotes cell survival after gamma-irradiation. Facilitates DNA repair.',NULL,NULL,NULL,NULL,NULL),(3733,'UniProt Function',NULL,4711,NULL,'This is a non-secretory ribonuclease. It is a pyrimidine specific nuclease with a slight preference for U. Cytotoxin and helminthotoxin. Selectively chemotactic for dendritic cells. Possesses a wide variety of biological activities.',NULL,NULL,NULL,NULL,NULL),(3734,'UniProt Function',NULL,4712,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins, such as DDX58/RIG-I, MAVS/IPS1, IFIH1/MDA5, JAK1 and p53/TP53 (PubMed:15843525, PubMed:17460044, PubMed:17643463, PubMed:26027934, PubMed:26471729, PubMed:25591766, PubMed:27411375). Acts as a negative regulator of type I interferon production by mediating ubiquitination of DDX58/RIG-I at \'Lys-181\', leading to DDX58/RIG-I degradation (PubMed:17460044, PubMed:26471729). Mediates ubiquitination and subsequent degradation of p53/TP53 (PubMed:25591766). Mediates ubiquitination and subsequent degradation of JAK1 (PubMed:26027934). Acts as a positive regulator of T-cell activation (PubMed:15843525).',NULL,NULL,NULL,NULL,NULL),(3735,'UniProt Function',NULL,4714,NULL,'May be specifically involved in neuronal and hepatic functions. Is a C3 toxin-insensitive member of the Rho subfamily (By similarity).',NULL,NULL,NULL,NULL,NULL),(3736,'UniProt Function',NULL,4717,NULL,'Involved in cellular calcium homeostasis regulation. May participate in differentiation and apoptosis of keratinocytes. Overexpression induces apoptosis.',NULL,NULL,NULL,NULL,NULL),(3737,'UniProt Function',NULL,4718,NULL,'Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome.',NULL,NULL,NULL,NULL,NULL),(3738,'UniProt Function',NULL,4720,NULL,'This RNase has marked specificity towards the 3\' side of uridine nucleotides.',NULL,NULL,NULL,NULL,NULL),(3739,'UniProt Function',NULL,4721,NULL,'SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May mediate sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination sites. Acts as a limiting factor for crossover designation and/or reinforcement and plays an antagonist role with CCNB1IP1/HEI10 in the regulation of meiotic recombination (By similarity).',NULL,NULL,NULL,NULL,NULL),(3740,'UniProt Function',NULL,4722,NULL,'E3 ubiquitin protein ligase that is part of an apoptotic signaling pathway activated by endoplasmic reticulum stress (PubMed:23896122). In that process, stimulates the expression of proteins specific of the unfolded protein response (UPR), ubiquitinates BNIP1 and regulates its localization to the mitochondrion and induces calcium release from the endoplasmic reticulum that ultimately leads to cell apoptosis (PubMed:23896122).',NULL,NULL,NULL,NULL,NULL),(3741,'UniProt Function',NULL,4723,NULL,'Acts as an E2-dependent E3 ubiquitin-protein ligase, involved in innate immune defense against viruses. Ubiquitinates DDX58 and is required for full activation of the DDX58 signaling resulting in interferon beta production.',NULL,NULL,NULL,NULL,NULL),(3742,'UniProt Function',NULL,4724,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NKD2 (By similarity). Stimulates transcription mediated by NF-kappa-B.',NULL,NULL,NULL,NULL,NULL),(3743,'UniProt Function',NULL,4725,NULL,'Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins.',NULL,NULL,NULL,NULL,NULL),(3744,'UniProt Function',NULL,4726,NULL,'Acts as E3 ubiquitin-protein ligase and regulates the degradation of target proteins. Polyubiquitinates MYD88. Negatively regulates MYD88-dependent production of proinflammatory cytokines. Can promote TRIF-dependent production of type I interferon and inhibits infection with vesicular stomatitis virus (By similarity). Promotes also activation of TBK1 and IRF3. Involved in the ubiquitination of erythropoietin (EPO) and interleukin-3 (IL-3) receptors. Thus, through maintaining basal levels of cytokine receptors, RNF41 is involved in the control of hematopoietic progenitor cell differentiation into myeloerythroid lineages (By similarity). Contributes to the maintenance of steady-state ERBB3 levels by mediating its growth factor-independent degradation. Involved in the degradation of the inhibitor of apoptosis BIRC6 and thus is an important regulator of cell death by promoting apoptosis. Acts also as a PRKN modifier that accelerates its degradation, resulting in a reduction of PRKN activity, influencing the balance of intracellular redox state. The RNF41-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control (PubMed:24949970).',NULL,NULL,NULL,NULL,NULL),(3745,'UniProt Function',NULL,4727,NULL,'Plays an important role in the elongation step of protein synthesis.',NULL,NULL,NULL,NULL,NULL),(3746,'UniProt Function',NULL,4731,NULL,'Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM.',NULL,NULL,NULL,NULL,NULL),(3747,'UniProt Function',NULL,4732,NULL,'E3 ubiquitin-protein ligase (PubMed:26656854). Required for mesoderm patterning during embryonic development (By similarity). Acts as an enhancer of the transcriptional responses of the SMAD2/SMAD3 effectors, which are activated downstream of BMP (PubMed:14657019, PubMed:16601693). Acts by mediating ubiquitination and degradation of SMAD inhibitors such as SMAD7, inducing their proteasomal degradation and thereby enhancing the transcriptional activity of TGF-beta and BMP (PubMed:14657019, PubMed:16601693). In addition to enhance transcription of SMAD2/SMAD3 effectors, also regulates their turnover by mediating their ubiquitination and subsequent degradation, coupling their activation with degradation, thereby ensuring that only effectors \'in use\' are degraded (By similarity). Activates SMAD3/SMAD4-dependent transcription by triggering signal-induced degradation of SNON isoform of SKIL (PubMed:17591695). Associates with UBE2D2 as an E2 enzyme (PubMed:22411132). Specifically binds polysumoylated chains via SUMO interaction motifs (SIMs) and mediates ubiquitination of sumoylated substrates (PubMed:23751493). Catalyzes \'Lys-63\'-linked ubiquitination of sumoylated XPC in response to UV irradiation, promoting nucleotide excision repair (PubMed:23751493). Mediates ubiquitination and degradation of sumoylated PML (By similarity). The regulation of the BMP-SMAD signaling is however independent of sumoylation and is not dependent of SUMO interaction motifs (SIMs) (By similarity).',NULL,NULL,NULL,NULL,NULL),(3748,'UniProt Function',NULL,4733,NULL,'E3 ubiquitin-protein ligase which promotes polyubiquitination and degradation by the proteasome pathway of ZIC2.',NULL,NULL,NULL,NULL,NULL),(3749,'UniProt Function',NULL,4734,NULL,'Has a low ribonuclease activity.',NULL,NULL,NULL,NULL,NULL),(3750,'UniProt Function',NULL,4735,NULL,'Catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Required for poly-ubiquitination and proteasome-mediated degradation of CDKN1B during G1 phase of the cell cycle.',NULL,NULL,NULL,NULL,NULL),(3751,'UniProt Function',NULL,4736,NULL,'Component of the large ribosomal subunit (PubMed:12962325). Binds to G-rich structures in 28S rRNA and in mRNAs. Plays a regulatory role in the translation apparatus; inhibits cell-free translation of mRNAs.',NULL,NULL,NULL,NULL,NULL),(3752,'UniProt Function',NULL,4737,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(3753,'UniProt Function',NULL,4738,NULL,'Associates with mitochondrial RNA polymerase to activate transcription.',NULL,NULL,NULL,NULL,NULL),(3754,'UniProt Function',NULL,4740,NULL,'Forms part of 2 intersubunit bridges in the assembled ribosome. Upon binding to MALSU1 intersubunit bridge formation is blocked, preventing ribosome formation and repressing translation (Probable).',NULL,NULL,NULL,NULL,NULL),(3755,'UniProt Function',NULL,4741,NULL,'Component of the mitochondrial ribosome large subunit (PubMed:28892042, PubMed:25838379, PubMed:25278503). Also involved in apoptosis and cell cycle (PubMed:16024796, PubMed:16256947). Enhances p53/TP53 stability, thereby contributing to p53/TP53-induced apoptosis in response to growth-inhibitory condition. Enhances p53/TP53 translocation to the mitochondria. Has the ability to arrest the cell cycle at the G1 phase, possibly by stabilizing the CDKN1A and CDKN1B (p27Kip1) proteins (PubMed:16024796).',NULL,NULL,NULL,NULL,NULL),(3756,'UniProt Function',NULL,4745,NULL,'Ribosomal protein P0 is the functional equivalent of E.coli protein L10.',NULL,NULL,NULL,NULL,NULL),(3757,'UniProt Function',NULL,4746,NULL,'Ribonuclease which shows a preference for the pyrimidines uridine and cytosine (PubMed:8836175, PubMed:27013146). Has potent antibacterial activity against a range of Gram-positive and Gram-negative bacteria, including P.aeruginosa, A.baumanii, M.luteus, S.aureus, E.faecalis, E.faecium, S.saprophyticus and E.coli (PubMed:25075772, PubMed:27089320). Causes loss of bacterial membrane integrity, and also promotes agglutination of Gram-negative bacteria (PubMed:27089320). Probably contributes to urinary tract sterility (PubMed:25075772). Bactericidal activity is independent of RNase activity (PubMed:27089320).',NULL,NULL,NULL,NULL,NULL),(3758,'UniProt Function',NULL,4750,NULL,'E3 ubiquitin-protein ligase mediating \'Lys-63\'-linked polyubiquitination of RRAGA in response to amino acid starvation. Thereby, regulates mTORC1 signaling and plays a role in the cellular response to amino acid availability (PubMed:25936802). Also mediates \'Lys-48\'-linked polyubiquitination of target proteins and their subsequent targeting to the proteasome for degradation. Induces apoptosis when overexpressed (PubMed:21203937).',NULL,NULL,NULL,NULL,NULL),(3759,'UniProt Function',NULL,4751,NULL,'mRNA-binding component of ribonucleosomes. Specifically binds AU-rich element (ARE)-containing mRNAs. Involved in post-transcriptional regulation of cytokines mRNAs.',NULL,NULL,NULL,NULL,NULL),(3760,'UniProt Function',NULL,4752,NULL,'Protein phosphatase that displays CTD phosphatase activity and regulates transcription of snRNA genes. Recognizes and binds phosphorylated \'Ser-7\' of the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and mediates dephosphorylation of \'Ser-5\' of the CTD, thereby promoting transcription of snRNA genes.',NULL,NULL,NULL,NULL,NULL),(3761,'UniProt Function',NULL,4753,NULL,'May be a component of ribonuclease P or MRP.',NULL,NULL,NULL,NULL,NULL),(3762,'UniProt Function',NULL,4754,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity).',NULL,NULL,NULL,NULL,NULL),(3763,'UniProt Function',NULL,4755,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity).',NULL,NULL,NULL,NULL,NULL),(3764,'UniProt Function',NULL,4757,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct with other members of the subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between TFIIIB and POLR3F. May be involved either in the recruitment and stabilization of the subcomplex within RNA polymerase III, or in stimulating catalytic functions of other subunits during initiation. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. Preferentially binds single-stranded DNA (ssDNA) in a sequence-independent manner (PubMed:21358628).',NULL,NULL,NULL,NULL,NULL),(3765,'UniProt Function',NULL,4758,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2E/RPB5 is part of the lower jaw surrounding the central large cleft and thought to grab the incoming DNA template. Seems to be the major component in this process (By similarity).',NULL,NULL,NULL,NULL,NULL),(3766,'UniProt Function',NULL,4759,NULL,'GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state.',NULL,NULL,NULL,NULL,NULL),(3767,'UniProt Function',NULL,4761,NULL,'E3 ubiquitin-protein ligase whose activity is dependent on E2 enzymes, UBE2D1, UBE2D2, UBE2E1 and UBE2E2. Forms a ubiquitin ligase complex in cooperation with the E2 UBE2D2 that is used not only for the ubiquitination of USP4 and IKBKB but also for its self-ubiquitination. Component of cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes such as SCF(SKP2)-like complexes. A TRIM21-containing SCF(SKP2)-like complex is shown to mediate ubiquitination of CDKN1B (\'Thr-187\' phosphorylated-form), thereby promoting its degradation by the proteasome. Monoubiquitinates IKBKB that will negatively regulates Tax-induced NF-kappa-B signaling. Negatively regulates IFN-beta production post-pathogen recognition by polyubiquitin-mediated degradation of IRF3. Mediates the ubiquitin-mediated proteasomal degradation of IgG1 heavy chain, which is linked to the VCP-mediated ER-associated degradation (ERAD) pathway. Promotes IRF8 ubiquitination, which enhanced the ability of IRF8 to stimulate cytokine genes transcription in macrophages. Plays a role in the regulation of the cell cycle progression. Enhances the decapping activity of DCP2. Exists as a ribonucleoprotein particle present in all mammalian cells studied and composed of a single polypeptide and one of four small RNA molecules. At least two isoforms are present in nucleated and red blood cells, and tissue specific differences in RO/SSA proteins have been identified. The common feature of these proteins is their ability to bind HY RNAs.2. Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1 and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy. Acts as an autophagy receptor for the degradation of IRF3, hence attenuating type I interferon (IFN)-dependent immune responses (PubMed:26347139).',NULL,NULL,NULL,NULL,NULL),(3768,'UniProt Function',NULL,4762,NULL,'Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(3769,'UniProt Function',NULL,4764,NULL,'Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5\'-AGGTCA-3\' preceded by a short A-T-rich sequence. Key regulator of embryonic development, cellular differentiation, immunity, circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectively. Recruits distinct combinations of cofactors to target genes regulatory regions to modulate their transcriptional expression, depending on the tissue, time and promoter contexts. Regulates genes involved in photoreceptor development including OPN1SW, OPN1SM and ARR3 and skeletal muscle development with MYOD1. Required for proper cerebellum development (PubMed:29656859). Regulates SHH gene expression, among others, to induce granule cells proliferation as well as expression of genes involved in calcium-mediated signal transduction. Regulates the circadian expression of several clock genes, including CLOCK, ARNTL/BMAL1, NPAS2 and CRY1. Competes with NR1D1 for binding to their shared DNA response element on some clock genes such as ARNTL/BMAL1, CRY1 and NR1D1 itself, resulting in NR1D1-mediated repression or RORA-mediated activation of clock genes expression, leading to the circadian pattern of clock genes expression. Therefore influences the period length and stability of the clock. Regulates genes involved in lipid metabolism such as apolipoproteins APOA1, APOA5, APOC3 and PPARG. In liver, has specific and redundant functions with RORC as positive or negative modulator of expression of genes encoding phase I and phase II proteins involved in the metabolism of lipids, steroids and xenobiotics, such as CYP7B1 and SULT2A1. Induces a rhythmic expression of some of these genes. In addition, interplays functionally with NR1H2 and NR1H3 for the regulation of genes involved in cholesterol metabolism. Also involved in the regulation of hepatic glucose metabolism through the modulation of G6PC and PCK1. In adipose tissue, plays a role as negative regulator of adipocyte differentiation, probably acting through dual mechanisms. May suppress CEBPB-dependent adipogenesis through direct interaction and PPARG-dependent adipogenesis through competition for DNA-binding. Downstream of IL6 and TGFB and synergistically with RORC isoform 2, is implicated in the lineage specification of uncommitted CD4(+) T-helper (T(H)) cells into T(H)17 cells, antagonizing the T(H)1 program. Probably regulates IL17 and IL17F expression on T(H) by binding to the essential enhancer conserved non-coding sequence 2 (CNS2) in the IL17-IL17F locus. Involved in hypoxia signaling by interacting with and activating the transcriptional activity of HIF1A. May inhibit cell growth in response to cellular stress. May exert an anti-inflammatory role by inducing CHUK expression and inhibiting NF-kappa-B signaling.',NULL,NULL,NULL,NULL,NULL),(3770,'UniProt Function',NULL,4765,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs.',NULL,NULL,NULL,NULL,NULL),(3771,'UniProt Function',NULL,4766,NULL,'Protein transport. Probably involved with Ras-related protein Rab-3A in synaptic vesicle traffic and/or synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal (By similarity).',NULL,NULL,NULL,NULL,NULL),(3772,'UniProt Function',NULL,4767,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(3773,'UniProt Function',NULL,4768,NULL,'Functions as a guanine nucleotide exchange factor (GEF), which activates Rap and Ras family of small GTPases by exchanging bound GDP for free GTP in a cAMP-dependent manner. Serves as a link between cell surface receptors and Rap/Ras GTPases in intracellular signaling cascades. Acts also as an effector for Rap1 by direct association with Rap1-GTP thereby leading to the amplification of Rap1-mediated signaling. Shows weak activity on HRAS. It is controversial whether RAPGEF2 binds cAMP and cGMP (PubMed:23800469, PubMed:10801446) or not (PubMed:10608844, PubMed:10548487, PubMed:11359771). Its binding to ligand-activated beta-1 adrenergic receptor ADRB1 leads to the Ras activation through the G(s)-alpha signaling pathway. Involved in the cAMP-induced Ras and Erk1/2 signaling pathway that leads to sustained inhibition of long term melanogenesis by reducing dendrite extension and melanin synthesis. Provides also inhibitory signals for cell proliferation of melanoma cells and promotes their apoptosis in a cAMP-independent nanner. Regulates cAMP-induced neuritogenesis by mediating the Rap1/B-Raf/ERK signaling through a pathway that is independent on both PKA and RAPGEF3/RAPGEF4. Involved in neuron migration and in the formation of the major forebrain fiber connections forming the corpus callosum, the anterior commissure and the hippocampal commissure during brain development. Involved in neuronal growth factor (NGF)-induced sustained activation of Rap1 at late endosomes and in brain-derived neurotrophic factor (BDNF)-induced axon outgrowth of hippocampal neurons. Plays a role in the regulation of embryonic blood vessel formation and in the establishment of basal junction integrity and endothelial barrier function. May be involved in the regulation of the vascular endothelial growth factor receptor KDR and cadherin CDH5 expression at allantois endothelial cell-cell junctions.',NULL,NULL,NULL,NULL,NULL),(3774,'UniProt Function',NULL,4769,NULL,'Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP.',NULL,NULL,NULL,NULL,NULL),(3775,'UniProt Function',NULL,4770,NULL,'Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5\'-ends.',NULL,NULL,NULL,NULL,NULL),(3776,'UniProt Function',NULL,4772,NULL,'E3 ubiquitin-protein ligase that mediates E2-dependent, \'Lys-48\'- and/or \'Lys-63\'-linked polyubiquitination of substrates and may play a role in diverse biological processes. Through their polyubiquitination, may play a role in the endosomal trafficking and degradation of membrane receptors including EGFR, FLT3, MET and CXCR4.',NULL,NULL,NULL,NULL,NULL),(3777,'UniProt Function',NULL,4773,NULL,'Acts as a E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:29507230). Triggers apoptosis in response to prolonged ER stress by mediating the polyubiquitination and subsequent proteasomal degradation of BCL2L1 (PubMed:29507230). May collaborate with FATE1 to restrain BIK protein levels thus regulating apoptotic signaling (PubMed:26567849).',NULL,NULL,NULL,NULL,NULL),(3778,'UniProt Function',NULL,4776,NULL,'Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway.',NULL,NULL,NULL,NULL,NULL),(3779,'UniProt Function',NULL,4777,NULL,'Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity.',NULL,NULL,NULL,NULL,NULL),(3780,'UniProt Function',NULL,4780,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity).',NULL,NULL,NULL,NULL,NULL),(3781,'UniProt Function',NULL,4781,NULL,'Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM, or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branch and in the ATR/MSH2 branch of S-phase checkpoint.',NULL,NULL,NULL,NULL,NULL),(3782,'UniProt Function',NULL,4782,NULL,'Destroys radicals which are normally produced within the cells and which are toxic to biological systems.',NULL,NULL,NULL,NULL,NULL),(3783,'UniProt Function',NULL,4784,NULL,'Required for efficient transcription initiation by RNA polymerase I. Required for the formation of the competent preinitiation complex (PIC). Dissociates from pol I as a consequence of transcription. In vitro, cannot activate transcription in a subsequent transcription reaction (By similarity).',NULL,NULL,NULL,NULL,NULL),(3784,'UniProt Function',NULL,4785,NULL,'Plays a critical role in the generation of 28S rRNA.',NULL,NULL,NULL,NULL,NULL),(3785,'UniProt Function',NULL,4786,NULL,'Protect the extracellular space from toxic effect of reactive oxygen intermediates by converting superoxide radicals into hydrogen peroxide and oxygen.',NULL,NULL,NULL,NULL,NULL),(3786,'UniProt Function',NULL,4788,NULL,'Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of DAPK3, GFAP, LIMK1, LIMK2, MYL9/MLC2, PFN1 and PPP1R12A. Phosphorylates FHOD1 and acts synergistically with it to promote SRC-dependent non-apoptotic plasma membrane blebbing. Phosphorylates JIP3 and regulates the recruitment of JNK to JIP3 upon UVB-induced stress. Acts as a suppressor of inflammatory cell migration by regulating PTEN phosphorylation and stability. Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation. Required for centrosome positioning and centrosome-dependent exit from mitosis. Plays a role in terminal erythroid differentiation. May regulate closure of the eyelids and ventral body wall by inducing the assembly of actomyosin bundles. Promotes keratinocyte terminal differentiation. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization.',NULL,NULL,NULL,NULL,NULL),(3787,'UniProt Function',NULL,4790,NULL,'Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation.',NULL,NULL,NULL,NULL,NULL),(3788,'UniProt Function',NULL,4791,NULL,'Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5\'-AGGTCA-3\' preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural ligands such as all-trans retinoic acid (ATRA) and other retinoids which act as inverse agonists repressing the transcriptional activity. Required for normal postnatal development of rod and cone photoreceptor cells. Modulates rod photoreceptors differentiation at least by inducing the transcription factor NRL-mediated pathway. In cone photoreceptor cells, regulates transcription of OPN1SW. Involved in the regulation of the period length and stability of the circadian rhythm. May control cytoarchitectural patterning of neocortical neurons during development. May act in a dose-dependent manner to regulate barrel formation upon innervation of layer IV neurons by thalamocortical axons. May play a role in the suppression of osteoblastic differentiation through the inhibition of RUNX2 transcriptional activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(3789,'UniProt Function',NULL,4791,NULL,'Isoform 1 is critical for hindlimb motor control and for the differentiation of amacrine and horizontal cells in the retina. Regulates the expression of PTF1A synergistically with FOXN4 (By similarity).',NULL,NULL,NULL,NULL,NULL),(3790,'UniProt Function',NULL,4792,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Appears to be involved in the formation of the initiation complex at the promoter by mediating the interaction between Pol I and UBTF/UBF (By similarity).',NULL,NULL,NULL,NULL,NULL),(3791,'UniProt Function',NULL,4793,NULL,'Orphan receptor tyrosine kinase (RTK) that plays a role in epithelial cell differentiation and regionalization of the proximal epididymal epithelium. May activate several downstream signaling pathways related to cell differentiation, proliferation, growth and survival including the PI3 kinase-mTOR signaling pathway. Mediates the phosphorylation of PTPN11, an activator of this pathway. May also phosphorylate and activate the transcription factor STAT3 to control anchorage-independent cell growth. Mediates the phosphorylation and the activation of VAV3, a guanine nucleotide exchange factor regulating cell morphology. May activate other downstream signaling proteins including AKT1, MAPK1, MAPK3, IRS1 and PLCG2.',NULL,NULL,NULL,NULL,NULL),(3792,'UniProt Function',NULL,4794,NULL,'Guanine nucleotide exchange factor (GEF) for RAP1A and RAP2A small GTPases that is activated by binding cAMP. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which it activates the PI3K gamma complex and which is involved in angiogenesis. Plays a role in the modulation of the cAMP-induced dynamic control of endothelial barrier function through a pathway that is independent on Rho-mediated signaling. Required for the actin rearrangement at cell-cell junctions, such as stress fibers and junctional actin.',NULL,NULL,NULL,NULL,NULL),(3793,'UniProt Function',NULL,4795,NULL,'Probable guanine nucleotide exchange factor (GEF).',NULL,NULL,NULL,NULL,NULL),(3794,'UniProt Function',NULL,4796,NULL,'May function in clathrin-mediated endocytosis. Has both a membrane binding/tubulating activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a preference for membranes enriched in phosphatidylserine and phosphoinositides and is required for the endocytosis of the transferrin receptor. May also bind tubulin. May play a role in the regulation of energy homeostasis.',NULL,NULL,NULL,NULL,NULL),(3795,'UniProt Function',NULL,4797,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB3 is part of the core element with the central large cleft and the clamp element that moves to open and close the cleft (By similarity).',NULL,NULL,NULL,NULL,NULL),(3796,'UniProt Function',NULL,4798,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively.',NULL,NULL,NULL,NULL,NULL),(3797,'UniProt Function',NULL,4799,NULL,'Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. Required for interaction of the RNA polymerase II complex with acetylated histone H3.',NULL,NULL,NULL,NULL,NULL),(3798,'UniProt Function',NULL,4800,NULL,'Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia.',NULL,NULL,NULL,NULL,NULL),(3799,'UniProt Function',NULL,4801,NULL,'Chromatin reader component of some histone acetyltransferase (HAT) SAGA-type complexes like the TFTC-HAT, ATAC or STAGA complexes (PubMed:19103755, PubMed:20850016, PubMed:26421618, PubMed:21685874, PubMed:26578293). SGF29 specifically recognizes and binds methylated \'Lys-4\' of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3) (PubMed:20850016, PubMed:26421618, PubMed:21685874, PubMed:26578293). In the SAGA-type complexes, SGF29 is required to recruit complexes to H3K4me (PubMed:20850016). Involved in the response to endoplasmic reticulum (ER) stress by recruiting the SAGA complex to H3K4me, thereby promoting histone H3 acetylation and cell survival (PubMed:23894581).',NULL,NULL,NULL,NULL,NULL),(3800,'UniProt Function',NULL,4802,NULL,'Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5\'-ends. RPP38 may associate transiently with RNase P RNA as a factor involved in the transport of H1 RNA to the putative site of its assembly in the cell, the nucleolus.',NULL,NULL,NULL,NULL,NULL),(3801,'UniProt Function',NULL,4803,NULL,'Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2. Transcriptional regulator which enhances expression of CCND1. Promotes binding of RNA polymerase II to the CCDN1 promoter and to the termination region before the poly-A site but decreases its binding after the poly-A site. Prevents RNA polymerase II from reading through the 3\' end termination site and may allow it to be recruited back to the promoter through promotion of the formation of a chromatin loop. Also enhances the transcription of a number of other cell cycle-related genes including CDK2, CDK4, CDK6 and cyclin-E but not CDKN1A, CDKN1B or cyclin-A. Promotes cell proliferation.',NULL,NULL,NULL,NULL,NULL),(3802,'UniProt Function',NULL,4804,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity).',NULL,NULL,NULL,NULL,NULL),(3803,'UniProt Function',NULL,4805,NULL,'DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Essential for efficient transcription from both the type 2 VAI and type 3 U6 RNA polymerase III promoters. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(3804,'UniProt Function',NULL,4806,NULL,'Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by binding cAMP. Seems not to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through interaction with RIMS2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(3805,'UniProt Function',NULL,4807,NULL,'GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state.',NULL,NULL,NULL,NULL,NULL),(3806,'UniProt Function',NULL,4808,NULL,'Part of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5\'-ends. May function with RPP38 to coordinate the nucleolar targeting and/or assembly of RNase P.',NULL,NULL,NULL,NULL,NULL),(3807,'UniProt Function',NULL,4809,NULL,'Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.',NULL,NULL,NULL,NULL,NULL),(3808,'UniProt Function',NULL,4810,NULL,'Core component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. Required for sister chromatid cohesion during prometaphase and mitotic progression; the function seems to be independent of SMC6. SMC5-SMC6 complex may prevent transcription of episomal DNA, such as circular viral DNA genome (PubMed:26983541).',NULL,NULL,NULL,NULL,NULL),(3809,'UniProt Function',NULL,4812,NULL,'Synthesizes selenophosphate from selenide and ATP.',NULL,NULL,NULL,NULL,NULL),(3810,'UniProt Function',NULL,4813,NULL,'Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(3811,'UniProt Function',NULL,4814,NULL,'Cross-linked envelope protein of keratinocytes.',NULL,NULL,NULL,NULL,NULL),(3812,'UniProt Function',NULL,4815,NULL,'Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase. Negatively regulates hematopoiesis of bone marrow (By similarity).',NULL,NULL,NULL,NULL,NULL),(3813,'UniProt Function',NULL,4816,NULL,'Could act as a modulator of transcription.',NULL,NULL,NULL,NULL,NULL),(3814,'UniProt Function',NULL,4817,NULL,'Could act as a modulator of transcription.',NULL,NULL,NULL,NULL,NULL),(3815,'UniProt Function',NULL,4818,NULL,'Could act as a modulator of transcription.',NULL,NULL,NULL,NULL,NULL),(3816,'UniProt Function',NULL,4819,NULL,'Could act as a modulator of transcription.',NULL,NULL,NULL,NULL,NULL),(3817,'UniProt Function',NULL,4820,NULL,'Could act as a modulator of transcription.',NULL,NULL,NULL,NULL,NULL),(3818,'UniProt Function',NULL,4821,NULL,'Could act as a modulator of transcription.',NULL,NULL,NULL,NULL,NULL),(3819,'UniProt Function',NULL,4822,NULL,'Constant region of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714).',NULL,NULL,NULL,NULL,NULL),(3820,'UniProt Function',NULL,4823,NULL,'D region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714).',NULL,NULL,NULL,NULL,NULL),(3821,'UniProt Function',NULL,4824,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of drugs, xenobiotic compounds, hormones, and neurotransmitters. May be involved in the activation of carcinogenic hydroxylamines. Shows activity towards p-nitrophenol and N-hydroxy-2-acetylamino-fluorene (N-OH-2AAF).',NULL,NULL,NULL,NULL,NULL),(3822,'UniProt Function',NULL,4826,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of drugs, xenobiotic compounds, hormones, and neurotransmitters. May be involved in the activation of carcinogenic hydroxylamines. Shows activity towards p-nitrophenol and N-hydroxy-2-acetylamino-fluorene (N-OH-2AAF).',NULL,NULL,NULL,NULL,NULL),(3823,'UniProt Function',NULL,4827,NULL,'Acts as a positive regulator of apoptosis. Also acts as a regulator of cellular reactive oxygen species.',NULL,NULL,NULL,NULL,NULL),(3824,'UniProt Function',NULL,4828,NULL,'V region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714).',NULL,NULL,NULL,NULL,NULL),(3825,'UniProt Function',NULL,4829,NULL,'May act as a tumor suppressor. Promotes apoptosis of cancer cells.',NULL,NULL,NULL,NULL,NULL),(3826,'UniProt Function',NULL,4830,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of thyroxine. Involved in the metabolism of thyroxine (By similarity).',NULL,NULL,NULL,NULL,NULL),(3827,'UniProt Function',NULL,4831,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Has also estrogen sulfotransferase activity. responsible for the sulfonation and activation of minoxidil. Is Mediates the metabolic activation of carcinogenic N-hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk.',NULL,NULL,NULL,NULL,NULL),(3828,'UniProt Function',NULL,4832,NULL,'May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(3829,'UniProt Function',NULL,4833,NULL,'Involved in the regulation of structural processes in differentiating and mature neuronal cells.',NULL,NULL,NULL,NULL,NULL),(3830,'UniProt Function',NULL,4836,NULL,'May play metabolic roles in sperm maturation or fertilization (By similarity). Phospholipid transfer protein that preferentially selects lipid species containing a palmitoyl or stearoyl chain on the sn-1 and an unsaturated fatty acyl chain (18:1 or 18:2) on the sn-2 position. Able to transfer phosphatidylcholine (PC) and phosphatidyetanolamline (PE) between membranes.',NULL,NULL,NULL,NULL,NULL),(3831,'UniProt Function',NULL,4837,NULL,'Acts as a scavenger receptor for acetylated low density lipoprotein. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. When inhibited in endothelial tube formation assays, there is a marked decrease in cell-cell interactions, suggesting a role in angiogenesis. Involved in the delivery of newly synthesized CHID1/SI-CLP from the biosynthetic compartment to the endosomal/lysosomal system.',NULL,NULL,NULL,NULL,NULL),(3832,'UniProt Function',NULL,4838,NULL,'Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis.',NULL,NULL,NULL,NULL,NULL),(3833,'UniProt Function',NULL,4839,NULL,'Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis.',NULL,NULL,NULL,NULL,NULL),(3834,'UniProt Function',NULL,4840,NULL,'Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels (PubMed:23736855, PubMed:29078335). Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membrane (By similarity). Slows down the inactivation rate of the calcium channel CACNA1C (PubMed:29078335).',NULL,NULL,NULL,NULL,NULL),(3835,'UniProt Function',NULL,4841,NULL,'Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes.',NULL,NULL,NULL,NULL,NULL),(3836,'UniProt Function',NULL,4842,NULL,'In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a positive feedback loop by increasing the activity of TEC.',NULL,NULL,NULL,NULL,NULL),(3837,'UniProt Function',NULL,4843,NULL,'Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors (PubMed:10688651, PubMed:12359225, PubMed:12873986, PubMed:15194700, PubMed:17344214, PubMed:18242580, PubMed:23084476). Once activated, recruits coactivators, such as NCOA1 or MED1, to the promoter region of the target gene (PubMed:17344214). May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4 (PubMed:12873986). Binds to the interleukin-6 (IL-6)-responsive elements identified in the promoters of various acute-phase protein genes (PubMed:12359225). Activated by IL31 through IL31RA (PubMed:15194700). Acts as a regulator of inflammatory response by regulating differentiation of naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells (Treg): deacetylation and oxidation of lysine residues by LOXL3, leads to disrupt STAT3 dimerization and inhibit its transcription activity (PubMed:28065600). Involved in cell cycle regulation by inducing the expression of key genes for the progression from G1 to S phase, such as CCND1 (PubMed:17344214). Mediates the effects of LEP on melanocortin production, body energy homeostasis and lactation (By similarity). May play an apoptotic role by transctivating BIRC5 expression under LEP activation (PubMed:18242580). Cytoplasmic STAT3 represses macroautophagy by inhibiting EIF2AK2/PKR activity (PubMed:23084476). Plays a crucial role in basal beta cell functions, such as regulation of insulin secretion (By similarity).',NULL,NULL,NULL,NULL,NULL),(3838,'UniProt Function',NULL,4844,NULL,'Oxidant stress-activated serine/threonine kinase that may play a role in the response to environmental stress. Targets to the Golgi apparatus where it appears to regulate protein transport events, cell adhesion, and polarity complexes important for cell migration.',NULL,NULL,NULL,NULL,NULL),(3839,'UniProt Function',NULL,4845,NULL,'Acts as a regulator of store-operated Ca(2+) entry (SOCE) at junctional sites that connect the endoplasmic reticulum (ER) and plasma membrane (PM), called ER-plasma membrane (ER-PM) junction or cortical ER (PubMed:26322679, PubMed:26644574). SOCE is a Ca(2+) influx following depletion of intracellular Ca(2+) stores (PubMed:26322679). Acts by interacting with STIM1, promoting STIM1 conformational switch (PubMed:26322679). Involved in STIM1 relocalization to ER-PM junctions (PubMed:26644574). Contributes to the maintenance and reorganization of store-dependent ER-PM junctions (PubMed:26644574).',NULL,NULL,NULL,NULL,NULL),(3840,'UniProt Function',NULL,4846,NULL,'Mediator of cell growth (PubMed:11641781, PubMed:17360971). Modulates apoptosis (PubMed:11641781, PubMed:17360971). In association with STK24 negatively regulates Golgi reorientation in polarized cell migration upon RHO activation (PubMed:27807006).',NULL,NULL,NULL,NULL,NULL),(3841,'UniProt Function',NULL,4848,NULL,'Facilitator of innate immune signaling that acts as a sensor of cytosolic DNA from bacteria and viruses and promotes the production of type I interferon (IFN-alpha and IFN-beta). Innate immune response is triggered in response to non-CpG double-stranded DNA from viruses and bacteria delivered to the cytoplasm. Acts by recognizing and binding cyclic di-GMP (c-di-GMP), a second messenger produced by bacteria, and cyclic GMP-AMP (cGAMP), a messenger produced in response to DNA virus in the cytosol: upon binding of c-di-GMP or cGAMP, autoinhibition is alleviated and TMEM173/STING is able to activate both NF-kappa-B and IRF3 transcription pathways to induce expression of type I interferon and exert a potent anti-viral state. May be involved in translocon function, the translocon possibly being able to influence the induction of type I interferons. May be involved in transduction of apoptotic signals via its association with the major histocompatibility complex class II (MHC-II). Mediates death signaling via activation of the extracellular signal-regulated kinase (ERK) pathway. Essential for the induction of IFN-beta in response to human herpes simplex virus 1 (HHV-1) infection. Exhibits 2\',3\' phosphodiester linkage-specific ligand recognition. Can bind both 2\'-3\' linked cGAMP and 3\'-3\' linked cGAMP but is preferentially activated by 2\'-3\' linked cGAMP (PubMed:26300263).',NULL,NULL,NULL,NULL,NULL),(3842,'UniProt Function',NULL,4848,NULL,'(Microbial infection) Antiviral activity is antagonized by oncoproteins, such as papillomavirus (HPV) protein E7 and adenovirus early E1A protein (PubMed:26405230). Such oncoproteins prevent the ability to sense cytosolic DNA (PubMed:26405230).',NULL,NULL,NULL,NULL,NULL),(3843,'UniProt Function',NULL,4850,NULL,'Serine/threonine-protein kinase involved in regulation of lymphocyte migration. Phosphorylates MSN, and possibly PLK1. Involved in regulation of lymphocyte migration by mediating phosphorylation of ERM proteins such as MSN. Acts as a negative regulator of MAP3K1/MEKK1. May also act as a cell cycle regulator by acting as a polo kinase kinase: mediates phosphorylation of PLK1 in vitro; however such data require additional evidences in vivo.',NULL,NULL,NULL,NULL,NULL),(3844,'UniProt Function',NULL,4851,NULL,'Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5\'-YCAAGGYC-3\' and 5\'-RRAGGTCA-3\' are the consensus sequences for the recognition by NR5A1 (PubMed:27378692). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation.',NULL,NULL,NULL,NULL,NULL),(3845,'UniProt Function',NULL,4852,NULL,'May play a role in cholesterol transfer to late endosomes (PubMed:19696025). May play a role in modulating membrane acid-sensing ion channels. Can specifically inhibit proton-gated current of ASIC1 isoform 1. Can increase inactivation speed of ASIC3. May be involved in regulation of proton sensing in dorsal root ganglions (By similarity). May play a role in protecting FBXW7 isoform 3 from degradation (PubMed:23082202).',NULL,NULL,NULL,NULL,NULL),(3846,'UniProt Function',NULL,4853,NULL,'Mitochondrial protein that probably regulates the biogenesis and the activity of mitochondria. Stimulates cardiolipin biosynthesis, binds cardiolipin-enriched membranes where it recruits and stabilizes some proteins including prohibitin and may therefore act in the organization of functional microdomains in mitochondrial membranes. Through regulation of the mitochondrial function may play a role into several biological processes including cell migration, cell proliferation, T-cell activation, calcium homeostasis and cellular response to stress. May play a role in calcium homeostasis through negative regulation of calcium efflux from mitochondria. Required for mitochondrial hyperfusion a pro-survival cellular response to stress which results in increased ATP production by mitochondria. May also regulate the organization of functional domains at the plasma membrane and play a role in T-cell activation through association with the T-cell receptor signaling complex and its regulation.',NULL,NULL,NULL,NULL,NULL),(3847,'UniProt Function',NULL,4854,NULL,'Membrane-associated protein kinase that phosphorylates on serine and threonine residues. In vitro substrates include DRG1, ENO1 and EIF4EBP1. Also autophosphorylates. May be involved in secretory vesicle trafficking or intracellular signaling. May have a role in regulating stromal-epithelial interactions that occur during ductal morphogenesis in the mammary gland. May be involved in TGF-beta signaling. Able to autophosphorylate on Tyr residue; it is however unclear whether it has tyrosine-protein kinase toward other proteins.',NULL,NULL,NULL,NULL,NULL),(3848,'UniProt Function',NULL,4855,NULL,'Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity.',NULL,NULL,NULL,NULL,NULL),(3849,'UniProt Function',NULL,4856,NULL,'As a component of the hypothalamic-pituitary-thyroid axis, it controls the secretion of thyroid-stimulating hormone (TSH) and is involved in thyroid hormone synthesis regulation. It also operates as modulator of hair growth. It promotes hair-shaft elongation, prolongs the hair cycle growth phase (anagen) and antagonizes its termination (catagen) by TGFB2. It stimulates proliferation and inhibits apoptosis of hair matrix keratinocytes.',NULL,NULL,NULL,NULL,NULL),(3850,'UniProt Function',NULL,4857,NULL,'Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein.',NULL,NULL,NULL,NULL,NULL),(3851,'UniProt Function',NULL,4858,NULL,'Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein.',NULL,NULL,NULL,NULL,NULL),(3852,'UniProt Function',NULL,4859,NULL,'Maternal factor that plays a role in epigenetic chromatin reprogramming during early development of the zygote. Involved in the regulation of gametic DNA demethylation by inducing the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC).',NULL,NULL,NULL,NULL,NULL),(3853,'UniProt Function',NULL,4860,NULL,'Tethering protein that creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263).',NULL,NULL,NULL,NULL,NULL),(3854,'UniProt Function',NULL,4861,NULL,'Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. This subunit contains the active site and the acceptor peptide and donor lipid-linked oligosaccharide (LLO) binding pockets (By similarity). STT3A is present in the majority of OST complexes and mediates cotranslational N-glycosylation of most sites on target proteins, while STT3B-containing complexes are required for efficient post-translational glycosylation and mediate glycosylation of sites that have been skipped by STT3A (PubMed:19167329).',NULL,NULL,NULL,NULL,NULL),(3855,'UniProt Function',NULL,4862,NULL,'Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. This subunit contains the active site and the acceptor peptide and donor lipid-linked oligosaccharide (LLO) binding pockets (By similarity). STT3B is present in a small subset of OST complexes and mediates both cotranslational and post-translational N-glycosylation of target proteins: STT3B-containing complexes are required for efficient post-translational glycosylation and while they are less competent than STT3A-containing complexes for cotranslational glycosylation, they have the ability to mediate glycosylation of some nascent sites that are not accessible for STT3A. STT3B-containing complexes also act post-translationally and mediate modification of skipped glycosylation sites in unfolded proteins. Plays a role in ER-associated degradation (ERAD) pathway that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins by mediating N-glycosylation of unfolded proteins, which are then recognized by the ERAD pathway and targeted for degradation. Mediates glycosylation of the disease variant AMYL-TTR \'Asp-38\' of TTR at \'Asn-118\', leading to its degradation (PubMed:19167329, PubMed:22607976).',NULL,NULL,NULL,NULL,NULL),(3856,'UniProt Function',NULL,4863,NULL,'May participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions.',NULL,NULL,NULL,NULL,NULL),(3857,'UniProt Function',NULL,4864,NULL,'May function as an E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway. Promotes neddylation of IKBKG/NEMO, stabilizing NFKBIA, and inhibiting of NF-kappaB nuclear translocation and activity.',NULL,NULL,NULL,NULL,NULL),(3858,'UniProt Function',NULL,4865,NULL,'Plays a role in the translocation of transport vesicles from the cytoplasm to the plasma membrane. Inhibits the translocation of SLC2A4 from intracellular vesicles to the plasma membrane by STX4A binding and preventing the interaction between STX4A and VAMP2. Stimulation with insulin disrupts the interaction with STX4A, leading to increased levels of SLC2A4 at the plasma membrane. May also play a role in the regulation of insulin release by pancreatic beta cells after stimulation by glucose (By similarity).',NULL,NULL,NULL,NULL,NULL),(3859,'UniProt Function',NULL,4868,NULL,'E3 ubiquitin-protein ligase that mediates the ubiquitination and proteasomal degradation of CYLD.',NULL,NULL,NULL,NULL,NULL),(3860,'UniProt Function',NULL,4870,NULL,'May regulate gene expression and protein turnover in muscle cells.',NULL,NULL,NULL,NULL,NULL),(3861,'UniProt Function',NULL,4871,NULL,'E3 ubiquitin-protein ligase that plays a key role in innate antiviral immunity (PubMed:21289118). In response to pathogen- and host-derived double-stranded DNA (dsDNA), targets TMEM173/STING to \'Lys-63\'-linked ubiquitination, thereby promoting its homodimerization, a step required for the production of type I interferon IFN-beta (By similarity). Independently of its E3 ubiquitin ligase activity, positive regulator of TLR3 signaling. Potentiates extracellular double stranded RNA (dsRNA)-induced expression of IFNB1 and interferon-stimulated genes ISG15, IFIT1/ISG56, CXCL10, OASL and CCL5/RANTES. Promotes establishment of an antiviral state by TLR3 ligand and TLR3-mediated chemokine induction following infection by hepatitis C virus (PubMed:22948160).',NULL,NULL,NULL,NULL,NULL),(3862,'UniProt Function',NULL,4872,NULL,'May serve as a multifunctional regulator for innate immune signaling pathways.',NULL,NULL,NULL,NULL,NULL),(3863,'UniProt Function',NULL,4875,NULL,'May function as transcription repressor; The repressive effects are mediated, at least in part, by recruitment of deacetylase activity. May play a role as negative regulator of postmeiotic genes acting through CBX3 complex formation and centromere association (By similarity).',NULL,NULL,NULL,NULL,NULL),(3864,'UniProt Function',NULL,4877,NULL,'E3 ubiquitin-protein ligase. Mediates \'Lys-63\'-linked polyubiquitination of the innate immune receptor DDX58, this linkage doesn\'t lead to proteasomal degradation but seems to enhance IFN induction.',NULL,NULL,NULL,NULL,NULL),(3865,'UniProt Function',NULL,4878,NULL,'E3 ubiquitin-protein ligase involved in ubiquitin fusion degradation (UFD) pathway and regulation of DNA repair. Part of the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination of protein at their N-terminus, regardless of the presence of lysine residues in target proteins. In normal cells, mediates ubiquitination and degradation of isoform p19ARF/ARF of CDKN2A, a lysine-less tumor suppressor required for p53/TP53 activation under oncogenic stress. In cancer cells, however, isoform p19ARF/ARF and TRIP12 are located in different cell compartments, preventing isoform p19ARF/ARF ubiquitination and degradation. Does not mediate ubiquitination of isoform p16-INK4a of CDKN2A. Also catalyzes ubiquitination of NAE1 and SMARCE1, leading to their degradation. Ubiquitination and degradation of target proteins is regulated by interaction with proteins such as MYC, TRADD or SMARCC1, which disrupt the interaction between TRIP12 and target proteins. Acts as a key regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of \'Lys-63\'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes.',NULL,NULL,NULL,NULL,NULL),(3866,'UniProt Function',NULL,4879,NULL,'Catalytic subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA (PubMed:16043508). Catalytic subunit of mRNA N(1)-methyltransferase complex, which mediates methylation of adenosine residues at the N(1) position of a small subset of mRNAs: N(1) methylation takes place in tRNA T-loop-like structures of mRNAs and is only present at low stoichiometries (PubMed:29107537, PubMed:29072297).',NULL,NULL,NULL,NULL,NULL),(3867,'UniProt Function',NULL,4880,NULL,'Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:27234298, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:28965847). Down-regulates GLI1-mediated transactivation of target genes (PubMed:15367681, PubMed:24217340, PubMed:24311597). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24311597, PubMed:24217340). Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Negative regulator of beta-catenin signaling (By similarity). Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of GLI3 (GLI3FL) (PubMed:24311597, PubMed:28965847). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state (PubMed:24311597, PubMed:28965847). Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R (PubMed:24311597, PubMed:28965847). When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A) (PubMed:24311597, PubMed:28965847). Required for normal embryonic development (By similarity). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(3868,'UniProt Function',NULL,4881,NULL,'May play a role in mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(3869,'UniProt Function',NULL,4882,NULL,'Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA (PubMed:21991380). Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by repressing transcription of NADPH oxidase subunits (By similarity).',NULL,NULL,NULL,NULL,NULL),(3870,'UniProt Function',NULL,4883,NULL,'Ubiquitin-like protein that can be covalently attached to proteins as a monomer or as a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by an E3 ligase such as PIAS1-4, RANBP2, CBX4 or ZNF451 (PubMed:26524494). This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Polymeric SUMO2 chains are also susceptible to polyubiquitination which functions as a signal for proteasomal degradation of modified proteins (PubMed:18408734, PubMed:18538659, PubMed:21965678, PubMed:9556629). Plays a role in the regulation of sumoylation status of SETX (PubMed:24105744).',NULL,NULL,NULL,NULL,NULL),(3871,'UniProt Function',NULL,4884,NULL,'Ubiquitin-like protein that can be covalently attached to proteins as a monomer or as a lysine-linked polymer. Regulates the life cycle of promyelocytic leukemia nuclear bodies (PML-NBs). PolySUMO1P1/SUMO5 conjugation on \'Lys-160\' of PML facilitates recruitment of PML-NB components, which enlarges PML-NB. SUMO1P1/SUMO5 also increases polySUMO2/3 conjugation of PML, resulting in RNF4-mediated disruption of PML-NBs.',NULL,NULL,NULL,NULL,NULL),(3872,'UniProt Function',NULL,4886,NULL,'Protease inhibitor that may play a role in the regulation of protease activities during hematopoiesis and apoptosis induced by TNF. May regulate protease activities in the cytoplasm and in the nucleus.',NULL,NULL,NULL,NULL,NULL),(3873,'UniProt Function',NULL,4887,NULL,'Component of the microsomal signal peptidase complex which removes signal peptides and other N-terminal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(3874,'UniProt Function',NULL,4891,NULL,'Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane. Can function as both amine donor and acceptor in transglutaminase-mediated cross-linkage.',NULL,NULL,NULL,NULL,NULL),(3875,'UniProt Function',NULL,4892,NULL,'Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in FASLG, ITM2B and TNF processing (PubMed:16829952, PubMed:16829951, PubMed:17557115, PubMed:17965014). Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus (PubMed:16829952). Also responsible for the intramembrane cleavage of Fas antigen ligand FASLG, which promotes the release of the intracellular FasL domain (FasL ICD) (PubMed:17557115). May play a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus envelope glycoprotein gp130 independently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852).',NULL,NULL,NULL,NULL,NULL),(3876,'UniProt Function',NULL,4893,NULL,'Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and the PNS (By similarity). Major factor for vascular smooth muscle cell.',NULL,NULL,NULL,NULL,NULL),(3877,'UniProt Function',NULL,4895,NULL,'Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).',NULL,NULL,NULL,NULL,NULL),(3878,'UniProt Function',NULL,4896,NULL,'May have a role in spermiogenesis.',NULL,NULL,NULL,NULL,NULL),(3879,'UniProt Function',NULL,4898,NULL,'Negatively regulates the transcriptional activator activity of SPIN1 via inhibition of its histone methyl-binding ability. Represses the expression of a number of SPIN1-regulated genes and the SPIN1-mediated activation of the Wnt signaling pathway. Can also inhibit the histone methyl-binding abilities of SPIN2A, SPIN2B, SPIN3 and SPIN4 (PubMed:29061846).',NULL,NULL,NULL,NULL,NULL),(3880,'UniProt Function',NULL,4899,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(3881,'UniProt Function',NULL,4900,NULL,'Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.',NULL,NULL,NULL,NULL,NULL),(3882,'UniProt Function',NULL,4901,NULL,'Probably plays an important role in neuronal membrane skeleton.',NULL,NULL,NULL,NULL,NULL),(3883,'UniProt Function',NULL,4904,NULL,'Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote pausing by inhibition of the transcription elongation factor TFIIS/S-II. TFIIS/S-II binds to RNA polymerase II at transcription pause sites and stimulates the weak intrinsic nuclease activity of the enzyme. Cleavage of blocked transcripts by RNA polymerase II promotes the resumption of transcription from the new 3\' terminus and may allow repeated attempts at transcription through natural pause sites. DSIF can also positively regulate transcriptional elongation and is required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. DSIF acts to suppress transcriptional pausing in transcripts derived from the HIV-1 LTR and blocks premature release of HIV-1 transcripts at terminator sequences.',NULL,NULL,NULL,NULL,NULL),(3884,'UniProt Function',NULL,4906,NULL,'May play a role in vesicular transport from endoplasmic reticulum to Golgi.',NULL,NULL,NULL,NULL,NULL),(3885,'UniProt Function',NULL,4910,NULL,'Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. May act as coactivator as well as corepressor of E2F1-TFDP1 and E2F4-TFDP1 complexes on E2F consensus binding sites, which would activate or inhibit E2F-target genes expression. Modulates fat storage by down-regulating the expression of key genes involved in adipocyte lipolysis, thermogenesis and oxidative metabolism.',NULL,NULL,NULL,NULL,NULL),(3886,'UniProt Function',NULL,4911,NULL,'Strong transcriptional coactivator.',NULL,NULL,NULL,NULL,NULL),(3887,'UniProt Function',NULL,4913,NULL,'Might play a role in mitosis. Antigenic molecule. Could be a centromere-associated protein. May induce anti-centromere antibodies.',NULL,NULL,NULL,NULL,NULL),(3888,'UniProt Function',NULL,4915,NULL,'Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).',NULL,NULL,NULL,NULL,NULL),(3889,'UniProt Function',NULL,4916,NULL,'Atypical sulfotransferase family member with very low affinity for 3\'-phospho-5\'-adenylyl sulfate (PAPS) and very low catalytic activity towards L-triiodothyronine, thyroxine, estrone, p-nitrophenol, 2-naphthylamine, and 2-beta-naphthol. May have a role in the metabolism of drugs and neurotransmitters in the CNS.',NULL,NULL,NULL,NULL,NULL),(3890,'UniProt Function',NULL,4917,NULL,'May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity).',NULL,NULL,NULL,NULL,NULL),(3891,'UniProt Function',NULL,4918,NULL,'Microtubule-dependent motor protein required for spindle pole assembly during mitosis. Required to stabilize the pericentriolar material (PCM).',NULL,NULL,NULL,NULL,NULL),(3892,'UniProt Function',NULL,4919,NULL,'Meiosis specific component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I.',NULL,NULL,NULL,NULL,NULL),(3893,'UniProt Function',NULL,4920,NULL,'Zinc metalloprotease that specifically cleaves \'Lys-63\'-linked polyubiquitin chains. Does not cleave \'Lys-48\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(3894,'UniProt Function',NULL,4921,NULL,'Binds DNA and activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1.',NULL,NULL,NULL,NULL,NULL),(3895,'UniProt Function',NULL,4922,NULL,'Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors. Following type I IFN (IFN-alpha and IFN-beta) binding to cell surface receptors, signaling via protein kinases leads to activation of Jak kinases (TYK2 and JAK1) and to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize and associate with ISGF3G/IRF-9 to form a complex termed ISGF3 transcription factor, that enters the nucleus (PubMed:28753426). ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of IFN-stimulated genes (ISG), which drive the cell in an antiviral state. In response to type II IFN (IFN-gamma), STAT1 is tyrosine- and serine-phosphorylated (PubMed:26479788). It then forms a homodimer termed IFN-gamma-activated factor (GAF), migrates into the nucleus and binds to the IFN gamma activated sequence (GAS) to drive the expression of the target genes, inducing a cellular antiviral state. Becomes activated in response to KITLG/SCF and KIT signaling. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4.',NULL,NULL,NULL,NULL,NULL),(3896,'UniProt Function',NULL,4923,NULL,'Substrate of protein kinase PTK6. May play a regulatory role in the acute-phase response in systemic inflammation and may modulate STAT3 activity.',NULL,NULL,NULL,NULL,NULL),(3897,'UniProt Function',NULL,4924,NULL,'Signal transducer and activator of transcription that mediates signaling by type I IFNs (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize, associate with IRF9/ISGF3G to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive the cell in an antiviral state (PubMed:9020188, PubMed:23391734). Acts as a regulator of mitochondrial fission by modulating the phosphorylation of DNM1L at \'Ser-616\' and \'Ser-637\' which activate and inactivate the GTPase activity of DNM1L respectively (PubMed:26122121).',NULL,NULL,NULL,NULL,NULL),(3898,'UniProt Function',NULL,4925,NULL,'Stimulates renal phosphate reabsorption, and could therefore prevent hypercalcemia.',NULL,NULL,NULL,NULL,NULL),(3899,'UniProt Function',NULL,4926,NULL,'Stimulates neutrophil and monocyte-mediated inflammatory responses. Triggers release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Amplifier of inflammatory responses that are triggered by bacterial and fungal infections and is a crucial mediator of septic shock.',NULL,NULL,NULL,NULL,NULL),(3900,'UniProt Function',NULL,4927,NULL,'Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor (By similarity).',NULL,NULL,NULL,NULL,NULL),(3901,'UniProt Function',NULL,4929,NULL,'Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation.',NULL,NULL,NULL,NULL,NULL),(3902,'UniProt Function',NULL,4930,NULL,'Exhibits microtubule-destabilizing activity, which is antagonized by STAT3.',NULL,NULL,NULL,NULL,NULL),(3903,'UniProt Function',NULL,4931,NULL,'Exhibits microtubule-destabilizing activity.',NULL,NULL,NULL,NULL,NULL),(3904,'UniProt Function',NULL,4932,NULL,'Constant region of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714).',NULL,NULL,NULL,NULL,NULL),(3905,'UniProt Function',NULL,4934,NULL,'May be involved in the endocytic machinery.',NULL,NULL,NULL,NULL,NULL),(3906,'UniProt Function',NULL,4935,NULL,'Adapter protein involved in endocytic machinery. Involved in the synaptic vesicle recycling. May facilitate clathrin-coated vesicle uncoating.',NULL,NULL,NULL,NULL,NULL),(3907,'UniProt Function',NULL,4936,NULL,'May positively contribute to the induction of apoptosis triggered by O(6)-methylguanine.',NULL,NULL,NULL,NULL,NULL),(3908,'UniProt Function',NULL,4938,NULL,'Endoplasmic reticulum (ER) membrane anchored E3 ligase involved in the retrotranslocation and turnover of membrane and secretory proteins from the ER through a set of processes named ER-associated degradation (ERAD). This process acts on misfolded proteins as well as in the regulated degradation of correctly folded proteins. Enhances ionizing radiation-induced p53/TP53 stability and apoptosis via ubiquitinating MDM2 and AKT1 and decreasing AKT1 kinase activity through MDM2 and AKT1 proteasomal degradation. Regulates ER stress-induced autophagy, and may act as a tumor suppressor (PubMed:22178386). Plays also a role in innate immune response by stimulating NF-kappa-B activity in the TLR2 signaling pathway. Ubiquitinates TRAF6 via the \'Lys-29\'-linked polyubiquitination chain resulting in NF-kappa-B activation (PubMed:28087809). Participates as well in T-cell receptor-mediated NF-kappa-B activation (PubMed:25088585). In the presence of TNF, modulates the IKK complex by regulating IKBKG/NEMO ubiquitination leading to the repression of NF-kappa-B (PubMed:25152375).',NULL,NULL,NULL,NULL,NULL),(3909,'UniProt Function',NULL,4940,NULL,'Essential to the formation of horizontal top connectors between outer hair cell stereocilia.',NULL,NULL,NULL,NULL,NULL),(3910,'UniProt Function',NULL,4941,NULL,'Acts as an E3 ubiquitin-protein ligase. Plays an essential role in autophagy activation during viral infection. Mechanistically, activates TANK-binding kinase 1/TBK1 by facilitating its dimerization and ability to phosphorylate the selective autophagy receptor SQSTM1. In order to achieve this function, TRIM23 mediates \'Lys-27\'-linked auto-ubiquitination of its ADP-ribosylation factor (ARF) domain to induce its GTPase activity and its recruitment to autophagosomes (PubMed:28871090).',NULL,NULL,NULL,NULL,NULL),(3911,'UniProt Function',NULL,4941,NULL,'(Microbial infection) Mediates TRAF6 auto-ubiquitination in the presence of human cytomegalovirus protein UL144, resulting in the virally controlled activation of NF-kappa-B stimulation at early times of HCMV infection.',NULL,NULL,NULL,NULL,NULL),(3912,'UniProt Function',NULL,4942,NULL,'Functions as a ubiquitin E3 ligase and as an ISG15 E3 ligase. Involved in innate immune defense against viruses by mediating ubiquitination of DDX58. Mediates \'Lys-63\'-linked polyubiquitination of the DDX58 N-terminal CARD-like region which is crucial for triggering the cytosolic signal transduction that leads to the production of interferons in response to viral infection. Promotes ISGylation of 14-3-3 sigma (SFN), an adapter protein implicated in the regulation of a large spectrum signaling pathway. Mediates estrogen action in various target organs. Mediates the ubiquitination and subsequent proteasomal degradation of ZFHX3 (PubMed:22452784).',NULL,NULL,NULL,NULL,NULL),(3913,'UniProt Function',NULL,4944,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination of PIK3C2B and inhibits its activity; mediates the formation of \'Lys-48\'-linked polyubiquitin chains; the function inhibits CD4 T-cell activation. Acts as a regulator of retrograde transport: together with MAGEL2, mediates the formation of \'Lys-63\'-linked polyubiquitin chains at \'Lys-220\' of WASHC1, leading to promote endosomal F-actin assembly (PubMed:23452853). Has a transcriptional repressor activity by cooperating with EPC1. Induces apoptosis by activating Jun N-terminal kinase and p38 kinase and also increases caspase-3-like activity independently of mitochondrial events. May function in male germ cell development. Has DNA-binding activity and preferentially bound to double-stranded DNA.',NULL,NULL,NULL,NULL,NULL),(3914,'UniProt Function',NULL,4945,NULL,'Regulator of Src-induced anchorage independent cell growth (By similarity). May have E3 ubiquitin-protein ligase activity.',NULL,NULL,NULL,NULL,NULL),(3915,'UniProt Function',NULL,4946,NULL,'Involved in intracellular vesicle trafficking.',NULL,NULL,NULL,NULL,NULL),(3916,'UniProt Function',NULL,4947,NULL,'May be involved in protein trafficking from the plasma membrane to the early endosome (EE) as well as in homotypic fusion of endocytic organelles. Mediates the endocytic trafficking from early endosomes to late endosomes and lysosomes.',NULL,NULL,NULL,NULL,NULL),(3917,'UniProt Function',NULL,4948,NULL,'Vesicle trafficking protein that functions in the early secretory pathway, possibly by mediating retrograde transport from cis-Golgi membranes to the ER.',NULL,NULL,NULL,NULL,NULL),(3918,'UniProt Function',NULL,4949,NULL,'E3 ubiquitin-protein ligase required to prevent centriole reduplication (PubMed:15885686, PubMed:23769972). Probably acts by ubiquitinating positive regulators of centriole reduplication (PubMed:23769972). Mediates monoubiquitination of \'Lys-119\' of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression: associates with some Polycomb group (PcG) multiprotein PRC2-like complex and mediates repression of target genes (PubMed:25470042). Has anti-HIV activity (PubMed:24317724).',NULL,NULL,NULL,NULL,NULL),(3919,'UniProt Function',NULL,4950,NULL,'E3 ubiquitin-protein ligase. Mediates \'Lys-48\'-linked polyubiquitination and proteasomal degradation of the critical TLR adapter TICAM1, inhibiting TLR3-mediated type I interferon signaling.',NULL,NULL,NULL,NULL,NULL),(3920,'UniProt Function',NULL,4951,NULL,'E3 ubiquitin-protein ligase. May facilitate apoptosis by inhibiting APC/C-Cdh1-mediated poly-ubiquitination and subsequent proteasome-mediated degradation of the pro-apoptotic protein MOAP1.',NULL,NULL,NULL,NULL,NULL),(3921,'UniProt Function',NULL,4952,NULL,'Forms non-fusogenic complexes with SNAP25 and STX1A and may thereby modulate the formation of functional SNARE complexes and exocytosis.',NULL,NULL,NULL,NULL,NULL),(3922,'UniProt Function',NULL,4953,NULL,'Microtubule-associated protein that is involved in the formation of parallel microtubule bundles linked by cross-bridges in the proximal axon. Required for the uniform orientation and maintenance of the parallel microtubule fascicles, which are important for efficient cargo delivery and trafficking in axons. Thereby also required for proper axon specification, the establishment of neuronal polarity and proper neuronal migration.',NULL,NULL,NULL,NULL,NULL),(3923,'UniProt Function',NULL,4955,NULL,'E3 ubiquitin-protein ligase that ubiquitinates Beclin-1/BECN1 in a \'Lys-63\'-dependent manner enhancing its binding to ULK1. In turn, promotes starvation-induced autophagy activation. Interacts also with p62/SQSTM1 protein and thereby induces the formation and the autophagy clearance of aggresome-associated polyubiquitinated proteins through HDAC6 interaction.',NULL,NULL,NULL,NULL,NULL),(3924,'UniProt Function',NULL,4958,NULL,'May bind and stabilize microtubules during myotubes formation.',NULL,NULL,NULL,NULL,NULL),(3925,'UniProt Function',NULL,4959,NULL,'Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756, PubMed:21224894). 3-oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756). Known substrates include GALNS, ARSA, STS and ARSE (PubMed:12757706, PubMed:15907468, PubMed:15657036).',NULL,NULL,NULL,NULL,NULL),(3926,'UniProt Function',NULL,4960,NULL,'As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration. Required for nuclear migration in retinal photoreceptor progenitors implicating association with cytoplasmic dynein-dynactin and kinesin motor complexes, and probably B-type lamins; SUN1 and SUN2 seem to act redundantly. The SUN1/2:KASH5 LINC complex couples telomeres to microtubules during meiosis; SUN1 and SUN2 seem to act at least partial redundantly. Anchors chromosome movement in the prophase of meiosis and is involved in selective gene expression of coding and non-coding RNAs needed for gametogenesis. Required for telomere attachment to nuclear envelope and gametogenesis. May also function on endocytic vesicles as a receptor for RAB5-GDP and participate in the activation of RAB5.',NULL,NULL,NULL,NULL,NULL),(3927,'UniProt Function',NULL,4961,NULL,'Binds to both DNA and RNA in vitro, with a stronger binding capacity for RNA. May represent a nucleolar constitutive protein involved in ribosomal biosynthesis or assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(3928,'UniProt Function',NULL,4962,NULL,'Acts as complement inhibitor by disrupting the formation of the classical C3 convertase. Isoform 3 inhibits the classical complement pathway, while membrane-bound isoform 1 inhibits deposition of C3b via both the classical and alternative complement pathways.',NULL,NULL,NULL,NULL,NULL),(3929,'UniProt Function',NULL,4963,NULL,'Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles.',NULL,NULL,NULL,NULL,NULL),(3930,'UniProt Function',NULL,4963,NULL,'(Microbial infection) Receptor for C.botulinum neurotoxin type A (BoNT/A, botA); the toxin probably binds via extracellular loop 4 (PubMed:27313224). Recognition by BoNT/A relies on both protein-protein and protein-N-glycosylation; glycosylation of Asn-559 increases its affinity for BoNT/A (PubMed:27313224). Also serves as a receptor for the closely related C.botulinum neurotoxin type A2; glycosylation is not essential but enhances the interaction (PubMed:29649119).',NULL,NULL,NULL,NULL,NULL),(3931,'UniProt Function',NULL,4963,NULL,'(Microbial infection) Possible receptor for C.botulinum neurotoxin type D (BoNT/D, botD); note that type D does not usually infect humans.',NULL,NULL,NULL,NULL,NULL),(3932,'UniProt Function',NULL,4964,NULL,'Enhances the tyrosine carboxypeptidase activity of VASH1 and VASH2, thereby promoting the removal of the C-terminal tyrosine residue of alpha-tubulin (PubMed:29146869). Also required to enhance the solubility and secretion of VASH1 and VASH2 (PubMed:20736312, PubMed:27879017).',NULL,NULL,NULL,NULL,NULL),(3933,'UniProt Function',NULL,4965,NULL,'May play a role in the cell attachment process.',NULL,NULL,NULL,NULL,NULL),(3934,'UniProt Function',NULL,4966,NULL,'Isoform 1: Forms a high-affinity link between the actin cytoskeleton and the membrane. Is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation (PubMed:12711699). Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during cell spreading, an initial step in cell migration. May play a role in invadopodial function (PubMed:19109420).',NULL,NULL,NULL,NULL,NULL),(3935,'UniProt Function',NULL,4966,NULL,'Isoform 2: May be involved in modulation of focal adhesions. Supervillin-mediated down-regulation of focal adhesions involves binding to TRIP6. Plays a role in cytokinesis through KIF14 interaction (By similarity).',NULL,NULL,NULL,NULL,NULL),(3936,'UniProt Function',NULL,4970,NULL,'Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression (By similarity). May act as a spontaneously active, calcium-permeable plasma membrane channel.',NULL,NULL,NULL,NULL,NULL),(3937,'UniProt Function',NULL,4971,NULL,'Isoform 1: Nonselective, voltage-independent cation channel that mediates Na(+) and Ca(2+) influx, leading to increased cytoplasmic Ca(2+) levels (PubMed:11960981, PubMed:12594222, PubMed:11385575, PubMed:11509734, PubMed:11804595, PubMed:15561722, PubMed:16601673, PubMed:19171771, PubMed:20660597, PubMed:27383051, PubMed:27068538). Extracellular calcium passes through the channel and increases channel activity by binding to the cytoplasmic domain and stabilizing the channel in an open conformation (PubMed:19171771). Also contributes to Ca(2+) release from intracellular stores in response to ADP-ribose (PubMed:19454650). Plays a role in numerous processes that involve signaling via intracellular Ca(2+) levels (Probable). Besides, mediates the release of lysosomal Zn(2+) stores in response to reactive oxygen species, leading to increased cytosolic Zn(2+) levels (PubMed:25562606, PubMed:27068538). Activated by moderate heat (35 to 40 degrees Celsius) (PubMed:16601673). Activated by intracellular ADP-ribose, beta-NAD (NAD(+)) and similar compounds, and by oxidative stress caused by reactive oxygen or nitrogen species (PubMed:11960981, PubMed:11385575, PubMed:11509734, PubMed:11804595, PubMed:15561722, PubMed:16601673, PubMed:19171771, PubMed:27383051, PubMed:27068538). The precise physiological activators are under debate; the true, physiological activators may be ADP-ribose and ADP-ribose-2\'-phosphate (PubMed:20650899, PubMed:25918360). Activation by ADP-ribose and beta-NAD is strongly increased by moderate heat (35 to 40 degrees Celsius) (PubMed:16601673). Likewise, reactive oxygen species lower the threshold for activation by moderate heat (37 degrees Celsius) (PubMed:22493272). Plays a role in mediating behavorial and physiological responses to moderate heat and thereby contributes to body temperature homeostasis. Plays a role in insulin secretion, a process that requires increased cytoplasmic Ca(2+) levels (By similarity). Required for normal IFNG and cytokine secretion and normal innate immune immunity in response to bacterial infection. Required for normal phagocytosis and cytokine release by macrophages exposed to zymosan (in vitro). Plays a role in dendritic cell differentiation and maturation, and in dendritic cell chemotaxis via its role in regulating cytoplasmic Ca(2+) levels (By similarity). Plays a role in the regulation of the reorganization of the actin cytoskeleton and filopodia formation in response to reactive oxygen species via its role in increasing cytoplasmic Ca(2+) and Zn(2+) levels (PubMed:27068538). Confers susceptibility to cell death following oxidative stress (PubMed:12594222, PubMed:25562606).',NULL,NULL,NULL,NULL,NULL),(3938,'UniProt Function',NULL,4971,NULL,'Isoform 2: Lacks cation channel activity. Does not mediate cation transport in response to oxidative stress or ADP-ribose.',NULL,NULL,NULL,NULL,NULL),(3939,'UniProt Function',NULL,4971,NULL,'Isoform 3: Lacks cation channel activity and negatively regulates the channel activity of isoform 1. Negatively regulates susceptibility to cell death in reposponse to oxidative stress.',NULL,NULL,NULL,NULL,NULL),(3940,'UniProt Function',NULL,4972,NULL,'Calcium channel mediating constitutive calcium ion entry. Its activity is increased by reduction in extracellular osmolarity, by store depletion and muscarinic receptor activation.',NULL,NULL,NULL,NULL,NULL),(3941,'UniProt Function',NULL,4973,NULL,'Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization (PubMed:12015988, PubMed:29211723). While it is activated by increase in intracellular Ca(2+), it is impermeable to it (PubMed:12015988). Mediates transport of monovalent cations (Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+) oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway.',NULL,NULL,NULL,NULL,NULL),(3942,'UniProt Function',NULL,4974,NULL,'Voltage-modulated Ca(2+)-activated, monovalent cation channel (VCAM) that mediates a transient membrane depolarization and plays a central role in taste transduction. Monovalent-specific, non-selective cation channel that mediates the transport of Na(+), K(+) and Cs(+) ions equally well. Activated directly by increases in intracellular Ca(2+), but is impermeable to it. Gating is voltage-dependent and displays rapid activation and deactivation kinetics upon channel stimulation even during sustained elevations in Ca(2+). Also activated by a fast intracellular Ca(2+) increase in response to inositol 1,4,5-triphosphate-producing receptor agonists. The channel is blocked by extracellular acidification. External acidification has 2 effects, a fast reversible block of the current and a slower irreversible enhancement of current inactivation. Is a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. Heat activation is due to a shift of the voltage-dependent activation curve to negative potentials. Activated by arachidonic acid in vitro. May be involved in perception of bitter, sweet and umami tastes. May also be involved in sensing semiochemicals.',NULL,NULL,NULL,NULL,NULL),(3943,'UniProt Function',NULL,4975,NULL,'Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region.',NULL,NULL,NULL,NULL,NULL),(3944,'UniProt Function',NULL,4976,NULL,'Essential ion channel and serine/threonine-protein kinase. Divalent cation channel permeable to calcium and magnesium. Has a central role in magnesium ion homeostasis and in the regulation of anoxic neuronal cell death. Involved in TNF-induced necroptosis downstream of MLKL by mediating calcium influx. The kinase activity is essential for the channel function. May be involved in a fundamental process that adjusts plasma membrane divalent cation fluxes according to the metabolic state of the cell. Phosphorylates annexin A1 (ANXA1).',NULL,NULL,NULL,NULL,NULL),(3945,'UniProt Function',NULL,4977,NULL,'GTPase activator for the Rho-type GTPases. As a GCM1 downstream effector, it is involved in placental development and positively regulates trophoblast cells migration. It regulates cytoskeletal remodeling by controlling the activity of Rho GTPases including RHOA, CDC42 and RAC1 (PubMed:27917469).',NULL,NULL,NULL,NULL,NULL),(3946,'UniProt Function',NULL,4979,NULL,'Intramembrane-cleaving aspartic protease (I-CLiP) that may be able to cleave type II membrane signal peptides in the hydrophobic plane of the membrane.',NULL,NULL,NULL,NULL,NULL),(3947,'UniProt Function',NULL,4980,NULL,'Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Regulates cell migration and adhesion assembly and disassembly through a RAC1, PI3K, RHOA and AKT1-dependent mechanism. Increases both RAC1 and CDC42 activity, but decreases the amount of active RHOA. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression.',NULL,NULL,NULL,NULL,NULL),(3948,'UniProt Function',NULL,4981,NULL,'May play a role in fertility regulation.',NULL,NULL,NULL,NULL,NULL),(3949,'UniProt Function',NULL,4983,NULL,'Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference, complexes with this subunit showing a clear preference for longer acyl-CoAs. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. May play a role in signal transduction.',NULL,NULL,NULL,NULL,NULL),(3950,'UniProt Function',NULL,4984,NULL,'Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.',NULL,NULL,NULL,NULL,NULL),(3951,'UniProt Function',NULL,4985,NULL,'May play a role in vesicular transport from endoplasmic reticulum to Golgi.',NULL,NULL,NULL,NULL,NULL),(3952,'UniProt Function',NULL,4986,NULL,'Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate.',NULL,NULL,NULL,NULL,NULL),(3953,'UniProt Function',NULL,4987,NULL,'Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, while the SPTLC1-SPTLC3-SPTSSB has the ability to use a broader range of acyl-CoAs without apparent preference.',NULL,NULL,NULL,NULL,NULL),(3954,'UniProt Function',NULL,4988,NULL,'Transcriptional regulator that controls a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity). Involved in different aspects of gene regulation including promoter activation or repression (By similarity). Promotes DNA bending. SRY HMG box recognizes DNA by partial intercalation in the minor groove. Also involved in pre-mRNA splicing. Binds to the DNA consensus sequence 5\'-[AT]AACAA[AT]-3\'.',NULL,NULL,NULL,NULL,NULL),(3955,'UniProt Function',NULL,4989,NULL,'This protein binds preferentially and cooperatively to ss-DNA. Probably involved in mitochondrial DNA replication. Associates with mitochondrial DNA.',NULL,NULL,NULL,NULL,NULL),(3956,'UniProt Function',NULL,4991,NULL,'Protein phosphatase which may play a role in the regulation of actin filament dynamics. Can dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(3957,'UniProt Function',NULL,4992,NULL,'Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein.',NULL,NULL,NULL,NULL,NULL),(3958,'UniProt Function',NULL,4993,NULL,'Receptor for somatostatin with higher affinity for somatostatin-14 than -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. In addition it stimulates phosphotyrosine phosphatase and Na(+)/H(+) exchanger via pertussis toxin insensitive G proteins.',NULL,NULL,NULL,NULL,NULL),(3959,'UniProt Function',NULL,4994,NULL,'Component of the antigen processing and presentation pathway, which binds to MHC class I coupled with beta2-microglobulin/B2M. Association between TAPBPR and MHC class I occurs in the absence of a functional peptide-loading complex (PLC). Expression seems to slow down and down-regulate MHC class I surface expression.',NULL,NULL,NULL,NULL,NULL),(3960,'UniProt Function',NULL,4995,NULL,'Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading).',NULL,NULL,NULL,NULL,NULL),(3961,'UniProt Function',NULL,4996,NULL,'Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3\'-phosphoadenylyl sulfate (PAPS) as cosubstrate.',NULL,NULL,NULL,NULL,NULL),(3962,'UniProt Function',NULL,4997,NULL,'TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.',NULL,NULL,NULL,NULL,NULL),(3963,'UniProt Function',NULL,4998,NULL,'TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins.',NULL,NULL,NULL,NULL,NULL),(3964,'UniProt Function',NULL,5000,NULL,'Involved in the regulation of endosome-to-lysosome trafficking, including endocytic trafficking of EGF-EGFR complexes and GABA-A receptors (PubMed:18675823). Involved in mitochondrial motility. When O-glycosylated, abolishes mitochondrial motility. Crucial for recruiting OGT to the mitochondrial surface of neuronal processes (PubMed:24995978). TRAK1 and RHOT form an essential protein complex that links KIF5 to mitochondria for light chain-independent, anterograde transport of mitochondria (By similarity).',NULL,NULL,NULL,NULL,NULL),(3965,'UniProt Function',NULL,5001,NULL,'Necessary for collagen type I synthesis. May couple the activity of the ER Ca(2+) pump SERCA2B with the activity of the translocon. This coupling may increase the local Ca(2+) concentration at the site of collagen synthesis, and a high Ca(2+) concentration may be necessary for the function of molecular chaperones involved in collagen folding. Required for proper insertion of the first transmembrane helix N-terminus of TM4SF20 into the ER lumen, may act as a ceramide sensor for regulated alternative translocation (RAT) (PubMed:27499293).',NULL,NULL,NULL,NULL,NULL),(3966,'UniProt Function',NULL,5002,NULL,'Chaperone that expresses an ATPase activity. Involved in maintaining mitochondrial function and polarization, downstream of PINK1 and mitochondrial complex I. Is a negative regulator of mitochondrial respiration able to modulate the balance between oxidative phosphorylation and aerobic glycolysis. The impact of TRAP1 on mitochondrial respiration is probably mediated by modulation of mitochondrial SRC and inhibition of SDHA.',NULL,NULL,NULL,NULL,NULL),(3967,'UniProt Function',NULL,5003,NULL,'Stabilizes the TCR (T-cell antigen receptor)/CD3 complex at the surface of T-cells.',NULL,NULL,NULL,NULL,NULL),(3968,'UniProt Function',NULL,5004,NULL,'Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II. Plays a role in RNA processing and termination. Plays a role in pre-mRNA polyadenylation via its interaction with SYMPK.',NULL,NULL,NULL,NULL,NULL),(3969,'UniProt Function',NULL,5005,NULL,'Could act as a modulator of transcription.',NULL,NULL,NULL,NULL,NULL),(3970,'UniProt Function',NULL,5006,NULL,'Could act as a modulator of transcription.',NULL,NULL,NULL,NULL,NULL),(3971,'UniProt Function',NULL,5007,NULL,'Plays a role in odontogenesis.',NULL,NULL,NULL,NULL,NULL),(3972,'UniProt Function',NULL,5008,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, norepinephrine and serotonin) and phenolic and catechol drugs.',NULL,NULL,NULL,NULL,NULL),(3973,'UniProt Function',NULL,5009,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, norepinephrine and serotonin) and phenolic and catechol drugs.',NULL,NULL,NULL,NULL,NULL),(3974,'UniProt Function',NULL,5010,NULL,'J region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714).',NULL,NULL,NULL,NULL,NULL),(3975,'UniProt Function',NULL,5011,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor and has low sulphotransferase activity towards various substrates with alcohol groups (in vitro). May catalyze the sulfate conjugation of xenobiotic compounds and endogenous substrates.',NULL,NULL,NULL,NULL,NULL),(3976,'UniProt Function',NULL,5012,NULL,'Degrades extracellular matrix. Proposed to play a role in breast cancer invasion and metastasis. Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site. Involved in the terminal differentiation of keratinocytes through prostasin (PRSS8) activation and filaggrin (FLG) processing.',NULL,NULL,NULL,NULL,NULL),(3977,'UniProt Function',NULL,5013,NULL,'V region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714).',NULL,NULL,NULL,NULL,NULL),(3978,'UniProt Function',NULL,5014,NULL,'V region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714).',NULL,NULL,NULL,NULL,NULL),(3979,'UniProt Function',NULL,5015,NULL,'Repressor that binds to DNA sequences containing a bipartite element consisting of a direct repeat of the sequence 5\'-AAAGTTT-3\' separated by 2-9 nucleotides. Represses basal transcription activity from target promoters (By similarity). Inhibits colony formation in cultured breast cancer cells.',NULL,NULL,NULL,NULL,NULL),(3980,'UniProt Function',NULL,5016,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfonation of steroids and bile acids in the liver and adrenal glands.',NULL,NULL,NULL,NULL,NULL),(3981,'UniProt Function',NULL,5017,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates hydroxysteroids like DHEA. Isoform 1 preferentially sulfonates cholesterol, and isoform 2 avidly sulfonates pregnenolone but not cholesterol. Plays a role in epidermal cholesterol metabolism and in the regulation of epidermal proliferation and differentiation (PubMed:28575648).',NULL,NULL,NULL,NULL,NULL),(3982,'UniProt Function',NULL,5019,NULL,'Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation.',NULL,NULL,NULL,NULL,NULL),(3983,'UniProt Function',NULL,5020,NULL,'GTPase-activating protein for RhoA, and perhaps for Cdc42. May be involved in regulation of cytoskeletal reorganization, cell proliferation and cell motility. Acts a tumor suppressor in hepatocellular carcinoma cells.',NULL,NULL,NULL,NULL,NULL),(3984,'UniProt Function',NULL,5021,NULL,'Accelerates GTPase activity of RHOA and CDC42, but not RAC1. Stimulates the hydrolysis of phosphatidylinositol 4,5-bisphosphate by PLCD1.',NULL,NULL,NULL,NULL,NULL),(3985,'UniProt Function',NULL,5022,NULL,'Zinc metalloprotease that specifically cleaves \'Lys-63\'-linked polyubiquitin chains. Does not cleave \'Lys-48\'-linked polyubiquitin chains (By similarity). Plays a role in signal transduction for cell growth and MYC induction mediated by IL-2 and GM-CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the inhibitory action of SMAD6 and SMAD7. Has a key role in regulation of cell surface receptor-mediated endocytosis and ubiquitin-dependent sorting of receptors to lysosomes. Endosomal localization of STAMBP is required for efficient EGFR degradation but not for its internalization (By similarity). Involved in the negative regulation of PI3K-AKT-mTOR and RAS-MAP signaling pathways.',NULL,NULL,NULL,NULL,NULL),(3986,'UniProt Function',NULL,5023,NULL,'Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone.',NULL,NULL,NULL,NULL,NULL),(3987,'UniProt Function',NULL,5024,NULL,'Acts as a cargo receptor for glycogen. Delivers its cargo to an autophagic pathway called glycophagy, resulting in the transport of glycogen to lysosomes.',NULL,NULL,NULL,NULL,NULL),(3988,'UniProt Function',NULL,5025,NULL,'Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:11053434, PubMed:15930133, PubMed:22514632, PubMed:28377464). Creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263, PubMed:28377464). Acts as a lipid transfer protein that redirects sterol to the endosome at the expense of the cell membrane and favors membrane formation inside endosomes (PubMed:28377464). May also mediate cholesterol transport between other membranes, such as mitochondria membrane or cell membrane (PubMed:12070139, PubMed:19965586). However, such results need additional experimental evidences; probably mainly mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:28377464). Does not activate transcriptional cholesterol sensing (PubMed:28377464). Able to bind other lipids, such as lutein, a xanthophyll carotenoids that form the macular pigment of the retina (PubMed:21322544).',NULL,NULL,NULL,NULL,NULL),(3989,'UniProt Function',NULL,5026,NULL,'May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity).',NULL,NULL,NULL,NULL,NULL),(3990,'UniProt Function',NULL,5027,NULL,'Salivary protein that stabilizes saliva supersaturated with calcium salts by inhibiting the precipitation of calcium phosphate salts. It also modulates hydroxyapatite crystal formation on the tooth surface.',NULL,NULL,NULL,NULL,NULL),(3991,'UniProt Function',NULL,5028,NULL,'RNA-binding protein required for the microtubule-dependent transport of neuronal RNA from the cell body to the dendrite. As protein synthesis occurs within the dendrite, the localization of specific mRNAs to dendrites may be a prerequisite for neurite outgrowth and plasticity at sites distant from the cell body (By similarity).',NULL,NULL,NULL,NULL,NULL),(3992,'UniProt Function',NULL,5029,NULL,'Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1 (PubMed:16024801, PubMed:9372240). Plays an important role in the regulation of centriole duplication. Required for the onset of procentriole formation and proper mitotic progression. During procentriole formation, is essential for the correct loading of SASS6 and CENPJ to the base of the procentriole to initiate procentriole assembly (PubMed:22020124).',NULL,NULL,NULL,NULL,NULL),(3993,'UniProt Function',NULL,5030,NULL,'Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores (PubMed:15866891, PubMed:16005298, PubMed:16208375, PubMed:16537481, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:18854159, PubMed:19249086, PubMed:22464749, PubMed:24069340, PubMed:24351972, PubMed:24591628, PubMed:26322679, PubMed:25326555, PubMed:28219928). Acts as Ca(2+) sensor in the endoplasmic reticulum via its EF-hand domain. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the Ca(2+) release-activated Ca(2+) (CRAC) channel subunit ORAI1 (PubMed:16208375, PubMed:16537481). Involved in enamel formation (PubMed:24621671). Activated following interaction with STIMATE, leading to promote STIM1 conformational switch (PubMed:26322679).',NULL,NULL,NULL,NULL,NULL),(3994,'UniProt Function',NULL,5031,NULL,'Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Functions as a highly sensitive Ca(2+) sensor in the endoplasmic reticulum which activates both store-operated and store-independent Ca(2+)-influx. Regulates basal cytosolic and endoplasmic reticulum Ca(2+) concentrations. Upon mild variations of the endoplasmic reticulum Ca(2+) concentration, translocates from the endoplasmic reticulum to the plasma membrane where it probably activates the Ca(2+) release-activated Ca(2+) (CRAC) channels ORAI1, ORAI2 and ORAI3. May inhibit STIM1-mediated Ca(2+) influx.',NULL,NULL,NULL,NULL,NULL),(3995,'UniProt Function',NULL,5032,NULL,'Serine/threonine protein kinase which phosphorylates VIME. May play a specific role in the dynamic behavior of the intermediate filament cytoskeleton by phosphorylation of VIME (By similarity). Not essential for the survival of KRAS-dependent AML cell lines.',NULL,NULL,NULL,NULL,NULL),(3996,'UniProt Function',NULL,5033,NULL,'May act as a mediator of stress-activated signals. Mediates the inhibition of SLC4A4, SLC26A6 as well as CFTR activities by the WNK scaffolds, probably through phosphorylation. Phosphorylates RELT.',NULL,NULL,NULL,NULL,NULL),(3997,'UniProt Function',NULL,5034,NULL,'Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. STK3/MST2 and STK4/MST1 are required to repress proliferation of mature hepatocytes, to prevent activation of facultative adult liver stem cells (oval cells), and to inhibit tumor formation. Phosphorylates NKX2-1 (By similarity). Phosphorylates NEK2 and plays a role in centrosome disjunction by regulating the localization of NEK2 to centrosome, and its ability to phosphorylate CROCC and CEP250. In conjunction with SAV1, activates the transcriptional activity of ESR1 through the modulation of its phosphorylation. Positively regulates RAF1 activation via suppression of the inhibitory phosphorylation of RAF1 on \'Ser-259\'. Phosphorylates MOBKL1A and RASSF2. Phosphorylates MOBKL1B on \'Thr-74\'. Acts cooperatively with MOBKL1B to activate STK38.',NULL,NULL,NULL,NULL,NULL),(3998,'UniProt Function',NULL,5036,NULL,'Tumor suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage response. Acts by phosphorylating the T-loop of AMPK family proteins, thus promoting their activity: phosphorylates PRKAA1, PRKAA2, BRSK1, BRSK2, MARK1, MARK2, MARK3, MARK4, NUAK1, NUAK2, SIK1, SIK2, SIK3 and SNRK but not MELK. Also phosphorylates non-AMPK family proteins such as STRADA, PTEN and possibly p53/TP53. Acts as a key upstream regulator of AMPK by mediating phosphorylation and activation of AMPK catalytic subunits PRKAA1 and PRKAA2 and thereby regulates processes including: inhibition of signaling pathways that promote cell growth and proliferation when energy levels are low, glucose homeostasis in liver, activation of autophagy when cells undergo nutrient deprivation, and B-cell differentiation in the germinal center in response to DNA damage. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton. Required for cortical neuron polarization by mediating phosphorylation and activation of BRSK1 and BRSK2, leading to axon initiation and specification. Involved in DNA damage response: interacts with p53/TP53 and recruited to the CDKN1A/WAF1 promoter to participate in transcription activation. Able to phosphorylate p53/TP53; the relevance of such result in vivo is however unclear and phosphorylation may be indirect and mediated by downstream STK11/LKB1 kinase NUAK1. Also acts as a mediator of p53/TP53-dependent apoptosis via interaction with p53/TP53: translocates to the mitochondrion during apoptosis and regulates p53/TP53-dependent apoptosis pathways. In vein endothelial cells, inhibits PI3K/Akt signaling activity and thus induces apoptosis in response to the oxidant peroxynitrite (in vitro). Regulates UV radiation-induced DNA damage response mediated by CDKN1A. In association with NUAK1, phosphorylates CDKN1A in response to UV radiation and contributes to its degradation which is necessary for optimal DNA repair (PubMed:25329316).',NULL,NULL,NULL,NULL,NULL),(3999,'UniProt Function',NULL,5036,NULL,'Isoform 2: Has a role in spermiogenesis.',NULL,NULL,NULL,NULL,NULL),(4000,'UniProt Function',NULL,5037,NULL,'Seems to be a protein kinase. In vitro it can phosphorylate casein-alpha on serine and threonine residues and histones on serine residues.',NULL,NULL,NULL,NULL,NULL),(4001,'UniProt Function',NULL,5038,NULL,'Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction.',NULL,NULL,NULL,NULL,NULL),(4002,'UniProt Function',NULL,5039,NULL,'Intermediate filament-associated protein that associates in regular arrays with keratin intermediate filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later becomes cross-linked to KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own calcium-dependent postsynthetic processing during terminal differentiation.',NULL,NULL,NULL,NULL,NULL),(4003,'UniProt Function',NULL,5040,NULL,'Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction.',NULL,NULL,NULL,NULL,NULL),(4004,'UniProt Function',NULL,5041,NULL,'Meiosis-inducer required for the transition into meiosis for both female and male germ cells. In female germ cells, required for premeiotic DNA replication and subsequent events in meiotic prophase. During spermatogenesis, next to its role in meiotic initiation, promotes (but is not required for) spermatogonial differentiation. Can associate with DNA (possibly in an indirect manner), and in vitro can activate DNA transcription (By similarity).',NULL,NULL,NULL,NULL,NULL),(4005,'UniProt Function',NULL,5043,NULL,'Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation.',NULL,NULL,NULL,NULL,NULL),(4006,'UniProt Function',NULL,5044,NULL,'Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape.',NULL,NULL,NULL,NULL,NULL),(4007,'UniProt Function',NULL,5045,NULL,'Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.',NULL,NULL,NULL,NULL,NULL),(4008,'UniProt Function',NULL,5046,NULL,'Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.',NULL,NULL,NULL,NULL,NULL),(4009,'UniProt Function',NULL,5047,NULL,'Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(4010,'UniProt Function',NULL,5048,NULL,'Cell adhesion protein that promotes adhesion and outgrowth of hippocampal embryonic neurons. Binds directly to bacteria and their components and functions as an opsonin for macrophage phagocytosis of bacteria. Essential in the initiation of the innate immune response and represents a unique pattern-recognition molecule in the ECM for microbial pathogens (By similarity). Binds bacterial lipopolysaccharide (LPS).',NULL,NULL,NULL,NULL,NULL),(4011,'UniProt Function',NULL,5050,NULL,'Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:28805828). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:28805828). TPRKB acts as an allosteric effector that regulates the t(6)A activity of the complex. TPRKB is not required for tRNA modification (PubMed:22912744, PubMed:28805828).',NULL,NULL,NULL,NULL,NULL),(4012,'UniProt Function',NULL,5051,NULL,'May have a role in cell growth.',NULL,NULL,NULL,NULL,NULL),(4013,'UniProt Function',NULL,5053,NULL,'Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of the DGC.',NULL,NULL,NULL,NULL,NULL),(4014,'UniProt Function',NULL,5054,NULL,'Involved in the modulation of neuronal aggregation. May be involved in developmental events during the formation of the central nervous system (By similarity).',NULL,NULL,NULL,NULL,NULL),(4015,'UniProt Function',NULL,5055,NULL,'Receptor for somatostatin-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. In addition it stimulates phosphotyrosine phosphatase and PLC via pertussis toxin insensitive as well as sensitive G proteins. Inhibits calcium entry by suppressing voltage-dependent calcium channels. Acts as the functionally dominant somatostatin receptor in pancreatic alpha- and beta-cells where it mediates the inhibitory effect of somatostatin-14 on hormone secretion. Inhibits cell growth through enhancement of MAPK1 and MAPK2 phosphorylation and subsequent up-regulation of CDKN1B. Stimulates neuronal migration and axon outgrowth and may participate in neuron development and maturation during brain development. Mediates negative regulation of insulin receptor signaling through PTPN6. Inactivates SSTR3 receptor function following heterodimerization.',NULL,NULL,NULL,NULL,NULL),(4016,'UniProt Function',NULL,5056,NULL,'Receptor for somatostatin-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase.',NULL,NULL,NULL,NULL,NULL),(4017,'UniProt Function',NULL,5057,NULL,'Receptor for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase. It is functionally coupled not only to inhibition of adenylate cyclase, but also to activation of both arachidonate release and mitogen-activated protein (MAP) kinase cascade. Mediates antiproliferative action of somatostatin in tumor cells.',NULL,NULL,NULL,NULL,NULL),(4018,'UniProt Function',NULL,5058,NULL,'Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3\'-phosphoadenylyl sulfate (PAPS) as cosubstrate.',NULL,NULL,NULL,NULL,NULL),(4019,'UniProt Function',NULL,5059,NULL,'TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.',NULL,NULL,NULL,NULL,NULL),(4020,'UniProt Function',NULL,5060,NULL,'Receptor for somatostatin 28 and to a lesser extent for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. Increases cell growth inhibition activity of SSTR2 following heterodimerization.',NULL,NULL,NULL,NULL,NULL),(4021,'UniProt Function',NULL,5062,NULL,'Could be involved in signal transduction.',NULL,NULL,NULL,NULL,NULL),(4022,'UniProt Function',NULL,5063,NULL,'Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T-cell function and the regulation of humoral immunity.',NULL,NULL,NULL,NULL,NULL),(4023,'UniProt Function',NULL,5064,NULL,'Involved in pre-mRNA splicing. Remains associated with spliced mRNA after splicing which probably involves interactions with the exon junction complex (EJC). Can trigger mRNA decay which seems to be independent of nonsense-mediated decay involving premature stop codons (PTC) recognition. May be involved in nuclear mRNA decay. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45 is proposed to sequester phosphorylated SFPQ from PTPRC/CD45 pre-mRNA in resting T-cells. Involved in cyclin-D1/CCND1 mRNA stability probably by acting as component of the SNARP complex which associates with both the 3\'end of the CCND1 gene and its mRNA. Involved in response to DNA damage. Is excluced from DNA damage sites in a manner that parallels transcription inhibition; the function may involve the SNARP complex. Initially thought to play a role in transcriptional coactivation through its association with the TRAP complex; however, it is not regarded as a stable Mediator complex subunit. Cooperatively with HELZ2, enhances the transcriptional activation mediated by PPARG, maybe through the stabilization of the PPARG binding to DNA in presence of ligand. May play a role in the terminal stage of adipocyte differentiation. Plays a role in the positive regulation of the circadian clock. Acts as a coactivator of the CLOCK-ARNTL/BMAL1 heterodimer and promotes its transcriptional activator activity and binding to circadian target genes (PubMed:24043798).',NULL,NULL,NULL,NULL,NULL),(4024,'UniProt Function',NULL,5065,NULL,'Stimulatory or required for the translocation of secretory proteins across the ER membrane.',NULL,NULL,NULL,NULL,NULL),(4025,'UniProt Function',NULL,5072,NULL,'Methyltransferase that catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in various tRNAs in mitochondrion, including tRNA(Leu) (deciphering codons UUA or UUG), tRNA(Lys) and tRNA(Ser) (deciphering codons UCA, UCU, UCG or UCC) (PubMed:23097428). Catalyzes the formation of 1-methyladenosine at position 947 of mitochondrial 16S ribosomal RNA and this modification is most likely important for mitoribosomal structure and function (PubMed:27631568). In addition to tRNA N(1)-methyltransferase activity, also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA, leading to interfere with mitochondrial translation (PubMed:29107537).',NULL,NULL,NULL,NULL,NULL),(4026,'UniProt Function',NULL,5076,NULL,'The nuclear form acts as a tumor suppressor by preventing ubiquitination and degradation of isoform p19ARF/ARF of CDKN2A by TRIP12: acts by interacting with TRIP12, leading to disrupt interaction between TRIP12 and isoform p19ARF/ARF of CDKN2A (By similarity). Adapter molecule for TNFRSF1A/TNFR1 that specifically associates with the cytoplasmic domain of activated TNFRSF1A/TNFR1 mediating its interaction with FADD. Overexpression of TRADD leads to two major TNF-induced responses, apoptosis and activation of NF-kappa-B.',NULL,NULL,NULL,NULL,NULL),(4027,'UniProt Function',NULL,5077,NULL,'Regulates pathways leading to the activation of NF-kappa-B and MAP kinases, and plays a central role in the regulation of B-cell survival. Part of signaling pathways leading to the production of cytokines and interferon. Required for normal antibody isotype switching from IgM to IgG. Plays a role T-cell dependent immune responses. Plays a role in the regulation of antiviral responses. Is an essential constituent of several E3 ubiquitin-protein ligase complexes. May have E3 ubiquitin-protein ligase activity and promote \'Lys-63\'-linked ubiquitination of target proteins. Inhibits activation of NF-kappa-B in response to LTBR stimulation. Inhibits TRAF2-mediated activation of NF-kappa-B. Down-regulates proteolytic processing of NFKB2, and thereby inhibits non-canonical activation of NF-kappa-B. Promotes ubiquitination and proteasomal degradation of MAP3K14.',NULL,NULL,NULL,NULL,NULL),(4028,'UniProt Function',NULL,5078,NULL,'Adapter protein and signal transducer that links members of the tumor necrosis factor receptor (TNFR) family to different signaling pathways. Plays a role in the activation of NF-kappa-B and JNK, and in the regulation of cell survival and apoptosis. Regulates activation of NF-kappa-B in response to signaling through Toll-like receptors. Required for normal skeleton development, and for normal development of the respiratory tract (By similarity). Required for activation of RPS6KB1 in response to TNF signaling. Modulates TRAF6 functions.',NULL,NULL,NULL,NULL,NULL),(4029,'UniProt Function',NULL,5079,NULL,'E3 ubiquitin ligase that, together with UBE2N and UBE2V1, mediates the synthesis of \'Lys-63\'-linked-polyubiquitin chains conjugated to proteins, such as IKBKG, IRAK1, AKT1 and AKT2. Also mediates ubiquitination of free/unanchored polyubiquitin chain that leads to MAP3K7 activation. Leads to the activation of NF-kappa-B and JUN. May be essential for the formation of functional osteoclasts. Seems to also play a role in dendritic cells (DCs) maturation and/or activation. Represses c-Myb-mediated transactivation, in B-lymphocytes. Adapter protein that seems to play a role in signal transduction initiated via TNF receptor, IL-1 receptor and IL-17 receptor. Regulates osteoclast differentiation by mediating the activation of adapter protein complex 1 (AP-1) and NF-kappa-B, in response to RANK-L stimulation. Together with MAP3K8, mediates CD40 signals that activate ERK in B-cells and macrophages, and thus may play a role in the regulation of immunoglobulin production.',NULL,NULL,NULL,NULL,NULL),(4030,'UniProt Function',NULL,5080,NULL,'E3 ubiquitin ligase capable of auto-ubiquitination, following phosphorylation by MAP3K3. Potentiates MEKK3-mediated activation of the NF-kappa-B, JUN/AP1 and DDIT3 transcriptional regulators. Induces apoptosis when overexpressed.',NULL,NULL,NULL,NULL,NULL),(4031,'UniProt Function',NULL,5081,NULL,'E3 ubiquitin ligase acting as a negative regulator of innate immune signaling. Inhibits activation of NF-kappa-B mediated by TNF. Negatively regulates TLR3/4- and RIG-I-mediated IRF3 activation and subsequent IFNB1 production and cellular antiviral response by promoting \'Lys-48\'-linked polyubiquitination of TNK1 leading to its proteasomal degradation (By similarity) (PubMed:22945920). Involved in response to genotoxic lesions during genome replication. Promotes H2AX and RPA2 phosphorylation after replication-associated DNA damage and assists fork progression at UV-induced replication-blocking lesions during S phase (PubMed:26595769). Has also been proposed to play a role in promoting translesion synthesis by mediating the assembly of \'Lys-63\'-linked poly-ubiquitin chains on the Y-family polymerase POLN in order to facilitate bypass of DNA lesions and preserve genomic integrity (PubMed:24553286). The function in translesion synthesis is controversial (PubMed:26595769).',NULL,NULL,NULL,NULL,NULL),(4032,'UniProt Function',NULL,5082,NULL,'Constant region of T cell receptor (TR) alpha chain (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(4033,'UniProt Function',NULL,5083,NULL,'Constant region of T cell receptor (TR) beta chain (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(4034,'UniProt Function',NULL,5084,NULL,'Could act as a modulator of transcription.',NULL,NULL,NULL,NULL,NULL),(4035,'UniProt Function',NULL,5085,NULL,'Appears to function synergistically with RBM14 as a transcriptional coactivator. Isoform 1 and isoform 2 function in nuclear receptor coactivation. Isoform 1 and isoform 2 function in general transcriptional coactivation. Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058).',NULL,NULL,NULL,NULL,NULL),(4036,'UniProt Function',NULL,5087,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Is also responsible for the sulfonation and activation of minoxidil. Mediates the metabolic activation of carcinogenic N-hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk.',NULL,NULL,NULL,NULL,NULL),(4037,'UniProt Function',NULL,5088,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates dopamine, small phenols such as 1-naphthol and p-nitrophenol and thyroid hormones, including 3,3\'-diiodothyronine, triidothyronine, reverse triiodothyronine and thyroxine.',NULL,NULL,NULL,NULL,NULL),(4038,'UniProt Function',NULL,5089,NULL,'Specifically methylates cytosine 38 in the anticodon loop of tRNA(Asp).',NULL,NULL,NULL,NULL,NULL),(4039,'UniProt Function',NULL,5090,NULL,'Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats.',NULL,NULL,NULL,NULL,NULL),(4040,'UniProt Function',NULL,5091,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of estradiol and estrone. May play a role in the regulation of estrogen receptor activity by metabolizing free estradiol. Maximally sulfates beta-estradiol and estrone at concentrations of 20 nM. Also sulfates dehydroepiandrosterone, pregnenolone, ethinylestradiol, equalenin, diethylstilbesterol and 1-naphthol, at significantly higher concentrations; however, cortisol, testosterone and dopamine are not sulfated.',NULL,NULL,NULL,NULL,NULL),(4041,'UniProt Function',NULL,5092,NULL,'Phosphorylates myosin light chains (By similarity). Acts as a positive regulator of apoptosis.',NULL,NULL,NULL,NULL,NULL),(4042,'UniProt Function',NULL,5095,NULL,'Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose.',NULL,NULL,NULL,NULL,NULL),(4043,'UniProt Function',NULL,5097,NULL,'Plays a redundant role in promoting the expression of calcium channel CACNA1S at the cell membrane, and thereby contributes to increased channel activity. Slows down the inactivation rate of the calcium channel CACNA1C.',NULL,NULL,NULL,NULL,NULL),(4044,'UniProt Function',NULL,5098,NULL,'Promotes expression of the ion channel CACNA1H at the cell membrane, and thereby contributes to the regulation of channel activity. Plays a minor and redundant role in promoting the expression of calcium channel CACNA1S at the cell membrane, and thereby contributes to increased channel activity. Slows down the inactivation rate of the calcium channel CACNA1C.',NULL,NULL,NULL,NULL,NULL),(4045,'UniProt Function',NULL,5099,NULL,'Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(4046,'UniProt Function',NULL,5100,NULL,'Inhibits trypsin and plasmin, but not thrombin, coagulation factor Xa, or urokinase-type plasminogen activator.',NULL,NULL,NULL,NULL,NULL),(4047,'UniProt Function',NULL,5102,NULL,'Required for the localization of dynein and dynactin to the mitotic kintochore. Dynein is believed to control the initial lateral interaction between the kinetochore and spindle microtubules and to facilitate the subsequent formation of end-on kinetochore-microtubule attachments mediated by the NDC80 complex. Also required for correct spindle orientation. Does not appear to be required for the removal of spindle assembly checkpoint (SAC) proteins from the kinetochore upon bipolar spindle attachment (PubMed:17576797, PubMed:19468067). Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (PubMed:25035494).',NULL,NULL,NULL,NULL,NULL),(4048,'UniProt Function',NULL,5103,NULL,'May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss.',NULL,NULL,NULL,NULL,NULL),(4049,'UniProt Function',NULL,5105,NULL,'May be an angiogenesis inhibitor.',NULL,NULL,NULL,NULL,NULL),(4050,'UniProt Function',NULL,5106,NULL,'Microtubule-associated protein involved in the stabilization of microtubules along the axis of migration during radial intercalation. Promotes the establishment and stabilization of an axis of microtubules required for the active migration of cells into the outer epithelium (By similarity). Microtubule-associated protein that promotes microtubule bundling and stabilizes microtubules against depolymerization in response to cold shock (By similarity).',NULL,NULL,NULL,NULL,NULL),(4051,'UniProt Function',NULL,5107,NULL,'Required for correct axoneme development in spermatozoa. Important for normal development of the manchette and sperm head morphology. Essential for male fertility. Plays a role in localization of the intraflagellar transport protein IFT20 to the manchette, suggesting function as an adapter for dynein-mediated protein transport during spermatogenesis. Also plays a role in bone growth where it seems to be required for normal osteoblast differentiation.',NULL,NULL,NULL,NULL,NULL),(4052,'UniProt Function',NULL,5108,NULL,'Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-dihydrosphingosine, D-erythro-sphingosine and L-threo-dihydrosphingosine. Binds phosphoinositides.',NULL,NULL,NULL,NULL,NULL),(4053,'UniProt Function',NULL,5109,NULL,'Splice factor that binds to the single-stranded 3\'AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia.',NULL,NULL,NULL,NULL,NULL),(4054,'UniProt Function',NULL,5110,NULL,'Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function with TOR1B in non-neural tissues.',NULL,NULL,NULL,NULL,NULL),(4055,'UniProt Function',NULL,5111,NULL,'May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. Plays a role in non-neural cells nuclear envelope and endoplasmic reticulum integrity. May have a redundant function with TOR1A in non-neural tissues.',NULL,NULL,NULL,NULL,NULL),(4056,'UniProt Function',NULL,5112,NULL,'Prion-like protein that has PrP(C)-like neuroprotective activity. May act as a modulator for the biological actions of normal and abnormal PrP (By similarity).',NULL,NULL,NULL,NULL,NULL),(4057,'UniProt Function',NULL,5113,NULL,'Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(4058,'UniProt Function',NULL,5115,NULL,'Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity.',NULL,NULL,NULL,NULL,NULL),(4059,'UniProt Function',NULL,5117,NULL,'Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820, PubMed:21199876). Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2 (PubMed:21199876). Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5 (PubMed:21199876).',NULL,NULL,NULL,NULL,NULL),(4060,'UniProt Function',NULL,5118,NULL,'Meiosis-specific protein required for homologous recombination in meiosis I.',NULL,NULL,NULL,NULL,NULL),(4061,'UniProt Function',NULL,5119,NULL,'Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:21199876, PubMed:15601820). Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2 (PubMed:21199876). Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5 (PubMed:21199876). Diminishes EphB2-dependent cell repulsive responses by mediating the ubiquitination and degradation of EphB2/CTF2 (PubMed:28931592). Regulates cellular clock function by mediating the ubiquitin/proteasome-dependent degradation of the circadian transcriptional repressor NR1D1 (PubMed:26392558).',NULL,NULL,NULL,NULL,NULL),(4062,'UniProt Function',NULL,5120,NULL,'Histone chaperone that stabilizes pre-existing histone tetramers and regulates replication-independent histone exchange on chromatin (PubMed:26109053). Required for normal chromatin refolding in the coding region of transcribed genes, and for the suppression of spurious transcription (PubMed:26109053). Binds DNA and histones and promotes nucleosome assembly (in vitro) (PubMed:23378026, PubMed:26109053). Facilitates formation of tetrameric histone complexes containing histone H3 and H4 (PubMed:26109053). Modulates RNA polymerase 1-mediated transcription (By similarity). Binds DNA, with a preference for branched DNA species, such as Y-form DNA and Holliday junction DNA (PubMed:23378026).',NULL,NULL,NULL,NULL,NULL),(4063,'UniProt Function',NULL,5121,NULL,'Catalytic subunit of an S-adenosyl-L-methionine-dependent tRNA methyltransferase complex that mediates the methylation of the guanosine nucleotide at position 10 (m2G10) in tRNAs.',NULL,NULL,NULL,NULL,NULL),(4064,'UniProt Function',NULL,5122,NULL,'tRNA methylase which 2\'-O-methylates cytidine(4) in tRNA(Pro) and tRNA(Gly)(GCC), and adenosine(4) in tRNA(His).',NULL,NULL,NULL,NULL,NULL),(4065,'UniProt Function',NULL,5123,NULL,'Dimethylates a single guanine residue at position 26 of most tRNAs using S-adenosyl-L-methionine as donor of the methyl groups.',NULL,NULL,NULL,NULL,NULL),(4066,'UniProt Function',NULL,5124,NULL,'May be involved in nucleic acid metabolism and/or modifications.',NULL,NULL,NULL,NULL,NULL),(4067,'UniProt Function',NULL,5125,NULL,'Receptor for succinate.',NULL,NULL,NULL,NULL,NULL),(4068,'UniProt Function',NULL,5126,NULL,'Involved in mitochondrial tRNA methylation (PubMed:26189817). Specifically methylates the N1 position of guanosine-37 in various tRNAs. Methylation is not dependent on the nature of the nucleoside 5\' of the target nucleoside. This is the first step in the biosynthesis of wybutosine (yW), a modified base adjacent to the anticodon of tRNAs and required for accurate decoding.',NULL,NULL,NULL,NULL,NULL),(4069,'UniProt Function',NULL,5127,NULL,'Substrate-binding subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA (PubMed:16043508). Together with the TRMT61A catalytic subunit, part of a mRNA N(1)-methyltransferase complex that mediates methylation of adenosine residues at the N(1) position of a small subset of mRNAs: N(1) methylation takes place in tRNA T-loop-like structures of mRNAs and is only present at low stoichiometries (PubMed:29107537, PubMed:29072297).',NULL,NULL,NULL,NULL,NULL),(4070,'UniProt Function',NULL,5128,NULL,'Plays a role in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(4071,'UniProt Function',NULL,5129,NULL,'Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin. Diminishes HSPG (heparan sulfate proteoglycans) sulfation, inhibits signaling by heparin-dependent growth factors, diminishes proliferation, and facilitates apoptosis in response to exogenous stimulation.',NULL,NULL,NULL,NULL,NULL),(4072,'UniProt Function',NULL,5130,NULL,'Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin.',NULL,NULL,NULL,NULL,NULL),(4073,'UniProt Function',NULL,5131,NULL,'Ubiquitin-like protein which can be covalently attached to target lysines as a monomer. Does not seem to be involved in protein degradation and may modulate protein subcellular localization, stability or activity. Upon oxidative stress, conjugates to various anti-oxidant enzymes, chaperones, and stress defense proteins. May also conjugate to NFKBIA, TFAP2A and FOS, negatively regulating their transcriptional activity, and to NR3C1, positively regulating its transcriptional activity. Covalent attachment to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I.',NULL,NULL,NULL,NULL,NULL),(4074,'UniProt Function',NULL,5132,NULL,'As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton (PubMed:18039933, PubMed:18396275). The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration (By similarity). Involved in telomere attachment to nuclear envelope in the prophase of meiosis implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly (By similarity). Required for gametogenesis and involved in selective gene expression of coding and non-coding RNAs needed for gametogenesis (By similarity). Helps to define the distribution of nuclear pore complexes (NPCs) (By similarity). Required for efficient localization of SYNE4 in the nuclear envelope (By similarity). May be involved in nuclear remodeling during sperm head formation in spermatogenenis (By similarity). May play a role in DNA repair by suppressing non-homologous end joining repair to facilitate the repair of DNA cross-links (PubMed:24375709).',NULL,NULL,NULL,NULL,NULL),(4075,'UniProt Function',NULL,5133,NULL,'As a probable component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nuclear remodeling during sperm head formation in spermatogenenis. A probable SUN3:SYNE1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette.',NULL,NULL,NULL,NULL,NULL),(4076,'UniProt Function',NULL,5134,NULL,'May play a role in the maintenance of the architecture of the endoplasmic reticulum-Golgi intermediate compartment and of the Golgi.',NULL,NULL,NULL,NULL,NULL),(4077,'UniProt Function',NULL,5136,NULL,'May play a role in growth-suppressive activity and cell death (PubMed:24652652). May be involved in the production of chemokine molecules in umbilical vein endothelial cells (HUVECs) cultured in THP1 monocyte LPS-induced medium (PubMed:20236627). Plays a role in preventing tumor onset (By similarity).',NULL,NULL,NULL,NULL,NULL),(4078,'UniProt Function',NULL,5138,NULL,'Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A-dependent recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be indepenedent of VPS33B (PubMed:19109425). May play a role in vesicular trafficking during spermatogenesis (By similarity). May be involved in direct or indirect transcriptional regulation of E-cadherin (By similarity).',NULL,NULL,NULL,NULL,NULL),(4079,'UniProt Function',NULL,5139,NULL,'Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:14738735). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:14738735). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020).',NULL,NULL,NULL,NULL,NULL),(4080,'UniProt Function',NULL,5140,NULL,'May play a role in the proliferation or differentiation of keratinocytes.',NULL,NULL,NULL,NULL,NULL),(4081,'UniProt Function',NULL,5143,NULL,'Salusins -alpha and -beta may be endocrine and/or paracrine factors able to increase intracellular calcium concentrations and induce cell mitogenesis. Salusins may also be potent hypotensive peptides.',NULL,NULL,NULL,NULL,NULL),(4082,'UniProt Function',NULL,5145,NULL,'Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1). Induces microspike formation, in vivo (By similarity). In vitro, stimulates N-WASP-induced ARP2/3 complex activation in the absence of CDC42 (By similarity). May play an important role in the maintenance of sarcomeres and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell adhesion. Plays a role in angiogenesis.',NULL,NULL,NULL,NULL,NULL),(4083,'UniProt Function',NULL,5146,NULL,'Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820, PubMed:21199876). Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2 (PubMed:21199876). Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5 (PubMed:21199876).',NULL,NULL,NULL,NULL,NULL),(4084,'UniProt Function',NULL,5147,NULL,'Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane protein substrates in or close to their luminal transmembrane domain boundaries (PubMed:16873890, PubMed:25354954, PubMed:25827571). Acts like a sheddase by mediating the proteolytic release and secretion of active site-containing ectodomains of glycan-modifiying glycosidase and glycosyltransferase enzymes such as MGAT5, B4GAT1 and B4GALT1 (PubMed:25354954, PubMed:25827571). Catalyzes the intramembrane cleavage of the envelope glycoprotein gp130 and/or the leader peptide gp18LP of the simian foamy virus independent of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852). May also have the ability to serve as a shedding protease for subsequent intramembrane proteolysis by SPPL2A and SPPL2B of the envelope glycoprotein gp130 (PubMed:23132852). Plays a role in the regulation of cellular glycosylation processes (PubMed:25354954). Required to link T-cell antigen receptor (TCR) and calcineurin-NFAT signaling cascades in lymphocytes by promoting the association of STIM1 and ORAI1 during store-operated calcium entry (SOCE) in a protease-independent manner (PubMed:25384971).',NULL,NULL,NULL,NULL,NULL),(4085,'UniProt Function',NULL,5148,NULL,'Sphingolipid transporter required for migration of myocardial precursors. Transports sphingosine 1-phosphate (S1P), a secreted lipid mediator that plays critical roles in cardiovascular, immunological, and neural development and function. Mediates the export of S1P from cells in the extraembryonic yolk syncytial layer (YSL), thereby regulating myocardial precursor migration.',NULL,NULL,NULL,NULL,NULL),(4086,'UniProt Function',NULL,5149,NULL,'Sphingolipid transporter.',NULL,NULL,NULL,NULL,NULL),(4087,'UniProt Function',NULL,5151,NULL,'Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA.',NULL,NULL,NULL,NULL,NULL),(4088,'UniProt Function',NULL,5152,NULL,'Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.',NULL,NULL,NULL,NULL,NULL),(4089,'UniProt Function',NULL,5153,NULL,'May regulate the transcriptional function of androgen and estrogen receptors.',NULL,NULL,NULL,NULL,NULL),(4090,'UniProt Function',NULL,5154,NULL,'Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference.',NULL,NULL,NULL,NULL,NULL),(4091,'UniProt Function',NULL,5157,NULL,'Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. Stimulates E2F1/TFDP1 transcriptional activity. Renders the activity of cyclin D1/CDK4 resistant to the inhibitory effects of CDKN2A/p16INK4A.',NULL,NULL,NULL,NULL,NULL),(4092,'UniProt Function',NULL,5159,NULL,'Forms a receptor signaling complex with TYROBP and triggers activation of the immune responses in macrophages and dendritic cells. May have a role in chronic inflammations and may stimulate production of constitutive rather than inflammatory chemokines and cytokines.',NULL,NULL,NULL,NULL,NULL),(4093,'UniProt Function',NULL,5160,NULL,'Carries out a dual function: signal transduction and activation of transcription. Involved in IL12 signaling.',NULL,NULL,NULL,NULL,NULL),(4094,'UniProt Function',NULL,5161,NULL,'Carries out a dual function: signal transduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signaling.',NULL,NULL,NULL,NULL,NULL),(4095,'UniProt Function',NULL,5162,NULL,'Serine/threonine-protein kinase that acts on both serine and threonine residues and promotes apoptosis in response to stress stimuli and caspase activation. Mediates oxidative-stress-induced cell death by modulating phosphorylation of JNK1-JNK2 (MAPK8 and MAPK9), p38 (MAPK11, MAPK12, MAPK13 and MAPK14) during oxidative stress. Plays a role in a staurosporine-induced caspase-independent apoptotic pathway by regulating the nuclear translocation of AIFM1 and ENDOG and the DNase activity associated with ENDOG. Phosphorylates STK38L on \'Thr-442\' and stimulates its kinase activity. In association with STK26 negatively regulates Golgi reorientation in polarized cell migration upon RHO activation (PubMed:27807006). Regulates also cellular migration with alteration of PTPN12 activity and PXN phosphorylation: phosphorylates PTPN12 and inhibits its activity and may regulate PXN phosphorylation through PTPN12. May act as a key regulator of axon regeneration in the optic nerve and radial nerve.',NULL,NULL,NULL,NULL,NULL),(4096,'UniProt Function',NULL,5164,NULL,'Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors (PubMed:10806483). Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization (PubMed:10806483). GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur (PubMed:10806483). Required for postnatal development, possibly by regulating the homeostasis of cerebral spinal fluid or ciliary function (By similarity). Essential for construction of the central pair apparatus of motile cilia.',NULL,NULL,NULL,NULL,NULL),(4097,'UniProt Function',NULL,5165,NULL,'Negative regulator of MAP3K1/2 signaling. Converts MAP3K2 from its phosphorylated form to its non-phosphorylated form and inhibits autophosphorylation of MAP3K2.',NULL,NULL,NULL,NULL,NULL),(4098,'UniProt Function',NULL,5166,NULL,'Regulator of microtubule stability. When phosphorylated by MAPK8, stabilizes microtubules and consequently controls neurite length in cortical neurons. In the developing brain, negatively regulates the rate of exit from multipolar stage and retards radial migration from the ventricular zone (By similarity).',NULL,NULL,NULL,NULL,NULL),(4099,'UniProt Function',NULL,5167,NULL,'May be a negative regulator of NF-kappa-B and p53-mediated gene transcription.',NULL,NULL,NULL,NULL,NULL),(4100,'UniProt Function',NULL,5168,NULL,'V region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714).',NULL,NULL,NULL,NULL,NULL),(4101,'UniProt Function',NULL,5169,NULL,'Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. STK3/MST2 and STK4/MST1 are required to repress proliferation of mature hepatocytes, to prevent activation of facultative adult liver stem cells (oval cells), and to inhibit tumor formation (By similarity). Phosphorylates \'Ser-14\' of histone H2B (H2BS14ph) during apoptosis. Phosphorylates FOXO3 upon oxidative stress, which results in its nuclear translocation and cell death initiation. Phosphorylates MOBKL1A, MOBKL1B and RASSF2. Phosphorylates TNNI3 (cardiac Tn-I) and alters its binding affinity to TNNC1 (cardiac Tn-C) and TNNT2 (cardiac Tn-T). Phosphorylates FOXO1 on \'Ser-212\' and regulates its activation and stimulates transcription of PMAIP1 in a FOXO1-dependent manner. Phosphorylates SIRT1 and inhibits SIRT1-mediated p53/TP53 deacetylation, thereby promoting p53/TP53 dependent transcription and apoptosis upon DNA damage. Acts as an inhibitor of PKB/AKT1. Phosphorylates AR on \'Ser-650\' and suppresses its activity by intersecting with PKB/AKT1 signaling and antagonizing formation of AR-chromatin complexes.',NULL,NULL,NULL,NULL,NULL),(4102,'UniProt Function',NULL,5170,NULL,'Required for the function of many mechanoreceptors. Modulate mechanotransduction channels and acid-sensing ion channels (ASIC) proteins. Potentiates PIEZO1 and PIEZO2 function by increasing their sensitivity to mechanical stimulations.',NULL,NULL,NULL,NULL,NULL),(4103,'UniProt Function',NULL,5172,NULL,'Seems to play an important role in erythropoiesis.',NULL,NULL,NULL,NULL,NULL),(4104,'UniProt Function',NULL,5173,NULL,'E3 ubiquitin-protein ligase that promotes the degradation of insoluble ubiquitinated proteins, including insoluble PAX6, poly-Gln repeat expanded HTT and poly-Ala repeat expanded ARX. Mediates PAX6 ubiquitination leading to proteasomal degradation, thereby modulating cortical neurogenesis. May also inhibit PAX6 transcriptional activity, possibly in part by preventing the binding of PAX6 to its consensus sequences. May contribute to the regulation of the intracellular level of HN (humanin) or HN-containing proteins through the proteasomal degradation pathway. Mediates MED15 ubiquitination leading to proteasomal degradation. May contribute to the innate restriction of retroviruses. Upon overexpression, reduces HIV-1 and murine leukemia virus infectivity, by suppressing viral gene expression. Antiviral activity depends on a functional E3 ubiquitin-protein ligase domain. May regulate TRIM5 turnover via the proteasome pathway, thus counteracting the TRIM5-mediated cross-species restriction of retroviral infection at early stages of the retroviral life cycle.',NULL,NULL,NULL,NULL,NULL),(4105,'UniProt Function',NULL,5174,NULL,'Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation (By similarity).',NULL,NULL,NULL,NULL,NULL),(4106,'UniProt Function',NULL,5175,NULL,'Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.',NULL,NULL,NULL,NULL,NULL),(4107,'UniProt Function',NULL,5177,NULL,'May be a cytokine receptor for C10ORF99. May be a tumor suppressor; together with C10ORF99 has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest (PubMed:25351403). May play a role in breast tumorigenesis (PubMed:23131994).',NULL,NULL,NULL,NULL,NULL),(4108,'UniProt Function',NULL,5178,NULL,'May play a role in breast tumorigenesis by promoting estrogen-dependent cell proliferation, cell-cell interactions and migration.',NULL,NULL,NULL,NULL,NULL),(4109,'UniProt Function',NULL,5179,NULL,'Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination (By similarity).',NULL,NULL,NULL,NULL,NULL),(4110,'UniProt Function',NULL,5180,NULL,'Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.',NULL,NULL,NULL,NULL,NULL),(4111,'UniProt Function',NULL,5182,NULL,'Exhibits transcriptional repressor activity (By similarity). Acts as a TGF-beta antagonist in the nervous system.',NULL,NULL,NULL,NULL,NULL),(4112,'UniProt Function',NULL,5183,NULL,'May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN).',NULL,NULL,NULL,NULL,NULL),(4113,'UniProt Function',NULL,5185,NULL,'Probable ion channel required for the normal function of cochlear hair cells.',NULL,NULL,NULL,NULL,NULL),(4114,'UniProt Function',NULL,5186,NULL,'Probable ion channel.',NULL,NULL,NULL,NULL,NULL),(4115,'UniProt Function',NULL,5187,NULL,'Probable ion channel.',NULL,NULL,NULL,NULL,NULL),(4116,'UniProt Function',NULL,5189,NULL,'GTPase activating protein that acts on ARF1. Can also activate ARF6 (in vitro). May play a role in clathrin-dependent retrograde transport from early endosomes to the trans-Golgi network (By similarity).',NULL,NULL,NULL,NULL,NULL),(4117,'UniProt Function',NULL,5190,NULL,'Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through non-specific electrostatic contacts with RNA (Probable).',NULL,NULL,NULL,NULL,NULL),(4118,'UniProt Function',NULL,5191,NULL,'Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:28781166). Regulates alternative splicing of the HSPG2 pre-mRNA (By similarity). Required for normal accumulation of IK (PubMed:24945353). Required for normal mitotic spindle assembly and normal progress through mitosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(4119,'UniProt Function',NULL,5191,NULL,'(Microbial infection) Required, together with IK, for normal splicing of influenza A virus NS1 pre-mRNA, which is required for the production of the exportin NS2 and for the production of influenza A virus particles. Not required for the production of VSV virus particles.',NULL,NULL,NULL,NULL,NULL),(4120,'UniProt Function',NULL,5192,NULL,'May be involved in intracellular transport.',NULL,NULL,NULL,NULL,NULL),(4121,'UniProt Function',NULL,5193,NULL,'Promotes matrix assembly and cell adhesiveness (By similarity). Can stimulate endothelial cell proliferation, migration, as well as angiogenesis.',NULL,NULL,NULL,NULL,NULL),(4122,'UniProt Function',NULL,5195,NULL,'Down-regulates NF-kappa-B signaling by competing with RELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA) biogenesis. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3\'end of the CCND1 gene and its mRNA.',NULL,NULL,NULL,NULL,NULL),(4123,'UniProt Function',NULL,5196,NULL,'Seems to inhibit myoblast differentiation. Transcriptional repressor of E-box-dependent transactivation of downstream myogenic bHLHs genes. Binds preferentially to the canonical E-box sequences 5\'-CAGGTG-3\' and 5\'-CACCTG-3\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(4124,'UniProt Function',NULL,5197,NULL,'May be involved in several stages of intracellular trafficking. May play a role in endosome homeostasis (By similarity). Acts as a GAP for Galphas.',NULL,NULL,NULL,NULL,NULL),(4125,'UniProt Function',NULL,5198,NULL,'May act as a protease inhibitor to modulate the host immune response against tumor cells.',NULL,NULL,NULL,NULL,NULL),(4126,'UniProt Function',NULL,5199,NULL,'B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response.',NULL,NULL,NULL,NULL,NULL),(4127,'UniProt Function',NULL,5201,NULL,'May play a role in apoptosis (PubMed:28688764, PubMed:19969290). Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed (PubMed:16530727).',NULL,NULL,NULL,NULL,NULL),(4128,'UniProt Function',NULL,5202,NULL,'Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(4129,'UniProt Function',NULL,5203,NULL,'Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Can either activate or suppress exon inclusion. Acts additively with RBMX to promote exon 7 inclusion of the survival motor neuron SMN2. Activates the splicing of MAPT/Tau exon 10. Alters pre-mRNA splicing patterns by antagonizing the effects of splicing regulators, like RBMX. Binds to the AG-rich SE2 domain in the SMN exon 7 RNA. Binds to pre-mRNA.',NULL,NULL,NULL,NULL,NULL),(4130,'UniProt Function',NULL,5204,NULL,'Constant region of T cell receptor (TR) alpha chain (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(4131,'UniProt Function',NULL,5205,NULL,'Negative feedback regulator that controls excessive innate immune responses. Regulates both Toll-like receptor 4 (TLR4) and DDX58/RIG1-like helicases (RLH) pathways. May inhibit the LTR pathway by direct interaction with TRAF6 and attenuation of NF-kappa-B activation. May negatively regulate the RLH pathway downstream from MAVS and upstream of NF-kappa-B and IRF3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4132,'UniProt Function',NULL,5206,NULL,'Adapter molecule that regulates the activation of NF-kappa-B and JNK. Plays a role in the regulation of cell survival and apoptosis. The heterotrimer formed by TRAF1 and TRAF2 is part of a E3 ubiquitin-protein ligase complex that promotes ubiquitination of target proteins, such as MAP3K14. The TRAF1/TRAF2 complex recruits the antiapoptotic E3 protein-ubiquitin ligases BIRC2 and BIRC3 to TNFRSF1B/TNFR2.',NULL,NULL,NULL,NULL,NULL),(4133,'UniProt Function',NULL,5207,NULL,'Regulates activation of NF-kappa-B and JNK and plays a central role in the regulation of cell survival and apoptosis. Required for normal antibody isotype switching from IgM to IgG. Has E3 ubiquitin-protein ligase activity and promotes \'Lys-63\'-linked ubiquitination of target proteins, such as BIRC3, RIPK1 and TICAM1. Is an essential constituent of several E3 ubiquitin-protein ligase complexes, where it promotes the ubiquitination of target proteins by bringing them into contact with other E3 ubiquitin ligases. Regulates BIRC2 and BIRC3 protein levels by inhibiting their autoubiquitination and subsequent degradation; this does not depend on the TRAF2 RING-type zinc finger domain. Plays a role in mediating activation of NF-kappa-B by EIF2AK2/PKR. In complex with BIRC2 or BIRC3, promotes ubiquitination of IKBKE.',NULL,NULL,NULL,NULL,NULL),(4134,'UniProt Function',NULL,5208,NULL,'Adapter protein and signal transducer that links members of the tumor necrosis factor receptor family to different signaling pathways by association with the receptor cytoplasmic domain and kinases. Mediates activation of NF-kappa-B and probably JNK. Seems to be involved in apoptosis. Plays a role in mediating activation of NF-kappa-B by EIF2AK2/PKR.',NULL,NULL,NULL,NULL,NULL),(4135,'UniProt Function',NULL,5209,NULL,'May regulate endosome-to-lysosome trafficking of membrane cargo, including EGFR.',NULL,NULL,NULL,NULL,NULL),(4136,'UniProt Function',NULL,5210,NULL,'Stimulatory or required for the translocation of secretory proteins across the ER membrane.',NULL,NULL,NULL,NULL,NULL),(4137,'UniProt Function',NULL,5211,NULL,'Thrombomodulin is a specific endothelial cell receptor that forms a 1:1 stoichiometric complex with thrombin. This complex is responsible for the conversion of protein C to the activated protein C (protein Ca). Once evolved, protein Ca scissions the activated cofactors of the coagulation mechanism, factor Va and factor VIIIa, and thereby reduces the amount of thrombin generated.',NULL,NULL,NULL,NULL,NULL),(4138,'UniProt Function',NULL,5212,NULL,'Required for formation of the RNA induced silencing complex (RISC). Component of the RISC loading complex (RLC), also known as the micro-RNA (miRNA) loading complex (miRLC), which is composed of DICER1, AGO2 and TARBP2. Within the RLC/miRLC, DICER1 and TARBP2 are required to process precursor miRNAs (pre-miRNAs) to mature miRNAs and then load them onto AGO2. AGO2 bound to the mature miRNA constitutes the minimal RISC and may subsequently dissociate from DICER1 and TARBP2. May also play a role in the production of short interfering RNAs (siRNAs) from double-stranded RNA (dsRNA) by DICER1. Binds to the HIV-1 TAR RNA which is located in the long terminal repeat (LTR) of HIV-1, and stimulates translation of TAR-containing RNAs. This is achieved in part at least by binding to and inhibiting EIF2AK2/PKR, thereby reducing phosphorylation and inhibition of EIF2S1/eIF-2-alpha. May also promote translation of TAR-containing RNAs independently of EIF2AK2/PKR.',NULL,NULL,NULL,NULL,NULL),(4139,'UniProt Function',NULL,5213,NULL,'Component of the synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for centromere pairing during meiosis in male germ cells (By similarity). Required for normal meiosis during spermatogenesis and male fertility (PubMed:14643120). Plays a lesser role in female fertility. Required for efficient phosphorylation of HORMAD1 and HORMAD2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4140,'UniProt Function',NULL,5214,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.',NULL,NULL,NULL,NULL,NULL),(4141,'UniProt Function',NULL,5215,NULL,'Functions as a transcriptional activator in a promoter context-dependent manner. Modulates the placental expression of CYP11A1. Involved in regulation of the alpha-globin gene in erythroid cells. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with TFCP2 (By similarity). Involved in regulation of the alpha-globin gene in erythroid cells. Binds strongly to sequences around the HIV-1 initiation site and weakly over the TATA-box. Represses HIV-1 transcription by inhibiting the binding of TFIID to the TATA-box.',NULL,NULL,NULL,NULL,NULL),(4142,'UniProt Function',NULL,5218,NULL,'Deubiquitinase that mediates deubiquitination of target proteins such as BECN1, MITF, SKP2 and USP10 and is involved in various processes such as autophagy and endoplasmic reticulum-associated degradation (ERAD). Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN1, a key regulator of autophagy, leading to stabilize the PIK3C3/VPS34-containing complexes. Also deubiquitinates USP10, an essential regulator of p53/TP53 stability. In turn, PIK3C3/VPS34-containing complexes regulate USP13 stability, suggesting the existence of a regulatory system by which PIK3C3/VPS34-containing complexes regulate p53/TP53 protein levels via USP10 and USP13. Recruited by nuclear UFD1 and mediates deubiquitination of SKP2, thereby regulating endoplasmic reticulum-associated degradation (ERAD). Also regulates ERAD through the deubiquitination of UBL4A a component of the BAG6/BAT3 complex. Mediates stabilization of SIAH2 independently of deubiquitinase activity: binds ubiquitinated SIAH2 and acts by impairing SIAH2 autoubiquitination. Has a weak deubiquitinase activity in vitro and preferentially cleaves \'Lys-63\'-linked polyubiquitin chains. In contrast to USP5, it is not able to mediate unanchored polyubiquitin disassembly. Able to cleave ISG15 in vitro; however, additional experiments are required to confirm such data.',NULL,NULL,NULL,NULL,NULL),(4143,'UniProt Function',NULL,5219,NULL,'Proteasome-associated deubiquitinase which releases ubiquitin from the proteasome targeted ubiquitinated proteins. Ensures the regeneration of ubiquitin at the proteasome. Is a reversibly associated subunit of the proteasome and a large fraction of proteasome-free protein exists within the cell. Required for the degradation of the chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis. Serves also as a physiological inhibitor of endoplasmic reticulum-associated degradation (ERAD) under the non-stressed condition by inhibiting the degradation of unfolded endoplasmic reticulum proteins via interaction with ERN1. Indispensable for synaptic development and function at neuromuscular junctions (NMJs). Plays a role in the innate immune defense against viruses by stabilizing the viral DNA sensor CGAS and thus inhibiting its autophagic degradation.',NULL,NULL,NULL,NULL,NULL),(4144,'UniProt Function',NULL,5220,NULL,'As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Behaves as a kinesin cargo, providing a functional binding site for kinesin-1 at the nuclear envelope. Hence may contribute to the establishment of secretory epithelial morphology by promoting kinesin-dependent apical migration of the centrosome and Golgi apparatus and basal localization of the nucleus (By similarity).',NULL,NULL,NULL,NULL,NULL),(4145,'UniProt Function',NULL,5221,NULL,'Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:27435091). Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4146,'UniProt Function',NULL,5222,NULL,'Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2 (PubMed:15694335). Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA (PubMed:16531995). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity (PubMed:18082604, PubMed:26388029).',NULL,NULL,NULL,NULL,NULL),(4147,'UniProt Function',NULL,5223,NULL,'Intrinsic membrane protein of small synaptic vesicles. Probable vesicular channel protein (By similarity).',NULL,NULL,NULL,NULL,NULL),(4148,'UniProt Function',NULL,5224,NULL,'Deubiquitinates histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Deubiquitination of histone H2A releaves the repression of di- and trimethylation of histone H3 at \'Lys-4\', resulting in regulation of transcriptional initiation. Regulates gene expression via histone H2A deubiquitination (By similarity). Also capable of removing NEDD8 from NEDD8 conjugates but has no effect on Sentrin-1 conjugates (PubMed:10799498). Deubiquitinates BAZ2A/TIP5 leading to its stabilization (PubMed:26100909).',NULL,NULL,NULL,NULL,NULL),(4149,'UniProt Function',NULL,5226,NULL,'Deubiquitinase that can reduce the levels of BCL2L11/BIM ubiquitination and stabilize BCL2L11 in response to the RAF-MAPK-degradation signal. By acting on BCL2L11 levels, may counteract the anti-apoptotic effects of MAPK activity.',NULL,NULL,NULL,NULL,NULL),(4150,'UniProt Function',NULL,5228,NULL,'Deubiquitinating enzyme tethered to the mitochondrial outer membrane that acts as a key inhibitor of mitophagy by counteracting the action of parkin (PRKN): hydrolyzes ubiquitin attached by parkin on target proteins, such as RHOT1/MIRO1 and TOMM20, thereby blocking parkin\'s ability to drive mitophagy (PubMed:18287522, PubMed:24896179, PubMed:25527291, PubMed:25621951). Preferentially cleaves \'Lys-6\'- and \'Lys-11\'-linked polyubiquitin chains, 2 types of linkage that participate to mitophagic signaling (PubMed:25621951). Does not cleave efficiently polyubiquitin phosphorylated at \'Ser-65\' (PubMed:25527291). Acts as negative regulator of mitochondrial fusion by mediating deubiquitination of MFN1 and MFN2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4151,'UniProt Function',NULL,5229,NULL,'Deubiquitinase that antagonizes the anaphase-promoting complex (APC/C) during G1/S transition by mediating deubiquitination of cyclin-A (CCNA1 and CCNA2), thereby promoting S phase entry. Specifically mediates deubiquitination of \'Lys-11\'-linked polyubiquitin chains, a specific ubiquitin-linkage type mediated by the APC/C complex. Also mediates deubiquitination of \'Lys-48\'-linked polyubiquitin chains in vitro. Phosphorylation at Ser-628 during G1/S phase maximizes the deubiquitinase activity, leading to prevent degradation of cyclin-A (CCNA1 and CCNA2) (PubMed:21596315). Plays an important role in the regulation of DNA replication by stabilizing the licensing factor CDT1 (PubMed:27296872).',NULL,NULL,NULL,NULL,NULL),(4152,'UniProt Function',NULL,5230,NULL,'Hydrolase that deubiquitinates monoubiquitinated target proteins such as histone H2A and H2B. Required for proper progression through S phase and subsequent mitotic entry. May regulate the DNA damage response (DDR) checkpoint through deubiquitination of H2A at DNA damage sites. Associates with the chromatin.',NULL,NULL,NULL,NULL,NULL),(4153,'UniProt Function',NULL,5231,NULL,'Has no peptidase activity.',NULL,NULL,NULL,NULL,NULL),(4154,'UniProt Function',NULL,5232,NULL,'Cleaves linear and branched multiubiquitin polymers with a marked preference for branched polymers. Involved in unanchored \'Lys-48\'-linked polyubiquitin disassembly. Binds linear and \'Lys-63\'-linked polyubiquitin with a lower affinity. Knock-down of USP5 causes the accumulation of p53/TP53 and an increase in p53/TP53 transcriptional activity because the unanchored polyubiquitin that accumulates is able to compete with ubiquitinated p53/TP53 but not with MDM2 for proteasomal recognition.',NULL,NULL,NULL,NULL,NULL),(4155,'UniProt Function',NULL,5233,NULL,'Hydrolase that deubiquitinates target proteins such as FOXO4, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX (PubMed:11923872, PubMed:15053880, PubMed:16964248, PubMed:18716620, PubMed:25283148, PubMed:26678539). Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation (PubMed:15053880, PubMed:16845383, PubMed:18566590, PubMed:20153724). Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53-dependent transcription regulation, cell growth repression and apoptosis (PubMed:25283148). Deubiquitinates p53/TP53 and MDM2 and strongly stabilizes p53/TP53 even in the presence of excess MDM2, and also induces p53/TP53-dependent cell growth repression and apoptosis (PubMed:11923872). Deubiquitination of FOXO4 in presence of hydrogen peroxide is not dependent on p53/TP53 and inhibits FOXO4-induced transcriptional activity (PubMed:16964248). In association with DAXX, is involved in the deubiquitination and translocation of PTEN from the nucleus to the cytoplasm, both processes that are counteracted by PML (PubMed:18716620). Deubiquitinates KMT2E/MLL5 preventing KMT2E/MLL5 proteasomal-mediated degradation (PubMed:26678539). Involved in cell proliferation during early embryonic development. Involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage: recruited to DNA damage sites following interaction with KIAA1530/UVSSA and promotes deubiquitination of ERCC6, preventing UV-induced degradation of ERCC6 (PubMed:22466611, PubMed:22466612). Involved in maintenance of DNA methylation via its interaction with UHRF1 and DNMT1: acts by mediating deubiquitination of UHRF1 and DNMT1, preventing their degradation and promoting DNA methylation by DNMT1 (PubMed:21745816, PubMed:22411829). Deubiquitinates alkylation repair enzyme ALKBH3. OTUD4 recruits USP7 and USP9X to stabilize ALKBH3, thereby promoting the repair of alkylated DNA lesions (PubMed:25944111). Acts as a chromatin regulator via its association with the Polycomb group (PcG) multiprotein PRC1-like complex; may act by deubiquitinating components of the PRC1-like complex (PubMed:20601937). Able to mediate deubiquitination of histone H2B; it is however unsure whether this activity takes place in vivo (PubMed:20601937). Exhibits a preference towards \'Lys-48\'-linked ubiquitin chains (PubMed:22689415). Increases regulatory T-cells (Treg) suppressive capacity by deubiquitinating and stabilizing the transcription factor FOXP3 which is crucial for Treg cell function (PubMed:23973222).',NULL,NULL,NULL,NULL,NULL),(4156,'UniProt Function',NULL,5233,NULL,'(Microbial infection) Contributes to the overall stabilization and trans-activation capability of the herpesvirus 1 trans-acting transcriptional protein ICP0/VMW110 during HSV-1 infection.',NULL,NULL,NULL,NULL,NULL),(4157,'UniProt Function',NULL,5234,NULL,'Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both \'Lys-48\' an \'Lys-63\'-linked ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the formation of a complex containing RNF128 and OTUB1. Probably regulates the stability of STAM2 and RASGRF1. Regulates endosomal ubiquitin dynamics, cargo sorting, membrane traffic at early endosomes, and maintenance of ESCRT-0 stability. The level of protein ubiquitination on endosomes is essential for maintaining the morphology of the organelle. Deubiquitinates EPS15 and controles tyrosine kinase stability. Removes conjugated ubiquitin from EGFR thus regulating EGFR degradation and downstream MAPK signaling. Involved in acrosome biogenesis through interaction with the spermatid ESCRT-0 complex and microtubules. Deubiquitinates BIRC6/bruce and KIF23/MKLP1. Deubiquitinates BACE1 which inhibits BACE1 lysosomal degradation and modulates BACE-medaited APP cleavage and amyloid-beta formation (PubMed:27302062).',NULL,NULL,NULL,NULL,NULL),(4158,'UniProt Function',NULL,5235,NULL,'Oocyte-specific protein that localizes to centromeres at the dictyate stage and regulates the survival of primordial oocytes.',NULL,NULL,NULL,NULL,NULL),(4159,'UniProt Function',NULL,5237,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing (PubMed:10944529, PubMed:17981804).',NULL,NULL,NULL,NULL,NULL),(4160,'UniProt Function',NULL,5238,NULL,'Cytoplasmic histidine--tRNA ligase (Probable). Plays a role in axon guidance.',NULL,NULL,NULL,NULL,NULL),(4161,'UniProt Function',NULL,5240,NULL,'Regulates endocytosis of activin type 2 receptor kinases through the Ral/RALBP1-dependent pathway and may be involved in suppression of activin-induced signal transduction.',NULL,NULL,NULL,NULL,NULL),(4162,'UniProt Function',NULL,5241,NULL,'Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins.',NULL,NULL,NULL,NULL,NULL),(4163,'UniProt Function',NULL,5243,NULL,'As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20676083, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20676083, PubMed:28104892, PubMed:25535373). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome (PubMed:28104892). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303).',NULL,NULL,NULL,NULL,NULL),(4164,'UniProt Function',NULL,5244,NULL,'Scaffold protein that functions as a component of a multimolecular complex involved in histone mRNA 3\'-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively junctional component. May have a house-keeping rule. Is involved in pre-mRNA polyadenylation. Enhances SSU72 phosphatase activity.',NULL,NULL,NULL,NULL,NULL),(4165,'UniProt Function',NULL,5245,NULL,'Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.',NULL,NULL,NULL,NULL,NULL),(4166,'UniProt Function',NULL,5246,NULL,'Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains (PubMed:12084015, PubMed:15314155, PubMed:17897950, PubMed:19874889, PubMed:20233726, PubMed:24724799). Inhibits the degradation of target proteins by the proteasome (PubMed:12084015). Cleaves preferentially \'Lys-6\' and \'Lys-63\'-linked ubiquitin chains. Has lower activity with \'Lys-11\' and \'Lys-33\'-linked ubiquitin chains, and extremely low activity with \'Lys-27\', \'Lys-29\' and \'Lys-48\'-linked ubiquitin chains (in vitro) (PubMed:24724799). Plays a role in the regulation of pathways leading to NF-kappa-B activation (PubMed:17897950, PubMed:19874889). Plays a role in the regulation of DNA repair after double-stranded DNA breaks (PubMed:15314155, PubMed:20233726). Acts as a chromatin regulator via its association with the Polycomb group (PcG) multiprotein PRC1-like complex; may act by deubiquitinating components of the PRC1-like complex (PubMed:20601937).',NULL,NULL,NULL,NULL,NULL),(4167,'UniProt Function',NULL,5247,NULL,'Deubiquitinating enzyme. Has almost no deubiquitinating activity by itself and requires the interaction with WDR20 and WDR48 to have a high activity (PubMed:19075014, PubMed:27373336). Not involved in deubiquitination of monoubiquitinated FANCD2 (PubMed:19075014). In complex with WDR48, acts as a potential tumor suppressor by positively regulating PHLPP1 stability (PubMed:24145035).',NULL,NULL,NULL,NULL,NULL),(4168,'UniProt Function',NULL,5248,NULL,'Hydrolase that removes conjugated ubiquitin from target proteins and regulates various pathways such as the TGF-beta receptor signaling, NF-kappa-B and RNF41/NRDP1-PRKN pathways (PubMed:21947082, PubMed:22344298, PubMed:24852371, PubMed:16005295, PubMed:17318178, PubMed:19826004, PubMed:19576224). Acts as a key regulator of TGF-beta receptor signaling pathway, but the precise mechanism is still unclear: according to a report, acts by promoting deubiquitination of monoubiquitinated R-SMADs (SMAD1, SMAD2 and/or SMAD3), thereby alleviating inhibition of R-SMADs and promoting activation of TGF-beta target genes (PubMed:21947082). According to another reports, regulates the TGF-beta receptor signaling pathway by mediating deubiquitination and stabilization of TGFBR1, leading to an enhanced TGF-beta signal (PubMed:22344298). Able to mediate deubiquitination of monoubiquitinated substrates as well as \'Lys-48\'-linked polyubiquitin chains, protecting them against proteasomal degradation. May also regulate gene expression and/or DNA repair through the deubiquitination of histone H2B (PubMed:24526689). Acts as an inhibitor of mitophagy by counteracting the action of parkin (PRKN): hydrolyzes cleavage of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains attached by parkin on target proteins such as MFN2, thereby reducing parkin\'s ability to drive mitophagy (PubMed:24852371). Acts as an associated component of COP9 signalosome complex (CSN) and regulates different pathways via this association: regulates NF-kappa-B by mediating deubiquitination of NFKBIA and deubiquitinates substrates bound to VCP (PubMed:16005295, PubMed:17318178, PubMed:19826004, PubMed:19576224). Involved in endosome organization by mediating deubiquitination of SQSTM1: ubiquitinated SQSTM1 forms a molecular bridge that restrains cognate vesicles in the perinuclear region and its deubiquitination releases target vesicles for fast transport into the cell periphery (PubMed:27368102).',NULL,NULL,NULL,NULL,NULL),(4169,'UniProt Function',NULL,5248,NULL,'(Microbial infection) Protects APC and human papillomavirus type 16 protein E6 against degradation via the ubiquitin proteasome pathway.',NULL,NULL,NULL,NULL,NULL),(4170,'UniProt Function',NULL,5249,NULL,'Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteropolymeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteropolymeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells.',NULL,NULL,NULL,NULL,NULL),(4171,'UniProt Function',NULL,5251,NULL,'Actin-associated protein that may play a role in modulating actin-based shape and motility of dendritic spines and renal podocyte foot processes. Seems to be essential for the formation of spine apparatuses in spines of telencephalic neurons, which is involved in synaptic plasticity (By similarity).',NULL,NULL,NULL,NULL,NULL),(4172,'UniProt Function',NULL,5252,NULL,'Histone deubiquitinating component of the transcription regulatory histone acetylation (HAT) complex SAGA. Catalyzes the deubiquitination of both histones H2A and H2B, thereby acting as a coactivator. Recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation and cell cycle progression.',NULL,NULL,NULL,NULL,NULL),(4173,'UniProt Function',NULL,5253,NULL,'Actin-associated protein that may play a role in modulating actin-based shape.',NULL,NULL,NULL,NULL,NULL),(4174,'UniProt Function',NULL,5254,NULL,'Deubiquitinating enzyme that hydrolyzes ubiquitin moieties conjugated to substrates and thus, functions to process newly synthesized Ubiquitin, to recycle ubiquitin molecules or to edit polyubiquitin chains and prevents proteasomal degradation of substrates. Hydrolyzes both \'Lys-48\'- and \'Lys-63\'-linked tetraubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(4175,'UniProt Function',NULL,5254,NULL,'The muscle-specific isoform (USP25m) may have a role in the regulation of muscular differentiation and function.',NULL,NULL,NULL,NULL,NULL),(4176,'UniProt Function',NULL,5256,NULL,'Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C). In contrast, it does not deubiquitinate PLK1. Specifically deubiquitinates MYC in the nucleoplasm, leading to prevent MYC degradation by the proteasome: acts by specifically interacting with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm and counteracting ubiquitination of MYC by the SCF(FBW7) complex. In contrast, it does not interact with isoform 4 of FBXW7 (FBW7gamma) in the nucleolus, allowing MYC degradation and explaining the selective MYC degradation in the nucleolus. Deubiquitinates ZNF304, hence preventing ZNF304 degradation by the proteasome and leading to the activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) in a subset of colorectal cancers (CRC) cells (PubMed:24623306).',NULL,NULL,NULL,NULL,NULL),(4177,'UniProt Function',NULL,5259,NULL,'Deubiquitinase essential for the regulation of nucleolar structure and function. Required for cell and organism viability. Plays an important role in ribosomal RNA processing and protein synthesis, which is mediated, at least in part, through deubiquitination of DHX33, NPM1 and FBL, regulating their protein stability (PubMed:29273634, PubMed:19208757, PubMed:22902402). Function as a transcriptional repressor by deubiquiting histone H2B at the promoters of genes critical for cellular differentiation, such as CDKN1A, thereby preventing histone H3 \'Lys-4\' trimethylation (H3K4) (PubMed:29274341). Specifically deubiquitinates MYC in the nucleolus, leading to prevent MYC degradation by the proteasome: acts by specifically interacting with isoform 3 of FBXW7 (FBW7gamma) in the nucleolus and counteracting ubiquitination of MYC by the SCF(FBW7) complex. In contrast, it does not interact with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm (PubMed:25775507). Interacts to and regulates the actions of E3 ubiquitin-protein ligase NEDD4L over substrates such as NTRK1, KCNQ2 and KCNQ3, affecting their expression an functions (PubMed:27445338). Deubiquitinates SOD2, regulates SOD2 protein stability (PubMed:21268071). Deubiquitinase activity is required to control selective autophagy activation by ubiquitinated proteins (PubMed:22622177).',NULL,NULL,NULL,NULL,NULL),(4178,'UniProt Function',NULL,5260,NULL,'Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6-dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation.',NULL,NULL,NULL,NULL,NULL),(4179,'UniProt Function',NULL,5261,NULL,'Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:10983987). Plays a role in the ERAD pathway via its interaction with ER-localized proteins FAF2/UBXD8 and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:24215460, PubMed:18307982). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957). Negatively regulates the endocytosis of GPCR receptors: AVPR2 and ADRB2, by specifically reducing the rate at which receptor-arrestin complexes concentrate in clathrin-coated pits (CCPs) (PubMed:18199683).',NULL,NULL,NULL,NULL,NULL),(4180,'UniProt Function',NULL,5263,NULL,'Adapter protein, which is found in various multiprotein chromatin complexes with histone acetyltransferase activity (HAT), which gives a specific tag for epigenetic transcription activation. Component of the NuA4 histone acetyltransferase complex which is responsible for acetylation of nucleosomal histones H4 and H2A. Plays a central role in MYC transcription activation, and also participates in cell transformation by MYC. Required for p53/TP53-, E2F1- and E2F4-mediated transcription activation. Also involved in transcription activation mediated by the adenovirus E1A, a viral oncoprotein that deregulates transcription of key genes. Probably acts by linking transcription factors such as E1A, MYC or E2F1 to HAT complexes such as STAGA thereby allowing transcription activation. Probably not required in the steps following histone acetylation in processes of transcription activation. May be required for the mitotic checkpoint and normal cell cycle progression. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.',NULL,NULL,NULL,NULL,NULL),(4181,'UniProt Function',NULL,5264,NULL,'Disulfide reductase. May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. Modulates TNF-alpha signaling and NF-kappa-B activation. Has peroxidase activity and may contribute to the elimination of cellular hydrogen peroxide.',NULL,NULL,NULL,NULL,NULL),(4182,'UniProt Function',NULL,5265,NULL,'Possesses significant protein thiol-disulfide oxidase activity.',NULL,NULL,NULL,NULL,NULL),(4183,'UniProt Function',NULL,5266,NULL,'Non-receptor tyrosine kinase that plays a redundant role with ITK in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of TXK to the cell membrane, where it is phosphorylated at Tyr-420. Phosphorylation leads to TXK full activation. Contributes also to signaling from many receptors and participates in multiple downstream pathways, including regulation of the actin cytoskeleton. Like ITK, can phosphorylate PLCG1, leading to its localization in lipid rafts and activation, followed by subsequent cleavage of its substrates. In turn, the endoplasmic reticulum releases calcium in the cytoplasm and the nuclear activator of activated T-cells (NFAT) translocates into the nucleus to perform its transcriptional duty. With PARP1 and EEF1A1, TXK forms a complex that acts as a T-helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFNG to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production. Phosphorylates both PARP1 and EEF1A1. Phosphorylates also key sites in LCP2 leading to the up-regulation of Th1 preferred cytokine IL-2. Phosphorylates \'Tyr-201\' of CTLA4 which leads to the association of PI-3 kinase with the CTLA4 receptor.',NULL,NULL,NULL,NULL,NULL),(4184,'UniProt Function',NULL,5267,NULL,'Plays role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).',NULL,NULL,NULL,NULL,NULL),(4185,'UniProt Function',NULL,5268,NULL,'May be required for post-translational modifications of proteins required for acrosomal biogenesis. May act by reducing disulfide bonds within the sperm.',NULL,NULL,NULL,NULL,NULL),(4186,'UniProt Function',NULL,5269,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4187,'UniProt Function',NULL,5270,NULL,'Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3\'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron.',NULL,NULL,NULL,NULL,NULL),(4188,'UniProt Function',NULL,5271,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Regulates cell proliferation by deubiquitinating and inhibiting RCE1 thereby controlling the small GTPases NRAS and HRAS localization and activation. In parallel, mediates deubiquitination of CDC25A, preventing CDC25A degradation by the proteasome during the G1/S and G2/M phases promoting cell-cycle progression. Also regulates cell proliferation and apoptosis through deubiquitination of SUDS3 a regulator of histone deacetylation. Through activation of the Rho family GTPases RAC1A, CDC42 and RHOA, regulates cell migration. Through the cleavage of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains of the cytoplasmic innate immune receptors DDX58 and IFIH1 stimulates the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4189,'UniProt Function',NULL,5272,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(4190,'UniProt Function',NULL,5273,NULL,'Non-catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Required for poly-ubiquitination and proteasome-mediated degradation of CDKN1B during G1 phase of the cell cycle.',NULL,NULL,NULL,NULL,NULL),(4191,'UniProt Function',NULL,5274,NULL,'Catalyzes the covalent attachment of ubiquitin to other proteins (PubMed:22496338). May be involved in hormonal homeostasis in females. Involved in regulation of B4GALT1 cell surface expression, B4GALT1-mediated cell adhesion to laminin and embryoid body formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(4192,'UniProt Function',NULL,5275,NULL,'Accepts the ubiquitin-like proteins SUMO1, SUMO2, SUMO3, SUMO4 and SUMO1P1/SUMO5 from the UBLE1A-UBLE1B E1 complex and catalyzes their covalent attachment to other proteins with the help of an E3 ligase such as RANBP2, CBX4 and ZNF451. Can catalyze the formation of poly-SUMO chains. Necessary for sumoylation of FOXL2 and KAT5. Essential for nuclear architecture and chromosome segregation. Sumoylates p53/TP53 at \'Lys-386\'.',NULL,NULL,NULL,NULL,NULL),(4193,'UniProt Function',NULL,5276,NULL,'Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosynthetic enzyme: coenzyme Q10, also named ubiquinone, plays a important antioxidant role in the cardiovascular system. Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress.',NULL,NULL,NULL,NULL,NULL),(4194,'UniProt Function',NULL,5277,NULL,'Mitochondrial protein responsible for thermogenic respiration, a specialized capacity of brown adipose tissue and beige fat that participates to non-shivering adaptive thermogenesis to temperature and diet variations and more generally to the regulation of energy balance (By similarity). Functions as a long-chain fatty acid/LCFA and proton symporter, simultaneously transporting one LCFA and one proton through the inner mitochondrial membrane (PubMed:24196960). However, LCFAs remaining associated with the transporter via their hydrophobic tails, it results in an apparent transport of protons activated by LCFAs. Thereby, dissipates the mitochondrial proton gradient and converts the energy of substrate oxydation into heat instead of ATP. Regulates the production of reactive oxygen species/ROS by mitochondria (By similarity).',NULL,NULL,NULL,NULL,NULL),(4195,'UniProt Function',NULL,5278,NULL,'Plays a critical role in maintaining the ATP synthase population in mitochondria.',NULL,NULL,NULL,NULL,NULL),(4196,'UniProt Function',NULL,5279,NULL,'Involved in rRNA-processing and ribosome biogenesis.',NULL,NULL,NULL,NULL,NULL),(4197,'UniProt Function',NULL,5280,NULL,'Involved in nucleolar processing of pre-18S ribosomal RNA.',NULL,NULL,NULL,NULL,NULL),(4198,'UniProt Function',NULL,5281,NULL,'May play a role in anchoring the cytoskeleton to the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(4199,'UniProt Function',NULL,5282,NULL,'Highly potent vasoconstrictor.',NULL,NULL,NULL,NULL,NULL),(4200,'UniProt Function',NULL,5283,NULL,'Versatile protein that is involved in regulation of different cellular pathways implicated in membrane trafficking. Involved in regulation of the COPI-dependent retrograde transport from Golgi and the endoplasmic reticulum by associating with the NRZ complex; the function is dependent on its binding to phosphatidylinositol 3-phosphate (PtdIns(3)P) (PubMed:24056303). During autophagy acts as regulatory subunit of the alternative PI3K complex II (PI3KC3-C2) that mediates formation of phosphatidylinositol 3-phosphate and is believed to be involved in maturation of autophagosomes and endocytosis. Activates lipid kinase activity of PIK3C3. Involved in the regulation of degradative endocytic trafficking and cytokinesis, and in regulation of ATG9A transport from the Golgi to the autophagosome; the functions seems to implicate its association with PI3KC3-C2 (PubMed:16799551, PubMed:20643123, PubMed:24056303). Involved in maturation of autophagosomes and degradative endocytic trafficking independently of BECN1 but depending on its association with a class C Vps complex (possibly the HOPS complex); the association is also proposed to promote autophagosome recruitment and activation of Rab7 and endosome-endosome fusion events (PubMed:18552835). Enhances class C Vps complex (possibly HOPS complex) association with a SNARE complex and promotes fusogenic SNARE complex formation during late endocytic membrane fusion (PubMed:24550300). In case of negative-strand RNA virus infection is required for efficient virus entry, promotes endocytic transport of virions and is implicated in a VAMP8-specific fusogenic SNARE complex assembly (PubMed:24550300).',NULL,NULL,NULL,NULL,NULL),(4201,'UniProt Function',NULL,5283,NULL,'Involved in maintaining chromosomal stability. Promotes DNA double-strand break (DSB) repair by association with DNA-dependent protein kinase complex DNA-PK and activating it in non-homologous end joining (NHEJ) (PubMed:22542840). Required for centrosome stability and proper chromosome segregation (PubMed:22542840).',NULL,NULL,NULL,NULL,NULL),(4202,'UniProt Function',NULL,5284,NULL,'Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes.',NULL,NULL,NULL,NULL,NULL),(4203,'UniProt Function',NULL,5285,NULL,'Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(4204,'UniProt Function',NULL,5286,NULL,'Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(4205,'UniProt Function',NULL,5288,NULL,'Acts as a deubiquitinating enzyme. Necessary for VCP-mediated reassembly of Golgi stacks after mitosis. May play a role in VCP-mediated formation of transitional endoplasmic reticulum (tER). Mediates dissociation of the ternary complex containing STX5A, NSFL1C and VCP (By similarity). Hydrolyzes \'Lys-11\'- and \'Lys-48\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(4206,'UniProt Function',NULL,5289,NULL,'Forms a channel through the mitochondrial outer membrane and also the plasma membrane. The channel at the outer mitochondrial membrane allows diffusion of small hydrophilic molecules; in the plasma membrane it is involved in cell volume regulation and apoptosis. It adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation-selective (PubMed:11845315, PubMed:18755977, PubMed:20230784, PubMed:8420959). May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis (PubMed:15033708, PubMed:25296756).',NULL,NULL,NULL,NULL,NULL),(4207,'UniProt Function',NULL,5290,NULL,'Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:28698609, PubMed:16913708, PubMed:15728261, PubMed:10678179). Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR (PubMed:28698609). The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes (PubMed:28698609). Plays a central role in calcium homeostasis (By similarity).',NULL,NULL,NULL,NULL,NULL),(4208,'UniProt Function',NULL,5291,NULL,'Growth factor for endothelial cells. VEGF-B167 binds heparin and neuropilin-1 whereas the binding to neuropilin-1 of VEGF-B186 is regulated by proteolysis.',NULL,NULL,NULL,NULL,NULL),(4209,'UniProt Function',NULL,5292,NULL,'Appears to play a role in cell sterol metabolism. It may function to protect cells from over-accumulation of cholesterol.',NULL,NULL,NULL,NULL,NULL),(4210,'UniProt Function',NULL,5293,NULL,'Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity).',NULL,NULL,NULL,NULL,NULL),(4211,'UniProt Function',NULL,5294,NULL,'Plays an important role in the organization of the cytoskeleton (By similarity). Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization.',NULL,NULL,NULL,NULL,NULL),(4212,'UniProt Function',NULL,5294,NULL,'Seraspenide inhibits the entry of hematopoietic pluripotent stem cells into the S-phase.',NULL,NULL,NULL,NULL,NULL),(4213,'UniProt Function',NULL,5295,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4214,'UniProt Function',NULL,5296,NULL,'Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3\'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron.',NULL,NULL,NULL,NULL,NULL),(4215,'UniProt Function',NULL,5297,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4216,'UniProt Function',NULL,5298,NULL,'Acts in vitro to stimulate the secretion of adrenocorticotropic hormone (ACTH) (PubMed:8612563). Binds with high affinity to CRF receptor types 1, 2-alpha, and 2-beta (PubMed:8612563). Plays a role in the establishment of normal hearing thresholds (By similarity). Reduces food intake and regulates ghrelin levels in gastric body and plasma (By similarity).',NULL,NULL,NULL,NULL,NULL),(4217,'UniProt Function',NULL,5299,NULL,'Mediates pre-mRNA alternative splicing regulation. Binds to splice sites in pre-mRNA and regulates splice site selection. Binds and stabilizes cytoplasmic mRNA. Contributes to the regulation of translation by modulating the interaction between the mRNA and eukaryotic initiation factors (By similarity). Regulates the transcription of numerous genes. Its transcriptional activity on the multidrug resistance gene MDR1 is enhanced in presence of the APEX1 acetylated form at \'Lys-6\' and \'Lys-7\'. Binds to promoters that contain a Y-box (5\'-CTGATTGGCCAA-3\'), such as MDR1 and HLA class II genes. Promotes separation of DNA strands that contain mismatches or are modified by cisplatin. Has endonucleolytic activity and can introduce nicks or breaks into double-stranded DNA (in vitro). May play a role in DNA repair. Component of the CRD-mediated complex that promotes MYC mRNA stability. Binds preferentially to the 5\'-[CU]CUGCG-3\' motif in vitro.',NULL,NULL,NULL,NULL,NULL),(4218,'UniProt Function',NULL,5299,NULL,'The secreted form acts as an extracellular mitogen and stimulates cell migration and proliferation.',NULL,NULL,NULL,NULL,NULL),(4219,'UniProt Function',NULL,5300,NULL,'Factor involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage. TC-NER allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Acts by promoting stabilization of ERCC6 by recruiting deubiquitinating enzyme USP7 to TC-NER complexes, preventing UV-induced degradation of ERCC6 by the proteasome. Interacts with the elongating form of RNA polymerase II (RNA pol IIo) and facilitates its ubiquitination at UV damage sites, leading to promote RNA pol IIo backtracking to allow access to the nucleotide excision repair machinery. Not involved in processing oxidative damage.',NULL,NULL,NULL,NULL,NULL),(4220,'UniProt Function',NULL,5301,NULL,'The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.',NULL,NULL,NULL,NULL,NULL),(4221,'UniProt Function',NULL,5302,NULL,'Involved in the targeting and/or fusion of transport vesicles to their target membrane.',NULL,NULL,NULL,NULL,NULL),(4222,'UniProt Function',NULL,5303,NULL,'SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network.',NULL,NULL,NULL,NULL,NULL),(4223,'UniProt Function',NULL,5304,NULL,'Involved in the pathway that functions to remove an inhibitor (probably synaptotagmin-4) of calcium-triggered exocytosis during the maturation of secretory granules. May be a marker for this sorting pathway that is critical for remodeling the secretory response of granule.',NULL,NULL,NULL,NULL,NULL),(4224,'UniProt Function',NULL,5305,NULL,'Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late endosomes with lysosomes and homotypic lysosomal fusion. Required for calcium regulated lysosomal exocytosis. Involved in the export of chylomicrons from the endoplasmic reticulum to the cis Golgi. Required for exocytosis of mediators during eosinophil and neutrophil degranulation, and target cell killing by natural killer cells. Required for focal exocytosis of late endocytic vesicles during phagosome formation.',NULL,NULL,NULL,NULL,NULL),(4225,'UniProt Function',NULL,5307,NULL,'Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process. Required for cell surface localization of FZD3 and FZD6 in the inner ear (By similarity).',NULL,NULL,NULL,NULL,NULL),(4226,'UniProt Function',NULL,5308,NULL,'Accessory subunit of the proton-transporting vacuolar (V)-ATPase protein pump, which is required for luminal acidification of secretory vesicles. Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity. Involved in membrane trafficking and Ca(2+)-dependent membrane fusion. May play a role in the assembly of the V-type ATPase complex. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).',NULL,NULL,NULL,NULL,NULL),(4227,'UniProt Function',NULL,5309,NULL,'Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). May play a role in neurite development and synaptic connectivity (PubMed:29668857).',NULL,NULL,NULL,NULL,NULL),(4228,'UniProt Function',NULL,5310,NULL,'Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(4229,'UniProt Function',NULL,5311,NULL,'Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(4230,'UniProt Function',NULL,5312,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4231,'UniProt Function',NULL,5313,NULL,'S-adenosyl-L-methionine-dependent transferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3\'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the transfer of the alpha-amino-alpha-carboxypropyl (acp) group from S-adenosyl-L-methionine to the C-7 position of 4-demethylwyosine (imG-14) to produce wybutosine-86.',NULL,NULL,NULL,NULL,NULL),(4232,'UniProt Function',NULL,5314,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4233,'UniProt Function',NULL,5316,NULL,'Plays a role in pre-mRNA splicing and 3\'-end processing (PubMed:17024186). By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing (PubMed:21536736). Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required for the export of mRNA out of the nucleus, even if the mRNA is encoded by an intron-less gene. Represses the splicing of MAPT/Tau exon 10. Positively regulates pre-mRNA 3\'-end processing by recruiting the CFIm complex to cleavage and polyadenylation signals (PubMed:17024186).',NULL,NULL,NULL,NULL,NULL),(4234,'UniProt Function',NULL,5317,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer \'Lys-11\' and \'Lys-48\'-linked polyubiquitination.',NULL,NULL,NULL,NULL,NULL),(4235,'UniProt Function',NULL,5318,NULL,'Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress.',NULL,NULL,NULL,NULL,NULL),(4236,'UniProt Function',NULL,5320,NULL,'General vesicular transport factor required for intercisternal transport in the Golgi stack; it is required for transcytotic fusion and/or subsequent binding of the vesicles to the target membrane. May well act as a vesicular anchor by interacting with the target membrane and holding the vesicular and target membranes in proximity.',NULL,NULL,NULL,NULL,NULL),(4237,'UniProt Function',NULL,5321,NULL,'Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5\'-CACGTG-3\') that is found in a variety of viral and cellular promoters.',NULL,NULL,NULL,NULL,NULL),(4238,'UniProt Function',NULL,5322,NULL,'Essential for spermatogenesis. May be required specifically for ribosome biogenesis and hence protein synthesis during male meiosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(4239,'UniProt Function',NULL,5323,NULL,'Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in small subunit (SSU) pre-rRNA processing at sites A\', A0, 1 and 2b. Required for optimal pre-ribosomal RNA transcription by RNA polymerase (PubMed:17699751, PubMed:19732766). May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5\'-GGGACTTTCC-3\' found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV (PubMed:19732766).',NULL,NULL,NULL,NULL,NULL),(4240,'UniProt Function',NULL,5324,NULL,'Potent vasoconstrictor.',NULL,NULL,NULL,NULL,NULL),(4241,'UniProt Function',NULL,5325,NULL,'Involved in nucleolar processing of pre-18S ribosomal RNA.',NULL,NULL,NULL,NULL,NULL),(4242,'UniProt Function',NULL,5326,NULL,'Male-specific histone demethylase that catalyzes trimethylated \'Lys-27\' (H3K27me3) demethylation in histone H3. Has relatively low lysine demethylase activity.',NULL,NULL,NULL,NULL,NULL),(4243,'UniProt Function',NULL,5327,NULL,'Single strand-specific metallo-endoribonuclease involved in rRNA maturation.',NULL,NULL,NULL,NULL,NULL),(4244,'UniProt Function',NULL,5328,NULL,'Major constituent of messenger ribonucleoprotein particles (mRNPs). Involved in the regulation of the stability and/or translation of germ cell mRNAs. Binds to Y-box consensus promoter element. Binds to full-length mRNA with high affinity in a sequence-independent manner. Binds to short RNA sequences containing the consensus site 5\'-UCCAUCA-3\' with low affinity and limited sequence specificity. Its binding with maternal mRNAs is necessary for its cytoplasmic retention. May mark specific mRNAs (those transcribed from Y-box promoters) in the nucleus for cytoplasmic storage, thereby linking transcription and mRNA storage/translational delay (By similarity).',NULL,NULL,NULL,NULL,NULL),(4245,'UniProt Function',NULL,5329,NULL,'Binds to the GM-CSF promoter. Seems to act as a repressor. Binds also to full-length mRNA and to short RNA sequences containing the consensus site 5\'-UCCAUCA-3\'. May have a role in translation repression (By similarity).',NULL,NULL,NULL,NULL,NULL),(4246,'UniProt Function',NULL,5333,NULL,'Involved in gene transcription regulation (PubMed:28106301, PubMed:21730289). Acts in concert with the corepressor URI1 to regulate androgen receptor AR-mediated transcription (PubMed:11854421, PubMed:21730289). Together with URI1, associates with chromatin to the NKX3-1 promoter region (PubMed:21730289). Negatively regulates the transcriptional activity of the estrogen receptor ESR1 by inducing its translocation into the cytoplasm (PubMed:28106301). May act as nuclear chaperone that facilitates the formation of the NF-kappa-B enhanceosome and thus positively regulates NF-kappa-B transcription activity (PubMed:17620405, PubMed:21307340). Potential component of mitochondrial-associated LRPPRC, a multidomain organizer that potentially integrates mitochondria and the microtubular cytoskeleton with chromosome remodeling (PubMed:17554592). Increasing concentrations of UXT contributes to progressive aggregation of mitochondria and cell death potentially through its association with LRPPRC (PubMed:17554592). Suppresses cell transformation and it might mediate this function by interaction and inhibition of the biological activity of cell proliferation and survival stimulatory factors like MECOM (PubMed:17635584).',NULL,NULL,NULL,NULL,NULL),(4247,'UniProt Function',NULL,5333,NULL,'Isoform 1: Plays a role in protecting cells against TNF-alpha-induced apoptosis by preventing the recruitment of FADD and caspase 8 to the apoptotic complex I, composed of TRADD, TRAF2 and RIPK1/RIP.',NULL,NULL,NULL,NULL,NULL),(4248,'UniProt Function',NULL,5334,NULL,'Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl-inositol-calcium second messenger system. Has been involved in social behaviors, including affiliation and attachment.',NULL,NULL,NULL,NULL,NULL),(4249,'UniProt Function',NULL,5335,NULL,'Acts as a sulfur carrier required for 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Serves as sulfur donor in tRNA 2-thiolation reaction by being thiocarboxylated (-COSH) at its C-terminus by MOCS3. The sulfur is then transferred to tRNA to form 2-thiolation of mcm(5)S(2)U. Also acts as a ubiquitin-like protein (UBL) that is covalently conjugated via an isopeptide bond to lysine residues of target proteins such as MOCS3, ATPBD3, CTU2, USP15 and CAS. The thiocarboxylated form serves as substrate for conjugation and oxidative stress specifically induces the formation of UBL-protein conjugates.',NULL,NULL,NULL,NULL,NULL),(4250,'UniProt Function',NULL,5336,NULL,'Phosphodiesterase responsible for the U6 snRNA 3\' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3\' end-terminated with a 2\',3\'-cyclic phosphate.',NULL,NULL,NULL,NULL,NULL),(4251,'UniProt Function',NULL,5337,NULL,'Involved in the negative regulation of epithelial-mesenchymal transition, the process by which epithelial cells lose their polarity and adhesion properties to become mesenchymal cells with enhanced migration and invasive properties.',NULL,NULL,NULL,NULL,NULL),(4252,'UniProt Function',NULL,5338,NULL,'May function as a ubiquitin-protein or polyubiquitin hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade. Deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade. Deubiquitination of SMAD4 by USP9X re-empowers its competence to mediate TGF-beta signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(4253,'UniProt Function',NULL,5339,NULL,'Involved in nucleolar processing of pre-18S ribosomal RNA.',NULL,NULL,NULL,NULL,NULL),(4254,'UniProt Function',NULL,5340,NULL,'Specialized low-affinity vasopressin-regulated urea transporter. Mediates rapid transepithelial urea transport across the inner medullary collecting duct and plays a major role in the urinary concentrating mechanism.',NULL,NULL,NULL,NULL,NULL),(4255,'UniProt Function',NULL,5341,NULL,'Binds phosphatidylcholine, phosphatidylinositol, polychlorinated biphenyls (PCB) and weakly progesterone, potent inhibitor of phospholipase A2.',NULL,NULL,NULL,NULL,NULL),(4256,'UniProt Function',NULL,5342,NULL,'Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I.',NULL,NULL,NULL,NULL,NULL),(4257,'UniProt Function',NULL,5343,NULL,'May act as an inhibitor of TGF-beta signaling.',NULL,NULL,NULL,NULL,NULL),(4258,'UniProt Function',NULL,5344,NULL,'Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:29146869). Acts as an activator of angiogenesis: expressed in infiltrating mononuclear cells in the sprouting front to promote angiogenesis (PubMed:19204325).',NULL,NULL,NULL,NULL,NULL),(4259,'UniProt Function',NULL,5345,NULL,'Subunit of the peripheral V1 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium.',NULL,NULL,NULL,NULL,NULL),(4260,'UniProt Function',NULL,5346,NULL,'Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(4261,'UniProt Function',NULL,5347,NULL,'Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules.',NULL,NULL,NULL,NULL,NULL),(4262,'UniProt Function',NULL,5348,NULL,'Possible tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(4263,'UniProt Function',NULL,5352,NULL,'Has no ubiquitin ligase activity on its own. The UBE2V2/UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through \'Lys-63\'. This type of poly-ubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage.',NULL,NULL,NULL,NULL,NULL),(4264,'UniProt Function',NULL,5354,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes \'Lys-11\'- and \'Lys-48\'-, as well as \'Lys-63\'-linked polyubiquitination. Catalyzes the ISGylation of influenza A virus NS1 protein.',NULL,NULL,NULL,NULL,NULL),(4265,'UniProt Function',NULL,5355,NULL,'Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets.',NULL,NULL,NULL,NULL,NULL),(4266,'UniProt Function',NULL,5356,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:22496338). In vitro catalyzes \'Lys-48\'-linked polyubiquitination (PubMed:20061386). Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1 (PubMed:18042044, PubMed:18359941). Ubiquitinates STUB1-associated HSP90AB1 in vitro (PubMed:18042044). Lacks inherent specificity for any particular lysine residue of ubiquitin (PubMed:18042044). Essential for viral activation of IRF3 (PubMed:19854139). Mediates polyubiquitination of CYP3A4 (PubMed:19103148).',NULL,NULL,NULL,NULL,NULL),(4267,'UniProt Function',NULL,5357,NULL,'Activates ubiquitin by first adenylating with ATP its C-terminal glycine residue and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Catalyzes the ISGylation of influenza A virus NS1 protein.',NULL,NULL,NULL,NULL,NULL),(4268,'UniProt Function',NULL,5358,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes \'Lys-48\'-linked polyubiquitination.',NULL,NULL,NULL,NULL,NULL),(4269,'UniProt Function',NULL,5359,NULL,'E2/E3 hybrid ubiquitin-protein ligase that displays both E2 and E3 ligase activities and mediates monoubiquitination of target proteins (PubMed:23455153, PubMed:24703950). Negatively regulates TRAF6-mediated NF-kappa-B activation independently of its E2 activity (PubMed:23381138). Acts as a positive regulator of BMP7 signaling by mediating monoubiquitination of SMAD6, thereby regulating adipogenesis (PubMed:23455153). Mediates monoubiquitination at different sites of the nuclear localization signal (NLS) of BAP1, leading to cytoplasmic retention of BAP1. Also able to monoubiquitinate the NLS of other chromatin-associated proteins, such as INO80 and CXXC1, affecting their subcellular location (PubMed:24703950). Acts as a regulator of retrograde transport by assisting the TRIM27:MAGEL2 E3 ubiquitin ligase complex to mediate \'Lys-63\'-linked ubiquitination of WASHC1, leading to promote endosomal F-actin assembly (PubMed:23452853).',NULL,NULL,NULL,NULL,NULL),(4270,'UniProt Function',NULL,5360,NULL,'Urea channel that facilitates transmembrane urea transport down a concentration gradient. A constriction of the transmembrane channel functions as selectivity filter through which urea is expected to pass in dehydrated form. The rate of urea conduction is increased by hypotonic stress. Plays an important role in the kidney medulla collecting ducts, where it allows rapid equilibration between the lumen of the collecting ducts and the interstitium, and thereby prevents water loss driven by the high concentration of urea in the urine. Facilitates urea transport across erythrocyte membranes. May also play a role in transmembrane water transport, possibly by indirect means.',NULL,NULL,NULL,NULL,NULL),(4271,'UniProt Function',NULL,5361,NULL,'Involved in 18S pre-rRNA processing. Associates with U3 snoRNA.',NULL,NULL,NULL,NULL,NULL),(4272,'UniProt Function',NULL,5362,NULL,'Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic development. Promotes proliferation, survival and migration of endothelial cells, and regulates angiogenic sprouting. Signaling by activated FLT4 leads to enhanced production of VEGFC, and to a lesser degree VEGFA, thereby creating a positive feedback loop that enhances FLT4 signaling. Modulates KDR signaling by forming heterodimers. The secreted isoform 3 may function as a decoy receptor for VEGFC and/or VEGFD and play an important role as a negative regulator of VEGFC-mediated lymphangiogenesis and angiogenesis. Binding of vascular growth factors to isoform 1 or isoform 2 leads to the activation of several signaling cascades; isoform 2 seems to be less efficient in signal transduction, because it has a truncated C-terminus and therefore lacks several phosphorylation sites. Mediates activation of the MAPK1/ERK2, MAPK3/ERK1 signaling pathway, of MAPK8 and the JUN signaling pathway, and of the AKT1 signaling pathway. Phosphorylates SHC1. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Promotes phosphorylation of MAPK8 at \'Thr-183\' and \'Tyr-185\', and of AKT1 at \'Ser-473\'.',NULL,NULL,NULL,NULL,NULL),(4273,'UniProt Function',NULL,5363,NULL,'May be involved in the regulation of cell-cell interactions or in synatogenesis during the maturation of the nervous system.',NULL,NULL,NULL,NULL,NULL),(4274,'UniProt Function',NULL,5363,NULL,'NERP peptides are involved in the control of body fluid homeostasis by regulating vasopressin release.',NULL,NULL,NULL,NULL,NULL),(4275,'UniProt Function',NULL,5363,NULL,'Antimicrobial peptide VGF[554-577]: Has bactericidal activity against M. luteus, and antifungal activity against P. Pastoris.',NULL,NULL,NULL,NULL,NULL),(4276,'UniProt Function',NULL,5364,NULL,'May act as a specific coactivator for the mammalian TEFs.',NULL,NULL,NULL,NULL,NULL),(4277,'UniProt Function',NULL,5365,NULL,'May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal muscles.',NULL,NULL,NULL,NULL,NULL),(4278,'UniProt Function',NULL,5366,NULL,'May act as a specific coactivator for the mammalian TEFs.',NULL,NULL,NULL,NULL,NULL),(4279,'UniProt Function',NULL,5367,NULL,'Non-receptor protein tyrosine kinase that is involved in the regulation of cell growth and survival, apoptosis, cell-cell adhesion, cytoskeleton remodeling, and differentiation. Stimulation by receptor tyrosine kinases (RTKs) including EGRF, PDGFR, CSF1R and FGFR leads to recruitment of YES1 to the phosphorylated receptor, and activation and phosphorylation of downstream substrates. Upon EGFR activation, promotes the phosphorylation of PARD3 to favor epithelial tight junction assembly. Participates in the phosphorylation of specific junctional components such as CTNND1 by stimulating the FYN and FER tyrosine kinases at cell-cell contacts. Upon T-cell stimulation by CXCL12, phosphorylates collapsin response mediator protein 2/DPYSL2 and induces T-cell migration. Participates in CD95L/FASLG signaling pathway and mediates AKT-mediated cell migration. Plays a role in cell cycle progression by phosphorylating the cyclin-dependent kinase 4/CDK4 thus regulating the G1 phase. Also involved in G2/M progression and cytokinesis.',NULL,NULL,NULL,NULL,NULL),(4280,'UniProt Function',NULL,5368,NULL,'Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate.',NULL,NULL,NULL,NULL,NULL),(4281,'UniProt Function',NULL,5369,NULL,'Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate.',NULL,NULL,NULL,NULL,NULL),(4282,'UniProt Function',NULL,5370,NULL,'Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage.',NULL,NULL,NULL,NULL,NULL),(4283,'UniProt Function',NULL,5375,NULL,'Functions as a dominant-negative VHL to serve as a protector of HIFalpha.',NULL,NULL,NULL,NULL,NULL),(4284,'UniProt Function',NULL,5376,NULL,'Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2.',NULL,NULL,NULL,NULL,NULL),(4285,'UniProt Function',NULL,5377,NULL,'Involved in the uptake of GABA and glycine into the synaptic vesicles.',NULL,NULL,NULL,NULL,NULL),(4286,'UniProt Function',NULL,5378,NULL,'Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.',NULL,NULL,NULL,NULL,NULL),(4287,'UniProt Function',NULL,5379,NULL,'Putative pheromone receptor.',NULL,NULL,NULL,NULL,NULL),(4288,'UniProt Function',NULL,5380,NULL,'Increases the transcriptional activity of NFKB1 by facilitating its nuclear translocation, DNA-binding and associated apoptotic response, when overexpressed.',NULL,NULL,NULL,NULL,NULL),(4289,'UniProt Function',NULL,5382,NULL,'Probably plays a regulatory role in sperm development. May participate in regulation of fibrous sheath (FS) assembly by supporting the formation of disulfide bonds during sperm tail morphogenesis. May also be required to rectify incorrect disulfide pairing and generate suitable pairs between the FS constituents. Can reduce disulfide bonds in vitro in the presence of NADP and thioredoxin reductase.',NULL,NULL,NULL,NULL,NULL),(4290,'UniProt Function',NULL,5383,NULL,'Promotes motor nerve regeneration (By similarity). May be involved in intracellular vesicle traffic.',NULL,NULL,NULL,NULL,NULL),(4291,'UniProt Function',NULL,5384,NULL,'May be a regulator of microtubule physiology.',NULL,NULL,NULL,NULL,NULL),(4292,'UniProt Function',NULL,5385,NULL,'Non-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBP complexes results in cellular activation. Involved for instance in neutrophil activation mediated by integrin.',NULL,NULL,NULL,NULL,NULL),(4293,'UniProt Function',NULL,5386,NULL,'Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3\'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(4294,'UniProt Function',NULL,5387,NULL,'tRNA hydroxylase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3\'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the hydroxylation of 7-(a-amino-a-carboxypropyl)wyosine (yW-72) into undermodified hydroxywybutosine (OHyW*). OHyW* being further transformed into hydroxywybutosine (OHyW) by LCMT2/TYW4. OHyW is a derivative of wybutosine found in higher eukaryotes.',NULL,NULL,NULL,NULL,NULL),(4295,'UniProt Function',NULL,5388,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4296,'UniProt Function',NULL,5389,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes the covalent attachment of ISG15 to other proteins. Mediates the selective degradation of short-lived and abnormal proteins. In vitro also catalyzes \'Lys-48\'-linked polyubiquitination.',NULL,NULL,NULL,NULL,NULL),(4297,'UniProt Function',NULL,5390,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates (PubMed:10373495, PubMed:16772533, PubMed:19204938, PubMed:19233847, PubMed:19325566, PubMed:19591933, PubMed:22645313, PubMed:24273172, PubMed:24728990). Several substrates have been identified including the ARNTL/BMAL1, ARC, RAD23A and RAD23B, MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator CDKN1B (PubMed:10373495, PubMed:19204938, PubMed:19325566, PubMed:19591933, PubMed:22645313, PubMed:24728990). Additionally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the cytoplasmic misfolded proteins (PubMed:19233847). Finally, UBE3A also promotes its own degradation in vivo. Plays an important role in the regulation of the circadian clock: involved in the ubiquitination of the core clock component ARNTL/BMAL1, leading to its proteasomal degradation (PubMed:24728990). Acts as transcriptional coactivator of progesterone receptor PGR upon progesterone hormone activation (PubMed:16772533). Acts as a regulator of synaptic development by mediating ubiquitination and degradation of ARC (By similarity). Synergizes with WBP2 in enhancing PGR activity (PubMed:16772533).',NULL,NULL,NULL,NULL,NULL),(4298,'UniProt Function',NULL,5390,NULL,'(Microbial infection) Catalyzes the high-risk human papilloma virus E6-mediated ubiquitination of p53/TP53, contributing to the neoplastic progression of cells infected by these viruses.',NULL,NULL,NULL,NULL,NULL),(4299,'UniProt Function',NULL,5391,NULL,'Catalyzes the covalent attachment of ubiquitin or ISG15 to other proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Promotes ubiquitination and subsequent proteasomal degradation of FLT3.',NULL,NULL,NULL,NULL,NULL),(4300,'UniProt Function',NULL,5392,NULL,'Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability.',NULL,NULL,NULL,NULL,NULL),(4301,'UniProt Function',NULL,5393,NULL,'Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle\'s loop (TALH), where it promotes formation of complex filamentous gel-like structure that may play a role in the water barrier permeability (Probable). May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF (PubMed:3498215). Facilitates neutrophil migration across renal epithelia (PubMed:20798515).',NULL,NULL,NULL,NULL,NULL),(4302,'UniProt Function',NULL,5393,NULL,'Uromodulin, secreted form: In the urine, may contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary tract infection and inhibits formation of liquid containing supersaturated salts and subsequent formation of salt crystals.',NULL,NULL,NULL,NULL,NULL),(4303,'UniProt Function',NULL,5394,NULL,'Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460). Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity).',NULL,NULL,NULL,NULL,NULL),(4304,'UniProt Function',NULL,5394,NULL,'Isoform 2 may act as a repressor of NF-kappa-B and apoptosis.',NULL,NULL,NULL,NULL,NULL),(4305,'UniProt Function',NULL,5396,NULL,'Catalyzes the covalent attachment of ubiquitin to other proteins. Functions in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD).',NULL,NULL,NULL,NULL,NULL),(4306,'UniProt Function',NULL,5397,NULL,'Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX2, but not RBX1, suggests that the RBX2-UBE2F complex neddylates specific target proteins, such as CUL5.',NULL,NULL,NULL,NULL,NULL),(4307,'UniProt Function',NULL,5398,NULL,'Ubiquitin-conjugating enzyme E2 that specifically acts with HECT-type and RBR family E3 ubiquitin-protein ligases. Does not function with most RING-containing E3 ubiquitin-protein ligases because it lacks intrinsic E3-independent reactivity with lysine: in contrast, it has activity with the RBR family E3 enzymes, such as PRKN and ARIH1, that function like function like RING-HECT hybrids. Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes \'Lys-11\'-linked polyubiquitination. Involved in the selective degradation of short-lived and abnormal proteins. Down-regulated during the S-phase it is involved in progression through the cell cycle. Regulates nuclear hormone receptors transcriptional activity. May play a role in myelopoiesis.',NULL,NULL,NULL,NULL,NULL),(4308,'UniProt Function',NULL,5399,NULL,'Catalyzes the covalent attachment of ubiquitin to other proteins.',NULL,NULL,NULL,NULL,NULL),(4309,'UniProt Function',NULL,5400,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at \'Lys-120\' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes \'Lys-11\', as well as \'Lys-48\'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA.',NULL,NULL,NULL,NULL,NULL),(4310,'UniProt Function',NULL,5401,NULL,'Catalyzes the covalent attachment of ubiquitin to other proteins.',NULL,NULL,NULL,NULL,NULL),(4311,'UniProt Function',NULL,5404,NULL,'The complex LTO1:YAE1 functions as a target specific adapter that probably recruits apo-ABCE1 to the cytosolic iron-sulfur protein assembly (CIA) complex machinery (PubMed:26182403). May be required for biogenesis of the large ribosomal subunit and initiation of translation (PubMed:26182403).',NULL,NULL,NULL,NULL,NULL),(4312,'UniProt Function',NULL,5408,NULL,'May act as a negative regulator of cell growth.',NULL,NULL,NULL,NULL,NULL),(4313,'UniProt Function',NULL,5409,NULL,'May be involved in cell cycle progression through the regulation of cyclin D1 expression. May participate in the development of hepatocellular carcinoma (HCC) by promoting hepatocellular growth and survival. May play an important role in development of gastric cancer.',NULL,NULL,NULL,NULL,NULL),(4314,'UniProt Function',NULL,5411,NULL,'SNARE that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER.',NULL,NULL,NULL,NULL,NULL),(4315,'UniProt Function',NULL,5412,NULL,'Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5\'-CACGTG-3\') that is found in a variety of viral and cellular promoters.',NULL,NULL,NULL,NULL,NULL),(4316,'UniProt Function',NULL,5413,NULL,'Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA) (PubMed:8306979). Involved in regulating eumelanin and phaeomelanin levels.',NULL,NULL,NULL,NULL,NULL),(4317,'UniProt Function',NULL,5414,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4318,'UniProt Function',NULL,5415,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4319,'UniProt Function',NULL,5419,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes \'Lys-11\'-, as well as \'Lys-48\'-linked polyubiquitination. Cooperates with the E2 CDC34 and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Acts as an initiator E2, priming the phosphorylated NFKBIA target at positions \'Lys-21\' and/or \'Lys-22\' with a monoubiquitin. Ubiquitin chain elongation is then performed by CDC34, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. Acts also as an initiator E2, in conjunction with RNF8, for the priming of PCNA. Monoubiquitination of PCNA, and its subsequent polyubiquitination, are essential events in the operation of the DNA damage tolerance (DDT) pathway that is activated after DNA damage caused by UV or chemical agents during S-phase. Associates with the BRCA1/BARD1 E3 ligase complex to perform ubiquitination at DNA damage sites following ionizing radiation leading to DNA repair. Targets DAPK3 for ubiquitination which influences promyelocytic leukemia protein nuclear body (PML-NB) formation in the nucleus. In conjunction with the MDM2 and TOPORS E3 ligases, functions ubiquitination of p53/TP53. Supports NRDP1-mediated ubiquitination and degradation of ERBB3 and of BRUCE which triggers apoptosis. In conjunction with the CBL E3 ligase, targets EGFR for polyubiquitination at the plasma membrane as well as during its internalization and transport on endosomes. In conjunction with the STUB1 E3 quality control E3 ligase, ubiquitinates unfolded proteins to catalyze their immediate destruction.',NULL,NULL,NULL,NULL,NULL),(4320,'UniProt Function',NULL,5420,NULL,'Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin-binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology.',NULL,NULL,NULL,NULL,NULL),(4321,'UniProt Function',NULL,5421,NULL,'Transcriptional regulator which can act both as a coactivator and a corepressor and is the critical downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:17974916, PubMed:18280240, PubMed:18579750, PubMed:21364637). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ (PubMed:18158288). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts via ARHGAP18, a Rho GTPase activating protein that suppresses F-actin polymerization (PubMed:25778702). Plays a key role to control cell proliferation in response to cell contact. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration (PubMed:18158288). The presence of TEAD transcription factors are required for it to stimulate gene expression, cell growth, anchorage-independent growth, and epithelial mesenchymal transition (EMT) induction (PubMed:18579750).',NULL,NULL,NULL,NULL,NULL),(4322,'UniProt Function',NULL,5421,NULL,'Isoform 2: Isoform 2 and isoform 3 can activate the C-terminal fragment (CTF) of ERBB4 (isoform 3).',NULL,NULL,NULL,NULL,NULL),(4323,'UniProt Function',NULL,5424,NULL,'Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018).',NULL,NULL,NULL,NULL,NULL),(4324,'UniProt Function',NULL,5425,NULL,'Acts as a transcriptional coactivator of ATF2.',NULL,NULL,NULL,NULL,NULL),(4325,'UniProt Function',NULL,5426,NULL,'May be involved in intracellular vesicle traffic. Inhibits ATF4-mediated transcription, possibly by dimerizing with ATF4 to form inactive dimers that cannot bind DNA. May be involved in regulating bone mass density through an ATF4-dependent pathway. May be involved in cell cycle progression.',NULL,NULL,NULL,NULL,NULL),(4326,'UniProt Function',NULL,5427,NULL,'May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro.',NULL,NULL,NULL,NULL,NULL),(4327,'UniProt Function',NULL,5427,NULL,'Catalyzes the reversible phosphorolysis of thymidine. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis.',NULL,NULL,NULL,NULL,NULL),(4328,'UniProt Function',NULL,5428,NULL,'Plays an important role in the physiology of adrenergic neurons.',NULL,NULL,NULL,NULL,NULL),(4329,'UniProt Function',NULL,5429,NULL,'Significantly diminishes the chaperonin TCP1 complex ATPase activity, thus negatively impacts protein folding, including that of actin or tubulin.',NULL,NULL,NULL,NULL,NULL),(4330,'UniProt Function',NULL,5430,NULL,'Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including TULP1 or GAS6. Regulates many physiological processes including cell survival, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of TYRO3 on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with PIK3R1 and thereby enhances PI3-kinase activity. Activates the AKT survival pathway, including nuclear translocation of NF-kappa-B and up-regulation of transcription of NF-kappa-B-regulated genes. TYRO3 signaling plays a role in various processes such as neuron protection from excitotoxic injury, platelet aggregation and cytoskeleton reorganization. Plays also an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response by activating STAT1, which selectively induces production of suppressors of cytokine signaling SOCS1 and SOCS3.',NULL,NULL,NULL,NULL,NULL),(4331,'UniProt Function',NULL,5430,NULL,'(Microbial infection) Acts as a receptor for lassa virus and lymphocytic choriomeningitis virus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope.',NULL,NULL,NULL,NULL,NULL),(4332,'UniProt Function',NULL,5430,NULL,'(Microbial infection) Acts as a receptor for Ebolavirus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope.',NULL,NULL,NULL,NULL,NULL),(4333,'UniProt Function',NULL,5431,NULL,'Probably involved in intracellular signal transduction by being involved in the initiation of type I IFN signaling. Phosphorylates the interferon-alpha/beta receptor alpha chain.',NULL,NULL,NULL,NULL,NULL),(4334,'UniProt Function',NULL,5433,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4335,'UniProt Function',NULL,5434,NULL,'RNA helicase that plays an essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes. Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome.',NULL,NULL,NULL,NULL,NULL),(4336,'UniProt Function',NULL,5436,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes \'Lys-48\'-linked polyubiquitination. Involved in endoplasmic reticulum-associated degradation (ERAD).',NULL,NULL,NULL,NULL,NULL),(4337,'UniProt Function',NULL,5437,NULL,'E3 ubiquitin-protein ligase that accepts ubiquitin from the E2 ubiquitin-conjugating enzyme UBE2D1 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Can assemble unanchored poly-ubiquitin chains in either \'Lys-29\'- or \'Lys-48\'-linked polyubiquitin chains. Has preference for \'Lys-48\' linkages. It can target itself for ubiquitination in vitro and may promote its own degradation in vivo.',NULL,NULL,NULL,NULL,NULL),(4338,'UniProt Function',NULL,5438,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes \'Lys-11\'- and \'Lys-48\'-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis. Acts by initiating \'Lys-11\'-linked polyubiquitin chains on APC/C substrates, leading to the degradation of APC/C substrates by the proteasome and promoting mitotic exit.',NULL,NULL,NULL,NULL,NULL),(4339,'UniProt Function',NULL,5439,NULL,'May play a role in regulating T-cell development.',NULL,NULL,NULL,NULL,NULL),(4340,'UniProt Function',NULL,5440,NULL,'Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic (PubMed:16025134, PubMed:16828797). Specifically involved in the early development of neural circuitry, likely by controlling the frequency and amplitude of intracellular calcium transients implicated in the regulation of neuron differentiation and survival (Probable).',NULL,NULL,NULL,NULL,NULL),(4341,'UniProt Function',NULL,5441,NULL,'Pseudouridine synthase that catalyzes pseudouridylation of mRNAs (PubMed:28073919). Mediates pseudouridylation of mRNAs with the consensus sequence 5\'-GUUCNANNC-3\', harboring a stem-loop structure (PubMed:28073919). Constitutes the major pseudouridine synthase acting on mRNAs (PubMed:28073919).',NULL,NULL,NULL,NULL,NULL),(4342,'UniProt Function',NULL,5442,NULL,'Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen).',NULL,NULL,NULL,NULL,NULL),(4343,'UniProt Function',NULL,5444,NULL,'Contributes to the de novo mitochondrial thymidylate biosynthesis pathway.',NULL,NULL,NULL,NULL,NULL),(4344,'UniProt Function',NULL,5445,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4345,'UniProt Function',NULL,5446,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4346,'UniProt Function',NULL,5447,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(4347,'UniProt Function',NULL,5448,NULL,'Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated NPHP3 and plays a key role in localization of NPHP3 to the primary cilium membrane. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells.',NULL,NULL,NULL,NULL,NULL),(4348,'UniProt Function',NULL,5449,NULL,'Converts UTP and GlcNAc-1-P into UDP-GlcNAc, and UTP and GalNAc-1-P into UDP-GalNAc. Isoform AGX1 has 2 to 3 times higher activity towards GalNAc-1-P, while isoform AGX2 has 8 times more activity towards GlcNAc-1-P.',NULL,NULL,NULL,NULL,NULL),(4349,'UniProt Function',NULL,5450,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes \'Lys-48\'-, as well as \'Lys-63\'-linked polyubiquitination. May be involved in degradation of muscle-specific proteins. Mediates polyubiquitination of CYP3A4.',NULL,NULL,NULL,NULL,NULL),(4350,'UniProt Function',NULL,5451,NULL,'Catalyzes the covalent attachment of ubiquitin to other proteins. Seems to function in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD).',NULL,NULL,NULL,NULL,NULL),(4351,'UniProt Function',NULL,5452,NULL,'Dephosphorylates 26S nuclear proteasomes, thereby decreasing their proteolytic activity. The dephosphorylation may prevent assembly of the core and regulatory particles (CP and RP) into mature 26S proteasome.',NULL,NULL,NULL,NULL,NULL),(4352,'UniProt Function',NULL,5453,NULL,'Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Specific for ubiquitin, does not activate ubiquitin-like peptides. Differs from UBE1 in its specificity for substrate E2 charging. Does not charge cell cycle E2s, such as CDC34. Essential for embryonic development. Required for UBD/FAT10 conjugation. Isoform 2 may play a key role in ubiquitin system and may influence spermatogenesis and male fertility.',NULL,NULL,NULL,NULL,NULL),(4353,'UniProt Function',NULL,5454,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome.',NULL,NULL,NULL,NULL,NULL),(4354,'UniProt Function',NULL,5456,NULL,'Binds double-stranded DNA. Binds preferentially to supercoiled DNA and cruciform DNA structures. Seems to be involved in transcriptional regulation. May function as a transcriptional repressor. Could have a role in the regulation of hematopoietic differentiation through activation of unknown target genes. Controls cellular proliferation by modulating the functions of cell cycle regulatory factors including p53/TP53 and the retinoblastoma protein. May be involved in TP53-mediated transcriptional activation by enhancing TP53 sequence-specific DNA binding and modulating TP53 phosphorylation status. Seems to be involved in energy-level-dependent activation of the ATM/ AMPK/TP53 pathway coupled to regulation of autophagy. May be involved in regulation of TP53-mediated cell death also involving BRCA1. May be involved in the senescence of prostate epithelial cells. Involved in innate immune response by recognizing viral dsDNA in the cytosol and probably in the nucleus. After binding to viral DNA in the cytoplasm recruits TMEM173/STING and mediates the induction of IFN-beta. Has anti-inflammatory activity and inhibits the activation of the AIM2 inflammasome, probably via association with AIM2. Proposed to bind viral DNA in the nucleus, such as of Kaposi\'s sarcoma-associated herpesvirus, and to induce the formation of nuclear caspase-1-activating inflammasome formation via association with PYCARD. Inhibits replication of herpesviruses such as human cytomegalovirus (HCMV) probably by interfering with promoter recruitment of members of the Sp1 family of transcription factors. Necessary to activate the IRF3 signaling cascade during human herpes simplex virus 1 (HHV-1) infection and promotes the assembly of heterochromatin on herpesviral DNA and inhibition of viral immediate-early gene expression and replication. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.',NULL,NULL,NULL,NULL,NULL),(4355,'UniProt Function',NULL,5457,NULL,'RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript \'caging\' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation. Plays a direct role in the transport and translation of transcripts required for axonal regeneration in adult sensory neurons (By similarity). Regulates localized beta-actin/ACTB mRNA translation, a crucial process for cell polarity, cell migration and neurite outgrowth. Co-transcriptionally associates with the ACTB mRNA in the nucleus. This binding involves a conserved 54-nucleotide element in the ACTB mRNA 3\'-UTR, known as the \'zipcode\'. The RNP thus formed is exported to the cytoplasm, binds to a motor protein and is transported along the cytoskeleton to the cell periphery. During transport, prevents ACTB mRNA from being translated into protein. When the RNP complex reaches its destination near the plasma membrane, IGF2BP1 is phosphorylated. This releases the mRNA, allowing ribosomal 40S and 60S subunits to assemble and initiate ACTB protein synthesis. Monomeric ACTB then assembles into the subcortical actin cytoskeleton (By similarity). During neuronal development, key regulator of neurite outgrowth, growth cone guidance and neuronal cell migration, presumably through the spatiotemporal fine tuning of protein synthesis, such as that of ACTB (By similarity). May regulate mRNA transport to activated synapses (By similarity). Binds to and stabilizes ABCB1/MDR-1 mRNA (By similarity). During interstinal wound repair, interacts with and stabilizes PTGS2 transcript. PTGS2 mRNA stabilization may be crucial for colonic mucosal wound healing (By similarity). Binds to the 3\'-UTR of IGF2 mRNA by a mechanism of cooperative and sequential dimerization and regulates IGF2 mRNA subcellular localization and translation. Binds to MYC mRNA, in the coding region instability determinant (CRD) of the open reading frame (ORF), hence prevents MYC cleavage by endonucleases and possibly microRNA targeting to MYC-CRD. Binds to the 3\'-UTR of CD44 mRNA and stabilizes it, hence promotes cell adhesion and invadopodia formation in cancer cells. Binds to the oncofetal H19 transcript and to the neuron-specific TAU mRNA and regulates their localizations. Binds to and stabilizes BTRC/FBW1A mRNA. Binds to the adenine-rich autoregulatory sequence (ARS) located in PABPC1 mRNA and represses its translation. PABPC1 mRNA-binding is stimulated by PABPC1 protein. Prevents BTRC/FBW1A mRNA degradation by disrupting microRNA-dependent interaction with AGO2. Promotes the directed movement of tumor-derived cells by fine-tuning intracellular signaling networks. Binds to MAPK4 3\'-UTR and inhibits its translation. Interacts with PTEN transcript open reading frame (ORF) and prevents mRNA decay. This combined action on MAPK4 (down-regulation) and PTEN (up-regulation) antagonizes HSPB1 phosphorylation, consequently it prevents G-actin sequestration by phosphorylated HSPB1, allowing F-actin polymerization. Hence enhances the velocity of cell migration and stimulates directed cell migration by PTEN-modulated polarization. Interacts with Hepatitis C virus (HCV) 5\'-UTR and 3\'-UTR and specifically enhances translation at the HCV IRES, but not 5\'-cap-dependent translation, possibly by recruiting eIF3. Interacts with HIV-1 GAG protein and blocks the formation of infectious HIV-1 particles. Reduces HIV-1 assembly by inhibiting viral RNA packaging, as well as assembly and processing of GAG protein on cellular membranes. During cellular stress, such as oxidative stress or heat shock, stabilizes target mRNAs that are recruited to stress granules, including CD44, IGF2, MAPK4, MYC, PTEN, RAPGEF2 and RPS6KA5 transcripts.',NULL,NULL,NULL,NULL,NULL),(4356,'UniProt Function',NULL,5458,NULL,'One of the essential components for the initiation of protein synthesis. Protects formylmethionyl-tRNA from spontaneous hydrolysis and promotes its binding to the 30S ribosomal subunits. Also involved in the hydrolysis of GTP during the formation of the 70S ribosomal complex.',NULL,NULL,NULL,NULL,NULL),(4357,'UniProt Function',NULL,5459,NULL,'mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. With syntenin SDCBP, functions as a regulator of p53/TP53 and p53/TP53-dependent apoptosis. Regulates also TNF-alpha-mediated apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation. Also described as a cellular cofactor of human T-cell leukemia virus type I (HTLV-1) Rex protein and of human immunodeficiency virus type 1 (HIV-1) Rev protein, essential for mRNA export of retroviral transcripts.',NULL,NULL,NULL,NULL,NULL),(4358,'UniProt Function',NULL,5461,NULL,'Could play a significant role in the signal transduction of hematopoietic cells. May regulate tyrosine kinase activity of SRC-family members in brain by specifically phosphorylating their C-terminal regulatory tyrosine residue which acts as a negative regulatory site. It may play an inhibitory role in the control of T-cell proliferation.',NULL,NULL,NULL,NULL,NULL),(4359,'UniProt Function',NULL,5462,NULL,'Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.',NULL,NULL,NULL,NULL,NULL),(4360,'UniProt Function',NULL,5463,NULL,'Appears to play a role in the switch from cap-dependent to IRES-mediated translation during mitosis, apoptosis and viral infection. Cleaved by some caspases and viral proteases.',NULL,NULL,NULL,NULL,NULL),(4361,'UniProt Function',NULL,5464,NULL,'Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.',NULL,NULL,NULL,NULL,NULL),(4362,'UniProt Function',NULL,5466,NULL,'Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.',NULL,NULL,NULL,NULL,NULL),(4363,'UniProt Function',NULL,5467,NULL,'Interferon-induced antiviral RNA-binding protein that specifically binds single-stranded RNA bearing a 5\'-triphosphate group (PPP-RNA), thereby acting as a sensor of viral single-stranded RNAs and inhibiting expression of viral messenger RNAs. Single-stranded PPP-RNAs, which lack 2\'-O-methylation of the 5\' cap and bear a 5\'-triphosphate group instead, are specific from viruses, providing a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Directly binds PPP-RNA in a non-sequence-specific manner. Viruses evolved several ways to evade this restriction system such as encoding their own 2\'-O-methylase for their mRNAs or by stealing host cap containing the 2\'-O-methylation (cap snatching mechanism). Exhibits antiviral activity against several viruses including human papilloma and hepatitis C viruses.',NULL,NULL,NULL,NULL,NULL),(4364,'UniProt Function',NULL,5468,NULL,'Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds beta-tubulin via its basic region. Required for ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(4365,'UniProt Function',NULL,5469,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(4366,'UniProt Function',NULL,5470,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). IgM antibodies play an important role in primary defense mechanisms. They have been shown to be involved in early recognition of external invaders like bacteria and viruses, cellular waste and modified self, as well as in recognition and elimination of precancerous and cancerous lesions. The membrane-bound form is found in the majority of normal B-cells alongside with IgD. Membrane-bound IgM induces the phosphorylation of CD79A and CD79B by the Src family of protein tyrosine kinases. It may cause death of cells by apoptosis. It is also found in soluble form, which represents about 30% of the total serum immunoglobulins where it is found almost exclusively as a homopentamer. After the antigen binds to the B-cell receptor, the secreted form is secreted in large amounts (PubMed:3137579, PubMed:16895553).',NULL,NULL,NULL,NULL,NULL),(4367,'UniProt Function',NULL,5471,NULL,'Major mediator of the tumor suppressor activity of IFN in breast cancer cells. Promotes ubiquitination and subsequent degradation of MDM2, which leads to p53/TP53 stabilization. Promotes ubiquitination and subsequent degradation of HDAC1, which in turn enhances maspin expression, and impairs invasive activity of cancer cells.',NULL,NULL,NULL,NULL,NULL),(4368,'UniProt Function',NULL,5472,NULL,'Serves to link two monomer units of either IgM or IgA. In the case of IgM, the J chain-joined dimer is a nucleating unit for the IgM pentamer, and in the case of IgA it induces larger polymers. It also help to bind these immunoglobulins to secretory component.',NULL,NULL,NULL,NULL,NULL),(4369,'UniProt Function',NULL,5473,NULL,'Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4370,'UniProt Function',NULL,5474,NULL,'Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon-regulatory factor (IRF) signaling pathways. Contributes to the negative regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli.',NULL,NULL,NULL,NULL,NULL),(4371,'UniProt Function',NULL,5475,NULL,'Cytokine (PubMed:8096327, PubMed:8097324). Inhibits inflammatory cytokine production (PubMed:8096327). Synergizes with IL2 in regulating interferon-gamma synthesis (PubMed:8096327). May be critical in regulating inflammatory and immune responses (PubMed:8096327, PubMed:8097324). Positively regulates IL31RA expression in macrophages (By similarity).',NULL,NULL,NULL,NULL,NULL),(4372,'UniProt Function',NULL,5476,NULL,'Cytokine that may play a role in innate and adaptive immune responses. It induces various cytokines such as TNFA/TNF-alpha and IL8. It activates typical cytokine signal pathways of NF-kappa-B and p38 MAPK.',NULL,NULL,NULL,NULL,NULL),(4373,'UniProt Function',NULL,5477,NULL,'Receptor for IL1A, IL1B and IL1RN. After binding to interleukin-1 associates with the coreceptor IL1RAP to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling complex. Involved in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (PubMed:10653850).',NULL,NULL,NULL,NULL,NULL),(4374,'UniProt Function',NULL,5478,NULL,'Receptor for interleukin-36 (IL36A, IL36B and IL36G). After binding to interleukin-36 associates with the coreceptor IL1RAP to form the interleukin-36 receptor complex which mediates interleukin-36-dependent activation of NF-kappa-B, MAPK and other pathways (By similarity). The IL-36 signaling system is thought to be present in epithelial barriers and to take part in local inflammatory response; it is similar to the IL-1 system. Seems to be involved in skin inflammatory response by induction of the IL-23/IL-17/IL-22 pathway.',NULL,NULL,NULL,NULL,NULL),(4375,'UniProt Function',NULL,5479,NULL,'RNA-binding protein that plays an essential role in the biogenesis of circular RNAs (circRNAs) which are produced by back-splicing circularization of pre-mRNAs. Within the nucleus, promotes circRNAs processing by stabilizing the regulatory elements residing in the flanking introns of the circularized exons. Plays thereby a role in the back-splicing of a subset of circRNAs (PubMed:28625552). As a consequence, participates in a wide range of transcriptional and post-transcriptional processes. Binds to poly-U elements and AU-rich elements (AREs) in the 3\'-UTR of target mRNAs (PubMed:14731398). Upon viral infection, ILF3 accumulates in the cytoplasm and participates in the innate antiviral response (PubMed:21123651). Mechanistically, ILF3 becomes phosphorylated and activated by the double-stranded RNA-activated protein kinase/PKR which releases ILF3 from cellular mature circRNAs. In turn, unbound ILF3 molecules are able to interact with and thus inhibit viral mRNAs (PubMed:21123651, PubMed:28625552).',NULL,NULL,NULL,NULL,NULL),(4376,'UniProt Function',NULL,5481,NULL,'May play a regulatory role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(4377,'UniProt Function',NULL,5482,NULL,'Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways (PubMed:17878374). Is rapidly recruited by MYD88 to the receptor-signaling complex upon TLR activation to form the Myddosome together with IRAK2. Phosphorylates initially IRAK1, thus stimulating the kinase activity and intensive autophosphorylation of IRAK1. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nuclear translocation and activation. Alternatively, phosphorylates TIRAP to promote its ubiquitination and subsequent degradation. Phosphorylates NCF1 and regulates NADPH oxidase activation after LPS stimulation suggesting a similar mechanism during microbial infections.',NULL,NULL,NULL,NULL,NULL),(4378,'UniProt Function',NULL,5483,NULL,'Acts as a guanine nucleotide exchange factor (GEF) for ARF1.',NULL,NULL,NULL,NULL,NULL),(4379,'UniProt Function',NULL,5484,NULL,'Plays a crucial role in regulating the dynamics and assembly of the actin cytoskeleton. Binds to activated CDC42 but does not stimulate its GTPase activity. It associates with calmodulin. Could serve as an assembly scaffold for the organization of a multimolecular complex that would interface incoming signals to the reorganization of the actin cytoskeleton at the plasma membrane. May promote neurite outgrowth (PubMed:15695813). May play a possible role in cell cycle regulation by contributing to cell cycle progression after DNA replication arrest (PubMed:20883816).',NULL,NULL,NULL,NULL,NULL),(4380,'UniProt Function',NULL,5486,NULL,'Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:27130732, PubMed:27601598, PubMed:26687144, PubMed:22522421, PubMed:26923585). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:27130732, PubMed:26687144, PubMed:26923585). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:27130732, PubMed:26687144, PubMed:26923585). Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144).',NULL,NULL,NULL,NULL,NULL),(4381,'UniProt Function',NULL,5487,NULL,'Acts as a transcriptional regulator in adaptive response to low oxygen tension. Acts as a regulator of hypoxia-inducible gene expression (PubMed:11573933, PubMed:16126907, PubMed:19694616, PubMed:20416395, PubMed:21069422). Functions as an inhibitor of angiogenesis in hypoxic cells of the cornea. Plays a role in the development of the cardiorespiratory system. May also be involved in apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(4382,'UniProt Function',NULL,5487,NULL,'Isoform 2: Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation. Also inhibits hypoxia-inducible ARNT-mediated gene expression.',NULL,NULL,NULL,NULL,NULL),(4383,'UniProt Function',NULL,5487,NULL,'Isoform 3: Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation.',NULL,NULL,NULL,NULL,NULL),(4384,'UniProt Function',NULL,5487,NULL,'isoform 4: Attenuates the ability of transcription factor HIF1A and EPAS1/HIF2A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation (PubMed:16126907, PubMed:17998805, PubMed:19694616, PubMed:20416395). May act as a tumor suppressor and inhibits malignant cell transformation (PubMed:17998805).',NULL,NULL,NULL,NULL,NULL),(4385,'UniProt Function',NULL,5487,NULL,'Isoform 5: Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation.',NULL,NULL,NULL,NULL,NULL),(4386,'UniProt Function',NULL,5488,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(4387,'UniProt Function',NULL,5489,NULL,'HMG-I/Y bind preferentially to the minor groove of A+T rich regions in double-stranded DNA. It is suggested that these proteins could function in nucleosome phasing and in the 3\'-end processing of mRNA transcripts. They are also involved in the transcription regulation of genes containing, or in close proximity to A+T-rich regions.',NULL,NULL,NULL,NULL,NULL),(4388,'UniProt Function',NULL,5490,NULL,'This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG).',NULL,NULL,NULL,NULL,NULL),(4389,'UniProt Function',NULL,5491,NULL,'This allelic splice variant of HMSD is the precursor of the histocompatibility antigen ACC-6. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. However, associated with GVHD, a favorable graft-versus-leukemia (GVL) can be induced by donor-recipient disparities in mHags. ACC-6 is presented to the cell surface by MHC HLA-B*4403. This complex specifically elicits donor-cytotoxic T-lymphocyte (CTL) reactivity against hematologic malignancies after treatment by HLA-identical allogenic BMT. It induces cell recognition and lysis by CTL. Immunogenicity of most autosomal mHags results from single-nucleotide polymorphisms that cause amino-acid substitutions within epitopes, leading to the differential recognition of peptides between donor and recipient.',NULL,NULL,NULL,NULL,NULL),(4390,'UniProt Function',NULL,5492,NULL,'Component of the epidermal cornified cell envelopes.',NULL,NULL,NULL,NULL,NULL),(4391,'UniProt Function',NULL,5493,NULL,'Plays an important role in meiotic recombination. Stimulates DMC1-mediated strand exchange required for pairing homologous chromosomes during meiosis. The complex PSMC3IP/MND1 binds DNA, stimulates the recombinase activity of DMC1 as well as DMC1 D-loop formation from double-strand DNA. This complex stabilizes presynaptic RAD51 and DMC1 filaments formed on single strand DNA to capture double-strand DNA. This complex stimulates both synaptic and presynaptic critical steps in RAD51 and DMC1-promoted homologous pairing. May inhibit HIV-1 viral protein TAT activity and modulate the activity of proteasomes through association with PSMC3. Acts as a tissue specific coactivator of hormone-dependent transcription mediated by nuclear receptors.',NULL,NULL,NULL,NULL,NULL),(4392,'UniProt Function',NULL,5494,NULL,'The H4 subclass of histamine receptors could mediate the histamine signals in peripheral tissues. Displays a significant level of constitutive activity (spontaneous activity in the absence of agonist).',NULL,NULL,NULL,NULL,NULL),(4393,'UniProt Function',NULL,5495,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate.',NULL,NULL,NULL,NULL,NULL),(4394,'UniProt Function',NULL,5496,NULL,'Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The co-chaperones have been shown to not only regulate different steps of the ATPase cycle, but they also have an individual specificity such that one co-chaperone may promote folding of a substrate while another may promote degradation. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release. The co-chaperones are of three types: J-domain co-chaperones such as HSP40s (stimulate ATPase hydrolysis by HSP70), the nucleotide exchange factors (NEF) such as BAG1/2/3 (facilitate conversion of HSP70 from the ADP-bound to the ATP-bound state thereby promoting substrate release), and the TPR domain chaperones such as HOPX and STUB1 (PubMed:24012426, PubMed:26865365, PubMed:24318877). Maintains protein homeostasis during cellular stress through two opposing mechanisms: protein refolding and degradation. Its acetylation/deacetylation state determines whether it functions in protein refolding or protein degradation by controlling the competitive binding of co-chaperones HOPX and STUB1. During the early stress response, the acetylated form binds to HOPX which assists in chaperone-mediated protein refolding, thereafter, it is deacetylated and binds to ubiquitin ligase STUB1 that promotes ubiquitin-mediated protein degradation (PubMed:27708256). Regulates centrosome integrity during mitosis, and is required for the maintenance of a functional mitotic centrosome that supports the assembly of a bipolar mitotic spindle (PubMed:27137183). Enhances STUB1-mediated SMAD3 ubiquitination and degradation and facilitates STUB1-mediated inhibition of TGF-beta signaling (PubMed:24613385). Essential for STUB1-mediated ubiquitination and degradation of FOXP3 in regulatory T-cells (Treg) during inflammation (PubMed:23973223). Negatively regulates heat shock-induced HSF1 transcriptional activity during the attenuation and recovery phase period of the heat shock response (PubMed:9499401).',NULL,NULL,NULL,NULL,NULL),(4395,'UniProt Function',NULL,5496,NULL,'(Microbial infection) In case of rotavirus A infection, serves as a post-attachment receptor for the virus to facilitate entry into the cell.',NULL,NULL,NULL,NULL,NULL),(4396,'UniProt Function',NULL,5497,NULL,'Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity which is essential for its chaperone activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function (PubMed:11274138, PubMed:15577939, PubMed:15937123, PubMed:27353360, PubMed:29127155). Engages with a range of client protein classes via its interaction with various co-chaperone proteins or complexes, that act as adapters, simultaneously able to interact with the specific client and the central chaperone itself (PubMed:29127155). Recruitment of ATP and co-chaperone followed by client protein forms a functional chaperone. After the completion of the chaperoning process, properly folded client protein and co-chaperone leave HSP90 in an ADP-bound partially open conformation and finally, ADP is released from HSP90 which acquires an open conformation for the next cycle (PubMed:27295069, PubMed:26991466). Apart from its chaperone activity, it also plays a role in the regulation of the transcription machinery. HSP90 and its co-chaperones modulate transcription at least at three different levels (PubMed:25973397). In the first place, they alter the steady-state levels of certain transcription factors in response to various physiological cues(PubMed:25973397). Second, they modulate the activity of certain epigenetic modifiers, such as histone deacetylases or DNA methyl transferases, and thereby respond to the change in the environment (PubMed:25973397). Third, they participate in the eviction of histones from the promoter region of certain genes and thereby turn on gene expression (PubMed:25973397). Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). Antagonizes STUB1-mediated inhibition of TGF-beta signaling via inhibition of STUB1-mediated SMAD3 ubiquitination and degradation (PubMed:24613385).',NULL,NULL,NULL,NULL,NULL),(4397,'UniProt Function',NULL,5498,NULL,'Catalyzes the transfer of sulfate to beta-1,3-linked galactose residues in O-linked glycoproteins. Good substrates include asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc.',NULL,NULL,NULL,NULL,NULL),(4398,'UniProt Function',NULL,5501,NULL,'Transcriptional activator that binds to the consensus sequence 5\'-AGATAG-3\' and plays a key role in cardiac development and function (PubMed:24000169, PubMed:27984724). In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it downregulates endocardial and endothelial gene expression (PubMed:27984724). Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement (PubMed:20081228). Required during testicular development (PubMed:21220346). May play a role in sphingolipid signaling by regulating the expression of sphingosine-1-phosphate degrading enzyme, spingosine-1-phosphate lyase (PubMed:15734735).',NULL,NULL,NULL,NULL,NULL),(4399,'UniProt Function',NULL,5502,NULL,'Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968, PubMed:23932780). Specifically acts as a scaffold protein that promotes the LEC complex formation and recruitment and RNA polymerase II occupancy at snRNA genes in subnuclear bodies (PubMed:23932780).',NULL,NULL,NULL,NULL,NULL),(4400,'UniProt Function',NULL,5503,NULL,'Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III.',NULL,NULL,NULL,NULL,NULL),(4401,'UniProt Function',NULL,5504,NULL,'Enhances the promotion of guanine-nucleotide exchange by PSCD2 on ARF6 in a concentration-dependent manner.',NULL,NULL,NULL,NULL,NULL),(4402,'UniProt Function',NULL,5505,NULL,'Required for ciliogenesis (PubMed:24797473). Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length (PubMed:24853502). Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner and this regulation requires its kinase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(4403,'UniProt Function',NULL,5506,NULL,'Involved in both the assembly of spliceosomal snRNPs and the methylation of Sm proteins (PubMed:21081503, PubMed:18984161). Chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also indirectly participate in cellular volume control by activation of a swelling-induced chloride conductance pathway.',NULL,NULL,NULL,NULL,NULL),(4404,'UniProt Function',NULL,5507,NULL,'Catalyzes the post-translational methylation of isoprenylated C-terminal cysteine residues.',NULL,NULL,NULL,NULL,NULL),(4405,'UniProt Function',NULL,5508,NULL,'Ligand for the T-cell-specific cell surface receptor ICOS. Acts as a costimulatory signal for T-cell proliferation and cytokine secretion; induces also B-cell proliferation and differentiation into plasma cells. Could play an important role in mediating local tissue responses to inflammatory conditions, as well as in modulating the secondary immune response by co-stimulating memory T-cell function (By similarity).',NULL,NULL,NULL,NULL,NULL),(4406,'UniProt Function',NULL,5509,NULL,'Enhances all basic T-cell responses to a foreign antigen, namely proliferation, secretion of lymphokines, up-regulation of molecules that mediate cell-cell interaction, and effective help for antibody secretion by B-cells. Essential both for efficient interaction between T and B-cells and for normal antibody responses to T-cell dependent antigens. Does not up-regulate the production of interleukin-2, but superinduces the synthesis of interleukin-10. Prevents the apoptosis of pre-activated T-cells. Plays a critical role in CD40-mediated class switching of immunoglobin isotypes (By similarity).',NULL,NULL,NULL,NULL,NULL),(4407,'UniProt Function',NULL,5510,NULL,'Essential peptidyl-tRNA hydrolase component of the mitochondrial large ribosomal subunit. Acts as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion, possibly in case of abortive elongation. May be involved in the hydrolysis of peptidyl-tRNAs that have been prematurely terminated and thus in the recycling of stalled mitochondrial ribosomes.',NULL,NULL,NULL,NULL,NULL),(4408,'UniProt Function',NULL,5511,NULL,'Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Inhibits skeletal muscle and cardiac myocyte differentiation. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer (By similarity).',NULL,NULL,NULL,NULL,NULL),(4409,'UniProt Function',NULL,5513,NULL,'Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Inhibits skeletal muscle and cardiac myocyte differentiation. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Restricts the CLOCK and ARNTL/BMAL1 localization to the cytoplasm. Plays a role in both the input and output pathways of the circadian clock: in the input component, is involved in modulating the magnitude of photic entrainment and in the output component, contributes to the regulation of a variety of liver clock-controlled genes involved in lipid metabolism.',NULL,NULL,NULL,NULL,NULL),(4410,'UniProt Function',NULL,5514,NULL,'Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Involved in myogenesis by inhibiting skeletal muscle and cardiac myocyte differentiation and promoting muscle precursor cells proliferation. Inhibits the binding of E2A-containing protein complexes to muscle creatine kinase E-box enhancer. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer.',NULL,NULL,NULL,NULL,NULL),(4411,'UniProt Function',NULL,5515,NULL,'Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation (By similarity).',NULL,NULL,NULL,NULL,NULL),(4412,'UniProt Function',NULL,5517,NULL,'Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration.',NULL,NULL,NULL,NULL,NULL),(4413,'UniProt Function',NULL,5518,NULL,'Plays a role in the cellular breakdown of insulin, IAPP, glucagon, bradykinin, kallidin and other peptides, and thereby plays a role in intercellular peptide signaling. Degrades amyloid formed by APP and IAPP. May play a role in the degradation and clearance of naturally secreted amyloid beta-protein by neurons and microglia.',NULL,NULL,NULL,NULL,NULL),(4414,'UniProt Function',NULL,5518,NULL,'(Microbial infection) The membrane-associated isoform acts as an entry receptor for varicella-zoster virus (VZV).',NULL,NULL,NULL,NULL,NULL),(4415,'UniProt Function',NULL,5521,NULL,'May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling. May increase IGF1 receptor phosphorylation under IGF1 stimulation as well as phosphorylation of IRS1 and SHC1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4416,'UniProt Function',NULL,5522,NULL,'Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.',NULL,NULL,NULL,NULL,NULL),(4417,'UniProt Function',NULL,5524,NULL,'Converts D-glucuronic acid residues adjacent to N-sulfate sugar residues to L-iduronic acid residues, both in maturing heparan sulfate (HS) and heparin chains. This is important for further modifications that determine the specificity of interactions between these glycosaminoglycans and proteins.',NULL,NULL,NULL,NULL,NULL),(4418,'UniProt Function',NULL,5525,NULL,'Required for crossover formation and complete synapsis of homologous chromosomes during meiosis.',NULL,NULL,NULL,NULL,NULL),(4419,'UniProt Function',NULL,5526,NULL,'DNA-binding protein that may be implicated in chromatin remodeling and/or transcriptional regulation during spermiogenesis, the process of spermatid maturation into spermatozoa.',NULL,NULL,NULL,NULL,NULL),(4420,'UniProt Function',NULL,5528,NULL,'Serine/threonine-protein kinase involved in transcription regulation, apoptosis and steroidogenic gene expression. Phosphorylates JUN and RUNX2. Seems to negatively regulate apoptosis by promoting FADD phosphorylation. Enhances androgen receptor-mediated transcription. May act as a transcriptional corepressor for NK homeodomain transcription factors. The phosphorylation of NR5A1 activates SF1 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. In osteoblasts, supports transcription activation: phosphorylates RUNX2 that synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE).',NULL,NULL,NULL,NULL,NULL),(4421,'UniProt Function',NULL,5529,NULL,'Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May be involved in cytochrome c oxidase activity. May play a role in the assembly of respiratory supercomplexes.',NULL,NULL,NULL,NULL,NULL),(4422,'UniProt Function',NULL,5530,NULL,'Non-classical major histocompatibility class Ib molecule involved in immune self-nonself discrimination. In complex with B2M/beta-2-microglobulin binds nonamer self-peptides derived from the signal sequence of classical MHC class Ia molecules (VL9 peptides) (PubMed:9754572, PubMed:18083576, PubMed:18339401). Peptide-bound HLA-E-B2M heterotrimeric complex primarily functions as a ligand for natural killer (NK) cell inhibitory receptor KLRD1-KLRC1, enabling NK cells to monitor the expression of other MHC class I molecules in healthy cells and to tolerate self (PubMed:9754572, PubMed:9486650, PubMed:17179229, PubMed:18083576). Upon cellular stress, preferentially binds signal sequence-derived peptides from stress-induced chaperones and is no longer recognized by NK cell inhibitory receptor KLRD1-KLRC1, resulting in impaired protection from NK cells (PubMed:12461076). Binds signal sequence-derived peptides from non-classical MHC class Ib HLA-G molecules and acts as a ligand for NK cell activating receptor KLRD1-KLRC2, likely playing a role in the generation and effector functions of adaptive NK cells and in maternal-fetal tolerance during pregnancy (PubMed:9754572, PubMed:30134159). Besides self-peptides, can also bind and present pathogen-derived peptides conformationally similar to VL9 peptides to alpha-beta T cell receptor (TCR) on unconventional CD8+ cytotoxic T cells, ultimately triggering antimicrobial immune response (PubMed:16474394, PubMed:30087334).',NULL,NULL,NULL,NULL,NULL),(4423,'UniProt Function',NULL,5530,NULL,'(Microbial infection) Viruses like human cytomegalovirus have evolved an escape mechanism whereby virus-induced down-regulation of host MHC class I molecules is coupled to the binding of viral peptides to HLA-E, restoring HLA-E expression and inducing HLA-E-dependent NK cell immune tolerance to infected cells.',NULL,NULL,NULL,NULL,NULL),(4424,'UniProt Function',NULL,5531,NULL,'Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. Associates with chromatin and binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters (By similarity). Proposed to be involved in the innate immune response to nucleic acids by acting as a cytoplasmic promiscuous immunogenic DNA/RNA sensor (By similarity). Negatively regulates B-cell and myeloid cell differentiation. In hematopoietic stem cells may regulate the balance between self-renewal and differentiation. Involved in negative regulation of canonical Wnt signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(4425,'UniProt Function',NULL,5532,NULL,'Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Plays a role in postnatal myogenesis, is involved in satellite cell activation (By similarity).',NULL,NULL,NULL,NULL,NULL),(4426,'UniProt Function',NULL,5533,NULL,'Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation. Inhibits the phosphorylation of nucleosomal histones H3 and H2A by RPS6KA5/MSK1 and RPS6KA3/RSK2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4427,'UniProt Function',NULL,5534,NULL,'Receptor for hyaluronic acid (HA) (By similarity). Involved in cell motility (By similarity). When hyaluronan binds to HMMR, the phosphorylation of a number of proteins, including PTK2/FAK1 occurs. May also be involved in cellular transformation and metastasis formation, and in regulating extracellular-regulated kinase (ERK) activity. May act as a regulator of adipogenisis (By similarity).',NULL,NULL,NULL,NULL,NULL),(4428,'UniProt Function',NULL,5535,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(4429,'UniProt Function',NULL,5536,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(4430,'UniProt Function',NULL,5537,NULL,'Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses (PubMed:9808459). Required for normal hearing (PubMed:25816005). Negatively regulates T cell activation through negative regulation of IL2 expression by inhibiting calcineurin-NFAT pathway activation through interaction with NFATC2 (PubMed:18218901).',NULL,NULL,NULL,NULL,NULL),(4431,'UniProt Function',NULL,5539,NULL,'Acts as a co-chaperone in iron-sulfur cluster assembly in mitochondria.',NULL,NULL,NULL,NULL,NULL),(4432,'UniProt Function',NULL,5541,NULL,'Has apparently no steroid dehydrogenase activity.',NULL,NULL,NULL,NULL,NULL),(4433,'UniProt Function',NULL,5542,NULL,'DNA-binding protein that specifically binds heat shock promoter elements (HSE). Isoform HSF4A represses transcription while the isoform HSF4B activates transcription.',NULL,NULL,NULL,NULL,NULL),(4434,'UniProt Function',NULL,5543,NULL,'May act as a transcriptional factor.',NULL,NULL,NULL,NULL,NULL),(4435,'UniProt Function',NULL,5544,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(4436,'UniProt Function',NULL,5545,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds preferentially to methylated DNA (PubMed:28473536).',NULL,NULL,NULL,NULL,NULL),(4437,'UniProt Function',NULL,5546,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(4438,'UniProt Function',NULL,5547,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(4439,'UniProt Function',NULL,5548,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4440,'UniProt Function',NULL,5549,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(4441,'UniProt Function',NULL,5550,NULL,'Bifunctional enzyme (PubMed:12574510). The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides (PubMed:12869654, PubMed:12574510, PubMed:22798687). Plays a role in xenobiotic metabolism by degrading potentially toxic epoxides (By similarity). Also determines steady-state levels of physiological mediators (PubMed:12869654, PubMed:12574510, PubMed:22798687). The N-terminal domain has lipid phosphatase activity, with the highest activity towards threo-9,10-phosphonooxy-hydroxy-octadecanoic acid, followed by erythro-9,10-phosphonooxy-hydroxy-octadecanoic acid, 12-phosphonooxy-octadec-9Z-enoic acid and 12-phosphonooxy-octadec-9E-enoic acid (PubMed:12574510).',NULL,NULL,NULL,NULL,NULL),(4442,'UniProt Function',NULL,5551,NULL,'May contribute to the control of female reproductive function (By similarity). May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter.',NULL,NULL,NULL,NULL,NULL),(4443,'UniProt Function',NULL,5552,NULL,'Within the IL18 receptor complex, does not mediate IL18-binding, but involved in IL18-dependent signal transduction, leading to NF-kappa-B and JNK activation (PubMed:9792649, PubMed:14528293, PubMed:25500532). May play a role in IL18-mediated IFNG synthesis from T-helper 1 (Th1) cells (Probable).',NULL,NULL,NULL,NULL,NULL),(4444,'UniProt Function',NULL,5553,NULL,'Plays a role in the apoptotic process and has a pro-apoptotic activity.',NULL,NULL,NULL,NULL,NULL),(4445,'UniProt Function',NULL,5554,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation.',NULL,NULL,NULL,NULL,NULL),(4446,'UniProt Function',NULL,5556,NULL,'As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex. In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF2B (By similarity). Along with its paralog on chromosome Y, may contribute to spermatogenesis up to the round spermatid stage (By similarity).',NULL,NULL,NULL,NULL,NULL),(4447,'UniProt Function',NULL,5557,NULL,'Plays a role as inhibitor of T-cells proliferation induced by CD3. Inhibits expression of IL2RA on activated T-cells and secretion of IL2. Inhibits tyrosine kinases that are required for IL2 production and cellular proliferation. Inhibits phospholipase C-gamma-1/PLCG1 phosphorylation and subsequent CD3-induced changes in intracellular free calcium. Prevents nuclear translocation of nuclear factor of activated T-cell to the nucleus. Plays a role in the inhibition of T-cell proliferation via IL10 secretion by cutaneous dendritic cells. May be a marker of CD4(+) CD56(+) leukemic tumor cells.',NULL,NULL,NULL,NULL,NULL),(4448,'UniProt Function',NULL,5558,NULL,'Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4449,'UniProt Function',NULL,5559,NULL,'Probable ligand of the IGFLR1 cell membrane receptor.',NULL,NULL,NULL,NULL,NULL),(4450,'UniProt Function',NULL,5560,NULL,'Potential ligand of the IGFLR1 cell membrane receptor.',NULL,NULL,NULL,NULL,NULL),(4451,'UniProt Function',NULL,5561,NULL,'Associates with OSMR to form the interleukin-31 receptor which activates STAT3 and to a lower extent STAT1 and STAT5 (PubMed:11877449, PubMed:14504285, PubMed:15627637, PubMed:15194700). May function in skin immunity (PubMed:15184896). Mediates IL31-induced itch, probably in a manner dependent on cation channels TRPA1 and TRPV1 (By similarity). Positively regulates numbers and cycling status of immature subsets of myeloid progenitor cells in bone marrow in vivo and enhances myeloid progenitor cell survival in vitro (By similarity).',NULL,NULL,NULL,NULL,NULL),(4452,'UniProt Function',NULL,5562,NULL,'Activates STAT3 and possibly STAT1 and STAT5 through the IL31 heterodimeric receptor composed of IL31RA and OSMR (PubMed:15184896). May function in skin immunity (PubMed:15184896). Enhances myeloid progenitor cell survival in vitro (By similarity). Induces RETNLA and serum amyloid A protein expression in macrophages (By similarity).',NULL,NULL,NULL,NULL,NULL),(4453,'UniProt Function',NULL,5563,NULL,'The phosphorylation status of MCRIP1 functions as a molecular switch to regulate epithelial-mesenchymal transition. Unphosphorylated MCRIP1 binds to and inhibits the transcriptional corepressor CTBP(s). When phosphorylated by MAPK/ERK, MCRIP1 releases CTBP(s) resulting in transcriptional silencing of the E-cadherin gene and induction of epithelial-mesenchymal transition (PubMed:25728771).',NULL,NULL,NULL,NULL,NULL),(4454,'UniProt Function',NULL,5564,NULL,'May be involved in lipid homeostasis and ER stress pathways.',NULL,NULL,NULL,NULL,NULL),(4455,'UniProt Function',NULL,5565,NULL,'Factor that induces terminal differentiation of late-developing B-cells to immunoglobulin secreting cells.',NULL,NULL,NULL,NULL,NULL),(4456,'UniProt Function',NULL,5566,NULL,'This is a receptor for interleukin-3.',NULL,NULL,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (4457,'UniProt Function',NULL,5567,NULL,'Potent proinflammatory cytokine. Initially discovered as the major endogenous pyrogen, induces prostaglandin synthesis, neutrophil influx and activation, T-cell activation and cytokine production, B-cell activation and antibody production, and fibroblast proliferation and collagen production. Promotes Th17 differentiation of T-cells. Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T-helper 1 (Th1) cells (PubMed:10653850).',NULL,NULL,NULL,NULL,NULL),(4458,'UniProt Function',NULL,5568,NULL,'Protein phosphatase that may play a role in regulation of cell cycle progression via dephosphorylation of its substrates whose appropriate phosphorylation states might be crucial for cell proliferation. Selectively associates with integrin linked kinase (ILK), to modulate cell adhesion and growth factor signaling. Inhibits the ILK-GSK3B signaling axis and may play an important role in inhibiting oncogenic transformation.',NULL,NULL,NULL,NULL,NULL),(4459,'UniProt Function',NULL,5569,NULL,'Receptor-proximal protein kinase regulating integrin-mediated signal transduction (PubMed:8538749, PubMed:9736715). May act as a mediator of inside-out integrin signaling. Focal adhesion protein part of the complex ILK-PINCH. This complex is considered to be one of the convergence points of integrin- and growth factor-signaling pathway. Could be implicated in mediating cell architecture, adhesion to integrin substrates and anchorage-dependent growth in epithelial cells. Phosphorylates beta-1 and beta-3 integrin subunit on serine and threonine residues, but also AKT1 and GSK3B (PubMed:8538749, PubMed:9736715).',NULL,NULL,NULL,NULL,NULL),(4460,'UniProt Function',NULL,5570,NULL,'May play a role in local mechanisms of mucosal immunity and seems to have a proinflammatory function. May play a role in inflammatory bowel disease. Activates STAT1 and STAT3, MAPK1/3 (ERK1/2), JUN and AKT. Induces expression of SOCS3, TNF-alpha and IL-8, secretion of IL-8 and IL-10 and surface expression of ICAM1. Decreases proliferation of intestinal epithelial cells. Is inhibited by heparin.',NULL,NULL,NULL,NULL,NULL),(4461,'UniProt Function',NULL,5571,NULL,'Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4.',NULL,NULL,NULL,NULL,NULL),(4462,'UniProt Function',NULL,5572,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(4463,'UniProt Function',NULL,5573,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(4464,'UniProt Function',NULL,5574,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May play a role as a target recruitment subunit in E3 ubiquitin-protein ligase complexes and thus in ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(4465,'UniProt Function',NULL,5575,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(4466,'UniProt Function',NULL,5576,NULL,'Involved in processes that promote adipocyte differentiation, lipid accumulation, and glucose uptake in mature adipocytes.',NULL,NULL,NULL,NULL,NULL),(4467,'UniProt Function',NULL,5577,NULL,'Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways. Is rapidly recruited by MYD88 to the receptor-signaling complex upon TLR activation. Association with MYD88 leads to IRAK1 phosphorylation by IRAK4 and subsequent autophosphorylation and kinase activation. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nuclear translocation and activation. Alternatively, phosphorylates TIRAP to promote its ubiquitination and subsequent degradation. Phosphorylates the interferon regulatory factor 7 (IRF7) to induce its activation and translocation to the nucleus, resulting in transcriptional activation of type I IFN genes, which drive the cell in an antiviral state. When sumoylated, translocates to the nucleus and phosphorylates STAT3.',NULL,NULL,NULL,NULL,NULL),(4468,'UniProt Function',NULL,5579,NULL,'Functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B.',NULL,NULL,NULL,NULL,NULL),(4469,'UniProt Function',NULL,5580,NULL,'IFN-induced antiviral protein which acts as an inhibitor of cellular as well as viral processes, cell migration, proliferation, signaling, and viral replication. Enhances MAVS-mediated host antiviral responses by serving as an adapter bridging TBK1 to MAVS which leads to the activation of TBK1 and phosphorylation of IRF3 and phosphorylated IRF3 translocates into nucleus to promote antiviral gene transcription. Exihibits an antiproliferative activity via the up-regulation of cell cycle negative regulators CDKN1A/p21 and CDKN1B/p27. Normally, CDKN1B/p27 turnover is regulated by COPS5, which binds CDKN1B/p27 in the nucleus and exports it to the cytoplasm for ubiquitin-dependent degradation. IFIT3 sequesters COPS5 in the cytoplasm, thereby increasing nuclear CDKN1B/p27 protein levels. Upregulates CDKN1A/p21 by downregulating MYC, a repressor of CDKN1A/p21. Can negatively regulate the apoptotic effects of IFIT2.',NULL,NULL,NULL,NULL,NULL),(4470,'UniProt Function',NULL,5581,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(4471,'UniProt Function',NULL,5582,NULL,'IFN-induced antiviral protein which inhibits the entry of viruses to the host cell cytoplasm, permitting endocytosis, but preventing subsequent viral fusion and release of viral contents into the cytosol. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV), Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus type 1 (HIV-1) and hepatitis C virus (HCV). Can inhibit: influenza virus hemagglutinin protein-mediated viral entry, MARV and EBOV GP1,2-mediated viral entry and SARS-CoV S protein-mediated viral entry. Also implicated in cell adhesion and control of cell growth and migration. Plays a key role in the antiproliferative action of IFN-gamma either by inhibiting the ERK activation or by arresting cell growth in G1 phase in a p53-dependent manner. Acts as a positive regulator of osteoblast differentiation.',NULL,NULL,NULL,NULL,NULL),(4472,'UniProt Function',NULL,5584,NULL,'The insulin-like growth factors possess growth-promoting activity. Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF-II is influenced by placental lactogen. Also involved in tissue differentiation. Positively regulates myogenic transcription factor MYOD1 function by facilitating the recruitment of transcriptional coactivators, thereby controlling muscle terminal differentiation (By similarity). In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver (Probable). Acts as a ligand for integrin which is required for IGF2 signaling (PubMed:28873464).',NULL,NULL,NULL,NULL,NULL),(4473,'UniProt Function',NULL,5584,NULL,'Preptin undergoes glucose-mediated co-secretion with insulin, and acts as physiological amplifier of glucose-mediated insulin secretion. Exhibits osteogenic properties by increasing osteoblast mitogenic activity through phosphoactivation of MAPK1 and MAPK3.',NULL,NULL,NULL,NULL,NULL),(4474,'UniProt Function',NULL,5587,NULL,'Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4475,'UniProt Function',NULL,5588,NULL,'Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. However, the unphosphorylated form resynthesized after cell stimulation is able to bind NF-kappa-B allowing its transport to the nucleus and protecting it to further NFKBIA-dependent inactivation. Association with inhibitor kappa B-interacting NKIRAS1 and NKIRAS2 prevent its phosphorylation rendering it more resistant to degradation, explaining its slower degradation.',NULL,NULL,NULL,NULL,NULL),(4476,'UniProt Function',NULL,5589,NULL,'Serine/threonine kinase that plays an essential role in regulating inflammatory responses to viral infection, through the activation of the type I IFN, NF-kappa-B and STAT signaling. Also involved in TNFA and inflammatory cytokines, like Interleukin-1, signaling. Following activation of viral RNA sensors, such as RIG-I-like receptors, associates with DDX3X and phosphorylates interferon regulatory factors (IRFs), IRF3 and IRF7, as well as DDX3X. This activity allows subsequent homodimerization and nuclear translocation of the IRF3 leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNB. In order to establish such an antiviral state, IKBKE forms several different complexes whose composition depends on the type of cell and cellular stimuli. Thus, several scaffolding molecules including IPS1/MAVS, TANK, AZI2/NAP1 or TBKBP1/SINTBAD can be recruited to the IKBKE-containing-complexes. Activated by polyubiquitination in response to TNFA and interleukin-1, regulates the NF-kappa-B signaling pathway through, at least, the phosphorylation of CYLD. Phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. In addition, is also required for the induction of a subset of ISGs which displays antiviral activity, may be through the phosphorylation of STAT1 at \'Ser-708\'. Phosphorylation of STAT1 at \'Ser-708\' seems also to promote the assembly and DNA binding of ISGF3 (STAT1:STAT2:IRF9) complexes compared to GAF (STAT1:STAT1) complexes, in this way regulating the balance between type I and type II IFN responses. Protects cells against DNA damage-induced cell death. Also plays an important role in energy balance regulation by sustaining a state of chronic, low-grade inflammation in obesity, wich leads to a negative impact on insulin sensitivity. Phosphorylates AKT1.',NULL,NULL,NULL,NULL,NULL),(4477,'UniProt Function',NULL,5590,NULL,'Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. Inhibits DNA-binding of NF-kappa-B p50-p65 and p50-c-Rel complexes.',NULL,NULL,NULL,NULL,NULL),(4478,'UniProt Function',NULL,5591,NULL,'Target of p53/TP53 with pro-apoptotic function.',NULL,NULL,NULL,NULL,NULL),(4479,'UniProt Function',NULL,5592,NULL,'Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation and phosphorylates inhibitors of NF-kappa-B on serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. Negatively regulates the pathway by phosphorylating the scaffold protein TAXBP1 and thus promoting the assembly of the A20/TNFAIP3 ubiquitin-editing complex (composed of A20/TNFAIP3, TAX1BP1, and the E3 ligases ITCH and RNF11). Therefore, CHUK plays a key role in the negative feedback of NF-kappa-B canonical signaling to limit inflammatory gene activation. As part of the non-canonical pathway of NF-kappa-B activation, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. In turn, these complexes regulate genes encoding molecules involved in B-cell survival and lymphoid organogenesis. Participates also in the negative feedback of the non-canonical NF-kappa-B signaling pathway by phosphorylating and destabilizing MAP3K14/NIK. Within the nucleus, phosphorylates CREBBP and consequently increases both its transcriptional and histone acetyltransferase activities. Modulates chromatin accessibility at NF-kappa-B-responsive promoters by phosphorylating histones H3 at \'Ser-10\' that are subsequently acetylated at \'Lys-14\' by CREBBP. Additionally, phosphorylates the CREBBP-interacting protein NCOA3. Also phosphorylates FOXO3 and may regulate this pro-apoptotic transcription factor (PubMed:15084260).',NULL,NULL,NULL,NULL,NULL),(4480,'UniProt Function',NULL,5593,NULL,'Cytokine that stimulates the proliferation of T-lymphocytes. Stimulation by IL-15 requires interaction of IL-15 with components of IL-2R, including IL-2R beta and probably IL-2R gamma but not IL-2R alpha.',NULL,NULL,NULL,NULL,NULL),(4481,'UniProt Function',NULL,5594,NULL,'Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).',NULL,NULL,NULL,NULL,NULL),(4482,'UniProt Function',NULL,5595,NULL,'Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules (PubMed:26337392).',NULL,NULL,NULL,NULL,NULL),(4483,'UniProt Function',NULL,5596,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome. Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Also acts as a ubiquitin ligase E3 toward itself and ARRB1. Permits the nuclear export of p53/TP53. Promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma RB1 protein. Inhibits DAXX-mediated apoptosis by inducing its ubiquitination and degradation. Component of the TRIM28/KAP1-MDM2-p53/TP53 complex involved in stabilizing p53/TP53. Also component of the TRIM28/KAP1-ERBB4-MDM2 complex which links growth factor and DNA damage response pathways. Mediates ubiquitination and subsequent proteasome degradation of DYRK2 in nucleus. Ubiquitinates IGF1R and SNAI1 and promotes them to proteasomal degradation (PubMed:12821780, PubMed:15053880, PubMed:15195100, PubMed:15632057, PubMed:16337594, PubMed:17290220, PubMed:19098711, PubMed:19219073, PubMed:19837670, PubMed:19965871, PubMed:20173098, PubMed:20385133, PubMed:20858735, PubMed:22128911). Ubiquitinates DCX, leading to DCX degradation and reduction of the dendritic spine density of olfactory bulb granule cells (By similarity). Ubiquitinates DLG4, leading to proteasomal degradation of DLG4 which is required for AMPA receptor endocytosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(4484,'UniProt Function',NULL,5597,NULL,'Inhibits p53/TP53- and TP73/p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Inhibits degradation of MDM2. Can reverse MDM2-targeted degradation of TP53 while maintaining suppression of TP53 transactivation and apoptotic functions.',NULL,NULL,NULL,NULL,NULL),(4485,'UniProt Function',NULL,5598,NULL,'Nuclear chaperone required for maturation and nuclear export of pre-60S ribosome subunits (PubMed:27814492). Functions at successive maturation steps to remove ribosomal factors at critical transition points, first driving the exit of early pre-60S particles from the nucleolus and then driving late pre-60S particles from the nucleus (By similarity). At an early stage in 60S maturation, mediates the dissociation of the PeBoW complex (PES1-BOP1-WDR12) from early pre-60S particles, rendering them competent for export from the nucleolus to the nucleoplasm (By similarity). Subsequently recruited to the nucleoplasmic particles through interaction with SUMO-conjugated PELP1 complex (PubMed:27814492). This binding is only possible if the 5S RNP at the central protuberance has undergone the rotation to complete its maturation (By similarity).',NULL,NULL,NULL,NULL,NULL),(4486,'UniProt Function',NULL,5599,NULL,'Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells.',NULL,NULL,NULL,NULL,NULL),(4487,'UniProt Function',NULL,5600,NULL,'Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts (PubMed:7957936, PubMed:8898203, PubMed:9366571, PubMed:17523162, PubMed:23468132, PubMed:24806754, PubMed:24723470, PubMed:24594635, PubMed:21820390). Plays a role in the recruitment of phosphatidylcholine (PC), phosphatidylethanolamine (PE) and sphingomyelin (SM) molecules to nonraft membranes and to fu rther enrichment of SM and cholesterol in raft membranes in hepatocytes (PubMed:23468132). Required for proper phospholipid bile formation (By similarity). Indirectly involved in cholesterol efflux activity from hepatocytes into the canalicular lumen in the presence of bile salts in an ATP-dependent manner (PubMed:24045840). Promotes biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:9366571, PubMed:28012258). In cooperation with ATP8B1, functions to protect hepatocytes from the deleterious detergent activity of bile salts (PubMed:21820390). Does not confer multidrug resistance (By similarity).',NULL,NULL,NULL,NULL,NULL),(4488,'UniProt Function',NULL,5602,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(4489,'UniProt Function',NULL,5604,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(4490,'UniProt Function',NULL,5605,NULL,'Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4.',NULL,NULL,NULL,NULL,NULL),(4491,'UniProt Function',NULL,5606,NULL,'Plays a role as a transcription factor (PubMed:22132193, PubMed:25355627). Mediates positive transcriptional regulation of several chaperone genes during the heat shock response in a HSF1-dependent manner (PubMed:25355627, PubMed:25816751). Mediates negative transcriptional regulation of CDC25B expression (PubMed:22132193). Plays a role in the dephosphorylation of the heat shock factor HSF1 and ribosomal protein S6 kinase (S6K) by the protein phosphatase PP2A (PubMed:25816751, PubMed:26496226). Involved in the regulation of cell proliferation and resistance to thermal stress (PubMed:22132193, PubMed:25355627, PubMed:26496226). Involved in the cell cycle checkpoint and survival in response to ionizing radiation (PubMed:19238419, PubMed:22132193). Associates with chromatin to the CDC25B promoter (PubMed:22132193).',NULL,NULL,NULL,NULL,NULL),(4492,'UniProt Function',NULL,5607,NULL,'RNA-binding factor that may recruit target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript \'caging\' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation. Binds to the 3\'-UTR of CD44 mRNA and stabilizes it, hence promotes cell adhesion and invadopodia formation in cancer cells. Binds to beta-actin/ACTB and MYC transcripts. Binds to the 5\'-UTR of the insulin-like growth factor 2 (IGF2) mRNAs.',NULL,NULL,NULL,NULL,NULL),(4493,'UniProt Function',NULL,5608,NULL,'eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B.',NULL,NULL,NULL,NULL,NULL),(4494,'UniProt Function',NULL,5609,NULL,'Enhances IgA secretion from B-cells stimulated via CD40.',NULL,NULL,NULL,NULL,NULL),(4495,'UniProt Function',NULL,5611,NULL,'Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4.',NULL,NULL,NULL,NULL,NULL),(4496,'UniProt Function',NULL,5611,NULL,'Isoform 1 may act as a scaffolding protein that anchors ion channels in the membrane.',NULL,NULL,NULL,NULL,NULL),(4497,'UniProt Function',NULL,5611,NULL,'Isoform 3 is involved in cell cycle progression in T-cells. Appears to be involved in transcriptional regulation of SKP2 and is probably part of a transcriptional repression complex on the core promoter of the SKP2 gene. May act as a scaffold for GABPB1 (the DNA-binding subunit the GABP transcription factor complex) and HDAC3 thus maintaining transcriptional repression and blocking cell cycle progression in resting T-cells.',NULL,NULL,NULL,NULL,NULL),(4498,'UniProt Function',NULL,5612,NULL,'Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal. Signal activation necessitate an association with IL6ST. Activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis.',NULL,NULL,NULL,NULL,NULL),(4499,'UniProt Function',NULL,5612,NULL,'Low concentration of a soluble form of IL6 receptor acts as an agonist of IL6 activity.',NULL,NULL,NULL,NULL,NULL),(4500,'UniProt Function',NULL,5613,NULL,'Receptor for interleukin-33 (IL-33); signaling requires association of the coreceptor IL1RAP. Its stimulation recruits MYD88, IRAK1, IRAK4, and TRAF6, followed by phosphorylation of MAPK3/ERK1 and/or MAPK1/ERK2, MAPK14, and MAPK8. Possibly involved in helper T-cell function.',NULL,NULL,NULL,NULL,NULL),(4501,'UniProt Function',NULL,5613,NULL,'Isoform B: Inhibits IL-33 signaling.',NULL,NULL,NULL,NULL,NULL),(4502,'UniProt Function',NULL,5614,NULL,'Cytokine with immunoregulatory activity. May promote the transition between innate and adaptive immunity. Induces the production of IgG(1) and IgG(3) in B-cells (By similarity). May play a role in proliferation and maturation of natural killer (NK) cells in synergy with IL15. May regulate proliferation of mature B- and T-cells in response to activating stimuli. In synergy with IL15 and IL18 stimulates interferon gamma production in T-cells and NK cells. During T-cell mediated immune response may inhibit dendritic cells (DC) activation and maturation.',NULL,NULL,NULL,NULL,NULL),(4503,'UniProt Function',NULL,5615,NULL,'Cytokine that contributes to the inflammatory response in vivo.',NULL,NULL,NULL,NULL,NULL),(4504,'UniProt Function',NULL,5616,NULL,'Participates in at least several B-cell activation processes as well as of other cell types (PubMed:3016727). It is a costimulator of DNA-synthesis. It induces the expression of class II MHC molecules on resting B-cells. It enhances both secretion and cell surface expression of IgE and IgG1. It also regulates the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes. Positively regulates IL31RA expression in macrophages (By similarity). Stimulates autophagy in dendritic cells by interfering with mTORC1 signaling and through the induction of RUFY4 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4505,'UniProt Function',NULL,5617,NULL,'Associates with IL27 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity. IL-27 has pro- and anti-inflammatory properties, that can regulate T-helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal expansion of naive but not memory CD4 T-cells. It also strongly synergizes with IL-12 to trigger interferon-gamma/IFN-gamma production of naive CD4 T-cells, binds to the cytokine receptor WSX-1/TCCR. Another important role of IL-27 is its antitumor activity as well as its antiangiogenic activity with activation of production of antiangiogenic chemokines.',NULL,NULL,NULL,NULL,NULL),(4506,'UniProt Function',NULL,5619,NULL,'Cooperates with p53/TP53 in the negative regulatory pathway of cell growth by modulating p53-dependent transcriptional activation. Implicated as a tumor suppressor gene.',NULL,NULL,NULL,NULL,NULL),(4507,'UniProt Function',NULL,5620,NULL,'Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Through chromatin acetylation it may regulate DNA replication and may function as a transcriptional coactivator (PubMed:12750254, PubMed:16387653). Inhibits cell growth, induces a delay in S-phase progression and enhances Fas-induced apoptosis in an INCA1-dependent manner (PubMed:21750715).',NULL,NULL,NULL,NULL,NULL),(4508,'UniProt Function',NULL,5621,NULL,'Associates with IFNGR2 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:2971451, PubMed:7617032, PubMed:10986460). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:7673114). Plays an essential role in the IFN-gamma pathway that is required for the cellular response to infectious agents (PubMed:20015550).',NULL,NULL,NULL,NULL,NULL),(4509,'UniProt Function',NULL,5622,NULL,'Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:8124716, PubMed:7673114,PubMed:7615558). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:8124716, PubMed:7673114, PubMed:15356148). Required for signal transduction in contrast to other receptor subunit responsible for ligand binding (PubMed:7673114).',NULL,NULL,NULL,NULL,NULL),(4510,'UniProt Function',NULL,5623,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(4511,'UniProt Function',NULL,5624,NULL,'May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic reticulum and Golgi apparatus (By similarity).',NULL,NULL,NULL,NULL,NULL),(4512,'UniProt Function',NULL,5625,NULL,'Essential for spermiogenesis.',NULL,NULL,NULL,NULL,NULL),(4513,'UniProt Function',NULL,5626,NULL,'Key regulator of kinetochore function during meiosis I: required both for mono-orientation of kinetochores on sister chromosomes and protection of centromeric cohesin from separase-mediated cleavage. Acts by facilitating kinetochore mono-orientation during meiosis I, when kinetochores on sister chromosomes face the same direction and are thus captured and pulled by spindle fibers from the same pole. Also required to prevent cleavage of cohesin at centromeres during meiosis I, possibly by acting as a regulator of the shugoshin-dependent protection pathway. Acts in collaboration with PLK1: required for PLK1 enrichment to kinetochores. Not required during meiosis II or mitosis.',NULL,NULL,NULL,NULL,NULL),(4514,'UniProt Function',NULL,5627,NULL,'Is a guanine nucleotide exchange factor for the ARF GTP-binding proteins.',NULL,NULL,NULL,NULL,NULL),(4515,'UniProt Function',NULL,5628,NULL,'Strong inhibitor of acrosin in male and/or female genital tract. Also inhibits trypsin.',NULL,NULL,NULL,NULL,NULL),(4516,'UniProt Function',NULL,5629,NULL,'Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating and desquamation-involved proteases. Inhibits KLK5, it\'s major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin.',NULL,NULL,NULL,NULL,NULL),(4517,'UniProt Function',NULL,5631,NULL,'Serine protease.',NULL,NULL,NULL,NULL,NULL),(4518,'UniProt Function',NULL,5632,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4519,'UniProt Function',NULL,5633,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to the DNA sequence 5\'-AA[AT]TTTTATTAC-3\'.',NULL,NULL,NULL,NULL,NULL),(4520,'UniProt Function',NULL,5634,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4521,'UniProt Function',NULL,5635,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures.',NULL,NULL,NULL,NULL,NULL),(4522,'UniProt Function',NULL,5636,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(4523,'UniProt Function',NULL,5637,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(4524,'UniProt Function',NULL,5638,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4525,'UniProt Function',NULL,5640,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4526,'UniProt Function',NULL,5641,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4527,'UniProt Function',NULL,5642,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4528,'UniProt Function',NULL,5643,NULL,'Involved in sperm-egg adhesion. Upon fertilization sperm must first penetrate a layer of cumulus cells that surrounds the egg before reaching the zona pellucida. The cumulus cells are embedded in a matrix containing hyaluronic acid which is formed prior to ovulation. This protein aids in penetrating the layer of cumulus cells by digesting hyaluronic acid.',NULL,NULL,NULL,NULL,NULL),(4529,'UniProt Function',NULL,5646,NULL,'Receptor for IL17A (PubMed:17911633, PubMed:9367539). Receptor for IL17F (PubMed:19838198, PubMed:17911633). Binds to IL17A with higher affinity than to IL17F (PubMed:17911633). Binds IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RC (PubMed:16785495). Also binds heterodimers formed by IL17A and IL17F as part of a heterodimeric complex with IL17RC (PubMed:18684971). Receptor for IL17C as part of a heterodimeric complex with IL17RE (PubMed:21993848). Activation of IL17RA leads to induction of expression of inflammatory chemokines and cytokines such as CXCL1, CXCL8/IL8 and IL6 (PubMed:16785495, PubMed:17911633, PubMed:18684971).',NULL,NULL,NULL,NULL,NULL),(4530,'UniProt Function',NULL,5647,NULL,'Receptor for the proinflammatory cytokines IL17B and IL17E. May play a role in controlling the growth and/or differentiation of hematopoietic cells.',NULL,NULL,NULL,NULL,NULL),(4531,'UniProt Function',NULL,5648,NULL,'Receptor for IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RA (PubMed:16785495). Receptor for the heterodimer formed by IL17A and IL17B as part of a heterodimeric complex with IL17RA (PubMed:18684971). Has also been shown to be the cognate receptor for IL17F and to bind IL17A with high affinity without the need for IL17RA (PubMed:17911633). Activation of IL17RC leads to induction of expression of inflammatory chemokines and cytokines such as CXCL1 (PubMed:16785495).',NULL,NULL,NULL,NULL,NULL),(4532,'UniProt Function',NULL,5648,NULL,'Isoform 5: Receptor for both IL17A and IL17F.',NULL,NULL,NULL,NULL,NULL),(4533,'UniProt Function',NULL,5648,NULL,'Isoform 6: Does not bind IL17A or IL17F.',NULL,NULL,NULL,NULL,NULL),(4534,'UniProt Function',NULL,5648,NULL,'Isoform 7: Does not bind IL17A or IL17F.',NULL,NULL,NULL,NULL,NULL),(4535,'UniProt Function',NULL,5648,NULL,'Isoform 8: Receptor for both IL17A and IL17F.',NULL,NULL,NULL,NULL,NULL),(4536,'UniProt Function',NULL,5649,NULL,'Isoform 2 is a receptor for IL22. Binds to IL22, prevents interaction with the functional IL-22R complex and blocks the activity of IL22 (in vitro). May play an important role as an IL22 antagonist in the regulation of inflammatory responses.',NULL,NULL,NULL,NULL,NULL),(4537,'UniProt Function',NULL,5649,NULL,'Isoform 1 may play a role in establishing and maintaining successful pregnancy.',NULL,NULL,NULL,NULL,NULL),(4538,'UniProt Function',NULL,5650,NULL,'Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction and it is particularly responsible for the synthesis of high molecular mass hyaluronan. Required for the transition of endocardial cushion cells into mesenchymal cells, a process crucial for heart development. May also play a role in vasculogenesis. High molecular mass hyaluronan also play a role in early contact inhibition a process which stops cell growth when cells come into contact with each other or the extracellular matrix (By similarity).',NULL,NULL,NULL,NULL,NULL),(4539,'UniProt Function',NULL,5651,NULL,'Catalyzes the first and rate limiting step of the catabolism of the essential amino acid tryptophan along the kynurenine pathway (PubMed:17671174). Involved in immune regulation. May not play a significant role in tryptophan-related tumoral resistance (PubMed:25691885).',NULL,NULL,NULL,NULL,NULL),(4540,'UniProt Function',NULL,5652,NULL,'As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex. In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF2B (By similarity). Along with its paralog on chromosome Y, may contribute to spermatogenesis up to the round spermatid stage (By similarity).',NULL,NULL,NULL,NULL,NULL),(4541,'UniProt Function',NULL,5653,NULL,'Cytokine that plays a crucial role in innate immunity of the epithelium, including to intestinal bacterial pathogens, in an autocrine manner. Stimulates the production of antibacterial peptides and proinflammatory molecules for host defense by signaling through the NF-kappa-B and MAPK pathways. Acts synergically with IL22 in inducing the expression of antibacterial peptides, including S100A8, S100A9, REG3A and REG3G. Synergy is also observed with TNF and IL1B in inducing DEFB2 from keratinocytes. Depending on the type of insult, may have both protective and pathogenic properties, either by maintaining epithelial homeostasis after an inflammatory challenge or by promoting inflammatory phenotype. Enhanced IL17C/IL17RE signaling may also lead to greater susceptibility to autoimmune diseases.',NULL,NULL,NULL,NULL,NULL),(4542,'UniProt Function',NULL,5654,NULL,'Putative membrane receptor.',NULL,NULL,NULL,NULL,NULL),(4543,'UniProt Function',NULL,5655,NULL,'Induces activation of NF-kappa-B and stimulates production of the proinflammatory chemokine IL-8. Proinflammatory cytokine favoring Th2-type immune responses.',NULL,NULL,NULL,NULL,NULL),(4544,'UniProt Function',NULL,5656,NULL,'Associates with EBI3 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity. IL-27 has pro- and anti-inflammatory properties, that can regulate T-helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal expansion of naive but not memory CD4 T-cells. It also strongly synergizes with IL-12 to trigger interferon-gamma/IFN-gamma production of naive CD4 T-cells, binds to the cytokine receptor WSX-1/TCCR which appears to be required but not sufficient for IL-27-mediated signal transduction. IL-27 potentiate the early phase of TH1 response and suppress TH2 and TH17 differentiation. It induces the differentiation of TH1 cells via two distinct pathways, p38 MAPK/TBX21- and ICAM1/ITGAL/ERK-dependent pathways. It also induces STAT1, STAT3, STAT4 and STAT5 phosphorylation and activates TBX21/T-Bet via STAT1 with resulting IL12RB2 up-regulation, an event crucial to TH1 cell commitment. It suppresses the expression of GATA3, the inhibitor TH1 cells development. In CD8 T-cells, it activates STATs as well as GZMB. IL-27 reveals to be a potent inhibitor of TH17 cell development and of IL-17 production. Indeed IL27 alone is also able to inhibit the production of IL17 by CD4 and CD8 T-cells. While IL-27 suppressed the development of proinflammatory Th17 cells via STAT1, it inhibits the development of anti-inflammatory inducible regulatory T-cells, iTreg, independently of STAT1. IL-27 has also an effect on cytokine production, it suppresses proinflammatory cytokine production such as IL2, IL4, IL5 and IL6 and activates suppressors of cytokine signaling such as SOCS1 and SOCS3. Apart from suppression of cytokine production, IL-27 also antagonizes the effects of some cytokines such as IL6 through direct effects on T-cells. Another important role of IL-27 is its antitumor activity as well as its antiangiogenic activity with activation of production of antiangiogenic chemokines such as IP-10/CXCL10 and MIG/CXCL9. In vein endothelial cells, it induces IRF1/interferon regulatory factor 1 and increase the expression of MHC class II transactivator/CIITA with resulting up-regulation of major histocompatibility complex class II. IL-27 also demonstrates antiviral activity with inhibitory properties on HIV-1 replication.',NULL,NULL,NULL,NULL,NULL),(4545,'UniProt Function',NULL,5657,NULL,'Severs actin filaments and accelerates their polymerization and depolymerization.',NULL,NULL,NULL,NULL,NULL),(4546,'UniProt Function',NULL,5658,NULL,'Seems to be involved in p53/TP53 activation and p53/TP53-dependent apoptotic pathways, probably by enhancing acetylation of p53/TP53. Component of a mSin3A-like corepressor complex, which is probably involved in deacetylation of nucleosomal histones. ING2 activity seems to be modulated by binding to phosphoinositides (PtdInsPs).',NULL,NULL,NULL,NULL,NULL),(4547,'UniProt Function',NULL,5659,NULL,'Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.',NULL,NULL,NULL,NULL,NULL),(4548,'UniProt Function',NULL,5660,NULL,'Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Through chromatin acetylation it may function in DNA replication. May inhibit tumor progression by modulating the transcriptional output of signaling pathways which regulate cell proliferation. Can suppress brain tumor angiogenesis through transcriptional repression of RELA/NFKB3 target genes when complexed with RELA. May also specifically suppress loss of contact inhibition elicited by activated oncogenes such as MYC. Represses hypoxia inducible factor\'s (HIF) activity by interacting with HIF prolyl hydroxylase 2 (EGLN1). Can enhance apoptosis induced by serum starvation in mammary epithelial cell line HC11 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4549,'UniProt Function',NULL,5661,NULL,'Exhibits a low antiviral activity against hepatitis C virus.',NULL,NULL,NULL,NULL,NULL),(4550,'UniProt Function',NULL,5663,NULL,'Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis. May act as an inhibitor of EIF4E1 activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(4551,'UniProt Function',NULL,5664,NULL,'Required for the binding of mRNA to ribosomes. Functions in close association with EIF4-F and EIF4-A. Binds near the 5\'-terminal cap of mRNA in presence of EIF-4F and ATP. Promotes the ATPase activity and the ATP-dependent RNA unwinding activity of both EIF4-A and EIF4-F.',NULL,NULL,NULL,NULL,NULL),(4552,'UniProt Function',NULL,5665,NULL,'IFN-induced antiviral protein which disrupts intracellular cholesterol homeostasis. Inhibits the entry of viruses to the host cell cytoplasm by preventing viral fusion with cholesterol depleted endosomes. May inactivate new enveloped viruses which buds out of the infected cell, by letting them go out with a cholesterol depleted membrane. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV) and Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus type 1 (HIV-1) and vesicular stomatitis virus (VSV). Can inhibit: influenza virus hemagglutinin protein-mediated viral entry, MARV and EBOV GP1,2-mediated viral entry, SARS-CoV S protein-mediated viral entry and VSV G protein-mediated viral entry. Plays a critical role in the structural stability and function of vacuolar ATPase (v-ATPase). Establishes physical contact with the v-ATPase of endosomes which is critical for proper clathrin localization and is also required for the function of the v-ATPase to lower the pH in phagocytic endosomes thus establishing an antiviral state.',NULL,NULL,NULL,NULL,NULL),(4553,'UniProt Function',NULL,5666,NULL,'Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.',NULL,NULL,NULL,NULL,NULL),(4554,'UniProt Function',NULL,5667,NULL,'Small GTPase-like component of the intraflagellar transport (IFT) complex B.',NULL,NULL,NULL,NULL,NULL),(4555,'UniProt Function',NULL,5668,NULL,'Probable adapter protein involved in different biological processes (PubMed:22427340, PubMed:27194766). Part of the signaling pathways that lead to apoptosis (PubMed:18330707, PubMed:27673746, PubMed:24970806). Involved in type-I interferon-induced apoptosis characterized by a rapid and robust release of cytochrome C from the mitochondria and activation of BAX and caspases 2, 3, 6, 8 and 9 (PubMed:18330707, PubMed:27673746). Also functions in TNFSF10-induced apoptosis (PubMed:24970806). May also have a function in the nucleus, where it may be involved in the interferon-induced negative regulation of the transcriptional activity of NR4A1, NR4A2 and NR4A3 through the enhancement of XPO1-mediated nuclear export of these nuclear receptors (PubMed:22427340). May thereby play a role in the vascular response to injury (By similarity). In the innate immune response, has an antiviral activity towards hepatitis C virus/HCV (PubMed:27194766, PubMed:27777077). May prevent the replication of the virus by recruiting both the hepatitis C virus non-structural protein 5A/NS5A and the ubiquitination machinery via SKP2, promoting the ubiquitin-mediated proteasomal degradation of NS5A (PubMed:27194766, PubMed:27777077).',NULL,NULL,NULL,NULL,NULL),(4556,'UniProt Function',NULL,5669,NULL,'Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.',NULL,NULL,NULL,NULL,NULL),(4557,'UniProt Function',NULL,5670,NULL,'Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25443296). Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6 (PubMed:25443296). Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(4558,'UniProt Function',NULL,5671,NULL,'Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro-apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5\'-AAAGACATG-3\' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear.',NULL,NULL,NULL,NULL,NULL),(4559,'UniProt Function',NULL,5672,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). IgD is the major antigen receptor isotype on the surface of most peripheral B-cells, where it is coexpressed with IgM. The membrane-bound IgD (mIgD) induces the phosphorylation of CD79A and CD79B by the Src family of protein tyrosine kinases. Soluble IgD (sIgD) concentration in serum below those of IgG, IgA, and IgM but much higher than that of IgE. IgM and IgD molecules present on B cells have identical V regions and antigen-binding sites. After the antigen binds to the B-cell receptor, the secreted form sIgD is shut off. IgD is a potent inducer of TNF, IL1B, and IL1RN. IgD also induces release of IL6, IL10, and LIF from peripheral blood mononuclear cells. Monocytes seem to be the main producers of cytokines in vitro in the presence of IgD (PubMed:8774350, PubMed:10702483, PubMed:11282392).',NULL,NULL,NULL,NULL,NULL),(4560,'UniProt Function',NULL,5675,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(4561,'UniProt Function',NULL,5676,NULL,'Provides, together with MAGI1, an adhesion machinery at tight junctions, which may regulate the permeability of kidney glomerulus and small intestinal epithelial cells. Mediates calcium-independent homophilic cell adhesion. In testis, it may function as a cell adhesion molecule rather than a tight-junction protein. It may participate in the adhesion between spermatogonia-spermatogonia, spermatogonia-Sertoli cells, and Sertoli cells-Sertoli cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(4562,'UniProt Function',NULL,5677,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(4563,'UniProt Function',NULL,5679,NULL,'Probable cell membrane receptor for the IGF-like family proteins. Binds IGFL1 and IGFL3 with a higher affinity. May also bind IGFL2.',NULL,NULL,NULL,NULL,NULL),(4564,'UniProt Function',NULL,5680,NULL,'Intercellular signal essential for a variety of patterning events during development. Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. Implicated in endochondral ossification: may regulate the balance between growth and ossification of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP) (By similarity).',NULL,NULL,NULL,NULL,NULL),(4565,'UniProt Function',NULL,5681,NULL,'Regulates the expression of IL-2, IL-6, and other cytokines through regulation on NF-kappa-B activity. Functions in the regulation of inflammatory responses. Involved in the induction of T helper 17 cells (Th17) differentiation upon recognition of antigen by T cell antigen receptor (TCR). May also regulate TCR-induced negative selection of thymocytes.',NULL,NULL,NULL,NULL,NULL),(4566,'UniProt Function',NULL,5682,NULL,'Transcription factor that plays an important role in the regulation of lymphocyte differentiation. Plays an essential role in regulation of B-cell differentiation, proliferation and maturation to an effector state. Involved in regulating BCL2 expression and controlling apoptosis in T-cells in an IL2-dependent manner.',NULL,NULL,NULL,NULL,NULL),(4567,'UniProt Function',NULL,5683,NULL,'A proinflammatory cytokine primarily involved in polarized T-helper 1 (Th1) cell and natural killer (NK) cell immune responses (Probable). Upon binding to IL18R1 and IL18RAP, forms a signaling ternary complex which activates NF-kappa-B, triggering synthesis of inflammatory mediators (PubMed:14528293, PubMed:25500532). Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T-helper 1 (Th1) cells and natural killer (NK) cells (Probable) (PubMed:10653850).',NULL,NULL,NULL,NULL,NULL),(4568,'UniProt Function',NULL,5684,NULL,'Cytokine that stimulates the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells and induces megakaryocyte maturation resulting in increased platelet production (PubMed:2145578). Also promotes the proliferation of hepatocytes in response to liver damage. Binding to its receptor formed by IL6ST and either IL11RA1 or IL11RA2 activates a signaling cascade that promotes cell proliferation (PubMed:12919066). Signaling leads to the activation of intracellular protein kinases and the phosphorylation of STAT3.',NULL,NULL,NULL,NULL,NULL),(4569,'UniProt Function',NULL,5685,NULL,'Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2.',NULL,NULL,NULL,NULL,NULL),(4570,'UniProt Function',NULL,5686,NULL,'Regulates the activity of the neutrophil proteases elastase, cathepsin G, proteinase-3, chymase, chymotrypsin, and kallikrein-3. Also functions as a potent intracellular inhibitor of granzyme H.',NULL,NULL,NULL,NULL,NULL),(4571,'UniProt Function',NULL,5687,NULL,'Ligand for IL17RA and IL17RC (PubMed:17911633). The heterodimer formed by IL17A and IL17F is a ligand for the heterodimeric complex formed by IL17RA and IL17RC (PubMed:18684971). Involved in inducing stromal cells to produce proinflammatory and hematopoietic cytokines (PubMed:8676080).',NULL,NULL,NULL,NULL,NULL),(4572,'UniProt Function',NULL,5688,NULL,'High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor.',NULL,NULL,NULL,NULL,NULL),(4573,'UniProt Function',NULL,5689,NULL,'Probable B cell-associated cytokine that plays a role in the regulation of humoral immune responses. Involved in lymphocyte B cell development and immunoglobulin/IgA production.',NULL,NULL,NULL,NULL,NULL),(4574,'UniProt Function',NULL,5690,NULL,'Has antiproliferative properties on melanoma cells and may contribute to terminal cell differentiation.',NULL,NULL,NULL,NULL,NULL),(4575,'UniProt Function',NULL,5691,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4576,'UniProt Function',NULL,5692,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(4577,'UniProt Function',NULL,5693,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(4578,'UniProt Function',NULL,5694,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(4579,'UniProt Function',NULL,5695,NULL,'Has a chaperone-like activity preventing polyglutamine (polyQ) aggregation of HTT. Protects against HTT polyQ-mediated apoptosis in Neuro2a neuronal cells. Required for optimal NAA10-NAA15 complex-mediated N-terminal acetylation.',NULL,NULL,NULL,NULL,NULL),(4580,'UniProt Function',NULL,5696,NULL,'Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction. Also able to catalyze the synthesis of chito-oligosaccharide depending on the substrate (By similarity).',NULL,NULL,NULL,NULL,NULL),(4581,'UniProt Function',NULL,5697,NULL,'Has a pivotal role in cytoprotective cellular mechanisms triggered by oxygen deprivation. May play a role as a molecular chaperone and participate in protein folding.',NULL,NULL,NULL,NULL,NULL),(4582,'UniProt Function',NULL,5699,NULL,'Has antiviral, antibacterial and anticancer activities.',NULL,NULL,NULL,NULL,NULL),(4583,'UniProt Function',NULL,5700,NULL,'Required for normal bone mineralization.',NULL,NULL,NULL,NULL,NULL),(4584,'UniProt Function',NULL,5701,NULL,'Type I interferon required for maintaining basal levels of IFN-regulated genes, including 2\'-5\'-oligoadenylate synthetase, IRF7 and ISG15, in the female reproductive tract. Directly mediates protection against viral and bacterial genital infections (By similarity).',NULL,NULL,NULL,NULL,NULL),(4585,'UniProt Function',NULL,5702,NULL,'Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.',NULL,NULL,NULL,NULL,NULL),(4586,'UniProt Function',NULL,5704,NULL,'Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.',NULL,NULL,NULL,NULL,NULL),(4587,'UniProt Function',NULL,5705,NULL,'Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.',NULL,NULL,NULL,NULL,NULL),(4588,'UniProt Function',NULL,5706,NULL,'Produced by lymphocytes activated by specific antigens or mitogens. IFN-gamma, in addition to having antiviral activity, has important immunoregulatory functions. It is a potent activator of macrophages, it has antiproliferative effects on transformed cells and it can potentiate the antiviral and antitumor effects of the type I interferons.',NULL,NULL,NULL,NULL,NULL),(4589,'UniProt Function',NULL,5707,NULL,'Functions as a cell adhesion molecule through homophilic interaction. Stimulates cell growth.',NULL,NULL,NULL,NULL,NULL),(4590,'UniProt Function',NULL,5708,NULL,'The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. May play a role in synapse maturation (PubMed:21076856, PubMed:24132240). Ca(2+)-dependent exocytosis of IGF1 is required for sensory perception of smell in the olfactory bulb (By similarity). Acts as a ligand for IGF1R. Binds to the alpha subunit of IGF1R, leading to the activation of the intrinsic tyrosine kinase activity which autophosphorylates tyrosine residues in the beta subunit thus initiatiating a cascade of down-stream signaling events leading to activation of the PI3K-AKT/PKB and the Ras-MAPK pathways. Binds to integrins ITGAV:ITGB3 and ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and IGFR1 are essential for IGF1 signaling. Induces the phosphorylation and activation of IGFR1, MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:19578119, PubMed:22351760, PubMed:23696648, PubMed:23243309).',NULL,NULL,NULL,NULL,NULL),(4591,'UniProt Function',NULL,5709,NULL,'Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4592,'UniProt Function',NULL,5710,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(4593,'UniProt Function',NULL,5711,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(4594,'UniProt Function',NULL,5712,NULL,'Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription.',NULL,NULL,NULL,NULL,NULL),(4595,'UniProt Function',NULL,5713,NULL,'Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation and phosphorylates inhibitors of NF-kappa-B on 2 critical serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. In addition to the NF-kappa-B inhibitors, phosphorylates several other components of the signaling pathway including NEMO/IKBKG, NF-kappa-B subunits RELA and NFKB1, as well as IKK-related kinases TBK1 and IKBKE. IKK-related kinase phosphorylations may prevent the overproduction of inflammatory mediators since they exert a negative regulation on canonical IKKs. Phosphorylates FOXO3, mediating the TNF-dependent inactivation of this pro-apoptotic transcription factor. Also phosphorylates other substrates including NCOA3, BCL10 and IRS1. Within the nucleus, acts as an adapter protein for NFKBIA degradation in UV-induced NF-kappa-B activation.',NULL,NULL,NULL,NULL,NULL),(4596,'UniProt Function',NULL,5714,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). Ig alpha is the major immunoglobulin class in body secretions (PubMed:2241915).',NULL,NULL,NULL,NULL,NULL),(4597,'UniProt Function',NULL,5716,NULL,'Associates with Ikaros at centromeric heterochromatin.',NULL,NULL,NULL,NULL,NULL),(4598,'UniProt Function',NULL,5717,NULL,'DNA-binding protein that binds to the 5\'GGGAATRCC-3\' Ikaros-binding sequence. Transcriptional repressor. Interacts with SPI1 and MITF to repress transcription of the CTSK and ACP5 promoters via recruitment of corepressors SIN3A and CTBP2. May be involved in the development of central and peripheral nervous systems. Essential for the inhibitory function of regulatory T-cells (Treg). Mediates FOXP3-mediated gene silencing in regulatory T-cells (Treg) via recruitment of corepressor CTBP1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4599,'UniProt Function',NULL,5718,NULL,'DNA-binding protein that binds to the 5\'GNNTGTNG-3\' core sequence. Transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(4600,'UniProt Function',NULL,5719,NULL,'Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells.',NULL,NULL,NULL,NULL,NULL),(4601,'UniProt Function',NULL,5720,NULL,'Produced by activated macrophages, IL-1 stimulates thymocyte proliferation by inducing IL-2 release, B-cell maturation and proliferation, and fibroblast growth factor activity. IL-1 proteins are involved in the inflammatory response, being identified as endogenous pyrogens, and are reported to stimulate the release of prostaglandin and collagenase from synovial cells.',NULL,NULL,NULL,NULL,NULL),(4602,'UniProt Function',NULL,5721,NULL,'Appears to function predominantly as a heterodimeric complex with ILF3. This complex may regulate transcription of the IL2 gene during T-cell activation. It can also promote the formation of stable DNA-dependent protein kinase holoenzyme complexes on DNA. Essential for the efficient reshuttling of ILF3 (isoform 1 and isoform 2) into the nucleus.',NULL,NULL,NULL,NULL,NULL),(4603,'UniProt Function',NULL,5722,NULL,'Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language.',NULL,NULL,NULL,NULL,NULL),(4604,'UniProt Function',NULL,5723,NULL,'Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells. Isoform Short does not bind folate.',NULL,NULL,NULL,NULL,NULL),(4605,'UniProt Function',NULL,5724,NULL,'Nuclear phosphoprotein which forms a tight but non-covalently linked complex with the JUN/AP-1 transcription factor. In the heterodimer, FOS and JUN/AP-1 basic regions each seems to interact with symmetrical DNA half sites. On TGF-beta activation, forms a multimeric SMAD3/SMAD4/JUN/FOS complex at the AP1/SMAD-binding site to regulate TGF-beta-mediated signaling. Has a critical function in regulating the development of cells destined to form and maintain the skeleton. It is thought to have an important role in signal transduction, cell proliferation and differentiation. In growing cells, activates phospholipid synthesis, possibly by activating CDS1 and PI4K2A. This activity requires Tyr-dephosphorylation and association with the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(4606,'UniProt Function',NULL,5725,NULL,'Possible transcriptional factor.',NULL,NULL,NULL,NULL,NULL),(4607,'UniProt Function',NULL,5726,NULL,'Probable transcription factor involved in embryogenesis and somatogenesis.',NULL,NULL,NULL,NULL,NULL),(4608,'UniProt Function',NULL,5727,NULL,'Acts as an actin bundling protein.',NULL,NULL,NULL,NULL,NULL),(4609,'UniProt Function',NULL,5729,NULL,'Ferric-chelate reductases reduce Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm.',NULL,NULL,NULL,NULL,NULL),(4610,'UniProt Function',NULL,5730,NULL,'Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream signaling pathways (PubMed:2494176, PubMed:24692546). Follitropin is involved in follicle development and spermatogenesis in reproductive organs (PubMed:407105, PubMed:8220432).',NULL,NULL,NULL,NULL,NULL),(4611,'UniProt Function',NULL,5731,NULL,'Involved in GDP-fucose import from the cytoplasm into the Golgi lumen.',NULL,NULL,NULL,NULL,NULL),(4612,'UniProt Function',NULL,5732,NULL,'Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity).',NULL,NULL,NULL,NULL,NULL),(4613,'UniProt Function',NULL,5733,NULL,'RNA-binding protein required for embryonic and postnatal development of muscle tissue. May regulate intracellular transport and local translation of certain mRNAs (By similarity).',NULL,NULL,NULL,NULL,NULL),(4614,'UniProt Function',NULL,5734,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(4615,'UniProt Function',NULL,5735,NULL,'Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.',NULL,NULL,NULL,NULL,NULL),(4616,'UniProt Function',NULL,5736,NULL,'Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.',NULL,NULL,NULL,NULL,NULL),(4617,'UniProt Function',NULL,5738,NULL,'Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.',NULL,NULL,NULL,NULL,NULL),(4618,'UniProt Function',NULL,5739,NULL,'Receptor for Wnt proteins. Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes. The beta-catenin canonical signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Coreceptor along with RYK of Wnt proteins, such as WNT1.',NULL,NULL,NULL,NULL,NULL),(4619,'UniProt Function',NULL,5740,NULL,'Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction. Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels.',NULL,NULL,NULL,NULL,NULL),(4620,'UniProt Function',NULL,5741,NULL,'Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6-phosphatase. May not play a role in homeostatic regulation of blood glucose levels.',NULL,NULL,NULL,NULL,NULL),(4621,'UniProt Function',NULL,5744,NULL,'Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids.',NULL,NULL,NULL,NULL,NULL),(4622,'UniProt Function',NULL,5745,NULL,'Major enzyme for galactose metabolism.',NULL,NULL,NULL,NULL,NULL),(4623,'UniProt Function',NULL,5747,NULL,'Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5\'-[AT]GATA[AG]-3\' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781).',NULL,NULL,NULL,NULL,NULL),(4624,'UniProt Function',NULL,5748,NULL,'Scaffolding protein that enhances integrin activation mediated by TLN1 and/or TLN2, but activates integrins only weakly by itself. Binds to membranes enriched in phosphoinositides. Enhances integrin-mediated cell adhesion onto the extracellular matrix and cell spreading; this requires both its ability to interact with integrins and with phospholipid membranes. Required for the assembly of focal adhesions. Participates in the connection between extracellular matrix adhesion sites and the actin cytoskeleton and also in the orchestration of actin assembly and cell shape modulation. Recruits FBLIM1 to focal adhesions. Plays a role in the TGFB1 and integrin signaling pathways. Stabilizes active CTNNB1 and plays a role in the regulation of transcription mediated by CTNNB1 and TCF7L2/TCF4 and in Wnt signaling.',NULL,NULL,NULL,NULL,NULL),(4625,'UniProt Function',NULL,5749,NULL,'Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape.',NULL,NULL,NULL,NULL,NULL),(4626,'UniProt Function',NULL,5750,NULL,'Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Activates JNK1 via CDC42 but not RAC1. Binds to phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate (By similarity).',NULL,NULL,NULL,NULL,NULL),(4627,'UniProt Function',NULL,5751,NULL,'Has a negative effect on cell proliferation.',NULL,NULL,NULL,NULL,NULL),(4628,'UniProt Function',NULL,5753,NULL,'Together with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerizes to form an insoluble fibrin matrix. Has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the antibacterial immune response via both innate and T-cell mediated pathways.',NULL,NULL,NULL,NULL,NULL),(4629,'UniProt Function',NULL,5754,NULL,'Probably involved in nervous system development and function.',NULL,NULL,NULL,NULL,NULL),(4630,'UniProt Function',NULL,5755,NULL,'G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin-sensitive, G(i/o)-alpha family of G proteins but also to the Gq family (PubMed:12496283, PubMed:12711604, PubMed:23589301). Its activation results in the formation of inositol 1,4,5-trisphosphate, the mobilization of intracellular calcium, the phosphorylation of the MAPK3/ERK1 and MAPK1/ERK2 kinases and the inhibition of intracellular cAMP accumulation. May play a role in glucose homeostasis by regulating the secretion of GLP-1, in response to short-chain fatty acids accumulating in the intestine. May also regulate the production of LEP/Leptin, a hormone acting on the central nervous system to inhibit food intake. Finally, may also regulate whole-body energy homeostasis through adipogenesis regulating both differentiation and lipid storage of adipocytes. In parallel to its role in energy homeostasis, may also mediate the activation of the inflammatory and immune responses by SCFA in the intestine, regulating the rapid production of chemokines and cytokines. May also play a role in the resolution of the inflammatory response and control chemotaxis in neutrophils. In addition to SCFAs, may also be activated by the extracellular lectin FCN1 in a process leading to activation of monocytes and inducing the secretion of interleukin-8/IL-8 in response to the presence of microbes (PubMed:21037097). Among SCFAs, the fatty acids containing less than 6 carbons, the most potent activators are probably acetate, propionate and butyrate (PubMed:12496283, PubMed:12711604). Exhibits a SCFA-independent constitutive G protein-coupled receptor activity (PubMed:23066016).',NULL,NULL,NULL,NULL,NULL),(4631,'UniProt Function',NULL,5756,NULL,'Involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. It N-oxygenates primary aliphatic alkylamines as well as secondary and tertiary amines. Plays an important role in the metabolism of trimethylamine (TMA), via the production of TMA N-oxide (TMAO). Is also able to perform S-oxidation when acting on sulfide compounds (PubMed:9224773).',NULL,NULL,NULL,NULL,NULL),(4632,'UniProt Function',NULL,5757,NULL,'Isoform 1: Heme transporter that exports cytoplasmic heme. It can also export coproporphyrin and protoporphyrin IX, which are both intermediate products in the heme biosynthetic pathway. Does not export bilirubin. Heme export depends on the presence of HPX and is required to maintain intracellular free heme balance, protecting cells from heme toxicity. Heme export provides protection from heme or ferrous iron toxicities in liver, brain, sensory neurons and during erythtopoiesis, a process in which heme synthesis intensifies. Causes susceptibility to FeLV-C in vitro.',NULL,NULL,NULL,NULL,NULL),(4633,'UniProt Function',NULL,5757,NULL,'Isoform 2: Heme transporter that promotes heme efflux from the mitochondrion to the cytoplasm. Essential for erythroid differentiation.',NULL,NULL,NULL,NULL,NULL),(4634,'UniProt Function',NULL,5758,NULL,'This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. Form I catalyzes the N-oxygenation of secondary and tertiary amines.',NULL,NULL,NULL,NULL,NULL),(4635,'UniProt Function',NULL,5759,NULL,'May be a positive regulator of adipogenesis.',NULL,NULL,NULL,NULL,NULL),(4636,'UniProt Function',NULL,5760,NULL,'Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates.',NULL,NULL,NULL,NULL,NULL),(4637,'UniProt Function',NULL,5761,NULL,'Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9 (By similarity). Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By similarity). Is a regulator of CYP19 expression (By similarity). Participates in SMAD3-dependent transcription of FST via the intronic SMAD-binding element (By similarity). Is a transcriptional repressor of STAR. Activates SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2.',NULL,NULL,NULL,NULL,NULL),(4638,'UniProt Function',NULL,5763,NULL,'Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity).',NULL,NULL,NULL,NULL,NULL),(4639,'UniProt Function',NULL,5764,NULL,'Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. May be required for epidermal adhesion.',NULL,NULL,NULL,NULL,NULL),(4640,'UniProt Function',NULL,5765,NULL,'Transcription factor involved in the regulation of the insulin signaling pathway. Binds to insulin-response elements (IREs) and can activate transcription of IGFBP1. Down-regulates expression of HIF1A and suppresses hypoxia-induced transcriptional activation of HIF1A-modulated genes. Also involved in negative regulation of the cell cycle. Involved in increased proteasome activity in embryonic stem cells (ESCs) by activating expression of PSMD11 in ESCs, leading to enhanced assembly of the 26S proteasome, followed by higher proteasome activity.',NULL,NULL,NULL,NULL,NULL),(4641,'UniProt Function',NULL,5766,NULL,'Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity).',NULL,NULL,NULL,NULL,NULL),(4642,'UniProt Function',NULL,5767,NULL,'Non-receptor tyrosine-protein kinase that negatively regulates cell proliferation. Positively regulates PTEN protein stability through phosphorylation of PTEN on \'Tyr-336\', which in turn prevents its ubiquitination and degradation, possibly by reducing its binding to NEDD4. May function as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(4643,'UniProt Function',NULL,5768,NULL,'Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754).',NULL,NULL,NULL,NULL,NULL),(4644,'UniProt Function',NULL,5770,NULL,'Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.',NULL,NULL,NULL,NULL,NULL),(4645,'UniProt Function',NULL,5772,NULL,'Actin-organizing protein that may cause stress fiber formation together with cell elongation (By similarity). Isoform 4 may play a role in actin filament polymerization in cardiomyocytes.',NULL,NULL,NULL,NULL,NULL),(4646,'UniProt Function',NULL,5774,NULL,'May be involved in wound healing pathway.',NULL,NULL,NULL,NULL,NULL),(4647,'UniProt Function',NULL,5775,NULL,'Receptor for medium and long-chain free fatty acids (FFAs). Signals via a G(q)/G(11)-coupled pathway. Acts as a receptor for omega-3 fatty acids and mediates robust anti-inflammatory effects, particularly in macrophages and fat cells. The anti-inflammatory effects involve inhibition of TAK1 through a beta-arrestin 2 (ARRB2)/TAB1-dependent effect, but independent of the G(q)/G(11)-coupled pathway. Mediates potent insulin sensitizing and antidiabetic effects by repressing macrophage-induced tissue inflammation. May mediate the taste of fatty acids. Mediates FFA-induced inhibition of apoptosis in enteroendocrine cells. May play a role in the regulation of adipocyte development and differentiation.',NULL,NULL,NULL,NULL,NULL),(4648,'UniProt Function',NULL,5776,NULL,'Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin. Fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization. Participates in the regulation of type I collagen deposition by osteoblasts.',NULL,NULL,NULL,NULL,NULL),(4649,'UniProt Function',NULL,5776,NULL,'Anastellin binds fibronectin and induces fibril formation. This fibronectin polymer, named superfibronectin, exhibits enhanced adhesive properties. Both anastellin and superfibronectin inhibit tumor growth, angiogenesis and metastasis. Anastellin activates p38 MAPK and inhibits lysophospholipid signaling.',NULL,NULL,NULL,NULL,NULL),(4650,'UniProt Function',NULL,5777,NULL,'Plays an important role in lipid droplet accumulation. Plays a role in the regulation of cell morphology and cytoskeletal organization.',NULL,NULL,NULL,NULL,NULL),(4651,'UniProt Function',NULL,5778,NULL,'Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization.',NULL,NULL,NULL,NULL,NULL),(4652,'UniProt Function',NULL,5780,NULL,'Acts as a co-chaperone of HSP90AA1. Inhibits the ATPase activity of HSP90AA1 leading to reduction in its chaperone activity. Facilitates the binding of client protein FLCN to HSP90AA1 (PubMed:27353360). May play a role in the signal transduction pathway of apoptosis induced by O6-methylguanine-mispaired lesions (By similarity). May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways (PubMed:18403135). May regulate phosphorylation of RPS6KB1 (PubMed:18663353).',NULL,NULL,NULL,NULL,NULL),(4653,'UniProt Function',NULL,5781,NULL,'Transcription regulator that plays an essential role in erythroid and megakaryocytic cell differentiation. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA1, GATA2 and GATA3. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. The heterodimer formed with GATA proteins is essential to activate expression of genes such as NFE2, ITGA2B, alpha- and beta-globin, while it represses expression of KLF1. May be involved in regulation of some genes in gonads. May also be involved in cardiac development, in a non-redundant way with ZFPM2/FOG2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4654,'UniProt Function',NULL,5782,NULL,'Transcription factor that is thought to act as a \'pioneer\' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites (By similarity). Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; binds to and activates transcription from the G6PC promoter. Binds to the CYP3A4 promoter and activates its transcription in cooperation with CEBPA. Binds to the CYP3A7 promoter together with members of the CTF/NF-I family. Involved in regulation of neuronal-specific transcription. May be involved in regulation of spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(4655,'UniProt Function',NULL,5783,NULL,'Plays a role in myoblast fusion; probable mediator of endocytic recycling for membrane trafficking events during myotube formation.',NULL,NULL,NULL,NULL,NULL),(4656,'UniProt Function',NULL,5784,NULL,'Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress. Binds to the insulin response element (IRE) with consensus sequence 5\'-TT[G/A]TTTTG-3\' and the related Daf-16 family binding element (DBE) with consensus sequence 5\'-TT[G/A]TTTAC-3\'. Activity suppressed by insulin. Main regulator of redox balance and osteoblast numbers and controls bone mass. Orchestrates the endocrine function of the skeleton in regulating glucose metabolism. Acts synergistically with ATF4 to suppress osteocalcin/BGLAP activity, increasing glucose levels and triggering glucose intolerance and insulin insensitivity. Also suppresses the transcriptional activity of RUNX2, an upstream activator of osteocalcin/BGLAP. In hepatocytes, promotes gluconeogenesis by acting together with PPARGC1A and CEBPA to activate the expression of genes such as IGFBP1, G6PC and PCK1. Important regulator of cell death acting downstream of CDK1, PKB/AKT1 and STK4/MST1. Promotes neural cell death. Mediates insulin action on adipose tissue. Regulates the expression of adipogenic genes such as PPARG during preadipocyte differentiation and, adipocyte size and adipose tissue-specific gene expression in response to excessive calorie intake. Regulates the transcriptional activity of GADD45A and repair of nitric oxide-damaged DNA in beta-cells. Required for the autophagic cell death induction in response to starvation or oxidative stress in a transcription-independent manner. Mediates the function of MLIP in cardiomyocytes hypertrophy and cardiac remodeling (By similarity).',NULL,NULL,NULL,NULL,NULL),(4657,'UniProt Function',NULL,5785,NULL,'Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (By similarity).',NULL,NULL,NULL,NULL,NULL),(4658,'UniProt Function',NULL,5789,NULL,'Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation.',NULL,NULL,NULL,NULL,NULL),(4659,'UniProt Function',NULL,5790,NULL,'Transcriptional activator.',NULL,NULL,NULL,NULL,NULL),(4660,'UniProt Function',NULL,5792,NULL,'Plays a key role in maintaining the integrity of polarized cell extensions during morphogenesis, regulates the actin cytoskeleton and plays a key role in patterning sensory neuron dendritic fields by promoting avoidance between homologous dendrites as well as by limiting dendritic branching (By similarity). May function as a transcriptional activator.',NULL,NULL,NULL,NULL,NULL),(4661,'UniProt Function',NULL,5793,NULL,'May be involved in regulation of cell migration (PubMed:22846708, PubMed:25448675). May regulate cell-matrix interactions via its interaction with ITGB5 and modifying ITGB5 cytoplasmic tail interactions such as with FERMT2 and TLN1. May regulate ROCK1 kinase activity possibly involved in regulation of actin stress fiber formation (PubMed:25448675).',NULL,NULL,NULL,NULL,NULL),(4662,'UniProt Function',NULL,5794,NULL,'Important modulator of glutamate signaling pathway.',NULL,NULL,NULL,NULL,NULL),(4663,'UniProt Function',NULL,5795,NULL,'Adapter protein that links activated FGR and NGF receptors to downstream signaling pathways. Plays an important role in the activation of MAP kinases and in the phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1. Modulates signaling via SHC1 by competing for a common binding site on NTRK1.',NULL,NULL,NULL,NULL,NULL),(4664,'UniProt Function',NULL,5796,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(4665,'UniProt Function',NULL,5797,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(4666,'UniProt Function',NULL,5798,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Role in neural transmission (By similarity).',NULL,NULL,NULL,NULL,NULL),(4667,'UniProt Function',NULL,5799,NULL,'Transfers a fucose to lacto-N-neotetraose but not to either alpha2,3-sialyl lacto-N-neotetraose or lacto-N-tetraose. Can catalyze the last step in the biosynthesis of Lewis antigen, the addition of a fucose to precursor polysaccharides.',NULL,NULL,NULL,NULL,NULL),(4668,'UniProt Function',NULL,5800,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Essential in early embryonic development to prevent apoptotic death.',NULL,NULL,NULL,NULL,NULL),(4669,'UniProt Function',NULL,5801,NULL,'Receptor for WNT2 that is coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). Plays a role in neuromuscular junction (NMJ) assembly by negatively regulating the clustering of acetylcholine receptors (AChR) through the beta-catenin canonical signaling pathway (By similarity). May play a role in neural progenitor cells (NPCs) viability through the beta-catenin canonical signaling pathway by negatively regulating cell cycle arrest leading to inhibition of neuron apoptotic process (PubMed:27509850). During hippocampal development, regulates neuroblast proliferation and apoptotic cell death. Controls bone formation through non canonical Wnt signaling mediated via ISG15. Positively regulates bone regeneration through non canonical Wnt signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(4670,'UniProt Function',NULL,5802,NULL,'Catalyzes the sulfation of membrane glycolipids. Seems to prefer beta-glycosides at the non-reducing termini of sugar chains attached to a lipid moiety. Catalyzes the synthesis of galactosylceramide sulfate (sulfatide), a major lipid component of the myelin sheath and of monogalactosylalkylacylglycerol sulfate (seminolipid), present in spermatocytes (By similarity). Also acts on lactosylceramide, galactosyl 1-alkyl-2-sn-glycerol and galactosyl diacylglycerol (in vitro).',NULL,NULL,NULL,NULL,NULL),(4671,'UniProt Function',NULL,5803,NULL,'Besides it\'s role as a glycolytic enzyme, mammalian GPI can function as a tumor-secreted cytokine and an angiogenic factor (AMF) that stimulates endothelial cell motility. GPI is also a neurotrophic factor (Neuroleukin) for spinal and sensory neurons.',NULL,NULL,NULL,NULL,NULL),(4672,'UniProt Function',NULL,5804,NULL,'Adapter protein which acts downstream of several membrane receptors including cytokine, antigen, hormone, cell matrix and growth factor receptors to regulate multiple signaling pathways. Regulates osteoclast differentiation mediating the TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell proliferation and hematopoiesis.',NULL,NULL,NULL,NULL,NULL),(4673,'UniProt Function',NULL,5805,NULL,'Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival.',NULL,NULL,NULL,NULL,NULL),(4674,'UniProt Function',NULL,5806,NULL,'Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells. Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras.',NULL,NULL,NULL,NULL,NULL),(4675,'UniProt Function',NULL,5807,NULL,'Receptor for the hormone galanin. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity.',NULL,NULL,NULL,NULL,NULL),(4676,'UniProt Function',NULL,5808,NULL,'Transcriptional activator (PubMed:19666519, PubMed:27756709, PubMed:22750565, PubMed:22824924). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778). Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity).',NULL,NULL,NULL,NULL,NULL),(4677,'UniProt Function',NULL,5810,NULL,'Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a \'pioneer\' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5\'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3\' (By similarity). In embryonic development is required for notochord formation. Involved in the development of multiple endoderm-derived organ systems such as the liver, pancreas and lungs; FOXA1 and FOXA2 seem to have at least in part redundant roles. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; regulates the expression of genes important for glucose sensing in pancreatic beta-cells and glucose homeostasis. Involved in regulation of fat metabolism. Binds to fibrinogen beta promoter and is involved in IL6-induced fibrinogen beta transcriptional activation.',NULL,NULL,NULL,NULL,NULL),(4678,'UniProt Function',NULL,5811,NULL,'Required for anchoring microtubules to the centrosomes (PubMed:16314388, PubMed:28659385). Required for ciliation (PubMed:28625565, PubMed:28659385).',NULL,NULL,NULL,NULL,NULL),(4679,'UniProt Function',NULL,5812,NULL,'Transcription factor specifically required for the formation of motile cilia. Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5\'-HWDTGTTTGTTTA-3\' or 5\'-KTTTGTTGTTKTW-3\' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung.',NULL,NULL,NULL,NULL,NULL),(4680,'UniProt Function',NULL,5814,NULL,'Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate.',NULL,NULL,NULL,NULL,NULL),(4681,'UniProt Function',NULL,5815,NULL,'May be involved in microtubule organization and stabilization.',NULL,NULL,NULL,NULL,NULL),(4682,'UniProt Function',NULL,5816,NULL,'Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1.',NULL,NULL,NULL,NULL,NULL),(4683,'UniProt Function',NULL,5818,NULL,'Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.',NULL,NULL,NULL,NULL,NULL),(4684,'UniProt Function',NULL,5819,NULL,'Acts as an activator of hypoxia-induced mitophagy, an important mechanism for mitochondrial quality control.',NULL,NULL,NULL,NULL,NULL),(4685,'UniProt Function',NULL,5821,NULL,'May catalyze alpha-1,3 glycosidic linkages involved in the expression of VIM-2, Lewis X/SSEA-1 and sialyl Lewis X antigens.',NULL,NULL,NULL,NULL,NULL),(4686,'UniProt Function',NULL,5822,NULL,'RNA-binding protein.',NULL,NULL,NULL,NULL,NULL),(4687,'UniProt Function',NULL,5823,NULL,'Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin-protein ligase complexes. The SCF(FBXL14) complex acts by mediating ubiquitination and subsequent degradation of SNAI1.',NULL,NULL,NULL,NULL,NULL),(4688,'UniProt Function',NULL,5826,NULL,'Mediates the transfer of fucose to the terminal galactose on glycan chains of cell surface glycoproteins and glycolipids (PubMed:7876235). The resulting epitope plays a role in cell-cell interaction including host-microbe interaction (PubMed:12692541, PubMed:8018146). Mediates interaction with intestinal microbiota influencing its composition (PubMed:21625510, PubMed:24733310, PubMed:22068912). Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble ABO blood group antigen synthesis pathway (PubMed:7876235).',NULL,NULL,NULL,NULL,NULL),(4689,'UniProt Function',NULL,5827,NULL,'Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. Activation by Wnt5A stimulates PKC activity via a G-protein-dependent mechanism. Involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Plays a role in controlling early axon growth and guidance processes necessary for the formation of a subset of central and peripheral major fiber tracts. Required for the development of major fiber tracts in the central nervous system, including: the anterior commissure, the corpus callosum, the thalamocortical, corticothalamic and nigrostriatal tracts, the corticospinal tract, the fasciculus retroflexus, the mammillothalamic tract, the medial lemniscus, and ascending fiber tracts from the spinal cord to the brain. In the peripheral nervous system, controls axon growth in distinct populations of cranial and spinal motor neurons, including the facial branchimotor nerve, the hypoglossal nerve, the phrenic nerve, and motor nerves innervating dorsal limbs. Involved in the migration of cranial neural crest cells. May also be implicated in the transmission of sensory information from the trunk and limbs to the brain. Controls commissural sensory axons guidance after midline crossing along the anterior-posterior axis in the developing spinal cord in a Wnt-dependent signaling pathway. Together with FZD6, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear. Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle in a beta-catenin-dependent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(4690,'UniProt Function',NULL,5828,NULL,'Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin (CTNNB1) and activation of Wnt target genes. Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP). In retina, it can be both activated by Wnt protein-binding, but also by a Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (CTNNB1) accumulation and stimulation of LEF/TCF-mediated transcriptional programs. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.',NULL,NULL,NULL,NULL,NULL),(4691,'UniProt Function',NULL,5829,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b and Muc7.',NULL,NULL,NULL,NULL,NULL),(4692,'UniProt Function',NULL,5831,NULL,'Acts as an anti-inflammatory factor in the intestine and colon. Binds to and acts on macrophages to downregulate pro-inflammatory gene expression. Affects key macrophage functions, including phagocytosis, by downregulating many key pathways for macrophage activation, partly via by STAT3 activation and signaling. May be required to dampen the immunological response in colitis.',NULL,NULL,NULL,NULL,NULL),(4693,'UniProt Function',NULL,5832,NULL,'Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA4, GATA5 and GATA6. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. Also required in gonadal differentiation, possibly be regulating expression of SRY. Probably acts a corepressor of NR2F2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4694,'UniProt Function',NULL,5833,NULL,'Transcriptional activator of MEF2C involved in the regulation pf adult muscle fiber type identity and skeletal muscle regeneration.',NULL,NULL,NULL,NULL,NULL),(4695,'UniProt Function',NULL,5834,NULL,'Binds to the consensus sequence 5\'-A[AT]T[AG]TTTGTTT-3\' and acts as a transcriptional repressor. Also acts as a transcriptional activator. Promotes development of neural crest cells from neural tube progenitors. Restricts neural progenitor cells to the neural crest lineage while suppressing interneuron differentiation. Required for maintenance of pluripotent cells in the pre-implantation and peri-implantation stages of embryogenesis.',NULL,NULL,NULL,NULL,NULL),(4696,'UniProt Function',NULL,5835,NULL,'Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release.',NULL,NULL,NULL,NULL,NULL),(4697,'UniProt Function',NULL,5836,NULL,'Transcriptional regulator which is crucial for the development and inhibitory function of regulatory T-cells (Treg). Plays an essential role in maintaining homeostasis of the immune system by allowing the acquisition of full suppressive function and stability of the Treg lineage, and by directly modulating the expansion and function of conventional T-cells. Can act either as a transcriptional repressor or a transcriptional activator depending on its interactions with other transcription factors, histone acetylases and deacetylases. The suppressive activity of Treg involves the coordinate activation of many genes, including CTLA4 and TNFRSF18 by FOXP3 along with repression of genes encoding cytokines such as interleukin-2 (IL2) and interferon-gamma (IFNG). Inhibits cytokine production and T-cell effector function by repressing the activity of two key transcription factors, RELA and NFATC2 (PubMed:15790681). Mediates transcriptional repression of IL2 via its association with histone acetylase KAT5 and histone deacetylase HDAC7 (PubMed:17360565). Can activate the expression of TNFRSF18, IL2RA and CTLA4 and repress the expression of IL2 and IFNG via its association with transcription factor RUNX1 (PubMed:17377532). Inhibits the differentiation of IL17 producing helper T-cells (Th17) by antagonizing RORC function, leading to down-regulation of IL17 expression, favoring Treg development (PubMed:18368049). Inhibits the transcriptional activator activity of RORA (PubMed:18354202). Can repress the expression of IL2 and IFNG via its association with transcription factor IKZF4 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4698,'UniProt Function',NULL,5837,NULL,'Transcriptional regulator that recognizes the core sequence 5\'-TAAACA-3\'. Binds to NFAT-like motifs (purine-rich) in the IL2 promoter (PubMed:1339390). Positively regulates WNT/beta-catenin signaling by translocating DVL proteins into the nucleus (PubMed:25805136). Also binds to HIV-1 long terminal repeat. May be involved in both positive and negative regulation of important viral and cellular promoter elements (PubMed:1909027).',NULL,NULL,NULL,NULL,NULL),(4699,'UniProt Function',NULL,5838,NULL,'Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon.',NULL,NULL,NULL,NULL,NULL),(4700,'UniProt Function',NULL,5839,NULL,'DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development (PubMed:11782474, PubMed:15299087, PubMed:15684392, PubMed:16492674, PubMed:27907090, PubMed:14506133, PubMed:14578375, PubMed:15277473, PubMed:16449236, PubMed:17210863, PubMed:19793056, PubMed:19279310, PubMed:25786029, PubMed:27804176). Acts either as a transcriptional activator or repressor (PubMed:11782474). Binds to the consensus binding site 5\'-[G/C][A/T]AAA[T/C]AA[A/C]-3\' in promoter of target genes (PubMed:7957066, PubMed:11782474, PubMed:12533514, PubMed:14506133, PubMed:19793056, PubMed:27804176). Upon DNA-binding, promotes DNA bending (PubMed:7957066, PubMed:14506133). Acts as a transcriptional coactivator (PubMed:26565916). Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By similarity). Acts also as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells (PubMed:26565916). Regulates FOXO1 through binding to a conserved element, 5\'-GTAAACAAA-3\' in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye (PubMed:17993506). Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (By similarity). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals (PubMed:12408963). Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion (PubMed:20406990, PubMed:22991501). Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation (PubMed:27907090). Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). May function as a tumor suppressor (PubMed:12408963).',NULL,NULL,NULL,NULL,NULL),(4701,'UniProt Function',NULL,5840,NULL,'Transcriptional activator. Recognizes and binds to the DNA sequence 5\'-TGT[GT][GT]ATT-3\'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element).',NULL,NULL,NULL,NULL,NULL),(4702,'UniProt Function',NULL,5843,NULL,'ATP- and magnesium-dependent helicase (PubMed:9889278). Unwinds preferentially partial DNA and RNA duplexes having a 17 bp annealed portion and either a hanging 3\' tail or hanging tails at both 5\'- and 3\'-ends (PubMed:9889278). Unwinds DNA/DNA, RNA/DNA, and RNA/RNA substrates with comparable efficiency (PubMed:9889278). Acts unidirectionally by moving in the 5\' to 3\' direction along the bound single-stranded DNA (PubMed:9889278). Phosphorylation-dependent sequence-specific endoribonuclease in vitro (PubMed:11604510). Cleaves exclusively between cytosine and adenine and cleaves MYC mRNA preferentially at the 3\'-UTR (PubMed:11604510). May be a regulated effector of stress granule assembly (PubMed:12642610, PubMed:20180778).',NULL,NULL,NULL,NULL,NULL),(4703,'UniProt Function',NULL,5844,NULL,'Adapter protein that plays a role in T-cell receptor (TCR)-mediated activation of signaling pathways. Required for T-cell activation and integrin-mediated T-cell adhesion in response to TCR stimulation (PubMed:27335501).',NULL,NULL,NULL,NULL,NULL),(4704,'UniProt Function',NULL,5845,NULL,'Non-receptor tyrosine-protein kinase that plays a role in many biological processes including regulation of cell growth and survival, cell adhesion, integrin-mediated signaling, cytoskeletal remodeling, cell motility, immune response and axon guidance. Inactive FYN is phosphorylated on its C-terminal tail within the catalytic domain. Following activation by PKA, the protein subsequently associates with PTK2/FAK1, allowing PTK2/FAK1 phosphorylation, activation and targeting to focal adhesions. Involved in the regulation of cell adhesion and motility through phosphorylation of CTNNB1 (beta-catenin) and CTNND1 (delta-catenin). Regulates cytoskeletal remodeling by phosphorylating several proteins including the actin regulator WAS and the microtubule-associated proteins MAP2 and MAPT. Promotes cell survival by phosphorylating AGAP2/PIKE-A and preventing its apoptotic cleavage. Participates in signal transduction pathways that regulate the integrity of the glomerular slit diaphragm (an essential part of the glomerular filter of the kidney) by phosphorylating several slit diaphragm components including NPHS1, KIRREL1 and TRPC6. Plays a role in neural processes by phosphorylating DPYSL2, a multifunctional adapter protein within the central nervous system, ARHGAP32, a regulator for Rho family GTPases implicated in various neural functions, and SNCA, a small pre-synaptic protein. Participates in the downstream signaling pathways that lead to T-cell differentiation and proliferation following T-cell receptor (TCR) stimulation. Phosphorylates PTK2B/PYK2 in response to T-cell receptor activation. Also participates in negative feedback regulation of TCR signaling through phosphorylation of PAG1, thereby promoting interaction between PAG1 and CSK and recruitment of CSK to lipid rafts. CSK maintains LCK and FYN in an inactive form. Promotes CD28-induced phosphorylation of VAV1.',NULL,NULL,NULL,NULL,NULL),(4705,'UniProt Function',NULL,5847,NULL,'The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(4706,'UniProt Function',NULL,5848,NULL,'Mutarotase converts alpha-aldose to the beta-anomer. It is active on D-glucose, L-arabinose, D-xylose, D-galactose, maltose and lactose (By similarity).',NULL,NULL,NULL,NULL,NULL),(4707,'UniProt Function',NULL,5849,NULL,'FABP are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters.',NULL,NULL,NULL,NULL,NULL),(4708,'UniProt Function',NULL,5850,NULL,'Component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit. Involved in apoptosis by acting as a death receptor-associated protein that mediates apoptosis. Also involved in glucose homeostasis in pancreatic islet. Functions as an adapter/mediator in replication stress-induced signaling that leads to the activation of CHEK1.',NULL,NULL,NULL,NULL,NULL),(4709,'UniProt Function',NULL,5851,NULL,'Transcriptional repressor of genes that require a bHLH protein for their transcription. Plays an important role as neurogenesis negative regulator (By similarity).',NULL,NULL,NULL,NULL,NULL),(4710,'UniProt Function',NULL,5853,NULL,'Required for the assembly of F-actin structures, such as stress fibers. Depends on the Rho-ROCK cascade for its activity. Contributes to the coordination of microtubules with actin fibers and plays a role in cell elongation. Acts synergistically with ROCK1 to promote SRC-dependent non-apoptotic plasma membrane blebbing.',NULL,NULL,NULL,NULL,NULL),(4711,'UniProt Function',NULL,5854,NULL,'Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis.',NULL,NULL,NULL,NULL,NULL),(4712,'UniProt Function',NULL,5855,NULL,'May be a tumor suppressor. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1.',NULL,NULL,NULL,NULL,NULL),(4713,'UniProt Function',NULL,5856,NULL,'Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism.',NULL,NULL,NULL,NULL,NULL),(4714,'UniProt Function',NULL,5857,NULL,'Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Required for developmental angiogenesis (By similarity). In this process, required for microtubule reorganization and for efficient endothelial cell elongation. In quiescent endothelial cells, triggers rearrangement of the actin cytoskeleton, but does not alter microtubule alignement.',NULL,NULL,NULL,NULL,NULL),(4715,'UniProt Function',NULL,5858,NULL,'Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross-linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers.',NULL,NULL,NULL,NULL,NULL),(4716,'UniProt Function',NULL,5861,NULL,'Transcriptional regulator which regulates the development, differentiation, and function of thymic epithelial cells (TECs) both in the prenatal and postnatal thymus. Acts as a master regulator of the TECs lineage development and is required from the onset of differentiation in progenitor TECs in the developing fetus to the final differentiation steps through which TECs mature to acquire their full functionality. Regulates, either directly or indirectly the expression of a variety of genes that mediate diverse aspects of thymus development and function, including MHC Class II, DLL4, CCL25, CTSL, CD40 and PAX1. Regulates the differentiation of the immature TECs into functional cortical TECs (cTECs) and medullary TECs (mTECs). Essential for maintenance of mTECs population in the postnatal thymus. Involved in the morphogenesis and maintenance of the three-dimensional thymic microstructure which is necessary for a fully functional thymus. Plays an important role in the maintenance of hematopoiesis and particularly T lineage progenitors within the bone marrow niche with age. Essential for the vascularization of the thymus anlage. Promotes the terminal differentiation of epithelial cells in the epidermis and hair follicles, partly by negatively regulating the activity of protein kinase C (By similarity). Plays a crucial role in the early prenatal stages of T-cell ontogeny (PubMed:21507891).',NULL,NULL,NULL,NULL,NULL),(4717,'UniProt Function',NULL,5862,NULL,'May modulate the action of some growth factors on cell proliferation and differentiation. Binds heparin (By similarity).',NULL,NULL,NULL,NULL,NULL),(4718,'UniProt Function',NULL,5863,NULL,'Isoform 1 or the secreted form is a binding and antagonizing protein for members of the TGF-beta family, such us activin, BMP2 and MSTN. Inhibits activin A-, activin B-, BMP2- and MSDT-induced cellular signaling; more effective on activin A than on activin B. Involved in bone formation; inhibits osteoclast differentiationc. Involved in hematopoiesis; involved in differentiation of hemopoietic progenitor cells, increases hematopoietic cell adhesion to fibronectin and seems to contribute to the adhesion of hematopoietic precursor cells to the bone marrow stroma. Isoform 2 or the nuclear form is probably involved in transcriptional regulation via interaction with MLLT10.',NULL,NULL,NULL,NULL,NULL),(4719,'UniProt Function',NULL,5864,NULL,'May be involved in the later stages of fibrous sheath biogenesis and spermatozoa capacitation. Inhibits ROPN1 and ROPN1L SUMOylation. Binds calcium.',NULL,NULL,NULL,NULL,NULL),(4720,'UniProt Function',NULL,5865,NULL,'Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer.',NULL,NULL,NULL,NULL,NULL),(4721,'UniProt Function',NULL,5866,NULL,'Transcriptional repressor (PubMed:18347093, PubMed:26647308). Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential (By similarity). Plays an important role in the specification and differentiation of lung epithelium. Acts cooperatively with FOXP4 to regulate lung secretory epithelial cell fate and regeneration by restricting the goblet cell lineage program; the function may involve regulation of AGR2. Essential transcriptional regulator of B-cell development. Involved in regulation of cardiac muscle cell proliferation. Involved in the columnar organization of spinal motor neurons. Promotes the formation of the lateral motor neuron column (LMC) and the preganglionic motor column (PGC) and is required for respective appropriate motor axon projections. The segment-appropriate generation of spinal chord motor columns requires cooperation with other Hox proteins. Can regulate PITX3 promoter activity; may promote midbrain identity in embryonic stem cell-derived dopamine neurons by regulating PITX3. Negatively regulates the differentiation of T follicular helper cells T(FH)s. Involved in maintenance of hair follicle stem cell quiescence; the function probably involves regulation of FGF18 (By similarity). Represses transcription of various pro-apoptotic genes and cooperates with NF-kappa B-signaling in promoting B-cell expansion by inhibition of caspase-dependent apoptosis (PubMed:25267198). Binds to CSF1R promoter elements and is involved in regulation of monocyte differentiation and macrophage functions; repression of CSF1R in monocytes seems to involve NCOR2 as corepressor (PubMed:15286807, PubMed:18799727, PubMed:18347093). Involved in endothelial cell proliferation, tube formation and migration indicative for a role in angiogenesis; the role in neovascularization seems to implicate suppression of SEMA5B (PubMed:24023716). Can negatively regulate androgen receptor signaling (PubMed:18640093).',NULL,NULL,NULL,NULL,NULL),(4722,'UniProt Function',NULL,5866,NULL,'Isoform 8: Involved in transcriptional regulation in embryonic stem cells (ESCs). Stimulates expression of transcription factors that are required for pluripotency and decreases expression of differentiation-associated genes. Has distinct DNA-binding specifities as compared to the canonical form and preferentially binds DNA with the sequence 5\'-CGATACAA-3\' (or closely related sequences) (PubMed:21924763). Promotes ESC self-renewal and pluripotency (By similarity).',NULL,NULL,NULL,NULL,NULL),(4723,'UniProt Function',NULL,5867,NULL,'Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a \'pioneer\' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5\'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3\' (By similarity). Proposed to play a role in translating the epigenetic signatures into cell type-specific enhancer-driven transcriptional programs. Its differential recruitment to chromatin is dependent on distribution of histone H3 methylated at \'Lys-5\' (H3K4me2) in estrogen-regulated genes. Involved in the development of multiple endoderm-derived organ systems such as liver, pancreas, lung and prostate; FOXA1 and FOXA2 seem to have at least in part redundant roles (By similarity). Modulates the transcriptional activity of nuclear hormone receptors. Is involved in ESR1-mediated transcription; required for ESR1 binding to the NKX2-1 promoter in breast cancer cells; binds to the RPRM promoter and is required for the estrogen-induced repression of RPRM. Involved in regulation of apoptosis by inhibiting the expression of BCL2. Involved in cell cycle regulation by activating expression of CDKN1B, alone or in conjunction with BRCA1. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis.',NULL,NULL,NULL,NULL,NULL),(4724,'UniProt Function',NULL,5868,NULL,'Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle (PubMed:22527307, PubMed:25504734). During lens development, controls the ratio of the lens fiber cells to the cells of the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity). Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity). Controls the expression of DNAJB1 in a pathway that is crucial for the development of the anterior segment of the eye (PubMed:27218149).',NULL,NULL,NULL,NULL,NULL),(4725,'UniProt Function',NULL,5869,NULL,'Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. Required for normal embryonic development and normal cell proliferation.',NULL,NULL,NULL,NULL,NULL),(4726,'UniProt Function',NULL,5870,NULL,'Probable transcription activator for a number of lung-specific genes.',NULL,NULL,NULL,NULL,NULL),(4727,'UniProt Function',NULL,5871,NULL,'Inhibits the binding of prostaglandin F2-alpha (PGF2-alpha) to its specific FP receptor, by decreasing the receptor number rather than the affinity constant. Functional coupling with the prostaglandin F2-alpha receptor seems to occur (By similarity).',NULL,NULL,NULL,NULL,NULL),(4728,'UniProt Function',NULL,5872,NULL,'Acts as a transcriptional repressor. May be involved in DNA damage-inducible cell cycle arrests (checkpoints).',NULL,NULL,NULL,NULL,NULL),(4729,'UniProt Function',NULL,5873,NULL,'High affinity receptor for N-formyl-methionyl peptides (fMLP), which are powerful neutrophil chemotactic factors (PubMed:2161213, PubMed:2176894, PubMed:10514456, PubMed:15153520). Binding of fMLP to the receptor stimulates intracellular calcium mobilization and superoxide anion release (PubMed:2161213, PubMed:1712023, PubMed:15153520). This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:1712023, PubMed:10514456).',NULL,NULL,NULL,NULL,NULL),(4730,'UniProt Function',NULL,5874,NULL,'Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development.',NULL,NULL,NULL,NULL,NULL),(4731,'UniProt Function',NULL,5876,NULL,'Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.',NULL,NULL,NULL,NULL,NULL),(4732,'UniProt Function',NULL,5877,NULL,'Member of GRP1 signaling complexes that are acutely recruited to plasma membrane ruffles in response to insulin receptor signaling. May function as a scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex. Plays a redundant role with FRMD4A in epithelial polarization.',NULL,NULL,NULL,NULL,NULL),(4733,'UniProt Function',NULL,5878,NULL,'May catalyze alpha-1,3 and alpha-1,4 glycosidic linkages involved in the expression of Vim-2, Lewis A, Lewis B, sialyl Lewis X and Lewis X/SSEA-1 antigens. May be involved in blood group Lewis determination; Lewis-positive (Le(+)) individuals have an active enzyme while Lewis-negative (Le(-)) individuals have an inactive enzyme. Also acts on the corresponding 1,4-galactosyl derivative, forming 1,3-L-fucosyl links.',NULL,NULL,NULL,NULL,NULL),(4734,'UniProt Function',NULL,5879,NULL,'Receptor for Wnt proteins (PubMed:10557084). Activated by WNT3A, WNT3, WNT1 and to a lesser extent WNT2, but apparently not by WNT4, WNT5A, WNT5B, WNT6, WNT7A or WNT7B (PubMed:10557084). Contradictory results showing activation by WNT7B have been described for mouse (By similarity). Functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:10557084). The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (PubMed:10557084). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable).',NULL,NULL,NULL,NULL,NULL),(4735,'UniProt Function',NULL,5880,NULL,'Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell (PubMed:17077088). Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1 (PubMed:21454534). Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes (PubMed:7836447).',NULL,NULL,NULL,NULL,NULL),(4736,'UniProt Function',NULL,5880,NULL,'Isoform 1: Decreases the apparent K+ and Na+ affinity of the sodium/potassium-transporting ATPase over a large range of membrane potentials.',NULL,NULL,NULL,NULL,NULL),(4737,'UniProt Function',NULL,5880,NULL,'Isoform 2: Decreases the apparent K+ affinity of the sodium/potassium-transporting ATPase only at slightly negative and positive membrane potentials and increases the apparent Na+ affinity over a large range of membrane potentials.',NULL,NULL,NULL,NULL,NULL),(4738,'UniProt Function',NULL,5882,NULL,'Transfers a sulfate to position 3 of non-reducing beta-galactosyl residues in N-glycans and core2-branched O-glycans. Has high activity towards Gal-beta-1,4-GlcNAc, Gal-beta-1,4(Fuc-alpha-1,3)GlcNAc and lower activity towards Gal-beta-1,3(Fuc-alpha-1,4)GlcNAc.',NULL,NULL,NULL,NULL,NULL),(4739,'UniProt Function',NULL,5883,NULL,'In T-cells, functions as a regulator of p38 MAPKs by inhibiting p88 phosphorylation and activity (By similarity). Might affect PCNA interaction with some CDK (cell division protein kinase) complexes; stimulates DNA excision repair in vitro and inhibits entry of cells into S phase.',NULL,NULL,NULL,NULL,NULL),(4740,'UniProt Function',NULL,5884,NULL,'Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene.',NULL,NULL,NULL,NULL,NULL),(4741,'UniProt Function',NULL,5886,NULL,'Cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to stress (PubMed:15671067, PubMed:27206504, PubMed:23398049). In response to mechanical stress like wound healing, is associated with the machinery for cellular motility by slowing down keratinocyte migration and proliferation and accelerating keratin bundling in proliferating keratinocytes thus contributing to tissue architecture (PubMed:27206504, PubMed:23398049). However in wound healing in corneal epithelium also positively regulates cell differentiation and proliferation and negatively regulates migration thereby controlling corneal epithelium morphogenesis and integrity. In response to cellular stress, plays a role in keratin filament reorganization, probably by protecting keratin filaments against disruption. During liver and pancreas injuries, plays a protective role by chaperoning disease-induced intermediate filament reorganization (By similarity).',NULL,NULL,NULL,NULL,NULL),(4742,'UniProt Function',NULL,5887,NULL,'Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(4743,'UniProt Function',NULL,5888,NULL,'Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.',NULL,NULL,NULL,NULL,NULL),(4744,'UniProt Function',NULL,5889,NULL,'Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 is a cognate/functional ligand for EPHA7 and their interaction regulates brain development modulating cell-cell adhesion and repulsion. Has a repellent activity on axons and is for instance involved in the guidance of corticothalamic axons and in the proper topographic mapping of retinal axons to the colliculus. May also regulate brain development through a caspase(CASP3)-dependent proapoptotic activity. Forward signaling may result in activation of components of the ERK signaling pathway including MAP2K1, MAP2K2, MAPK1 AND MAPK3 which are phosphorylated upon activation of EPHA7.',NULL,NULL,NULL,NULL,NULL),(4745,'UniProt Function',NULL,5890,NULL,'May play a role in transcription or DNA repair.',NULL,NULL,NULL,NULL,NULL),(4746,'UniProt Function',NULL,5891,NULL,'Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Functions in axon guidance during development. Involved in the guidance of commissural axons, that form a major interhemispheric connection between the 2 temporal lobes of the cerebral cortex. Also involved in guidance of contralateral inner ear efferent growth cones at the midline and of retinal ganglion cell axons to the optic disk. In addition to axon guidance, also regulates dendritic spines development and maturation and stimulates the formation of excitatory synapses. Upon activation by EFNB1, abolishes the ARHGEF15-mediated negative regulation on excitatory synapse formation. Controls other aspects of development including angiogenesis, palate development and in inner ear development through regulation of endolymph production. Forward and reverse signaling through the EFNB2/EPHB2 complex regulate movement and adhesion of cells that tubularize the urethra and septate the cloaca. May function as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(4747,'UniProt Function',NULL,5892,NULL,'Catalyzes phosphatidylethanolamine biosynthesis from CDP-ethanolamine. It thereby plays a central role in the formation and maintenance of vesicular membranes. Involved in the formation of phosphatidylethanolamine via \'Kennedy\' pathway.',NULL,NULL,NULL,NULL,NULL),(4748,'UniProt Function',NULL,5893,NULL,'Small GTPase required for proper nuclear import of RNA polymerase II (RNAPII) (PubMed:20855544, PubMed:21768307). May act at an RNAP assembly step prior to nuclear import (PubMed:21768307). Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding proteins, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation (PubMed:17643375). May be involved in nuclear localization of XPA (PubMed:11058119).',NULL,NULL,NULL,NULL,NULL),(4749,'UniProt Function',NULL,5895,NULL,'Positively stimulates PRMT1-induced protein arginine dimethylated arginine methylation (PubMed:28040436). Promotes colorectal cancer cell malignancy (PubMed:28040436).',NULL,NULL,NULL,NULL,NULL),(4750,'UniProt Function',NULL,5896,NULL,'Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage.',NULL,NULL,NULL,NULL,NULL),(4751,'UniProt Function',NULL,5897,NULL,'Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.',NULL,NULL,NULL,NULL,NULL),(4752,'UniProt Function',NULL,5898,NULL,'Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a lipid-binding activity with a preference for membranes enriched in phosphatidylserine and phosphoinositides (Pi(4,5) biphosphate) like the plasma membrane. Its membrane-bending activity might be important for the subsequent action of clathrin and adaptors in the formation of clathrin-coated vesicles. Involved in adaptor protein complex AP-2-dependent endocytosis of the transferrin receptor, it also functions in the AP-2-independent endocytosis of the LDL receptor.',NULL,NULL,NULL,NULL,NULL),(4753,'UniProt Function',NULL,5899,NULL,'Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:10428823). May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).',NULL,NULL,NULL,NULL,NULL),(4754,'UniProt Function',NULL,5900,NULL,'Essential protein involved in pre-rRNA processing and 40S ribosomal subunit assembly.',NULL,NULL,NULL,NULL,NULL),(4755,'UniProt Function',NULL,5901,NULL,'Catalyzes the two-step NADP-dependent conversion of GDP-4-dehydro-6-deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction.',NULL,NULL,NULL,NULL,NULL),(4756,'UniProt Function',NULL,5902,NULL,'Probably involved in nervous system development and function.',NULL,NULL,NULL,NULL,NULL),(4757,'UniProt Function',NULL,5904,NULL,'Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development.',NULL,NULL,NULL,NULL,NULL),(4758,'UniProt Function',NULL,5905,NULL,'Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development.',NULL,NULL,NULL,NULL,NULL),(4759,'UniProt Function',NULL,5906,NULL,'Microtubule-associated formin which regulates both actin and microtubule dynamics. Induces microtubule acetylation and stabilization and actin stress fiber formation (PubMed:18815276). Regulates Golgi ribbon formation (PubMed:26564798). Required for normal cilia assembly. Early in cilia assembly, may assist in the maturation and positioning of the centrosome/basal body, and once cilia assembly has initiated, may also promote cilia elongation by inhibiting disassembly (PubMed:29742020).',NULL,NULL,NULL,NULL,NULL),(4760,'UniProt Function',NULL,5908,NULL,'Fatty acid synthetase catalyzes the formation of long-chain fatty acids from acetyl-CoA, malonyl-CoA and NADPH. This multifunctional protein has 7 catalytic activities as an acyl carrier protein.',NULL,NULL,NULL,NULL,NULL),(4761,'UniProt Function',NULL,5909,NULL,'S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2\'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Also acts as a protein methyltransferase by mediating methylation of glutamine residues (By similarity).',NULL,NULL,NULL,NULL,NULL),(4762,'UniProt Function',NULL,5910,NULL,'Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. May regulate Bmp signaling by regulating clathrin-mediated endocytosis of Bmp receptors.',NULL,NULL,NULL,NULL,NULL),(4763,'UniProt Function',NULL,5911,NULL,'Promotes cell proliferation.',NULL,NULL,NULL,NULL,NULL),(4764,'UniProt Function',NULL,5912,NULL,'Plays an important role in the regulation of cell proliferation and cell differentiation. Required for normal regulation of the hair growth cycle. Functions as an inhibitor of hair elongation by promoting progression from anagen, the growth phase of the hair follicle, into catagen the apoptosis-induced regression phase (By similarity).',NULL,NULL,NULL,NULL,NULL),(4765,'UniProt Function',NULL,5913,NULL,'Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration.',NULL,NULL,NULL,NULL,NULL),(4766,'UniProt Function',NULL,5914,NULL,'Transcriptional repressor of genes that require a bHLH protein for their transcription.',NULL,NULL,NULL,NULL,NULL),(4767,'UniProt Function',NULL,5915,NULL,'Might be involved in complement regulation.',NULL,NULL,NULL,NULL,NULL),(4768,'UniProt Function',NULL,5916,NULL,'Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation (By similarity).',NULL,NULL,NULL,NULL,NULL),(4769,'UniProt Function',NULL,5917,NULL,'Transcription repressor. Required for the specification of corticospinal motor neurons and other subcerebral projection neurons. May play a role in layer and neuronal subtype-specific patterning of subcortical projections and axonal fasciculation. Controls the development of dendritic arborization and spines of large layer V pyramidal neurons. May be involved in innate immunity (By similarity).',NULL,NULL,NULL,NULL,NULL),(4770,'UniProt Function',NULL,5918,NULL,'G-protein coupled receptor for medium and long chain saturated and unsaturated fatty acids that plays an important role in glucose homeostasis. Fatty acid binding increases glucose-stimulated insulin secretion, and may also enhance the secretion of glucagon-like peptide 1 (GLP-1). May also play a role in bone homeostasis; receptor signaling activates pathways that inhibit osteoclast differentiation (By similarity). Ligand binding leads to a conformation change that triggers signaling via G-proteins that activate phospholipase C, leading to an increase of the intracellular calcium concentration. Seems to act through a G(q) and G(i)-mediated pathway.',NULL,NULL,NULL,NULL,NULL),(4771,'UniProt Function',NULL,5919,NULL,'Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the antibacterial immune response via both innate and T-cell mediated pathways.',NULL,NULL,NULL,NULL,NULL),(4772,'UniProt Function',NULL,5920,NULL,'May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo (By similarity).',NULL,NULL,NULL,NULL,NULL),(4773,'UniProt Function',NULL,5921,NULL,'May play a role in physiologic lymphocyte functions at mucosal sites.',NULL,NULL,NULL,NULL,NULL),(4774,'UniProt Function',NULL,5922,NULL,'Plays a role in the fasting response, glucose homeostasis, lipolysis and lipogenesis. Can stimulate cell proliferation (in vitro). May be involved in hair development.',NULL,NULL,NULL,NULL,NULL),(4775,'UniProt Function',NULL,5923,NULL,'Involved in the fragmentation of the mitochondrial network and its perinuclear clustering. Plays a minor role in the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface and mitochondrial fission. Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis. Also mediates peroxisomal fission.',NULL,NULL,NULL,NULL,NULL),(4776,'UniProt Function',NULL,5924,NULL,'FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding of proteins.',NULL,NULL,NULL,NULL,NULL),(4777,'UniProt Function',NULL,5925,NULL,'PPIases accelerate the folding of proteins during protein synthesis.',NULL,NULL,NULL,NULL,NULL),(4778,'UniProt Function',NULL,5926,NULL,'Catalyzes the transfer of CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable).',NULL,NULL,NULL,NULL,NULL),(4779,'UniProt Function',NULL,5927,NULL,'May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21.',NULL,NULL,NULL,NULL,NULL),(4780,'UniProt Function',NULL,5929,NULL,'Functions in cell-cell adhesion, cell migration and axon guidance. Mediates cell-cell adhesion via its interactions with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells. May play a role in the migration of cortical neurons during brain development via its interaction with UNC5D. Mediates axon growth cone collapse and plays a repulsive role in neuron guidance via its interaction with UNC5D, and possibly also other UNC-5 family members. Plays a role in fibroblast growth factor-mediated signaling cascades. Required for normal organization of the cardiac basement membrane during embryogenesis, and for normal embryonic epicardium and heart morphogenesis.',NULL,NULL,NULL,NULL,NULL),(4781,'UniProt Function',NULL,5931,NULL,'It is probable that this protein is only produced in very small quantity or not at all as the gene coding for it seems to be unable to produce full-length transcripts.',NULL,NULL,NULL,NULL,NULL),(4782,'UniProt Function',NULL,5932,NULL,'Has both folate hydrolase and N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity.',NULL,NULL,NULL,NULL,NULL),(4783,'UniProt Function',NULL,5932,NULL,'Exhibits a dipeptidyl-peptidase IV type activity.',NULL,NULL,NULL,NULL,NULL),(4784,'UniProt Function',NULL,5933,NULL,'Controls osteoclast survival and size. As a dimer with JUN, activates LIF transcription. Activates CEBPB transcription in PGE2-activated osteoblasts.',NULL,NULL,NULL,NULL,NULL),(4785,'UniProt Function',NULL,5934,NULL,'Plays a role in hair follicle differentiation.',NULL,NULL,NULL,NULL,NULL),(4786,'UniProt Function',NULL,5935,NULL,'Transcriptional factor regulating the expression of cell cycle genes essential for DNA replication and mitosis. Plays a role in the control of cell proliferation. Plays also a role in DNA breaks repair participating in the DNA damage checkpoint response.',NULL,NULL,NULL,NULL,NULL),(4787,'UniProt Function',NULL,5936,NULL,'Transcriptional activator. Might be involved in the formation of special mesenchymal tissues.',NULL,NULL,NULL,NULL,NULL),(4788,'UniProt Function',NULL,5937,NULL,'Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed.',NULL,NULL,NULL,NULL,NULL),(4789,'UniProt Function',NULL,5938,NULL,'Facilitative glucose transporter.',NULL,NULL,NULL,NULL,NULL),(4790,'UniProt Function',NULL,5939,NULL,'Facilitative glucose transporter.',NULL,NULL,NULL,NULL,NULL),(4791,'UniProt Function',NULL,5940,NULL,'Transport urate and fructose. May have a role in the urate reabsorption by proximal tubules. Also transports glucose at low rate.',NULL,NULL,NULL,NULL,NULL),(4792,'UniProt Function',NULL,5942,NULL,'Facilitative glucose transporter that can also mediate the uptake of various other monosaccharides across the cell membrane (PubMed:9477959, PubMed:26176916). Mediates the uptake of glucose, 2-deoxyglucose, galactose, mannose, xylose and fucose, and probably also dehydroascorbate (PubMed:9477959, PubMed:26176916). Does not mediate fructose transport (PubMed:9477959, PubMed:26176916).',NULL,NULL,NULL,NULL,NULL),(4793,'UniProt Function',NULL,5943,NULL,'Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity).',NULL,NULL,NULL,NULL,NULL),(4794,'UniProt Function',NULL,5944,NULL,'Ion channel that contributes to passive transmembrane potassium transport and to the regulation of the resting membrane potential in brain astrocytes, but also in kidney and in other tissues (PubMed:15820677, PubMed:21653227). Forms dimeric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel is selective for K(+) ions at physiological potassium concentrations and at neutral pH, but becomes permeable to Na(+) at subphysiological K(+) levels and upon acidification of the extracellular medium (PubMed:21653227, PubMed:22431633). The homodimer has very low potassium channel activity, when expressed in heterologous systems, and can function as weakly inward rectifying potassium channel (PubMed:8605869, PubMed:8978667, PubMed:15820677, PubMed:21653227, PubMed:22431633, PubMed:23169818, PubMed:25001086). Channel activity is modulated by activation of serotonin receptors (By similarity). Heterodimeric channels containing KCNK1 and KCNK2 have much higher activity, and may represent the predominant form in astrocytes (By similarity). Heterodimeric channels containing KCNK1 and KCNK3 or KCNK9 have much higher activity (PubMed:23169818). Heterodimeric channels formed by KCNK1 and KCNK9 may contribute to halothane-sensitive currents (PubMed:23169818). Mediates outward rectifying potassium currents in dentate gyrus granule cells and contributes to the regulation of their resting membrane potential (By similarity). Contributes to the regulation of action potential firing in dentate gyrus granule cells and down-regulates their intrinsic excitability (By similarity). In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled receptors, such as F2R and CNR1 (By similarity). Required for normal ion and water transport in the kidney (By similarity). Contributes to the regulation of the resting membrane potential of pancreatic beta cells (By similarity). The low channel activity of homodimeric KCNK1 may be due to sumoylation (PubMed:15820677, PubMed:20498050, PubMed:23169818). The low channel activity may be due to rapid internalization from the cell membrane and retention in recycling endosomes (PubMed:19959478).',NULL,NULL,NULL,NULL,NULL),(4795,'UniProt Function',NULL,5945,NULL,'Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents.',NULL,NULL,NULL,NULL,NULL),(4796,'UniProt Function',NULL,5946,NULL,'May function as an adapter protein. Required for efficient phagocytosis of apoptotic cells. Modulates cellular glycosphingolipid and cholesterol transport. May play a role in the internalization and endosomal trafficking of various LRP1 ligands, such as PSAP. Increases cellular levels of GTP-bound ARF6.',NULL,NULL,NULL,NULL,NULL),(4797,'UniProt Function',NULL,5947,NULL,'May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent.',NULL,NULL,NULL,NULL,NULL),(4798,'UniProt Function',NULL,5948,NULL,'Accessory subunit of potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 (HCN3) upregulating its cell-surface expression and current density without affecting its voltage dependence and kinetics.',NULL,NULL,NULL,NULL,NULL),(4799,'UniProt Function',NULL,5950,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of target proteins, leading to their degradation by the proteasome.',NULL,NULL,NULL,NULL,NULL),(4800,'UniProt Function',NULL,5951,NULL,'Testis-specific histone H1 that forms less compacted chromatin compared to other H1 histone subtypes (PubMed:26757249). Formation of more relaxed chromatin may be required to promote chromatin architecture required for proper chromosome regulation during meiosis, such as homologous recombination (PubMed:26757249). Histones H1 act as linkers that bind to nucleosomes and compact polynucleosomes into a higher-order chromatin configuration (Probable).',NULL,NULL,NULL,NULL,NULL),(4801,'UniProt Function',NULL,5952,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination of several tyrosine-phosphorylated Src substrates, including CDH1, CTTN and DOK1 (By similarity). Targets CDH1 for endocytosis and degradation (By similarity). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Its function in the WMM complex is unknown (PubMed:29507755).',NULL,NULL,NULL,NULL,NULL),(4802,'UniProt Function',NULL,5953,NULL,'Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins.',NULL,NULL,NULL,NULL,NULL),(4803,'UniProt Function',NULL,5954,NULL,'Serine/threonine-protein kinase that phosphorylates histone H3 at \'Thr-3\' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle.',NULL,NULL,NULL,NULL,NULL),(4804,'UniProt Function',NULL,5955,NULL,'Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on 2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2-hydroxy octanoate.',NULL,NULL,NULL,NULL,NULL),(4805,'UniProt Function',NULL,5956,NULL,'Catalyzes the ferrous insertion into protoporphyrin IX.',NULL,NULL,NULL,NULL,NULL),(4806,'UniProt Function',NULL,5957,NULL,'Activates hepatocyte growth factor (HGF) by converting it from a single chain to a heterodimeric form.',NULL,NULL,NULL,NULL,NULL),(4807,'UniProt Function',NULL,5958,NULL,'Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis.',NULL,NULL,NULL,NULL,NULL),(4808,'UniProt Function',NULL,5960,NULL,'Increases intracellular lipid accumulation. Stimulates expression of cytokines including IL6, MIF and VEGFA. Enhances cell growth and proliferation.',NULL,NULL,NULL,NULL,NULL),(4809,'UniProt Function',NULL,5961,NULL,'This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.',NULL,NULL,NULL,NULL,NULL),(4810,'UniProt Function',NULL,5963,NULL,'Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products of which support energy production in nonhepatic animal tissues.',NULL,NULL,NULL,NULL,NULL),(4811,'UniProt Function',NULL,5964,NULL,'Preferentially binds to euchromatin and modulates cellular transcription by counteracting linker histone-mediated chromatin compaction.',NULL,NULL,NULL,NULL,NULL),(4812,'UniProt Function',NULL,5965,NULL,'Negatively regulates Wnt/beta-catenin signaling during development.',NULL,NULL,NULL,NULL,NULL),(4813,'UniProt Function',NULL,5966,NULL,'Antigen-presenting molecule specialized in presenting microbial vitamin B metabolites. Involved in the development and expansion of a small population of T-cells expressing an invariant T-cell receptor alpha chain called mucosal-associated invariant T-cells (MAIT). MAIT lymphocytes are preferentially located in the gut lamina propria and therefore may be involved in monitoring commensal flora or serve as a distress signal. Expression and MAIT cell recognition seem to be ligand-dependent.',NULL,NULL,NULL,NULL,NULL),(4814,'UniProt Function',NULL,5967,NULL,'Contains a GTPase activator for the Rho-type GTPases (RhoGAP) domain that would be able to negatively regulate the actin cytoskeleton as well as cell spreading. However, also contains N-terminally a BAR-domin which is able to play an autoinhibitory effect on this RhoGAP activity.',NULL,NULL,NULL,NULL,NULL),(4815,'UniProt Function',NULL,5967,NULL,'Precursor of the histocompatibility antigen HA-1. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. Specifically, mismatching for mHag HA-1 which is recognized as immunodominant, is shown to be associated with the development of severe GVHD after HLA-identical BMT. HA-1 is presented to the cell surface by MHC class I HLA-A*0201, but also by other HLA-A alleles. This complex specifically elicits donor-cytotoxic T-lymphocyte (CTL) reactivity against hematologic malignancies after treatment by HLA-identical allogenic BMT. It induces cell recognition and lysis by CTL.',NULL,NULL,NULL,NULL,NULL),(4816,'UniProt Function',NULL,5968,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(4817,'UniProt Function',NULL,5969,NULL,'Inactivates histamine by N-methylation. Plays an important role in degrading histamine and in regulating the airway response to histamine.',NULL,NULL,NULL,NULL,NULL),(4818,'UniProt Function',NULL,5970,NULL,'May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs.',NULL,NULL,NULL,NULL,NULL),(4819,'UniProt Function',NULL,5972,NULL,'Splicing factor binding to exonic or intronic sites and acting as either an activator or repressor of exon inclusion. Exhibits a binding preference for CA-rich elements (PubMed:11809897, PubMed:22570490, PubMed:24164894, PubMed:25623890, PubMed:26051023). Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes and associated with most nascent transcripts (PubMed:2687284). Associates, together with APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter (PubMed:11809897).',NULL,NULL,NULL,NULL,NULL),(4820,'UniProt Function',NULL,5973,NULL,'Mediates a firm binding of versican V2 to hyaluronic acid. May play a pivotal role in the formation of the hyaluronan-associated matrix in the central nervous system (CNS) which facilitates neuronal conduction and general structural stabilization. Binds to hyaluronic acid (By similarity).',NULL,NULL,NULL,NULL,NULL),(4821,'UniProt Function',NULL,5974,NULL,'As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine. Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent kidney damage. Haptoglobin also acts as an antioxidant, has antibacterial activity, and plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidly cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal degradation pathway.',NULL,NULL,NULL,NULL,NULL),(4822,'UniProt Function',NULL,5974,NULL,'The uncleaved form of allele alpha-2 (2-2), known as zonulin, plays a role in intestinal permeability, allowing intercellular tight junction disassembly, and controlling the equilibrium between tolerance and immunity to non-self antigens.',NULL,NULL,NULL,NULL,NULL),(4823,'UniProt Function',NULL,5975,NULL,'Endoglycosidase that cleaves heparan sulfate proteoglycans (HSPGs) into heparan sulfate side chains and core proteoglycans. Participates in extracellular matrix (ECM) degradation and remodeling. Selectively cleaves the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying either a 3-O-sulfo or a 6-O-sulfo group. Can also cleave the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying a 2-O-sulfo group, but not linkages between a glucuronic acid unit and a 2-O-sulfated iduronic acid moiety. It is essentially inactive at neutral pH but becomes active under acidic conditions such as during tumor invasion and in inflammatory processes. Facilitates cell migration associated with metastasis, wound healing and inflammation. Enhances shedding of syndecans, and increases endothelial invasion and angiogenesis in myelomas. Acts as procoagulant by increasing the generation of activation factor X in the presence of tissue factor and activation factor VII. Increases cell adhesion to the extracellular matrix (ECM), independent of its enzymatic activity. Induces AKT1/PKB phosphorylation via lipid rafts increasing cell mobility and invasion. Heparin increases this AKT1/PKB activation. Regulates osteogenesis. Enhances angiogenesis through up-regulation of SRC-mediated activation of VEGF. Implicated in hair follicle inner root sheath differentiation and hair homeostasis.',NULL,NULL,NULL,NULL,NULL),(4824,'UniProt Function',NULL,5976,NULL,'Catalyzes the transfer of sulfate to the C2-position of selected hexuronic acid residues within the maturing heparan sulfate (HS). 2-O-sulfation within HS, particularly of iduronate residues, is essential for HS to participate in a variety of high-affinity ligand-binding interactions and signaling processes. Mediates 2-O-sulfation of both L-iduronyl and D-glucuronyl residues (By similarity).',NULL,NULL,NULL,NULL,NULL),(4825,'UniProt Function',NULL,5977,NULL,'Negative regulator of the heat shock response. Negatively affects HSF1 DNA-binding activity. May have a role in the suppression of the activation of the stress response during the aging process.',NULL,NULL,NULL,NULL,NULL),(4826,'UniProt Function',NULL,5978,NULL,'Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins.',NULL,NULL,NULL,NULL,NULL),(4827,'UniProt Function',NULL,5979,NULL,'Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex.',NULL,NULL,NULL,NULL,NULL),(4828,'UniProt Function',NULL,5981,NULL,'Mitochondrial 3-hydroxyacyl-thioester dehydratase, which may be involved in fatty acid biosynthesis.',NULL,NULL,NULL,NULL,NULL),(4829,'UniProt Function',NULL,5983,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4830,'UniProt Function',NULL,5984,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(4831,'UniProt Function',NULL,5985,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4832,'UniProt Function',NULL,5986,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures.',NULL,NULL,NULL,NULL,NULL),(4833,'UniProt Function',NULL,5987,NULL,'Endo-hyaluronidase that degrades hyaluronan to smaller oligosaccharide fragments. Has also chondroitin sulfate hydrolase activity, The best substrate being the galactosaminidic linkage in the sequence of a trisulfated tetrasaccharide.',NULL,NULL,NULL,NULL,NULL),(4834,'UniProt Function',NULL,5988,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(4835,'UniProt Function',NULL,5989,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Catalyzes isomerization reactions that contribute to the biosynthesis of steroid hormones. Efficiently catalyze obligatory double-bond isomerizations of delta(5)-androstene-3,17-dione and delta(5)-pregnene-3,20-dione, precursors to testosterone and progesterone, respectively.',NULL,NULL,NULL,NULL,NULL),(4836,'UniProt Function',NULL,5991,NULL,'Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen (PubMed:19075007, PubMed:22216269, PubMed:27402836). By acting on collagen glycosylation, facilitates the formation of collagen triple helix (PubMed:27402836).',NULL,NULL,NULL,NULL,NULL),(4837,'UniProt Function',NULL,5992,NULL,'Probable cell adhesion protein involved in leukocyte transmigration across the blood-brain barrier. Does not express any beta-galactosyltransferase activity in vitro.',NULL,NULL,NULL,NULL,NULL),(4838,'UniProt Function',NULL,5993,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Regulates negatively CDK5 activity via p25/p35 translocation to prevent neurodegeneration.',NULL,NULL,NULL,NULL,NULL),(4839,'UniProt Function',NULL,5995,NULL,'Insulin-regulated facilitative glucose transporter. Binds cytochalasin B in a glucose-inhibitable manner. Seems to be a dual-specific sugar transporter as it is inhibitable by fructose (By similarity).',NULL,NULL,NULL,NULL,NULL),(4840,'UniProt Function',NULL,5996,NULL,'Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium.',NULL,NULL,NULL,NULL,NULL),(4841,'UniProt Function',NULL,5997,NULL,'This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.',NULL,NULL,NULL,NULL,NULL),(4842,'UniProt Function',NULL,5998,NULL,'Receptor for the E.coli heat-stable enterotoxin (E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GC-C). Also activated by the endogenous peptides guanylin and uroguanylin.',NULL,NULL,NULL,NULL,NULL),(4843,'UniProt Function',NULL,5999,NULL,'Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.',NULL,NULL,NULL,NULL,NULL),(4844,'UniProt Function',NULL,6000,NULL,'Histones H1 are necessary for the condensation of nucleosome chains into higher-order structures.',NULL,NULL,NULL,NULL,NULL),(4845,'UniProt Function',NULL,6001,NULL,'Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing (PubMed:22795134). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability (PubMed:15257289, PubMed:16287874, PubMed:16957777, PubMed:17591702, PubMed:17726088, PubMed:18329190, PubMed:22795134). Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo (PubMed:15257289, PubMed:16957777, PubMed:17591702, PubMed:24336483). They are enriched in actively transcribed genes and associate with the elongating form of RNA polymerase (PubMed:17591702, PubMed:24753410). They associate with spliceosome components and are required for mRNA splicing (PubMed:22795134).',NULL,NULL,NULL,NULL,NULL),(4846,'UniProt Function',NULL,6002,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(4847,'UniProt Function',NULL,6003,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Hominid-specific H3.5/H3F3C preferentially colocalizes with euchromatin, and it is associated with actively transcribed genes.',NULL,NULL,NULL,NULL,NULL),(4848,'UniProt Function',NULL,6004,NULL,'Primate-specific variant histone H3, which constitutes a core component of nucleosomes (PubMed:20819935). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (Probable).',NULL,NULL,NULL,NULL,NULL),(4849,'UniProt Function',NULL,6005,NULL,'May play a role in cellular stress response.',NULL,NULL,NULL,NULL,NULL),(4850,'UniProt Function',NULL,6006,NULL,'Acetylates soluble but not nucleosomal histone H4 at \'Lys-5\' (H4K5ac) and \'Lys-12\' (H4K12ac) and, to a lesser extent, acetylates histone H2A at \'Lys-5\' (H2AK5ac). Has intrinsic substrate specificity that modifies lysine in recognition sequence GXGKXG. May be involved in nucleosome assembly during DNA replication and repair as part of the histone H3.1 and H3.3 complexes. May play a role in DNA repair in response to free radical damage.',NULL,NULL,NULL,NULL,NULL),(4851,'UniProt Function',NULL,6007,NULL,'Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.',NULL,NULL,NULL,NULL,NULL),(4852,'UniProt Function',NULL,6008,NULL,'Catalyzes the oxidation of L-alpha-hydroxy acids as well as, more slowly, that of L-alpha-amino acids.',NULL,NULL,NULL,NULL,NULL),(4853,'UniProt Function',NULL,6009,NULL,'Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen.',NULL,NULL,NULL,NULL,NULL),(4854,'UniProt Function',NULL,6010,NULL,'Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic droplet of the spermatozoon. E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer it to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(4855,'UniProt Function',NULL,6011,NULL,'Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5\'-CACGTG-3\' (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.',NULL,NULL,NULL,NULL,NULL),(4856,'UniProt Function',NULL,6012,NULL,'Serine/threonine-protein kinase involved in transcription regulation, p53/TP53-mediated cellular apoptosis and regulation of the cell cycle. Acts as a corepressor of several transcription factors, including SMAD1 and POU4F1/Brn3a and probably NK homeodomain transcription factors. Phosphorylates PDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300, CTNNB1, HMGA1 and ZBTB4. Inhibits cell growth and promotes apoptosis through the activation of p53/TP53 both at the transcription level and at the protein level (by phosphorylation and indirect acetylation). The phosphorylation of p53/TP53 may be mediated by a p53/TP53-HIPK2-AXIN1 complex. Involved in the response to hypoxia by acting as a transcriptional co-suppressor of HIF1A. Mediates transcriptional activation of TP73. In response to TGFB, cooperates with DAXX to activate JNK. Negative regulator through phosphorylation and subsequent proteasomal degradation of CTNNB1 and the antiapoptotic factor CTBP1. In the Wnt/beta-catenin signaling pathway acts as an intermediate kinase between MAP3K7/TAK1 and NLK to promote the proteasomal degradation of MYB. Phosphorylates CBX4 upon DNA damage and promotes its E3 SUMO-protein ligase activity. Activates CREB1 and ATF1 transcription factors by phosphorylation in response to genotoxic stress. In response to DNA damage, stabilizes PML by phosphorylation. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. Promotes angiogenesis, and is involved in erythroid differentiation, especially during fetal liver erythropoiesis. Phosphorylation of RUNX1 and EP300 stimulates EP300 transcription regulation activity. Triggers ZBTB4 protein degradation in response to DNA damage. Modulates HMGA1 DNA-binding affinity. In response to high glucose, triggers phosphorylation-mediated subnuclear localization shifting of PDX1. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis.',NULL,NULL,NULL,NULL,NULL),(4857,'UniProt Function',NULL,6013,NULL,'Transcriptional repressor that binds to the consensus sequence 5\'-CGGACGTT-3\' and to the RB1 promoter. Transcriptional activator that promotes histone H4 gene transcription at the G1/S phase transition in conjunction with NPAT. Also activates transcription of the ATM and PRKDC genes. Autoregulates its expression by associating with its own promoter.',NULL,NULL,NULL,NULL,NULL),(4858,'UniProt Function',NULL,6014,NULL,'May play an important role in the development of cancers in a broad range of tissues.',NULL,NULL,NULL,NULL,NULL),(4859,'UniProt Function',NULL,6015,NULL,'Hydrolase probably involved in steroid biosynthesis. May play a role in apoptosis. Has adenosine phosphoramidase activity.',NULL,NULL,NULL,NULL,NULL),(4860,'UniProt Function',NULL,6016,NULL,'Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the periodic repression of histone gene transcription during the cell cycle. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit.',NULL,NULL,NULL,NULL,NULL),(4861,'UniProt Function',NULL,6017,NULL,'Acts as a specific nuclear import carrier for HSP70 proteins following heat-shock stress: acts by mediating the nucleoporin-dependent translocation of ATP-bound HSP70 proteins into the nucleus. HSP70 proteins import is required to protect cells from heat shock damages. Does not translocate ADP-bound HSP70 proteins into the nucleus.',NULL,NULL,NULL,NULL,NULL),(4862,'UniProt Function',NULL,6018,NULL,'Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. Binds to the 5\'-CAAGTG-3\' core sequence. Controls semicircular canal formation in the inner ear. Also required for hypothalamic/pituitary axis of the CNS (By similarity).',NULL,NULL,NULL,NULL,NULL),(4863,'UniProt Function',NULL,6019,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(4864,'UniProt Function',NULL,6020,NULL,'Multifunctional redox sensitive protein with various roles in different cellular compartments. In the nucleus is one of the major chromatin-associated non-histone proteins and acts as a DNA chaperone involved in replication, transcription, chromatin remodeling, V(D)J recombination, DNA repair and genome stability. Proposed to be an universal biosensor for nucleic acids. Promotes host inflammatory response to sterile and infectious signals and is involved in the coordination and integration of innate and adaptive immune responses. In the cytoplasm functions as sensor and/or chaperone for immunogenic nucleic acids implicating the activation of TLR9-mediated immune responses, and mediates autophagy. Acts as danger associated molecular pattern (DAMP) molecule that amplifies immune responses during tissue injury (PubMed:27362237). Released to the extracellular environment can bind DNA, nucleosomes, IL-1 beta, CXCL12, AGER isoform 2/sRAGE, lipopolysaccharide (LPS) and lipoteichoic acid (LTA), and activates cells through engagement of multiple surface receptors. In the extracellular compartment fully reduced HMGB1 (released by necrosis) acts as a chemokine, disulfide HMGB1 (actively secreted) as a cytokine, and sulfonyl HMGB1 (released from apoptotic cells) promotes immunological tolerance (PubMed:23519706, PubMed:23446148, PubMed:23994764, PubMed:25048472). Has proangiogdenic activity (By similarity). May be involved in platelet activation (By similarity). Binds to phosphatidylserine and phosphatidylethanolamide (By similarity). Bound to RAGE mediates signaling for neuronal outgrowth (By similarity). May play a role in accumulation of expanded polyglutamine (polyQ) proteins such as huntingtin (HTT) or TBP (PubMed:23303669, PubMed:25549101).',NULL,NULL,NULL,NULL,NULL),(4865,'UniProt Function',NULL,6020,NULL,'Nuclear functions are attributed to fully reduced HGMB1. Associates with chromatin and binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA, DNA-containing cruciforms or bent structures, supercoiled DNA and ZDNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters by enhancing transcription factor binding and/or bringing distant regulatory sequences into close proximity (PubMed:20123072). May have an enhancing role in nucleotide excision repair (NER) (By similarity). However, effects in NER using in vitro systems have been reported conflictingly (PubMed:19446504, PubMed:19360789). May be involved in mismatch repair (MMR) and base excision repair (BER) pathways (PubMed:15014079, PubMed:16143102, PubMed:17803946). May be involved in double strand break repair such as non-homologous end joining (NHEJ) (By similarity). Involved in V(D)J recombination by acting as a cofactor of the RAG complex: acts by stimulating cleavage and RAG protein binding at the 23 bp spacer of conserved recombination signal sequences (RSS) (By similarity). In vitro can displace histone H1 from highly bent DNA (By similarity). Can restructure the canonical nucleosome leading to relaxation of structural constraints for transcription factor-binding (By similarity). Enhances binding of sterol regulatory element-binding proteins (SREBPs) such as SREBF1 to their cognate DNA sequences and increases their transcriptional activities (By similarity). Facilitates binding of TP53 to DNA (PubMed:23063560). Proposed to be involved in mitochondrial quality control and autophagy in a transcription-dependent fashion implicating HSPB1; however, this function has been questioned (By similarity). Can modulate the activity of the telomerase complex and may be involved in telomere maintenance (By similarity).',NULL,NULL,NULL,NULL,NULL),(4866,'UniProt Function',NULL,6020,NULL,'In the cytoplasm proposed to dissociate the BECN1:BCL2 complex via competitive interaction with BECN1 leading to autophagy activation (PubMed:20819940). Involved in oxidative stress-mediated autophagy (PubMed:21395369). Can protect BECN1 and ATG5 from calpain-mediated cleavage and thus proposed to control their proautophagic and proapoptotic functions and to regulate the extent and severity of inflammation-associated cellular injury (By similarity). In myeloid cells has a protective role against endotoxemia and bacterial infection by promoting autophagy (By similarity). Involved in endosomal translocation and activation of TLR9 in response to CpG-DNA in macrophages (By similarity).',NULL,NULL,NULL,NULL,NULL),(4867,'UniProt Function',NULL,6020,NULL,'In the extracellular compartment (following either active secretion or passive release) involved in regulation of the inflammatory response. Fully reduced HGMB1 (which subsequently gets oxidized after release) in association with CXCL12 mediates the recruitment of inflammatory cells during the initial phase of tissue injury; the CXCL12:HMGB1 complex triggers CXCR4 homodimerization (PubMed:22370717). Induces the migration of monocyte-derived immature dendritic cells and seems to regulate adhesive and migratory functions of neutrophils implicating AGER/RAGE and ITGAM (By similarity). Can bind to various types of DNA and RNA including microbial unmethylated CpG-DNA to enhance the innate immune response to nucleic acids. Proposed to act in promiscuous DNA/RNA sensing which cooperates with subsequent discriminative sensing by specific pattern recognition receptors (By similarity). Promotes extracellular DNA-induced AIM2 inflammasome activation implicating AGER/RAGE (PubMed:24971542). Disulfide HMGB1 binds to transmembrane receptors, such as AGER/RAGE, TLR2, TLR4 and probably TREM1, thus activating their signal transduction pathways. Mediates the release of cytokines/chemokines such as TNF, IL-1, IL-6, IL-8, CCL2, CCL3, CCL4 and CXCL10 (PubMed:12765338, PubMed:18354232, PubMed:19264983, PubMed:20547845, PubMed:24474694). Promotes secretion of interferon-gamma by macrophage-stimulated natural killer (NK) cells in concert with other cytokines like IL-2 or IL-12 (PubMed:15607795). TLR4 is proposed to be the primary receptor promoting macrophage activation and signaling through TLR4 seems to implicate LY96/MD-2 (PubMed:20547845). In bacterial LPS- or LTA-mediated inflammatory responses binds to the endotoxins and transfers them to CD14 for signaling to the respective TLR4:LY96 and TLR2 complexes (PubMed:18354232, PubMed:21660935, PubMed:25660311). Contributes to tumor proliferation by association with ACER/RAGE (By similarity). Can bind to IL1-beta and signals through the IL1R1:IL1RAP receptor complex (PubMed:18250463). Binding to class A CpG activates cytokine production in plasmacytoid dendritic cells implicating TLR9, MYD88 and AGER/RAGE and can activate autoreactive B cells. Via HMGB1-containing chromatin immune complexes may also promote B cell responses to endogenous TLR9 ligands through a B-cell receptor (BCR)-dependent and ACER/RAGE-independent mechanism (By similarity). Inhibits phagocytosis of apoptotic cells by macrophages; the function is dependent on poly-ADP-ribosylation and involves binding to phosphatidylserine on the cell surface of apoptotic cells (By similarity). In adaptive immunity may be involved in enhancing immunity through activation of effector T cells and suppression of regulatory T (TReg) cells (PubMed:15944249, PubMed:22473704). In contrast, without implicating effector or regulatory T-cells, required for tumor infiltration and activation of T-cells expressing the lymphotoxin LTA:LTB heterotrimer thus promoting tumor malignant progression (By similarity). Also reported to limit proliferation of T-cells (By similarity). Released HMGB1:nucleosome complexes formed during apoptosis can signal through TLR2 to induce cytokine production (PubMed:19064698). Involved in induction of immunological tolerance by apoptotic cells; its pro-inflammatory activities when released by apoptotic cells are neutralized by reactive oxygen species (ROS)-dependent oxidation specifically on Cys-106 (PubMed:18631454). During macrophage activation by activated lymphocyte-derived self apoptotic DNA (ALD-DNA) promotes recruitment of ALD-DNA to endosomes (By similarity).',NULL,NULL,NULL,NULL,NULL),(4868,'UniProt Function',NULL,6021,NULL,'May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules (PubMed:17041891). Acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning (PubMed:25189619).',NULL,NULL,NULL,NULL,NULL),(4869,'UniProt Function',NULL,6022,NULL,'The H3 subclass of histamine receptors could mediate the histamine signals in CNS and peripheral nervous system. Signals through the inhibition of adenylate cyclase and displays high constitutive activity (spontaneous activity in the absence of agonist). Agonist stimulation of isoform 3 neither modified adenylate cyclase activity nor induced intracellular calcium mobilization.',NULL,NULL,NULL,NULL,NULL),(4870,'UniProt Function',NULL,6023,NULL,'Involved in intracellular signal transduction mediated by cytokines and growth factors. When associated with STAM, it suppresses DNA signaling upon stimulation by IL-2 and GM-CSF. Could be a direct effector of PI3-kinase in vesicular pathway via early endosomes and may regulate trafficking to early and late endosomes by recruiting clathrin. May concentrate ubiquitinated receptors within clathrin-coated regions. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with STAM (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes. May contribute to the efficient recruitment of SMADs to the activin receptor complex. Involved in receptor recycling via its association with the CART complex, a multiprotein complex required for efficient transferrin receptor recycling but not for EGFR degradation.',NULL,NULL,NULL,NULL,NULL),(4871,'UniProt Function',NULL,6024,NULL,'May play a role in chromatin function and histone metabolism via its interaction with HIRA and histones.',NULL,NULL,NULL,NULL,NULL),(4872,'UniProt Function',NULL,6025,NULL,'Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins.',NULL,NULL,NULL,NULL,NULL),(4873,'UniProt Function',NULL,6026,NULL,'Binds directly to 5\'-TTAGGG-3\' repeats in telomeric DNA (PubMed:23813958, PubMed:23685356). Associates with the telomerase complex at sites of active telomere processing and positively regulates telomere elongation (PubMed:23685356). Important for TERT binding to chromatin, indicating a role in recruitment of the telomerase complex to telomeres (By similarity). Also plays a role in the alternative lengthening of telomeres (ALT) pathway in telomerase-negative cells where it promotes formation and/or maintenance of ALT-associated promyelocytic leukemia bodies (APBs) (PubMed:23813958). Enhances formation of telomere C-circles in ALT cells, suggesting a possible role in telomere recombination (PubMed:23813958). Might also be involved in the DNA damage response at telomeres (PubMed:23813958).',NULL,NULL,NULL,NULL,NULL),(4874,'UniProt Function',NULL,6028,NULL,'Precursor of the histocomplatibility antigen HB-1. More generally, minor histocomplatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocomplatibility antigen in HLA-matched sibling marrow transplants. HB-1 is presented on the cell surface by MHC class I HLA-B44. This complex specifically elicits donor-cytotoxic T lymphocyte (CTL) reactivity in B-cell acute lymphoblastic leukemia (B-ALL) after treatment by HLA-identical allogenic bone marrow transplantation (BMT). It induces cell recognition and lysis by CTL. However, HB-1 restricted expression in B-ALL cells and not in normal tissues may allow a specific CTL reactivity against B-ALL without the risk of evoking graft-versus-host disease.',NULL,NULL,NULL,NULL,NULL),(4875,'UniProt Function',NULL,6029,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(4876,'UniProt Function',NULL,6030,NULL,'Transcription factor, probably binds to the inverted palindrome 5\'-GTTAATNATTAAC-3\'.',NULL,NULL,NULL,NULL,NULL),(4877,'UniProt Function',NULL,6031,NULL,'Probably serves as a target for the spiC protein from Salmonella typhimurium, which inactivates it, leading to a strong alteration in cellular trafficking (By similarity). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). May regulate clearance of endocytosed receptors such as MSR1. Participates in defining the architecture and localization of the Golgi complex. Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (PubMed:25035494).',NULL,NULL,NULL,NULL,NULL),(4878,'UniProt Function',NULL,6032,NULL,'Component of heterochromatin that maintains heterochromatin integrity during G1/S progression and regulates the duration of G1 phase to critically influence cell proliferative capacity (PubMed:24830416). Mediates chromatin condensation during hypoxia, leading to increased tumor cell viability, radio-resistance, chemo-resistance and self-renewal(PubMed:25100860).',NULL,NULL,NULL,NULL,NULL),(4879,'UniProt Function',NULL,6033,NULL,'May function as a ferroxidase and may be involved in copper transport and homeostasis.',NULL,NULL,NULL,NULL,NULL),(4880,'UniProt Function',NULL,6034,NULL,'Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.',NULL,NULL,NULL,NULL,NULL),(4881,'UniProt Function',NULL,6035,NULL,'E3 ubiquitin-protein ligase that regulates ubiquitin-dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting DNA damage-induced formation of \'Lys-63\'-linked ubiquitin chains. Acts as a mediator of binding specificity between UBE2N and RNF8. Involved in the maintenance of RNF168 levels. E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of XPA which influences the circadian oscillation of DNA excision repair activity. By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333).',NULL,NULL,NULL,NULL,NULL),(4882,'UniProt Function',NULL,6038,NULL,'Promotes cleavage furrow maturation during cytokinesis in preimplantation embryos. May play a role in the architecture of adhesive and flexible epithelial cell junctions. May play a role during myocardial remodeling by imparting an effect on cardiac fibroblast migration.',NULL,NULL,NULL,NULL,NULL),(4883,'UniProt Function',NULL,6039,NULL,'Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Heme oxygenase 2 could be implicated in the production of carbon monoxide in brain where it could act as a neurotransmitter.',NULL,NULL,NULL,NULL,NULL),(4884,'UniProt Function',NULL,6040,NULL,'Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation (By similarity).',NULL,NULL,NULL,NULL,NULL),(4885,'UniProt Function',NULL,6041,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(4886,'UniProt Function',NULL,6042,NULL,'Acts as a basic transcriptional regulator. Represses basic transcription driven by several virus and cellular promoters. When associated with BRD7, activates transcription of glucocorticoid-responsive promoter in the absence of ligand-stimulation. Plays also a role in mRNA processing and transport. Binds avidly to poly(G) and poly(C) RNA homopolymers in vitro.',NULL,NULL,NULL,NULL,NULL),(4887,'UniProt Function',NULL,6043,NULL,'Catalyzes the final step in the metabolic pathway of hydroxyproline.',NULL,NULL,NULL,NULL,NULL),(4888,'UniProt Function',NULL,6044,NULL,'Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. In the nucleus is an abundant chromatin-associated non-histone protein involved in transcription, chromatin remodeling and V(D)J recombination and probably other processes. Binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters by enhancing transcription factor binding and/or bringing distant regulatory sequences into close proximity (PubMed:7797075, PubMed:11909973, PubMed:19522541, PubMed:18413230, PubMed:19965638, PubMed:20123072). Involved in V(D)J recombination by acting as a cofactor of the RAG complex: acts by stimulating cleavage and RAG protein binding at the 23 bp spacer of conserved recombination signal sequences (RSS) (By similarity). Proposed to be involved in the innate immune response to nucleic acids by acting as a promiscuous immunogenic DNA/RNA sensor which cooperates with subsequent discriminative sensing by specific pattern recognition receptors (By similarity). In the extracellular compartment acts as a chemokine. Promotes proliferation and migration of endothelial cells implicating AGER/RAGE (PubMed:19811285). Has antimicrobial activity in gastrointestinal epithelial tissues (PubMed:23877675). Involved in inflammatory response to antigenic stimulus coupled with proinflammatory activity (By similarity). Involved in modulation of neurogenesis probably by regulation of neural stem proliferation (By similarity). Involved in articular cartilage surface maintenance implicating LEF1 and the Wnt/beta-catenin pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(4889,'UniProt Function',NULL,6045,NULL,'May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs.',NULL,NULL,NULL,NULL,NULL),(4890,'UniProt Function',NULL,6046,NULL,'Atypical homeodomain protein which does not bind DNA and is required to modulate cardiac growth and development. Acts via its interaction with SRF, thereby modulating the expression of SRF-dependent cardiac-specific genes and cardiac development. Prevents SRF-dependent transcription either by inhibiting SRF binding to DNA or by recruiting histone deacetylase (HDAC) proteins that prevent transcription by SRF. Overexpression causes cardiac hypertrophy (By similarity). May act as a tumor suppressor. Acts as a co-chaperone for HSPA1A and HSPA1B chaperone proteins and assists in chaperone-mediated protein refolding (PubMed:27708256).',NULL,NULL,NULL,NULL,NULL),(4891,'UniProt Function',NULL,6047,NULL,'Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton (By similarity). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex) (PubMed:18799622).',NULL,NULL,NULL,NULL,NULL),(4892,'UniProt Function',NULL,6049,NULL,'Transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(4893,'UniProt Function',NULL,6050,NULL,'Protein kinase that phosphorylates human TP53 at Ser-9, and thus induces TP53 repression of BIRC5 promoter (By similarity). May act as a corepressor of transcription factors (Potential).',NULL,NULL,NULL,NULL,NULL),(4894,'UniProt Function',NULL,6051,NULL,'Histatins are salivary proteins that are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and antifungal activities.',NULL,NULL,NULL,NULL,NULL),(4895,'UniProt Function',NULL,6052,NULL,'Hydrolyzes phosphoramidate and acyl-adenylate substrates.',NULL,NULL,NULL,NULL,NULL),(4896,'UniProt Function',NULL,6053,NULL,'Hydroxylates HIF-1 alpha at \'Asn-803\' in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting vascular differentiation.',NULL,NULL,NULL,NULL,NULL),(4897,'UniProt Function',NULL,6054,NULL,'Histatins are salivary proteins that are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and antifungal activities. His3-(20-43)-peptide (histatin-5) is especially effective against C.albicans and C.neoformans, and inhibits Lys-gingipain and Arg-gingipain (rgpB) from P.gingivalis. In addition, His3-(20-43)-peptide is a potent inhibitor of metalloproteinases MMP2 and MMP9.',NULL,NULL,NULL,NULL,NULL),(4898,'UniProt Function',NULL,6056,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(4899,'UniProt Function',NULL,6057,NULL,'Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development.',NULL,NULL,NULL,NULL,NULL),(4900,'UniProt Function',NULL,6058,NULL,'Binds to nucleosomes, regulating chromatin structure and consequently, chromatin-dependent processes such as transcription, DNA replication and DNA repair. Affects both insulin and glucagon levels and modulates the expression of pancreatic genes involved in insulin secretion. Regulates the expression of the glucose transporter SLC2A2 by binding specifically to its promoter region and recruiting PDX1 and additional transcription factors. Regulates the expression of SLC6A9, a glycine transporter which regulates the glycine concentration in synaptic junctions in the central nervous system, by binding to its transcription start site. May play a role in ocular development and astrocyte function (By similarity).',NULL,NULL,NULL,NULL,NULL),(4901,'UniProt Function',NULL,6059,NULL,'Involved in the splicing process and participates in early heat shock-induced splicing arrest. Due to their great structural variations the different isoforms may possess different functions in the splicing reaction.',NULL,NULL,NULL,NULL,NULL),(4902,'UniProt Function',NULL,6060,NULL,'Plays a key role in meiotic progression. Regulates 3 different functions during meiosis: ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single-stranded DSB ends. Promotes synaptonemal-complex formation independently of its role in homology search. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes.',NULL,NULL,NULL,NULL,NULL),(4903,'UniProt Function',NULL,6061,NULL,'Acts as a transcriptional regulator. Promotes transcription repression. Promotes transcription activation in differentiated myotubes (By similarity). Binds to double- and single-stranded DNA sequences. Binds to the transcription suppressor CATR sequence of the COX5B promoter (By similarity). Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3\'-UTR of many proto-oncogenes and cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A) mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or poly(C) RNA homopolymers. Binds to the 5\'-ACUAGC-3\' RNA consensus sequence.',NULL,NULL,NULL,NULL,NULL),(4904,'UniProt Function',NULL,6062,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(4905,'UniProt Function',NULL,6063,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(4906,'UniProt Function',NULL,6064,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(4907,'UniProt Function',NULL,6065,NULL,'Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Contributes to the establishment and maintenance of centrosome function. May function in the positioning or formation of aggresomes, which are pericentriolar accumulations of misfolded proteins, proteasomes and chaperones.',NULL,NULL,NULL,NULL,NULL),(4908,'UniProt Function',NULL,6066,NULL,'Transcription factor. Has a lower transcription activation potential than HNF4-alpha.',NULL,NULL,NULL,NULL,NULL),(4909,'UniProt Function',NULL,6067,NULL,'Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3\'-UTR of many proto-oncogenes and cytokine mRNAs. Also binds to double- and single-stranded DNA sequences in a specific manner and functions a transcription factor. Each of the RNA-binding domains specifically can bind solely to a single-stranded non-monotonous 5\'-UUAG-3\' sequence and also weaker to the single-stranded 5\'-TTAGGG-3\' telomeric DNA repeat. Binds RNA oligonucleotides with 5\'-UUAGGG-3\' repeats more tightly than the telomeric single-stranded DNA 5\'-TTAGGG-3\' repeats. Binding of RRM1 to DNA inhibits the formation of DNA quadruplex structure which may play a role in telomere elongation. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. May play a role in the regulation of the rhythmic expression of circadian clock core genes. Directly binds to the 3\'UTR of CRY1 mRNA and induces CRY1 rhythmic translation. May also be involved in the regulation of PER2 translation.',NULL,NULL,NULL,NULL,NULL),(4910,'UniProt Function',NULL,6068,NULL,'May function as a transcriptional regulator.',NULL,NULL,NULL,NULL,NULL),(4911,'UniProt Function',NULL,6069,NULL,'Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Exhibits cytoprotective effects since excess of free heme sensitizes cells to undergo apoptosis.',NULL,NULL,NULL,NULL,NULL),(4912,'UniProt Function',NULL,6070,NULL,'May function in hyaluronic acid binding.',NULL,NULL,NULL,NULL,NULL),(4913,'UniProt Function',NULL,6071,NULL,'Binds to hyaluronic acid and may be involved in formation of the extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(4914,'UniProt Function',NULL,6072,NULL,'Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991).',NULL,NULL,NULL,NULL,NULL),(4915,'UniProt Function',NULL,6073,NULL,'Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The co-chaperones have been shown to not only regulate different steps of the ATPase cycle, but they also have an individual specificity such that one co-chaperone may promote folding of a substrate while another may promote degradation. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release. The co-chaperones are of three types: J-domain co-chaperones such as HSP40s (stimulate ATPase hydrolysis by HSP70), the nucleotide exchange factors (NEF) such as BAG1/2/3 (facilitate conversion of HSP70 from the ADP-bound to the ATP-bound state thereby promoting substrate release), and the TPR domain chaperones such as HOPX and STUB1 (PubMed:24012426, PubMed:26865365, PubMed:24318877). Maintains protein homeostasis during cellular stress through two opposing mechanisms: protein refolding and degradation. Its acetylation/deacetylation state determines whether it functions in protein refolding or protein degradation by controlling the competitive binding of co-chaperones HOPX and STUB1. During the early stress response, the acetylated form binds to HOPX which assists in chaperone-mediated protein refolding, thereafter, it is deacetylated and binds to ubiquitin ligase STUB1 that promotes ubiquitin-mediated protein degradation (PubMed:27708256). Regulates centrosome integrity during mitosis, and is required for the maintenance of a functional mitotic centrosome that supports the assembly of a bipolar mitotic spindle (PubMed:27137183). Enhances STUB1-mediated SMAD3 ubiquitination and degradation and facilitates STUB1-mediated inhibition of TGF-beta signaling (PubMed:24613385). Essential for STUB1-mediated ubiquitination and degradation of FOXP3 in regulatory T-cells (Treg) during inflammation (PubMed:23973223).',NULL,NULL,NULL,NULL,NULL),(4916,'UniProt Function',NULL,6073,NULL,'(Microbial infection) In case of rotavirus A infection, serves as a post-attachment receptor for the virus to facilitate entry into the cell.',NULL,NULL,NULL,NULL,NULL),(4917,'UniProt Function',NULL,6074,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate (By similarity).',NULL,NULL,NULL,NULL,NULL),(4918,'UniProt Function',NULL,6075,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate.',NULL,NULL,NULL,NULL,NULL),(4919,'UniProt Function',NULL,6076,NULL,'Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins.',NULL,NULL,NULL,NULL,NULL),(4920,'UniProt Function',NULL,6077,NULL,'DNA-binding protein that specifically binds heat shock promoter elements (HSE) and activates transcription. In higher eukaryotes, HSF is unable to bind to the HSE unless the cells are heat shocked.',NULL,NULL,NULL,NULL,NULL),(4921,'UniProt Function',NULL,6078,NULL,'Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function (PubMed:16478993, PubMed:19696785). Engages with a range of client protein classes via its interaction with various co-chaperone proteins or complexes, that act as adapters, simultaneously able to interact with the specific client and the central chaperone itself. Recruitment of ATP and co-chaperone followed by client protein forms a functional chaperone. After the completion of the chaperoning process, properly folded client protein and co-chaperone leave HSP90 in an ADP-bound partially open conformation and finally, ADP is released from HSP90 which acquires an open conformation for the next cycle (PubMed:27295069, PubMed:26991466). Apart from its chaperone activity, it also plays a role in the regulation of the transcription machinery. HSP90 and its co-chaperones modulate transcription at least at three different levels. In the first place, they alter the steady-state levels of certain transcription factors in response to various physiological cues. Second, they modulate the activity of certain epigenetic modifiers, such as histone deacetylases or DNA methyl transferases, and thereby respond to the change in the environment. Third, they participate in the eviction of histones from the promoter region of certain genes and thereby turn on gene expression (PubMed:25973397). Antagonizes STUB1-mediated inhibition of TGF-beta signaling via inhibition of STUB1-mediated SMAD3 ubiquitination and degradation (PubMed:24613385). Promotes cell differentiation by chaperoning BIRC2 and thereby protecting from auto-ubiquitination and degradation by the proteasomal machinery (PubMed:18239673). Main chaperone that is involved in the phosphorylation/activation of the STAT1 by chaperoning both JAK2 and PRKCE under heat shock and in turn, activates its own transcription (PubMed:20353823).',NULL,NULL,NULL,NULL,NULL),(4922,'UniProt Function',NULL,6080,NULL,'Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661, PubMed:23018488). This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661, PubMed:23018488). The co-chaperones have been shown to not only regulate different steps of the ATPase cycle of HSP70, but they also have an individual specificity such that one co-chaperone may promote folding of a substrate while another may promote degradation (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661, PubMed:23018488). The affinity of HSP70 for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. HSP70 goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release. The HSP70-associated co-chaperones are of three types: J-domain co-chaperones HSP40s (stimulate ATPase hydrolysis by HSP70), the nucleotide exchange factors (NEF) such as BAG1/2/3 (facilitate conversion of HSP70 from the ADP-bound to the ATP-bound state thereby promoting substrate release), and the TPR domain chaperones such as HOPX and STUB1 (PubMed:24318877, PubMed:27474739, PubMed:24121476, PubMed:26865365). Acts as a repressor of transcriptional activation. Inhibits the transcriptional coactivator activity of CITED1 on Smad-mediated transcription. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:10722728, PubMed:11276205). Participates in the ER-associated degradation (ERAD) quality control pathway in conjunction with J domain-containing co-chaperones and the E3 ligase STUB1 (PubMed:23990462).',NULL,NULL,NULL,NULL,NULL),(4923,'UniProt Function',NULL,6081,NULL,'May regulate the kinase DMPK.',NULL,NULL,NULL,NULL,NULL),(4924,'UniProt Function',NULL,6083,NULL,'Component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, binds to the nascent polypeptide chain, while DNAJC2 stimulates its ATPase activity.',NULL,NULL,NULL,NULL,NULL),(4925,'UniProt Function',NULL,6084,NULL,'Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5\'-CANNTG-3\').',NULL,NULL,NULL,NULL,NULL),(4926,'UniProt Function',NULL,6086,NULL,'Functions as a general transcription factor playing a role in the process of transcriptional elongation. May mediate the reciprocal stimulatory effect of splicing on transcriptional elongation. In case of infection by HIV-1, it is up-regulated by the HIV-1 proteins NEF and gp120, acts as a cofactor required for the Tat-enhanced transcription of the virus.',NULL,NULL,NULL,NULL,NULL),(4927,'UniProt Function',NULL,6087,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(4928,'UniProt Function',NULL,6089,NULL,'DNA-binding protein that binds to the 5\'-CAAG-3\' core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear.',NULL,NULL,NULL,NULL,NULL),(4929,'UniProt Function',NULL,6090,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(4930,'UniProt Function',NULL,6091,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(4931,'UniProt Function',NULL,6093,NULL,'Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Plays a role in the regulation of alternative splicing events. Binds G-rich sequences in pre-mRNAs and keeps target RNA in an unfolded state.',NULL,NULL,NULL,NULL,NULL),(4932,'UniProt Function',NULL,6094,NULL,'Bifunctional enzyme which catalyzes both the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation, and the conjugation of glutathione with a wide range of aryl halides and organic isothiocyanates. Also exhibits low glutathione-peroxidase activity towards cumene hydroperoxide.',NULL,NULL,NULL,NULL,NULL),(4933,'UniProt Function',NULL,6095,NULL,'Regulates HCFC1 activity by modulating its subcellular localization. Overexpression of HCFC1R1 leads to accumulation of HCFC1 in the cytoplasm. HCFC1R1-mediated export may provide the pool of cytoplasmic HCFC1 required for import of virion-derived VP16 into the nucleus.',NULL,NULL,NULL,NULL,NULL),(4934,'UniProt Function',NULL,6097,NULL,'The H2 subclass of histamine receptors mediates gastric acid secretion. Also appears to regulate gastrointestinal motility and intestinal secretion. Possible role in regulating cell growth and differentiation. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and, through a separate G protein-dependent mechanism, the phosphoinositide/protein kinase (PKC) signaling pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(4935,'UniProt Function',NULL,6098,NULL,'Acts as a nucleotide-exchange factor (NEF) for chaperone proteins HSPA1A and HSPA1B, promoting the release of ADP from HSPA1A/B thereby triggering client/substrate protein release (PubMed:24318877). Prevents the aggregation of denatured proteins in cells under severe stress, on which the ATP levels decrease markedly. Inhibits HSPA8/HSC70 ATPase and chaperone activities (By similarity).',NULL,NULL,NULL,NULL,NULL),(4936,'UniProt Function',NULL,6099,NULL,'Promotes apoptosis.',NULL,NULL,NULL,NULL,NULL),(4937,'UniProt Function',NULL,6100,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to heparan sulfate. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes Simplex Virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate.',NULL,NULL,NULL,NULL,NULL),(4938,'UniProt Function',NULL,6101,NULL,'May be involved in modulating HSF2 activation in testis (PubMed:9651507). Inhibits BNC1 transcriptional activity during spermatogenesis, probably by sequestering it in the cytoplasm (By similarity).',NULL,NULL,NULL,NULL,NULL),(4939,'UniProt Function',NULL,6102,NULL,'May be a modulator of the apoptotic response through its ability to affect mitochondrial stability (By similarity). Adapter protein involved in tyrosine kinase and CD28 signaling. Seems to affect CD28-mediated activation of the RE/AP element of the interleukin-2 promoter.',NULL,NULL,NULL,NULL,NULL),(4940,'UniProt Function',NULL,6103,NULL,'May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1.',NULL,NULL,NULL,NULL,NULL),(4941,'UniProt Function',NULL,6104,NULL,'Methyltransferase that adds a 2\'-O-methyl group at the 3\'-end of piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. This probably protects the 3\'-end of piRNAs from uridylation activity and subsequent degradation. Stabilization of piRNAs is essential for gametogenesis.',NULL,NULL,NULL,NULL,NULL),(4942,'UniProt Function',NULL,6105,NULL,'Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner.',NULL,NULL,NULL,NULL,NULL),(4943,'UniProt Function',NULL,6105,NULL,'Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils.',NULL,NULL,NULL,NULL,NULL),(4944,'UniProt Function',NULL,6106,NULL,'Transcriptional repressor which binds preferentially to the canonical E box sequence 5\'-CACGTG-3\' (PubMed:11095750). Downstream effector of Notch signaling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY2 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6 and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3 (PubMed:15485867). Involved in the regulation of liver cancer cells self-renewal (PubMed:25985737).',NULL,NULL,NULL,NULL,NULL),(4945,'UniProt Function',NULL,6107,NULL,'Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.',NULL,NULL,NULL,NULL,NULL),(4946,'UniProt Function',NULL,6109,NULL,'Through interaction with TMIGD2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade.',NULL,NULL,NULL,NULL,NULL),(4947,'UniProt Function',NULL,6111,NULL,'Functions as a master transcriptional regulator of the adaptive response to hypoxia. Under hypoxic conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5\'-TACGTG-3\' within the hypoxia response element (HRE) of target gene promoters (By similarity). Activation requires recruitment of transcriptional coactivators such as CREBBP and EP300. Activity is enhanced by interaction with both, NCOA1 or NCOA2. Interaction with redox regulatory protein APEX seems to activate CTAD and potentiates activation by NCOA1 and CREBBP. Involved in the axonal distribution and transport of mitochondria in neurons during hypoxia.',NULL,NULL,NULL,NULL,NULL),(4948,'UniProt Function',NULL,6112,NULL,'Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.',NULL,NULL,NULL,NULL,NULL),(4949,'UniProt Function',NULL,6113,NULL,'Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex (PubMed:26997484). Slows down the rate of inactivation of KCNC3 channels (PubMed:26997484). Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools.',NULL,NULL,NULL,NULL,NULL),(4950,'UniProt Function',NULL,6114,NULL,'Involved in oxygen transport from the lung to the various peripheral tissues.',NULL,NULL,NULL,NULL,NULL),(4951,'UniProt Function',NULL,6116,NULL,'Acts as a high affinity receptor for both nicotinic acid (also known as niacin) and (D)-beta-hydroxybutyrate and mediates increased adiponectin secretion and decreased lipolysis through G(i)-protein-mediated inhibition of adenylyl cyclase. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet. Mediates nicotinic acid-induced apoptosis in mature neutrophils. Receptor activation by nicotinic acid results in reduced cAMP levels which may affect activity of cAMP-dependent protein kinase A and phosphorylation of target proteins, leading to neutrophil apoptosis. The rank order of potency for the displacement of nicotinic acid binding is 5-methyl pyrazole-3-carboxylic acid = pyridine-3-acetic acid > acifran > 5-methyl nicotinic acid = acipimox >> nicotinuric acid = nicotinamide.',NULL,NULL,NULL,NULL,NULL),(4952,'UniProt Function',NULL,6117,NULL,'Hyperpolarization-activated potassium channel. May also facilitate the permeation of sodium ions.',NULL,NULL,NULL,NULL,NULL),(4953,'UniProt Function',NULL,6119,NULL,'Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.',NULL,NULL,NULL,NULL,NULL),(4954,'UniProt Function',NULL,6120,NULL,'Represses CREB3-mediated transcription by interfering with CREB3-DNA binding.',NULL,NULL,NULL,NULL,NULL),(4955,'UniProt Function',NULL,6123,NULL,'Heparin-binding protein, with mitogenic activity for fibroblasts. Acts as a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(4956,'UniProt Function',NULL,6124,NULL,'Transcription repressor that binds to the promoter of target genes and prevents their expression. Acts as a negative regulator of epithelial-mesenchymal transition and metastasis in breast cancer. Specifically binds the 5\'-CACCC-3\' sequence in the promoter of ID1, a key metastasis regulator in breast cancer, and repress its expression. May be a germ cell-specific transcription factor that plays important roles in spermatid differentiation and oocyte development (By similarity).',NULL,NULL,NULL,NULL,NULL),(4957,'UniProt Function',NULL,6125,NULL,'Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters. When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation.',NULL,NULL,NULL,NULL,NULL),(4958,'UniProt Function',NULL,6126,NULL,'Can promote mitochondrial permeability transition and facilitate necrotic cell death under different types of stress conditions.',NULL,NULL,NULL,NULL,NULL),(4959,'UniProt Function',NULL,6128,NULL,'Transcriptional repressor and activator. Binds to CACCC-boxes promoter elements. Also binds the GT-box of cyclin D1 promoter and mediates cell cycle progression at G(1) phase as a downstream target of focal adhesion kinase (FAK).',NULL,NULL,NULL,NULL,NULL),(4960,'UniProt Function',NULL,6129,NULL,'Probable E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(4961,'UniProt Function',NULL,6130,NULL,'Transcription factor that binds to GC box promoter elements. Selectively activates mRNA synthesis from genes containing tandem repeats of GC boxes but represses genes with a single GC box. Acts as an epidermal circadian transcription factor regulating keratinocyte proliferation (PubMed:22711835).',NULL,NULL,NULL,NULL,NULL),(4962,'UniProt Function',NULL,6131,NULL,'May bind free porphyrinogens that may be present in the cell and thus facilitate removal of these potentially toxic compound. Binds with a high affinity to one molecule of heme or porphyrins. It binds metalloporphyrins, free porphyrins and N-methylprotoporphyrin with similar affinities.',NULL,NULL,NULL,NULL,NULL),(4963,'UniProt Function',NULL,6132,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear (By similarity).',NULL,NULL,NULL,NULL,NULL),(4964,'UniProt Function',NULL,6133,NULL,'Single-stranded DNA-dependent ATPase and 5\' to 3\' DNA helicase (PubMed:11751861). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with POLN polymerase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904).',NULL,NULL,NULL,NULL,NULL),(4965,'UniProt Function',NULL,6134,NULL,'Transcriptional repressor which binds preferentially to the canonical E box sequence 5\'-CACGCG-3\'.',NULL,NULL,NULL,NULL,NULL),(4966,'UniProt Function',NULL,6135,NULL,'As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May be involved in the biogenesis of lysosome-related organelles such as melanosomes (By similarity).',NULL,NULL,NULL,NULL,NULL),(4967,'UniProt Function',NULL,6136,NULL,'Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor (PubMed:14580347, PubMed:15713661, PubMed:15201869). In cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation (PubMed:12832472, PubMed:14580347, PubMed:15713661, PubMed:15201869). May also regulate NF-kappa-B, ESR1, NR3C1 and CIITA-dependent transcriptional activity (PubMed:15940264, PubMed:15941832, PubMed:17088550). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728).',NULL,NULL,NULL,NULL,NULL),(4968,'UniProt Function',NULL,6137,NULL,'Major E3 ligase for ISG15 conjugation. Acts as a positive regulator of innate antiviral response in cells induced by interferon. Functions as part of the ISGylation machinery that recognizes target proteins in a broad and relatively non-specific manner. Catalyzes ISGylation of IRF3 which results in sustained activation, it attenuates IRF3-PIN1 interaction, which antagonizes IRF3 ubiquitination and degradation, and boosts the antiviral response. Catalyzes ISGylation of influenza A viral NS1 which attenuates virulence; ISGylated NS1 fails to form homodimers and thus to interact with its RNA targets. Catalyzes ISGylation of papillomavirus type 16 L1 protein which results in dominant-negative effect on virus infectivity. Physically associated with polyribosomes, broadly modifies newly synthesized proteins in a cotranslational manner. In an interferon-stimulated cell, newly translated viral proteins are primary targets of ISG15.',NULL,NULL,NULL,NULL,NULL),(4969,'UniProt Function',NULL,6138,NULL,'Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins.',NULL,NULL,NULL,NULL,NULL),(4970,'UniProt Function',NULL,6139,NULL,'Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May be involved in Rac1-signaling pathways leading to the modulation of gene expression. Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571).',NULL,NULL,NULL,NULL,NULL),(4971,'UniProt Function',NULL,6140,NULL,'Catalyzes a carbon-carbon cleavage reaction; cleaves a 2-hydroxy-3-methylacyl-CoA into formyl-CoA and a 2-methyl-branched fatty aldehyde.',NULL,NULL,NULL,NULL,NULL),(4972,'UniProt Function',NULL,6141,NULL,'Transcriptional repressor that binds to the promoter region of target genes. Plays a role in the regulation of the cell cycle and of the Wnt pathway. Binds preferentially to the sequence 5\'-TTCATTCATTCA-3\'. Binding to the H1F0 promoter is enhanced by interaction with RB1. Disrupts the interaction between DNA and TCF4.',NULL,NULL,NULL,NULL,NULL),(4973,'UniProt Function',NULL,6142,NULL,'Mitochondrial dehydrogenase that catalyzes the beta-oxidation at position 17 of androgens and estrogens and has 3-alpha-hydroxysteroid dehydrogenase activity with androsterone (PubMed:9553139, PubMed:23042678, PubMed:12917011, PubMed:18996107, PubMed:25925575, PubMed:28888424). Catalyzes the third step in the beta-oxidation of fatty acids (PubMed:9553139, PubMed:12917011, PubMed:18996107, PubMed:25925575, PubMed:28888424). Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids (PubMed:12917011). Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids (PubMed:12917011). By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD) (PubMed:9338779). Essential for structural and functional integrity of mitochondria (PubMed:20077426).',NULL,NULL,NULL,NULL,NULL),(4974,'UniProt Function',NULL,6142,NULL,'In addition to mitochondrial dehydrogenase activity, moonlights as a component of mitochondrial ribonuclease P, a complex that cleaves tRNA molecules in their 5\'-ends (PubMed:18984158, PubMed:24549042, PubMed:25925575, PubMed:26950678, PubMed:28888424). Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; HSD17B10/MRPP2 acting as a non-catalytic subunit (PubMed:23042678, PubMed:25925575, PubMed:28888424). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5\'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3\'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705).',NULL,NULL,NULL,NULL,NULL),(4975,'UniProt Function',NULL,6143,NULL,'Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation. Required for stabilizing the expanded pericentriolar material around the centriole.',NULL,NULL,NULL,NULL,NULL),(4976,'UniProt Function',NULL,6144,NULL,'Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Isoform 1, isoform 2 and isoform 3 phosphorylate CAMK1 and CAMK4. Isoform 3 phosphorylates CAMK1D. Isoform 4, isoform 5 and isoform 6 lacking part of the calmodulin-binding domain are inactive. Efficiently phosphorylates 5\'-AMP-activated protein kinase (AMPK) trimer, including that consisting of PRKAA1, PRKAB1 and PRKAG1. This phosphorylation is stimulated in response to Ca(2+) signals (By similarity). Seems to be involved in hippocampal activation of CREB1 (By similarity). May play a role in neurite growth. Isoform 3 may promote neurite elongation, while isoform 1 may promoter neurite branching.',NULL,NULL,NULL,NULL,NULL),(4977,'UniProt Function',NULL,6145,NULL,'Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(4978,'UniProt Function',NULL,6146,NULL,'Participates in the oxidative stress-induced cell death through MAP3K5 activation. Inhibits PPP5C phosphatase activity on MAP3K5.',NULL,NULL,NULL,NULL,NULL),(4979,'UniProt Function',NULL,6147,NULL,'Plays a key role in the lipolytic processing of chylomicrons. Required for the transport of lipoprotein lipase LPL into the capillary lumen (By similarity).',NULL,NULL,NULL,NULL,NULL),(4980,'UniProt Function',NULL,6151,NULL,'Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Deacetylates HSPA1A and HSPA1B at \'Lys-77\' leading to their preferential binding to co-chaperone STUB1 (PubMed:27708256).',NULL,NULL,NULL,NULL,NULL),(4981,'UniProt Function',NULL,6152,NULL,'Transcriptional activator (By similarity). Binds a GC box motif. Could play a role in B-cell growth and development.',NULL,NULL,NULL,NULL,NULL),(4982,'UniProt Function',NULL,6153,NULL,'Transcriptional activator. Binds in vitro to the CACCC motif of the beta-globin promoter and to the SP1 recognition sequence.',NULL,NULL,NULL,NULL,NULL),(4983,'UniProt Function',NULL,6154,NULL,'E3 ubiquitin ligases accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of TRIOBP and its subsequent proteasomal degradation, thus faciliting cell cycle progression by regulating the turn-over of TRIOBP. Mediates also ubiquitination of STX8 (By similarity).',NULL,NULL,NULL,NULL,NULL),(4984,'UniProt Function',NULL,6155,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(4985,'UniProt Function',NULL,6156,NULL,'Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of \'Lys-4\' of histone H3 (H3K4me) complex and acetylation of \'Lys-16\' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation (PubMed:12453419, PubMed:20677832, PubMed:26886794). Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity (PubMed:19187761, PubMed:26886794). Has no activity toward histone H3 phosphorylated on \'Thr-3\', less activity toward H3 dimethylated on \'Arg-8\' or \'Lys-9\', while it has higher activity toward H3 acetylated on \'Lys-9\'. Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state (PubMed:20010842). Required for transcriptional activation of HOXA9 (PubMed:12453419, PubMed:20677832, PubMed:20010842). Promotes PPP1R15A-induced apoptosis. Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-ARNTL/BMAL1 heterodimer. Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of \'Lys-4\' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-ARNTL/BMAL1 to chromatin (By similarity).',NULL,NULL,NULL,NULL,NULL),(4986,'UniProt Function',NULL,6157,NULL,'Histone methyltransferase. Methylates \'Lys-4\' of histone H3. H3 \'Lys-4\' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation.',NULL,NULL,NULL,NULL,NULL),(4987,'UniProt Function',NULL,6158,NULL,'Histone methyltransferase. Methylates \'Lys-4\' of histone H3. H3 \'Lys-4\' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder.',NULL,NULL,NULL,NULL,NULL),(4988,'UniProt Function',NULL,6159,NULL,'Histone methyltransferase. Methylates \'Lys-4\' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.',NULL,NULL,NULL,NULL,NULL),(4989,'UniProt Function',NULL,6160,NULL,'Protein-lysine N-methyltransferase that monomethylates both histones and non-histone proteins. Specifically monomethylates \'Lys-20\' of histone H4 (H4K20me1). H4K20me1 is enriched during mitosis and represents a specific tag for epigenetic transcriptional repression. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. Required for cell proliferation, probably by contributing to the maintenance of proper higher-order structure of DNA during mitosis. Involved in chromosome condensation and proper cytokinesis. Nucleosomes are preferred as substrate compared to free histones. Mediates monomethylation of p53/TP53 at \'Lys-382\', leading to repress p53/TP53-target genes. Plays a negative role in TGF-beta response regulation and a positive role in cell migration.',NULL,NULL,NULL,NULL,NULL),(4990,'UniProt Function',NULL,6161,NULL,'Histone methyltransferase that specifically trimethylates \'Lys-20\' of histone H4. H4 \'Lys-20\' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3.',NULL,NULL,NULL,NULL,NULL),(4991,'UniProt Function',NULL,6162,NULL,'Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.',NULL,NULL,NULL,NULL,NULL),(4992,'UniProt Function',NULL,6163,NULL,'Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Promotes the nucleation of microtubules from the spindle through recruitment of NEDD1 and gamma-tubulin.',NULL,NULL,NULL,NULL,NULL),(4993,'UniProt Function',NULL,6164,NULL,'The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin.',NULL,NULL,NULL,NULL,NULL),(4994,'UniProt Function',NULL,6165,NULL,'Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Plays also an important role in limb development, particularly in the establishment of anterior-posterior polarization, acting as an upstream regulator of sonic hedgehog (SHH) induction in the limb bud. Is involved in the development of branchial arches, which give rise to unique structures in the head and neck. Binds DNA on E-box consensus sequence 5\'-CANNTG-3\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(4995,'UniProt Function',NULL,6166,NULL,'Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes (By similarity). Plays a central role in microtubule-dependent cell motility via deacetylation of tubulin. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.',NULL,NULL,NULL,NULL,NULL),(4996,'UniProt Function',NULL,6166,NULL,'In addition to its protein deacetylase activity, plays a key role in the degradation of misfolded proteins: when misfolded proteins are too abundant to be degraded by the chaperone refolding system and the ubiquitin-proteasome, mediates the transport of misfolded proteins to a cytoplasmic juxtanuclear structure called aggresome. Probably acts as an adapter that recognizes polyubiquitinated misfolded proteins and target them to the aggresome, facilitating their clearance by autophagy.',NULL,NULL,NULL,NULL,NULL),(4997,'UniProt Function',NULL,6167,NULL,'Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis (PubMed:20107318). Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy. Plays a key role of midbody function involving abscission of the daughter cells during cytokinesis and appropriate chromosomal and nuclear segregation into the daughter cells (PubMed:22988245, PubMed:23713010).',NULL,NULL,NULL,NULL,NULL),(4998,'UniProt Function',NULL,6168,NULL,'May play an important role in some human cancers. May be part of the regulatory mechanism in the development of epithelial tube networks such as the circulatory system and lungs.',NULL,NULL,NULL,NULL,NULL),(4999,'UniProt Function',NULL,6169,NULL,'Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Deacetylates SP proteins, SP1 and SP3, and regulates their function. Component of the BRG1-RB1-HDAC1 complex, which negatively regulates the CREST-mediated transcription in resting neurons. Upon calcium stimulation, HDAC1 is released from the complex and CREBBP is recruited, which facilitates transcriptional activation. Deacetylates TSHZ3 and regulates its transcriptional repressor activity. Deacetylates \'Lys-310\' in RELA and thereby inhibits the transcriptional activity of NF-kappa-B. Deacetylates NR1D2 and abrogates the effect of KAT5-mediated relieving of NR1D2 transcription repression activity. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Involved in CIART-mediated transcriptional repression of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 heterodimer. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex or CRY1 through histone deacetylation.',NULL,NULL,NULL,NULL,NULL),(5000,'UniProt Function',NULL,6170,NULL,'Transcription factor (PubMed:9748269, PubMed:10207080). Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding inhibiting cell growth (PubMed:9748269, PubMed:10207080, PubMed:16131492). Represses transcription of SMAD7 which enhances TGF-beta signaling (By similarity). Induces apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5001,'UniProt Function',NULL,6172,NULL,'Binds to the CACCC box of erythroid cell-expressed genes. May play a role in hematopoiesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5002,'UniProt Function',NULL,6173,NULL,'Transcription factor; can act both as activator and as repressor. Binds the 5\'-CACCC-3\' core sequence. Binds to the promoter region of its own gene and can activate its own transcription. Regulates the expression of key transcription factors during embryonic development. Plays an important role in maintaining embryonic stem cells, and in preventing their differentiation. Required for establishing the barrier function of the skin and for postnatal maturation and maintenance of the ocular surface. Involved in the differentiation of epithelial cells and may also function in skeletal and kidney development. Contributes to the down-regulation of p53/TP53 transcription.',NULL,NULL,NULL,NULL,NULL),(5003,'UniProt Function',NULL,6174,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates \'Lys-63\'-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion. Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure.',NULL,NULL,NULL,NULL,NULL),(5004,'UniProt Function',NULL,6176,NULL,'Amplification-dependent oncogene.',NULL,NULL,NULL,NULL,NULL),(5005,'UniProt Function',NULL,6179,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS.',NULL,NULL,NULL,NULL,NULL),(5006,'UniProt Function',NULL,6180,NULL,'Transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions. Overexpression inhibits the transcriptional activities of both the TPA-response element (TRE) and serum response element (SRE).',NULL,NULL,NULL,NULL,NULL),(5007,'UniProt Function',NULL,6182,NULL,'Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity May act through the stabilization of endothelial cell junctions.',NULL,NULL,NULL,NULL,NULL),(5008,'UniProt Function',NULL,6184,NULL,'Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Required for pseudopod elongation in transformed cells.',NULL,NULL,NULL,NULL,NULL),(5009,'UniProt Function',NULL,6185,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL42) E3 ubiquitin ligase complex mediates the ubiquitination and subsequent degradation of KATNA1. Involved in microtubule dynamics throughout mitosis.',NULL,NULL,NULL,NULL,NULL),(5010,'UniProt Function',NULL,6186,NULL,'May play a role in organizing the actin cytoskeleton of the brain cells.',NULL,NULL,NULL,NULL,NULL),(5011,'UniProt Function',NULL,6187,NULL,'Histone methyltransferase that specifically trimethylates \'Lys-20\' of histone H4. H4 \'Lys-20\' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5C is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity).',NULL,NULL,NULL,NULL,NULL),(5012,'UniProt Function',NULL,6188,NULL,'Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF.',NULL,NULL,NULL,NULL,NULL),(5013,'UniProt Function',NULL,6189,NULL,'Binds preferentially single-stranded DNA and unwinds double-stranded DNA.',NULL,NULL,NULL,NULL,NULL),(5014,'UniProt Function',NULL,6190,NULL,'Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity.',NULL,NULL,NULL,NULL,NULL),(5015,'UniProt Function',NULL,6191,NULL,'Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.',NULL,NULL,NULL,NULL,NULL),(5016,'UniProt Function',NULL,6192,NULL,'Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5\'-CACGTG-3\'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.',NULL,NULL,NULL,NULL,NULL),(5017,'UniProt Function',NULL,6193,NULL,'Plays a role in clathrin-mediated endocytosis and trafficking (PubMed:11532990, PubMed:11577110, PubMed:11889126). Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (By similarity). Regulates presynaptic nerve terminal activity (By similarity). Enhances androgen receptor (AR)-mediated transcription (PubMed:16027218). May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway (PubMed:11007801). Binds 3-phosphoinositides (via ENTH domain) (PubMed:14732715). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis (PubMed:14732715). May play a functional role in the cell filament networks (PubMed:18790740). May be required for differentiation, proliferation, and/or survival of somatic and germline progenitors (PubMed:11007801, PubMed:12163454).',NULL,NULL,NULL,NULL,NULL),(5018,'UniProt Function',NULL,6195,NULL,'Involved in the heme biosynthesis. Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX.',NULL,NULL,NULL,NULL,NULL),(5019,'UniProt Function',NULL,6196,NULL,'Transcriptional repressor. Recognizes and binds to the consensus sequence \'5-[CG]NG[CG]GGGCA[CA]CC-3\'. May act as a tumor suppressor. May be involved in development of head, face, limbs and ventral body wall. Involved in down-regulation of SIRT1 and thereby is involved in regulation of p53/TP53-dependent apoptotic DNA-damage responses. The specific target gene promoter association seems to be depend on corepressors, such as CTBP1 or CTBP2 and MTA1. The regulation of SIRT1 transcription in response to nutrient deprivation seems to involve CTBP1. In cooperation with MTA1 (indicative for an association with the NuRD complex) represses transcription from CCND1/cyclin-D1 and CDKN1C/p57Kip2 specifically in quiescent cells. Involved in regulation of the Wnt signaling pathway probably by association with TCF7L2 and preventing TCF7L2 and CTNNB1 association with promoters of TCF-responsive genes. Seems to repress transcription from E2F1 and ATOH1 which involves ARID1A, indicative for the participation of a distinct SWI/SNF-type chromatin-remodeling complex. Probably represses transcription from ACKR3, FGFBP1 and EFNA1.',NULL,NULL,NULL,NULL,NULL),(5020,'UniProt Function',NULL,6197,NULL,'Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling. May bind GTP.',NULL,NULL,NULL,NULL,NULL),(5021,'UniProt Function',NULL,6198,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5022,'UniProt Function',NULL,6199,NULL,'Isoform 1: Non-classical major histocompatibility class Ib molecule involved in immune regulatory processes at the maternal-fetal interface (PubMed:23184984, PubMed:29262349, PubMed:19304799). In complex with B2M/beta-2 microglobulin binds a limited repertoire of nonamer self-peptides derived from intracellular proteins including histones and ribosomal proteins (PubMed:7584149, PubMed:8805247). Peptide-bound HLA-G-B2M complex acts as a ligand for inhibitory/activating KIR2DL4, LILRB1 and LILRB2 receptors on uterine immune cells to promote fetal development while maintaining maternal-fetal tolerance (PubMed:23184984, PubMed:29262349, PubMed:16366734, PubMed:19304799, PubMed:20448110, PubMed:27859042). Upon interaction with KIR2DL4 and LILRB1 receptors on decidual NK cells, it triggers NK cell senescence-associated secretory phenotype as a molecular switch to promote vascular remodeling and fetal growth in early pregnancy (PubMed:23184984, PubMed:29262349, PubMed:16366734, PubMed:19304799). Through interaction with KIR2DL4 receptor on decidual macrophages induces proinflammatory cytokine production mainly associated with tissue remodeling (PubMed:19304799). Through interaction with LILRB2 receptor triggers differentiation of type 1 regulatory T cells and myeloid-derived suppressor cells, both of which actively maintain maternal-fetal tolerance (PubMed:20448110, PubMed:27859042). May play a role in balancing tolerance and antiviral-immunity at maternal-fetal interface by keeping in check the effector functions of NK, CD8+ T cells and B cells (PubMed:10190900, PubMed:11290782, PubMed:24453251). Reprograms B cells toward an immune suppressive phenotype via LILRB1 (PubMed:24453251). May induce immune activation/suppression via intercellular membrane transfer (trogocytosis), likely enabling interaction with KIR2DL4, which resides mostly in endosomes (PubMed:20179272, PubMed:26460007). Through interaction with the inhibitory receptor CD160 on endothelial cells may control angiogenesis in immune privileged sites (PubMed:16809620).',NULL,NULL,NULL,NULL,NULL),(5023,'UniProt Function',NULL,6199,NULL,'Isoform 2: Negatively regulates NK cell- and CD8+ T cell-mediated cytotoxicity (PubMed:11290782). Likely do not bind B2M and present peptides (Probable).',NULL,NULL,NULL,NULL,NULL),(5024,'UniProt Function',NULL,6199,NULL,'Isoform 3: Negatively regulates NK cell- and CD8+ T cell-mediated cytotoxicity (PubMed:11290782). Likely do not bind B2M and present peptides (Probable).',NULL,NULL,NULL,NULL,NULL),(5025,'UniProt Function',NULL,6199,NULL,'Isoform 4: Negatively regulates NK cell- and CD8+ T cell-mediated cytotoxicity (PubMed:11290782). Likely do not bind B2M and present peptides (Probable).',NULL,NULL,NULL,NULL,NULL),(5026,'UniProt Function',NULL,6199,NULL,'Isoform 5: Non-classical major histocompatibility class Ib molecule involved in immune regulatory processes at the maternal-fetal interface (PubMed:23184984, PubMed:29262349, PubMed:19304799). In complex with B2M/beta-2 microglobulin binds a limited repertoire of nonamer self-peptides derived from intracellular proteins including histones and ribosomal proteins (PubMed:7584149, PubMed:8805247). Peptide-bound HLA-G-B2M complex acts as a ligand for inhibitory/activating KIR2DL4, LILRB1 and LILRB2 receptors on uterine immune cells to promote fetal development while maintaining maternal-fetal tolerance (PubMed:23184984, PubMed:29262349, PubMed:16366734, PubMed:19304799, PubMed:20448110). Upon interaction with KIR2DL4 and LILRB1 receptors on decidual NK cells, it triggers NK cell senescence-associated secretory phenotype as a molecular switch to promote vascular remodeling and fetal growth in early pregnancy (PubMed:23184984, PubMed:29262349, PubMed:16366734, PubMed:19304799). Through interaction with KIR2DL4 receptor on decidual macrophages induces proinflammatory cytokine production mainly associated with tissue remodeling (PubMed:19304799). Through interaction with LILRB2 receptor triggers differentiation of type 1 regulatory T cells and myeloid-derived suppressor cells, both of which actively maintain maternal-fetal tolerance (PubMed:20448110). Reprograms B cells toward an immune suppressive phenotype via LILRB1 (PubMed:24453251).',NULL,NULL,NULL,NULL,NULL),(5027,'UniProt Function',NULL,6199,NULL,'Isoform 6: Physiological function remains unknown. Likely do not bind B2M and present peptides.',NULL,NULL,NULL,NULL,NULL),(5028,'UniProt Function',NULL,6199,NULL,'Isoform 7: Physiological function remains unknown. Likely do not bind B2M and present peptides.',NULL,NULL,NULL,NULL,NULL),(5029,'UniProt Function',NULL,6200,NULL,'Catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein, resulting in the release of the fragment from the ER membrane into the cytoplasm. Required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides (PubMed:11714810). May be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein (PubMed:12145199). Involved in the intramembrane cleavage of the integral membrane protein PSEN1 (PubMed:12077416, PubMed:11714810, PubMed:14741365). Cleaves the integral membrane protein XBP1 isoform 1 in a DERL1/RNF139-dependent manner (PubMed:25239945). May play a role in graft rejection (By similarity).',NULL,NULL,NULL,NULL,NULL),(5030,'UniProt Function',NULL,6201,NULL,'Plays a role in neuronal differentiation as chromatin-associated protein. Acts as inhibitor of HMG20B. Overcomes the repressive effects of the neuronal silencer REST and induces the activation of neuronal-specific genes. Involved in the recruitment of the histone methyltransferase KMT2A/MLL1 and consequent increased methylation of histone H3 lysine 4 (By similarity).',NULL,NULL,NULL,NULL,NULL),(5031,'UniProt Function',NULL,6202,NULL,'Required for correct progression through G2 phase of the cell cycle and entry into mitosis. Required for RCOR1/CoREST mediated repression of neuronal specific gene promoters.',NULL,NULL,NULL,NULL,NULL),(5032,'UniProt Function',NULL,6203,NULL,'This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.',NULL,NULL,NULL,NULL,NULL),(5033,'UniProt Function',NULL,6206,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(5034,'UniProt Function',NULL,6207,NULL,'Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA.',NULL,NULL,NULL,NULL,NULL),(5035,'UniProt Function',NULL,6208,NULL,'Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May play a role in the assembly of respiratory supercomplexes.',NULL,NULL,NULL,NULL,NULL),(5036,'UniProt Function',NULL,6210,NULL,'Has an antimicrobial activity.',NULL,NULL,NULL,NULL,NULL),(5037,'UniProt Function',NULL,6211,NULL,'J region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5038,'UniProt Function',NULL,6212,NULL,'Transcription factor required for TBX21/T-bet-dependent maturation of Th1 cells as well as maintenance of Th1-specific gene expression. Involved in embryogenesis and hematopoiesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5039,'UniProt Function',NULL,6213,NULL,'Binds heme and transports it to the liver for breakdown and iron recovery, after which the free hemopexin returns to the circulation.',NULL,NULL,NULL,NULL,NULL),(5040,'UniProt Function',NULL,6216,NULL,'Centromeric protein that plays a central role in the incorporation and maintenance of histone H3-like variant CENPA at centromeres. Acts as a specific chaperone for CENPA and is required for the incorporation of newly synthesized CENPA molecules into nucleosomes at replicated centromeres. Prevents CENPA-H4 tetramerization and prevents premature DNA binding by the CENPA-H4 tetramer. Directly binds Holliday junctions.',NULL,NULL,NULL,NULL,NULL),(5041,'UniProt Function',NULL,6217,NULL,'Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism.',NULL,NULL,NULL,NULL,NULL),(5042,'UniProt Function',NULL,6218,NULL,'Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells, suggesting that it acts as a specific reader of 5hmC in stem cells (By similarity). May act as a peptidase; experimental evidences are however required to confirm this prediction (PubMed:23945014).',NULL,NULL,NULL,NULL,NULL),(5043,'UniProt Function',NULL,6221,NULL,'Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5\'-GTTAATNATTAAC-3\'.',NULL,NULL,NULL,NULL,NULL),(5044,'UniProt Function',NULL,6222,NULL,'Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoform 1 regulates the trafficking and surface expression of GRM5. Isoform 3 acts as a natural dominant negative, in dynamic competition with constitutively expressed isoform 1 to regulate synaptic metabotropic glutamate function. Isoform 3, may be involved in the structural changes that occur at synapses during long-lasting neuronal plasticity and development. Forms a high-order complex with SHANK1, which in turn is necessary for the structural and functional integrity of dendritic spines (By similarity).',NULL,NULL,NULL,NULL,NULL),(5045,'UniProt Function',NULL,6223,NULL,'Has hexosaminidase activity. Responsible for the cleavage of the monosaccharides N-acetylglucosamine (GlcNAc) and N-acetylgalactosamine (GalNAc) from cellular substrates. Has a preference for galactosaminide over glucosaminide substrates (PubMed:27149221).',NULL,NULL,NULL,NULL,NULL),(5046,'UniProt Function',NULL,6224,NULL,'Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization.',NULL,NULL,NULL,NULL,NULL),(5047,'UniProt Function',NULL,6225,NULL,'Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family.',NULL,NULL,NULL,NULL,NULL),(5048,'UniProt Function',NULL,6226,NULL,'Negatively regulates N-terminal palmitoylation of SHH by HHAT/SKN.',NULL,NULL,NULL,NULL,NULL),(5049,'UniProt Function',NULL,6228,NULL,'Has both helicase and E3 ubiquitin ligase activities. Possesses intrinsic ATP-dependent nucleosome-remodeling activity; This activity may be required for transcriptional activation or repression of specific target promoters (By similarity). These may include the SERPINE1 and HIV-1 promoters and the SV40 enhancer, to which this protein can bind directly. Plays a role in error-free postreplication repair (PRR) of damaged DNA and maintains genomic stability through acting as a ubiquitin ligase for \'Lys-63\'-linked polyubiquitination of chromatin-bound PCNA.',NULL,NULL,NULL,NULL,NULL),(5050,'UniProt Function',NULL,6229,NULL,'Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins.',NULL,NULL,NULL,NULL,NULL),(5051,'UniProt Function',NULL,6230,NULL,'Receptor for metastin (kisspeptin-54 or kp-54), a C-terminally amidated peptide of KiSS1. KiSS1 is a metastasis suppressor protein that suppresses metastases in malignant melanomas and in some breast carcinomas without affecting tumorigenicity. The metastasis suppressor properties may be mediated in part by cell cycle arrest and induction of apoptosis in malignant cells. The receptor is essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/KISS1R system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood. The receptor is also probably involved in the regulation and fine-tuning of trophoblast invasion generated by the trophoblast itself. Analysis of the transduction pathways activated by the receptor identifies coupling to phospholipase C and intracellular calcium release through pertussis toxin-insensitive G(q) proteins.',NULL,NULL,NULL,NULL,NULL),(5052,'UniProt Function',NULL,6231,NULL,'Involved in oxygen transport from the lung to the various peripheral tissues.',NULL,NULL,NULL,NULL,NULL),(5053,'UniProt Function',NULL,6232,NULL,'Originally identified as neuronal protein that specifically associates with HTT/huntingtin and the binding is enhanced by an expanded polyglutamine repeat within HTT possibly affecting HAP1 interaction properties. Both HTT and HAP1 are involved in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via association with microtubule-dependent transporters can be attenuated by association with mutant HTT. Involved in the axonal transport of BDNF and its activity-dependent secretion; the function seems to involve HTT, DCTN1 and a complex with SORT1. Involved in APP trafficking and seems to facilitate APP anterograde transport and membrane insertion thereby possibly reducing processing into amyloid beta. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptors to synapses; the function is dependent on kinesin motor protein KIF5 and is disrupted by HTT with expanded polyglutamine repeat. Involved in regulation of autophagosome motility by promoting efficient retrograde axonal transport. Seems to be involved in regulation of membrane receptor recycling and degradation, and respective signal transduction, including GABA(A) receptors, tyrosine kinase receptors, EGFR, IP3 receptor and androgen receptor. Among others suggested to be involved in control of feeding behavior (involving hypothalamic GABA(A) receptors), cerebellar and brainstem development (involving AHI1 and NTRK1/TrkA), postnatal neurogenesis (involving hypothalamic NTRK2/TrkB), and ITPR1/InsP3R1-mediated Ca(2+) release (involving HTT and possibly the effect of mutant HTT). Via association with DCTN1/dynactin p150-glued and HTT/huntingtin involved in cytoplasmic retention of REST in neurons. May be involved in ciliogenesis. Involved in regulation of exocytosis. Seems to be involved in formation of cytoplasmic inclusion bodies (STBs). In case of anomalous expression of TBP, can sequester a subset of TBP into STBs; sequestration is enhanced by an expanded polyglutamine repeat within TBP. HAP1-containing STBs have been proposed to play a protective role against neurodegeneration in Huntigton disease (HD) and spinocerebellar ataxia 17 (SCA17).',NULL,NULL,NULL,NULL,NULL),(5054,'UniProt Function',NULL,6233,NULL,'Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.',NULL,NULL,NULL,NULL,NULL),(5055,'UniProt Function',NULL,6234,NULL,'Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.',NULL,NULL,NULL,NULL,NULL),(5056,'UniProt Function',NULL,6237,NULL,'Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(5057,'UniProt Function',NULL,6238,NULL,'D region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5058,'UniProt Function',NULL,6239,NULL,'Transmembrane adapter protein which associates with KLRK1 to form an activation receptor KLRK1-HCST in lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells expressing cell surface ligands such as MHC class I chain-related MICA and MICB, and UL16-binding proteins (ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and tumor transformation. Functions as docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with KLRK1-HCST triggers calcium mobilization and activation of the PIK3R1, MAP2K/ERK, and JAK2/STAT5 signaling pathways. Both PIK3R1 and GRB2 are required for full KLRK1-HCST-mediated activation and ultimate killing of target cells. In NK cells, KLRK1-HCST signaling directly induces cytotoxicity and enhances cytokine production initiated via DAP12/TYROBP-associated receptors. In T-cells, it provides primarily costimulation for TCR-induced signals. KLRK1-HCST receptor plays a role in immune surveillance against tumors and is required for cytolysis of tumors cells; indeed, melanoma cells that do not express KLRK1 ligands escape from immune surveillance mediated by NK cells.',NULL,NULL,NULL,NULL,NULL),(5059,'UniProt Function',NULL,6240,NULL,'Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer factors such as MEF2A, MEF2B and MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors (By similarity). May be involved in Epstein-Barr virus (EBV) latency, possibly by repressing the viral BZLF1 gene. Positively regulates the transcriptional repressor activity of FOXP3 (PubMed:17360565).',NULL,NULL,NULL,NULL,NULL),(5060,'UniProt Function',NULL,6242,NULL,'Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.',NULL,NULL,NULL,NULL,NULL),(5061,'UniProt Function',NULL,6244,NULL,'May be involved in meiotic recombination process.',NULL,NULL,NULL,NULL,NULL),(5062,'UniProt Function',NULL,6245,NULL,'Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Represses MEF2-dependent transcription.',NULL,NULL,NULL,NULL,NULL),(5063,'UniProt Function',NULL,6245,NULL,'Isoform 3 lacks active site residues and therefore is catalytically inactive. Represses MEF2-dependent transcription by recruiting HDAC1 and/or HDAC3. Seems to inhibit skeletal myogenesis and to be involved in heart development. Protects neurons from apoptosis, both by inhibiting JUN phosphorylation by MAPK10 and by repressing JUN transcription via HDAC1 recruitment to JUN promoter.',NULL,NULL,NULL,NULL,NULL),(5064,'UniProt Function',NULL,6246,NULL,'Confers strong transcriptional repression to the AP-2-alpha gene. Binds to a regulatory element (A32) in the AP-2-alpha gene promoter.',NULL,NULL,NULL,NULL,NULL),(5065,'UniProt Function',NULL,6247,NULL,'Represses transcription by binding to the BTE site, a GC-rich DNA element, in competition with the activator SP1. It also represses transcription by interacting with the corepressor Sin3A and HDAC1. Activates RANTES expression in T-cells.',NULL,NULL,NULL,NULL,NULL),(5066,'UniProt Function',NULL,6248,NULL,'Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Forms transcriptional repressor complexes by associating with MAD, SIN3, YY1 and N-COR. Interacts in the late S-phase of DNA-replication with DNMT1 in the other transcriptional repressor complex composed of DNMT1, DMAP1, PCNA, CAF1. Deacetylates TSHZ3 and regulates its transcriptional repressor activity. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. May be involved in the transcriptional repression of circadian target genes, such as PER1, mediated by CRY1 through histone deacetylation. Involved in MTA1-mediated transcriptional corepression of TFF1 and CDKN1A.',NULL,NULL,NULL,NULL,NULL),(5067,'UniProt Function',NULL,6249,NULL,'Regulates the proliferation and differentiation of hematopoietic cells. Overexpression block the TPA-induced megakaryocytic differentiation in the K562 cell model. May also prevent cell apoptosis through the activation of the nuclear factor-kappa B (NF-kB).',NULL,NULL,NULL,NULL,NULL),(5068,'UniProt Function',NULL,6250,NULL,'Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma. Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocytes and other cells, and mobilization of stored iron from hepatocytes (PubMed:22306005).',NULL,NULL,NULL,NULL,NULL),(5069,'UniProt Function',NULL,6250,NULL,'Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against S.epidermidis, S.aureus and group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa (PubMed:11113131, PubMed:11034317).',NULL,NULL,NULL,NULL,NULL),(5070,'UniProt Function',NULL,6251,NULL,'May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system.',NULL,NULL,NULL,NULL,NULL),(5071,'UniProt Function',NULL,6253,NULL,'Serine protease that cleaves extracellular substrates, and contributes to the proteolytic processing of growth factors, such as HGF and MST1/HGFL (PubMed:21875933, PubMed:15839837). Plays a role in cell growth and maintenance of cell morphology (PubMed:8346233, PubMed:21875933). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Mediates the proteolytic cleavage of urinary UMOD that is required for UMOD polymerization (PubMed:26673890).',NULL,NULL,NULL,NULL,NULL),(5072,'UniProt Function',NULL,6254,NULL,'Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor. In cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation.',NULL,NULL,NULL,NULL,NULL),(5073,'UniProt Function',NULL,6255,NULL,'Histone demethylase that specifically demethylates both mono- and dimethylated \'Lys-9\' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle.',NULL,NULL,NULL,NULL,NULL),(5074,'UniProt Function',NULL,6259,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance activation of transcription by TP73 (PubMed:12890487). Involved in the regulation of mitotic metaphase/anaphase transition (PubMed:24163370).',NULL,NULL,NULL,NULL,NULL),(5075,'UniProt Function',NULL,6263,NULL,'Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(5076,'UniProt Function',NULL,6264,NULL,'Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5077,'UniProt Function',NULL,6265,NULL,'Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, such as NPTXR, leading most often to their proteasomal degradation (By similarity). Responsible for degradative ubiquitination of the WNK kinases WNK1, WNK3 and WNK4. Plays a role in the reorganization of the actin cytoskeleton. Promotes growth of cell projections in oligodendrocyte precursors.',NULL,NULL,NULL,NULL,NULL),(5078,'UniProt Function',NULL,6266,NULL,'Helicase that acts as a transcriptional coactivator for a number of nuclear receptors including PPARA, PPARG, THRA, THRB and RXRA.',NULL,NULL,NULL,NULL,NULL),(5079,'UniProt Function',NULL,6267,NULL,'Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme).',NULL,NULL,NULL,NULL,NULL),(5080,'UniProt Function',NULL,6268,NULL,'N5-glutamine methyltransferase responsible for the methylation of the GGQ triplet of the mitochondrial translation release factor MTRF1L.',NULL,NULL,NULL,NULL,NULL),(5081,'UniProt Function',NULL,6269,NULL,'May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system.',NULL,NULL,NULL,NULL,NULL),(5082,'UniProt Function',NULL,6270,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(5083,'UniProt Function',NULL,6272,NULL,'May play a role in T-helper cell development and the regulation of asthma and allergic diseases. Receptor for TIMD4 (By similarity). May play a role in kidney injury and repair.',NULL,NULL,NULL,NULL,NULL),(5084,'UniProt Function',NULL,6272,NULL,'(Microbial infection) Acts as a receptor for Hepatitis A virus.',NULL,NULL,NULL,NULL,NULL),(5085,'UniProt Function',NULL,6272,NULL,'(Microbial infection) Acts as a receptor for Ebolavirus and Marburg virus by binding exposed phosphatidyl-serine at the surface of virion membrane.',NULL,NULL,NULL,NULL,NULL),(5086,'UniProt Function',NULL,6272,NULL,'(Microbial infection) Acts as a receptor for Dengue virus by binding exposed phosphatidyl-serine at the surface of virion membrane.',NULL,NULL,NULL,NULL,NULL),(5087,'UniProt Function',NULL,6273,NULL,'Cell surface receptor implicated in modulating innate and adaptive immune responses. Generally accepted to have an inhibiting function. Reports on stimulating functions suggest that the activity may be influenced by the cellular context and/or the respective ligand (PubMed:24825777). Regulates macrophage activation (PubMed:11823861). Inhibits T-helper type 1 lymphocyte (Th1)-mediated auto- and alloimmune responses and promotes immunological tolerance (PubMed:14556005). In CD8+ cells attenuates TCR-induced signaling, specifically by blocking NF-kappaB and NFAT promoter activities resulting in the loss of IL-2 secretion. The function may implicate its association with LCK proposed to impair phosphorylation of TCR subunits, and/or LGALS9-dependent recruitment of PTPRC to the immunological synapse (PubMed:24337741, PubMed:26492563). In contrast, shown to activate TCR-induced signaling in T-cells probably implicating ZAP70, LCP2, LCK and FYN (By similarity). Expressed on Treg cells can inhibit Th17 cell responses (PubMed:24838857). Receptor for LGALS9 (PubMed:16286920, PubMed:24337741). Binding to LGALS9 is believed to result in suppression of T-cell responses; the resulting apoptosis of antigen-specific cells may implicate HAVCR2 phosphorylation and disruption of its association with BAG6. Binding to LGALS9 is proposed to be involved in innate immune response to intracellular pathogens. Expressed on Th1 cells interacts with LGALS9 expressed on Mycobacterium tuberculosis-infected macrophages to stimulate antibactericidal activity including IL-1 beta secretion and to restrict intracellular bacterial growth (By similarity). However, the function as receptor for LGALS9 has been challenged (PubMed:23555261). Also reported to enhance CD8+ T-cell responses to an acute infection such as by Listeria monocytogenes (By similarity). Receptor for phosphatidylserine (PtSer); PtSer-binding is calcium-dependent. May recognize PtSer on apoptotic cells leading to their phagocytosis. Mediates the engulfment of apoptotic cells by dendritic cells. Expressed on T-cells, promotes conjugation but not engulfment of apoptotic cells. Expressed on dendritic cells (DCs) positively regulates innate immune response and in synergy with Toll-like receptors promotes secretion of TNF-alpha. In tumor-imfiltrating DCs suppresses nucleic acid-mediated innate immune repsonse by interaction with HMGB1 and interfering with nucleic acid-sensing and trafficking of nucleid acids to endosomes (By similarity). Expressed on natural killer (NK) cells acts as a coreceptor to enhance IFN-gamma production in response to LGALS9 (PubMed:22323453). In contrast, shown to suppress NK cell-mediated cytotoxicity (PubMed:22383801). Negatively regulates NK cell function in LPS-induced endotoxic shock (By similarity).',NULL,NULL,NULL,NULL,NULL),(5088,'UniProt Function',NULL,6274,NULL,'Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds the DNA sequence 5\'-NRTCTG-3\' (non-canonical E-box) (By similarity).',NULL,NULL,NULL,NULL,NULL),(5089,'UniProt Function',NULL,6275,NULL,'Cleaves the alpha-chain at multiple sites and the beta-chain between \'Lys-53\' and \'Lys-54\' but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and does not cause the fibrinolysis directly. It does not cleave (activate) prothrombin and plasminogen but converts the inactive single chain urinary plasminogen activator (pro-urokinase) to the active two chain form. Activates coagulation factor VII (PubMed:8827452, PubMed:10754382, PubMed:11217080). May function as a tumor suppressor negatively regulating cell proliferation and cell migration (PubMed:26222560).',NULL,NULL,NULL,NULL,NULL),(5090,'UniProt Function',NULL,6276,NULL,'Recognizes the DNA sequence 5\'-ATTAA-3\'. Transcriptional repressor. May play a role in hematopoietic differentiation. Establishes anterior identity at two levels; acts early to enhance canonical WNT-signaling by repressing expression of TLE4, and acts later to inhibit NODAL-signaling by directly targeting NODAL (By similarity).',NULL,NULL,NULL,NULL,NULL),(5091,'UniProt Function',NULL,6277,NULL,'Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.',NULL,NULL,NULL,NULL,NULL),(5092,'UniProt Function',NULL,6281,NULL,'Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:15302677, PubMed:16144831, PubMed:23895467, PubMed:25445488). Channel opening is also triggered by taurine and beta-alanine (PubMed:15302677). Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Plays a role in cellular responses to ethanol (PubMed:23895467).',NULL,NULL,NULL,NULL,NULL),(5093,'UniProt Function',NULL,6282,NULL,'Accelerates the intermembrane transfer of various glycolipids. Catalyzes the transfer of various glycosphingolipids between membranes but does not catalyze the transfer of phospholipids. May be involved in the intracellular translocation of glucosylceramides.',NULL,NULL,NULL,NULL,NULL),(5094,'UniProt Function',NULL,6283,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis in digestive organs.',NULL,NULL,NULL,NULL,NULL),(5095,'UniProt Function',NULL,6284,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.',NULL,NULL,NULL,NULL,NULL),(5096,'UniProt Function',NULL,6285,NULL,'May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.',NULL,NULL,NULL,NULL,NULL),(5097,'UniProt Function',NULL,6286,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5098,'UniProt Function',NULL,6287,NULL,'Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complexes. Involved in endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Able to recognize and bind denatured glycoproteins, which are modified with not only high-mannose but also complex-type oligosaccharides. Also recognizes sulfated glycans. Also involved in DNA damage response by specifically recognizing activated CHEK1 (phosphorylated on \'Ser-345\'), promoting its ubiquitination and degradation. Ubiquitination of CHEK1 is required to insure that activated CHEK1 does not accumulate as cells progress through S phase, or when replication forks encounter transient impediments during normal DNA replication.',NULL,NULL,NULL,NULL,NULL),(5099,'UniProt Function',NULL,6288,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5100,'UniProt Function',NULL,6289,NULL,'May promote guanine-nucleotide exchange on an ARF. Promotes the activation of ARF through replacement of GDP with GTP (Potential).',NULL,NULL,NULL,NULL,NULL),(5101,'UniProt Function',NULL,6291,NULL,'Tyrosine-protein kinase that acts downstream of cell surface receptors for growth factors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, lamellipodia formation, cell adhesion, cell migration and chemotaxis. Acts downstream of EGFR, KIT, PDGFRA and PDGFRB. Acts downstream of EGFR to promote activation of NF-kappa-B and cell proliferation. May play a role in the regulation of the mitotic cell cycle. Plays a role in the insulin receptor signaling pathway and in activation of phosphatidylinositol 3-kinase. Acts downstream of the activated FCER1 receptor and plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Plays a role in the regulation of mast cell degranulation. Plays a role in leukocyte recruitment and diapedesis in response to bacterial lipopolysaccharide (LPS). Plays a role in synapse organization, trafficking of synaptic vesicles, the generation of excitatory postsynaptic currents and neuron-neuron synaptic transmission. Plays a role in neuronal cell death after brain damage. Phosphorylates CTTN, CTNND1, PTK2/FAK1, GAB1, PECAM1 and PTPN11. May phosphorylate JUP and PTPN1. Can phosphorylate STAT3, but the biological relevance of this depends on cell type and stimulus.',NULL,NULL,NULL,NULL,NULL),(5102,'UniProt Function',NULL,6292,NULL,'Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system (PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111).',NULL,NULL,NULL,NULL,NULL),(5103,'UniProt Function',NULL,6293,NULL,'May have an involvement in muscle development or hypertrophy.',NULL,NULL,NULL,NULL,NULL),(5104,'UniProt Function',NULL,6294,NULL,'The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.',NULL,NULL,NULL,NULL,NULL),(5105,'UniProt Function',NULL,6295,NULL,'Acts as a ligand for FGFR1, FGFR2, FGFR3 and FGFR4 (PubMed:8663044). Also acts as an integrin ligand which is required for FGF2 signaling (PubMed:28302677). Binds to integrin ITGAV:ITGB3 (PubMed:28302677). Plays an important role in the regulation of cell survival, cell division, cell differentiation and cell migration (PubMed:8663044, PubMed:28302677). Functions as a potent mitogen in vitro (PubMed:3732516, PubMed:3964259). Can induce angiogenesis (PubMed:23469107, PubMed:28302677).',NULL,NULL,NULL,NULL,NULL),(5106,'UniProt Function',NULL,6296,NULL,'PPIases accelerate the folding of proteins during protein synthesis.',NULL,NULL,NULL,NULL,NULL),(5107,'UniProt Function',NULL,6298,NULL,'By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A.',NULL,NULL,NULL,NULL,NULL),(5108,'UniProt Function',NULL,6299,NULL,'In contrast with other forms of FMO it does not seem to be a drug-metabolizing enzyme.',NULL,NULL,NULL,NULL,NULL),(5109,'UniProt Function',NULL,6300,NULL,'Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of a subset of mRNAs (PubMed:16631377, PubMed:18653529, PubMed:19166269, PubMed:23235829, PubMed:25464849). Plays a role in the alternative splicing of its own mRNA (PubMed:18653529). Plays a role in mRNA nuclear export (By similarity). Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (By similarity). Stabilizes the scaffolding postsynaptic density protein DLG4/PSD-95 and the myelin basic protein (MBP) mRNAs in hippocampal neurons and glial cells, respectively; this stabilization is further increased in response to metabotropic glutamate receptor (mGluR) stimulation (By similarity). Plays a role in selective delivery of a subset of dendritic mRNAs to synaptic sites in response to mGluR activation in a kinesin-dependent manner (By similarity). Plays a role as a repressor of mRNA translation during the transport of dendritic mRNAs to postnyaptic dendritic spines (PubMed:11532944, PubMed:11157796, PubMed:12594214, PubMed:23235829). Component of the CYFIP1-EIF4E-FMR1 complex which blocks cap-dependent mRNA translation initiation (By similarity). Represses mRNA translation by stalling ribosomal translocation during elongation (By similarity). Reports are contradictory with regards to its ability to mediate translation inhibition of MBP mRNA in oligodendrocytes (PubMed:23891804). Also involved in the recruitment of the RNA helicase MOV10 to a subset of mRNAs and hence regulates microRNA (miRNA)-mediated translational repression by AGO2 (PubMed:14703574, PubMed:17057366, PubMed:25464849). Facilitates the assembly of miRNAs on specific target mRNAs (PubMed:17057366). Plays also a role as an activator of mRNA translation of a subset of dendritic mRNAs at synapses (PubMed:19097999, PubMed:19166269). In response to mGluR stimulation, FMR1-target mRNAs are rapidly derepressed, allowing for local translation at synapses (By similarity). Binds to a large subset of dendritic mRNAs that encode a myriad of proteins involved in pre- and postsynaptic functions (PubMed:7692601, PubMed:11719189, PubMed:11157796, PubMed:12594214, PubMed:17417632, PubMed:23235829, PubMed:24448548). Binds to 5\'-ACU[GU]-3\' and/or 5\'-[AU]GGA-3\' RNA consensus sequences within mRNA targets, mainly at coding sequence (CDS) and 3\'-untranslated region (UTR) and less frequently at 5\'-UTR (PubMed:23235829). Binds to intramolecular G-quadruplex structures in the 5\'- or 3\'-UTRs of mRNA targets (PubMed:11719189, PubMed:18579868, PubMed:25464849, PubMed:25692235). Binds to G-quadruplex structures in the 3\'-UTR of its own mRNA (PubMed:7692601, PubMed:11532944, PubMed:12594214, PubMed:15282548, PubMed:18653529). Binds also to RNA ligands harboring a kissing complex (kc) structure; this binding may mediate the association of FMR1 with polyribosomes (PubMed:15805463). Binds mRNAs containing U-rich target sequences (PubMed:12927206). Binds to a triple stem-loop RNA structure, called Sod1 stem loop interacting with FMRP (SoSLIP), in the 5\'-UTR region of superoxide dismutase SOD1 mRNA (PubMed:19166269). Binds to the dendritic, small non-coding brain cytoplasmic RNA 1 (BC1); which may increase the association of the CYFIP1-EIF4E-FMR1 complex to FMR1 target mRNAs at synapses (By similarity). Associates with export factor NXF1 mRNA-containing ribonucleoprotein particles (mRNPs) in a NXF2-dependent manner (By similarity). Binds to a subset of miRNAs in the brain (PubMed:14703574, PubMed:17057366). May associate with nascent transcripts in a nuclear protein NXF1-dependent manner (PubMed:18936162). In vitro, binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:7688265, PubMed:7781595, PubMed:12950170, PubMed:15381419, PubMed:8156595). Moreover, plays a role in the modulation of the sodium-activated potassium channel KCNT1 gating activity (PubMed:20512134). Negatively regulates the voltage-dependent calcium channel current density in soma and presynaptic terminals of dorsal root ganglion (DRG) neurons, and hence regulates synaptic vesicle exocytosis (By similarity). Modulates the voltage-dependent calcium channel CACNA1B expression at the plasma membrane by targeting the channels for proteosomal degradation (By similarity). Plays a role in regulation of MAP1B-dependent microtubule dynamics during neuronal development (By similarity). Recently, has been shown to play a translation-independent role in the modulation of presynaptic action potential (AP) duration and neurotransmitter release via large-conductance calcium-activated potassium (BK) channels in hippocampal and cortical excitatory neurons (PubMed:25561520). Finally, FMR1 may be involved in the control of DNA damage response (DDR) mechanisms through the regulation of ATR-dependent signaling pathways such as histone H2AFX/H2A.x and BRCA1 phosphorylations (PubMed:24813610).',NULL,NULL,NULL,NULL,NULL),(5110,'UniProt Function',NULL,6300,NULL,'Isoform 10: binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304).',NULL,NULL,NULL,NULL,NULL),(5111,'UniProt Function',NULL,6300,NULL,'Isoform 6: binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304).',NULL,NULL,NULL,NULL,NULL),(5112,'UniProt Function',NULL,6300,NULL,'(Microbial infection) Acts as a positive regulator of influenza A virus (IAV) replication. Required for the assembly and nuclear export of the viral ribonucleoprotein (vRNP) components.',NULL,NULL,NULL,NULL,NULL),(5113,'UniProt Function',NULL,6301,NULL,'Essential subunit of the farnesyltransferase complex. Catalyzes the transfer of a farnesyl moiety from farnesyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X.',NULL,NULL,NULL,NULL,NULL),(5114,'UniProt Function',NULL,6302,NULL,'FosB interacts with Jun proteins enhancing their DNA binding activity.',NULL,NULL,NULL,NULL,NULL),(5115,'UniProt Function',NULL,6303,NULL,'Catalyzes the formation of GDP-L-fucose from GTP and L-fucose-1-phosphate. Functions as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids.',NULL,NULL,NULL,NULL,NULL),(5116,'UniProt Function',NULL,6304,NULL,'Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells. Promotes phosphorylation of SHC1 and AKT1, and activation of the downstream effector MTOR. Promotes activation of RAS signaling and phosphorylation of downstream kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation of FES, FER, PTPN6/SHP, PTPN11/SHP-2, PLCG1, and STAT5A and/or STAT5B. Activation of wild-type FLT3 causes only marginal activation of STAT5A or STAT5B. Mutations that cause constitutive kinase activity promote cell proliferation and resistance to apoptosis via the activation of multiple signaling pathways.',NULL,NULL,NULL,NULL,NULL),(5117,'UniProt Function',NULL,6305,NULL,'Acts as a regulator of cilium basal body docking and positioning in mono- and multiciliated cells. Regulates basal body docking and cilia formation in multiciliated lung cells. Regulates kinocilium positioning and stereocilia bundle morphogenesis in the inner ear.',NULL,NULL,NULL,NULL,NULL),(5118,'UniProt Function',NULL,6308,NULL,'Probable transcription activator for a number of lung-specific genes.',NULL,NULL,NULL,NULL,NULL),(5119,'UniProt Function',NULL,6309,NULL,'Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity).',NULL,NULL,NULL,NULL,NULL),(5120,'UniProt Function',NULL,6310,NULL,'Transcriptional repressor that suppresses transcription from the FASLG, FOXO3 and FOXO4 promoters. May have a role in the organization of the testicular vasculature (By similarity).',NULL,NULL,NULL,NULL,NULL),(5121,'UniProt Function',NULL,6311,NULL,'G protein-coupled receptor for follitropin, the follicle-stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546). Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways (PubMed:24058690).',NULL,NULL,NULL,NULL,NULL),(5122,'UniProt Function',NULL,6313,NULL,'Transcriptional repressor that down-regulates the expression of the fibrinogen gamma chain. Represses transcription of GSK3B gene promoter via its interaction with APBA1.',NULL,NULL,NULL,NULL,NULL),(5123,'UniProt Function',NULL,6314,NULL,'Ubiquitous endoprotease within constitutive secretory pathways capable of cleavage at the RX(K/R)R consensus motif (PubMed:11799113, PubMed:1629222, PubMed:1713771, PubMed:2251280, PubMed:24666235, PubMed:25974265, PubMed:7592877, PubMed:7690548, PubMed:9130696). Mediates processing of TGFB1, an essential step in TGF-beta-1 activation (PubMed:7737999).',NULL,NULL,NULL,NULL,NULL),(5124,'UniProt Function',NULL,6314,NULL,'(Microbial infection) Probably cleaves and activates anthrax and diphtheria toxins.',NULL,NULL,NULL,NULL,NULL),(5125,'UniProt Function',NULL,6314,NULL,'(Microbial infection) Required for H7N1 and H5N1 influenza virus infection probably by cleaving hemagglutinin.',NULL,NULL,NULL,NULL,NULL),(5126,'UniProt Function',NULL,6316,NULL,'Probable fucosyltransferase.',NULL,NULL,NULL,NULL,NULL),(5127,'UniProt Function',NULL,6317,NULL,'Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:20858599, PubMed:25678554). Involved in mid-late stages of complex I assembly (PubMed:25678554).',NULL,NULL,NULL,NULL,NULL),(5128,'UniProt Function',NULL,6318,NULL,'Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint: its dephosphorylation and reassociation with the APC/C leads to the ubiquitination of PLK1, preventing entry into mitosis. Acts as an adapter for APC/C to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, may play a role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:25349192).',NULL,NULL,NULL,NULL,NULL),(5129,'UniProt Function',NULL,6319,NULL,'Involved in down-regulation of E-cadherin which results in reduced cell adhesion. Promotes metastasis.',NULL,NULL,NULL,NULL,NULL),(5130,'UniProt Function',NULL,6320,NULL,'Receptor for Wnt proteins (PubMed:9054360, PubMed:10097073, PubMed:20530549). Can activate WNT2, WNT10B, WNT5A, but not WNT2B or WNT4 (in vitro); the in vivo situation may be different since not all of these are known to be coexpressed (By similarity). In neurons, activation of WNT7A promotes formation of synapses (PubMed:20530549). Functions in the canonical Wnt/beta-catenin signaling pathway. The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable). Plays a role in yolk sac angiogenesis and in placental vascularization (By similarity).',NULL,NULL,NULL,NULL,NULL),(5131,'UniProt Function',NULL,6321,NULL,'Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function.',NULL,NULL,NULL,NULL,NULL),(5132,'UniProt Function',NULL,6322,NULL,'Has both glyceraldehyde-3-phosphate dehydrogenase and nitrosylase activities, thereby playing a role in glycolysis and nuclear functions, respectively. Participates in nuclear events including transcription, RNA transport, DNA replication and apoptosis. Nuclear functions are probably due to the nitrosylase activity that mediates cysteine S-nitrosylation of nuclear target proteins such as SIRT1, HDAC2 and PRKDC. Modulates the organization and assembly of the cytoskeleton. Facilitates the CHP1-dependent microtubule and membrane associations through its ability to stimulate the binding of CHP1 to microtubules (By similarity). Glyceraldehyde-3-phosphate dehydrogenase is a key enzyme in glycolysis that catalyzes the first step of the pathway by converting D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma treatment assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3\'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation.',NULL,NULL,NULL,NULL,NULL),(5133,'UniProt Function',NULL,6323,NULL,'May function as transcription factor capable of interacting with purine rich repeats (GA repeats).',NULL,NULL,NULL,NULL,NULL),(5134,'UniProt Function',NULL,6324,NULL,'Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK.',NULL,NULL,NULL,NULL,NULL),(5135,'UniProt Function',NULL,6329,NULL,'The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(5136,'UniProt Function',NULL,6330,NULL,'Antigen, recognized on melanoma by autologous cytolytic T-lymphocytes.',NULL,NULL,NULL,NULL,NULL),(5137,'UniProt Function',NULL,6331,NULL,'Endocrine hormone of the central and peripheral nervous systems that binds and activates the G protein-coupled receptors GALR1, GALR2, and GALR3. This small neuropeptide may regulate diverse physiologic functions including contraction of smooth muscle of the gastrointestinal and genitourinary tract, growth hormone and insulin release and adrenal secretion.',NULL,NULL,NULL,NULL,NULL),(5138,'UniProt Function',NULL,6332,NULL,'Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon.',NULL,NULL,NULL,NULL,NULL),(5139,'UniProt Function',NULL,6333,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a highest activity toward Muc7, EA2 and Muc2, with a lowest activity than GALNT2. Glycosylates \'Thr-57\' of SELPLG.',NULL,NULL,NULL,NULL,NULL),(5140,'UniProt Function',NULL,6334,NULL,'Isoform 1: Acts as an adapter protein that plays a role in intracellular signaling cascades triggered either by the cell surface activated epidermal growth factor receptor and/or cytoplasmic protein tyrosine kinases. Promotes activation of the MAPK/ERK signaling pathway. Plays a role in the regulation of cell proliferation.',NULL,NULL,NULL,NULL,NULL),(5141,'UniProt Function',NULL,6335,NULL,'Probable adapter protein that may provide a link between cell surface epidermal growth factor receptor and the MAPK/ERK signaling pathway.',NULL,NULL,NULL,NULL,NULL),(5142,'UniProt Function',NULL,6336,NULL,'Modulates lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. Targets receptors for degradation in lysosomes via its interaction with BECN2.',NULL,NULL,NULL,NULL,NULL),(5143,'UniProt Function',NULL,6337,NULL,'Specific growth arrest protein involved in growth suppression. Blocks entry to S phase. Prevents cycling of normal and transformed cells.',NULL,NULL,NULL,NULL,NULL),(5144,'UniProt Function',NULL,6338,NULL,'May play a role in regulation of a variety of G-protein coupled receptors.',NULL,NULL,NULL,NULL,NULL),(5145,'UniProt Function',NULL,6339,NULL,'May play a role in apoptosis by acting as a cell death substrate for caspases. Is cleaved during apoptosis and the cleaved form induces dramatic rearrangements of the actin cytoskeleton and potent changes in the shape of the affected cells. May be involved in the membrane ruffling process (By similarity).',NULL,NULL,NULL,NULL,NULL),(5146,'UniProt Function',NULL,6340,NULL,'Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5\'-AGATAG-3\'. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses.',NULL,NULL,NULL,NULL,NULL),(5147,'UniProt Function',NULL,6341,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(5148,'UniProt Function',NULL,6342,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Plays a role in the regulation of adenylyl cyclase signaling in certain regions of the brain. Plays a role in the formation or stabilzation of a G protein heterotrimer (G(olf) subunit alpha-beta-gamma-7) that is required for adenylyl cyclase activity in the striatum (By similarity).',NULL,NULL,NULL,NULL,NULL),(5149,'UniProt Function',NULL,6343,NULL,'Catalyzes the formation of some glycolipid via the addition of N-acetylgalactosamine (GalNAc) in alpha-1,3-linkage to some substrate. Glycolipids probably serve for adherence of some pathogens.',NULL,NULL,NULL,NULL,NULL),(5150,'UniProt Function',NULL,6344,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(5151,'UniProt Function',NULL,6345,NULL,'Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(5152,'UniProt Function',NULL,6345,NULL,'The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling.',NULL,NULL,NULL,NULL,NULL),(5153,'UniProt Function',NULL,6345,NULL,'Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling.',NULL,NULL,NULL,NULL,NULL),(5154,'UniProt Function',NULL,6346,NULL,'Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. L-692,429, MK-0677, adenosine).',NULL,NULL,NULL,NULL,NULL),(5155,'UniProt Function',NULL,6348,NULL,'Acts as a negative regulator of G1 to S cell cycle phase progression by inhibiting cyclin-dependent kinases. Inhibitory effects are additive with GADD45 proteins but occurs also in the absence of GADD45 proteins. Acts as a repressor of the orphan nuclear receptor NR4A1 by inhibiting AB domain-mediated transcriptional activity. May be involved in the hormone-mediated regulation of NR4A1 transcriptional activity. May play a role in mitochondrial protein synthesis.',NULL,NULL,NULL,NULL,NULL),(5156,'UniProt Function',NULL,6349,NULL,'Seems to be involved in the cross-linking of microtubules and microfilaments.',NULL,NULL,NULL,NULL,NULL),(5157,'UniProt Function',NULL,6350,NULL,'The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(5158,'UniProt Function',NULL,6351,NULL,'The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(5159,'UniProt Function',NULL,6352,NULL,'Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle, peaking at G1.',NULL,NULL,NULL,NULL,NULL),(5160,'UniProt Function',NULL,6353,NULL,'Isoform GANP: Essential for the generation of high-affinity B-cells against T-cell-dependent antigens by affecting somatic hypermutation at the IgV-regions. May have stimulation-dependent DNA primase activity that would generate extra RNA primers in very rapidely proliferating cells and would support clonal expansion of differentiating B-cells (By similarity). Involved in the nuclear export of poly(A)-containing mRNAs by acting as a scaffold for the TREX-2 complex. The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery.',NULL,NULL,NULL,NULL,NULL),(5161,'UniProt Function',NULL,6353,NULL,'Isoform MCM3AP: Acetyltransferase targeting MCM3. Inhibits initiation of DNA replication, but not elongation.',NULL,NULL,NULL,NULL,NULL),(5162,'UniProt Function',NULL,6354,NULL,'Receptor for gastrin and cholecystokinin. The CCK-B receptors occur throughout the central nervous system where they modulate anxiety, analgesia, arousal, and neuroleptic activity. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(5163,'UniProt Function',NULL,6354,NULL,'Isoform 2 is constitutively activated and may regulate cancer cell proliferation via a gastrin-independent mechanism.',NULL,NULL,NULL,NULL,NULL),(5164,'UniProt Function',NULL,6357,NULL,'Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hedgehog-dependent expression of Wnt4 (By similarity). Necessary to maintain the differentiated epithelial phenotype in renal cells through the inhibition of SNAI1, which itself induces the epithelial-to-mesenchymal transition (By similarity). Represses transcriptional activation mediated by CTNNB1 in the Wnt signaling pathway. May act by recruiting the corepressors CTBP1 and HDAC3. May be involved in neuron differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(5165,'UniProt Function',NULL,6359,NULL,'Binds both single-stranded and double-stranded DNA and promotes ATP-independent annealing of complementary single-stranded DNAs and D-loop formation in superhelical double-stranded DNA. May play a role in maintenance of genomic integrity.',NULL,NULL,NULL,NULL,NULL),(5166,'UniProt Function',NULL,6360,NULL,'G-protein coupled receptor (PubMed:27072655). Has been shown to bind the neuroprotective and glioprotective factor prosaposin (PSAP), leading to endocytosis followed by an ERK phosphorylation cascade (PubMed:23690594). However, other studies have shown that prosaposin does not increase activity (PubMed:27072655, PubMed:28688853). It has been suggested that GPR37L1 is a constitutively active receptor which signals through the guanine nucleotide-binding protein G(s) subunit alpha (PubMed:27072655). Participates in the regulation of postnatal cerebellar development by modulating the Shh pathway (By similarity). Regulates baseline blood pressure in females and protects against cardiovascular stress in males (By similarity). Mediates inhibition of astrocyte glutamate transporters and reduction in neuronal N-methyl-D-aspartate receptor activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(5167,'UniProt Function',NULL,6361,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5168,'UniProt Function',NULL,6362,NULL,'Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.',NULL,NULL,NULL,NULL,NULL),(5169,'UniProt Function',NULL,6363,NULL,'Cytoskeletal linker protein. May promote and stabilize the formation of the actin and microtubule network.',NULL,NULL,NULL,NULL,NULL),(5170,'UniProt Function',NULL,6364,NULL,'The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(5171,'UniProt Function',NULL,6365,NULL,'Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674).',NULL,NULL,NULL,NULL,NULL),(5172,'UniProt Function',NULL,6366,NULL,'The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(5173,'UniProt Function',NULL,6367,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates FGF23. Plays a central role in phosphate homeostasis.',NULL,NULL,NULL,NULL,NULL),(5174,'UniProt Function',NULL,6369,NULL,'Glycopeptide transferase involved in O-linked oligosaccharide biosynthesis, which catalyzes the transfer of an N-acetyl-D-galactosamine residue to an already glycosylated peptide. In contrast to other proteins of the family, it does not act as a peptide transferase that transfers GalNAc onto serine or threonine residue on the protein receptor, but instead requires the prior addition of a GalNAc on a peptide before adding additional GalNAc moieties. Some peptide transferase activity is however not excluded, considering that its appropriate peptide substrate may remain unidentified.',NULL,NULL,NULL,NULL,NULL),(5175,'UniProt Function',NULL,6370,NULL,'Gastrin stimulates the stomach mucosa to produce and secrete hydrochloric acid and the pancreas to secrete its digestive enzymes. It also stimulates smooth muscle contraction and increases blood circulation and water secretion in the stomach and intestine.',NULL,NULL,NULL,NULL,NULL),(5176,'UniProt Function',NULL,6371,NULL,'Ligand for tyrosine-protein kinase receptors AXL, TYRO3 and MER whose signaling is implicated in cell growth and survival, cell adhesion and cell migration. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses.',NULL,NULL,NULL,NULL,NULL),(5177,'UniProt Function',NULL,6371,NULL,'(Microbial infection) Can bridges virus envelope phosphatidylserine to the TAM receptor tyrosine kinase Axl to mediate viral entry by apoptotic mimicry (PubMed:21501828). Plays a role in Dengue cell entry by apoptotic mimicry (PubMed:23084921). Plays a role in Vaccinia virus cell entry by apoptotic mimicry (PubMed:21501828). Plays a role in ebolavirus and marburgvirus cell entry by apoptotic mimicry (PubMed:17005688).',NULL,NULL,NULL,NULL,NULL),(5178,'UniProt Function',NULL,6372,NULL,'Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens.',NULL,NULL,NULL,NULL,NULL),(5179,'UniProt Function',NULL,6373,NULL,'Extracellular lectin functioning as a pattern-recognition receptor in innate immunity. Binds the sugar moieties of pathogen-associated molecular patterns (PAMPs) displayed on microbes and activates the lectin pathway of the complement system. May also activate monocytes through a G protein-coupled receptor, FFAR2, inducing the secretion of interleukin-8/IL-8 (PubMed:21037097). Binds preferentially to 9-O-acetylated 2-6-linked sialic acid derivatives and to various glycans containing sialic acid engaged in a 2-3 linkage.',NULL,NULL,NULL,NULL,NULL),(5180,'UniProt Function',NULL,6374,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5181,'UniProt Function',NULL,6375,NULL,'Promotes the formation of filopodia. May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape (By similarity).',NULL,NULL,NULL,NULL,NULL),(5182,'UniProt Function',NULL,6376,NULL,'Involved in the suppression of bile acid biosynthesis through down-regulation of CYP7A1 expression, following positive regulation of the JNK and ERK1/2 cascades. Stimulates glucose uptake in adipocytes. Activity requires the presence of KLB and FGFR4.',NULL,NULL,NULL,NULL,NULL),(5183,'UniProt Function',NULL,6377,NULL,'Functions as a transcriptional regulator. According to PubMed:12761502, it functions as a transcriptional repressor. Functions in the differentiation and the maintenance of the central serotonergic neurons. May play a role in cell growth.',NULL,NULL,NULL,NULL,NULL),(5184,'UniProt Function',NULL,6378,NULL,'May be involved in axonal outgrowth as component of the network of molecules that regulate cellular morphology and axon guidance machinery. Able to restore partial locomotion and axonal fasciculation to C.elegans unc-76 mutants in germline transformation experiments. May participate in the transport of mitochondria and other cargos along microtubules.',NULL,NULL,NULL,NULL,NULL),(5185,'UniProt Function',NULL,6379,NULL,'PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens.',NULL,NULL,NULL,NULL,NULL),(5186,'UniProt Function',NULL,6380,NULL,'Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing TGF-beta receptor activation in absence of ligand. Recruits SMAD7 to ACVR1B which prevents the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.',NULL,NULL,NULL,NULL,NULL),(5187,'UniProt Function',NULL,6381,NULL,'Has the potential to contribute to the immunosuppressive and toxic effects of FK506 and rapamycin. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.',NULL,NULL,NULL,NULL,NULL),(5188,'UniProt Function',NULL,6382,NULL,'Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Required for accumulation of METTL3 and METTL14 to nuclear speckle (PubMed:24316715, PubMed:24407421, PubMed:24981863). Acts as a mRNA splicing regulator (PubMed:12444081). Regulates G2/M cell-cycle transition by binding to the 3\' UTR of CCNA2, which enhances its stability (PubMed:17088532). Impairs WT1 DNA-binding ability and inhibits expression of WT1 target genes (PubMed:17095724).',NULL,NULL,NULL,NULL,NULL),(5189,'UniProt Function',NULL,6383,NULL,'This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides.',NULL,NULL,NULL,NULL,NULL),(5190,'UniProt Function',NULL,6385,NULL,'Stimulates the proliferation of early hematopoietic cells by activating FLT3. Synergizes well with a number of other colony stimulating factors and interleukins.',NULL,NULL,NULL,NULL,NULL),(5191,'UniProt Function',NULL,6387,NULL,'Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 AND GLI3 transcription factors (By similarity).',NULL,NULL,NULL,NULL,NULL),(5192,'UniProt Function',NULL,6390,NULL,'Transcription factor involved in regulation of gene expression in a variety of processes, including formation of positional identity in the developing retina, regionalization of the optic chiasm, morphogenesis of the kidney, and neuralization of ectodermal cells (By similarity). Involved in transcriptional activation of PGF and C3 genes (PubMed:27805902).',NULL,NULL,NULL,NULL,NULL),(5193,'UniProt Function',NULL,6391,NULL,'Transcriptional activator. Able to bind to two different type of DNA binding sites. Isoform FOXJ2.L behaves as a more potent transactivator than FOXJ2.S.',NULL,NULL,NULL,NULL,NULL),(5194,'UniProt Function',NULL,6392,NULL,'Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3.',NULL,NULL,NULL,NULL,NULL),(5195,'UniProt Function',NULL,6393,NULL,'Transcriptional activator which triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress (PubMed:10102273, PubMed:16751106). Recognizes and binds to the DNA sequence 5\'-[AG]TAAA[TC]A-3\' (PubMed:21329882). Participates in post-transcriptional regulation of MYC: following phosphorylation by MAPKAPK5, promotes induction of miR-34b and miR-34c expression, 2 post-transcriptional regulators of MYC that bind to the 3\'UTR of MYC transcript and prevent its translation (PubMed:21329882). In response to metabolic stress, translocates into the mitochondria where it promotes mtDNA transcription (PubMed:23283301).',NULL,NULL,NULL,NULL,NULL),(5196,'UniProt Function',NULL,6394,NULL,'Plays a crucial role in the structural integrity of mitotic centrosomes and in the maintenance of spindle bipolarity by promoting PLK1 activity at the spindle poles in early mitosis. May function as a scaffold promoting the interaction between AURKA and PLK1, thereby enhancing AURKA-mediated PLK1 phosphorylation.',NULL,NULL,NULL,NULL,NULL),(5197,'UniProt Function',NULL,6396,NULL,'May play a role in the regulation of tight junction formation. Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2).',NULL,NULL,NULL,NULL,NULL),(5198,'UniProt Function',NULL,6397,NULL,'RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis (PubMed:22002720, PubMed:26458103, PubMed:28002401, PubMed:30197295, PubMed:26457839, PubMed:25452335). Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:22002720, PubMed:26458103, PubMed:30197295, PubMed:26457839, PubMed:25452335). M6A demethylation by FTO affects mRNA expression and stability (PubMed:30197295). Also able to demethylate m6A in U6 small nuclear RNA (snRNA) (PubMed:30197295). Mediates demethylation of N(6),2\'-O-dimethyladenosine cap (m6A(m)), by demethylating the N(6)-methyladenosine at the second transcribed position of mRNAs and U6 snRNA (PubMed:28002401, PubMed:30197295). Demethylation of m6A(m) in the 5\'-cap by FTO affects mRNA stability by promoting susceptibility to decapping (PubMed:28002401). Also acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs (PubMed:30197295). Has no activity towards 1-methylguanine (PubMed:20376003). Has no detectable activity towards double-stranded DNA (PubMed:20376003). Also able to repair alkylated DNA and RNA by oxidative demethylation: demethylates single-stranded RNA containing 3-methyluracil, single-stranded DNA containing 3-methylthymine and has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine (PubMed:18775698, PubMed:20376003). Ability to repair alkylated DNA and RNA is however unsure in vivo (PubMed:18775698, PubMed:20376003). Involved in the regulation of fat mass, adipogenesis and body weight, thereby contributing to the regulation of body size and body fat accumulation (PubMed:18775698, PubMed:20376003). Involved in the regulation of thermogenesis and the control of adipocyte differentiation into brown or white fat cells (PubMed:26287746). Regulates activity of the dopaminergic midbrain circuitry via its ability to demethylate m6A in mRNAs (By similarity). Plays an oncogenic role in a number of acute myeloid leukemias by enhancing leukemic oncogene-mediated cell transformation: acts by mediating m6A demethylation of target transcripts such as MYC, CEBPA, ASB2 and RARA, leading to promote their expression (PubMed:28017614, PubMed:29249359).',NULL,NULL,NULL,NULL,NULL),(5199,'UniProt Function',NULL,6399,NULL,'Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Gal-beta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway.',NULL,NULL,NULL,NULL,NULL),(5200,'UniProt Function',NULL,6400,NULL,'Substrate-recognition component of the SCF(FBXL17) E3 ubiquitin ligase complex, a key component of a quality control pathway required to ensure functional dimerization of BTB domain-containing proteins (dimerization quality control, DQC) (PubMed:30190310). FBXL17 specifically recognizes and binds a conserved degron of non-consecutive residues present at the interface of BTB dimers of aberrant composition: aberrant BTB dimer are then ubiquitinated by the SCF(FBXL17) complex and degraded by the proteaseome (PubMed:30190310). The ability of the SCF(FBXL17) complex to eliminate compromised BTB dimers is required for the differentiation and survival of neural crest and neuronal cells (By similarity). The SCF(FBXL17) complex mediates ubiquitination and degradation of BACH1 (PubMed:24035498, PubMed:30190310). The SCF(FBXL17) complex is also involved in the regulation of the hedgehog/smoothened (Hh) signaling pathway by mediating the ubiquitination and degradation of SUFU, allowing the release of GLI1 from SUFU for proper Hh signal transduction (PubMed:27234298). The SCF(FBXL17) complex mediates ubiquitination and degradation of PRMT1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(5201,'UniProt Function',NULL,6401,NULL,'Promotes apoptosis by binding to BCL2, hence preventing the formation of protective BCL2-BAX heterodimers.',NULL,NULL,NULL,NULL,NULL),(5202,'UniProt Function',NULL,6402,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Promotes ubiquitination of sarcomeric proteins alpha-actinin-2 (ACTN2) and filamin-C (FLNC).',NULL,NULL,NULL,NULL,NULL),(5203,'UniProt Function',NULL,6403,NULL,'Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Together with FZD3, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear (By similarity).',NULL,NULL,NULL,NULL,NULL),(5204,'UniProt Function',NULL,6404,NULL,'Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production (PubMed:12665801, PubMed:17311996, PubMed:27743390). Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide (PubMed:12665801). This regulation of megakaryocate function as well as platelet production ann activation is done through the inhibition (via the 2 ITIM motifs) of the receptors CLEC1B and GP6:FcRgamma signaling (PubMed:17311996). Appears to operate in a calcium-independent manner (PubMed:12665801).',NULL,NULL,NULL,NULL,NULL),(5205,'UniProt Function',NULL,6404,NULL,'Isoform B, displayed in this entry, is the only isoform to contain both a transmembrane region and 2 immunoreceptor tyrosine-based inhibitor motifs (ITIMs) and, thus, the only one which probably has a role of inhibitory receptor. Isoform A may be the activating counterpart of isoform B.',NULL,NULL,NULL,NULL,NULL),(5206,'UniProt Function',NULL,6405,NULL,'Formylates methionyl-tRNA in mitochondria. A single tRNA(Met) gene gives rise to both an initiator and an elongator species via an unknown mechanism (By similarity).',NULL,NULL,NULL,NULL,NULL),(5207,'UniProt Function',NULL,6406,NULL,'Irisin: Contrary to mouse, may not be involved in the beneficial effects of muscular exercise, nor in the induction of browning of human white adipose tissue.',NULL,NULL,NULL,NULL,NULL),(5208,'UniProt Function',NULL,6408,NULL,'Mediates spermatid-Sertoli adhesion during spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(5209,'UniProt Function',NULL,6409,NULL,'Involved in the biogenesis of cilia (PubMed:20551181). Required for the recruitement of PLK1 to centrosomes and S phase progression (PubMed:24018379).',NULL,NULL,NULL,NULL,NULL),(5210,'UniProt Function',NULL,6410,NULL,'Transcription factor.',NULL,NULL,NULL,NULL,NULL),(5211,'UniProt Function',NULL,6414,NULL,'Involved in the interconversion between alpha- and beta-L-fucoses. L-Fucose (6-deoxy-L-galactose) exists as alpha-L-fucose (29.5%) and beta-L-fucose (70.5%), the beta-form is metabolized through the salvage pathway. GDP-L-fucose formed either by the de novo or salvage pathways is transported into the endoplasmic reticulum, where it serves as a substrate for N- and O-glycosylations by fucosyltransferases. Fucosylated structures expressed on cell surfaces or secreted in biological fluids are believed to play a critical role in cell-cell adhesion and recognition processes.',NULL,NULL,NULL,NULL,NULL),(5212,'UniProt Function',NULL,6415,NULL,'Regulates MYC expression by binding to a single-stranded far-upstream element (FUSE) upstream of the MYC promoter. May act both as activator and repressor of transcription.',NULL,NULL,NULL,NULL,NULL),(5213,'UniProt Function',NULL,6416,NULL,'Binds to the dendritic targeting element and may play a role in mRNA trafficking (By similarity). Part of a ternary complex that binds to the downstream control sequence (DCS) of the pre-mRNA. Mediates exon inclusion in transcripts that are subject to tissue-specific alternative splicing. May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression. Also involved in degradation of inherently unstable mRNAs that contain AU-rich elements (AREs) in their 3\'-UTR, possibly by recruiting degradation machinery to ARE-containing mRNAs.',NULL,NULL,NULL,NULL,NULL),(5214,'UniProt Function',NULL,6417,NULL,'Substrate-recognition component of the SCF(FBXL21) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation. The SCF(FBXL21) complex mainly acts in the cytosol and mediates ubiquitination of CRY proteins (CRY1 and CRY2), leading to CRY proteins stabilization. The SCF(FBXL21) complex counteracts the activity of the SCF(FBXL3) complex and protects CRY proteins from degradation. Involved in the hypothalamic suprachiasmatic nucleus (SCN) clock regulating temporal organization of the daily activities (By similarity).',NULL,NULL,NULL,NULL,NULL),(5215,'UniProt Function',NULL,6418,NULL,'The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolar pathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicular bodies (MVB) transport intermediates from early endosomes.',NULL,NULL,NULL,NULL,NULL),(5216,'UniProt Function',NULL,6419,NULL,'May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles.',NULL,NULL,NULL,NULL,NULL),(5217,'UniProt Function',NULL,6420,NULL,'May act as a link between RND2 signaling and regulation of the actin cytoskeleton (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during the late stage of clathrin-mediated endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. May be required for the lysosomal retention of FASLG/FASL.',NULL,NULL,NULL,NULL,NULL),(5218,'UniProt Function',NULL,6423,NULL,'Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression.',NULL,NULL,NULL,NULL,NULL),(5219,'UniProt Function',NULL,6424,NULL,'Binds to the purine-rich region in HTLV-I LTR.',NULL,NULL,NULL,NULL,NULL),(5220,'UniProt Function',NULL,6425,NULL,'Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1.',NULL,NULL,NULL,NULL,NULL),(5221,'UniProt Function',NULL,6426,NULL,'Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophil chemotactic factors (PubMed:1374236). Binding of FMLP to the receptor causes activation of neutrophils (PubMed:1374236). This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:1374236). The activation of LXA4R could result in an anti-inflammatory outcome counteracting the actions of proinflammatory signals such as LTB4 (leukotriene B4) (PubMed:9547339). Receptor for the chemokine-like protein FAM19A5, mediating FAM19A5-stimulated macrophage chemotaxis and the inhibitory effect on TNFSF11/RANKL-induced osteoclast differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(5222,'UniProt Function',NULL,6427,NULL,'Extracellular matrix protein which may play a role in cell adhesion.',NULL,NULL,NULL,NULL,NULL),(5223,'UniProt Function',NULL,6428,NULL,'Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B.',NULL,NULL,NULL,NULL,NULL),(5224,'UniProt Function',NULL,6430,NULL,'Binds directly to activin and functions as an activin antagonist. Specific inhibitor of the biosynthesis and secretion of pituitary follicle stimulating hormone (FSH).',NULL,NULL,NULL,NULL,NULL),(5225,'UniProt Function',NULL,6432,NULL,'Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability.',NULL,NULL,NULL,NULL,NULL),(5226,'UniProt Function',NULL,6433,NULL,'Also acts as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(5227,'UniProt Function',NULL,6434,NULL,'Probable fucosyltransferase.',NULL,NULL,NULL,NULL,NULL),(5228,'UniProt Function',NULL,6435,NULL,'Enzyme involved in the biosynthesis of the E-Selectin ligand, sialyl-Lewis X. Catalyzes the transfer of fucose from GDP-beta-fucose to alpha-2,3 sialylated substrates.',NULL,NULL,NULL,NULL,NULL),(5229,'UniProt Function',NULL,6438,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SMURF1, thereby acting as a positive regulator of the BMP signaling pathway. Required for dorsal/ventral pattern formation and bone mass maintenance. Also mediates ubiquitination of SMURF2 and WWP2.',NULL,NULL,NULL,NULL,NULL),(5230,'UniProt Function',NULL,6439,NULL,'Probable flavoprotein which may function in endoplasmic reticulum associated degradation (ERAD). May bind non-native proteins in the endoplasmic reticulum and target them to the ubiquitination machinery for subsequent degradation.',NULL,NULL,NULL,NULL,NULL),(5231,'UniProt Function',NULL,6440,NULL,'May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression.',NULL,NULL,NULL,NULL,NULL),(5232,'UniProt Function',NULL,6442,NULL,'May function as an inhibitor of the B-cell receptor signaling. May function in the B-cell-mediated immune response.',NULL,NULL,NULL,NULL,NULL),(5233,'UniProt Function',NULL,6444,NULL,'May play a role in lipid transport.',NULL,NULL,NULL,NULL,NULL),(5234,'UniProt Function',NULL,6445,NULL,'Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit.',NULL,NULL,NULL,NULL,NULL),(5235,'UniProt Function',NULL,6446,NULL,'Transcription factor that binds to the E-box and functions as inhibitor of transcription. DNA binding requires dimerization with an E protein. Inhibits transcription activation by ASCL1/MASH1 by sequestering E proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(5236,'UniProt Function',NULL,6447,NULL,'Cleaves P(1)-P(3)-bis(5\'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyze P(1)-P(4)-bis(5\'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP. Modulates transcriptional activation by CTNNB1 and thereby contributes to regulate the expression of genes essential for cell proliferation and survival, such as CCND1 and BIRC5. Plays a role in the induction of apoptosis via SRC and AKT1 signaling pathways. Inhibits MDM2-mediated proteasomal degradation of p53/TP53 and thereby plays a role in p53/TP53-mediated apoptosis. Induction of apoptosis depends on the ability of FHIT to bind P(1)-P(3)-bis(5\'-adenosyl) triphosphate or related compounds, but does not require its catalytic activity, it may in part come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calcium uptake. Functions as tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(5237,'UniProt Function',NULL,6448,NULL,'Transcriptional repressor. Binds DNA on N-box motifs: 5\'-CACNAG-3\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(5238,'UniProt Function',NULL,6449,NULL,'Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism.',NULL,NULL,NULL,NULL,NULL),(5239,'UniProt Function',NULL,6450,NULL,'Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH.',NULL,NULL,NULL,NULL,NULL),(5240,'UniProt Function',NULL,6451,NULL,'Heparin-binding protein which binds to FGF2, prevents binding of FGF2 to heparin and probably inhibits immobilization of FGF2 on extracellular matrix glycosaminoglycans, allowing its release and subsequent activation of FGFR signaling which leads to increased vascular permeability.',NULL,NULL,NULL,NULL,NULL),(5241,'UniProt Function',NULL,6452,NULL,'Germline specific transcription factor implicated in postnatal oocyte-specific gene expression. Plays a key regulatory role in the expression of multiple oocyte-specific genes, including those that initiate folliculogenesis and those that encode the zona pellucida (ZP1, ZP2 and ZP3) required for fertilization and early embryonic survival. Essential for oocytes to survive and form primordial follicles. The persistence of FIGLA in adult females suggests that it may regulate additional pathways that are essential for normal ovarian development. Binds to the E-box (5\'-CANNTG-3\') of the ZPs (ZP1, ZP2, ZP3) promoters.',NULL,NULL,NULL,NULL,NULL),(5242,'UniProt Function',NULL,6453,NULL,'Neurotrophic factor that regulates central nervous development and function.',NULL,NULL,NULL,NULL,NULL),(5243,'UniProt Function',NULL,6454,NULL,'May be a transcriptional repressor of NRL function in photoreceptors. Does not repress CRX-mediated transactivation (By similarity).',NULL,NULL,NULL,NULL,NULL),(5244,'UniProt Function',NULL,6455,NULL,'PPIases accelerate the folding of proteins during protein synthesis.',NULL,NULL,NULL,NULL,NULL),(5245,'UniProt Function',NULL,6456,NULL,'Functions in cell-cell adhesion, cell migration and axon guidance, exerting an attractive or repulsive role depending on its interaction partners. Plays a role in the spatial organization of brain neurons. Plays a role in vascular development in the retina (By similarity). Plays a role in cell-cell adhesion via its interaction with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells (PubMed:26235030). Interaction with the intracellular domain of ROBO1 mediates axon attraction towards cells expressing NTN1. Mediates axon growth cone collapse and plays a repulsive role in neuron guidance via its interaction with UNC5B, and possibly also other UNC-5 family members (By similarity). Promotes neurite outgrowth (in vitro) (PubMed:14706654). Mediates cell-cell contacts that promote an increase both in neurite number and in neurite length. Plays a role in the regulation of the density of glutamaergic synapses. Plays a role in fibroblast growth factor-mediated signaling cascades. Required for normal morphogenesis during embryonic development, but not for normal embryonic patterning. Required for normal ventral closure, headfold fusion and definitive endoderm migration during embryonic development. Required for the formation of a normal basement membrane and the maintenance of a normal anterior visceral endoderm during embryonic development (By similarity).',NULL,NULL,NULL,NULL,NULL),(5246,'UniProt Function',NULL,6457,NULL,'Plays a role in the assembly/stability of the mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) (PubMed:28719601).',NULL,NULL,NULL,NULL,NULL),(5247,'UniProt Function',NULL,6458,NULL,'Catalyzes the N-oxidation of certain primary alkylamines to their oximes via an N-hydroxylamine intermediate. Inactive toward certain tertiary amines, such as imipramine or chloropromazine. Can catalyze the S-oxidation of methimazole. The truncated form is catalytically inactive.',NULL,NULL,NULL,NULL,NULL),(5248,'UniProt Function',NULL,6460,NULL,'May be an activator of G protein signaling.',NULL,NULL,NULL,NULL,NULL),(5249,'UniProt Function',NULL,6461,NULL,'Transcriptional regulator that binds to the upstream enhancer region (CCAC box) of myoglobin gene (By similarity). Important regulatory factor of the myogenic progenitor cell population (By similarity). Involved in the cell cycle process, promotes proliferation by repressing Foxo4 transcriptional activity and the cyclin-dependent kinase inhibitor, p21CIP, in the myogenic progenitor cells (By similarity). Represses myogenic differentiation by inhibiting MEFC acitivity (By similarity). Has a role in remodeling processes of adult muscles that occur in response to physiological stimuli (By similarity). Required to correct temporal orchestration of molecular and cellular events necessary for muscle repair (By similarity). Positively regulates Wnt/beta-catenin signaling by translocating DVL into the nucleus (PubMed:25805136). Reduces virus replication, probably by binding the interferon stimulated response element (ISRE) to promote antiviral gene expression (PubMed:25852164).',NULL,NULL,NULL,NULL,NULL),(5250,'UniProt Function',NULL,6462,NULL,'Protein that can both mediate the addition of adenosine 5\'-monophosphate (AMP) to specific residues of target proteins (AMPylation), and the removal of the same modification from target proteins (de-AMPylation), depending on the context (By similarity). The side chain of Glu-231 determines which of the two opposing activities (AMPylase or de-AMPylase) will take place (By similarity). Acts as a key regulator of the ERN1/IRE1-mediated unfolded protein response (UPR) by mediating AMPylation or de-AMPylation of HSPA5/BiP (PubMed:25601083). In unstressed cells, acts as an adenylyltransferase by mediating AMPylation of HSPA5/BiP at \'Thr-518\', thereby inactivating it (By similarity). In response to endoplasmic reticulum stress, acts as a phosphodiesterase by mediating removal of ATP (de-AMPylation) from HSPA5/BiP at \'Thr-518\', leading to restore HSPA5/BiP activity (By similarity). Although it is able to AMPylate RhoA, Rac and Cdc42 Rho GTPases in vitro, Rho GTPases do not constitute physiological substrates (PubMed:19362538, PubMed:25601083).',NULL,NULL,NULL,NULL,NULL),(5251,'UniProt Function',NULL,6463,NULL,'Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation.',NULL,NULL,NULL,NULL,NULL),(5252,'UniProt Function',NULL,6464,NULL,'Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis.',NULL,NULL,NULL,NULL,NULL),(5253,'UniProt Function',NULL,6465,NULL,'Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3\'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. FIP1L1 contributes to poly(A) site recognition and stimulates poly(A) addition. Binds to U-rich RNA sequence elements surrounding the poly(A) site. May act to tether poly(A) polymerase to the CPSF complex.',NULL,NULL,NULL,NULL,NULL),(5254,'UniProt Function',NULL,6466,NULL,'PPIases accelerate the folding of proteins during protein synthesis.',NULL,NULL,NULL,NULL,NULL),(5255,'UniProt Function',NULL,6467,NULL,'Immunophilin protein with PPIase and co-chaperone activities. Component of unligated steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). Plays a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors maintaining the complex into the cytoplasm when unliganded.',NULL,NULL,NULL,NULL,NULL),(5256,'UniProt Function',NULL,6468,NULL,'May be involved in the cytoskeletal organization of neuronal growth cones. Seems to be inactive as a PPIase (By similarity). Involved in the transport of early endosomes at the level of transition between microfilament-based and microtubule-based movement.',NULL,NULL,NULL,NULL,NULL),(5257,'UniProt Function',NULL,6469,NULL,'Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5\'-C[CA]GGAAGT-3\'.',NULL,NULL,NULL,NULL,NULL),(5258,'UniProt Function',NULL,6470,NULL,'Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the development of blood vessels, heart and brain organs. Plays a role in platelets morphology through interaction with SYK that regulates ITAM- and ITAM-like-containing receptor signaling, resulting in by platelet cytoskeleton organization maintenance (By similarity).',NULL,NULL,NULL,NULL,NULL),(5259,'UniProt Function',NULL,6471,NULL,'Plays a role in fibroblast growth factor-mediated signaling cascades that lead to the activation of MAP kinases. Promotes neurite outgrowth via FGFR1-mediated activation of downstream MAP kinases. Promotes an increase both in neurite number and in neurite length. May play a role in cell-cell adhesion and cell guidance via its interaction with ADGRL1/LPHN1 and ADGRL3.',NULL,NULL,NULL,NULL,NULL),(5260,'UniProt Function',NULL,6472,NULL,'Plays a role in the formation of adherens junction and the polymerization of linear actin cables.',NULL,NULL,NULL,NULL,NULL),(5261,'UniProt Function',NULL,6473,NULL,'Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization (PubMed:22330775, PubMed:21730168). Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2 (PubMed:22330775, PubMed:21730168). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (By similarity). Required for asymmetric spindle positioning, asymmetric oocyte division and polar body extrusion during female germ cell meiosis (By similarity). Plays a role in responses to DNA damage, cellular stress and hypoxia by protecting CDKN1A against degradation, and thereby plays a role in stress-induced cell cycle arrest (PubMed:23375502). Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480). Protects cells against apoptosis by protecting CDKN1A against degradation (PubMed:23375502).',NULL,NULL,NULL,NULL,NULL),(5262,'UniProt Function',NULL,6474,NULL,'May play a role in the control of cell motility and survival of macrophages (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape.',NULL,NULL,NULL,NULL,NULL),(5263,'UniProt Function',NULL,6475,NULL,'Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro.',NULL,NULL,NULL,NULL,NULL),(5264,'UniProt Function',NULL,6476,NULL,'Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5265,'UniProt Function',NULL,6477,NULL,'Potential tumor suppressor in gliomas.',NULL,NULL,NULL,NULL,NULL),(5266,'UniProt Function',NULL,6478,NULL,'Transcriptional repressor that represses lung-specific expression.',NULL,NULL,NULL,NULL,NULL),(5267,'UniProt Function',NULL,6479,NULL,'Transcription factor essential for neural and some non-neural tissues development, such as retina and lung respectively. Binds to an 11-bp consensus sequence containing the invariant tetranucleotide 5\'-ACGC-3\'. During development of the central nervous system, is required to specify the amacrine and horizontal cell fates from multipotent retinal progenitors while suppressing the alternative photoreceptor cell fates through activating DLL4-NOTCH signaling. Also acts synergistically with ASCL1/MASH1 to activate DLL4-NOTCH signaling and drive commitment of p2 progenitors to the V2b interneuron fates during spinal cord neurogenesis. In development of non-neural tissues, plays an essential role in the specification of the atrioventricular canal and is indirectly required for patterning the distal airway during lung development (By similarity).',NULL,NULL,NULL,NULL,NULL),(5268,'UniProt Function',NULL,6480,NULL,'Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3. May play a role in tumor progression and collaborate with PIM1 and MYC in lymphomagenesis.',NULL,NULL,NULL,NULL,NULL),(5269,'UniProt Function',NULL,6482,NULL,'May function in innate immunity through activation of the lectin complement pathway. Calcium-dependent and GlcNAc-binding lectin. Has affinity with GalNAc, GlcNAc, D-fucose, as mono/oligosaccharide and lipopolysaccharides from S.typhimurium and S.minnesota.',NULL,NULL,NULL,NULL,NULL),(5270,'UniProt Function',NULL,6485,NULL,'Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. May bind to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promote membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by activating the WASL/N-WASP-WASPIP/WIP complex, the predominant form of WASL/N-WASP in cells. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Essential for autophagy of intracellular bacterial pathogens.',NULL,NULL,NULL,NULL,NULL),(5271,'UniProt Function',NULL,6486,NULL,'Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit (By similarity). May participate in antiinflammatory signaling via its interaction with PTGER4.',NULL,NULL,NULL,NULL,NULL),(5272,'UniProt Function',NULL,6487,NULL,'Protease inhibitor required for egg fertilization. Required to prevent premature zona pellucida hardening before fertilization, probably by inhibiting the protease activity of ASTL, a protease that mediates the cleavage of ZP2 and triggers zona pellucida hardening (By similarity).',NULL,NULL,NULL,NULL,NULL),(5273,'UniProt Function',NULL,6488,NULL,'Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis.',NULL,NULL,NULL,NULL,NULL),(5274,'UniProt Function',NULL,6489,NULL,'Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1.',NULL,NULL,NULL,NULL,NULL),(5275,'UniProt Function',NULL,6490,NULL,'Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors.',NULL,NULL,NULL,NULL,NULL),(5276,'UniProt Function',NULL,6491,NULL,'Does not bind DNA itself but suppresses both HES1-mediated N box-dependent transcriptional repression and binding of HES1 to E box sequences. Also suppresses HES1-mediated inhibition of the heterodimer formed by ASCL1/MASH1 and TCF3/E47, allowing ASCL1 and TCF3 to up-regulate transcription in its presence. Promotes cell differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(5277,'UniProt Function',NULL,6492,NULL,'Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays a role in the regulation of cell proliferation, differentiation and migration, and in regulation of lipid metabolism, bile acid biosynthesis, glucose uptake, vitamin D metabolism and phosphate homeostasis. Required for normal down-regulation of the expression of CYP7A1, the rate-limiting enzyme in bile acid synthesis, in response to FGF19. Phosphorylates PLCG1 and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes SRC-dependent phosphorylation of the matrix protease MMP14 and its lysosomal degradation. FGFR4 signaling is down-regulated by receptor internalization and degradation; MMP14 promotes internalization and degradation of FGFR4. Mutations that lead to constitutive kinase activation or impair normal FGFR4 inactivation lead to aberrant signaling.',NULL,NULL,NULL,NULL,NULL),(5278,'UniProt Function',NULL,6493,NULL,'ATP-dependent microtubule severing protein. Severs microtubules along their length and depolymerizes their ends, primarily the minus-end, that may lead to the suppression of microtubule growth from and attachment to centrosomes. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome.',NULL,NULL,NULL,NULL,NULL),(5279,'UniProt Function',NULL,6494,NULL,'Co-chaperone required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis. May be required together with HSP90 in removal of 16 nucleotide ping-pong by-products from Piwi complexes, possibly facilitating turnover of Piwi complexes (By similarity).',NULL,NULL,NULL,NULL,NULL),(5280,'UniProt Function',NULL,6495,NULL,'Immunophilin protein with PPIase and co-chaperone activities. Component of steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments. The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Acts also as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly. May have a protective role against oxidative stress in mitochondria.',NULL,NULL,NULL,NULL,NULL),(5281,'UniProt Function',NULL,6496,NULL,'Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics.',NULL,NULL,NULL,NULL,NULL),(5282,'UniProt Function',NULL,6499,NULL,'May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. May be involved in epidermal cell adhesion and epidermal structure and function.',NULL,NULL,NULL,NULL,NULL),(5283,'UniProt Function',NULL,6500,NULL,'May initiate a process leading to the deglycation of fructoselysine and of glycated proteins. May play a role in the phosphorylation of 1-deoxy-1-morpholinofructose (DMF), fructoselysine, fructoseglycine, fructose and glycated lysozyme.',NULL,NULL,NULL,NULL,NULL),(5284,'UniProt Function',NULL,6501,NULL,'Essential subunit of both the farnesyltransferase and the geranylgeranyltransferase complex. Contributes to the transfer of a farnesyl or geranylgeranyl moiety from farnesyl or geranylgeranyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. May positively regulate neuromuscular junction development downstream of MUSK via its function in RAC1 prenylation and activation.',NULL,NULL,NULL,NULL,NULL),(5285,'UniProt Function',NULL,6502,NULL,'Acts as a co-chaperone of HSP90AA1. Inhibits the ATPase activity of HSP90AA1 leading to reduction in its chaperone activity. Facilitates the binding of client protein FLCN to HSP90AA1. Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:27353360). May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways (PubMed:17028174). May regulate phosphorylation of RPS6KB1 (PubMed:18663353).',NULL,NULL,NULL,NULL,NULL),(5286,'UniProt Function',NULL,6504,NULL,'Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.',NULL,NULL,NULL,NULL,NULL),(5287,'UniProt Function',NULL,6505,NULL,'Lipid transport protein in adipocytes. Binds both long chain fatty acids and retinoic acid. Delivers long-chain fatty acids and retinoic acid to their cognate receptors in the nucleus.',NULL,NULL,NULL,NULL,NULL),(5288,'UniProt Function',NULL,6506,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(5289,'UniProt Function',NULL,6507,NULL,'Plays a role in processing of mitochondrial RNA precursors and in stabilization of a subset of mature mitochondrial RNA species, such as MT-CO1, MT-CO2, MT-CYB, MT-CO3, MT-ND3, MT-ND5 and MT-ATP8/6. May play a role in cell cycle progression (PubMed:9383053).',NULL,NULL,NULL,NULL,NULL),(5290,'UniProt Function',NULL,6508,NULL,'As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.',NULL,NULL,NULL,NULL,NULL),(5291,'UniProt Function',NULL,6509,NULL,'Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.',NULL,NULL,NULL,NULL,NULL),(5292,'UniProt Function',NULL,6510,NULL,'High specificity for fatty acids.',NULL,NULL,NULL,NULL,NULL),(5293,'UniProt Function',NULL,6511,NULL,'3\'-5\' DNA helicase and substrate-recognition component of the SCF(FBH1) E3 ubiquitin ligase complex that plays a key role in response to stalled/damaged replication forks (PubMed:11956208, PubMed:23393192). Involved in genome maintenance by acting as an anti-recombinogenic helicase and preventing extensive strand exchange during homologous recombination: promotes RAD51 filament dissolution from stalled forks, thereby inhibiting homologous recombination and preventing excessive recombination (PubMed:17724085, PubMed:19736316). Also promotes cell death and DNA double-strand breakage in response to replication stress: together with MUS81, promotes the endonucleolytic DNA cleavage following prolonged replication stress via its helicase activity, possibly to eliminate cells with excessive replication stress (PubMed:23319600, PubMed:23361013). Plays a major role in remodeling of stalled DNA forks by catalyzing fork regression, in which the fork reverses and the two nascent DNA strands anneal (PubMed:25772361). In addition to the helicase activity, also acts as the substrate-recognition component of the SCF(FBH1) E3 ubiquitin ligase complex, a complex that mediates ubiquitination of RAD51, leading to regulate RAD51 subcellular location (PubMed:25585578).',NULL,NULL,NULL,NULL,NULL),(5294,'UniProt Function',NULL,6512,NULL,'Calcium-activated substrate recognition component of the SCF (SKP1-cullin-F-box protein) E3 ubiquitin-protein ligase complex, SCF(FBXL2), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Unlike many F-box proteins, FBXL2 does not seem to target phosphodegron within its substrates but rather calmodulin-binding motifs and is thereby antagonized by calmodulin. This is the case for the cyclins CCND2 and CCND3 which polyubiquitination and subsequent degradation are inhibited by calmodulin. Through CCND2 and CCND3 degradation induces cell-cycle arrest in G(0) (PubMed:22020328, PubMed:22323446). SCF(FBXL2) also mediates PIK3R2 ubiquitination and proteasomal degradation thereby regulating phosphatidylinositol 3-kinase signaling and autophagy (PubMed:23604317). PCYT1A monoubiquitination by SCF(FBXL2) and subsequent degradation regulates synthesis of phosphatidylcholine, which is utilized for formation of membranes and of pulmonary surfactant (By similarity).',NULL,NULL,NULL,NULL,NULL),(5295,'UniProt Function',NULL,6513,NULL,'Substrate-recognition component of the SCF(FBXL3) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation (PubMed:17463251, PubMed:23452855, PubMed:27565346). The SCF(FBXL3) complex mainly acts in the nucleus and mediates ubiquitination and subsequent degradation of CRY1 and CRY2 (PubMed:17463251, PubMed:23452855, PubMed:27565346). Activity of the SCF(FBXL3) complex is counteracted by the SCF(FBXL21) complex (PubMed:23452855).',NULL,NULL,NULL,NULL,NULL),(5296,'UniProt Function',NULL,6514,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5297,'UniProt Function',NULL,6515,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Able to recognize and bind denatured glycoproteins, which are modified with complex-type oligosaccharides.',NULL,NULL,NULL,NULL,NULL),(5298,'UniProt Function',NULL,6516,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds to phosphorylated target proteins (PubMed:10066435, PubMed:10497169, PubMed:10644755, PubMed:10835356, PubMed:11238952, PubMed:11359933, PubMed:11994270, PubMed:12791267, PubMed:12902344, PubMed:14603323, PubMed:14681206, PubMed:14988407, PubMed:15448698, PubMed:15917222, PubMed:16371461, PubMed:25503564, PubMed:25704143, PubMed:9859996). SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling (PubMed:12077367, PubMed:12820959). SCF(BTRC) mediates the ubiquitination of phosphorylated NFKB1, ATF4, CDC25A, DLG1, FBXO5, PER1, SMAD3, SMAD4, SNAI1 and probably NFKB2 (PubMed:10835356, PubMed:11238952, PubMed:14681206, PubMed:14603323). SCF(BTRC) mediates the ubiquitination of NFKBIA, NFKBIB and NFKBIE; the degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription (PubMed:10066435, PubMed:10497169, PubMed:10644755). Ubiquitination of NFKBIA occurs at \'Lys-21\' and \'Lys-22\' (PubMed:10066435). SCF(BTRC) mediates the ubiquitination of CEP68; this is required for centriole separation during mitosis (PubMed:25704143, PubMed:25503564). SCF(BTRC) mediates the ubiquitination and subsequent degradation of nuclear NFE2L1 (By similarity). Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 and PER2 (PubMed:15917222). May be involved in ubiquitination and subsequent proteasomal degradation through a DBB1-CUL4 E3 ubiquitin-protein ligase. Required for activation of NFKB-mediated transcription by IL1B, MAP3K14, MAP3K1, IKBKB and TNF. Required for proteolytic processing of GLI3 (PubMed:16371461).',NULL,NULL,NULL,NULL,NULL),(5299,'UniProt Function',NULL,6517,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5300,'UniProt Function',NULL,6518,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination (PubMed:22748924, PubMed:17434132, PubMed:26976582, PubMed:28727686). Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NOTCH2, MCL1, and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923, PubMed:22748924, PubMed:29149593, PubMed:25775507, PubMed:28007894, PubMed:26976582, PubMed:28727686). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitination and subsequent degradation of NFE2L1 (By similarity). Involved in bone homeostasis and negative regulation of osteoclast differentiation (PubMed:29149593).',NULL,NULL,NULL,NULL,NULL),(5301,'UniProt Function',NULL,6519,NULL,'Promotes TLR9-induced B-cell proliferation, activation and survival but inhibits antibody production and suppresses plasma cell differentiation. Enhances activation of NF-kappa-B and MAPK signaling pathways in TLR9 stimulated B-cells (PubMed:23857366). Has inhibitory potentional on B-cell receptor (BCR)-mediated signaling, possibly through association with SH2 domain-containing phosphatases. Inhibits cell tyrosine phosphorylation, calcium mobilization and activation-induced cell death induced through BCR signaling (PubMed:19843936). Regulatory T-cells expressing FCRL3 exhibit a memory phenotype, are relatively nonresponsive to antigenic stimulation in presence of IL2 and have reduced capacity to suppress the proliferation of effector T-cells (PubMed:20190142, PubMed:19494275).',NULL,NULL,NULL,NULL,NULL),(5302,'UniProt Function',NULL,6520,NULL,'Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin. Only a small percentage (less than 2%) of the human AFP shows estrogen-binding properties.',NULL,NULL,NULL,NULL,NULL),(5303,'UniProt Function',NULL,6521,NULL,'Tyrosine-protein kinase that acts downstream of cell surface receptors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, cell attachment and cell spreading. Plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Acts down-stream of the activated FCER1 receptor and the mast/stem cell growth factor receptor KIT. Plays a role in the regulation of mast cell degranulation. Plays a role in the regulation of cell differentiation and promotes neurite outgrowth in response to NGF signaling. Plays a role in cell scattering and cell migration in response to HGF-induced activation of EZR. Phosphorylates BCR and down-regulates BCR kinase activity. Phosphorylates HCLS1/HS1, PECAM1, STAT3 and TRIM28.',NULL,NULL,NULL,NULL,NULL),(5304,'UniProt Function',NULL,6522,NULL,'Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules. Through its action on microtubules, may participate to the refinement of axons by negatively regulating axonal and leading processes branching. Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus.',NULL,NULL,NULL,NULL,NULL),(5305,'UniProt Function',NULL,6522,NULL,'May regulate voltage-gated sodium channels transport and function.',NULL,NULL,NULL,NULL,NULL),(5306,'UniProt Function',NULL,6522,NULL,'May also play a role in MAPK signaling.',NULL,NULL,NULL,NULL,NULL),(5307,'UniProt Function',NULL,6523,NULL,'Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. Growth factor active on keratinocytes. Possible major paracrine effector of normal epithelial cell proliferation.',NULL,NULL,NULL,NULL,NULL),(5308,'UniProt Function',NULL,6524,NULL,'Transcriptional repressor of genes that require a bHLH protein for their transcription.',NULL,NULL,NULL,NULL,NULL),(5309,'UniProt Function',NULL,6525,NULL,'May function as a molecular transmitter linking various signaling pathways to transcriptional regulation. Negatively regulates the transcriptional repressor E4F1 and may function in cell growth. Inhibits the transcriptional activity of FOXO1 and its apoptotic function by enhancing the interaction of FOXO1 with SIRT1 and FOXO1 deacetylation. Negatively regulates the calcineurin/NFAT signaling pathway in cardiomyocytes (PubMed:28717008).',NULL,NULL,NULL,NULL,NULL),(5310,'UniProt Function',NULL,6526,NULL,'Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5\'-AGCTTGAGTCTAATTGAATTAACTGTAC-3\'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation.',NULL,NULL,NULL,NULL,NULL),(5311,'UniProt Function',NULL,6527,NULL,'May be involved in the regulation of spermatogenesis. Stimulates CREM transcriptional activity in a phosphorylation-independent manner.',NULL,NULL,NULL,NULL,NULL),(5312,'UniProt Function',NULL,6528,NULL,'Stimulates glucose uptake in differentiated adipocytes via the induction of glucose transporter SLC2A1/GLUT1 expression (but not SLC2A4/GLUT4 expression). Activity requires the presence of KLB.',NULL,NULL,NULL,NULL,NULL),(5313,'UniProt Function',NULL,6529,NULL,'Binds to bile acids and is involved in enterohepatic bile acid metabolism. Required for efficient apical to basolateral transport of conjugated bile acids in ileal enterocytes (By similarity). In vitro binds to bile acids in the order: deoxycholic acid > cholic acid > chenodeoxycholic acid and respective BA conjugation modifies affinities in the order taurine-conjugated > glycine-conjugated > unconjugated bile acids. Stimulates gastric acid and pepsinogen secretion (By similarity).',NULL,NULL,NULL,NULL,NULL),(5314,'UniProt Function',NULL,6529,NULL,'Isoform 2: Essential for the survival of colon cancer cells to bile acid-induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(5315,'UniProt Function',NULL,6531,NULL,'Acetyl group-binding receptor which shows a high-affinity and calcium-dependent binding to acetylated structures such as chitin, some N-acetylated carbohydrates, and amino acids, but not to their non-acetylated counterparts. Can facilitate the endocytosis of acetylated components.',NULL,NULL,NULL,NULL,NULL),(5316,'UniProt Function',NULL,6532,NULL,'Involved in the regulation of cell migration (PubMed:18534823). May be involved in mediating the organization of the parallel fibers of granule cells during cerebellar development (By similarity).',NULL,NULL,NULL,NULL,NULL),(5317,'UniProt Function',NULL,6533,NULL,'Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.',NULL,NULL,NULL,NULL,NULL),(5318,'UniProt Function',NULL,6534,NULL,'Binds to the Fc region of immunoglobulins alpha. Mediates several functions including cytokine production.',NULL,NULL,NULL,NULL,NULL),(5319,'UniProt Function',NULL,6535,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5320,'UniProt Function',NULL,6536,NULL,'Binds to the Fc region of immunoglobulins epsilon. High affinity receptor. Responsible for initiating the allergic response. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators (such as histamine) responsible for the manifestations of allergy. The same receptor also induces the secretion of important lymphokines.',NULL,NULL,NULL,NULL,NULL),(5321,'UniProt Function',NULL,6537,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5322,'UniProt Function',NULL,6538,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5323,'UniProt Function',NULL,6539,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5324,'UniProt Function',NULL,6540,NULL,'Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling.',NULL,NULL,NULL,NULL,NULL),(5325,'UniProt Function',NULL,6541,NULL,'An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play important roles in differentiation and maintenance of odontoblasts as well as in dentin formation.',NULL,NULL,NULL,NULL,NULL),(5326,'UniProt Function',NULL,6542,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. Recognizes YBX1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(5327,'UniProt Function',NULL,6543,NULL,'Substrate-recognition component of a Cul7-RING ubiquitin-protein ligase complex, which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. The Cul7-RING(FBXW8) complex mediates ubiquitination and consequent degradation of GORASP1, acting as a component of the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain (PubMed:21572988). Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2) (PubMed:18498745). The Cul7-RING(FBXW8) complex also mediates ubiquitination of MAP4K1/HPK1: recognizes and binds autophosphorylated MAP4K1/HPK1, leading to its degradation, thereby affecting cell proliferation and differentiation (PubMed:24362026). Associated component of the 3M complex, suggesting that it mediates some of 3M complex functions (PubMed:24793695).',NULL,NULL,NULL,NULL,NULL),(5328,'UniProt Function',NULL,6544,NULL,'May be involved in the maintenance of the mucosal structure as a gel-like component of the mucosa.',NULL,NULL,NULL,NULL,NULL),(5329,'UniProt Function',NULL,6545,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of TTI1 and TELO2 in a CK2-dependent manner, thereby directly regulating mTOR signaling. SCF(FBXO9) recognizes and binds mTORC1-bound TTI1 and TELO2 when they are phosphorylated by CK2 following growth factor deprivation, leading to their degradation. In contrast, the SCF(FBXO9) does not mediate ubiquitination of TTI1 and TELO2 when they are part of the mTORC2 complex. As a consequence, mTORC1 is inactivated to restrain cell growth and protein translation, while mTORC2 is activated due to the relief of feedback inhibition by mTORC1.',NULL,NULL,NULL,NULL,NULL),(5330,'UniProt Function',NULL,6546,NULL,'May be involved in B-cell development and differentiation in peripheral lymphoid organs and may be useful markers of B-cell stages. May have an immunoregulatory role in marginal zone B-cells.',NULL,NULL,NULL,NULL,NULL),(5331,'UniProt Function',NULL,6547,NULL,'Fibrillin-1: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring roles. Fibrillin-1 also plays a key role in tissue homeostasis through specific interactions with growth factors, such as the bone morphogenetic proteins (BMPs), growth and differentiation factors (GDFs) and latent transforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein and proteoglycan components (PubMed:27026396). Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity). Negatively regulates osteoclastogenesis by binding and sequestering an osteoclast differentiation and activation factor TNFSF11. This leads to disruption of TNFSF11-induced Ca(2+) signaling and impairment of TNFSF11-mediated nuclear translocation and activation of transcription factor NFATC1 which regulates genes important for osteoclast differentiation and function (PubMed:24039232). Mediates cell adhesion via its binding to cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1 (PubMed:12807887, PubMed:17158881). Binds heparin and this interaction has an important role in the assembly of microfibrils (PubMed:11461921).',NULL,NULL,NULL,NULL,NULL),(5332,'UniProt Function',NULL,6547,NULL,'Asprosin: Hormone that targets the liver to increase plasma glucose levels. Secreted by white adipose tissue and circulates in the plasma. Acts in response to fasting and promotes blood glucose elevation by binding to the surface of hepatocytes. Promotes hepatocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation.',NULL,NULL,NULL,NULL,NULL),(5333,'UniProt Function',NULL,6549,NULL,'Structure-specific nuclease with 5\'-flap endonuclease and 5\'-3\' exonuclease activities involved in DNA replication and repair. During DNA replication, cleaves the 5\'-overhanging flap structure that is generated by displacement synthesis when DNA polymerase encounters the 5\'-end of a downstream Okazaki fragment. It enters the flap from the 5\'-end and then tracks to cleave the flap base, leaving a nick for ligation. Also involved in the long patch base excision repair (LP-BER) pathway, by cleaving within the apurinic/apyrimidinic (AP) site-terminated flap. Acts as a genome stabilization factor that prevents flaps from equilibrating into structurs that lead to duplications and deletions. Also possesses 5\'-3\' exonuclease activity on nicked or gapped double-stranded DNA, and exhibits RNase H activity. Also involved in replication and repair of rDNA and in repairing mitochondrial DNA.',NULL,NULL,NULL,NULL,NULL),(5334,'UniProt Function',NULL,6552,NULL,'Has hepatocyte mitogenic activity.',NULL,NULL,NULL,NULL,NULL),(5335,'UniProt Function',NULL,6553,NULL,'May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and acts in cooperation with NCOA2 and CARM1. Involved in estrogen hormone signaling. Involved in early embryonic development (By similarity). May play a role in regulation of cytoskeletal rearrangements involved in cytokinesis and cell migration, by inhibiting Rac1-dependent paxillin phosphorylation.',NULL,NULL,NULL,NULL,NULL),(5336,'UniProt Function',NULL,6555,NULL,'Variant histone specifically required to direct the transformation of dissociating nucleosomes to protamine in male germ cells (By similarity). Entirely replaces classical histone H2B prior nucleosome to protamine transition and probably acts as a nucleosome dissociating factor that creates a more dynamic chromatin, facilitating the large-scale exchange of histones (By similarity). Core component of nucleosome (By similarity). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template (By similarity). Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability (By similarity). DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (By similarity). Also found in fat cells, its function and the presence of post-translational modifications specific to such cells are still unclear (PubMed:21249133).',NULL,NULL,NULL,NULL,NULL),(5337,'UniProt Function',NULL,6556,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(5338,'UniProt Function',NULL,6556,NULL,'Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid.',NULL,NULL,NULL,NULL,NULL),(5339,'UniProt Function',NULL,6557,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(5340,'UniProt Function',NULL,6558,NULL,'Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.',NULL,NULL,NULL,NULL,NULL),(5341,'UniProt Function',NULL,6559,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(5342,'UniProt Function',NULL,6560,NULL,'Catalyzes the reduction of saturated but not unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols. A lower activity can be observed with shorter fatty acyl-CoA substrates (PubMed:15220348). It may play a role in the production of ether lipids/plasmalogens and wax monoesters which synthesis requires fatty alcohols as substrates (By similarity).',NULL,NULL,NULL,NULL,NULL),(5343,'UniProt Function',NULL,6562,NULL,'Non-receptor protein-tyrosine kinase that regulates reorganization of the actin cytoskeleton, cell polarization, cell migration, adhesion, spreading and bone remodeling. Plays a role in the regulation of the humoral immune response, and is required for normal levels of marginal B-cells in the spleen and normal migration of splenic B-cells. Required for normal macrophage polarization and migration towards sites of inflammation. Regulates cytoskeleton rearrangement and cell spreading in T-cells, and contributes to the regulation of T-cell responses. Promotes osteoclastic bone resorption; this requires both PTK2B/PYK2 and SRC. May inhibit differentiation and activity of osteoprogenitor cells. Functions in signaling downstream of integrin and collagen receptors, immune receptors, G-protein coupled receptors (GPCR), cytokine, chemokine and growth factor receptors, and mediates responses to cellular stress. Forms multisubunit signaling complexes with SRC and SRC family members upon activation; this leads to the phosphorylation of additional tyrosine residues, creating binding sites for scaffold proteins, effectors and substrates. Regulates numerous signaling pathways. Promotes activation of phosphatidylinositol 3-kinase and of the AKT1 signaling cascade. Promotes activation of NOS3. Regulates production of the cellular messenger cGMP. Promotes activation of the MAP kinase signaling cascade, including activation of MAPK1/ERK2, MAPK3/ERK1 and MAPK8/JNK1. Promotes activation of Rho family GTPases, such as RHOA and RAC1. Recruits the ubiquitin ligase MDM2 to P53/TP53 in the nucleus, and thereby regulates P53/TP53 activity, P53/TP53 ubiquitination and proteasomal degradation. Acts as a scaffold, binding to both PDPK1 and SRC, thereby allowing SRC to phosphorylate PDPK1 at \'Tyr-9, \'Tyr-373\', and \'Tyr-376\'. Promotes phosphorylation of NMDA receptors by SRC family members, and thereby contributes to the regulation of NMDA receptor ion channel activity and intracellular Ca(2+) levels. May also regulate potassium ion transport by phosphorylation of potassium channel subunits. Phosphorylates SRC; this increases SRC kinase activity. Phosphorylates ASAP1, NPHP1, KCNA2 and SHC1. Promotes phosphorylation of ASAP2, RHOU and PXN; this requires both SRC and PTK2/PYK2.',NULL,NULL,NULL,NULL,NULL),(5344,'UniProt Function',NULL,6563,NULL,'May play a role in axonal development.',NULL,NULL,NULL,NULL,NULL),(5345,'UniProt Function',NULL,6564,NULL,'DNA repair protein required for FANCD2 ubiquitination.',NULL,NULL,NULL,NULL,NULL),(5346,'UniProt Function',NULL,6565,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5347,'UniProt Function',NULL,6566,NULL,'Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Specifically recognizes p53/TP53, promoting its ubiquitination and degradation.',NULL,NULL,NULL,NULL,NULL),(5348,'UniProt Function',NULL,6567,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Promotes the proteasome-dependent degradation of key sarcomeric proteins, such as alpha-actinin (ACTN2) and filamin-C (FLNC), essential for maintenance of normal contractile function.',NULL,NULL,NULL,NULL,NULL),(5349,'UniProt Function',NULL,6568,NULL,'May bind to the Fc region of immunoglobulins gamma with a low affinity compared to FCGR1A. May function in the humoral immune response.',NULL,NULL,NULL,NULL,NULL),(5350,'UniProt Function',NULL,6569,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of AURKA during mitosis, causing mitotic arrest.',NULL,NULL,NULL,NULL,NULL),(5351,'UniProt Function',NULL,6571,NULL,'Probable substrate-recognition component of a SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Overexpression is leading to degradation of CBX5 and CBX1.',NULL,NULL,NULL,NULL,NULL),(5352,'UniProt Function',NULL,6572,NULL,'Serves as an anchoring site for cell-ECM adhesion proteins and filamin-containing actin filaments. Is implicated in cell shape modulation (spreading) and motility. May participate in the regulation of filamin-mediated cross-linking and stabilization of actin filaments. May also regulate the assembly of filamin-containing signaling complexes that control actin assembly. Promotes dissociation of FLNA from ITGB3 and ITGB7. Promotes activation of integrins and regulates integrin-mediated cell-cell adhesion.',NULL,NULL,NULL,NULL,NULL),(5353,'UniProt Function',NULL,6573,NULL,'Substrate recognition component of both SCF (SKP1-CUL1-F-box protein) and DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes. Substrate recognition component of the SCF(FBXW5) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SASS6 during S phase, leading to prevent centriole reduplication. The SCF(FBXW5) complex also mediates ubiquitination and degradation of actin-regulator EPS8 during G2 phase, leading to the transient degradation of EPS8 and subsequent cell shape changes required to allow mitotic progression. Substrate-specific adapter of the DCX(FBXW5) E3 ubiquitin-protein ligase complex which mediates the polyubiquitination and subsequent degradation of TSC2. May also act as a negative regulator of MAP3K7/TAK1 signaling in the interleukin-1B (IL1B) signaling pathway.',NULL,NULL,NULL,NULL,NULL),(5354,'UniProt Function',NULL,6574,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. The SCF(FBXO10) complex mediates ubiquitination and degradation of BCL2, an antiapoptotic protein, thereby playing a role in apoptosis by controlling the stability of BCL2.',NULL,NULL,NULL,NULL,NULL),(5355,'UniProt Function',NULL,6575,NULL,'May function as an activating coreceptor in B-cells. May function in B-cells activation and differentiation.',NULL,NULL,NULL,NULL,NULL),(5356,'UniProt Function',NULL,6576,NULL,'PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.',NULL,NULL,NULL,NULL,NULL),(5357,'UniProt Function',NULL,6577,NULL,'Catalyzes the transfer of a malonyl moiety from malonyl-CoA to the free thiol group of the phosphopantetheine arm of the mitochondrial ACP protein (NDUFAB1). This suggests the existence of the biosynthesis of fatty acids in mitochondria.',NULL,NULL,NULL,NULL,NULL),(5358,'UniProt Function',NULL,6578,NULL,'May play a role in ciliogenesis (PubMed:27528616). In cooperation with CBY1 may facilitate ciliogenesis likely by the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis (PubMed:27528616).',NULL,NULL,NULL,NULL,NULL),(5359,'UniProt Function',NULL,6579,NULL,'Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes monounsaturated substrate anandamide preferentially as compared to polyunsaturated substrates.',NULL,NULL,NULL,NULL,NULL),(5360,'UniProt Function',NULL,6581,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(5361,'UniProt Function',NULL,6582,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(5362,'UniProt Function',NULL,6583,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(5363,'UniProt Function',NULL,6584,NULL,'Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N-smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE.',NULL,NULL,NULL,NULL,NULL),(5364,'UniProt Function',NULL,6585,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (By similarity).',NULL,NULL,NULL,NULL,NULL),(5365,'UniProt Function',NULL,6586,NULL,'Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. Following DNA damage recognizes and binds \'Lys-63\'-linked ubiquitin generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via interaction with REV1.',NULL,NULL,NULL,NULL,NULL),(5366,'UniProt Function',NULL,6587,NULL,'Regulates the stability of mitochondrial MT-ND3 mRNA (PubMed:28335001).',NULL,NULL,NULL,NULL,NULL),(5367,'UniProt Function',NULL,6588,NULL,'Functions as guanine nucleotide exchange factor that activates RAC1. May have relatively low activity. Plays a role in the response to class 3 semaphorins and remodeling of the actin cytoskeleton. Plays a role in TNFSF11-mediated osteoclast differentiation, especially in podosome rearrangement and reorganization of the actin cytoskeleton. Regulates the activation of ITGB3, integrin signaling and cell adhesion (By similarity).',NULL,NULL,NULL,NULL,NULL),(5368,'UniProt Function',NULL,6589,NULL,'DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity).',NULL,NULL,NULL,NULL,NULL),(5369,'UniProt Function',NULL,6591,NULL,'Receptor for the Fc region of IgG. Binds complexed or aggregated IgG and also monomeric IgG. Mediates antibody-dependent cellular cytotoxicity (ADCC) and other antibody-dependent responses, such as phagocytosis.',NULL,NULL,NULL,NULL,NULL),(5370,'UniProt Function',NULL,6592,NULL,'Acts as a MHC class II receptor (PubMed:20519654). When stimulated on its own, does not play a role in cytokine production or the release of cytotoxic granules by NK cells and cytotoxic CD8(+) T cells (PubMed:17213291, PubMed:18991291). Does not act as an Fc receptor (PubMed:18991291).',NULL,NULL,NULL,NULL,NULL),(5371,'UniProt Function',NULL,6593,NULL,'Fibrillin-3: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide long-term force bearing structural support.',NULL,NULL,NULL,NULL,NULL),(5372,'UniProt Function',NULL,6594,NULL,'Can bind to the surface of B-lymphoma cells, but not T-lymphoma cells, consistent with a function as a secreted mediator acting upon B-cells.',NULL,NULL,NULL,NULL,NULL),(5373,'UniProt Function',NULL,6595,NULL,'Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression.',NULL,NULL,NULL,NULL,NULL),(5374,'UniProt Function',NULL,6596,NULL,'Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Could enhance presenilin-mediated amyloid-beta protein 40 generation. Binds to ubiquilins and this interaction is required for efficient degradation of CD3D via the ERAD pathway (PubMed:18307982).',NULL,NULL,NULL,NULL,NULL),(5375,'UniProt Function',NULL,6597,NULL,'Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes polyunsaturated substrate anandamide preferentially as compared to monounsaturated substrates.',NULL,NULL,NULL,NULL,NULL),(5376,'UniProt Function',NULL,6598,NULL,'May play a role in ciliogenesis (By similarity). In cooperation with CBY1 may facilitate ciliogenesis likely by the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis (PubMed:27528616).',NULL,NULL,NULL,NULL,NULL),(5377,'UniProt Function',NULL,6599,NULL,'May act as a defensin against invading fungal microorganisms.',NULL,NULL,NULL,NULL,NULL),(5378,'UniProt Function',NULL,6600,NULL,'May play a role in the interactions between neurites derived from specific subsets of neurons during development.',NULL,NULL,NULL,NULL,NULL),(5379,'UniProt Function',NULL,6601,NULL,'Phosphorylates the splicing regulator TIA1, thereby promoting the inclusion of FAS exon 6, which leads to an mRNA encoding a pro-apoptotic form of the receptor.',NULL,NULL,NULL,NULL,NULL),(5380,'UniProt Function',NULL,6601,NULL,'Isoform 4: Required for the biogenesis of some mitochondrial-encoded mRNAs, specifically stabilizes ND6 (NADH dehydrogenase complex subunit 6) mRNA, and regulates its levels.',NULL,NULL,NULL,NULL,NULL),(5381,'UniProt Function',NULL,6602,NULL,'Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact.',NULL,NULL,NULL,NULL,NULL),(5382,'UniProt Function',NULL,6603,NULL,'Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function in myogenesis.',NULL,NULL,NULL,NULL,NULL),(5383,'UniProt Function',NULL,6604,NULL,'Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a significant role in modulating the neurotrophic activities of APP, particularly soluble APP.',NULL,NULL,NULL,NULL,NULL),(5384,'UniProt Function',NULL,6605,NULL,'Binds to the Fc region of monomeric immunoglobulins gamma (PubMed:7964511, PubMed:10933786). Mediates the selective uptake of IgG from milk and helps newborn animals to acquire passive immunity. IgG in the milk is bound at the apical surface of the intestinal epithelium. The resultant FcRn-IgG complexes are transcytosed across the intestinal epithelium and IgG is released from FcRn into blood or tissue fluids (By similarity). Possible role in transfer of immunoglobulin G from mother to fetus (PubMed:7964511).',NULL,NULL,NULL,NULL,NULL),(5385,'UniProt Function',NULL,6606,NULL,'Component of E3 ubiquitin ligase complexes. Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration (By similarity). Plays a role in the regulation of neurotransmission at mature neurons (By similarity). May control synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation.',NULL,NULL,NULL,NULL,NULL),(5386,'UniProt Function',NULL,6607,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes ubiquitination of CCND1 and its subsequent proteasomal degradation. Recognizes TERF1 and promotes its ubiquitination together with UBE2D1.',NULL,NULL,NULL,NULL,NULL),(5387,'UniProt Function',NULL,6608,NULL,'Regulator of APC activity during mitotic and meiotic cell cycle (PubMed:17485488, PubMed:17234884, PubMed:17875940, PubMed:23708001, PubMed:23708605, PubMed:16921029). During mitotic cell cycle plays a role as both substrate and inhibitor of APC-FZR1 complex (PubMed:29875408, PubMed:17485488, PubMed:17234884, PubMed:17875940, PubMed:23708001, PubMed:23708605, PubMed:16921029). During G1 phase, plays a role as substrate of APC-FZR1 complex E3 ligase (PubMed:29875408). Then switches as an inhibitor of APC-FZR1 complex during S and G2 leading to cell-cycle commitment (PubMed:29875408). As APC inhibitor, prevents the degradation of APC substrates at multiple levels: by interacting with APC and blocking access of APC substrates to the D-box coreceptor, formed by FZR1 and ANAPC10; by suppressing ubiquitin ligation and chain elongation by APC by preventing the UBE2C and UBE2S activities (PubMed:23708605, PubMed:23708001, PubMed:16921029). Plays a role in genome integrity preservation by coordinating DNA replication with mitosis through APC inhibition in interphase to stabilize CCNA2 and GMNN in order to promote mitosis and prevent rereplication and DNA damage-induced cellular senescence (PubMed:17234884, PubMed:17485488, PubMed:17875940). During oocyte maturation, plays a role in meiosis through inactivation of APC-FZR1 complex. Inhibits APC through RPS6KA2 interaction that increases FBXO5 affiniy for CDC20 leading to the metaphase arrest of the second meiotic division before fertilization (By similarity). Controls entry into the first meiotic division through inactivation of APC-FZR1 complex (By similarity). Promotes migration and osteogenic differentiation of mesenchymal stem cells (PubMed:29850565).',NULL,NULL,NULL,NULL,NULL),(5388,'UniProt Function',NULL,6609,NULL,'Receptor for the Fc region of immunoglobulins gamma. Low affinity receptor. Binds complexed or aggregated IgG and also monomeric IgG. Contrary to III-A, is not capable to mediate antibody-dependent cytotoxicity and phagocytosis. May serve as a trap for immune complexes in the peripheral circulation which does not activate neutrophils.',NULL,NULL,NULL,NULL,NULL),(5389,'UniProt Function',NULL,6610,NULL,'High affinity receptor for the Fc region of immunoglobulins gamma. Functions in both innate and adaptive immune responses.',NULL,NULL,NULL,NULL,NULL),(5390,'UniProt Function',NULL,6611,NULL,'Could be involved in the unfolded protein response (UPR) pathway.',NULL,NULL,NULL,NULL,NULL),(5391,'UniProt Function',NULL,6612,NULL,'Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.',NULL,NULL,NULL,NULL,NULL),(5392,'UniProt Function',NULL,6613,NULL,'Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity).',NULL,NULL,NULL,NULL,NULL),(5393,'UniProt Function',NULL,6614,NULL,'Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Mediates VEGF-induced CDC42 activation. May regulate proangiogenic action of VEGF in vascular endothelial cells, including network formation, directional movement and proliferation. May play a role in regulating the actin cytoskeleton and cell shape.',NULL,NULL,NULL,NULL,NULL),(5394,'UniProt Function',NULL,6615,NULL,'May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape (By similarity).',NULL,NULL,NULL,NULL,NULL),(5395,'UniProt Function',NULL,6616,NULL,'Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.',NULL,NULL,NULL,NULL,NULL),(5396,'UniProt Function',NULL,6617,NULL,'Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.',NULL,NULL,NULL,NULL,NULL),(5397,'UniProt Function',NULL,6618,NULL,'Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B. Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 and hence may interfere with FGF signaling.',NULL,NULL,NULL,NULL,NULL),(5398,'UniProt Function',NULL,6619,NULL,'Acts as a carrier protein that release fibroblast-binding factors (FGFs) from the extracellular matrix (EM) storage and thus enhance the mitogenic activity of FGFs. Enhances FGF2 signaling during tissue repair, angiogenesis and in tumor growth.',NULL,NULL,NULL,NULL,NULL),(5399,'UniProt Function',NULL,6620,NULL,'Involved in axonal outgrowth and fasciculation.',NULL,NULL,NULL,NULL,NULL),(5400,'UniProt Function',NULL,6621,NULL,'Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cell-autonomously regulate OSN axon projections. Regulates non-cell-autonomously the layer formation of the olfactory bulb development and the interneurons. May be required for correct rostral migration of the interneuron progenitors (By similarity).',NULL,NULL,NULL,NULL,NULL),(5401,'UniProt Function',NULL,6622,NULL,'Involved in DNA double-strand break (DBS) repair via homologous recombination (HR). Recruited at DSB sites independently of BRCA2, RAD51 and RAD51 paralogs in a H2AX-dependent manner. May regulate osteoblast proliferation and differentiation (PubMed:23754376). May play a role in the control of male meiosis dynamic (By similarity).',NULL,NULL,NULL,NULL,NULL),(5402,'UniProt Function',NULL,6623,NULL,'Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation.',NULL,NULL,NULL,NULL,NULL),(5403,'UniProt Function',NULL,6625,NULL,'Catalyzes the transfer of CDP-ribitol to ribitol 5-phosphate previously attached by FKTN/fukutin of to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:25279699, PubMed:26923585, PubMed:29477842). This constitutes the second step in the formation of the ribose 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:25279699, PubMed:26923585, PubMed:29477842).',NULL,NULL,NULL,NULL,NULL),(5404,'UniProt Function',NULL,6626,NULL,'Intracellular carrier for long-chain fatty acids and related active lipids, such as the endocannabinoid, that regulates the metabolism and actions of the ligands they bind. In addition to the cytosolic transport, selectively delivers specific fatty acids from the cytosol to the nucleus, wherein they activate nuclear receptors (PubMed:22170058). Delivers retinoic acid to the nuclear receptor peroxisome proliferator-activated receptor delta; which promotes proliferation and survival. May also serve as a synaptic carrier of endocannabinoid at central synapses and thus controls retrograde endocannabinoid signaling. Modulates inflammation by regulating PTGES induction via NF-kappa-B activation, and prostaglandin E2 (PGE2) biosynthesis during inflammation (By similarity). May be involved in keratinocyte differentiation (PubMed:8092987).',NULL,NULL,NULL,NULL,NULL),(5405,'UniProt Function',NULL,6627,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(5406,'UniProt Function',NULL,6628,NULL,'Proteolytically removes the C-terminal three residues of farnesylated and geranylated proteins. Seems to be able to process K-Ras, N-Ras, H-Ras, RAP1B and G-gamma-1 (PubMed:10085068).',NULL,NULL,NULL,NULL,NULL),(5407,'UniProt Function',NULL,6629,NULL,'May have hydrolase activity.',NULL,NULL,NULL,NULL,NULL),(5408,'UniProt Function',NULL,6630,NULL,'DNA-dependent ATPase component of the Fanconi anemia (FA) core complex (PubMed:16116422). Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429). In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates (PubMed:20347428, PubMed:20347429). Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX (PubMed:20347429). In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3\'-flap substrates (PubMed:17289582). In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA (PubMed:16116434).',NULL,NULL,NULL,NULL,NULL),(5409,'UniProt Function',NULL,6632,NULL,'Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664).',NULL,NULL,NULL,NULL,NULL),(5410,'UniProt Function',NULL,6633,NULL,'DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.',NULL,NULL,NULL,NULL,NULL),(5411,'UniProt Function',NULL,6634,NULL,'DNA-dependent ATPase and 5\' to 3\' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.',NULL,NULL,NULL,NULL,NULL),(5412,'UniProt Function',NULL,6636,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5413,'UniProt Function',NULL,6637,NULL,'Its binding to fibronectin and some other ligands is calcium dependent. May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).',NULL,NULL,NULL,NULL,NULL),(5414,'UniProt Function',NULL,6638,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5415,'UniProt Function',NULL,6639,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Involved in the endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Prevents formation of cytosolic aggregates of unfolded glycoproteins that have been retrotranslocated into the cytosol. Able to recognize and bind denatured glycoproteins, preferentially those of the high-mannose type (By similarity).',NULL,NULL,NULL,NULL,NULL),(5416,'UniProt Function',NULL,6640,NULL,'Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in G1 arrest following DNA damage. Specifically recognizes phosphorylated cyclin-D1 (CCND1), promoting its ubiquitination and degradation by the proteasome, resulting in G1 arrest. May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(5417,'UniProt Function',NULL,6641,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. SCF(FBXW11) mediates the ubiquitination of phosphorylated CTNNB1 and participates in Wnt signaling. SCF(FBXW11) mediates the ubiquitination of phosphorylated NFKBIA, which degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription. SCF(FBXW11) mediates the ubiquitination of IFNAR1. SCF(FBXW11) mediates the ubiquitination of CEP68; this is required for centriole separation during mitosis (PubMed:25503564). Involved in the oxidative stress-induced a ubiquitin-mediated decrease in RCAN1. Mediates the degradation of CDC25A induced by ionizing radiation in cells progressing through S phase and thus may function in the intra-S-phase checkpoint. Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 and phosphorylated PER2. SCF(FBXW11) mediates the ubiquitination of CYTH1, and probably CYTH2 (PubMed:29420262).',NULL,NULL,NULL,NULL,NULL),(5418,'UniProt Function',NULL,6641,NULL,'(Microbial infection) Target of human immunodeficiency virus type 1 (HIV-1) protein VPU to polyubiquitinate and deplete BST2 from cells and antagonize its antiviral action.',NULL,NULL,NULL,NULL,NULL),(5419,'UniProt Function',NULL,6642,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes BIRC2 and DLGAP5. Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination.',NULL,NULL,NULL,NULL,NULL),(5420,'UniProt Function',NULL,6643,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5421,'UniProt Function',NULL,6644,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(5422,'UniProt Function',NULL,6644,NULL,'Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid.',NULL,NULL,NULL,NULL,NULL),(5423,'UniProt Function',NULL,6645,NULL,'Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Probably acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation (Probable).',NULL,NULL,NULL,NULL,NULL),(5424,'UniProt Function',NULL,6646,NULL,'Low-affinity receptor for immunoglobulin E (IgE) and CR2/CD21. Has essential roles in the regulation of IgE production and in the differentiation of B-cells (it is a B-cell-specific antigen).',NULL,NULL,NULL,NULL,NULL),(5425,'UniProt Function',NULL,6647,NULL,'Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.',NULL,NULL,NULL,NULL,NULL),(5426,'UniProt Function',NULL,6649,NULL,'Adapter protein containing an immunoreceptor tyrosine-based activation motif (ITAM) that transduces activation signals from various immunoreceptors. As a component of the high-affinity immunoglobulin E (IgE) receptor, mediates allergic inflammatory signaling in mast cells. As a constitutive component of interleukin-3 receptor complex, selectively mediates interleukin 4/IL4 production by basophils, priming T-cells toward effector T-helper 2 subset. Associates with pattern recognition receptors CLEC4D and CLEC4E to form a functional signaling complex in myeloid cells. Binding of mycobacterial trehalose 6,6\'-dimycolate (TDM) to this receptor complex leads to phosphorylation of ITAM, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes. May function cooperatively with other activating receptors. Functionally linked to integrin beta-2/ITGB2-mediated neutrophil activation. Also involved in integrin alpha-2/ITGA2-mediated platelet activation.',NULL,NULL,NULL,NULL,NULL),(5427,'UniProt Function',NULL,6650,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(5428,'UniProt Function',NULL,6651,NULL,'May function in innate immunity through activation of the lectin complement pathway. Calcium-dependent and GlcNAc-binding lectin. Enhances phagocytosis of S.typhimurium by neutrophils, suggesting an opsonic effect via the collagen region.',NULL,NULL,NULL,NULL,NULL),(5429,'UniProt Function',NULL,6652,NULL,'Essential for heme A and Fe/S protein biosynthesis.',NULL,NULL,NULL,NULL,NULL),(5430,'UniProt Function',NULL,6654,NULL,'Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development.',NULL,NULL,NULL,NULL,NULL),(5431,'UniProt Function',NULL,6655,NULL,'Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5\'-CACNAG-3\' with high affinity and on E-box motifs: 5\'-CANNTG-3\' with low affinity (By similarity). May play a role in a functional FA core complex response to DNA cross-link damage, being required for the stability and nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA damage.',NULL,NULL,NULL,NULL,NULL),(5432,'UniProt Function',NULL,6656,NULL,'Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors devoid of kinase activity and contributes to the regulation of immune responses, including neutrophil, monocyte, macrophage and mast cell functions, cytoskeleton remodeling in response to extracellular stimuli, phagocytosis, cell adhesion and migration. Promotes mast cell degranulation, release of inflammatory cytokines and IgE-mediated anaphylaxis. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as MS4A2/FCER1B, FCGR2A and/or FCGR2B. Acts downstream of ITGB1 and ITGB2, and regulates actin cytoskeleton reorganization, cell spreading and adhesion. Depending on the context, activates or inhibits cellular responses. Functions as negative regulator of ITGB2 signaling, phagocytosis and SYK activity in monocytes. Required for normal ITGB1 and ITGB2 signaling, normal cell spreading and adhesion in neutrophils and macrophages. Functions as positive regulator of cell migration and regulates cytoskeleton reorganization via RAC1 activation. Phosphorylates SYK (in vitro) and promotes SYK-dependent activation of AKT1 and MAP kinase signaling. Phosphorylates PLD2 in antigen-stimulated mast cells, leading to PLD2 activation and the production of the signaling molecules lysophosphatidic acid and diacylglycerol. Promotes activation of PIK3R1. Phosphorylates FASLG, and thereby regulates its ubiquitination and subsequent internalization. Phosphorylates ABL1. Promotes phosphorylation of CBL, CTTN, PIK3R1, PTK2/FAK1, PTK2B/PYK2 and VAV2. Phosphorylates HCLS1 that has already been phosphorylated by SYK, but not unphosphorylated HCLS1.',NULL,NULL,NULL,NULL,NULL),(5433,'UniProt Function',NULL,6657,NULL,'Plays an important role in the regulation of cell proliferation, cell differentiation and cell migration. Required for normal ossification and bone development. Stimulates hepatic and intestinal proliferation.',NULL,NULL,NULL,NULL,NULL),(5434,'UniProt Function',NULL,6658,NULL,'Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the immune response via both innate and T-cell mediated pathways.',NULL,NULL,NULL,NULL,NULL),(5435,'UniProt Function',NULL,6659,NULL,'Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as potent mitogen in vitro. Acts as a ligand for FGFR1 and integrins. Binds to FGFR1 in the presence of heparin leading to FGFR1 dimerization and activation via sequential autophosphorylation on tyrosine residues which act as docking sites for interacting proteins, leading to the activation of several signaling cascades. Binds to integrin ITGAV:ITGB3. Its binding to integrin, subsequent ternary complex formation with integrin and FGFR1, and the recruitment of PTPN11 to the complex are essential for FGF1 signaling. Induces the phosphorylation and activation of FGFR1, FRS2, MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:18441324, PubMed:20422052). Can induce angiogenesis (PubMed:23469107).',NULL,NULL,NULL,NULL,NULL),(5436,'UniProt Function',NULL,6660,NULL,'Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing.',NULL,NULL,NULL,NULL,NULL),(5437,'UniProt Function',NULL,6661,NULL,'Acts as a regulator of the antiangiogenic activity on endothelial cells. When overexpressed in endothelial cells, leads to inhibition of cell proliferation and migration and an increase in apoptosis. Inhibits melanoma growth When expressed in tumor-associated vasculature.',NULL,NULL,NULL,NULL,NULL),(5438,'UniProt Function',NULL,6662,NULL,'G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin-sensitive, G(i/o)-alpha family of G proteins. Its activation results in the formation of inositol 1,4,5-trisphosphate, the mobilization of intracellular calcium, the phosphorylation of the MAPK3/ERK1 and MAPK1/ERK2 kinases and the inhibition of intracellular cAMP accumulation (PubMed:12711604). Activated by SCFAs and by beta-hydroxybutyrate, a ketone body produced by the liver upon starvation, it inhibits N-type calcium channels and modulates the activity of sympathetic neurons through a signaling cascade involving the beta and gamma subunits of its coupled G protein, phospholipase C and MAP kinases. Thereby, it may regulate energy expenditure through the control of the sympathetic nervous system that controls for instance heart rate. Upon activation by SCFAs accumulating in the intestine, it may also signal to the brain via neural circuits which in turn would regulate intestinal gluconeogenesis. May also control the production of hormones involved in whole-body energy homeostasis. May for instance, regulate blood pressure through renin secretion. May also regulate secretion of the PYY peptide by enteroendocrine cells and control gut motility, intestinal transit rate, and the harvesting of energy from SCFAs produced by gut microbiota. May also indirectly regulate the production of LEP/Leptin, a hormone acting on the CNS to inhibit food intake, in response to the presence of short-chain fatty acids in the intestine. Finally, may also play a role in glucose homeostasis. Besides its role in energy homeostasis, may play a role in intestinal immunity. May mediate the activation of the inflammatory and immune response by SCFAs in the gut, regulating the rapid production of chemokines and cytokines by intestinal epithelial cells. Among SCFAs, the fatty acids containing less than 6 carbons, the most potent activators are probably propionate, butyrate and pentanoate while acetate is a poor activator (PubMed:12496283, PubMed:12711604).',NULL,NULL,NULL,NULL,NULL),(5439,'UniProt Function',NULL,6663,NULL,'Plays an important role in lipid droplet accumulation.',NULL,NULL,NULL,NULL,NULL),(5440,'UniProt Function',NULL,6664,NULL,'Acts as an inhibitor of dendrite extension and branching.',NULL,NULL,NULL,NULL,NULL),(5441,'UniProt Function',NULL,6665,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(5442,'UniProt Function',NULL,6666,NULL,'RNA-binding protein that functions as regulator of alternative splicing for multiple target mRNAs, including PTPRC/CD45 and STAT5A. Required for alternative splicing of PTPRC.',NULL,NULL,NULL,NULL,NULL),(5443,'UniProt Function',NULL,6667,NULL,'Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses. Negatively regulates T cell activation through negative regulation of IL2 expression by inhibiting calcineurin-NFAT pathway activation through interaction with NFATC2 leading to reduction of interaction between NFATC2 and PPP3CA (PubMed:18218901).',NULL,NULL,NULL,NULL,NULL),(5444,'UniProt Function',NULL,6668,NULL,'Acts as a cofactor for serine ADP-ribosylation by conferring serine specificity on PARP1 and PARP2: interacts with PARP1 and PARP1 and is able to change amino acid specificity toward serine (PubMed:28190768). Promotes histone serine ADP-ribosylation in response to DNA damage, limiting DNA damage-induced PARP1 hyper-automodification, and ensuring genome stability (PubMed:27067600, PubMed:28190768).',NULL,NULL,NULL,NULL,NULL),(5445,'UniProt Function',NULL,6669,NULL,'Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991).',NULL,NULL,NULL,NULL,NULL),(5446,'UniProt Function',NULL,6670,NULL,'Exhibits PLA1/2 activity, catalyzing the calcium-independent hydrolysis of acyl groups in various phosphatidylcholines (PC) and phosphatidylethanolamine (PE). For most substrates, PLA1 activity is much higher than PLA2 activity. N- and O-acylation activity is hardly detectable.',NULL,NULL,NULL,NULL,NULL),(5447,'UniProt Function',NULL,6671,NULL,'catalyzes N-acylation of phosphatidylethanolamine (PE) to generate N-Acylphosphatidylethanolamine (NAPE) a precursor of bioactive N-acylethanolamines, including the endocannabinoid anandamide.',NULL,NULL,NULL,NULL,NULL),(5448,'UniProt Function',NULL,6673,NULL,'Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate, thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a zinc-dependent manner. Binds heparan sulfate on the surface of liver, lung, kidney and heart endothelial cells. Binds to N-sulfated polysaccharide chains on the surface of liver endothelial cells. Inhibits rosette formation. Acts as an adapter protein and is implicated in regulating many processes such as immune complex and pathogen clearance, cell chemotaxis, cell adhesion, angiogenesis, coagulation and fibrinolysis. Mediates clearance of necrotic cells through enhancing the phagocytosis of necrotic cells in a heparan sulfate-dependent pathway. This process can be regulated by the presence of certain HRG ligands such as heparin and zinc ions. Binds to IgG subclasses of immunoglobins containing kappa and lambda light chains with different affinities regulating their clearance and inhibiting the formation of insoluble immune complexes. Tethers plasminogen to the cell surface. Binds T-cells and alters the cell morphology. Modulates angiogenesis by blocking the CD6-mediated antiangiongenic effect of thrombospondins, THBS1 and THBS2. Acts as a regulator of the vascular endothelial growth factor (VEGF) signaling pathway; inhibits endothelial cell motility by reducing VEGF-induced complex formation between PXN/paxillin and ILK/integrin-linked protein kinase and by promoting inhibition of VEGF-induced tyrosine phosphorylation of focal adhesion kinases and alpha-actinins in endothelial cells. Also plays a role in the regulation of tumor angiogenesis and tumor immune surveillance. Normalizes tumor vessels and promotes antitumor immunity by polarizing tumor-associated macrophages, leading to decreased tumor growth and metastasis.',NULL,NULL,NULL,NULL,NULL),(5449,'UniProt Function',NULL,6675,NULL,'Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release (PubMed:26865365).',NULL,NULL,NULL,NULL,NULL),(5450,'UniProt Function',NULL,6677,NULL,'Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state (PubMed:10383393, PubMed:20178975). Plays a role in stress resistance and actin organization (PubMed:19166925). Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins (PubMed:23728742).',NULL,NULL,NULL,NULL,NULL),(5451,'UniProt Function',NULL,6678,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5452,'UniProt Function',NULL,6679,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5453,'UniProt Function',NULL,6680,NULL,'Sequence-specific transcription factor (By similarity). Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior (PubMed:16155570). Also part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments (By similarity). Activates transcription in the presence of PBX1A and PKNOX1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(5454,'UniProt Function',NULL,6681,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5455,'UniProt Function',NULL,6682,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Also binds to its own promoter. Binds specifically to the motif 5\'-CYYNATTA[TG]Y-3\'.',NULL,NULL,NULL,NULL,NULL),(5456,'UniProt Function',NULL,6684,NULL,'Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities. May act as an E3 ligase towards JDP2, enhancing its polyubiquitination. Represses ATF2-dependent transcriptional activation.',NULL,NULL,NULL,NULL,NULL),(5457,'UniProt Function',NULL,6686,NULL,'Catalyzes the initial step in utilization of glucose by the beta-cell and liver at physiological glucose concentration. Glucokinase has a high Km for glucose, and so it is effective only when glucose is abundant. The role of GCK is to provide G6P for the synthesis of glycogen. Pancreatic glucokinase plays an important role in modulating insulin secretion. Hepatic glucokinase helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage.',NULL,NULL,NULL,NULL,NULL),(5458,'UniProt Function',NULL,6687,NULL,'Plays a role as a neuroprotective and antiapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(5459,'UniProt Function',NULL,6688,NULL,'Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1-antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1-alpha. May be essential for development of the liver, kidney and intestine.',NULL,NULL,NULL,NULL,NULL),(5460,'UniProt Function',NULL,6689,NULL,'Transcriptional activator. Binds the consensus sequence 5\'-DHWATTGAYTWWD-3\' on a variety of gene promoters such as those of HNF3B and TTR. Important for liver genes transcription.',NULL,NULL,NULL,NULL,NULL),(5461,'UniProt Function',NULL,6690,NULL,'Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities.',NULL,NULL,NULL,NULL,NULL),(5462,'UniProt Function',NULL,6691,NULL,'Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (PubMed:28398555). May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases (By similarity).',NULL,NULL,NULL,NULL,NULL),(5463,'UniProt Function',NULL,6692,NULL,'May have dioxygenase activity.',NULL,NULL,NULL,NULL,NULL),(5464,'UniProt Function',NULL,6693,NULL,'May be involved in the calcium-dependent regulation of rhodopsin phosphorylation.',NULL,NULL,NULL,NULL,NULL),(5465,'UniProt Function',NULL,6694,NULL,'Key enzyme in the degradation of tyrosine.',NULL,NULL,NULL,NULL,NULL),(5466,'UniProt Function',NULL,6695,NULL,'Primate-specific plasma protein associated with apolipoprotein L-I (apoL-I)-containing high-density lipoprotein (HDL). This HDL particle, termed trypanosome lytic factor-1 (TLF-1), mediates human innate immune protection against many species of African trypanosomes. Binds hemoglobin with high affinity and may contribute to the clearance of cell-free hemoglobin to allow hepatic recycling of heme iron.',NULL,NULL,NULL,NULL,NULL),(5467,'UniProt Function',NULL,6696,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in GlcA2S-GlcNS. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate.',NULL,NULL,NULL,NULL,NULL),(5468,'UniProt Function',NULL,6697,NULL,'Possesses chaperone activity in vitro where it inhibits aggregation of citrate synthase.',NULL,NULL,NULL,NULL,NULL),(5469,'UniProt Function',NULL,6698,NULL,'Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins.',NULL,NULL,NULL,NULL,NULL),(5470,'UniProt Function',NULL,6700,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5471,'UniProt Function',NULL,6701,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5472,'UniProt Function',NULL,6702,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5473,'UniProt Function',NULL,6703,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5474,'UniProt Function',NULL,6704,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5475,'UniProt Function',NULL,6705,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5476,'UniProt Function',NULL,6706,NULL,'E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediates monoubiquitination of DNA polymerase beta (POLB) at \'Lys-41\', \'Lys-61\' and \'Lys-81\', thereby playing a role in base-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation. Mediates polyubiquitination of isoform 2 of PA2G4.',NULL,NULL,NULL,NULL,NULL),(5477,'UniProt Function',NULL,6707,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5478,'UniProt Function',NULL,6708,NULL,'Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). May play a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids (PubMed:22798687).',NULL,NULL,NULL,NULL,NULL),(5479,'UniProt Function',NULL,6709,NULL,'Plays a role in ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(5480,'UniProt Function',NULL,6710,NULL,'E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2L3/UBCM4, and then transfers it to substrates. Functions as an E3 ligase for oxidized IREB2 and both heme and oxygen are necessary for IREB2 ubiquitination. Promotes ubiquitination of TAB2 and IRF3 and their degradation by the proteasome. Component of the LUBAC complex which conjugates linear (\'Met-1\'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex. Together with OTULIN, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. Binds polyubiquitin of different linkage types.',NULL,NULL,NULL,NULL,NULL),(5481,'UniProt Function',NULL,6711,NULL,'May be involved in the calcium-dependent regulation of rhodopsin phosphorylation.',NULL,NULL,NULL,NULL,NULL),(5482,'UniProt Function',NULL,6712,NULL,'This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG).',NULL,NULL,NULL,NULL,NULL),(5483,'UniProt Function',NULL,6713,NULL,'Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix.',NULL,NULL,NULL,NULL,NULL),(5484,'UniProt Function',NULL,6714,NULL,'Component of ribonucleosomes, which are complexes of at least 20 other different heterogenious nuclear ribonucleoproteins (hnRNP). hnRNP play an important role in processing of precursor mRNA in the nucleus.',NULL,NULL,NULL,NULL,NULL),(5485,'UniProt Function',NULL,6715,NULL,'Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro).',NULL,NULL,NULL,NULL,NULL),(5486,'UniProt Function',NULL,6716,NULL,'Exhibits calcium-independent phospholipase activity towards phosphatidylcholine (PC) and phosphatidylethanolamine (PE). Also shows acyltransferase activities, transferring an acyl group of PCs to the amino group of PEs and the hydroxyl group of lyso PCs.',NULL,NULL,NULL,NULL,NULL),(5487,'UniProt Function',NULL,6717,NULL,'Exhibits PLA1/2 activity, catalyzing the calcium-independent hydrolysis of acyl groups in various phosphatidylcholines (PC) and phosphatidylethanolamine (PE). For most substrates, PLA1 activity is much higher than PLA2 activity. Catalyzes N-acylation of PE using both sn-1 and sn-2 palmitoyl groups of PC as acyl donor. Also catalyzes O-acylation converting lyso-PC into PC.',NULL,NULL,NULL,NULL,NULL),(5488,'UniProt Function',NULL,6718,NULL,'Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release (PubMed:26865365). Positive regulator of PRKN translocation to damaged mitochondria (PubMed:24270810).',NULL,NULL,NULL,NULL,NULL),(5489,'UniProt Function',NULL,6720,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site. Also generates GlcUA-GlcNS or IdoUA-GlcNS and IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry.',NULL,NULL,NULL,NULL,NULL),(5490,'UniProt Function',NULL,6721,NULL,'In peripheral tissues, the H1 subclass of histamine receptors mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, and catecholamine release from adrenal medulla, as well as mediating neurotransmission in the central nervous system.',NULL,NULL,NULL,NULL,NULL),(5491,'UniProt Function',NULL,6722,NULL,'Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release (PubMed:26865365). Plays a role in spermatogenesis. In association with SHCBP1L may participate in the maintenance of spindle integrity during meiosis in male germ cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(5492,'UniProt Function',NULL,6723,NULL,'Inhibitor of actin polymerization.',NULL,NULL,NULL,NULL,NULL),(5493,'UniProt Function',NULL,6724,NULL,'Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state. Seems to have versatile functions in various biological processes. Plays a role in regulating muscle function such as smooth muscle vasorelaxation and cardiac myocyte contractility. May regulate myocardial angiogenesis implicating KDR. Overexpression mediates cardioprotection and angiogenesis after induced damage. Stabilizes monomeric YWHAZ thereby supporting YWHAZ chaperone-like activity.',NULL,NULL,NULL,NULL,NULL),(5494,'UniProt Function',NULL,6725,NULL,'Displays temperature-dependent chaperone activity.',NULL,NULL,NULL,NULL,NULL),(5495,'UniProt Function',NULL,6726,NULL,'Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3\'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates. The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase.',NULL,NULL,NULL,NULL,NULL),(5496,'UniProt Function',NULL,6727,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5497,'UniProt Function',NULL,6728,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5498,'UniProt Function',NULL,6729,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5499,'UniProt Function',NULL,6730,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5500,'UniProt Function',NULL,6731,NULL,'Sequence-specific transcription factor that binds gene promoters and activates their transcription (PubMed:24789103). Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5501,'UniProt Function',NULL,6732,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5502,'UniProt Function',NULL,6733,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5503,'UniProt Function',NULL,6734,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5504,'UniProt Function',NULL,6737,NULL,'Function as a stress-inducible and DNA-binding transcription factor that plays a central role in the transcriptional activation of the heat shock response (HSR), leading to the expression of a large class of molecular chaperones heat shock proteins (HSPs) that protect cells from cellular insults\' damage (PubMed:1871105, PubMed:11447121, PubMed:1986252, PubMed:7760831, PubMed:7623826, PubMed:8946918, PubMed:8940068, PubMed:9341107, PubMed:9121459, PubMed:9727490, PubMed:9499401, PubMed:9535852, PubMed:12659875, PubMed:12917326, PubMed:15016915, PubMed:25963659, PubMed:26754925). In unstressed cells, is present in a HSP90-containing multichaperone complex that maintains it in a non-DNA-binding inactivated monomeric form (PubMed:9727490, PubMed:11583998, PubMed:16278218). Upon exposure to heat and other stress stimuli, undergoes homotrimerization and activates HSP gene transcription through binding to site-specific heat shock elements (HSEs) present in the promoter regions of HSP genes (PubMed:1871105, PubMed:1986252, PubMed:8455624, PubMed:7935471, PubMed:7623826, PubMed:8940068, PubMed:9727490, PubMed:9499401, PubMed:10359787, PubMed:11583998, PubMed:12659875, PubMed:16278218, PubMed:25963659, PubMed:26754925). Activation is reversible, and during the attenuation and recovery phase period of the HSR, returns to its unactivated form (PubMed:11583998, PubMed:16278218). Binds to inverted 5\'-NGAAN-3\' pentamer DNA sequences (PubMed:1986252, PubMed:26727489). Binds to chromatin at heat shock gene promoters (PubMed:25963659). Plays also several other functions independently of its transcriptional activity. Involved in the repression of Ras-induced transcriptional activation of the c-fos gene in heat-stressed cells (PubMed:9341107). Positively regulates pre-mRNA 3\'-end processing and polyadenylation of HSP70 mRNA upon heat-stressed cells in a symplekin (SYMPK)-dependent manner (PubMed:14707147). Plays a role in nuclear export of stress-induced HSP70 mRNA (PubMed:17897941). Plays a role in the regulation of mitotic progression (PubMed:18794143). Plays also a role as a negative regulator of non-homologous end joining (NHEJ) repair activity in a DNA damage-dependent manner (PubMed:26359349). Involved in stress-induced cancer cell proliferation in a IER5-dependent manner (PubMed:26754925).',NULL,NULL,NULL,NULL,NULL),(5505,'UniProt Function',NULL,6737,NULL,'(Microbial infection) Plays a role in latent human immunodeficiency virus (HIV-1) transcriptional reactivation. Binds to the HIV-1 long terminal repeat promoter (LTR) to reactivate viral transcription by recruiting cellular transcriptional elongation factors, such as CDK9, CCNT1 and EP300.',NULL,NULL,NULL,NULL,NULL),(5506,'UniProt Function',NULL,6738,NULL,'Has peptide-independent ATPase activity.',NULL,NULL,NULL,NULL,NULL),(5507,'UniProt Function',NULL,6739,NULL,'Oxidoreductase required for tumor suppression. NAPDH-bound form inhibits nuclear import by competing with nuclear import substrates for binding to a subset of nuclear transport receptors. May act as a redox sensor linked to transcription through regulation of nuclear import. Isoform 1 is a metastasis suppressor with proapoptotic as well as antiangiogenic properties. Isoform 2 has an antiapoptotic effect.',NULL,NULL,NULL,NULL,NULL),(5508,'UniProt Function',NULL,6741,NULL,'Serine protease that cleaves beta-casein/CSN2 as well as several extracellular matrix (ECM) proteoglycans such as decorin/DCN, biglycan/BGN and fibronectin/FN1. Inhibits signaling mediated by TGF-beta family proteins possibly indirectly by degradation of these ECM proteoglycans (By similarity). May act as a tumor suppressor. Negatively regulates, in vitro, trophoblast invasion during placental development and may be involved in the development of the placenta in vivo. May also have a role in ovarian development, granulosa cell differentiation and luteinization (PubMed:21321049, PubMed:22229724).',NULL,NULL,NULL,NULL,NULL),(5509,'UniProt Function',NULL,6743,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5510,'UniProt Function',NULL,6744,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5511,'UniProt Function',NULL,6745,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5512,'UniProt Function',NULL,6746,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5513,'UniProt Function',NULL,6747,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5514,'UniProt Function',NULL,6748,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5515,'UniProt Function',NULL,6749,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5516,'UniProt Function',NULL,6750,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5517,'UniProt Function',NULL,6751,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5518,'UniProt Function',NULL,6752,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5519,'UniProt Function',NULL,6754,NULL,'The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL20RA/IL10RB dimer is a receptor for IL26.',NULL,NULL,NULL,NULL,NULL),(5520,'UniProt Function',NULL,6755,NULL,'Facilitates sperm penetration into the layer of cumulus cells surrounding the egg by digesting hyaluronic acid. Involved in induction of the acrosome reaction in the sperm. Involved in follicular atresia, the breakdown of immature ovarian follicles that are not selected to ovulate. Induces ovarian granulosa cell apoptosis, possibly via apoptotic signaling pathway involving CASP8 and CASP3 activation, and poly(ADP-ribose) polymerase (PARP) cleavage. Has no hyaluronidase activity in embryonic fibroblasts in vitro. Has no hyaluronidase activity in granulosa cells in vitro.',NULL,NULL,NULL,NULL,NULL),(5521,'UniProt Function',NULL,6756,NULL,'Receptor for interleukin-11. The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of proliferation and/or differentiation of skeletogenic progenitor or other mesenchymal cells. Essential for the normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number.',NULL,NULL,NULL,NULL,NULL),(5522,'UniProt Function',NULL,6757,NULL,'Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade.',NULL,NULL,NULL,NULL,NULL),(5523,'UniProt Function',NULL,6758,NULL,'Receptor for interleukin-12. This subunit is the signaling component coupling to the JAK2/STAT4 pathway. Promotes the proliferation of T-cells as well as NK cells. Induces the promotion of T-cells towards the Th1 phenotype by strongly enhancing IFN-gamma production.',NULL,NULL,NULL,NULL,NULL),(5524,'UniProt Function',NULL,6759,NULL,'Binds with low affinity to interleukin-13 (IL13). Together with IL4RA can form a functional receptor for IL13. Also serves as an alternate accessory protein to the common cytokine receptor gamma chain for interleukin-4 (IL4) signaling, but cannot replace the function of IL2RG in allowing enhanced interleukin-2 (IL2) binding activity.',NULL,NULL,NULL,NULL,NULL),(5525,'UniProt Function',NULL,6760,NULL,'Putative serine protease inhibitor.',NULL,NULL,NULL,NULL,NULL),(5526,'UniProt Function',NULL,6761,NULL,'Inhibits HSPA1A chaperone activity by changing the conformation of the ATP-binding domain of HSPA1A and interfering with ATP binding. Interferes with ubiquitination mediated by STUB1 and inhibits chaperone-assisted degradation of immature CFTR.',NULL,NULL,NULL,NULL,NULL),(5527,'UniProt Function',NULL,6762,NULL,'One of the major pre-mRNA-binding proteins. Binds tenaciously to poly(C) sequences. Likely to play a role in the nuclear metabolism of hnRNAs, particularly for pre-mRNAs that contain cytidine-rich sequences. Can also bind poly(C) single-stranded DNA. Plays an important role in p53/TP53 response to DNA damage, acting at the level of both transcription activation and repression. When sumoylated, acts as a transcriptional coactivator of p53/TP53, playing a role in p21/CDKN1A and 14-3-3 sigma/SFN induction (By similarity). As far as transcription repression is concerned, acts by interacting with long intergenic RNA p21 (lincRNA-p21), a non-coding RNA induced by p53/TP53. This interaction is necessary for the induction of apoptosis, but not cell cycle arrest.',NULL,NULL,NULL,NULL,NULL),(5528,'UniProt Function',NULL,6763,NULL,'Involved in early stages of melanosome biogenesis and maturation.',NULL,NULL,NULL,NULL,NULL),(5529,'UniProt Function',NULL,6765,NULL,'Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal compartment.',NULL,NULL,NULL,NULL,NULL),(5530,'UniProt Function',NULL,6766,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site.',NULL,NULL,NULL,NULL,NULL),(5531,'UniProt Function',NULL,6768,NULL,'Plays a role as a neuroprotective factor. Protects against death induced by multiple different familial Alzheimer disease genes and amyloid-beta proteins in Alzheimer disease. Suppresses apoptosis by binding to BAX and preventing the translocation of BAX from the cytosol to mitochondria. Binds to IGFBP3 and specifically blocks IGFBP3-induced cell death Induces chemotaxis of mononuclear phagocytes via FPR2. Reduces the aggregation and fibrillary formation by suppressing the effect of APP on mononuclear phagocytes and acts by competitively inhibiting the access of FPRL1 to APP.',NULL,NULL,NULL,NULL,NULL),(5532,'UniProt Function',NULL,6770,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5533,'UniProt Function',NULL,6771,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5534,'UniProt Function',NULL,6772,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5535,'UniProt Function',NULL,6773,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5536,'UniProt Function',NULL,6774,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5537,'UniProt Function',NULL,6775,NULL,'Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5538,'UniProt Function',NULL,6775,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5539,'UniProt Function',NULL,6776,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5540,'UniProt Function',NULL,6777,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5541,'UniProt Function',NULL,6778,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5542,'UniProt Function',NULL,6779,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5543,'UniProt Function',NULL,6780,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5544,'UniProt Function',NULL,6781,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to a promoter element of the lactase-phlorizin hydrolase gene.',NULL,NULL,NULL,NULL,NULL),(5545,'UniProt Function',NULL,6782,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5546,'UniProt Function',NULL,6783,NULL,'3\'-> 5\'-exoribonuclease involved in ribosome biogenesis in the processing of the 12S pre-rRNA. Displays a strong specificity for a 3\'-end containing a free hydroxyl group.',NULL,NULL,NULL,NULL,NULL),(5547,'UniProt Function',NULL,6784,NULL,'Specific functional receptor for IL17C. May be signaling through the NF-kappa-B and MAPK pathways. May require TRAF3IP2 /ACT1 for signaling. May be a crucial regulator in innate immunity to bacterial pathogens. Isoform 2 and isoform 4 may be either cytoplasmic inactive or dominant active forms. Isoform 3 and isoform 5 may act as soluble decoy receptors.',NULL,NULL,NULL,NULL,NULL),(5548,'UniProt Function',NULL,6785,NULL,'Isoform A binds to IL-18 and inhibits its activity. Functions as an inhibitor of the early TH1 cytokine response.',NULL,NULL,NULL,NULL,NULL),(5549,'UniProt Function',NULL,6786,NULL,'Required for ciliary motility.',NULL,NULL,NULL,NULL,NULL),(5550,'UniProt Function',NULL,6787,NULL,'Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction (By similarity).',NULL,NULL,NULL,NULL,NULL),(5551,'UniProt Function',NULL,6788,NULL,'Major isoenzyme hydrolyzing the calcium-mobilizing second messenger Ins(1,4,5)P3, this is a signal-terminating reaction.',NULL,NULL,NULL,NULL,NULL),(5552,'UniProt Function',NULL,6789,NULL,'Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity).',NULL,NULL,NULL,NULL,NULL),(5553,'UniProt Function',NULL,6790,NULL,'RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript \'caging\' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation (By similarity). Binds to the 5\'-UTR of the insulin-like growth factor 2 (IGF2) mRNAs. Binding is isoform-specific. Binds to beta-actin/ACTB and MYC transcripts.',NULL,NULL,NULL,NULL,NULL),(5554,'UniProt Function',NULL,6791,NULL,'Seems to be required for maximal rate of protein biosynthesis. Enhances ribosome dissociation into subunits and stabilizes the binding of the initiator Met-tRNA(I) to 40 S ribosomal subunits (By similarity).',NULL,NULL,NULL,NULL,NULL),(5555,'UniProt Function',NULL,6792,NULL,'Binds pre-mRNA and nucleates the assembly of 40S hnRNP particles (PubMed:8264621). Interacts with poly-U tracts in the 3\'-UTR or 5\'-UTR of mRNA and modulates the stability and the level of translation of bound mRNA molecules (PubMed:12509468, PubMed:16010978, PubMed:7567451, PubMed:8264621). Single HNRNPC tetramers bind 230-240 nucleotides. Trimers of HNRNPC tetramers bind 700 nucleotides (PubMed:8264621). May play a role in the early steps of spliceosome assembly and pre-mRNA splicing. N6-methyladenosine (m6A) has been shown to alter the local structure in mRNAs and long non-coding RNAs (lncRNAs) via a mechanism named \'m(6)A-switch\', facilitating binding of HNRNPC, leading to regulation of mRNA splicing (PubMed:25719671).',NULL,NULL,NULL,NULL,NULL),(5556,'UniProt Function',NULL,6793,NULL,'Essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes. Required for the DNA double-strand break-independent, BRCA1-dependent activation of ATR on the sex chromosomes that is essential for normal sex body formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(5557,'UniProt Function',NULL,6795,NULL,'Pre-mRNA binding protein in vivo, binds avidly to poly(G) and poly(U) RNA homopolymers in vitro. Involved in splicing. Acts as a receptor for carcinoembryonic antigen in Kupffer cells, may initiate a series of signaling events leading to tyrosine phosphorylation of proteins and induction of IL-1 alpha, IL-6, IL-10 and tumor necrosis factor alpha cytokines.',NULL,NULL,NULL,NULL,NULL),(5558,'UniProt Function',NULL,6796,NULL,'Heterogenous nuclear ribonucleoprotein (hnRNP) implicated in mRNA processing mechanisms. Component of the CRD-mediated complex that promotes MYC mRNA stability. Isoform 1, isoform 2 and isoform 3 are associated in vitro with pre-mRNA, splicing intermediates and mature mRNA protein complexes. Isoform 1 binds to apoB mRNA AU-rich sequences. Isoform 1 is part of the APOB mRNA editosome complex and may modulate the postranscriptional C to U RNA-editing of the APOB mRNA through either by binding to A1CF (APOBEC1 complementation factor), to APOBEC1 or to RNA itself. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. Interacts in vitro preferentially with poly(A) and poly(U) RNA sequences. Isoform 3 may be involved in cytoplasmic vesicle-based mRNA transport through interaction with synaptotagmins. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma activation assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3\'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation; seems not to be essential for GAIT complex function.',NULL,NULL,NULL,NULL,NULL),(5559,'UniProt Function',NULL,6797,NULL,'May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.',NULL,NULL,NULL,NULL,NULL),(5560,'UniProt Function',NULL,6798,NULL,'DNA- and RNA-binding protein involved in several cellular processes such as nuclear chromatin organization, telomere-length regulation, transcription, mRNA alternative splicing and stability, Xist-mediated transcriptional silencing and mitotic cell progression (PubMed:10490622, PubMed:18082603, PubMed:19029303, PubMed:22325991, PubMed:25986610, PubMed:28622508). Plays a role in the regulation of interphase large-scale gene-rich chromatin organization through chromatin-associated RNAs (caRNAs) in a transcription-dependent manner, and thereby maintains genomic stability (PubMed:1324173, PubMed:8174554, PubMed:28622508). Required for the localization of the long non-coding Xist RNA on the inactive chromosome X (Xi) and the subsequent initiation and maintenance of X-linked transcriptional gene silencing during X-inactivation (By similarity). Plays a role as a RNA polymerase II (Pol II) holoenzyme transcription regulator (PubMed:8174554, PubMed:9353307, PubMed:10490622, PubMed:15711563, PubMed:19617346, PubMed:23811339). Promotes transcription initiation by direct association with the core-TFIIH basal transcription factor complex for the assembly of a functional pre-initiation complex with Pol II in a actin-dependent manner (PubMed:10490622, PubMed:15711563). Blocks Pol II transcription elongation activity by inhibiting the C-terminal domain (CTD) phosphorylation of Pol II and dissociates from Pol II pre-initiation complex prior to productive transcription elongation (PubMed:10490622). Positively regulates CBX5-induced transcriptional gene silencing and retention of CBX5 in the nucleus (PubMed:19617346). Negatively regulates glucocorticoid-mediated transcriptional activation (PubMed:9353307). Key regulator of transcription initiation and elongation in embryonic stem cells upon leukemia inhibitory factor (LIF) signaling (By similarity). Involved in the long non-coding RNA H19-mediated Pol II transcriptional repression (PubMed:23811339). Participates in the circadian regulation of the core clock component ARNTL/BMAL1 transcription (By similarity). Plays a role in the regulation of telomere length (PubMed:18082603). Plays a role as a global pre-mRNA alternative splicing modulator by regulating U2 small nuclear ribonucleoprotein (snRNP) biogenesis (PubMed:22325991). Plays a role in mRNA stability (PubMed:17174306, PubMed:17289661, PubMed:19029303). Component of the CRD-mediated complex that promotes MYC mRNA stabilization (PubMed:19029303). Enhances the expression of specific genes, such as tumor necrosis factor TNFA, by regulating mRNA stability, possibly through binding to the 3\'-untranslated region (UTR) (PubMed:17174306). Plays a role in mitotic cell cycle regulation (PubMed:21242313, PubMed:25986610). Involved in the formation of stable mitotic spindle microtubules (MTs) attachment to kinetochore, spindle organization and chromosome congression (PubMed:21242313). Phosphorylation at Ser-59 by PLK1 is required for chromosome alignement and segregation and progression through mitosis (PubMed:25986610). Contributes also to the targeting of AURKA to mitotic spindle MTs (PubMed:21242313). Binds to double- and single-stranded DNA and RNA, poly(A), poly(C) and poly(G) oligoribonucleotides (PubMed:1628625, PubMed:8068679, PubMed:8174554, PubMed:9204873, PubMed:9405365). Binds to chromatin-associated RNAs (caRNAs) (PubMed:28622508). Associates with chromatin to scaffold/matrix attachment region (S/MAR) elements in a chromatin-associated RNAs (caRNAs)-dependent manner (PubMed:7509195, PubMed:1324173, PubMed:9204873, PubMed:9405365, PubMed:10671544, PubMed:11003645, PubMed:11909954, PubMed:28622508). Binds to the Xist RNA (PubMed:26244333). Binds the long non-coding H19 RNA (PubMed:23811339). Binds to SMN1/2 pre-mRNAs at G/U-rich regions (PubMed:22325991). Binds to small nuclear RNAs (snRNAs) (PubMed:22325991). Binds to the 3\'-UTR of TNFA mRNA (PubMed:17174306). Binds (via RNA-binding RGG-box region) to the long non-coding Xist RNA; this binding is direct and bridges the Xist RNA and the inactive chromosome X (Xi) (By similarity). Also negatively regulates embryonic stem cell differentiation upon LIF signaling (By similarity). Required for embryonic development (By similarity). Binds to brown fat long non-coding RNA 1 (Blnc1); facilitates the recruitment of Blnc1 by ZBTB7B required to drive brown and beige fat development and thermogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5561,'UniProt Function',NULL,6798,NULL,'(Microbial infection) Negatively regulates immunodeficiency virus type 1 (HIV-1) replication by preventing the accumulation of viral mRNA transcripts in the cytoplasm.',NULL,NULL,NULL,NULL,NULL),(5562,'UniProt Function',NULL,6800,NULL,'Plays a role in the trafficking of mitochondria along microtubules. Regulates the kinesin-mediated axonal transport of mitochondria to nerve terminals along microtubules during hypoxia. Participates in the translocation of TRAK2/GRIF1 from the cytoplasm to the mitochondrion. Also plays a role in steroidogenesis through maintenance of mitochondrial abundance and morphology (By similarity).',NULL,NULL,NULL,NULL,NULL),(5563,'UniProt Function',NULL,6801,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5564,'UniProt Function',NULL,6802,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5565,'UniProt Function',NULL,6803,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5566,'UniProt Function',NULL,6804,NULL,'Dehydrogenase that converts trans-4-L-hydroxyproline to delta-1-pyrroline-3-hydroxy-5-carboxylate (Hyp) using ubiquinone-10 as the terminal electron acceptor. Can also use proline as a substrate but with a very much lower efficiency. Does not react with other diastereomers of Hyp: trans-4-D-hydroxyproline and cis-4-L-hydroxyproline. Ubiquininone analogs such as menadione, duroquinone and ubiquinone-1 react more efficiently than oxygen as the terminal electron acceptor during catalysis.',NULL,NULL,NULL,NULL,NULL),(5567,'UniProt Function',NULL,6805,NULL,'May play a dynamic role in flagellar motility.',NULL,NULL,NULL,NULL,NULL),(5568,'UniProt Function',NULL,6806,NULL,'Required for the lysosomal degradation of heparan sulfate and dermatan sulfate.',NULL,NULL,NULL,NULL,NULL),(5569,'UniProt Function',NULL,6807,NULL,'Serine protease that shows proteolytic activity against a non-specific substrate beta-casein. Promotes or induces cell death either by direct binding to and inhibition of BIRC proteins (also called inhibitor of apoptosis proteins, IAPs), leading to an increase in caspase activity, or by a BIRC inhibition-independent, caspase-independent and serine protease activity-dependent mechanism. Cleaves THAP5 and promotes its degradation during apoptosis. Isoform 2 seems to be proteolytically inactive.',NULL,NULL,NULL,NULL,NULL),(5570,'UniProt Function',NULL,6809,NULL,'Mediates the voltage-dependent proton permeability of excitable membranes. Forms a proton-selective channel through which protons may pass in accordance with their electrochemical gradient. Proton efflux, accompanied by membrane depolarization, facilitates acute production of reactive oxygen species in phagocytosis.',NULL,NULL,NULL,NULL,NULL),(5571,'UniProt Function',NULL,6810,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5572,'UniProt Function',NULL,6811,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to sites in the 5\'-flanking sequence of its coding region with various affinities. The consensus sequences of the high and low affinity binding sites are 5\'-TAATGA[CG]-3\' and 5\'-CTAATTTT-3\'.',NULL,NULL,NULL,NULL,NULL),(5573,'UniProt Function',NULL,6812,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5574,'UniProt Function',NULL,6813,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5575,'UniProt Function',NULL,6814,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5576,'UniProt Function',NULL,6815,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5577,'UniProt Function',NULL,6816,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5578,'UniProt Function',NULL,6817,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5579,'UniProt Function',NULL,6818,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5580,'UniProt Function',NULL,6819,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5581,'UniProt Function',NULL,6820,NULL,'Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity).',NULL,NULL,NULL,NULL,NULL),(5582,'UniProt Function',NULL,6821,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5583,'UniProt Function',NULL,6822,NULL,'Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine.',NULL,NULL,NULL,NULL,NULL),(5584,'UniProt Function',NULL,6823,NULL,'Probable lipase.',NULL,NULL,NULL,NULL,NULL),(5585,'UniProt Function',NULL,6824,NULL,'Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP).',NULL,NULL,NULL,NULL,NULL),(5586,'UniProt Function',NULL,6825,NULL,'Plays a role in translation initiation. Translational GTPase that catalyzes the joining of the 40S and 60S subunits to form the 80S initiation complex with the initiator methionine-tRNA in the P-site base paired to the start codon. GTP binding and hydrolysis induces conformational changes in the enzyme that renders it active for productive interactions with the ribosome. The release of the enzyme after formation of the initiation complex is a prerequisite to form elongation-competent ribosomes.',NULL,NULL,NULL,NULL,NULL),(5587,'UniProt Function',NULL,6827,NULL,'Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5\'-terminal secondary structure and recruitment of mRNA to the ribosome.',NULL,NULL,NULL,NULL,NULL),(5588,'UniProt Function',NULL,6828,NULL,'Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm. Behaves as a stimulatory translation initiation factor downstream insulin/growth factors. Is also involved in ribosome biogenesis. Associates with pre-60S subunits in the nucleus and is involved in its nuclear export. Cytoplasmic release of TIF6 from 60S subunits and nuclear relocalization is promoted by a RACK1 (RACK1)-dependent protein kinase C activity (PubMed:10085284, PubMed:14654845, PubMed:21536732). In tissues responsive to insulin, controls fatty acid synthesis and glycolysis by exerting translational control of adipogenic transcription factors such as CEBPB, CEBPD and ATF4 that have G/C rich or uORF in their 5\'UTR. Required for ROS-dependent megakaryocyte maturation and platelets formation, controls the expression of mitochondrial respiratory chain genes involved in reactive oxygen species (ROS) synthesis (By similarity). Involved in miRNA-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA-mediated cleavage of complementary mRNAs by RISC (PubMed:17507929). Modulates cell cycle progression and global translation of pre-B cells, its activation seems to be rate-limiting in tumorigenesis and tumor growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(5589,'UniProt Function',NULL,6829,NULL,'Probable component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5\'-terminal secondary structure and recruitment of mRNA to the ribosome. Thought to be a functional homolog of EIF4G1.',NULL,NULL,NULL,NULL,NULL),(5590,'UniProt Function',NULL,6830,NULL,'Plays a role in apoptosis, negatively regulating the intrinsinc apoptotic signaling pathway and TNFSF10-induced apoptosis (PubMed:15685448, PubMed:17823654, PubMed:26244642). However, it has also been shown to have a pro-apoptotic activity (PubMed:27673746). Has an antiviral activity towards hepatitis C virus/HCV by inhibiting the EGFR signaling pathway, which activation is required for entry of the virus into cells (PubMed:25757571).',NULL,NULL,NULL,NULL,NULL),(5591,'UniProt Function',NULL,6831,NULL,'Catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde).',NULL,NULL,NULL,NULL,NULL),(5592,'UniProt Function',NULL,6832,NULL,'Receptor for IL10; binds IL10 with a high affinity.',NULL,NULL,NULL,NULL,NULL),(5593,'UniProt Function',NULL,6833,NULL,'Shared cell surface receptor required for the activation of five class 2 cytokines: IL10, IL22, IL26, IL28, and IFNL1. The IFNLR1/IL10RB dimer is a receptor for the cytokine ligands IFNL2 and IFNL3 and mediates their antiviral activity. The ligand/receptor complex stimulate the activation of the JAK/STAT signaling pathway leading to the expression of IFN-stimulated genes (ISG), which contribute to the antiviral state.',NULL,NULL,NULL,NULL,NULL),(5594,'UniProt Function',NULL,6834,NULL,'High-affinity receptor for interleukin-15. Can signal both in cis and trans where IL15R from one subset of cells presents IL15 to neighboring IL2RG-expressing cells. Expression of different isoforms may alter or interfere with signal transduction. Isoform 5, isoform 6, isoform 7 and isoform 8 do not bind IL15. Signal transduction involves SYK.',NULL,NULL,NULL,NULL,NULL),(5595,'UniProt Function',NULL,6836,NULL,'May play a role in the regulation of immune cell function. Cytokine that imparts cellular protection against viral infection in a species-specific manner. Activates the interferon-stimulated response element signaling pathway. It is able to directly modulate cytokine release from monocytes and dendritic cells. Binds heparin.',NULL,NULL,NULL,NULL,NULL),(5596,'UniProt Function',NULL,6837,NULL,'This protein aggregates to form microtubular structures.',NULL,NULL,NULL,NULL,NULL),(5597,'UniProt Function',NULL,6838,NULL,'mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(5598,'UniProt Function',NULL,6839,NULL,'Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190).',NULL,NULL,NULL,NULL,NULL),(5599,'UniProt Function',NULL,6840,NULL,'Involved in synaptic inhibition in the brain. Selectively regulates inhibitory presynaptic differentiation through interacting with presynaptic NRXN2.',NULL,NULL,NULL,NULL,NULL),(5600,'UniProt Function',NULL,6841,NULL,'Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans, such as aggrecan, decorin and fibromodulin. Through cleavage of proteoglycans, may release soluble FGF-glycosaminoglycan complexes that promote the range and intensity of FGF signals in the extracellular space. Regulates the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. Inhibits signaling mediated by TGF-beta family members. This activity requires the integrity of the catalytic site, although it is unclear whether TGF-beta proteins are themselves degraded. By acting on TGF-beta signaling, may regulate many physiological processes, including retinal angiogenesis and neuronal survival and maturation during development. Intracellularly, degrades TSC2, leading to the activation of TSC2 downstream targets.',NULL,NULL,NULL,NULL,NULL),(5601,'UniProt Function',NULL,6842,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5602,'UniProt Function',NULL,6843,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5603,'UniProt Function',NULL,6844,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5604,'UniProt Function',NULL,6845,NULL,'Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:26571211). FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system (PubMed:26571211, PubMed:16951682). May also have a role in the beta-catenin/Lef signaling pathway (Probable).',NULL,NULL,NULL,NULL,NULL),(5605,'UniProt Function',NULL,6846,NULL,'DNA-binding protein that seems to act as a transcription factor (PubMed:19584537). Involved in the regulation of neuronal differentiation, acts upon JNK-signaling pathway activation and plays a role in neurite outgrowth in hippocampal cells (By similarity). May mediate with FIBP FGF-signaling in the establishment of laterality in the embryo (By similarity). Promotes cell motility, seems to stimulate tumor metastasis (PubMed:22120713).',NULL,NULL,NULL,NULL,NULL),(5606,'UniProt Function',NULL,6847,NULL,'May play a role in the ERK signaling pathway by inhibiting the dephosphorylation of ERK by phosphatase PP2A-PPP2R5C holoenzyme. Acts also as an ERK downstream effector mediating survival. As a member of the NUPR1/RELB/IER3 survival pathway, may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment.',NULL,NULL,NULL,NULL,NULL),(5607,'UniProt Function',NULL,6848,NULL,'ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5\'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon.',NULL,NULL,NULL,NULL,NULL),(5608,'UniProt Function',NULL,6849,NULL,'Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structures. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates the binding to the mRNA cap.',NULL,NULL,NULL,NULL,NULL),(5609,'UniProt Function',NULL,6851,NULL,'Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation (PubMed:9582349, PubMed:17368478, PubMed:25624349). Acts as a repressor of translation initiation (PubMed:22751931). In contrast to EIF4E, it is unable to bind eIF4G (EIF4G1, EIF4G2 or EIF4G3), suggesting that it acts by competing with EIF4E and block assembly of eIF4F at the cap (By similarity).',NULL,NULL,NULL,NULL,NULL),(5610,'UniProt Function',NULL,6852,NULL,'Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(5611,'UniProt Function',NULL,6853,NULL,'Cytokine that may trigger an antiviral response activating the JAK-STAT pathway and up-regulating specifically some interferon-stimulated genes.',NULL,NULL,NULL,NULL,NULL),(5612,'UniProt Function',NULL,6854,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(5613,'UniProt Function',NULL,6855,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(5614,'UniProt Function',NULL,6856,NULL,'IFN-induced antiviral protein which inhibits expression of viral messenger RNAs lacking 2\'-O-methylation of the 5\' cap. The ribose 2\'-O-methylation would provide a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Viruses evolved several ways to evade this restriction system such as encoding their own 2\'-O-methylase for their mRNAs or by stealing host cap containing the 2\'-O-methylation (cap snatching mechanism). Binds AU-rich viral RNAs, with or without 5\' triphosphorylation, RNA-binding is required for antiviral activity. Can promote apoptosis.',NULL,NULL,NULL,NULL,NULL),(5615,'UniProt Function',NULL,6858,NULL,'Interferon-induced RNA-binding protein involved in the human innate immune response. Has a broad and adaptable RNA structure recognition important for RNA recognition specificity in antiviral defense. Binds precursor and processed tRNAs as well as poly-U-tailed tRNA fragments (PubMed:25092312, PubMed:23317505, PubMed:23774268). Specifically binds single-stranded RNA bearing a 5\'-triphosphate group (PPP-RNA), thereby acting as a sensor of viral single-stranded RNAs. Single-stranded PPP-RNAs, which lack 2\'-O-methylation of the 5\' cap and bear a 5\'-triphosphate group instead, are specific from viruses, providing a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Directly binds PPP-RNA in a non-sequence-specific manner (PubMed:23334420). Also recognizes and selectively binds AT-rich dsDNA (PubMed:23774268). Additionally, as a mediator in innate immunity, regulates positively IKK-NFKB signaling by sinergizing the recruitment of IKK to MAP3K7 (PubMed:26334375).',NULL,NULL,NULL,NULL,NULL),(5616,'UniProt Function',NULL,6859,NULL,'Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits.',NULL,NULL,NULL,NULL,NULL),(5617,'UniProt Function',NULL,6860,NULL,'Enhances PDGFA-stimulated cell growth in fibroblasts, but inhibits the mitogenic effect of PDGFB.',NULL,NULL,NULL,NULL,NULL),(5618,'UniProt Function',NULL,6861,NULL,'Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.',NULL,NULL,NULL,NULL,NULL),(5619,'UniProt Function',NULL,6862,NULL,'Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.',NULL,NULL,NULL,NULL,NULL),(5620,'UniProt Function',NULL,6863,NULL,'Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(5621,'UniProt Function',NULL,6864,NULL,'Serine/threonine-protein kinase involved in transcription regulation and TNF-mediated cellular apoptosis. Plays a role as a corepressor for homeodomain transcription factors. Phosphorylates DAXX and MYB. Phosphorylates DAXX in response to stress, and mediates its translocation from the nucleus to the cytoplasm. Inactivates MYB transcription factor activity by phosphorylation. Prevents MAP3K5-JNK activation in the absence of TNF. TNF triggers its translocation to the cytoplasm in response to stress stimuli, thus activating nuclear MAP3K5-JNK by derepression and promoting apoptosis. May be involved in anti-oxidative stress responses. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. Promotes angiogenesis and to be involved in erythroid differentiation. May be involved in malignant squamous cell tumor formation.',NULL,NULL,NULL,NULL,NULL),(5622,'UniProt Function',NULL,6866,NULL,'Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine 5\'monophosphoramidate (AMP-NH2), adenosine 5\'monophosphomorpholidate (AMP-morpholidate) and guanosine 5\'monophosphomorpholidate (GMP-morpholidate). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP (GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester. Can also convert adenosine 5\'-O-phosphorothioate and guanosine 5\'-O-phosphorothioate to the corresponding nucleoside 5\'-O-phosphates with concomitant release of hydrogen sulfide. In addition, functions as scaffolding protein that modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex and by the complex formed with MITF and CTNNB1. Modulates p53/TP53 levels and p53/TP53-mediated apoptosis. Modulates proteasomal degradation of target proteins by the SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(5623,'UniProt Function',NULL,6867,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5624,'UniProt Function',NULL,6868,NULL,'Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.',NULL,NULL,NULL,NULL,NULL),(5625,'UniProt Function',NULL,6869,NULL,'V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(5626,'UniProt Function',NULL,6870,NULL,'The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL22RA1/IL20RB dimer is a receptor for IL20 and IL24.',NULL,NULL,NULL,NULL,NULL),(5627,'UniProt Function',NULL,6871,NULL,'Component of the receptor for IL20, IL22 and IL24. Component of IL22 receptor formed by IL22RA1 and IL10RB enabling IL22 signaling via JAK/STAT pathways. IL22 also induces activation of MAPK1/MAPK3 and Akt kinases pathways. Component of one of the receptor for IL20 and IL24 formed by IL22RA1 and IL20RB also signaling through STATs activation. Mediates IL24 antiangiogenic activity as well as IL24 inhibitory effect on endothelial cell tube formation and differentiation.',NULL,NULL,NULL,NULL,NULL),(5628,'UniProt Function',NULL,6872,NULL,'Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport (PubMed:20889716, PubMed:22503633). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance (PubMed:22503633). Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(5629,'UniProt Function',NULL,6875,NULL,'Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655).',NULL,NULL,NULL,NULL,NULL),(5630,'UniProt Function',NULL,6876,NULL,'Transcriptional activator which binds specifically to the MEF2 element, 5\'-YTA[AT](4)TAR-3\', found in numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter.',NULL,NULL,NULL,NULL,NULL),(5631,'UniProt Function',NULL,6877,NULL,'Binds to the IL-1 type I receptor following IL-1 engagement, triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization.',NULL,NULL,NULL,NULL,NULL),(5632,'UniProt Function',NULL,6878,NULL,'Inhibits dissociation of IRAK1 and IRAK4 from the Toll-like receptor signaling complex by either inhibiting the phosphorylation of IRAK1 and IRAK4 or stabilizing the receptor complex.',NULL,NULL,NULL,NULL,NULL),(5633,'UniProt Function',NULL,6879,NULL,'Guanine nucleotide exchange factor for ARF1 and ARF6 (PubMed:24058294). Guanine nucleotide exchange factor activity is enhanced by lipid binding (PubMed:24058294). Accelerates GTP binding by ARFs of all three classes. Guanine nucleotide exchange protein for ARF6, mediating internalisation of beta-1 integrin.',NULL,NULL,NULL,NULL,NULL),(5634,'UniProt Function',NULL,6880,NULL,'Involved in transcriptional regulation. Binds to HOX or PBX proteins to form dimers, or to a DNA-bound dimer of PBX and HOX proteins and thought to have a role in stabilization of the homeoprotein-DNA complex. Isoform 3 is required for the activity of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element; MEIS2 is not involved in complex DNA-binding. Probably in complex with PBX1, is involved in transcriptional regulation by KLF4. Isoform 3 and isoform 4 can bind to a EPHA8 promoter sequence containing the DNA motif 5\'-CGGTCA-3\'; in cooperation with a PBX protein (such as PBX2) is proposed to be involved in the transcriptional activation of EPHA8 in the developing midbrain. May be involved in regulation of myeloid differentiation. Can bind to the DNA sequence 5\'-TGACAG-3\'in the activator ACT sequence of the D(1A) dopamine receptor (DRD1) promoter and activate DRD1 transcription; isoform 5 cannot activate DRD1 transcription.',NULL,NULL,NULL,NULL,NULL),(5635,'UniProt Function',NULL,6881,NULL,'Transcriptional factor that defines subclasses of motoneurons that segregate into columns in the spinal cord and select distinct axon pathways.',NULL,NULL,NULL,NULL,NULL),(5636,'UniProt Function',NULL,6883,NULL,'Membrane metallopeptidase that sheds many membrane-bound proteins. Exhibits a strong preference for acidic amino acids at the P1\' position. Known substrates include: FGF19, VGFA, IL1B, IL18, procollagen I and III, E-cadherin, KLK7, gastrin, ADAM10, tenascin-C. The presence of several pro-inflammatory cytokine among substrates implicate MEP1B in inflammation. It is also involved in tissue remodeling due to its capability to degrade extracellular matrix components.',NULL,NULL,NULL,NULL,NULL),(5637,'UniProt Function',NULL,6884,NULL,'Transcription factor that regulates gene expression in intestine. May participate in vitamin A metabolism most likely by regulating BCO1 expression in the intestine (By similarity).',NULL,NULL,NULL,NULL,NULL),(5638,'UniProt Function',NULL,6885,NULL,'Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface.',NULL,NULL,NULL,NULL,NULL),(5639,'UniProt Function',NULL,6886,NULL,'Integrins alpha-4/beta-1 (VLA-4) and alpha-4/beta-7 are receptors for fibronectin. They recognize one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. They are also receptors for VCAM1. Integrin alpha-4/beta-1 recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha-4/beta-7 is also a receptor for MADCAM1. It recognizes the sequence L-D-T in MADCAM1. On activated endothelial cells integrin VLA-4 triggers homotypic aggregation for most VLA-4-positive leukocyte cell lines. It may also participate in cytolytic T-cell interactions with target cells. ITGA4:ITGB1 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGA4:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877).',NULL,NULL,NULL,NULL,NULL),(5640,'UniProt Function',NULL,6887,NULL,'May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes.',NULL,NULL,NULL,NULL,NULL),(5641,'UniProt Function',NULL,6887,NULL,'Contains a potential peptide which could stimulate a broad spectrum of phagocytotic cells.',NULL,NULL,NULL,NULL,NULL),(5642,'UniProt Function',NULL,6888,NULL,'Promotes renal phosphate excretion and inhibits intestinal phosphate absorption (PubMed:14962809, PubMed:19005008). Promotes bone mineralization by osteoblasts and cartilage mineralization by chondrocytes (PubMed:18162525, PubMed:19998030, PubMed:22766095). Regulates the mineralization of the extracellular matrix of the craniofacial complex, such as teeth, bone and cartilage (By similarity). Promotes dental pulp stem cell proliferation and differentiation (PubMed:22341070).',NULL,NULL,NULL,NULL,NULL),(5643,'UniProt Function',NULL,6889,NULL,'Integrin alpha-V/beta-5 (ITGAV:ITGB5) is a receptor for fibronectin. It recognizes the sequence R-G-D in its ligand.',NULL,NULL,NULL,NULL,NULL),(5644,'UniProt Function',NULL,6889,NULL,'(Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for adenovirus type C.',NULL,NULL,NULL,NULL,NULL),(5645,'UniProt Function',NULL,6891,NULL,'Endogenous envelope proteins originate from retroviral envelope proteins, which mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(5646,'UniProt Function',NULL,6892,NULL,'Integrin alpha-V:beta-8 (ITGAV:ITGB8) is a receptor for fibronectin (PubMed:1918072). It recognizes the sequence R-G-D in its ligands (PubMed:1918072). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation on the surface of activated regulatory T-cells (Tregs) (Probable). Required during vasculogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5647,'UniProt Function',NULL,6893,NULL,'Negative regulator of amyloid-beta peptide production. May inhibit the processing of APP by blocking its access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(5648,'UniProt Function',NULL,6894,NULL,'Key regulator of the integrin-mediated cell-matrix interaction signaling by binding to the ITGB1 cytoplasmic tail and preventing the activation of integrin alpha-5/beta-1 (heterodimer of ITGA5 and ITGB1) by talin or FERMT1. Plays a role in cell proliferation, differentiation, spreading, adhesion and migration in the context of mineralization and bone development and angiogenesis. Stimulates cellular proliferation in a fibronectin-dependent manner. Involved in the regulation of beta-1 integrin-containing focal adhesion (FA) site dynamics by controlling its assembly rate during cell adhesion; inhibits beta-1 integrin clustering within FA by directly competing with talin TLN1, and hence stimulates osteoblast spreading and migration in a fibronectin-and/or collagen-dependent manner. Acts as a guanine nucleotide dissociation inhibitor (GDI) by regulating Rho family GTPases during integrin-mediated cell matrix adhesion; reduces the level of active GTP-bound form of both CDC42 and RAC1 GTPases upon cell adhesion to fibronectin. Stimulates the release of active CDC42 from the membranes to maintain it in an inactive cytoplasmic pool. Participates in the translocation of the Rho-associated protein kinase ROCK1 to membrane ruffles at cell leading edges of the cell membrane, leading to an increase of myoblast cell migration on laminin. Plays a role in bone mineralization at a late stage of osteoblast differentiation; modulates the dynamic formation of focal adhesions into fibrillar adhesions, which are adhesive structures responsible for fibronectin deposition and fibrillogenesis. Plays a role in blood vessel development; acts as a negative regulator of angiogenesis by attenuating endothelial cell proliferation and migration, lumen formation and sprouting angiogenesis by promoting AKT phosphorylation and inhibiting ERK1/2 phosphorylation through activation of the Notch signaling pathway. Promotes transcriptional activity of the MYC promoter.',NULL,NULL,NULL,NULL,NULL),(5649,'UniProt Function',NULL,6895,NULL,'Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets (By similarity). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-6/beta-4 (ITGA6:ITGB4) is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome (By similarity). ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464).',NULL,NULL,NULL,NULL,NULL),(5650,'UniProt Function',NULL,6896,NULL,'Integrin alpha-8/beta-1 functions in the genesis of kidney and probably of other organs by regulating the recruitment of mesenchymal cells into epithelial structures. It recognizes the sequence R-G-D in a wide array of ligands including TNC, FN1, SPP1 TGFB1, TGFB3 and VTN. NPNT is probably its functional ligand in kidney genesis. Neuronal receptor for TNC it mediates cell-cell interactions and regulates neurite outgrowth of sensory and motor neurons.',NULL,NULL,NULL,NULL,NULL),(5651,'UniProt Function',NULL,6897,NULL,'Integrin alpha-9/beta-1 (ITGA9:ITGB1) is a receptor for VCAM1, cytotactin and osteopontin. It recognizes the sequence A-E-I-D-G-I-E-L in cytotactin.',NULL,NULL,NULL,NULL,NULL),(5652,'UniProt Function',NULL,6898,NULL,'Integrin alpha-D/beta-2 is a receptor for ICAM3 and VCAM1. May play a role in the atherosclerotic process such as clearing lipoproteins from plaques and in phagocytosis of blood-borne pathogens, particulate matter, and senescent erythrocytes from the blood.',NULL,NULL,NULL,NULL,NULL),(5653,'UniProt Function',NULL,6899,NULL,'Integrin alpha-E/beta-7 is a receptor for E-cadherin. It mediates adhesion of intra-epithelial T-lymphocytes to epithelial cell monolayers.',NULL,NULL,NULL,NULL,NULL),(5654,'UniProt Function',NULL,6900,NULL,'Integrin ITGAM/ITGB2 is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is identical with CR-3, the receptor for the iC3b fragment of the third complement component. It probably recognizes the R-G-D peptide in C3b. Integrin ITGAM/ITGB2 is also a receptor for fibrinogen, factor X and ICAM1. It recognizes P1 and P2 peptides of fibrinogen gamma chain. Regulates neutrophil migration (PubMed:28807980). In association with beta subunit ITGB2/CD18, required for CD177-PRTN3-mediated activation of TNF primed neutrophils (PubMed:21193407). May regulate phagocytosis-induced apoptosis in extravasated neutrophils (By similarity). May play a role in mast cell development (By similarity).',NULL,NULL,NULL,NULL,NULL),(5655,'UniProt Function',NULL,6901,NULL,'Transcription factor. Plays a role in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm. Defines the rostrocaudal patterning of the somites by participating in distinct Notch pathways (By similarity).',NULL,NULL,NULL,NULL,NULL),(5656,'UniProt Function',NULL,6902,NULL,'Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Regulates also the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch activity. Together with MESP1 is involved in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm.',NULL,NULL,NULL,NULL,NULL),(5657,'UniProt Function',NULL,6904,NULL,'Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions.',NULL,NULL,NULL,NULL,NULL),(5658,'UniProt Function',NULL,6905,NULL,'Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory.',NULL,NULL,NULL,NULL,NULL),(5659,'UniProt Function',NULL,6906,NULL,'Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH4 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory (By similarity).',NULL,NULL,NULL,NULL,NULL),(5660,'UniProt Function',NULL,6907,NULL,'Involved in skeletal muscle excitation/contraction coupling (EC), probably acting as a regulator of the voltage-sensitive calcium channel CACNA1S. EC is a physiological process whereby an electrical signal (depolarization of the plasma membrane) is converted into a chemical signal, a calcium gradient, by the opening of ryanodine receptor calcium release channels. May regulate CACNA1S membrane targeting and activity.',NULL,NULL,NULL,NULL,NULL),(5661,'UniProt Function',NULL,6908,NULL,'Modulates negatively AKT-mediated GSK3B signaling (PubMed:21323578, PubMed:22155408). Induces CTNNB1 \'Ser-33\' phosphorylation and degradation through the suppression of the inhibitory \'Ser-9\' phosphorylation of GSK3B, which represses the function of the APC:CTNNB1:GSK3B complex and the interaction with CDH1/E-cadherin in adherent junctions (PubMed:25169422). Plays a role in the regulation of cell cycle and cell adhesion (PubMed:25169422, PubMed:25450365). Has an inhibitory role on AR-signaling pathway through the induction of receptor proteosomal degradation (PubMed:22155408).',NULL,NULL,NULL,NULL,NULL),(5662,'UniProt Function',NULL,6909,NULL,'Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate.',NULL,NULL,NULL,NULL,NULL),(5663,'UniProt Function',NULL,6911,NULL,'Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate.',NULL,NULL,NULL,NULL,NULL),(5664,'UniProt Function',NULL,6912,NULL,'Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism.',NULL,NULL,NULL,NULL,NULL),(5665,'UniProt Function',NULL,6913,NULL,'Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis.',NULL,NULL,NULL,NULL,NULL),(5666,'UniProt Function',NULL,6914,NULL,'Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Active on AMP and dAMP with ATP as a donor. When GTP is used as phosphate donor, the enzyme phosphorylates AMP, CMP, and to a small extent dCMP. Also displays broad nucleoside diphosphate kinase activity.',NULL,NULL,NULL,NULL,NULL),(5667,'UniProt Function',NULL,6915,NULL,'Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity.',NULL,NULL,NULL,NULL,NULL),(5668,'UniProt Function',NULL,6916,NULL,'As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.',NULL,NULL,NULL,NULL,NULL),(5669,'UniProt Function',NULL,6917,NULL,'As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Required for telomere attachment to nuclear envelope in the prophase of meiosis and for rapid telomere prophase movements implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly. Required for homologue pairing during meiotic prophase in spermatocytes and probably oocytes. Essential for male and female gametogenesis. Recruits cytoplasmic dynein to telomere attachment sites at the nuclear envelope in spermatocytes. In oocytes is involved in meiotic resumption and spindle formation.',NULL,NULL,NULL,NULL,NULL),(5670,'UniProt Function',NULL,6918,NULL,'Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Metabolizes the cysteine conjugates of certain halogenated alkenes and alkanes to form reactive metabolites. Catalyzes the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond.',NULL,NULL,NULL,NULL,NULL),(5671,'UniProt Function',NULL,6919,NULL,'Protein lysine acyltransferase that can act both as a acetyltransferase and succinyltransferase, depending on the context (PubMed:29211711). Acts as a histone lysine succinyltransferase: catalyzes succinylation of histone H3 on \'Lys-79\' (H3K79succ), with a maximum frequency around the transcription start sites of genes (PubMed:29211711). Succinylation of histones gives a specific tag for epigenetic transcription activation (PubMed:29211711). Association with the 2-oxoglutarate dehydrogenase complex, which provides succinyl-CoA, is required for histone succinylation (PubMed:29211711). In different complexes, functions either as an acetyltransferase (HAT) or as a succinyltransferase: in the SAGA and ATAC complexes, acts as a histone acetyltransferase (PubMed:17301242, PubMed:19103755, PubMed:29211711). Has significant histone acetyltransferase activity with core histones, but not with nucleosome core particles (PubMed:17301242, PubMed:19103755). Acetylation of histones gives a specific tag for epigenetic transcription activation (PubMed:17301242, PubMed:19103755, PubMed:29211711). Involved in long-term memory consolidation and synaptic plasticity: acts by promoting expression of a hippocampal gene expression network linked to neuroactive receptor signaling (By similarity). Acts as a positive regulator of T-cell activation: upon TCR stimulation, recruited to the IL2 promoter following interaction with NFATC2 and catalyzes acetylation of histone H3 at Lys-9 (H3K9ac), leading to promote IL2 expression (By similarity). Also acetylates non-histone proteins, such as CEBPB, PLK4 and TBX5 (PubMed:17301242, PubMed:29174768, PubMed:27796307). Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4 (PubMed:27796307).',NULL,NULL,NULL,NULL,NULL),(5672,'UniProt Function',NULL,6919,NULL,'(Microbial infection) In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat\'s transactivating activity and may help inducing chromatin remodeling of proviral genes.',NULL,NULL,NULL,NULL,NULL),(5673,'UniProt Function',NULL,6921,NULL,'Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.',NULL,NULL,NULL,NULL,NULL),(5674,'UniProt Function',NULL,6922,NULL,'Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Involved in H3K14 (histone H3 lysine 14) acetylation and cell proliferation (By similarity). Through chromatin acetylation it may regulate DNA replication and act as a coactivator of TP53-dependent transcription. Acts as a coactivator of the licensing factor CDT1 (PubMed:18832067). Specifically represses AR-mediated transcription.',NULL,NULL,NULL,NULL,NULL),(5675,'UniProt Function',NULL,6923,NULL,'Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility. Severs microtubules in an ATP-dependent manner, promoting rapid reorganization of cellular microtubule arrays (By similarity). Has microtubule-severing activity in vitro (PubMed:26929214).',NULL,NULL,NULL,NULL,NULL),(5676,'UniProt Function',NULL,6924,NULL,'Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays.',NULL,NULL,NULL,NULL,NULL),(5677,'UniProt Function',NULL,6925,NULL,'Involved in the proliferation of osteoblasts during bone formation and bone regeneration. Promotes matrix assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(5678,'UniProt Function',NULL,6926,NULL,'Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known.',NULL,NULL,NULL,NULL,NULL),(5679,'UniProt Function',NULL,6928,NULL,'Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development.',NULL,NULL,NULL,NULL,NULL),(5680,'UniProt Function',NULL,6929,NULL,'Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and nuclear localization of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB (By similarity).',NULL,NULL,NULL,NULL,NULL),(5681,'UniProt Function',NULL,6933,NULL,'Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1, SRC, GRB2, STAT3 or the adapter GAB1. Recruitment of these downstream effectors by MET leads to the activation of several signaling cascades including the RAS-ERK, PI3 kinase-AKT, or PLCgamma-PKC. The RAS-ERK activation is associated with the morphogenetic effects while PI3K/AKT coordinates prosurvival effects. During embryonic development, MET signaling plays a role in gastrulation, development and migration of muscles and neuronal precursors, angiogenesis and kidney formation. In adults, participates in wound healing as well as organ regeneration and tissue remodeling. Promotes also differentiation and proliferation of hematopoietic cells. May regulate cortical bone osteogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5682,'UniProt Function',NULL,6933,NULL,'Acts as a receptor for Listeria internalin inlB, mediating entry of the pathogen into cells.',NULL,NULL,NULL,NULL,NULL),(5683,'UniProt Function',NULL,6934,NULL,'RNA binding protein, may be involved in post-transcriptional regulatory mechanisms.',NULL,NULL,NULL,NULL,NULL),(5684,'UniProt Function',NULL,6935,NULL,'RNA-binding protein. May be involved in post-transcriptional regulatory mechanisms.',NULL,NULL,NULL,NULL,NULL),(5685,'UniProt Function',NULL,6936,NULL,'E3 ubiquitin ligase responsible for the post-transcriptional regulation of common HLA-A allotypes. Binds to the 3\' UTR of HLA-A2 mRNA, and regulates its levels by promoting mRNA decay. RNA binding is sufficient to prevent translation, but ubiquitin ligase activity is required for mRNA degradation.',NULL,NULL,NULL,NULL,NULL),(5686,'UniProt Function',NULL,6937,NULL,'Essential serine/threonine-protein kinase that regulates diverse cellular growth and survival processes including Wnt signaling, DNA repair and circadian rhythms. It can phosphorylate a large number of proteins. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Phosphorylates connexin-43/GJA1, MAP1A, SNAPIN, MAPT/TAU, TOP2A, DCK, HIF1A, EIF6, p53/TP53, DVL2, DVL3, ESR1, AIB1/NCOA3, DNMT1, PKD2, YAP1, PER1 and PER2. Central component of the circadian clock. In balance with PP1, determines the circadian period length through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. Controls PER1 and PER2 nuclear transport and degradation. YAP1 phosphorylation promotes its SCF(beta-TRCP) E3 ubiquitin ligase-mediated ubiquitination and subsequent degradation. DNMT1 phosphorylation reduces its DNA-binding activity. Phosphorylation of ESR1 and AIB1/NCOA3 stimulates their activity and coactivation. Phosphorylation of DVL2 and DVL3 regulates WNT3A signaling pathway that controls neurite outgrowth. EIF6 phosphorylation promotes its nuclear export. Triggers down-regulation of dopamine receptors in the forebrain. Activates DCK in vitro by phosphorylation. TOP2A phosphorylation favors DNA cleavable complex formation. May regulate the formation of the mitotic spindle apparatus in extravillous trophoblast. Modulates connexin-43/GJA1 gap junction assembly by phosphorylation. Probably involved in lymphocyte physiology. Regulates fast synaptic transmission mediated by glutamate.',NULL,NULL,NULL,NULL,NULL),(5687,'UniProt Function',NULL,6940,NULL,'Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates DVL1 and DVL2. Central component of the circadian clock. In balance with PP1, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. Controls PER1 and PER2 nuclear transport and degradation. Inhibits cytokine-induced granuloytic differentiation.',NULL,NULL,NULL,NULL,NULL),(5688,'UniProt Function',NULL,6941,NULL,'Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed:7649300, PubMed:11825900). Contributes to the regulation of nerve signaling, and prevents neuronal hyperexcitability (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Promotes potassium channel closure via a mechanism that does not involve physical obstruction of the channel pore (PubMed:7649300, PubMed:11825900). Promotes KCNA4 channel closure (PubMed:7649300, PubMed:11825900). Modulates the functional properties of KCNA5 (By similarity). Enhances KCNB2 channel activity (By similarity). Binds NADPH and has NADPH-dependent aldoketoreductase activity (By similarity). Has broad substrate specificity and can catalyze the reduction of methylglyoxal, 9,10-phenanthrenequinone, prostaglandin J2, 4-nitrobenzaldehyde, 4-nitroacetophenone and 4-oxo-trans-2-nonenal (in vitro) (By similarity).',NULL,NULL,NULL,NULL,NULL),(5689,'UniProt Function',NULL,6942,NULL,'Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates COL4A3BP/CERT, MTA1 and SMAD3. Involved in brain development and vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Regulates fast synaptic transmission mediated by glutamate. SMAD3 phosphorylation promotes its ligand-dependent ubiquitination and subsequent proteasome degradation, thus inhibiting SMAD3-mediated TGF-beta responses. Hyperphosphorylation of the serine-repeat motif of COL4A3BP/CERT leads to its inactivation by dissociation from the Golgi complex, thus down-regulating ER-to-Golgi transport of ceramide and sphingomyelin synthesis. Triggers PER1 proteasomal degradation probably through phosphorylation.',NULL,NULL,NULL,NULL,NULL),(5690,'UniProt Function',NULL,6943,NULL,'Involved in pre-mRNA splicing as a component of the spliceosome.',NULL,NULL,NULL,NULL,NULL),(5691,'UniProt Function',NULL,6944,NULL,'Component of the elastin-associated microfibrils.',NULL,NULL,NULL,NULL,NULL),(5692,'UniProt Function',NULL,6945,NULL,'Component of the elastin-associated microfibrils.',NULL,NULL,NULL,NULL,NULL),(5693,'UniProt Function',NULL,6946,NULL,'Could be involved in calcium-dependent cell adhesion or intercellular interactions. May contribute to the elastic fiber assembly and/or maintenance (PubMed:26601954).',NULL,NULL,NULL,NULL,NULL),(5694,'UniProt Function',NULL,6947,NULL,'Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates CREB1 and SYN1/synapsin I. Phosphorylates and activates CAMK1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(5695,'UniProt Function',NULL,6948,NULL,'May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils (PubMed:8557636).',NULL,NULL,NULL,NULL,NULL),(5696,'UniProt Function',NULL,6949,NULL,'Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, activates CREB-dependent gene transcription, regulates calcium-mediated granulocyte function and respiratory burst and promotes basal dendritic growth of hippocampal neurons. In neutrophil cells, required for cytokine-induced proliferative responses and activation of the respiratory burst. Activates the transcription factor CREB1 in hippocampal neuron nuclei. May play a role in apoptosis of erythroleukemia cells. In vitro, phosphorylates transcription factor CREM isoform Beta.',NULL,NULL,NULL,NULL,NULL),(5697,'UniProt Function',NULL,6951,NULL,'Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates transcription factor CREB1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(5698,'UniProt Function',NULL,6952,NULL,'Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(5699,'UniProt Function',NULL,6953,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(5700,'UniProt Function',NULL,6954,NULL,'May play a key role in diverse functions ascribed to CD81 and CD9 such as oocytes fertilization or hepatitis C virus function. May regulate proliferation and differentiation of keratinocytes. May be a negative regulator of cell motility: suppresses T-cell mobility coordinately with CD81, associates with CD82 to suppress prostate cancer cell migration, regulates epidermoid cell reaggregation and motility on laminin-5 with CD9 and CD81 as key linkers. May also play a role on integrin-dependent morphology and motility functions. May participate in the regulation of neurite outgrowth and maintenance of the neural network in the adult brain.',NULL,NULL,NULL,NULL,NULL),(5701,'UniProt Function',NULL,6955,NULL,'Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). IgD is the major antigen receptor isotype on the surface of most peripheral B cells, where it is coexpressed with IgM. The membrane-bound IgD (mIgD) induces the phosphorylation of CD79A and CD79B by the Src family of protein tyrosine kinases. Soluble IgD (sIgD) concentration in serum is below those of IgG, IgA, and IgM but much higher than that of IgE. IgM and IgD molecules present on B cells have identical V regions and antigen-binding sites. After the antigen binds to the B cell receptor, the secreted form sIgD is shut off. IgD is a potent inducer of TNF, IL1B, and IL1RN. IgD also induces release of IL6, IL10, and LIF from peripheral blood mononuclear cells. Monocytes seem to be the main producers of cytokines in vitro in the presence of IgD (PubMed:8774350, PubMed:11282392, PubMed:10702483, PubMed:16895553).',NULL,NULL,NULL,NULL,NULL),(5702,'UniProt Function',NULL,6956,NULL,'Receptor tyrosine kinase which mediates actions of insulin-like growth factor 1 (IGF1). Binds IGF1 with high affinity and IGF2 and insulin (INS) with a lower affinity. The activated IGF1R is involved in cell growth and survival control. IGF1R is crucial for tumor transformation and survival of malignant cell. Ligand binding activates the receptor kinase, leading to receptor autophosphorylation, and tyrosines phosphorylation of multiple substrates, that function as signaling adapter proteins including, the insulin-receptor substrates (IRS1/2), Shc and 14-3-3 proteins. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway and the Ras-MAPK pathway. The result of activating the MAPK pathway is increased cellular proliferation, whereas activating the PI3K pathway inhibits apoptosis and stimulates protein synthesis. Phosphorylated IRS1 can activate the 85 kDa regulatory subunit of PI3K (PIK3R1), leading to activation of several downstream substrates, including protein AKT/PKB. AKT phosphorylation, in turn, enhances protein synthesis through mTOR activation and triggers the antiapoptotic effects of IGFIR through phosphorylation and inactivation of BAD. In parallel to PI3K-driven signaling, recruitment of Grb2/SOS by phosphorylated IRS1 or Shc leads to recruitment of Ras and activation of the ras-MAPK pathway. In addition to these two main signaling pathways IGF1R signals also through the Janus kinase/signal transducer and activator of transcription pathway (JAK/STAT). Phosphorylation of JAK proteins can lead to phosphorylation/activation of signal transducers and activators of transcription (STAT) proteins. In particular activation of STAT3, may be essential for the transforming activity of IGF1R. The JAK/STAT pathway activates gene transcription and may be responsible for the transforming activity. JNK kinases can also be activated by the IGF1R. IGF1 exerts inhibiting activities on JNK activation via phosphorylation and inhibition of MAP3K5/ASK1, which is able to directly associate with the IGF1R.',NULL,NULL,NULL,NULL,NULL),(5703,'UniProt Function',NULL,6956,NULL,'When present in a hybrid receptor with INSR, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin.',NULL,NULL,NULL,NULL,NULL),(5704,'UniProt Function',NULL,6957,NULL,'Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with MEI4 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis. Not required for HORMAD1 functions in pairing-independent synaptonemal complex formation, ATR recruitment to unsynapsed axes, meiotic silencing of unsynapsed chromatin (MSUC) or meiotic surveillance.',NULL,NULL,NULL,NULL,NULL),(5705,'UniProt Function',NULL,6958,NULL,'Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs) (By similarity). Function is isoform-specific and is modulated by dominant-negative inactive isoforms (PubMed:17135265, PubMed:17934067).',NULL,NULL,NULL,NULL,NULL),(5706,'UniProt Function',NULL,6959,NULL,'Involved in regulation of NF-kappa-B transcription factor complexes. Inhibits NF-kappa-B activity without affecting its nuclear translocation upon stimulation. Inhibits DNA-binding of RELA and NFKB1/p50, and of the NF-kappa-B p65-p50 heterodimer and the NF-kappa-B p50-p50 homodimer. Seems also to activate NF-kappa-B-mediated transcription. In vitro, upon association with NFKB1/p50 has transcriptional activation activity and, together with NFKB1/p50 and RELA, is recruited to LCN2 promoters. Promotes transcription of LCN2 and DEFB4. Is recruited to IL-6 promoters and activates IL-6 but decreases TNF-alpha production in response to LPS. Seems to be involved in the induction of inflammatory genes activated through TLR/IL-1 receptor signaling. May promote apoptosis (By similarity). Involved in the induction of T helper 17 cells (Th17) differentiation upon recognition of antigen by T cell antigen receptor (TCR) (By similarity).',NULL,NULL,NULL,NULL,NULL),(5707,'UniProt Function',NULL,6960,NULL,'Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC.',NULL,NULL,NULL,NULL,NULL),(5708,'UniProt Function',NULL,6961,NULL,'Common subunit for the receptors for a variety of interleukins.',NULL,NULL,NULL,NULL,NULL),(5709,'UniProt Function',NULL,6962,NULL,'Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cell proliferation. In cultured keratinocytes induces the expression of macrophage, T-cell, and neutrophil chemokines, such as CCL3, CCL4, CCL5, CCL2, CCL17, CCL22, CL20, CCL5, CCL2, CCL17, CCL22, CXCL8, CCL20 and CXCL1, and the production of proinflammatory cytokines such as TNF-alpha, IL-8 and IL-6. In cultured monocytes upregulates expression of IL-1A, IL-1B and IL-6. In myeloid dendritic cells involved in cell maturation by upregulating surface expression of CD83, CD86 and HLA-DR. In monocyte-derived dendritic cells facilitates dendritic cell maturation and drives T-cell proliferation. May play a role in proinflammatory effects in the lung.',NULL,NULL,NULL,NULL,NULL),(5710,'UniProt Function',NULL,6963,NULL,'Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Stimulates production of interleukin-6 and interleukin-8 in synovial fibrobasts, articular chondrocytes and mature adipocytes. Induces expression of a number of antimicrobial peptides including beta-defensins 4 and 103 as well as a number of matrix metalloproteases. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cell proliferation. In cultured keratinocytes induces the expression of macrophage, T-cell, and neutrophil chemokines, such as CCL3, CCL4, CCL5, CCL2, CCL17, CCL22, CL20, CCL5, CCL2, CCL17, CCL22, CXCL8, CCL20 and CXCL1, and the production of proinflammatory cytokines such as TNF-alpha, IL-8 and IL-6.',NULL,NULL,NULL,NULL,NULL),(5711,'UniProt Function',NULL,6965,NULL,'Serine protease inhibitor selective for kallikreins. Efficiently inhibits KLK4, KLK5, KLK6, KLK7, KLK12, KLK13 and KLK14. Doesn\'t inhibit KLK8.',NULL,NULL,NULL,NULL,NULL),(5712,'UniProt Function',NULL,6967,NULL,'Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, self-renewal of stem cells, apoptosis and splicing regulation. Has a broad substrate specificity; phosphorylates BCL2L14, CDC25B, MAP3K5/ASK1 and ZNF622. Acts as an activator of apoptosis by phosphorylating and activating MAP3K5/ASK1. Acts as a regulator of cell cycle, notably by mediating phosphorylation of CDC25B, promoting localization of CDC25B to the centrosome and the spindle poles during mitosis. Plays a key role in cell proliferation and carcinogenesis. Required for proliferation of embryonic and postnatal multipotent neural progenitors. Phosphorylates and inhibits BCL2L14, possibly leading to affect mammary carcinogenesis by mediating inhibition of the pro-apoptotic function of BCL2L14. Also involved in the inhibition of spliceosome assembly during mitosis by phosphorylating ZNF622, thereby contributing to its redirection to the nucleus. May also play a role in primitive hematopoiesis.',NULL,NULL,NULL,NULL,NULL),(5713,'UniProt Function',NULL,6968,NULL,'Interacts with TGF-beta receptor type-1 (TGFBR1) and inhibits dissociation of activated SMAD2 from TGFBR1, impeding its nuclear accumulation and resulting in impaired TGF-beta signaling. May also affect FOXO, Hippo and Wnt signaling.',NULL,NULL,NULL,NULL,NULL),(5714,'UniProt Function',NULL,6969,NULL,'Acts as an angiogenesis inhibitor.',NULL,NULL,NULL,NULL,NULL),(5715,'UniProt Function',NULL,6970,NULL,'Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrins ITGAM/ITGB2 and ITGAX/ITGB2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin ITGAX/ITGB2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin ITGAM/ITGB2 recognizes P1 and P2 peptides of fibrinogen gamma chain. Integrin ITGAM/ITGB2 is also a receptor for factor X. Integrin ITGAD/ITGB2 is a receptor for ICAM3 and VCAM1. Contributes to natural killer cell cytotoxicity (PubMed:15356110). Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutrophils (PubMed:11812992, PubMed:28807980). Triggers neutrophil transmigration during lung injury through PTK2B/PYK2-mediated activation (PubMed:18587400). Integrin ITGAL/ITGB2 in association with ICAM3, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590). In association with alpha subunit ITGAM/CD11b, required for CD177-PRTN3-mediated activation of TNF primed neutrophils (PubMed:21193407).',NULL,NULL,NULL,NULL,NULL),(5716,'UniProt Function',NULL,6971,NULL,'Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial surface. Fibrinogen binding enhances SELP expression in activated platelets (By similarity). ITGAV:ITGB3 binds to fractalkine (CX3CL1) and acts as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415, PubMed:24789099). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887).',NULL,NULL,NULL,NULL,NULL),(5717,'UniProt Function',NULL,6971,NULL,'(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8.',NULL,NULL,NULL,NULL,NULL),(5718,'UniProt Function',NULL,6971,NULL,'(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Coxsackievirus A9.',NULL,NULL,NULL,NULL,NULL),(5719,'UniProt Function',NULL,6971,NULL,'(Microbial infection) Acts as a receptor for Hantaan virus.',NULL,NULL,NULL,NULL,NULL),(5720,'UniProt Function',NULL,6971,NULL,'(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Cytomegalovirus/HHV-5.',NULL,NULL,NULL,NULL,NULL),(5721,'UniProt Function',NULL,6971,NULL,'(Microbial infection) Integrin ITGA5:ITGB3 acts as a receptor for Human metapneumovirus.',NULL,NULL,NULL,NULL,NULL),(5722,'UniProt Function',NULL,6971,NULL,'(Microbial infection) Integrin ITGAV:ITGB3 acts aP05556s a receptor for Human parechovirus 1.',NULL,NULL,NULL,NULL,NULL),(5723,'UniProt Function',NULL,6971,NULL,'(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus.',NULL,NULL,NULL,NULL,NULL),(5724,'UniProt Function',NULL,6971,NULL,'(Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi\'s sarcoma lesions.',NULL,NULL,NULL,NULL,NULL),(5725,'UniProt Function',NULL,6972,NULL,'Type II acute-phase protein (APP) involved in inflammatory responses to trauma. May also play a role in liver development or regeneration.',NULL,NULL,NULL,NULL,NULL),(5726,'UniProt Function',NULL,6973,NULL,'May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(5727,'UniProt Function',NULL,6974,NULL,'Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of ITK to the cell membrane, in the vicinity of the stimulated TCR receptor, where it is phosphorylated by LCK. Phosphorylation leads to ITK autophosphorylation and full activation. Once activated, phosphorylates PLCG1, leading to the activation of this lipase and subsequent cleavage of its substrates. In turn, the endoplasmic reticulum releases calcium in the cytoplasm and the nuclear activator of activated T-cells (NFAT) translocates into the nucleus to perform its transcriptional duty. Phosphorylates 2 essential adapter proteins: the linker for activation of T-cells/LAT protein and LCP2. Then, a large number of signaling molecules such as VAV1 are recruited and ultimately lead to lymphokine production, T-cell proliferation and differentiation (PubMed:12186560, PubMed:12682224, PubMed:21725281). Phosphorylates TBX21 at \'Tyr-530\' and mediates its interaction with GATA3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(5728,'UniProt Function',NULL,6975,NULL,'Integrin alpha-4/beta-7 (Peyer patches-specific homing receptor LPAM-1) is an adhesion molecule that mediates lymphocyte migration and homing to gut-associated lymphoid tissue (GALT). Integrin alpha-4/beta-7 interacts with the cell surface adhesion molecules MADCAM1 which is normally expressed by the vascular endothelium of the gastrointestinal tract. Interacts also with VCAM1 and fibronectin, an extracellular matrix component. It recognizes one or more domains within the alternatively spliced CS-1 region of fibronectin. Interactions involves the tripeptide L-D-T in MADCAM1, and L-D-V in fibronectin. Binds to HIV-1 gp120, thereby allowing the virus to enter GALT, which is thought to be the major trigger of AIDS disease. Interaction would involve a tripeptide L-D-I in HIV-1 gp120. Integrin alpha-E/beta-7 (HML-1) is a receptor for E-cadherin.',NULL,NULL,NULL,NULL,NULL),(5729,'UniProt Function',NULL,6976,NULL,'Lectin that specifically recognizes microbial carbohydrate chains in a calcium-dependent manner (PubMed:11313366, PubMed:26148048). Binds to microbial glycans that contain a terminal acyclic 1,2-diol moiety, including beta-linked D-galactofuranose (beta-Galf), D-phosphoglycerol-modified glycans, D-glycero-D-talo-oct-2-ulosonic acid (KO) and 3-deoxy-D-manno-oct-2-ulosonic acid (KDO) (PubMed:26148048). Binds to glycans from Gram-positive and Gram-negative bacteria, including K.pneumoniae, S.pneumoniae, Y.pestis, P.mirabilis and P.vulgaris (PubMed:26148048). Does not bind human glycans (PubMed:26148048). Probably plays a role in the defense system against microorganisms (Probable). May function as adipokine that has no effect on basal glucose uptake but enhances insulin-stimulated glucose uptake in adipocytes (PubMed:16531507). Increases AKT phosphorylation in the absence and presence of insulin (PubMed:16531507). May interact with lactoferrin/LTF and increase its uptake, and may thereby play a role in iron absorption (PubMed:11747454, PubMed:23921499).',NULL,NULL,NULL,NULL,NULL),(5730,'UniProt Function',NULL,6978,NULL,'Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites.',NULL,NULL,NULL,NULL,NULL),(5731,'UniProt Function',NULL,6978,NULL,'Mature BRI2 (mBRI2) functions as a modulator of the amyloid-beta A4 precursor protein (APP) processing leading to a strong reduction in the secretion of secretase-processed amyloid-beta protein 40 and amyloid-beta protein 42.',NULL,NULL,NULL,NULL,NULL),(5732,'UniProt Function',NULL,6978,NULL,'Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers.',NULL,NULL,NULL,NULL,NULL),(5733,'UniProt Function',NULL,6979,NULL,'May play a role during maturation and/or organization of muscles cells.',NULL,NULL,NULL,NULL,NULL),(5734,'UniProt Function',NULL,6981,NULL,'Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3. Phosphorylates Ins(3,4,5,6)P4 at position 1 to form Ins(1,3,4,5,6)P5. This reaction is thought to have regulatory importance, since Ins(3,4,5,6)P4 is an inhibitor of plasma membrane Ca(2+)-activated Cl(-) channels, while Ins(1,3,4,5,6)P5 is not. Also phosphorylates Ins(1,3,4)P3 on O-5 and O-6 to form Ins(1,3,4,6)P4, an essential molecule in the hexakisphosphate (InsP6) pathway. Also acts as an inositol polyphosphate phosphatase that dephosphorylate Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 to Ins(1,3,4)P3, and Ins(1,3,4,5,6)P5 to Ins(3,4,5,6)P4. May also act as an isomerase that interconverts the inositol tetrakisphosphate isomers Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 in the presence of ADP and magnesium. Probably acts as the rate-limiting enzyme of the InsP6 pathway. Modifies TNF-alpha-induced apoptosis by interfering with the activation of TNFRSF1A-associated death domain (PubMed:11909533, PubMed:12925536, PubMed:17616525). Plays an important role in MLKL-mediated necroptosis. Produces highly phosphorylated inositol phosphates such as inositolhexakisphosphate (InsP6) which bind to MLKL mediating the release of an N-terminal auto-inhibitory region leading to its activation. Essential for activated phospho-MLKL to oligomerize and localize to the cell membrane during necroptosis (PubMed:17616525).',NULL,NULL,NULL,NULL,NULL),(5735,'UniProt Function',NULL,6982,NULL,'Integrin alpha-X/beta-2 is a receptor for fibrinogen. It recognizes the sequence G-P-R in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis.',NULL,NULL,NULL,NULL,NULL),(5736,'UniProt Function',NULL,6984,NULL,'Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR). Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(5737,'UniProt Function',NULL,6985,NULL,'The METTL3-METTL14 heterodimer forms a N6-methyltransferase complex that methylates adenosine residues at the N(6) position of some mRNAs and regulates the circadian clock, differentiation of embryonic stem cells and cortical neurogenesis (PubMed:24316715, PubMed:24407421, PubMed:25719671, PubMed:29348140, PubMed:27373337, PubMed:27281194). In the heterodimer formed with METTL3, METTL14 constitutes the RNA-binding scaffold that recognizes the substrate rather than the catalytic core (PubMed:27627798, PubMed:27373337, PubMed:27281194, PubMed:29348140). N6-methyladenosine (m6A), which takes place at the 5\'-[AG]GAC-3\' consensus sites of some mRNAs, plays a role in mRNA stability and processing (PubMed:24316715, PubMed:24407421, PubMed:25719671). M6A acts as a key regulator of mRNA stability by promoting mRNA destabilization and degradation (By similarity). In embryonic stem cells (ESCs), m6A methylation of mRNAs encoding key naive pluripotency-promoting transcripts results in transcript destabilization (By similarity). M6A regulates spermatogonial differentiation and meiosis and is essential for male fertility and spermatogenesis (By similarity). M6A also regulates cortical neurogenesis: m6A methylation of transcripts related to transcription factors, neural stem cells, the cell cycle and neuronal differentiation during brain development promotes their destabilization and decay, promoting differentiation of radial glial cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(5738,'UniProt Function',NULL,6986,NULL,'Probable methyltransferase.',NULL,NULL,NULL,NULL,NULL),(5739,'UniProt Function',NULL,6987,NULL,'Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT) (PubMed:15289438, PubMed:25395621, PubMed:18434651). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways (PubMed:18434651). Acts more efficiently on monoiodotyrosine than on diiodotyrosine (PubMed:15289438).',NULL,NULL,NULL,NULL,NULL),(5740,'UniProt Function',NULL,6988,NULL,'Essential sperm cell-surface protein required for fertilization by acting as a ligand for IZUMO1R/JUNO receptor on egg (PubMed:15759005). The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion (PubMed:15759005). The ligand-receptor interaction probably does not act as a membrane \'fusogen\' (PubMed:15759005).',NULL,NULL,NULL,NULL,NULL),(5741,'UniProt Function',NULL,6989,NULL,'Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Transcriptional coactivator, it may also promote acetylation of nucleosomal histone H4 by KAT5. Promotes apoptosis. May act as a renal tumor suppressor. Negatively regulates canonical Wnt signaling; at least in part, cooperates with NPHP4 in this function.',NULL,NULL,NULL,NULL,NULL),(5742,'UniProt Function',NULL,6990,NULL,'Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo (PubMed:16387653). Acts as a E3 ubiquitin-protein ligase mediating the ubiquitination and subsequent proteasomal degradation of target protein histone demethylase KDM1A (PubMed:25018020). Also acts as a ubiquitin ligase E3 toward itself. Positive regulator of neurogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5743,'UniProt Function',NULL,6991,NULL,'Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro).',NULL,NULL,NULL,NULL,NULL),(5744,'UniProt Function',NULL,6992,NULL,'Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity).',NULL,NULL,NULL,NULL,NULL),(5745,'UniProt Function',NULL,6993,NULL,'Transmembrane protein of the plasma membrane of leukocytes that control their migration and activation through interaction with CXADR, a plasma membrane receptor found on adjacent epithelial and endothelial cells. The interaction between both receptors mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, JAML induces downstream cell signaling events in gamma-delta T-cells through PI3-kinase and MAP kinases. It results in proliferation and production of cytokines and growth factors by T-cells that in turn stimulate epithelial tissues repair. It also controls the transmigration of leukocytes within epithelial and endothelial tissues through adhesive interactions with epithelial and endothelial CXADR.',NULL,NULL,NULL,NULL,NULL),(5746,'UniProt Function',NULL,6994,NULL,'Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role in hematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors sharing the common subunit gamma such as IL2R, IL4R, IL7R, IL9R, IL15R and IL21R. Following ligand binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, upon IL2R activation by IL2, JAK1 and JAK3 molecules bind to IL2R beta (IL2RB) and gamma chain (IL2RG) subunits inducing the tyrosine phosphorylation of both receptor subunits on their cytoplasmic domain. Then, STAT5A AND STAT5B are recruited, phosphorylated and activated by JAK1 and JAK3. Once activated, dimerized STAT5 translocates to the nucleus and promotes the transcription of specific target genes in a cytokine-specific fashion.',NULL,NULL,NULL,NULL,NULL),(5747,'UniProt Function',NULL,6995,NULL,'Seems to play a role in epithelial tight junction formation. Appears early in primordial forms of cell junctions and recruits PARD3 (PubMed:11489913). The association of the PARD6-PARD3 complex may prevent the interaction of PARD3 with JAM1, thereby preventing tight junction assembly (By similarity). Plays a role in regulating monocyte transmigration involved in integrity of epithelial barrier (By similarity). Ligand for integrin alpha-L/beta-2 involved in memory T-cell and neutrophil transmigration (PubMed:11812992). Involved in platelet activation (PubMed:10753840).',NULL,NULL,NULL,NULL,NULL),(5748,'UniProt Function',NULL,6995,NULL,'(Microbial infection) Acts as a receptor for Mammalian reovirus sigma-1.',NULL,NULL,NULL,NULL,NULL),(5749,'UniProt Function',NULL,6995,NULL,'(Microbial infection) Acts as a receptor for Human Rotavirus strain Wa.',NULL,NULL,NULL,NULL,NULL),(5750,'UniProt Function',NULL,6996,NULL,'May play a role in the processes of lymphocyte homing to secondary lymphoid organs.',NULL,NULL,NULL,NULL,NULL),(5751,'UniProt Function',NULL,6998,NULL,'Mediates cell-cell adhesion (PubMed:11590146, PubMed:12208882, PubMed:15194813). Functions as counter-receptor for JAM2 (PubMed:11590146). Functions as a counter-receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN) (PubMed:12208882, PubMed:15194813). Plays a role in angiogenesis (PubMed:23255084). May play a role in the regulation of cell migration (Probable). Required for normal polarization and acrosome formation in developing spermatids, and for normal male fertility (By similarity).',NULL,NULL,NULL,NULL,NULL),(5752,'UniProt Function',NULL,6998,NULL,'Soluble form of JAM-C: Promotes chemotaxis of vascular endothelial cells and stimulates angiogenesis.',NULL,NULL,NULL,NULL,NULL),(5753,'UniProt Function',NULL,6999,NULL,'The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. JIP2 inhibits IL1 beta-induced apoptosis in insulin-secreting cells. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(5754,'UniProt Function',NULL,7000,NULL,'May be a regulator of the duration of MAPK8 activity in response to various stress stimuli. Facilitates degradation of misfolded endoplasmic reticulum (ER) luminal proteins through the recruitment of components of the proteasome and endoplasmic reticulum-associated degradation (ERAD) system (By similarity).',NULL,NULL,NULL,NULL,NULL),(5755,'UniProt Function',NULL,7002,NULL,'Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes.',NULL,NULL,NULL,NULL,NULL),(5756,'UniProt Function',NULL,7003,NULL,'Dioxygenase that can both act as a histone arginine demethylase and a lysyl-hydroxylase. Acts as a lysyl-hydroxylase that catalyzes 5-hydroxylation on specific lysine residues of target proteins such as U2AF2/U2AF65 and LUC7L2. Acts as a regulator of RNA splicing by mediating 5-hydroxylation of U2AF2/U2AF65, affecting the pre-mRNA splicing activity of U2AF2/U2AF65. In addition to peptidyl-lysine 5-dioxygenase activity, may act as an RNA hydroxylase, as suggested by its ability to bind single strand RNA. Also acts as an arginine demethylase which demethylates histone H3 at \'Arg-2\' (H3R2me) and histone H4 at \'Arg-3\' (H4R3me), thereby playing a role in histone code. However, histone arginine demethylation may not constitute the primary activity in vivo. Has no histone lysine demethylase activity. Required for differentiation of multiple organs during embryogenesis. Acts as a key regulator of hematopoietic differentiation: required for angiogenic sprouting by regulating the pre-mRNA splicing activity of U2AF2/U2AF65. Seems to be necessary for the regulation of macrophage cytokine responses.',NULL,NULL,NULL,NULL,NULL),(5757,'UniProt Function',NULL,7004,NULL,'Transcription factor involved in regulating gene activity following the primary growth factor response. Binds to the DNA sequence 5\'-TGA[CG]TCA-3\'.',NULL,NULL,NULL,NULL,NULL),(5758,'UniProt Function',NULL,7005,NULL,'Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells.',NULL,NULL,NULL,NULL,NULL),(5759,'UniProt Function',NULL,7006,NULL,'Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells.',NULL,NULL,NULL,NULL,NULL),(5760,'UniProt Function',NULL,7007,NULL,'Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase.',NULL,NULL,NULL,NULL,NULL),(5761,'UniProt Function',NULL,7008,NULL,'Mediates cAMP-dependent signaling triggered by receptor binding to GPCRs. PKA activation regulates diverse cellular processes such as cell proliferation, the cell cycle, differentiation and regulation of microtubule dynamics, chromatin condensation and decondensation, nuclear envelope disassembly and reassembly, as well as regulation of intracellular transport mechanisms and ion flux. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis (PubMed:12420224, PubMed:21423175). Phosphorylates GPKOW which regulates its ability to bind RNA (PubMed:21880142).',NULL,NULL,NULL,NULL,NULL),(5762,'UniProt Function',NULL,7009,NULL,'Phosphorylates a large number of substrates in the cytoplasm and the nucleus.',NULL,NULL,NULL,NULL,NULL),(5763,'UniProt Function',NULL,7010,NULL,'May be involved in the control of cytoskeleton formation by regulating actin polymerization.',NULL,NULL,NULL,NULL,NULL),(5764,'UniProt Function',NULL,7011,NULL,'Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles. Also acetylates non-histone proteins, such as ACLY, PLK4 and TBX5. Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers. Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4 (PubMed:27796307).',NULL,NULL,NULL,NULL,NULL),(5765,'UniProt Function',NULL,7011,NULL,'(Microbial infection) In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat\'s transactivating activity and may help inducing chromatin remodeling of proviral genes.',NULL,NULL,NULL,NULL,NULL),(5766,'UniProt Function',NULL,7012,NULL,'Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). May catalyze the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond (By similarity). Has transaminase activity towards L-kynurenine, tryptophan, phenylalanine, serine, cysteine, methionine, histidine, glutamine and asparagine with glyoxylate as an amino group acceptor (in vitro). Has lower activity with 2-oxoglutarate as amino group acceptor (in vitro) (By similarity).',NULL,NULL,NULL,NULL,NULL),(5767,'UniProt Function',NULL,7013,NULL,'Probable methyltransferase.',NULL,NULL,NULL,NULL,NULL),(5768,'UniProt Function',NULL,7014,NULL,'Probable methyltransferase.',NULL,NULL,NULL,NULL,NULL),(5769,'UniProt Function',NULL,7015,NULL,'Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and mediating cytoplasmic retention of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB.',NULL,NULL,NULL,NULL,NULL),(5770,'UniProt Function',NULL,7016,NULL,'Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed:7499366, PubMed:7603988, PubMed:17156368,PubMed:17540341, PubMed:19713757). Modulates action potentials via its effect on the pore-forming alpha subunits (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Mediates closure of delayed rectifier potassium channels by physically obstructing the pore via its N-terminal domain and increases the speed of channel closure for other family members (PubMed:9763623). Promotes the closure of KCNA1, KCNA2 and KCNA5 channels (PubMed:7499366, PubMed:7890032, PubMed:7603988, PubMed:7649300, PubMed:8938711, PubMed:12077175, PubMed:12130714, PubMed:15361858, PubMed:17540341, PubMed:19713757). Accelerates KCNA4 channel closure (PubMed:7890032, PubMed:7649300, PubMed:7890764, PubMed:9763623). Accelerates the closure of heteromeric channels formed by KCNA1 and KCNA4 (PubMed:17156368). Accelerates the closure of heteromeric channels formed by KCNA2, KCNA5 and KCNA6 (By similarity). Isoform KvB1.2 has no effect on KCNA1, KCNA2 or KCNB1 (PubMed:7890032, PubMed:7890764). Enhances KCNB1 and KCNB2 channel activity (By similarity). Binds NADPH; this is required for efficient down-regulation of potassium channel activity (PubMed:17540341). Has NADPH-dependent aldoketoreductase activity (By similarity). Oxidation of the bound NADPH strongly decreases N-type inactivation of potassium channel activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(5771,'UniProt Function',NULL,7017,NULL,'Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. Alters the functional properties of Kv1.5.',NULL,NULL,NULL,NULL,NULL),(5772,'UniProt Function',NULL,7018,NULL,'Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity).',NULL,NULL,NULL,NULL,NULL),(5773,'UniProt Function',NULL,7019,NULL,'Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in dendritic spine and synapse formation, neuronal plasticity and regulation of sarcoplasmic reticulum Ca(2+) transport in skeletal muscle. In neurons, plays an essential structural role in the reorganization of the actin cytoskeleton during plasticity by binding and bundling actin filaments in a kinase-independent manner. This structural function is required for correct targeting of CaMK2A, which acts downstream of NMDAR to promote dendritic spine and synapse formation and maintain synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning. In developing hippocampal neurons, promotes arborization of the dendritic tree and in mature neurons, promotes dendritic remodeling. Also regulates the migration of developing neurons (PubMed:29100089). Participates in the modulation of skeletal muscle function in response to exercise. In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of triadin, a ryanodine receptor-coupling factor, and phospholamban (PLN/PLB), an endogenous inhibitor of SERCA2A/ATP2A2.',NULL,NULL,NULL,NULL,NULL),(5774,'UniProt Function',NULL,7020,NULL,'Plays a role in mitochondrial and peroxisomal fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles.',NULL,NULL,NULL,NULL,NULL),(5775,'UniProt Function',NULL,7021,NULL,'Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK4 signaling cascade and regulates, mainly by phosphorylation, the activity of several transcription activators, such as CREB1, MEF2D, JUN and RORA, which play pivotal roles in immune response, inflammation, and memory consolidation. In the thymus, regulates the CD4(+)/CD8(+) double positive thymocytes selection threshold during T-cell ontogeny. In CD4 memory T-cells, is required to link T-cell antigen receptor (TCR) signaling to the production of IL2, IFNG and IL4 (through the regulation of CREB and MEF2). Regulates the differentiation and survival phases of osteoclasts and dendritic cells (DCs). Mediates DCs survival by linking TLR4 and the regulation of temporal expression of BCL2. Phosphorylates the transcription activator CREB1 on \'Ser-133\' in hippocampal neuron nuclei and contribute to memory consolidation and long term potentiation (LTP) in the hippocampus. Can activate the MAP kinases MAPK1/ERK2, MAPK8/JNK1 and MAPK14/p38 and stimulate transcription through the phosphorylation of ELK1 and ATF2. Can also phosphorylate in vitro CREBBP, PRM2, MEF2A and STMN1/OP18.',NULL,NULL,NULL,NULL,NULL),(5776,'UniProt Function',NULL,7022,NULL,'Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ14 gives rise to low-conductance channels with a low affinity to the channel blockers Barium and Cesium (By similarity).',NULL,NULL,NULL,NULL,NULL),(5777,'UniProt Function',NULL,7023,NULL,'Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.',NULL,NULL,NULL,NULL,NULL),(5778,'UniProt Function',NULL,7024,NULL,'Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ16 may be involved in the regulation of fluid and pH balance. In the kidney, together with KCNJ10, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules (PubMed:24561201).',NULL,NULL,NULL,NULL,NULL),(5779,'UniProt Function',NULL,7025,NULL,'Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.',NULL,NULL,NULL,NULL,NULL),(5780,'UniProt Function',NULL,7026,NULL,'Plays an important role in the maintenance of intestinal epithelial homeostasis and the promotion of mucosal healing. Promotes VEGF-dependent neovascularization (By similarity). Contributes to phagocytic removal of apoptotic cells in many tissues. Specific ligand for the alpha-v/beta-3 and alpha-v/beta-5 receptors. Also binds to phosphatidylserine-enriched cell surfaces in a receptor-independent manner. Zona pellucida-binding protein which may play a role in gamete interaction.',NULL,NULL,NULL,NULL,NULL),(5781,'UniProt Function',NULL,7026,NULL,'Medin is the main constituent of aortic medial amyloid.',NULL,NULL,NULL,NULL,NULL),(5782,'UniProt Function',NULL,7027,NULL,'Probable GTP-binding protein (PubMed:24286120). Functions in innate immunity and more specifically the inflammatory response as a regulator of the Toll-like receptor TLR2 and TLR4 signaling pathways (PubMed:26599367, PubMed:28471450, PubMed:28609714). Negatively regulates the part of the TLR4 signaling pathway that leads to the activation of the transcription factor AP-1. By retaining the phosphatase complex PP2A into the cytoplasm, prevents the dephosphorylation of the AP-1 subunit JUN which is required for proper activation of the transcription factor (PubMed:28609714). Both inhibits and activates the TLR2-dependent signaling pathway (PubMed:26599367). Positively regulates the TLR2 signaling pathway to activate specifically the downstream p38 and JNK MAP kinases and promote the polarization of macrophages toward the pro-inflammatory M1 phenotype (PubMed:28471450). It may also play a role in the regulation of inflammation induced by high glucose through the PKB/AKT signaling pathway (PubMed:29168081). Also involved in erythrocyte differentiation through activation of the ERK1/ERK2 signaling pathway (PubMed:23327923).',NULL,NULL,NULL,NULL,NULL),(5783,'UniProt Function',NULL,7028,NULL,'Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient (PubMed:2347305, PubMed:14575698). The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:2347305, PubMed:14575698). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA6, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (By similarity). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (By similarity). Homotetrameric channels display rapid activation and slow inactivation (PubMed:2347305).',NULL,NULL,NULL,NULL,NULL),(5784,'UniProt Function',NULL,7029,NULL,'Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity).',NULL,NULL,NULL,NULL,NULL),(5785,'UniProt Function',NULL,7030,NULL,'Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:12475957, PubMed:12759376, PubMed:27920125, PubMed:28114303). Membrane clustering requires GTPase activity (PubMed:27920125). It may involve a major rearrangement of the coiled coil domains (PubMed:27920125, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:12475957, PubMed:12759376). Overexpression induces the formation of mitochondrial networks (in vitro) (PubMed:12759376). Has low GTPase activity (PubMed:27920125, PubMed:28114303).',NULL,NULL,NULL,NULL,NULL),(5786,'UniProt Function',NULL,7031,NULL,'Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Increases the apparent Ca(2+)/voltage sensitivity of the KCNMA1 channel. It also modifies KCNMA1 channel kinetics and alters its pharmacological properties. It slows down the activation and the deactivation kinetics of the channel. Acts as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1. Its presence is also a requirement for internal binding of the KCNMA1 channel opener dehydrosoyasaponin I (DHS-1) triterpene glycoside and for external binding of the agonist hormone 17-beta-estradiol (E2). Increases the binding activity of charybdotoxin (CTX) toxin to KCNMA1 peptide blocker by increasing the CTX association rate and decreasing the dissociation rate.',NULL,NULL,NULL,NULL,NULL),(5787,'UniProt Function',NULL,7032,NULL,'Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:28114303). Overexpression induces the formation of mitochondrial networks (PubMed:28114303). Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes (By similarity). Plays an important role in the regulation of vascular smooth muscle cell proliferation (By similarity). Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) (PubMed:23620051). Is required for PRKN recruitment to dysfunctional mitochondria (PubMed:23620051). Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress (By similarity). Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions (By similarity).',NULL,NULL,NULL,NULL,NULL),(5788,'UniProt Function',NULL,7033,NULL,'Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Alters the functional properties of the current expressed by the KCNMA1 channel. Isoform 2, isoform 3 and isoform 4 partially inactivate the current of KCNBMA. Isoform 4 induces a fast and incomplete inactivation of KCNMA1 channel that is detectable only at large depolarizations. In contrast, isoform 1 does not induce detectable inactivation of KCNMA1. Two or more subunits of KCNMB3 are required to block the KCNMA1 tetramer.',NULL,NULL,NULL,NULL,NULL),(5789,'UniProt Function',NULL,7034,NULL,'Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient (PubMed:25401298). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons.',NULL,NULL,NULL,NULL,NULL),(5790,'UniProt Function',NULL,7035,NULL,'Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors.',NULL,NULL,NULL,NULL,NULL),(5791,'UniProt Function',NULL,7036,NULL,'Associates with KCNQ3 to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. Therefore, it is important in the regulation of neuronal excitability. May contribute, with other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current. Insensitive to tetraethylammonium, but inhibited by barium, linopirdine and XE991. Activated by niflumic acid and the anticonvulsant retigabine. As the native M-channel, the potassium channel composed of KCNQ3 and KCNQ5 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1.',NULL,NULL,NULL,NULL,NULL),(5792,'UniProt Function',NULL,7037,NULL,'Inhibits potassium fluxes in cells. May regulate Kv1 family channel proteins by retaining a fraction of channels in endomembranes.',NULL,NULL,NULL,NULL,NULL),(5793,'UniProt Function',NULL,7038,NULL,'Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 and KCNB2 (PubMed:10484328).',NULL,NULL,NULL,NULL,NULL),(5794,'UniProt Function',NULL,7040,NULL,'Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity).',NULL,NULL,NULL,NULL,NULL),(5795,'UniProt Function',NULL,7041,NULL,'Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in regulating postsynaptic signal transduction through the syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can enhance EPHA4-induced JAK/STAT activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth. May play a role in neurotrophin- and ephrin-mediated neuronal outgrowth and in axon guidance during neural development and in neuronal regeneration (By similarity). Modulates stress-induced apoptosis of melanoma cells via regulation of the MEK/ERK signaling pathway.',NULL,NULL,NULL,NULL,NULL),(5796,'UniProt Function',NULL,7042,NULL,'Seems to be required for maximal rate of protein biosynthesis. Enhances ribosome dissociation into subunits and stabilizes the binding of the initiator Met-tRNA(I) to 40 S ribosomal subunits.',NULL,NULL,NULL,NULL,NULL),(5797,'UniProt Function',NULL,7043,NULL,'IF-3 binds to the 28S ribosomal subunit and shifts the equilibrum between 55S ribosomes and their 39S and 28S subunits in favor of the free subunits, thus enhancing the availability of 28S subunits on which protein synthesis initiation begins.',NULL,NULL,NULL,NULL,NULL),(5798,'UniProt Function',NULL,7044,NULL,'Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-selective action is because of the epithelial cell-specific expression of its receptor IFNLR1. Exerts an immunomodulatory effect by up-regulating MHC class I antigen expression.',NULL,NULL,NULL,NULL,NULL),(5799,'UniProt Function',NULL,7045,NULL,'Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-selective action is because of the epithelial cell-specific expression of its receptor IFNLR1. Seems not to be essential for early virus-activated host defense in vaginal infection, but plays an important role in Toll-like receptor (TLR)-induced antiviral defense. Plays a significant role in the antiviral immune defense in the intestinal epithelium. Exerts an immunomodulatory effect by up-regulating MHC class I antigen expression.',NULL,NULL,NULL,NULL,NULL),(5800,'UniProt Function',NULL,7046,NULL,'Produced by macrophages, IFN-alpha have antiviral activities.',NULL,NULL,NULL,NULL,NULL),(5801,'UniProt Function',NULL,7047,NULL,'As a component of IFT complex A (IFT-A), it is involved in ciliogenesis (PubMed:28400947, PubMed:28973684). Involved in retrograde ciliary transport along microtubules from the ciliary tip to the base (PubMed:21378380).',NULL,NULL,NULL,NULL,NULL),(5802,'UniProt Function',NULL,7048,NULL,'Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. May play a role in chondrocyte maturation and skeletogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5803,'UniProt Function',NULL,7049,NULL,'Could play a role in regulating gene activity in the proliferative and/or differentiative pathways induced by NGF. May be an autocrine factor that attenuates or amplifies the initial ligand-induced signal (By similarity).',NULL,NULL,NULL,NULL,NULL),(5804,'UniProt Function',NULL,7051,NULL,'Part of intraflagellar transport (IFT) particles involved in ciliary process assembly. May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium (PubMed:16775004). Regulates the platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway. Required for protein stability of E3 ubiquitin ligases CBL and CBLB that mediate ubiquitination and internalization of PDGFRA for proper feedback inhibition of PDGFRA signaling (PubMed:29237719). Essential for male fertility. Plays an important role in spermatogenesis, particularly spermiogenesis, when germ cells form flagella. May play a role in the transport of flagellar proteins ODF2 and SPAG16 to build sperm flagella and in the removal of redundant sperm cytoplasm (By similarity). Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment (By similarity).',NULL,NULL,NULL,NULL,NULL),(5805,'UniProt Function',NULL,7052,NULL,'Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.',NULL,NULL,NULL,NULL,NULL),(5806,'UniProt Function',NULL,7055,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(5807,'UniProt Function',NULL,7056,NULL,'Critical for B-cell development.',NULL,NULL,NULL,NULL,NULL),(5808,'UniProt Function',NULL,7058,NULL,'Potential ligand of the IGFLR1 cell membrane receptor.',NULL,NULL,NULL,NULL,NULL),(5809,'UniProt Function',NULL,7059,NULL,'Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). IgM antibodies play an important role in primary defense mechanisms. They have been shown to be involved in early recognition of external invaders like bacteria and viruses, cellular waste and modified self, as well as in recognition and elimination of precancerous and cancerous lesions. The membrane-bound form is found in the majority of normal B cells alongside with IgD. Membrane-bound IgM induces the phosphorylation of CD79A and CD79B by the Src family of protein tyrosine kinases. It may cause death of cells by apoptosis. It is also found in soluble form, which represents about 30% of the total serum immunoglobulins where it is found almost exclusively as a homopentamer. After the antigen binds to the B cell receptor, the secreted form is secreted in large amounts (PubMed:3137579, PubMed:16895553).',NULL,NULL,NULL,NULL,NULL),(5810,'UniProt Function',NULL,7060,NULL,'Component of the IRAK1-dependent TNFRSF1A signaling pathway that leads to NF-kappa-B activation and is required for cell survival. Acts by enhancing RELA transcriptional activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(5811,'UniProt Function',NULL,7061,NULL,'May play some important roles in inflammatory responses. Up-regulates IL-6 and TNF-alpha and induces apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5812,'UniProt Function',NULL,7062,NULL,'Stimulates the release of tumor necrosis factor alpha and IL-1-beta from the monocytic cell line THP-1.',NULL,NULL,NULL,NULL,NULL),(5813,'UniProt Function',NULL,7063,NULL,'This is a receptor for interleukin-9.',NULL,NULL,NULL,NULL,NULL),(5814,'UniProt Function',NULL,7064,NULL,'Supports IL-2 independent and IL-4 independent growth of helper T-cells.',NULL,NULL,NULL,NULL,NULL),(5815,'UniProt Function',NULL,7066,NULL,'Probable serine protease inhibitor.',NULL,NULL,NULL,NULL,NULL),(5816,'UniProt Function',NULL,7067,NULL,'Serine protease inhibitor which specifically inhibits KLK5. May contribute to the regulation of the desquamation process in skin by inhibiting KLK5.',NULL,NULL,NULL,NULL,NULL),(5817,'UniProt Function',NULL,7068,NULL,'Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.',NULL,NULL,NULL,NULL,NULL),(5818,'UniProt Function',NULL,7069,NULL,'Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitro). Acts as Schwann cell receptor for laminin-2. Acts as a receptor of COMP and mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells.',NULL,NULL,NULL,NULL,NULL),(5819,'UniProt Function',NULL,7070,NULL,'Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including cell survival, migration, differentiation, and phagocytosis of apoptotic cells (efferocytosis). Ligand binding at the cell surface induces autophosphorylation of MERTK on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with GRB2 or PLCG2 and induces phosphorylation of MAPK1, MAPK2, FAK/PTK2 or RAC1. MERTK signaling plays a role in various processes such as macrophage clearance of apoptotic cells, platelet aggregation, cytoskeleton reorganization and engulfment. Functions in the retinal pigment epithelium (RPE) as a regulator of rod outer segments fragments phagocytosis. Plays also an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response by activating STAT1, which selectively induces production of suppressors of cytokine signaling SOCS1 and SOCS3.',NULL,NULL,NULL,NULL,NULL),(5820,'UniProt Function',NULL,7072,NULL,'Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2\'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5\'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions.',NULL,NULL,NULL,NULL,NULL),(5821,'UniProt Function',NULL,7073,NULL,'Acts as guanine nucleotide exchange factor (GEF) specific for the CDC42 GTPase (By similarity). Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR may involve association with DAB2. Isoform 1 could be involved in brain-specific synaptic vesicle recycling. Inhibits ARHGAP31 activity toward RAC1.',NULL,NULL,NULL,NULL,NULL),(5822,'UniProt Function',NULL,7074,NULL,'Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate (PubMed:27108797). Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity).',NULL,NULL,NULL,NULL,NULL),(5823,'UniProt Function',NULL,7075,NULL,'ppGpp hydrolyzing enzyme involved in starvation response.',NULL,NULL,NULL,NULL,NULL),(5824,'UniProt Function',NULL,7076,NULL,'Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity).',NULL,NULL,NULL,NULL,NULL),(5825,'UniProt Function',NULL,7077,NULL,'Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium.',NULL,NULL,NULL,NULL,NULL),(5826,'UniProt Function',NULL,7078,NULL,'May be a component of the mitochondrial small ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(5827,'UniProt Function',NULL,7079,NULL,'May bind DNA.',NULL,NULL,NULL,NULL,NULL),(5828,'UniProt Function',NULL,7080,NULL,'Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B receptor. May play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements.',NULL,NULL,NULL,NULL,NULL),(5829,'UniProt Function',NULL,7083,NULL,'Probable histone demethylase that specifically demethylates \'Lys-9\' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May be involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes (By similarity).',NULL,NULL,NULL,NULL,NULL),(5830,'UniProt Function',NULL,7084,NULL,'The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Isoform 5 may play a role in spermatozoa-egg-interaction.',NULL,NULL,NULL,NULL,NULL),(5831,'UniProt Function',NULL,7085,NULL,'Required for the normal development of cilia in brain ependymal cells lining the ventricular surfaces.',NULL,NULL,NULL,NULL,NULL),(5832,'UniProt Function',NULL,7086,NULL,'Deubiquitinates monoubiquitinated probes (in vitro). When ubiquitinated, cleaves \'Lys-63\'-linked and \'Lys-48\'-linked poly-ubiquitin chains (in vitro), hence may act as a deubiquitinating enzyme. May increase macropinocytosis and suppress clathrin- and caveolae-mediated endocytosis. May enhance membrane dynamics and cell motility independently of its catalytic activity.',NULL,NULL,NULL,NULL,NULL),(5833,'UniProt Function',NULL,7087,NULL,'Cleaves \'Lys-63\'-linked poly-ubiquitin chains, and with lesser efficiency \'Lys-48\'-linked poly-ubiquitin chains (in vitro). May act as a deubiquitinating enzyme.',NULL,NULL,NULL,NULL,NULL),(5834,'UniProt Function',NULL,7088,NULL,'Receptor for IZUMO1 present at the cell surface of oocytes (oolemma), which is essential for species-specific gamete recognition and fertilization. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion. The ligand-receptor interaction probably does not act as a membrane \'fusogen\'. Does not bind folate.',NULL,NULL,NULL,NULL,NULL),(5835,'UniProt Function',NULL,7089,NULL,'Transcription factor that recognizes and binds to the enhancer heptamer motif 5\'-TGA[CG]TCA-3\'. Promotes activity of NR5A1 when phosphorylated by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. Involved in activated KRAS-mediated transcriptional activation of USP28 in colorectal cancer (CRC) cells (PubMed:24623306). Binds to the USP28 promoter in colorectal cancer (CRC) cells (PubMed:24623306).',NULL,NULL,NULL,NULL,NULL),(5836,'UniProt Function',NULL,7090,NULL,'Required for normal cytokinesis during mitosis. Plays a role in the regulation of cell proliferation. May be a component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Increases AURKB activity. Inhibits apoptosis induced by TGFB1 (By similarity). Overexpression induces swelling of mitochondria and reduces mitochondrial membrane potential (By similarity).',NULL,NULL,NULL,NULL,NULL),(5837,'UniProt Function',NULL,7093,NULL,'May be involved in membrane trafficking.',NULL,NULL,NULL,NULL,NULL),(5838,'UniProt Function',NULL,7097,NULL,'May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex.',NULL,NULL,NULL,NULL,NULL),(5839,'UniProt Function',NULL,7103,NULL,'May protect cells from cell death by inducing cytosolic vacuolization and upregulating the autophagy pathway.',NULL,NULL,NULL,NULL,NULL),(5840,'UniProt Function',NULL,7104,NULL,'Competes with SMC1 for binding to SMC3. May affect the availability of SMC3 to engage in the formation of multimeric protein complexes.',NULL,NULL,NULL,NULL,NULL),(5841,'UniProt Function',NULL,7107,NULL,'E3 SUMO-protein ligase; facilitates UBE2I/UBC9-mediated SUMO2 modification of target proteins (PubMed:26524493).',NULL,NULL,NULL,NULL,NULL),(5842,'UniProt Function',NULL,7113,NULL,'Epidermis-specific type I keratin that plays a key role in skin. Acts as a regulator of innate immunity in response to skin barrier breach: required for some inflammatory checkpoint for the skin barrier maintenance.',NULL,NULL,NULL,NULL,NULL),(5843,'UniProt Function',NULL,7114,NULL,'Involved in the organization of myofibers. Together with KRT8, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle.',NULL,NULL,NULL,NULL,NULL),(5844,'UniProt Function',NULL,7115,NULL,'Plays a significant role in maintaining keratin filament organization in intestinal epithelia. When phosphorylated, plays a role in the secretion of mucin in the small intestine (By similarity).',NULL,NULL,NULL,NULL,NULL),(5845,'UniProt Function',NULL,7118,NULL,'Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs) (By similarity). Plays a role in the cytoskeleton organization (PubMed:26902920).',NULL,NULL,NULL,NULL,NULL),(5846,'UniProt Function',NULL,7120,NULL,'Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs).',NULL,NULL,NULL,NULL,NULL),(5847,'UniProt Function',NULL,7121,NULL,'Essential for the proper assembly of types I and II keratin protein complexes and the formation of keratin intermediate filaments in the inner root sheath (irs).',NULL,NULL,NULL,NULL,NULL),(5848,'UniProt Function',NULL,7122,NULL,'May play a role in late hair differentiation.',NULL,NULL,NULL,NULL,NULL),(5849,'UniProt Function',NULL,7123,NULL,'May play a role in late hair differentiation.',NULL,NULL,NULL,NULL,NULL),(5850,'UniProt Function',NULL,7124,NULL,'May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly.',NULL,NULL,NULL,NULL,NULL),(5851,'UniProt Function',NULL,7130,NULL,'Probably contributes to terminal cornification (PubMed:1380918). Associated with keratinocyte activation, proliferation and keratinization (PubMed:12598329). Plays a role in the establishment of the epidermal barrier on plantar skin (By similarity).',NULL,NULL,NULL,NULL,NULL),(5852,'UniProt Function',NULL,7131,NULL,'Probably contributes to terminal cornification.',NULL,NULL,NULL,NULL,NULL),(5853,'UniProt Function',NULL,7133,NULL,'May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK.',NULL,NULL,NULL,NULL,NULL),(5854,'UniProt Function',NULL,7136,NULL,'Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of epithelial migration by inhibiting the activity of SRC during wound repair.',NULL,NULL,NULL,NULL,NULL),(5855,'UniProt Function',NULL,7139,NULL,'Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).',NULL,NULL,NULL,NULL,NULL),(5856,'UniProt Function',NULL,7140,NULL,'Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).',NULL,NULL,NULL,NULL,NULL),(5857,'UniProt Function',NULL,7144,NULL,'Catalyzes the transfer of a methyl group from methyl-cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity).',NULL,NULL,NULL,NULL,NULL),(5858,'UniProt Function',NULL,7146,NULL,'Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has both nucleoside monophosphate and diphosphate kinase activities. Catalyzes the phosphorylation of AMP, dAMP, CMP and dCMP with ATP as phosphate donor and of CMP with GTP as phosphate donor. Also catalyzes the production of ATP, CTP, GTP, UTP, dATP, dCTP, dGTP and TTP from the corresponding diphosphate substrates with either ATP or GTP as phosphate donor. Shows substrate preference of CDP > UDP > ADP > GDP > TDP.',NULL,NULL,NULL,NULL,NULL),(5859,'UniProt Function',NULL,7147,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5860,'UniProt Function',NULL,7148,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5861,'UniProt Function',NULL,7149,NULL,'Transcription factor that can both act as an activator or a repressor depending on the context. Involved in BMP signaling and in the regulation of the immature compartment of the hematopoietic system. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved specification of B-cell lineage; this interaction preventing EBF1 to bind DNA and activate target genes.',NULL,NULL,NULL,NULL,NULL),(5862,'UniProt Function',NULL,7150,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5863,'UniProt Function',NULL,7151,NULL,'Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. May interfere with constitutive 5\'-splice site selection.',NULL,NULL,NULL,NULL,NULL),(5864,'UniProt Function',NULL,7152,NULL,'Acts as a zinc transporter involved in intracellular zinc homeostasis (PubMed:28334855). Functions as a secondary coactivator for nuclear receptors by cooperating with p160 coactivators subtypes. Plays a role in transcriptional activation of Wnt-responsive genes (By similarity).',NULL,NULL,NULL,NULL,NULL),(5865,'UniProt Function',NULL,7153,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5866,'UniProt Function',NULL,7154,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5867,'UniProt Function',NULL,7155,NULL,'May be a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(5868,'UniProt Function',NULL,7156,NULL,'Transcriptional corepressor which does not bind directly to DNA and may regulate transcription through recruitment of histone deacetylases to gene promoters. Regulates cell adhesion, migration and proliferation. May be required for segmental gene expression during hindbrain development.',NULL,NULL,NULL,NULL,NULL),(5869,'UniProt Function',NULL,7157,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5870,'UniProt Function',NULL,7158,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5871,'UniProt Function',NULL,7159,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5872,'UniProt Function',NULL,7160,NULL,'Acts as a signaling molecule that communicates proliferative growth signals from the cytoplasm to the nucleus. Plays a role for the localization and accumulation of the survival motor neuron protein SMN1 in sub-nuclear bodies, including gems and Cajal bodies. Induces neuron differentiation and stimulates axonal growth and formation of growth cone in spinal cord motor neurons. Plays a role in the splicing of cellular pre-mRNAs. May be involved in H(2)O(2)-induced neuronal cell death.',NULL,NULL,NULL,NULL,NULL),(5873,'UniProt Function',NULL,7161,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5874,'UniProt Function',NULL,7162,NULL,'May be involved as a regulatory molecule in GPR24/MCH-R1 signaling.',NULL,NULL,NULL,NULL,NULL),(5875,'UniProt Function',NULL,7163,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5876,'UniProt Function',NULL,7164,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5877,'UniProt Function',NULL,7165,NULL,'Transcriptional regulator which can act as an activator or a repressor. Inhibits the enhancer element of the AFP gene by binding to its AT-rich core sequence. In concert with SMAD-dependent TGF-beta signaling can repress the transcription of AFP via its interaction with SMAD2/3 (PubMed:25105025). Regulates the circadian locomotor rhythms via transcriptional activation of neuropeptidergic genes which are essential for intercellular synchrony and rhythm amplitude in the suprachiasmatic nucleus (SCN) of the brain (By similarity). Regulator of myoblasts differentiation through the binding to the AT-rich sequence of MYF6 promoter and promoter repression (PubMed:11312261). Down-regulates the MUC5AC promoter in gastric cancer (PubMed:17330845). In association with RUNX3, upregulates CDKN1A promoter activity following TGF-beta stimulation (PubMed:20599712). Inhibits estrogen receptor (ESR1) function by selectively competing with coactivator NCOA3 for binding to ESR1 in ESR1-positive breast cancer cells (PubMed:20720010).',NULL,NULL,NULL,NULL,NULL),(5878,'UniProt Function',NULL,7166,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5879,'UniProt Function',NULL,7167,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5880,'UniProt Function',NULL,7168,NULL,'Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Acts as a key regulator of m6A methylation by promoting m6A methylation of mRNAs at the 3\'-UTR (By similarity). Controls embryonic stem cells (ESCs) pluripotency via its role in m6A methylation (By similarity). In the WMM complex, anchors component of the MACOM subcomplex in the nucleus (By similarity). Also required for bridging WTAP to the RNA-binding component RBM15 (RBM15 or RBM15B) (By similarity).',NULL,NULL,NULL,NULL,NULL),(5881,'UniProt Function',NULL,7169,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5882,'UniProt Function',NULL,7170,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5883,'UniProt Function',NULL,7171,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5884,'UniProt Function',NULL,7172,NULL,'May function as a transcription factor. Seem to have a transcriptional repression activity.',NULL,NULL,NULL,NULL,NULL),(5885,'UniProt Function',NULL,7173,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5886,'UniProt Function',NULL,7175,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5887,'UniProt Function',NULL,7176,NULL,'Might play an important role in basic cellular processes as a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(5888,'UniProt Function',NULL,7177,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5889,'UniProt Function',NULL,7178,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5890,'UniProt Function',NULL,7179,NULL,'Transcriptional regulator that plays a role in retinal development and maintenance.',NULL,NULL,NULL,NULL,NULL),(5891,'UniProt Function',NULL,7180,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5892,'UniProt Function',NULL,7181,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5893,'UniProt Function',NULL,7182,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5894,'UniProt Function',NULL,7183,NULL,'TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton (PubMed:7798316, PubMed:9792688). The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Necessary for lumenogenesis, and particularly efficient epithelial polarization and barrier formation (By similarity). Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of migrating cells (PubMed:21240187). Plays an important role in podosome formation and associated function, thus regulating cell adhesion and matrix remodeling (PubMed:20930113). With TJP2 and TJP3, participates to the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus (By similarity).',NULL,NULL,NULL,NULL,NULL),(5895,'UniProt Function',NULL,7184,NULL,'Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression.',NULL,NULL,NULL,NULL,NULL),(5896,'UniProt Function',NULL,7185,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5897,'UniProt Function',NULL,7186,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5898,'UniProt Function',NULL,7187,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5899,'UniProt Function',NULL,7188,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5900,'UniProt Function',NULL,7189,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5901,'UniProt Function',NULL,7190,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5902,'UniProt Function',NULL,7191,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5903,'UniProt Function',NULL,7192,NULL,'Deubiquitinase with endodeubiquitinase activity that specifically interacts with and cleaves \'Lys-63\'-linked long polyubiquitin chains. Shows only weak activity against \'Lys-11\' and \'Lys-48\'-linked chains (PubMed:29576528, PubMed:29563501, PubMed:29476094). Plays an important role in genome stability pathways, functioning to prevent spontaneous DNA damage and also promote cellular survival in response to exogenous DNA damage (PubMed:29576528, PubMed:29576527). Modulates the ubiquitination status of replication protein A (RPA) complex proteins in response to replication stress (PubMed:29563501).',NULL,NULL,NULL,NULL,NULL),(5904,'UniProt Function',NULL,7193,NULL,'Transcription factor specifically required to repress SINE-VNTR-Alu (SVA) retrotransposons: recognizes and binds SVA sequences and represses their expression by recruiting a repressive complex containing TRIM28/KAP1 (PubMed:25274305). May also bind the promoter of the FCGR2B gene, leading to repress its expression; however, additional evidences are required to confirm this result in vivo (PubMed:11470777).',NULL,NULL,NULL,NULL,NULL),(5905,'UniProt Function',NULL,7194,NULL,'Is implicated in sperm-oocyte interaction during fertilization.',NULL,NULL,NULL,NULL,NULL),(5906,'UniProt Function',NULL,7195,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5907,'UniProt Function',NULL,7196,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5908,'UniProt Function',NULL,7197,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5909,'UniProt Function',NULL,7198,NULL,'Probably involved in zinc transport out of the cytoplasm, maybe by sequestration into an intracellular compartment.',NULL,NULL,NULL,NULL,NULL),(5910,'UniProt Function',NULL,7199,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5911,'UniProt Function',NULL,7200,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5912,'UniProt Function',NULL,7201,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5913,'UniProt Function',NULL,7202,NULL,'Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:11590237, PubMed:15485811, PubMed:15824131). Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the interphase NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:15029241).',NULL,NULL,NULL,NULL,NULL),(5914,'UniProt Function',NULL,7203,NULL,'E3 ubiquitin-protein ligase involved in the regulation of Fas-, DR3- and DR4-mediated apoptosis. Functions in conjunction with the UBE2D1, UBE2D3 and UBE2E1 E2 ubiquitin-conjugating enzymes.',NULL,NULL,NULL,NULL,NULL),(5915,'UniProt Function',NULL,7204,NULL,'May function as a transcription factor.',NULL,NULL,NULL,NULL,NULL),(5916,'UniProt Function',NULL,7205,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5917,'UniProt Function',NULL,7206,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5918,'UniProt Function',NULL,7207,NULL,'Plays a role in the regulation of cell morphology and cytoskeletal organization. May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5919,'UniProt Function',NULL,7209,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5920,'UniProt Function',NULL,7210,NULL,'Palmitoyltransferase involved in glutamatergic transmission. Mediates palmitoylation of ABCA1.',NULL,NULL,NULL,NULL,NULL),(5921,'UniProt Function',NULL,7211,NULL,'Catalyzes palmitoylation of Cys residues on target proteins. Catalyzes palmitoylation of GAP43 and DLG4/PSD95.',NULL,NULL,NULL,NULL,NULL),(5922,'UniProt Function',NULL,7212,NULL,'Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters.',NULL,NULL,NULL,NULL,NULL),(5923,'UniProt Function',NULL,7213,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5924,'UniProt Function',NULL,7214,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5925,'UniProt Function',NULL,7215,NULL,'Transcription repressor that specifically binds the 5\'-GGAG[GA]A[GA]A-3\' consensus sequence. Represses transcription by recruiting the chromatin multiprotein complex NuRD to target promoters. Negatively regulates expression of EGFR, a gene involved in cell proliferation, survival and migration. Its ability to repress genes of the EGFR pathway suggest it may act as a tumor suppressor. Able to suppress breast carcinogenesis.',NULL,NULL,NULL,NULL,NULL),(5926,'UniProt Function',NULL,7215,NULL,'Isoform 4: Antagonizes the transcription repression by isoform 1 by competing for the binding of the NuRD complex. Does not bind DNA.',NULL,NULL,NULL,NULL,NULL),(5927,'UniProt Function',NULL,7216,NULL,'May behave as an activator of the bound transcription factor, MYBL2, and be involved in embryonic development.',NULL,NULL,NULL,NULL,NULL),(5928,'UniProt Function',NULL,7217,NULL,'Involved in pre-mRNA splicing as a component of the spliceosome.',NULL,NULL,NULL,NULL,NULL),(5929,'UniProt Function',NULL,7218,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5930,'UniProt Function',NULL,7219,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5931,'UniProt Function',NULL,7220,NULL,'Acts as transcriptional regulator and plays a role in gene silencing (PubMed:24623306, PubMed:26081979). Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of several tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) by inducing trimethylation of \'Lys-27\' of histone H3 (H3K27me3) (PubMed:24623306) in a Polycomb group (PcG) complexes-dependent manner. Associates at promoter regions of TSGs and mediates the recruitment of the corepressor complex containing the scaffolding protein TRIM28, methyltransferase DNMT1 and histone methyltransferase SETDB1 and/or the PcG complexes at those sites (PubMed:24623306). Transcription factor involved in the metastatic cascade process by inducing cell migration and proliferation and gain resistance to anoikis of ovarian carcinoma (OC) cells via integrin-mediated signaling pathways (PubMed:26081979). Associates with the ITGB1 promoter and positively regulates beta-1 integrin transcription expression (PubMed:26081979). Promotes angiogenesis (PubMed:26081979). Promotes tumor growth (PubMed:24623306, PubMed:26081979).',NULL,NULL,NULL,NULL,NULL),(5932,'UniProt Function',NULL,7221,NULL,'Plays a role in the regulation of cell morphology and cytoskeletal organization.',NULL,NULL,NULL,NULL,NULL),(5933,'UniProt Function',NULL,7222,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5934,'UniProt Function',NULL,7223,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5935,'UniProt Function',NULL,7224,NULL,'Sequence-specific DNA binding transcriptional repressor. Represses target gene transcription by recruiting HDAC1 and HDAC2 histone deacetylases. Acts as a specific transcriptional repressor for PTCH1 during embryonic development. Required for osteoblast differentiation and sonic hedgehog/SHH signaling response. Binds to the consensus site 5\'-GCGCCC-3\' in the promoter of PTCH1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(5936,'UniProt Function',NULL,7225,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5937,'UniProt Function',NULL,7226,NULL,'May be a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(5938,'UniProt Function',NULL,7227,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5939,'UniProt Function',NULL,7228,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5940,'UniProt Function',NULL,7229,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5941,'UniProt Function',NULL,7230,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5942,'UniProt Function',NULL,7232,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5943,'UniProt Function',NULL,7233,NULL,'May be involved in transcriptional regulation. Involved in cell differentiation and/or proliferation.',NULL,NULL,NULL,NULL,NULL),(5944,'UniProt Function',NULL,7234,NULL,'May act as a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(5945,'UniProt Function',NULL,7235,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5946,'UniProt Function',NULL,7236,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5947,'UniProt Function',NULL,7237,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5948,'UniProt Function',NULL,7238,NULL,'E3 ubiquitin-protein ligase which specifically induces ubiquitination and proteasomal degradation of CANX within the endoplasmic reticulum (PubMed:21205830). Could have a role in spermatogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(5949,'UniProt Function',NULL,7240,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5950,'UniProt Function',NULL,7242,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5951,'UniProt Function',NULL,7243,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5952,'UniProt Function',NULL,7244,NULL,'Binds DNA through the consensus sequence 5\'-CAATG-3\'. May be involved in transcriptional regulation and may play a role in tooth formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(5953,'UniProt Function',NULL,7245,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5954,'UniProt Function',NULL,7247,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5955,'UniProt Function',NULL,7248,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5956,'UniProt Function',NULL,7249,NULL,'This protein specifically binds to the DNA sequence 5\'-GGGACTTTCC-3\' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV-1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, and interferon-beta genes. It may act in T-cell activation. Involved in activating HIV-1 gene expression. Isoform 2 and isoform 3 also bind to the IPCS (IRF1 and p53 common sequence) DNA sequence in the promoter region of interferon regulatory factor 1 and p53 genes and are involved in transcription regulation of these genes. Isoform 2 does not activate HIV-1 gene expression. Isoform 2 and isoform 3 may be involved in apoptosis.',NULL,NULL,NULL,NULL,NULL),(5957,'UniProt Function',NULL,7250,NULL,'Acts as a transcriptional repressor. Increases DNMT3B-mediated repressive transcriptional activity when DNMT3B is tethered to DNA. May link molecule between DNMT3B and other co-repressor proteins.',NULL,NULL,NULL,NULL,NULL),(5958,'UniProt Function',NULL,7251,NULL,'Palmitoyltransferase that mediates palmitoylation of KCNMA1, regulating localization of KCNMA1 to the plasma membrane. May be involved in NOS1 regulation and targeting to the synaptic membrane.',NULL,NULL,NULL,NULL,NULL),(5959,'UniProt Function',NULL,7252,NULL,'Transcription regulator that acts as a key regulator of lineage commitment of immature T-cell precursors. Exerts distinct biological functions in the mammary epithelial cells and T cells in a tissue-specific manner. Necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. Development of immature T-cell precursors (thymocytes) to either the CD4 helper or CD8 killer T-cell lineages correlates precisely with their T-cell receptor specificity for major histocompatibility complex class II or class I molecules, respectively. Cross-antagonism between ZBTB7B and CBF complexes are determinative to CD4 versus CD8 cell fate decision. Suppresses RUNX3 expression and imposes CD4+ lineage fate by inducing the SOCS suppressors of cytokine signaling. induces, as a transcriptional activator, SOCS genes expression which represses RUNX3 expression and promotes the CD4+ lineage fate. During CD4 lineage commitment, associates with multiple sites at the CD8 locus, acting as a negative regulator of the CD8 promoter and enhancers by epigenetic silencing through the recruitment of class II histone deacetylases, such as HDAC4 and HDAC5, to these loci. Regulates the development of IL17-producing CD1d-restricted naural killer (NK) T cells. Also functions as an important metabolic regulator in the lactating mammary glands. Critical feed-forward regulator of insulin signaling in mammary gland lactation, directly regulates expression of insulin receptor substrate-1 (IRS-1) and insulin-induced Akt-mTOR-SREBP signaling (By similarity). Transcriptional repressor of the collagen COL1A1 and COL1A2 genes. May also function as a repressor of fibronectin and possibly other extracellular matrix genes (PubMed:9370309). Potent driver of brown fat development, thermogenesis and cold-induced beige fat formation. Recruits the brown fat lncRNA 1 (Blnc1):HNRNPU ribonucleoprotein complex to activate thermogenic gene expression in brown and beige adipocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(5960,'UniProt Function',NULL,7253,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5961,'UniProt Function',NULL,7254,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5962,'UniProt Function',NULL,7255,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5963,'UniProt Function',NULL,7256,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5964,'UniProt Function',NULL,7257,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5965,'UniProt Function',NULL,7258,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5966,'UniProt Function',NULL,7259,NULL,'Palmitoyltransferase with broad specificity (PubMed:21926431, PubMed:23034182). Palmitoylates GABA receptors on their gamma subunit (GABRG1, GABRG2 and GABRG3), which regulates synaptic clustering and/or cell surface stability (By similarity). Palmitoylates glutamate receptors GRIA1 and GRIA2, which leads to their retention in Golgi. May also palmitoylate DLG4, DNAJC5 and SNAP25 (By similarity).',NULL,NULL,NULL,NULL,NULL),(5967,'UniProt Function',NULL,7260,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5968,'UniProt Function',NULL,7262,NULL,'Transcriptional activator (PubMed:15555580). Important for maintenance of pluripotency in embryonic stem cells (By similarity). Binds directly to the POU5F1 distal enhancer and the NANOG proximal promoter, and enhances expression of both genes (By similarity). Can also bind to numerous other gene promoters and regulates expression of many other pluripotency factors, either directly or indirectly (By similarity). Promotes inhibition of MAPK signaling during embryonic stem cell differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(5969,'UniProt Function',NULL,7263,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5970,'UniProt Function',NULL,7264,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5971,'UniProt Function',NULL,7265,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5972,'UniProt Function',NULL,7266,NULL,'Transcriptional regulator. Binds to the 5\'-flanking critical region of the SCARF1 promoter.',NULL,NULL,NULL,NULL,NULL),(5973,'UniProt Function',NULL,7267,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5974,'UniProt Function',NULL,7268,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5975,'UniProt Function',NULL,7269,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5976,'UniProt Function',NULL,7270,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5977,'UniProt Function',NULL,7271,NULL,'May act as a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(5978,'UniProt Function',NULL,7272,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5979,'UniProt Function',NULL,7273,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5980,'UniProt Function',NULL,7274,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5981,'UniProt Function',NULL,7275,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5982,'UniProt Function',NULL,7276,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5983,'UniProt Function',NULL,7277,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5984,'UniProt Function',NULL,7278,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5985,'UniProt Function',NULL,7279,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5986,'UniProt Function',NULL,7280,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5987,'UniProt Function',NULL,7281,NULL,'Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes.',NULL,NULL,NULL,NULL,NULL),(5988,'UniProt Function',NULL,7282,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5989,'UniProt Function',NULL,7283,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5990,'UniProt Function',NULL,7284,NULL,'The mammalian zona pellucida, which mediates species-specific sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy, is composed of three to four glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP1 ensures the structural integrity of the zona pellucida.',NULL,NULL,NULL,NULL,NULL),(5991,'UniProt Function',NULL,7285,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5992,'UniProt Function',NULL,7286,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5993,'UniProt Function',NULL,7287,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5994,'UniProt Function',NULL,7288,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5995,'UniProt Function',NULL,7289,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5996,'UniProt Function',NULL,7290,NULL,'Involved in cell differentiation and/or proliferation.',NULL,NULL,NULL,NULL,NULL),(5997,'UniProt Function',NULL,7291,NULL,'E3 SUMO-protein ligase; has a preference for SUMO2 and SUMO3 and facilitates UBE2I/UBC9-mediated sumoylation of target proteins (PubMed:26524493, PubMed:26524494). Plays a role in protein SUMO2 modification in response to stress caused by DNA damage and by proteasome inhibitors (in vitro). Required for MCM4 sumoylation (By similarity). Has no activity with SUMO1 (PubMed:26524493). Preferentially transfers an additional SUMO2 chain onto the SUMO2 consensus site \'Lys-11\' (PubMed:26524493). Negatively regulates transcriptional activation mediated by the SMAD4 complex in response to TGF-beta signaling. Inhibits EP300-mediated acetylation of histone H3 at \'Lys-9\' (PubMed:24324267). Plays a role in regulating the transcription of AR targets (PubMed:18656483).',NULL,NULL,NULL,NULL,NULL),(5998,'UniProt Function',NULL,7292,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(5999,'UniProt Function',NULL,7293,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6000,'UniProt Function',NULL,7294,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6001,'UniProt Function',NULL,7295,NULL,'Plays a role in papillomavirus genes transcription.',NULL,NULL,NULL,NULL,NULL),(6002,'UniProt Function',NULL,7296,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6003,'UniProt Function',NULL,7297,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6004,'UniProt Function',NULL,7298,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6005,'UniProt Function',NULL,7299,NULL,'Plays a role in acrosome compaction and sperm morphogenesis (PubMed:21911476). Is implicated in sperm-oocyte interaction during fertilization (By similarity).',NULL,NULL,NULL,NULL,NULL),(6006,'UniProt Function',NULL,7300,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6007,'UniProt Function',NULL,7301,NULL,'Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions. May play a role in neuronal differentiation and is able to bind DNA and activate expression in vitro.',NULL,NULL,NULL,NULL,NULL),(6008,'UniProt Function',NULL,7302,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6009,'UniProt Function',NULL,7303,NULL,'Functions as a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(6010,'UniProt Function',NULL,7304,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6011,'UniProt Function',NULL,7305,NULL,'May be involved in transcriptional regulation. May play a role during osteoclast differentiation by modulating TRAF6 signaling activity.',NULL,NULL,NULL,NULL,NULL),(6012,'UniProt Function',NULL,7306,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6013,'UniProt Function',NULL,7308,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6014,'UniProt Function',NULL,7309,NULL,'E3 ubiquitin-protein ligase that plays a key role in the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation (PubMed:28065601, PubMed:28132843). Required for ribosomes to terminally stall during translation of poly(A) sequences by mediating monoubiquitination of 40S ribosomal protein RPS10/eS10, RPS20/uS10 and RPS3/uS3 (PubMed:28065601, PubMed:28132843). Stalling precludes synthesis of a long poly-lysine tail and initiates the RQC pathway to degrade the potentially detrimental aberrant nascent polypeptide (PubMed:28065601, PubMed:28132843). Also acts as a component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931).',NULL,NULL,NULL,NULL,NULL),(6015,'UniProt Function',NULL,7310,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6016,'UniProt Function',NULL,7311,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6017,'UniProt Function',NULL,7312,NULL,'Functions as a transcriptional regulator.',NULL,NULL,NULL,NULL,NULL),(6018,'UniProt Function',NULL,7313,NULL,'Plays a role in the regulation of cell morphology and cytoskeletal organization.',NULL,NULL,NULL,NULL,NULL),(6019,'UniProt Function',NULL,7314,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6020,'UniProt Function',NULL,7315,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6021,'UniProt Function',NULL,7316,NULL,'Part of the MIS12 complex, which is required for kinetochore formation and spindle checkpoint activity. Required to target ZW10 to the kinetochore at prometaphase.',NULL,NULL,NULL,NULL,NULL),(6022,'UniProt Function',NULL,7317,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6023,'UniProt Function',NULL,7318,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6024,'UniProt Function',NULL,7321,NULL,'Transcription factor that activates transcription of matrix-remodeling genes such as MMP1 during fibroblast senescence.',NULL,NULL,NULL,NULL,NULL),(6025,'UniProt Function',NULL,7322,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6026,'UniProt Function',NULL,7323,NULL,'May function as a transcription factor. May be involved in the development of multiple embryonic organs.',NULL,NULL,NULL,NULL,NULL),(6027,'UniProt Function',NULL,7325,NULL,'Involved in poly(A) tail length control in neuronal cells. Binds the polyadenosine RNA oligonucleotides.',NULL,NULL,NULL,NULL,NULL),(6028,'UniProt Function',NULL,7327,NULL,'May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 3\'-ATA(A/T)-5\' motif in the apical loop.',NULL,NULL,NULL,NULL,NULL),(6029,'UniProt Function',NULL,7329,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6030,'UniProt Function',NULL,7330,NULL,'Transcriptional regulator with bimodal DNA-binding specificity. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5\'-CGCG-3\' but can also bind to E-box elements (5\'-CACGTG-3\'). Can also bind specifically to a single methyl-CpG pair. Represses transcription in a methyl-CpG-dependent manner (PubMed:16354688). Plays an important role in regulating DNA replication and common fragile sites (CFS) stability in a RBBP6- and MCM10-dependent manner; represses expression of MCM10 which plays an important role in DNA-replication (PubMed:24726359). Acts as a transcriptional activator. May be involved in the differentiation and/or survival of late postmitotic neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(6031,'UniProt Function',NULL,7331,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6032,'UniProt Function',NULL,7332,NULL,'Has palmitoyltransferase activity towards HRAS and LCK.',NULL,NULL,NULL,NULL,NULL),(6033,'UniProt Function',NULL,7335,NULL,'Acts as a transcriptional repressor (PubMed:24359566). May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312).',NULL,NULL,NULL,NULL,NULL),(6034,'UniProt Function',NULL,7336,NULL,'Essential for neural crest development, converting cells from an epidermal fate to a neural crest cell fate. Binds to DNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(6035,'UniProt Function',NULL,7337,NULL,'Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5\'-[AC]ACATCTG[GT][AC]-3\' which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May also play a role in the organization of chromosomes in the nucleus.',NULL,NULL,NULL,NULL,NULL),(6036,'UniProt Function',NULL,7338,NULL,'May be involved in transcriptional regulation as a repressor.',NULL,NULL,NULL,NULL,NULL),(6037,'UniProt Function',NULL,7339,NULL,'May regulate cell growth likely by suppressing RB1 phosphorylation (PubMed:19531561). May function as RNase and regulate the levels of target RNA species (Potential). In association with ZC3H12A enhances the degradation of interleukin IL-6 mRNA level in activated macrophages (PubMed:26134560). Serve as a tumor suppressor in certain leukemia cells (PubMed:17210687). Overexpression inhibits the G1 to S phase progression through suppression of RB1 phosphorylation (PubMed:19531561).',NULL,NULL,NULL,NULL,NULL),(6038,'UniProt Function',NULL,7340,NULL,'May be a methyltransferase.',NULL,NULL,NULL,NULL,NULL),(6039,'UniProt Function',NULL,7341,NULL,'Transcriptional regulator (PubMed:14621294, PubMed:19549071). Recognizes and binds 2 copies of the core DNA sequence motif 5\'-GGGGG-3\' (PubMed:14621294). Binds to the HMGN1 promoter and may repress HMGN1 expression (PubMed:14621294). Regulates SNCA expression in primary cortical neurons (PubMed:19549071). Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with SOX9 (By similarity). Plays a role in chondrocyte differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6040,'UniProt Function',NULL,7342,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6041,'UniProt Function',NULL,7343,NULL,'The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS.',NULL,NULL,NULL,NULL,NULL),(6042,'UniProt Function',NULL,7344,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6043,'UniProt Function',NULL,7345,NULL,'Acts as a transcriptional repressor through interaction with histone deacetylases (HDACs). May be important for spermiogenesis.',NULL,NULL,NULL,NULL,NULL),(6044,'UniProt Function',NULL,7346,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6045,'UniProt Function',NULL,7347,NULL,'Functions as a sequence-specific transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(6046,'UniProt Function',NULL,7348,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6047,'UniProt Function',NULL,7350,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6048,'UniProt Function',NULL,7351,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6049,'UniProt Function',NULL,7352,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6050,'UniProt Function',NULL,7353,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6051,'UniProt Function',NULL,7354,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6052,'UniProt Function',NULL,7355,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6053,'UniProt Function',NULL,7356,NULL,'Transcription factor, which activates RAG1, and possibly RAG2, transcription. Through the regulation of RAG1/2 expression, may regulate thymocyte maturation. Along with NIPBL and the multiprotein complex Integrator, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others.',NULL,NULL,NULL,NULL,NULL),(6054,'UniProt Function',NULL,7356,NULL,'Isoform 2: Involved in the regulation of myoblast proliferation during myogenesis.',NULL,NULL,NULL,NULL,NULL),(6055,'UniProt Function',NULL,7357,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6056,'UniProt Function',NULL,7358,NULL,'Involved in early stages of the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents.',NULL,NULL,NULL,NULL,NULL),(6057,'UniProt Function',NULL,7359,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6058,'UniProt Function',NULL,7360,NULL,'Transcription factor required for myelination of differentiated oligodendrocytes. Required for the conversion of oligodendrocytes from the premyelinating to the myelinating state. In the developing central nervous system (CNS), involved in the maintenance in the progenitor stage by promoting the cell cycle. Specifically binds to the 5\'-TCAT-3\' DNA sequence (By similarity). Has transcription repressor activity in vitro.',NULL,NULL,NULL,NULL,NULL),(6059,'UniProt Function',NULL,7361,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6060,'UniProt Function',NULL,7363,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6061,'UniProt Function',NULL,7364,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6062,'UniProt Function',NULL,7365,NULL,'Glycoprotein which is a component of the gelatinous extracellular matrix in the cupulae of the vestibular organ.',NULL,NULL,NULL,NULL,NULL),(6063,'UniProt Function',NULL,7366,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6064,'UniProt Function',NULL,7369,NULL,'Essential for female fertility. May play a role in the oocyte-to-embryo transition (By similarity).',NULL,NULL,NULL,NULL,NULL),(6065,'UniProt Function',NULL,7370,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6066,'UniProt Function',NULL,7371,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6067,'UniProt Function',NULL,7372,NULL,'Protects DRG1 from proteolytic degradation.',NULL,NULL,NULL,NULL,NULL),(6068,'UniProt Function',NULL,7373,NULL,'May be a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(6069,'UniProt Function',NULL,7374,NULL,'Acts as transcriptional coactivator. Increases ligand-dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation (PubMed:14609956, PubMed:26522984). Involved in transcriptional activation of a subset of NOTCH1 target genes including MYC. Involved in thymocyte and T cell development (By similarity).',NULL,NULL,NULL,NULL,NULL),(6070,'UniProt Function',NULL,7375,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6071,'UniProt Function',NULL,7376,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6072,'UniProt Function',NULL,7377,NULL,'Plays a role in axonemal structure organization and motility (PubMed:23891469, PubMed:23891471). Involved in axonemal pre-assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility (By similarity). May act by indirectly regulating transcription of dynein proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(6073,'UniProt Function',NULL,7378,NULL,'Transcriptional repressor that plays a central role in somatic cells of the gonad and is required for germ cell development. Able to repress GATA transcription factor function (By similarity).',NULL,NULL,NULL,NULL,NULL),(6074,'UniProt Function',NULL,7379,NULL,'Involved in transcriptional regulation. Transcriptional activity differed among the various isoforms. All isoforms except isoform 3 seem to suppresses the transcriptional activities of AP-1 and p53/TP53.',NULL,NULL,NULL,NULL,NULL),(6075,'UniProt Function',NULL,7380,NULL,'Transcription repressor that plays a role in regulation of embryonic stem cells (ESCs) differentiation. Required for ESCs differentiation and acts by mediating autorepression of NANOG in ESCs: binds to the NANOG promoter and promotes association of NANOG protein to its own promoter and recruits the NuRD complex, which deacetylates histones. Not required for establishement and maintenance of ESCs (By similarity). Represses the transcription of a number of genes including GAST, ODC1 and VIM. Binds to the G-rich box in the enhancer region of these genes.',NULL,NULL,NULL,NULL,NULL),(6076,'UniProt Function',NULL,7381,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6077,'UniProt Function',NULL,7382,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6078,'UniProt Function',NULL,7383,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6079,'UniProt Function',NULL,7384,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6080,'UniProt Function',NULL,7385,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6081,'UniProt Function',NULL,7386,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6082,'UniProt Function',NULL,7387,NULL,'May play a role in neural and muscle differentiation (By similarity). May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6083,'UniProt Function',NULL,7388,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6084,'UniProt Function',NULL,7389,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6085,'UniProt Function',NULL,7390,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6086,'UniProt Function',NULL,7391,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6087,'UniProt Function',NULL,7392,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6088,'UniProt Function',NULL,7393,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6089,'UniProt Function',NULL,7394,NULL,'Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T-cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, but also in other nonbarrier tissues like liver and kidney, and therefore may provide immediate immunological protection against reactivating infections or viral reinfection. Plays also a role in the differentiation of both thymic and peripheral NKT cells. Negatively regulates the accumulation of interferon-gamma (IFN-gamma) in NKT cells at steady state or after antigenic stimulation. Positively regulates granzyme B production in NKT cells after innate stimulation. Associates with the transcriptional repressor PRDM1/BLIMP1 to chromatin at gene promoter regions.',NULL,NULL,NULL,NULL,NULL),(6090,'UniProt Function',NULL,7394,NULL,'Isoform 1: Lacks transcriptional repressor activity. Binds to DNA within promoter regions of the transcriptional repressor PRDM1/BLIMP1 target sites. Unable to regulate interferon-gamma (IFN-gamma) production in cytomegalovirus (CMV)-infected effector CD8(+) T-cells.',NULL,NULL,NULL,NULL,NULL),(6091,'UniProt Function',NULL,7394,NULL,'Isoform 2: Transcriptional repressor that binds to DNA within promoter regions of the transcriptional repressor PRDM1/BLIMP1 target sites. Regulates interferon-gamma (IFN-gamma) production in cytomegalovirus (CMV)-infected effector CD8(+) T cells.',NULL,NULL,NULL,NULL,NULL),(6092,'UniProt Function',NULL,7395,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6093,'UniProt Function',NULL,7396,NULL,'Acts as a transcriptional activator. Promotes cell proliferation by facilitating the cell cycle phase transition from the S to G2/M phase. Involved in both the hemin- and phorbol myristate acetate (PMA)-induced erythroid and megakaryocytic differentiation, respectively. Plays also a role as an inhibitor of cell apoptosis.',NULL,NULL,NULL,NULL,NULL),(6094,'UniProt Function',NULL,7397,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6095,'UniProt Function',NULL,7401,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6096,'UniProt Function',NULL,7402,NULL,'Specifically hydrolyzes \'Lys-29\'-linked and \'Lys-33\'-linked diubiquitin. Also cleaves \'Lys-63\'-linked chains, but with 40-fold less efficiency compared to \'Lys-29\'-linked ones. Positive regulator of the Wnt signaling pathway that deubiquitinates APC protein, a negative regulator of Wnt-mediated transcription. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the stress fiber dynamics and cell migration. May also modulate TNF-alpha signaling.',NULL,NULL,NULL,NULL,NULL),(6097,'UniProt Function',NULL,7403,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6098,'UniProt Function',NULL,7404,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6099,'UniProt Function',NULL,7405,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6100,'UniProt Function',NULL,7406,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6101,'UniProt Function',NULL,7409,NULL,'May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the \'ATA(A/T)\' motif in the apical loop.',NULL,NULL,NULL,NULL,NULL),(6102,'UniProt Function',NULL,7410,NULL,'DNA-binding protein that binds to the to a 5\'-TGTACAGTGT-3\' core sequence. May function as a transcriptional transactivator and transcriptional repressor. Probably exerts its repressor effect by preventing GATA3 from binding to DNA. May play a role in regulating the differentiation and activation of helper T-cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(6103,'UniProt Function',NULL,7411,NULL,'May play a role in mRNA transport.',NULL,NULL,NULL,NULL,NULL),(6104,'UniProt Function',NULL,7413,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6105,'UniProt Function',NULL,7414,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6106,'UniProt Function',NULL,7415,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6107,'UniProt Function',NULL,7416,NULL,'Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane. This affects rapid intracellular signaling by sex hormones via ERK and AKT kinases and the generation of cAMP, but does not affect that mediated by their nuclear receptor (By similarity).',NULL,NULL,NULL,NULL,NULL),(6108,'UniProt Function',NULL,7417,NULL,'Plays a role in cell adhesion, and thereby in cell motility which requires repeated formation and disassembly of focal adhesions. Regulates microtubule-induced PTK2/FAK1 dephosphorylation, an event important for focal adhesion disassembly, as well as integrin beta-1/ITGB1 cell surface expression.',NULL,NULL,NULL,NULL,NULL),(6109,'UniProt Function',NULL,7418,NULL,'May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses (PubMed:11352661). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity).',NULL,NULL,NULL,NULL,NULL),(6110,'UniProt Function',NULL,7419,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6111,'UniProt Function',NULL,7420,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6112,'UniProt Function',NULL,7421,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6113,'UniProt Function',NULL,7423,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6114,'UniProt Function',NULL,7425,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6115,'UniProt Function',NULL,7426,NULL,'May play a role in hematopoietic stem/progenitor cell differentiation. May play a role as a DNA binding-dependent transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(6116,'UniProt Function',NULL,7427,NULL,'Isoform 1 acts as a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(6117,'UniProt Function',NULL,7428,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6118,'UniProt Function',NULL,7429,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6119,'UniProt Function',NULL,7430,NULL,'Negatively modulates the DNA binding activity of Oct-2 and therefore its transcriptional regulatory activity. Could act either by binding to DNA octamer or by interacting with Oct-2. May also be a modulator of other octamer-binding proteins.',NULL,NULL,NULL,NULL,NULL),(6120,'UniProt Function',NULL,7431,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6121,'UniProt Function',NULL,7432,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6122,'UniProt Function',NULL,7433,NULL,'Probable transcription repressor. Specifically binds to the 3\'-end of zinc-finger coding genes and recruiting chromatin-modifying proteins such as SETDB1 and TRIM28/KAP1, leading to transcription repression. The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3\'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (PubMed:27029610).',NULL,NULL,NULL,NULL,NULL),(6123,'UniProt Function',NULL,7434,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6124,'UniProt Function',NULL,7435,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6125,'UniProt Function',NULL,7436,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6126,'UniProt Function',NULL,7437,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6127,'UniProt Function',NULL,7438,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6128,'UniProt Function',NULL,7439,NULL,'Involved in accumulation of zinc in synaptic vesicles.',NULL,NULL,NULL,NULL,NULL),(6129,'UniProt Function',NULL,7442,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6130,'UniProt Function',NULL,7443,NULL,'May be involved in transcriptional regulation during the post-meiotic stages of spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(6131,'UniProt Function',NULL,7444,NULL,'Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4.',NULL,NULL,NULL,NULL,NULL),(6132,'UniProt Function',NULL,7445,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6133,'UniProt Function',NULL,7446,NULL,'May play a role in protein trafficking. May act as a linker molecule between the submembranous matrix on the luminal side of zymogen granule membrane (ZGM) and aggregated secretory proteins during granule formation in the TGN.',NULL,NULL,NULL,NULL,NULL),(6134,'UniProt Function',NULL,7447,NULL,'Involved in the reprogramming of X-chromosome inactivation during the acquisition of pluripotency. Required for efficient elongation of TSIX, a non-coding RNA antisense to XIST. Binds DXPas34 enhancer within the TSIX promoter. Involved in ES cell self-renewal (By similarity).',NULL,NULL,NULL,NULL,NULL),(6135,'UniProt Function',NULL,7448,NULL,'Increases ligand-dependent transcriptional activity of AR and other nuclear hormone receptors.',NULL,NULL,NULL,NULL,NULL),(6136,'UniProt Function',NULL,7449,NULL,'May be involved in transcriptional regulation as a repressor. Plays a role in limb development.',NULL,NULL,NULL,NULL,NULL),(6137,'UniProt Function',NULL,7450,NULL,'This protein specifically binds to the DNA sequence 5\'-GGGACTTTCC-3\' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T-cell activation.',NULL,NULL,NULL,NULL,NULL),(6138,'UniProt Function',NULL,7452,NULL,'Transcriptional factor that binds to the consensus sequence 5\'-[GT][AG][AGT]GGGG-3\' and acts as a repressor of autophagy. Specifically represses expression of genes involved in autophagy and lysosome biogenesis/function such as MAP1LC3B, ULK1 or WIPI2. Associates with chromatin at the ITGB4 and VEGF promoters. Also acts as a transcription activator and promotes cancer cell progression and/or migration in various tumors and myelomas.',NULL,NULL,NULL,NULL,NULL),(6139,'UniProt Function',NULL,7455,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6140,'UniProt Function',NULL,7456,NULL,'Component of some chromatin remodeling multiprotein complex that plays a role during spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(6141,'UniProt Function',NULL,7457,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6142,'UniProt Function',NULL,7458,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6143,'UniProt Function',NULL,7459,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6144,'UniProt Function',NULL,7460,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6145,'UniProt Function',NULL,7461,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6146,'UniProt Function',NULL,7463,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6147,'UniProt Function',NULL,7464,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6148,'UniProt Function',NULL,7465,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6149,'UniProt Function',NULL,7466,NULL,'Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, and regulates mRNA stability (PubMed:24284625, PubMed:26046440, PubMed:26318451). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in mRNA stability and processing (PubMed:22575960, PubMed:24284625, PubMed:25412658, PubMed:25412661). Acts as a regulator of mRNA stability: binding to m6A-containing mRNAs results in the localization to mRNA decay sites, such as processing bodies (P-bodies), leading to mRNA degradation (PubMed:24284625, PubMed:26046440). Required maternally to regulate oocyte maturation: probably acts by binding to m6A-containing mRNAs, thereby regulating maternal transcript dosage during oocyte maturation, which is essential for the competence of oocytes to sustain early zygotic development (By similarity). Also involved in haematopoietic stem cells specification: acts by binding to m6A-containing mRNAs, leading to decrease Notch dignaling and promote endothelial to haematopoietic transition (By similarity). Also acts as a promoter of cap-independent mRNA translation following heat shock stress: upon stress, relocalizes to the nucleus and specifically binds mRNAs with some m6A methylation mark at their 5\'-UTR, protecting demethylation of mRNAs by FTO, thereby promoting cap-independent mRNA translation (PubMed:26458103). May inhibit replication of kaposis sarcoma-associated herpesvirus (KSHV); its role is however unclear and additional evidences are needed to confirm such results (PubMed:29109479).',NULL,NULL,NULL,NULL,NULL),(6150,'UniProt Function',NULL,7466,NULL,'(Microbial infection) Promotes viral gene expression and replication of polyomavirus SV40: acts by binding to N6-methyladenosine (m6A)-containing viral RNAs (PubMed:29447282).',NULL,NULL,NULL,NULL,NULL),(6151,'UniProt Function',NULL,7466,NULL,'(Microbial infection) Promotes viral gene expression and virion production of kaposis sarcoma-associated herpesvirus (KSHV) at some stage of the KSHV life cycle (in iSLK.219 and iSLK.BAC16 cells) (PubMed:29659627). Acts by binding to N6-methyladenosine (m6A)-containing viral RNAs (PubMed:29659627).',NULL,NULL,NULL,NULL,NULL),(6152,'UniProt Function',NULL,7467,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6153,'UniProt Function',NULL,7468,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6154,'UniProt Function',NULL,7469,NULL,'Palmitoyltransferase specific for a subset of neuronal proteins, including SNAP25, DLG4/PSD95, GAD2, SYT1 and HTT (PubMed:15603740, PubMed:15489887, PubMed:19139280, PubMed:28757145). May be involved in the sorting or targeting of critical proteins involved in the initiating events of endocytosis at the plasma membrane (PubMed:12393793). May play a role in Mg(2+) transport (PubMed:18794299).',NULL,NULL,NULL,NULL,NULL),(6155,'UniProt Function',NULL,7470,NULL,'Required for cis-Golgi integrity and efficient ER to Golgi transport. Involved in the maintenance of the integrity of the cis-Golgi, possibly via its interaction with GOLGA2/GM130.',NULL,NULL,NULL,NULL,NULL),(6156,'UniProt Function',NULL,7471,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6157,'UniProt Function',NULL,7472,NULL,'Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal GLI-consensus sequence 5\'-TGGGTGGTC-3\'. Associates to the basal SERT promoter region from ventrotemporal retinal segments of retinal embryos.',NULL,NULL,NULL,NULL,NULL),(6158,'UniProt Function',NULL,7473,NULL,'Transcriptional activator of the dopamine transporter (DAT), binding it\'s promoter at the consensus sequence 5\'-CCTGCACAGTTCACGGA-3\'. Binds to 5\'-d(GCC)(n)-3\' trinucleotide repeats in promoter regions and acts as a repressor of the FMR1 gene. Transcriptional repressor of MYC and thymidine kinase promoters.',NULL,NULL,NULL,NULL,NULL),(6159,'UniProt Function',NULL,7475,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6160,'UniProt Function',NULL,7476,NULL,'Catalyzes palmitoylation of Cys residues on target proteins (PubMed:27153536, PubMed:29326245). Catalyzes palmitoylation of Cys residues in the cytoplasmic C-terminus of EGFR, and modulates the duration of EGFR signaling by modulating palmitoylation-dependent EGFR internalization and degradation (PubMed:27153536). Has a preference for acyl-CoA with C16 fatty acid chains (PubMed:29326245). Can also utilize acyl-CoA with C14 and C18 fatty acid chains (PubMed:29326245).',NULL,NULL,NULL,NULL,NULL),(6161,'UniProt Function',NULL,7477,NULL,'May be a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(6162,'UniProt Function',NULL,7478,NULL,'Phosphatidylinositol 3-phosphate-binding protein required for the abcission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abcission. May also be required for efficient homologous recombination DNA double-strand break repair.',NULL,NULL,NULL,NULL,NULL),(6163,'UniProt Function',NULL,7479,NULL,'Plays a role of transcription factor; binds to recognition signal sequences (Rss heptamer) for somatic recombination of immunoglobulin and T-cell receptor gene segments; Binds also to the kappa-B motif of gene such as S100A4, involved in cell progression and differentiation. Kappa-B motif is a gene regulatory element found in promoters and enhancers of genes involved in immunity, inflammation, and growth and that responds to viral antigens, mitogens, and cytokines. Involvement of HIVEP3 in cell growth is strengthened by the fact that its down-regulation promotes cell cycle progression with ultimate formation of multinucleated giant cells. Strongly inhibits TNF-alpha-induced NF-kappa-B activation; Interferes with nuclear factor NF-kappa-B by several mechanisms: as transcription factor, by competing for Kappa-B motif and by repressing transcription in the nucleus; through a non transcriptional process, by inhibiting nuclear translocation of RELA by association with TRAF2, an adapter molecule in the tumor necrosis factor signaling, which blocks the formation of IKK complex. Interaction with TRAF proteins inhibits both NF-Kappa-B-mediated and c-Jun N-terminal kinase/JNK-mediated responses that include apoptosis and proinflammatory cytokine gene expression. Positively regulates the expression of IL2 in T-cell. Essential regulator of adult bone formation.',NULL,NULL,NULL,NULL,NULL),(6164,'UniProt Function',NULL,7480,NULL,'Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes.',NULL,NULL,NULL,NULL,NULL),(6165,'UniProt Function',NULL,7481,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6166,'UniProt Function',NULL,7482,NULL,'Transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(6167,'UniProt Function',NULL,7483,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6168,'UniProt Function',NULL,7484,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6169,'UniProt Function',NULL,7485,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6170,'UniProt Function',NULL,7486,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6171,'UniProt Function',NULL,7487,NULL,'Down-regulates the expression of several chemokine receptors. Interferes with HIV-1 replication by suppressing Tat-induced viral LTR promoter activity.',NULL,NULL,NULL,NULL,NULL),(6172,'UniProt Function',NULL,7488,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6173,'UniProt Function',NULL,7489,NULL,'Has a transcriptional repressor activity.',NULL,NULL,NULL,NULL,NULL),(6174,'UniProt Function',NULL,7490,NULL,'Plays a role in the regulation of cell morphology and cytoskeletal organization.',NULL,NULL,NULL,NULL,NULL),(6175,'UniProt Function',NULL,7491,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6176,'UniProt Function',NULL,7492,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6177,'UniProt Function',NULL,7493,NULL,'Plays a role in protein homeostasis by regulating both the translocation and the ubiquitin-mediated proteasomal degradation of nascent proteins at the endoplasmic reticulum. It is involved in the regulation of signal-mediated translocation of proteins into the endoplasmic reticulum. It also plays a role in the ubiquitin-mediated proteasomal degradation of proteins for which signal-mediated translocation to the endoplasmic reticulum has failed. May therefore function in the endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (By similarity). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333).',NULL,NULL,NULL,NULL,NULL),(6178,'UniProt Function',NULL,7494,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6179,'UniProt Function',NULL,7495,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6180,'UniProt Function',NULL,7496,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6181,'UniProt Function',NULL,7498,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6182,'UniProt Function',NULL,7499,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6183,'UniProt Function',NULL,7500,NULL,'Transcription factor that acts as a cardiac regulator and an effector of alpha1-adrenergic signaling. Binds to PE response elements (PERE) present in the promoter of genes such as ANF/NPPA and acts as a direct transcriptional activator of NPPA. Also acts as a cofactor with GATA4, a key cardiac regulator (By similarity).',NULL,NULL,NULL,NULL,NULL),(6184,'UniProt Function',NULL,7501,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6185,'UniProt Function',NULL,7502,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6186,'UniProt Function',NULL,7503,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6187,'UniProt Function',NULL,7504,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6188,'UniProt Function',NULL,7505,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6189,'UniProt Function',NULL,7506,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6190,'UniProt Function',NULL,7507,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6191,'UniProt Function',NULL,7508,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6192,'UniProt Function',NULL,7509,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6193,'UniProt Function',NULL,7510,NULL,'Transcriptional regulator that binds to the promoter and activates the transcription of genes promoting brown adipose tissue (BAT) differentiation. Among brown adipose tissue-specific genes, binds the proximal region of the promoter of the UCP1 gene to activate its transcription and thereby regulate thermogenesis (By similarity). May also play a role in the cellular response to replication stress (PubMed:23446422).',NULL,NULL,NULL,NULL,NULL),(6194,'UniProt Function',NULL,7511,NULL,'Transcription repressor that specifically binds to the 5\'-TATTTT[T/G]-3\' consensus sequence on promoters and repress transcription of PGC-1-alpha (PPARGC1A), thereby playing a role in regulation of neuron death.',NULL,NULL,NULL,NULL,NULL),(6195,'UniProt Function',NULL,7512,NULL,'Transcription factor that promotes adipocyte differentiation and suppresses osteoblast differentiation in the bone marrow. Enhances the osteoclast-supporting ability of stromal cells. Binds with STAT3 the consensus sequence 5\'-CTTCTGGGAAGA-3\' of the acute phase response element (APRE). Transactivates several promoters including FOS, OSM and PPARG. Recruits a histone deacetylase complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(6196,'UniProt Function',NULL,7513,NULL,'The mammalian zona pellucida, which mediates species-specific sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy, is composed of three to four glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP3 is essential for sperm binding and zona matrix formation.',NULL,NULL,NULL,NULL,NULL),(6197,'UniProt Function',NULL,7514,NULL,'Transcriptional repressor. May modulate BMP and TGF-beta signal transduction, through its interaction with SMAD proteins.',NULL,NULL,NULL,NULL,NULL),(6198,'UniProt Function',NULL,7515,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6199,'UniProt Function',NULL,7516,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6200,'UniProt Function',NULL,7518,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6201,'UniProt Function',NULL,7519,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(6202,'UniProt Function',NULL,7520,NULL,'Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners. TAS1R3 is essential for the recognition and response to the disaccharide trehalose (By similarity). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses.',NULL,NULL,NULL,NULL,NULL),(6203,'UniProt Function',NULL,7521,NULL,'In complex with TSC1, this tumor suppressor inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling (PubMed:12271141, PubMed:28215400). Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (PubMed:15340059). May also play a role in microtubule-mediated protein transport (By similarity). Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(6204,'UniProt Function',NULL,7522,NULL,'Transcriptional regulator involved in developmental processes. Function in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter (By similarity). Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6205,'UniProt Function',NULL,7523,NULL,'Regulates ADAM10 maturation.',NULL,NULL,NULL,NULL,NULL),(6206,'UniProt Function',NULL,7527,NULL,'May play a role in signalling in oligodendrocytes in the early stages of their terminal differentiation into myelin-forming glia and may also function in stabilizing the mature sheath.',NULL,NULL,NULL,NULL,NULL),(6207,'UniProt Function',NULL,7529,NULL,'Regulates ADAM10 maturation and trafficking to the cell surface. Promotes ADAM10-mediated cleavage of CD44.',NULL,NULL,NULL,NULL,NULL),(6208,'UniProt Function',NULL,7530,NULL,'DNA-binding protein that specifically recognizes consensus sequences at the breakpoint junctions in chromosomal translocations, mostly involving immunoglobulin (Ig)/T-cell receptor gene segments. Seems to recognize single-stranded DNA ends generated by staggered breaks occurring at recombination hot spots.',NULL,NULL,NULL,NULL,NULL),(6209,'UniProt Function',NULL,7530,NULL,'Exhibits both single-stranded and double-stranded endoribonuclease activity. May act as an activator of RNA-induced silencing complex (RISC) by facilitating endonucleolytic cleavage of the siRNA passenger strand.',NULL,NULL,NULL,NULL,NULL),(6210,'UniProt Function',NULL,7531,NULL,'May be involved in sperm differentiation and proliferation.',NULL,NULL,NULL,NULL,NULL),(6211,'UniProt Function',NULL,7535,NULL,'Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Can bind to fibrinogen, fibronectin, laminin and type V collagen.',NULL,NULL,NULL,NULL,NULL),(6212,'UniProt Function',NULL,7536,NULL,'Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions and is involved in various processes including cellular proliferation, migration, adhesion and attachment, inflammatory response to CNS injury, regulation of vascular inflammation and adaptive responses of the heart to pressure overload and in myocardial function and remodeling. Binds to structural extracellular matrix (ECM) proteins and modulates the ECM in response to tissue damage, contributing to cardioprotective and adaptive ECM remodeling. Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors and protects myocardium from pressure overload. May contribute to spinal presynaptic hypersensitivity and neuropathic pain states after peripheral nerve injury. May play a role in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury in a NOTCH1-dependent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(6213,'UniProt Function',NULL,7537,NULL,'Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates \'Ser-288\' of TSKS. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. During spermatogenesis, required for the transformation of a ring-shaped structure around the base of the flagellum originating from the chromatoid body.',NULL,NULL,NULL,NULL,NULL),(6214,'UniProt Function',NULL,7538,NULL,'Serine/threonine kinase which is able to phosphorylate TAU on serine, threonine and tyrosine residues. Induces aggregation of TAU.',NULL,NULL,NULL,NULL,NULL),(6215,'UniProt Function',NULL,7541,NULL,'Required for sperm production and function. Plays a role in DNA condensation during postmeiotic chromatin remodeling (By similarity).',NULL,NULL,NULL,NULL,NULL),(6216,'UniProt Function',NULL,7542,NULL,'Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Negatively modulates the SHH signal transduction (By similarity).',NULL,NULL,NULL,NULL,NULL),(6217,'UniProt Function',NULL,7543,NULL,'Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1 (PubMed:21278747, PubMed:28673544). Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity (PubMed:28673544).',NULL,NULL,NULL,NULL,NULL),(6218,'UniProt Function',NULL,7544,NULL,'Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip.',NULL,NULL,NULL,NULL,NULL),(6219,'UniProt Function',NULL,7549,NULL,'Multifunctional nucleolar protein that terminates ribosomal gene transcription, mediates replication fork arrest and regulates RNA polymerase I transcription on chromatin. Plays a dual role in rDNA regulation, being involved in both activation and silencing of rDNA transcription. Interaction with BAZ2A/TIP5 recovers DNA-binding activity.',NULL,NULL,NULL,NULL,NULL),(6220,'UniProt Function',NULL,7550,NULL,'Inactive polyglycylase.',NULL,NULL,NULL,NULL,NULL),(6221,'UniProt Function',NULL,7551,NULL,'Catalyzes the post-translational addition of a tyrosine to the C-terminal end of detyrosinated alpha-tubulin.',NULL,NULL,NULL,NULL,NULL),(6222,'UniProt Function',NULL,7552,NULL,'Catalytic subunit of the neuronal tubulin polyglutamylase complex. Modifies alpha- and beta-tubulin, generating side chains of glutamate on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin (By similarity).',NULL,NULL,NULL,NULL,NULL),(6223,'UniProt Function',NULL,7553,NULL,'Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(6224,'UniProt Function',NULL,7554,NULL,'Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis (PubMed:9703499, PubMed:10330172, PubMed:10751406, PubMed:11279239, PubMed:12115244, PubMed:12748283, PubMed:15187101, PubMed:15634918, PubMed:17030620, PubMed:16702957, PubMed:20702587, PubMed:20221403, PubMed:21775632, PubMed:27193233, PubMed:23644599, PubMed:25815583). Acts as an 3\'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery (PubMed:15687258, PubMed:23644599). Recruits deadenylase CNOT7 (and probably the CCR4-NOT complex) via association with CNOT1, and hence promotes ARE-mediated mRNA deadenylation (PubMed:23644599). Functions also by recruiting components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs (PubMed:11719186, PubMed:12748283, PubMed:15687258, PubMed:16364915). Self regulates by destabilizing its own mRNA (PubMed:15187101). Binds to 3\'-UTR ARE of numerous mRNAs and of its own mRNA (PubMed:10330172, PubMed:10751406, PubMed:12115244, PubMed:15187101, PubMed:15634918, PubMed:17030620, PubMed:16702957, PubMed:19188452, PubMed:20702587, PubMed:20221403, PubMed:21775632, PubMed:25815583). Plays a role in anti-inflammatory responses; suppresses tumor necrosis factor (TNF)-alpha production by stimulating ARE-mediated TNF-alpha mRNA decay and several other inflammatory ARE-containing mRNAs in interferon (IFN)- and/or lipopolysaccharide (LPS)-induced macrophages (By similarity). Plays also a role in the regulation of dendritic cell maturation at the post-transcriptional level, and hence operates as part of a negative feedback loop to limit the inflammatory response (PubMed:18367721). Promotes ARE-mediated mRNA decay of hypoxia-inducible factor HIF1A mRNA during the response of endothelial cells to hypoxia (PubMed:21775632). Positively regulates early adipogenesis of preadipocytes by promoting ARE-mediated mRNA decay of immediate early genes (IEGs) (By similarity). Negatively regulates hematopoietic/erythroid cell differentiation by promoting ARE-mediated mRNA decay of the transcription factor STAT5B mRNA (PubMed:20702587). Plays a role in maintaining skeletal muscle satellite cell quiescence by promoting ARE-mediated mRNA decay of the myogenic determination factor MYOD1 mRNA (By similarity). Associates also with and regulates the expression of non-ARE-containing target mRNAs at the post-transcriptional level, such as MHC class I mRNAs (PubMed:18367721). Participates in association with argonaute RISC catalytic components in the ARE-mediated mRNA decay mechanism; assists microRNA (miRNA) targeting ARE-containing mRNAs (PubMed:15766526). May also play a role in the regulation of cytoplasmic mRNA decapping; enhances decapping of ARE-containing RNAs, in vitro (PubMed:16364915). Involved in the delivery of target ARE-mRNAs to processing bodies (PBs) (PubMed:17369404). In addition to its cytosolic mRNA-decay function, affects nuclear pre-mRNA processing (By similarity). Negatively regulates nuclear poly(A)-binding protein PABPN1-stimulated polyadenylation activity on ARE-containing pre-mRNA during LPS-stimulated macrophages (By similarity). Also involved in the regulation of stress granule (SG) and P-body (PB) formation and fusion (By similarity). Plays a role in the regulation of keratinocyte proliferation, differentiation and apoptosis (PubMed:27182009). Plays a role as a tumor suppressor by inhibiting cell proliferation in breast cancer cells (PubMed:26926077).',NULL,NULL,NULL,NULL,NULL),(6225,'UniProt Function',NULL,7554,NULL,'(Microbial infection) Negatively regulates HTLV-1 TAX-dependent transactivation of viral long terminal repeat (LTR) promoter.',NULL,NULL,NULL,NULL,NULL),(6226,'UniProt Function',NULL,7556,NULL,'Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis (PubMed:12364621, PubMed:22553214, PubMed:23333306, PubMed:17190600, PubMed:21144835, PubMed:28241136). Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1 (PubMed:22553214, PubMed:23727112, PubMed:23333306). In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites (PubMed:28241136). Recruited to DSBs sites by recognizing and binding histone H2A monoubiquitinated at \'Lys-15\' (H2AK15Ub) and histone H4 dimethylated at \'Lys-20\' (H4K20me2), two histone marks that are present at DSBs sites (PubMed:23760478, PubMed:28241136, PubMed:17190600). Required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (PubMed:23345425). Participates to the repair and the orientation of the broken DNA ends during CSR (By similarity). In contrast, it is not required for classic NHEJ and V(D)J recombination (By similarity). Promotes NHEJ of dysfunctional telomeres via interaction with PAXIP1 (PubMed:23727112).',NULL,NULL,NULL,NULL,NULL),(6227,'UniProt Function',NULL,7557,NULL,'Receptor for the cytotoxic ligand TRAIL. Contains a truncated death domain and hence is not capable of inducing apoptosis but protects against TRAIL-mediated apoptosis. Reports are contradictory with regards to its ability to induce the NF-kappa-B pathway. According to PubMed:9382840, it cannot but according to PubMed:9430226, it can induce the NF-kappa-B pathway.',NULL,NULL,NULL,NULL,NULL),(6228,'UniProt Function',NULL,7559,NULL,'Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine (PubMed:11097838, PubMed:11278579, PubMed:11248124 PubMed:15184369, PubMed:23612980, PubMed:29258289). Important for normal Ca(2+) ion homeostasis in the body, including bone and skin (By similarity). The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification (PubMed:15184369). Inactivation includes both a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism; the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating.',NULL,NULL,NULL,NULL,NULL),(6229,'UniProt Function',NULL,7560,NULL,'Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.',NULL,NULL,NULL,NULL,NULL),(6230,'UniProt Function',NULL,7561,NULL,'May play an important role in mediating p53/TP53-dependent apoptosis.',NULL,NULL,NULL,NULL,NULL),(6231,'UniProt Function',NULL,7562,NULL,'Converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Plays a direct role in facilitating neuronal migration.',NULL,NULL,NULL,NULL,NULL),(6232,'UniProt Function',NULL,7563,NULL,'Lineage-specific cytokine affecting the proliferation and maturation of megakaryocytes from their committed progenitor cells. It acts at a late stage of megakaryocyte development. It may be the major physiological regulator of circulating platelets.',NULL,NULL,NULL,NULL,NULL),(6233,'UniProt Function',NULL,7564,NULL,'Receptor for the cytotoxic ligand TNFSF10/TRAIL (PubMed:26457518). The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B.',NULL,NULL,NULL,NULL,NULL),(6234,'UniProt Function',NULL,7565,NULL,'Could be involved with bystin and tastin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation. Directly responsible for homophilic cell adhesion.',NULL,NULL,NULL,NULL,NULL),(6235,'UniProt Function',NULL,7566,NULL,'Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C, and by inositol 1,4,5-triphosphate receptors (ITPR) with bound IP3. May also be activated by internal calcium store depletion.',NULL,NULL,NULL,NULL,NULL),(6236,'UniProt Function',NULL,7567,NULL,'Form a receptor-activated non-selective calcium permeant cation channel. Acts as a cell-cell contact-dependent endothelial calcium entry channel. Probably operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Mediates cation entry, with an enhanced permeability to barium over calcium. May also be activated by intracellular calcium store depletion.',NULL,NULL,NULL,NULL,NULL),(6237,'UniProt Function',NULL,7568,NULL,'Acts as decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local ratio between TNFSF11 and TNFRSF11B. May also play a role in preventing arterial calcification. May act as decoy receptor for TNFSF10/TRAIL and protect against apoptosis. TNFSF10/TRAIL binding blocks the inhibition of osteoclastogenesis.',NULL,NULL,NULL,NULL,NULL),(6238,'UniProt Function',NULL,7569,NULL,'Component of the proteolytic cascade acting downstream of the 26S proteasome in the ubiquitin-proteasome pathway. May be able to complement the 26S proteasome function to some extent under conditions in which the latter is inhibited. Stimulates adipogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(6239,'UniProt Function',NULL,7570,NULL,'May modifie wobble uridines in specific arginine and glutamic acid tRNAs. Acts as a tumor suppressor by promoting the expression of LIN9.',NULL,NULL,NULL,NULL,NULL),(6240,'UniProt Function',NULL,7571,NULL,'Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA.',NULL,NULL,NULL,NULL,NULL),(6241,'UniProt Function',NULL,7572,NULL,'Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 RNA.',NULL,NULL,NULL,NULL,NULL),(6242,'UniProt Function',NULL,7573,NULL,'Catalyzes the last step of tRNA splicing, the transfer of the splice junction 2\'-phosphate from ligated tRNA to NAD to produce ADP-ribose 1\'\'-2\'\' cyclic phosphate.',NULL,NULL,NULL,NULL,NULL),(6243,'UniProt Function',NULL,7574,NULL,'Isoform 1 may possess glutaredoxin activity as well as thioredoxin reductase activity and induces actin and tubulin polymerization, leading to formation of cell membrane protrusions. Isoform 4 enhances the transcriptional activity of estrogen receptors alpha and beta while isoform 5 enhances the transcriptional activity of the beta receptor only. Isoform 5 also mediates cell death induced by a combination of interferon-beta and retinoic acid.',NULL,NULL,NULL,NULL,NULL),(6244,'UniProt Function',NULL,7575,NULL,'Involved in the early steps of selenocysteine biosynthesis and tRNA(Sec) charging to the later steps resulting in the cotranslational incorporation of selenocysteine into selenoproteins. Stabilizes the SECISBP2, EEFSEC and tRNA(Sec) complex. May be involved in the methylation of tRNA(Sec). Enhances efficiency of selenoproteins synthesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(6245,'UniProt Function',NULL,7576,NULL,'In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling (PubMed:12271141, PubMed:28215400). Seems not to be required for TSC2 GAP activity towards RHEB (PubMed:15340059). Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling (By similarity). Acts as a co-chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1 (PubMed:29127155). Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 ATPase activity (PubMed:29127155). Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155). Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1 (PubMed:16464865, PubMed:29127155).',NULL,NULL,NULL,NULL,NULL),(6246,'UniProt Function',NULL,7577,NULL,'Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential).',NULL,NULL,NULL,NULL,NULL),(6247,'UniProt Function',NULL,7580,NULL,'Plays an important role in normal erythropoiesis (By similarity). It has a role in the differentiation of erythroid progenitors (By similarity). Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10 (PubMed:26686862). Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity (PubMed:26686862).',NULL,NULL,NULL,NULL,NULL),(6248,'UniProt Function',NULL,7583,NULL,'May be involved in proteolysis through its threonine endopeptidase activity.',NULL,NULL,NULL,NULL,NULL),(6249,'UniProt Function',NULL,7585,NULL,'Can bind protoporphyrin IX and may play a role in the transport of porphyrins and heme (By similarity). Promotes the transport of cholesterol across mitochondrial membranes and may play a role in lipid metabolism (PubMed:24814875), but its precise physiological role is controversial. It is apparently not required for steroid hormone biosynthesis. Was initially identified as peripheral-type benzodiazepine receptor; can also bind isoquinoline carboxamides (PubMed:1847678).',NULL,NULL,NULL,NULL,NULL),(6250,'UniProt Function',NULL,7587,NULL,'Required during maturation of the 40S ribosomal subunit in the nucleolus.',NULL,NULL,NULL,NULL,NULL),(6251,'UniProt Function',NULL,7591,NULL,'Serine/threonine kinase which is involved in male germ cell development and in mature sperm function (By similarity). May be involved in the Cre/Creb signaling pathway (By similarity). Phosphorylates CREB1 on \'Ser-133\' in vitro and can stimulate Cre/Creb pathway in cells (PubMed:15964553). Phosphorylates CREM on \'Ser-116\' in vitro (By similarity). Phosphorylates ODF2 on \'Ser-95\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(6252,'UniProt Function',NULL,7594,NULL,'Plays a role in primary ciliogenesis by modulating actin polymerization.',NULL,NULL,NULL,NULL,NULL),(6253,'UniProt Function',NULL,7595,NULL,'Thiosulfate:glutathione sulfurtransferase (TST) required to produce S-sulfanylglutathione (GSS(-)), a central intermediate in hydrogen sulfide metabolism (PubMed:24981631). Provides the link between the first step in mammalian H(2)S metabolism performed by the sulfide:quinone oxidoreductase (SQOR) which catalyzes the conversion of H(2)S to thiosulfate, and the sulfur dioxygenase (SDO) which uses GSS(-) as substrate (PubMed:24981631). The thermodynamic coupling of the irreversible SDO and reversible TST reactions provides a model for the physiologically relevant reaction with thiosulfate as the sulfane donor (PubMed:24981631).',NULL,NULL,NULL,NULL,NULL),(6254,'UniProt Function',NULL,7599,NULL,'Regulates high density lipoprotein (HDL) cholesterol metabolism by promoting the ubiquitination and degradation of the oxysterols receptors LXR (NR1H2 and NR1H3).',NULL,NULL,NULL,NULL,NULL),(6255,'UniProt Function',NULL,7600,NULL,'Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:24417819). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (By similarity).',NULL,NULL,NULL,NULL,NULL),(6256,'UniProt Function',NULL,7601,NULL,'Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (PubMed:26571211).',NULL,NULL,NULL,NULL,NULL),(6257,'UniProt Function',NULL,7604,NULL,'Adapter protein involved in p53/TP53 response that acts by regulating and mediating the assembly of multi-protein complexes. Required to facilitate the interaction between JMY and p300/EP300 and increase p53/TP53-dependent transcription and apoptosis. Prevents p53/TP53 degradation by MDM2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(6258,'UniProt Function',NULL,7605,NULL,'Channel-forming protein essential for import of protein precursors into mitochondria.',NULL,NULL,NULL,NULL,NULL),(6259,'UniProt Function',NULL,7606,NULL,'Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5\'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3\'-OH DNA strand. The free DNA strand than undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3\'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). Possesses negatively supercoiled DNA relaxing activity.',NULL,NULL,NULL,NULL,NULL),(6260,'UniProt Function',NULL,7607,NULL,'Receptor for the heterotrimeric lymphotoxin containing LTA and LTB, and for TNFS14/LIGHT. Promotes apoptosis via TRAF3 and TRAF5. May play a role in the development of lymphoid organs.',NULL,NULL,NULL,NULL,NULL),(6261,'UniProt Function',NULL,7608,NULL,'Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Promotes tumors. Inhibits geranylgeranyl transferase type II activity by blocking the association between RABGGTA and RABGGTB.',NULL,NULL,NULL,NULL,NULL),(6262,'UniProt Function',NULL,7609,NULL,'Receptor for the cytotoxic ligand TRAIL. Lacks a cytoplasmic death domain and hence is not capable of inducing apoptosis. May protect cells against TRAIL mediated apoptosis by competing with TRAIL-R1 and R2 for binding to the ligand.',NULL,NULL,NULL,NULL,NULL),(6263,'UniProt Function',NULL,7610,NULL,'Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Has also been shown to be calcium-selective (By similarity). May also be activated by intracellular calcium store depletion.',NULL,NULL,NULL,NULL,NULL),(6264,'UniProt Function',NULL,7611,NULL,'Thought to form a receptor-activated non-selective calcium permeant cation channel (PubMed:19936226, PubMed:23291369). Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C (PubMed:26892346). Seems not to be activated by intracellular calcium store depletion.',NULL,NULL,NULL,NULL,NULL),(6265,'UniProt Function',NULL,7612,NULL,'Ligand-activated non-selective calcium permeant cation channel involved in detection of noxious chemical and thermal stimuli. Seems to mediate proton influx and may be involved in intracellular acidosis in nociceptive neurons. Involved in mediation of inflammatory pain and hyperalgesia. Sensitized by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases, which involves PKC isozymes and PCL. Activation by vanilloids, like capsaicin, and temperatures higher than 42 degrees Celsius, exhibits a time- and Ca(2+)-dependent outward rectification, followed by a long-lasting refractory state. Mild extracellular acidic pH (6.5) potentiates channel activation by noxious heat and vanilloids, whereas acidic conditions (pH <6) directly activate the channel. Can be activated by endogenous compounds, including 12-hydroperoxytetraenoic acid and bradykinin. Acts as ionotropic endocannabinoid receptor with central neuromodulatory effects. Triggers a form of long-term depression (TRPV1-LTD) mediated by the endocannabinoid anandamine in the hippocampus and nucleus accumbens by affecting AMPA receptors endocytosis.',NULL,NULL,NULL,NULL,NULL),(6266,'UniProt Function',NULL,7613,NULL,'Transcriptional coactivator of the p300/CBP-mediated transcription complex. Activates transactivation through cAMP response element (CRE) sites. Protects against cell death by inducing antiapoptotic and repressing pro-apoptotic transcripts. Stimulates transcription from the estrogen-responsive or BCL-2 promoters. Required for depolarization-induced transcription activation of the C-FOS promoter in neurons. Associates with chromatin to the estrogen-responsive C3 promoter region.',NULL,NULL,NULL,NULL,NULL),(6267,'UniProt Function',NULL,7614,NULL,'Component of the TRAPP complex, which is involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage (PubMed:21525244, PubMed:28777934). Also plays a role in chromosome congression, kinetochore assembly and stability and controls the recruitment of CENPE to the kinetochores (PubMed:25918224).',NULL,NULL,NULL,NULL,NULL),(6268,'UniProt Function',NULL,7615,NULL,'Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) (By similarity). May also be activated by intracellular calcium store depletion.',NULL,NULL,NULL,NULL,NULL),(6269,'UniProt Function',NULL,7616,NULL,'Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Seems to be also activated by intracellular calcium store depletion.',NULL,NULL,NULL,NULL,NULL),(6270,'UniProt Function',NULL,7617,NULL,'Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes.',NULL,NULL,NULL,NULL,NULL),(6271,'UniProt Function',NULL,7618,NULL,'May regulate cell migration.',NULL,NULL,NULL,NULL,NULL),(6272,'UniProt Function',NULL,7619,NULL,'Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis (PubMed:24601690). Maintains thioredoxin in a reduced state. May play a role in redox-regulated cell signaling.',NULL,NULL,NULL,NULL,NULL),(6273,'UniProt Function',NULL,7620,NULL,'Displays thioredoxin reductase, glutaredoxin and glutathione reductase activities. Catalyzes disulfide bond isomerization. Promotes disulfide bond formation between GPX4 and various sperm proteins and may play a role in sperm maturation by promoting formation of sperm structural components (By similarity).',NULL,NULL,NULL,NULL,NULL),(6274,'UniProt Function',NULL,7621,NULL,'Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity.',NULL,NULL,NULL,NULL,NULL),(6275,'UniProt Function',NULL,7622,NULL,'Probable component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(6276,'UniProt Function',NULL,7623,NULL,'Plays an important role in the control of DNA replication, maintenance of replication fork stability, maintenance of genome stability throughout normal DNA replication and in the regulation of the circadian clock. Involved in the determination of period length and in the DNA damage-dependent phase advancing of the circadian clock. Negatively regulates CLOCK|NPAS2-ARTNL/BMAL1|ARTNL2/BMAL2-induced transactivation of PER1 possibly via translocation of PER1 into the nucleus. Forms a complex with TIPIN and this complex regulates DNA replication processes under both normal and stress conditions, stabilizes replication forks and influences both CHEK1 phosphorylation and the intra-S phase checkpoint in response to genotoxic stress. Timeless promotes TIPIN nuclear localization. Involved in cell survival after DNA damage or replication stress. May be specifically required for the ATR-CHEK1 pathway in the replication checkpoint induced by hydroxyurea or ultraviolet light. May also play an important role in epithelial cell morphogenesis and formation of branching tubules.',NULL,NULL,NULL,NULL,NULL),(6277,'UniProt Function',NULL,7624,NULL,'Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.',NULL,NULL,NULL,NULL,NULL),(6278,'UniProt Function',NULL,7625,NULL,'Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Recruits mitochondrial HSP70 to drive protein translocation into the matrix using ATP as an energy source.',NULL,NULL,NULL,NULL,NULL),(6279,'UniProt Function',NULL,7626,NULL,'Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.',NULL,NULL,NULL,NULL,NULL),(6280,'UniProt Function',NULL,7627,NULL,'Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate.',NULL,NULL,NULL,NULL,NULL),(6281,'UniProt Function',NULL,7628,NULL,'Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however such activity may not be relevant in vivo.',NULL,NULL,NULL,NULL,NULL),(6282,'UniProt Function',NULL,7628,NULL,'Isoform 2: May participate in the release of snRNPs and SMN from the Cajal body.',NULL,NULL,NULL,NULL,NULL),(6283,'UniProt Function',NULL,7629,NULL,'Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES (By similarity).',NULL,NULL,NULL,NULL,NULL),(6284,'UniProt Function',NULL,7630,NULL,'Protease which specifically processes pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis.',NULL,NULL,NULL,NULL,NULL),(6285,'UniProt Function',NULL,7631,NULL,'Probably involved in connections of major cytoskeletal structures to the plasma membrane. High molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (By similarity).',NULL,NULL,NULL,NULL,NULL),(6286,'UniProt Function',NULL,7634,NULL,'Involved in nuclear movement during fibroblast polarization and migration. Proposed to be involved in actin-dependent nuclear movement via association with transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow (By similarity). Overexpression can recruit Ran GTPase to the nuclear periphery (PubMed:27541860).',NULL,NULL,NULL,NULL,NULL),(6287,'UniProt Function',NULL,7634,NULL,'Isoform 2: May define a distinct membrane domain in the vicinity of the mitotic spindle (PubMed:19494128). Involved in the organization of the nuclear envelope implicating EMD, SUN1 and A-type lamina (PubMed:21610090).',NULL,NULL,NULL,NULL,NULL),(6288,'UniProt Function',NULL,7636,NULL,'Component of the transition zone in primary cilia. Required for ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(6289,'UniProt Function',NULL,7639,NULL,'Promotes LRP6 phosphorylation by casein kinases and thereby plays a role in Wnt signaling. May be a membrane scaffold protein involved in the self-aggregation of LRP6 to further enhance its activity.',NULL,NULL,NULL,NULL,NULL),(6290,'UniProt Function',NULL,7642,NULL,'Participates in the innate immune response to Gram-positive bacteria and fungi. Specifically recognizes diacylated and, to a lesser extent, triacylated lipopeptides (PubMed:20037584). In response to diacylated lipopeptides, forms the activation cluster TLR2:TLR6:CD14:CD36, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Recognizes mycoplasmal macrophage-activating lipopeptide-2kD (MALP-2), soluble tuberculosis factor (STF), phenol-soluble modulin (PSM) and B.burgdorferi outer surface protein A lipoprotein (OspA-L) cooperatively with TLR2 (PubMed:11441107). In complex with TLR4, promotes sterile inflammation in monocytes/macrophages in response to oxidized low-density lipoprotein (oxLDL) or amyloid-beta 42. In this context, the initial signal is provided by oxLDL- or amyloid-beta 42-binding to CD36. This event induces the formation of a heterodimer of TLR4 and TLR6, which is rapidly internalized and triggers inflammatory response, leading to the NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway, as well as IL1B secretion (PubMed:11441107, PubMed:20037584).',NULL,NULL,NULL,NULL,NULL),(6291,'UniProt Function',NULL,7643,NULL,'Cooperates with LY96 to mediate the innate immune response to bacterial lipoproteins and other microbial cell wall components. Cooperates with TLR1 or TLR6 to mediate the innate immune response to bacterial lipoproteins or lipopeptides (PubMed:21078852, PubMed:17889651). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. May also activate immune cells and promote apoptosis in response to the lipid moiety of lipoproteins (PubMed:10426995, PubMed:10426996). Recognizes mycoplasmal macrophage-activating lipopeptide-2kD (MALP-2), soluble tuberculosis factor (STF), phenol-soluble modulin (PSM) and B.burgdorferi outer surface protein A lipoprotein (OspA-L) cooperatively with TLR6 (PubMed:11441107). Stimulation of monocytes in vitro with M.tuberculosis PstS1 induces p38 MAPK and ERK1/2 activation primarily via this receptor, but also partially via TLR4 (PubMed:16622205). MAPK activation in response to bacterial peptidoglycan also occurs via this receptor (PubMed:16622205). Acts as a receptor for M.tuberculosis lipoproteins LprA, LprG, LpqH and PstS1, some lipoproteins are dependent on other coreceptors (TLR1, CD14 and/or CD36); the lipoproteins act as agonists to modulate antigen presenting cell functions in response to the pathogen (PubMed:19362712). M.tuberculosis HSP70 (dnaK) but not HSP65 (groEL-2) acts via this protein to stimulate NF-kappa-B expression (PubMed:15809303). Recognizes M.tuberculosis major T-antigen EsxA (ESAT-6) which inhibits downstream MYD88-dependent signaling (shown in mouse) (By similarity). Forms activation clusters composed of several receptors depending on the ligand, these clusters trigger signaling from the cell surface and subsequently are targeted to the Golgi in a lipid-raft dependent pathway. Forms the cluster TLR2:TLR6:CD14:CD36 in response to diacylated lipopeptides and TLR2:TLR1:CD14 in response to triacylated lipopeptides (PubMed:16880211). Required for normal uptake of M.tuberculosis, a process that is inhibited by M.tuberculosis LppM (By similarity).',NULL,NULL,NULL,NULL,NULL),(6292,'UniProt Function',NULL,7645,NULL,'Plays an essential role in autophagy. TMEM74-induced autophagy may involve PI3K signal transduction.',NULL,NULL,NULL,NULL,NULL),(6293,'UniProt Function',NULL,7648,NULL,'May function as a regulator of the EGFR pathway. Probable tumor suppressor which may function in cell growth, proliferation and adhesion.',NULL,NULL,NULL,NULL,NULL),(6294,'UniProt Function',NULL,7650,NULL,'Serine protease that proteolytically cleaves and activates the viral spike glycoproteins which facilitate virus-cell membrane fusions; spike proteins are synthesized and maintained in precursor intermediate folding states and proteolysis permits the refolding and energy release required to create stable virus-cell linkages and membrane coalescence. Facilitates human SARS coronavirus (SARS-CoV) infection via two independent mechanisms, proteolytic cleavage of ACE2, which might promote viral uptake, and cleavage of coronavirus spike glycoprotein which activates the glycoprotein for cathepsin L-independent host cell entry. Proteolytically cleaves and activates the spike glycoproteins of human coronavirus 229E (HCoV-229E) and human coronavirus EMC (HCoV-EMC) and the fusion glycoproteins F0 of Sendai virus (SeV), human metapneumovirus (HMPV), human parainfluenza 1, 2, 3, 4a and 4b viruses (HPIV). Essential for spread and pathogenesis of influenza A virus (strains H1N1, H3N2 and H7N9); involved in proteolytic cleavage and activation of hemagglutinin (HA) protein which is essential for viral infectivity.',NULL,NULL,NULL,NULL,NULL),(6295,'UniProt Function',NULL,7651,NULL,'Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR (PubMed:21343306). Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface (By similarity). Acts as negative regulator of hepatocyte growth during regeneration (By similarity).',NULL,NULL,NULL,NULL,NULL),(6296,'UniProt Function',NULL,7651,NULL,'iHOPS: May contribute to the regulation of translation during cell-cycle progression. May contribute to the regulation of cell proliferation (By similarity). May be involved in centrosome assembly. Modulates stabilization and nucleolar localization of tumor suppressor CDKN2A and enhances association between CDKN2A and NPM1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(6297,'UniProt Function',NULL,7652,NULL,'May play a role in hearing.',NULL,NULL,NULL,NULL,NULL),(6298,'UniProt Function',NULL,7653,NULL,'Plays a role in the regulation of the translocation of GLUT4 to the cell surface in adipocytes and skeletal muscle cells in response to insulin, probably by regulating RAB31 activity, and thereby contributes to the regulation of insulin-dependent glucose uptake (By similarity). Low affinity receptor which can bind to NGF, BDNF, NT-3, and NT-4. Can mediate cell survival as well as cell death of neural cells. Necessary for the circadian oscillation of the clock genes ARNTL/BMAL1, PER1, PER2 and NR1D1 in the suprachiasmatic nucleus (SCN) of the brain and in liver and of the genes involved in glucose and lipid metabolism in the liver.',NULL,NULL,NULL,NULL,NULL),(6299,'UniProt Function',NULL,7654,NULL,'Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates (PubMed:24753571). Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Involved in nuclear import of M9-containing proteins. In vitro, binds directly to the M9 region of the heterogeneous nuclear ribonucleoproteins (hnRNP), A1 and A2 and mediates their nuclear import. Appears also to be involved in hnRNP A1/A2 nuclear export. Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones, and SRP19 (By similarity). Mediates nuclear import of ADAR/ADAR1 isoform 1 and isoform 5 in a RanGTP-dependent manner (PubMed:19124606, PubMed:24753571).',NULL,NULL,NULL,NULL,NULL),(6300,'UniProt Function',NULL,7654,NULL,'(Microbial infection) In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev.',NULL,NULL,NULL,NULL,NULL),(6301,'UniProt Function',NULL,7655,NULL,'Anti-proliferative protein inhibits cell cycle progression from the G0/G1 to S phases.',NULL,NULL,NULL,NULL,NULL),(6302,'UniProt Function',NULL,7658,NULL,'Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis. Involved in the regulation of interactions between T-cells and dendritic cells.',NULL,NULL,NULL,NULL,NULL),(6303,'UniProt Function',NULL,7659,NULL,'Receptor for TNFSF12/APO3L/TWEAK. Interacts directly with the adapter TRADD. Mediates activation of NF-kappa-B and induces apoptosis. May play a role in regulating lymphocyte homeostasis.',NULL,NULL,NULL,NULL,NULL),(6304,'UniProt Function',NULL,7660,NULL,'Central component of the receptor complex responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with TOM22 functions as the transit peptide receptor at the surface of the mitochondrion outer membrane and facilitates the movement of preproteins into the TOM40 translocation pore (By similarity).',NULL,NULL,NULL,NULL,NULL),(6305,'UniProt Function',NULL,7661,NULL,'Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. Within the complex, may act as a scaffold.',NULL,NULL,NULL,NULL,NULL),(6306,'UniProt Function',NULL,7662,NULL,'Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double-strand breaks.',NULL,NULL,NULL,NULL,NULL),(6307,'UniProt Function',NULL,7663,NULL,'Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent repression of translation and for siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As a scaffolding protein, associates with argonaute proteins bound to partially complementary mRNAs, and can simultaneously recruit CCR4-NOT and PAN deadenylase complexes.',NULL,NULL,NULL,NULL,NULL),(6308,'UniProt Function',NULL,7664,NULL,'Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent translational repression and siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes.',NULL,NULL,NULL,NULL,NULL),(6309,'UniProt Function',NULL,7666,NULL,'Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal membrane. May be involved in smooth muscle contraction.',NULL,NULL,NULL,NULL,NULL),(6310,'UniProt Function',NULL,7668,NULL,'Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments (By similarity). Binds calcium (PubMed:1836432).',NULL,NULL,NULL,NULL,NULL),(6311,'UniProt Function',NULL,7669,NULL,'DNA-binding factor that regulates the expression of a subset of genes and plays a key role in tangential, radial, and lateral expansion of the brain neocortex. Regulates neural stem cells proliferation and the production of intermediate neural progenitors and basal radial glial cells affecting the process of cerebral cortex gyrification. May control the proliferation rate of cells by regulating their progression through key cell-cycle transition points (By similarity).',NULL,NULL,NULL,NULL,NULL),(6312,'UniProt Function',NULL,7670,NULL,'Minor enzyme contributing to the isomerization of uridine to pseudouridine (pseudouridylation) of specific mitochondrial mRNAs (mt-mRNAs) such as COXI and COXIII mt-mRNAs (PubMed:27974379). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664).',NULL,NULL,NULL,NULL,NULL),(6313,'UniProt Function',NULL,7671,NULL,'Digestive protease that cleaves proteins preferentially after an Arg residue and has proteolytic activity toward Kunitz-type trypsin inhibitors.',NULL,NULL,NULL,NULL,NULL),(6314,'UniProt Function',NULL,7672,NULL,'Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Mediates the association between the ESCRT-0 and ESCRT-I complex. Required for completion of cytokinesis; the function requires CEP55. May be involved in cell growth and differentiation. Acts as a negative growth regulator. Involved in the budding of many viruses through an interaction with viral proteins that contain a late-budding motif P-[ST]-A-P. This interaction is essential for viral particle budding of numerous retroviruses. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). It may also play a role in the extracellular release of microvesicles that differ from the exosomes (PubMed:22315426).',NULL,NULL,NULL,NULL,NULL),(6315,'UniProt Function',NULL,7673,NULL,'Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses.',NULL,NULL,NULL,NULL,NULL),(6316,'UniProt Function',NULL,7675,NULL,'Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. Required for the stability of the TIM22 complex and functions in the assembly of the TIMM22 protein into the TIM22 complex. May facilitate cooperation between TIM22 and TOM complexes by interacting with TOMM40.',NULL,NULL,NULL,NULL,NULL),(6317,'UniProt Function',NULL,7677,NULL,'Adapter involved in TLR2 and TLR4 signaling pathways in the innate immune response. Acts via IRAK2 and TRAF-6, leading to the activation of NF-kappa-B, MAPK1, MAPK3 and JNK, and resulting in cytokine secretion and the inflammatory response. Positively regulates the production of TNF-alpha and interleukin-6.',NULL,NULL,NULL,NULL,NULL),(6318,'UniProt Function',NULL,7678,NULL,'Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate.',NULL,NULL,NULL,NULL,NULL),(6319,'UniProt Function',NULL,7679,NULL,'Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation. Phosphorylates the chromatin assembly factors ASF1A AND ASF1B. Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly. Negative regulator of amino acid starvation-induced autophagy.',NULL,NULL,NULL,NULL,NULL),(6320,'UniProt Function',NULL,7680,NULL,'Receptor for brain injury-derived neurotrophic peptide (BINP), a synthetic 13-mer peptide.',NULL,NULL,NULL,NULL,NULL),(6321,'UniProt Function',NULL,7681,NULL,'Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis (PubMed:25106868, PubMed:14981510). Acts as a 3\'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery (PubMed:25106868). Functions by recruiting the CCR4-NOT deadenylase complex and probably other components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promotes ARE-mediated mRNA deadenylation and decay processes (PubMed:25106868). Binds to 3\'-UTR ARE of numerous mRNAs (PubMed:20506496, PubMed:25106868, PubMed:14981510). Promotes ARE-containing mRNA decay of the low-density lipoprotein (LDL) receptor (LDLR) mRNA in response to phorbol 12-myristate 13-acetate (PMA) treatment in a p38 MAPK-dependent manner (PubMed:25106868). Positively regulates early adipogenesis by promoting ARE-mediated mRNA decay of immediate early genes (IEGs). Plays a role in mature peripheral neuron integrity by promoting ARE-containing mRNA decay of the transcriptional repressor REST mRNA. Plays a role in ovulation and oocyte meiotic maturation by promoting ARE-mediated mRNA decay of the luteinizing hormone receptor LHCGR mRNA. Acts as a negative regulator of erythroid cell differentiation: promotes glucocorticoid-induced self-renewal of erythroid cells by binding mRNAs that are induced or highly expressed during terminal erythroid differentiation and promotes their degradation, preventing erythroid cell differentiation. In association with ZFP36L1 maintains quiescence on developing B lymphocytes by promoting ARE-mediated decay of several mRNAs encoding cell cycle regulators that help B cells progress through the cell cycle, and hence ensuring accurate variable-diversity-joining (VDJ) recombination process and functional immune cell formation. Together with ZFP36L1 is also necessary for thymocyte development and prevention of T-cell acute lymphoblastic leukemia (T-ALL) transformation by promoting ARE-mediated mRNA decay of the oncogenic transcription factor NOTCH1 mRNA.',NULL,NULL,NULL,NULL,NULL),(6322,'UniProt Function',NULL,7683,NULL,'Receptor for BTLA. Receptor for TNFSF14/LIGHT and homotrimeric TNFSF1/lymphotoxin-alpha. Involved in lymphocyte activation. Plays an important role in HSV pathogenesis because it enhanced the entry of several wild-type HSV strains of both serotypes into CHO cells, and mediated HSV entry into activated human T-cells.',NULL,NULL,NULL,NULL,NULL),(6323,'UniProt Function',NULL,7683,NULL,'(Microbial infection) Acts as a receptor for Herpes simplex virus 1/HHV-1.',NULL,NULL,NULL,NULL,NULL),(6324,'UniProt Function',NULL,7683,NULL,'(Microbial infection) Acts as a receptor for Herpes simplex virus 2/HHV-2.',NULL,NULL,NULL,NULL,NULL),(6325,'UniProt Function',NULL,7684,NULL,'Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex (PubMed:8632892, PubMed:23236473). Mediates CPEB3-accelerated mRNA deadenylation by binding to CPEB3 and recruiting CNOT7 which leads to target mRNA deadenylation and decay (PubMed:21336257).',NULL,NULL,NULL,NULL,NULL),(6326,'UniProt Function',NULL,7685,NULL,'Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3\'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5\'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus removing DNA supercoils. Finally, in the religation step, the DNA 5\'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity).',NULL,NULL,NULL,NULL,NULL),(6327,'UniProt Function',NULL,7686,NULL,'Plays a role in RNA-mediated gene silencing by micro-RNAs (miRNAs). Required for miRNA-dependent translational repression of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes.',NULL,NULL,NULL,NULL,NULL),(6328,'UniProt Function',NULL,7687,NULL,'May act in the targeting of the tubulin polyglutamylase complex. Required for the development of the spermatid flagellum (By similarity).',NULL,NULL,NULL,NULL,NULL),(6329,'UniProt Function',NULL,7688,NULL,'Catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine (also called mercaptopurine, 6-MP or its brand name Purinethol) and 6-thioguanine (also called tioguanine or 6-TG) using S-adenosyl-L-methionine as the methyl donor (PubMed:657528, PubMed:18484748). TPMT activity modulates the cytotoxic effects of thiopurine prodrugs. A natural substrate for this enzyme has yet to be identified.',NULL,NULL,NULL,NULL,NULL),(6330,'UniProt Function',NULL,7689,NULL,'Cell surface receptor that may play a role in the innate and adaptive immune response.',NULL,NULL,NULL,NULL,NULL),(6331,'UniProt Function',NULL,7690,NULL,'Positively regulates Toll-like receptor TLR7 signaling in macrophages.',NULL,NULL,NULL,NULL,NULL),(6332,'UniProt Function',NULL,7691,NULL,'S-adenosyl-L-methionine-dependent methyltransferase responsible for the addition of the methyl group in the formation of N6-methyl-N6-threonylcarbamoyladenosine at position 37 (m(6)t(6)A37) of the tRNA anticodon loop of tRNA(Ser)(GCU) (PubMed:25063302). The methyl group of m(6)t(6)A37 may improve the efficiency of the tRNA decoding ability. May bind to tRNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(6333,'UniProt Function',NULL,7692,NULL,'Probably functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity).',NULL,NULL,NULL,NULL,NULL),(6334,'UniProt Function',NULL,7693,NULL,'Receptor for TNFSF12/TWEAK. Weak inducer of apoptosis in some cell types. Promotes angiogenesis and the proliferation of endothelial cells. May modulate cellular adhesion to matrix proteins.',NULL,NULL,NULL,NULL,NULL),(6335,'UniProt Function',NULL,7694,NULL,'Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase.',NULL,NULL,NULL,NULL,NULL),(6336,'UniProt Function',NULL,7695,NULL,'Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis. May be involved in the progression of cardiac hypertrophy by inhibiting intracellular calcium mobilization in response to angiotensin II.',NULL,NULL,NULL,NULL,NULL),(6337,'UniProt Function',NULL,7696,NULL,'Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.',NULL,NULL,NULL,NULL,NULL),(6338,'UniProt Function',NULL,7697,NULL,'Isoform 1: Adds and repairs the conserved 3\'-CCA sequence necessary for the attachment of amino acids to the 3\' terminus of tRNA molecules, using CTP and ATP as substrates.',NULL,NULL,NULL,NULL,NULL),(6339,'UniProt Function',NULL,7697,NULL,'Isoform 2: Adds 2 C residues (CC-) to the 3\' terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro).',NULL,NULL,NULL,NULL,NULL),(6340,'UniProt Function',NULL,7698,NULL,'Could be involved with bystin and trophinin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation.',NULL,NULL,NULL,NULL,NULL),(6341,'UniProt Function',NULL,7699,NULL,'Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity. Isoform 2 cleaves large substrates, such as fibronectin, more efficiently than isoform 1, but seems less efficient toward small substrates (PubMed:18854315).',NULL,NULL,NULL,NULL,NULL),(6342,'UniProt Function',NULL,7701,NULL,'Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box.',NULL,NULL,NULL,NULL,NULL),(6343,'UniProt Function',NULL,7702,NULL,'Unknown. The protein may play some role in a cellular membrane location. May reside within an internal membrane compartment and function in pathways such as those involved in protein and/or vesicle trafficking. Alternatively, the mature protein may be localized in the plasma membrane and serve as a site of interaction for other molecules through its highly charged C-terminal domain.',NULL,NULL,NULL,NULL,NULL),(6344,'UniProt Function',NULL,7703,NULL,'Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box.',NULL,NULL,NULL,NULL,NULL),(6345,'UniProt Function',NULL,7704,NULL,'Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its transcription. Involved in the regulation of ITGB1 and ITGB4 expression and cell adhesion and proliferation in epidermal keratinocytes. Binds to E-box2 domain of BSG and activates its expression during TGFB1-induced epithelial-mesenchymal transition (EMT) in hepatocytes. Represses E-Cadherin/CDH1 transcription via E-box elements. Involved in osteoblast maturation. Binds to RUNX2 and SOC9 promoters and may act as a positive and negative transcription regulator, respectively, in osteoblasts. Binds to CXCL12 promoter via E-box regions in mesenchymal stem cells and osteoblasts. Plays an essential role in TWIST1-induced EMT and its ability to promote invasion and metastasis.',NULL,NULL,NULL,NULL,NULL),(6346,'UniProt Function',NULL,7705,NULL,'Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex.',NULL,NULL,NULL,NULL,NULL),(6347,'UniProt Function',NULL,7706,NULL,'May be involved in several stages of intracellular trafficking (By similarity). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)).',NULL,NULL,NULL,NULL,NULL),(6348,'UniProt Function',NULL,7707,NULL,'t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells.',NULL,NULL,NULL,NULL,NULL),(6349,'UniProt Function',NULL,7709,NULL,'Cytokine that binds to TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and possibly also to TNFRSF11B/OPG (PubMed:26457518, PubMed:10549288). Induces apoptosis. Its activity may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and TNFRSF11B/OPG that cannot induce apoptosis.',NULL,NULL,NULL,NULL,NULL),(6350,'UniProt Function',NULL,7711,NULL,'Isoform 1: Functions as transcription repressor, probably via its interaction with histone deacetylase complexes (PubMed:16820529, PubMed:18070604). Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC) to the nucleolus (PubMed:16820529). Binds DNA, apparently without sequence-specificity, and bends bound double-stranded DNA (PubMed:19015240). Binds phosphoinositol phosphates (phosphoinositol 3-phosphate, phosphoinositol 4-phosphate and phosphoinositol 5-phosphate) via the same basic sequence motif that mediates DNA binding and nuclear import (PubMed:19015240, PubMed:26609676).',NULL,NULL,NULL,NULL,NULL),(6351,'UniProt Function',NULL,7711,NULL,'Isoform 2: Functions as transcription repressor; isoform 2 has lower transcription repressor activity than isoform 1 and isoform 3.',NULL,NULL,NULL,NULL,NULL),(6352,'UniProt Function',NULL,7711,NULL,'Isoform 3: Functions as transcription repressor; its activity is marginally lower than that of isoform 1.',NULL,NULL,NULL,NULL,NULL),(6353,'UniProt Function',NULL,7712,NULL,'Cytokine that binds to TNFRSF6/FAS, a receptor that transduces the apoptotic signal into cells (PubMed:26334989, PubMed:9228058). Involved in cytotoxic T-cell-mediated apoptosis, natural killer cell-mediated apoptosis and in T-cell development (PubMed:9228058, PubMed:7528780, PubMed:9427603). Initiates fratricidal/suicidal activation-induced cell death (AICD) in antigen-activated T-cells contributing to the termination of immune responses (By similarity). TNFRSF6/FAS-mediated apoptosis has also a role in the induction of peripheral tolerance (By similarity). Binds to TNFRSF6B/DcR3, a decoy receptor that blocks apoptosis (PubMed:27806260).',NULL,NULL,NULL,NULL,NULL),(6354,'UniProt Function',NULL,7712,NULL,'Tumor necrosis factor ligand superfamily member 6, soluble form: Induces FAS-mediated activation of NF-kappa-B, initiating non-apoptotic signaling pathways (By similarity). Can induce apoptosis but does not appear to be essential for this process (PubMed:27806260).',NULL,NULL,NULL,NULL,NULL),(6355,'UniProt Function',NULL,7712,NULL,'FasL intracellular domain: Cytoplasmic form induces gene transcription inhibition.',NULL,NULL,NULL,NULL,NULL),(6356,'UniProt Function',NULL,7713,NULL,'Cytokine that binds to TNFRSF8/CD30. Induces proliferation of T-cells.',NULL,NULL,NULL,NULL,NULL),(6357,'UniProt Function',NULL,7714,NULL,'Cytokine that binds to TNFRSF9. Induces the proliferation of activated peripheral blood T-cells. May have a role in activation-induced cell death (AICD). May play a role in cognate interactions between T-cells and B-cells/macrophages.',NULL,NULL,NULL,NULL,NULL),(6358,'UniProt Function',NULL,7715,NULL,'May play a role in apoptosis regulation.',NULL,NULL,NULL,NULL,NULL),(6359,'UniProt Function',NULL,7716,NULL,'Promotes progression through the cell cycle via binding and activation of CDK1 and CDK2. Involved in the spindle-assembly checkpoint. Required for recruitment of MAD2L1, BUBR1 and BUB1 to kinetochores. Required for the correct localization of the active form of Aurora B in prometaphase.',NULL,NULL,NULL,NULL,NULL),(6360,'UniProt Function',NULL,7718,NULL,'Binds to zinc finger protein TNFAIP3 and inhibits NF-kappa-B activation induced by tumor necrosis factor, Toll-like receptor 4 (TLR4), interleukin-1 and 12-O-tetradecanoylphorbol-13-acetate. Overexpression inhibits NF-kappa-B-dependent gene expression in response to lipopolysaccharide at a level downstream of TRAF6 and upstream of IKBKB. NF-kappa-B inhibition is independent of TNFAIP3 binding.',NULL,NULL,NULL,NULL,NULL),(6361,'UniProt Function',NULL,7720,NULL,'ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735).',NULL,NULL,NULL,NULL,NULL),(6362,'UniProt Function',NULL,7721,NULL,'Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.',NULL,NULL,NULL,NULL,NULL),(6363,'UniProt Function',NULL,7722,NULL,'Necessary for spliceosome assembly. Overexpression causes apoptosis.',NULL,NULL,NULL,NULL,NULL),(6364,'UniProt Function',NULL,7723,NULL,'Plays a role in DNA double-strand break (DBS) repair via homologous recombination (HR). Serves as a scaffolding protein that helps to promote the recruitment of DNA-processing enzymes like the helicase BLM and recombinase RAD51 to site of DNA damage, and hence contributes to maintain genomic integrity.',NULL,NULL,NULL,NULL,NULL),(6365,'UniProt Function',NULL,7724,NULL,'May play a role as a negative regulatory factor in CD4-dependent T-cell activation.',NULL,NULL,NULL,NULL,NULL),(6366,'UniProt Function',NULL,7725,NULL,'Anchoring protein that binds preferentially to the type I regulatory subunit of c-AMP-dependent protein kinase (PKA type I) and targets it to distinct subcellular compartments. May act as a converging factor linking cAMP and sphingosine signaling pathways. Plays a regulatory role in the modulation of SPHK1.',NULL,NULL,NULL,NULL,NULL),(6367,'UniProt Function',NULL,7727,NULL,'Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs.',NULL,NULL,NULL,NULL,NULL),(6368,'UniProt Function',NULL,7728,NULL,'Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(6369,'UniProt Function',NULL,7729,NULL,'Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, but with relatively low efficiency. Cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes containing homodimeric SPOPL or the heterodimer formed by SPOP and SPOPL are less efficient than ubiquitin ligase complexes containing only SPOP. May function to down-regulate the activity of cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes that contain SPOP.',NULL,NULL,NULL,NULL,NULL),(6370,'UniProt Function',NULL,7730,NULL,'Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death.',NULL,NULL,NULL,NULL,NULL),(6371,'UniProt Function',NULL,7735,NULL,'Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein.',NULL,NULL,NULL,NULL,NULL),(6372,'UniProt Function',NULL,7739,NULL,'TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.',NULL,NULL,NULL,NULL,NULL),(6373,'UniProt Function',NULL,7741,NULL,'Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment of the nucleosome following the passage of RNA polymerase II. The FACT complex is probably also involved in phosphorylation of \'Ser-392\' of p53/TP53 via its association with CK2 (casein kinase II). Binds specifically to double-stranded DNA and at low levels to DNA modified by the antitumor agent cisplatin. May potentiate cisplatin-induced cell death by blocking replication and repair of modified DNA. Also acts as a transcriptional coactivator for p63/TP63.',NULL,NULL,NULL,NULL,NULL),(6374,'UniProt Function',NULL,7742,NULL,'Spindle assembly factor required for normal assembly of mitotic spindles. Required for normal assembly of microtubules during apoptosis. Required for chromatin and/or kinetochore dependent microtubule nucleation. Mediates AURKA localization to spindle microtubules (PubMed:18663142, PubMed:19208764). Activates AURKA by promoting its autophosphorylation at \'Thr-288\' and protects this residue against dephosphorylation (PubMed:18663142, PubMed:19208764). TPX2 is inactivated upon binding to importin-alpha (PubMed:26165940). At the onset of mitosis, GOLGA2 interacts with importin-alpha, liberating TPX2 from importin-alpha, allowing TPX2 to activates AURKA kinase and stimulates local microtubule nucleation (PubMed:26165940).',NULL,NULL,NULL,NULL,NULL),(6375,'UniProt Function',NULL,7743,NULL,'Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:17093495, PubMed:19289083, PubMed:23085020). Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint (PubMed:17093495). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020). In the complex, it mediates the interaction with microtubules (PubMed:19289083, PubMed:23085020).',NULL,NULL,NULL,NULL,NULL),(6376,'UniProt Function',NULL,7745,NULL,'Enzyme catalyzing the degradation of lysoplasmalogen. Lysoplasmalogens are formed by the hydrolysis of the abundant membrane glycerophospholipids plasmalogens. May control the respective levels of plasmalogens and lysoplasmalogens in cells and modulate cell membrane properties.',NULL,NULL,NULL,NULL,NULL),(6377,'UniProt Function',NULL,7747,NULL,'Associates with proteins harboring glycine-rich transmembrane domains and ensures their efficient localization to the cell surface (PubMed:25999474). Regulates the assembly and activity of V-ATPase in colon cancer cells via its interaction with V-type proton ATPase subunit H (ATP6V1H) and contributes to V-ATPase-mediated pH alterations in cancer cells which play an important role in drug resistance and invasiveness of colon cancer cells (PubMed:25659576). Plays an important role in an atypical phagocytic activity of metastatic melanoma cells called cannibalism and is involved in the pH regulation of the intracellular vesicles in tumor cells (PubMed:19893578).',NULL,NULL,NULL,NULL,NULL),(6378,'UniProt Function',NULL,7748,NULL,'Has an antitumor activity (PubMed:8742060). Was found to be a marker of late differentiation of the skin. Implicated in maintaining the physiological and structural integrity of the keratinocyte layers of the skin (PubMed:14721776, PubMed:17008884). In vitro down-regulates keratinocyte proliferation; the function may involve the proposed role as modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-7-dependent nAChR currents in an allosteric manner (PubMed:14506129, PubMed:26905431). In T cells may be involved in regulation of intracellular Ca(2+) signaling (PubMed:17286989). Seems to have a immunomodulatory function in the cornea (By similarity). The function may implicate a possible role as a scavenger receptor for PLAU thereby blocking PLAU-dependent functions of PLAUR such as in cell migration and proliferation (PubMed:25168896).',NULL,NULL,NULL,NULL,NULL),(6379,'UniProt Function',NULL,7750,NULL,'In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5\'-GTCT/AGAC-3\') within BMP response element (BMPRE) of cardiac activating regions (By similarity). Common SMAD (co-SMAD) is the coactivator and mediator of signal transduction by TGF-beta (transforming growth factor). Component of the heterotrimeric SMAD2/SMAD3-SMAD4 complex that forms in the nucleus and is required for the TGF-mediated signaling (PubMed:25514493). Promotes binding of the SMAD2/SMAD4/FAST-1 complex to DNA and provides an activation function required for SMAD1 or SMAD2 to stimulate transcription. Component of the multimeric SMAD3/SMAD4/JUN/FOS complex which forms at the AP1 promoter site; required for synergistic transcriptional activity in response to TGF-beta. May act as a tumor suppressor. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.',NULL,NULL,NULL,NULL,NULL),(6380,'UniProt Function',NULL,7751,NULL,'Plays a role in nonsense-mediated mRNA decay. Does not have RNase activity by itself. Promotes dephosphorylation of UPF1. Together with SMG7 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. Necessary for TERT activity.',NULL,NULL,NULL,NULL,NULL),(6381,'UniProt Function',NULL,7752,NULL,'Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine (PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types. Regulator of cell surface levels of ceramide, an important mediator of signal transduction and apoptosis. Regulation of sphingomyelin (SM) levels at the cell surface affects insulin sensitivity.',NULL,NULL,NULL,NULL,NULL),(6382,'UniProt Function',NULL,7753,NULL,'Inhibits SNARE complex formation by absorbing free syntaxin-1.',NULL,NULL,NULL,NULL,NULL),(6383,'UniProt Function',NULL,7754,NULL,'Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(6384,'UniProt Function',NULL,7755,NULL,'May play a role in hematopoietic cell proliferation or differentiation. Potential mediator of neuronal apoptosis.',NULL,NULL,NULL,NULL,NULL),(6385,'UniProt Function',NULL,7756,NULL,'Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5\' splice-site and the subsequent assembly of the spliceosome. U1 snRNP is the first snRNP to interact with pre-mRNA. This interaction is required for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. SNRPA binds stem loop II of U1 snRNA. In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and polyadenylation process. May bind preferentially to the 5\'-UGCAC-3\' motif on RNAs.',NULL,NULL,NULL,NULL,NULL),(6386,'UniProt Function',NULL,7757,NULL,'Plays a role in mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the spliceosome. May also bind to DNA.',NULL,NULL,NULL,NULL,NULL),(6387,'UniProt Function',NULL,7759,NULL,'Acts as a regulator of the tubular endoplasmic reticulum (ER) network. Suppresses the RTN3/4-induced formation of the ER tubules (PubMed:25612671). Positively regulates PERK-mediated and IRE1-mediated unfolded protein response signaling (PubMed:26268696).',NULL,NULL,NULL,NULL,NULL),(6388,'UniProt Function',NULL,7760,NULL,'Mediates the Na(+)-independent transport of organic anions such as the thyroid hormones T3 (triiodo-L-thyronine), T4 (thyroxine) and rT3, and of estrone-3-sulfate and taurocholate.',NULL,NULL,NULL,NULL,NULL),(6389,'UniProt Function',NULL,7761,NULL,'Regulates cell junction organization in epithelial cells. May play a role in the transition from adherens junction to tight junction assembly. May regulate F-actin polymerization required for tight junctional localization dynamics and affect the junctional localization of PARD6B. During podocyte differentiation may negatively regulate activity of FYN and subsequently the abundance of nephrin (By similarity).',NULL,NULL,NULL,NULL,NULL),(6390,'UniProt Function',NULL,7762,NULL,'Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:16179610). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex (PubMed:17101778). The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Can sense membrane curvature and has in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Required for retrograde endosome-to-TGN transport of TGN38 (PubMed:20138391). Promotes KALRN- and RHOG-dependent but retromer-independent membrane remodeling such as lamellipodium formation; the function is dependent on GEF activity of KALRN (PubMed:20604901).',NULL,NULL,NULL,NULL,NULL),(6391,'UniProt Function',NULL,7765,NULL,'May play a role as a mediator of inflammation and angiogenesis.',NULL,NULL,NULL,NULL,NULL),(6392,'UniProt Function',NULL,7766,NULL,'Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy (PubMed:22664871). Induces osteoclastogenesis by activating multiple signaling pathways in osteoclast precursor cells, chief among which is induction of long lasting oscillations in the intracellular concentration of Ca (2+) resulting in the activation of NFATC1, which translocates to the nucleus and induces osteoclast-specific gene transcription to allow differentiation of osteoclasts. During osteoclast differentiation, in a TMEM64 and ATP2A2-dependent manner induces activation of CREB1 and mitochondrial ROS generation necessary for proper osteoclast generation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6393,'UniProt Function',NULL,7767,NULL,'Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. The SOSS complex associates with single-stranded DNA at DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways.',NULL,NULL,NULL,NULL,NULL),(6394,'UniProt Function',NULL,7769,NULL,'Cytokine that binds to TNFRSF18/AITR/GITR. Regulates T-cell responses. Can function as costimulator and lower the threshold for T-cell activation and T-cell proliferation. Important for interactions between activated T-lymphocytes and endothelial cells. Mediates activation of NF-kappa-B. Triggers increased phosphorylation of STAT1 and up-regulates expression of VCAM1 and ICAM1 (PubMed:23892569). Promotes leukocyte adhesion to endothelial cells (PubMed:23892569). Regulates migration of monocytes from the splenic reservoir to sites of inflammation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6395,'UniProt Function',NULL,7770,NULL,'Calcium-binding protein that modulates excitation-contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels.',NULL,NULL,NULL,NULL,NULL),(6396,'UniProt Function',NULL,7771,NULL,'Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6397,'UniProt Function',NULL,7772,NULL,'Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways.',NULL,NULL,NULL,NULL,NULL),(6398,'UniProt Function',NULL,7773,NULL,'May be involved in the onset of endometrial receptivity for implantation/sensitization for the decidual cell reaction Enhances Wnt signaling and inhibits TGF-beta signaling (By similarity). Directly antagonizes activity of BMP2, BMP4, BMP6 and BMP7 in a dose-dependent manner.',NULL,NULL,NULL,NULL,NULL),(6399,'UniProt Function',NULL,7774,NULL,'Binds specifically to the DNA sequence 5\'-AACAAT-3\'. Activates transcription of COL2A1 and AGC1 in vitro.',NULL,NULL,NULL,NULL,NULL),(6400,'UniProt Function',NULL,7775,NULL,'Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5\'-AACAAT-\'3 or 5\'-AACAAAG-3\'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal looping of the embryonic heart tube. Required for normal development of the definitive gut endoderm. Probable transcriptional activator in the premeiotic germ cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(6401,'UniProt Function',NULL,7776,NULL,'Metabolizes sarcosine, L-pipecolic acid and L-proline.',NULL,NULL,NULL,NULL,NULL),(6402,'UniProt Function',NULL,7777,NULL,'Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. It is mainly secreted by macrophages and can induce cell death of certain tumor cell lines. It is potent pyrogen causing fever by direct action or by stimulation of interleukin-1 secretion and is implicated in the induction of cachexia, Under certain conditions it can stimulate cell proliferation and induce cell differentiation. Impairs regulatory T-cells (Treg) function in individuals with rheumatoid arthritis via FOXP3 dephosphorylation. Upregulates the expression of protein phosphatase 1 (PP1), which dephosphorylates the key \'Ser-418\' residue of FOXP3, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208). Key mediator of cell death in the anticancer action of BCG-stimulated neutrophils in combination with DIABLO/SMAC mimetic in the RT4v6 bladder cancer cell line (PubMed:22517918, PubMed:16829952, PubMed:23396208). Induces insulin resistance in adipocytes via inhibition of insulin-induced IRS1 tyrosine phosphorylation and insulin-induced glucose uptake. Induces GKAP42 protein degradation in adipocytes which is partially responsible for TNF-induced insulin resistance (By similarity).',NULL,NULL,NULL,NULL,NULL),(6403,'UniProt Function',NULL,7777,NULL,'The TNF intracellular domain (ICD) form induces IL12 production in dendritic cells.',NULL,NULL,NULL,NULL,NULL),(6404,'UniProt Function',NULL,7779,NULL,'Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE).',NULL,NULL,NULL,NULL,NULL),(6405,'UniProt Function',NULL,7780,NULL,'Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes.',NULL,NULL,NULL,NULL,NULL),(6406,'UniProt Function',NULL,7781,NULL,'Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body (PubMed:8910577). May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection (PubMed:8910577). May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails (PubMed:24267382).',NULL,NULL,NULL,NULL,NULL),(6407,'UniProt Function',NULL,7783,NULL,'Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment of the nucleosome following the passage of RNA polymerase II. The FACT complex is probably also involved in phosphorylation of \'Ser-392\' of p53/TP53 via its association with CK2 (casein kinase II).',NULL,NULL,NULL,NULL,NULL),(6408,'UniProt Function',NULL,7784,NULL,'Sperm surface zona pellucida binding protein. Helps to bind spermatozoa to the zona pellucida with high affinity. Might function in binding zona pellucida and carbohydrates (By similarity).',NULL,NULL,NULL,NULL,NULL),(6409,'UniProt Function',NULL,7785,NULL,'Transcriptional factor that can act as an activator or repressor depending on isoform and/or post-translational modifications. Binds to GT and GC boxes promoter elements. Competes with SP1 for the GC-box promoters. Weak activator of transcription but can activate a number of genes involved in different processes such as cell-cycle regulation, hormone-induction and house-keeping.',NULL,NULL,NULL,NULL,NULL),(6410,'UniProt Function',NULL,7786,NULL,'Important for structural integrity of the central apparatus in the sperm tail and for flagellar motility.',NULL,NULL,NULL,NULL,NULL),(6411,'UniProt Function',NULL,7787,NULL,'Isoform 2: Negative regulator of amino acid sensing and mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels and amino acids (PubMed:28024296). Negatively regulates mTORC1 activation by inhibiting recruitment of mTORC1 to lysosomes upon stimulation with amino acids: acts by promoting the formation of a tightly bound supercomplex composed of the lysosomal V-ATPase, Ragulator and Rag GTPases, preventing recruitment of mTORC1 (PubMed:28024296). Acts as a regulator of muscle regeneration following injury by regulating mTORC1 activation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6412,'UniProt Function',NULL,7788,NULL,'Plays a role in spermatogenesis by enhancing the binding of CREM isoform tau to its coactivator FHL5 and increasing the FHL5-regulated transcriptional activation of CREM isoform tau (By similarity). Involved in the acrosome reaction and in binding of sperm to the zona pellucida (By similarity). Plays a role in regulation of the cell cycle by controlling progression through the G2/M phase, possibly by delaying the activation of CDK1 which is required for entry into mitosis (PubMed:19548270). May play a role in fertility and microtubule formation through interaction with RANBP9 (PubMed:10500252).',NULL,NULL,NULL,NULL,NULL),(6413,'UniProt Function',NULL,7789,NULL,'Binds to GC box promoters elements and selectively activates mRNA synthesis from genes that contain functional recognition sites.',NULL,NULL,NULL,NULL,NULL),(6414,'UniProt Function',NULL,7792,NULL,'May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity.',NULL,NULL,NULL,NULL,NULL),(6415,'UniProt Function',NULL,7794,NULL,'Required for formation of the sperm connecting piece during spermiogenesis. Sperm connecting piece is essential for linking the developing flagellum to the head during late spermiogenesis. May be involved in myosin-based microfilament transport through interaction with myosin subunits.',NULL,NULL,NULL,NULL,NULL),(6416,'UniProt Function',NULL,7795,NULL,'Has no serine protease inhibitory activity, probably due to mutations in the scaffold impairing conformational change.',NULL,NULL,NULL,NULL,NULL),(6417,'UniProt Function',NULL,7796,NULL,'Involved in negative regulation of cell growth. Has tumor suppressor properties. Plays a negative regulatory role in the Ras-MAPK pathway. May function in signaling pathways utilized broadly during fetal development and more selectively in adult tissues and in cells of the lymphohematopoietic system. Could specifically be involved in phospholipid signal transduction.',NULL,NULL,NULL,NULL,NULL),(6418,'UniProt Function',NULL,7797,NULL,'Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking. Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation (PARsylation) of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation. Also mediates PARsylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination. Mediates PARsylation of TERF1, thereby contributing to the regulation of telomere length. Involved in centrosome maturation during prometaphase by mediating PARsylation of HEPACAM2/MIKI. May also regulate vesicle trafficking and modulate the subcellular distribution of SLC2A4/GLUT4-vesicles. May be involved in spindle pole assembly through PARsylation of NUMA1. Stimulates 26S proteasome activity.',NULL,NULL,NULL,NULL,NULL),(6419,'UniProt Function',NULL,7799,NULL,'Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.',NULL,NULL,NULL,NULL,NULL),(6420,'UniProt Function',NULL,7800,NULL,'Regulator required for centriole duplication, for proper bipolar spindle formation and chromosome congression in mitosis.',NULL,NULL,NULL,NULL,NULL),(6421,'UniProt Function',NULL,7801,NULL,'Phosphorylates MAP kinase p38. Seems to be active only in mitosis. May also play a role in the activation of lymphoid cells. When phosphorylated, forms a complex with TP53, leading to TP53 destabilization and attenuation of G2/M checkpoint during doxorubicin-induced DNA damage.',NULL,NULL,NULL,NULL,NULL),(6422,'UniProt Function',NULL,7802,NULL,'Component of the central pair apparatus of ciliary axonemes. Plays a critical role in the function and structure of motile cilia. May play a role in endochondral bone formation, most likely because of a function in primary cilia of chondrocytes and osteoblasts.',NULL,NULL,NULL,NULL,NULL),(6423,'UniProt Function',NULL,7803,NULL,'Required for proper cytoplasm removal during spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(6424,'UniProt Function',NULL,7805,NULL,'May be involved in the regulation of cell cycle progression (By similarity). Exhibits H3K4me3-binding activity (PubMed:29061846).',NULL,NULL,NULL,NULL,NULL),(6425,'UniProt Function',NULL,7806,NULL,'May play a role in regulating A disintegrin and metalloproteases (ADAMs) in the signaling of EGFR-ligand shedding. May be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1. Plays a role in the regulation of cell morphology and cytoskeletal organization.',NULL,NULL,NULL,NULL,NULL),(6426,'UniProt Function',NULL,7807,NULL,'Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). Can also use N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively.',NULL,NULL,NULL,NULL,NULL),(6427,'UniProt Function',NULL,7808,NULL,'Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, gluconeogenesis and lipogenesis regulation, muscle growth and differentiation and tumor suppression. Phosphorylates HDAC4, HDAC5, PPME1, SREBF1, CRTC1/TORC1. Inhibits CREB activity by phosphorylating and inhibiting activity of TORCs, the CREB-specific coactivators, like CRTC2/TORC2 and CRTC3/TORC3 in response to cAMP signaling (PubMed:29211348). Acts as a tumor suppressor and plays a key role in p53/TP53-dependent anoikis, a type of apoptosis triggered by cell detachment: required for phosphorylation of p53/TP53 in response to loss of adhesion and is able to suppress metastasis. Part of a sodium-sensing signaling network, probably by mediating phosphorylation of PPME1: following increases in intracellular sodium, SIK1 is activated by CaMK1 and phosphorylates PPME1 subunit of protein phosphatase 2A (PP2A), leading to dephosphorylation of sodium/potassium-transporting ATPase ATP1A1 and subsequent increase activity of ATP1A1. Acts as a regulator of muscle cells by phosphorylating and inhibiting class II histone deacetylases HDAC4 and HDAC5, leading to promote expression of MEF2 target genes in myocytes. Also required during cardiomyogenesis by regulating the exit of cardiomyoblasts from the cell cycle via down-regulation of CDKN1C/p57Kip2. Acts as a regulator of hepatic gluconeogenesis by phosphorylating and repressing the CREB-specific coactivators CRTC1/TORC1 and CRTC2/TORC2, leading to inhibit CREB activity. Also regulates hepatic lipogenesis by phosphorylating and inhibiting SREBF1. In concert with CRTC1/TORC1, regulates the light-induced entrainment of the circadian clock by attenuating PER1 induction; represses CREB-mediated transcription of PER1 by phosphorylating and deactivating CRTC1/TORC1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(6428,'UniProt Function',NULL,7811,NULL,'E3 ubiquitin-protein ligase involved in DNA repair. Upon genotoxic stress, accepts ubiquitin from the UBE2N-UBE2V2 E2 complex and transfers it to \'Lys-164\' of PCNA which had been monoubiquitinated by UBE2A/B-RAD18, promoting the formation of non-canonical poly-ubiquitin chains linked through \'Lys-63\'.',NULL,NULL,NULL,NULL,NULL),(6429,'UniProt Function',NULL,7812,NULL,'Phosphorylates \'Ser-794\' of IRS1 in insulin-stimulated adipocytes, potentially modulating the efficiency of insulin signal transduction. Inhibits CREB activity by phosphorylating and repressing TORCs, the CREB-specific coactivators.',NULL,NULL,NULL,NULL,NULL),(6430,'UniProt Function',NULL,7813,NULL,'Immunoglobulin-like cell surface receptor for CD47. Acts as docking protein and induces translocation of PTPN6, PTPN11 and other binding partners from the cytosol to the plasma membrane. Supports adhesion of cerebellar neurons, neurite outgrowth and glial cell attachment. May play a key role in intracellular signaling during synaptogenesis and in synaptic function (By similarity). Involved in the negative regulation of receptor tyrosine kinase-coupled cellular responses induced by cell adhesion, growth factors or insulin. Mediates negative regulation of phagocytosis, mast cell activation and dendritic cell activation. CD47 binding prevents maturation of immature dendritic cells and inhibits cytokine production by mature dendritic cells.',NULL,NULL,NULL,NULL,NULL),(6431,'UniProt Function',NULL,7814,NULL,'Physiological suppressor of IKK-epsilon and TBK1 that plays an inhibitory role in virus- and TLR3-triggered IRF3. Inhibits TLR3-mediated activation of interferon-stimulated response elements (ISRE) and the IFN-beta promoter. May act by disrupting the interactions of IKBKE or TBK1 with TICAM1/TRIF, IRF3 and DDX58/RIG-I. Does not inhibit NF-kappa-B activation pathways.',NULL,NULL,NULL,NULL,NULL),(6432,'UniProt Function',NULL,7821,NULL,'May participate in amyloid-beta-induced apoptosis via its interaction with beta-APP42.',NULL,NULL,NULL,NULL,NULL),(6433,'UniProt Function',NULL,7824,NULL,'Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores.',NULL,NULL,NULL,NULL,NULL),(6434,'UniProt Function',NULL,7825,NULL,'Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. Involved in sperm motility and fertility.',NULL,NULL,NULL,NULL,NULL),(6435,'UniProt Function',NULL,7826,NULL,'NAD-dependent lysine demalonylase, desuccinylase and deglutarylase that specifically removes malonyl, succinyl and glutaryl groups on target proteins (PubMed:21908771, PubMed:22076378, PubMed:24703693, PubMed:29180469). Activates CPS1 and contributes to the regulation of blood ammonia levels during prolonged fasting: acts by mediating desuccinylation and deglutarylation of CPS1, thereby increasing CPS1 activity in response to elevated NAD levels during fasting (PubMed:22076378, PubMed:24703693). Activates SOD1 by mediating its desuccinylation, leading to reduced reactive oxygen species (PubMed:24140062). Activates SHMT2 by mediating its desuccinylation (PubMed:29180469). Modulates ketogenesis through the desuccinylation and activation of HMGCS2 (By similarity). Has weak NAD-dependent protein deacetylase activity; however this activity may not be physiologically relevant in vivo. Can deacetylate cytochrome c (CYCS) and a number of other proteins in vitro such as UOX.',NULL,NULL,NULL,NULL,NULL),(6436,'UniProt Function',NULL,7827,NULL,'Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction.',NULL,NULL,NULL,NULL,NULL),(6437,'UniProt Function',NULL,7828,NULL,'Required for normal development of intervertebral disks.',NULL,NULL,NULL,NULL,NULL),(6438,'UniProt Function',NULL,7829,NULL,'Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content (PubMed:24531328, PubMed:24927523). May function as sterol isomerase (PubMed:25566323).',NULL,NULL,NULL,NULL,NULL),(6439,'UniProt Function',NULL,7831,NULL,'Involved in pH regulation.',NULL,NULL,NULL,NULL,NULL),(6440,'UniProt Function',NULL,7833,NULL,'May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN).',NULL,NULL,NULL,NULL,NULL),(6441,'UniProt Function',NULL,7834,NULL,'Essential component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. In the SCF complex, serves as an adapter that links the F-box protein to CUL1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC) directs ubiquitination of NFKBIB, NFKBIE, ATF4, SMAD3, SMAD4, CDC25A, FBXO5, CEP68 and probably NFKB2 (PubMed:25704143). SCF(SKP2) directs ubiquitination of phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition. SCF(SKP2) directs ubiquitination of ORC1, CDT1, RBL2, ELF4, CDKN1A, RAG2, FOXO1A, and probably MYC and TAL1. SCF(FBXW7) directs ubiquitination of cyclin E, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1. SCF(FBXW2) directs ubiquitination of GCM1. SCF(FBXO32) directs ubiquitination of MYOD1. SCF(FBXO7) directs ubiquitination of BIRC2 and DLGAP5. SCF(FBXO33) directs ubiquitination of YBX1. SCF(FBXO11) directs ubiquitination of BCL6 and DTL but does not seem to direct ubiquitination of TP53. SCF(BTRC) mediates the ubiquitination of NFKBIA at \'Lys-21\' and \'Lys-22\'; the degradation frees the associated NFKB1-RELA dimer to translocate into the nucleus and to activate transcription. SCF(CCNF) directs ubiquitination of CCP110. SCF(FBXL3) and SCF(FBXL21) direct ubiquitination of CRY1 and CRY2. SCF(FBXO9) directs ubiquitination of TTI1 and TELO2. SCF(FBXO10) directs ubiquitination of BCL2.',NULL,NULL,NULL,NULL,NULL),(6442,'UniProt Function',NULL,7835,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating the calcium-dependent release of a repressor complex and the recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by SMARCA4-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves the release of HDAC1 and recruitment of CREBBP. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development, a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. SMARCA4/BAF190A may promote neural stem cell self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural stem cell insensitive to SHH-dependent differentiating cues (By similarity). Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1. Binds via DLX1 to enhancers located in the intergenic region between DLX5 and DLX6 and this binding is stabilized by the long non-coding RNA (lncRNA) Evf2 (By similarity). Binds to RNA in a promiscuous manner (By similarity). Binding to RNAs including lncRNA Evf2 leads to inhibition of SMARCA4 ATPase and chromatin remodeling activities (By similarity).',NULL,NULL,NULL,NULL,NULL),(6443,'UniProt Function',NULL,7838,NULL,'E3 ubiquitin-protein ligase that acts as a negative regulator of BMP signaling pathway. Mediates ubiquitination and degradation of SMAD1 and SMAD5, 2 receptor-regulated SMADs specific for the BMP pathway. Promotes ubiquitination and subsequent proteasomal degradation of TRAF family members and RHOA. Promotes ubiquitination and subsequent proteasomal degradation of MAVS (PubMed:23087404). Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(6444,'UniProt Function',NULL,7840,NULL,'May play a role in regulated exocytosis. In neuronal cells, modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in the formation and/or the maturation of this vesicles. May also play a role in GLUT4 storage and transport to the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(6445,'UniProt Function',NULL,7840,NULL,'(Microbial infection) May play a role in the assembly of cytoplasmic inclusion bodies required for SFTS phlebovirus replication.',NULL,NULL,NULL,NULL,NULL),(6446,'UniProt Function',NULL,7841,NULL,'Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation of serotonin into N-acetylserotonin, the penultimate step in the synthesis of melatonin.',NULL,NULL,NULL,NULL,NULL),(6447,'UniProt Function',NULL,7843,NULL,'Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on the experimental conditions. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs. May contribute to beta-alanine production via aldehyde dehydrogenase conversion of 3-amino-propanal.',NULL,NULL,NULL,NULL,NULL),(6448,'UniProt Function',NULL,7844,NULL,'Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signaled by cytokines, such as TNF-alpha and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through terminating NF-kappa-B activity. Essential component of a ubiquitin-editing protein complex, comprising also RNF11, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. In cooperation with TAX1BP1 promotes disassembly of E2-E3 ubiquitin protein ligase complexes in IL-1R and TNFR-1 pathways; affected are at least E3 ligases TRAF6, TRAF2 and BIRC2, and E2 ubiquitin-conjugating enzymes UBE2N and UBE2D3. In cooperation with TAX1BP1 promotes ubiquitination of UBE2N and proteasomal degradation of UBE2N and UBE2D3. Upon TNF stimulation, deubiquitinates \'Lys-63\'-polyubiquitin chains on RIPK1 and catalyzes the formation of \'Lys-48\'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Deubiquitinates TRAF6 probably acting on \'Lys-63\'-linked polyubiquitin. Upon T-cell receptor (TCR)-mediated T-cell activation, deubiquitinates \'Lys-63\'-polyubiquitin chains on MALT1 thereby mediating disassociation of the CBM (CARD11:BCL10:MALT1) and IKK complexes and preventing sustained IKK activation. Deubiquitinates NEMO/IKBKG; the function is facilitated by TNIP1 and leads to inhibition of NF-kappa-B activation. Upon stimulation by bacterial peptidoglycans, probably deubiquitinates RIPK2. Can also inhibit I-kappa-B-kinase (IKK) through a non-catalytic mechanism which involves polyubiquitin; polyubiquitin promotes association with IKBKG and prevents IKK MAP3K7-mediated phosphorylation. Targets TRAF2 for lysosomal degradation. In vitro able to deubiquitinate \'Lys-11\'-, \'Lys-48\'- and \'Lys-63\' polyubiquitin chains. Inhibitor of programmed cell death. Has a role in the function of the lymphoid system. Required for LPS-induced production of proinflammatory cytokines and IFN beta in LPS-tolerized macrophages.',NULL,NULL,NULL,NULL,NULL),(6449,'UniProt Function',NULL,7845,NULL,'Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.',NULL,NULL,NULL,NULL,NULL),(6450,'UniProt Function',NULL,7846,NULL,'RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5\'-GA[GT]AN[CG][AG]CC-3\'. May indirectly repress hepatitis B virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions. Essential for correct RNA splicing of multiple genes critical for brain development, neuronal migration and metabolism, including TUBG1, FLNA, PNKP, WDR62, PSMD3, PCK2, PFKL, IDH2, and ACY1 (PubMed:27545680).',NULL,NULL,NULL,NULL,NULL),(6451,'UniProt Function',NULL,7847,NULL,'Binds to GT and GC boxes promoters elements. Probable transcriptional activator.',NULL,NULL,NULL,NULL,NULL),(6452,'UniProt Function',NULL,7848,NULL,'Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity).',NULL,NULL,NULL,NULL,NULL),(6453,'UniProt Function',NULL,7851,NULL,'Probable methyltransferase involved in the processing of the 34S pre-rRNA to 18S rRNA and in 40S ribosomal subunit formation.',NULL,NULL,NULL,NULL,NULL),(6454,'UniProt Function',NULL,7852,NULL,'Granzyme B inhibitor.',NULL,NULL,NULL,NULL,NULL),(6455,'UniProt Function',NULL,7853,NULL,'Serine/threonine kinase that acts as an essential activator of the Wnt signaling pathway. Recruited to promoters of Wnt target genes and required to activate their expression. May act by phosphorylating TCF4/TCF7L2. Appears to act upstream of the JUN N-terminal pathway. May play a role in the response to environmental stress. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it may play a role in cytoskeletal rearrangements and regulate cell spreading. Phosphorylates SMAD1 on Thr-322.',NULL,NULL,NULL,NULL,NULL),(6456,'UniProt Function',NULL,7854,NULL,'Tumor suppressor. It blocks the growth, invasion, and metastatic properties of mammary tumors. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.',NULL,NULL,NULL,NULL,NULL),(6457,'UniProt Function',NULL,7855,NULL,'Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-sphingosine and to a lesser extent sphinganine, but not other lipids, such as D,L-threo-dihydrosphingosine, N,N-dimethylsphingosine, diacylglycerol, ceramide, or phosphatidylinositol.',NULL,NULL,NULL,NULL,NULL),(6458,'UniProt Function',NULL,7856,NULL,'Catalyzes a step in lysosomal heparan sulfate degradation.',NULL,NULL,NULL,NULL,NULL),(6459,'UniProt Function',NULL,7858,NULL,'Involved in the differentiation of haploid spermatids.',NULL,NULL,NULL,NULL,NULL),(6460,'UniProt Function',NULL,7859,NULL,'Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase.',NULL,NULL,NULL,NULL,NULL),(6461,'UniProt Function',NULL,7861,NULL,'Play a role in spermiogenesis and fertilization.',NULL,NULL,NULL,NULL,NULL),(6462,'UniProt Function',NULL,7862,NULL,'Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids. ST6GalNAcIII prefers glycolipids to glycoproteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(6463,'UniProt Function',NULL,7864,NULL,'Subunit of the Sin3 deacetylase complex (Sin3/HDAC), this subunit is important for the repression of genes encoding components of the TGF-beta signaling pathway (PubMed:22865885, PubMed:22984288). Core component of a SIN3A complex (composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1) present in embryonic stem (ES) cells. Promotes the stability of SIN3A and its presence on chromatin and is essential for maintaining the potential of ES cells to proliferate rapidly, while ensuring a short G1-phase of the cell cycle, thereby preventing premature lineage priming (By similarity).',NULL,NULL,NULL,NULL,NULL),(6464,'UniProt Function',NULL,7865,NULL,'Plays an essential role in the maturation of presomitic mesoderm cells by individual attenuation of both FGF and WNT signaling.',NULL,NULL,NULL,NULL,NULL),(6465,'UniProt Function',NULL,7867,NULL,'Can induce apoptosis in a caspase-dependent manner and plays a role in p53/TP53-dependent apoptosis.',NULL,NULL,NULL,NULL,NULL),(6466,'UniProt Function',NULL,7868,NULL,'May regulate trafficking and current kinetics of AMPA-type glutamate receptor (AMPAR) at synapses.',NULL,NULL,NULL,NULL,NULL),(6467,'UniProt Function',NULL,7869,NULL,'May function as an adapter protein.',NULL,NULL,NULL,NULL,NULL),(6468,'UniProt Function',NULL,7870,NULL,'Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc.',NULL,NULL,NULL,NULL,NULL),(6469,'UniProt Function',NULL,7872,NULL,'Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds equally to alpha-2,3-linked and alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface.',NULL,NULL,NULL,NULL,NULL),(6470,'UniProt Function',NULL,7873,NULL,'Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto the terminal sialic acid of an acceptor through alpha-2,8-linkages. Is active with alpha-2,3-linked, alpha-2,6-linked and alpha-2,8-linked sialic acid of N-linked oligosaccharides of glycoproteins and glycolipids. Displays preference for substrates with alpha-2,3-linked terminal sialic acid. It can form polysialic acid in vitro directly on alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid.',NULL,NULL,NULL,NULL,NULL),(6471,'UniProt Function',NULL,7874,NULL,'Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells.',NULL,NULL,NULL,NULL,NULL),(6472,'UniProt Function',NULL,7875,NULL,'Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.',NULL,NULL,NULL,NULL,NULL),(6473,'UniProt Function',NULL,7878,NULL,'NAD-dependent protein deacetylase (PubMed:12186850, PubMed:12374852, PubMed:16788062, PubMed:18680753, PubMed:18794531, PubMed:23283301, PubMed:24121500, PubMed:24252090, PubMed:19535340). Activates or deactivates mitochondrial target proteins by deacetylating key lysine residues (PubMed:12186850, PubMed:12374852, PubMed:16788062, PubMed:18680753, PubMed:18794531, PubMed:23283301, PubMed:24121500, PubMed:24252090). Known targets include ACSS1, IDH, GDH, SOD2, PDHA1, LCAD, SDHA and the ATP synthase subunit ATP5PO (PubMed:16788062, PubMed:18680753, PubMed:24121500, PubMed:24252090, PubMed:19535340). Contributes to the regulation of the cellular energy metabolism (PubMed:24252090). Important for regulating tissue-specific ATP levels (PubMed:18794531). In response to metabolic stress, deacetylates transcription factor FOXO3 and recruits FOXO3 and mitochondrial RNA polymerase POLRMT to mtDNA to promote mtDNA transcription (PubMed:23283301).',NULL,NULL,NULL,NULL,NULL),(6474,'UniProt Function',NULL,7879,NULL,'Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 \'Ser-473\' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on \'Thr-308\' by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at \'Ser-422\'. mTORC2 also modulates the phosphorylation of PRKCA on \'Ser-657\'. Within mTORC2, MAPKAP1 is required for complex formation and mTORC2 kinase activity. MAPKAP1 inhibits MAP3K2 by preventing its dimerization and autophosphorylation. Inhibits HRAS and KRAS signaling. Enhances osmotic stress-induced phosphorylation of ATF2 and ATF2-mediated transcription. Involved in ciliogenesis, regulates cilia length through its interaction with CCDC28B independently of mTORC2 complex.',NULL,NULL,NULL,NULL,NULL),(6475,'UniProt Function',NULL,7883,NULL,'Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes. During forebrain development represses WNT1 expression allowing zona limitans intrathalamica formation and thereby ensuring proper anterio-posterior patterning of the diencephalon and formation of the rostral diencephalon. Acts as a direct upstream activator of SHH expression in the rostral diencephalon ventral midline and that in turn SHH maintains its expression. In addition, Six3 activity is required for the formation of the telencephalon. During postnatal stages of brain development is necessary for ependymal cell maturation by promoting the maturation of radial glia into ependymal cells through regulation of neuroblast proliferation and migration. Acts on the proliferation and differentiation of neural progenitor cells through activating transcription of CCND1 AND CCND2. During early lens formation plays a role in lens induction and specification by activating directly PAX6 in the presumptive lens ectoderm. In turn PAX6 activates SIX3 resulting in activation of PDGFRA and CCND1 promoting cell proliferation. Also is required for the neuroretina development by directly suppressing WNT8B expression in the anterior neural plate territory. Its action during retina development and lens morphogenesis is AES and TLE4-dependent manner. Furthermore, during eye development regulates several genes expression. Before and during early lens development represses the CRYGF promoter by binding a SIX repressor element. Directly activates RHO transcription, or cooperates with CRX or NRL. Six3 functions also in the formation of the proximodistal axis of the optic cup, and promotes the formation of optic vesicles-like structures. During pituitary development, acts in parallel or alternatively with HESX1 to control cell proliferation through Wnt/beta-catenin pathway (By similarity). Plays a role in eye development by suppressing WNT1 expression and in dorsal-ventral patterning by repressing BMP signaling pathway.',NULL,NULL,NULL,NULL,NULL),(6476,'UniProt Function',NULL,7884,NULL,'Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a DNA sequence on these target genes and is involved in processes like cell differentiation, cell migration and cell survival. Transactivates gene expression by binding a 5\'-[CAT]A[CT][CT][CTG]GA[GAT]-3\' motif present in the Trex site and a 5\'-TCA[AG][AG]TTNC-3\' motif present in the MEF3 site of the muscle-specific genes enhancer. Acts cooperatively with EYA proteins to transactivate their target genes through interaction and nuclear translocation of EYA protein. Acts synergistically with SIX1 to regulate target genes involved in formation of various organs, including muscle, kidney, gonad, ganglia, olfactory epithelium and cranial skeleton. Plays a role in several important steps of muscle development. Controls the genesis of hypaxial myogenic progenitors in the dermomyotome by transactivating PAX3 and the delamination and migration of the hypaxial precursors from the ventral lip to the limb buds through the transactivation of PAX3, MET and LBX1. Controls myoblast determination by transactivating MYF5, MYOD1 and MYF6. Controls somitic differentiation in myocyte through MYOG transactivation. Plays a role in synaptogenesis and sarcomere organization by participating in myofiber specialization during embryogenesis by activating fast muscle program in the primary myotome resulting in an up-regulation of fast muscle genes, including ATP2A1, MYL1 and TNNT3. Simultaneously, is also able to activate inhibitors of slow muscle genes, such as SOX6, HRASLS, and HDAC4, thereby restricting the activation of the slow muscle genes. During muscle regeneration, negatively regulates differentiation of muscle satellite cells through down-regulation of MYOG expression. During kidney development regulates the early stages of metanephros development and ureteric bud formation through regulation of GDNF, SALL1, PAX8 and PAX2 expression. Plays a role in gonad development by regulating both testis determination and size determination. In gonadal sex determination, transactivates ZFPM2 by binding a MEF3 consensus sequence, resulting in SRY up-regulation. In gonadal size determination, transactivates NR5A1 by binding a MEF3 consensus sequence resulting in gonadal precursor cell formation regulation. During olfactory development mediates the specification and patterning of olfactory placode through fibroblast growth factor and BMP4 signaling pathways and also regulates epithelial cell proliferation during placode formation. Promotes survival of sensory neurons during early trigeminal gangliogenesis. In the developing dorsal root ganglia, up-regulates SLC12A2 transcription. Regulates early thymus/parathyroid organogenesis through regulation of GCM2 and FOXN1 expression. Forms gustatory papillae during development of the tongue. Also plays a role during embryonic cranial skeleton morphogenesis.',NULL,NULL,NULL,NULL,NULL),(6477,'UniProt Function',NULL,7885,NULL,'NAD-dependent protein deacetylase, which deacetylates internal lysines on histone and alpha-tubulin as well as many other proteins such as key transcription factors (PubMed:24177535, PubMed:12620231, PubMed:16648462, PubMed:18249187, PubMed:18332217, PubMed:18995842, PubMed:20587414, PubMed:21081649, PubMed:20543840, PubMed:22014574, PubMed:21726808, PubMed:21949390, PubMed:22771473, PubMed:23468428, PubMed:23908241, PubMed:24940000, PubMed:24769394, PubMed:24681946). Participates in the modulation of multiple and diverse biological processes such as cell cycle control, genomic integrity, microtubule dynamics, cell differentiation, metabolic networks, and autophagy. Plays a major role in the control of cell cycle progression and genomic stability. Functions in the antephase checkpoint preventing precocious mitotic entry in response to microtubule stress agents, and hence allowing proper inheritance of chromosomes. Positively regulates the anaphase promoting complex/cyclosome (APC/C) ubiquitin ligase complex activity by deacetylating CDC20 and FZR1, then allowing progression through mitosis. Associates both with chromatin at transcriptional start sites (TSSs) and enhancers of active genes. Plays a role in cell cycle and chromatin compaction through epigenetic modulation of the regulation of histone H4 \'Lys-20\' methylation (H4K20me1) during early mitosis. Specifically deacetylates histone H4 at \'Lys-16\' (H4K16ac) between the G2/M transition and metaphase enabling H4K20me1 deposition by KMT5A leading to ulterior levels of H4K20me2 and H4K20me3 deposition throughout cell cycle, and mitotic S-phase progression (PubMed:23468428). Deacetylates KMT5A modulating KMT5A chromatin localization during the mitotic stress response (PubMed:23468428). Deacetylates also histone H3 at \'Lys-57\' (H3K56ac) during the mitotic G2/M transition. Upon bacterium Listeria monocytogenes infection, deacetylates \'Lys-18\' of histone H3 in a receptor tyrosine kinase MET- and PI3K/Akt-dependent manner, thereby inhibiting transcriptional activity and promoting late stages of listeria infection (PubMed:23908241). During oocyte meiosis progression, may deacetylate histone H4 at \'Lys-16\' (H4K16ac) and alpha-tubulin, regulating spindle assembly and chromosome alignment by influencing microtubule dynamics and kinetochore function. Deacetylates histone H4 at \'Lys-16\' (H4K16ac) at the VEGFA promoter and thereby contributes to regulate expression of VEGFA, a key regulator of angiogenesis (PubMed:24940000). Deacetylates alpha-tubulin at \'Lys-40\' and hence controls neuronal motility, oligodendroglial cell arbor projection processes and proliferation of non-neuronal cells. Phosphorylation at Ser-368 by a G1/S-specific cyclin E-CDK2 complex inactivates SIRT2-mediated alpha-tubulin deacetylation, negatively regulating cell adhesion, cell migration and neurite outgrowth during neuronal differentiation. Deacetylates PARD3 and participates in the regulation of Schwann cell peripheral myelination formation during early postnatal development and during postinjury remyelination. Involved in several cellular metabolic pathways. Plays a role in the regulation of blood glucose homeostasis by deacetylating and stabilizing phosphoenolpyruvate carboxykinase PCK1 activity in response to low nutrient availability. Acts as a key regulator in the pentose phosphate pathway (PPP) by deacetylating and activating the glucose-6-phosphate G6PD enzyme, and therefore, stimulates the production of cytosolic NADPH to counteract oxidative damage. Maintains energy homeostasis in response to nutrient deprivation as well as energy expenditure by inhibiting adipogenesis and promoting lipolysis. Attenuates adipocyte differentiation by deacetylating and promoting FOXO1 interaction to PPARG and subsequent repression of PPARG-dependent transcriptional activity. Plays a role in the regulation of lysosome-mediated degradation of protein aggregates by autophagy in neuronal cells. Deacetylates FOXO1 in response to oxidative stress or serum deprivation, thereby negatively regulating FOXO1-mediated autophagy (PubMed:20543840). Deacetylates a broad range of transcription factors and co-regulators regulating target gene expression. Deacetylates transcriptional factor FOXO3 stimulating the ubiquitin ligase SCF(SKP2)-mediated FOXO3 ubiquitination and degradation (By similarity). Deacetylates HIF1A and therefore promotes HIF1A degradation and inhibition of HIF1A transcriptional activity in tumor cells in response to hypoxia (PubMed:24681946). Deacetylates RELA in the cytoplasm inhibiting NF-kappaB-dependent transcription activation upon TNF-alpha stimulation. Inhibits transcriptional activation by deacetylating p53/TP53 and EP300 (PubMed:18249187). Deacetylates also EIF5A (PubMed:22771473). Functions as a negative regulator on oxidative stress-tolerance in response to anoxia-reoxygenation conditions. Plays a role as tumor suppressor (PubMed:22014574).',NULL,NULL,NULL,NULL,NULL),(6478,'UniProt Function',NULL,7885,NULL,'Isoform 1: Deacetylates EP300, alpha-tubulin and histone H3 and H4.',NULL,NULL,NULL,NULL,NULL),(6479,'UniProt Function',NULL,7885,NULL,'Isoform 2: Deacetylates EP300, alpha-tubulin and histone H3 and H4.',NULL,NULL,NULL,NULL,NULL),(6480,'UniProt Function',NULL,7885,NULL,'Isoform 5: Lacks deacetylation activity.',NULL,NULL,NULL,NULL,NULL),(6481,'UniProt Function',NULL,7886,NULL,'Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis.',NULL,NULL,NULL,NULL,NULL),(6482,'UniProt Function',NULL,7887,NULL,'In the intracellular compartments, may function as a channel or small molecule transporter.',NULL,NULL,NULL,NULL,NULL),(6483,'UniProt Function',NULL,7888,NULL,'Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway but also in post-Golgi membranes. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED10 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft-like microdomains of the ER. Recognizes GPI anchors structural remodeled in the ER by PGAP1 and MPPE1. In COPI vesicle-mediated retrograde transport inhibits the GTPase-activating activity of ARFGAP1 towards ARF1 thus preventing immature uncoating and allowing cargo selection to take place. Involved in trafficking of G protein-coupled receptors (GPCRs). Regulates F2RL1, OPRM1 and P2RY4 exocytic trafficking from the Golgi to the plasma membrane thus contributing to receptor resensitization. Facilitates CASR maturation and stabilization in the early secretory pathway and increases CASR plasma membrane targeting. Proposed to be involved in organization of intracellular membranes such as the maintenance of the Golgi apparatus. May also play a role in the biosynthesis of secreted cargo such as eventual processing.',NULL,NULL,NULL,NULL,NULL),(6484,'UniProt Function',NULL,7889,NULL,'Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. May act as a tumor suppressor in colorectal carcinoma. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.',NULL,NULL,NULL,NULL,NULL),(6485,'UniProt Function',NULL,7890,NULL,'Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF (CECR2-containing-remodeling factor) complexes. Both complexes facilitate the perturbation of chromatin structure in an ATP-dependent manner. Potentiates neurite outgrowth. May be involved in brain development by regulating En-1 and En-2 expression. May be involved in the development of luteal cells.',NULL,NULL,NULL,NULL,NULL),(6486,'UniProt Function',NULL,7891,NULL,'Transcriptional repressor of HOXB13 gene.',NULL,NULL,NULL,NULL,NULL),(6487,'UniProt Function',NULL,7896,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:22952240, PubMed:26601204). Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (PubMed:28369036).',NULL,NULL,NULL,NULL,NULL),(6488,'UniProt Function',NULL,7898,NULL,'Plays a role in pre-mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the precatalytic spliceosome (PubMed:11350945, PubMed:26912367). Regulates AURKB mRNA levels, and thereby plays a role in cytokinesis and in the spindle checkpoint. Does not have ubiquitin-specific peptidase activity (PubMed:18728397).',NULL,NULL,NULL,NULL,NULL),(6489,'UniProt Function',NULL,7899,NULL,'May be implicated in endosomal trafficking, or microtubule dynamics, or both. Participates in cytokinesis (PubMed:20719964).',NULL,NULL,NULL,NULL,NULL),(6490,'UniProt Function',NULL,7900,NULL,'Cytokine that binds to LTBR/TNFRSF3. May play a specific role in immune response regulation. Provides the membrane anchor for the attachment of the heterotrimeric complex to the cell surface. Isoform 2 is probably non-functional.',NULL,NULL,NULL,NULL,NULL),(6491,'UniProt Function',NULL,7901,NULL,'Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity).',NULL,NULL,NULL,NULL,NULL),(6492,'UniProt Function',NULL,7902,NULL,'Has an important role in epithelial desmosome-mediated cell-cell adhesion.',NULL,NULL,NULL,NULL,NULL),(6493,'UniProt Function',NULL,7903,NULL,'Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis.',NULL,NULL,NULL,NULL,NULL),(6494,'UniProt Function',NULL,7904,NULL,'May act as a papain-like cysteine protease inhibitor to modulate the host immune response against tumor cells. Also functions as an inhibitor of UV-induced apoptosis via suppression of the activity of c-Jun NH(2)-terminal kinase (JNK1).',NULL,NULL,NULL,NULL,NULL),(6495,'UniProt Function',NULL,7906,NULL,'Catalyzes the production of spermidine from putrescine and decarboxylated S-adenosylmethionine (dcSAM). Has a strong preference for putrescine as substrate, and has very low activity towards 1,3-diaminopropane. Has extremely low activity towards spermidine.',NULL,NULL,NULL,NULL,NULL),(6496,'UniProt Function',NULL,7907,NULL,'Required for DNA replication. Plays a role in the rescue of stalled replication forks and checkpoint control. Binds double-stranded DNA breaks and nicks as well as single-stranded DNA. Recruits the SWI/SNF chromatin remodeling complex to E2F1-responsive promoters. Down-regulates E2F1 activity and inhibits E2F1-dependent apoptosis during G1/S transition and after DNA damage. Induces a large increase in the kinase activity of ATR (PubMed:16530042).',NULL,NULL,NULL,NULL,NULL),(6497,'UniProt Function',NULL,7908,NULL,'Binds to the PU-box, a purine-rich DNA sequence (5\'-GAGGAA-3\') that can act as a lymphoid-specific enhancer. This protein is a transcriptional activator that may be specifically involved in the differentiation or activation of macrophages or B-cells. Also binds RNA and may modulate pre-mRNA splicing (By similarity).',NULL,NULL,NULL,NULL,NULL),(6498,'UniProt Function',NULL,7909,NULL,'Involved in the regulation of cell cycle progression, this activity is related to the inhibition of apoptosis following the removal of essential growth factors (PubMed:12145692). Exhibits H3K4me3-binding activity (PubMed:29061846).',NULL,NULL,NULL,NULL,NULL),(6499,'UniProt Function',NULL,7910,NULL,'Could coordinate an aspect of bone turnover.',NULL,NULL,NULL,NULL,NULL),(6500,'UniProt Function',NULL,7912,NULL,'Probable transcriptional regulator that acts via the formation of large multiprotein complexes that modify and/or remodel the chromatin. Acts as a regulator of histone acetylation during gene transcription.',NULL,NULL,NULL,NULL,NULL),(6501,'UniProt Function',NULL,7913,NULL,'May play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity (By similarity).',NULL,NULL,NULL,NULL,NULL),(6502,'UniProt Function',NULL,7914,NULL,'Histone methyltransferase that specifically trimethylates \'Lys-9\' of histone H3. H3 \'Lys-9\' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. H3 \'Lys-9\' trimethylation is coordinated with DNA methylation. Probably forms a complex with MBD1 and ATF7IP that represses transcription and couples DNA methylation and histone \'Lys-9\' trimethylation. Its activity is dependent on MBD1 and is heritably maintained through DNA replication by being recruited by CAF-1. SETDB1 is targeted to histone H3 by TRIM28/TIF1B, a factor recruited by KRAB zinc-finger proteins. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306). The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3\'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (PubMed:27029610).',NULL,NULL,NULL,NULL,NULL),(6503,'UniProt Function',NULL,7915,NULL,'May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex.',NULL,NULL,NULL,NULL,NULL),(6504,'UniProt Function',NULL,7916,NULL,'Critical mediator, in cooperation with CASP4, of endoplasmic reticulum-stress induced apoptosis. Required or the activation of CASP4 following endoplasmic reticulum stress.',NULL,NULL,NULL,NULL,NULL),(6505,'UniProt Function',NULL,7919,NULL,'Involved in trafficking and recycling of synaptic vesicles.',NULL,NULL,NULL,NULL,NULL),(6506,'UniProt Function',NULL,7920,NULL,'Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) (PubMed:29656893, PubMed:29789392). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection (PubMed:29656893, PubMed:29789392). Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres (PubMed:29656893).',NULL,NULL,NULL,NULL,NULL),(6507,'UniProt Function',NULL,7921,NULL,'In vitro binds long double-stranded RNA (dsRNA) (500 and 700 base pairs), but not dsRNA shorter than 300 bp. Not involved in RNA autophagy, a process in which RNA is directly imported into lysosomes in an ATP-dependent manner, and degraded.',NULL,NULL,NULL,NULL,NULL),(6508,'UniProt Function',NULL,7923,NULL,'NAD-dependent protein deacetylase. Has deacetylase activity towards histone H3K9Ac and H3K56Ac. Modulates acetylation of histone H3 in telomeric chromatin during the S-phase of the cell cycle. Deacetylates histone H3K9Ac at NF-kappa-B target promoters and may down-regulate the expression of a subset of NF-kappa-B target genes. Acts as a corepressor of the transcription factor HIF1A to control the expression of multiple glycolytic genes to regulate glucose homeostasis. Required for genomic stability. Regulates the production of TNF protein. Has a role in the regulation of life span (By similarity). Deacetylation of nucleosomes interferes with RELA binding to target DNA. May be required for the association of WRN with telomeres during S-phase and for normal telomere maintenance. Required for genomic stability. Required for normal IGF1 serum levels and normal glucose homeostasis. Modulates cellular senescence and apoptosis. On DNA damage, promotes DNA end resection via deacetylation of RBBP8. Has very weak deacetylase activity and can bind NAD(+) in the absence of acetylated substrate.',NULL,NULL,NULL,NULL,NULL),(6509,'UniProt Function',NULL,7924,NULL,'Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development.',NULL,NULL,NULL,NULL,NULL),(6510,'UniProt Function',NULL,7925,NULL,'RNA-binding protein that acts as a nuclear receptor corepressor. Probably acts by binding the SRA RNA, and repressing the SRA-mediated nuclear receptor coactivation. Binds the STR7 loop of SRA RNA. Also able to repress glucocorticoid (GR), androgen (AR), thyroid (TR) and VDR-mediated transactivation.',NULL,NULL,NULL,NULL,NULL),(6511,'UniProt Function',NULL,7926,NULL,'May play a role in the immune response.',NULL,NULL,NULL,NULL,NULL),(6512,'UniProt Function',NULL,7927,NULL,'Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance (PubMed:25931565). The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks (PubMed:25931565). Promotes the recruitment of SLF2 and the SMC5-SMC6 complex to DNA lesions (PubMed:25931565).',NULL,NULL,NULL,NULL,NULL),(6513,'UniProt Function',NULL,7928,NULL,'Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance (PubMed:25931565). The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks (PubMed:25931565). Promotes the recruitment of the SMC5-SMC6 complex to DNA lesions (PubMed:25931565).',NULL,NULL,NULL,NULL,NULL),(6514,'UniProt Function',NULL,7929,NULL,'Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking and synaptic vesicle recycling. May modulate a step between vesicle priming, fusion and calcium-dependent neurotransmitter release through its ability to potentiate the interaction of synaptotagmin with the SNAREs and the plasma-membrane-associated protein SNAP25. Its phosphorylation state influences exocytotic protein interactions and may regulate synaptic vesicle exocytosis. May also have a role in the mechanisms of SNARE-mediated membrane fusion in non-neuronal cells (PubMed:17182842, PubMed:18167355). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167).',NULL,NULL,NULL,NULL,NULL),(6515,'UniProt Function',NULL,7930,NULL,'Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation.',NULL,NULL,NULL,NULL,NULL),(6516,'UniProt Function',NULL,7931,NULL,'May play a role in protection or detoxification.',NULL,NULL,NULL,NULL,NULL),(6517,'UniProt Function',NULL,7933,NULL,'Likely involved in U12-type 5\' splice site recognition.',NULL,NULL,NULL,NULL,NULL),(6518,'UniProt Function',NULL,7934,NULL,'Transcription repressor. Sequence-specific ssDNA and dsDNA binding protein, with preference for GCT end CTG repeats. Cell migration modulator which enhances the glioma-specific migration ability of neural stem cells (NSC) and neural precursor cells (NPC).',NULL,NULL,NULL,NULL,NULL),(6519,'UniProt Function',NULL,7935,NULL,'May be involved in several stages of intracellular trafficking. May play a role in intracellular protein transport from early endosomes to the trans-Golgi network.',NULL,NULL,NULL,NULL,NULL),(6520,'UniProt Function',NULL,7936,NULL,'May be involved in protein trafficking.',NULL,NULL,NULL,NULL,NULL),(6521,'UniProt Function',NULL,7937,NULL,'SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. Substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits EGF signaling by mediating the degradation of the Tyr-phosphorylated EGF receptor/EGFR.',NULL,NULL,NULL,NULL,NULL),(6522,'UniProt Function',NULL,7938,NULL,'Implicated in development of the cochlea.',NULL,NULL,NULL,NULL,NULL),(6523,'UniProt Function',NULL,7939,NULL,'Likely to be a multifunctional endocytic receptor, that may be implicated in the uptake of lipoproteins and of proteases. Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. Binds the receptor-associated protein (RAP). Could play a role in cell-cell interaction. Involved in APP trafficking to and from the Golgi apparatus. It probably acts as a sorting receptor that protects APP from trafficking to late endosome and from processing into amyloid beta, thereby reducing the burden of amyloidogenic peptide formation. Involved in the regulation of smooth muscle cells migration, probably through PLAUR binding and decreased internalization.',NULL,NULL,NULL,NULL,NULL),(6524,'UniProt Function',NULL,7940,NULL,'Receptor for TNFRSF25 and TNFRSF6B. Mediates activation of NF-kappa-B. Inhibits vascular endothelial growth and angiogenesis (in vitro). Promotes activation of caspases and apoptosis.',NULL,NULL,NULL,NULL,NULL),(6525,'UniProt Function',NULL,7941,NULL,'Transcriptional factor involved in the embryonic neurogenesis. May also have a role in tissue modeling during development.',NULL,NULL,NULL,NULL,NULL),(6526,'UniProt Function',NULL,7942,NULL,'Binds to the sequence 5\'-AACAAT-3\'.',NULL,NULL,NULL,NULL,NULL),(6527,'UniProt Function',NULL,7943,NULL,'Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways.',NULL,NULL,NULL,NULL,NULL),(6528,'UniProt Function',NULL,7944,NULL,'Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(6529,'UniProt Function',NULL,7945,NULL,'Acts as a negative regulator of transcription.',NULL,NULL,NULL,NULL,NULL),(6530,'UniProt Function',NULL,7946,NULL,'Decoy receptor that can neutralize the cytotoxic ligands TNFS14/LIGHT, TNFSF15 and TNFSF6/FASL. Protects against apoptosis.',NULL,NULL,NULL,NULL,NULL),(6531,'UniProt Function',NULL,7947,NULL,'Binds to the consensus sequence 5\'-AACAAAG-3\' and is able to trans-activate transcription via this site.',NULL,NULL,NULL,NULL,NULL),(6532,'UniProt Function',NULL,7948,NULL,'Transcriptional activator. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6533,'UniProt Function',NULL,7949,NULL,'Transcriptional regulator that plays a role in chondrocytes differentiation and skeletal development (PubMed:24038782). Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219 (By similarity).',NULL,NULL,NULL,NULL,NULL),(6534,'UniProt Function',NULL,7951,NULL,'Required for MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) activation during gastrulation. Required for down-regulation of E-cadherin during gastrulation by regulating E-cadherin protein level downstream from NCK-interacting kinase (NIK) and independently of the regulation of transcription by FGF signaling and Snail (By similarity). Required for starvation-induced ATG9A trafficking during autophagy.',NULL,NULL,NULL,NULL,NULL),(6535,'UniProt Function',NULL,7952,NULL,'Adipokine that modulates insulin action by specifically inhibiting its target protease KLK7 in white adipose tissues.',NULL,NULL,NULL,NULL,NULL),(6536,'UniProt Function',NULL,7953,NULL,'Involved in spermatogenesis. Required for sperm head formation but not required to establish and maintain general polarity of the sperm head. Required for anchoring and organization of the manchette. Required for targeting of SUN3 and probably SYNE1 through a probable SUN1:SYNE3 LINC complex to the nuclear envelope and involved in accurate posterior sperm head localization of the complex. May anchor SUN3 the nuclear envelope. Involved in maintenance of the nuclear envelope integrity. May assist the organization and assembly of outer dense fibers (ODFs), a specific structure of the sperm tail.',NULL,NULL,NULL,NULL,NULL),(6537,'UniProt Function',NULL,7954,NULL,'Essential component of the mitotic spindle required for normal chromosome segregation and progression into anaphase (PubMed:11724960, PubMed:12356910, PubMed:27462074). Required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:17664331, PubMed:27462074). In complex with SKAP, promotes stable microtubule-kinetochore attachments. May contribute to the regulation of separase activity. May regulate AURKA localization to mitotic spindle, but not to centrosomes and CCNB1 localization to both mitotic spindle and centrosomes (PubMed:18361916, PubMed:21402792). Involved in centriole duplication. Required for CDK5RAP2, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806). In non-mitotic cells, upon stress induction, inhibits mammalian target of rapamycin complex 1 (mTORC1) association and recruits the mTORC1 component RPTOR to stress granules (SGs), thereby preventing mTORC1 hyperactivation-induced apoptosis (PubMed:23953116). May enhance GSK3B-mediated phosphorylation of other substrates, such as MAPT/TAU (PubMed:18055457).',NULL,NULL,NULL,NULL,NULL),(6538,'UniProt Function',NULL,7956,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Required for the coactivation of estrogen responsive promoters by SWI/SNF complexes and the SRC/p160 family of histone acetyltransferases (HATs). Also specifically interacts with the CoREST corepressor resulting in repression of neuronal specific gene promoters in non-neuronal cells.',NULL,NULL,NULL,NULL,NULL),(6539,'UniProt Function',NULL,7959,NULL,'Plays a role in nonsense-mediated mRNA decay. Recruits UPF1 to cytoplasmic mRNA decay bodies. Together with SMG5 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation.',NULL,NULL,NULL,NULL,NULL),(6540,'UniProt Function',NULL,7960,NULL,'Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity.',NULL,NULL,NULL,NULL,NULL),(6541,'UniProt Function',NULL,7961,NULL,'Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.',NULL,NULL,NULL,NULL,NULL),(6542,'UniProt Function',NULL,7962,NULL,'Methylates histone H3 at \'Lys-4\' (H3K4me), seems able to perform both mono-, di-, and trimethylation. Acts as a transcriptional repressor. Essential for cardiomyocyte differentiation and cardiac morphogenesis.',NULL,NULL,NULL,NULL,NULL),(6543,'UniProt Function',NULL,7963,NULL,'Plays a role in the regulation of chondrocyte maturation and postnatal endochondral ossification. May inhibit cell growth stimulation induced by FGF2.',NULL,NULL,NULL,NULL,NULL),(6544,'UniProt Function',NULL,7964,NULL,'Isoform 1: Plays a suppressive role in osteosarcoma malignancy by inhibiting NF-kappa-B activity (PubMed:27886186).',NULL,NULL,NULL,NULL,NULL),(6545,'UniProt Function',NULL,7965,NULL,'Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor-regulated SMAD (R-SMAD).',NULL,NULL,NULL,NULL,NULL),(6546,'UniProt Function',NULL,7966,NULL,'Histone methyltransferase. Specifically methylates \'Lys-4\' of histone H3, inducing di- and tri-methylation, but not monomethylation (PubMed:15235609, PubMed:22419068). Also methylates \'Lys-5\' of histone H4 (PubMed:22419068). Plays an important role in transcriptional activation as a member of an RNA polymerase complex (PubMed:15235609). Binds DNA containing 5\'-CCCTCC-3\' or 5\'-GAGGGG-3\' sequences (PubMed:15235609).',NULL,NULL,NULL,NULL,NULL),(6547,'UniProt Function',NULL,7968,NULL,'May be involved in several stages of intracellular trafficking.',NULL,NULL,NULL,NULL,NULL),(6548,'UniProt Function',NULL,7969,NULL,'Mediates the Na(+)-independent uptake of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. Involved in the clearance of bile acids and organic anions from the liver.',NULL,NULL,NULL,NULL,NULL),(6549,'UniProt Function',NULL,7971,NULL,'May mediate the release of newly synthesized prostaglandins from cells, the transepithelial transport of prostaglandins, and the clearance of prostaglandins from the circulation. Transports PGD2, as well as PGE1, PGE2 and PGF2A.',NULL,NULL,NULL,NULL,NULL),(6550,'UniProt Function',NULL,7973,NULL,'Mediates the Na(+)-independent transport of organic anions such as estrone-3-sulfate (PubMed:10873595). Mediates transport of prostaglandins (PG) E1 and E2, thyroxine (T4), deltorphin II, BQ-123 and vasopressin, but not DPDPE (a derivative of enkephalin lacking an N-terminal tyrosine residue), estrone-3-sulfate, taurocholate, digoxin nor DHEAS (PubMed:16971491).',NULL,NULL,NULL,NULL,NULL),(6551,'UniProt Function',NULL,7974,NULL,'May be involved in several stages of intracellular trafficking.',NULL,NULL,NULL,NULL,NULL),(6552,'UniProt Function',NULL,7975,NULL,'SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS2 appears to be a negative regulator in the growth hormone/IGF1 signaling pathway. Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(6553,'UniProt Function',NULL,7977,NULL,'SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS3 is involved in negative regulation of cytokines that signal through the JAK/STAT pathway. Inhibits cytokine signal transduction by binding to tyrosine kinase receptors including gp130, LIF, erythropoietin, insulin, IL12, GCSF and leptin receptors. Binding to JAK2 inhibits its kinase activity. Suppresses fetal liver erythropoiesis. Regulates onset and maintenance of allergic responses mediated by T-helper type 2 cells. Regulates IL-6 signaling in vivo (By similarity). Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Seems to recognize IL6ST (By similarity).',NULL,NULL,NULL,NULL,NULL),(6554,'UniProt Function',NULL,7978,NULL,'Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase. May provide cholesteryl esters for lipoprotein secretion from hepatocytes and intestinal mucosa.',NULL,NULL,NULL,NULL,NULL),(6555,'UniProt Function',NULL,7979,NULL,'Plays a role in the reorganization of the cytoskeleton, endocytosis and cellular vesicle trafficking via its interactions with membranes, WASL, DNM1 and DNM2. Acts both during interphase and at the end of mitotic cell divisions. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Modulates endocytosis of cell-surface proteins, such as APP and PRNP; this then modulates the secretion of APP and PRNP peptides. Promotes membrane tubulation (in vitro). May promote the formation of macropinosomes.',NULL,NULL,NULL,NULL,NULL),(6556,'UniProt Function',NULL,7981,NULL,'SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). Regulates KIT degradation by ubiquitination of the tyrosine-phosphorylated receptor.',NULL,NULL,NULL,NULL,NULL),(6557,'UniProt Function',NULL,7984,NULL,'Involved in biogenesis of mitochondrial ATP synthase.',NULL,NULL,NULL,NULL,NULL),(6558,'UniProt Function',NULL,7985,NULL,'Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity).',NULL,NULL,NULL,NULL,NULL),(6559,'UniProt Function',NULL,7986,NULL,'Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity).',NULL,NULL,NULL,NULL,NULL),(6560,'UniProt Function',NULL,7987,NULL,'Binds to FN14 and possibly also to TNRFSF12/APO3. Weak inducer of apoptosis in some cell types. Mediates NF-kappa-B activation. Promotes angiogenesis and the proliferation of endothelial cells. Also involved in induction of inflammatory cytokines. Promotes IL8 secretion.',NULL,NULL,NULL,NULL,NULL),(6561,'UniProt Function',NULL,7988,NULL,'Cytokine that binds to TNFRSF13B/TACI and to TNFRSF17/BCMA. Plays a role in the regulation of tumor cell growth. May be involved in monocyte/macrophage-mediated immunological processes.',NULL,NULL,NULL,NULL,NULL),(6562,'UniProt Function',NULL,7989,NULL,'Cytokine that binds to TNFRSF3/LTBR. Binding to the decoy receptor TNFRSF6B modulates its effects. Activates NFKB, stimulates the proliferation of T-cells, and inhibits growth of the adenocarcinoma HT-29. Acts as a receptor for Herpes simplex virus.',NULL,NULL,NULL,NULL,NULL),(6563,'UniProt Function',NULL,7991,NULL,'Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 in response to EGF (PubMed:17339331). Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(6564,'UniProt Function',NULL,7992,NULL,'Transcription factor that can activate or repress transcription in response to physiological and pathological stimuli. Binds with high affinity to GC-rich motifs and regulates the expression of a large number of genes involved in a variety of processes such as cell growth, apoptosis, differentiation and immune responses. Highly regulated by post-translational modifications (phosphorylations, sumoylation, proteolytic cleavage, glycosylation and acetylation). Binds also the PDGFR-alpha G-box promoter. May have a role in modulating the cellular response to DNA damage. Implicated in chromatin remodeling. Plays an essential role in the regulation of FE65 gene expression. In complex with ATF7IP, maintains telomerase activity in cancer cells by inducing TERT and TERC gene expression. Isoform 3 is a stronger activator of transcription than isoform 1. Positively regulates the transcription of the core clock component ARNTL/BMAL1 (PubMed:10391891, PubMed:11371615, PubMed:11904305, PubMed:14593115, PubMed:16377629, PubMed:16478997, PubMed:16943418, PubMed:17049555, PubMed:18171990, PubMed:18199680, PubMed:18239466, PubMed:18513490, PubMed:18619531, PubMed:19193796, PubMed:20091743, PubMed:21798247). Plays a role in the recruitment of SMARCA4/BRG1 on the c-FOS promoter. Plays a role in protecting cells against oxidative stress following brain injury by regulating the expression of RNF112 (By similarity).',NULL,NULL,NULL,NULL,NULL),(6565,'UniProt Function',NULL,7993,NULL,'Cytokine that in its homotrimeric form binds to TNFRSF1A/TNFR1, TNFRSF1B/TNFBR and TNFRSF14/HVEM. In its heterotrimeric form with LTB binds to TNFRSF3/LTBR. Lymphotoxin is produced by lymphocytes and cytotoxic for a wide range of tumor cells in vitro and in vivo.',NULL,NULL,NULL,NULL,NULL),(6566,'UniProt Function',NULL,7994,NULL,'Transcriptional activator essential for osteoblast differentiation (PubMed:23457570). Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences (By similarity).',NULL,NULL,NULL,NULL,NULL),(6567,'UniProt Function',NULL,7994,NULL,'Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences.',NULL,NULL,NULL,NULL,NULL),(6568,'UniProt Function',NULL,7996,NULL,'Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin.',NULL,NULL,NULL,NULL,NULL),(6569,'UniProt Function',NULL,7998,NULL,'Involved in photoreceptor cells maintenance (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as protein trafficking across the CC to the outer segments (By similarity).',NULL,NULL,NULL,NULL,NULL),(6570,'UniProt Function',NULL,8000,NULL,'Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6571,'UniProt Function',NULL,8004,NULL,'May function as an androgen-independent transactivator of the prostate-specific antigen (PSA) promoter. Binds to 5\'-GGAT-3\' DNA sequences. May play a role in the regulation of the prostate gland and/or prostate cancer development. Acts as a transcriptional activator for SERPINB5 promoter.',NULL,NULL,NULL,NULL,NULL),(6572,'UniProt Function',NULL,8005,NULL,'Inhibits NF-kappa-B activation by blocking the interaction of RIPK1 with its downstream effector NEMO/IKBKG. Forms a ternary complex with NFKB1 and MAP3K8 but appears to function upstream of MAP3K8 in the TLR4 signaling pathway that regulates MAP3K8 activation. Involved in activation of the MEK/ERK signaling pathway during innate immune response; this function seems to be stimulus- and cell type specific. Required for stability of MAP3K8. Involved in regulation of apoptosis in endothelial cells; promotes TEK agonist-stimulated endothelial survival. May act as transcriptional coactivator when translocated to the nucleus. Enhances CHUK-mediated NF-kappa-B activation involving NF-kappa-B p50-p65 and p50-c-Rel complexes.',NULL,NULL,NULL,NULL,NULL),(6573,'UniProt Function',NULL,8006,NULL,'Sequence specific transcriptional activator which binds to the PU-box, a purine-rich DNA sequence (5\'-GAGGAA-3\') that can act as a lymphoid-specific enhancer. Promotes development of plasmacytoid dendritic cells (pDCs), also known as type 2 DC precursors (pre-DC2) or natural interferon (IFN)-producing cells. These cells have the capacity to produce large amounts of interferon and block viral replication. May be required for B-cell receptor (BCR) signaling, which is necessary for normal B-cell development and antigenic stimulation.',NULL,NULL,NULL,NULL,NULL),(6574,'UniProt Function',NULL,8007,NULL,'Necessary for sperm flagellar function. Plays a role in motile ciliogenesis. May help to recruit STK36 to the cilium or apical surface of the cell to initiate subsequent steps of construction of the central pair apparatus of motile cilia (By similarity).',NULL,NULL,NULL,NULL,NULL),(6575,'UniProt Function',NULL,8008,NULL,'Controls the development of red pulp macrophages required for red blood cells recycling and iron homeostasis. Transcription factor that binds to the PU-box, a purine-rich DNA sequence (5\'-GAGGA[AT]-3\') that can act as a lymphoid-specific enhancer. Regulates VCAM1 gene expression (By similarity).',NULL,NULL,NULL,NULL,NULL),(6576,'UniProt Function',NULL,8009,NULL,'Important for normal spermatogenesis and male fertility. Specifically required for progression to the post-meiotic stages of spermatocyte development. Seems to be necessary for normal expression levels of a number of testis-expressed gene transcripts, although its role in this process is unclear.',NULL,NULL,NULL,NULL,NULL),(6577,'UniProt Function',NULL,8011,NULL,'May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.',NULL,NULL,NULL,NULL,NULL),(6578,'UniProt Function',NULL,8012,NULL,'Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Plays a central role in regulation of PI3K-dependent insulin signaling, although the precise molecular mechanisms and signaling pathways remain unclear. While overexpression reduces both insulin-stimulated MAP kinase and Akt activation, its absence does not affect insulin signaling or GLUT4 trafficking. Confers resistance to dietary obesity. May act by regulating AKT2, but not AKT1, phosphorylation at the plasma membrane. Part of a signaling pathway that regulates actin cytoskeleton remodeling. Required for the maintenance and dynamic remodeling of actin structures as well as in endocytosis, having a major impact on ligand-induced EGFR internalization and degradation. Participates in regulation of cortical and submembraneous actin by hydrolyzing PtdIns(3,4,5)P3 thereby regulating membrane ruffling (PubMed:21624956). Regulates cell adhesion and cell spreading. Required for HGF-mediated lamellipodium formation, cell scattering and spreading. Acts as a negative regulator of EPHA2 receptor endocytosis by inhibiting via PI3K-dependent Rac1 activation. Acts as a regulator of neuritogenesis by regulating PtdIns(3,4,5)P3 level and is required to form an initial protrusive pattern, and later, maintain proper neurite outgrowth. Acts as a negative regulator of the FC-gamma-RIIA receptor (FCGR2A). Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Involved in EGF signaling pathway. Upon stimulation by EGF, it is recruited by EGFR and dephosphorylates PtdIns(3,4,5)P3. Plays a negative role in regulating the PI3K-PKB pathway, possibly by inhibiting PKB activity. Down-regulates Fc-gamma-R-mediated phagocytosis in macrophages independently of INPP5D/SHIP1. In macrophages, down-regulates NF-kappa-B-dependent gene transcription by regulating macrophage colony-stimulating factor (M-CSF)-induced signaling. May also hydrolyze PtdIns(1,3,4,5)P4, and could thus affect the levels of the higher inositol polyphosphates like InsP6. Involved in endochondral ossification.',NULL,NULL,NULL,NULL,NULL),(6579,'UniProt Function',NULL,8013,NULL,'Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity).',NULL,NULL,NULL,NULL,NULL),(6580,'UniProt Function',NULL,8015,NULL,'Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction.',NULL,NULL,NULL,NULL,NULL),(6581,'UniProt Function',NULL,8023,NULL,'Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:19289083, PubMed:19360002, PubMed:23085020). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083, PubMed:19360002). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:19289083). In the complex, it mediates the microtubule-stimulated oligomerization (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020).',NULL,NULL,NULL,NULL,NULL),(6582,'UniProt Function',NULL,8024,NULL,'Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:17093495, PubMed:19289083, PubMed:23085020). Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint (PubMed:17093495). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:17093495, PubMed:19289083). In the complex, it is required for SKA1 localization (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020).',NULL,NULL,NULL,NULL,NULL),(6583,'UniProt Function',NULL,8025,NULL,'Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient (PubMed:26358773). Plays an important role in signal transduction.',NULL,NULL,NULL,NULL,NULL),(6584,'UniProt Function',NULL,8026,NULL,'Thought to act as molecular guidance cue in cellular migration, and function appears to be mediated by interaction with roundabout homolog receptors. During neural development involved in axonal navigation at the ventral midline of the neural tube and projection of axons to different regions (By similarity). SLIT1 and SLIT2 together seem to be essential for midline guidance in the forebrain by acting as repulsive signal preventing inappropriate midline crossing by axons projecting from the olfactory bulb.',NULL,NULL,NULL,NULL,NULL),(6585,'UniProt Function',NULL,8028,NULL,'Microtubule plus-end tracking protein that might be involved in the regulation of cytoplasmic microtubule dynamics, microtubule organization and microtubule elongation.',NULL,NULL,NULL,NULL,NULL),(6586,'UniProt Function',NULL,8029,NULL,'When overexpressed, acts as a general inhibitor of transcription that eventually leads to apoptosis.',NULL,NULL,NULL,NULL,NULL),(6587,'UniProt Function',NULL,8030,NULL,'Protein SLFN14: Shows no ribosome-associated and endoribonuclease activities.',NULL,NULL,NULL,NULL,NULL),(6588,'UniProt Function',NULL,8030,NULL,'C-terminally truncated SLFN14 endoribonuclease: Displays polysome-associated endoribonuclease activity towards mRNAs and rRNAs (PubMed:25996083). May play a role in RNA surveillance pathways by recognizing stalled ribosomes and triggering endonucleolytic cleavage of aberrant mRNAs (Probable). Cleaves different types of rRNAs and mRNAs in a magnesium- and manganese-dependent and ATP-independent manner (By similarity). Involved in correct maturation of megakaryocytes and especially important for proplatelet extension.',NULL,NULL,NULL,NULL,NULL),(6589,'UniProt Function',NULL,8031,NULL,'Participates in the second catalytic step of pre-mRNA splicing, when the free hydroxyl group of exon I attacks the 3\'-splice site to generate spliced mRNA and the excised lariat intron. Required for holding exon 1 properly in the spliceosome and for correct AG identification when more than one possible AG exists in 3\'-splicing site region. May be involved in the activation of proximal AG. Probably also involved in alternative splicing regulation.',NULL,NULL,NULL,NULL,NULL),(6590,'UniProt Function',NULL,8032,NULL,'Regulator of neurite outgrowth required for normal hearing and vision.',NULL,NULL,NULL,NULL,NULL),(6591,'UniProt Function',NULL,8033,NULL,'Potential role in vesicular protein trafficking, mainly in the early secretory pathway. May act as a cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and may be involved in vesicle coat formation at the cytoplasmic side.',NULL,NULL,NULL,NULL,NULL),(6592,'UniProt Function',NULL,8034,NULL,'GTPase activating protein that acts on ARF6. Plays a role in clathrin-dependent endocytosis. May play a role in erythropoiesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(6593,'UniProt Function',NULL,8035,NULL,'Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. SMC5-SMC6 complex may prevent transcription of episomal DNA, such as circular viral DNA genome (PubMed:26983541).',NULL,NULL,NULL,NULL,NULL),(6594,'UniProt Function',NULL,8036,NULL,'Histone-binding protein, which is part of various corepressor complexes. Mediates the recruitment of corepressor complexes to target genes, followed by chromatin compaction and repression of transcription. Plays a role during myogenesis: required for the maintenance of undifferentiated states of myogenic progenitor cells via interaction with MYOD1. Interaction with MYOD1 leads to the recruitment of associated corepressors and silencing of MYOD1 target genes. Part of the SLC complex in germ cells, where it may play a role during spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(6595,'UniProt Function',NULL,8038,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. May stimulate the ATPase activity of the catalytic subunit of the complex (PubMed:10078207, PubMed:29374058). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(6596,'UniProt Function',NULL,8039,NULL,'Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at \'Tyr-142\', and is involved in the maintenance of chromatin structures during DNA replication processes. Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing.',NULL,NULL,NULL,NULL,NULL),(6597,'UniProt Function',NULL,8040,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:11018012). Can stimulate the ATPase activity of the catalytic subunit of these complexes (PubMed:10078207). May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells (PubMed:12192000). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6598,'UniProt Function',NULL,8041,NULL,'May play a role in regulated exocytosis. Modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in synaptic-like microvesicle formation and/or maturation (By similarity). Involved in the regulation of short-term and long-term synaptic plasticity (By similarity).',NULL,NULL,NULL,NULL,NULL),(6599,'UniProt Function',NULL,8042,NULL,'Structural protein of the cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(6600,'UniProt Function',NULL,8044,NULL,'May control axon guidance across the CNS (PubMed:28859078). Prevents the delivery of ROBO1 at the cell surface and downregulates its expression (PubMed:28859078).',NULL,NULL,NULL,NULL,NULL),(6601,'UniProt Function',NULL,8045,NULL,'Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs (PubMed:28546213, PubMed:18453631). As part of its function in miRNA decay, regulates mRNAs involved in G1-to-S phase transition (PubMed:28546213). Functions as a bridging factor between STAT6 and the basal transcription factor (PubMed:12234934). Plays a role in PIM1 regulation of MYB activity (PubMed:9809063). Functions as a transcriptional coactivator for STAT5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(6602,'UniProt Function',NULL,8045,NULL,'(Microbial infection) Functions as a transcriptional coactivator for the Epstein-Barr virus nuclear antigen 2 (EBNA2).',NULL,NULL,NULL,NULL,NULL),(6603,'UniProt Function',NULL,8046,NULL,'Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity).',NULL,NULL,NULL,NULL,NULL),(6604,'UniProt Function',NULL,8047,NULL,'May be a component of the linker structure that bridges the ciliary membrane and peripheral singlet microtubules.',NULL,NULL,NULL,NULL,NULL),(6605,'UniProt Function',NULL,8048,NULL,'Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation.',NULL,NULL,NULL,NULL,NULL),(6606,'UniProt Function',NULL,8049,NULL,'Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML) (PubMed:11431483, PubMed:23092983).',NULL,NULL,NULL,NULL,NULL),(6607,'UniProt Function',NULL,8050,NULL,'Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.',NULL,NULL,NULL,NULL,NULL),(6608,'UniProt Function',NULL,8051,NULL,'SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Plays also a role in ciliogenesis by regulating membrane fusions.',NULL,NULL,NULL,NULL,NULL),(6609,'UniProt Function',NULL,8052,NULL,'May be involved in several stages of intracellular trafficking. Overexpression of SNX15 disrupts the normal trafficking of proteins from the plasma membrane to recycling endosomes or the TGN.',NULL,NULL,NULL,NULL,NULL),(6610,'UniProt Function',NULL,8053,NULL,'Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems.',NULL,NULL,NULL,NULL,NULL),(6611,'UniProt Function',NULL,8054,NULL,'Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation.',NULL,NULL,NULL,NULL,NULL),(6612,'UniProt Function',NULL,8056,NULL,'Promotes the exchange of Ras-bound GDP by GTP.',NULL,NULL,NULL,NULL,NULL),(6613,'UniProt Function',NULL,8057,NULL,'Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5\'-AACAAAG-3\' motif.',NULL,NULL,NULL,NULL,NULL),(6614,'UniProt Function',NULL,8059,NULL,'Binds DNA with high affinity but does not bind to TATA boxes. Synergises with GMNN and TBP in activation of TATA box-containing promoters and with GMNN and TBPL1 in activation of the NF1 TATA-less promoter. May play a role in cytoplasm movement and removal during spermiogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(6615,'UniProt Function',NULL,8060,NULL,'Binds to GC boxes promoters elements. Probable transcriptional activator that has a role in the coordination of changes in transcription required to generate pattern in the developing embryo (By similarity).',NULL,NULL,NULL,NULL,NULL),(6616,'UniProt Function',NULL,8061,NULL,'Cytokine that binds to TNFRSF4. Co-stimulates T-cell proliferation and cytokine production.',NULL,NULL,NULL,NULL,NULL),(6617,'UniProt Function',NULL,8062,NULL,'Involved in fertilization. Seems not to play a direct role in sperm-egg binding or gamete fusion.',NULL,NULL,NULL,NULL,NULL),(6618,'UniProt Function',NULL,8063,NULL,'Inhibits NF-kappa-B activation and TNF-induced NF-kappa-B-dependent gene expression by regulating A20/TNFAIP3-mediated deubiquitination of IKBKG; proposed to link A20/TNFAIP3 to ubiquitinated IKBKG. Involved in regulation of EGF-induced ERK1/ERK2 signaling pathway; blocks MAPK3/MAPK1 nuclear translocation and MAPK1-dependent transcription. Increases cell surface CD4(T4) antigen expression. Involved in the anti-inflammatory response of macrophages and positively regulates TLR-induced activation of CEBPB. Involved in the prevention of autoimmunity; this function implicates binding to polyubiquitin. Involved in leukocyte integrin activation during inflammation; this function is mediated by association with SELPLG and dependent on phosphorylation by SRC-family kinases. Interacts with HIV-1 matrix protein and is packaged into virions and overexpression can inhibit viral replication. May regulate matrix nuclear localization, both nuclear import of PIC (Preintegration complex) and export of GAG polyprotein and viral genomic RNA during virion production. In case of infection, promotes association of IKBKG with Shigella flexneri E3 ubiquitin-protein ligase ipah9.8 p which in turn promotes polyubiquitination of IKBKG leading to its proteasome-dependent degradation and thus is perturbing NF-kappa-B activation during bacterial infection.',NULL,NULL,NULL,NULL,NULL),(6619,'UniProt Function',NULL,8065,NULL,'Negative regulator of PRKN translocation to damaged mitochondria. Acts probably by destabilizing PINK1 protein, hence inhibiting PRKN targeting to dysfunctional depolarized mitochondria.',NULL,NULL,NULL,NULL,NULL),(6620,'UniProt Function',NULL,8066,NULL,'Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction. Promotes Arg-Gly-Asp-dependent cell attachment.',NULL,NULL,NULL,NULL,NULL),(6621,'UniProt Function',NULL,8067,NULL,'Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217).',NULL,NULL,NULL,NULL,NULL),(6622,'UniProt Function',NULL,8068,NULL,'Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid (By similarity). The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, seems to act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules (PubMed:11284738, PubMed:12163025). Involved in negative regulation of B-cell antigen receptor signaling. The inhibition of B cell activation is dependent on PTPN6/SHP-1 (By similarity). In association with CD24 may be involved in the selective suppression of the immune response to danger-associated molecular patterns (DAMPs) such as HMGB1, HSP70 and HSP90 (By similarity). In association with CD24 may regulate the immune repsonse of natural killer (NK) cells (PubMed:25450598). Plays a role in the control of autoimmunity (By similarity). During initiation of adaptive immune responses by CD8-alpha(+) dendritic cells inhibits cross-presentation by impairing the formation of MHC class I-peptide complexes. The function seems to implicate recruitment of PTPN6/SHP-1, which dephosphorylates NCF1 of the NADPH oxidase complex consequently promoting phagosomal acidification (By similarity).',NULL,NULL,NULL,NULL,NULL),(6623,'UniProt Function',NULL,8069,NULL,'Involved in the generation of internal asymmetric signals required for neuronal polarization and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or \'clutch engagement\' within the axon growth cone through activation of CDC42, RAC1 and PAK1-dependent signaling pathway, thereby converting the F-actin retrograde flow into traction forces, concomitantly with filopodium extension and axon outgrowth. Plays a role in cytoskeletal organization by regulating the subcellular localization of phosphoinositide 3-kinase (PI3K) activity at the axonal growth cone. Plays also a role in regenerative neurite outgrowth. In the developing cortex, cooperates with KIF20B to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in the accumulation of phosphatidylinositol 3,4,5-trisphosphate (PIP3) in the growth cone of primary hippocampal neurons.',NULL,NULL,NULL,NULL,NULL),(6624,'UniProt Function',NULL,8070,NULL,'Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as CD84, SLAMF1, LY9 and CD244 (PubMed:11689425). In SLAM signaling seems to cooperate with SH2D1A/SAP. Plays a role in regulation of effector functions of natural killer (NK) cells by controlling signal transduction through CD244/2B4 without effecting its tyrosine phosphorylation; downstream signaling involves PLCG1 and ERK activation (PubMed:24687958). Activation of SLAMF7-mediated NK cell function does not effect receptor tyrosine phosphorylation but distal signaling (By similarity). In the context of NK cell-mediated cytotoxicity does not enhance conjugate formation with target cells but stimulates polarization of the microtubule-organizing center and cytotoxic granules toward the NK cell synapse (PubMed:24687958). Negatively regulates CD40-induced cytokine production in dendritic cells downstream of SLAM family receptors probably by inducing activation of the PI3K pathway to inhibit p38 MAPK and JNK activation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6625,'UniProt Function',NULL,8071,NULL,'Involved in the biosynthesis of ganglioside GD1a from GM1b. It exhibits higher activity with glycolipids than with glycoproteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(6626,'UniProt Function',NULL,8072,NULL,'Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of APP. Inhibits APP transport to the cell surface and further shedding.',NULL,NULL,NULL,NULL,NULL),(6627,'UniProt Function',NULL,8073,NULL,'Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. SLAMF1-induced signal-transduction events in T-lymphocytes are different from those in B-cells. Two modes of SLAMF1 signaling seem to exist: one depending on SH2D1A (and perhaps SH2D1B) and another in which protein-tyrosine phosphatase 2C (PTPN11)-dependent signal transduction operates. Initially it has been proposed that association with SH2D1A prevents binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, signaling is also regulated by SH2D1A which can simultaneously interact with and recruit FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214). Mediates IL-2-independent proliferation of activated T-cells during immune responses and induces IFN-gamma production (By similarity). Downstreaming signaling involves INPP5D, DOK1 and DOK2 leading to inhibited IFN-gamma production in T-cells, and PRKCQ, BCL10 and NFKB1 leading to increased T-cell activation and Th2 cytokine production (By similarity). Promotes T-cell receptor-induced IL-4 secretion by CD4(+) cells (By similarity). Inhibits antigen receptor-mediated production of IFN-gamma, but not IL-2, in CD4(-)/CD8(-) T-cells (By similarity). Required for IL-4 production by germinal centers T follicular helper (T(Fh))cells (By similarity). May inhibit CD40-induced signal transduction in monocyte-derived dendritic cells (PubMed:16317102). May play a role in allergic responses and may regulate allergen-induced Th2 cytokine and Th1 cytokine secretion (By similarity). In conjunction with SLAMF6 controls the transition between positive selection and the subsequent expansion and differentiation of the thymocytic natural killer T (NKT) cell lineage. Involved in the peripheral differentiation of indifferent natural killer T (iNKT) cells toward a regulatory NKT2 type (By similarity). In macrophages involved in down-regulation of IL-12, TNF-alpha and nitric oxide in response to lipopolysaccharide (LPS) (By similarity). In B-cells activates the ERK signaling pathway independently of SH2D1A but implicating both, SYK and INPP5D, and activates Akt signaling dependent on SYK and SH2D1A (By similarity). In B-cells also activates p38 MAPK and JNK1 and JNK2 (PubMed:20231852). In conjunction with CD84/SLAMF5 and SLAMF6 may be a negative regulator of the humoral immune response (By similarity). Involved in innate immune response against Gram-negative bacteria in macrophages; probably recognizes OmpC and/or OmpF on the bacterial surface, regulates phagosome maturation and recruitment of the PI3K complex II (PI3KC3-C2) leading to accumulation of PdtIns(3)P and NOX2 activity in the phagosomes (PubMed:20818396).',NULL,NULL,NULL,NULL,NULL),(6628,'UniProt Function',NULL,8073,NULL,'(Microbial infection) Acts as a receptor for Measles virus; also including isoform 4.',NULL,NULL,NULL,NULL,NULL),(6629,'UniProt Function',NULL,8074,NULL,'Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Isoform 1 mediates NK cell activation through a SH2D1A-independent extracellular signal-regulated ERK-mediated pathway (PubMed:11698418). Positively regulates NK cell functions by a mechanism dependent on phosphorylated SH2D1B. Downstream signaling implicates PLCG1, PLCG2 and PI3K (PubMed:16339536). In addition to heterotypic NK cells-target cells interactions also homotypic interactions between NK cells may contribute to activation. However, in the absence of SH2D1B, inhibits NK cell function. Acts also inhibitory in T-cells (By similarity). May play a role in lymphocyte adhesion (PubMed:11802771). In LPS-activated monocytes negatively regulates production of proinflammatory cytokines (PubMed:23695528).',NULL,NULL,NULL,NULL,NULL),(6630,'UniProt Function',NULL,8074,NULL,'Isoform 3 does not mediate any NK cell activation.',NULL,NULL,NULL,NULL,NULL),(6631,'UniProt Function',NULL,8075,NULL,'Plays an essential role in autophagy.',NULL,NULL,NULL,NULL,NULL),(6632,'UniProt Function',NULL,8076,NULL,'Immunoglobulin-like cell surface receptor involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Participates also in the recruitment of tyrosine kinase SYK.',NULL,NULL,NULL,NULL,NULL),(6633,'UniProt Function',NULL,8077,NULL,'GRF is released by the hypothalamus and acts on the adenohypophyse to stimulate the secretion of growth hormone.',NULL,NULL,NULL,NULL,NULL),(6634,'UniProt Function',NULL,8078,NULL,'Endoribonuclease that cleaves tRNAs and rRNAs (PubMed:29563550). Cleaves tRNAs 11 nucleotides from the 3\'-terminus at the acceptor stem (PubMed:29563550). Does not act on tRNA(Sec) (PubMed:29563550). Able to restrict HIV-1 virus replication; ability to inhibit HIV-1 replication is dependent on endoribonuclease activity (PubMed:29563550).',NULL,NULL,NULL,NULL,NULL),(6635,'UniProt Function',NULL,8079,NULL,'Probable ion channel required for the normal function of cochlear hair cells (PubMed:11850618). Component of the hair cell\'s mechanotransduction (MET) machinery. Involved in mechanosensitive responses of the hair cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(6636,'UniProt Function',NULL,8080,NULL,'May play a role in epithelial cell-cell contacts. May play a role in tumor invasiveness and metastasis formation.',NULL,NULL,NULL,NULL,NULL),(6637,'UniProt Function',NULL,8081,NULL,'Binds to type I regulatory subunits of protein kinase A (PKA-RI) and may anchor/target them to the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(6638,'UniProt Function',NULL,8082,NULL,'Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression.',NULL,NULL,NULL,NULL,NULL),(6639,'UniProt Function',NULL,8083,NULL,'Appears to be involved in vesicular protein trafficking, mainly in the early secretory pathway. In COPI vesicle-mediated retrograde transport involved in the coatomer recruitment to membranes of the early secretory pathway. Increases coatomer-dependent activity of ARFGAP2. Thought to play a crucial role in the specific retention of p24 complexes in cis-Golgi membranes; specifically contributes to the coupled localization of TMED2 and TMED10 in the cis-Golgi network. May be involved in organization of intracellular membranes, such as of the ER-Golgi intermediate compartment and the Golgi apparatus. Involved in ER localization of PTPN2 isoform PTPB.',NULL,NULL,NULL,NULL,NULL),(6640,'UniProt Function',NULL,8084,NULL,'The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).',NULL,NULL,NULL,NULL,NULL),(6641,'UniProt Function',NULL,8087,NULL,'G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the hedgehog\'s proteins signal. Binding of sonic hedgehog (SHH) to its receptor patched is thought to prevent normal inhibition by patched of smoothened (SMO). Required for the accumulation of KIF7, GLI2 and GLI3 in the cilia (PubMed:19592253). Interacts with DLG5 at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6642,'UniProt Function',NULL,8088,NULL,'May play a role in spermatogenesis (By similarity). May be involved in differentiation or function of ciliated cells.',NULL,NULL,NULL,NULL,NULL),(6643,'UniProt Function',NULL,8089,NULL,'Essential component of the high affinity receptor for the general membrane fusion machinery and an important regulator of transport vesicle docking and fusion.',NULL,NULL,NULL,NULL,NULL),(6644,'UniProt Function',NULL,8090,NULL,'Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May play a role in the regulation of secretory granules via its interaction with PTPRN.',NULL,NULL,NULL,NULL,NULL),(6645,'UniProt Function',NULL,8091,NULL,'May play a role in mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(6646,'UniProt Function',NULL,8093,NULL,'Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking (By similarity). Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes (Probable). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes (PubMed:25848753). Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:25848753, PubMed:25148684).',NULL,NULL,NULL,NULL,NULL),(6647,'UniProt Function',NULL,8094,NULL,'Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(6648,'UniProt Function',NULL,8095,NULL,'Mediates the Na(+)-independent uptake of organic anions such as 17-beta-glucuronosyl estradiol, taurocholate, triiodothyronine (T3), leukotriene C4, dehydroepiandrosterone sulfate (DHEAS), methotrexate and sulfobromophthalein (BSP). Involved in the clearance of bile acids and organic anions from the liver.',NULL,NULL,NULL,NULL,NULL),(6649,'UniProt Function',NULL,8096,NULL,'Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with ELL. Required for degradation of both endocytosed EGF and EGFR, but not for the EGFR ligand-mediated internalization. It is also required for the degradation of CXCR4. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(6650,'UniProt Function',NULL,8098,NULL,'Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:12198132). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Can sense membrane curvature and has in vitro vesicle-to-membrane remodeling activity (PubMed:19816406, PubMed:23085988). Involved in retrograde endosome-to-TGN transport of lysosomal enzyme receptors (IGF2R, M6PR and SORT1) and Shiginella dysenteria toxin stxB. Plays a role in targeting ligand-activated EGFR to the lysosomes for degradation after endocytosis from the cell surface and release from the Golgi (PubMed:12198132, PubMed:15498486, PubMed:17550970, PubMed:17101778, PubMed:18088323, PubMed:21040701). Involvement in retromer-independent endocytic trafficking of P2RY1 and lysosomal degradation of protease-activated receptor-1/F2R (PubMed:16407403, PubMed:20070609). Promotes KALRN- and RHOG-dependent but retromer-independent membrane remodeling such as lamellipodium formation; the function is dependent on GEF activity of KALRN (PubMed:20604901). Required for endocytosis of DRD5 upon agonist stimulation but not for basal receptor trafficking (PubMed:23152498).',NULL,NULL,NULL,NULL,NULL),(6651,'UniProt Function',NULL,8099,NULL,'May play a role in cellular vesicle trafficking. Has been proposed to function as a sorting protein that targets SELPLG into endosomes, but has no effect on SELPLG internalization from the cell surface, or on SELPLG-mediated cell-cell adhesion.',NULL,NULL,NULL,NULL,NULL),(6652,'UniProt Function',NULL,8100,NULL,'Acts as an endocytic receptor mediating clathrin dependent endocytosis. Macrophage-restricted adhesion molecule that mediates sialic-acid dependent binding to lymphocytes, including granulocytes, monocytes, natural killer cells, B-cells and CD8 T-cells. Preferentially binds to alpha-2,3-linked sialic acid (By similarity). Binds to SPN/CD43 on T-cells (By similarity). May play a role in hemopoiesis.',NULL,NULL,NULL,NULL,NULL),(6653,'UniProt Function',NULL,8102,NULL,'May be involved in several stages of intracellular trafficking.',NULL,NULL,NULL,NULL,NULL),(6654,'UniProt Function',NULL,8103,NULL,'Transports sulfoconjugated steroid hormones, as well as taurolithocholic acid-3-sulfate and sulfoconjugated pyrenes in a sodium-dependent manner.',NULL,NULL,NULL,NULL,NULL),(6655,'UniProt Function',NULL,8104,NULL,'Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Also can bind phosphatidylinositol 4-phosphate (PtdIns(P4)), phosphatidylinositol 5-phosphate (PtdIns(P5)) and phosphatidylinositol 3,5-biphosphate (PtdIns(3,5)P2) (By similarity). Plays a role in protein transport between cellular compartments. Together with RAB7A facilitates endosome membrane association of the retromer cargo-selective subcomplex (CSC/VPS). May in part act as component of the SNX3-retromer complex which mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway (PubMed:21725319, PubMed:24344282). Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation. Involved in the regulation of phagocytosis in dendritic cells possibly by regulating EEA1 recruitment to the nascent phagosomes (PubMed:23237080). Involved in iron homeostasis through regulation of endocytic recycling of the transferrin receptor TFRC presumably by delivering the transferrin:transferrin receptor complex to recycling endosomes; the function may involve the CSC retromer subcomplex (By similarity). In the case of Salmonella enterica infection plays arole in maturation of the Salmonella-containing vacuole (SCV) and promotes recruitment of LAMP1 to SCVs (PubMed:20482551).',NULL,NULL,NULL,NULL,NULL),(6656,'UniProt Function',NULL,8105,NULL,'Regulates signaling cascades probably through protein ubiquitination and/or sequestration. Functions in insulin signaling and glucose homeostasis through IRS1 ubiquitination and subsequent proteasomal degradation. Inhibits also prolactin, growth hormone and leptin signaling by preventing STAT3 and STAT5 activation, sequestering them in the cytoplasm and reducing their binding to DNA. May be a substrate recognition component of a SCF-like E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(6657,'UniProt Function',NULL,8106,NULL,'Regulates autophagy by playing a role in the reduction of glucose production in an adiponectin- and insulin-dependent manner.',NULL,NULL,NULL,NULL,NULL),(6658,'UniProt Function',NULL,8109,NULL,'Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(6659,'UniProt Function',NULL,8111,NULL,'Secreted cytokine-like protein. Inhibits cell growth in vitro.',NULL,NULL,NULL,NULL,NULL),(6660,'UniProt Function',NULL,8112,NULL,'Secreted cytokine-like protein (PubMed:12847263). Binds to the scavenger receptor MARCO (PubMed:12847263). Can also bind to pathogens including the Gram-positive bacterium L.monocytogenes, the Gram-negative bacterium P.aeruginosa, and yeast (PubMed:12847263). Strongly inhibits phospholipase A2 (PLA2G1B) activity (PubMed:24213919). Seems to have anti-inflammatory effects in respiratory epithelium (By similarity). Also has anti-fibrotic activity in lung (PubMed:24213919). May play a role in fetal lung development and maturation (PubMed:24213919). Promotes branching morphogenesis during early stages of lung development (PubMed:24213919). In the pituitary, may inhibit production of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (By similarity).',NULL,NULL,NULL,NULL,NULL),(6661,'UniProt Function',NULL,8114,NULL,'Has E3 ubiquitin-protein ligase activity. In the absence of an external substrate, it can catalyze self-ubiquitination (PubMed:15659549, PubMed:20696164). Stimulates ubiquitination of potassium channel KCNJ1, enhancing it\'s dynamin-dependent and clathrin-independent endocytosis (PubMed:19710010). Acts as a scaffold protein that coordinates with MAPK8IP1/JIP1 in organizing different components of the JNK pathway, including RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/or MAPK9/JNK2 into a functional multiprotein complex to ensure the effective activation of the JNK signaling pathway. Regulates the differentiation of CD4(+) and CD8(+) T-cells and promotes T-helper 1 (Th1) cell differentiation. Regulates the activation of MAPK8/JNK1 and MAPK9/JNK2 in CD4(+) T-cells and the activation of MAPK8/JNK1 in CD8(+) T-cells. Plays a crucial role in the migration of neocortical neurons in the developing brain. Controls proper cortical neuronal migration and the formation of proximal cytoplasmic dilation in the leading process (PCDLP) in migratory neocortical neurons by regulating the proper localization of activated RAC1 and F-actin assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(6662,'UniProt Function',NULL,8114,NULL,'(Microbial infection) Plays an essential role in the targeting of HIV-1 Gag to the plasma membrane, this function is dependent on it\'s RING domain, and hence it\'s E3 ligase activity.',NULL,NULL,NULL,NULL,NULL),(6663,'UniProt Function',NULL,8115,NULL,'Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in cortical neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(6664,'UniProt Function',NULL,8116,NULL,'Cooperates with PPP2CA to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I. Has a crucial role in protecting REC8 at centromeres from cleavage by separase. During meiosis, protects centromeric cohesion complexes until metaphase II/anaphase II transition, preventing premature release of meiosis-specific REC8 cohesin complexes from anaphase I centromeres. Is thus essential for an accurate gametogenesis. May act by targeting PPP2CA to centromeres, thus leading to cohesin dephosphorylation (By similarity). Essential for recruiting KIF2C to the inner centromere and for correcting defective kinetochore attachments. Involved in centromeric enrichment of AUKRB in prometaphase.',NULL,NULL,NULL,NULL,NULL),(6665,'UniProt Function',NULL,8117,NULL,'Involved in the synthesis of sialyl-paragloboside, a precursor of sialyl-Lewis X determinant. Has a alpha-2,3-sialyltransferase activity toward Gal-beta1,4-GlcNAc structure on glycoproteins and glycolipids. Has a restricted substrate specificity, it utilizes Gal-beta1,4-GlcNAc on glycoproteins, and neolactotetraosylceramide and neolactohexaosylceramide, but not lactotetraosylceramide, lactosylceramide or asialo-GM1.',NULL,NULL,NULL,NULL,NULL),(6666,'UniProt Function',NULL,8118,NULL,'Transfers sialic acid from the donor of substrate CMP-sialic acid to galactose containing acceptor substrates. Has alpha-2,6-sialyltransferase activity toward oligosaccharides that have the Gal-beta-1,4-GlcNAc sequence at the non-reducing end of their carbohydrate groups, but it has weak or no activities toward glycoproteins and glycolipids.',NULL,NULL,NULL,NULL,NULL),(6667,'UniProt Function',NULL,8119,NULL,'Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection. Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres.',NULL,NULL,NULL,NULL,NULL),(6668,'UniProt Function',NULL,8120,NULL,'Involved in the inhibition of cytokine-induced death of pancreatic beta cells. Involved in the promotion of insulin secretion from pancreatic beta cells (PubMed:21853325). Is a downstream transcriptional target of p53/TP53, and acts as a pro-survival homeostatic factor that attenuates the development of cellular stress. Maintains protein homeostasis and promotes cell survival through attenuation of endoplasmic reticulum (ER) stress and the subsequent induction of unfolded protein response (UPR) (PubMed:27740623).',NULL,NULL,NULL,NULL,NULL),(6669,'UniProt Function',NULL,8121,NULL,'Adapter protein, which negatively regulates T-cell receptor (TCR) signaling. Inhibits T-cell antigen-receptor induced activation of nuclear factor of activated T-cells. May act by linking signaling proteins such as ZAP70 with CBL, leading to a CBL dependent degradation of signaling proteins.',NULL,NULL,NULL,NULL,NULL),(6670,'UniProt Function',NULL,8123,NULL,'Binds and may modulate the functional properties of nicotinic and muscarinic acetylcholine receptors. May regulate keratinocytes proliferation, differentiation and apoptosis. In vitro moderately inhibits ACh-evoked currents of alpha-3:beta-2-containing nAChRs and strongly these of alpha-4:beta-2-containing nAChRs, modulates alpha-7-containing nAChRs, and inhibits nicotine-induced signaling probably implicating alpha-3:beta-4-containing nAChRs. Proposed to act on alpha-3:beta-2 and alpha-7 nAChRs in an orthosteric, and on mAChRs, such as CHRM1 and CHRM3, in an allosteric manner.',NULL,NULL,NULL,NULL,NULL),(6671,'UniProt Function',NULL,8125,NULL,'Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus (Probable). Together with GNA12 promotes CDH5 localization to plasma membrane (PubMed:15980433).',NULL,NULL,NULL,NULL,NULL),(6672,'UniProt Function',NULL,8126,NULL,'Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box.',NULL,NULL,NULL,NULL,NULL),(6673,'UniProt Function',NULL,8127,NULL,'May control cell-cell adhesion, cell migration and proliferation, cell morphology, and protects renal epithelial cells from oxidative cell injury to promote cell survival.',NULL,NULL,NULL,NULL,NULL),(6674,'UniProt Function',NULL,8128,NULL,'Protein-lysine N-methyltransferase that methylates both histones and non-histone proteins, including p53/TP53 and RB1. Specifically methylates histone H3 \'Lys-4\' (H3K4me) and dimethylates histone H3 \'Lys-36\' (H3K36me2). Shows even higher methyltransferase activity on p53/TP53. Monomethylates \'Lys-370\' of p53/TP53, leading to decreased DNA-binding activity and subsequent transcriptional regulation activity of p53/TP53. Monomethylates RB1 at \'Lys-860\'.',NULL,NULL,NULL,NULL,NULL),(6675,'UniProt Function',NULL,8129,NULL,'Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions.',NULL,NULL,NULL,NULL,NULL),(6676,'UniProt Function',NULL,8130,NULL,'Involved in the retrograde transport from endosome to plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. Following internalization, endocytosed transmembrane proteins are delivered to early endosomes and recycled to the plasma membrane instead of being degraded in lysosomes. SNX27 specifically binds and directs sorting of a subset of transmembrane proteins containing a PDZ-binding motif at the C-terminus: following interaction with target transmembrane proteins, associates with the retromer complex, preventing entry into the lysosomal pathway, and promotes retromer-tubule based plasma membrane recycling. SNX27 also binds with the WASH complex. Interacts with membranes containing phosphatidylinositol-3-phosphate (PtdIns(3P)). May participate in establishment of natural killer cell polarity. Recruits CYTIP to early endosomes.',NULL,NULL,NULL,NULL,NULL),(6677,'UniProt Function',NULL,8131,NULL,'Plays a role in mitochondrial morphogenesis.',NULL,NULL,NULL,NULL,NULL),(6678,'UniProt Function',NULL,8132,NULL,'Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).',NULL,NULL,NULL,NULL,NULL),(6679,'UniProt Function',NULL,8133,NULL,'Acts as a translational repressor of SRE-containing messengers.',NULL,NULL,NULL,NULL,NULL),(6680,'UniProt Function',NULL,8134,NULL,'May be involved in several stages of intracellular trafficking. Plays a role in protein transport from early to late endosomes. Plays a role in protein transport to the lysosome. Promotes degradation of EGFR after EGF signaling. Plays a role in intracellular transport of vesicular stomatitis virus nucleocapsids from the endosome to the cytoplasm.',NULL,NULL,NULL,NULL,NULL),(6681,'UniProt Function',NULL,8135,NULL,'Mediates the Na(+)-independent high affinity transport of organic anions such as the thyroid hormones thyroxine (T4) and rT3. Other potential substrates, such as triiodothyronine (T3), 17-beta-glucuronosyl estradiol, estrone-3-sulfate and sulfobromophthalein (BSP) are transported with much lower efficiency. May play a signifiant role in regulating T4 flux into and out of the brain (By similarity).',NULL,NULL,NULL,NULL,NULL),(6682,'UniProt Function',NULL,8136,NULL,'Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:15561769). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Does not have in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Involved in retrograde transport of lysosomal enzyme receptor IGF2R (PubMed:17148574, PubMed:18596235). May function as link between endosomal transport vesicles and dynactin (Probable). Plays a role in the internalization of EGFR after EGF stimulation (Probable). Involved in EGFR endosomal sorting and degradation; the function involves PIP5K1C isoform 3 and is retromer-independent (PubMed:23602387). Together with PIP5K1C isoform 3 facilitates HGS interaction with ubiquitinated EGFR, which initiates EGFR sorting to intraluminal vesicles (ILVs) of the multivesicular body for subsequent lysosomal degradation (Probable). Involved in E-cadherin sorting and degradation; inhibits PIP5K1C isoform 3-mediated E-cadherin degradation (PubMed:24610942). Plays a role in macropinocytosis (PubMed:18854019, PubMed:21048941).',NULL,NULL,NULL,NULL,NULL),(6683,'UniProt Function',NULL,8137,NULL,'Plays a role in intracellular vesicle trafficking and exocytosis (PubMed:24843546). May play a role in maintaining insulin-containing dense core vesicles in pancreatic beta-cells and in preventing their degradation. May play a role in insulin secretion (PubMed:24843546). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (By similarity).',NULL,NULL,NULL,NULL,NULL),(6684,'UniProt Function',NULL,8138,NULL,'Organic anion transporter, capable of transporting pharmacological substances such as digoxin, ouabain, thyroxine, methotrexate and cAMP. May participate in the regulation of membrane transport of ouabain. Involved in the uptake of the dipeptidyl peptidase-4 inhibitor sitagliptin and hence may play a role in its transport into and out of renal proximal tubule cells. May be involved in the first step of the transport pathway of digoxin and various compounds into the urine in the kidney. May be involved in sperm maturation by enabling directed movement of organic anions and compounds within or between cells. This ion-transporting process is important to maintain the strict epididymal homeostasis necessary for sperm maturation. May have a role in secretory functions since seminal vesicle epithelial cells are assumed to secrete proteins involved in decapacitation by modifying surface proteins to facilitate the acquisition of the ability to fertilize the egg.',NULL,NULL,NULL,NULL,NULL),(6685,'UniProt Function',NULL,8139,NULL,'Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Plays a role in endocytosis via clathrin-coated pits, but also clathrin-independent, actin-dependent fluid-phase endocytosis. Plays a role in macropinocytosis. Promotes internalization of TNFR. Promotes degradation of EGFR after EGF signaling. Stimulates the GTPase activity of DNM1. Promotes DNM1 oligomerization. Promotes activation of the Arp2/3 complex by WASL, and thereby plays a role in the reorganization of the F-actin cytoskeleton. Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane tubulation. Has lower affinity for membranes enriched in phosphatidylinositol 3-phosphate.',NULL,NULL,NULL,NULL,NULL),(6686,'UniProt Function',NULL,8140,NULL,'Binds to membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(P3)) and phosphatidylinositol 4,5-bisphosphate. May be involved in several stages of intracellular trafficking.',NULL,NULL,NULL,NULL,NULL),(6687,'UniProt Function',NULL,8142,NULL,'Mediates the Na(+)-independent transport of organic anions such as sulfobromophthalein (BSP) and conjugated (taurocholate) and unconjugated (cholate) bile acids (By similarity). Selectively inhibited by the grapefruit juice component naringin.',NULL,NULL,NULL,NULL,NULL),(6688,'UniProt Function',NULL,8145,NULL,'Positively regulates TNFSF11-induced osteoclast differentiation. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with SERCA2 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation. Negatively regulates osteoblast differentiation and positively regulates adipocyte differentiation via modulation of the canonical Wnt signaling pathway. Mediates the switch in lineage commitment to osteogenesis rather than to adipogenesis in mesenchymal stem cells by negatively regulating the expression, activity and nuclear localization of CTNNB1.',NULL,NULL,NULL,NULL,NULL),(6689,'UniProt Function',NULL,8146,NULL,'May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contributes to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication (By similarity). May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance (PubMed:28295037).',NULL,NULL,NULL,NULL,NULL),(6690,'UniProt Function',NULL,8147,NULL,'Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.',NULL,NULL,NULL,NULL,NULL),(6691,'UniProt Function',NULL,8148,NULL,'Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:16186509). Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling.',NULL,NULL,NULL,NULL,NULL),(6692,'UniProt Function',NULL,8149,NULL,'Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.',NULL,NULL,NULL,NULL,NULL),(6693,'UniProt Function',NULL,8150,NULL,'May play a role in cell motility and cell adhesion.',NULL,NULL,NULL,NULL,NULL),(6694,'UniProt Function',NULL,8151,NULL,'Translation factor necessary for the incorporation of selenocysteine into proteins. It probably replaces EF-Tu for the insertion of selenocysteine directed by the UGA codon. SelB binds GTP and GDP.',NULL,NULL,NULL,NULL,NULL),(6695,'UniProt Function',NULL,8152,NULL,'Protease that catalyzes two essential functions in the NEDD8 pathway: processing of full-length NEDD8 to its mature form and deconjugation of NEDD8 from targeted proteins such as cullins or p53.',NULL,NULL,NULL,NULL,NULL),(6696,'UniProt Function',NULL,8153,NULL,'Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential).',NULL,NULL,NULL,NULL,NULL),(6697,'UniProt Function',NULL,8154,NULL,'Participates in the formation of a gel matrix (sperm coagulum) entrapping the accessory gland secretions and ejaculated spermatozoa.',NULL,NULL,NULL,NULL,NULL),(6698,'UniProt Function',NULL,8155,NULL,'Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm (PubMed:26416733, PubMed:26416734).',NULL,NULL,NULL,NULL,NULL),(6699,'UniProt Function',NULL,8156,NULL,'Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm (PubMed:26416733, PubMed:26416734). Enhances the incorporation of serine into phosphatidylserine and sphingolipids. May play a role in providing serine molecules for the formation of myelin glycosphingolipids in oligodendrocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(6700,'UniProt Function',NULL,8157,NULL,'Histone methyltransferase that specifically methylates \'Lys-4\' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring \'Lys-9\' residue is already methylated. H3 \'Lys-4\' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1A suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression. Specifically tri-methylates \'Lys-4\' of histone H3 in vitro.',NULL,NULL,NULL,NULL,NULL),(6701,'UniProt Function',NULL,8158,NULL,'Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex, a constituent of the spliceosome (PubMed:27720643, PubMed:28781166). SF3B complex is required for \'A\' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937).',NULL,NULL,NULL,NULL,NULL),(6702,'UniProt Function',NULL,8159,NULL,'Probable serine protease inhibitor.',NULL,NULL,NULL,NULL,NULL),(6703,'UniProt Function',NULL,8160,NULL,'Plays a role as a transcriptional activator involved in the early stage of somatic cell reprogramming. Promotes the differentiation of protein-induced pluripotent stem (PiPS) cells into endothelial cells and the formation of vascular-like tubes (in vitro). Involved in the transcription induction of vascular endothelial-cadherin (VE-cadherin) expression. Associates to the VE-cadherin gene promoter.',NULL,NULL,NULL,NULL,NULL),(6704,'UniProt Function',NULL,8161,NULL,'DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as a heteromer with NONO. Binds to pre-mRNA in spliceosome C complex, and specifically binds to intronic polypyrimidine tracts. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45, a phosphorylated form is sequestered by THRAP3 from the pre-mRNA in resting T-cells; T-cell activation and subsequent reduced phosphorylation is proposed to lead to release from THRAP3 allowing binding to pre-mRNA splicing regulatotry elements which represses exon inclusion. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3\' side of U5 snRNA stem 1b. May be involved in a pre-mRNA coupled splicing and polyadenylation process as component of a snRNP-free complex with SNRPA/U1A. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclear retention of defective RNAs. SFPQ may be involved in homologous DNA pairing; in vitro, promotes the invasion of ssDNA between a duplex DNA and produces a D-loop formation. The SFPQ-NONO heteromer may be involved in DNA unwinding by modulating the function of topoisomerase I/TOP1; in vitro, stimulates dissociation of TOP1 from DNA after cleavage and enhances its jumping between separate DNA helices. The SFPQ-NONO heteromer binds DNA (PubMed:25765647). The SFPQ-NONO heteromer may be involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination and may stabilize paired DNA ends; in vitro, the complex strongly stimulates DNA end joining, binds directly to the DNA substrates and cooperates with the Ku70/G22P1-Ku80/XRCC5 (Ku) dimer to establish a functional preligation complex. SFPQ is involved in transcriptional regulation. Functions as transcriptional activator (PubMed:25765647). Transcriptional repression is mediated by an interaction of SFPQ with SIN3A and subsequent recruitment of histone deacetylases (HDACs). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. SFPQ isoform Long binds to the DNA binding domains (DBD) of nuclear hormone receptors, like RXRA and probably THRA, and acts as transcriptional corepressor in absence of hormone ligands. Binds the DNA sequence 5\'-CTGAGTC-3\' in the insulin-like growth factor response element (IGFRE) and inhibits IGF-I-stimulated transcriptional activity. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation (By similarity). Required for the assembly of nuclear speckles (PubMed:25765647). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728).',NULL,NULL,NULL,NULL,NULL),(6705,'UniProt Function',NULL,8164,NULL,'Plays a central role in chromosome cohesion during mitosis by preventing premature dissociation of cohesin complex from centromeres after prophase, when most of cohesin complex dissociates from chromosomes arms. May act by preventing phosphorylation of the STAG2 subunit of cohesin complex at the centromere, ensuring cohesin persistence at centromere until cohesin cleavage by ESPL1/separase at anaphase. Essential for proper chromosome segregation during mitosis and this function requires interaction with PPP2R1A. Its phosphorylated form is necessary for chromosome congression and for the proper attachment of spindle microtubule to the kinetochore. Necessary for kinetochore localization of PLK1 and CENPF. May play a role in the tension sensing mechanism of the spindle-assembly checkpoint by regulating PLK1 kinetochore affinity. Isoform 3 plays a role in maintaining centriole cohesion involved in controlling spindle pole integrity. Involved in centromeric enrichment of AUKRB in prometaphase.',NULL,NULL,NULL,NULL,NULL),(6706,'UniProt Function',NULL,8165,NULL,'Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(6707,'UniProt Function',NULL,8166,NULL,'Induces CD27-mediated apoptosis. Inhibits BCL2L1 isoform Bcl-x(L) anti-apoptotic activity. Inhibits activation of NF-kappa-B and promotes T-cell receptor-mediated apoptosis.',NULL,NULL,NULL,NULL,NULL),(6708,'UniProt Function',NULL,8169,NULL,'Acts as a transcriptional repressor. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Interacts with MAD-MAX heterodimers by binding to MAD. The heterodimer then represses transcription by tethering SIN3B to DNA. Also forms a complex with FOXK1 which represses transcription. With FOXK1, regulates cell cycle progression probably by repressing cell cycle inhibitor genes expression.',NULL,NULL,NULL,NULL,NULL),(6709,'UniProt Function',NULL,8171,NULL,'Transporter for the intake of folate. Uptake of folate in human placental choriocarcinoma cells occurs by a novel mechanism called potocytosis which functionally couples three components, namely the folate receptor, the folate transporter, and a V-type H(+)-pump.',NULL,NULL,NULL,NULL,NULL),(6710,'UniProt Function',NULL,8172,NULL,'Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5\'-AGGTCA-3\' sites known as DR1-DR5. The high affinity ligand for RXRs is 9-cis retinoic acid. RXRA serves as a common heterodimeric partner for a number of nuclear receptors. In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone acetylation, chromatin condensation and transcriptional suppression. On ligand binding, the corepressors dissociate from the receptors and associate with the coactivators leading to transcriptional activation. The RXRA/PPARA heterodimer is required for PPARA transcriptional activity on fatty acid oxidation genes such as ACOX1 and the P450 system genes.',NULL,NULL,NULL,NULL,NULL),(6711,'UniProt Function',NULL,8173,NULL,'Required for normal heme biosynthesis.',NULL,NULL,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (6712,'UniProt Function',NULL,8174,NULL,'G-protein coupled receptor for the bioactive lysosphingolipid sphingosine 1-phosphate (S1P) that seems to be coupled to the G(i) subclass of heteromeric G proteins. Signaling leads to the activation of RAC1, SRC, PTK2/FAK1 and MAP kinases. Plays an important role in cell migration, probably via its role in the reorganization of the actin cytoskeleton and the formation of lamellipodia in response to stimuli that increase the activity of the sphingosine kinase SPHK1. Required for normal chemotaxis toward sphingosine 1-phosphate. Required for normal embryonic heart development and normal cardiac morphogenesis. Plays an important role in the regulation of sprouting angiogenesis and vascular maturation. Inhibits sprouting angiogenesis to prevent excessive sprouting during blood vessel development. Required for normal egress of mature T-cells from the thymus into the blood stream and into peripheral lymphoid organs. Plays a role in the migration of osteoclast precursor cells, the regulation of bone mineralization and bone homeostasis (By similarity). Plays a role in responses to oxidized 1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphocholine by pulmonary endothelial cells and in the protection against ventilator-induced lung injury.',NULL,NULL,NULL,NULL,NULL),(6713,'UniProt Function',NULL,8175,NULL,'Because S100A10 induces the dimerization of ANXA2/p36, it may function as a regulator of protein phosphorylation in that the ANXA2 monomer is the preferred target (in vitro) of tyrosine-specific kinase.',NULL,NULL,NULL,NULL,NULL),(6714,'UniProt Function',NULL,8176,NULL,'Probable sugar transporter.',NULL,NULL,NULL,NULL,NULL),(6715,'UniProt Function',NULL,8177,NULL,'Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis.',NULL,NULL,NULL,NULL,NULL),(6716,'UniProt Function',NULL,8178,NULL,'Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine, norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside analogs such as uridine, cytidine, thymidine, adenosine, inosine, guanosine, and azidothymidine. In (PubMed:16873718) adenosine is efficiently transported but in a fashion highly sensitive to extracellular pH, with maximal activity in the pH range 5.5 to 6.5. Glu-206 is essential for the cation selectivity and may function as the charge sensor for cationic substrates. Transport is chloride and sodium-independent but appears to be sensitive to changes in membrane potential. Weakly inhibited by the classical inhibitors of equilibrative nucleoside transport, dipyridamole, dilazep, and nitrobenzylthioinosine. May play a role in the regulation of extracellular adenosine concentrations in cardiac tissues, in particular during ischemia.',NULL,NULL,NULL,NULL,NULL),(6717,'UniProt Function',NULL,8179,NULL,'Acts as a zinc-influx transporter.',NULL,NULL,NULL,NULL,NULL),(6718,'UniProt Function',NULL,8180,NULL,'May play a role in intracellular calcium sensing and homeostasis. May act as a negative regulator of plasma membrane calcium-transporting ATPases preventing calcium efflux from the cell.',NULL,NULL,NULL,NULL,NULL),(6719,'UniProt Function',NULL,8181,NULL,'May play a role in cell proliferation.',NULL,NULL,NULL,NULL,NULL),(6720,'UniProt Function',NULL,8182,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(6721,'UniProt Function',NULL,8183,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(6722,'UniProt Function',NULL,8184,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(6723,'UniProt Function',NULL,8185,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(6724,'UniProt Function',NULL,8186,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(6725,'UniProt Function',NULL,8187,NULL,'High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-5 carbon atoms. The stoichiometry is probably 3 Na(+) for 1 divalent succinate.',NULL,NULL,NULL,NULL,NULL),(6726,'UniProt Function',NULL,8188,NULL,'Lysosomal amino acid transporter involved in the activation of mTORC1 in response to amino acids. Probably acts as an amino acid sensor of the Rag GTPases and Ragulator complexes, 2 complexes involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:25561175, PubMed:25567906). Following activation by amino acids, the Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. SLC38A9 mediates transport of amino acids with low capacity and specificity with a slight preference for polar amino acids, suggesting that it acts as an amino acid sensor instead (PubMed:25561175, PubMed:25567906). The high concentration of arginine in lysosomes suggests that it acts as an arginine sensor (PubMed:25567906).',NULL,NULL,NULL,NULL,NULL),(6727,'UniProt Function',NULL,8189,NULL,'Transporter which plays an important role in sodium-mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (By similarity). Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter.',NULL,NULL,NULL,NULL,NULL),(6728,'UniProt Function',NULL,8190,NULL,'Acts as a plasma-membrane magnesium transporter.',NULL,NULL,NULL,NULL,NULL),(6729,'UniProt Function',NULL,8191,NULL,'Appears to play a crucial role in the insertion of secretory and membrane polypeptides into the ER. It is required for assembly of membrane and secretory proteins. Found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(6730,'UniProt Function',NULL,8192,NULL,'Directs RNA polymerase II nuclear import.',NULL,NULL,NULL,NULL,NULL),(6731,'UniProt Function',NULL,8194,NULL,'Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(6732,'UniProt Function',NULL,8195,NULL,'Mediates electroneutral sodium- and carbonate-dependent chloride-HCO3(-) exchange with a Na(+):HCO3(-) stoichiometry of 2:1. Plays a major role in pH regulation in neurons. May be involved in cell pH regulation by transporting HCO3(-) from blood to cell. Enhanced expression in severe acid stress could be important for cell survival by mediating the influx of HCO3(-) into the cells. Also mediates lithium-dependent HCO3(-) cotransport. May be regulated by osmolarity.',NULL,NULL,NULL,NULL,NULL),(6733,'UniProt Function',NULL,8196,NULL,'Riboflavin transporter. Riboflavin transport is Na(+)-independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).',NULL,NULL,NULL,NULL,NULL),(6734,'UniProt Function',NULL,8197,NULL,'Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins.',NULL,NULL,NULL,NULL,NULL),(6735,'UniProt Function',NULL,8198,NULL,'Plays a crucial role in the maintenance of the structure of mitochondrial cristae and the proper assembly of the mitochondrial respiratory chain complexes (PubMed:22252321, PubMed:25781180). Required for the assembly of TOMM40 into the TOM complex (PubMed:15644312).',NULL,NULL,NULL,NULL,NULL),(6736,'UniProt Function',NULL,8199,NULL,'May function as a signaling adapter protein in lymphocytes.',NULL,NULL,NULL,NULL,NULL),(6737,'UniProt Function',NULL,8200,NULL,'S-adenosyl-L-methionine-binding protein that acts as an inhibitor of mTORC1 signaling via interaction with the GATOR1 and KICSTOR complexes (PubMed:29123071). Acts as a sensor of S-adenosyl-L-methionine to signal methionine sufficiency to mTORC1: in presence of methionine, binds S-adenosyl-L-methionine, leading to disrupt interaction with the GATOR1 and KICSTOR complexes and promote mTORC1 signaling (PubMed:29123071). Upon methionine starvation, S-adenosyl-L-methionine levels are reduced, thereby promoting the association with GATOR1 and KICSTOR, leading to inhibit mTORC1 signaling (PubMed:29123071). Probably also acts as a S-adenosyl-L-methionine-dependent methyltransferase (Potential).',NULL,NULL,NULL,NULL,NULL),(6738,'UniProt Function',NULL,8201,NULL,'Negative regulator of MYD88- and TRIF-dependent toll-like receptor signaling pathway which plays a pivotal role in activating axonal degeneration following injury. Promotes Wallerian degeneration an injury-induced axonal death pathway which involves degeneration of an axon distal to the injury site. Can activate neuronal death in response to stress. Regulates dendritic arborization through the MAPK4-JNK pathway. Involved in innate immune response. Inhibits both TICAM1/TRIF- and MYD88-dependent activation of JUN/AP-1, TRIF-dependent activation of NF-kappa-B and IRF3, and the phosphorylation of MAPK14/p38.',NULL,NULL,NULL,NULL,NULL),(6739,'UniProt Function',NULL,8202,NULL,'Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. May be required for cardiac atrioventricular canal formation.',NULL,NULL,NULL,NULL,NULL),(6740,'UniProt Function',NULL,8203,NULL,'Sphingomyelin synthases synthesize sphingolipids through transfer of a phosphatidyl head group on to the primary hydroxyl of ceramide. SAMD8 is an endoplasmic reticulum (ER) transferase that has no sphingomyelin synthase activity but can convert phosphatidylethanolamine (PE) and ceramide to ceramide phosphoethanolamine (CPE) albeit with low product yield. Appears to operate as a ceramide sensor to control ceramide homeostasis in the endoplasmic reticulum rather than a converter of ceramides. Seems to be critical for the integrity of the early secretory pathway.',NULL,NULL,NULL,NULL,NULL),(6741,'UniProt Function',NULL,8204,NULL,'Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine.',NULL,NULL,NULL,NULL,NULL),(6742,'UniProt Function',NULL,8205,NULL,'Binds SECIS (Sec insertion sequence) elements present on selenocysteine (Sec) protein mRNAs, but does not promote Sec incorporation into selenoproteins in vitro.',NULL,NULL,NULL,NULL,NULL),(6743,'UniProt Function',NULL,8206,NULL,'Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals.',NULL,NULL,NULL,NULL,NULL),(6744,'UniProt Function',NULL,8207,NULL,'Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface.',NULL,NULL,NULL,NULL,NULL),(6745,'UniProt Function',NULL,8209,NULL,'Terminates the action of proline by its high affinity sodium-dependent reuptake into presynaptic terminals.',NULL,NULL,NULL,NULL,NULL),(6746,'UniProt Function',NULL,8210,NULL,'Required for the uptake of creatine in muscles and brain.',NULL,NULL,NULL,NULL,NULL),(6747,'UniProt Function',NULL,8211,NULL,'Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity).',NULL,NULL,NULL,NULL,NULL),(6748,'UniProt Function',NULL,8212,NULL,'Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.',NULL,NULL,NULL,NULL,NULL),(6749,'UniProt Function',NULL,8213,NULL,'Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15229189, PubMed:17189203). Also acts as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2 (PubMed:19336478).',NULL,NULL,NULL,NULL,NULL),(6750,'UniProt Function',NULL,8214,NULL,'Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.',NULL,NULL,NULL,NULL,NULL),(6751,'UniProt Function',NULL,8215,NULL,'Probable nucleotidyltransferase that may act as a non-canonical poly(A) RNA polymerase.',NULL,NULL,NULL,NULL,NULL),(6752,'UniProt Function',NULL,8216,NULL,'Positive regulator of amino acid starvation-induced autophagy.',NULL,NULL,NULL,NULL,NULL),(6753,'UniProt Function',NULL,8217,NULL,'Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate.',NULL,NULL,NULL,NULL,NULL),(6754,'UniProt Function',NULL,8218,NULL,'Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier (By similarity).',NULL,NULL,NULL,NULL,NULL),(6755,'UniProt Function',NULL,8219,NULL,'Required both for the formation of intercellular bridges during meiosis and for kinetochore-microtubule attachment during mitosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells and are required for spermatogenesis and male fertility. Acts by promoting the conversion of midbodies into intercellular bridges via its interaction with CEP55: interaction with CEP55 inhibits the interaction between CEP55 and PDCD6IP/ALIX and TSG101, blocking cell abscission and leading to transform midbodies into intercellular bridges. Also plays a role during mitosis: recruited to kinetochores by PLK1 during early mitosis and regulates the maturation of the outer kinetochores and microtubule attachment. Has no protein kinase activity in vitro (By similarity).',NULL,NULL,NULL,NULL,NULL),(6756,'UniProt Function',NULL,8220,NULL,'Modulates channel gating kinetics. Causes unique persistent sodium currents. Inactivates the sodium channel opening more slowly than the subunit beta-1. Its association with NFASC may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons (By similarity).',NULL,NULL,NULL,NULL,NULL),(6757,'UniProt Function',NULL,8222,NULL,'May be involved in thymocyte signaling.',NULL,NULL,NULL,NULL,NULL),(6758,'UniProt Function',NULL,8223,NULL,'Involved in both DNA replication and cell cycle control (PubMed:27906959). Unprocessed SDE2 interacts with PCNA via its PIP-box. The interaction with PCNA prevents monoubiquitination of the latter thereby inhibiting translesion DNA synthesis. The binding of SDE2 to PCNA also leads to processing of SDE2 by an unidentified deubiquitinating enzyme, cleaving off the N-terminal ubiquitin-like domain. The resulting mature SDE2 is degraded by the DCX(DTL) complex in a cell cycle- and DNA damage dependent manner (PubMed:27906959). Binding of SDE2 to PCNA is necessary to counteract damage due to ultraviolet light induced replication stress. The complete degradation of SDE2 is necessary to allow S-phase progression (PubMed:27906959).',NULL,NULL,NULL,NULL,NULL),(6759,'UniProt Function',NULL,8224,NULL,'May be involved in membrane trafficking in the early secretory pathway. Inhibits BACE1 activity and amyloid precursor protein processing. May induce caspase-8 cascade and apoptosis. May favor BCL2 translocation to the mitochondria upon endoplasmic reticulum stress. In case of enteroviruses infection, RTN3 may be involved in the viral replication or pathogenesis. Induces the formation of endoplasmic reticulum tubules (PubMed:25612671).',NULL,NULL,NULL,NULL,NULL),(6760,'UniProt Function',NULL,8226,NULL,'Positively regulates macroautophagy in primary dendritic cells. Increases autophagic flux, probably by stimulating both autophagosome formation and facilitating tethering with lysosomes. Binds to phosphatidylinositol 3-phosphate (PtdIns3P) through its FYVE-type zinc finger.',NULL,NULL,NULL,NULL,NULL),(6761,'UniProt Function',NULL,8227,NULL,'Sodium/sulfate cotransporter that mediates sulfate reabsorption in the high endothelial venules (HEV).',NULL,NULL,NULL,NULL,NULL),(6762,'UniProt Function',NULL,8228,NULL,'Binds calcium, zinc and copper. One subunit can simultaneously bind 2 calcium ions or 2 copper ions plus 1 zinc ion. Calcium and copper ions compete for the same binding sites.',NULL,NULL,NULL,NULL,NULL),(6763,'UniProt Function',NULL,8229,NULL,'Carrier protein. Binds to some hydrophobic molecules and promotes their transfer between the different cellular sites. Binds with high affinity to alpha-tocopherol. Also binds with a weaker affinity to other tocopherols and to tocotrienols. May have a transcriptional activatory activity via its association with alpha-tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell.',NULL,NULL,NULL,NULL,NULL),(6764,'UniProt Function',NULL,8230,NULL,'High-affinity transporter for the intake of thiamine.',NULL,NULL,NULL,NULL,NULL),(6765,'UniProt Function',NULL,8231,NULL,'S100A8 is a calcium- and zinc-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. It can induce neutrophil chemotaxis and adhesion. Predominantly found as calprotectin (S100A8/A9) which has a wide plethora of intra- and extracellular functions. The intracellular functions include: facilitating leukocyte arachidonic acid trafficking and metabolism, modulation of the tubulin-dependent cytoskeleton during migration of phagocytes and activation of the neutrophilic NADPH-oxidase. Activates NADPH-oxidase by facilitating the enzyme complex assembly at the cell membrane, transferring arachidonic acid, an essential cofactor, to the enzyme complex and S100A8 contributes to the enzyme assembly by directly binding to NCF2/P67PHOX. The extracellular functions involve proinflammatory, antimicrobial, oxidant-scavenging and apoptosis-inducing activities. Its proinflammatory activity includes recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to pattern recognition receptors such as Toll-like receptor 4 (TLR4) and receptor for advanced glycation endproducts (AGER). Binding to TLR4 and AGER activates the MAP-kinase and NF-kappa-B signaling pathways resulting in the amplification of the proinflammatory cascade. Has antimicrobial activity towards bacteria and fungi and exerts its antimicrobial activity probably via chelation of Zn(2+) which is essential for microbial growth. Can induce cell death via autophagy and apoptosis and this occurs through the cross-talk of mitochondria and lysosomes via reactive oxygen species (ROS) and the process involves BNIP3. Can regulate neutrophil number and apoptosis by an anti-apoptotic effect; regulates cell survival via ITGAM/ITGB and TLR4 and a signaling mechanism involving MEK-ERK. Its role as an oxidant scavenger has a protective role in preventing exaggerated tissue damage by scavenging oxidants. Can act as a potent amplifier of inflammation in autoimmunity as well as in cancer development and tumor spread. The iNOS-S100A8/A9 transnitrosylase complex directs selective inflammatory stimulus-dependent S-nitrosylation of GAPDH and probably multiple targets such as ANXA5, EZR, MSN and VIM by recognizing a [IL]-x-C-x-x-[DE] motif; S100A8 seems to contribute to S-nitrosylation site selectivity.',NULL,NULL,NULL,NULL,NULL),(6766,'UniProt Function',NULL,8232,NULL,'Mediates saturable uptake of estrone sulfate, dehydroepiandrosterone sulfate and related compounds.',NULL,NULL,NULL,NULL,NULL),(6767,'UniProt Function',NULL,8233,NULL,'Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides (By similarity).',NULL,NULL,NULL,NULL,NULL),(6768,'UniProt Function',NULL,8236,NULL,'Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET).',NULL,NULL,NULL,NULL,NULL),(6769,'UniProt Function',NULL,8237,NULL,'Putative solute transporter.',NULL,NULL,NULL,NULL,NULL),(6770,'UniProt Function',NULL,8238,NULL,'Putative solute transporter.',NULL,NULL,NULL,NULL,NULL),(6771,'UniProt Function',NULL,8239,NULL,'Putative solute transporter.',NULL,NULL,NULL,NULL,NULL),(6772,'UniProt Function',NULL,8240,NULL,'Organic anion transporter that mediates the uptake of ions.',NULL,NULL,NULL,NULL,NULL),(6773,'UniProt Function',NULL,8241,NULL,'Modulates P53/TP53 protein levels, and thereby plays a role in the regulation of cell survival and apoptosis. Depending on the context, it can promote cell proliferation or apoptosis. Plays a role in the regulation of cell migration by modulating the levels of MMP2, a matrix protease that is under transcriptional control of P53/TP53. Does not bind calcium.',NULL,NULL,NULL,NULL,NULL),(6774,'UniProt Function',NULL,8243,NULL,'Plays a role in acrosome expansion and establishment of normal sperm morphology during spermatogenesis (By similarity). Important for male fertility (PubMed:11870081).',NULL,NULL,NULL,NULL,NULL),(6775,'UniProt Function',NULL,8244,NULL,'Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit mRNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits the formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function.',NULL,NULL,NULL,NULL,NULL),(6776,'UniProt Function',NULL,8246,NULL,'May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF-alpha signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion.',NULL,NULL,NULL,NULL,NULL),(6777,'UniProt Function',NULL,8247,NULL,'May play a role in mRNA processing.',NULL,NULL,NULL,NULL,NULL),(6778,'UniProt Function',NULL,8248,NULL,'Has electrogenic activity in response to glucose, and may function as a glucose sensor (PubMed:13130073, PubMed:17110502, PubMed:20421923, PubMed:22766068). Mediates influx of sodium ions into the cell but does not transport sugars (PubMed:13130073, PubMed:22766068). Also potently activated by imino sugars such as deoxynojirimycin (DNJ) (PubMed:17110502, PubMed:20421923, PubMed:22766068).',NULL,NULL,NULL,NULL,NULL),(6779,'UniProt Function',NULL,8249,NULL,'Required during spermiogenesis to participate in the repression transposable elements and prevent their mobilization, which is essential for the germline integrity. Probably acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for chromatoid body (CB) assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(6780,'UniProt Function',NULL,8250,NULL,'Involved in spermiogenesis, chromatoid body formation and for proper precursor and mature miRNA expression.',NULL,NULL,NULL,NULL,NULL),(6781,'UniProt Function',NULL,8251,NULL,'Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent.',NULL,NULL,NULL,NULL,NULL),(6782,'UniProt Function',NULL,8252,NULL,'Secretogranin-1 is a neuroendocrine secretory granule protein, which may be the precursor for other biologically active peptides.',NULL,NULL,NULL,NULL,NULL),(6783,'UniProt Function',NULL,8253,NULL,'Stearyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates. Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA (PubMed:15907797, PubMed:15610069). Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids.',NULL,NULL,NULL,NULL,NULL),(6784,'UniProt Function',NULL,8254,NULL,'Tetranectin binds to plasminogen and to isolated kringle 4. May be involved in the packaging of molecules destined for exocytosis.',NULL,NULL,NULL,NULL,NULL),(6785,'UniProt Function',NULL,8255,NULL,'This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization.',NULL,NULL,NULL,NULL,NULL),(6786,'UniProt Function',NULL,8256,NULL,'Binds to TGFBR2 and activates TGFB signaling. In lung cancer cells, could serve as an endogenous autocrine and paracrine ligand of TGFBR2, which could regulate TGFBR2 signaling and hence modulate epithelial-mesenchymal transition and cancer progression.',NULL,NULL,NULL,NULL,NULL),(6787,'UniProt Function',NULL,8257,NULL,'This is a receptor for secretin. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.',NULL,NULL,NULL,NULL,NULL),(6788,'UniProt Function',NULL,8258,NULL,'Probable transcription factor.',NULL,NULL,NULL,NULL,NULL),(6789,'UniProt Function',NULL,8259,NULL,'Involved in the functional recruitment of the Sin3-histone deacetylase complex (HDAC) to a specific subset of N-CoR corepressor complexes. Capable of transcription repression by N-CoR. Active in deacetylating core histone octamers (when in a complex) but inactive in deacetylating nucleosomal histones.',NULL,NULL,NULL,NULL,NULL),(6790,'UniProt Function',NULL,8260,NULL,'Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. Specifically mediates the transport of S-adenosylmethionine (SAM) into the mitochondria.',NULL,NULL,NULL,NULL,NULL),(6791,'UniProt Function',NULL,8261,NULL,'May play a role in atherogenesis by immobilizing LDL in the atherial wall.',NULL,NULL,NULL,NULL,NULL),(6792,'UniProt Function',NULL,8262,NULL,'Involved in sodium-dependent transport of D-mannose, D-glucose and D-fructose.',NULL,NULL,NULL,NULL,NULL),(6793,'UniProt Function',NULL,8263,NULL,'Involved in the sodium-dependent cotransport of myo-inositol (MI) with a Na(+):MI stoichiometry of 2:1. Exclusively responsible for apical MI transport and absorption in intestine. Also can transport D-chiro-inositol (DCI) but not L-fructose. Exhibits stereospecific cotransport of both D-glucose and D-xylose. May induce apoptosis through the TNF-alpha, PDCD1 pathway. May play a role in the regulation of MI concentration in serum, involving reabsorption in at least the proximal tubule of the kidney.',NULL,NULL,NULL,NULL,NULL),(6794,'UniProt Function',NULL,8266,NULL,'CCNA2/CDK2 regulatory protein that transiently maintains CCNA2 in the cytoplasm.',NULL,NULL,NULL,NULL,NULL),(6795,'UniProt Function',NULL,8267,NULL,'Escort protein required for cholesterol as well as lipid homeostasis. Regulates export of the SCAP/SREBF complex from the ER upon low cholesterol. Formation of a ternary complex with INSIG at high sterol concentrations leads to masking of an ER-export signal in SCAP and retention of the complex in the ER. Low sterol concentrations trigger release of INSIG, a conformational change in the SSC domain of SCAP, unmasking of the ER export signal, recruitment into COPII-coated vesicles, transport to the Golgi complex, proteolytic cleavage of SREBF in the Golgi, release of the transcription factor fragment of SREBF from the membrane, its import into the nucleus and up-regulation of LDLR, INSIG1 and the mevalonate pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(6796,'UniProt Function',NULL,8268,NULL,'May regulate transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(6797,'UniProt Function',NULL,8271,NULL,'May contribute to specialized endoplasmic reticulum functions in neurons.',NULL,NULL,NULL,NULL,NULL),(6798,'UniProt Function',NULL,8272,NULL,'Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore.',NULL,NULL,NULL,NULL,NULL),(6799,'UniProt Function',NULL,8272,NULL,'As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210).',NULL,NULL,NULL,NULL,NULL),(6800,'UniProt Function',NULL,8273,NULL,'Involved in the degradation process of misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Probably acts by serving as a linker between DERL1, which mediates the retrotranslocation of misfolded proteins into the cytosol, and the ATPase complex VCP, which mediates the translocation and ubiquitination.',NULL,NULL,NULL,NULL,NULL),(6801,'UniProt Function',NULL,8274,NULL,'Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5\'- and 3\'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2\',3\'-cyclic phosphate and 5\'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. Isoform 1 probably carries the active site for 5\'-splice site cleavage. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3\'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3\'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events. Isoform 2 is responsible for processing a yet unknown RNA substrate. The complex containing isoform 2 is not able to cleave pre-tRNAs properly, although it retains endonucleolytic activity.',NULL,NULL,NULL,NULL,NULL),(6802,'UniProt Function',NULL,8275,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair (PubMed:15117943). Component of the TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, SEM1, and either centrin CETN2 or CETN3 (PubMed:22307388). The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery. Binds and stabilizes BRCA2 and is thus involved in the control of R-loop-associated DNA damage and thus transcription-associated genomic instability. R-loop accumulation increases in SEM1-depleted cells.',NULL,NULL,NULL,NULL,NULL),(6803,'UniProt Function',NULL,8276,NULL,'Required for Ca(2+) flux in immune cells and plays a role in T-cell proliferation and in T-cell and neutrophil migration (By similarity). Involved in endoplasmic reticulum-associated degradation (ERAD) of soluble glycosylated proteins (PubMed:22016385). Required for palmitoylation and cell surface expression of CD36 and involved in macrophage uptake of low-density lipoprotein and in foam cell formation (By similarity). Together with ZDHHC6, required for palmitoylation of ITPR1 in immune cells, leading to regulate ITPR1 stability and function (PubMed:25368151). Plays a role in protection of cells from ER stress-induced apoptosis (PubMed:20692228). Protects cells from oxidative stress when overexpressed in cardiomyocytes (PubMed:16962588).',NULL,NULL,NULL,NULL,NULL),(6804,'UniProt Function',NULL,8277,NULL,'Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Binds to the complex neuropilin-1/plexin-1.',NULL,NULL,NULL,NULL,NULL),(6805,'UniProt Function',NULL,8278,NULL,'Might be responsible for some of the extracellular antioxidant defense properties of selenium or might be involved in the transport of selenium. May supply selenium to tissues such as brain and testis.',NULL,NULL,NULL,NULL,NULL),(6806,'UniProt Function',NULL,8279,NULL,'Putative serine hydrolase.',NULL,NULL,NULL,NULL,NULL),(6807,'UniProt Function',NULL,8280,NULL,'Histone methyltransferase involved in left-right axis specification in early development and mitosis. Specifically trimethylates \'Lys-9\' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and segregation during mitosis.',NULL,NULL,NULL,NULL,NULL),(6808,'UniProt Function',NULL,8281,NULL,'Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex, a constituent of the spliceosome (PubMed:10490618, PubMed:10882114, PubMed:27720643, PubMed:28781166). SF3B complex is required for \'A\' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the \'E\' complex (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077).',NULL,NULL,NULL,NULL,NULL),(6809,'UniProt Function',NULL,8282,NULL,'In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration. Enhances the expression of MYO18A/SP-R210 on alveolar macrophages (By similarity).',NULL,NULL,NULL,NULL,NULL),(6810,'UniProt Function',NULL,8282,NULL,'(Microbial infection) Recognition of M.tuberculosis by dendritic cells may occur partially via this molecule (PubMed:17158455, PubMed:21203928). Can recognize, bind, and opsonize pathogens to enhance their elimination by alveolar macrophages (PubMed:21123169).',NULL,NULL,NULL,NULL,NULL),(6811,'UniProt Function',NULL,8283,NULL,'Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for \'A\' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the \'E\' complex. SF3B4 has been found in complex \'B\' and \'C\' as well (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077).',NULL,NULL,NULL,NULL,NULL),(6812,'UniProt Function',NULL,8284,NULL,'May have antimicrobial activity. May also play a role sperm maturation, storage, and protection.',NULL,NULL,NULL,NULL,NULL),(6813,'UniProt Function',NULL,8285,NULL,'Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(6814,'UniProt Function',NULL,8286,NULL,'Potential iron transporter.',NULL,NULL,NULL,NULL,NULL),(6815,'UniProt Function',NULL,8288,NULL,'Potential iron transporter.',NULL,NULL,NULL,NULL,NULL),(6816,'UniProt Function',NULL,8289,NULL,'Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(6817,'UniProt Function',NULL,8290,NULL,'Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(6818,'UniProt Function',NULL,8291,NULL,'Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. May play a role in the maintenance of striated muscle membrane stability (By similarity).',NULL,NULL,NULL,NULL,NULL),(6819,'UniProt Function',NULL,8292,NULL,'Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.',NULL,NULL,NULL,NULL,NULL),(6820,'UniProt Function',NULL,8293,NULL,'Adapter protein which regulates several signal transduction cascades by linking activated receptors to downstream signaling components. May play a role in angiogenesis by regulating FGFR1, VEGFR2 and PDGFR signaling. May also play a role in T-cell antigen receptor/TCR signaling, interleukin-2 signaling, apoptosis and neuronal cells differentiation by mediating basic-FGF and NGF-induced signaling cascades. May also regulate IRS1 and IRS2 signaling in insulin-producing cells.',NULL,NULL,NULL,NULL,NULL),(6821,'UniProt Function',NULL,8294,NULL,'ATPase required during meiosis for the formation of crossover recombination intermediates (By similarity). Binds DNA: preferentially binds to single-stranded DNA and DNA branched structures (PubMed:29742103). Does not show nuclease activity in vitro, but shows ATPase activity, which is stimulated by the presence of single-stranded DNA (PubMed:29742103).',NULL,NULL,NULL,NULL,NULL),(6822,'UniProt Function',NULL,8295,NULL,'Responsible for the synthesis of the sequence NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- found in terminal carbohydrate groups of certain glycoproteins, oligosaccharides and glycolipids. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values.',NULL,NULL,NULL,NULL,NULL),(6823,'UniProt Function',NULL,8296,NULL,'Plays a role in planar mitotic spindle orientation in retinal progenitor cells (RPCs) and promotes the production of symmetric terminal divisions (By similarity). Negatively regulates the mitotic apical cortex localization of GPSM2 (PubMed:26766442). Involved also in positive regulation of cell proliferation and tumor cell growth (PubMed:23576022, PubMed:23704824).',NULL,NULL,NULL,NULL,NULL),(6824,'UniProt Function',NULL,8297,NULL,'Putative androgen-specific receptor.',NULL,NULL,NULL,NULL,NULL),(6825,'UniProt Function',NULL,8299,NULL,'Regulator of STK3/MST2 and STK4/MST1 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. SAV1 is required for STK3/MST2 and STK4/MST1 activation and promotes cell-cycle exit and terminal differentiation in developing epithelial tissues. Plays a role in centrosome disjunction by regulating the localization of NEK2 to centrosomes, and its ability to phosphorylate CROCC and CEP250. In conjunction with STK3/MST2, activates the transcriptional activity of ESR1 through the modulation of its phosphorylation.',NULL,NULL,NULL,NULL,NULL),(6826,'UniProt Function',NULL,8300,NULL,'Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface.',NULL,NULL,NULL,NULL,NULL),(6827,'UniProt Function',NULL,8301,NULL,'Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May play a role in regulation of glycine levels in NMDA receptor-mediated neurotransmission.',NULL,NULL,NULL,NULL,NULL),(6828,'UniProt Function',NULL,8303,NULL,'Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(6829,'UniProt Function',NULL,8304,NULL,'Sodium-dependent glucose transporter. Has a Na(+) to glucose coupling ratio of 1:1.',NULL,NULL,NULL,NULL,NULL),(6830,'UniProt Function',NULL,8304,NULL,'Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules.',NULL,NULL,NULL,NULL,NULL),(6831,'UniProt Function',NULL,8305,NULL,'May be involved in protein transport.',NULL,NULL,NULL,NULL,NULL),(6832,'UniProt Function',NULL,8306,NULL,'Mediates iodide uptake in the thyroid gland.',NULL,NULL,NULL,NULL,NULL),(6833,'UniProt Function',NULL,8307,NULL,'Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface.',NULL,NULL,NULL,NULL,NULL),(6834,'UniProt Function',NULL,8308,NULL,'Acts as a molecular scaffold that plays a key role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:17192411, PubMed:17005010, PubMed:17428803, PubMed:21768384, PubMed:22355596). Mediates the recruitment of MIA3/TANGO to ERES (PubMed:28442536). Regulates both conventional (ER/Golgi-dependent) and GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane (PubMed:28067262). Positively regulates the protein stability of E3 ubiquitin-protein ligases RNF152 and RNF183 and the ER localization of RNF183 (PubMed:29300766). Acts as a RAB10 effector in the regulation of insulin-induced SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the cell membrane in adipocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(6835,'UniProt Function',NULL,8309,NULL,'ATP-binding RNA helicase required during spermatogenesis (PubMed:28536242). Required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Acts downstream of piRNA biogenesis: exclusively required for transposon silencing in the nucleus, suggesting that it acts as a nuclear effector in the nucleus together with PIWIL4.',NULL,NULL,NULL,NULL,NULL),(6836,'UniProt Function',NULL,8310,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(6837,'UniProt Function',NULL,8311,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(6838,'UniProt Function',NULL,8312,NULL,'Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) (PubMed:10788476). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity).',NULL,NULL,NULL,NULL,NULL),(6839,'UniProt Function',NULL,8314,NULL,'Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity).',NULL,NULL,NULL,NULL,NULL),(6840,'UniProt Function',NULL,8315,NULL,'Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with NFASC may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons.',NULL,NULL,NULL,NULL,NULL),(6841,'UniProt Function',NULL,8315,NULL,'Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(6842,'UniProt Function',NULL,8316,NULL,'Nucleotidyltransferase that act as a non-canonical poly(A) RNA polymerase which enhances mRNA stability and gene expression. Mainly targets mRNAs encoding endoplasmic reticulum-targeted protein and may be involved in induction of cell death.',NULL,NULL,NULL,NULL,NULL),(6843,'UniProt Function',NULL,8316,NULL,'(Microbial infection) Seems to enhance replication of some viruses, including yellow fever virus, in response to type I interferon.',NULL,NULL,NULL,NULL,NULL),(6844,'UniProt Function',NULL,8317,NULL,'Could function as an adhesive molecule and its matrix bound and soluble fragments may play a critical role in vascular biology.',NULL,NULL,NULL,NULL,NULL),(6845,'UniProt Function',NULL,8318,NULL,'Lipid-binding protein required for SHH long-range signaling by binding to the dually lipid-modified SHH (ShhNp) and by promoting ShhNp mobilization, solubilization and release from the cell membrane (PubMed:22902404, PubMed:22677548). Acts by enhancing the proteolytic processing (shedding) of the lipid-modified N- and C- terminal of ShhNp at the cell surface (PubMed:24522195). Synergizes with DISP1 to increase SHH secretion (PubMed:22902404). Probable cell surface coreceptor for VEGFR2 involved in VEGFR2-mediated angiogenesis (PubMed:27834687).',NULL,NULL,NULL,NULL,NULL),(6846,'UniProt Function',NULL,8319,NULL,'Required during spermatogenesis and placenta development, participating in the repression of retrotransposable elements and prevent their mobilization. Collaborates with the Piwi-interacting RNA (piRNA) pathway, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins. Interacts with Piwi proteins and directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Also during spermatogenesis, promotes, with UBR2, SPO11-dependent recombination foci to accumulate and drive robust homologous chromosome synapsis (By similarity). Interacts with LINE-1 retrotransposon encoded LIRE1, stimulates LIRE1 polyubiquitination, mediated by UBR2, and degradation, inhibiting LINE-1 retranstoposon mobilization (PubMed:28806172).',NULL,NULL,NULL,NULL,NULL),(6847,'UniProt Function',NULL,8320,NULL,'Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants. May act together with SDHAF3.',NULL,NULL,NULL,NULL,NULL),(6848,'UniProt Function',NULL,8321,NULL,'Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.',NULL,NULL,NULL,NULL,NULL),(6849,'UniProt Function',NULL,8322,NULL,'Regulatory protein which represses transcription and augments histone deacetylase activity of HDAC1. May have a potential role in tumor suppressor pathways through regulation of apoptosis. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes.',NULL,NULL,NULL,NULL,NULL),(6850,'UniProt Function',NULL,8323,NULL,'Binds to the SECIS element in the 3\'-UTR of some mRNAs encoding selenoproteins. Binding is stimulated by SELB.',NULL,NULL,NULL,NULL,NULL),(6851,'UniProt Function',NULL,8324,NULL,'Probable serine hydrolase. May be related to cell muscle hypertrophy.',NULL,NULL,NULL,NULL,NULL),(6852,'UniProt Function',NULL,8325,NULL,'Has chemorepulsive activities for sympathetic axons. Ligand of NRP2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(6853,'UniProt Function',NULL,8326,NULL,'Selenoprotein with thioredoxin reductase-like oxidoreductase activity (By similarity). Protects dopaminergic neurons against oxidative stress ans cell death (PubMed:26866473). Involved in ADCYAP1/PACAP-induced calcium mobilization and neuroendocrine secretion (By similarity). Plays a role in fibroblast anchorage and redox regulation (By similarity). In gastric smooth muscle, modulates the contraction processes through the regulation of calcium release and MYLK activation (By similarity). In pancreatic islets, involved in the control of glucose homeostasis, contributes to prolonged ADCYAP1/PACAP-induced insulin secretion (By similarity).',NULL,NULL,NULL,NULL,NULL),(6854,'UniProt Function',NULL,8327,NULL,'Isoform 2: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (-SH), thus restoring ATP2A2 activity (PubMed:25452428). Acts as a modulator of ryanodine receptor (RyR) activity: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization required for normal muscle development and differentiation (PubMed:19557870, PubMed:18713863).',NULL,NULL,NULL,NULL,NULL),(6855,'UniProt Function',NULL,8327,NULL,'Essential for muscle regeneration and satellite cell maintenance in skeletal muscle (PubMed:21131290).',NULL,NULL,NULL,NULL,NULL),(6856,'UniProt Function',NULL,8328,NULL,'Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).',NULL,NULL,NULL,NULL,NULL),(6857,'UniProt Function',NULL,8329,NULL,'Induces the collapse and paralysis of neuronal growth cones. Could potentially act as repulsive cues toward specific neuronal populations. Binds to neuropilin (By similarity).',NULL,NULL,NULL,NULL,NULL),(6858,'UniProt Function',NULL,8330,NULL,'Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion (By similarity).',NULL,NULL,NULL,NULL,NULL),(6859,'UniProt Function',NULL,8332,NULL,'Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine.',NULL,NULL,NULL,NULL,NULL),(6860,'UniProt Function',NULL,8333,NULL,'Subunit of the splicing factor SF3A required for \'A\' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the \'E\' complex.',NULL,NULL,NULL,NULL,NULL),(6861,'UniProt Function',NULL,8334,NULL,'Histone methyltransferase that specifically trimethylates \'Lys-36\' of histone H3 (H3K36me3) using dimethylated \'Lys-36\' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439). Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A (PubMed:23325844). Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction (PubMed:23622243). Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR) (PubMed:24843002). Acts as a tumor suppressor (PubMed:24509477). H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A (PubMed:27317772). H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase (PubMed:21792193). Required during angiogenesis (By similarity). Required for endoderm development by promoting embryonic stem cell differentiation toward endoderm: acts by mediating formation of H3K36me3 in distal promoter regions of FGFR3, leading to regulate transcription initiation of FGFR3 (By similarity). In addition to histones, also mediates methylation of other proteins, such as tubulins and STAT1 (PubMed:27518565, PubMed:28753426). Trimethylates \'Lys-40\' of alpha-tubulins such as TUBA1B (alpha-TubK40me3); alpha-TubK40me3 is required for normal mitosis and cytokinesis and may be a specific tag in cytoskeletal remodeling (PubMed:27518565). Involved in interferon-alpha-induced antiviral defense by mediating both monomethylation of STAT1 at \'Lys-525\' and catalyzing H3K36me3 on promoters of some interferon-stimulated genes (ISGs) to activate gene transcription (PubMed:28753426).',NULL,NULL,NULL,NULL,NULL),(6862,'UniProt Function',NULL,8334,NULL,'(Microbial infection) Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression.',NULL,NULL,NULL,NULL,NULL),(6863,'UniProt Function',NULL,8336,NULL,'High affinity carnitine transporter; the uptake is partially sodium-ion dependent. Thought to mediate the L-carnitine secretion mechanism from testis epididymal epithelium into the lumen which is involved in the maturation of spermatozoa. Also transports organic cations such as tetraethylammonium (TEA) and doxorubicin. The uptake of TEA is inhibited by various organic cations. The uptake of doxorubicin is sodium-independent.',NULL,NULL,NULL,NULL,NULL),(6864,'UniProt Function',NULL,8337,NULL,'Putative transporter.',NULL,NULL,NULL,NULL,NULL),(6865,'UniProt Function',NULL,8338,NULL,'Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.',NULL,NULL,NULL,NULL,NULL),(6866,'UniProt Function',NULL,8339,NULL,'Plays a role in the export of proteins that lack a signal peptide and are secreted by an alternative pathway. Binds two calcium ions per subunit. Binds one copper ion. Binding of one copper ion does not interfere with calcium binding. Required for the copper-dependent stress-induced export of IL1A and FGF1. The calcium-free protein binds to lipid vesicles containing phosphatidylserine, but not to vesicles containing phosphatidylcholine (By similarity).',NULL,NULL,NULL,NULL,NULL),(6867,'UniProt Function',NULL,8341,NULL,'May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function.',NULL,NULL,NULL,NULL,NULL),(6868,'UniProt Function',NULL,8343,NULL,'Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function.',NULL,NULL,NULL,NULL,NULL),(6869,'UniProt Function',NULL,8345,NULL,'Putative transporter.',NULL,NULL,NULL,NULL,NULL),(6870,'UniProt Function',NULL,8346,NULL,'Solute transporter for tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, N-methylnicotinamide, metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, and ganciclovir. Responsible for the secretion of cationic drugs across the brush border membranes.',NULL,NULL,NULL,NULL,NULL),(6871,'UniProt Function',NULL,8347,NULL,'May regulate the electrogenic sodium/bicarbonate cotransporter SLC4A4 activity and Mg(2+)-sensitivity. On the contrary of its homolog AHCYL1, does not regulate ITPR1 sensitivity to inositol 1,4,5-trisphosphate (PubMed:19220705).',NULL,NULL,NULL,NULL,NULL),(6872,'UniProt Function',NULL,8348,NULL,'Transcriptional repressor involved in organogenesis.',NULL,NULL,NULL,NULL,NULL),(6873,'UniProt Function',NULL,8349,NULL,'Reversibly inhibits the activity of ATP2A1 in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in muscle. Required for muscle-based, non-shivering thermogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(6874,'UniProt Function',NULL,8350,NULL,'Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. May also function as a calcium-dependent lectin.',NULL,NULL,NULL,NULL,NULL),(6875,'UniProt Function',NULL,8353,NULL,'Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence.',NULL,NULL,NULL,NULL,NULL),(6876,'UniProt Function',NULL,8354,NULL,'DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:29174768, PubMed:26917986, PubMed:27035640, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761).',NULL,NULL,NULL,NULL,NULL),(6877,'UniProt Function',NULL,8355,NULL,'As a component of the coat protein complex II (COPII), may function in vesicle budding and cargo export from the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(6878,'UniProt Function',NULL,8356,NULL,'Probable ATP-binding RNA helicase required during spermatogenesis to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the secondary piRNAs metabolic process. Acts via the PET complex, a multiprotein complex required during the secondary piRNAs metabolic process for the PIWIL2 slicing-triggered loading of PIWIL4 piRNAs.',NULL,NULL,NULL,NULL,NULL),(6879,'UniProt Function',NULL,8357,NULL,'Acts as an electroneutral and low-affinity sodium (Na(+))-dependent sodium-coupled solute transporter. Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D-hydroxybutyrate. May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina (By similarity). Mediates electroneutral uptake of lactate, with a stoichiometry of 2 Na(+) for each lactate (By similarity).',NULL,NULL,NULL,NULL,NULL),(6880,'UniProt Function',NULL,8358,NULL,'Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals.',NULL,NULL,NULL,NULL,NULL),(6881,'UniProt Function',NULL,8359,NULL,'Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signaling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. KITLG/SCF and KIT also transmit signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. KITLG/SCF and KIT promote activation of STAT family members STAT1, STAT3 and STAT5. KITLG/SCF and KIT promote activation of PLCG1, leading to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KITLG/SCF acts synergistically with other cytokines, probably interleukins.',NULL,NULL,NULL,NULL,NULL),(6882,'UniProt Function',NULL,8360,NULL,'Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(6883,'UniProt Function',NULL,8361,NULL,'Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:17192411, PubMed:21768384, PubMed:22355596). Involved in peroxisome biogenesis. Regulates the transport of peroxisomal biogenesis factors PEX3 and PEX16 from the ER to peroxisomes (PubMed:21768384).',NULL,NULL,NULL,NULL,NULL),(6884,'UniProt Function',NULL,8362,NULL,'Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:17499046, PubMed:20427317, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24A may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes (PubMed:17499046, PubMed:18843296).',NULL,NULL,NULL,NULL,NULL),(6885,'UniProt Function',NULL,8363,NULL,'This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1309946, PubMed:21447824, PubMed:25370050, PubMed:23420830, PubMed:23085483, PubMed:26279430, PubMed:26392562, PubMed:26776555). It is a tetrodotoxin-resistant Na(+) channel isoform (PubMed:1309946). This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels (PubMed:19074138).',NULL,NULL,NULL,NULL,NULL),(6886,'UniProt Function',NULL,8364,NULL,'Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Plays a role in neuropathic pain mechanisms.',NULL,NULL,NULL,NULL,NULL),(6887,'UniProt Function',NULL,8366,NULL,'Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (PubMed:22872859). Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit (PubMed:21326211).',NULL,NULL,NULL,NULL,NULL),(6888,'UniProt Function',NULL,8367,NULL,'Scaffold protein involved in different aspects of polarized cells differentiation regulating epithelial and neuronal morphogenesis. Most probably functions in the establishment of apico-basal cell polarity. May function in cell proliferation regulating progression from G1 to S phase and as a positive regulator of apoptosis for instance during acinar morphogenesis of the mammary epithelium. May also function in cell migration and adhesion and hence regulate cell invasion through MAPK signaling. May play a role in exocytosis and in the targeting synaptic vesicles to synapses. Functions as an activator of Rac GTPase activity.',NULL,NULL,NULL,NULL,NULL),(6889,'UniProt Function',NULL,8369,NULL,'Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:24157691, PubMed:28235671, PubMed:29466837). May contribute to the regulation of serotonin/5-hydroxytryptamine release by enterochromaffin cells (By similarity). In pancreatic endocrine cells, required for both glucagon and glucose-induced insulin secretion (By similarity).',NULL,NULL,NULL,NULL,NULL),(6890,'UniProt Function',NULL,8371,NULL,'Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.',NULL,NULL,NULL,NULL,NULL),(6891,'UniProt Function',NULL,8371,NULL,'(Microbial infection) Acts as a receptor for enterovirus 71.',NULL,NULL,NULL,NULL,NULL),(6892,'UniProt Function',NULL,8372,NULL,'Component of AP2-containing clathrin coated structures at the plasma membrane or of endocytic coated vesicles. According to PubMed:15809293, probable serine/threonine-protein kinase that phosphorylates, in vitro, the beta2-subunit of the plasma membrane adapter complex AP2 and other proteins in presence of poly-L-lysine. According to PubMed:16914521, has no detectable kinase activity in vitro. May regulate clathrin-dependent trafficking between the TGN and/or the endosomal system.',NULL,NULL,NULL,NULL,NULL),(6893,'UniProt Function',NULL,8373,NULL,'Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. The N-terminus of GTF2H2 interacts with and regulates XPD whereas an intact C-terminus is required for a successful escape of RNAP II form the promoter.',NULL,NULL,NULL,NULL,NULL),(6894,'UniProt Function',NULL,8374,NULL,'Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.',NULL,NULL,NULL,NULL,NULL),(6895,'UniProt Function',NULL,8376,NULL,'May contribute to specialized endoplasmic reticulum functions in neurons.',NULL,NULL,NULL,NULL,NULL),(6896,'UniProt Function',NULL,8379,NULL,'Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.',NULL,NULL,NULL,NULL,NULL),(6897,'UniProt Function',NULL,8380,NULL,'Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption (PubMed:21613606, PubMed:22009145). Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(6898,'UniProt Function',NULL,8381,NULL,'Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids.',NULL,NULL,NULL,NULL,NULL),(6899,'UniProt Function',NULL,8382,NULL,'S100A9 is a calcium- and zinc-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. It can induce neutrophil chemotaxis, adhesion, can increase the bactericidal activity of neutrophils by promoting phagocytosis via activation of SYK, PI3K/AKT, and ERK1/2 and can induce degranulation of neutrophils by a MAPK-dependent mechanism. Predominantly found as calprotectin (S100A8/A9) which has a wide plethora of intra- and extracellular functions. The intracellular functions include: facilitating leukocyte arachidonic acid trafficking and metabolism, modulation of the tubulin-dependent cytoskeleton during migration of phagocytes and activation of the neutrophilic NADPH-oxidase. Activates NADPH-oxidase by facilitating the enzyme complex assembly at the cell membrane, transferring arachidonic acid, an essential cofactor, to the enzyme complex and S100A8 contributes to the enzyme assembly by directly binding to NCF2/P67PHOX. The extracellular functions involve proinflammatory, antimicrobial, oxidant-scavenging and apoptosis-inducing activities. Its proinflammatory activity includes recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to pattern recognition receptors such as Toll-like receptor 4 (TLR4) and receptor for advanced glycation endproducts (AGER). Binding to TLR4 and AGER activates the MAP-kinase and NF-kappa-B signaling pathways resulting in the amplification of the proinflammatory cascade. Has antimicrobial activity towards bacteria and fungi and exerts its antimicrobial activity probably via chelation of Zn(2+) which is essential for microbial growth. Can induce cell death via autophagy and apoptosis and this occurs through the cross-talk of mitochondria and lysosomes via reactive oxygen species (ROS) and the process involves BNIP3. Can regulate neutrophil number and apoptosis by an anti-apoptotic effect; regulates cell survival via ITGAM/ITGB and TLR4 and a signaling mechanism involving MEK-ERK. Its role as an oxidant scavenger has a protective role in preventing exaggerated tissue damage by scavenging oxidants. Can act as a potent amplifier of inflammation in autoimmunity as well as in cancer development and tumor spread. Has transnitrosylase activity; in oxidatively-modified low-densitity lipoprotein (LDL(ox))-induced S-nitrosylation of GAPDH on \'Cys-247\' proposed to transfer the NO moiety from NOS2/iNOS to GAPDH via its own S-nitrosylated Cys-3. The iNOS-S100A8/A9 transnitrosylase complex is proposed to also direct selective inflammatory stimulus-dependent S-nitrosylation of multiple targets such as ANXA5, EZR, MSN and VIM by recognizing a [IL]-x-C-x-x-[DE] motif.',NULL,NULL,NULL,NULL,NULL),(6900,'UniProt Function',NULL,8383,NULL,'Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.',NULL,NULL,NULL,NULL,NULL),(6901,'UniProt Function',NULL,8384,NULL,'Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva.',NULL,NULL,NULL,NULL,NULL),(6902,'UniProt Function',NULL,8385,NULL,'Involved in vesicular storage and exocytosis of ATP. May accumulate ATP and other nucleotides in secretory vesicles such as adrenal chromaffin granules and synaptic vesicles.',NULL,NULL,NULL,NULL,NULL),(6903,'UniProt Function',NULL,8387,NULL,'Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability (By similarity).',NULL,NULL,NULL,NULL,NULL),(6904,'UniProt Function',NULL,8388,NULL,'Mediates the ATP-dependent import of long-chain fatty acids (LCFA) into the cell by mediating their translocation at the plasma membrane (PubMed:28178239). Has also an acyl-CoA ligase activity for long-chain and very-long-chain fatty acids. May act directly as a bona fide transporter, or alternatively, in a cytoplasmic or membrane-associated multimeric protein complex to trap and draw fatty acids towards accumulation. Plays a pivotal role in regulating available LCFA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation or triglyceride synthesis. May be involved in regulation of cholesterol metabolism (By similarity).',NULL,NULL,NULL,NULL,NULL),(6905,'UniProt Function',NULL,8389,NULL,'Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm into the endoplasmic reticulum lumen (PubMed:11322953, PubMed:17952091). Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity).',NULL,NULL,NULL,NULL,NULL),(6906,'UniProt Function',NULL,8390,NULL,'Putative transporter.',NULL,NULL,NULL,NULL,NULL),(6907,'UniProt Function',NULL,8391,NULL,'Solute transporter for tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, N-methylnicotinamide (NMN), metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, ganciclovir and also the zwitterionic cephalosporin, cephalexin and cephradin. Seems to also play a role in the uptake of oxaliplatin (a new platinum anticancer agent). Able to transport paraquat (PQ or N,N-dimethyl-4-4\'-bipiridinium); a widely used herbicid. Responsible for the secretion of cationic drugs across the brush border membranes.',NULL,NULL,NULL,NULL,NULL),(6908,'UniProt Function',NULL,8392,NULL,'Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids. Does not exhibit fatty acid transport activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(6909,'UniProt Function',NULL,8393,NULL,'Putative transporter.',NULL,NULL,NULL,NULL,NULL),(6910,'UniProt Function',NULL,8394,NULL,'Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology.',NULL,NULL,NULL,NULL,NULL),(6911,'UniProt Function',NULL,8395,NULL,'Putative sodium-dependent amino acid/proton antiporter.',NULL,NULL,NULL,NULL,NULL),(6912,'UniProt Function',NULL,8397,NULL,'Acts as a zinc-influx transporter.',NULL,NULL,NULL,NULL,NULL),(6913,'UniProt Function',NULL,8398,NULL,'Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH.',NULL,NULL,NULL,NULL,NULL),(6914,'UniProt Function',NULL,8398,NULL,'Isoform 2: May have a higher activity than isoform 1.',NULL,NULL,NULL,NULL,NULL),(6915,'UniProt Function',NULL,8400,NULL,'Putative transporter.',NULL,NULL,NULL,NULL,NULL),(6916,'UniProt Function',NULL,8401,NULL,'Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling termination through GABA uptake. May also be involved in beta-alanine transport.',NULL,NULL,NULL,NULL,NULL),(6917,'UniProt Function',NULL,8402,NULL,'Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner.',NULL,NULL,NULL,NULL,NULL),(6918,'UniProt Function',NULL,8403,NULL,'Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation.',NULL,NULL,NULL,NULL,NULL),(6919,'UniProt Function',NULL,8404,NULL,'Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.',NULL,NULL,NULL,NULL,NULL),(6920,'UniProt Function',NULL,8405,NULL,'May play a role in photoreceptor development.',NULL,NULL,NULL,NULL,NULL),(6921,'UniProt Function',NULL,8406,NULL,'Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence.',NULL,NULL,NULL,NULL,NULL),(6922,'UniProt Function',NULL,8407,NULL,'Involved in the regulation of gene expression in the retina. It functions as a negative regulator of CRX-controlled genes.',NULL,NULL,NULL,NULL,NULL),(6923,'UniProt Function',NULL,8408,NULL,'May be involved in vesicle transport between the ER and the Golgi complex.',NULL,NULL,NULL,NULL,NULL),(6924,'UniProt Function',NULL,8409,NULL,'Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer.',NULL,NULL,NULL,NULL,NULL),(6925,'UniProt Function',NULL,8410,NULL,'Multifunctional adapter protein involved in diverse array of functions including trafficking of transmembrane proteins, neuro and immunomodulation, exosome biogenesis, and tumorigenesis (PubMed:26291527). Positively regulates TGFB1-mediated SMAD2/3 activation and TGFB1-induced epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types. May increase TGFB1 signaling by enhancing cell-surface expression of TGFR1 by preventing the interaction between TGFR1 and CAV1 and subsequent CAV1-dependent internalization and degradation of TGFR1 (PubMed:25893292). In concert with SDC1/4 and PDCD6IP, regulates exosome biogenesis (PubMed:22660413). Regulates migration, growth, proliferation, and cell cycle progression in a variety of cancer types (PubMed:26539120). In adherens junctions may function to couple syndecans to cytoskeletal proteins or signaling components. Seems to couple transcription factor SOX4 to the IL-5 receptor (IL5RA) (PubMed:11498591). May also play a role in vesicular trafficking (PubMed:11179419). Seems to be required for the targeting of TGFA to the cell surface in the early secretory pathway (PubMed:10230395).',NULL,NULL,NULL,NULL,NULL),(6926,'UniProt Function',NULL,8411,NULL,'Adhesion molecule that promotes lamina-specific synaptic connections in the retina and is specifically required for the formation of neuronal circuits that detect motion. Acts by promoting formation of synapses between two specific retinal cell types: the retinal ganglion cells W3B-RGCs and the excitatory amacrine cells VG3-ACs. Formation of synapses between these two cells plays a key role in detection of motion. Promotes synaptic connectivity via homophilic interactions.',NULL,NULL,NULL,NULL,NULL),(6927,'UniProt Function',NULL,8412,NULL,'As part of a SNARE complex may be involved in endoplasmic reticulum membranes fusion and be required for the maintenance of endoplasmic reticulum organization (PubMed:15272311). Plays also a role in apoptosis (PubMed:7954800, PubMed:15272311, PubMed:23896122). It is for instance required for endoplasmic reticulum stress-induced apoptosis (PubMed:23896122). As a substrate of RNF185 interacting with SQSTM1, might also be involved in mitochondrial autophagy (Probable).',NULL,NULL,NULL,NULL,NULL),(6928,'UniProt Function',NULL,8413,NULL,'Functions as a component of the nuclear pore complex (NPC) and the COPII coat. At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles (PubMed:8972206). Required for the exit of adipsin (CFD/ADN), an adipocyte-secreted protein from the endoplasmic reticulum (By similarity).',NULL,NULL,NULL,NULL,NULL),(6929,'UniProt Function',NULL,8413,NULL,'As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210).',NULL,NULL,NULL,NULL,NULL),(6930,'UniProt Function',NULL,8414,NULL,'Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5\'- and 3\'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2\',3\'-cyclic phosphate and 5\'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. It probably carries the active site for 3\'-splice site cleavage. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3\'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3\'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events.',NULL,NULL,NULL,NULL,NULL),(6931,'UniProt Function',NULL,8415,NULL,'Protease that catalyzes two essential functions in the SUMO pathway (PubMed:10652325, PubMed:15199155, PubMed:16253240, PubMed:16553580, PubMed:21829689, PubMed:21965678, PubMed:23160374, PubMed:24943844, PubMed:25406032, PubMed:29506078). The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. Deconjugates SUMO1 from HIPK2 (PubMed:16253240). Deconjugates SUMO1 from HDAC1 and BHLHE40/DEC1, which decreases its transcriptional repression activity (PubMed:21829689). Deconjugates SUMO1 from CLOCK, which decreases its transcriptional activation activity (PubMed:23160374). Deconjugates SUMO2 from MTA1 (PubMed:21965678). Deconjugates SUMO1 from METTL3 (PubMed:29506078). Desumoylates CCAR2 which decreases its interaction with SIRT1 (PubMed:25406032). Deconjugates SUMO1 from GPS2 (PubMed:24943844).',NULL,NULL,NULL,NULL,NULL),(6932,'UniProt Function',NULL,8417,NULL,'Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport, such as absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. May play a role in extracellular matrix and cartilage calcification as well as in vascular calcification.',NULL,NULL,NULL,NULL,NULL),(6933,'UniProt Function',NULL,8417,NULL,'(Microbial infection) May function as a retroviral receptor as it confers human cells susceptibility to infection to Gibbon Ape Leukemia Virus (GaLV), Simian sarcoma-associated virus (SSAV) and Feline leukemia virus subgroup B (FeLV-B) as well as 10A1 murine leukemia virus (10A1 MLV).',NULL,NULL,NULL,NULL,NULL),(6934,'UniProt Function',NULL,8418,NULL,'DIDS- and thiosulfate- sensitive anion exchanger mediating chloride, sulfate and oxalate transport. Mediates chloride/bicarbonate exchange or chloride-independent bicarbonate extrusion thus assuring bicarbonate secretion. Inhibited by ammonium and thiosulfate.',NULL,NULL,NULL,NULL,NULL),(6935,'UniProt Function',NULL,8419,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(6936,'UniProt Function',NULL,8420,NULL,'Involved in the transcriptional repression mediated by the mSIN3A but not the N-CoR corepressor complex.',NULL,NULL,NULL,NULL,NULL),(6937,'UniProt Function',NULL,8421,NULL,'Binds both single-stranded and double-stranded DNA with higher affinity for the single-stranded form. Specifically binds to scaffold/matrix attachment region DNA. Also binds single-stranded RNA. Enhances RNA unwinding activity of DDX39A. May participate in important transcriptional or translational control of cell growth, metabolism and carcinogenesis. Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5\' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi\'s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production.',NULL,NULL,NULL,NULL,NULL),(6938,'UniProt Function',NULL,8423,NULL,'Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine > spermidine = spermine >> N(1)acetylspermine = putrescine.',NULL,NULL,NULL,NULL,NULL),(6939,'UniProt Function',NULL,8424,NULL,'Negative regulator of B-cell activation. Down-regulates cell proliferation (in vitro). Promotes RAC1-dependent membrane ruffle formation and reorganization of the actin cytoskeleton. Regulates cell spreading and cell polarization. Stimulates HDAC1 activity. Regulates LYN activity by modulating its tyrosine phosphorylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6940,'UniProt Function',NULL,8425,NULL,'Probably involved in membrane protein trafficking.',NULL,NULL,NULL,NULL,NULL),(6941,'UniProt Function',NULL,8426,NULL,'Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.',NULL,NULL,NULL,NULL,NULL),(6942,'UniProt Function',NULL,8427,NULL,'Transports pantothenate, biotin and lipoate in the presence of sodium.',NULL,NULL,NULL,NULL,NULL),(6943,'UniProt Function',NULL,8428,NULL,'Required for 60S pre-ribosomal subunits export to the cytoplasm.',NULL,NULL,NULL,NULL,NULL),(6944,'UniProt Function',NULL,8429,NULL,'Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants. May act together with SDHAF1.',NULL,NULL,NULL,NULL,NULL),(6945,'UniProt Function',NULL,8430,NULL,'Has low serine dehydratase and threonine dehydratase activity.',NULL,NULL,NULL,NULL,NULL),(6946,'UniProt Function',NULL,8431,NULL,'Mediates cotranslational and post-translational transport of certain precursor polypeptides across endoplasmic reticulum (ER) (PubMed:22375059, PubMed:29719251). Proposed to play an auxiliary role in recognition of precursors with short and apolar signal peptides. May cooperate with SEC62 and HSPA5/BiP to facilitate targeting of small presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen (PubMed:29719251). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity).',NULL,NULL,NULL,NULL,NULL),(6947,'UniProt Function',NULL,8433,NULL,'Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons.',NULL,NULL,NULL,NULL,NULL),(6948,'UniProt Function',NULL,8434,NULL,'Bifunctional axonal guidance cue regulated by sulfated proteoglycans; attractive effects result from interactions with heparan sulfate proteoglycans (HSPGs), while the inhibitory effects depend on interactions with chondroitin sulfate proteoglycans (CSPGs) (By similarity). Ligand for receptor PLXNB3. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of RAC1. May promote angiogenesis by increasing endothelial cell proliferation and migration and inhibiting apoptosis.',NULL,NULL,NULL,NULL,NULL),(6949,'UniProt Function',NULL,8435,NULL,'Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and plays an important role in axon guidance in the developing central nervous system. Can act as repulsive axon guidance cue. Has repulsive action towards migrating granular neurons. May play a role in channeling sympathetic axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation (By similarity).',NULL,NULL,NULL,NULL,NULL),(6950,'UniProt Function',NULL,8436,NULL,'Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of proinflammatory cytokines by monocytes and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses. Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in melanocytes.',NULL,NULL,NULL,NULL,NULL),(6951,'UniProt Function',NULL,8437,NULL,'Filament-forming cytoskeletal GTPase (By similarity). May play a role in platelet secretion (PubMed:15116257). Seems to participate in the process of SNARE complex formation in synaptic vesicles (By similarity).',NULL,NULL,NULL,NULL,NULL),(6952,'UniProt Function',NULL,8437,NULL,'Isoform 4: Stabilizes BACE1 protein levels and promotes the sorting and accumulation of BACE1 to the recycling or endosomal compartments, modulating the beta-amyloidogenic processing of APP.',NULL,NULL,NULL,NULL,NULL),(6953,'UniProt Function',NULL,8439,NULL,'Acts as a sodium-independent DIDS-sensitive anion exchanger mediating bicarbonate, chloride, sulfate and oxalate transport. May play a role in the maintenance of the electrolyte and acid-base homeostasis in the kidney, by acting as a distal excretory segment-specific anion exchanger. Plays a major role in gastric acid secretion.',NULL,NULL,NULL,NULL,NULL),(6954,'UniProt Function',NULL,8440,NULL,'Acts as a DIDS-sensitive anion exchanger mediating chloride, sulfate and oxalate transport. May fulfill critical anion exchange functions in male germ line during meiosis and hence may play a role in spermatogenesis. May be involved in a new regulatory pathway linking sulfate transport to RhoGTPase signaling in male germ cells. A critical component of the sperm annulus that is essential for correct sperm tail differentiation and motility and hence male fertility. May form a molecular complex involved in the regulation of chloride and bicarbonate ions fluxes during sperm capacitation.',NULL,NULL,NULL,NULL,NULL),(6955,'UniProt Function',NULL,8442,NULL,'Probable sodium-dependent amino acid/proton antiporter, could be a neuronal transporter for glutamate.',NULL,NULL,NULL,NULL,NULL),(6956,'UniProt Function',NULL,8443,NULL,'Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function.',NULL,NULL,NULL,NULL,NULL),(6957,'UniProt Function',NULL,8444,NULL,'Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.',NULL,NULL,NULL,NULL,NULL),(6958,'UniProt Function',NULL,8445,NULL,'May play a role in the regulation of cilium length. Stabilizes microtubules at low temperature.',NULL,NULL,NULL,NULL,NULL),(6959,'UniProt Function',NULL,8446,NULL,'Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER).',NULL,NULL,NULL,NULL,NULL),(6960,'UniProt Function',NULL,8447,NULL,'Prevents intracellular accumulation of high concentrations of myo-inositol (an osmolyte) that result in impairment of cellular function.',NULL,NULL,NULL,NULL,NULL),(6961,'UniProt Function',NULL,8448,NULL,'Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex.',NULL,NULL,NULL,NULL,NULL),(6962,'UniProt Function',NULL,8449,NULL,'Serotonin transporter whose primary function in the central nervous system involves the regulation of serotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner.',NULL,NULL,NULL,NULL,NULL),(6963,'UniProt Function',NULL,8450,NULL,'Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:10214955, PubMed:17499046, PubMed:18843296, PubMed:20427317). Plays a central role in cargo selection within the COPII complex and together with SEC24D may have a different specificity compared to SEC24A and SEC24B (PubMed:17499046, PubMed:20427317, PubMed:18843296). May more specifically package GPI-anchored proteins through the cargo receptor TMED10 (PubMed:20427317). May also be specific for IxM motif-containing cargos like the SNAREs GOSR2 and STX5 (PubMed:18843296).',NULL,NULL,NULL,NULL,NULL),(6964,'UniProt Function',NULL,8451,NULL,'Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:17499046, PubMed:20427317, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24C may have a different specificity compared to SEC24A and SEC24B (PubMed:17499046, PubMed:20427317, PubMed:18843296). May more specifically package GPI-anchored proteins through the cargo receptor TMED10 (PubMed:20427317). May also be specific for IxM motif-containing cargos like the SNAREs GOSR2 and STX5 (PubMed:18843296).',NULL,NULL,NULL,NULL,NULL),(6965,'UniProt Function',NULL,8453,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(6966,'UniProt Function',NULL,8454,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(6967,'UniProt Function',NULL,8455,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(6968,'UniProt Function',NULL,8456,NULL,'Associates with Polycomb group (PcG) multiprotein complexes; the complex class is required to maintain the transcriptionally repressive state of some genes.',NULL,NULL,NULL,NULL,NULL),(6969,'UniProt Function',NULL,8457,NULL,'Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with NIPBL/SCC2 which mediates the loading of the cohesin complex onto chromatin (PubMed:28167679, PubMed:22628566). Plays a role in sister chromatid cohesion and normal progression through prometaphase (PubMed:16802858, PubMed:16682347).',NULL,NULL,NULL,NULL,NULL),(6970,'UniProt Function',NULL,8458,NULL,'Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in epigenetic chromatin reprogramming in the zygote following fertilization. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation (By similarity). Selectively binds to the promoter region of target genes and contributes to regulate the expression of numerous developmental genes (PubMed:23217707). In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in DNA demethylation in the paternal pronucleus by mediating conversion of 5mC into 5hmC, 5fC and 5caC. Does not mediate DNA demethylation of maternal pronucleus because of the presence of DPPA3/PGC7 on maternal chromatin that prevents TET3-binding to chromatin (By similarity). In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT (PubMed:23353889).',NULL,NULL,NULL,NULL,NULL),(6971,'UniProt Function',NULL,8459,NULL,'Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:7720699, PubMed:17167479, PubMed:25240195, PubMed:26680203, PubMed:15385606, PubMed:16988069, PubMed:17145499, PubMed:19369487, PubMed:24311784). It is a tetrodotoxin-sensitive Na(+) channel isoform (PubMed:7720699). Plays a role in pain mechanisms, especially in the development of inflammatory pain (PubMed:17167479, PubMed:17145499, PubMed:19369487, PubMed:24311784).',NULL,NULL,NULL,NULL,NULL),(6972,'UniProt Function',NULL,8460,NULL,'Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate (By similarity).',NULL,NULL,NULL,NULL,NULL),(6973,'UniProt Function',NULL,8461,NULL,'Required during spermatogenesis for normal chromosome synapsis and meiotic recombination in germ cells. Necessary for formation of DMC1 and RAD51 foci on meiotic chromosomes, suggesting a specific role in DNA double-stranded break repair.',NULL,NULL,NULL,NULL,NULL),(6974,'UniProt Function',NULL,8462,NULL,'Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). May play a role in ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(6975,'UniProt Function',NULL,8463,NULL,'Cell surface proteoglycan that bears heparan sulfate. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(6976,'UniProt Function',NULL,8465,NULL,'Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol (PubMed:24954416). Binds to the flavoprotein subunit SDHA in its FAD-bound form, blocking the generation of excess reactive oxigen species (ROS) and facilitating its assembly with the iron-sulfur protein subunit SDHB into the SDH catalytic dimer (By similarity).',NULL,NULL,NULL,NULL,NULL),(6977,'UniProt Function',NULL,8466,NULL,'Binds phosphatidylinositol 4,5-bisphosphate (PIP2). May play a role in the organization of nuclear PIP2, cell division and cell survival (PubMed:15961997).',NULL,NULL,NULL,NULL,NULL),(6978,'UniProt Function',NULL,8467,NULL,'Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart.',NULL,NULL,NULL,NULL,NULL),(6979,'UniProt Function',NULL,8468,NULL,'Contributes to the release of free fatty acids from fatty acid synthase (FASN). Has broad substrate specificity, giving rise to a range of free fatty acids with chain lengths between 10 and 16 carbon atoms (C10 - C16).',NULL,NULL,NULL,NULL,NULL),(6980,'UniProt Function',NULL,8469,NULL,'Central scaffolding component of the centrioles ensuring their 9-fold symmetry. Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells. Overexpression results in excess foci-bearing centriolar markers. Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124).',NULL,NULL,NULL,NULL,NULL),(6981,'UniProt Function',NULL,8470,NULL,'T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity).',NULL,NULL,NULL,NULL,NULL),(6982,'UniProt Function',NULL,8471,NULL,'May activate the lysosomal degradation of sphingolipids.',NULL,NULL,NULL,NULL,NULL),(6983,'UniProt Function',NULL,8472,NULL,'Actively transports glucose into cells by Na(+) cotransport with a Na(+) to glucose coupling ratio of 2:1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules.',NULL,NULL,NULL,NULL,NULL),(6984,'UniProt Function',NULL,8473,NULL,'Plays a central role during spermatogenesis by participating in the repression transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Required for the localization of Piwi proteins to the meiotic nuage. Involved in the piRNA metabolic process by ensuring the entry of correct transcripts into the normal piRNA pool and limiting the entry of cellular transcripts into the piRNA pathway. May act by allowing the recruitment of piRNA biogenesis or loading factors that ensure the correct entry of transcripts and piRNAs into Piwi proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(6985,'UniProt Function',NULL,8474,NULL,'Tumor suppressor which functions to suppress MRTFA-induced SRF transcriptional activity. May function in the RHOA-DIAPH1 signal transduction pathway and regulate cell migration through transcriptional regulation of ITGB1.',NULL,NULL,NULL,NULL,NULL),(6986,'UniProt Function',NULL,8475,NULL,'Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(6987,'UniProt Function',NULL,8476,NULL,'Seems to protect cells by scavenging oxidative molecules or harmful products of oxidation.',NULL,NULL,NULL,NULL,NULL),(6988,'UniProt Function',NULL,8477,NULL,'Ferritin receptor that mediates non-transferrin-dependent delivery of iron. Mediates cellular uptake of ferritin-bound iron by stimulating ferritin endocytosis from the cell surface with consequent iron delivery within the cell. Delivery of iron to cells by ferritin is required for the development of specific cell types, suggesting the existence of cell type-specific mechanisms of iron traffic in organogenesis, which alternatively utilize transferrin or non-transferrin iron delivery pathways. Ferritin mediates iron uptake in capsule cells of the developing kidney. Binds preferrentially ferritin light chain (FTL) compared to heavy chain (FTH1).',NULL,NULL,NULL,NULL,NULL),(6989,'UniProt Function',NULL,8478,NULL,'Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses.',NULL,NULL,NULL,NULL,NULL),(6990,'UniProt Function',NULL,8479,NULL,'This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. This sodium channel may be present in both denervated and innervated skeletal muscle.',NULL,NULL,NULL,NULL,NULL),(6991,'UniProt Function',NULL,8480,NULL,'Adapter protein that links SCN10A to clathrin. Regulates SCN10A channel activity, possibly by promoting channel internalization (By similarity).',NULL,NULL,NULL,NULL,NULL),(6992,'UniProt Function',NULL,8481,NULL,'Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli.',NULL,NULL,NULL,NULL,NULL),(6993,'UniProt Function',NULL,8482,NULL,'Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.',NULL,NULL,NULL,NULL,NULL),(6994,'UniProt Function',NULL,8483,NULL,'Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation.',NULL,NULL,NULL,NULL,NULL),(6995,'UniProt Function',NULL,8484,NULL,'Copper metallochaperone essential for the maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Not required for the synthesis of MT-CO2/COX2 but plays a crucial role in stabilizing MT-CO2/COX2 during its subsequent maturation. Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15659396, PubMed:16735468, PubMed:17189203, PubMed:19336478, PubMed:15229189). Plays an important role in the regulation of copper homeostasis by controlling the abundance and cell membrane localization of copper transporter CTR1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(6996,'UniProt Function',NULL,8485,NULL,'Nucleotidyltransferase that act as a non-canonical poly(A) RNA polymerase.',NULL,NULL,NULL,NULL,NULL),(6997,'UniProt Function',NULL,8487,NULL,'Regulates COPI-mediated retrograde protein traffic at the interface between the Golgi apparatus and the endoplasmic reticulum (PubMed:18556652). Involved in the maintenance of the Golgi apparatus morphology (PubMed:26581903). Has no detectable kinase activity in vitro (PubMed:18556652).',NULL,NULL,NULL,NULL,NULL),(6998,'UniProt Function',NULL,8487,NULL,'Isoform 6 acts as transcriptional activator. It binds to three different types of GC-rich DNA binding sites (box-A, -B and -C) in the beta-polymerase promoter region. It also binds to the TERT promoter region.',NULL,NULL,NULL,NULL,NULL),(6999,'UniProt Function',NULL,8488,NULL,'Cell surface proteoglycan that bears both heparan sulfate and chondroitin sulfate and that links the cytoskeleton to the interstitial matrix. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(7000,'UniProt Function',NULL,8489,NULL,'Chemoattractant active on T-lymphocytes and monocytes but not neutrophils. Activates the C-X-C chemokine receptor CXCR4 to induce a rapid and transient rise in the level of intracellular calcium ions and chemotaxis. SDF-1-beta(3-72) and SDF-1-alpha(3-67) show a reduced chemotactic activity. Binding to cell surface proteoglycans seems to inhibit formation of SDF-1-alpha(3-67) and thus to preserve activity on local sites. Also binds to atypical chemokine receptor ACKR3, which activates the beta-arrestin pathway and acts as a scavenger receptor for SDF-1. Binds to the allosteric site (site 2) of integrins and activates integrins ITGAV:ITGB3, ITGA4:ITGB1 and ITGA5:ITGB1 in a CXCR4-independent manner (PubMed:29301984). Acts as a positive regulator of monocyte migration and a negative regulator of monocyte adhesion via the LYN kinase. Stimulates migration of monocytes and T-lymphocytes through its receptors, CXCR4 and ACKR3, and decreases monocyte adherence to surfaces coated with ICAM-1, a ligand for beta-2 integrins. SDF1A/CXCR4 signaling axis inhibits beta-2 integrin LFA-1 mediated adhesion of monocytes to ICAM-1 through LYN kinase. Inhibits CXCR4-mediated infection by T-cell line-adapted HIV-1. Plays a protective role after myocardial infarction. Induces down-regulation and internalization of ACKR3 expressed in various cells. Has several critical functions during embryonic development; required for B-cell lymphopoiesis, myelopoiesis in bone marrow and heart ventricular septum formation. Stimulates the proliferation of bone marrow-derived B-cell progenitors in the presence of IL7 as well as growth of stromal cell-dependent pre-B-cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(7001,'UniProt Function',NULL,8490,NULL,'Probable transcription factor involved in the control of specification of mesoderm and endoderm.',NULL,NULL,NULL,NULL,NULL),(7002,'UniProt Function',NULL,8491,NULL,'Mediates post-translational transport of precursor polypeptides across endoplasmic reticulum (ER). Proposed to act as a targeting receptor for small presecretory proteins containing short and apolar signal peptides. Targets and properly positions newly synthesized presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen.',NULL,NULL,NULL,NULL,NULL),(7003,'UniProt Function',NULL,8492,NULL,'May be involved in a redox-related process.',NULL,NULL,NULL,NULL,NULL),(7004,'UniProt Function',NULL,8493,NULL,'May be a redox-active mitochondrial selenoprotein which interacts with a redox target protein.',NULL,NULL,NULL,NULL,NULL),(7005,'UniProt Function',NULL,8494,NULL,'Mediates the transport of adenosine 3\'-phospho 5\'-phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. May indirectly participate in activation of the NF-kappa-B and MAPK pathways.',NULL,NULL,NULL,NULL,NULL),(7006,'UniProt Function',NULL,8495,NULL,'Transcription factor involved in SLC2A4 and HD gene transactivation. Binds to the consensus sequence 5\'-GCCGGCG-3\'.',NULL,NULL,NULL,NULL,NULL),(7007,'UniProt Function',NULL,8496,NULL,'Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells.',NULL,NULL,NULL,NULL,NULL),(7008,'UniProt Function',NULL,8497,NULL,'Induces cell death. May act as a transcriptional corepressor of a gene related to cell survival. May be involved in the regulation of beta-2-microglobulin genes.',NULL,NULL,NULL,NULL,NULL),(7009,'UniProt Function',NULL,8498,NULL,'Sodium-dependent amino acid transporter. Mediates electrogenic symport of neutral amino acids and sodium ions. Has a broad specificity, with a preference for Ala, followed by His, Cys, Asn, Ser, Gly, Val, Thr, Gln and Met. May mediate sodium-independent transport of cationic amino acids, such as Arg and Lys. Amino acid uptake is pH-dependent, with low transport activities at pH 6.5, intermediate at pH 7.0 and highest between pH 7.5 and 8.5.',NULL,NULL,NULL,NULL,NULL),(7010,'UniProt Function',NULL,8499,NULL,'Plays an important role in the excretion/detoxification of endogenous and exogenous organic anions, especially from the brain and kidney. Involved in the transport basolateral of steviol, fexofenadine. Transports benzylpenicillin (PCG), estrone-3-sulfate (E1S), cimetidine (CMD), 2,4-dichloro-phenoxyacetate (2,4-D), p-amino-hippurate (PAH), acyclovir (ACV) and ochratoxin (OTA).',NULL,NULL,NULL,NULL,NULL),(7011,'UniProt Function',NULL,8501,NULL,'Zinc transporter, that transports Zn(2+) from the endoplasmic reticulum/Golgi apparatus to the cytosol. Transport is stimulated by growth factors, such as EGF, and Ca(2+), as well as by exogenous Zn(2+).',NULL,NULL,NULL,NULL,NULL),(7012,'UniProt Function',NULL,8502,NULL,'Acts as a manganese and zinc influx transporter (PubMed:12504855, PubMed:26637978). Plays a role in manganese reabsorption in the proximal tubule of the kidney and in manganese uptake into the brain (PubMed:26637978).',NULL,NULL,NULL,NULL,NULL),(7013,'UniProt Function',NULL,8503,NULL,'Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (VLCFAs). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity).',NULL,NULL,NULL,NULL,NULL),(7014,'UniProt Function',NULL,8506,NULL,'Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5. Probably acts in cooperation with the SNARE machinery. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) in case of endoplasmic reticulum stress by inhibiting the endocytosis pathway.',NULL,NULL,NULL,NULL,NULL),(7015,'UniProt Function',NULL,8507,NULL,'Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals.',NULL,NULL,NULL,NULL,NULL),(7016,'UniProt Function',NULL,8508,NULL,'May function in the assembly or regulation of proteins in the cornified envelope. The LIM domain may be involved in homotypic or heterotypic associations and may function to localize sciellin to the cornified envelope.',NULL,NULL,NULL,NULL,NULL),(7017,'UniProt Function',NULL,8509,NULL,'Putative component of some signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(7018,'UniProt Function',NULL,8510,NULL,'Scaffolding protein that specifically recognizes and binds dimethylarginine-containing proteins. In nucleus, acts as a coactivator: recognizes and binds asymmetric dimethylation on the core histone tails associated with transcriptional activation (H3R17me2a and H4R3me2a) and recruits proteins at these arginine-methylated loci. In cytoplasm, may play a role in the assembly and/or disassembly of mRNA stress granules and in the regulation of translation of target mRNAs by binding Arg/Gly-rich motifs (GAR) in dimethylarginine-containing proteins.',NULL,NULL,NULL,NULL,NULL),(7019,'UniProt Function',NULL,8511,NULL,'Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:20427317, PubMed:17499046, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24B may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes (PubMed:17499046, PubMed:18843296).',NULL,NULL,NULL,NULL,NULL),(7020,'UniProt Function',NULL,8514,NULL,'Transcriptional repressor that binds E-box motif CAGGTG. Can modulate the action of basic helix-loop-helix (bHLH) transcription factors, critical for neuronal differentiation.',NULL,NULL,NULL,NULL,NULL),(7021,'UniProt Function',NULL,8515,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(7022,'UniProt Function',NULL,8516,NULL,'Plays an early essential role in mesoderm formation, as well as a later role in formation of somite-derived chondrogenic lineages.',NULL,NULL,NULL,NULL,NULL),(7023,'UniProt Function',NULL,8518,NULL,'Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.',NULL,NULL,NULL,NULL,NULL),(7024,'UniProt Function',NULL,8519,NULL,'Iron-sulfur protein (IP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).',NULL,NULL,NULL,NULL,NULL),(7025,'UniProt Function',NULL,8520,NULL,'Transcription factor that facilitates establishment and maintenance of pluripotency in embryonic stem cells (ESCs) (PubMed:25215486, PubMed:26906118). With KLF2, acts as the major effector of self-renewal that mediates induction of pluripotency downstream of LIF/STAT3 and Wnt/beta-catenin signaling (By similarity). Required for normal duct development in the salivary gland and kidney (By similarity). Coordinates the development of the kidney collecting ducts intercalated (IC) and principal (PC) cells, which regulate acid-base and salt-water homeostasis, respectively (By similarity). Regulates the expression of IC genes including subunits B1 and D2 of the V-ATPase complex, OXGR1, CA12, SLC4A1, AQP6 and IC-specific transcription factor FOXI1 (By similarity). Regulates also the expression of JAG1 and subsequent notch signaling in the collecting duct (By similarity). JAG1 initiates notch signaling in PCs but inhibits notch signaling in ICs (By similarity). Acts as a transcriptional suppressor that may suppress UBP1-mediated transcriptional activation (By similarity). Modulates the placental expression of CYP11A1 (PubMed:10644752).',NULL,NULL,NULL,NULL,NULL),(7026,'UniProt Function',NULL,8521,NULL,'May have a transcription role in testis.',NULL,NULL,NULL,NULL,NULL),(7027,'UniProt Function',NULL,8522,NULL,'Protease that deconjugates SUMO2 and SUMO3 from targeted proteins, but not SUMO1. Catalyzes the deconjugation of poly-SUMO2 and poly-SUMO3 chains. Has very low efficiency in processing full-length SUMO proteins to their mature forms.',NULL,NULL,NULL,NULL,NULL),(7028,'UniProt Function',NULL,8523,NULL,'Cell surface receptor for PLXN1B and PLXNB2 that plays an important role in cell-cell signaling. Promotes reorganization of the actin cytoskeleton and plays a role in axonal growth cone guidance in the developing central nervous system. Regulates dendrite and axon branching and morphogenesis. Promotes the migration of cerebellar granule cells and of endothelial cells. Plays a role in the immune system; induces B-cells to aggregate and improves their viability (in vitro). Promotes signaling via SRC and PTK2B/PYK2, which then mediates activation of phosphatidylinositol 3-kinase and of the AKT1 signaling cascade. Interaction with PLXNB1 mediates activation of RHOA.',NULL,NULL,NULL,NULL,NULL),(7029,'UniProt Function',NULL,8524,NULL,'May function as a thiol-disulfide oxidoreductase that participates in disulfide bond formation.',NULL,NULL,NULL,NULL,NULL),(7030,'UniProt Function',NULL,8525,NULL,'Has growth cone collapse activity against retinal ganglion-cell axons.',NULL,NULL,NULL,NULL,NULL),(7031,'UniProt Function',NULL,8526,NULL,'Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).',NULL,NULL,NULL,NULL,NULL),(7032,'UniProt Function',NULL,8527,NULL,'Interacts with target proteins during their translocation into the lumen of the endoplasmic reticulum. Protects unfolded target proteins against degradation during ER stress. May facilitate glycosylation of target proteins after termination of ER stress. May modulate the use of N-glycosylation sites on target proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(7033,'UniProt Function',NULL,8528,NULL,'May interact with target proteins during translocation into the lumen of the endoplasmic reticulum. May protect unfolded target proteins against degradation and facilitate correct glycosylation (Potential).',NULL,NULL,NULL,NULL,NULL),(7034,'UniProt Function',NULL,8529,NULL,'Subunit of the splicing factor SF3A required for \'A\' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the \'E\' complex.',NULL,NULL,NULL,NULL,NULL),(7035,'UniProt Function',NULL,8531,NULL,'May act as the primary docking protein directing membrane turnover and assembly of the transient receptor potential channels TRPC4 and TRPC5. Binds phospholipids such as phosphatidylinositol monophosphates, phosphatidylinositol diphosphates (PIP2s) and phosphatidic acid, but not less polar lipids including phosphatidylcholine, phosphatidylserine, and phosphatidylinositol. The binding to PIP2s is calcium dependent. Might be involved in the plasma membrane localization of CTNNB1.',NULL,NULL,NULL,NULL,NULL),(7036,'UniProt Function',NULL,8532,NULL,'Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for \'A\' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the \'E\' complex (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077).',NULL,NULL,NULL,NULL,NULL),(7037,'UniProt Function',NULL,8533,NULL,'May be involved in the assembly of microtubule arrays during cell elongation.',NULL,NULL,NULL,NULL,NULL),(7038,'UniProt Function',NULL,8535,NULL,'Signaling adapter that couples activated growth factor receptors to signaling pathways. Participates in a signaling cascade initiated by activated KIT and KITLG/SCF. Isoform p46Shc and isoform p52Shc, once phosphorylated, couple activated receptor tyrosine kinases to Ras via the recruitment of the GRB2/SOS complex and are implicated in the cytoplasmic propagation of mitogenic signals. Isoform p46Shc and isoform p52Shc may thus function as initiators of the Ras signaling cascade in various non-neuronal systems. Isoform p66Shc does not mediate Ras activation, but is involved in signal transduction pathways that regulate the cellular response to oxidative stress and life span. Isoform p66Shc acts as a downstream target of the tumor suppressor p53 and is indispensable for the ability of stress-activated p53 to induce elevation of intracellular oxidants, cytochrome c release and apoptosis. The expression of isoform p66Shc has been correlated with life span (By similarity). Participates in signaling downstream of the angiopoietin receptor TEK/TIE2, and plays a role in the regulation of endothelial cell migration and sprouting angiogenesis.',NULL,NULL,NULL,NULL,NULL),(7039,'UniProt Function',NULL,8536,NULL,'Stimulates the GTPase activity of RAP2A. Promotes reorganization of the actin cytoskeleton and recruits DLG4 to F-actin. Contributes to the regulation of dendritic spine morphogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(7040,'UniProt Function',NULL,8538,NULL,'E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Together with clathrin, forms meshwork structures involved in membrane morphogenesis and cytoskeletal organization. Regulates integrin-mediated signaling. May play a role in activation of FAK in response to cell-matrix interactions. Mediates ubiquitination of ACLY, leading to its subsequent degradation.',NULL,NULL,NULL,NULL,NULL),(7041,'UniProt Function',NULL,8539,NULL,'Probable S-adenosyl-L-methionine-dependent methyltransferase which methylates RNA molecules such as tRNAs. In case of infection by HIV-1, it binds to the loop region of TAR RNA, a region also bound by RNA polymerase II. Binding of TARBP1 and RNA polymerase II to HIV-1 TAR RNA is mutually exclusive, suggesting that TARBP1 may function alone or in conjunction with HIV-1 Tat to disengage RNA polymerase II from HIV-1 TAR RNA. May act by methylating HIV-1 TAR RNA.',NULL,NULL,NULL,NULL,NULL),(7042,'UniProt Function',NULL,8540,NULL,'May act as receptor (By similarity). Negatively regulates TCR-mediated CD4(+) T cell proliferation and activation, possibly by binding an unknown ligand on the T cell surface (PubMed:26311901). Enhances Toll-like receptor-mediated production of pro-inflammatory cytokines by macrophages and neutrophils (By similarity).',NULL,NULL,NULL,NULL,NULL),(7043,'UniProt Function',NULL,8541,NULL,'Acts as GTPase-activating protein for RAB27A, but not for RAB2A, RAB3A, nor RAB4A.',NULL,NULL,NULL,NULL,NULL),(7044,'UniProt Function',NULL,8542,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).',NULL,NULL,NULL,NULL,NULL),(7045,'UniProt Function',NULL,8543,NULL,'Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents. Following activation of toll-like receptors by viral or bacterial components, associates with TRAF3 and TANK and phosphorylates interferon regulatory factors (IRFs) IRF3 and IRF7 as well as DDX3X. This activity allows subsequent homodimerization and nuclear translocation of the IRFs leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNA and IFNB. In order to establish such an antiviral state, TBK1 form several different complexes whose composition depends on the type of cell and cellular stimuli. Thus, several scaffolding molecules including FADD, TRADD, MAVS, AZI2, TANK or TBKBP1/SINTBAD can be recruited to the TBK1-containing-complexes. Under particular conditions, functions as a NF-kappa-B effector by phosphorylating NF-kappa-B inhibitor alpha/NFKBIA, IKBKB or RELA to translocate NF-Kappa-B to the nucleus. Restricts bacterial proliferation by phosphorylating the autophagy receptor OPTN/Optineurin on \'Ser-177\', thus enhancing LC3 binding affinity and antibacterial autophagy (PubMed:21617041). Phosphorylates SMCR8 component of the C9orf72-SMCR8 complex, promoting autophagosome maturation (PubMed:27103069). Phosphorylates and activates AKT1 (PubMed:21464307). Seems to play a role in energy balance regulation by sustaining a state of chronic, low-grade inflammation in obesity, wich leads to a negative impact on insulin sensitivity. Attenuates retroviral budding by phosphorylating the endosomal sorting complex required for transport-I (ESCRT-I) subunit VPS37C (PubMed:21270402). Phosphorylates Borna disease virus (BDV) P protein (PubMed:16155125). Plays an essential role in the TLR3- and IFN-dependent control of herpes virus HSV-1 and HSV-2 infections in the central nervous system (PubMed:22851595).',NULL,NULL,NULL,NULL,NULL),(7046,'UniProt Function',NULL,8544,NULL,'Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11.',NULL,NULL,NULL,NULL,NULL),(7047,'UniProt Function',NULL,8545,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. TUBB3 plays a critical role in proper axon guidance and mantainance.',NULL,NULL,NULL,NULL,NULL),(7048,'UniProt Function',NULL,8546,NULL,'Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5\'-TCT-3\' motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box.',NULL,NULL,NULL,NULL,NULL),(7049,'UniProt Function',NULL,8547,NULL,'Involved in the modulation of mTOR signaling and expression of mTOR complex components (PubMed:27040691, PubMed:23977024). Involved in the regulation of cell proliferation and growth (PubMed:23977024, PubMed:24576458). Involved in the control of actin-cytoskeleton organization (PubMed:23977024).',NULL,NULL,NULL,NULL,NULL),(7050,'UniProt Function',NULL,8548,NULL,'Functions as sorting adapter in LPS-TLR4 signaling to regulate the MYD88-independent pathway during the innate immune response to LPS. Physically bridges TLR4 and TICAM1 and functionally transmits LPS-TRL4 signal to TICAM1; signaling is proposed to occur in early endosomes after endocytosis of TLR4. May also be involved in IL1-triggered NF-kappa-B activation, functioning upstream of IRAK1, IRAK2, TRAF6, and IKBKB; however, reports are controversial. Involved in IL-18 signaling and is proposed to function as a sorting adaptor for MYD88 in IL-18 signaling during adaptive immune response.',NULL,NULL,NULL,NULL,NULL),(7051,'UniProt Function',NULL,8548,NULL,'Isoform 2: Proposed to inhibit LPS-TLR4 signaling at the late endosome by interaction with isoform 1 thereby disrupting the association of isoform 1 with TICAM1. May be involved in TLR4 degradation in late endosomes.',NULL,NULL,NULL,NULL,NULL),(7052,'UniProt Function',NULL,8549,NULL,'Plays a role in the regulation of protein degradation via the ubiquitin-proteasome system (UPS). Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (Ref. 6). Plays a role in the regulation of the proteasomal degradation of non-ubiquitinated GJA1 (By similarity). Acts as an adapter protein that recruits UBQLN1 to the autophagy machinery. Mediates the association of UBQLN1 with autophagosomes and the autophagy-related protein LC3 (MAP1LC3A/B/C) and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:23459205).',NULL,NULL,NULL,NULL,NULL),(7053,'UniProt Function',NULL,8550,NULL,'Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II.',NULL,NULL,NULL,NULL,NULL),(7054,'UniProt Function',NULL,8551,NULL,'Gustducin-coupled strychnine receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5.',NULL,NULL,NULL,NULL,NULL),(7055,'UniProt Function',NULL,8552,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5.',NULL,NULL,NULL,NULL,NULL),(7056,'UniProt Function',NULL,8553,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7057,'UniProt Function',NULL,8554,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7058,'UniProt Function',NULL,8555,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7059,'UniProt Function',NULL,8556,NULL,'Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5.',NULL,NULL,NULL,NULL,NULL),(7060,'UniProt Function',NULL,8557,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7061,'UniProt Function',NULL,8558,NULL,'Gustducin-coupled receptor immplicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Activated by the sulfonyl amide sweeteners saccharin and acesulfame K. In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. May act as chemosensory receptors in airway epithelial cells to detect and eliminate potential noxious agents from the airways (By similarity).',NULL,NULL,NULL,NULL,NULL),(7062,'UniProt Function',NULL,8559,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7063,'UniProt Function',NULL,8562,NULL,'May function as an adapter molecule that regulates TRAF3-mediated JNK activation.',NULL,NULL,NULL,NULL,NULL),(7064,'UniProt Function',NULL,8563,NULL,'Gustducin-coupled receptor for denatonium and N(6)-propyl-2-thiouracil implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. In airway epithelial cells, binding of denatonium increases the intracellular calcium ion concentration and stimulates ciliary beat frequency.',NULL,NULL,NULL,NULL,NULL),(7065,'UniProt Function',NULL,8564,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5.',NULL,NULL,NULL,NULL,NULL),(7066,'UniProt Function',NULL,8565,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5.',NULL,NULL,NULL,NULL,NULL),(7067,'UniProt Function',NULL,8566,NULL,'Receptor for trace amines, including beta-phenylethylamine (b-PEA), p-tyramine (p-TYR), octopamine and tryptamine, with highest affinity for b-PEA and p-TYR. Unresponsive to classical biogenic amines, such as epinephrine and histamine and only partially activated by dopamine and serotonin. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood. The signal transduced by this receptor is mediated by the G(s)-class of G-proteins which activate adenylate cyclase.',NULL,NULL,NULL,NULL,NULL),(7068,'UniProt Function',NULL,8567,NULL,'Olfactory receptor specific for trimethylamine, a trace amine. Also activated at lower level by dimethylethylamine. Trimethylamine is a bacterial metabolite found in some animal odors, and to humans it is a repulsive odor associated with bad breath and spoiled food. This receptor is probably mediated by the G(s)-class of G-proteins which activate adenylate cyclase.',NULL,NULL,NULL,NULL,NULL),(7069,'UniProt Function',NULL,8568,NULL,'Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood.',NULL,NULL,NULL,NULL,NULL),(7070,'UniProt Function',NULL,8569,NULL,'Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood.',NULL,NULL,NULL,NULL,NULL),(7071,'UniProt Function',NULL,8570,NULL,'Adapter linking MAP3K7/TAK1 and TRAF6 or TRAF2. Mediator of MAP3K7 activation, respectively in the IL1 and TNF signaling pathways. Plays a role in activation of NF-kappa-B and AP1 transcription factor. Isoform 2 may be an oncogenic factor.',NULL,NULL,NULL,NULL,NULL),(7072,'UniProt Function',NULL,8571,NULL,'Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Required for the function of some acidic activation domains, which activate transcription from a distant site (By similarity). Binds double-stranded DNA. Binds dinucleosomes, probably at the linker region between neighboring nucleosomes. Plays a role in chromatin remodeling. May promote TP53/p53 \'Lys-321\' acetylation, leading to reduced TP53 stability and transcriptional activity (PubMed:22644376). May also promote XRCC6 acetylation thus facilitating cell apoptosis in response to DNA damage (PubMed:22644376).',NULL,NULL,NULL,NULL,NULL),(7073,'UniProt Function',NULL,8572,NULL,'Coactivates PAX5-dependent transcription together with either SMARCA4 or GCN5L2.',NULL,NULL,NULL,NULL,NULL),(7074,'UniProt Function',NULL,8573,NULL,'Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity).',NULL,NULL,NULL,NULL,NULL),(7075,'UniProt Function',NULL,8574,NULL,'Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in regulating the assembly of the AUM (By similarity).',NULL,NULL,NULL,NULL,NULL),(7076,'UniProt Function',NULL,8575,NULL,'Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex. Also known as a coactivator for p53/TP53-dependent transcriptional activation. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4.',NULL,NULL,NULL,NULL,NULL),(7077,'UniProt Function',NULL,8576,NULL,'Core TAFII present in both of the previously described TFIID species which either lack or contain TAFII30 (TFIID alpha and TFIID beta respectively).',NULL,NULL,NULL,NULL,NULL),(7078,'UniProt Function',NULL,8577,NULL,'TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TAFs components-TIIFD are essential for mediating regulation of RNA polymerase transcription.',NULL,NULL,NULL,NULL,NULL),(7079,'UniProt Function',NULL,8578,NULL,'Largest component and core scaffold of the TFIID basal transcription factor complex (PubMed:25412659, PubMed:27007846). Contains novel N- and C-terminal Ser/Thr kinase domains which can autophosphorylate or transphosphorylate other transcription factors. Phosphorylates TP53 on \'Thr-55\' which leads to MDM2-mediated degradation of TP53. Phosphorylates GTF2A1 and GTF2F1 on Ser residues. Possesses DNA-binding activity (PubMed:25412659). Essential for progression of the G1 phase of the cell cycle (PubMed:11278496, PubMed:15053879, PubMed:2038334, PubMed:8450888, PubMed:8625415, PubMed:9660973, PubMed:9858607). Exhibits histone acetyltransferase activity towards histones H3 and H4 (PubMed:15870300).',NULL,NULL,NULL,NULL,NULL),(7080,'UniProt Function',NULL,8579,NULL,'Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits.',NULL,NULL,NULL,NULL,NULL),(7081,'UniProt Function',NULL,8580,NULL,'TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TIIFD is multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors.',NULL,NULL,NULL,NULL,NULL),(7082,'UniProt Function',NULL,8580,NULL,'Isoform 4: Transcriptional regulator which acts primarily as a positive regulator of transcription (PubMed:20096117, PubMed:29358700). Recruited to the promoters of a number of genes including GADD45A and CDKN1A/p21, leading to transcriptional up-regulation and subsequent induction of apoptosis (PubMed:11583621). Also up-regulates expression of other genes including GCNA/ACRC, HES1 and IFFO1 (PubMed:18628956). In contrast, down-regulates transcription of MDM2 (PubMed:11583621). Acts as a transcriptional coactivator to enhance transcription of TP53/p53-responsive genes such as DUSP1 (PubMed:20096117). Can also activate transcription and apoptosis independently of TP53 (PubMed:18628956). Drives apoptosis via the intrinsic apoptotic pathway by up-regulating apoptosis effectors such as BCL2L11/BIM and PMAIP1/NOXA (PubMed:29358700).',NULL,NULL,NULL,NULL,NULL),(7083,'UniProt Function',NULL,8581,NULL,'Cell type-specific subunit of the general transcription factor TFIID that may function as a gene-selective coactivator in certain cells. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. TAF4B is a transcriptional coactivator of the p65/RELA NF-kappa-B subunit. Involved in the activation of a subset of antiapoptotic genes including TNFAIP3. May be involved in regulating folliculogenesis. Through interaction with OCBA/POU2AF1, acts as a coactivator of B-cell-specific transcription. Plays a role in spermiogenesis and oogenesis.',NULL,NULL,NULL,NULL,NULL),(7084,'UniProt Function',NULL,8582,NULL,'Catalyzes the formation of CDP-diacylglycerol (CDP-DAG) from phosphatidic acid (PA) in the mitochondrial inner membrane. Required for the biosynthesis of the dimeric phospholipid cardiolipin, which stabilizes supercomplexes of the mitochondrial respiratory chain in the mitochondrial inner membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(7085,'UniProt Function',NULL,8583,NULL,'Acts as a GTPase-activating protein for RAB35. Together with RAB35 may be involved in regulation of insulin-induced glucose transporter SLC2A4/GLUT4 translocation to the plasma membrane in adipocytes.',NULL,NULL,NULL,NULL,NULL),(7086,'UniProt Function',NULL,8584,NULL,'Negative regulator of starvation-induced autophagosome formation.',NULL,NULL,NULL,NULL,NULL),(7087,'UniProt Function',NULL,8585,NULL,'May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake.',NULL,NULL,NULL,NULL,NULL),(7088,'UniProt Function',NULL,8586,NULL,'May act as a GTPase-activating protein for Rab family protein(s).',NULL,NULL,NULL,NULL,NULL),(7089,'UniProt Function',NULL,8587,NULL,'Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation.',NULL,NULL,NULL,NULL,NULL),(7090,'UniProt Function',NULL,8588,NULL,'May act as a GTPase-activating protein for Rab family protein(s).',NULL,NULL,NULL,NULL,NULL),(7091,'UniProt Function',NULL,8589,NULL,'Probable transcriptional regulator involved in developmental processes. Required for normal brain development.',NULL,NULL,NULL,NULL,NULL),(7092,'UniProt Function',NULL,8590,NULL,'Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into the nucleoplasm. Involved in maintaining chromosomal stability.',NULL,NULL,NULL,NULL,NULL),(7093,'UniProt Function',NULL,8591,NULL,'Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic site (called T site) and activates gene transcription when bound to such a site.',NULL,NULL,NULL,NULL,NULL),(7094,'UniProt Function',NULL,8594,NULL,'E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). Involved in maturation and/or transcriptional regulation of mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle progression. May have tumor suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response. Plays an essential role in extraembryonic development. Ubiquitinates acetylated PCK1. Also acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of \'Lys-63\'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes.',NULL,NULL,NULL,NULL,NULL),(7095,'UniProt Function',NULL,8595,NULL,'Isoform 4 may play a role in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Mediates Ca(2+)-regulation of exocytosis acrosomal reaction in sperm. May mediate Ca(2+)-regulation of exocytosis in insulin secreted cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(7096,'UniProt Function',NULL,8596,NULL,'May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis.',NULL,NULL,NULL,NULL,NULL),(7097,'UniProt Function',NULL,8597,NULL,'Ca(2+) sensor involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain. Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(7098,'UniProt Function',NULL,8598,NULL,'May play a role in vesicle trafficking (By similarity). Binds phosphatidylinositol 3,4,5-trisphosphate. Acts as a RAB27A effector protein and may play a role in cytotoxic granule exocytosis in lymphocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(7099,'UniProt Function',NULL,8599,NULL,'Inhibits the Ras signaling pathway through its intrinsic Ras GTPase-activating protein (GAP) activity. Acts as a negative feedback inhibitor of the calcineurin signaling pathway that also mediates crosstalk between calcineurin and Ras.',NULL,NULL,NULL,NULL,NULL),(7100,'UniProt Function',NULL,8600,NULL,'May act as a GTPase-activating protein for Rab family protein(s).',NULL,NULL,NULL,NULL,NULL),(7101,'UniProt Function',NULL,8601,NULL,'May act as a GTPase-activating protein for Rab family protein(s).',NULL,NULL,NULL,NULL,NULL),(7102,'UniProt Function',NULL,8602,NULL,'Tubulin is the major constituent of microtubules (PubMed:23001566, PubMed:28013290, PubMed:26732629). It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Plays a critical role in proper axon guidance in both central and peripheral axon tracts (PubMed:23001566). Implicated in neuronal migration (PubMed:19465910).',NULL,NULL,NULL,NULL,NULL),(7103,'UniProt Function',NULL,8604,NULL,'Involved in protein trafficking. May serve as a receptor for ARFRP1.',NULL,NULL,NULL,NULL,NULL),(7104,'UniProt Function',NULL,8605,NULL,'E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation.',NULL,NULL,NULL,NULL,NULL),(7105,'UniProt Function',NULL,8606,NULL,'May be involved in the regulation of cellular senescence through a positive feedback loop with TP53. Is a TP53 downstream target gene that increases the stability of TP53 protein by promoting the ubiquitination and degradation of MDM2.',NULL,NULL,NULL,NULL,NULL),(7106,'UniProt Function',NULL,8607,NULL,'May be involved in transport vesicle docking to the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(7107,'UniProt Function',NULL,8608,NULL,'May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.',NULL,NULL,NULL,NULL,NULL),(7108,'UniProt Function',NULL,8609,NULL,'Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(7109,'UniProt Function',NULL,8610,NULL,'May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse. It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone. A Ca(2+)-dependent interaction between synaptotagmin and putative receptors for activated protein kinase C has also been reported. It can bind to at least three additional proteins in a Ca(2+)-independent manner; these are neurexins, syntaxin and AP2. Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(7110,'UniProt Function',NULL,8611,NULL,'Participates in the mitochondrial proton leak measured in brain mitochondria.',NULL,NULL,NULL,NULL,NULL),(7111,'UniProt Function',NULL,8612,NULL,'Isoform 1 acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse. Isoform 4 binds phosphatidylserine (PS) and phosphatidylinositol-4,5-bisphosphate (PIP2) and promotes the recruitment of glucagon-containing granules to the cell membrane in pancreatic alpha cells. Binding to PS is inhibited by Ca(2+) while binding to PIP2 is Ca(2+) insensitive.',NULL,NULL,NULL,NULL,NULL),(7112,'UniProt Function',NULL,8614,NULL,'May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids.',NULL,NULL,NULL,NULL,NULL),(7113,'UniProt Function',NULL,8615,NULL,'Cytochrome b-c1 complex subunit Rieske, mitochondrial: Component of the mitochondrial ubiquinol-cytochrome c reductase complex dimer (complex III dimer), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis (PubMed:28673544). Incorporation of UQCRFS1 is the penultimate step in complex III assembly (PubMed:28673544).',NULL,NULL,NULL,NULL,NULL),(7114,'UniProt Function',NULL,8615,NULL,'Cytochrome b-c1 complex subunit 9: Possible component of the mitochondrial ubiquinol-cytochrome c reductase complex dimer (complex III dimer), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis (PubMed:28673544). UQCRFS1 undergoes proteolytic processing once it is incorporated in the complex III dimer, including this fragment, called subunit 9, which corresponds to the transit peptide (PubMed:28673544). The proteolytic processing is necessary for the correct insertion of UQCRFS1 in the complex III dimer, but the persistence of UQCRFS1-derived fragments may prevent newly imported UQCRFS1 to be processed and assembled into complex III and is detrimental for the complex III structure and function (PubMed:28673544). It is therefore unsure whether the UQCRFS1 fragments, including this fragment, are structural subunits (PubMed:28673544).',NULL,NULL,NULL,NULL,NULL),(7115,'UniProt Function',NULL,8616,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.',NULL,NULL,NULL,NULL,NULL),(7116,'UniProt Function',NULL,8616,NULL,'Its unique specificity for 3,4-catechol estrogens and estriol suggests it may play an important role in regulating the level and activity of these potent and active estrogen metabolites. Is also active with androsterone, hyodeoxycholic acid and tetrachlorocatechol (in vitro).',NULL,NULL,NULL,NULL,NULL),(7117,'UniProt Function',NULL,8617,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.',NULL,NULL,NULL,NULL,NULL),(7118,'UniProt Function',NULL,8618,NULL,'UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme displays activity toward several classes of xenobiotic substrates, including simple phenolic compounds, 7-hydroxylated coumarins, flavonoids, anthraquinones, and certain drugs and their hydroxylated metabolites. It also catalyzes the glucuronidation of endogenous estrogens and androgens.',NULL,NULL,NULL,NULL,NULL),(7119,'UniProt Function',NULL,8619,NULL,'UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme has glucuronidating capacity with steroid substrates such as 5-beta-androstane 3-alpha,17-beta-diol, estradiol, ADT, eugenol and bile acids. Only isoform 1 seems to be active.',NULL,NULL,NULL,NULL,NULL),(7120,'UniProt Function',NULL,8620,NULL,'May be involved in the regulation of dopamine release and transport. Induces fibrillization of microtubule-associated protein tau. Reduces neuronal responsiveness to various apoptotic stimuli, leading to a decreased caspase-3 activation.',NULL,NULL,NULL,NULL,NULL),(7121,'UniProt Function',NULL,8622,NULL,'Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic reticulum-associated UBC7 E2 ligase and transfers it to substrates, promoting their degradation (PubMed:12459480, PubMed:12646171, PubMed:12975321, PubMed:14593114, PubMed:16289116, PubMed:16847254, PubMed:17059562, PubMed:17141218, PubMed:17170702, PubMed:22607976, PubMed:26471130). Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:12459480, PubMed:12646171, PubMed:12975321, PubMed:14593114, PubMed:16289116, PubMed:16847254, PubMed:17059562, PubMed:17141218, PubMed:17170702, PubMed:22607976, PubMed:26471130). Also promotes the degradation of normal but naturally short-lived proteins such as SGK. Protects cells from ER stress-induced apoptosis. Protects neurons from apoptosis induced by polyglutamine-expanded huntingtin (HTT) or unfolded GPR37 by promoting their degradation (PubMed:17141218). Sequesters p53/TP53 in the cytoplasm and promotes its degradation, thereby negatively regulating its biological function in transcription, cell cycle regulation and apoptosis (PubMed:17170702). Mediates the ubiquitination and subsequent degradation of cytoplasmic NFE2L1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7122,'UniProt Function',NULL,8624,NULL,'Thiol protease which recognizes and hydrolyzes the peptide bond at the C-terminal Gly of UFM1, a ubiquitin-like modifier protein bound to a number of target proteins. Does not hydrolyze SUMO1 or ISG15 ubiquitin-like proteins. Through TRIP4 deufmylation may regulate intracellular nuclear receptors transactivation and thereby regulate cell proliferation and differentiation.',NULL,NULL,NULL,NULL,NULL),(7123,'UniProt Function',NULL,8626,NULL,'E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Plays a critical role in chromatin inactivation and chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth. Required for spermatogenesis, promotes, with Tex19.1, SPO11-dependent recombination foci to accumulate and drive robust homologous chromosome synapsis (By similarity). Polyubiquitinates LINE-1 retrotransposon encoded, LIRE1, which induces degradation, inhibiting LINE-1 retranstoposon mobilization (By similarity).',NULL,NULL,NULL,NULL,NULL),(7124,'UniProt Function',NULL,8627,NULL,'May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis.',NULL,NULL,NULL,NULL,NULL),(7125,'UniProt Function',NULL,8628,NULL,'May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis.',NULL,NULL,NULL,NULL,NULL),(7126,'UniProt Function',NULL,8629,NULL,'Involved in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins, possibly by tethering VCP to the endoplasmic reticulum membrane. May play a role in reproduction.',NULL,NULL,NULL,NULL,NULL),(7127,'UniProt Function',NULL,8630,NULL,'May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Regulates the Ca(2+)-dependent secretion of norepinephrine in PC12 cells. Required for export from the endocytic recycling compartment to the cell surface (By similarity).',NULL,NULL,NULL,NULL,NULL),(7128,'UniProt Function',NULL,8631,NULL,'UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the form of heat.',NULL,NULL,NULL,NULL,NULL),(7129,'UniProt Function',NULL,8632,NULL,'UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation. As a result, energy is dissipated in the form of heat. May play a role in the modulation of tissue respiratory control. Participates in thermogenesis and energy balance.',NULL,NULL,NULL,NULL,NULL),(7130,'UniProt Function',NULL,8633,NULL,'Exhibits calcium-dependent phospholipid and inositol polyphosphate binding properties (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(7131,'UniProt Function',NULL,8634,NULL,'May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids in the presence of calcium ions (By similarity).',NULL,NULL,NULL,NULL,NULL),(7132,'UniProt Function',NULL,8635,NULL,'Modulates exocytosis of dense-core granules and secretion of hormones in the pancreas and the pituitary. Interacts with vesicles containing negatively charged phospholipids in a Ca(2+)-independent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(7133,'UniProt Function',NULL,8636,NULL,'Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity).',NULL,NULL,NULL,NULL,NULL),(7134,'UniProt Function',NULL,8637,NULL,'Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.',NULL,NULL,NULL,NULL,NULL),(7135,'UniProt Function',NULL,8639,NULL,'Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. May be involved in nucleus-centrosome attachment. During interkinetic nuclear migration (INM) at G2 phase and nuclear migration in neural progenitors its LINC complex association with SUN1/2 and probable association with cytoplasmic dynein-dynactin motor complexes functions to pull the nucleus toward the centrosome; SYNE1 and SYNE2 may act redundantly. During INM at G1 phase mediates respective LINC complex association with kinesin to push the nucleus away from the centrosome. Involved in nuclear migration in retinal photoreceptor progenitors. Required for centrosome migration to the apical cell surface during early ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(7136,'UniProt Function',NULL,8640,NULL,'This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. The interaction with MFSD2A is apparently important for this process (PubMed:18988732).',NULL,NULL,NULL,NULL,NULL),(7137,'UniProt Function',NULL,8640,NULL,'Endogenous envelope proteins may have kept, lost or modified their original function during evolution but this one can still make pseudotypes with MLV, HIV-1 or SIV-1 virions and confer infectivity. Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. The surface protein mediates receptor recognition, while the transmembrane protein anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (PubMed:14694139).',NULL,NULL,NULL,NULL,NULL),(7138,'UniProt Function',NULL,8641,NULL,'Hydrolase that can remove conjugated ubiquitin from target proteins such as p53/TP53, BECN1, SNX3 and CFTR. Acts as an essential regulator of p53/TP53 stability: in unstressed cells, specifically deubiquitinates p53/TP53 in the cytoplasm, leading to counteract MDM2 action and stabilize p53/TP53. Following DNA damage, translocates to the nucleus and deubiquitinates p53/TP53, leading to regulate the p53/TP53-dependent DNA damage response. Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN1, a key regulator of autophagy, leading to stabilize the PIK3C3/VPS34-containing complexes. In turn, PIK3C3/VPS34-containing complexes regulate USP10 stability, suggesting the existence of a regulatory system by which PIK3C3/VPS34-containing complexes regulate p53/TP53 protein levels via USP10 and USP13. Does not deubiquitinate MDM2. Deubiquitinates CFTR in early endosomes, enhancing its endocytic recycling. Involved in a TANK-dependent negative feedback response to attenuate NF-kappaB activation via deubiquitinating IKBKG or TRAF6 in response to interleukin-1-beta (IL1B) stimulation or upon DNA damage (PubMed:25861989). Deubiquitinates TBX21 leading to its stabilization (PubMed:24845384).',NULL,NULL,NULL,NULL,NULL),(7139,'UniProt Function',NULL,8642,NULL,'Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level.',NULL,NULL,NULL,NULL,NULL),(7140,'UniProt Function',NULL,8643,NULL,'Specifically deubiquitinates \'Lys-120\' of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Deubiquitination of histone H2A is a prerequisite for subsequent phosphorylation at \'Ser-11\' of histone H3 (H3S10ph), and is required for chromosome segregation when cells enter into mitosis. In resting B- and T-lymphocytes, phosphorylation by AURKB leads to enhance its activity, thereby maintaining transcription in resting lymphocytes. Regulates Hox gene expression via histone H2A deubiquitination. Prefers nucleosomal substrates. Does not deubiquitinate histone H2B.',NULL,NULL,NULL,NULL,NULL),(7141,'UniProt Function',NULL,8644,NULL,'Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction pathways. May mediate the inhibitory effect of Rac1 on endocytosis.',NULL,NULL,NULL,NULL,NULL),(7142,'UniProt Function',NULL,8645,NULL,'Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity).',NULL,NULL,NULL,NULL,NULL),(7143,'UniProt Function',NULL,8646,NULL,'Ubiquitin-specific protease that regulates cell survival in various contexts through modulating the protein stability of some of its substrates including DDB2, MCL1 or TP53. Plays a positive role on ferritinophagy where ferritin is degraded in lysosomes and releases free iron.',NULL,NULL,NULL,NULL,NULL),(7144,'UniProt Function',NULL,8647,NULL,'Involved in communication between the T-tubular and junctional sarcoplasmic reticulum (SR) membranes.',NULL,NULL,NULL,NULL,NULL),(7145,'UniProt Function',NULL,8648,NULL,'Plays an important role in the activity of long-term repopulating hematopoietic stem cells (LT-HSCs).',NULL,NULL,NULL,NULL,NULL),(7146,'UniProt Function',NULL,8649,NULL,'Hydrolase that deubiquitinates polyubiquitinated target proteins such as MDM2, MDM4 and CCND1 (PubMed:17290220, PubMed:19917254, PubMed:19838211). Isoform 1 and isoform 4 possess both ubiquitin-specific peptidase and isopeptidase activities (By similarity). Deubiquitinates MDM2 without reversing MDM2-mediated p53/TP53 ubiquitination and thus indirectly promotes p53/TP53 degradation and limits p53 activity (PubMed:17290220, PubMed:19838211). Has no deubiquitinase activity against p53/TP53 (PubMed:17290220). Prevents MDM2-mediated degradation of MDM4 (PubMed:17290220). Plays a role in the G1/S cell-cycle progression in normal and cancer cells (PubMed:19917254). Regulates the circadian clock by modulating its intrinsic circadian rhythm and its capacity to respond to external cues (By similarity). Associates with clock proteins and deubiquitinates core clock component PER1 but does not affect its overall stability (By similarity). Regulates the nucleocytoplasmic shuttling and nuclear retention of PER1 and its repressive role on the clock transcription factors CLOCK and ARNTL/BMAL1 (By similarity). Plays a role in the regulation of myogenic differentiation of embryonic muscle cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(7147,'UniProt Function',NULL,8649,NULL,'Isoform 4: Circadian clock output effector that regulates Ca(2+) absorption in the small intestine. Probably functions by regulating protein levels of the membrane scaffold protein NHERF4 in a rhythmic manner, and is therefore likely to control Ca(2+) membrane permeability mediated by the Ca(2+) channel TRPV6 in the intestine.',NULL,NULL,NULL,NULL,NULL),(7148,'UniProt Function',NULL,8650,NULL,'E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (By similarity). Does not bind to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). May play a role in Shh signaling by mediating the ubiquitination of Kif7 (By similarity). May be important for MYH9 function in certain tissues, possibly by regulating the ubiquitination of MYH9 and consequently affecting its interaction with MYO7A (PubMed:27331610).',NULL,NULL,NULL,NULL,NULL),(7149,'UniProt Function',NULL,8651,NULL,'VCP/p97-binding protein required for ciliogenesis (PubMed:26389662). Acts as a tethering factor that facilitates recruitment of VCP/p97 to the intraflagellar transport complex B (IFT-B) in cilia (PubMed:26389662). UBX domain-containing proteins act as tethering factors for VCP/p97 and may specify substrate specificity of VCP/p97 (PubMed:26389662).',NULL,NULL,NULL,NULL,NULL),(7150,'UniProt Function',NULL,8652,NULL,'Adapter protein required for Golgi and endoplasmic reticulum biogenesis (PubMed:17141156). Involved in Golgi and endoplasmic reticulum maintenance during interphase and in their reassembly at the end of mitosis (PubMed:17141156). The complex formed with VCP has membrane fusion activity; membrane fusion activity requires USO1-GOLGA2 tethering and BET1L (PubMed:17141156). VCPIP1 is also required, but not its deubiquitinating activity (PubMed:17141156). Together with NSFL1C/p47, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase (PubMed:23649807). Also, regulates spindle orientation during mitosis (PubMed:23649807).',NULL,NULL,NULL,NULL,NULL),(7151,'UniProt Function',NULL,8653,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346).',NULL,NULL,NULL,NULL,NULL),(7152,'UniProt Function',NULL,8656,NULL,'Acts as a novel regulator of senescence. Involved in the formation of senescence-associated heterochromatin foci (SAHF), which represses expression of proliferation-promoting genes. Binds to proliferation-promoting genes. May be required for replication-independent chromatin assembly.',NULL,NULL,NULL,NULL,NULL),(7153,'UniProt Function',NULL,8658,NULL,'May regulate AMPA receptor content at nascent synapses, and have a role in postsynaptic development and maturation.',NULL,NULL,NULL,NULL,NULL),(7154,'UniProt Function',NULL,8659,NULL,'Involved in the regulation of inflammatory response to interferon type 1 (PubMed:27325888). Can efficiently cleave only ISG15 fusions including native ISG15 conjugates linked via isopeptide bonds. Necessary to maintain a critical cellular balance of ISG15-conjugated proteins in both healthy and stressed organisms.',NULL,NULL,NULL,NULL,NULL),(7155,'UniProt Function',NULL,8659,NULL,'Isoform 2: Has enzymatic activity similar to isoform 1 and interferes with type I interferon signaling. Major deISGylation enzyme for nuclear proteins (PubMed:22170061).',NULL,NULL,NULL,NULL,NULL),(7156,'UniProt Function',NULL,8660,NULL,'Has an actin-binding and actin-bundling activity. Can induce the formation of F-actin networks in an isoform-specific manner (PubMed:24005909, PubMed:23225103). At the sarcomeric Z lines is proposed to act as adapter protein that links nascent myofibers to the sarcolemma via ZYX and may play a role in early assembly and stabilization of the Z lines. Involved in autophagosome formation. May play a role in chaperone-assisted selective autophagy (CASA) involved in Z lines maintenance in striated muscle under mechanical tension; may link the client-processing CASA chaperone machinery to a membrane-tethering and fusion complex providing autophagosome membranes (By similarity). Involved in regulation of cell migration (PubMed:22915763, PubMed:25883213). May be a tumor suppressor (PubMed:16885336).',NULL,NULL,NULL,NULL,NULL),(7157,'UniProt Function',NULL,8660,NULL,'Isoform 1: Involved in regulation of cell migration. Can induce formation of thick, irregular actin bundles in the cell body.',NULL,NULL,NULL,NULL,NULL),(7158,'UniProt Function',NULL,8660,NULL,'Isoform 2: Involved in regulation of cell migration. Can induce long, well-organized actin bundles frequently orientated in parallel along the long axis of the cell showing characteristics of contractile ventral stress fibers.',NULL,NULL,NULL,NULL,NULL),(7159,'UniProt Function',NULL,8660,NULL,'Isoform 3: Involved in regulation of cell migration. Can induce an amorphous actin meshwork throughout the cell body containing a mixture of long and short, randomly organized thick and thin actin bundles.',NULL,NULL,NULL,NULL,NULL),(7160,'UniProt Function',NULL,8660,NULL,'Isoform 4: Can induce long, well-organized actin bundles frequently orientated in parallel along the long axis of the cell showing characteristics of contractile ventral stress fibers.',NULL,NULL,NULL,NULL,NULL),(7161,'UniProt Function',NULL,8660,NULL,'Isoform 5: Involved in regulation of cell migration in part dependent on the Rho-ROCK cascade; can promote formation of nascent focal adhesions, actin bundles at the leading cell edge and lamellipodia (PubMed:22915763, PubMed:25883213). Can induce formation of thick, irregular actin bundles in the cell body; the induced actin network is associated with enhanced cell migration in vitro.',NULL,NULL,NULL,NULL,NULL),(7162,'UniProt Function',NULL,8661,NULL,'Deubiquitinating enzyme involved in beta-2 adrenergic receptor (ADRB2) recycling. Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination beta-2 adrenergic receptor (ADRB2). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, possibly leading to beta-arrestins deubiquitination and disengagement from ADRB2. This suggests the existence of a dynamic exchange between the ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Deubiquitinates HIF1A, leading to stabilize HIF1A and enhance HIF1A-mediated activity. Mediates deubiquitination of both \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(7163,'UniProt Function',NULL,8662,NULL,'May play a role in endocytosis and/or membrane trafficking at the trans-Golgi network (TGN). May act by linking the adapter protein complex AP-1 to other proteins.',NULL,NULL,NULL,NULL,NULL),(7164,'UniProt Function',NULL,8663,NULL,'Involved in the ubiquitin-dependent proteolytic pathway in conjunction with the 26S proteasome (By similarity). Deubiquitinates the androgen receptor and regulates the androgen receptor signaling pathway.',NULL,NULL,NULL,NULL,NULL),(7165,'UniProt Function',NULL,8664,NULL,'Regulator of UV-induced DNA damage response: acts as a \'reader\' of ubiquitinated PCNA that enhances RAD18-mediated PCNA ubiquitination and translesion DNA synthesis (TLS). Recruited to sites of UV damage and interacts with ubiquitinated PCNA and RAD18, the E3 ubiquitin ligase that monoubiquitinates PCNA. Facilitates chromatin association of RAD18 and is required for efficient PCNA monoubiquitination, promoting a feed-forward loop to enhance PCNA ubiquitination and translesion DNA synthesis. Acts as a regulator of TLS by recruiting VCP/p97 to sites of DNA damage, possibly leading to extraction of DNA polymerase eta (POLH) by VCP/p97 to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage.',NULL,NULL,NULL,NULL,NULL),(7166,'UniProt Function',NULL,8665,NULL,'Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(7167,'UniProt Function',NULL,8666,NULL,'Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(7168,'UniProt Function',NULL,8667,NULL,'Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote pausing by inhibition of the transcription elongation factor TFIIS/S-II. TFIIS/S-II binds to RNA polymerase II at transcription pause sites and stimulates the weak intrinsic nuclease activity of the enzyme. Cleavage of blocked transcripts by RNA polymerase II promotes the resumption of transcription from the new 3\' terminus and may allow repeated attempts at transcription through natural pause sites. DSIF can also positively regulate transcriptional elongation and is required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. DSIF acts to suppress transcriptional pausing in transcripts derived from the HIV-1 LTR and blocks premature release of HIV-1 transcripts at terminator sequences.',NULL,NULL,NULL,NULL,NULL),(7169,'UniProt Function',NULL,8668,NULL,'Transcription elongation factor which binds histone H3 and plays a key role in the regulation of transcription elongation and mRNA processing. Enhances the transcription elongation by RNA polymerase II (RNAPII) and is also required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. Besides chaperoning histones in transcription, acts to transport and splice mRNA by forming a complex with IWS1 and the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2), to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription. SUPT6H via its association with SETD1A, regulates both class-switch recombination and somatic hypermutation through formation of H3K4me3 epigenetic marks on activation-induced cytidine deaminase (AICDA) target loci. Promotes the activation of the myogenic gene program by entailing erasure of the repressive H3K27me3 epigenetic mark through stabilization of the chromatin interaction of the H3K27 demethylase KDM6A.',NULL,NULL,NULL,NULL,NULL),(7170,'UniProt Function',NULL,8669,NULL,'Involved in the formation of sperm acrosome, which implicated its potential role in spermatogenesis and sperm-egg fusion.',NULL,NULL,NULL,NULL,NULL),(7171,'UniProt Function',NULL,8672,NULL,'Synthesizes selenophosphate from selenide and ATP.',NULL,NULL,NULL,NULL,NULL),(7172,'UniProt Function',NULL,8673,NULL,'May be involved in meiosis.',NULL,NULL,NULL,NULL,NULL),(7173,'UniProt Function',NULL,8674,NULL,'Catalyzes the specific attachment of an amino acid to its cognate tRNA in a two step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Exhibits a post-transfer editing activity to hydrolyze mischarged tRNAs.',NULL,NULL,NULL,NULL,NULL),(7174,'UniProt Function',NULL,8675,NULL,'Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for chromosome loading of the central element-specific SCS proteins, and for initiating synapsis between homologous chromosomes. Chromosome loading appears to require SYCP1. Required for fertility.',NULL,NULL,NULL,NULL,NULL),(7175,'UniProt Function',NULL,8676,NULL,'Major component of the axial/lateral elements of synaptonemal complexes (SCS) during meiotic prophase. Plays a role in the assembly of synaptonemal complexes. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility. Required for insertion of SYCP3 into synaptonemal complexes. May be involved in the organization of chromatin by temporarily binding to DNA scaffold attachment regions. Requires SYCP3, but not SYCP1, in order to be incorporated into the axial/lateral elements.',NULL,NULL,NULL,NULL,NULL),(7176,'UniProt Function',NULL,8677,NULL,'Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu).',NULL,NULL,NULL,NULL,NULL),(7177,'UniProt Function',NULL,8678,NULL,'Glutamine--tRNA ligase (PubMed:26869582). Plays a critical role in brain development (PubMed:24656866).',NULL,NULL,NULL,NULL,NULL),(7178,'UniProt Function',NULL,8679,NULL,'May negatively regulate the ATPase activity of VCP, an ATP-driven segregase that associates with different cofactors to control a wide variety of cellular processes (PubMed:26475856). As a cofactor of VCP, it may play a role in the transport of CAV1 to lysosomes for degradation (PubMed:21822278, PubMed:23335559). It may also play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins (PubMed:19275885). Together with VCP and other cofactors, it may play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622).',NULL,NULL,NULL,NULL,NULL),(7179,'UniProt Function',NULL,8680,NULL,'Ca(2+) sensor specifically required for the Ca(2+)-dependent exocytosis of secretory vesicles containing IGF1 in neurons of the olfactory bulb. Exocytosis of IGF1 is required for sensory perception of smell. Not involved in Ca(2+)-dependent synaptic vesicle exocytosis (By similarity). Acts through Ca(2+) and phospholipid binding to the C2 domain: Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(7180,'UniProt Function',NULL,8681,NULL,'May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues.',NULL,NULL,NULL,NULL,NULL),(7181,'UniProt Function',NULL,8682,NULL,'May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. May mediate Ca(2+)-regulation of exocytosis in acrosomal reaction in sperm (By similarity).',NULL,NULL,NULL,NULL,NULL),(7182,'UniProt Function',NULL,8683,NULL,'Ca(2+) sensor involved in Ca(2+)-dependent exocytosis of secretory and synaptic vesicles through Ca(2+) and phospholipid binding to the C2 domain (By similarity). Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). SYT7 binds Ca(2+) with high affinity and slow kinetics compared to other synaptotagmins (By similarity). Involved in Ca(2+)-triggered lysosomal exocytosis, a major component of the plasma membrane repair (PubMed:11342594). Ca(2+)-regulated delivery of lysosomal membranes to the cell surface is also involved in the phagocytic uptake of particles by macrophages (By similarity). Ca(2+)-triggered lysosomal exocytosis also plays a role in bone remodeling by regulating secretory pathways in osteoclasts and osteoblasts (By similarity). In case of infection, involved in participates cell invasion by Trypanosoma cruzi via Ca(2+)-triggered lysosomal exocytosis (PubMed:11342594, PubMed:15811535). Involved in cholesterol transport from lysosome to peroxisome by promoting membrane contacts between lysosomes and peroxisomes: probably acts by promoting vesicle fusion by binding phosphatidylinositol-4,5-bisphosphate on peroxisomal membranes (By similarity). Acts as a key mediator of synaptic facilitation, a process also named short-term synaptic potentiation: synaptic facilitation takes place at synapses with a low initial release probability and is caused by influx of Ca(2+) into the axon terminal after spike generation, increasing the release probability of neurotransmitters (By similarity). Probably mediates synaptic facilitation by directly increasing the probability of release (By similarity). May also contribute to synaptic facilitation by regulating synaptic vesicle replenishment, a process required to ensure that synaptic vesicles are ready for the arrival of the next action potential: SYT7 is required for synaptic vesicle replenishment by acting as a sensor for Ca(2+) and by forming a complex with calmodulin (By similarity). Also acts as a regulator of Ca(2+)-dependent insulin and glucagon secretion in beta-cells (By similarity). Triggers exocytosis by promoting fusion pore opening and fusion pore expansion in chromaffin cells (By similarity). Also regulates the secretion of some non-synaptic secretory granules of specialized cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(7183,'UniProt Function',NULL,8684,NULL,'Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage.',NULL,NULL,NULL,NULL,NULL),(7184,'UniProt Function',NULL,8685,NULL,'Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr) (PubMed:25824639). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage (By similarity).',NULL,NULL,NULL,NULL,NULL),(7185,'UniProt Function',NULL,8686,NULL,'May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(7186,'UniProt Function',NULL,8687,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.',NULL,NULL,NULL,NULL,NULL),(7187,'UniProt Function',NULL,8688,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.',NULL,NULL,NULL,NULL,NULL),(7188,'UniProt Function',NULL,8689,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7189,'UniProt Function',NULL,8690,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7190,'UniProt Function',NULL,8691,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.',NULL,NULL,NULL,NULL,NULL),(7191,'UniProt Function',NULL,8692,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.',NULL,NULL,NULL,NULL,NULL),(7192,'UniProt Function',NULL,8693,NULL,'UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity).',NULL,NULL,NULL,NULL,NULL),(7193,'UniProt Function',NULL,8695,NULL,'Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with MAP6. May act by inhibiting retrograde transport of lysosomes along dendrites. Required for dendrite branching.',NULL,NULL,NULL,NULL,NULL),(7194,'UniProt Function',NULL,8698,NULL,'Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. In the TIM22 complex, it may act as a docking point for the soluble 70 kDa complex that guides the target proteins in transit through the aqueous mitochondrial intermembrane space.',NULL,NULL,NULL,NULL,NULL),(7195,'UniProt Function',NULL,8699,NULL,'Isoform 1: Membrane-associated form that antagonizes canonical Wnt signaling by triggering lysosome-dependent degradation of Wnt-activated LRP6. Regulates thymocyte proliferation.',NULL,NULL,NULL,NULL,NULL),(7196,'UniProt Function',NULL,8700,NULL,'May serve as a cell-surface marker for oligodendrocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(7197,'UniProt Function',NULL,8703,NULL,'Modulator of macroautophagy that causes accumulation of autophagosomes under basal conditions and enhances autophagic flux (PubMed:25929859). Represses cell death and promotes long-term clonogenic survival of cells grown in the absence of glucose in a macroautophagy-independent manner (PubMed:25929859). May have some role in extracellular matrix engulfment or growth factor receptor recycling, both of which can modulate cell survival (PubMed:25929859).',NULL,NULL,NULL,NULL,NULL),(7198,'UniProt Function',NULL,8704,NULL,'Receptor for netrin required for axon guidance. Functions in the netrin signaling pathway and promotes neurite outgrowth in response to NTN1. Mediates axon repulsion of neuronal growth cones in the developing nervous system in response to netrin. Axon repulsion in growth cones may be mediated by its association with DCC that may trigger signaling for repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand.',NULL,NULL,NULL,NULL,NULL),(7199,'UniProt Function',NULL,8705,NULL,'Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding. Axon repulsion in growth cones may be caused by its association with DCC that may trigger signaling for repulsion (By similarity). Functions as netrin receptor that negatively regulates vascular branching during angiogenesis. Mediates retraction of tip cell filopodia on endothelial growth cones in response to netrin (By similarity). It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand (PubMed:12598906). Mediates apoptosis by activating DAPK1. In the absence of NTN1, activates DAPK1 by reducing its autoinhibitory phosphorylation at Ser-308 thereby increasing its catalytic activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(7200,'UniProt Function',NULL,8706,NULL,'TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation.',NULL,NULL,NULL,NULL,NULL),(7201,'UniProt Function',NULL,8707,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency (By similarity).',NULL,NULL,NULL,NULL,NULL),(7202,'UniProt Function',NULL,8708,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7203,'UniProt Function',NULL,8709,NULL,'TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation. This subunit shows ATP-dependent DNA-helicase activity.',NULL,NULL,NULL,NULL,NULL),(7204,'UniProt Function',NULL,8710,NULL,'Catalyzes the dehydration of trans-3-hydroxy-L-proline to Delta(1)-pyrroline-2-carboxylate (Pyr2C). May be required to degrade trans-3-hydroxy-L-proline from the diet and originating from the degradation of proteins such as collagen-IV that contain it.',NULL,NULL,NULL,NULL,NULL),(7205,'UniProt Function',NULL,8711,NULL,'Polytopic transmembrane protein that inhibits regulated intramembrane proteolysis (RIP) of CREB3L1, inhibiting its activation and the induction of collagen synthesis (PubMed:25310401, PubMed:27499293). In response to ceramide, which alters TM4SF20 membrane topology, stimulates RIP activation of CREB3L1 (PubMed:27499293). Ceramide reverses the direction through which transmembrane helices are translocated into the endoplasmic reticulum membrane during translation of TM4SF20, this mechanism is called \'regulated alternative translocation\' (RAT) and regulates the function of the transmembrane protein (PubMed:27499293).',NULL,NULL,NULL,NULL,NULL),(7206,'UniProt Function',NULL,8712,NULL,'Regulates the adhesive and proliferative status of intestinal epithelial cells. Can mediate density-dependent cell proliferation.',NULL,NULL,NULL,NULL,NULL),(7207,'UniProt Function',NULL,8714,NULL,'May play a significant role in p53/TP53-mediating signaling pathway.',NULL,NULL,NULL,NULL,NULL),(7208,'UniProt Function',NULL,8715,NULL,'Antiproliferative and proapoptotic protein involved in cell stress response which acts as a dual regulator of transcription and autophagy. Acts as a positive regulator of autophagy. In response to cellular stress or activation of autophagy, relocates to autophagosomes where it interacts with autophagosome-associated proteins GABARAP, GABARAPL1/L2, MAP1LC3A/B/C and regulates autophagy. Acts as an antioxidant and plays a major role in p53/TP53-driven oxidative stress response. Possesses both a p53/TP53-independent intracellular reactive oxygen species (ROS) regulatory function and a p53/TP53-dependent transcription regulatory function. Positively regulates p53/TP53 and p73/TP73 and stimulates their capacity to induce apoptosis and regulate cell cycle. In response to double-strand DNA breaks, promotes p53/TP53 phosphorylation on \'Ser-46\' and subsequent apoptosis. Acts as a tumor suppressor by inducing cell death by an autophagy and caspase-dependent mechanism. Can reduce cell migration by regulating the expression of SPARC.',NULL,NULL,NULL,NULL,NULL),(7209,'UniProt Function',NULL,8716,NULL,'Dual regulator of transcription and autophagy. Positively regulates autophagy and is required for autophagosome formation and processing. May act as a scaffold protein that recruits MAP1LC3A, GABARAP and GABARAPL2 and brings them to the autophagosome membrane by interacting with VMP1 where, in cooperation with the BECN1-PI3-kinase class III complex, they trigger autophagosome development. Acts as a transcriptional activator of THRA.',NULL,NULL,NULL,NULL,NULL),(7210,'UniProt Function',NULL,8717,NULL,'Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5.',NULL,NULL,NULL,NULL,NULL),(7211,'UniProt Function',NULL,8718,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(7212,'UniProt Function',NULL,8720,NULL,'May participate in a protein complex showing an E3 ligase activity regulated by RAC1. Ubiquitination is directed towards itself and possibly other substrates, such as SMARCD2/BAF60b. Intrinsic E3 ligase activity has not been proven.',NULL,NULL,NULL,NULL,NULL),(7213,'UniProt Function',NULL,8721,NULL,'Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood.',NULL,NULL,NULL,NULL,NULL),(7214,'UniProt Function',NULL,8722,NULL,'Sequence-specific RNA-binding protein which plays an important role in the establishment and maintenance of the early morphology of cortical neurons during embryonic development. Acts as a translation repressor and controls a translationally regulated cell morphology program to ensure proper structuring of the nervous system. Translational control depends on recognition of its binding element within target mRNAs which consists of a mandatory UAG trimer upstream of a U/A-rich motif. Associated with polysomes (PubMed:25737280).',NULL,NULL,NULL,NULL,NULL),(7215,'UniProt Function',NULL,8723,NULL,'May be an important signaling intermediate between TGFB receptors and MAP3K7/TAK1. May play an important role in mammalian embryogenesis.',NULL,NULL,NULL,NULL,NULL),(7216,'UniProt Function',NULL,8724,NULL,'Adapter linking MAP3K7/TAK1 and TRAF6. Promotes MAP3K7 activation in the IL1 signaling pathway. The binding of \'Lys-63\'-linked polyubiquitin chains to TAB2 promotes autophosphorylation of MAP3K7 at \'Thr-187\'. Involved in heart development.',NULL,NULL,NULL,NULL,NULL),(7217,'UniProt Function',NULL,8725,NULL,'Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). May play a role in organizing centrosomal microtubules. May act as a tumor suppressor protein. May represent a tumor progression marker.',NULL,NULL,NULL,NULL,NULL),(7218,'UniProt Function',NULL,8726,NULL,'Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:21297582, PubMed:23532825). May be involved in the control of cell growth and differentiation. May contribute to cancer (PubMed:14767476).',NULL,NULL,NULL,NULL,NULL),(7219,'UniProt Function',NULL,8727,NULL,'May function as a growth factor receptor.',NULL,NULL,NULL,NULL,NULL),(7220,'UniProt Function',NULL,8728,NULL,'Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1.',NULL,NULL,NULL,NULL,NULL),(7221,'UniProt Function',NULL,8729,NULL,'Acts as a receptor for urokinase plasminogen activator. Plays a role in localizing and promoting plasmin formation. Mediates the proteolysis-independent signal transduction activation effects of U-PA. It is subject to negative-feedback regulation by U-PA which cleaves it into an inactive form.',NULL,NULL,NULL,NULL,NULL),(7222,'UniProt Function',NULL,8730,NULL,'Probably involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(7223,'UniProt Function',NULL,8731,NULL,'Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity).',NULL,NULL,NULL,NULL,NULL),(7224,'UniProt Function',NULL,8732,NULL,'Component of RNA polymerase I core factor complex that acts as a GTF2B/TFIIB-like factor and plays a key role in multiple steps during transcription initiation such as pre-initiation complex (PIC) assembly and postpolymerase recruitment events in polymerase I (Pol I) transcription. Binds rDNA promoters and plays a role in Pol I recruitment as a component of the SL1/TIF-IB complex and, possibly, directly through its interaction with RRN3.',NULL,NULL,NULL,NULL,NULL),(7225,'UniProt Function',NULL,8733,NULL,'Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits.',NULL,NULL,NULL,NULL,NULL),(7226,'UniProt Function',NULL,8734,NULL,'May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced.',NULL,NULL,NULL,NULL,NULL),(7227,'UniProt Function',NULL,8735,NULL,'Component of the DNA-binding general RNA polymerase II transcription factor IID complex (TFIID). TFIID plays a critical role in the regulation of gene transcription in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(7228,'UniProt Function',NULL,8736,NULL,'Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex.',NULL,NULL,NULL,NULL,NULL),(7229,'UniProt Function',NULL,8737,NULL,'Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex.',NULL,NULL,NULL,NULL,NULL),(7230,'UniProt Function',NULL,8738,NULL,'Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. It requires core promoter-specific cofactors for productive transcription stimulation. TAF2 stabilizes TFIID binding to core promoter.',NULL,NULL,NULL,NULL,NULL),(7231,'UniProt Function',NULL,8739,NULL,'Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Required in complex with TBPL2 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process.',NULL,NULL,NULL,NULL,NULL),(7232,'UniProt Function',NULL,8740,NULL,'Probably functions as a spermatogensis-specific component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. May play a role in spermatogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(7233,'UniProt Function',NULL,8741,NULL,'Major component of the transverse filaments of synaptonemal complexes, formed between homologous chromosomes during meiotic prophase. Required for normal assembly of the central element of the synaptonemal complexes. Required for normal centromere pairing during meiosis. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility.',NULL,NULL,NULL,NULL,NULL),(7234,'UniProt Function',NULL,8743,NULL,'Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. May play a role in noradrenaline secretion by sympathetic neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(7235,'UniProt Function',NULL,8744,NULL,'May be involved in the regulation of neurotransmitter release and synaptogenesis.',NULL,NULL,NULL,NULL,NULL),(7236,'UniProt Function',NULL,8745,NULL,'Atypical type III intermediate filament (IF) protein that may play a supportive role in the efficient coupling of mechanical stress between the myofibril and fiber exterior. May facilitate lateral force transmission during skeletal muscle contraction. Does not form homofilaments nor heterofilaments with other IF proteins.',NULL,NULL,NULL,NULL,NULL),(7237,'UniProt Function',NULL,8746,NULL,'Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis (PubMed:25288775). Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1 (PubMed:17443684).',NULL,NULL,NULL,NULL,NULL),(7238,'UniProt Function',NULL,8748,NULL,'TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TAFs components-TIIFD are essential for mediating regulation of RNA polymerase transcription. TAF5/TAFII100 interacts strongly with the histone H4-related TAF6/TAFII80 and the histone H3-related TAF9/TAFII31, as well as a stable complex comprised of both TAF5/TAFII80 and TAF6/TAFII31. Apparently weaker interactions of TAF5/TAFII100 with TBP, TAF1/TAFII250, TAF11/TAFII28, and TAF12/TAFII20, but not TAF7/TAFII55, also have been observed.',NULL,NULL,NULL,NULL,NULL),(7239,'UniProt Function',NULL,8749,NULL,'Functions as a component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Present in both of the previously described TFIID species which either lack or contain TAFII30 (TFIID alpha and TFIID beta respectively).',NULL,NULL,NULL,NULL,NULL),(7240,'UniProt Function',NULL,8750,NULL,'Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. Mediates both basal and activator-dependent transcription. Plays a role in the differentiation of preadipocyte fibroblasts to adipocytes, however, does not seem to play a role in differentiation of myoblasts. Required for the integration of TAF10 in the TAF complex. May be important for survival of cells of the inner cell mass which constitute the pluripotent cell population of the early embryo (By similarity).',NULL,NULL,NULL,NULL,NULL),(7241,'UniProt Function',NULL,8751,NULL,'Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription.',NULL,NULL,NULL,NULL,NULL),(7242,'UniProt Function',NULL,8752,NULL,'May be a scaffold component in the postsynaptic density.',NULL,NULL,NULL,NULL,NULL),(7243,'UniProt Function',NULL,8753,NULL,'Serine/threonine-protein kinase involved in various processes such as p38/MAPK14 stress-activated MAPK cascade, DNA damage response and regulation of cytoskeleton stability. Phosphorylates MAP2K3, MAP2K6 and MARK2. Acts as an activator of the p38/MAPK14 stress-activated MAPK cascade by mediating phosphorylation and subsequent activation of the upstream MAP2K3 and MAP2K6 kinases. Involved in G-protein coupled receptor signaling to p38/MAPK14. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of MAP2K3 and MAP2K6. Acts as a regulator of cytoskeleton stability by phosphorylating \'Thr-208\' of MARK2, leading to activate MARK2 kinase activity and subsequent phosphorylation and detachment of MAPT/TAU from microtubules. Also acts as a regulator of apoptosis: regulates apoptotic morphological changes, including cell contraction, membrane blebbing and apoptotic bodies formation via activation of the MAPK8/JNK cascade.',NULL,NULL,NULL,NULL,NULL),(7244,'UniProt Function',NULL,8755,NULL,'Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7245,'UniProt Function',NULL,8756,NULL,'May act as a GTPase-activating protein for Rab family protein(s).',NULL,NULL,NULL,NULL,NULL),(7246,'UniProt Function',NULL,8757,NULL,'Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(7247,'UniProt Function',NULL,8758,NULL,'Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane (PubMed:10722852, PubMed:10831612, PubMed:11847227, PubMed:20740604, PubMed:27666370, PubMed:28158450). Required for correct assembly and maintenance of the mitotic spindle, and proper progression of mitosis (PubMed:27666370). Involved in neuron morphogenesis (PubMed:27666374).',NULL,NULL,NULL,NULL,NULL),(7248,'UniProt Function',NULL,8759,NULL,'Acts as a regulator of tubulin stability.',NULL,NULL,NULL,NULL,NULL),(7249,'UniProt Function',NULL,8760,NULL,'RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies (PubMed:29804836, PubMed:29695869). Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC) (PubMed:19285445, PubMed:20351177, PubMed:29804836, PubMed:29695869). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes (PubMed:19179534, PubMed:20351177, PubMed:26170453, PubMed:29695869). In the telomerase holoenzyme complex, required to stimulate the catalytic activity of the complex (PubMed:27525486, PubMed:29804836). Acts by specifically binding the CAB box of the TERC RNA and controlling the folding of the CR4/CR5 region of the TERC RNA, a critical step for telomerase activity (PubMed:29804836). In addition, also controls telomerase holoenzyme complex localization to Cajal body (PubMed:22547674). During S phase, required for delivery of TERC to telomeres during S phase and for telomerase activity (PubMed:29804836). In addition to its role in telomere maintenance, also required for Cajal body formation, probably by mediating localization of scaRNAs to Cajal bodies (PubMed:19285445, PubMed:21072240). Also plays a role in DNA repair: phosphorylated by ATM in response to DNA damage and relocalizes to sites of DNA double-strand breaks to promote the repair of DNA double-strand breaks (PubMed:25512560, PubMed:27715493). Acts by recruiting the ubiquitin ligase RNF8 to DNA breaks and promote both homologous recombination (HR) and non-homologous end joining (NHEJ) (PubMed:25512560, PubMed:27715493).',NULL,NULL,NULL,NULL,NULL),(7250,'UniProt Function',NULL,8761,NULL,'Probably plays a role as positive regulator of autophagy.',NULL,NULL,NULL,NULL,NULL),(7251,'UniProt Function',NULL,8762,NULL,'May function as an early transcriptional regulator, involved in the patterning of the mesoderm and in lineage determination of cell types derived from the mesoderm.',NULL,NULL,NULL,NULL,NULL),(7252,'UniProt Function',NULL,8763,NULL,'Potential trans-activating factor that could play an important role in the transcription of genes required for the later stages of cell cycle progression.',NULL,NULL,NULL,NULL,NULL),(7253,'UniProt Function',NULL,8764,NULL,'One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals.',NULL,NULL,NULL,NULL,NULL),(7254,'UniProt Function',NULL,8765,NULL,'Multifunctional protein which is primarily part of the aminoacyl-tRNA synthetase multienzyme complex, also know as multisynthetase complex, that catalyzes the attachment of the cognate amino acid to the corresponding tRNA in a two-step reaction: the amino acid is first activated by ATP to form a covalent intermediate with AMP and is then transferred to the acceptor end of the cognate tRNA (PubMed:1756734, PubMed:24100331, PubMed:23263184). The phosphorylation of EPRS, induced by interferon-gamma, dissociates the protein from the aminoacyl-tRNA synthetase multienzyme complex and recruits it to the GAIT complex that binds to stem loop-containing GAIT elements in the 3\'-UTR of diverse inflammatory mRNAs (such as ceruplasmin), suppressing their translation. Interferon-gamma can therefore redirect, in specific cells, the EPRS function from protein synthesis to translation inhibition (PubMed:15479637, PubMed:23071094). Also functions as an effector of the mTORC1 signaling pathway by promoting, through SLC27A1, the uptake of long-chain fatty acid by adipocytes. Thereby, it also plays a role in fat metabolism and more indirectly influences lifespan (PubMed:28178239).',NULL,NULL,NULL,NULL,NULL),(7255,'UniProt Function',NULL,8767,NULL,'Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenenis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette.',NULL,NULL,NULL,NULL,NULL),(7256,'UniProt Function',NULL,8768,NULL,'Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors and EGFR, on the cell surface. Exhibits tyrosine phosphatase activity toward several substrates including EGFR, FAK, SYK, and ZAP70. Down-regulates proteins that are dually modified by both protein tyrosine phosphorylation and ubiquitination.',NULL,NULL,NULL,NULL,NULL),(7257,'UniProt Function',NULL,8770,NULL,'Some isoforms may be involved in cardiolipin (CL) metabolism.',NULL,NULL,NULL,NULL,NULL),(7258,'UniProt Function',NULL,8771,NULL,'Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity). May be involved in cell migration.',NULL,NULL,NULL,NULL,NULL),(7259,'UniProt Function',NULL,8772,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.',NULL,NULL,NULL,NULL,NULL),(7260,'UniProt Function',NULL,8773,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.',NULL,NULL,NULL,NULL,NULL),(7261,'UniProt Function',NULL,8774,NULL,'Plays a role in the regulation of centrosome and Golgi apparatus positioning, with consequences on cell shape and cell migration.',NULL,NULL,NULL,NULL,NULL),(7262,'UniProt Function',NULL,8775,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.',NULL,NULL,NULL,NULL,NULL),(7263,'UniProt Function',NULL,8777,NULL,'Acts as a GTPase activating protein for RAB7A. Does not act on RAB4, RAB5 or RAB6 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7264,'UniProt Function',NULL,8778,NULL,'Probable GTPase-activating protein for Rab8; its transient association with Rab8 is mediated by OPTN. Inhibits Rab8-mediated endocytic trafficking, such as of transferrin receptor (TfR) and reduces Rab8 recruitnment to tubules emanating from the endocytic recycling compartment (ERC). Involved in regulation of autophagy. Mediates inhibition of autophagy caused by the OPTN variant GLC1E LYS-50; the function requires its catalytic activity, however, the involved Rab is not known.',NULL,NULL,NULL,NULL,NULL),(7265,'UniProt Function',NULL,8779,NULL,'May act as a GTPase-activating protein for Rab family protein(s).',NULL,NULL,NULL,NULL,NULL),(7266,'UniProt Function',NULL,8780,NULL,'Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7267,'UniProt Function',NULL,8781,NULL,'Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7268,'UniProt Function',NULL,8782,NULL,'Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network.',NULL,NULL,NULL,NULL,NULL),(7269,'UniProt Function',NULL,8783,NULL,'Transcription factor required in complex with TAF3 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process (By similarity).',NULL,NULL,NULL,NULL,NULL),(7270,'UniProt Function',NULL,8784,NULL,'Binds vitamin B12 with femtomolar affinity and protects it from the acidic environment of the stomach.',NULL,NULL,NULL,NULL,NULL),(7271,'UniProt Function',NULL,8785,NULL,'Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells.',NULL,NULL,NULL,NULL,NULL),(7272,'UniProt Function',NULL,8786,NULL,'Enhances the phosphorylation and activation of AKT1, AKT2 and AKT3. Promotes nuclear translocation of AKT1. Enhances cell proliferation, stabilizes mitochondrial membrane potential and promotes cell survival.',NULL,NULL,NULL,NULL,NULL),(7273,'UniProt Function',NULL,8788,NULL,'Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere recombination and is essential for repressing homology-directed repair (HDR), which can affect telomere length. Does not bind DNA directly: recruited to telomeric double-stranded 5\'-TTAGGG-3\' repeats via its interaction with TERF2. Independently of its function in telomeres, also acts as a transcription regulator: recruited to extratelomeric 5\'-TTAGGG-3\' sites via its association with TERF2 or other factors, and regulates gene expression. When cytoplasmic, associates with the I-kappa-B-kinase (IKK) complex and acts as a regulator of the NF-kappa-B signaling by promoting IKK-mediated phosphorylation of RELA/p65, leading to activate expression of NF-kappa-B target genes.',NULL,NULL,NULL,NULL,NULL),(7274,'UniProt Function',NULL,8789,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(7275,'UniProt Function',NULL,8790,NULL,'May be a survival factor for hippocampal and mesencephalic neurons. The shedded form up-regulates cancer cell proliferation, probably by promoting ERK1/2 phosphorylation.',NULL,NULL,NULL,NULL,NULL),(7276,'UniProt Function',NULL,8791,NULL,'Involved in neural development, regulating the establishment of proper connectivity within the nervous system. May function as a cellular signal transducer (By similarity).',NULL,NULL,NULL,NULL,NULL),(7277,'UniProt Function',NULL,8791,NULL,'Teneurin C-terminal-associated peptide: Plays a role in the regulation of neuroplasticity in the limbic system. Mediates a rapid reorganization of actin- and tubulin-based cytoskeleton elements with an increase in dendritic arborization and spine density formation of neurons in the hippocampus and amygdala. Induces BDNF transcription inhibition in neurons. Activates the mitogen-activated protein (MAP) kinase 2 (MEK2) and extracellular signal-regulated kinase (ERK) cascade. Acts also as a bioactive neuroprotective peptide on limbic neurons of the brain and regulates stress-induced behavior: attenuates alkalosis-associated necrotic cell death and the effects of corticotropin-releasing factor (CRF) on c-fos/FOS induction and on the reinstatement of cocaine seeking (By similarity).',NULL,NULL,NULL,NULL,NULL),(7278,'UniProt Function',NULL,8791,NULL,'Ten-1 intracellular domain: Induces gene transcription activation.',NULL,NULL,NULL,NULL,NULL),(7279,'UniProt Function',NULL,8792,NULL,'Acts as transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area.',NULL,NULL,NULL,NULL,NULL),(7280,'UniProt Function',NULL,8793,NULL,'Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable).',NULL,NULL,NULL,NULL,NULL),(7281,'UniProt Function',NULL,8794,NULL,'Tethering factor involved in autophagy. Involved in autophagosome maturation by promoting the autophagosome fusion with lysosomes: acts by associating with both the ATG5-ATG12 conjugate and phosphatidylinositol-3-phosphate (PtdIns(3)P) present at the surface of autophagosomes. Also involved in selective autophagy against bacterial pathogens, by being required for phagophore/preautophagosomal structure biogenesis and maturation.',NULL,NULL,NULL,NULL,NULL),(7282,'UniProt Function',NULL,8795,NULL,'Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). The TRiC complex plays a role in the folding of actin and tubulin (Probable).',NULL,NULL,NULL,NULL,NULL),(7283,'UniProt Function',NULL,8796,NULL,'One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals.',NULL,NULL,NULL,NULL,NULL),(7284,'UniProt Function',NULL,8797,NULL,'Non-receptor tyrosine kinase that contributes to signaling from many receptors and participates as a signal transducer in multiple downstream pathways, including regulation of the actin cytoskeleton. Plays a redundant role to ITK in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. Required for TCR-dependent IL2 gene induction. Phosphorylates DOK1, one CD28-specific substrate, and contributes to CD28-signaling. Mediates signals that negatively regulate IL2RA expression induced by TCR cross-linking. Plays a redundant role to BTK in BCR-signaling for B-cell development and activation, especially by phosphorylating STAP1, a BCR-signaling protein. Required in mast cells for efficient cytokine production. Involved in both growth and differentiation mechanisms of myeloid cells through activation by the granulocyte colony-stimulating factor CSF3, a critical cytokine to promoting the growth, differentiation, and functional activation of myeloid cells. Participates in platelet signaling downstream of integrin activation. Cooperates with JAK2 through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. GRB10, a negative modifier of the FOS activation pathway, is another substrate of TEC. TEC is involved in G protein-coupled receptor- and integrin-mediated signalings in blood platelets. Plays a role in hepatocyte proliferation and liver regeneration and is involved in HGF-induced ERK signaling pathway. TEC regulates also FGF2 unconventional secretion (endoplasmic reticulum (ER)/Golgi-independent mechanism) under various physiological conditions through phosphorylation of FGF2 \'Tyr-215\'. May also be involved in the regulation of osteoclast differentiation.',NULL,NULL,NULL,NULL,NULL),(7285,'UniProt Function',NULL,8798,NULL,'Binds the telomeric double-stranded 5\'-TTAGGG-3\' repeat and negatively regulates telomere length. Involved in the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5\'-TTAGGG-3\' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways.',NULL,NULL,NULL,NULL,NULL),(7286,'UniProt Function',NULL,8799,NULL,'Binds the telomeric double-stranded 5\'-TTAGGG-3\' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes. In addition to its telomeric DNA-binding role, required to recruit a number of factors and enzymes required for telomere protection, including the shelterin complex, TERF2IP/RAP1 and DCLRE1B/Apollo. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5\'-TTAGGG-3\' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Together with DCLRE1B/Apollo, plays a key role in telomeric loop (T loop) formation by generating 3\' single-stranded overhang at the leading end telomeres: T loops have been proposed to protect chromosome ends from degradation and repair. Required both to recruit DCLRE1B/Apollo to telomeres and activate the exonuclease activity of DCLRE1B/Apollo. Preferentially binds to positive supercoiled DNA. Together with DCLRE1B/Apollo, required to control the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Recruits TERF2IP/RAP1 to telomeres, thereby participating in to repressing homology-directed repair (HDR), which can affect telomere length.',NULL,NULL,NULL,NULL,NULL),(7287,'UniProt Function',NULL,8801,NULL,'TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. TFIIA in a complex with TBP mediates transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(7288,'UniProt Function',NULL,8802,NULL,'May function as a testis specific transcription factor. Binds DNA in conjunction with GTF2A2 and TBP (the TATA-binding protein) and together with GTF2A2, allows mRNA transcription.',NULL,NULL,NULL,NULL,NULL),(7289,'UniProt Function',NULL,8811,NULL,'May play a role in the regulation of plasmin-mediated matrix remodeling. Inhibits trypsin, plasmin, factor VIIa/tissue factor and weakly factor Xa. Has no effect on thrombin.',NULL,NULL,NULL,NULL,NULL),(7290,'UniProt Function',NULL,8812,NULL,'Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the signaling receptors.',NULL,NULL,NULL,NULL,NULL),(7291,'UniProt Function',NULL,8813,NULL,'S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity.',NULL,NULL,NULL,NULL,NULL),(7292,'UniProt Function',NULL,8814,NULL,'Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. May play a direct role in stabilizing interactions of TFIIIC2 with TFIIIC1.',NULL,NULL,NULL,NULL,NULL),(7293,'UniProt Function',NULL,8815,NULL,'Binds a variety of cellular and viral promoters including fibrinogen, alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with UBP1 (By similarity). Functions as part of the SSP (stage selector protein) complex. Facilitates the interaction of the gamma-globin genes with enhancer elements contained in the locus control region in fetal erythroid cells. Interacts by binding to the stage selector element (SSE) in the proximal gamma-globin promoter.',NULL,NULL,NULL,NULL,NULL),(7294,'UniProt Function',NULL,8816,NULL,'Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2.',NULL,NULL,NULL,NULL,NULL),(7295,'UniProt Function',NULL,8816,NULL,'Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:25266290). Functions predominantly in APPL1-containing endosomes and in degradative but not recycling trafficking of endocytosed cargo (PubMed:25266290).',NULL,NULL,NULL,NULL,NULL),(7296,'UniProt Function',NULL,8817,NULL,'Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters.',NULL,NULL,NULL,NULL,NULL),(7297,'UniProt Function',NULL,8818,NULL,'NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The heterodimeric RELA-NFKB1 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. The NF-kappa-B heterodimeric RELA-NFKB1 and RELA-REL complexes, for instance, function as transcriptional activators. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. The inhibitory effect of I-kappa-B on NF-kappa-B through retention in the cytoplasm is exerted primarily through the interaction with RELA. RELA shows a weak DNA-binding site which could contribute directly to DNA binding in the NF-kappa-B complex. Beside its activity as a direct transcriptional activator, it is also able to modulate promoters accessibility to transcription factors and thereby indirectly regulate gene expression. Associates with chromatin at the NF-kappa-B promoter region via association with DDX1. Essential for cytokine gene expression in T-cells (PubMed:15790681). The NF-kappa-B homodimeric RELA-RELA complex appears to be involved in invasin-mediated activation of IL-8 expression.',NULL,NULL,NULL,NULL,NULL),(7298,'UniProt Function',NULL,8819,NULL,'Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(7299,'UniProt Function',NULL,8820,NULL,'Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5\'-CCTTTGATC-3\' in the presence of CTNNB1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of dominant-negative mutants results in cell-cycle arrest in G1. Necessary for the maintenance of the epithelial stem-cell compartment of the small intestine.',NULL,NULL,NULL,NULL,NULL),(7300,'UniProt Function',NULL,8822,NULL,'Adds a GMP to the 5\'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis.',NULL,NULL,NULL,NULL,NULL),(7301,'UniProt Function',NULL,8823,NULL,'Multifunctional enzyme that has both magnesium and ATP-dependent DNA-helicase activity and 3\'->5\' exonuclease activity towards double-stranded DNA with a 5\'-overhang. Has no nuclease activity towards single-stranded DNA or blunt-ended double-stranded DNA. Binds preferentially to DNA substrates containing alternate secondary structures, such as replication forks and Holliday junctions. May play an important role in the dissociation of joint DNA molecules that can arise as products of homologous recombination, at stalled replication forks or during DNA repair. Alleviates stalling of DNA polymerases at the site of DNA lesions. Important for genomic integrity. Plays a role in the formation of DNA replication focal centers; stably associates with foci elements generating binding sites for RP-A (By similarity). Plays a role in double-strand break repair after gamma-irradiation.',NULL,NULL,NULL,NULL,NULL),(7302,'UniProt Function',NULL,8824,NULL,'The SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome. Required for the centrosomal localization of SSX2IP and normal mitotic bipolar spindle morphology (PubMed:26545777). Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP, CEP290 and PIBF1/CEP90. Required for ciliogenesis and involved in the removal of the CEP97:CCP110 complex from the mother centriole. Involved in ciliary vesicle formation at the mother centriole and required for the docking of vesicles to the basal body during ciliogenesis; may promote docking of RAB8A- and ARL13B-containing vesicles (PubMed:26675238).',NULL,NULL,NULL,NULL,NULL),(7303,'UniProt Function',NULL,8825,NULL,'Involved in endoplasmic reticulum-associated protein degradation (ERAD). Acts as a platform to recruit both UBQLN1 and VCP to the ER during ERAD (PubMed:19822669).',NULL,NULL,NULL,NULL,NULL),(7304,'UniProt Function',NULL,8826,NULL,'Ubiquitin-binding adapter that links a subset of NEDD8-associated cullin ring ligases (CRLs) to the segregase VCP/p97, to regulate turnover of their ubiquitination substrates.',NULL,NULL,NULL,NULL,NULL),(7305,'UniProt Function',NULL,8827,NULL,'May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.',NULL,NULL,NULL,NULL,NULL),(7306,'UniProt Function',NULL,8828,NULL,'Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain.',NULL,NULL,NULL,NULL,NULL),(7307,'UniProt Function',NULL,8829,NULL,'UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the form of heat. May play a role in thermoregulatory heat production and metabolism in brain.',NULL,NULL,NULL,NULL,NULL),(7308,'UniProt Function',NULL,8831,NULL,'Actin cross-linking/gelling protein (By similarity). Involved in calcium interactions and contractile properties of the cell that may contribute to replicative senescence.',NULL,NULL,NULL,NULL,NULL),(7309,'UniProt Function',NULL,8832,NULL,'Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3.',NULL,NULL,NULL,NULL,NULL),(7310,'UniProt Function',NULL,8833,NULL,'Protease involved in KMT2A/MLL1 processing and, consequently, in the correct expression of the early HOXA gene cluster.',NULL,NULL,NULL,NULL,NULL),(7311,'UniProt Function',NULL,8834,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.',NULL,NULL,NULL,NULL,NULL),(7312,'UniProt Function',NULL,8835,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).',NULL,NULL,NULL,NULL,NULL),(7313,'UniProt Function',NULL,8836,NULL,'May act as a GTPase-activating protein for Rab family protein(s).',NULL,NULL,NULL,NULL,NULL),(7314,'UniProt Function',NULL,8837,NULL,'This is a receptor for VIP as well as PACAP-38 and -27, the activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Can be coupled to phospholipase C.',NULL,NULL,NULL,NULL,NULL),(7315,'UniProt Function',NULL,8838,NULL,'Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7316,'UniProt Function',NULL,8839,NULL,'May act as a GTPase-activating protein for Rab family protein(s) (PubMed:19077034). May be involved in acrosome formation and cytoskeletal reorganization during spermiogenesis, possibly by regulating RAB3A activity (PubMed:21128978).',NULL,NULL,NULL,NULL,NULL),(7317,'UniProt Function',NULL,8840,NULL,'Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer (PubMed:9265649). Involved in regulation of tubulin heterodimer dissociation. May function as a negative regulator of axonal growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(7318,'UniProt Function',NULL,8841,NULL,'Putative transcription factor. Isoform 3 may play a role in early spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(7319,'UniProt Function',NULL,8842,NULL,'Tumor suppressor which has the ability to inhibit cell growth and be pro-apoptotic during cell stress. Inhibits cell growth in bladder and prostate cancer cells by a down-regulation of HSPB1 by inhibiting its phosphorylation. May act as a \'capping\' or \'branching\' protein for keratin filaments in the cell periphery. May regulate K8/K18 filament and desmosome organization mainly at the apical or peripheral regions of simple epithelial cells (PubMed:15731013, PubMed:18931701). Is a negative regulator of ciliogenesis (PubMed:25270598).',NULL,NULL,NULL,NULL,NULL),(7320,'UniProt Function',NULL,8843,NULL,'Involved in calcium binding and microtubule stabilization.',NULL,NULL,NULL,NULL,NULL),(7321,'UniProt Function',NULL,8845,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(7322,'UniProt Function',NULL,8847,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(7323,'UniProt Function',NULL,8848,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(7324,'UniProt Function',NULL,8849,NULL,'Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3\' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097).',NULL,NULL,NULL,NULL,NULL),(7325,'UniProt Function',NULL,8850,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(7326,'UniProt Function',NULL,8851,NULL,'Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Probably plays a central role at and after the meiotic phase of spermatogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(7327,'UniProt Function',NULL,8852,NULL,'Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds specifically and cooperatively to the SPH and GT-IIC \'enhansons\' (5\'-GTGGAATGT-3\') and activates transcription in vivo in a cell-specific manner. The activation function appears to be mediated by a limiting cell-specific transcriptional intermediary factor (TIF). Involved in cardiac development. Binds to the M-CAT motif.',NULL,NULL,NULL,NULL,NULL),(7328,'UniProt Function',NULL,8853,NULL,'Required for the development and maturation of T-cells, its function being essential for the late stages of thymocyte development (By similarity). Plays a role in T-cell antigen receptor (TCR)-mediated activation of the ERK and NFAT signaling pathways, possibly by serving as a scaffolding protein that promotes the assembly of the LAT signalosome in thymocytes. May play a role in the regulation of inositol 1,4,5-trisphosphate receptor-mediated Ca(2+) release and mitochondrial Ca(2+) uptake via the mitochondria-associated endoplasmic reticulum membrane (MAM) compartment.',NULL,NULL,NULL,NULL,NULL),(7329,'UniProt Function',NULL,8854,NULL,'Inhibits factor X (X(a)) directly and, in a Xa-dependent way, inhibits VIIa/tissue factor activity, presumably by forming a quaternary Xa/LACI/VIIa/TF complex. It possesses an antithrombotic action and also the ability to associate with lipoproteins in plasma.',NULL,NULL,NULL,NULL,NULL),(7330,'UniProt Function',NULL,8855,NULL,'Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum. Involved in cell proliferation (PubMed:26220141).',NULL,NULL,NULL,NULL,NULL),(7331,'UniProt Function',NULL,8857,NULL,'Putative deoxyribonuclease.',NULL,NULL,NULL,NULL,NULL),(7332,'UniProt Function',NULL,8860,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). TUBB8 has a key role in meiotic spindle assembly and oocyte maturation (PubMed:26789871).',NULL,NULL,NULL,NULL,NULL),(7333,'UniProt Function',NULL,8861,NULL,'Inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degraded by caspase-3-like family proteins upon TNF-induced apoptosis. May also play a role in the pro-inflammatory cytokine IL-1 signaling cascade.',NULL,NULL,NULL,NULL,NULL),(7334,'UniProt Function',NULL,8862,NULL,'May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projections development, probably through a negative modulation of ARF6 function (PubMed:20727515).',NULL,NULL,NULL,NULL,NULL),(7335,'UniProt Function',NULL,8863,NULL,'May act as a GTPase-activating protein.',NULL,NULL,NULL,NULL,NULL),(7336,'UniProt Function',NULL,8864,NULL,'May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose uptake into cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(7337,'UniProt Function',NULL,8865,NULL,'Adapter protein which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity.',NULL,NULL,NULL,NULL,NULL),(7338,'UniProt Function',NULL,8866,NULL,'GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.',NULL,NULL,NULL,NULL,NULL),(7339,'UniProt Function',NULL,8867,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.',NULL,NULL,NULL,NULL,NULL),(7340,'UniProt Function',NULL,8868,NULL,'F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation.',NULL,NULL,NULL,NULL,NULL),(7341,'UniProt Function',NULL,8869,NULL,'F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (By similarity).',NULL,NULL,NULL,NULL,NULL),(7342,'UniProt Function',NULL,8871,NULL,'Involved in epithelial-mesenchymal interactions in kidney and lung morphogenesis that include epithelial differentiation and branching morphogenesis. May play a role in the specification or differentiation of one or more subsets of epicardial cell types.',NULL,NULL,NULL,NULL,NULL),(7343,'UniProt Function',NULL,8872,NULL,'Possible molecular chaperone; assists the folding of proteins upon ATP hydrolysis.',NULL,NULL,NULL,NULL,NULL),(7344,'UniProt Function',NULL,8873,NULL,'Seems to be involved in the regulation of cell growth an differentiation, may play different and opposite roles depending on the tissue or cell type. May enhance the WNT-CTNNB1 pathway by relieving antagonistic activity of CBY1 (PubMed:16424001, PubMed:16730711). Enhances the proliferation of follicular dendritic cells (PubMed:16730711). Plays a role in the mitogen-activated MAPK2/3 signaling pathway, positively regulates G1-to-S-phase transition of the cell cycle (PubMed:18959821). In endothelial cells, enhances key inflammatory mediators and inflammatory response through the modulation of NF-kappaB transcriptional regulatory activity (PubMed:19684084). Involved in the regulation of heat shock response, seems to play a positive feedback with HSF1 to modulate heat-shock downstream gene expression (PubMed:17603013). Plays a role in the regulation of hematopoiesis even if the mechanisms are unknown (By similarity). In cancers such as thyroid or lung cancer, it has been described as promoter of cell proliferation, G1-to-S-phase transition and inhibitor of apoptosis (PubMed:15087392, PubMed:24941347). However, it negatively regulates self-renewal of liver cancer cells via suppresion of NOTCH2 signaling (PubMed:25985737).',NULL,NULL,NULL,NULL,NULL),(7345,'UniProt Function',NULL,8874,NULL,'Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3\'-terminus.',NULL,NULL,NULL,NULL,NULL),(7346,'UniProt Function',NULL,8875,NULL,'Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression. It stimulates the activity of various transcriptional activators such as JUN, SP1, PAX6 and ETS1, suggesting a function as a coactivator.',NULL,NULL,NULL,NULL,NULL),(7347,'UniProt Function',NULL,8876,NULL,'Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals. May be involved in telomere length regulation.',NULL,NULL,NULL,NULL,NULL),(7348,'UniProt Function',NULL,8877,NULL,'May be a structural component of the sperm flagellum. Required for normal sperm mobility.',NULL,NULL,NULL,NULL,NULL),(7349,'UniProt Function',NULL,8878,NULL,'Involved in innate immunity against invading pathogens. Adapter used by TLR3 and TLR4 (through TICAM2) to mediate NF-kappa-B and interferon-regulatory factor (IRF) activation, and to induce apoptosis. Ligand binding to these receptors results in TRIF recruitment through its TIR domain. Distinct protein-interaction motifs allow recruitment of the effector proteins TBK1, TRAF6 and RIPK1, which in turn, lead to the activation of transcription factors IRF3 and IRF7, NF-kappa-B and FADD respectively. Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines (By similarity).',NULL,NULL,NULL,NULL,NULL),(7350,'UniProt Function',NULL,8879,NULL,'Involved in fibrillar adhesion formation. May be involved in cell migration, cartilage development and in linking signal transduction pathways to the cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(7351,'UniProt Function',NULL,8880,NULL,'May play a role in actin remodeling. Involved in the dissociation of the integrin-tensin-actin complex. EGF activates TNS4 and down-regulates TNS3 which results in capping the tail of ITGB1. Seems to be involved in mammary cell migration. May be involved in cell migration and bone development (By similarity).',NULL,NULL,NULL,NULL,NULL),(7352,'UniProt Function',NULL,8881,NULL,'Initiates blood coagulation by forming a complex with circulating factor VII or VIIa. The [TF:VIIa] complex activates factors IX or X by specific limited protolysis. TF plays a role in normal hemostasis by initiating the cell-surface assembly and propagation of the coagulation protease cascade.',NULL,NULL,NULL,NULL,NULL),(7353,'UniProt Function',NULL,8882,NULL,'Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. Binds to the box B promoter element.',NULL,NULL,NULL,NULL,NULL),(7354,'UniProt Function',NULL,8883,NULL,'Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:21478858).',NULL,NULL,NULL,NULL,NULL),(7355,'UniProt Function',NULL,8885,NULL,'Acts as a negative mediator of apoptosis and may play a role in tumor progression. Suppresses the TNF-mediated apoptosis by inhibiting caspase-8 activity but not the processing of procaspase-8, subsequently resulting in inhibition of BID cleavage and caspase-3 activation.',NULL,NULL,NULL,NULL,NULL),(7356,'UniProt Function',NULL,8886,NULL,'Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(7357,'UniProt Function',NULL,8887,NULL,'Participates in the Wnt signaling pathway. Binds to DNA and acts as a repressor in the absence of CTNNB1, and as an activator in its presence. Necessary for the terminal differentiation of epidermal cells, the formation of keratohyalin granules and the development of the barrier function of the epidermis (By similarity). Down-regulates NQO1, leading to increased mitomycin c resistance.',NULL,NULL,NULL,NULL,NULL),(7358,'UniProt Function',NULL,8888,NULL,'Competitive inhibitor of E2F-mediated transactivation activity. Impairs E2F-mediated cell-cycle progression from G(1) to S phase.',NULL,NULL,NULL,NULL,NULL),(7359,'UniProt Function',NULL,8889,NULL,'Transcriptional regulator. Involved in the initiation of neuronal differentiation. Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation. Dimers bind DNA on E-box motifs: 5\'-CANNTG-3\'. Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer. Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region.',NULL,NULL,NULL,NULL,NULL),(7360,'UniProt Function',NULL,8890,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.',NULL,NULL,NULL,NULL,NULL),(7361,'UniProt Function',NULL,8891,NULL,'Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity).',NULL,NULL,NULL,NULL,NULL),(7362,'UniProt Function',NULL,8894,NULL,'May act as a GTPase-activating protein (GAP) for Rab family protein(s). May act as a GAP for RAB7A. Can displace RAB7A and retromer CSC subcomplex from the endosomal membrane to the cytosol; at least retromer displacement seems to require its catalytic activity (PubMed:19531583, PubMed:20923837). Required for retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN); the function seems to require its catalytic activity. Involved in regulation of autophagy (PubMed:22354992). May act as a molecular switch between endosomal and autophagosomal transport and is involved in reprogramming vesicle trafficking upon autophagy induction. Involved in the trafficking of ATG9A upon activation of autophagy. May regulate the recruitment of ATG9A-AP2-containing vesicles to autophagic membranes (PubMed:24603492).',NULL,NULL,NULL,NULL,NULL),(7363,'UniProt Function',NULL,8895,NULL,'Putative transcription factor.',NULL,NULL,NULL,NULL,NULL),(7364,'UniProt Function',NULL,8897,NULL,'Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis.',NULL,NULL,NULL,NULL,NULL),(7365,'UniProt Function',NULL,8898,NULL,'Increases DNTT terminal deoxynucleotidyltransferase activity (in vitro) (PubMed:11473582). Also acts as a transcriptional regulator, binding to the consensus sequence 5\'-GNTGCATG-3\' following an AT-tract. Associates with RAB20 promoter and positively regulates its transcription. Binds DNA and nucleosomes; may recruit HDAC1 complexes to nucleosomes or naked DNA.',NULL,NULL,NULL,NULL,NULL),(7366,'UniProt Function',NULL,8899,NULL,'Transcription factor that binds to and transactivates the TSHB promoter. Binds to a minimal DNA-binding sequence 5\'-[TC][AG][AG]TTA[TC][AG]-3\'.',NULL,NULL,NULL,NULL,NULL),(7367,'UniProt Function',NULL,8900,NULL,'Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and RAB23 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7368,'UniProt Function',NULL,8903,NULL,'Transcription factor that specifically recognizes and binds E-box sequences (5\'-CANNTG-3\'). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF. In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer. It also binds very well to a USF/MLTF site.',NULL,NULL,NULL,NULL,NULL),(7369,'UniProt Function',NULL,8904,NULL,'Inhibits gastrointestinal motility and gastric acid secretion. Could function as a structural component of gastric mucus, possibly by stabilizing glycoproteins in the mucus gel through interactions with carbohydrate side chains (By similarity).',NULL,NULL,NULL,NULL,NULL),(7370,'UniProt Function',NULL,8905,NULL,'Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters.',NULL,NULL,NULL,NULL,NULL),(7371,'UniProt Function',NULL,8906,NULL,'Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It may participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells that do not secrete COL7A1. It is also specifically required for the secretion of lipoproteins by participating in their export from the endoplasmic reticulum (PubMed:27138255, PubMed:19269366). Required for correct assembly of COPII coat components at endoplasmic reticulum exit sites (ERES) and for the localization of SEC16A and membrane-bound ER-resident complexes consisting of CTAGE5 and PREB/SEC12 to ERES (PubMed:28442536).',NULL,NULL,NULL,NULL,NULL),(7372,'UniProt Function',NULL,8907,NULL,'Catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine) (PubMed:11255023, PubMed:20354154). Catalysis occurs through a double-displacement mechanism. The nucleophile active site attacks the C1\' of nucleotide 34 to detach the guanine base from the RNA, forming a covalent enzyme-RNA intermediate. The proton acceptor active site deprotonates the incoming queuine, allowing a nucleophilic attack on the C1\' of the ribose to form the product (By similarity).',NULL,NULL,NULL,NULL,NULL),(7373,'UniProt Function',NULL,8908,NULL,'Active transposase that specifically recognizes the bipartite 5\'-TXXGGGX(A/T)-3\' consensus motif and mediates transposition.',NULL,NULL,NULL,NULL,NULL),(7374,'UniProt Function',NULL,8909,NULL,'Has acyl-CoA thioesterase activity towards medium and long-chain (C14 to C18) fatty acyl-CoA substrates, and probably plays an role in mitochondrial fatty acid metabolism. Plays a role in the apoptotic process, possibly via its regulation of AKT1 activity. According to PubMed:11598301, inhibits AKT1 phosphorylation and activity. According to PubMed:17615157, enhances AKT1 activity by favoring its phosphorylation and translocation to plasma membrane.',NULL,NULL,NULL,NULL,NULL),(7375,'UniProt Function',NULL,8910,NULL,'E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth.',NULL,NULL,NULL,NULL,NULL),(7376,'UniProt Function',NULL,8911,NULL,'Transaldolase is important for the balance of metabolites in the pentose-phosphate pathway.',NULL,NULL,NULL,NULL,NULL),(7377,'UniProt Function',NULL,8912,NULL,'Serine/threonine-protein kinase involved in different processes such as membrane blebbing and apoptotic bodies formation DNA damage response and MAPK14/p38 MAPK stress-activated MAPK cascade. Phosphorylates itself, MBP, activated MAPK8, MAP2K3, MAP2K6 and tubulins. Activates the MAPK14/p38 MAPK signaling pathway through the specific activation and phosphorylation of the upstream MAP2K3 and MAP2K6 kinases. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Isoform 1, but not isoform 2, plays a role in apoptotic morphological changes, including cell contraction, membrane blebbing and apoptotic bodies formation. This function, which requires the activation of MAPK8/JNK and nuclear localization of C-terminally truncated isoform 1, may be linked to the mitochondrial CASP9-associated death pathway. Isoform 1 binds to microtubules and affects their organization and stability independently of its kinase activity. Prevents MAP3K7-mediated activation of CHUK, and thus NF-kappa-B activation, but not that of MAPK8/JNK. May play a role in the osmotic stress-MAPK8 pathway. Isoform 2, but not isoform 1, is required for PCDH8 endocytosis. Following homophilic interactions between PCDH8 extracellular domains, isoform 2 phosphorylates and activates MAPK14/p38 MAPK which in turn phosphorylates isoform 2. This process leads to PCDH8 endocytosis and CDH2 cointernalization. Both isoforms are involved in MAPK14 phosphorylation.',NULL,NULL,NULL,NULL,NULL),(7378,'UniProt Function',NULL,8913,NULL,'May regulate actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F-actin. The localized formation of TARA and TRIO complexes coordinates the amount of F-actin present in stress fibers. May also serve as a linker protein to recruit proteins required for F-actin formation and turnover.',NULL,NULL,NULL,NULL,NULL),(7379,'UniProt Function',NULL,8914,NULL,'Serine/threonine-protein kinase that acts as a regulator of the p38/MAPK14 stress-activated MAPK cascade and of the MAPK8/JNK cascade. Acts as an activator of the p38/MAPK14 stress-activated MAPK cascade. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Inhibits basal activity of MAPK8/JNK cascade and diminishes its activation in response epidermal growth factor (EGF).',NULL,NULL,NULL,NULL,NULL),(7380,'UniProt Function',NULL,8915,NULL,'Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by human Epstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum and subsequent peptide loading by MHC class I molecules.',NULL,NULL,NULL,NULL,NULL),(7381,'UniProt Function',NULL,8916,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.',NULL,NULL,NULL,NULL,NULL),(7382,'UniProt Function',NULL,8917,NULL,'Putative Rab GTPase-activating protein which plays a role in vesicular trafficking (PubMed:28823707). Involved in endosome-to-Golgi trafficking. Acts as a bridging protein by binding simultaneously to golgins, including GOLGA1 and GOLGA4, located at the trans-Golgi, and to the WASH complex, located on endosome-derived vesicles (PubMed:29084197, PubMed:29426865). Together with WDR11 complex facilitates the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). Plays a role in brain development, including in cortical neuron positioning (By similarity). May also be important for neurite outgrowth, possibly through its involvement in membrane trafficking and cargo delivery, 2 processes that are essential for axonal and dendritic growth (By similarity). May act as a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin/CLEC7A-signaling pathways. Does not alter initial activation events, but instead affects maintenance of inflammatory gene expression several hours after bacterial lipopolysaccharide (LPS) challenge (By similarity).',NULL,NULL,NULL,NULL,NULL),(7383,'UniProt Function',NULL,8918,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.',NULL,NULL,NULL,NULL,NULL),(7384,'UniProt Function',NULL,8919,NULL,'Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question.',NULL,NULL,NULL,NULL,NULL),(7385,'UniProt Function',NULL,8920,NULL,'Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7386,'UniProt Function',NULL,8921,NULL,'May act as a GTPase-activating protein for Rab family protein(s).',NULL,NULL,NULL,NULL,NULL),(7387,'UniProt Function',NULL,8922,NULL,'Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable).',NULL,NULL,NULL,NULL,NULL),(7388,'UniProt Function',NULL,8923,NULL,'D region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7389,'UniProt Function',NULL,8924,NULL,'Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3\'-terminus.',NULL,NULL,NULL,NULL,NULL),(7390,'UniProt Function',NULL,8925,NULL,'DNA glycosylase that plays a key role in active DNA demethylation: specifically recognizes and binds 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC) in the context of CpG sites and mediates their excision through base-excision repair (BER) to install an unmethylated cytosine. Cannot remove 5-hydroxymethylcytosine (5hmC). According to an alternative model, involved in DNA demethylation by mediating DNA glycolase activity toward 5-hydroxymethyluracil (5hmU) produced by deamination of 5hmC. Also involved in DNA repair by acting as a thymine-DNA glycosylase that mediates correction of G/T mispairs to G/C pairs: in the DNA of higher eukaryotes, hydrolytic deamination of 5-methylcytosine to thymine leads to the formation of G/T mismatches. Its role in the repair of canonical base damage is however minor compared to its role in DNA demethylation. It is capable of hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of the DNA and a mispaired thymine. In addition to the G/T, it can remove thymine also from C/T and T/T mispairs in the order G/T >> C/T > T/T. It has no detectable activity on apyrimidinic sites and does not catalyze the removal of thymine from A/T pairs or from single-stranded DNA. It can also remove uracil and 5-bromouracil from mispairs with guanine.',NULL,NULL,NULL,NULL,NULL),(7391,'UniProt Function',NULL,8926,NULL,'May regulate T-cell apoptosis.',NULL,NULL,NULL,NULL,NULL),(7392,'UniProt Function',NULL,8928,NULL,'Plays a role in the negative regulation of NF-kappa-B signaling at the basal level by modulating transcriptional activity of NF-kappa-B on its target gene promoters. Associates with cyclin D1 promoter containing Myc E-box sequence and transcriptionally represses cyclin D1 expression. Regulates telomerase reverse transcriptase expression and telomerase activity in both ALT (alternative lengthening of telomeres)and telomerase-positive cell lines.',NULL,NULL,NULL,NULL,NULL),(7393,'UniProt Function',NULL,8929,NULL,'May be a structural component of the sperm flagellum. Contributes to normal sperm motility.',NULL,NULL,NULL,NULL,NULL),(7394,'UniProt Function',NULL,8930,NULL,'Extracellular matrix protein that seems to be a ligand for ITGA8:ITGB1, ITGAV:ITGB1 and ITGA4:ITGB1 (By similarity) (PubMed:17909022). Involved in neurite outgrowth and cell migration in hippocampal explants (By similarity). During endochondral bone formation, inhibits proliferation and differentiation of proteoblasts mediated by canonical WNT signaling (By similarity). In tumors, stimulates angiogenesis by elongation, migration and sprouting of endothelial cells (PubMed:19884327). Expressed in most mammary tumors, may facilitate tumorigenesis by supporting the migratory behavior of breast cancer cells (PubMed:17909022).',NULL,NULL,NULL,NULL,NULL),(7395,'UniProt Function',NULL,8931,NULL,'General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA. Isoform 2 is required for transcription of the U6 promoter.',NULL,NULL,NULL,NULL,NULL),(7396,'UniProt Function',NULL,8932,NULL,'Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. For instance, TGFBR1 induces TRAF6 autoubiquitination which in turn results in MAP3K7 ubiquitination and activation to trigger apoptosis. Also regulates epithelial to mesenchymal transition through a SMAD-independent signaling pathway through PARD6A phosphorylation and activation.',NULL,NULL,NULL,NULL,NULL),(7397,'UniProt Function',NULL,8933,NULL,'Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFRB1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways.',NULL,NULL,NULL,NULL,NULL),(7398,'UniProt Function',NULL,8934,NULL,'Implicated in the genesis of hemopoietic malignancies. It may play an important role in hemopoietic differentiation. Serves as a positive regulator of erythroid differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(7399,'UniProt Function',NULL,8935,NULL,'Putative deoxyribonuclease.',NULL,NULL,NULL,NULL,NULL),(7400,'UniProt Function',NULL,8936,NULL,'Acts as GTPase-activating protein for RAB3A, RAB22A, RAB27A, AND RAB35. Does not act on RAB2A and RAB6A.',NULL,NULL,NULL,NULL,NULL),(7401,'UniProt Function',NULL,8937,NULL,'Acts as a GTPase-activating protein specific for RAB33B. Involved in the regulation of autophagosome maturation, the process in which autophagosomes fuse with endosomes and lysosomes.',NULL,NULL,NULL,NULL,NULL),(7402,'UniProt Function',NULL,8938,NULL,'May act as a GTPase-activating protein for Rab family protein(s).',NULL,NULL,NULL,NULL,NULL),(7403,'UniProt Function',NULL,8939,NULL,'Acts as a positive regulator of hedgehog signaling and regulates ciliary function.',NULL,NULL,NULL,NULL,NULL),(7404,'UniProt Function',NULL,8940,NULL,'GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro.',NULL,NULL,NULL,NULL,NULL),(7405,'UniProt Function',NULL,8941,NULL,'This is a receptor for VIP. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. The affinity is VIP = PACAP-27 > PACAP-38.',NULL,NULL,NULL,NULL,NULL),(7406,'UniProt Function',NULL,8942,NULL,'VIP causes vasodilation, lowers arterial blood pressure, stimulates myocardial contractility, increases glycogenolysis and relaxes the smooth muscle of trachea, stomach and gall bladder.',NULL,NULL,NULL,NULL,NULL),(7407,'UniProt Function',NULL,8942,NULL,'PHM and PHV also cause vasodilation. PHM-27 is a potent agonist of the calcitonin receptor CALCR, with similar efficacy as calcitonin.',NULL,NULL,NULL,NULL,NULL),(7408,'UniProt Function',NULL,8943,NULL,'May act as a GTPase-activating protein for Rab family protein(s).',NULL,NULL,NULL,NULL,NULL),(7409,'UniProt Function',NULL,8944,NULL,'Tubulin-folding protein; involved in the early step of the tubulin folding pathway.',NULL,NULL,NULL,NULL,NULL),(7410,'UniProt Function',NULL,8945,NULL,'Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable).',NULL,NULL,NULL,NULL,NULL),(7411,'UniProt Function',NULL,8947,NULL,'Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3\'-terminus.',NULL,NULL,NULL,NULL,NULL),(7412,'UniProt Function',NULL,8948,NULL,'GPI-anchored cell membrane protein involved in Nodal signaling. Cell-associated TDGF1 acts as a Nodal coreceptor in cis. Shedding of TDGF1 by TMEM8A modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells (PubMed:27881714). Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm (PubMed:11909953).',NULL,NULL,NULL,NULL,NULL),(7413,'UniProt Function',NULL,8949,NULL,'Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm. Activates the Nodal-dependent signaling pathway.',NULL,NULL,NULL,NULL,NULL),(7414,'UniProt Function',NULL,8950,NULL,'May be involved in transcriptional regulation. Modulates various viral and cellular promoters in a promoter context-dependent manner. For example, transcription from the FOS promoter is increased, while Rous sarcoma virus (RSV) long terminal repeat (LTR) promoter activity is repressed. Does not bind DNA directly.',NULL,NULL,NULL,NULL,NULL),(7415,'UniProt Function',NULL,8951,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(7416,'UniProt Function',NULL,8952,NULL,'Regulates the transcriptional activity of DNTT and ESR1. May function as a chromatin remodeling protein.',NULL,NULL,NULL,NULL,NULL),(7417,'UniProt Function',NULL,8954,NULL,'Involved in neural development by regulating the establishment of proper connectivity within the nervous system. Acts in both pre- and postsynaptic neurons in the hippocampus to control the assembly of a precise topographic projection: required in both CA1 and subicular neurons for the precise targeting of proximal CA1 axons to distal subiculum, probably by promoting homophilic cell adhesion. Required for proper dendrite morphogenesis and axon targeting in the vertebrate visual system, thereby playing a key role in the development of the visual pathway. Regulates the formation in ipsilateral retinal mapping to both the dorsal lateral geniculate nucleus (dLGN) and the superior colliculus (SC). May also be involved in the differentiation of the fibroblast-like cells in the superficial layer of mandibular condylar cartilage into chondrocytes.',NULL,NULL,NULL,NULL,NULL),(7418,'UniProt Function',NULL,8955,NULL,'May be involved in cell migration, cartilage development and in linking signal transduction pathways to the cytoskeleton (By similarity). May promote apoptosis, via its cleavage by caspase-3.',NULL,NULL,NULL,NULL,NULL),(7419,'UniProt Function',NULL,8956,NULL,'Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Plays a role in the establishment of the anterior-posterior axis during gastrulation. Regulates the differentiation and cellular process formation of oligodendrocytes and myelination of small-diameter axons in the central nervous system (CNS) (PubMed:26188006). Promotes activation of focal adhesion kinase. May function as a cellular signal transducer (By similarity).',NULL,NULL,NULL,NULL,NULL),(7420,'UniProt Function',NULL,8957,NULL,'Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway.',NULL,NULL,NULL,NULL,NULL),(7421,'UniProt Function',NULL,8959,NULL,'May have a transcription role in testis. May act as a competitor/regulator of TGIF2LX.',NULL,NULL,NULL,NULL,NULL),(7422,'UniProt Function',NULL,8960,NULL,'Stabilizer of the mucous gel overlying the gastrointestinal mucosa that provides a physical barrier against various noxious agents. May inhibit the growth of calcium oxalate crystals in urine.',NULL,NULL,NULL,NULL,NULL),(7423,'UniProt Function',NULL,8961,NULL,'DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5\'-[AT]NTNN[GT]GGCA[AGT]-3\' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(7424,'UniProt Function',NULL,8962,NULL,'Has sequence-specific DNA-binding activity and can function as transcriptional repressor (in vitro) (PubMed:21110952). May be a regulator of cell cycle: THAP5 overexpression in human cell lines causes cell cycle arrest at G2/M phase (PubMed:19502560).',NULL,NULL,NULL,NULL,NULL),(7425,'UniProt Function',NULL,8964,NULL,'Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation (PubMed:24421332). Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity).',NULL,NULL,NULL,NULL,NULL),(7426,'UniProt Function',NULL,8966,NULL,'May play a role in uric acid excretion.',NULL,NULL,NULL,NULL,NULL),(7427,'UniProt Function',NULL,8967,NULL,'Regulates insulin-mediated adipose tissue glucose uptake and transport by modulation of SLC2A4 recycling. Not required for SLC2A4 membrane fusion upon an initial stimulus, but rather is necessary for proper protein recycling during prolonged insulin stimulation.',NULL,NULL,NULL,NULL,NULL),(7428,'UniProt Function',NULL,8968,NULL,'Component of the transcription complexes of the pulmonary surfactant-associated protein-B (SFTPB) and -C (SFTPC). Enhances homeobox protein Nkx-2.1-activated SFTPB and SFTPC promoter activities.',NULL,NULL,NULL,NULL,NULL),(7429,'UniProt Function',NULL,8969,NULL,'Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association.',NULL,NULL,NULL,NULL,NULL),(7430,'UniProt Function',NULL,8970,NULL,'Putative deoxyribonuclease.',NULL,NULL,NULL,NULL,NULL),(7431,'UniProt Function',NULL,8971,NULL,'Acts as GTPase-activating protein for RAB7A. Signal effector acting as a linker between RAC1 and RAB7A, leading to RAB7A inactivation and subsequent inhibition of cadherin degradation and reduced cell-cell adhesion.',NULL,NULL,NULL,NULL,NULL),(7432,'UniProt Function',NULL,8972,NULL,'Tubulin-folding protein; involved in the final step of the tubulin folding pathway.',NULL,NULL,NULL,NULL,NULL),(7433,'UniProt Function',NULL,8973,NULL,'Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7434,'UniProt Function',NULL,8974,NULL,'Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7435,'UniProt Function',NULL,8976,NULL,'Scaffold protein that may play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Plays a role in the regulation of cell proliferation. May act as a tumor suppressor. Inhibits tumor cell growth.',NULL,NULL,NULL,NULL,NULL),(7436,'UniProt Function',NULL,8977,NULL,'Transforming growth factor beta-2 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively.',NULL,NULL,NULL,NULL,NULL),(7437,'UniProt Function',NULL,8977,NULL,'Latency-associated peptide: Required to maintain the Transforming growth factor beta-2 (TGF-beta-2) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-2 and regulates its activation via interaction with \'milieu molecules\', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7438,'UniProt Function',NULL,8977,NULL,'Transforming growth factor beta-2: Multifunctional protein that regulates various processes such as angiogenesis and heart development (PubMed:22772371, PubMed:22772368). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains remain non-covalently linked rendering TGF-beta-2 inactive during storage in extracellular matrix (By similarity). At the same time, LAP chain interacts with \'milieu molecules\', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-2 and maintain it in a latent state during storage in extracellular milieus (By similarity). Once activated following release of LAP, TGF-beta-2 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity).',NULL,NULL,NULL,NULL,NULL),(7439,'UniProt Function',NULL,8978,NULL,'Involved in the maintenance and repair of the intestinal mucosa. Promotes the mobility of epithelial cells in healing processes (motogen).',NULL,NULL,NULL,NULL,NULL),(7440,'UniProt Function',NULL,8979,NULL,'Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold (By similarity). In hair follicles, involved in cross-linking structural proteins to hardening the inner root sheath.',NULL,NULL,NULL,NULL,NULL),(7441,'UniProt Function',NULL,8980,NULL,'Essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA, tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin. Has histone acetyltransferase activity (HAT) with unique specificity for free and nucleosomal H3. May cooperate with GTF3C5 in facilitating the recruitment of TFIIIB and RNA polymerase through direct interactions with BRF1, POLR3C and POLR3F. May be localized close to the A box.',NULL,NULL,NULL,NULL,NULL),(7442,'UniProt Function',NULL,8981,NULL,'Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters.',NULL,NULL,NULL,NULL,NULL),(7443,'UniProt Function',NULL,8982,NULL,'Required for normal structure and function of primary cilia. Plays a role in the organization of axoneme microtubule bundles in primary cilia (By similarity). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7444,'UniProt Function',NULL,8984,NULL,'Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site. Positively regulates T and B cell proliferation through iron uptake (PubMed:26642240).',NULL,NULL,NULL,NULL,NULL),(7445,'UniProt Function',NULL,8984,NULL,'(Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus.',NULL,NULL,NULL,NULL,NULL),(7446,'UniProt Function',NULL,8987,NULL,'Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Possesses a dithiol-reducing activity.',NULL,NULL,NULL,NULL,NULL),(7447,'UniProt Function',NULL,8989,NULL,'May participate in the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. the PAM complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(7448,'UniProt Function',NULL,8990,NULL,'Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.',NULL,NULL,NULL,NULL,NULL),(7449,'UniProt Function',NULL,8992,NULL,'May play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility.',NULL,NULL,NULL,NULL,NULL),(7450,'UniProt Function',NULL,8993,NULL,'Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space.',NULL,NULL,NULL,NULL,NULL),(7451,'UniProt Function',NULL,8994,NULL,'Calcium channel facilitator that increases calcium flux by generating a larger window current and slowing inactivation of the L-type CACNA1C/CaV1.2 channel. Regulation of intracellular calcium by Calfacilitin is required for neural plate formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(7452,'UniProt Function',NULL,8995,NULL,'Key regulator of TP53BP1 required to stabilize TP53BP1 and regulate its recruitment to chromatin (PubMed:28241136). In absence of DNA damage, interacts with the tandem Tudor-like domain of TP53BP1, masking the region that binds histone H4 dimethylated at \'Lys-20\' (H4K20me2), thereby preventing TP53BP1 recruitment to chromatin and maintaining TP53BP1 localization to the nucleus (PubMed:28241136). Following DNA damage, ATM-induced phosphorylation of TP53BP1 and subsequent recruitment of RIF1 leads to dissociate NUDT16L1/TIRR from TP53BP1, unmasking the tandem Tudor-like domain and allowing recruitment of TP53BP1 to DNA double strand breaks (DSBs) (PubMed:28241136). Binds U8 snoRNA (PubMed:18820299).',NULL,NULL,NULL,NULL,NULL),(7453,'UniProt Function',NULL,8996,NULL,'Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26518474).',NULL,NULL,NULL,NULL,NULL),(7454,'UniProt Function',NULL,8997,NULL,'May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis. Therefore, it may play an indirect role in protein glycosylation.',NULL,NULL,NULL,NULL,NULL),(7455,'UniProt Function',NULL,9000,NULL,'S-adenosyl-L-methionine-dependent guanine N(1)-methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs (PubMed:23042678, PubMed:25053765). Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs (PubMed:23042678).',NULL,NULL,NULL,NULL,NULL),(7456,'UniProt Function',NULL,9002,NULL,'Inhibits apoptosis via negative regulation of the mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway.',NULL,NULL,NULL,NULL,NULL),(7457,'UniProt Function',NULL,9003,NULL,'Primate-specific protein involved in cortical expansion and folding in the developing neocortex. May drive neural progenitor proliferation through nuclear translocation of IQGAP1, which in turn promotes G1/S cell cycle transitions.',NULL,NULL,NULL,NULL,NULL),(7458,'UniProt Function',NULL,9005,NULL,'Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833330).',NULL,NULL,NULL,NULL,NULL),(7459,'UniProt Function',NULL,9006,NULL,'Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).',NULL,NULL,NULL,NULL,NULL),(7460,'UniProt Function',NULL,9007,NULL,'Receptor for TNFSF13B/BLyS/BAFF and TNFSF13/APRIL. Promotes B-cell survival and plays a role in the regulation of humoral immunity. Activates NF-kappa-B and JNK.',NULL,NULL,NULL,NULL,NULL),(7461,'UniProt Function',NULL,9008,NULL,'Can mediate activation of JNK and NF-kappa-B. May promote caspase-independent cell death.',NULL,NULL,NULL,NULL,NULL),(7462,'UniProt Function',NULL,9009,NULL,'Component of the signaling pathway of IL-1 and Toll-like receptors. Inhibits cell activation by microbial products. Recruits IRAK1 to the IL-1 receptor complex. Inhibits IRAK1 phosphorylation and kinase activity (PubMed:11751856). Connects the ubiquitin pathway to autophagy by functioning as a ubiquitin-ATG8 family adapter and thus mediating autophagic clearance of ubiquitin conjugates. The TOLLIP-dependent selective autophagy pathway plays an important role in clearance of cytotoxic polyQ proteins aggregates (PubMed:25042851).',NULL,NULL,NULL,NULL,NULL),(7463,'UniProt Function',NULL,9010,NULL,'Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.',NULL,NULL,NULL,NULL,NULL),(7464,'UniProt Function',NULL,9011,NULL,'Required for endoplasmic reticulum integrity. Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope as well as induces TOR1A, TOR1B and TOR3A ATPase activity.',NULL,NULL,NULL,NULL,NULL),(7465,'UniProt Function',NULL,9012,NULL,'Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.',NULL,NULL,NULL,NULL,NULL),(7466,'UniProt Function',NULL,9014,NULL,'Receptor for thrombopoietin that acts as a primary regulator of megakaryopoiesis and platelet production. May represent a regulatory molecule specific for TPO-R-dependent immune responses.',NULL,NULL,NULL,NULL,NULL),(7467,'UniProt Function',NULL,9015,NULL,'Transcriptional repressor, which probably repress transcription by binding directly the 5\'-CTGTCAA-3\' DNA sequence or by interacting with TGF-beta activated SMAD proteins. Probably represses transcription via the recruitment of histone deacetylase proteins.',NULL,NULL,NULL,NULL,NULL),(7468,'UniProt Function',NULL,9016,NULL,'Participates in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyzes dithiol-disulfide exchange reactions. Plays a role in the reversible S-nitrosylation of cysteine residues in target proteins, and thereby contributes to the response to intracellular nitric oxide. Nitrosylates the active site Cys of CASP3 in response to nitric oxide (NO), and thereby inhibits caspase-3 activity. Induces the FOS/JUN AP-1 DNA-binding activity in ionizing radiation (IR) cells through its oxidation/reduction status and stimulates AP-1 transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(7469,'UniProt Function',NULL,9016,NULL,'ADF augments the expression of the interleukin-2 receptor TAC (IL2R/P55).',NULL,NULL,NULL,NULL,NULL),(7470,'UniProt Function',NULL,9017,NULL,'Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC.',NULL,NULL,NULL,NULL,NULL),(7471,'UniProt Function',NULL,9018,NULL,'Transfer of a sulfur ion to cyanide or to other thiol compounds. Also has weak rhodanese activity. Detoxifies cyanide and is required for thiosulfate biosynthesis. Acts as an antioxidant. In combination with cysteine aminotransferase (CAT), contributes to the catabolism of cysteine and is an important producer of hydrogen sulfide in the brain, retina and vascular endothelial cells. Hydrogen sulfide H(2)S is an important synaptic modulator, signaling molecule, smooth muscle contractor and neuroprotectant. Its production by the 3MST/CAT pathway is regulated by calcium ions.',NULL,NULL,NULL,NULL,NULL),(7472,'UniProt Function',NULL,9019,NULL,'Transcriptional coactivator that interacts with numerous nuclear receptors and coactivators and modulates the transcription of target genes. Interacts with chromatin depending on histone H3 modifications, having the highest affinity for histone H3 that is both unmodified at \'Lys-4\' (H3K4me0) and acetylated at \'Lys-23\' (H3K23ac). Has E3 protein-ubiquitin ligase activity. Promotes ubiquitination and proteasomal degradation of p53/TP53. Plays a role in the regulation of cell proliferation and apoptosis, at least in part via its effects on p53/TP53 levels. Up-regulates ligand-dependent transcription activation by AR, GCR/NR3C1, thyroid hormone receptor (TR) and ESR1. Modulates transcription activation by retinoic acid (RA) receptors, including RARA. Plays a role in regulating retinoic acid-dependent proliferation of hepatocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(7473,'UniProt Function',NULL,9021,NULL,'Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.',NULL,NULL,NULL,NULL,NULL),(7474,'UniProt Function',NULL,9022,NULL,'Plays a role as a potent and selective agonist of PTH2R resulting in adenyl cyclase activation and intracellular calcium levels elevation. Induces protein kinase C beta activation, recruitment of beta-arrestin and PTH2R internalization. May inhibit cell proliferation via its action on PTH2R activation. Neuropeptide which may also have a role in spermatogenesis. May activate nociceptors and nociceptive circuits.',NULL,NULL,NULL,NULL,NULL),(7475,'UniProt Function',NULL,9023,NULL,'Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15.',NULL,NULL,NULL,NULL,NULL),(7476,'UniProt Function',NULL,9025,NULL,'Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor-dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10. Involved in the regulation of nociception, acting as a modulator of the interaction between TRPA1 and TRPV1, two molecular sensors and mediators of pain signals in dorsal root ganglia (DRG) neurons. Mechanistically, it weakens their interaction, thereby releasing the inhibition of TRPA1 by TRPV1 and increasing the single-channel open probability of the TRPA1-TRPV1 complex.',NULL,NULL,NULL,NULL,NULL),(7477,'UniProt Function',NULL,9026,NULL,'Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR3 is a nucleotide-sensing TLR which is activated by double-stranded RNA, a sign of viral infection. Acts via the adapter TRIF/TICAM1, leading to NF-kappa-B activation, IRF3 nuclear translocation, cytokine secretion and the inflammatory response.',NULL,NULL,NULL,NULL,NULL),(7478,'UniProt Function',NULL,9027,NULL,'May be involved in cellular trafficking of proteins such as SLC4A1.',NULL,NULL,NULL,NULL,NULL),(7479,'UniProt Function',NULL,9028,NULL,'Plays a role in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation and is required for the stabilization of COX20 and the newly synthesized MT-CO2/COX2 protein.',NULL,NULL,NULL,NULL,NULL),(7480,'UniProt Function',NULL,9029,NULL,'Cooperates with LY96 and CD14 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) (PubMed:27022195). Acts via MYD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:9237759, PubMed:10835634, PubMed:27022195). Also involved in LPS-independent inflammatory responses triggered by free fatty acids, such as palmitate, and Ni(2+). Responses triggered by Ni(2+) require non-conserved histidines and are, therefore, species-specific (PubMed:20711192). Both M.tuberculosis HSP70 (dnaK) and HSP65 (groEL-2) act via this protein to stimulate NF-kappa-B expression (PubMed:15809303). In complex with TLR6, promotes sterile inflammation in monocytes/macrophages in response to oxidized low-density lipoprotein (oxLDL) or amyloid-beta 42. In this context, the initial signal is provided by oxLDL- or amyloid-beta 42-binding to CD36. This event induces the formation of a heterodimer of TLR4 and TLR6, which is rapidly internalized and triggers inflammatory response, leading to the NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway, as well as IL1B secretion. Binds electronegative LDL (LDL(-)) and mediates the cytokine release induced by LDL(-) (PubMed:23880187). Stimulation of monocytes in vitro with M.tuberculosis PstS1 induces p38 MAPK and ERK1/2 activation primarily via TLR2, but also partially via this receptor (PubMed:16622205).',NULL,NULL,NULL,NULL,NULL),(7481,'UniProt Function',NULL,9030,NULL,'Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides (PubMed:21078852). Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.',NULL,NULL,NULL,NULL,NULL),(7482,'UniProt Function',NULL,9031,NULL,'Central receptor component of the translocase of the outer membrane of mitochondria (TOM complex) responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with the peripheral receptor TOM20 functions as the transit peptide receptor and facilitates the movement of preproteins into the translocation pore.',NULL,NULL,NULL,NULL,NULL),(7483,'UniProt Function',NULL,9032,NULL,'Regulates cell motility and proliferation. May have phosphatase activity. Reduces AKT1 phosphorylation. Lowers AKT1 kinase activity and interferes with AKT1 signaling.',NULL,NULL,NULL,NULL,NULL),(7484,'UniProt Function',NULL,9035,NULL,'Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity.',NULL,NULL,NULL,NULL,NULL),(7485,'UniProt Function',NULL,9036,NULL,'Phosphatidylserine receptor that enhances the engulfment of apoptotic cells. Involved in regulating T-cell proliferation and lymphotoxin signaling. Ligand for HAVCR1/TIMD1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7486,'UniProt Function',NULL,9039,NULL,'May play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. Plays a role in the proteolytic processing of ACE2. Proteolytically cleaves and activates the human coronavirus 229E (HCoV-229E) spike glycoprotein which facilitate virus-cell membrane fusions; spike proteins are synthesized and maintained in precursor intermediate folding states and proteolysis permits the refolding and energy release required to create stable virus-cell linkages and membrane coalescence. Preferentially cleaves the C-terminal side of arginine residues at the P1 position of certain peptides, cleaving Boc-Phe-Ser-Arg-4-methylcoumaryl-7-amide most efficiently and having an optimum pH of 8.6 with this substrate.',NULL,NULL,NULL,NULL,NULL),(7487,'UniProt Function',NULL,9040,NULL,'Serine protease which possesses both gelatinolytic and caseinolytic activities. Shows a preference for Arg in the P1 position.',NULL,NULL,NULL,NULL,NULL),(7488,'UniProt Function',NULL,9042,NULL,'Mediates action of cytolethal distending toxins (CDT), which are secreted by many pathogenic bacteria. Expression level of TMEM181 is rate-limiting for intoxication.',NULL,NULL,NULL,NULL,NULL),(7489,'UniProt Function',NULL,9044,NULL,'Required for assembly and stability of the TOM complex. Positive regulator of PRKN translocation to damaged mitochondria. Acts probably by stabilizing PINK1 on the outer membrane of depolarized mitochondria.',NULL,NULL,NULL,NULL,NULL),(7490,'UniProt Function',NULL,9045,NULL,'Receptor that accelerates the import of all mitochondrial precursor proteins.',NULL,NULL,NULL,NULL,NULL),(7491,'UniProt Function',NULL,9046,NULL,'Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6.',NULL,NULL,NULL,NULL,NULL),(7492,'UniProt Function',NULL,9047,NULL,'Receptor for TNFSF5/CD40LG. Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion.',NULL,NULL,NULL,NULL,NULL),(7493,'UniProt Function',NULL,9048,NULL,'Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3\'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5\'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus removing DNA supercoils. Finally, in the religation step, the DNA 5\'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells. Involved in the circadian transcription of the core circadian clock component ARNTL/BMAL1 by altering the chromatin structure around the ROR response elements (ROREs) on the ARNTL/BMAL1 promoter.',NULL,NULL,NULL,NULL,NULL),(7494,'UniProt Function',NULL,9049,NULL,'Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. May play a role in the development and maintenance of differentiating epithelial tissues. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis.',NULL,NULL,NULL,NULL,NULL),(7495,'UniProt Function',NULL,9050,NULL,'May play a role in vesicular transport from endoplasmic reticulum to Golgi.',NULL,NULL,NULL,NULL,NULL),(7496,'UniProt Function',NULL,9051,NULL,'May play a role in vesicular transport during the biogenesis of melanosomes.',NULL,NULL,NULL,NULL,NULL),(7497,'UniProt Function',NULL,9052,NULL,'Receptor-activated non-selective cation channel involved in detection of pain and possibly also in cold perception and inner ear function (PubMed:25389312, PubMed:25855297). Has a central role in the pain response to endogenous inflammatory mediators and to a diverse array of volatile irritants, such as mustard oil, cinnamaldehyde, garlic and acrolein, an irritant from tears gas and vehicule exhaust fumes (PubMed:25389312, PubMed:20547126). Is also activated by menthol (in vitro)(PubMed:25389312). Acts also as a ionotropic cannabinoid receptor by being activated by delta(9)-tetrahydrocannabinol (THC), the psychoactive component of marijuana (PubMed:25389312). May be a component for the mechanosensitive transduction channel of hair cells in inner ear, thereby participating in the perception of sounds. Probably operated by a phosphatidylinositol second messenger system (By similarity).',NULL,NULL,NULL,NULL,NULL),(7498,'UniProt Function',NULL,9053,NULL,'Plays an important role in the control of DNA replication and the maintenance of replication fork stability. Important for cell survival after DNA damage or replication stress. May be specifically required for the ATR-CHEK1 pathway in the replication checkpoint induced by hydroxyurea or ultraviolet light. Forms a complex with TIMELESS and this complex regulates DNA replication processes under both normal and stress conditions, stabilizes replication forks and influences both CHEK1 phosphorylation and the intra-S phase checkpoint in response to genotoxic stress.',NULL,NULL,NULL,NULL,NULL),(7499,'UniProt Function',NULL,9054,NULL,'Modulator of T-cell function. Has a protective effect in graft versus host disease model (By similarity).',NULL,NULL,NULL,NULL,NULL),(7500,'UniProt Function',NULL,9055,NULL,'May be a allosteric regulator of serine/threonine-protein phosphatase 2A (PP2A). Isoform 1 inhibits catalytic activity of the PP2A(D) core complex in vitro. The PP2A(C):TIPRL complex does not show phosphatase activity. Acts as negative regulator of serine/threonine-protein phosphatase 4 probably by inhibiting the formation of the active PPP4C:PPP4R2 complex; the function is proposed to implicate it in DNA damage response by promoting H2AFX phosphorylated on Ser-140 (gamma-H2AFX). May play a role in the regulation of ATM/ATR signaling pathway controlling DNA replication and repair.',NULL,NULL,NULL,NULL,NULL),(7501,'UniProt Function',NULL,9056,NULL,'Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S-phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly. Isoform 3 phosphorylates and enhances the stability of the t-SNARE SNAP23, augmenting its assembly with syntaxin. Isoform 3 protects the cells from the ionizing radiation by facilitating the repair of DSBs. In vitro, phosphorylates histone H3 at \'Ser-10\'.',NULL,NULL,NULL,NULL,NULL),(7502,'UniProt Function',NULL,9057,NULL,'Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles (By similarity). Is a critical central regulator of gonadal function.',NULL,NULL,NULL,NULL,NULL),(7503,'UniProt Function',NULL,9058,NULL,'Transcriptional corepressor that binds to a number of transcription factors. Inhibits NF-kappa-B-regulated gene expression. Inhibits the transcriptional activation mediated by FOXA2, and by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES. Unusual function as coactivator for ESRRG.',NULL,NULL,NULL,NULL,NULL),(7504,'UniProt Function',NULL,9059,NULL,'May activate NF-kappa-B signaling pathways.',NULL,NULL,NULL,NULL,NULL),(7505,'UniProt Function',NULL,9060,NULL,'Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES (By similarity).',NULL,NULL,NULL,NULL,NULL),(7506,'UniProt Function',NULL,9062,NULL,'Plays an important role in bone formation and normal bone mineralization. Promotes the differentiation of myoblasts into osteoblasts (PubMed:20025746). May induce the commitment and differentiation of myoblasts into osteoblasts through an enhancement of BMP2 production and interaction with the BMP-RUNX2 pathway. Upregulates the expression of ATF4, a transcription factor which plays a central role in osteoblast differentiation. Essential for normal spermatogenesis and late testicular differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(7507,'UniProt Function',NULL,9067,NULL,'E3 ubiquitin-protein ligase involved in ER-associated protein degradation, preferentially associates with the E2 enzyme UBE2J2. Exploited by viral US11 proteins to mediate HLA class I proteins degradation.',NULL,NULL,NULL,NULL,NULL),(7508,'UniProt Function',NULL,9068,NULL,'Participates in the innate immune response to microbial agents. Mediates detection of bacterial flagellins. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.',NULL,NULL,NULL,NULL,NULL),(7509,'UniProt Function',NULL,9069,NULL,'Probable adapter protein involved in signaling pathways. Interacts with the SH2 and SH3 domains of various signaling proteins when it is phosphorylated. May promote FYN activation, possibly by disrupting intramolecular SH3-dependent interactions (By similarity).',NULL,NULL,NULL,NULL,NULL),(7510,'UniProt Function',NULL,9071,NULL,'Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.',NULL,NULL,NULL,NULL,NULL),(7511,'UniProt Function',NULL,9072,NULL,'Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.',NULL,NULL,NULL,NULL,NULL),(7512,'UniProt Function',NULL,9073,NULL,'Isoform 3: Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with SPO11, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles.',NULL,NULL,NULL,NULL,NULL),(7513,'UniProt Function',NULL,9074,NULL,'Receptor for TNFSF9/4-1BBL. Possibly active during T cell activation.',NULL,NULL,NULL,NULL,NULL),(7514,'UniProt Function',NULL,9075,NULL,'Receptor with high affinity for TNFSF2/TNF-alpha and approximately 5-fold lower affinity for homotrimeric TNFSF1/lymphotoxin-alpha. The TRAF1/TRAF2 complex recruits the apoptotic suppressors BIRC2 and BIRC3 to TNFRSF1B/TNFR2. This receptor mediates most of the metabolic effects of TNF-alpha. Isoform 2 blocks TNF-alpha-induced apoptosis, which suggests that it regulates TNF-alpha function by antagonizing its biological activity.',NULL,NULL,NULL,NULL,NULL),(7515,'UniProt Function',NULL,9076,NULL,'Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina.',NULL,NULL,NULL,NULL,NULL),(7516,'UniProt Function',NULL,9077,NULL,'Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function (PubMed:18794526). Component of the cochlear hair cell\'s mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(7517,'UniProt Function',NULL,9078,NULL,'Receptor for TNFSF4/OX40L/GP34. Is a costimulatory molecule implicated in long-term T-cell immunity.',NULL,NULL,NULL,NULL,NULL),(7518,'UniProt Function',NULL,9078,NULL,'(Microbial infection) Acts as a receptor for human herpesvirus 6B/HHV-6B.',NULL,NULL,NULL,NULL,NULL),(7519,'UniProt Function',NULL,9079,NULL,'Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double-strand breaks. Essential during mitosis and meiosis for proper segregation of daughter chromosomes. May play a role in regulating the period length of ARNTL/BMAL1 transcriptional oscillation (By similarity).',NULL,NULL,NULL,NULL,NULL),(7520,'UniProt Function',NULL,9081,NULL,'Putative transcriptional activator involved in the hypothalamo-pituitary-gonadal system.',NULL,NULL,NULL,NULL,NULL),(7521,'UniProt Function',NULL,9082,NULL,'Acts as a negative regulator of mTOR activity.',NULL,NULL,NULL,NULL,NULL),(7522,'UniProt Function',NULL,9083,NULL,'Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal and endosomal membrane.',NULL,NULL,NULL,NULL,NULL),(7523,'UniProt Function',NULL,9085,NULL,'Receptor for the cytotoxic ligand TNFSF10/TRAIL (PubMed:10549288). The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B. Essential for ER stress-induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(7524,'UniProt Function',NULL,9086,NULL,'Acts as an activator of both rRNA/tRNA and protein methyltransferases (PubMed:25851604). Together with methyltransferase BUD23, methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). The heterodimer with HEMK2/N6AMT1 catalyzes N5-methylation of ETF1 on \'Gln-185\', using S-adenosyl L-methionine as methyl donor (PubMed:18539146). The heterodimer with ALKBH8 catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA species (PubMed:20308323). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production (PubMed:25851604).',NULL,NULL,NULL,NULL,NULL),(7525,'UniProt Function',NULL,9087,NULL,'Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5\' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi\'s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Regulates transcriptional elongation of a subset of genes. Involved in genome stability by preventing co-transcriptional R-loop formation.',NULL,NULL,NULL,NULL,NULL),(7526,'UniProt Function',NULL,9087,NULL,'Participates in an apoptotic pathway which is characterized by activation of caspase-6, increases in the expression of BAK1 and BCL2L1 and activation of NF-kappa-B. This pathway does not require p53/TP53, nor does the presence of p53/TP53 affect the efficiency of cell killing. Activates a G2/M cell cycle checkpoint prior to the onset of apoptosis. Apoptosis is inhibited by association with RB1.',NULL,NULL,NULL,NULL,NULL),(7527,'UniProt Function',NULL,9088,NULL,'Involved in the metabolism of neuropeptides under 20 amino acid residues long. Involved in cytoplasmic peptide degradation. Able to degrade the amyloid-beta precursor protein and generate amyloidogenic fragments.',NULL,NULL,NULL,NULL,NULL),(7528,'UniProt Function',NULL,9089,NULL,'Tyrosine-protein kinase that acts as cell-surface receptor for ANGPT1, ANGPT2 and ANGPT4 and regulates angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Has anti-inflammatory effects by preventing the leakage of proinflammatory plasma proteins and leukocytes from blood vessels. Required for normal angiogenesis and heart development during embryogenesis. Required for post-natal hematopoiesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell-cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascades. In migrating endothelial cells that lack cell-cell adhesions, ANGT1 recruits TEK to contacts with the extracellular matrix, leading to the formation of focal adhesion complexes, activation of PTK2/FAK and of the downstream kinases MAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation of sprouting angiogenesis. ANGPT1 signaling triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Signaling is modulated by ANGPT2 that has lower affinity for TEK, can promote TEK autophosphorylation in the absence of ANGPT1, but inhibits ANGPT1-mediated signaling by competing for the same binding site. Signaling is also modulated by formation of heterodimers with TIE1, and by proteolytic processing that gives rise to a soluble TEK extracellular domain. The soluble extracellular domain modulates signaling by functioning as decoy receptor for angiopoietins. TEK phosphorylates DOK2, GRB7, GRB14, PIK3R1; SHC1 and TIE1.',NULL,NULL,NULL,NULL,NULL),(7529,'UniProt Function',NULL,9091,NULL,'Plays a role in the regulation of lipogenesis, especially in lactating mammary gland. Important for the biosynthesis of triglycerides with medium-length fatty acid chains. May modulate lipogenesis by interacting with MID1IP1 and preventing its interaction with ACACA (By similarity). May function as transcriptional coactivator. May modulate the transcription factor activity of THRB.',NULL,NULL,NULL,NULL,NULL),(7530,'UniProt Function',NULL,9092,NULL,'Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Leu-Pro-Ala (PubMed:25609706, PubMed:28476889). Also shows low activity towards peptides with Ala or Ser at the P1 position (PubMed:28476889).',NULL,NULL,NULL,NULL,NULL),(7531,'UniProt Function',NULL,9092,NULL,'Isoform 1: Promotes TNFRSF1B-mediated phosphorylation of MAPK8/JNK1 and MAPK9/JNK2, suggesting a function as an adapter protein for TNFRSF1B; the effect is independent of XPNPEP3 peptidase activity. May inhibit apoptotic cell death induced via TNF-TNFRSF1B signaling.',NULL,NULL,NULL,NULL,NULL),(7532,'UniProt Function',NULL,9093,NULL,'Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 N-terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and form large disulfide-bond oligomers, leading to their inactivation. Able to cleave WNT3A, WNT5, but not WNT11. Required for head formation.',NULL,NULL,NULL,NULL,NULL),(7533,'UniProt Function',NULL,9094,NULL,'Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development.',NULL,NULL,NULL,NULL,NULL),(7534,'UniProt Function',NULL,9095,NULL,'Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles.',NULL,NULL,NULL,NULL,NULL),(7535,'UniProt Function',NULL,9098,NULL,'Probable serine protease which may play a role in cellular senescence. Overexpression inhibits cell growth and induce G1 cell cycle arrest.',NULL,NULL,NULL,NULL,NULL),(7536,'UniProt Function',NULL,9099,NULL,'Probable serine protease.',NULL,NULL,NULL,NULL,NULL),(7537,'UniProt Function',NULL,9100,NULL,'Involved in the regulation of cellular calcium homeotasis (PubMed:25996873). Required for spermatogenesis (PubMed:25996873).',NULL,NULL,NULL,NULL,NULL),(7538,'UniProt Function',NULL,9103,NULL,'Required for normal heme biosynthesis.',NULL,NULL,NULL,NULL,NULL),(7539,'UniProt Function',NULL,9108,NULL,'Export adapter involved in nuclear export of spliced and unspliced mRNA. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NFX1 pathway). Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5\' end of the mRNA where it functions in mRNA export to the cytoplasm. TREX recruitment occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1. The TREX complex is essential for the export of Kaposi\'s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production; ALYREF/THOC4 mediates the recruitment of the TREX complex to the intronless viral mRNA. Required for TREX complex assembly and for linking DDX39B to the cap-binding complex (CBC). In conjunction with THOC5 functions in NXF1-NXT1 mediated nuclear export of HSP70 mRNA; both proteins enhance the RNA binding activity of NXF1 and are required for NXF1 localization to the nuclear rim. Involved in the nuclear export of intronless mRNA; proposed to be recruited to intronless mRNA by ATP-bound DDX39B. Involved in transcription elongation and genome stability.',NULL,NULL,NULL,NULL,NULL),(7540,'UniProt Function',NULL,9108,NULL,'Acts as chaperone and promotes the dimerization of transcription factors containing basic leucine zipper (bZIP) domains and thereby promotes transcriptional activation.',NULL,NULL,NULL,NULL,NULL),(7541,'UniProt Function',NULL,9109,NULL,'May play a role in cell-cell or cell-ligand interactions during synaptogenesis and other events in the brain.',NULL,NULL,NULL,NULL,NULL),(7542,'UniProt Function',NULL,9110,NULL,'Adapter molecule that plays a key role in the activation of proinflammatory NF-kappa-B signaling following detection of bacterial pathogen-associated molecular pattern metabolites (PAMPs) (PubMed:12566447, PubMed:15492226, PubMed:26068852, PubMed:28877472, PubMed:28222186, PubMed:30111836). Promotes activation of an innate immune response by inducing the oligomerization and polyubiquitination of TRAF6, which leads to the activation of TAK1 and IKK through a proteasome-independent mechanism (PubMed:15492226, PubMed:26068852). TIFA-dependent innate immune response is triggered by ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria: ADP-Heptose is recognized by ALPK1, which phosphorylates TIFA at Thr-9, leading to TIFA homooligomerization and subsequent activation of proinflammatory NF-kappa-B signaling (PubMed:30111836).',NULL,NULL,NULL,NULL,NULL),(7543,'UniProt Function',NULL,9111,NULL,'Fructose-bisphosphatase hydrolyzing fructose-2,6-bisphosphate as well as fructose-1,6-bisphosphate (PubMed:19015259). Acts as a negative regulator of glycolysis by lowering intracellular levels of fructose-2,6-bisphosphate in a p53/TP53-dependent manner, resulting in the pentose phosphate pathway (PPP) activation and NADPH production (PubMed:16839880, PubMed:22887998). Contributes to the generation of reduced glutathione to cause a decrease in intracellular reactive oxygen species (ROS) content, correlating with its ability to protect cells from oxidative or metabolic stress-induced cell death (PubMed:16839880, PubMed:19713938, PubMed:23726973, PubMed:22887998, PubMed:23817040). Plays a role in promoting protection against cell death during hypoxia by decreasing mitochondria ROS levels in a HK2-dependent manner through a mechanism that is independent of its fructose-bisphosphatase activity (PubMed:23185017). In response to cardiac damage stress, mediates p53-induced inhibition of myocyte mitophagy through ROS levels reduction and the subsequent inactivation of BNIP3. Reduced mitophagy results in an enhanced apoptotic myocyte cell death, and exacerbates cardiac damage (By similarity). Plays a role in adult intestinal regeneration; contributes to the growth, proliferation and survival of intestinal crypts following tissue ablation (PubMed:23726973). Plays a neuroprotective role against ischemic brain damage by enhancing PPP flux and preserving mitochondria functions (By similarity). Protects glioma cells from hypoxia- and ROS-induced cell death by inhibiting glycolysis and activating mitochondrial energy metabolism and oxygen consumption in a TKTL1-dependent and p53/TP53-independent manner (PubMed:22887998). Plays a role in cancer cell survival by promoting DNA repair through activating PPP flux in a CDK5-ATM-dependent signaling pathway during hypoxia and/or genome stress-induced DNA damage responses (PubMed:25928429). Involved in intestinal tumor progression (PubMed:23726973).',NULL,NULL,NULL,NULL,NULL),(7544,'UniProt Function',NULL,9112,NULL,'Metalloproteinase inhibitor that functions by forming one to one complexes with target metalloproteinases, such as collagenases, and irreversibly inactivates them by binding to their catalytic zinc cofactor. Acts on MMP1, MMP2, MMP3, MMP7, MMP8, MMP9, MMP10, MMP11, MMP12, MMP13 and MMP16. Does not act on MMP14. Also functions as a growth factor that regulates cell differentiation, migration and cell death and activates cellular signaling cascades via CD63 and ITGB1. Plays a role in integrin signaling. Mediates erythropoiesis in vitro; but, unlike IL3, it is species-specific, stimulating the growth and differentiation of only human and murine erythroid progenitors.',NULL,NULL,NULL,NULL,NULL),(7545,'UniProt Function',NULL,9113,NULL,'Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway.',NULL,NULL,NULL,NULL,NULL),(7546,'UniProt Function',NULL,9114,NULL,'Involved in mitochondrial metabolism by regulating the balance between mitochondrial fusion and fission. May act as a regulator of mitochondrial fission that promotes DNM1L-dependent fission through activation of DNM1L. May be involved in peroxisome organization.',NULL,NULL,NULL,NULL,NULL),(7547,'UniProt Function',NULL,9116,NULL,'Transmembrane protein required for proper cognitive functions. Involved in the development of dentate gyrus (DG) neuron circuitry, is neccessary for AMPA receptors surface expression and proper excitatory postsynaptic currents of DG granule neurons. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Through the interaction with DST, mediates the docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport. In hippocampal neurons, required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 and recruits the WAVE1 complex to facilitate actin-dependent BDNF:NTRK2 early endocytic trafficking and mediate signaling from early endosomes.',NULL,NULL,NULL,NULL,NULL),(7548,'UniProt Function',NULL,9117,NULL,'May mediate cellular response to DNA damage by protecting against ultraviolet C-induced cell death (PubMed:23542032). Can form voltage-gated calcium and potassium channels in vitro (By similarity).',NULL,NULL,NULL,NULL,NULL),(7549,'UniProt Function',NULL,9121,NULL,'Receptor for TNFSF18. Seems to be involved in interactions between activated T-lymphocytes and endothelial cells and in the regulation of T-cell receptor-mediated cell death. Mediated NF-kappa-B activation via the TRAF2/NIK pathway.',NULL,NULL,NULL,NULL,NULL),(7550,'UniProt Function',NULL,9122,NULL,'Plays a role in the import of cytosolically synthesized preproteins into mitochondria. Binds the mature portion of precursor proteins. Interacts with cellular components, and possesses weak ATPase activity. May be a chaperone-like protein that helps to keep newly synthesized precursors in an unfolded import compatible state.',NULL,NULL,NULL,NULL,NULL),(7551,'UniProt Function',NULL,9123,NULL,'Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.',NULL,NULL,NULL,NULL,NULL),(7552,'UniProt Function',NULL,9125,NULL,'Probable transcriptional regulator involved in developmental processes.',NULL,NULL,NULL,NULL,NULL),(7553,'UniProt Function',NULL,9126,NULL,'May play a role in cell death control. Acts as a transcriptional repressor. Has been shown to repress transcription of SRF in vitro and so may play a role in heart development.',NULL,NULL,NULL,NULL,NULL),(7554,'UniProt Function',NULL,9127,NULL,'Transcription factor that binds RNA polymerase II and inhibits the elongation of transcripts from target promoters. Regulates transcription elongation in a TATA box-dependent manner. Necessary for TAT-dependent activation of the human immunodeficiency virus type 1 (HIV-1) promoter.',NULL,NULL,NULL,NULL,NULL),(7555,'UniProt Function',NULL,9128,NULL,'May be required for cellular fusion during osteoclastogenesis.',NULL,NULL,NULL,NULL,NULL),(7556,'UniProt Function',NULL,9129,NULL,'Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds specifically and non-cooperatively to the Sph and GT-IIC \'enhansons\' (5\'-GTGGAATGT-3\') and activates transcription. Binds to the M-CAT motif.',NULL,NULL,NULL,NULL,NULL),(7557,'UniProt Function',NULL,9130,NULL,'Contributes to normal sperm motility, but not essential for male fertility.',NULL,NULL,NULL,NULL,NULL),(7558,'UniProt Function',NULL,9131,NULL,'Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation (PubMed:29445193). Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase. Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites. Is able to unwind DNA. Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes. Required for maintenance of normal levels of mitochondrial DNA. May play a role in organizing and compacting mitochondrial DNA.',NULL,NULL,NULL,NULL,NULL),(7559,'UniProt Function',NULL,9133,NULL,'Isoform Alpha-1: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.',NULL,NULL,NULL,NULL,NULL),(7560,'UniProt Function',NULL,9133,NULL,'Isoform Alpha-2: Does not bind thyroid hormone and functions as a weak dominant negative inhibitor of thyroid hormone action.',NULL,NULL,NULL,NULL,NULL),(7561,'UniProt Function',NULL,9134,NULL,'Abolishes BNIP3-mediated apoptosis and mitochondrial damage.',NULL,NULL,NULL,NULL,NULL),(7562,'UniProt Function',NULL,9136,NULL,'Formation of iron-sulfur complexes, cyanide detoxification or modification of sulfur-containing enzymes. Other thiol compounds, besides cyanide, can act as sulfur ion acceptors. Also has weak mercaptopyruvate sulfurtransferase (MST) activity (By similarity). Together with MRPL18, acts as a mitochondrial import factor for the cytosolic 5S rRNA. Only the nascent unfolded cytoplasmic form is able to bind to the 5S rRNA.',NULL,NULL,NULL,NULL,NULL),(7563,'UniProt Function',NULL,9137,NULL,'Modulates the activity of RHO-like proteins and connects extracellular signals to cytoskeletal activities. Acts as a GDP-dissociation stimulator protein that stimulates the GDP-GTP exchange activity of RHO-like GTPases and activates them. Activates RAC1, CDC42, and to a lesser extent RHOA. Required for normal cell adhesion and cell migration.',NULL,NULL,NULL,NULL,NULL),(7564,'UniProt Function',NULL,9138,NULL,'Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.',NULL,NULL,NULL,NULL,NULL),(7565,'UniProt Function',NULL,9139,NULL,'Probable mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space (By similarity).',NULL,NULL,NULL,NULL,NULL),(7566,'UniProt Function',NULL,9140,NULL,'Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.',NULL,NULL,NULL,NULL,NULL),(7567,'UniProt Function',NULL,9141,NULL,'Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm transition vesicles which derive from part-rough, part-smooth transitional elements of the endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. Regulates E3 ubiquitin-protein ligase activity of RNF19A. Component of the VCP/p97-AMFR/gp78 complex that participates in the final step of the sterol-mediated ubiquitination and endoplasmic reticulum-associated degradation (ERAD) of HMGCR. Involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908). Plays a role in the regulation of stress granules (SGs) clearance process upon arsenite-induced response (PubMed:29804830). Also involved in DNA damage response: recruited to double-strand breaks (DSBs) sites in a RNF8- and RNF168-dependent manner and promotes the recruitment of TP53BP1 at DNA damage sites (PubMed:22020440, PubMed:22120668). Recruited to stalled replication forks by SPRTN: may act by mediating extraction of DNA polymerase eta (POLH) to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage (PubMed:23042607, PubMed:23042605). Required for cytoplasmic retrotranslocation of stressed/damaged mitochondrial outer-membrane proteins and their subsequent proteasomal degradation (PubMed:16186510, PubMed:21118995). Essential for the maturation of ubiquitin-containing autophagosomes and the clearance of ubiquitinated protein by autophagy (PubMed:20104022, PubMed:27753622). Acts as a negative regulator of type I interferon production by interacting with DDX58/RIG-I: interaction takes place when DDX58/RIG-I is ubiquitinated via \'Lys-63\'-linked ubiquitin on its CARD domains, leading to recruit RNF125 and promote ubiquitination and degradation of DDX58/RIG-I (PubMed:26471729). May play a role in the ubiquitin-dependent sorting of membrane proteins to lysosomes where they undergo degradation (PubMed:21822278). May more particularly play a role in caveolins sorting in cells (PubMed:21822278, PubMed:23335559). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333).',NULL,NULL,NULL,NULL,NULL),(7568,'UniProt Function',NULL,9142,NULL,'May inhibit NODAL and BMP signaling during neural patterning (By similarity). May be a tumor suppressor in brain cancers.',NULL,NULL,NULL,NULL,NULL),(7569,'UniProt Function',NULL,9143,NULL,'Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5\'-triphosphate to the 3\'-end of a DNA initiator. One of the in vivo functions of this enzyme is the addition of nucleotides at the junction (N region) of rearranged Ig heavy chain and T-cell receptor gene segments during the maturation of B- and T-cells.',NULL,NULL,NULL,NULL,NULL),(7570,'UniProt Function',NULL,9144,NULL,'Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds to the SPH and GT-IIC \'enhansons\' (5\'-GTGGAATGT-3\'). May be involved in the gene regulation of neural development. Binds to the M-CAT motif.',NULL,NULL,NULL,NULL,NULL),(7571,'UniProt Function',NULL,9146,NULL,'Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction (By similarity).',NULL,NULL,NULL,NULL,NULL),(7572,'UniProt Function',NULL,9147,NULL,'Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3\'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5\'-TTAGGG-3\'. The catalytic cycle involves primer binding, primer extension and release of product once the template boundary has been reached or nascent product translocation followed by further extension. More active on substrates containing 2 or 3 telomeric repeats. Telomerase activity is regulated by a number of factors including telomerase complex-associated proteins, chaperones and polypeptide modifiers. Modulates Wnt signaling. Plays important roles in aging and antiapoptosis.',NULL,NULL,NULL,NULL,NULL),(7573,'UniProt Function',NULL,9160,NULL,'General transcription factor that plays a role in transcription initiation by RNA polymerase II (Pol II). Involved in the pre-initiation complex (PIC) formation and Pol II recruitment at promoter DNA (PubMed:1876184, PubMed:1946368, PubMed:1517211, PubMed:3818643, PubMed:3029109, PubMed:8413225, PubMed:8515820, PubMed:8516311, PubMed:8516312, PubMed:7601352, PubMed:9420329, PubMed:12931194, PubMed:27193682). Together with the TATA box-bound TBP forms the core initiation complex and provides a bridge between TBP and the Pol II-TFIIF complex (PubMed:8504927, PubMed:8413225, PubMed:8515820, PubMed:8516311, PubMed:8516312). Released from the PIC early following the onset of transcription during the initiation and elongation transition and reassociates with TBP during the next transcription cycle (PubMed:7601352). Associates with chromatin to core promoter-specific regions (PubMed:12931194, PubMed:24441171). Binds to two distinct DNA core promoter consensus sequence elements in a TBP-independent manner; these IIB-recognition elements (BREs) are localized immediately upstream (BREu), 5\'-[GC][GC][GA]CGCC-3\', and downstream (BREd), 5\'-[GA]T[TGA][TG][GT][TG][TG]-3\', of the TATA box element (PubMed:9420329, PubMed:16230532, PubMed:7675079, PubMed:10619841). Modulates transcription start site selection (PubMed:10318856). Exhibits also autoacetyltransferase activity that contributes to the activated transcription (PubMed:12931194).',NULL,NULL,NULL,NULL,NULL),(7574,'UniProt Function',NULL,9161,NULL,'Transcription factor that activates both viral and cellular genes by binding to the symmetrical DNA sequence 5\'-CAGCTG-3\'.',NULL,NULL,NULL,NULL,NULL),(7575,'UniProt Function',NULL,9162,NULL,'Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter (By similarity). Collaborates with MITF in target gene activation (By similarity). Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence (By similarity). Binds to mu E3 DNA sequence of the immunoglobulin heavy-chain gene enhancer (By similarity). Binds DNA in a homo- or heterodimeric form.',NULL,NULL,NULL,NULL,NULL),(7576,'UniProt Function',NULL,9163,NULL,'S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity. Compared to TFB1M, it activates transcription of mitochondrial DNA more efficiently, while it has less methyltransferase activity.',NULL,NULL,NULL,NULL,NULL),(7577,'UniProt Function',NULL,9164,NULL,'Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively.',NULL,NULL,NULL,NULL,NULL),(7578,'UniProt Function',NULL,9164,NULL,'Latency-associated peptide: Required to maintain the Transforming growth factor beta-3 (TGF-beta-3) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-3 and regulates its activation via interaction with \'milieu molecules\', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-3 (By similarity). Interaction with integrins results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7579,'UniProt Function',NULL,9164,NULL,'Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains remain non-covalently linked rendering TGF-beta-3 inactive during storage in extracellular matrix (By similarity). At the same time, LAP chain interacts with \'milieu molecules\', such as LTBP1 and LRRC32/GARP that control activation of TGF-beta-3 and maintain it in a latent state during storage in extracellular milieus (By similarity). TGF-beta-3 is released from LAP by integrins: integrin-binding results in distortion of the LAP chain and subsequent release of the active TGF-beta-3 (By similarity). Once activated following release of LAP, TGF-beta-3 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity).',NULL,NULL,NULL,NULL,NULL),(7580,'UniProt Function',NULL,9165,NULL,'Can stimulate E2F-dependent transcription. Binds DNA cooperatively with E2F family members through the E2 recognition site, 5\'-TTTC[CG]CGC-3\', found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The TFDP2:E2F complex functions in the control of cell-cycle progression from G1 to S phase. The E2F1:DP complex appears to mediate both cell proliferation and apoptosis. Blocks adipocyte differentiation by repressing CEBPA binding to its target gene promoters (PubMed:20176812).',NULL,NULL,NULL,NULL,NULL),(7581,'UniProt Function',NULL,9166,NULL,'Chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressors.',NULL,NULL,NULL,NULL,NULL),(7582,'UniProt Function',NULL,9167,NULL,'May be involved in sodium-dependent transport of neutral amino acids or oligopeptides.',NULL,NULL,NULL,NULL,NULL),(7583,'UniProt Function',NULL,9168,NULL,'Plays a central role in late thymocyte development by controlling both positive and negative T-cell selection. Required to sustain and/or integrate signals required for proper lineage commitment and maturation of T-cells. Regulates T-cell development through T-cell antigen receptor (TCR) signaling and in particular through the regulation of calcium influx and phosphorylation of Erk.',NULL,NULL,NULL,NULL,NULL),(7584,'UniProt Function',NULL,9170,NULL,'May be involved (but not essential) in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(7585,'UniProt Function',NULL,9171,NULL,'Hydrolase highly specific for thiamine triphosphate (ThTP).',NULL,NULL,NULL,NULL,NULL),(7586,'UniProt Function',NULL,9172,NULL,'May play a role in cell-cell and cell-matrix interactions. May contribute to various neuronal mechanisms in the central nervous system.',NULL,NULL,NULL,NULL,NULL),(7587,'UniProt Function',NULL,9173,NULL,'Mediates adhesion of proximal tubule epithelial cells via integrins alpha3-beta1 and alphaV-beta3. This is a non catalytic peptidase C1 family protein.',NULL,NULL,NULL,NULL,NULL),(7588,'UniProt Function',NULL,9174,NULL,'May be implicated in the adrenocortical zonation and in mechanisms for repressing the CYP11B1 gene expression in adrenocortical cells. This is a non catalytic peptidase C1 family protein (By similarity).',NULL,NULL,NULL,NULL,NULL),(7589,'UniProt Function',NULL,9175,NULL,'Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles. Endokinin-A induces thermal hyperalgesia and pain-related behavior such as scratching following intrathecal administration in rats. These effects are suppressed by treatment with endokinin-C. Endokinin-A/B reduces arterial blood pressure and increases sperm motility.',NULL,NULL,NULL,NULL,NULL),(7590,'UniProt Function',NULL,9176,NULL,'Involved in endoplasmic reticulum (ER) stress-induced cell death pathway.',NULL,NULL,NULL,NULL,NULL),(7591,'UniProt Function',NULL,9177,NULL,'May bind zinc and other divalent cations and recruit them to vesicular organelles.',NULL,NULL,NULL,NULL,NULL),(7592,'UniProt Function',NULL,9181,NULL,'May play a role in MAPK signaling.',NULL,NULL,NULL,NULL,NULL),(7593,'UniProt Function',NULL,9184,NULL,'Organelle-specific potassium channel specifically responsible for potassium conductance in endosomes and lysosomes. Forms a potassium-permeable leak-like channel, which regulates lumenal pH stability and is required for autophagosome-lysosome fusion. Constitutes the major lysosomal potassium channel.',NULL,NULL,NULL,NULL,NULL),(7594,'UniProt Function',NULL,9186,NULL,'May play a role in the immune response to viral infection.',NULL,NULL,NULL,NULL,NULL),(7595,'UniProt Function',NULL,9190,NULL,'Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton. May play an important role in regulating the organization of actin filaments by preferentially binding to a specific tropomyosin isoform at its N-terminus.',NULL,NULL,NULL,NULL,NULL),(7596,'UniProt Function',NULL,9192,NULL,'Cytokine that binds to TNFRSF13B/TACI and TNFRSF17/BCMA. TNFSF13/APRIL binds to the same 2 receptors. Together, they form a 2 ligands -2 receptors pathway involved in the stimulation of B- and T-cell function and the regulation of humoral immunity. A third B-cell specific BAFF-receptor (BAFFR/BR3) promotes the survival of mature B-cells and the B-cell response.',NULL,NULL,NULL,NULL,NULL),(7597,'UniProt Function',NULL,9192,NULL,'Isoform 2 seems to inhibit isoform 1 secretion and bioactivity.',NULL,NULL,NULL,NULL,NULL),(7598,'UniProt Function',NULL,9192,NULL,'Isoform 3: Acts as a transcription factor for its own parent gene, in association with NF-kappa-B p50 subunit, at least in autoimmune and proliferative B-cell diseases. The presence of Delta4BAFF is essential for soluble BAFF release by IFNG/IFN-gamma-stimulated monocytes and for B-cell survival. It can directly or indirectly regulate the differential expression of a large number of genes involved in the innate immune response and the regulation of apoptosis.',NULL,NULL,NULL,NULL,NULL),(7599,'UniProt Function',NULL,9193,NULL,'Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchor proteins (GPI-AP). Has phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI. Required for the shedding of the GPI-AP TDGF1, but not CFC1, at the cell surface. Shedding of TDGF1 modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells (PubMed:27881714). Also indirectly involved in the translocation of RAC1 from the cytosol to the plasma membrane by maintaining the steady state amount of CAV1-enriched plasma membrane subdomains, stabilizing RAC1 at the plasma membrane (PubMed:27835684). In contrast to myomaker (TMEM8C), has no fusogenic activity (PubMed:26858401).',NULL,NULL,NULL,NULL,NULL),(7600,'UniProt Function',NULL,9197,NULL,'Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix remodeling processes in liver. Through the cleavage of HJV, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis.',NULL,NULL,NULL,NULL,NULL),(7601,'UniProt Function',NULL,9198,NULL,'Serine protease which preferentially hydrolyzes peptides with Arg at the P1 position.',NULL,NULL,NULL,NULL,NULL),(7602,'UniProt Function',NULL,9199,NULL,'Serase-1 and serase-2 are serine proteases that hydrolyze the peptides N-t-Boc-Gln-Ala-Arg-AMC and N-t-Boc-Gln-Gly-Arg-AMC. In contrast, N-t-Boc-Ala-Phe-Lys-AMC and N-t-Boc-Ala-Pro-Ala-AMC are not significantly hydrolyzed.',NULL,NULL,NULL,NULL,NULL),(7603,'UniProt Function',NULL,9204,NULL,'Enhances production of proinflammatory cytokines induced by TNF, IL1B, and TLR ligands. Has a role in TNF activation of both the NF-kappaB and MAPK pathways.',NULL,NULL,NULL,NULL,NULL),(7604,'UniProt Function',NULL,9205,NULL,'Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.',NULL,NULL,NULL,NULL,NULL),(7605,'UniProt Function',NULL,9206,NULL,'Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.',NULL,NULL,NULL,NULL,NULL),(7606,'UniProt Function',NULL,9207,NULL,'Promotes apoptosis, possibly via a pathway that involves the activation of NF-kappa-B. Can also promote apoptosis mediated by BAX and by the release of cytochrome c from the mitochondria into the cytoplasm. Plays a role in neuronal apoptosis, including apoptosis in response to amyloid peptides derived from APP, and is required for both normal cell body death and axonal pruning. Trophic-factor deprivation triggers the cleavage of surface APP by beta-secretase to release sAPP-beta which is further cleaved to release an N-terminal fragment of APP (N-APP). N-APP binds TNFRSF21; this triggers caspase activation and degeneration of both neuronal cell bodies (via caspase-3) and axons (via caspase-6). Negatively regulates oligodendrocyte survival, maturation and myelination. Plays a role in signaling cascades triggered by stimulation of T-cell receptors, in the adaptive immune response and in the regulation of T-cell differentiation and proliferation. Negatively regulates T-cell responses and the release of cytokines such as IL4, IL5, IL10, IL13 and IFNG by Th2 cells. Negatively regulates the production of IgG, IgM and IgM in response to antigens. May inhibit the activation of JNK in response to T-cell stimulation.',NULL,NULL,NULL,NULL,NULL),(7607,'UniProt Function',NULL,9208,NULL,'Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5\'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3\'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3\'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone. As an essential component of the RMI complex it is involved in chromosome separation and the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Has DNA decatenation activity (PubMed:30057030). It is required for mtDNA decatenation and segregation after completion of replication, in a process that does not require BLM, RMI1 and RMI2 (PubMed:29290614).',NULL,NULL,NULL,NULL,NULL),(7608,'UniProt Function',NULL,9209,NULL,'May function as an inhibitor of Wnt/beta-catenin signaling by indirectly interacting with LRP6 and blocking Wnt3a-dependent LRP6 internalization.',NULL,NULL,NULL,NULL,NULL),(7609,'UniProt Function',NULL,9210,NULL,'May play a role in vesicular transport from endoplasmic reticulum to Golgi.',NULL,NULL,NULL,NULL,NULL),(7610,'UniProt Function',NULL,9211,NULL,'Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. The non-muscle isoform may have a role in agonist-mediated receptor internalization.',NULL,NULL,NULL,NULL,NULL),(7611,'UniProt Function',NULL,9212,NULL,'May play a role in vesicular transport from endoplasmic reticulum to Golgi.',NULL,NULL,NULL,NULL,NULL),(7612,'UniProt Function',NULL,9213,NULL,'Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1.',NULL,NULL,NULL,NULL,NULL),(7613,'UniProt Function',NULL,9214,NULL,'Mediates the nuclear export of aminoacylated tRNAs. In the nucleus binds to tRNA and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the tRNA from the export receptor. XPOT then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus.',NULL,NULL,NULL,NULL,NULL),(7614,'UniProt Function',NULL,9215,NULL,'Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gated channel. Forms a twin-pore translocase that uses the membrane potential as external driving force in 2 voltage-dependent steps (By similarity).',NULL,NULL,NULL,NULL,NULL),(7615,'UniProt Function',NULL,9216,NULL,'S-adenosyl-L-methionine-dependent guanine N(1)-methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs (PubMed:23042678). Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs (PubMed:23042678).',NULL,NULL,NULL,NULL,NULL),(7616,'UniProt Function',NULL,9219,NULL,'May play a role in retrograde transport of proteins from the Golgi to the endoplasmic reticulum. May indirectly play a role in protein glycosylation in the Golgi.',NULL,NULL,NULL,NULL,NULL),(7617,'UniProt Function',NULL,9221,NULL,'Can influence paracellular permeability. Appears to be involved in cell-cell interactions through adherens.',NULL,NULL,NULL,NULL,NULL),(7618,'UniProt Function',NULL,9222,NULL,'Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.',NULL,NULL,NULL,NULL,NULL),(7619,'UniProt Function',NULL,9223,NULL,'Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR9 is a nucleotide-sensing TLR which is activated by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:11564765, PubMed:17932028). Controls lymphocyte response to Helicobacter infection (By similarity). Upon CpG stimulation, induces B-cell proliferation, activation, survival and antibody production (PubMed:23857366).',NULL,NULL,NULL,NULL,NULL),(7620,'UniProt Function',NULL,9226,NULL,'Actin-binding protein which may have an oncogenic function and regulates cell proliferation, migration and invasion in cancer cells.',NULL,NULL,NULL,NULL,NULL),(7621,'UniProt Function',NULL,9227,NULL,'Involved in the regulation of telomeric heterochromatin assembly and control of telomere length.',NULL,NULL,NULL,NULL,NULL),(7622,'UniProt Function',NULL,9228,NULL,'Controls the genesis of the spleen. Binds to the DNA sequence 5\'-GGCGGTAAGTGG-3\'.',NULL,NULL,NULL,NULL,NULL),(7623,'UniProt Function',NULL,9231,NULL,'Probable ion channel.',NULL,NULL,NULL,NULL,NULL),(7624,'UniProt Function',NULL,9232,NULL,'Probable ion channel.',NULL,NULL,NULL,NULL,NULL),(7625,'UniProt Function',NULL,9234,NULL,'May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions.',NULL,NULL,NULL,NULL,NULL),(7626,'UniProt Function',NULL,9235,NULL,'Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(7627,'UniProt Function',NULL,9238,NULL,'Inhibits the Wnt/beta-catenin signaling pathway. Crucial for heart development and acts downstream of GATA factors in the pre-cardiac mesoderm to specify lineage commitment of cardiomyocyte development.',NULL,NULL,NULL,NULL,NULL),(7628,'UniProt Function',NULL,9240,NULL,'Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro).',NULL,NULL,NULL,NULL,NULL),(7629,'UniProt Function',NULL,9241,NULL,'Probable protease. Seems to be capable of activating ENaC (By similarity).',NULL,NULL,NULL,NULL,NULL),(7630,'UniProt Function',NULL,9243,NULL,'Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.',NULL,NULL,NULL,NULL,NULL),(7631,'UniProt Function',NULL,9244,NULL,'Inhibits cell growth rate and cell cycle. Induces CDKN1A expression as well as TGF-beta expression. Mediates the inhibitory growth effect of EGR1. Involved in the maturation of snRNAs and snRNA 3\'-tail processing (PubMed:28092684).',NULL,NULL,NULL,NULL,NULL),(7632,'UniProt Function',NULL,9245,NULL,'Seems to function in nuclear protein import as nuclear transport receptor. In vitro, mediates the nuclear import of splicing factor SR proteins RBM4, SFRS1 and SFRS2, by recognizing phosphorylated RS domains.',NULL,NULL,NULL,NULL,NULL),(7633,'UniProt Function',NULL,9247,NULL,'May be involved in intracellular trafficking. Probable association with membranes.',NULL,NULL,NULL,NULL,NULL),(7634,'UniProt Function',NULL,9249,NULL,'Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi.',NULL,NULL,NULL,NULL,NULL),(7635,'UniProt Function',NULL,9250,NULL,'Plays an essential role in the maturation of presomitic mesoderm cells by individual attenuation of both FGF and WNT signaling.',NULL,NULL,NULL,NULL,NULL),(7636,'UniProt Function',NULL,9251,NULL,'Sonic hedgehog protein: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (By similarity). Both activities occur in the reticulum endoplasmic (By similarity). Once cleaved, ShhC is degraded in the endoplasmic reticulum (By similarity).',NULL,NULL,NULL,NULL,NULL),(7637,'UniProt Function',NULL,9251,NULL,'Sonic hedgehog protein N-product: The dually lipidated sonic hedgehog protein N-product (ShhNp) is a morphogen which is essential for a variety of patterning events during development. Induces ventral cell fate in the neural tube and somites (PubMed:24863049). Involved in the patterning of the anterior-posterior axis of the developing limb bud (By similarity). Essential for axon guidance (By similarity). Binds to the patched (PTCH1) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes (PubMed:10753901). In the absence of SHH, PTCH1 represses the constitutive signaling activity of SMO (PubMed:10753901).',NULL,NULL,NULL,NULL,NULL),(7638,'UniProt Function',NULL,9252,NULL,'Involved in maintenance of high-frequency synaptic transmission at hippocampal CA3-CA1 synapses. Regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated state in the presence of glutamate and preventing synaptic depression. May play a role in self-renewal and differentiation of spermatogonial stem cells by inhibiting canonical Wnt signaling pathway.',NULL,NULL,NULL,NULL,NULL),(7639,'UniProt Function',NULL,9253,NULL,'Regulator of short-term neuronal synaptic plasticity in the dentate gyrus. Associates with AMPA receptors (ionotropic glutamate receptors) in synaptic spines and promotes AMPA receptor desensitization at excitatory synapses (By similarity).',NULL,NULL,NULL,NULL,NULL),(7640,'UniProt Function',NULL,9256,NULL,'Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of insulin (INS), insulin-like growth factor I (IGF1), nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), glial cell line-derived neurotrophic factor (GDNF), platelet-derived growth factor (PDGF) and fibroblast growth factors (FGFs). In growth hormone (GH) signaling, autophosphorylated (\'Tyr-813\') JAK2 recruits SH2B1, which in turn is phosphorylated by JAK2 on tyrosine residues. These phosphotyrosines form potential binding sites for other signaling proteins. GH also promotes serine/threonine phosphorylation of SH2B1 and these phosphorylated residues may serve to recruit other proteins to the GHR-JAK2-SH2B1 complexes, such as RAC1. In leptin (LEP) signaling, binds to and potentiates the activation of JAK2 by globally enhancing downstream pathways. In response to leptin, binds simultaneously to both, JAK2 and IRS1 or IRS2, thus mediating formation of a complex of JAK2, SH2B1 and IRS1 or IRS2. Mediates tyrosine phosphorylation of IRS1 and IRS2, resulting in activation of the PI 3-kinase pathway. Acts as positive regulator of NGF-mediated activation of the Akt/Forkhead pathway; prolongs NGF-induced phosphorylation of AKT1 on \'Ser-473\' and AKT1 enzymatic activity. Enhances the kinase activity of the cytokine receptor-associated tyrosine kinase JAK2 and of other receptor tyrosine kinases, such as FGFR3 and NTRK1. For JAK2, the mechanism seems to involve dimerization of both, SH2B1 and JAK2. Enhances RET phosphorylation and kinase activity. Isoforms seem to be differentially involved in IGF-I and PDGF-induced mitogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(7641,'UniProt Function',NULL,9260,NULL,'Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult.',NULL,NULL,NULL,NULL,NULL),(7642,'UniProt Function',NULL,9261,NULL,'Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Also interacts with MXD1-MAX heterodimers to repress transcription by tethering SIN3A to DNA. Acts cooperatively with OGT to repress transcription in parallel with histone deacetylation. Involved in he control of the circadian rhythms. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation. Cooperates with FOXK1 to regulate cell cycle progression probably by repressing cell cycle inhibitor genes expression (By similarity).',NULL,NULL,NULL,NULL,NULL),(7643,'UniProt Function',NULL,9262,NULL,'Transcription factor that plays an important role in the development of several organs, including kidney, skull and stomach. During kidney development, maintains cap mesenchyme multipotent nephron progenitor cells in an undifferentiated state by opposing the inductive signals emanating from the ureteric bud and cooperates with WNT9B to promote renewing progenitor cells proliferation. Acts through its interaction with TCF7L2 and OSR1 in a canonical Wnt signaling independent manner preventing transcription of differentiation genes in cap mesenchyme such as WNT4. Also acts independently of OSR1 to activate expression of many cap mesenchyme genes, including itself, GDNF and OSR1. During craniofacial development plays a role in growth and elongation of the cranial base through regulation of chondrocyte differentiation. During stomach organogenesis, controls pyloric sphincter formation and mucosal growth through regulation of a gene network including NKX2-5, BMPR1B, BMP4, SOX9 and GREM1. During branchial arch development, acts to mediate HOXA2 control over the insulin-like growth factor pathway. Also may be involved in limb tendon and ligament development (By similarity). Plays a role in cell proliferation and migration.',NULL,NULL,NULL,NULL,NULL),(7644,'UniProt Function',NULL,9264,NULL,'Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins involved in cell cycle progression, signal transduction and transcription. Specifically recognizes phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition. Degradation of CDKN1B/p27kip also requires CKS1. Recognizes target proteins ORC1, CDT1, RBL2, KMT2A/MLL1, CDK9, RAG2, FOXO1, UBP43, and probably MYC, TOB1 and TAL1. Degradation of TAL1 also requires STUB1. Recognizes CDKN1A in association with CCNE1 or CCNE2 and CDK2. Promotes ubiquitination and destruction of CDH1 in a CK1-Dependent Manner, thereby regulating cell migration.',NULL,NULL,NULL,NULL,NULL),(7645,'UniProt Function',NULL,9264,NULL,'Through the ubiquitin-mediated proteasomal degradation of hepatitis C virus non-structural protein 5A, has an antiviral activity towards that virus.',NULL,NULL,NULL,NULL,NULL),(7646,'UniProt Function',NULL,9266,NULL,'Probable ion channel.',NULL,NULL,NULL,NULL,NULL),(7647,'UniProt Function',NULL,9268,NULL,'Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Contributes to the coupled localization of TMED2 and TMED10 in the cis-Golgi network.',NULL,NULL,NULL,NULL,NULL),(7648,'UniProt Function',NULL,9271,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically (PubMed:22952240, PubMed:26601204). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(7649,'UniProt Function',NULL,9274,NULL,'Plays a role in the regulation of contractile properties of both striated and smooth muscles. When unphosphorylated, may inhibit myosin dephosphorylation. Phosphorylation at Ser-299 reduces this inhibitory activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(7650,'UniProt Function',NULL,9275,NULL,'Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.',NULL,NULL,NULL,NULL,NULL),(7651,'UniProt Function',NULL,9276,NULL,'Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box.',NULL,NULL,NULL,NULL,NULL),(7652,'UniProt Function',NULL,9277,NULL,'Plays a role in the toxic effects of organotins (PubMed:15269288). Plays a role in endosomal maturation (PubMed:27015288).',NULL,NULL,NULL,NULL,NULL),(7653,'UniProt Function',NULL,9278,NULL,'Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons (PubMed:19417104). Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8 (PubMed:19417104). Plays a role in brain, heart, and eye development (By similarity).',NULL,NULL,NULL,NULL,NULL),(7654,'UniProt Function',NULL,9279,NULL,'Plays a role in cell-cell interaction, cell migration, and angiogenesis. Through interaction with HHLA2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade.',NULL,NULL,NULL,NULL,NULL),(7655,'UniProt Function',NULL,9280,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Is required in the specific splicing of CDKN1A pre-mRNA; the function probably involves the recruitment of U2AF2 to the mRNA. Is proposed to recruit PPIL1 to the spliceosome. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3\'end of the CCND1 gene and its mRNA. Involved in transcriptional regulation. Modulates TGF-beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1, RB1-mediated transcriptional repression, and retinoid-X receptor (RXR)- and vitamin D receptor (VDR)-dependent gene transcription in a cell line-specific manner probably involving coactivators NCOA1 and GRIP1. Is involved in NOTCH1-mediated transcriptional activation. Binds to multimerized forms of Notch intracellular domain (NICD) and is proposed to recruit transcriptional coactivators such as MAML1 to form an intermediate preactivation complex which associates with DNA-bound CBF-1/RBPJ to form a transcriptional activation complex by releasing SNW1 and redundant NOTCH1 NICD.',NULL,NULL,NULL,NULL,NULL),(7656,'UniProt Function',NULL,9280,NULL,'(Microbial infection) Is recruited by HIV-1 Tat to Tat:P-TEFb:TAR RNA complexes and is involved in Tat transcription by recruitment of MYC, MEN1 and TRRAP to the HIV promoter.',NULL,NULL,NULL,NULL,NULL),(7657,'UniProt Function',NULL,9280,NULL,'(Microbial infection) Proposed to be involved in transcriptional activation by EBV EBNA2 of CBF-1/RBPJ-repressed promoters.',NULL,NULL,NULL,NULL,NULL),(7658,'UniProt Function',NULL,9281,NULL,'Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1.',NULL,NULL,NULL,NULL,NULL),(7659,'UniProt Function',NULL,9282,NULL,'Involved in the regulation of endocytosis and in several stages of intracellular trafficking (PubMed:12668730). Plays a role in recycling endocytosed transferrin receptor and prevent its degradation.',NULL,NULL,NULL,NULL,NULL),(7660,'UniProt Function',NULL,9285,NULL,'Critical regulator of endosomal recycling of numerous receptors, channels, and other transmembrane proteins. Binds to NPxY sequences in the cytoplasmic tails of target cargos. Plays a role in the sorting of endocytosed LRP1 and APP, and prevents their degradation. Required for maintenance of normal cell surface levels of APP and LRP1. Recycles internalized integrins ITGB1, ITGB5 and their associated alpha subunits, preventing them from lysosomal degradation. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)).',NULL,NULL,NULL,NULL,NULL),(7661,'UniProt Function',NULL,9286,NULL,'Mediates the Na(+)-independent transport of organic anions such as taurocholate, the prostaglandins PGD2, PGE1, PGE2, leukotriene C4, thromboxane B2 and iloprost.',NULL,NULL,NULL,NULL,NULL),(7662,'UniProt Function',NULL,9289,NULL,'Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase.',NULL,NULL,NULL,NULL,NULL),(7663,'UniProt Function',NULL,9290,NULL,'May be involved in several stages of intracellular trafficking.',NULL,NULL,NULL,NULL,NULL),(7664,'UniProt Function',NULL,9291,NULL,'Acts as a regulator of autophagy in response to S.aureus infection by promoting activation of LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C). Acts by interacting with ATG16L1, leading to promote a functional complex between LC3 and ATG16L1 and promoting LC3 lipidation and subsequent activation of autophagy (PubMed:27273576, PubMed:23376921). Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of several proteins such as APP, BACE1, SEAP or PRNP (PubMed:20427278). Inhibits APP transport to the cell surface and further shedding (PubMed:20427278).',NULL,NULL,NULL,NULL,NULL),(7665,'UniProt Function',NULL,9292,NULL,'SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits for instance EGF signaling by mediating the degradation of the EGF receptor/EGFR. Involved in the regulation of T-helper cell differentiation by inhibiting of the IL4 signaling pathway which promotes differentiation into the Th2 phenotype. Can also partially inhibit IL6 and LIF signaling.',NULL,NULL,NULL,NULL,NULL),(7666,'UniProt Function',NULL,9293,NULL,'Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling. Plays a role in priming antigen-specific T-cells, promotes differentiation of Th1 T-helper cells, and thereby contributes to adaptive immunity. Promotes phosphorylation of TIMD2. Inhibits angiogenesis. Promotes axon growth cone collapse. Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons (By similarity).',NULL,NULL,NULL,NULL,NULL),(7667,'UniProt Function',NULL,9294,NULL,'Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons.',NULL,NULL,NULL,NULL,NULL),(7668,'UniProt Function',NULL,9295,NULL,'Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections.',NULL,NULL,NULL,NULL,NULL),(7669,'UniProt Function',NULL,9296,NULL,'Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). May play a role in platelet secretion. Isoform ARTS, but not the other isoforms, is required for the induction of cell death mediated by TGF-beta and by other apoptotic stimuli.',NULL,NULL,NULL,NULL,NULL),(7670,'UniProt Function',NULL,9297,NULL,'Protease that releases SUMO2 and SUMO3 monomers from sumoylated substrates, but has only weak activity against SUMO1 conjugates. Deconjugates SUMO2 from MEF2D, which increases its transcriptional activation capability. Deconjugates SUMO2 and SUMO3 from CDCA8. Redox sensor that, when redistributed into nucleoplasm, can act as an effector to enhance HIF1A transcriptional activity by desumoylating EP300. Required for rRNA processing through deconjugation of SUMO2 and SUMO3 from nucleophosmin, NPM1. Plays a role in the regulation of sumoylation status of ZNF148. Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes.',NULL,NULL,NULL,NULL,NULL),(7671,'UniProt Function',NULL,9298,NULL,'Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).',NULL,NULL,NULL,NULL,NULL),(7672,'UniProt Function',NULL,9299,NULL,'Functions as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway through the GATOR complex. In absence of leucine, binds the GATOR subcomplex GATOR2 and prevents TORC1 signaling. Binding of leucine to SESN2 disrupts its interaction with GATOR2 thereby activating the TORC1 signaling pathway (PubMed:25263562, PubMed:26449471). This stress-inducible metabolic regulator may also play a role in protection against oxidative and genotoxic stresses (By similarity). May positively regulate the transcription by NFE2L2 of genes involved in the response to oxidative stress by facilitating the SQSTM1-mediated autophagic degradation of KEAP1 (PubMed:23274085). May have an alkylhydroperoxide reductase activity born by the N-terminal domain of the protein (By similarity). Was originally reported to contribute to oxidative stress resistance by reducing PRDX1 (PubMed:15105503). However, this could not be confirmed (By similarity).',NULL,NULL,NULL,NULL,NULL),(7673,'UniProt Function',NULL,9300,NULL,'Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3\' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111).',NULL,NULL,NULL,NULL,NULL),(7674,'UniProt Function',NULL,9301,NULL,'In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration.',NULL,NULL,NULL,NULL,NULL),(7675,'UniProt Function',NULL,9302,NULL,'Contributes to the lung\'s defense against inhaled microorganisms, organic antigens and toxins. Interacts with compounds such as bacterial lipopolysaccharides, oligosaccharides and fatty acids and modulates leukocyte action in immune response. May participate in the extracellular reorganization or turnover of pulmonary surfactant. Binds strongly maltose residues and to a lesser extent other alpha-glucosyl moieties.',NULL,NULL,NULL,NULL,NULL),(7676,'UniProt Function',NULL,9303,NULL,'May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones.',NULL,NULL,NULL,NULL,NULL),(7677,'UniProt Function',NULL,9304,NULL,'May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones.',NULL,NULL,NULL,NULL,NULL),(7678,'UniProt Function',NULL,9305,NULL,'Seems to be involved in the regulation of chemotactic cell migration and invasion.',NULL,NULL,NULL,NULL,NULL),(7679,'UniProt Function',NULL,9306,NULL,'May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones.',NULL,NULL,NULL,NULL,NULL),(7680,'UniProt Function',NULL,9307,NULL,'Interacts with numerous Rab family members, functioning as Rab effector for some, and as GTPase activator for others. Promotes GTP hydrolysis by RAB34 and RAB36. Probably functions as GTPase effector with RAB9A and RAB9B; does not stimulate GTP hydrolysis with RAB9A and RAB9B.',NULL,NULL,NULL,NULL,NULL),(7681,'UniProt Function',NULL,9309,NULL,'Could act as a modulator of glutaredoxin biological activity.',NULL,NULL,NULL,NULL,NULL),(7682,'UniProt Function',NULL,9310,NULL,'May play a cooperative role in NF2-mediated growth suppression of cells.',NULL,NULL,NULL,NULL,NULL),(7683,'UniProt Function',NULL,9311,NULL,'May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin-mediated endocytosis. Alternatively, may act as a negative regulator of the amino acid-induced TOR signaling by inhibiting the formation of active Rag GTPase complexes. Preferentially binds inactive Rag GTPase complexes and prevents their interaction with the mTORC1 complex inhibiting its relocalization to lysosomes and its activation. Thereby, may indirectly regulate cell growth, proliferation and autophagy.',NULL,NULL,NULL,NULL,NULL),(7684,'UniProt Function',NULL,9313,NULL,'Cell death receptor specific for IGFBP3, may mediate caspase-8-dependent apoptosis upon ligand binding.',NULL,NULL,NULL,NULL,NULL),(7685,'UniProt Function',NULL,9316,NULL,'Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214). Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity). May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3.',NULL,NULL,NULL,NULL,NULL),(7686,'UniProt Function',NULL,9317,NULL,'Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Seems to play an important role in colonic sodium absorption.',NULL,NULL,NULL,NULL,NULL),(7687,'UniProt Function',NULL,9318,NULL,'Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Can mediate natural killer (NK) cell cytotoxicity dependent on SH2D1A and SH2D1B (By similarity). Increases proliferative responses of activated T-cells and SH2D1A/SAP does not seem be required for this process. Homophilic interactions enhance interferon gamma/IFNG secretion in lymphocytes and induce platelet stimulation via a SH2D1A-dependent pathway. May serve as a marker for hematopoietic progenitor cells (PubMed:11564780, PubMed:12115647. PubMed:12928397, PubMed:12962726, PubMed:16037392) Required for a prolonged T-cell:B-cell contact, optimal T follicular helper function, and germinal center formation. In germinal centers involved in maintaining B-cell tolerance and in preventing autoimmunity (By similarity). In mast cells negatively regulates high affinity immunoglobulin epsilon receptor signaling; independent of SH2D1A and SH2D1B but implicating FES and PTPN6/SHP-1 (PubMed:22068234). In macrophages enhances LPS-induced MAPK phosphorylation and NF-kappaB activation and modulates LPS-induced cytokine secretion; involving ITSM 2 (By similarity). Positively regulates macroautophagy in primary dendritic cells via stabilization of IRF8; inhibits TRIM21-mediated proteasomal degradation of IRF8 (PubMed:29434592).',NULL,NULL,NULL,NULL,NULL),(7688,'UniProt Function',NULL,9321,NULL,'Cell surface proteoglycan that may bear heparan sulfate (By similarity). May have a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism.',NULL,NULL,NULL,NULL,NULL),(7689,'UniProt Function',NULL,9322,NULL,'Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5\' and 3\' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2\',3\' cyclic phosphate and 5\'-OH termini (PubMed:15109492, PubMed:27392077). There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3\'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3\'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events (PubMed:15109492).',NULL,NULL,NULL,NULL,NULL),(7690,'UniProt Function',NULL,9323,NULL,'May be involved in a redox-related process.',NULL,NULL,NULL,NULL,NULL),(7691,'UniProt Function',NULL,9324,NULL,'Plays a role as a glutathione (GSH)-dependent antioxidant. May be involved in a redox-related process. May play a role in the myopathies of selenium deficiency (By similarity).',NULL,NULL,NULL,NULL,NULL),(7692,'UniProt Function',NULL,9325,NULL,'Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5\' and 3\' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2\',3\' cyclic phosphate and 5\'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3\'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3\'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events.',NULL,NULL,NULL,NULL,NULL),(7693,'UniProt Function',NULL,9326,NULL,'Cell surface receptor for PLXNB2. May play a role in axon guidance (By similarity).',NULL,NULL,NULL,NULL,NULL),(7694,'UniProt Function',NULL,9327,NULL,'May act as positive axonal guidance cues.',NULL,NULL,NULL,NULL,NULL),(7695,'UniProt Function',NULL,9328,NULL,'Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role in ciliogenesis and collective cell movements. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830).',NULL,NULL,NULL,NULL,NULL),(7696,'UniProt Function',NULL,9329,NULL,'Histone methyltransferase that specifically methylates \'Lys-4\' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring \'Lys-9\' residue is already methylated. H3 \'Lys-4\' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression.',NULL,NULL,NULL,NULL,NULL),(7697,'UniProt Function',NULL,9331,NULL,'Histone methyltransferase that methylates \'Lys-4\' and \'Lys-36\' of histone H3 (H3K4me and H3K36me). Acts as a transcriptional activator. Plays an important role in the transcriptional regulation of muscle cell differentiation via interaction with MYOD1.',NULL,NULL,NULL,NULL,NULL),(7698,'UniProt Function',NULL,9332,NULL,'Plays a role in the dynamic structure of centrosome-associated contractile fibers via its interaction with CETN2.',NULL,NULL,NULL,NULL,NULL),(7699,'UniProt Function',NULL,9333,NULL,'Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5\'-UACUAAC-3\' of the pre-mRNA. May act as transcription repressor.',NULL,NULL,NULL,NULL,NULL),(7700,'UniProt Function',NULL,9334,NULL,'Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP2 may be important for eye retinal development and for myogenesis.',NULL,NULL,NULL,NULL,NULL),(7701,'UniProt Function',NULL,9335,NULL,'Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(7702,'UniProt Function',NULL,9336,NULL,'Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types (By similarity). SFRP4 plays a role in bone morphogenesis. May also act as a regulator of adult uterine morphology and function. May also increase apoptosis during ovulation possibly through modulation of FZ1/FZ4/WNT4 signaling (By similarity). Has phosphaturic effects by specifically inhibiting sodium-dependent phosphate uptake (PubMed:12952927).',NULL,NULL,NULL,NULL,NULL),(7703,'UniProt Function',NULL,9337,NULL,'Possesses GTPase activator activity towards RAB32, RAB33B and RAB38 (PubMed:26620560, PubMed:21808068). Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation (PubMed:26620560).',NULL,NULL,NULL,NULL,NULL),(7704,'UniProt Function',NULL,9340,NULL,'Transfers sialic acid from CMP-sialic acid to galactose-containing acceptor substrates.',NULL,NULL,NULL,NULL,NULL),(7705,'UniProt Function',NULL,9341,NULL,'Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,8-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules.',NULL,NULL,NULL,NULL,NULL),(7706,'UniProt Function',NULL,9342,NULL,'Binds sialylated glycoproteins.',NULL,NULL,NULL,NULL,NULL),(7707,'UniProt Function',NULL,9343,NULL,'Stimulates formation of NaHCO(3)-rich pancreatic juice and secretion of NaHCO(3)-rich bile and inhibits HCl production by the stomach.',NULL,NULL,NULL,NULL,NULL),(7708,'UniProt Function',NULL,9344,NULL,'Cell surface receptor for PLXNB2 that plays an important role in cell-cell signaling. PLXNB2 binding promotes downstream activation of RHOA and phosphorylation of ERBB2 at \'Tyr-1248\'. Required for normal brain development, axon guidance and cell migration (By similarity). Probable signaling receptor which may play a role in myogenic differentiation through activation of the stress-activated MAPK cascade.',NULL,NULL,NULL,NULL,NULL),(7709,'UniProt Function',NULL,9345,NULL,'May play a role in both peripheral and central nervous system development.',NULL,NULL,NULL,NULL,NULL),(7710,'UniProt Function',NULL,9347,NULL,'Protease that catalyzes two essential functions in the SUMO pathway. The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. May down-regulate CTNNB1 levels and thereby modulate the Wnt pathway. Deconjugates SUMO2 from MTA1. Plays a dynamic role in adipogenesis by desumoylating and promoting the stabilization of CEBPB (PubMed:20194620).',NULL,NULL,NULL,NULL,NULL),(7711,'UniProt Function',NULL,9348,NULL,'Protease that deconjugates SUMO1, SUMO2 and SUMO3 from targeted proteins. Processes preferentially poly-SUMO2 and poly-SUMO3 chains, but does not efficiently process SUMO1, SUMO2 and SUMO3 precursors. Deconjugates SUMO1 from RXRA, leading to transcriptional activation. Involved in chromosome alignment and spindle assembly, by regulating the kinetochore CENPH-CENPI-CENPK complex. Desumoylates PML and CENPI, protecting them from degradation by the ubiquitin ligase RNF4, which targets polysumoylated proteins for proteasomal degradation. Desumoylates also RPA1, thus preventing recruitment of RAD51 to the DNA damage foci to initiate DNA repair through homologous recombination.',NULL,NULL,NULL,NULL,NULL),(7712,'UniProt Function',NULL,9349,NULL,'Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for \'A\' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA (PubMed:12234937). Directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing (PubMed:16432215). Enters the spliceosome and associates with the pre-mRNA branch site as part of the 17S U2 or, in the case of the minor spliceosome, as part of the 18S U11/U12 snRNP complex, and thus may facilitate the interaction of these snRNP with the branch sites of U2 and U12 respectively (PubMed:16432215).',NULL,NULL,NULL,NULL,NULL),(7713,'UniProt Function',NULL,9350,NULL,'Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.',NULL,NULL,NULL,NULL,NULL),(7714,'UniProt Function',NULL,9351,NULL,'Histone methyltransferase that specifically monomethylates \'Lys-4\' of histone H3. H3 \'Lys-4\' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes such as collagenase or insulin. Recruited by IPF1/PDX-1 to the insulin promoter, leading to activate transcription. Has also methyltransferase activity toward non-histone proteins such as p53/TP53, TAF10, and possibly TAF7 by recognizing and binding the [KR]-[STA]-K in substrate proteins. Monomethylates \'Lys-189\' of TAF10, leading to increase the affinity of TAF10 for RNA polymerase II. Monomethylates \'Lys-372\' of p53/TP53, stabilizing p53/TP53 and increasing p53/TP53-mediated transcriptional activation.',NULL,NULL,NULL,NULL,NULL),(7715,'UniProt Function',NULL,9352,NULL,'Subunit of the splicing factor SF3A required for \'A\' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the \'E\' complex.',NULL,NULL,NULL,NULL,NULL),(7716,'UniProt Function',NULL,9353,NULL,'May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex.',NULL,NULL,NULL,NULL,NULL),(7717,'UniProt Function',NULL,9355,NULL,'Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature. Required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 to mediate BDNF-NTRK2 early endocytic trafficking and signaling from early endosomes.',NULL,NULL,NULL,NULL,NULL),(7718,'UniProt Function',NULL,9356,NULL,'Responsible for the synthesis of the sequence NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- found on sugar chains O-linked to Thr or Ser and also as a terminal sequence on certain gangliosides. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values.',NULL,NULL,NULL,NULL,NULL),(7719,'UniProt Function',NULL,9357,NULL,'Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and HOMER, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction through the interaction with Arp2/3 and WAVE1 complex as well as the promotion of the F-actin clusters. By way of this control of actin dynamics, participates in the regulation of developing neurons growth cone motility and the NMDA receptor-signaling. Also modulates GRIA1 exocytosis and GRM5/MGLUR5 expression and signaling to control the AMPA and metabotropic glutamate receptor-mediated synaptic transmission and plasticity. May be required at an early stage of synapse formation and be inhibited by IGF1 to promote synapse maturation.',NULL,NULL,NULL,NULL,NULL),(7720,'UniProt Function',NULL,9358,NULL,'Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection. Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres.',NULL,NULL,NULL,NULL,NULL),(7721,'UniProt Function',NULL,9359,NULL,'May function as sterol isomerase.',NULL,NULL,NULL,NULL,NULL),(7722,'UniProt Function',NULL,9360,NULL,'Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule.',NULL,NULL,NULL,NULL,NULL),(7723,'UniProt Function',NULL,9361,NULL,'Thought to act as molecular guidance cue in cellular migration, and function appears to be mediated by interaction with roundabout homolog receptors. During neural development involved in axonal navigation at the ventral midline of the neural tube and projection of axons to different regions. SLIT1 and SLIT2 seem to be essential for midline guidance in the forebrain by acting as repulsive signal preventing inappropriate midline crossing by axons projecting from the olfactory bulb. In spinal chord development may play a role in guiding commissural axons once they reached the floor plate by modulating the response to netrin. In vitro, silences the attractive effect of NTN1 but not its growth-stimulatory effect and silencing requires the formation of a ROBO1-DCC complex. May be implicated in spinal chord midline post-crossing axon repulsion. In vitro, only commissural axons that crossed the midline responded to SLIT2. In the developing visual system appears to function as repellent for retinal ganglion axons by providing a repulsion that directs these axons along their appropriate paths prior to, and after passage through, the optic chiasm. In vitro, collapses and repels retinal ganglion cell growth cones. Seems to play a role in branching and arborization of CNS sensory axons, and in neuronal cell migration. In vitro, Slit homolog 2 protein N-product, but not Slit homolog 2 protein C-product, repels olfactory bulb (OB) but not dorsal root ganglia (DRG) axons, induces OB growth cones collapse and induces branching of DRG axons. Seems to be involved in regulating leukocyte migration.',NULL,NULL,NULL,NULL,NULL),(7724,'UniProt Function',NULL,9363,NULL,'Cell surface proteoglycan that bears heparan sulfate. Regulates dendritic arbor morphogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(7725,'UniProt Function',NULL,9364,NULL,'Promotes neuronal cells survival to stress conditions.',NULL,NULL,NULL,NULL,NULL),(7726,'UniProt Function',NULL,9365,NULL,'Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:24781757). Can act as a tumor suppressor (PubMed:20484225).',NULL,NULL,NULL,NULL,NULL),(7727,'UniProt Function',NULL,9366,NULL,'Adhesion molecule that promotes lamina-specific synaptic connections in the retina. Expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions.',NULL,NULL,NULL,NULL,NULL),(7728,'UniProt Function',NULL,9367,NULL,'A SLe(x)-type proteoglycan, which through high affinity, calcium-dependent interactions with E-, P- and L-selectins, mediates rapid rolling of leukocytes over vascular surfaces during the initial steps in inflammation. Critical for the initial leukocyte capture.',NULL,NULL,NULL,NULL,NULL),(7729,'UniProt Function',NULL,9367,NULL,'(Microbial infection) Acts as a receptor for enterovirus 71.',NULL,NULL,NULL,NULL,NULL),(7730,'UniProt Function',NULL,9368,NULL,'Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant for growing axons, and thereby plays an important role in axon growth and axon guidance (By similarity).',NULL,NULL,NULL,NULL,NULL),(7731,'UniProt Function',NULL,9369,NULL,'May be involved in redox reactions associated with the formation of disulfide bonds. May contribute to the quality control of protein folding in the endoplasmic reticulum (By similarity).',NULL,NULL,NULL,NULL,NULL),(7732,'UniProt Function',NULL,9370,NULL,'Plays an important role in signaling via the cell surface receptor PLXND1. Mediates reorganization of the actin cytoskeleton, leading to the retraction of cell projections. Promotes focal adhesion disassembly and inhibits adhesion of endothelial cells to the extracellular matrix. Regulates angiogenesis, both during embryogenesis and after birth. Can down-regulate sprouting angiogenesis. Required for normal vascular patterning during embryogenesis. Plays an important role in ensuring the specificity of synapse formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(7733,'UniProt Function',NULL,9371,NULL,'Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections.',NULL,NULL,NULL,NULL,NULL),(7734,'UniProt Function',NULL,9372,NULL,'Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Involved in cytokinesis. May play a role in HCV RNA replication. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830).',NULL,NULL,NULL,NULL,NULL),(7735,'UniProt Function',NULL,9373,NULL,'Predominant protein in semen. It participates in the formation of a gel matrix entrapping the accessory gland secretions and ejaculated spermatozoa. Fragments of semenogelin and/or fragments of the related proteins may contribute to the activation of progressive sperm movements as the gel-forming proteins are fragmented by KLK3/PSA.',NULL,NULL,NULL,NULL,NULL),(7736,'UniProt Function',NULL,9373,NULL,'Alpha-inhibin-92 and alpha-inhibin-31, derived from the proteolytic degradation of semenogelin, inhibit the secretion of pituitary follicle-stimulating hormone.',NULL,NULL,NULL,NULL,NULL),(7737,'UniProt Function',NULL,9374,NULL,'Enhances the incorporation of serine into phosphatidylserine and sphingolipids.',NULL,NULL,NULL,NULL,NULL),(7738,'UniProt Function',NULL,9375,NULL,'Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.',NULL,NULL,NULL,NULL,NULL),(7739,'UniProt Function',NULL,9376,NULL,'Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination (PubMed:21252223). Acts as a transcriptional modulator for ESR1 (PubMed:23874500).',NULL,NULL,NULL,NULL,NULL),(7740,'UniProt Function',NULL,9377,NULL,'Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Has also kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5\'-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity (PubMed:16332963, PubMed:16672366, PubMed:17877369, PubMed:17403897, PubMed:18263876, PubMed:22231448, PubMed:24573677, PubMed:20521842). In parallel, has a histone methyltransferase activity and methylates \'Lys-4\' and \'Lys-36\' of histone H3. Specifically mediates dimethylation of H3 \'Lys-36\' at sites of DNA double-strand break and may recruit proteins required for efficient DSB repair through non-homologous end-joining (PubMed:16332963, PubMed:21187428, PubMed:22231448). Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A (PubMed:18790802, PubMed:20457750).',NULL,NULL,NULL,NULL,NULL),(7741,'UniProt Function',NULL,9378,NULL,'Functions as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway through the GATOR complex. In absence of leucine, binds the GATOR subcomplex GATOR2 and prevents TORC1 signaling (PubMed:18692468, PubMed:25263562, PubMed:25457612, PubMed:26449471, PubMed:26612684, PubMed:26586190). Binding of leucine to SESN2 disrupts its interaction with GATOR2 thereby activating the TORC1 signaling pathway (PubMed:26449471, PubMed:26586190). This stress-inducible metabolic regulator also plays a role in protection against oxidative and genotoxic stresses. May negatively regulate protein translation in response to endoplasmic reticulum stress, via TORC1 (PubMed:24947615). May positively regulate the transcription by NFE2L2 of genes involved in the response to oxidative stress by facilitating the SQSTM1-mediated autophagic degradation of KEAP1 (PubMed:23274085). May also mediate TP53 inhibition of TORC1 signaling upon genotoxic stress (PubMed:18692468). Has an alkylhydroperoxide reductase activity born by the N-terminal domain of the protein (PubMed:26612684). Was originally reported to contribute to oxidative stress resistance by reducing PRDX1 (PubMed:15105503). However, this could not be confirmed (PubMed:19113821).',NULL,NULL,NULL,NULL,NULL),(7742,'UniProt Function',NULL,9379,NULL,'Eph receptor-binding protein which may be a positive regulator of TCR signaling. Binding to BCAR1 is required to induce membrane ruffling and promote EGF-dependent cell migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(7743,'UniProt Function',NULL,9380,NULL,'Has specific phosphohydrolase activity towards sphingoid base 1-phosphates. Has high phosphohydrolase activity against dihydrosphingosine-1-phosphate and sphingosine-1-phosphate (S1P) in vitro. May play a role in attenuating intracellular sphingosine 1-phosphate (S1P) signaling. May play a role in pro-inflammatory signaling.',NULL,NULL,NULL,NULL,NULL),(7744,'UniProt Function',NULL,9381,NULL,'Intracellular orphan receptor that binds numerous drugs and which is highly expressed in various proliferating cancer cells (PubMed:28559337). Corresponds to the sigma-2 receptor, which is thought to play important role in regulating cell survival, morphology and differentiation (PubMed:23922215, PubMed:25620095). Under investigation for its potential diagnostic and therapeutic uses (PubMed:23922215, PubMed:25620095). May play a role as a regulator of cellular cholesterol homeostasis (PubMed:19583955). May function as sterol isomerase (PubMed:25566323). May alter the activity of some cytochrome P450 proteins (PubMed:22292588).',NULL,NULL,NULL,NULL,NULL),(7745,'UniProt Function',NULL,9382,NULL,'Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, and NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. It may be involved in the biosynthesis of the sialyl Lewis X determinant.',NULL,NULL,NULL,NULL,NULL),(7746,'UniProt Function',NULL,9383,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (GPS2, POU2AF1, PML, NCOR1), a cell surface receptor (DCC), an antiapoptotic protein (BAG1), and a protein involved in synaptic vesicle function in neurons (SYP). Mediates ubiquitination and proteasomal degradation of DYRK2 in response to hypoxia. It is thereby involved in apoptosis, tumor suppression, cell cycle, transcription and signaling processes. Has some overlapping function with SIAH1. Triggers the ubiquitin-mediated degradation of TRAF2, whereas SIAH1 does not. Promotes monoubiquitination of SNCA. Regulates cellular clock function via ubiquitination of the circadian transcriptional repressors NR1D1 and NR1D2 leading to their proteasomal degradation. Plays an important role in mediating the rhythmic degradation/clearance of NR1D1 and NR1D2 contributing to their circadian profile of protein abundance (PubMed:26392558).',NULL,NULL,NULL,NULL,NULL),(7747,'UniProt Function',NULL,9384,NULL,'Catalyzes the transfer of N-acetylneuraminyl groups onto glycan chains in glycoproteins.',NULL,NULL,NULL,NULL,NULL),(7748,'UniProt Function',NULL,9385,NULL,'Component of the LUBAC complex which conjugates linear polyubiquitin chains in a head-to-tail manner to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex. Together with OTULIN, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis.',NULL,NULL,NULL,NULL,NULL),(7749,'UniProt Function',NULL,9386,NULL,'Has E3 ubiquitin-protein ligase activity.',NULL,NULL,NULL,NULL,NULL),(7750,'UniProt Function',NULL,9388,NULL,'May be required for normal outer mitochondrial membrane dynamics (PubMed:15452144). Required for coatomer-mediated retrograde transport in certain cells (By similarity). May recruit other proteins to membranes with high curvature. May promote membrane fusion (PubMed:11604418). Involved in activation of caspase-dependent apoptosis by promoting BAX/BAK1 activation (PubMed:16227588). Isoform 1 acts proapoptotic in fibroblasts (By similarity). Involved in caspase-independent apoptosis during nutrition starvation and involved in the regulation of autophagy. Activates lipid kinase activity of PIK3C3 during autophagy probably by associating with the PI3K complex II (PI3KC3-C2) (PubMed:17891140). Associated with PI3KC3-C2 during autophagy may regulate the trafficking of ATG9A from the Golgi complex to the peripheral cytoplasm for the formation of autophagosomes by inducing Golgi membrane tubulation and fragmentation (PubMed:21068542). Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123). Isoform 2 acts antiapoptotic in neuronal cells; involved in maintenance of mitochondrial morphology and promotes neuronal viability (By similarity).',NULL,NULL,NULL,NULL,NULL),(7751,'UniProt Function',NULL,9389,NULL,'May play a role in JNK activation.',NULL,NULL,NULL,NULL,NULL),(7752,'UniProt Function',NULL,9390,NULL,'Functions as an androgen transport protein, but may also be involved in receptor mediated processes. Each dimer binds one molecule of steroid. Specific for 5-alpha-dihydrotestosterone, testosterone, and 17-beta-estradiol. Regulates the plasma metabolic clearance rate of steroid hormones by controlling their plasma concentration.',NULL,NULL,NULL,NULL,NULL),(7753,'UniProt Function',NULL,9391,NULL,'Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- and alpha-2,6-linked sialic acid. Also binds disialogangliosides (disialogalactosyl globoside, disialyl lactotetraosylceramide and disialyl GalNAc lactotetraoslylceramide). The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. Mediates inhibition of natural killer cells cytotoxicity. May play a role in hemopoiesis. Inhibits differentiation of CD34+ cell precursors towards myelomonocytic cell lineage and proliferation of leukemic myeloid cells (in vitro).',NULL,NULL,NULL,NULL,NULL),(7754,'UniProt Function',NULL,9392,NULL,'Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5 activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3.',NULL,NULL,NULL,NULL,NULL),(7755,'UniProt Function',NULL,9393,NULL,'May function as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway (PubMed:25263562). May also regulate the insulin-receptor signaling pathway through activation of TORC2 (By similarity). This metabolic regulator may also play a role in protection against oxidative and genotoxic stresses (By similarity).',NULL,NULL,NULL,NULL,NULL),(7756,'UniProt Function',NULL,9394,NULL,'Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. Isoform 2 anti-apoptotic activity is mediated by inhibition of the GZMA-activated DNase, NME1. In the course of cytotoxic T-lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition. Isoform 1 and isoform 2 are potent inhibitors of protein phosphatase 2A. Isoform 1 and isoform 2 inhibit EP300/CREBBP and PCAF-mediated acetylation of histones (HAT) and nucleosomes, most probably by masking the accessibility of lysines of histones to the acetylases. The predominant target for inhibition is histone H4. HAT inhibition leads to silencing of HAT-dependent transcription and prevents active demethylation of DNA. Both isoforms stimulate DNA replication of the adenovirus genome complexed with viral core proteins; however, isoform 2 specific activity is higher.',NULL,NULL,NULL,NULL,NULL),(7757,'UniProt Function',NULL,9395,NULL,'May function in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(7758,'UniProt Function',NULL,9396,NULL,'Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Acts as a negative regulator of B-cell antigen receptor signaling. Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Acts as a negative regulator of myeloid cell proliferation/survival and chemotaxis, mast cell degranulation, immune cells homeostasis, integrin alpha-IIb/beta-3 signaling in platelets and JNK signaling in B-cells. Regulates proliferation of osteoclast precursors, macrophage programming, phagocytosis and activation and is required for endotoxin tolerance. Involved in the control of cell-cell junctions, CD32a signaling in neutrophils and modulation of EGF-induced phospholipase C activity. Key regulator of neutrophil migration, by governing the formation of the leading edge and polarization required for chemotaxis. Modulates FCGR3/CD16-mediated cytotoxicity in NK cells. Mediates the activin/TGF-beta-induced apoptosis through its Smad-dependent expression. May also hydrolyze PtdIns(1,3,4,5)P4, and could thus affect the levels of the higher inositol polyphosphates like InsP6.',NULL,NULL,NULL,NULL,NULL),(7759,'UniProt Function',NULL,9397,NULL,'Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids. Prefers glycoproteins to glycolipids (By similarity).',NULL,NULL,NULL,NULL,NULL),(7760,'UniProt Function',NULL,9398,NULL,'Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction.',NULL,NULL,NULL,NULL,NULL),(7761,'UniProt Function',NULL,9399,NULL,'Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity.',NULL,NULL,NULL,NULL,NULL),(7762,'UniProt Function',NULL,9400,NULL,'Probable serine/threonine-protein kinase.',NULL,NULL,NULL,NULL,NULL),(7763,'UniProt Function',NULL,9402,NULL,'GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting them to the putatively inactive GDP-bound state (PubMed:9346962). Affects cell cycle progression (By similarity).',NULL,NULL,NULL,NULL,NULL),(7764,'UniProt Function',NULL,9403,NULL,'May be involved in eye development.',NULL,NULL,NULL,NULL,NULL),(7765,'UniProt Function',NULL,9404,NULL,'Positively regulates T-cell receptor signaling by enhancing the MAP kinase pathway. Required for optimal conjugation between T-cells and antigen-presenting cells by promoting the clustering of integrin ITGAL on the surface of T-cells. May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells.',NULL,NULL,NULL,NULL,NULL),(7766,'UniProt Function',NULL,9405,NULL,'Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells. Involved in positive selection of T-cells.',NULL,NULL,NULL,NULL,NULL),(7767,'UniProt Function',NULL,9406,NULL,'May be involved in B-cell and macrophage adhesion processes. In B-cells, may act by coupling the B-cell receptor (BCR) to integrin activation. May play a role in src signaling pathway.',NULL,NULL,NULL,NULL,NULL),(7768,'UniProt Function',NULL,9407,NULL,'Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Triggers cytolytic activity only in natural killer cells (NK) expressing high surface densities of natural cytotoxicity receptors (PubMed:11489943, PubMed:16920955). Positive signaling in NK cells implicates phosphorylation of VAV1. NK cell activation seems to depend on SH2D1B and not on SH2D1A (PubMed:16920955). In conjunction with SLAMF1 controls the transition between positive selection and the subsequent expansion and differentiation of the thymocytic natural killer T (NKT) cell lineage (By similarity). Promotes T-cell differentiation into a helper T-cell Th17 phenotype leading to increased IL-17 secretion; the costimulatory activity requires SH2D1A (PubMed:22184727, PubMed:16920955). Promotes recruitment of RORC to the IL-17 promoter (PubMed:22989874). In conjunction with SLAMF1 and CD84/SLAMF5 may be a negative regulator of the humoral immune response. In the absence of SH2D1A/SAP can transmit negative signals to CD4(+) T-cells and NKT cells. Negatively regulates germinal center formation by inhibiting T-cell:B-cell adhesion; the function probably implicates increased association with PTPN6/SHP-1 via ITSMs in absence of SH2D1A/SAP. However, reported to be involved in maintaining B-cell tolerance in germinal centers and in preventing autoimmunity (By similarity).',NULL,NULL,NULL,NULL,NULL),(7769,'UniProt Function',NULL,9408,NULL,'NAD-dependent protein deacetylase that specifically mediates deacetylation of histone H3 at \'Lys-18\' (H3K18Ac). In contrast to other histone deacetylases, displays selectivity for a single histone mark, H3K18Ac, directly linked to control of gene expression. H3K18Ac is mainly present around the transcription start site of genes and has been linked to activation of nuclear hormone receptors. SIRT7 thereby acts as a transcription repressor. Moreover, H3K18 hypoacetylation has been reported as a marker of malignancy in various cancers and seems to maintain the transformed phenotype of cancer cells. These data suggest that SIRT7 may play a key role in oncogenic transformation by suppresses expression of tumor suppressor genes by locus-specific deacetylation of H3K18Ac at promoter regions. Also required to restore the transcription of ribosomal RNA (rRNA) at the exit from mitosis: promotes the association of RNA polymerase I with the rDNA promoter region and coding region. Stimulates transcription activity of the RNA polymerase I complex. May also deacetylate p53/TP53 and promotes cell survival, however such data need additional confirmation.',NULL,NULL,NULL,NULL,NULL),(7770,'UniProt Function',NULL,9409,NULL,'The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS4 is important for GINS complex assembly. GINS complex seems to bind preferentially to single-stranded DNA.',NULL,NULL,NULL,NULL,NULL),(7771,'UniProt Function',NULL,9410,NULL,'May have a role in hematopoietic cell differentiation.',NULL,NULL,NULL,NULL,NULL),(7772,'UniProt Function',NULL,9411,NULL,'Helicase; has ATPase activity. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C).',NULL,NULL,NULL,NULL,NULL),(7773,'UniProt Function',NULL,9412,NULL,'Acid-stable proteinase inhibitor with strong affinities for trypsin, chymotrypsin, elastase, and cathepsin G (PubMed:3533531, PubMed:3462719, PubMed:2039600, PubMed:2110563, PubMed:10702419, PubMed:24121345). Modulates the inflammatory and immune responses after bacterial infection, and after infection by the intracellular parasite L.major. Down-regulates responses to bacterial lipopolysaccharide (LPS) (By similarity). Plays a role in regulating the activation of NF-kappa-B and inflammatory responses (PubMed:10702419, PubMed:24352879). Has antimicrobial activity against mycobacteria, but not against salmonella. Contributes to normal resistance against infection by M.tuberculosis. Required for normal resistance to infection by L.major. Required for normal wound healing, probably by preventing tissue damage by limiting protease activity (By similarity). Together with ELANE, required for normal differentiation and proliferation of bone marrow myeloid cells (PubMed:24352879).',NULL,NULL,NULL,NULL,NULL),(7774,'UniProt Function',NULL,9413,NULL,'Nuclear GTPase found in germinal center B-cells, where it may inhibit function of the activation-induced cytidine deaminase AICDA (PubMed:19734146). Reduces somatic hypermutation in B-cells which may enhance genome stability (By similarity).',NULL,NULL,NULL,NULL,NULL),(7775,'UniProt Function',NULL,9415,NULL,'Catalytic subunit of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5\'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products.',NULL,NULL,NULL,NULL,NULL),(7776,'UniProt Function',NULL,9416,NULL,'Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.',NULL,NULL,NULL,NULL,NULL),(7777,'UniProt Function',NULL,9417,NULL,'Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED2 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft-like microdomains of the ER. Recognizes GPI anchors structural remodeled in the ER by PGAP1 and MPPE1 (By similarity). In COPI vesicle-mediated retrograde transport involved in the biogenesis of COPI vesicles and vesicle coat recruitment. On Golgi membranes, acts as primary receptor for ARF1-GDP which is involved in COPI-vesicle formation. Increases coatomer-dependent GTPase-activating activity of ARFGAP2. Involved in trafficking of G protein-coupled receptors (GPCRs). Regulates F2LR1, OPRM1 and P2RY4 exocytic trafficking from the Golgi to the plasma membrane thus contributing to receptor resensitization. Involved in trafficking of amyloid beta A4 protein and soluble APP-beta release (independent of modulation of gamma-secretase activity). As part of the presenilin-dependent gamma-secretase complex regulates gamma-cleavages of the amyloid beta A4 protein to yield amyloid-beta 40 (Abeta40). Involved in organization of the Golgi apparatus.',NULL,NULL,NULL,NULL,NULL),(7778,'UniProt Function',NULL,9419,NULL,'Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.',NULL,NULL,NULL,NULL,NULL),(7779,'UniProt Function',NULL,9421,NULL,'DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 \'Lys-9\' trimethylation (H3K9me3) and restoration of silencing.',NULL,NULL,NULL,NULL,NULL),(7780,'UniProt Function',NULL,9422,NULL,'Potential coactivator of the androgen receptor. Mediates STAT3 degradation. May play critical roles in two RAB6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the ER. This protein binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein (TBP).',NULL,NULL,NULL,NULL,NULL),(7781,'UniProt Function',NULL,9423,NULL,'Recognizes base lesions in the genome and initiates base excision DNA repair. Acts as a monofunctional DNA glycosylase specific for uracil (U) residues in DNA with a preference for single-stranded DNA substrates. The activity is greater toward mismatches (U/G) compared to matches (U/A). Excises uracil (U), 5-formyluracil (fU) and uracil derivatives bearing an oxidized group at C5 [5-hydroxyuracil (hoU) and 5-hydroxymethyluracil (hmU)] in ssDNA and dsDNA, but not analogous cytosine derivatives (5-hydroxycytosine and 5-formylcytosine), nor other oxidized bases. The activity is damage-specific and salt-dependent. The substrate preference is the following: ssDNA > dsDNA (G pair) = dsDNA (A pair) at low salt concentration, and dsDNA (G pair) > dsDNA (A pair) > ssDNA at high salt concentration.',NULL,NULL,NULL,NULL,NULL),(7782,'UniProt Function',NULL,9424,NULL,'Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:20562859, PubMed:27193190, PubMed:27103069, PubMed:27559131, PubMed:27617292, PubMed:28195531). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:20562859, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27617292, PubMed:28195531). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131, PubMed:28195531). In addition to its activity in the cytoplasm within the C9orf72-SMCR8 complex, SMCR8 also localizes in the nucleus, where it associates with chromatin and negatively regulates expression of suppresses ULK1 and WIPI2 genes (PubMed:28195531).',NULL,NULL,NULL,NULL,NULL),(7783,'UniProt Function',NULL,9425,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Stimulates nuclear receptor mediated transcription. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(7784,'UniProt Function',NULL,9426,NULL,'Isoform 2 inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Isoform 2 inhibits autoubiquitination and proteasomal degradation of SIAH1, and thereby increases cellular levels of SIAH. Isoform 2 modulates SNCA monoubiquitination by SIAH1.',NULL,NULL,NULL,NULL,NULL),(7785,'UniProt Function',NULL,9427,NULL,'Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box.',NULL,NULL,NULL,NULL,NULL),(7786,'UniProt Function',NULL,9428,NULL,'Involved in induction of the epithelial to mesenchymal transition (EMT), formation and maintenance of embryonic mesoderm, growth arrest, survival and cell migration. Binds to 3 E-boxes of the E-cadherin/CDH1 gene promoter and to the promoters of CLDN7 and KRT8 and, in association with histone demethylase KDM1A which it recruits to the promoters, causes a decrease in dimethylated H3K4 levels and represses transcription. During EMT, involved with LOXL2 in negatively regulating pericentromeric heterochromatin transcription (By similarity). SNAI1 recruits LOXL2 to pericentromeric regions to oxidize histone H3 and repress transcription which leads to release of heterochromatin component CBX5/HP1A, enabling chromatin reorganization and acquisition of mesenchymal traits (By similarity). Associates with EGR1 and SP1 to mediate tetradecanoyl phorbol acetate (TPA)-induced up-regulation of CDKN2B, possibly by binding to the CDKN2B promoter region 5\'-TCACA-3. In addition, may also activate the CDKN2B promoter by itself.',NULL,NULL,NULL,NULL,NULL),(7787,'UniProt Function',NULL,9429,NULL,'May be involved in several stages of intracellular trafficking.',NULL,NULL,NULL,NULL,NULL),(7788,'UniProt Function',NULL,9430,NULL,'May be involved in several stages of intracellular trafficking.',NULL,NULL,NULL,NULL,NULL),(7789,'UniProt Function',NULL,9432,NULL,'Phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes.',NULL,NULL,NULL,NULL,NULL),(7790,'UniProt Function',NULL,9433,NULL,'Component of the U5 small nuclear ribonucleoprotein (snRNP) complex. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs.',NULL,NULL,NULL,NULL,NULL),(7791,'UniProt Function',NULL,9435,NULL,'Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for \'A\' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the \'E\' complex (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077).',NULL,NULL,NULL,NULL,NULL),(7792,'UniProt Function',NULL,9436,NULL,'Plays a role as an alternative splicing regulator. Regulate its own expression at the level of RNA processing. Also regulates the splicing of fibronectin and CD45 genes. May act, at least in part, by interaction with other R/S-containing splicing factors. Represses the splicing of MAPT/Tau exon 10.',NULL,NULL,NULL,NULL,NULL),(7793,'UniProt Function',NULL,9438,NULL,'Putative surfactant protein.',NULL,NULL,NULL,NULL,NULL),(7794,'UniProt Function',NULL,9439,NULL,'Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP3/FRZB appears to be involved in limb skeletogenesis. Antagonist of Wnt8 signaling. Regulates chondrocyte maturation and long bone development.',NULL,NULL,NULL,NULL,NULL),(7795,'UniProt Function',NULL,9440,NULL,'May act to physically and functionally link transcription and pre-mRNA processing.',NULL,NULL,NULL,NULL,NULL),(7796,'UniProt Function',NULL,9441,NULL,'Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(7797,'UniProt Function',NULL,9442,NULL,'May have antimicrobial activity. May also play a role sperm maturation, storage, and protection.',NULL,NULL,NULL,NULL,NULL),(7798,'UniProt Function',NULL,9443,NULL,'Adapter protein which may play a role in the regulation of apoptosis in response to PDGF.',NULL,NULL,NULL,NULL,NULL),(7799,'UniProt Function',NULL,9444,NULL,'Inhibits CBL-SH3KBP1 complex mediated down-regulation of EGFR signaling by sequestration of SH3KBP1. Binds to SH3KBP1 and prevents its interaction with CBL and inhibits translocation of SH3KBP1 to EGFR containing vesicles upon EGF stimulation.',NULL,NULL,NULL,NULL,NULL),(7800,'UniProt Function',NULL,9445,NULL,'Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in cortical neurons.',NULL,NULL,NULL,NULL,NULL),(7801,'UniProt Function',NULL,9446,NULL,'Activates both Ras-dependent and Ras-independent migratory pathways in melanomas. Contributes to the early phases of agrin-induced tyrosine phosphorylation of CHRNB1.',NULL,NULL,NULL,NULL,NULL),(7802,'UniProt Function',NULL,9448,NULL,'Probably inhibits protein phosphatase 1 (PP1) in sperm via binding to catalytic subunit PPP1CC.',NULL,NULL,NULL,NULL,NULL),(7803,'UniProt Function',NULL,9449,NULL,'Putative adhesion molecule that mediates sialic-acid dependent binding to cells. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface.',NULL,NULL,NULL,NULL,NULL),(7804,'UniProt Function',NULL,9450,NULL,'May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation.',NULL,NULL,NULL,NULL,NULL),(7805,'UniProt Function',NULL,9451,NULL,'Controls fundamental aspects of growth and development.',NULL,NULL,NULL,NULL,NULL),(7806,'UniProt Function',NULL,9452,NULL,'Testis-specific spindle-associated factor that plays a role in spermatogenesis. In association with HSPA2, participates in the maintenance of spindle integrity during meiosis in male germ cells.',NULL,NULL,NULL,NULL,NULL),(7807,'UniProt Function',NULL,9454,NULL,'Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid.',NULL,NULL,NULL,NULL,NULL),(7808,'UniProt Function',NULL,9455,NULL,'Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface.',NULL,NULL,NULL,NULL,NULL),(7809,'UniProt Function',NULL,9456,NULL,'Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface.',NULL,NULL,NULL,NULL,NULL),(7810,'UniProt Function',NULL,9457,NULL,'Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (PubMed:26472760, PubMed:27974209). Involved in ER homeostasis in the colonic epithelium (By similarity).',NULL,NULL,NULL,NULL,NULL),(7811,'UniProt Function',NULL,9462,NULL,'Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores.',NULL,NULL,NULL,NULL,NULL),(7812,'UniProt Function',NULL,9463,NULL,'Sperm-specific sodium/hydrogen exchanger involved in intracellular pH regulation of spermatozoa. Required for sperm motility and fertility. Involved in sperm cell hyperactivation, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for the expression and bicarbonate regulation of the soluble adenylyl cyclase (sAC) (By similarity).',NULL,NULL,NULL,NULL,NULL),(7813,'UniProt Function',NULL,9464,NULL,'Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction (By similarity).',NULL,NULL,NULL,NULL,NULL),(7814,'UniProt Function',NULL,9465,NULL,'Mediates electroneutral exchange of protons for Na(+) and K(+) across endomembranes. May contribute to Golgi volume and cation homeostasis.',NULL,NULL,NULL,NULL,NULL),(7815,'UniProt Function',NULL,9466,NULL,'It is involved in synaptogenesis and promotes excitatory synapse differentiation (PubMed:27273464, PubMed:27812321). Enhances neuronal dendrite outgrowth (PubMed:16224024, PubMed:19640509).',NULL,NULL,NULL,NULL,NULL),(7816,'UniProt Function',NULL,9467,NULL,'It is involved in synaptogenesis and promotes excitatory synapse differentiation (PubMed:27273464, PubMed:27812321). Suppresses neurite outgrowth (By similarity).',NULL,NULL,NULL,NULL,NULL),(7817,'UniProt Function',NULL,9468,NULL,'It is involved in synaptogenesis and promotes synapse differentiation (PubMed:27812321). Suppresses neurite outgrowth (By similarity).',NULL,NULL,NULL,NULL,NULL),(7818,'UniProt Function',NULL,9469,NULL,'Suppresses neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(7819,'UniProt Function',NULL,9470,NULL,'Has transcriptional repressor activity. Overexpression inhibits the transcriptional activities of AP-1, p53/TP53 and CDKN1A.',NULL,NULL,NULL,NULL,NULL),(7820,'UniProt Function',NULL,9471,NULL,'Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Required for the maintenance of the Golgi apparatus; involved in protein exchange between Golgi stacks during assembly. Probably not required for COPI-vesicle-mediated retrograde transport.',NULL,NULL,NULL,NULL,NULL),(7821,'UniProt Function',NULL,9473,NULL,'5\' to 3\' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5\'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5\'-GGGCT-3\' motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV.',NULL,NULL,NULL,NULL,NULL),(7822,'UniProt Function',NULL,9474,NULL,'Regulator of red blood cell formation.',NULL,NULL,NULL,NULL,NULL),(7823,'UniProt Function',NULL,9475,NULL,'Somatostatin inhibits the release of somatotropin.',NULL,NULL,NULL,NULL,NULL),(7824,'UniProt Function',NULL,9476,NULL,'Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and in GABAergic synaptic connectivity (By similarity). During Listeria monocytogenes infection, not required for the bacterial entry process, but restricts its efficacy.',NULL,NULL,NULL,NULL,NULL),(7825,'UniProt Function',NULL,9477,NULL,'Filament-forming cytoskeletal GTPase (By similarity). Involved in spermatogenesis. Involved in the morphogenesis of sperm heads and the elongation of sperm tails probably implicating the association with alpha- and beta-tubulins (PubMed:24213608). Forms a filamentous structure with SEPT7, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). May play a role in cytokinesis (Potential).',NULL,NULL,NULL,NULL,NULL),(7826,'UniProt Function',NULL,9478,NULL,'Filament-forming cytoskeletal GTPase. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). Required for normal organization of the actin cytoskeleton. Plays a role in the biogenesis of polarized columnar-shaped epithelium by maintaining polyglutamylated microtubules, thus facilitating efficient vesicle transport, and by impeding MAP4 binding to tubulin. Required for the progression through mitosis. Forms a scaffold at the midplane of the mitotic splindle required to maintain CENPE localization at kinetochores and consequently chromosome congression. During anaphase, may be required for chromosome segregation and spindle elongation. Plays a role in ciliogenesis and collective cell movements. In cilia, required for the integrity of the diffusion barrier at the base of the primary cilium that prevents diffusion of transmembrane proteins between the cilia and plasma membranes: probably acts by regulating the assembly of the tectonic-like complex (also named B9 complex) by localizing TMEM231 protein. May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.',NULL,NULL,NULL,NULL,NULL),(7827,'UniProt Function',NULL,9479,NULL,'Cell surface glycoprotein serine protease that participates in extracellular matrix degradation and involved in many cellular processes including tissue remodeling, fibrosis, wound healing, inflammation and tumor growth. Both plasma membrane and soluble forms exhibit post-proline cleaving endopeptidase activity, with a marked preference for Ala/Ser-Gly-Pro-Ser/Asn/Ala consensus sequences, on substrate such as alpha-2-antiplasmin SERPINF2 and SPRY2 (PubMed:14751930, PubMed:16223769, PubMed:16480718, PubMed:16410248, PubMed:17381073, PubMed:18095711, PubMed:21288888, PubMed:24371721). Degrade also gelatin, heat-denatured type I collagen, but not native collagen type I and IV, vibronectin, tenascin, laminin, fibronectin, fibrin or casein (PubMed:9065413, PubMed:2172980, PubMed:7923219, PubMed:10347120, PubMed:10455171, PubMed:12376466, PubMed:16223769, PubMed:16651416, PubMed:18095711). Have also dipeptidyl peptidase activity, exhibiting the ability to hydrolyze the prolyl bond two residues from the N-terminus of synthetic dipeptide substrates provided that the penultimate residue is proline, with a preference for Ala-Pro, Ile-Pro, Gly-Pro, Arg-Pro and Pro-Pro (PubMed:10347120, PubMed:10593948, PubMed:16175601, PubMed:16223769, PubMed:16651416, PubMed:16410248, PubMed:17381073, PubMed:21314817, PubMed:24371721, PubMed:24717288). Natural neuropeptide hormones for dipeptidyl peptidase are the neuropeptide Y (NPY), peptide YY (PYY), substance P (TAC1) and brain natriuretic peptide 32 (NPPB) (PubMed:21314817). The plasma membrane form, in association with either DPP4, PLAUR or integrins, is involved in the pericellular proteolysis of the extracellular matrix (ECM), and hence promotes cell adhesion, migration and invasion through the ECM. Plays a role in tissue remodeling during development and wound healing. Participates in the cell invasiveness towards the ECM in malignant melanoma cancers. Enhances tumor growth progression by increasing angiogenesis, collagen fiber degradation and apoptosis and by reducing antitumor response of the immune system. Promotes glioma cell invasion through the brain parenchyma by degrading the proteoglycan brevican. Acts as a tumor suppressor in melanocytic cells through regulation of cell proliferation and survival in a serine protease activity-independent manner.',NULL,NULL,NULL,NULL,NULL),(7828,'UniProt Function',NULL,9480,NULL,'Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates.',NULL,NULL,NULL,NULL,NULL),(7829,'UniProt Function',NULL,9481,NULL,'Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate.',NULL,NULL,NULL,NULL,NULL),(7830,'UniProt Function',NULL,9482,NULL,'Protease that catalyzes two essential functions in the SUMO pathway: processing of full-length SUMO3 to its mature form and deconjugation of SUMO2 and SUMO3 from targeted proteins. Has weak proteolytic activity against full-length SUMO1 or SUMO1 conjugates. Required for cell division.',NULL,NULL,NULL,NULL,NULL),(7831,'UniProt Function',NULL,9483,NULL,'Incorporates a polar amino acid serine into membranes and facilitates the synthesis of two serine-derived lipids, phosphatidylserine and sphingolipids.',NULL,NULL,NULL,NULL,NULL),(7832,'UniProt Function',NULL,9484,NULL,'Transports citrate. Potential iron transporter (By similarity).',NULL,NULL,NULL,NULL,NULL),(7833,'UniProt Function',NULL,9485,NULL,'Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif.',NULL,NULL,NULL,NULL,NULL),(7834,'UniProt Function',NULL,9487,NULL,'Might be involved in the transport of a component required for iron utilization into or out of the mitochondria.',NULL,NULL,NULL,NULL,NULL),(7835,'UniProt Function',NULL,9488,NULL,'Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(7836,'UniProt Function',NULL,9489,NULL,'Potential iron transporter.',NULL,NULL,NULL,NULL,NULL),(7837,'UniProt Function',NULL,9491,NULL,'Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(7838,'UniProt Function',NULL,9492,NULL,'Specifically dephosphorylates sphingosine 1-phosphate (S1P), dihydro-S1P, and phyto-S1P. Does not act on ceramide 1-phoshate, lysophosphatidic acid or phosphatidic acid. Regulates the intracellular levels of the bioactive sphingolipid metabolite S1P that regulates diverse biological processes acting both as an extracellular receptor ligand or as an intracellular second messenger (PubMed:12815058, PubMed:11756451). Involved in efficient ceramide synthesis from exogenous sphingoid bases. Converts S1P to sphingosine, which is readily metabolized to ceramide via ceramide synthase. In concert with sphingosine kinase 2 (SphK2), recycles sphingosine into ceramide though a phosphorylation/dephosphorylation cycle. Regulates intracellular ceramide levels, which in turn regulate apoptosis (By similarity). Via S1P levels, modulates resting tone, intracellular Ca(2+) and myogenic vasoconstriction in resistance arteries (PubMed:18583713). Also involved in unfolded protein response (UPR) and ER stress-induced autophagy via regulation of intracellular S1P levels (PubMed:20798685).',NULL,NULL,NULL,NULL,NULL),(7839,'UniProt Function',NULL,9493,NULL,'May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redistribution (By similarity).',NULL,NULL,NULL,NULL,NULL),(7840,'UniProt Function',NULL,9495,NULL,'May be involved in ciliary biogenesis or function.',NULL,NULL,NULL,NULL,NULL),(7841,'UniProt Function',NULL,9496,NULL,'Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity).',NULL,NULL,NULL,NULL,NULL),(7842,'UniProt Function',NULL,9497,NULL,'Putative adhesion molecule. Sialic acid-binding paired receptor which may activate associated receptors.',NULL,NULL,NULL,NULL,NULL),(7843,'UniProt Function',NULL,9498,NULL,'May play a role in cell proliferation by promoting progression into S phase.',NULL,NULL,NULL,NULL,NULL),(7844,'UniProt Function',NULL,9498,NULL,'(Microbial infection) Promotes human herpes simplex virus 1/HHV-1 proliferation.',NULL,NULL,NULL,NULL,NULL),(7845,'UniProt Function',NULL,9501,NULL,'Inhibits CREB activity by phosphorylating and inhibiting activity of TORCs, the CREB-specific coactivators, like CRTC2/TORC2 and CRTC3/TORC3 in response to cAMP signaling.',NULL,NULL,NULL,NULL,NULL),(7846,'UniProt Function',NULL,9503,NULL,'May be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b and GT3 from GD1a, GT1b, GM1b and GD3 respectively.',NULL,NULL,NULL,NULL,NULL),(7847,'UniProt Function',NULL,9504,NULL,'Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid.',NULL,NULL,NULL,NULL,NULL),(7848,'UniProt Function',NULL,9506,NULL,'NAD-dependent protein deacetylase that links transcriptional regulation directly to intracellular energetics and participates in the coordination of several separated cellular functions such as cell cycle, response to DNA damage, metobolism, apoptosis and autophagy (PubMed:11672523, PubMed:12006491, PubMed:14976264, PubMed:14980222, PubMed:15126506, PubMed:15152190, PubMed:15205477, PubMed:15469825, PubMed:15692560, PubMed:16079181, PubMed:16166628, PubMed:16892051, PubMed:16998810, PubMed:17283066, PubMed:17290224, PubMed:17334224, PubMed:17505061, PubMed:17612497, PubMed:17620057, PubMed:17936707, PubMed:18203716, PubMed:18296641, PubMed:18662546, PubMed:18687677, PubMed:19188449, PubMed:19220062, PubMed:19364925, PubMed:19690166, PubMed:19934257, PubMed:20097625, PubMed:20100829, PubMed:20203304, PubMed:20375098, PubMed:20620956, PubMed:20670893, PubMed:20817729, PubMed:20955178, PubMed:21149730, PubMed:21245319, PubMed:21471201, PubMed:21504832, PubMed:21555002, PubMed:21698133, PubMed:21701047, PubMed:21775285, PubMed:21807113, PubMed:21841822, PubMed:21890893, PubMed:21947282, PubMed:22274616, PubMed:24415752, PubMed:24824780). Can modulate chromatin function through deacetylation of histones and can promote alterations in the methylation of histones and DNA, leading to transcriptional repression (PubMed:15469825). Deacetylates a broad range of transcription factors and coregulators, thereby regulating target gene expression positively and negatively (PubMed:15152190, PubMed:14980222, PubMed:14976264). Serves as a sensor of the cytosolic ratio of NAD(+)/NADH which is altered by glucose deprivation and metabolic changes associated with caloric restriction (PubMed:15205477). Is essential in skeletal muscle cell differentiation and in response to low nutrients mediates the inhibitory effect on skeletal myoblast differentiation which also involves 5\'-AMP-activated protein kinase (AMPK) and nicotinamide phosphoribosyltransferase (NAMPT) (By similarity). Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes (PubMed:18485871). The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at \'Lys-9\' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus (PubMed:18485871, PubMed:21504832). Deacetylates \'Lys-266\' of SUV39H1, leading to its activation (PubMed:21504832). Inhibits skeletal muscle differentiation by deacetylating PCAF and MYOD1 (PubMed:19188449). Deacetylates H2A and \'Lys-26\' of HIST1H1E (PubMed:15469825). Deacetylates \'Lys-16\' of histone H4 (in vitro). Involved in NR0B2/SHP corepression function through chromatin remodeling: Recruited to LRH1 target gene promoters by NR0B2/SHP thereby stimulating histone H3 and H4 deacetylation leading to transcriptional repression (PubMed:20375098). Proposed to contribute to genomic integrity via positive regulation of telomere length; however, reports on localization to pericentromeric heterochromatin are conflicting (By similarity). Proposed to play a role in constitutive heterochromatin (CH) formation and/or maintenance through regulation of the available pool of nuclear SUV39H1 (PubMed:15469825, PubMed:18004385). Upon oxidative/metabolic stress decreases SUV39H1 degradation by inhibiting SUV39H1 polyubiquitination by MDM2 (PubMed:18004385, PubMed:21504832). This increase in SUV39H1 levels enhances SUV39H1 turnover in CH, which in turn seems to accelerate renewal of the heterochromatin which correlates with greater genomic integrity during stress response (PubMed:18004385, PubMed:21504832). Deacetylates \'Lys-382\' of p53/TP53 and impairs its ability to induce transcription-dependent proapoptotic program and modulate cell senescence (PubMed:11672523, PubMed:12006491). Deacetylates TAF1B and thereby represses rDNA transcription by the RNA polymerase I (By similarity). Deacetylates MYC, promotes the association of MYC with MAX and decreases MYC stability leading to compromised transformational capability (PubMed:19364925, PubMed:21807113). Deacetylates FOXO3 in response to oxidative stress thereby increasing its ability to induce cell cycle arrest and resistance to oxidative stress but inhibiting FOXO3-mediated induction of apoptosis transcriptional activity; also leading to FOXO3 ubiquitination and protesomal degradation (PubMed:14980222, PubMed:14976264, PubMed:21841822). Appears to have a similar effect on MLLT7/FOXO4 in regulation of transcriptional activity and apoptosis (PubMed:15126506). Deacetylates DNMT1; thereby impairs DNMT1 methyltransferase-independent transcription repressor activity, modulates DNMT1 cell cycle regulatory function and DNMT1-mediated gene silencing (PubMed:21947282). Deacetylates RELA/NF-kappa-B p65 thereby inhibiting its transactivating potential and augments apoptosis in response to TNF-alpha (PubMed:15152190). Deacetylates HIF1A, KAT5/TIP60, RB1 and HIC1 (PubMed:17620057, PubMed:17283066, PubMed:20100829, PubMed:20620956). Deacetylates FOXO1 resulting in its nuclear retention and enhancement of its transcriptional activity leading to increased gluconeogenesis in liver (PubMed:15692560). Inhibits E2F1 transcriptional activity and apoptotic function, possibly by deacetylation (PubMed:16892051). Involved in HES1- and HEY2-mediated transcriptional repression (PubMed:12535671). In cooperation with MYCN seems to be involved in transcriptional repression of DUSP6/MAPK3 leading to MYCN stabilization by phosphorylation at \'Ser-62\' (PubMed:21698133). Deacetylates MEF2D (PubMed:16166628). Required for antagonist-mediated transcription suppression of AR-dependent genes which may be linked to local deacetylation of histone H3 (PubMed:17505061). Represses HNF1A-mediated transcription (By similarity). Required for the repression of ESRRG by CREBZF (PubMed:19690166). Deacetylates NR1H3 and NR1H2 and deacetylation of NR1H3 at \'Lys-434\' positively regulates transcription of NR1H3:RXR target genes, promotes NR1H3 proteosomal degradation and results in cholesterol efflux; a promoter clearing mechanism after reach round of transcription is proposed (PubMed:17936707). Involved in lipid metabolism (PubMed:20817729). Implicated in regulation of adipogenesis and fat mobilization in white adipocytes by repression of PPARG which probably involves association with NCOR1 and SMRT/NCOR2 (By similarity). Deacetylates p300/EP300 and PRMT1 (By similarity). Deacetylates ACSS2 leading to its activation, and HMGCS1 deacetylation (PubMed:21701047). Involved in liver and muscle metabolism. Through deacteylation and activation of PPARGC1A is required to activate fatty acid oxidation in skeletel muscle under low-glucose conditions and is involved in glucose homeostasis. Involved in regulation of PPARA and fatty acid beta-oxidation in liver. Involved in positive regulation of insulin secretion in pancreatic beta cells in response to glucose; the function seems to imply transcriptional repression of UCP2. Proposed to deacetylate IRS2 thereby facilitating its insulin-induced tyrosine phosphorylation. Deacetylates SREBF1 isoform SREBP-1C thereby decreasing its stability and transactivation in lipogenic gene expression (PubMed:17290224, PubMed:20817729). Involved in DNA damage response by repressing genes which are involved in DNA repair, such as XPC and TP73, deacetylating XRCC6/Ku70, and faciliting recruitment of additional factors to sites of damaged DNA, such as SIRT1-deacetylated NBN can recruit ATM to initiate DNA repair and SIRT1-deacetylated XPA interacts with RPA2 (PubMed:15205477, PubMed:17334224, PubMed:16998810, PubMed:17612497, PubMed:20670893, PubMed:21149730). Also involved in DNA repair of DNA double-strand breaks by homologous recombination and specifically single-strand annealing independently of XRCC6/Ku70 and NBN (PubMed:15205477, PubMed:17334224, PubMed:20097625). Transcriptional suppression of XPC probably involves an E2F4:RBL2 suppressor complex and protein kinase B (AKT) signaling. Transcriptional suppression of TP73 probably involves E2F4 and PCAF. Deacetylates WRN thereby regulating its helicase and exonuclease activities and regulates WRN nuclear translocation in response to DNA damage (PubMed:18203716). Deacetylates APEX1 at \'Lys-6\' and \'Lys-7\' and stimulates cellular AP endonuclease activity by promoting the association of APEX1 to XRCC1 (PubMed:19934257). Increases p53/TP53-mediated transcription-independent apoptosis by blocking nuclear translocation of cytoplasmic p53/TP53 and probably redirecting it to mitochondria. Deacetylates XRCC6/Ku70 at \'Lys-539\' and \'Lys-542\' causing it to sequester BAX away from mitochondria thereby inhibiting stress-induced apoptosis. Is involved in autophagy, presumably by deacetylating ATG5, ATG7 and MAP1LC3B/ATG8 (PubMed:18296641). Deacetylates AKT1 which leads to enhanced binding of AKT1 and PDK1 to PIP3 and promotes their activation (PubMed:21775285). Proposed to play role in regulation of STK11/LBK1-dependent AMPK signaling pathways implicated in cellular senescence which seems to involve the regulation of the acetylation status of STK11/LBK1. Can deacetylate STK11/LBK1 and thereby increase its activity, cytoplasmic localization and association with STRAD; however, the relevance of such activity in normal cells is unclear (PubMed:18687677, PubMed:20203304). In endothelial cells is shown to inhibit STK11/LBK1 activity and to promote its degradation. Deacetylates SMAD7 at \'Lys-64\' and \'Lys-70\' thereby promoting its degradation. Deacetylates CIITA and augments its MHC class II transactivation and contributes to its stability (PubMed:21890893). Deacteylates MECOM/EVI1 (PubMed:21555002). Deacetylates PML at \'Lys-487\' and this deacetylation promotes PML control of PER2 nuclear localization (PubMed:22274616). During the neurogenic transition, repress selective NOTCH1-target genes through histone deacetylation in a BCL6-dependent manner and leading to neuronal differentiation. Regulates the circadian expression of several core clock genes, including ARNTL/BMAL1, RORC, PER2 and CRY1 and plays a critical role in maintaining a controlled rhythmicity in histone acetylation, thereby contributing to circadian chromatin remodeling (PubMed:18662546). Deacetylates ARNTL/BMAL1 and histones at the circadian gene promoters in order to facilitate repression by inhibitory components of the circadian oscillator (By similarity). Deacetylates PER2, facilitating its ubiquitination and degradation by the proteosome (By similarity). Protects cardiomyocytes against palmitate-induced apoptosis (By similarity). Deacetylates XBP1 isoform 2; deacetylation decreases protein stability of XBP1 isoform 2 and inhibits its transcriptional activity (PubMed:20955178). Involved in the CCAR2-mediated regulation of PCK1 and NR1D1 (PubMed:24415752). Deacetylates CTNB1 at \'Lys-49\' (PubMed:24824780). In POMC (pro-opiomelanocortin) neurons, required for leptin-induced activation of PI3K signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(7849,'UniProt Function',NULL,9506,NULL,'Isoform 2: Deacetylates \'Lys-382\' of p53/TP53, however with lower activity than isoform 1. In combination, the two isoforms exert an additive effect. Isoform 2 regulates p53/TP53 expression and cellular stress response and is in turn repressed by p53/TP53 presenting a SIRT1 isoform-dependent auto-regulatory loop.',NULL,NULL,NULL,NULL,NULL),(7850,'UniProt Function',NULL,9506,NULL,'(Microbial infection) In case of HIV-1 infection, interacts with and deacetylates the viral Tat protein. The viral Tat protein inhibits SIRT1 deacetylation activity toward RELA/NF-kappa-B p65, thereby potentiates its transcriptional activity and SIRT1 is proposed to contribute to T-cell hyperactivation during infection.',NULL,NULL,NULL,NULL,NULL),(7851,'UniProt Function',NULL,9506,NULL,'SirtT1 75 kDa fragment: Catalytically inactive 75SirT1 may be involved in regulation of apoptosis. May be involved in protecting chondrocytes from apoptotic death by associating with cytochrome C and interfering with apoptosome assembly.',NULL,NULL,NULL,NULL,NULL),(7852,'UniProt Function',NULL,9507,NULL,'Acts as NAD-dependent protein lipoamidase, ADP-ribosyl transferase and deacetylase. Catalyzes more efficiently removal of lipoyl- and biotinyl- than acetyl-lysine modifications. Inhibits the pyruvate dehydrogenase complex (PDH) activity via the enzymatic hydrolysis of the lipoamide cofactor from the E2 component, DLAT, in a phosphorylation-independent manner (PubMed:25525879). Catalyzes the transfer of ADP-ribosyl groups onto target proteins, including mitochondrial GLUD1, inhibiting GLUD1 enzyme activity. Acts as a negative regulator of mitochondrial glutamine metabolism by mediating mono ADP-ribosylation of GLUD1: expressed in response to DNA damage and negatively regulates anaplerosis by inhibiting GLUD1, leading to block metabolism of glutamine into tricarboxylic acid cycle and promoting cell cycle arrest (PubMed:16959573, PubMed:17715127). In response to mTORC1 signal, SIRT4 expression is repressed, promoting anaplerosis and cell proliferation. Acts as a tumor suppressor (PubMed:23562301, PubMed:23663782). Also acts as a NAD-dependent protein deacetylase: mediates deacetylation of \'Lys-471\' of MLYCD, inhibiting its activity, thereby acting as a regulator of lipid homeostasis (By similarity). Does not seem to deacetylate PC (PubMed:23438705). Controls fatty acid oxidation by inhibiting PPARA transcriptional activation. Impairs SIRT1:PPARA interaction probably through the regulation of NAD(+) levels (PubMed:24043310). Down-regulates insulin secretion.',NULL,NULL,NULL,NULL,NULL),(7853,'UniProt Function',NULL,9509,NULL,'Acts as a transcriptional corepressor of LBX1 (By similarity). Inhibits BMP signaling.',NULL,NULL,NULL,NULL,NULL),(7854,'UniProt Function',NULL,9510,NULL,'RNA-binding protein involved in the histone pre-mRNA processing. Binds the stem-loop structure of replication-dependent histone pre-mRNAs and contributes to efficient 3\'-end processing by stabilizing the complex between histone pre-mRNA and U7 small nuclear ribonucleoprotein (snRNP), via the histone downstream element (HDE). Plays an important role in targeting mature histone mRNA from the nucleus to the cytoplasm and to the translation machinery. Stabilizes mature histone mRNA and could be involved in cell-cycle regulation of histone gene expression. Involved in the mechanism by which growing oocytes accumulate histone proteins that support early embryogenesis. Binds to the 5\' side of the stem-loop structure of histone pre-mRNAs.',NULL,NULL,NULL,NULL,NULL),(7855,'UniProt Function',NULL,9511,NULL,'Protein-lysine N-methyltransferase. Monomethylates \'Lys-310\' of the RELA subunit of NF-kappa-B complex, leading to down-regulate NF-kappa-B transcription factor activity (PubMed:21131967). Monomethylates \'Lys-8\' of H2AZ (H2AZK8me1) (PubMed:23324626). Required for the maintenance of embryonic stem cell self-renewal (By similarity).',NULL,NULL,NULL,NULL,NULL),(7856,'UniProt Function',NULL,9512,NULL,'May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex.',NULL,NULL,NULL,NULL,NULL),(7857,'UniProt Function',NULL,9513,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (ELL2, MYB, POU2AF1, PML and RBBP8), a cell surface receptor (DCC), the cell-surface receptor-type tyrosine kinase FLT3, the cytoplasmic signal transduction molecules (KLF10/TIEG1 and NUMB), an antiapoptotic protein (BAG1), a microtubule motor protein (KIF22), a protein involved in synaptic vesicle function in neurons (SYP), a structural protein (CTNNB1) and SNCAIP. Confers constitutive instability to HIPK2 through proteasomal degradation. It is thereby involved in many cellular processes such as apoptosis, tumor suppression, cell cycle, axon guidance, transcription regulation, spermatogenesis and TNF-alpha signaling. Has some overlapping function with SIAH2. Induces apoptosis in cooperation with PEG3. Upon nitric oxid (NO) generation that follows apoptotic stimulation, interacts with S-nitrosylated GAPDH, mediating the translocation of GAPDH to the nucleus. GAPDH acts as a stabilizer of SIAH1, facilitating the degradation of nuclear proteins.',NULL,NULL,NULL,NULL,NULL),(7858,'UniProt Function',NULL,9514,NULL,'Controls cell shape changes in the neuroepithelium during neural tube closure. Induces apical constriction in epithelial cells by promoting the apical accumulation of F-actin and myosin II, and probably by bundling stress fibers. Induces apicobasal cell elongation by redistributing gamma-tubulin and directing the assembly of robust apicobasal microtubule arrays (By similarity).',NULL,NULL,NULL,NULL,NULL),(7859,'UniProt Function',NULL,9515,NULL,'Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition.',NULL,NULL,NULL,NULL,NULL),(7860,'UniProt Function',NULL,9518,NULL,'May play a role in signaling pathways governing cellular proliferation, cell growth and differentiation. May be a component of a novel signaling pathway downstream of Shc. Acts as a positive regulator of FGF signaling in neural progenitor cells.',NULL,NULL,NULL,NULL,NULL),(7861,'UniProt Function',NULL,9519,NULL,'Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis.',NULL,NULL,NULL,NULL,NULL),(7862,'UniProt Function',NULL,9520,NULL,'Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the \'Ser-259\' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes.',NULL,NULL,NULL,NULL,NULL),(7863,'UniProt Function',NULL,9521,NULL,'Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity).',NULL,NULL,NULL,NULL,NULL),(7864,'UniProt Function',NULL,9522,NULL,'Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor, through an association with CBL and endophilins. The association with CBL, and thus the receptor internalization, may inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activity by interaction with its regulatory subunit (By similarity). May be involved in regulation of cell adhesion; promotes the interaction between TTK2B and PDCD6IP. May be involved in the regulation of cellular stress response via the MAPK pathways through its interaction with MAP3K4. Is involved in modulation of tumor necrosis factor mediated apoptosis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration.',NULL,NULL,NULL,NULL,NULL),(7865,'UniProt Function',NULL,9523,NULL,'Could be a T-cell-specific adapter protein involved in the control of T-cell activation. May play a role in the CD4-p56-LCK-dependent signal transduction pathway. Could also play an important role in normal and pathological angiogenesis. Could be an adapter protein that facilitates and regulates interaction of KDR with effector proteins important to endothelial cell survival and proliferation.',NULL,NULL,NULL,NULL,NULL),(7866,'UniProt Function',NULL,9524,NULL,'Mediates the translocation of RNA and DNA across the lysosomal membrane during RNA and DNA autophagy (RDA), a process in which RNA or DNA is directly imported into lysosomes in an ATP-dependent manner, and degraded (PubMed:27046251, PubMed:27846365). Involved in the uptake of single-stranded oligonucleotides by living cells, a process called gymnosis (PubMed:28277980). Involved in the uptake of single-stranded oligonucleotides by living cells, a process called gymnosis. In vitro, mediates the uptake of linear DNA more efficiently than that of circular DNA, but exhibits similar uptake efficacy toward RNA and DNA. Binds long double-stranded RNA (dsRNA) (500 - 700 base pairs), but not dsRNA shorter than 100 bp (By similarity).',NULL,NULL,NULL,NULL,NULL),(7867,'UniProt Function',NULL,9525,NULL,'Inhibits estrogen-induced cell proliferation by competing with PLCG for binding to ESR1, blocking the effect of estrogen on PLCG and repressing estrogen-induced proliferation. May play a role in T-cell development and function.',NULL,NULL,NULL,NULL,NULL),(7868,'UniProt Function',NULL,9526,NULL,'Acts as a modulator of macrophage activation through control of glucose metabolism.',NULL,NULL,NULL,NULL,NULL),(7869,'UniProt Function',NULL,9528,NULL,'May transfer sialic acid through alpha-2,8-linkages to the alpha-2,3-linked and alpha-2,6-linked sialic acid of N-linked oligosaccharides of glycoproteins and may be involved in PSA (polysialic acid) expression.',NULL,NULL,NULL,NULL,NULL),(7870,'UniProt Function',NULL,9529,NULL,'Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA.',NULL,NULL,NULL,NULL,NULL),(7871,'UniProt Function',NULL,9530,NULL,'Prefers O-glycans to N-glycans or glycolipids as acceptor substrates. The minimal acceptor substrate is the NeuAc-alpha-2,3(6)-Gal sequence at the non-reducing end of their carbohydrate groups (By similarity).',NULL,NULL,NULL,NULL,NULL),(7872,'UniProt Function',NULL,9533,NULL,'A soluble peptide released by shedding may interact with NGFR and modulate neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(7873,'UniProt Function',NULL,9534,NULL,'Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase (PubMed:19667759). Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:19667759, PubMed:22110139). The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments (PubMed:21402792). Required for kinetochore oscillations and dynamics of microtubule plus-ends during live cell mitosis, possibly by forming a link between spindle microtubule plus-ends and mitotic chromosomes to achieve faithful cell division (PubMed:23035123). May be involved in UV-induced apoptosis via its interaction with PRPF19; however, these results need additional evidences (PubMed:24718257).',NULL,NULL,NULL,NULL,NULL),(7874,'UniProt Function',NULL,9535,NULL,'May have regulatory role in cell division or differentiation in response to extracellular signals.',NULL,NULL,NULL,NULL,NULL),(7875,'UniProt Function',NULL,9536,NULL,'May play a role in B-lineage commitment and/or modulation of signaling through the B-cell receptor.',NULL,NULL,NULL,NULL,NULL),(7876,'UniProt Function',NULL,9537,NULL,'Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction.',NULL,NULL,NULL,NULL,NULL),(7877,'UniProt Function',NULL,9538,NULL,'May act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell.',NULL,NULL,NULL,NULL,NULL),(7878,'UniProt Function',NULL,9539,NULL,'May act as molecular guidance cue in cellular migration, and function may be mediated by interaction with roundabout homolog receptors.',NULL,NULL,NULL,NULL,NULL),(7879,'UniProt Function',NULL,9540,NULL,'Adapter protein, which negatively regulates T-cell receptor (TCR) signaling. Inhibits T-cell antigen-receptor induced activation of nuclear factor of activated T-cells. Involved in the negative regulation of positive selection and mitosis of T-cells. May act by linking signaling proteins such as ZAP70 with CBL, leading to a CBL dependent degradation of signaling proteins.',NULL,NULL,NULL,NULL,NULL),(7880,'UniProt Function',NULL,9541,NULL,'May play a role during myoblast fusion.',NULL,NULL,NULL,NULL,NULL),(7881,'UniProt Function',NULL,9542,NULL,'Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5\'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and promotes the cleavage of 3\'-flap and replication fork-like structures. SLX4 is required for recovery from alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks.',NULL,NULL,NULL,NULL,NULL),(7882,'UniProt Function',NULL,9543,NULL,'Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077).',NULL,NULL,NULL,NULL,NULL),(7883,'UniProt Function',NULL,9544,NULL,'Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone pre-mRNA 3\'-end processing (By similarity).',NULL,NULL,NULL,NULL,NULL),(7884,'UniProt Function',NULL,9545,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:8804307, PubMed:29374058). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Has a strong influence on vitamin D-mediated transcriptional activity from an enhancer vitamin D receptor element (VDRE). May be a link between mammalian SWI-SNF-like chromatin remodeling complexes and the vitamin D receptor (VDR) heterodimer (PubMed:14698202). Mediates critical interactions between nuclear receptors and the BRG1/SMARCA4 chromatin-remodeling complex for transactivation (PubMed:12917342).',NULL,NULL,NULL,NULL,NULL),(7885,'UniProt Function',NULL,9547,NULL,'May play a role in regulated exocytosis. May indirectly regulate the activity of the plasma membrane dopamine transporter SLC6A3 and thereby regulate dopamine transport back from the synaptic cleft into the presynaptic terminal.',NULL,NULL,NULL,NULL,NULL),(7886,'UniProt Function',NULL,9549,NULL,'Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP1 decreases intracellular beta-catenin levels (By similarity). Has antiproliferative effects on vascular cells, in vitro and in vivo, and can induce, in vivo, an angiogenic response. In vascular cell cycle, delays the G1 phase and entry into the S phase (By similarity). In kidney development, inhibits tubule formation and bud growth in metanephroi (By similarity). Inhibits WNT1/WNT4-mediated TCF-dependent transcription.',NULL,NULL,NULL,NULL,NULL),(7887,'UniProt Function',NULL,9550,NULL,'Putative surfactant protein. May be involved in wound healing and in the reduction of the surface tension at the ocular surface.',NULL,NULL,NULL,NULL,NULL),(7888,'UniProt Function',NULL,9551,NULL,'Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP5 may be involved in determining the polarity of photoreceptor, and perhaps, other cells in the retina.',NULL,NULL,NULL,NULL,NULL),(7889,'UniProt Function',NULL,9552,NULL,'Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role in several other cell functions including proliferation, survival and death. Originally identified for its ability to bind various psychoactive drugs it is involved in learning processes, memory and mood alteration (PubMed:16472803, PubMed:9341151). Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria. Plays a role in protecting cells against oxidative stress-induced cell death via its interaction with RNF112 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7890,'UniProt Function',NULL,9553,NULL,'May be involved in synaptic plasticity regulation through the control of Rac-GTP levels.',NULL,NULL,NULL,NULL,NULL),(7891,'UniProt Function',NULL,9554,NULL,'May play a role in ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(7892,'UniProt Function',NULL,9555,NULL,'Has E3 ubiquitin-protein ligase activity (PubMed:24130170). Acts as an anti-apoptotic regulator of the JNK pathway by ubiquitinating and promoting the degradation of SH3RF1, a scaffold protein that is required for pro-apoptotic JNK activation (PubMed:22128169). Facilitates TNF-alpha-mediated recruitment of adapter proteins TRADD and RIPK1 to TNFRSF1A and regulates PAK4 protein stability via inhibition of its ubiquitin-mediated proteasomal degradation (PubMed:24130170). Inhibits PPP1CA phosphatase activity (PubMed:19945436, PubMed:19389623).',NULL,NULL,NULL,NULL,NULL),(7893,'UniProt Function',NULL,9556,NULL,'Co-chaperone that binds misfolded and hydrophobic patches-containing client proteins in the cytosol. Mediates their targeting to the endoplasmic reticulum but also regulates their sorting to the proteasome when targeting fails (PubMed:28104892). Functions in tail-anchored/type II transmembrane proteins membrane insertion constituting with ASNA1 and the BAG6 complex a targeting module (PubMed:28104892). Functions upstream of the BAG6 complex and ASNA1, binding more rapidly the transmembrane domain of newly synthesized proteins (PubMed:28104892, PubMed:25535373). It is also involved in the regulation of the endoplasmic reticulum-associated misfolded protein catabolic process via its interaction with BAG6: collaborates with the BAG6 complex to maintain hydrophobic substrates in non-ubiquitinated states (PubMed:23129660, PubMed:25179605). Competes with RNF126 for interaction with BAG6, preventing the ubiquitination of client proteins associated with the BAG6 complex (PubMed:27193484). Binds directly to HSC70 and HSP70 and regulates their ATPase activity (PubMed:18759457).',NULL,NULL,NULL,NULL,NULL),(7894,'UniProt Function',NULL,9556,NULL,'(Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection via interaction with DNAJB12, DNAJB14 and HSPA8/Hsc70 (PubMed:24675744).',NULL,NULL,NULL,NULL,NULL),(7895,'UniProt Function',NULL,9558,NULL,'Regulator of long-term synaptic potentiation specifically involved in the formation and retrieval of hippocampus-dependent contextual fear memory. Probably regulates induction and maintenance of long-term potentiation at Schaffer collaterals/CA3-CA1 excitatory synapses by affecting the recruitment of AMPA-type glutamate receptor (AMPAR) at postsynaptic density.',NULL,NULL,NULL,NULL,NULL),(7896,'UniProt Function',NULL,9559,NULL,'Putative adhesion molecule that mediates sialic-acid dependent binding to cells.',NULL,NULL,NULL,NULL,NULL),(7897,'UniProt Function',NULL,9560,NULL,'Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Attenuates the recruitment of receptor-proximal signaling components to the TLR4 receptor, probably through an TIR-TIR domain interaction with TLR4. Through its extracellular domain interferes with the heterodimerization of Il1R1 and IL1RAP.',NULL,NULL,NULL,NULL,NULL),(7898,'UniProt Function',NULL,9561,NULL,'Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D-glucosylceramide).',NULL,NULL,NULL,NULL,NULL),(7899,'UniProt Function',NULL,9562,NULL,'Alpha-2,6-sialyltransferase involved in the synthesis of alpha-series gangliosides. Has activity toward GD1a, GT1b and GM1b. Has no activity toward glycoproteins. Responsible for the biosynthesis of DSGG (disialylgalactosylgloboside) from MSGG (monosialylgalactosylgloboside) in normal and malignant kidney. Participates in the synthesis of disialyl Lewis a (Le(a)).',NULL,NULL,NULL,NULL,NULL),(7900,'UniProt Function',NULL,9564,NULL,'Putative adhesion molecule that mediates sialic-acid dependent binding to red blood cells (PubMed:10856141, PubMed:10625619). Preferentially binds to alpha-2,3-linked sialic acid. Also binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface (PubMed:10625619). Recognizes simultaneously epitopes having a terminal N-acetylneuraminic acid (sialic acid) and an underlying 6-O-sulfated galactose. Preferentially binds to Gal-6-sulfated sialyl-Lewis X glycan epitopes (PubMed:27357658).',NULL,NULL,NULL,NULL,NULL),(7901,'UniProt Function',NULL,9566,NULL,'Immunoglobulin-like cell surface receptor involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes.',NULL,NULL,NULL,NULL,NULL),(7902,'UniProt Function',NULL,9569,NULL,'Probable immunoglobulin-like cell surface receptor. On binding with CD47, mediates cell-cell adhesion. Engagement on T-cells by CD47 on antigen-presenting cells results in enhanced antigen-specific T-cell proliferation and costimulates T-cell activation.',NULL,NULL,NULL,NULL,NULL),(7903,'UniProt Function',NULL,9570,NULL,'Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development. Plays an important role in the development of several organs, including kidney, muscle and inner ear. Depending on context, functions as transcriptional repressor or activator. Lacks an activation domain, and requires interaction with EYA family members for transcription activation. Mediates nuclear translocation of EYA1 and EYA2. Binds the 5\'-TCA[AG][AG]TTNC-3\' motif present in the MEF3 element in the MYOG promoter. Regulates the expression of numerous genes, including MYC, CCND1 and EZR. Acts as activator of the IGFBP5 promoter, probably coactivated by EYA2. Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex. During myogenesis, seems to act together with EYA2 and DACH2 (By similarity). Regulates the expression of CCNA1.',NULL,NULL,NULL,NULL,NULL),(7904,'UniProt Function',NULL,9571,NULL,'Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Promotes the progression of complex assembly after the association of MT-CO1/COX1 with COX4I1 and COX6C. Chaperone-like assembly factor required to stabilize newly synthesized MT-CO1/COX1 and to prevent its premature turnover.',NULL,NULL,NULL,NULL,NULL),(7905,'UniProt Function',NULL,9572,NULL,'Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5\'-GGTGTCAG-3\' motif present in the ARE regulatory element of ATP1A1. Binds a 5\'-TCA[AG][AG]TTNC-3\' motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(7906,'UniProt Function',NULL,9574,NULL,'Na(+)/H(+) antiporter that extrudes Na(+) or Li(+) in exchange for external protons across the membrane (PubMed:18000046, PubMed:28154142, PubMed:22948142, PubMed:18508966). Contributes to the regulation of intracellular pH, sodium homeostasis, and cell volume. Plays an important role for insulin secretion and clathrin-mediated endocytosis in beta-cells (By similarity). Involved in sperm motility and fertility (By similarity). It is controversial whether SLC9B2 plays a role in osteoclast differentiation or not (By similarity).',NULL,NULL,NULL,NULL,NULL),(7907,'UniProt Function',NULL,9575,NULL,'Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. May play a specialized role in the kidney in rectifying cell volume in response to extreme fluctuations of hyperosmolar-stimulated cell shrinkage. Is relatively amiloride and ethylisopropylamiloride (EIPA) insensitive. Can be activated under conditions of hyperosmolar-induced cell shrinkage in a sustained intracellular acidification-dependence manner. Activated by 4,4\'-diisothiocyanostilbene-2,2\'-disulfonic acid (DIDS) in a sustained intracellular acidification-dependence manner. Affects potassium/proton exchange as well as sodium/proton and lithium/proton exchange. In basolateral cell membrane, participates in homeostatic control of intracellular pH, and may play a role in proton extrusion in order to achieve transepithelial HCO3(-) secretion. In apical cell membrane may be involved in mediating sodium absorption. Requires for normal levels of gastric acid secretion, secretory membrane development, parietal cell maturation and/or differentiation and at least secondarily for chief cell differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(7908,'UniProt Function',NULL,9576,NULL,'Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Promotes cytoplasmic microtubule nucleation and elongation. Required for normal structure of the microtubule cytoskeleton during interphase.',NULL,NULL,NULL,NULL,NULL),(7909,'UniProt Function',NULL,9577,NULL,'May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling.',NULL,NULL,NULL,NULL,NULL),(7910,'UniProt Function',NULL,9578,NULL,'Inhibitor of DNA replication that promotes cell death in response to DNA damage (PubMed:22927417, PubMed:26658330, PubMed:29395061). Acts as a guardian of the genome by killing cells with defective replication (PubMed:29395061). Persistently blocks stressed replication forks by opening chromatin across replication initiation sites at stressed replication forks, possibly leading to unwind DNA ahead of the MCM helicase and block fork progression, ultimately leading to cell death (PubMed:29395061). Acts independently of ATR (PubMed:29395061). Also acts as an interferon (IFN)-induced antiviral protein which acts as an inhibitor of retrovirus protein synthesis (PubMed:23000900). Specifically abrogates the production of retroviruses such as human immunodeficiency virus 1 (HIV-1) by acting as a specific inhibitor of the synthesis of retroviruses encoded proteins in a codon-usage-dependent manner (PubMed:23000900). Binds to tRNAs and exploits the unique viral codon bias towards A/T nucleotides (PubMed:23000900). The exact inhibition mechanism is unclear: may either sequester tRNAs, prevent their maturation via post-transcriptional processing or may accelerate their deacylation (PubMed:23000900). Does not inhibit reverse transcription, integration or production and nuclear export of viral RNA (PubMed:23000900).',NULL,NULL,NULL,NULL,NULL),(7911,'UniProt Function',NULL,9579,NULL,'Mediates apoptosis and actin stress fiber dissolution.',NULL,NULL,NULL,NULL,NULL),(7912,'UniProt Function',NULL,9581,NULL,'Suppresses neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(7913,'UniProt Function',NULL,9583,NULL,'Probable ion channel.',NULL,NULL,NULL,NULL,NULL),(7914,'UniProt Function',NULL,9585,NULL,'Involved in vesicular protein trafficking, mainly in the early secretory pathway. targeting. Involved in the maintenance of the Golgi apparatus. Appears to play a role in the biosynthesis of secreted cargo including processing. Involved in endoplasmic reticulum stress response. May play a role in the regulation of heat-shock response and apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(7915,'UniProt Function',NULL,9586,NULL,'ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. May play an important role in DNA damage response by acting at stalled replication forks.',NULL,NULL,NULL,NULL,NULL),(7916,'UniProt Function',NULL,9588,NULL,'Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Appears to play a role in the biosynthesis of secreted cargo including processing and post-translational modifications.',NULL,NULL,NULL,NULL,NULL),(7917,'UniProt Function',NULL,9589,NULL,'Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways. Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by phosphorylating UPF1/RENT1. Recruited by release factors to stalled ribosomes together with SMG8 and SMG9 (forming the SMG1C protein kinase complex), and UPF1 to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Also acts as a genotoxic stress-activated protein kinase that displays some functional overlap with ATM. Can phosphorylate p53/TP53 and is required for optimal p53/TP53 activation after cellular exposure to genotoxic stress. Its depletion leads to spontaneous DNA damage and increased sensitivity to ionizing radiation (IR). May activate PRKCI but not PRKCZ.',NULL,NULL,NULL,NULL,NULL),(7918,'UniProt Function',NULL,9590,NULL,'Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type.',NULL,NULL,NULL,NULL,NULL),(7919,'UniProt Function',NULL,9592,NULL,'Has activity against the synthetic substrates Boc-Phe-Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg-Mec. The single-chain form is more active than the two-chain form against all of these substrates.',NULL,NULL,NULL,NULL,NULL),(7920,'UniProt Function',NULL,9593,NULL,'May act as a transporter.',NULL,NULL,NULL,NULL,NULL),(7921,'UniProt Function',NULL,9596,NULL,'Possibly involved in cell-cell and cell-matrix interactions during inflammation and tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(7922,'UniProt Function',NULL,9597,NULL,'Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential).',NULL,NULL,NULL,NULL,NULL),(7923,'UniProt Function',NULL,9598,NULL,'Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin (PubMed:11847099, PubMed:12045258). Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin (PubMed:12045258). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099). Plays a central role in controlling thyroid cell metabolism (By similarity).',NULL,NULL,NULL,NULL,NULL),(7924,'UniProt Function',NULL,9599,NULL,'Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10. Promotes ADAM10-mediated cleavage of CDH2. Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity.',NULL,NULL,NULL,NULL,NULL),(7925,'UniProt Function',NULL,9601,NULL,'Regulates maturation of the transmembrane metalloprotease ADAM10.',NULL,NULL,NULL,NULL,NULL),(7926,'UniProt Function',NULL,9603,NULL,'Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1) (By similarity). Acts as a regulator of membrane proteinases such as ADAM10 and MMP14/MT1-MMP. Activates ADAM10-dependent cleavage activity of amyloid precursor protein (APP). Activates MMP14/MT1-MMP-dependent cleavage activity.',NULL,NULL,NULL,NULL,NULL),(7927,'UniProt Function',NULL,9604,NULL,'Acts in combination with TSN as an endonuclease involved in the activation of the RNA-induced silencing complex (RISC). Possible role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(7928,'UniProt Function',NULL,9605,NULL,'Regulates the proliferation and migration of oligodendrocytes, a process essential for normal myelination and repair.',NULL,NULL,NULL,NULL,NULL),(7929,'UniProt Function',NULL,9606,NULL,'Binds cholesterol and mediates its redistribution during erythropoiesis which may play a role in erythrocyte maturation.',NULL,NULL,NULL,NULL,NULL),(7930,'UniProt Function',NULL,9607,NULL,'Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Binds heparin. May play a role in dentinogenesis and/or maintenance of dentin and dental pulp (By similarity). Ligand for CD36 mediating antiangiogenic properties. Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors (By similarity).',NULL,NULL,NULL,NULL,NULL),(7931,'UniProt Function',NULL,9608,NULL,'Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Ligand for CD36 mediating antiangiogenic properties.',NULL,NULL,NULL,NULL,NULL),(7932,'UniProt Function',NULL,9610,NULL,'Probable pre-rRNA processing protein involved in ribosome biogenesis.',NULL,NULL,NULL,NULL,NULL),(7933,'UniProt Function',NULL,9611,NULL,'Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates TSKS at \'Ser-288\' and SPAG16. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. During spermatogenesis, required for the transformation of a ring-shaped structure around the base of the flagellum originating from the chromatoid body.',NULL,NULL,NULL,NULL,NULL),(7934,'UniProt Function',NULL,9612,NULL,'Part of the CASK/TBR1/TSPYL2 transcriptional complex which modulates gene expression in response to neuronal synaptic activity, probably by facilitating nucleosome assembly. May inhibit cell proliferation by inducing p53-dependent CDKN1A expression.',NULL,NULL,NULL,NULL,NULL),(7935,'UniProt Function',NULL,9613,NULL,'Serine/threonine kinase that acts as a key regulator of ciliogenesis: controls the initiation of ciliogenesis by binding to the distal end of the basal body and promoting the removal of CCP110, which caps the mother centriole, leading to the recruitment of IFT proteins, which build the ciliary axoneme. Has some substrate preference for proteins that are already phosphorylated on a Tyr residue at the +2 position relative to the phosphorylation site. Able to phosphorylate tau on serines in vitro.',NULL,NULL,NULL,NULL,NULL),(7936,'UniProt Function',NULL,9614,NULL,'Involved in modulation of cell growth and cellular response to gamma radiation probably via regulation of the Akt signaling pathway. Involved in regulation of p53/TP53. Suppresses p53/TP53 protein levels and promotes its ubiquitination; the function is dependent on USP7 and independent on MDM2. Proposed to displace p53/TP53 from interaction with USP7.',NULL,NULL,NULL,NULL,NULL),(7937,'UniProt Function',NULL,9617,NULL,'Protease that may play a role in T-cell development.',NULL,NULL,NULL,NULL,NULL),(7938,'UniProt Function',NULL,9618,NULL,'During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody.',NULL,NULL,NULL,NULL,NULL),(7939,'UniProt Function',NULL,9625,NULL,'E3 ubiquitin-protein ligase that mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus. Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation. Catalyzes the formation of \'Lys-48\'-polyubiquitin chains. May play a role in neuronal differentiation inhibition via its interaction with CIT.',NULL,NULL,NULL,NULL,NULL),(7940,'UniProt Function',NULL,9627,NULL,'DsDNA-dependent ATPase which acts as a transcription termination factor by coupling ATP hydrolysis with removal of RNA polymerase II from the DNA template. May contribute to mitotic transcription repression. May also be involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(7941,'UniProt Function',NULL,9628,NULL,'Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs.',NULL,NULL,NULL,NULL,NULL),(7942,'UniProt Function',NULL,9629,NULL,'Phosphorylates proteins on serine, threonine, and tyrosine. Probably associated with cell proliferation. Essential for chromosome alignment by enhancing AURKB activity (via direct CDCA8 phosphorylation) at the centromere, and for the mitotic checkpoint.',NULL,NULL,NULL,NULL,NULL),(7943,'UniProt Function',NULL,9630,NULL,'Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells (PubMed:7887897). Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity).',NULL,NULL,NULL,NULL,NULL),(7944,'UniProt Function',NULL,9631,NULL,'Monoglycylase which modifies alpha- and beta-tubulin, generating side chains of glycine on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin. Involved in the side-chain initiation step of the glycylation reaction by adding a single glycine chain to generate monoglycine side chains. Not involved in elongation step of the polyglycylation reaction.',NULL,NULL,NULL,NULL,NULL),(7945,'UniProt Function',NULL,9634,NULL,'Probable chloride channel. May be involved in cell adhesion (By similarity).',NULL,NULL,NULL,NULL,NULL),(7946,'UniProt Function',NULL,9634,NULL,'Isoform 3 may be a Ca(2+)-independent and swelling-activated chloride channel, possibly involved in regulation of cell volume.',NULL,NULL,NULL,NULL,NULL),(7947,'UniProt Function',NULL,9635,NULL,'Involved in the mineralization and structural organization of enamel.',NULL,NULL,NULL,NULL,NULL),(7948,'UniProt Function',NULL,9636,NULL,'Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.',NULL,NULL,NULL,NULL,NULL),(7949,'UniProt Function',NULL,9637,NULL,'Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein-coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. Not involved in ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(7950,'UniProt Function',NULL,9638,NULL,'Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay (PubMed:25480299). Essential for both oocyte maturation and fertility. Through 3\' terminal uridylation of mRNA, sculpts, with TUT7, the maternal transcriptome by eliminating transcripts during oocyte growth (By similarity). Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets. Also functions as an integral regulator of microRNA biogenesis using 3 different uridylation mechanisms (PubMed:25979828). Acts as a suppressor of miRNA biogenesis by mediating the terminal uridylation of some miRNA precursors, including that of let-7 (pre-let-7), miR107, miR-143 and miR-200c. Uridylated miRNAs are not processed by Dicer and undergo degradation. Degradation of pre-let-7 contributes to the maintenance of embryonic stem (ES) cell pluripotency (By similarity). Also catalyzes the 3\' uridylation of miR-26A, a miRNA that targets IL6 transcript. This abrogates the silencing of IL6 transcript, hence promoting cytokine expression (PubMed:19703396). In the absence of LIN28A, TUT7 and TUT4 monouridylate group II pre-miRNAs, which includes most of pre-let7 members, that shapes an optimal 3\' end overhang for efficient processing (PubMed:25979828). Adds oligo-U tails to truncated pre-miRNAS with a 5\' overhang which may promote rapid degradation of non-functional pre-miRNA species (PubMed:25979828). May also suppress Toll-like receptor-induced NF-kappa-B activation via binding to T2BP (PubMed:16643855). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Due to functional redundancy between TUT4 and TUT7, the identification of the specific role of each of these proteins is difficult (PubMed:25979828, PubMed:25480299, PubMed:16643855, PubMed:19703396, PubMed:18172165) (By similarity). TUT4 and TUT7 restrict retrotransposition of long interspersed element-1 (LINE-1) in cooperation with MOV10 counteracting the RNA chaperonne activity of L1RE1. TUT7 uridylates LINE-1 mRNAs in the cytoplasm which inhibits initiation of reverse transcription once in the nucleus, whereas uridylation by TUT4 destabilizes mRNAs in cytoplasmic ribonucleoprotein granules (PubMed:30122351).',NULL,NULL,NULL,NULL,NULL),(7951,'UniProt Function',NULL,9639,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7952,'UniProt Function',NULL,9640,NULL,'Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay (PubMed:19703396, PubMed:25480299). Essential for both oocyte maturation and fertility. Through 3\' terminal uridylation of mRNA, sculpts, with TUT7, the maternal transcriptome by eliminating transcripts during oocyte growth (By similarity). Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets (PubMed:25480299). Also functions as an integral regulator of microRNA biogenesiS using 3 different uridylation mechanisms (PubMed:25979828). Acts as a suppressor of miRNA biogenesis by mediating the terminal uridylation of some miRNA precursors, including that of let-7 (pre-let-7). Uridylated pre-let-7 RNA is not processed by Dicer and undergo degradation. Pre-let-7 uridylation is strongly enhanced in the presence of LIN28A (PubMed:22898984). In the absence of LIN28A, TUT7 and TUT4 monouridylate group II pre-miRNAs, which includes most of pre-let7 members, that shapes an optimal 3\' end overhang for efficient processing (PubMed:25979828, PubMed:28671666). Add oligo-U tails to truncated pre-miRNAS with a 5\' overhang which may promote rapid degradation of non-functional pre-miRNA species (PubMed:25979828). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Due to functional redundancy between TUT4 and TUT7, the identification of the specific role of each of these proteins is difficult (PubMed:25979828, PubMed:25480299, PubMed:19703396, PubMed:22898984, PubMed:18172165, PubMed:28671666). TUT4 and TUT7 restrict retrotransposition of long interspersed element-1 (LINE-1) in cooperation with MOV10 counteracting the RNA chaperonne activity of L1RE1. TUT7 uridylates LINE-1 mRNAs in the cytoplasm which inhibits initiation of reverse transcription once in the nucleus, whereas uridylation by TUT4 destabilizes mRNAs in cytoplasmic ribonucleoprotein granules (PubMed:30122351).',NULL,NULL,NULL,NULL,NULL),(7953,'UniProt Function',NULL,9641,NULL,'Functions in dendrite outgrowth and synapse maturation.',NULL,NULL,NULL,NULL,NULL),(7954,'UniProt Function',NULL,9642,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7955,'UniProt Function',NULL,9643,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7956,'UniProt Function',NULL,9644,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7957,'UniProt Function',NULL,9645,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7958,'UniProt Function',NULL,9646,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7959,'UniProt Function',NULL,9647,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7960,'UniProt Function',NULL,9648,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7961,'UniProt Function',NULL,9649,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7962,'UniProt Function',NULL,9650,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7963,'UniProt Function',NULL,9651,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7964,'UniProt Function',NULL,9652,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7965,'UniProt Function',NULL,9653,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7966,'UniProt Function',NULL,9654,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7967,'UniProt Function',NULL,9655,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7968,'UniProt Function',NULL,9656,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7969,'UniProt Function',NULL,9657,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7970,'UniProt Function',NULL,9660,NULL,'Plays a role in fertilization by controlling binding of sperm to zona pellucida and migration of spermatozoa into the oviduct (By similarity). May play a role in signal transduction and promote protein tyrosine phosphorylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(7971,'UniProt Function',NULL,9662,NULL,'May act as a redox regulator involved in DUOX proteins folding. The interaction with DUOX1 and DUOX2 suggest that it belongs to a multiprotein complex constituting the thyroid H(2)O(2) generating system. It is however not sufficient to assist DUOX1 and DUOX2 in H(2)O(2) generation.',NULL,NULL,NULL,NULL,NULL),(7972,'UniProt Function',NULL,9663,NULL,'Involved in citrate-H(+)/malate exchange. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway.',NULL,NULL,NULL,NULL,NULL),(7973,'UniProt Function',NULL,9664,NULL,'DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 5\'-phosphodiester bond, giving rise to DNA with a free 5\' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomerase 2 (TOP2) active site tyrosine residue. The 5\'-tyrosyl DNA phosphodiesterase activity can enable the repair of TOP2-induced DNA double-strand breaks/DSBs without the need for nuclease activity, creating a \'clean\' DSB with 5\'-phosphate termini that are ready for ligation. Thereby, protects the transcription of many genes involved in neurological development and maintenance from the abortive activity of TOP2. Hydrolyzes 5\'-phosphoglycolates on protruding 5\' ends on DSBs due to DNA damage by radiation and free radicals. Has preference for single-stranded DNA or duplex DNA with a 4 base pair overhang as substrate. Acts as a regulator of ribosome biogenesis following stress. Has also 3\'-tyrosyl DNA phosphodiesterase activity, but less efficiently and much slower than TDP1. Constitutes the major if not only 5\'-tyrosyl-DNA phosphodiesterase in cells. Also acts as an adapter by participating in the specific activation of MAP3K7/TAK1 in response to TGF-beta: associates with components of the TGF-beta receptor-TRAF6-TAK1 signaling module and promotes their ubiquitination dependent complex formation. Involved in non-canonical TGF-beta induced signaling routes. May also act as a negative regulator of ETS1 and may inhibit NF-kappa-B activation.',NULL,NULL,NULL,NULL,NULL),(7974,'UniProt Function',NULL,9664,NULL,'(Microbial infection) Also acts as a 5\'-tyrosyl-RNA phosphodiesterase following picornavirus infection: its activity is hijacked by picornavirus and acts by specifically cleaving the protein-RNA covalent linkage generated during the viral genomic RNA replication steps of a picornavirus infection, without impairing the integrity of viral RNA.',NULL,NULL,NULL,NULL,NULL),(7975,'UniProt Function',NULL,9665,NULL,'Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins.',NULL,NULL,NULL,NULL,NULL),(7976,'UniProt Function',NULL,9667,NULL,'Required for ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(7977,'UniProt Function',NULL,9669,NULL,'Receptor for TNFSF8/CD30L. May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B.',NULL,NULL,NULL,NULL,NULL),(7978,'UniProt Function',NULL,9670,NULL,'Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Contributes to the induction of non-cytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase.',NULL,NULL,NULL,NULL,NULL),(7979,'UniProt Function',NULL,9671,NULL,'Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.',NULL,NULL,NULL,NULL,NULL),(7980,'UniProt Function',NULL,9672,NULL,'Methylates the 2\'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs.',NULL,NULL,NULL,NULL,NULL),(7981,'UniProt Function',NULL,9673,NULL,'May play a role in vesicular transport from endoplasmic reticulum to Golgi.',NULL,NULL,NULL,NULL,NULL),(7982,'UniProt Function',NULL,9674,NULL,'Cell surface receptor that may play a role in the innate and adaptive immune response. Acts as a counter-receptor for CD276 and interaction with CD276 on T-cells enhances T-cell activation.',NULL,NULL,NULL,NULL,NULL),(7983,'UniProt Function',NULL,9675,NULL,'Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.',NULL,NULL,NULL,NULL,NULL),(7984,'UniProt Function',NULL,9676,NULL,'Monoglycylase which modifies both tubulin and non-tubulin proteins, generating side chains of glycine on the gamma-carboxyl groups of specific glutamate residues of target proteins. Monoglycylates tubulin, with a preference for alpha-tubulin toward beta-tubulin. Has the ability to modify non-tubulin proteins such as ANP32A, ANP32B, SET and NCL. Involved in the side-chain initiation step of the glycylation reaction by adding a single glycine chain to generate monoglycine side chains. Not involved in elongation step of the polyglycylation reaction (By similarity).',NULL,NULL,NULL,NULL,NULL),(7985,'UniProt Function',NULL,9677,NULL,'Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(7986,'UniProt Function',NULL,9678,NULL,'Polyglutamylase which preferentially modifies alpha-tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity).',NULL,NULL,NULL,NULL,NULL),(7987,'UniProt Function',NULL,9679,NULL,'May act as a protein that binds a hydrophobic ligand.',NULL,NULL,NULL,NULL,NULL),(7988,'UniProt Function',NULL,9681,NULL,'Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction.',NULL,NULL,NULL,NULL,NULL),(7989,'UniProt Function',NULL,9682,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7990,'UniProt Function',NULL,9683,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7991,'UniProt Function',NULL,9685,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7992,'UniProt Function',NULL,9686,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7993,'UniProt Function',NULL,9687,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7994,'UniProt Function',NULL,9688,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7995,'UniProt Function',NULL,9689,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7996,'UniProt Function',NULL,9690,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7997,'UniProt Function',NULL,9691,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7998,'UniProt Function',NULL,9692,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(7999,'UniProt Function',NULL,9693,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8000,'UniProt Function',NULL,9694,NULL,'Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles (By similarity).',NULL,NULL,NULL,NULL,NULL),(8001,'UniProt Function',NULL,9695,NULL,'May be involved in dorsoventral axis formation. Seems to antagonize BMP signaling by forming ternary complexes with CHRD and BMPs, thereby preventing BMPs from binding to their receptors. In addition to the anti-BMP function, also has pro-BMP activity, partly mediated by cleavage and degradation of CHRD, which releases BMPs from ternary complexes. May be an important modulator of BMP-regulated cartilage development and chondrocyte differentiation. May play a role in thymocyte development (By similarity).',NULL,NULL,NULL,NULL,NULL),(8002,'UniProt Function',NULL,9696,NULL,'Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles. May play a role in regulating the mature length of the middle and short rows of stereocilia (By similarity).',NULL,NULL,NULL,NULL,NULL),(8003,'UniProt Function',NULL,9697,NULL,'Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-ARNTL/BMAL1 heterodimer (By similarity).',NULL,NULL,NULL,NULL,NULL),(8004,'UniProt Function',NULL,9698,NULL,'May regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6.',NULL,NULL,NULL,NULL,NULL),(8005,'UniProt Function',NULL,9699,NULL,'May be involved in intracellular vesicle traffic and potentially in calcium-dependent exocytosis in neuroendocrine cells.',NULL,NULL,NULL,NULL,NULL),(8006,'UniProt Function',NULL,9700,NULL,'Peroxisomal protease that mediates both the removal of the leader peptide from proteins containing a PTS2 target sequence and processes several PTS1-containing proteins. Catalyzes the processing of PTS1-proteins involved in the peroxisomal beta-oxidation of fatty acids.',NULL,NULL,NULL,NULL,NULL),(8007,'UniProt Function',NULL,9702,NULL,'Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site. Binds to the consensus sequence 5\'-CCGCCATNTT-3\'; some genes have been shown to contain a longer binding motif allowing enhanced binding; the initial CG dinucleotide can be methylated greatly reducing the binding affinity. The effect on transcription regulation is depending upon the context in which it binds and diverse mechanisms of action include direct activation or repression, indirect activation or repression via cofactor recruitment, or activation or repression by disruption of binding sites or conformational DNA changes. Its activity is regulated by transcription factors and cytoplasmic proteins that have been shown to abrogate or completely inhibit YY1-mediated activation or repression. For example, it acts as a repressor in absence of adenovirus E1A protein but as an activator in its presence. Acts synergistically with the SMAD1 and SMAD4 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (PubMed:15329343). Binds to SMAD binding elements (SBEs) (5\'-GTCT/AGAC-3\') within BMP response element (BMPRE) of cardiac activating regions. May play an important role in development and differentiation. Proposed to recruit the PRC2/EED-EZH2 complex to target genes that are transcriptional repressed. Involved in DNA repair. In vitro, binds to DNA recombination intermediate structures (Holliday junctions). Plays a role in regulating enhancer activation (PubMed:28575647).',NULL,NULL,NULL,NULL,NULL),(8008,'UniProt Function',NULL,9702,NULL,'Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair; proposed to target the INO80 complex to YY1-responsive elements.',NULL,NULL,NULL,NULL,NULL),(8009,'UniProt Function',NULL,9704,NULL,'Probable E2 ubiquitin-protein ligase that catalyzes the covalent attachment of ubiquitin to target proteins. May facilitate the monoubiquitination and degradation of MTOR and CCNE1 through interaction with FBXW7.',NULL,NULL,NULL,NULL,NULL),(8010,'UniProt Function',NULL,9705,NULL,'Calcium-permeable, non-selective cation channel with an outward rectification. Seems to be regulated, at least in part, by IGF-I, PDGF and neuropeptide head activator. May transduce physical stimuli in mast cells. Activated by temperatures higher than 52 degrees Celsius; is not activated by vanilloids and acidic pH.',NULL,NULL,NULL,NULL,NULL),(8011,'UniProt Function',NULL,9706,NULL,'Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18826956, PubMed:18695040). Also activated by heat, low pH, citrate and phorbol esters (PubMed:16293632, PubMed:18826956, PubMed:18695040, PubMed:25256292, PubMed:20037586, PubMed:21964574). Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism (PubMed:12724311, PubMed:18826956). Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes (PubMed:19759329). Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 (PubMed:19759329). Together with PKD2, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to proinflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). Required for normal development and maintenance of bone and cartilage (PubMed:26249260).',NULL,NULL,NULL,NULL,NULL),(8012,'UniProt Function',NULL,9706,NULL,'Isoform 5: Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by phorbol esters. Has the same channel activity as isoform 1, and is activated by the same stimuli.',NULL,NULL,NULL,NULL,NULL),(8013,'UniProt Function',NULL,9706,NULL,'Isoform 2: Lacks channel activity, due to impaired oligomerization and intracellular retention.',NULL,NULL,NULL,NULL,NULL),(8014,'UniProt Function',NULL,9706,NULL,'Isoform 4: Lacks channel activity, due to impaired oligomerization and intracellular retention.',NULL,NULL,NULL,NULL,NULL),(8015,'UniProt Function',NULL,9706,NULL,'Isoform 6: Lacks channel activity, due to impaired oligomerization and intracellular retention.',NULL,NULL,NULL,NULL,NULL),(8016,'UniProt Function',NULL,9707,NULL,'Co-chaperone that facilitates HSP-mediated activation of TSSK6.',NULL,NULL,NULL,NULL,NULL),(8017,'UniProt Function',NULL,9708,NULL,'Putative taste receptor. TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners.',NULL,NULL,NULL,NULL,NULL),(8018,'UniProt Function',NULL,9709,NULL,'In the ileum, may be involved in defensin processing, including DEFA5.',NULL,NULL,NULL,NULL,NULL),(8019,'UniProt Function',NULL,9710,NULL,'May play a role in development or function of the auditory system.',NULL,NULL,NULL,NULL,NULL),(8020,'UniProt Function',NULL,9711,NULL,'Plays a role in spermatogenesis (PubMed:28905369). When overexpressed, prevents nuclear localization of HIF1A (By similarity).',NULL,NULL,NULL,NULL,NULL),(8021,'UniProt Function',NULL,9712,NULL,'Indispensable for the control of thyroid structure and metabolism.',NULL,NULL,NULL,NULL,NULL),(8022,'UniProt Function',NULL,9713,NULL,'May play a role in testicular physiology, most probably in the process of spermatogenesis or spermatid development.',NULL,NULL,NULL,NULL,NULL),(8023,'UniProt Function',NULL,9715,NULL,'Isoform 1: Cytokine that induces the release of T-cell-attracting chemokines from monocytes and, in particular, enhances the maturation of CD11c(+) dendritic cells. Can induce allergic inflammation by directly activating mast cells.',NULL,NULL,NULL,NULL,NULL),(8024,'UniProt Function',NULL,9715,NULL,'Isoform 2: May act as an antimicrobial peptide in the oral cavity and on the skin.',NULL,NULL,NULL,NULL,NULL),(8025,'UniProt Function',NULL,9718,NULL,'Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10 (PubMed:26668317, PubMed:23035126, PubMed:26686862). Negatively regulates ADAM10-mediated cleavage of GP6 (By similarity). Promotes ADAM10-mediated cleavage of CDH5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(8026,'UniProt Function',NULL,9719,NULL,'May be involved in 20S pre-rRNA processing.',NULL,NULL,NULL,NULL,NULL),(8027,'UniProt Function',NULL,9721,NULL,'May be involved in cell proliferation and cell motility.',NULL,NULL,NULL,NULL,NULL),(8028,'UniProt Function',NULL,9724,NULL,'May be involved in a signaling pathway during male germ cell development or mature sperm function.',NULL,NULL,NULL,NULL,NULL),(8029,'UniProt Function',NULL,9727,NULL,'Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip.',NULL,NULL,NULL,NULL,NULL),(8030,'UniProt Function',NULL,9728,NULL,'Required for the docking of the outer dynein arm to cilia, hence plays an essential role in cilia motility.',NULL,NULL,NULL,NULL,NULL),(8031,'UniProt Function',NULL,9731,NULL,'The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.',NULL,NULL,NULL,NULL,NULL),(8032,'UniProt Function',NULL,9732,NULL,'Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C).',NULL,NULL,NULL,NULL,NULL),(8033,'UniProt Function',NULL,9735,NULL,'Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals.',NULL,NULL,NULL,NULL,NULL),(8034,'UniProt Function',NULL,9736,NULL,'Polyglutamylase which preferentially modifies alpha-tubulin. Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules. Increases the effects of NCOA2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction (PubMed:17116691, PubMed:22493317).',NULL,NULL,NULL,NULL,NULL),(8035,'UniProt Function',NULL,9737,NULL,'Polyglutamylase which preferentially modifies alpha-tubulin. Mediates tubulin polyglutamylation in cilia. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step. Generates long side-chains. Generates polyglutamylation of CGAS, leading to impair the DNA-binding activity of CGAS.',NULL,NULL,NULL,NULL,NULL),(8036,'UniProt Function',NULL,9738,NULL,'Polyglutamylase which preferentially modifies beta-tubulin (PubMed:25959773). Mediates both ATP-dependent initiation and elongation of polyglutamylation of microtubules (PubMed:25959773). Required for neurite growth; responsible for the strong increase in tubulin polyglutamylation during postnatal neuronal maturation (By similarity).',NULL,NULL,NULL,NULL,NULL),(8037,'UniProt Function',NULL,9739,NULL,'Polyglutamase which preferentially modifies alpha-tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules (PubMed:22493317). Generates long side-chains (By similarity).',NULL,NULL,NULL,NULL,NULL),(8038,'UniProt Function',NULL,9742,NULL,'Glutamylase which preferentially modifies beta-tubulin and non-tubulin proteins, such as NAP1L1, NAP1L4 and CGAS. Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step. Involved in formation of short side-chains. Mediates initiation of polyglutamylation of nucleosome assembly proteins NAP1L1 and NAP1L4. Also acts as a monoglutamylase: generates monoglutamylation of CGAS, leading to impair the nucleotidyltransferase activity of CGAS.',NULL,NULL,NULL,NULL,NULL),(8039,'UniProt Function',NULL,9743,NULL,'Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. May be involved in cell proliferation and cell aggregation.',NULL,NULL,NULL,NULL,NULL),(8040,'UniProt Function',NULL,9744,NULL,'Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.',NULL,NULL,NULL,NULL,NULL),(8041,'UniProt Function',NULL,9746,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(8042,'UniProt Function',NULL,9748,NULL,'May function as a tumor suppressor, inhibiting colony formation, causing G1 arrest and ultimately inducing apoptosis in homozygous 3p21.3 120-kb region-deficient cells.',NULL,NULL,NULL,NULL,NULL),(8043,'UniProt Function',NULL,9749,NULL,'Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with MAGT1. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Has also oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition.',NULL,NULL,NULL,NULL,NULL),(8044,'UniProt Function',NULL,9749,NULL,'Magnesium transporter.',NULL,NULL,NULL,NULL,NULL),(8045,'UniProt Function',NULL,9750,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8046,'UniProt Function',NULL,9751,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8047,'UniProt Function',NULL,9752,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8048,'UniProt Function',NULL,9753,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8049,'UniProt Function',NULL,9754,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8050,'UniProt Function',NULL,9755,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8051,'UniProt Function',NULL,9756,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8052,'UniProt Function',NULL,9757,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8053,'UniProt Function',NULL,9758,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8054,'UniProt Function',NULL,9759,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8055,'UniProt Function',NULL,9760,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8056,'UniProt Function',NULL,9761,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8057,'UniProt Function',NULL,9763,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8058,'UniProt Function',NULL,9765,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8059,'UniProt Function',NULL,9766,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8060,'UniProt Function',NULL,9767,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8061,'UniProt Function',NULL,9768,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8062,'UniProt Function',NULL,9769,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8063,'UniProt Function',NULL,9770,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8064,'UniProt Function',NULL,9771,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8065,'UniProt Function',NULL,9772,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8066,'UniProt Function',NULL,9773,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8067,'UniProt Function',NULL,9774,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8068,'UniProt Function',NULL,9775,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8069,'UniProt Function',NULL,9776,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8070,'UniProt Function',NULL,9777,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8071,'UniProt Function',NULL,9778,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8072,'UniProt Function',NULL,9779,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8073,'UniProt Function',NULL,9780,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8074,'UniProt Function',NULL,9781,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(8075,'UniProt Function',NULL,9782,NULL,'Binds to the E-box consensus sequence 5\'-CANNTG-3\' as a heterodimer and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Involved in postnatal glycogen storage and energy metabolism (By similarity). Inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis, possibly by changing the internal signal transduction response of osteoblasts to external growth factors.',NULL,NULL,NULL,NULL,NULL),(8076,'UniProt Function',NULL,9783,NULL,'Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers a fourth mannose to some trimannosyl-GPIs during GPI precursor assembly. The presence of a fourth mannose in GPI is facultative and only scarcely detected, suggesting that it only exists in some tissues.',NULL,NULL,NULL,NULL,NULL),(8077,'UniProt Function',NULL,9784,NULL,'Isoform 1 has alpha-ketoglutarate-dependent dioxygenase activity. Does not show detectable activity towards fatty acid CoA thioesters. Is not expected to be active with phytanoyl CoA. Isoform 2 and isoform 3 probably lack enzyme activity.',NULL,NULL,NULL,NULL,NULL),(8078,'UniProt Function',NULL,9785,NULL,'During mitosis, may play a role in the control of metaphase-to-anaphase transition.',NULL,NULL,NULL,NULL,NULL),(8079,'UniProt Function',NULL,9786,NULL,'Probable adapter protein that bind to and organize the subcellular localization of a variety of membrane proteins containing some PDZ recognition sequence. Involved in the clustering of various receptors, possibly by acting at the receptor internalization level. Plays a role in synaptic plasticity by regulating the trafficking and internalization of AMPA receptors. May be regulated upon PRKCA activation. May regulate ASIC1/ASIC3 channel. Regulates actin polymerization by inhibiting the actin-nucleating activity of the Arp2/3 complex; the function is competetive with nucleation promoting factors and is linked to neuronal morphology regulation and AMPA receptor (AMPAR) endocytosis. Via interaction with the Arp2/3 complex involved in regulation of synaptic plasicity of excitatory synapses and required for spine shrinkage during long-term depression (LTD). Involved in regulation of astrocyte morphology, antagonistic to Arp2/3 complex activator WASL/N-WASP function.',NULL,NULL,NULL,NULL,NULL),(8080,'UniProt Function',NULL,9787,NULL,'Protects against mitochondrial dysfunction during cellular stress by phosphorylating mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) by mediating activation and translocation of PRKN (PubMed:14607334, PubMed:15087508, PubMed:19229105, PubMed:19966284, PubMed:20404107, PubMed:20798600, PubMed:23620051, PubMed:23754282, PubMed:23933751, PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:24896179, PubMed:25527291). Targets PRKN to dysfunctional depolarized mitochondria through the phosphorylation of MFN2 (PubMed:23620051). Activates PRKN in 2 steps: (1) by mediating phosphorylation at \'Ser-65\' of PRKN and (2) mediating phosphorylation of ubiquitin, converting PRKN to its fully-active form (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291). Required for ubiquinone reduction by mitochondrial complex I by mediating phosphorylation of complex I subunit NDUFA10 (By similarity).',NULL,NULL,NULL,NULL,NULL),(8081,'UniProt Function',NULL,9788,NULL,'Regulatory subunit of TRPV1, a molecular sensor of noxious heat and capsaicin. Positively regulates TRPV1 channel activity via phosphatidylinositol 4,5-bisphosphate (PIP2). Binds various phosphoinositide, including phosphatidylinositol 4,5-bisphosphate (PIP2), but not phosphatidylinositol (PI) (By similarity).',NULL,NULL,NULL,NULL,NULL),(8082,'UniProt Function',NULL,9789,NULL,'Promotes the association of the proteasome activator complex subunit PSME3 with the 20S proteasome and regulates its activity. Inhibits PSME3-mediated degradation of some proteasome substrates, probably by affecting their diffusion rate into the catalytic chamber of the proteasome. Also inhibits the interaction of PSME3 with COIL, inhibits accumulation of PSME3 in Cajal bodies and positively regulates the number of Cajal bodies in the nucleus.',NULL,NULL,NULL,NULL,NULL),(8083,'UniProt Function',NULL,9790,NULL,'Endoribonuclease that plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Plays an essential role in meiotic differentiation of spermatocytes, germ cell differentiation and in self-renewal of spermatogonial stem cells (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons (By similarity). During piRNA biosynthesis, plays a key role in the piRNA amplification loop, also named ping-pong amplification cycle, by acting as a \'slicer-competent\' piRNA endoribonuclease that cleaves primary piRNAs, which are then loaded onto \'slicer-incompetent\' PIWIL4 (By similarity). PIWIL2 slicing produces a pre-miRNA intermediate, which is then processed in mature piRNAs, and as well as a 16 nucleotide by-product that is degraded (By similarity). Required for PIWIL4/MIWI2 nuclear localization and association with secondary piRNAs antisense (By similarity). Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation (By similarity). Indirectly modulates expression of genes such as PDGFRB, SLC2A1, ITGA6, GJA7, THY1, CD9 and STRA8 (By similarity). When overexpressed, acts as an oncogene by inhibition of apoptosis and promotion of proliferation in tumors (PubMed:16377660).',NULL,NULL,NULL,NULL,NULL),(8084,'UniProt Function',NULL,9791,NULL,'Controls the stability of the leptin mRNA harboring an AU-rich element (ARE) in its 3\' UTR, in cooperation with the RNA stabilizer ELAVL1 (PubMed:29180010). Decreases the stability of the leptin mRNA by antagonizing the function of ELAVL1 by inducing its atypical recruitment from the nucleus to the cytosol (By similarity). Binds to cardiolipin (CL), phosphatidic acid (PA), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidylserine (PS) (PubMed:18191643). Promotes apoptosis by enhancing BAX-BAK hetro-oligomerization via interaction with BID in colon cancer cells (PubMed:29531808) (By similarity).',NULL,NULL,NULL,NULL,NULL),(8085,'UniProt Function',NULL,9792,NULL,'May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved in initiating the acrosome reaction of the sperm.',NULL,NULL,NULL,NULL,NULL),(8086,'UniProt Function',NULL,9793,NULL,'May play a role in neuropeptide signaling processes. Ligand for LGR7, relaxin-3 receptor-1 (GPCR135) and relaxin-3 receptor-2 (GPCR142).',NULL,NULL,NULL,NULL,NULL),(8087,'UniProt Function',NULL,9795,NULL,'Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase.',NULL,NULL,NULL,NULL,NULL),(8088,'UniProt Function',NULL,9796,NULL,'Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides.',NULL,NULL,NULL,NULL,NULL),(8089,'UniProt Function',NULL,9799,NULL,'May act as a transcriptional corepressor for KDM5D. Required for KDM5D-mediated down-regulation of diverse metastasis-associated genes; the function seems to involve the recognition of the dual histone signature H3K4me1-H3K14ac. Suppresses prostate cancer cell invasion.',NULL,NULL,NULL,NULL,NULL),(8090,'UniProt Function',NULL,9800,NULL,'Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death.',NULL,NULL,NULL,NULL,NULL),(8091,'UniProt Function',NULL,9801,NULL,'Plays a critical role in endothelial cell capillary morphogenesis.',NULL,NULL,NULL,NULL,NULL),(8092,'UniProt Function',NULL,9802,NULL,'The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes.',NULL,NULL,NULL,NULL,NULL),(8093,'UniProt Function',NULL,9803,NULL,'Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CENPJ/CPAP, CCP110, CEP135 and gamma-tubulin. When overexpressed, it is able to induce centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole during S phase. Phosphorylates \'Ser-151\' of FBXW5 during the G1/S transition, leading to inhibit FBXW5 ability to ubiquitinate SASS6. Its central role in centriole replication suggests a possible role in tumorigenesis, centrosome aberrations being frequently observed in tumors. Also involved in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Also involved in trophoblast differentiation by phosphorylating HAND1, leading to disrupt the interaction between HAND1 and MDFIC and activate HAND1. Phosphorylates CDC25C and CHEK2. Required for the recruitment of STIL to the centriole and for STIL-mediated centriole amplification (PubMed:22020124).',NULL,NULL,NULL,NULL,NULL),(8094,'UniProt Function',NULL,9804,NULL,'Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphorylated. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Contributes to female sexual development by maintaining the excitability of neurons which secrete gonadotropin-releasing hormone.',NULL,NULL,NULL,NULL,NULL),(8095,'UniProt Function',NULL,9805,NULL,'Receptor for plasminogen. Regulates urokinase plasminogen activator-dependent and stimulates tissue-type plasminogen activator-dependent cell surface plasminogen activation. Proposed to be part of a local catecholaminergic cell plasminogen activation system that regulates neuroendocrine prohormone processing. Involved in regulation of inflammatory response; regulates monocyte chemotactic migration and matrix metallproteinase activation, such as of MMP2 and MMP9.',NULL,NULL,NULL,NULL,NULL),(8096,'UniProt Function',NULL,9806,NULL,'Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F-actin polymerization at the pseudopods.',NULL,NULL,NULL,NULL,NULL),(8097,'UniProt Function',NULL,9806,NULL,'Isoform ankyrin-iPLA2-1 and isoform ankyrin-iPLA2-2, which lack the catalytic domain, are probably involved in the negative regulation of iPLA2 activity.',NULL,NULL,NULL,NULL,NULL),(8098,'UniProt Function',NULL,9807,NULL,'The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine-exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation.',NULL,NULL,NULL,NULL,NULL),(8099,'UniProt Function',NULL,9810,NULL,'Acts as a negative regulator of entry into mitosis (G2 to M transition) by phosphorylation of the CDK1 kinase specifically when CDK1 is complexed to cyclins. Mediates phosphorylation of CDK1 predominantly on \'Thr-14\'. Also involved in Golgi fragmentation. May be involved in phosphorylation of CDK1 on \'Tyr-15\' to a lesser degree, however tyrosine kinase activity is unclear and may be indirect. May be a downstream target of Notch signaling pathway during eye development.',NULL,NULL,NULL,NULL,NULL),(8100,'UniProt Function',NULL,9812,NULL,'Plays a role in mitotic cell cycle progression and is involved in kinetochore assembly and mitotic sister chromatid cohesion. Probably through its association with CBX5 plays a role in mitotic chromosome segregation by regulating aurora kinase B/AURKB activation and AURKB and CBX5 dissociation from chromosome arms.',NULL,NULL,NULL,NULL,NULL),(8101,'UniProt Function',NULL,9813,NULL,'Transcription factor that acts synergistically with SOX11 and SOX4. Plays a role in neuronal development. Is implicated in an enhancer activity at the embryonic met-mesencephalic junction; the enhancer element contains the octamer motif (5\'-ATTTGCAT-3\') (By similarity).',NULL,NULL,NULL,NULL,NULL),(8102,'UniProt Function',NULL,9814,NULL,'The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution (By similarity).',NULL,NULL,NULL,NULL,NULL),(8103,'UniProt Function',NULL,9814,NULL,'Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution (By similarity).',NULL,NULL,NULL,NULL,NULL),(8104,'UniProt Function',NULL,9815,NULL,'DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3\'-5\' proofreading exonuclease activity. Forms a Schiff base with 5\'-deoxyribose phosphate at abasic sites, but does not have lyase activity.',NULL,NULL,NULL,NULL,NULL),(8105,'UniProt Function',NULL,9816,NULL,'Acts as a coactivator during transcriptional activation of nuclear genes related to mitochondrial biogenesis and cell growth. Involved in the transcription coactivation of CREB and NRF1 target genes.',NULL,NULL,NULL,NULL,NULL),(8106,'UniProt Function',NULL,9818,NULL,'Demethylates proteins that have been reversibly carboxymethylated. Demethylates PPP2CB (in vitro) and PPP2CA. Binding to PPP2CA displaces the manganese ion and inactivates the enzyme.',NULL,NULL,NULL,NULL,NULL),(8107,'UniProt Function',NULL,9819,NULL,'Isoform 1: May target protein phosphatase 1 to F-actin cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(8108,'UniProt Function',NULL,9819,NULL,'Isoform 4: May target protein phosphatase 1 to F-actin cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(8109,'UniProt Function',NULL,9821,NULL,'General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle docking and fusion by mediating the action of Rab GTPases to the SNARE complexes. In addition it inhibits the removal of Rab GTPases from the membrane by GDI.',NULL,NULL,NULL,NULL,NULL),(8110,'UniProt Function',NULL,9822,NULL,'Key regulator of cytokinesis that cross-links antiparrallel microtubules at an average distance of 35 nM. Essential for controlling the spatiotemporal formation of the midzone and successful cytokinesis. Required for KIF14 localization to the central spindle and midbody. Required to recruit PLK1 to the spindle. Stimulates PLK1 phosphorylation of RACGAP1 to allow recruitment of ECT2 to the central spindle. Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression (PubMed:17409436).',NULL,NULL,NULL,NULL,NULL),(8111,'UniProt Function',NULL,9824,NULL,'Involved in vision.',NULL,NULL,NULL,NULL,NULL),(8112,'UniProt Function',NULL,9825,NULL,'May function as a transcription factor involved in cell differentiation.',NULL,NULL,NULL,NULL,NULL),(8113,'UniProt Function',NULL,9827,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(8114,'UniProt Function',NULL,9829,NULL,'Putative histone methyltransferase that acts as a transcriptional repressor of smooth muscle gene expression. Promotes the transition from differentiated to proliferative smooth muscle by suppressing differentiation and maintaining the proliferative potential of vascular smooth muscle cells. Also plays a role in endothelial cells by inhibiting endothelial cell proliferation, survival and differentiation. It is unclear whether it has histone methyltransferase activity in vivo. According to some authors, it does not act as a histone methyltransferase by itself and represses transcription by recruiting EHMT2/G9a. According to others, it possesses histone methyltransferase activity when associated with other proteins and specifically methylates \'Lys-20\' of histone H4 in vitro. \'Lys-20\' methylation represents a specific tag for epigenetic transcriptional repression.',NULL,NULL,NULL,NULL,NULL),(8115,'UniProt Function',NULL,9830,NULL,'Required for normal acrosome reaction and for normal male fertility (By similarity). Can bind Cu(2+) (PubMed:15218028, PubMed:20411530).',NULL,NULL,NULL,NULL,NULL),(8116,'UniProt Function',NULL,9831,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(8117,'UniProt Function',NULL,9833,NULL,'Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A.',NULL,NULL,NULL,NULL,NULL),(8118,'UniProt Function',NULL,9834,NULL,'Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5-phosphopentoses. May also catalyze the interconversion of glucose-1-phosphate and glucose-6-phosphate. Has low glucose 1,6-bisphosphate synthase activity.',NULL,NULL,NULL,NULL,NULL),(8119,'UniProt Function',NULL,9835,NULL,'Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation and thus providing a selective advantage in tumorigenesis. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression and by phosphorylation and inhibition of proapoptotic proteins (BAD, MAP3K5, FOXO3). Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase of transcriptional activity. The stabilization of MYC exerted by PIM1 might explain partly the strong synergism between these two oncogenes in tumorigenesis. Mediates survival signaling through phosphorylation of BAD, which induces release of the anti-apoptotic protein Bcl-X(L)/BCL2L1. Phosphorylation of MAP3K5, an other proapoptotic protein, by PIM1, significantly decreases MAP3K5 kinase activity and inhibits MAP3K5-mediated phosphorylation of JNK and JNK/p38MAPK subsequently reducing caspase-3 activation and cell apoptosis. Stimulates cell cycle progression at the G1-S and G2-M transitions by phosphorylation of CDC25A and CDC25C. Phosphorylation of CDKN1A, a regulator of cell cycle progression at G1, results in the relocation of CDKN1A to the cytoplasm and enhanced CDKN1A protein stability. Promote cell cycle progression and tumorigenesis by down-regulating expression of a regulator of cell cycle progression, CDKN1B, at both transcriptional and post-translational levels. Phosphorylation of CDKN1B,induces 14-3-3-proteins binding, nuclear export and proteasome-dependent degradation. May affect the structure or silencing of chromatin by phosphorylating HP1 gamma/CBX3. Acts also as a regulator of homing and migration of bone marrow cells involving functional interaction with the CXCL12-CXCR4 signaling axis.',NULL,NULL,NULL,NULL,NULL),(8120,'UniProt Function',NULL,9836,NULL,'Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. In vitro, binds A/T-rich DNA. The effects of this transcriptional coregulation, transactivation or silencing, may vary depending upon the biological context. Together with PRMT1, may repress STAT1 transcriptional activity, in the late phase of interferon gamma (IFN-gamma) signaling. Sumoylates PML (at\'Lys-65\' and \'Lys-160\') and PML-RAR and promotes their ubiquitin-mediated degradation. PIAS1-mediated sumoylation of PML promotes its interaction with CSNK2A1/CK2 which in turn promotes PML phosphorylation and degradation (By similarity). Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation. Plays a dynamic role in adipogenesis by promoting the SUMOylation and degradation of CEBPB (By similarity).',NULL,NULL,NULL,NULL,NULL),(8121,'UniProt Function',NULL,9837,NULL,'Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the third alpha-1,2-mannose to Man2-GlcN-acyl-PI during GPI precursor assembly.',NULL,NULL,NULL,NULL,NULL),(8122,'UniProt Function',NULL,9838,NULL,'This receptor binds polymeric IgA and IgM at the basolateral surface of epithelial cells. The complex is then transported across the cell to be secreted at the apical surface. During this process a cleavage occurs that separates the extracellular (known as the secretory component) from the transmembrane segment.',NULL,NULL,NULL,NULL,NULL),(8123,'UniProt Function',NULL,9840,NULL,'Receptor for prokineticin 1. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase. May play a role during early pregnancy.',NULL,NULL,NULL,NULL,NULL),(8124,'UniProt Function',NULL,9841,NULL,'Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:28533407, PubMed:27775714). Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407). Might also have a role in the development and maturation of lymphoid cells (By similarity). Involved in the regulation of non-canonical NF-kappa-B pathway (PubMed:20460684).',NULL,NULL,NULL,NULL,NULL),(8125,'UniProt Function',NULL,9842,NULL,'Contributes to invasiveness in malignant prostate cancer.',NULL,NULL,NULL,NULL,NULL),(8126,'UniProt Function',NULL,9843,NULL,'Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Links G-protein coupled receptor activation to PIP3 production. Involved in immune, inflammatory and allergic responses. Modulates leukocyte chemotaxis to inflammatory sites and in response to chemoattractant agents. May control leukocyte polarization and migration by regulating the spatial accumulation of PIP3 and by regulating the organization of F-actin formation and integrin-based adhesion at the leading edge. Controls motility of dendritic cells. Together with PIK3CD is involved in natural killer (NK) cell development and migration towards the sites of inflammation. Participates in T-lymphocyte migration. Regulates T-lymphocyte proliferation and cytokine production. Together with PIK3CD participates in T-lymphocyte development. Required for B-lymphocyte development and signaling. Together with PIK3CD participates in neutrophil respiratory burst. Together with PIK3CD is involved in neutrophil chemotaxis and extravasation. Together with PIK3CB promotes platelet aggregation and thrombosis. Regulates alpha-IIb/beta-3 integrins (ITGA2B/ ITGB3) adhesive function in platelets downstream of P2Y12 through a lipid kinase activity-independent mechanism. May have also a lipid kinase activity-dependent function in platelet aggregation. Involved in endothelial progenitor cell migration. Negative regulator of cardiac contractility. Modulates cardiac contractility by anchoring protein kinase A (PKA) and PDE3B activation, reducing cAMP levels. Regulates cardiac contractility also by promoting beta-adrenergic receptor internalization by binding to GRK2 and by non-muscle tropomyosin phosphorylation. Also has serine/threonine protein kinase activity: both lipid and protein kinase activities are required for beta-adrenergic receptor endocytosis. May also have a scaffolding role in modulating cardiac contractility. Contributes to cardiac hypertrophy under pathological stress. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which the PI3K gamma complex is activated by RAPGEF3 and which is involved in angiogenesis.',NULL,NULL,NULL,NULL,NULL),(8127,'UniProt Function',NULL,9844,NULL,'May play a role in placental development.',NULL,NULL,NULL,NULL,NULL),(8128,'UniProt Function',NULL,9846,NULL,'The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes.',NULL,NULL,NULL,NULL,NULL),(8129,'UniProt Function',NULL,9848,NULL,'The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This form has a role in retina signal transduction.',NULL,NULL,NULL,NULL,NULL),(8130,'UniProt Function',NULL,9849,NULL,'Acts as a transcriptional activator (PubMed:9722527). Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide.',NULL,NULL,NULL,NULL,NULL),(8131,'UniProt Function',NULL,9850,NULL,'May play a role in triacylglycerol packaging into adipocytes. May function as a coat protein involved in the biogenesis of lipid droplets (By similarity).',NULL,NULL,NULL,NULL,NULL),(8132,'UniProt Function',NULL,9851,NULL,'Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Essential for trophoblast and placental development. May participate in cytokinesis by hydrolyzing PIP2 at the cleavage furrow.',NULL,NULL,NULL,NULL,NULL),(8133,'UniProt Function',NULL,9852,NULL,'Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Required for acrosome reaction in sperm during fertilization, probably by acting as an important enzyme for intracellular Ca(2+) mobilization in the zona pellucida-induced acrosome reaction. May play a role in cell growth. Modulates the liver regeneration in cooperation with nuclear PKC. Overexpression up-regulates the Erk signaling pathway and proliferation.',NULL,NULL,NULL,NULL,NULL),(8134,'UniProt Function',NULL,9853,NULL,'Broad-specificity phosphohydrolase that dephosphorylates exogenous bioactive glycerolipids and sphingolipids. Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). Pivotal regulator of lysophosphatidic acid (LPA) signaling in the cardiovascular system. Major enzyme responsible of dephosphorylating LPA in platelets, which terminates signaling actions of LPA. May control circulating, and possibly also regulate localized, LPA levels resulting from platelet activation. It has little activity towards ceramide-1-phosphate (C-1-P) and sphingosine-1-phosphate (S-1-P). The relative catalytic efficiency is LPA > PA > S-1-P > C-1-P. It\'s down-regulation may contribute to the development of colon adenocarcinoma.',NULL,NULL,NULL,NULL,NULL),(8135,'UniProt Function',NULL,9854,NULL,'Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). In addition it hydrolyzes lysophosphatidic acid (LPA), ceramide-1-phosphate (C-1-P) and sphingosine-1-phosphate (S-1-P). The relative catalytic efficiency is PA > C-1-P > LPA > S-1-P.',NULL,NULL,NULL,NULL,NULL),(8136,'UniProt Function',NULL,9855,NULL,'Displays magnesium-independent phosphatidate phosphatase activity in vitro. Catalyzes the conversion of phosphatidic acid to diacylglycerol. May be a metastatic suppressor for hepatocellular carcinoma.',NULL,NULL,NULL,NULL,NULL),(8137,'UniProt Function',NULL,9856,NULL,'Plays a role as negative regulator of myoblast differentiation, in part through effects on MTOR signaling. Has no detectable enzymatic activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(8138,'UniProt Function',NULL,9857,NULL,'Protein serine phosphatase that dephosphorylates \'Ser-3\' in cofilin and probably also dephosphorylates phospho-serine residues in DSTN. Regulates cofilin-dependent actin cytoskeleton reorganization. Required for normal progress through mitosis and normal cytokinesis. Does not dephosphorylate phospho-threonines in LIMK1. Does not dephosphorylate peptides containing phospho-tyrosine (PubMed:15580268). Pyridoxal phosphate (PLP) phosphatase, which also catalyzes the dephosphorylation of pyridoxine 5\'-phosphate (PNP) and pyridoxamine 5\'-phosphate (PMP), with order of substrate preference PLP > PNP > PMP (PubMed:14522954).',NULL,NULL,NULL,NULL,NULL),(8139,'UniProt Function',NULL,9858,NULL,'May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system.',NULL,NULL,NULL,NULL,NULL),(8140,'UniProt Function',NULL,9858,NULL,'May play a role in the antiviral response of interferon (IFN) by amplifying and enhancing the IFN response through increased expression of select subset of potent antiviral genes. May contribute to cytokine-regulated cell proliferation and differentiation.',NULL,NULL,NULL,NULL,NULL),(8141,'UniProt Function',NULL,9859,NULL,'Actin-binding protein (PubMed:16636079, PubMed:17294403, PubMed:28493397). Plays a role in the activation of T-cells in response to costimulation through TCR/CD3 and CD2 or CD28 (PubMed:17294403). Modulates the cell surface expression of IL2RA/CD25 and CD69 (PubMed:17294403).',NULL,NULL,NULL,NULL,NULL),(8142,'UniProt Function',NULL,9860,NULL,'Coreceptor for SEMA3A, SEMA3C, SEMA3F and SEMA6D. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity).',NULL,NULL,NULL,NULL,NULL),(8143,'UniProt Function',NULL,9861,NULL,'May play a role in sperm morphology especially the sperm tail and consequently affect fertility. May also be involved in the general organization of cellular cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(8144,'UniProt Function',NULL,9863,NULL,'Receptor for SEMA5A that plays a role in axon guidance, invasive growth and cell migration. Stimulates neurite outgrowth and mediates Ca(2+)/Mg(2+)-dependent cell aggregation. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of RAC1.',NULL,NULL,NULL,NULL,NULL),(8145,'UniProt Function',NULL,9866,NULL,'Converts noradrenaline to adrenaline.',NULL,NULL,NULL,NULL,NULL),(8146,'UniProt Function',NULL,9867,NULL,'Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.',NULL,NULL,NULL,NULL,NULL),(8147,'UniProt Function',NULL,9868,NULL,'Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly.',NULL,NULL,NULL,NULL,NULL),(8148,'UniProt Function',NULL,9869,NULL,'Involved in skeletal muscle differentiation. May act as a scaffold protein for AKT1 during muscle differentiation.',NULL,NULL,NULL,NULL,NULL),(8149,'UniProt Function',NULL,9870,NULL,'Secreted tyrosine-protein kinase that mediates phosphorylation of extracellular proteins and endogenous proteins in the secretory pathway, which is essential for patterning at organogenesis stages. Mediates phosphorylation of MMP1, MMP13, MMP14, MMP19 and ERP29 (PubMed:25171405). Probably plays a role in platelets: rapidly and quantitatively secreted from platelets in response to stimulation of platelet degranulation (PubMed:25171405). May also have serine/threonine protein kinase activity. Required for longitudinal bone growth through regulation of chondrocyte differentiation. May be indirectly involved in protein transport from the Golgi apparatus to the plasma membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(8150,'UniProt Function',NULL,9873,NULL,'Guanine nucleotide exchange factor that activates RHOA and maybe the NF-kappa-B signaling pathway. Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis.',NULL,NULL,NULL,NULL,NULL),(8151,'UniProt Function',NULL,9874,NULL,'Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques.',NULL,NULL,NULL,NULL,NULL),(8152,'UniProt Function',NULL,9875,NULL,'Activates transcription in the presence of PBX1A and HOXA1.',NULL,NULL,NULL,NULL,NULL),(8153,'UniProt Function',NULL,9876,NULL,'Receptor for secretory phospholipase A2 (sPLA2). Acts as a receptor for phosholipase sPLA2-IB/PLA2G1B but not sPLA2-IIA/PLA2G2A. Also able to bind to snake PA2-like toxins. Although its precise function remains unclear, binding of sPLA2 to its receptor participates in both positive and negative regulation of sPLA2 functions as well as clearance of sPLA2. Binding of sPLA2-IB/PLA2G1B induces various effects depending on the cell type, such as activation of the mitogen-activated protein kinase (MAPK) cascade to induce cell proliferation, the production of lipid mediators, selective release of arachidonic acid in bone marrow-derived mast cells. In neutrophils, binding of sPLA2-IB/PLA2G1B can activate p38 MAPK to stimulate elastase release and cell adhesion. May be involved in responses in proinflammatory cytokine productions during endotoxic shock. Also has endocytic properties and rapidly internalizes sPLA2 ligands, which is particularly important for the clearance of extracellular sPLA2s to protect their potent enzymatic activities. The soluble secretory phospholipase A2 receptor form is circulating and acts as a negative regulator of sPLA2 functions by blocking the biological functions of sPLA2-IB/PLA2G1B.',NULL,NULL,NULL,NULL,NULL),(8154,'UniProt Function',NULL,9877,NULL,'Proposed to act as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Seems to be involved in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion (PubMed:25498145). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7 (PubMed:20943950). May have a role in sialyl-lex-mediated transduction of apoptotic signals (PubMed:12820725). Involved in bone resorption (By similarity). In case of infection contributes to Salmonella typhimurium pathogenesis by supporting the integrity of the Salmonella-containing vacuole (SCV) probably in concert with the HOPS complex and Rab7 (PubMed:25500191).',NULL,NULL,NULL,NULL,NULL),(8155,'UniProt Function',NULL,9878,NULL,'Transcription factor whose activation results in up-regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Overexpression is associated with up-regulation of IGFII, is frequently observed in hepatoblastoma, common primary liver tumor in childhood. Cooperates with CBFB-MYH11, a fusion gene important for myeloid leukemia.',NULL,NULL,NULL,NULL,NULL),(8156,'UniProt Function',NULL,9879,NULL,'The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes.',NULL,NULL,NULL,NULL,NULL),(8157,'UniProt Function',NULL,9880,NULL,'The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This phospholipase activity is very sensitive to calcium. May be important for formation and maintenance of the neuronal network in the postnatal brain (By similarity).',NULL,NULL,NULL,NULL,NULL),(8158,'UniProt Function',NULL,9881,NULL,'Shows weak transcriptional activatory activity.',NULL,NULL,NULL,NULL,NULL),(8159,'UniProt Function',NULL,9882,NULL,'Plays a role in protein ubiquitination, sorting and degradation through its association with VCP (PubMed:27753622). Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622). Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates cytosolic and calcium-independent phospholipase A2 activities in a tumor necrosis factor alpha (TNF-alpha)- or lipopolysaccharide (LPS)-dependent manner, and hence prostaglandin E2 biosynthesis (PubMed:18291623, PubMed:28007986).',NULL,NULL,NULL,NULL,NULL),(8160,'UniProt Function',NULL,9883,NULL,'Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells. Restricts the expression of neuronal genes by associating with two distinct corepressors, mSin3 and CoREST, which in turn recruit histone deacetylase to the promoters of REST-regulated genes. Mediates repression by recruiting the BHC complex at RE1/NRSE sites which acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. Transcriptional repression by REST-CDYL via the recruitment of histone methyltransferase EHMT2 may be important in transformation suppression. Key repressor of gene expression in hypoxia; represses genes in hypoxia by direct binding to an RE1/NRSE site on their promoter regions (PubMed:27531581). Negatively regulates the expression of SRRM3 in breast cancer cell lines (PubMed:26053433). Represses the expression of SRRM4 in non-neural cells to prevent the activation of neural specific splicing events (By similarity). Acts as a regulator of osteoblast differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(8161,'UniProt Function',NULL,9884,NULL,'May help orchestrate cytoskeletal arrangement. Contribute to lamellipodia formation.',NULL,NULL,NULL,NULL,NULL),(8162,'UniProt Function',NULL,9885,NULL,'IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.',NULL,NULL,NULL,NULL,NULL),(8163,'UniProt Function',NULL,9886,NULL,'Multifunctional enzyme that catalyzes a series of essential post-translational modifications on Lys residues in procollagen (PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Plays a redundant role in catalyzing the formation of hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (PubMed:9582318, PubMed:9724729, PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Plays a redundant role in catalyzing the transfer of galactose onto hydroxylysine groups, giving rise to galactosyl 5-hydroxylysine (PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Has an essential role by catalyzing the subsequent transfer of glucose moieties, giving rise to 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:10934207, PubMed:11896059, PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Catalyzes hydroxylation and glycosylation of Lys residues in the MBL1 collagen-like domain, giving rise to hydroxylysine and 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:25419660). Essential for normal biosynthesis and secretion of type IV collagens (PubMed:18834968) (Probable). Essential for normal formation of basement membranes (By similarity).',NULL,NULL,NULL,NULL,NULL),(8164,'UniProt Function',NULL,9887,NULL,'Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism.',NULL,NULL,NULL,NULL,NULL),(8165,'UniProt Function',NULL,9888,NULL,'Lipid hydrolase.',NULL,NULL,NULL,NULL,NULL),(8166,'UniProt Function',NULL,9889,NULL,'Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids.',NULL,NULL,NULL,NULL,NULL),(8167,'UniProt Function',NULL,9890,NULL,'Actin-bundling protein in the absence of calcium.',NULL,NULL,NULL,NULL,NULL),(8168,'UniProt Function',NULL,9891,NULL,'Coreceptor for SEMA3A and SEMA3F. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Regulates the migration of sympathetic neurons, but not of neural crest precursors. Required for normal dendrite spine morphology in pyramidal neurons. May play a role in regulating semaphorin-mediated programmed cell death in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm.',NULL,NULL,NULL,NULL,NULL),(8169,'UniProt Function',NULL,9894,NULL,'Catalyzes the first step in the biosynthesis of NAD from nicotinic acid, the ATP-dependent synthesis of beta-nicotinate D-ribonucleotide from nicotinate and 5-phospho-D-ribose 1-phosphate (PubMed:17604275, PubMed:21742010, PubMed:26042198). Helps prevent cellular oxidative stress via its role in NAD biosynthesis (PubMed:17604275).',NULL,NULL,NULL,NULL,NULL),(8170,'UniProt Function',NULL,9896,NULL,'Nuclear receptor coactivator. May play a role in signal transduction.',NULL,NULL,NULL,NULL,NULL),(8171,'UniProt Function',NULL,9897,NULL,'Catalytic subunit of protein phosphatase 6 (PP6). PP6 is a component of a signaling pathway regulating cell cycle progression in response to IL2 receptor stimulation. N-terminal domain restricts G1 to S phase progression in cancer cells, in part through control of cyclin D1. Downregulates MAP3K7 kinase activation of the IL1 signaling pathway by dephosphorylation of MAP3K7. Participates also in the innate immune defense against viruses by desphosphorylating RIG-I/DDX58, an essential step that triggers RIG-I/DDX58-mediated signaling activation.',NULL,NULL,NULL,NULL,NULL),(8172,'UniProt Function',NULL,9898,NULL,'Inhibits phosphatase activities of protein phosphatase 1 (PP1) and protein phosphatase 2A (PP2A) complexes.',NULL,NULL,NULL,NULL,NULL),(8173,'UniProt Function',NULL,9899,NULL,'Dephosphorylates and concomitantly deactivates CaM-kinase II activated upon autophosphorylation, and CaM-kinases IV and I activated upon phosphorylation by CaM-kinase kinase. Promotes apoptosis.',NULL,NULL,NULL,NULL,NULL),(8174,'UniProt Function',NULL,9905,NULL,'May play a role in the regulation of pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(8175,'UniProt Function',NULL,9906,NULL,'Has low, barely detectable phosphoribosyltransferase activity (in vitro). Binds GMP, IMP and alpha-D-5-phosphoribosyl 1-pyrophosphate (PRPP). Is not expected to contribute to purine metabolism or GMP salvage.',NULL,NULL,NULL,NULL,NULL),(8176,'UniProt Function',NULL,9908,NULL,'Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, but also in other nonbarrier tissues like liver and kidney, and therefore may provide immediate immunological protection against reactivating infections or viral reinfection (By similarity). Binds specifically to the PRDI element in the promoter of the beta-interferon gene (PubMed:1851123). Drives the maturation of B-lymphocytes into Ig secreting cells (PubMed:12626569). Associates with the transcriptional repressor ZNF683 to chromatin at gene promoter regions (By similarity).',NULL,NULL,NULL,NULL,NULL),(8177,'UniProt Function',NULL,9910,NULL,'May regulate cell cycle progression through interaction with MAD2L2.',NULL,NULL,NULL,NULL,NULL),(8178,'UniProt Function',NULL,9913,NULL,'Histone methyltransferase that specifically trimethylates \'Lys-4\' of histone H3 during meiotic prophase and is essential for proper meiotic progression. Does not have the ability to mono- and dimethylate \'Lys-4\' of histone H3. H3 \'Lys-4\' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes during early meiotic prophase (By similarity).',NULL,NULL,NULL,NULL,NULL),(8179,'UniProt Function',NULL,9914,NULL,'Sequence-specific DNA-binding transcriptional regulator. Plays a role as a molecular node in a transcriptional network regulating embryonic development and cell fate decision. Stimulates the expression of upstream key transcriptional activators and repressors of the Wnt/beta-catenin and MAPK/ERK pathways, respectively, that are essential for naive pluripotency and self-renewal maintenance of embryonic stem cells (ESCs). Specifically promotes SPRY1 and RSPO1 transcription activation through recognition and direct binding of a specific DNA sequence in their promoter regions. Involved in early embryo development (By similarity). Plays also a role in induced pluripotent stem cells (iPSCs) reprogramming (PubMed:28740264).',NULL,NULL,NULL,NULL,NULL),(8180,'UniProt Function',NULL,9915,NULL,'Possesses similar cytotoxic and cytostimulatory activities to PRG2/MBP. In vitro, stimulates neutrophil superoxide production and IL8 release, and histamine and leukotriene C4 release from basophils.',NULL,NULL,NULL,NULL,NULL),(8181,'UniProt Function',NULL,9916,NULL,'DNA primase and DNA polymerase able to initiate de novo DNA synthesis using dNTPs. Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA. Involved in translesion synthesis via its primase activity by mediating uninterrupted fork progression after programmed or damage-induced fork arrest and by reinitiating DNA synthesis after dNTP depletion. Required for mitochondrial DNA (mtDNA) synthesis, suggesting it may be involved in DNA tolerance during the replication of mitochondrial DNA. Has non-overlapping function with POLH.',NULL,NULL,NULL,NULL,NULL),(8182,'UniProt Function',NULL,9919,NULL,'May play a role in compensating for the inactivated X-linked gene during spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(8183,'UniProt Function',NULL,9920,NULL,'May play an important role in B-cell differentiation as well as neural development and spermatogenesis. Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene.',NULL,NULL,NULL,NULL,NULL),(8184,'UniProt Function',NULL,9921,NULL,'Adapter protein linking the transcription factors PAX3 and PAX7 to the histone methylation machinery and involved in myogenesis. Associates with a histone methyltransferase complex that specifically mediates dimethylation and trimethylation of \'Lys-4\' of histone H3. Mediates the recruitment of that complex to the transcription factors PAX3 and PAX7 on chromatin to regulate the expression of genes involved in muscle progenitor cells proliferation including ID3 and CDC20 (By similarity).',NULL,NULL,NULL,NULL,NULL),(8185,'UniProt Function',NULL,9922,NULL,'This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene. May play a role in the initiation of DNA replication and in recombination.',NULL,NULL,NULL,NULL,NULL),(8186,'UniProt Function',NULL,9925,NULL,'Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8187,'UniProt Function',NULL,9926,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8188,'UniProt Function',NULL,9927,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8189,'UniProt Function',NULL,9928,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8190,'UniProt Function',NULL,9929,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8191,'UniProt Function',NULL,9930,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8192,'UniProt Function',NULL,9931,NULL,'Component of the Polycomb group (PcG) multiprotein BCOR complex, a complex required to maintain the transcriptionally repressive state of some genes, such as BCL6 and the cyclin-dependent kinase inhibitor, CDKN1A. Transcriptional repressor that may be targeted to the DNA by BCL6; this transcription repressor activity may be related to PKC signaling pathway. Represses CDKN1A expression by binding to its promoter, and this repression is dependent on the retinoic acid response element (RARE element). Promotes cell cycle progression and enhances cell proliferation as well. May have a positive role in tumor cell growth by down-regulating CDKN1A. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). Regulates the expression of DPPA4 and NANOG in the NT2 embryonic carcinoma cells (PubMed:26687479).',NULL,NULL,NULL,NULL,NULL),(8193,'UniProt Function',NULL,9932,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8194,'UniProt Function',NULL,9933,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8195,'UniProt Function',NULL,9934,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8196,'UniProt Function',NULL,9935,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8197,'UniProt Function',NULL,9936,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8198,'UniProt Function',NULL,9937,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8199,'UniProt Function',NULL,9938,NULL,'Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5\'-AMP and 5\'-GMP, respectively.',NULL,NULL,NULL,NULL,NULL),(8200,'UniProt Function',NULL,9939,NULL,'Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. The subsequent raise in intracellular cAMP is responsible for the relaxing effect of this receptor on smooth muscle.',NULL,NULL,NULL,NULL,NULL),(8201,'UniProt Function',NULL,9940,NULL,'Binds ATP, opioids and phosphatidylethanolamine. Has lower affinity for phosphatidylinositol and phosphatidylcholine. Serine protease inhibitor which inhibits thrombin, neuropsin and chymotrypsin but not trypsin, tissue type plasminogen activator and elastase (By similarity). Inhibits the kinase activity of RAF1 by inhibiting its activation and by dissociating the RAF1/MEK complex and acting as a competitive inhibitor of MEK phosphorylation.',NULL,NULL,NULL,NULL,NULL),(8202,'UniProt Function',NULL,9940,NULL,'HCNP may be involved in the function of the presynaptic cholinergic neurons of the central nervous system. HCNP increases the production of choline acetyltransferase but not acetylcholinesterase. Seems to be mediated by a specific receptor (By similarity).',NULL,NULL,NULL,NULL,NULL),(8203,'UniProt Function',NULL,9941,NULL,'Seems to promote cellular resistance to TNF-induced apoptosis by inhibiting activation of the Raf-1/MEK/ERK pathway, JNK and phosphatidylethanolamine externalization.',NULL,NULL,NULL,NULL,NULL),(8204,'UniProt Function',NULL,9942,NULL,'Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111).',NULL,NULL,NULL,NULL,NULL),(8205,'UniProt Function',NULL,9943,NULL,'Class-III neuronal intermediate filament protein.',NULL,NULL,NULL,NULL,NULL),(8206,'UniProt Function',NULL,9944,NULL,'Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots \'circa\' (about) and \'diem\' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for \'timegivers\'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndrome and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5\'-CACGTG-3\') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. PER1 and PER2 proteins transport CRY1 and CRY2 into the nucleus with appropriate circadian timing, but also contribute directly to repression of clock-controlled target genes through interaction with several classes of RNA-binding proteins, helicases and others transcriptional repressors. PER appears to regulate circadian control of transcription by at least three different modes. First, interacts directly with the CLOCK-ARTNL/BMAL1 at the tail end of the nascent transcript peak to recruit complexes containing the SIN3-HDAC that remodel chromatin to repress transcription. Second, brings H3K9 methyltransferases such as SUV39H1 and SUV39H2 to the E-box elements of the circadian target genes, like PER2 itself or PER1. The recruitment of each repressive modifier to the DNA seems to be very precisely temporally orchestrated by the large PER complex, the deacetylases acting before than the methyltransferases. Additionally, large PER complexes are also recruited to the target genes 3\' termination site through interactions with RNA-binding proteins and helicases that may play a role in transcription termination to regulate transcription independently of CLOCK-ARTNL/BMAL1 interactions. Recruitment of large PER complexes to the elongating polymerase at PER and CRY termination sites inhibited SETX action, impeding RNA polymerase II release and thereby repressing transcriptional reinitiation. May propagate clock information to metabolic pathways via the interaction with nuclear receptors. Coactivator of PPARA and corepressor of NR1D1, binds rhythmically at the promoter of nuclear receptors target genes like ARNTL or G6PC. Directly and specifically represses PPARG proadipogenic activity by blocking PPARG recruitment to target promoters and thereby inhibiting transcriptional activation. Required for fatty acid and lipid metabolism, is involved as well in the regulation of circulating insulin levels. Plays an important role in the maintenance of cardiovascular functions through the regulation of NO and vasodilatatory prostaglandins production in aortas. Controls circadian glutamate uptake in synaptic vesicles through the regulation of VGLUT1 expression. May also be involved in the regulation of inflammatory processes. Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1 and ATF4. Negatively regulates the formation of the TIMELESS-CRY1 complex by competing with TIMELESS for binding to CRY1.',NULL,NULL,NULL,NULL,NULL),(8207,'UniProt Function',NULL,9945,NULL,'Mediates tyrosine nitration of secondary granule proteins in mature resting eosinophils. Shows significant inhibitory activity towards Mycobacterium tuberculosis H37Rv by inducing bacterial fragmentation and lysis.',NULL,NULL,NULL,NULL,NULL),(8208,'UniProt Function',NULL,9946,NULL,'Essential for sustained cell growth, maintenance of chromosomal stability, and ATR-dependent checkpoint activation upon DNA damage. Has a weak ATPase activity required for binding to chromatin. Participates in the recruitment of the RAD1-RAD9-HUS1 complex and RHNO1 onto chromatin, and in CHEK1 activation. May also serve as a sensor of DNA replication progression, and may be involved in homologous recombination.',NULL,NULL,NULL,NULL,NULL),(8209,'UniProt Function',NULL,9947,NULL,'Inhibitor of protein-phosphatase 1.',NULL,NULL,NULL,NULL,NULL),(8210,'UniProt Function',NULL,9948,NULL,'Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in hepatocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(8211,'UniProt Function',NULL,9950,NULL,'Inhibits PPP1CA phosphatase activity.',NULL,NULL,NULL,NULL,NULL),(8212,'UniProt Function',NULL,9953,NULL,'Acts as a receptor for the Gram-negative bacterium F.nucleatum.',NULL,NULL,NULL,NULL,NULL),(8213,'UniProt Function',NULL,9957,NULL,'May be involved in myeloid differentiation. May be involved in integrin signaling in neutrophils. Binds to PtdIns(4)P.',NULL,NULL,NULL,NULL,NULL),(8214,'UniProt Function',NULL,9958,NULL,'Plays a role of stimulator of transcription factors and nuclear receptors activities. Activates transcriptional activity of estrogen receptor alpha, nuclear respiratory factor 1 (NRF1) and glucocorticoid receptor in the presence of glucocorticoids. May play a role in constitutive non-adrenergic-mediated mitochondrial biogenesis as suggested by increased basal oxygen consumption and mitochondrial number when overexpressed. May be involved in fat oxidation and non-oxidative glucose metabolism and in the regulation of energy expenditure. Induces the expression of PERM1 in the skeletal muscle in an ESRRA-dependent manner.',NULL,NULL,NULL,NULL,NULL),(8215,'UniProt Function',NULL,9959,NULL,'Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane. Regulates the mitochondrial apoptotic pathway in primary Th cells. Regulates Th cell differentiation by down-regulating STAT6 thereby reducing IL-4-induced Th2 cell number. May be important for the development of vital and immunocompetent organs.',NULL,NULL,NULL,NULL,NULL),(8216,'UniProt Function',NULL,9960,NULL,'This is a receptor for the anterior pituitary hormone prolactin (PRL). Acts as a prosurvival factor for spermatozoa by inhibiting sperm capacitation through suppression of SRC kinase activation and stimulation of AKT. Isoform 4 is unable to transduce prolactin signaling. Isoform 6 is unable to transduce prolactin signaling.',NULL,NULL,NULL,NULL,NULL),(8217,'UniProt Function',NULL,9961,NULL,'Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity.',NULL,NULL,NULL,NULL,NULL),(8218,'UniProt Function',NULL,9962,NULL,'Catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin-mononucleotide (FMN), hence rate-limiting enzyme in the synthesis of FAD. Essential for TNF-induced reactive oxygen species (ROS) production. Through its interaction with both TNFRSF1A and CYBA, physically and functionally couples TNFRSF1A to NADPH oxidase. TNF-activation of RFK may enhance the incorporation of FAD in NADPH oxidase, a critical step for the assembly and activation of NADPH oxidase.',NULL,NULL,NULL,NULL,NULL),(8219,'UniProt Function',NULL,9963,NULL,'Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.',NULL,NULL,NULL,NULL,NULL),(8220,'UniProt Function',NULL,9964,NULL,'Capable of hydrolyzing lactones and a number of aromatic carboxylic acid esters. Has antioxidant activity. Is not associated with high density lipoprotein. Prevents LDL lipid peroxidation, reverses the oxidation of mildly oxidized LDL, and inhibits the ability of MM-LDL to induce monocyte chemotaxis.',NULL,NULL,NULL,NULL,NULL),(8221,'UniProt Function',NULL,9965,NULL,'Has low activity towards the organophosphate paraxon and aromatic carboxylic acid esters. Rapidly hydrolyzes lactones such as statin prodrugs (e.g. lovastatin). Hydrolyzes aromatic lactones and 5- or 6-member ring lactones with aliphatic substituents but not simple lactones or those with polar substituents.',NULL,NULL,NULL,NULL,NULL),(8222,'UniProt Function',NULL,9966,NULL,'Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5\'-ends. Also a component of RNase MRP.',NULL,NULL,NULL,NULL,NULL),(8223,'UniProt Function',NULL,9967,NULL,'May serve as a molecular marker for or play a role in the malignant progression of glioblastomas.',NULL,NULL,NULL,NULL,NULL),(8224,'UniProt Function',NULL,9968,NULL,'PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding.',NULL,NULL,NULL,NULL,NULL),(8225,'UniProt Function',NULL,9969,NULL,'PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding.',NULL,NULL,NULL,NULL,NULL),(8226,'UniProt Function',NULL,9970,NULL,'PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:11350175, PubMed:20676357). Proposed to act as a co-chaperone in HSP90 complexes such as in unligated steroid receptors heterocomplexes. Different co-chaperones seem to compete for association with HSP90 thus establishing distinct HSP90-co-chaperone-receptor complexes with the potential to exert tissue-specific receptor activity control. May have a preference for estrogen receptor complexes and is not found in glucocorticoid receptor complexes. May be involved in cytoplasmic dynein-dependent movement of the receptor from the cytoplasm to the nucleus. May regulate MYB by inhibiting its DNA-binding activity. Involved in regulation of AHR signaling by promoting the formation of the AHR:ARNT dimer; the function is independent of HSP90 but requires the chaperone activity. Involved in regulation of UV radiation-induced apoptosis. Promotes cell viability in anaplastic lymphoma kinase-positive anaplastic large-cell lymphoma (ALK+ ALCL) cell lines.',NULL,NULL,NULL,NULL,NULL),(8227,'UniProt Function',NULL,9970,NULL,'(Microbial infection) May be involved in hepatitis C virus (HCV) replication and release.',NULL,NULL,NULL,NULL,NULL),(8228,'UniProt Function',NULL,9971,NULL,'May increase cell susceptibility to TNF-induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(8229,'UniProt Function',NULL,9972,NULL,'Regulates phosphatase activity of protein phosphatase 1 (PP1) complexes in the testis.',NULL,NULL,NULL,NULL,NULL),(8230,'UniProt Function',NULL,9973,NULL,'Tissue-specific DNA-binding transcription factor involved in the development and differentiation of target cells (PubMed:19266028, PubMed:23805044). Functions either as activator or repressor modulating the rate of target gene transcription through RNA polymerase II enzyme in a promoter-dependent manner (PubMed:19266028, PubMed:23805044). Binds to the consensus octamer motif 5\'-AT[A/T]A[T/A]T[A/T]A-3\' of promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Binds to an octamer site to form a ternary complex with ISL1; cooperates positively with ISL1 and ISL2 to potentiate transcriptional activation of RGC target genes being involved in RGC fate commitment in the developing retina and RGC axon formation and pathfinding. Inhibits DLX1 and DLX2 transcriptional activities preventing DLX1- and DLX2-mediated ability to promote amacrine cell fate specification. In cooperation with TP53 potentiates transcriptional activation of BAX promoter activity increasing neuronal cell apoptosis. Negatively regulates BAX promoter activity in the absence of TP53. Acts as a transcriptional coactivator via its interaction with the transcription factor ESR1 by enhancing its effect on estrogen response element (ERE)-containing promoter. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to an octamer motif. Involved in TNFSF11-mediated terminal osteoclast differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(8231,'UniProt Function',NULL,9974,NULL,'Transcription factor that binds preferentially to the octamer motif (5\'-ATGTTAAT-3\'). May exert a regulatory function in meiotic events that are required for terminal differentiation of male germ cell (By similarity).',NULL,NULL,NULL,NULL,NULL),(8232,'UniProt Function',NULL,9975,NULL,'Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis.',NULL,NULL,NULL,NULL,NULL),(8233,'UniProt Function',NULL,9977,NULL,'Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Regulates the activation of NF-kappa-B in the cytosol by a modulation of I-kappa-B-alpha phosphorylation.',NULL,NULL,NULL,NULL,NULL),(8234,'UniProt Function',NULL,9980,NULL,'The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Depending on the isoform, progesterone receptor functions as transcriptional activator or repressor.',NULL,NULL,NULL,NULL,NULL),(8235,'UniProt Function',NULL,9980,NULL,'Isoform A: Ligand-dependent transdominant repressor of steroid hormone receptor transcriptional activity including repression of its isoform B, MR and ER. Transrepressional activity may involve recruitment of corepressor NCOR2.',NULL,NULL,NULL,NULL,NULL),(8236,'UniProt Function',NULL,9980,NULL,'Isoform B: Transcriptional activator of several progesteron-dependent promoters in a variety of cell types. Involved in activation of SRC-dependent MAPK signaling on hormone stimulation.',NULL,NULL,NULL,NULL,NULL),(8237,'UniProt Function',NULL,9980,NULL,'Isoform 4: Increases mitochondrial membrane potential and cellular respiration upon stimulation by progesterone.',NULL,NULL,NULL,NULL,NULL),(8238,'UniProt Function',NULL,9981,NULL,'Probable histone methyltransferase, preferentially acting on \'Lys-9\' of histone H3 (By similarity). Involved in the control of steroidogenesis through transcriptional repression of steroidogenesis marker genes such as CYP17A1 and LHCGR (By similarity). Forms with BHLHE22 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation (By similarity). In the retina, it is required for rod bipolar and type 2 OFF-cone bipolar cell survival (By similarity).',NULL,NULL,NULL,NULL,NULL),(8239,'UniProt Function',NULL,9982,NULL,'Transcription factor that has both positive and negative roles on transcription. Required for the maintenance of emryonic stem cell identity and the reacquisition of pluripotency in somatic cells. May play an essential role in germ cell development at 2 levels: the reacquisition of potential pluripotency, including SOX2 up-regulation, and successful epigenetic reprogramming, characterized by EHMT1 repression. Its association with CBFA2T2 is required for the functions in pluripotency and germ cell formation (By similarity). Directly up-regulates the expression of pluripotency gene POU5F1 through its proximal enhancer. Binds to the DNA consensus sequence 5\'-GGTC[TC]CTAA-3\'.',NULL,NULL,NULL,NULL,NULL),(8240,'UniProt Function',NULL,9983,NULL,'DNA primase is the polymerase that synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication.',NULL,NULL,NULL,NULL,NULL),(8241,'UniProt Function',NULL,9985,NULL,'Plays a role in boundary lubrication within articulating joints. Prevents protein deposition onto cartilage from synovial fluid by controlling adhesion-dependent synovial growth and inhibiting the adhesion of synovial cells to the cartilage surface.',NULL,NULL,NULL,NULL,NULL),(8242,'UniProt Function',NULL,9985,NULL,'Isoform F plays a role as a growth factor acting on the primitive cells of both hematopoietic and endothelial cell lineages.',NULL,NULL,NULL,NULL,NULL),(8243,'UniProt Function',NULL,9987,NULL,'Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.',NULL,NULL,NULL,NULL,NULL),(8244,'UniProt Function',NULL,9989,NULL,'Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity.',NULL,NULL,NULL,NULL,NULL),(8245,'UniProt Function',NULL,9990,NULL,'Receptor for SEMA7A, for smallpox semaphorin A39R, vaccinia virus semaphorin A39R and for herpesvirus Sema protein. Binding of semaphorins triggers cellular responses leading to the rearrangement of the cytoskeleton and to secretion of IL6 and IL8 (By similarity).',NULL,NULL,NULL,NULL,NULL),(8246,'UniProt Function',NULL,9991,NULL,'Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYVE9/SARA recruits the intracellular signal transducer and transcriptional modulators SMAD2 and SMAD3 to the TGF-beta receptor. Phosphorylated by the receptor, SMAD2 and SMAD3 then form a heteromeric complex with SMAD4 that translocates to the nucleus to regulate transcription. Through interaction with SMAD2 and SMAD3, LDLRAD4 may compete with ZFYVE9 and SMAD4 and prevent propagation of the intracellular signal (PubMed:20129061, PubMed:24627487). Also involved in down-regulation of the androgen receptor (AR), enhancing ubiquitination and proteasome-mediated degradation of AR, probably by recruiting NEDD4 (PubMed:18703514).',NULL,NULL,NULL,NULL,NULL),(8247,'UniProt Function',NULL,9992,NULL,'Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins (PubMed:11709191, PubMed:27493216). Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties (PubMed:11709191, PubMed:27493216). Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.',NULL,NULL,NULL,NULL,NULL),(8248,'UniProt Function',NULL,9994,NULL,'O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.',NULL,NULL,NULL,NULL,NULL),(8249,'UniProt Function',NULL,9997,NULL,'Functions via its association with PML-nuclear bodies (PML-NBs) in a wide range of important cellular processes, including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. Acts as the scaffold of PML-NBs allowing other proteins to shuttle in and out, a process which is regulated by SUMO-mediated modifications and interactions. Isoform PML-4 has a multifaceted role in the regulation of apoptosis and growth suppression: activates RB1 and inhibits AKT1 via interactions with PP1 and PP2A phosphatases respectively, negatively affects the PI3K pathway by inhibiting MTOR and activating PTEN, and positively regulates p53/TP53 by acting at different levels (by promoting its acetylation and phosphorylation and by inhibiting its MDM2-dependent degradation). Isoform PML-4 also: acts as a transcriptional repressor of TBX2 during cellular senescence and the repression is dependent on a functional RBL2/E2F4 repressor complex, regulates double-strand break repair in gamma-irradiation-induced DNA damage responses via its interaction with WRN, acts as a negative regulator of telomerase by interacting with TERT, and regulates PER2 nuclear localization and circadian function. Isoform PML-6 inhibits specifically the activity of the tetrameric form of PKM. The nuclear isoforms (isoform PML-1, isoform PML-2, isoform PML-3, isoform PML-4 and isoform PML-5) in concert with SATB1 are involved in local chromatin-loop remodeling and gene expression regulation at the MHC-I locus. Isoform PML-2 is required for efficient IFN-gamma induced MHC II gene transcription via regulation of CIITA. Cytoplasmic PML is involved in the regulation of the TGF-beta signaling pathway. PML also regulates transcription activity of ELF4 and can act as an important mediator for TNF-alpha- and IFN-alpha-mediated inhibition of endothelial cell network formation and migration.',NULL,NULL,NULL,NULL,NULL),(8250,'UniProt Function',NULL,9997,NULL,'Exhibits antiviral activity against both DNA and RNA viruses. The antiviral activity can involve one or several isoform(s) and can be enhanced by the permanent PML-NB-associated protein DAXX or by the recruitment of p53/TP53 within these structures. Isoform PML-4 restricts varicella zoster virus (VZV) via sequestration of virion capsids in PML-NBs thereby preventing their nuclear egress and inhibiting formation of infectious virus particles. The sumoylated isoform PML-4 restricts rabies virus by inhibiting viral mRNA and protein synthesis. The cytoplasmic isoform PML-14 can restrict herpes simplex virus-1 (HHV-1) replication by sequestering the viral E3 ubiquitin-protein ligase ICP0 in the cytoplasm. Isoform PML-6 shows restriction activity towards human cytomegalovirus (HCMV) and influenza A virus strains PR8(H1N1) and ST364(H3N2). Sumoylated isoform PML-4 and isoform PML-12 show antiviral activity against encephalomyocarditis virus (EMCV) by promoting nuclear sequestration of viral polymerase (P3D-POL) within PML NBs. Isoform PML-3 exhibits antiviral activity against poliovirus by inducing apoptosis in infected cells through the recruitment and the activation of p53/TP53 in the PML-NBs. Isoform PML-3 represses human foamy virus (HFV) transcription by complexing the HFV transactivator, bel1/tas, preventing its binding to viral DNA. PML may positively regulate infectious hepatitis C viral (HCV) production and isoform PML-2 may enhance adenovirus transcription.',NULL,NULL,NULL,NULL,NULL),(8251,'UniProt Function',NULL,9998,NULL,'Acts as a transcriptional activator (PubMed:18228599). Acts by binding to sequences related to the consensus octamer motif 5\'-ATGCAAAT-3\' in the regulatory regions of its target genes (PubMed:18228599). Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity).',NULL,NULL,NULL,NULL,NULL),(8252,'UniProt Function',NULL,9999,NULL,'Serine protease. Hydrolyzes the peptides N-t-Boc-Gln-Ala-Arg-AMC and N-t-Boc-Gln-Gly-Arg-AMC and, to a lesser extent, N-t-Boc-Ala-Phe-Lys-AMC and N-t-Boc-Val-Leu-Lys-AMC. Has a preference for substrates with an Arg instead of a Lys residue in position P1.',NULL,NULL,NULL,NULL,NULL),(8253,'UniProt Function',NULL,10000,NULL,'Dephosphorylates CDKN1B at \'Thr-187\', thus removing a signal for proteasomal degradation.',NULL,NULL,NULL,NULL,NULL),(8254,'UniProt Function',NULL,10002,NULL,'Removes 5-oxoproline from various penultimate amino acid residues except L-proline.',NULL,NULL,NULL,NULL,NULL),(8255,'UniProt Function',NULL,10003,NULL,'Oxidoreductase with strong preference for NAD. Active in both the oxidative and reductive directions. Oxidizes all-trans-retinol in all-trans-retinaldehyde. No activity was detected with 11-cis-retinol or 11-cis-retinaldehyde as substrates with either NAD(+)/NADH or NADP(+)/NADPH.',NULL,NULL,NULL,NULL,NULL),(8256,'UniProt Function',NULL,10004,NULL,'Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin.',NULL,NULL,NULL,NULL,NULL),(8257,'UniProt Function',NULL,10005,NULL,'May play a role in membrane trafficking, specifically in membrane budding reactions.',NULL,NULL,NULL,NULL,NULL),(8258,'UniProt Function',NULL,10006,NULL,'Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53/TP53 pathway, the Wnt pathway and the steroid hormone signaling pathway. Involved in gene silencing. Mediates sumoylation of CEBPA, PARK7, HERC2, MYB, TCF4 and RNF168. In Wnt signaling, represses LEF1 and enhances TCF4 transcriptional activities through promoting their sumoylations. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation.',NULL,NULL,NULL,NULL,NULL),(8259,'UniProt Function',NULL,10008,NULL,'Assembly protein recruiting clathrin and adapter protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. May be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. Involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction.',NULL,NULL,NULL,NULL,NULL),(8260,'UniProt Function',NULL,10009,NULL,'Its interaction with PHYH suggests a role in the development of the central system.',NULL,NULL,NULL,NULL,NULL),(8261,'UniProt Function',NULL,10010,NULL,'Catalyzes the phosphorylation of phosphatidylinositol 5-phosphate (PtdIns5P) on the fourth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May exert its function by regulating the levels of PtdIns5P, which functions in the cytosol by increasing AKT activity and in the nucleus signals through ING2. May regulate the pool of cytosolic PtdIns5P in response to the activation of tyrosine phosphorylation. May negatively regulate insulin-stimulated glucose uptake by lowering the levels of PtdIns5P. May be involved in thrombopoiesis, and the terminal maturation of megakaryocytes and regulation of their size.',NULL,NULL,NULL,NULL,NULL),(8262,'UniProt Function',NULL,10012,NULL,'Regulates RHOA activity, and plays a role in cytoskeleton remodeling. Necessary for normal completion of cytokinesis. Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus. Binds phosphatidyl inositol phosphates (in vitro). May catalyze the transfer of phosphatidylinositol and phosphatidylcholine between membranes (By similarity). Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus. Required for protein export from the endoplasmic reticulum and the Golgi. Binds calcium ions.',NULL,NULL,NULL,NULL,NULL),(8263,'UniProt Function',NULL,10013,NULL,'Isoform 1 is involved as a ribosomal RNA processing factor in ribosome biogenesis. Binds to tightly bent AT-rich stretches of double-stranded DNA.',NULL,NULL,NULL,NULL,NULL),(8264,'UniProt Function',NULL,10013,NULL,'Isoform 2 binds to double-stranded DNA.',NULL,NULL,NULL,NULL,NULL),(8265,'UniProt Function',NULL,10014,NULL,'Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb.',NULL,NULL,NULL,NULL,NULL),(8266,'UniProt Function',NULL,10015,NULL,'Has E2-dependent E3 ubiquitin-protein ligase activity. Ubiquitinates MAGED1 antigen leading to its subsequent degradation by proteasome (By similarity). May be involved in protein sorting.',NULL,NULL,NULL,NULL,NULL),(8267,'UniProt Function',NULL,10016,NULL,'Essential in the activity of auditory pathway neurons.',NULL,NULL,NULL,NULL,NULL),(8268,'UniProt Function',NULL,10017,NULL,'Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning.',NULL,NULL,NULL,NULL,NULL),(8269,'UniProt Function',NULL,10018,NULL,'Component of a calcium channel. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect.',NULL,NULL,NULL,NULL,NULL),(8270,'UniProt Function',NULL,10020,NULL,'Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(8271,'UniProt Function',NULL,10021,NULL,'Involved in Golgi to cell surface membrane traffic. Induces membrane tubulation. Binds preferentially to phosphatidylinositol 4-phosphate (PtdIns4P).',NULL,NULL,NULL,NULL,NULL),(8272,'UniProt Function',NULL,10022,NULL,'Membrane-associated phospholipase. Exhibits a calcium-independent broad substrate specificity including phospholipase A2/lysophospholipase activity. Preferential hydrolysis at the sn-2 position of diacylphospholipids and diacyglycerol, whereas it shows no positional specificity toward triacylglycerol. Exhibits also esterase activity toward p-nitrophenyl. May act on the brush border membrane to facilitate the absorption of digested lipids (By similarity).',NULL,NULL,NULL,NULL,NULL),(8273,'UniProt Function',NULL,10024,NULL,'Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Both PKD1 and PKD2 are required for channel activity (PubMed:27214281). Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions.',NULL,NULL,NULL,NULL,NULL),(8274,'UniProt Function',NULL,10025,NULL,'The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Essential for trophoblast and placental development.',NULL,NULL,NULL,NULL,NULL),(8275,'UniProt Function',NULL,10026,NULL,'Cytoplasmic retinol-binding protein (PubMed:22665496, PubMed:26900151, PubMed:28057518). Accepts retinol from the transport protein STRA6, and thereby contributes to retinol uptake, storage and retinoid homeostasis (PubMed:15632377, PubMed:22665496).',NULL,NULL,NULL,NULL,NULL),(8276,'UniProt Function',NULL,10027,NULL,'Serine/threonine-protein kinase involved in cell cycle regulation, response to stress and Golgi disassembly. Polo-like kinases act by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates ATF2, BCL2L1, CDC25A, CDC25C, CHEK2, HIF1A, JUN, p53/TP53, p73/TP73, PTEN, TOP2A and VRK1. Involved in cell cycle regulation: required for entry into S phase and cytokinesis. Phosphorylates BCL2L1, leading to regulate the G2 checkpoint and progression to cytokinesis during mitosis. Plays a key role in response to stress: rapidly activated upon stress stimulation, such as ionizing radiation, reactive oxygen species (ROS), hyperosmotic stress, UV irradiation and hypoxia. Involved in DNA damage response and G1/S transition checkpoint by phosphorylating CDC25A, p53/TP53 and p73/TP73. Phosphorylates p53/TP53 in response to reactive oxygen species (ROS), thereby promoting p53/TP53-mediated apoptosis. Phosphorylates CHEK2 in response to DNA damage, promoting the G2/M transition checkpoint. Phosphorylates the transcription factor p73/TP73 in response to DNA damage, leading to inhibit p73/TP73-mediated transcriptional activation and pro-apoptotic functions. Phosphorylates HIF1A and JUN is response to hypoxia. Phosphorylates ATF2 following hyperosmotic stress in corneal epithelium. Also involved in Golgi disassembly during the cell cycle: part of a MEK1/MAP2K1-dependent pathway that induces Golgi fragmentation during mitosis by mediating phosphorylation of VRK1. May participate in endomitotic cell cycle, a form of mitosis in which both karyokinesis and cytokinesis are interrupted and is a hallmark of megakaryocyte differentiation, via its interaction with CIB1.',NULL,NULL,NULL,NULL,NULL),(8277,'UniProt Function',NULL,10028,NULL,'Phosphatase that dephosphorylates presqualene diphosphate (PSDP) into presqualene monophosphate (PSMP), suggesting that it may be indirectly involved in innate immunity. PSDP is a bioactive lipid that rapidly remodels to presqualene monophosphate PSMP upon cell activation. Displays diphosphate phosphatase activity with a substrate preference for PSDP > FDP > phosphatidic acid.',NULL,NULL,NULL,NULL,NULL),(8278,'UniProt Function',NULL,10029,NULL,'Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.',NULL,NULL,NULL,NULL,NULL),(8279,'UniProt Function',NULL,10030,NULL,'Actin-bundling protein found in intestinal microvilli, hair cell stereocilia, and fibroblast filopodia. May play a role in the regulation of bone development.',NULL,NULL,NULL,NULL,NULL),(8280,'UniProt Function',NULL,10031,NULL,'Involved in the formation of stomatal and fenestral diaphragms of caveolae. May function in microvascular permeability.',NULL,NULL,NULL,NULL,NULL),(8281,'UniProt Function',NULL,10032,NULL,'Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain.',NULL,NULL,NULL,NULL,NULL),(8282,'UniProt Function',NULL,10034,NULL,'Receptor for SEMA4D. Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration.',NULL,NULL,NULL,NULL,NULL),(8283,'UniProt Function',NULL,10035,NULL,'Cell surface receptor for SEMA4C, SEMA4D and SEMA4G that plays an important role in cell-cell signaling. Binding to class 4 semaphorins promotes downstream activation of RHOA and phosphorylation of ERBB2 at \'Tyr-1248\'. Required for normal differentiation and migration of neuronal cells during brain corticogenesis and for normal embryonic brain development. Regulates the migration of cerebellar granule cells in the developing brain. Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. May modulate the activity of RAC1 and CDC42. Down-regulates macrophage migration in wound-healing assays (in vitro) (By similarity).',NULL,NULL,NULL,NULL,NULL),(8284,'UniProt Function',NULL,10036,NULL,'Probably involved in the repair of mismatches in DNA.',NULL,NULL,NULL,NULL,NULL),(8285,'UniProt Function',NULL,10037,NULL,'Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways. Through its two catalytic activities, PNK ensures that DNA termini are compatible with extension and ligation by either removing 3\'-phosphates from, or by phosphorylating 5\'-hydroxyl groups on, the ribose sugar of the DNA backbone.',NULL,NULL,NULL,NULL,NULL),(8286,'UniProt Function',NULL,10038,NULL,'PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Involved in regulation of the mitochondrial permeability transition pore (mPTP). It is proposed that its association with the mPTP is masking a binding site for inhibiting inorganic phosphate (Pi) and promotes the open probability of the mPTP leading to apoptosis or necrosis; the requirement of the PPIase activity for this function is debated. In cooperation with mitochondrial TP53 is involved in activating oxidative stress-induced necrosis. Involved in modulation of mitochondrial membrane F(1)F(0) ATP synthase activity and regulation of mitochondrial matrix adenine nucleotide levels. Has anti-apoptotic activity independently of mPTP and in cooperation with BCL2 inhibits cytochrome c-dependent apoptosis.',NULL,NULL,NULL,NULL,NULL),(8287,'UniProt Function',NULL,10039,NULL,'PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome. May act as a chaperone.',NULL,NULL,NULL,NULL,NULL),(8288,'UniProt Function',NULL,10040,NULL,'Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:12438418, PubMed:14654001, PubMed:15062103, PubMed:15235793, PubMed:15239953, PubMed:15548592, PubMed:17535814). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:15548592). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020).',NULL,NULL,NULL,NULL,NULL),(8289,'UniProt Function',NULL,10041,NULL,'May catalyze the hydrolysis of nucleoside triphosphates including dGTP, dTTP, dCTP, their oxidized forms like 8-oxo-dGTP and the prodrug thiopurine derivatives 6-thio-dGTP and 6-thio-GTP (PubMed:26238318). Could also catalyze the hydrolysis of some nucleoside diphosphate derivatives (PubMed:22556419, PubMed:26238318). Hydrolyzes oxidized nucleosides triphosphates like 8-oxo-dGTP in vitro, but the specificity and efficiency towards these substrates are low. Therefore, the potential in vivo sanitizing role of this enzyme, that would consist in removing oxidatively damaged forms of nucleosides to prevent their incorporation into DNA, is unclear (PubMed:26238318, PubMed:22556419). Through the hydrolysis of thioguanosine triphosphates may participate in the catabolism of thiopurine drugs (PubMed:26238318, PubMed:25108385). May also have a role in DNA synthesis and cell cycle progression by stabilizing PCNA (PubMed:19419956).',NULL,NULL,NULL,NULL,NULL),(8290,'UniProt Function',NULL,10042,NULL,'Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the onset of neurogenesis. Also involved postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity. May also mediate local repair of brain ventricular wall damage.',NULL,NULL,NULL,NULL,NULL),(8291,'UniProt Function',NULL,10043,NULL,'Coenzyme A diphosphatase that mediates the hydrolysis of a wide range of CoA esters, including choloyl-CoA and branched-chain fatty-acyl-CoA esters. At low substrate concentrations medium and long-chain fatty-acyl-CoA esters are the primary substrates (By similarity).',NULL,NULL,NULL,NULL,NULL),(8292,'UniProt Function',NULL,10044,NULL,'Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins. Negatively regulates cilium formation and structure.',NULL,NULL,NULL,NULL,NULL),(8293,'UniProt Function',NULL,10045,NULL,'Binds the poly(A) tail of mRNA, including that of its own transcript. May be involved in cytoplasmic regulatory processes of mRNA metabolism such as pre-mRNA splicing. Its function in translational initiation regulation can either be enhanced by PAIP1 or repressed by PAIP2. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo. Involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. Involved in regulation of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons; for the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed. By binding to long poly(A) tails, may protect them from uridylation by ZCCHC6/ZCCHC11 and hence contribute to mRNA stability (PubMed:25480299). Positively regulates the replication of dengue virus (DENV) (PubMed:26735137).',NULL,NULL,NULL,NULL,NULL),(8294,'UniProt Function',NULL,10047,NULL,'Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5\'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3\'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway. May have a important role in skeletogenesis during postnatal growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(8295,'UniProt Function',NULL,10048,NULL,'Adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(8296,'UniProt Function',NULL,10049,NULL,'Possesses ADP-ribosyltransferase activity (PubMed:16061477, PubMed:25635049). Transcriptional repressor (PubMed:16061477).',NULL,NULL,NULL,NULL,NULL),(8297,'UniProt Function',NULL,10050,NULL,'Required for the control of apoptosis during postnatal growth. Essential for proteolytic processing of an antiapoptotic form of OPA1 which prevents the release of mitochondrial cytochrome c in response to intrinsic apoptoptic signals (By similarity). Promotes changes in mitochondria morphology regulated by phosphorylation of P-beta domain.',NULL,NULL,NULL,NULL,NULL),(8298,'UniProt Function',NULL,10051,NULL,'Regulator of pre-B-cell leukemia transcription factors (BPXs) function. Inhibits the binding of PBX1-HOX complex to DNA and blocks the transcriptional activity of E2A-PBX1. Tethers estrogen receptor-alpha (ESR1) to microtubules and allows them to influence estrogen receptors-alpha signaling.',NULL,NULL,NULL,NULL,NULL),(8299,'UniProt Function',NULL,10052,NULL,'Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. In case of infection by poliovirus, plays a role in initiation of viral RNA replication in concert with the viral protein 3CD (PubMed:12414943).',NULL,NULL,NULL,NULL,NULL),(8300,'UniProt Function',NULL,10053,NULL,'Potential calcium-dependent cell-adhesion protein.',NULL,NULL,NULL,NULL,NULL),(8301,'UniProt Function',NULL,10054,NULL,'Potential calcium-dependent cell-adhesion protein.',NULL,NULL,NULL,NULL,NULL),(8302,'UniProt Function',NULL,10055,NULL,'Calcium-dependent cell-adhesion protein.',NULL,NULL,NULL,NULL,NULL),(8303,'UniProt Function',NULL,10056,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8304,'UniProt Function',NULL,10058,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8305,'UniProt Function',NULL,10059,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8306,'UniProt Function',NULL,10060,NULL,'Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome.',NULL,NULL,NULL,NULL,NULL),(8307,'UniProt Function',NULL,10061,NULL,'Binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1.',NULL,NULL,NULL,NULL,NULL),(8308,'UniProt Function',NULL,10063,NULL,'Probable oxidoreductase.',NULL,NULL,NULL,NULL,NULL),(8309,'UniProt Function',NULL,10064,NULL,'Catalyzes the methyl esterification of L-isoaspartyl and D-aspartyl residues in peptides and proteins that result from spontaneous decomposition of normal L-aspartyl and L-asparaginyl residues. It plays a role in the repair and/or degradation of damaged proteins. Acts on EIF4EBP2, microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin carboxyl-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein and alpha-synuclein.',NULL,NULL,NULL,NULL,NULL),(8310,'UniProt Function',NULL,10065,NULL,'Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRA is thought to act as a cellular signaling inhibitory receptor by recruiting cytoplasmic phosphatases like PTPN6/SHP-1 and PTPN11/SHP-2 via their SH2 domains that block signal transduction through dephosphorylation of signaling molecules. Receptor for PIANP.',NULL,NULL,NULL,NULL,NULL),(8311,'UniProt Function',NULL,10065,NULL,'(Microbial infection) Acts as an entry co-receptor for herpes simplex virus 1.',NULL,NULL,NULL,NULL,NULL),(8312,'UniProt Function',NULL,10066,NULL,'May act as a scaffold to localize and regulate type I PI(4)P 5-kinases to specific compartments within the cell, where they generate PI(4,5)P2 for actin nucleation, signaling and scaffold protein recruitment and conversion to PI(3,4,5)P3.',NULL,NULL,NULL,NULL,NULL),(8313,'UniProt Function',NULL,10067,NULL,'Peptidyl-prolyl cis/trans isomerase (PPIase) that binds to and isomerizes specific phosphorylated Ser/Thr-Pro (pSer/Thr-Pro) motifs. By inducing conformational changes in a subset of phosphorylated proteins, acts as a molecular switch in multiple cellular processes (PubMed:21497122, PubMed:22033920, Ref. 21). Displays a preference for acidic residues located N-terminally to the proline bond to be isomerized. Regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Down-regulates kinase activity of BTK (PubMed:16644721). Can transactivate multiple oncogenes and induce centrosome amplification, chromosome instability and cell transformation. Required for the efficient dephosphorylation and recycling of RAF1 after mitogen activation (PubMed:15664191). Binds and targets PML and BCL6 for degradation in a phosphorylation-dependent manner (PubMed:17828269). Acts as a regulator of JNK cascade by binding to phosphorylated FBXW7, disrupting FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation: degradation of FBXW7 leads to subsequent stabilization of JUN (PubMed:22608923). May facilitate the ubiquitination and proteasomal degradation of RBBP8/CtIP through CUL3/KLHL15 E3 ubiquitin-protein ligase complex, hence favors DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:23623683, PubMed:27561354).',NULL,NULL,NULL,NULL,NULL),(8314,'UniProt Function',NULL,10069,NULL,'Transcriptional coregulator of NF-kappa-B which facilitates binding of NF-kappa-B proteins to target kappa-B genes in a redox-state-dependent manner. May be required for efficient terminal myeloid maturation of hematopoietic cells. Has quercetin 2,3-dioxygenase activity (in vitro).',NULL,NULL,NULL,NULL,NULL),(8315,'UniProt Function',NULL,10070,NULL,'Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.',NULL,NULL,NULL,NULL,NULL),(8316,'UniProt Function',NULL,10071,NULL,'Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes.',NULL,NULL,NULL,NULL,NULL),(8317,'UniProt Function',NULL,10072,NULL,'Has negligible PIP5 kinase activity. Binds to ubiquitinated proteins.',NULL,NULL,NULL,NULL,NULL),(8318,'UniProt Function',NULL,10074,NULL,'Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity).',NULL,NULL,NULL,NULL,NULL),(8319,'UniProt Function',NULL,10075,NULL,'Cargo transport protein that is required for apical transport from the Golgi complex. Transports AQP2 from the trans-Golgi network (TGN) to sites of AQP2 phosphorylation. Mediates the non-vesicular transport of glucosylceramide (GlcCer) from the trans-Golgi network (TGN) to the plasma membrane and plays a pivotal role in the synthesis of complex glycosphingolipids. Binding of both phosphatidylinositol 4-phosphate (PIP) and ARF1 are essential for the GlcCer transfer ability. Also required for primary cilium formation, possibly by being involved in the transport of raft lipids to the apical membrane, and for membrane tubulation.',NULL,NULL,NULL,NULL,NULL),(8320,'UniProt Function',NULL,10076,NULL,'May play a role in the regulation of conventional kinesin activity. Required for maintenance of the Golgi apparatus organization. May play a role in membrane tubulation (PubMed:15905402). May play a role in lysosomes movement and localization at the cell periphery (PubMed:25898167).',NULL,NULL,NULL,NULL,NULL),(8321,'UniProt Function',NULL,10077,NULL,'Has E2-dependent E3 ubiquitin-protein ligase activity. Responsible for ubiquitination of cAMP-dependent protein kinase type I and type II-alpha/beta regulatory subunits and for targeting them for proteasomal degradation. Essential for PKA-mediated long-term memory processes. Through the ubiquitination of MFHAS1, positively regulates the TLR2 signaling pathway that leads to the activation of the downstream p38 and JNK MAP kinases and promotes the polarization of macrophages toward the pro-inflammatory M1 phenotype (PubMed:28471450).',NULL,NULL,NULL,NULL,NULL),(8322,'UniProt Function',NULL,10078,NULL,'May function as a subunit of a cation channel and play a role in fertilization.',NULL,NULL,NULL,NULL,NULL),(8323,'UniProt Function',NULL,10080,NULL,'May function as an ion-channel regulator. May function as a G-protein-coupled receptor.',NULL,NULL,NULL,NULL,NULL),(8324,'UniProt Function',NULL,10081,NULL,'Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.',NULL,NULL,NULL,NULL,NULL),(8325,'UniProt Function',NULL,10082,NULL,'PKC-related serine/threonine-protein kinase involved in various processes such as regulation of the intermediate filaments of the actin cytoskeleton, cell migration, tumor cell invasion and transcription regulation. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Regulates the cytoskeletal network by phosphorylating proteins such as VIM and neurofilament proteins NEFH, NEFL and NEFM, leading to inhibit their polymerization. Phosphorylates \'Ser-575\', \'Ser-637\' and \'Ser-669\' of MAPT/Tau, lowering its ability to bind to microtubules, resulting in disruption of tubulin assembly. Acts as a key coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and specifically mediating phosphorylation of \'Thr-11\' of histone H3 (H3T11ph), a specific tag for epigenetic transcriptional activation that promotes demethylation of histone H3 \'Lys-9\' (H3K9me) by KDM4C/JMJD2C. Phosphorylates HDAC5, HDAC7 and HDAC9, leading to impair their import in the nucleus. Phosphorylates \'Thr-38\' of PPP1R14A, \'Ser-159\', \'Ser-163\' and \'Ser-170\' of MARCKS, and GFAP. Able to phosphorylate RPS6 in vitro.',NULL,NULL,NULL,NULL,NULL),(8326,'UniProt Function',NULL,10083,NULL,'Guanine nucleotide exchange factor activating the small GTPase RHOA, which, in turn, induces myosin filament formation. Also activates RHOG. Does not activate RAC1, or to a much lower extent than RHOA and RHOG. Part of a functional unit, involving PLEKHG6, MYH10 and RHOA, at the cleavage furrow to advance furrow ingression during cytokinesis. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with EZR, required for normal macropinocytosis.',NULL,NULL,NULL,NULL,NULL),(8327,'UniProt Function',NULL,10084,NULL,'Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(8328,'UniProt Function',NULL,10085,NULL,'Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.',NULL,NULL,NULL,NULL,NULL),(8329,'UniProt Function',NULL,10086,NULL,'Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone.',NULL,NULL,NULL,NULL,NULL),(8330,'UniProt Function',NULL,10087,NULL,'May be involved in APP processing.',NULL,NULL,NULL,NULL,NULL),(8331,'UniProt Function',NULL,10088,NULL,'Putative phospholipase.',NULL,NULL,NULL,NULL,NULL),(8332,'UniProt Function',NULL,10090,NULL,'May be involved in development and maintenance of adipose tissue.',NULL,NULL,NULL,NULL,NULL),(8333,'UniProt Function',NULL,10091,NULL,'Major protein kinase C substrate of platelets.',NULL,NULL,NULL,NULL,NULL),(8334,'UniProt Function',NULL,10092,NULL,'Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (PubMed:8621606, PubMed:10686424, PubMed:15854030). These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (Probable).',NULL,NULL,NULL,NULL,NULL),(8335,'UniProt Function',NULL,10093,NULL,'Hydrolyzes lysophosphatidic acid (LPA). Facilitates axonal outgrowth during development and regenerative sprouting. In the outgrowing axons acts as an ecto-enzyme and attenuates phospholipid-induced axon collapse in neurons and facilitates outgrowth in the hippocampus.',NULL,NULL,NULL,NULL,NULL),(8336,'UniProt Function',NULL,10095,NULL,'Antidiuretic peptide that triggers the release of ADH.',NULL,NULL,NULL,NULL,NULL),(8337,'UniProt Function',NULL,10096,NULL,'Positively regulates dimethylation of two adjacent adenosines in the loop of a conserved hairpin near the 3\'-end of 18S rRNA (PubMed:25851604).',NULL,NULL,NULL,NULL,NULL),(8338,'UniProt Function',NULL,10098,NULL,'Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development.',NULL,NULL,NULL,NULL,NULL),(8339,'UniProt Function',NULL,10099,NULL,'Error-prone DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Favors Hoogsteen base-pairing in the active site. Inserts the correct base with high-fidelity opposite an adenosine template. Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert guanosine. May play a role in hypermutation of immunogobulin genes. Forms a Schiff base with 5\'-deoxyribose phosphate at abasic sites, but may not have lyase activity.',NULL,NULL,NULL,NULL,NULL),(8340,'UniProt Function',NULL,10100,NULL,'Binds in vitro to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF.',NULL,NULL,NULL,NULL,NULL),(8341,'UniProt Function',NULL,10101,NULL,'Plays a role in actin regulation at the ectoplasmic specialization, a type of cell junction specific to testis. Important for establishment of sperm polarity and normal spermatid adhesion. May also promote integrity of Sertoli cell tight junctions at the blood-testis barrier.',NULL,NULL,NULL,NULL,NULL),(8342,'UniProt Function',NULL,10102,NULL,'Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor.',NULL,NULL,NULL,NULL,NULL),(8343,'UniProt Function',NULL,10103,NULL,'Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A.',NULL,NULL,NULL,NULL,NULL),(8344,'UniProt Function',NULL,10104,NULL,'Involved in transcription activity regulation by chromatin remodeling. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(8345,'UniProt Function',NULL,10105,NULL,'Involved with the PAF1 complex (PAF1C) in transcriptional elongation by RNA polymerase II, and in regulation of development and maintenance of embryonic stem cell (ESC) pluripotency. Required for maintenance of ESCs self-renewal and cellular reprogramming of stem cells. Maintains pluripotency by recruiting and stabilizing PAF1C on pluripotency genes loci, and by regulating the expression of the pluripotency genes. Regulates the deposition of elongation-associated histone modifications, including dimethylated histone H3 \'Lys-79\' (H3K79me2) and trimethylated histone H3 \'Lys-36\' (H3K36me3), on PAF1C targets, self-renewal and pluripotency genes. Regulates RNA polymerase II promoter-proximal pause release of the PAF1C targets and self-renewal genes, and the levels of elongating (\'Ser-2\' phosphorylated) RNA polymerase II in their gene bodies. Regulates muscle specification in adult stem cells by stabilizing PAF1C in chromatin to promote myogenic differentiation (By similarity). Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643, PubMed:28541300). SF3B complex is required for \'A\' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). Acts as a transcriptional regulator by binding to the GJA1/Cx43 promoter and enhancing its up-regulation by ESR1/ER-alpha (By similarity).',NULL,NULL,NULL,NULL,NULL),(8346,'UniProt Function',NULL,10106,NULL,'Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(8347,'UniProt Function',NULL,10107,NULL,'Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.',NULL,NULL,NULL,NULL,NULL),(8348,'UniProt Function',NULL,10108,NULL,'May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(8349,'UniProt Function',NULL,10109,NULL,'Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.',NULL,NULL,NULL,NULL,NULL),(8350,'UniProt Function',NULL,10110,NULL,'Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI second mannose.',NULL,NULL,NULL,NULL,NULL),(8351,'UniProt Function',NULL,10111,NULL,'Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. Mediates RAC1-dependent reorganization of actin filaments. Contributes to the activation of PLD2. Together with PIP5K1A is required after stimulation of G-protein coupled receptors for stable platelet adhesion (By similarity).',NULL,NULL,NULL,NULL,NULL),(8352,'UniProt Function',NULL,10112,NULL,'Serine protease inhibitor which displays weak inhibitory activity against trypsin (PubMed:8882727). May play a role in facial patterning during embryonic development (By similarity).',NULL,NULL,NULL,NULL,NULL),(8353,'UniProt Function',NULL,10113,NULL,'Involved in the second step of GPI biosynthesis. De-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol.',NULL,NULL,NULL,NULL,NULL),(8354,'UniProt Function',NULL,10115,NULL,'The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes.',NULL,NULL,NULL,NULL,NULL),(8355,'UniProt Function',NULL,10116,NULL,'Binds GDP/GTP and possesses intrinsic GTPase activity. Has higher affinity for GDP than for GTP. In cell lines overexpression leads to a reduction in the rate of proliferation, colony formation and in tumorigenic potential.',NULL,NULL,NULL,NULL,NULL),(8356,'UniProt Function',NULL,10117,NULL,'Intracellular transport of retinol.',NULL,NULL,NULL,NULL,NULL),(8357,'UniProt Function',NULL,10118,NULL,'Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links.',NULL,NULL,NULL,NULL,NULL),(8358,'UniProt Function',NULL,10119,NULL,'Induces filopodia formation and promotes neurite growth in a CDC42-independent manner; impedes neurite growth inhibitory-mediated axonal retraction.',NULL,NULL,NULL,NULL,NULL),(8359,'UniProt Function',NULL,10120,NULL,'Tumor suppressor serine/threonine-protein kinase involved in synaptic plasticity, centriole duplication and G1/S phase transition. Polo-like kinases act by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates CENPJ, NPM1, RAPGEF2, RASGRF1, SNCA, SIPA1L1 and SYNGAP1. Plays a key role in synaptic plasticity and memory by regulating the Ras and Rap protein signaling: required for overactivity-dependent spine remodeling by phosphorylating the Ras activator RASGRF1 and the Rap inhibitor SIPA1L1 leading to their degradation by the proteasome. Conversely, phosphorylates the Rap activator RAPGEF2 and the Ras inhibitor SYNGAP1, promoting their activity. Also regulates synaptic plasticity independently of kinase activity, via its interaction with NSF that disrupts the interaction between NSF and the GRIA2 subunit of AMPARs, leading to a rapid rundown of AMPAR-mediated current that occludes long term depression. Required for procentriole formation and centriole duplication by phosphorylating CENPJ and NPM1, respectively. Its induction by p53/TP53 suggests that it may participate in the mitotic checkpoint following stress.',NULL,NULL,NULL,NULL,NULL),(8360,'UniProt Function',NULL,10121,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:28076346). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing (PubMed:11101529, PubMed:11544257).',NULL,NULL,NULL,NULL,NULL),(8361,'UniProt Function',NULL,10122,NULL,'Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Promotes CSK activation and recruitment to lipid rafts, which results in LCK inhibition. Inhibits immunological synapse formation by preventing dynamic arrangement of lipid raft proteins. May be involved in cell adhesion signaling.',NULL,NULL,NULL,NULL,NULL),(8362,'UniProt Function',NULL,10123,NULL,'Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization.',NULL,NULL,NULL,NULL,NULL),(8363,'UniProt Function',NULL,10125,NULL,'Positive regulator of Th1-type cytokine gene expression.',NULL,NULL,NULL,NULL,NULL),(8364,'UniProt Function',NULL,10126,NULL,'Acts as a transcriptional repressor. Involved in recruitment of functional SIN3A complexes to DNA. Represses transcription at least in part through the activity of an associated histone deacetylase (HDAC). May also repress transcription in a SIN3A-independent manner through recruitment of functional AES complexes to DNA.',NULL,NULL,NULL,NULL,NULL),(8365,'UniProt Function',NULL,10127,NULL,'Modulates chromatin structure. Required for normal chromosome condensation during the early stages of mitosis. Required for normal chromosome separation during mitosis.',NULL,NULL,NULL,NULL,NULL),(8366,'UniProt Function',NULL,10129,NULL,'Exhibits phosphohistidine phosphatase activity.',NULL,NULL,NULL,NULL,NULL),(8367,'UniProt Function',NULL,10130,NULL,'Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRB is thought to act as a cellular signaling activating receptor that associates with ITAM-bearing adapter molecules on the cell surface.',NULL,NULL,NULL,NULL,NULL),(8368,'UniProt Function',NULL,10131,NULL,'Regulatory subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123).',NULL,NULL,NULL,NULL,NULL),(8369,'UniProt Function',NULL,10132,NULL,'Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5\'CAGGTG-3\'. Capable of reversing CTBP1-mediated transcription repression. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Participates in the regulation of alternative pre-mRNA splicing. Associates to spliced mRNA within 60 nt upstream of the 5\'-splice sites. Component of the PSAP complex which binds RNA in a sequence-independent manner and is proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. Involved in the establishment and maintenance of epithelia cell-cell adhesion. Potential tumor suppressor for renal cell carcinoma.',NULL,NULL,NULL,NULL,NULL),(8370,'UniProt Function',NULL,10133,NULL,'Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell proliferation and act as tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(8371,'UniProt Function',NULL,10134,NULL,'Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5\'-TAAAT-3\'. Activates growth hormone and prolactin genes (PubMed:22010633, PubMed:26612202).',NULL,NULL,NULL,NULL,NULL),(8372,'UniProt Function',NULL,10135,NULL,'Pore-forming subunit of a heterotetrameric, non-selective cation channel that is permeable to Ca(2+) (PubMed:10517637, PubMed:11959145, PubMed:25820328, PubMed:27754867, PubMed:29425510, PubMed:23212381, PubMed:30004384). Pore-forming subunit of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, but does not affect cytoplasmic calcium concentration (PubMed:24336289). The channel formed by PKD1L2 and PKD1L1 in primary cilia regulates sonic hedgehog/SHH signaling and GLI2 transcription (PubMed:24336289). Pore-forming subunit of a channel formed by PKD1L2 and PKD1L3 that contributes to sour taste perception in gustatory cells (PubMed:19812697). The heteromeric channel formed by PKD1L2 and PKD1L3 is activated by low pH, but opens only when the extracellular pH rises again (PubMed:23212381). May play a role in the perception of carbonation taste (By similarity). May play a role in the sensory perception of water, via a mechanism that activates the channel in response to dilution of salivary bicarbonate and changes in salivary pH (By similarity).',NULL,NULL,NULL,NULL,NULL),(8373,'UniProt Function',NULL,10136,NULL,'Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Participates in cellular signaling in response to various growth factors. Involved in the activation of AKT1 upon stimulation by receptor tyrosine kinases ligands such as EGF, insulin, IGF1, VEGFA and PDGF. Involved in signaling via insulin-receptor substrate (IRS) proteins. Essential in endothelial cell migration during vascular development through VEGFA signaling, possibly by regulating RhoA activity. Required for lymphatic vasculature development, possibly by binding to RAS and by activation by EGF and FGF2, but not by PDGF. Regulates invadopodia formation through the PDPK1-AKT1 pathway. Participates in cardiomyogenesis in embryonic stem cells through a AKT1 pathway. Participates in vasculogenesis in embryonic stem cells through PDK1 and protein kinase C pathway. Also has serine-protein kinase activity: phosphorylates PIK3R1 (p85alpha regulatory subunit), EIF4EBP1 and HRAS. Plays a role in the positive regulation of phagocytosis and pinocytosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(8374,'UniProt Function',NULL,10137,NULL,'Binds GDP/GTP and may possess intrinsic GTPase activity.',NULL,NULL,NULL,NULL,NULL),(8375,'UniProt Function',NULL,10138,NULL,'Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone.',NULL,NULL,NULL,NULL,NULL),(8376,'UniProt Function',NULL,10139,NULL,'Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Acts on LPA containing saturated or unsaturated fatty acids C16:0-C20:4 at the sn-1 position using C18:1, C20:4 or C18:2-CoA as the acyl donor. Also acts on lysophosphatidylcholine, lysophosphatidylinositol and lysophosphatidylserine using C18:1 or C20:4-CoA (PubMed:21173190). Has a preference for arachidonoyl-CoA as a donor. Has also a modest lysophosphatidylinositol acyltransferase (LPIAT) activity, converts lysophosphatidylinositol (LPI) into phosphatidylinositol (By similarity).',NULL,NULL,NULL,NULL,NULL),(8377,'UniProt Function',NULL,10140,NULL,'Lipid droplet-associated protein that maintains the balance between lipogenesis and lipolysis and also regulates fatty acid oxidation in oxidative tissues. Recruits mitochondria to the surface of lipid droplets and is involved in lipid droplet homeostasis by regulating both the storage of fatty acids in the form of triglycerides and the release of fatty acids for mitochondrial fatty acid oxidation. In lipid droplet triacylglycerol hydrolysis, plays a role as a scaffolding protein for three major key lipolytic players: ABHD5, PNPLA2 and LIPE. Reduces the triacylglycerol hydrolase activity of PNPLA2 by recruiting and sequestering PNPLA2 to lipid droplets. Phosphorylation by PKA enables lipolysis probably by promoting release of ABHD5 from the perilipin scaffold and by facilitating interaction of ABHD5 with PNPLA2. Also increases lipolysis through interaction with LIPE and upon PKA-mediated phosphorylation of LIPE (By similarity).',NULL,NULL,NULL,NULL,NULL),(8378,'UniProt Function',NULL,10142,NULL,'Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ovulation, weakens the walls of the Graafian follicle. It activates the urokinase-type plasminogen activator, collagenases and several complement zymogens, such as C1 and C5. Cleavage of fibronectin and laminin leads to cell detachment and apoptosis. Also cleaves fibrin, thrombospondin and von Willebrand factor. Its role in tissue remodeling and tumor invasion may be modulated by CSPG4. Binds to cells.',NULL,NULL,NULL,NULL,NULL),(8379,'UniProt Function',NULL,10142,NULL,'Angiostatin is an angiogenesis inhibitor that blocks neovascularization and growth of experimental primary and metastatic tumors in vivo.',NULL,NULL,NULL,NULL,NULL),(8380,'UniProt Function',NULL,10143,NULL,'Modulates leading keratinocyte migration and cellular adhesion to matrix proteins during a wound-healing response and promotes wound repair. May play a role during trichilemmal differentiation of the hair follicle (By similarity).',NULL,NULL,NULL,NULL,NULL),(8381,'UniProt Function',NULL,10144,NULL,'Intracellular transport of retinol.',NULL,NULL,NULL,NULL,NULL),(8382,'UniProt Function',NULL,10145,NULL,'Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone.',NULL,NULL,NULL,NULL,NULL),(8383,'UniProt Function',NULL,10146,NULL,'Facilitates the transfer of a spectrum of different lipid molecules, including diacylglycerol, phosphatidic acid, sphingomyelin, phosphatidylcholine, phosphatidylglycerol, cerebroside and phosphatidyl ethanolamine. Essential for the transfer of excess surface lipids from triglyceride-rich lipoproteins to HDL, thereby facilitating the formation of smaller lipoprotein remnants, contributing to the formation of LDL, and assisting in the maturation of HDL particles. PLTP also plays a key role in the uptake of cholesterol from peripheral cells and tissues that is subsequently transported to the liver for degradation and excretion. Two distinct forms of PLTP exist in plasma: an active form that can transfer PC from phospholipid vesicles to high-density lipoproteins (HDL), and an inactive form that lacks this capability.',NULL,NULL,NULL,NULL,NULL),(8384,'UniProt Function',NULL,10147,NULL,'Binds actin monomers (G actin) and plays a role in the reorganization of the actin cytoskeleton and in formation of actin stress fibers. Plays a role in cell motility. Plays a role in the formation of tubules by endothelial cells. Regulates PPP1CA activity. Required for normal cell survival.',NULL,NULL,NULL,NULL,NULL),(8385,'UniProt Function',NULL,10148,NULL,'Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity.',NULL,NULL,NULL,NULL,NULL),(8386,'UniProt Function',NULL,10149,NULL,'Polycomb group (PcG) that specifically binds histone H3 trimethylated at \'Lys-36\' (H3K36me3) and recruits the PRC2 complex. Involved in DNA damage response and is recruited at double-strand breaks (DSBs). Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex: it is however unclear whether recruitment of the PRC2 complex to H3K36me3 leads to enhance or inhibit H3K27me3 methylation mediated by the PRC2 complex. According to some reports, PRC2 recruitment by PHF1 promotes H3K27me3 and subsequent gene silencing by inducing spreading of PRC2 and H3K27me3 into H3K36me3 loci (PubMed:18285464 and PubMed:23273982). According to another report, PHF1 recruits the PRC2 complex at double-strand breaks (DSBs) and inhibits the activity of PRC2 (PubMed:23142980). Regulates p53/TP53 stability and prolonges its turnover: may act by specifically binding to a methylated from of p53/TP53.',NULL,NULL,NULL,NULL,NULL),(8387,'UniProt Function',NULL,10150,NULL,'Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on \'Ser-473\' of AKT2 and AKT3, \'Ser-660\' of PRKCB and \'Ser-657\' of PRKCA (PubMed:15808505, PubMed:17386267, PubMed:18162466). Isoform 2 seems to have a major role in regulating Akt signaling in hippocampal neurons (By similarity). Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of \'Ser-473\' of Akt triggers apoptosis and suppression of tumor growth. Dephosphorylation of PRKCA and PRKCB leads to their destabilization and degradation (PubMed:18162466). Dephosphorylates STK4 on \'Thr-387\' leading to STK4 activation and apoptosis (PubMed:20513427). Dephosphorylates RPS6KB1 and is involved in regulation of cap-dependent translation (PubMed:21986499). Inhibits cancer cell proliferation and may act as a tumor suppressor (PubMed:19079341). Dephosphorylates RAF1 inhibiting its kinase activity (PubMed:24530606). May act as a negative regulator of K-Ras signaling in membrane rafts (By similarity). Involved in the hippocampus-dependent long-term memory formation (By similarity). Involved in circadian control by regulating the consolidation of circadian periodicity after resetting (By similarity). Involved in development and function of regulatory T-cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(8388,'UniProt Function',NULL,10151,NULL,'May participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. Inhibits the transcriptional activation activity of the cone-rod homeobox CRX.',NULL,NULL,NULL,NULL,NULL),(8389,'UniProt Function',NULL,10152,NULL,'May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype.',NULL,NULL,NULL,NULL,NULL),(8390,'UniProt Function',NULL,10153,NULL,'May play an important role in the production of Phosphatidylinositol bisphosphate (PIP2), in the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(8391,'UniProt Function',NULL,10154,NULL,'Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression, the regulation of cap-dependent protein translation and through survival signaling by phosphorylation of a pro-apoptotic protein, BAD. Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase transcriptional activity. The stabilization of MYC exerted by PIM2 might explain partly the strong synergism between these 2 oncogenes in tumorigenesis. Regulates cap-dependent protein translation in a mammalian target of rapamycin complex 1 (mTORC1)-independent manner and in parallel to the PI3K-Akt pathway. Mediates survival signaling through phosphorylation of BAD, which induces release of the anti-apoptotic protein Bcl-X(L)/BCL2L1. Promotes cell survival in response to a variety of proliferative signals via positive regulation of the I-kappa-B kinase/NF-kappa-B cascade; this process requires phosphorylation of MAP3K8/COT. Promotes growth factor-independent proliferation by phosphorylation of cell cycle factors such as CDKN1A and CDKN1B. Involved in the positive regulation of chondrocyte survival and autophagy in the epiphyseal growth plate.',NULL,NULL,NULL,NULL,NULL),(8392,'UniProt Function',NULL,10155,NULL,'Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.',NULL,NULL,NULL,NULL,NULL),(8393,'UniProt Function',NULL,10156,NULL,'Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions.',NULL,NULL,NULL,NULL,NULL),(8394,'UniProt Function',NULL,10157,NULL,'Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Can also form a functional, homotetrameric ion channel (PubMed:29899465). Functions as a cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (PubMed:18695040). Functions as outward-rectifying K(+) channel, but is also permeable to Ca(2+), and to a much lesser degree also to Na(+) (PubMed:11854751, PubMed:15692563, PubMed:27071085, PubMed:27991905). May contribute to the release of Ca(2+) stores from the endoplasmic reticulum (PubMed:11854751, PubMed:20881056). Together with TRPV4, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). PKD1 and PKD2 may function through a common signaling pathway that is necessary to maintain the normal, differentiated state of renal tubule cells. Acts as a regulator of cilium length, together with PKD1. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. Also involved in left-right axis specification via its role in sensing nodal flow; forms a complex with PKD1L1 in cilia to facilitate flow detection in left-right patterning. Detection of asymmetric nodal flow gives rise to a Ca(2+) signal that is required for normal, asymmetric expression of genes involved in the specification of body left-right laterality (By similarity).',NULL,NULL,NULL,NULL,NULL),(8395,'UniProt Function',NULL,10158,NULL,'Plays a role in the regulation of the actin cytoskeleton through its interactions with actin capping protein (CP). May function to target CK2 to the plasma membrane thereby serving as an adapter to facilitate the phosphorylation of CP by protein kinase 2 (CK2). Appears to target ATM to the plasma membrane. Appears to also inhibit tumor cell growth by inhibiting AKT-mediated cell-survival. Also implicated in PI3K-regulated muscle differentiation, the regulation of AP-1 activity (plasma membrane bound AP-1 regulator that translocates to the nucleus) and the promotion of apoptosis induced by tumor necrosis factor TNF. When bound to PKB, it inhibits it probably by decreasing PKB level of phosphorylation.',NULL,NULL,NULL,NULL,NULL),(8396,'UniProt Function',NULL,10159,NULL,'May induce apoptosis through the lysosomal-mitochondrial pathway. Translocates to the lysosome initiating the permeabilization of lysosomal membrane (LMP) and resulting in the release of CTSD and CTSL to the cytoplasm. Triggers the caspase-independent apoptosis by altering mitochondrial membrane permeabilization (MMP) resulting in the release of PDCD8.',NULL,NULL,NULL,NULL,NULL),(8397,'UniProt Function',NULL,10160,NULL,'Negatively regulates the PAK1 kinase. PAK1 is a member of the PAK kinase family, which has been shown to play a positive role in the regulation of signaling pathways involving MAPK8 and RELA. PAK1 exists as an inactive homodimer, which is activated by binding of small GTPases such as CDC42 to an N-terminal regulatory domain. PAK1IP1 also binds to the N-terminus of PAK1, and inhibits the specific activation of PAK1 by CDC42. May be involved in ribosomal large subunit assembly (PubMed:24120868).',NULL,NULL,NULL,NULL,NULL),(8398,'UniProt Function',NULL,10161,NULL,'May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide-binding protein (G protein) (PubMed:18045877). Involved in the regulation of actin polymerization (PubMed:26573021).',NULL,NULL,NULL,NULL,NULL),(8399,'UniProt Function',NULL,10162,NULL,'Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Involved in the activation of AKT1 upon stimulation by G-protein coupled receptors (GPCRs) ligands such as CXCL12, sphingosine 1-phosphate, and lysophosphatidic acid. May also act downstream receptor tyrosine kinases. Required in different signaling pathways for stable platelet adhesion and aggregation. Plays a role in platelet activation signaling triggered by GPCRs, alpha-IIb/beta-3 integrins (ITGA2B/ ITGB3) and ITAM (immunoreceptor tyrosine-based activation motif)-bearing receptors such as GP6. Regulates the strength of adhesion of ITGA2B/ ITGB3 activated receptors necessary for the cellular transmission of contractile forces. Required for platelet aggregation induced by F2 (thrombin) and thromboxane A2 (TXA2). Has a role in cell survival. May have a role in cell migration. Involved in the early stage of autophagosome formation. Modulates the intracellular level of PtdIns3P (Phosphatidylinositol 3-phosphate) and activates PIK3C3 kinase activity. May act as a scaffold, independently of its lipid kinase activity to positively regulate autophagy. May have a role in insulin signaling as scaffolding protein in which the lipid kinase activity is not required. May have a kinase-independent function in regulating cell proliferation and in clathrin-mediated endocytosis. Mediator of oncogenic signal in cell lines lacking PTEN. The lipid kinase activity is necessary for its role in oncogenic transformation. Required for the growth of ERBB2 and RAS driven tumors.',NULL,NULL,NULL,NULL,NULL),(8400,'UniProt Function',NULL,10164,NULL,'Phosphoinositide-3-kinase (PI3K) that phosphorylates PftdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Mediates immune responses. Plays a role in B-cell development, proliferation, migration, and function. Required for B-cell receptor (BCR) signaling. Mediates B-cell proliferation response to anti-IgM, anti-CD40 and IL4 stimulation. Promotes cytokine production in response to TLR4 and TLR9. Required for antibody class switch mediated by TLR9. Involved in the antigen presentation function of B-cells. Involved in B-cell chemotaxis in response to CXCL13 and sphingosine 1-phosphate (S1P). Required for proliferation, signaling and cytokine production of naive, effector and memory T-cells. Required for T-cell receptor (TCR) signaling. Mediates TCR signaling events at the immune synapse. Activation by TCR leads to antigen-dependent memory T-cell migration and retention to antigenic tissues. Together with PIK3CG participates in T-cell development. Contributes to T-helper cell expansion and differentiation. Required for T-cell migration mediated by homing receptors SELL/CD62L, CCR7 and S1PR1 and antigen dependent recruitment of T-cells. Together with PIK3CG is involved in natural killer (NK) cell development and migration towards the sites of inflammation. Participates in NK cell receptor activation. Have a role in NK cell maturation and cytokine production. Together with PIK3CG is involved in neutrophil chemotaxis and extravasation. Together with PIK3CG participates in neutrophil respiratory burst. Have important roles in mast-cell development and mast cell mediated allergic response. Involved in stem cell factor (SCF)-mediated proliferation, adhesion and migration. Required for allergen-IgE-induced degranulation and cytokine release. The lipid kinase activity is required for its biological function. Isoform 2 may be involved in stabilizing total RAS levels, resulting in increased ERK phosphorylation and increased PI3K activity.',NULL,NULL,NULL,NULL,NULL),(8401,'UniProt Function',NULL,10165,NULL,'Endonuclease that plays a critical role in PIWI-interacting RNA (piRNA) biogenesis during spermatogenesis. piRNAs provide essential protection against the activity of mobile genetic elements (By similarity). piRNA-mediated transposon silencing is thus critical for maintaining genome stability, in particular in germline cells when transposons are mobilized as a consequence of wide-spread genomic demethylation (By similarity). Has been proposed to act as a cardiolipin hydrolase to generate phosphatidic acid at mitochondrial surface (By similarity). Although it cannot be excluded that it can act as a phospholipase in some circumstances, it should be noted that cardiolipin hydrolase activity is either undetectable in vitro, or very low (PubMed:21397848). In addition, cardiolipin is almost exclusively found on the inner mitochondrial membrane, while PLD6 localizes to the outer mitochondrial membrane, facing the cytosol (PubMed:21397848). Has been shown to be a backbone-non-specific, single strand-specific nuclease, cleaving either RNA or DNA substrates with similar affinity. Produces 5\' phosphate and 3\' hydroxyl termini, suggesting it could directly participate in the processing of primary piRNA transcripts (By similarity). Also acts as a regulator of mitochondrial shape through facilitating mitochondrial fusion (PubMed:17028579, PubMed:26711011).',NULL,NULL,NULL,NULL,NULL),(8402,'UniProt Function',NULL,10166,NULL,'Involved in an inositol phospholipid-based intracellular signaling cascade. Shows no PLC activity to phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol. Component in the phospho-dependent endocytosis process of GABA A receptor (By similarity). Regulates the turnover of receptors and thus contributes to the maintenance of GABA-mediated synaptic inhibition. Its aberrant expression could contribute to the genesis and progression of lung carcinoma. Acts as an inhibitor of PPP1C.',NULL,NULL,NULL,NULL,NULL),(8403,'UniProt Function',NULL,10167,NULL,'Serine/threonine-protein kinase that performs several important functions throughout M phase of the cell cycle, including the regulation of centrosome maturation and spindle assembly, the removal of cohesins from chromosome arms, the inactivation of anaphase-promoting complex/cyclosome (APC/C) inhibitors, and the regulation of mitotic exit and cytokinesis. Polo-like kinase proteins acts by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates BORA, BUB1B/BUBR1, CCNB1, CDC25C, CEP55, ECT2, ERCC6L, FBXO5/EMI1, FOXM1, KIF20A/MKLP2, CENPU, NEDD1, NINL, NPM1, NUDC, PKMYT1/MYT1, KIZ, PPP1R12A/MYPT1, PRC1, RACGAP1/CYK4, SGO1, STAG2/SA2, TEX14, TOPORS, p73/TP73, TPT1, WEE1 and HNRNPU. Plays a key role in centrosome functions and the assembly of bipolar spindles by phosphorylating KIZ, NEDD1 and NINL. NEDD1 phosphorylation promotes subsequent targeting of the gamma-tubulin ring complex (gTuRC) to the centrosome, an important step for spindle formation. Phosphorylation of NINL component of the centrosome leads to NINL dissociation from other centrosomal proteins. Involved in mitosis exit and cytokinesis by phosphorylating CEP55, ECT2, KIF20A/MKLP2, CENPU, PRC1 and RACGAP1. Recruited at the central spindle by phosphorylating and docking PRC1 and KIF20A/MKLP2; creates its own docking sites on PRC1 and KIF20A/MKLP2 by mediating phosphorylation of sites subsequently recognized by the POLO box domains. Phosphorylates RACGAP1, thereby creating a docking site for the Rho GTP exchange factor ECT2 that is essential for the cleavage furrow formation. Promotes the central spindle recruitment of ECT2. Plays a central role in G2/M transition of mitotic cell cycle by phosphorylating CCNB1, CDC25C, FOXM1, CENPU, PKMYT1/MYT1, PPP1R12A/MYPT1 and WEE1. Part of a regulatory circuit that promotes the activation of CDK1 by phosphorylating the positive regulator CDC25C and inhibiting the negative regulators WEE1 and PKMYT1/MYT1. Also acts by mediating phosphorylation of cyclin-B1 (CCNB1) on centrosomes in prophase. Phosphorylates FOXM1, a key mitotic transcription regulator, leading to enhance FOXM1 transcriptional activity. Involved in kinetochore functions and sister chromatid cohesion by phosphorylating BUB1B/BUBR1, FBXO5/EMI1 and STAG2/SA2. PLK1 is high on non-attached kinetochores suggesting a role of PLK1 in kinetochore attachment or in spindle assembly checkpoint (SAC) regulation. Required for kinetochore localization of BUB1B. Regulates the dissociation of cohesin from chromosomes by phosphorylating cohesin subunits such as STAG2/SA2. Phosphorylates SGO1: required for spindle pole localization of isoform 3 of SGO1 and plays a role in regulating its centriole cohesion function. Mediates phosphorylation of FBXO5/EMI1, a negative regulator of the APC/C complex during prophase, leading to FBXO5/EMI1 ubiquitination and degradation by the proteasome. Acts as a negative regulator of p53 family members: phosphorylates TOPORS, leading to inhibit the sumoylation of p53/TP53 and simultaneously enhance the ubiquitination and subsequent degradation of p53/TP53. Phosphorylates the transactivation domain of the transcription factor p73/TP73, leading to inhibit p73/TP73-mediated transcriptional activation and pro-apoptotic functions. Phosphorylates BORA, and thereby promotes the degradation of BORA. Contributes to the regulation of AURKA function. Also required for recovery after DNA damage checkpoint and entry into mitosis. Phosphorylates MISP, leading to stabilization of cortical and astral microtubule attachments required for proper spindle positioning (PubMed:8991084, PubMed:11202906, PubMed:12207013, PubMed:12447691, PubMed:12524548, PubMed:12738781, PubMed:12852856, PubMed:12939256, PubMed:14532005, PubMed:14734534, PubMed:15070733, PubMed:15148369, PubMed:15469984, PubMed:16198290, PubMed:16247472, PubMed:16980960, PubMed:17081991, PubMed:17351640, PubMed:17376779, PubMed:17617734, PubMed:18174154, PubMed:18331714, PubMed:18418051, PubMed:18477460, PubMed:18521620, PubMed:18615013, PubMed:19160488, PubMed:19351716, PubMed:19468300, PubMed:19468302, PubMed:19473992, PubMed:19509060, PubMed:19597481, PubMed:23455478, PubMed:23509069). Together with MEIKIN, acts as a regulator of kinetochore function during meiosis I: required both for mono-orientation of kinetochores on sister chromosomes and protection of centromeric cohesin from separase-mediated cleavage (By similarity). Phosphorylates CEP68 and is required for its degradation (PubMed:25503564). Regulates nuclear envelope breakdown during prophase by phosphorylating DCTN1 resulting in its localization in the nuclear envelope (PubMed:20679239). Phosphorylates the heat shock transcription factor HSF1, promoting HSF1 nuclear translocation upon heat shock (PubMed:15661742). Phosphorylates HSF1 also in the early mitotic period; this phosphorylation regulates HSF1 localization to the spindle pole, the recruitment of the SCF(BTRC) ubiquitin ligase complex induicing HSF1 degradation, and hence mitotic progression (PubMed:18794143). Regulates mitotic progression by phosphorylating RIOK2 (PubMed:21880710).',NULL,NULL,NULL,NULL,NULL),(8404,'UniProt Function',NULL,10168,NULL,'Pyridoxal 5\'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5\'-phosphate (PLP), the active form of vitamin B6.',NULL,NULL,NULL,NULL,NULL),(8405,'UniProt Function',NULL,10169,NULL,'Retinol-binding protein that mediates retinol transport in blood plasma (PubMed:5541771). Delivers retinol from the liver stores to the peripheral tissues (Probable). Transfers the bound all-trans retinol to STRA6, that then facilitates retinol transport across the cell membrane (PubMed:22665496).',NULL,NULL,NULL,NULL,NULL),(8406,'UniProt Function',NULL,10170,NULL,'Intracellular transport of retinol.',NULL,NULL,NULL,NULL,NULL),(8407,'UniProt Function',NULL,10171,NULL,'Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets (PubMed:15550674). Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes (PubMed:16239926). May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion.',NULL,NULL,NULL,NULL,NULL),(8408,'UniProt Function',NULL,10172,NULL,'Specifically catalyzes coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA (PubMed:22560221). Additionally possesses low triacylglycerol lipase and CoA-independent acylglycerol transacylase activities and thus may play a role in acyl-chain remodeling of triglycerides (PubMed:15364929, PubMed:20034933, PubMed:22560221).',NULL,NULL,NULL,NULL,NULL),(8409,'UniProt Function',NULL,10173,NULL,'Lipid hydrolase.',NULL,NULL,NULL,NULL,NULL),(8410,'UniProt Function',NULL,10174,NULL,'Serine hydrolase, whose specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.',NULL,NULL,NULL,NULL,NULL),(8411,'UniProt Function',NULL,10177,NULL,'Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent.',NULL,NULL,NULL,NULL,NULL),(8412,'UniProt Function',NULL,10179,NULL,'Not known; does not seem to have catalytic activity.',NULL,NULL,NULL,NULL,NULL),(8413,'UniProt Function',NULL,10180,NULL,'May play a role in the development of the central system.',NULL,NULL,NULL,NULL,NULL),(8414,'UniProt Function',NULL,10182,NULL,'Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(8415,'UniProt Function',NULL,10182,NULL,'Regulates the dimerization of homeodomain protein HNF-1-alpha and enhances its transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(8416,'UniProt Function',NULL,10183,NULL,'Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.',NULL,NULL,NULL,NULL,NULL),(8417,'UniProt Function',NULL,10184,NULL,'Proto-oncogene with serine/threonine kinase activity that can prevent apoptosis, promote cell survival and protein translation. May contribute to tumorigenesis through: the delivery of survival signaling through phosphorylation of BAD which induces release of the anti-apoptotic protein Bcl-X(L), the regulation of cell cycle progression, protein synthesis and by regulation of MYC transcriptional activity. Additionally to this role on tumorigenesis, can also negatively regulate insulin secretion by inhibiting the activation of MAPK1/3 (ERK1/2), through SOCS6. Involved also in the control of energy metabolism and regulation of AMPK activity in modulating MYC and PPARGC1A protein levels and cell growth.',NULL,NULL,NULL,NULL,NULL),(8418,'UniProt Function',NULL,10185,NULL,'May play a role in transcription regulation.',NULL,NULL,NULL,NULL,NULL),(8419,'UniProt Function',NULL,10186,NULL,'May inhibit cardiomyocyte growth.',NULL,NULL,NULL,NULL,NULL),(8420,'UniProt Function',NULL,10187,NULL,'Regulatory subunit of the PI3K gamma complex. Acts as an adapter to drive activation of PIK3CG by beta-gamma G protein dimers. The PIK3CG:PIK3R6 heterodimer is much less sensitive to beta-gamma G protein dimers than PIK3CG:PIK3R5 and its membrane recruitment and beta-gamma G protein dimer-dependent activation requires HRAS bound to PIK3CG. Recruits of the PI3K gamma complex to a PDE3B:RAPGEF3 signaling complex involved in angiogenesis; signaling seems to involve RRAS.',NULL,NULL,NULL,NULL,NULL),(8421,'UniProt Function',NULL,10188,NULL,'Component of the DNA damage/stress response pathway that functions downstream of p53/TP53 and can either promote cell survival or apoptosis (PubMed:10973264, PubMed:15073321, PubMed:16360037, PubMed:17159900). Associated with CRADD and the CASP2 caspase, it forms the PIDDosome a complex that activates CASP2 and triggers apoptosis (PubMed:15073321, PubMed:17159900). Associated with IKBKG and RIPK1, it enhances sumoylation and ubiquitination of IKBKG which is important for activation of the transcription factor NF-kappa-B (PubMed:16360037, PubMed:17159900).',NULL,NULL,NULL,NULL,NULL),(8422,'UniProt Function',NULL,10189,NULL,'Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate.',NULL,NULL,NULL,NULL,NULL),(8423,'UniProt Function',NULL,10190,NULL,'Component of the GPI-GlcNAc transferase (GPI-GnT) complex in the endoplasmic reticulum, a complex that catalyzes transfer of GlcNAc from UDP-GlcNAc to an acceptor phosphatidylinositol, the first step in the production of GPI-anchors for cell surface proteins. May act by regulating the catalytic subunit PIGA.',NULL,NULL,NULL,NULL,NULL),(8424,'UniProt Function',NULL,10191,NULL,'Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer). Plays a central role in phospholipid metabolism and in the interorganelle trafficking of phosphatidylserine.',NULL,NULL,NULL,NULL,NULL),(8425,'UniProt Function',NULL,10192,NULL,'In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1.',NULL,NULL,NULL,NULL,NULL),(8426,'UniProt Function',NULL,10193,NULL,'Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.',NULL,NULL,NULL,NULL,NULL),(8427,'UniProt Function',NULL,10194,NULL,'Orphan receptor. Could be involved in modulating differentiation and maintaining homeostasis of epithelial cells. This retinoic acid-inducible GPCR provide evidence for a possible interaction between retinoid and G-protein signaling pathways. Functions as a negative modulator of EGFR signaling (By similarity). May act as a lung tumor suppressor (PubMed:18000218).',NULL,NULL,NULL,NULL,NULL),(8428,'UniProt Function',NULL,10195,NULL,'Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis (PubMed:22923583). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by controlling cellular NADPH biosynthesis and NADPH oxidase-derived reactive oxygen species. Upon macrophage activation, drives the metabolic switch toward glycolysis, thus preventing glucose turnover that produces NADPH via pentose phosphate pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(8429,'UniProt Function',NULL,10196,NULL,'In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor protein (primer recognition protein) (PubMed:2324090). May play a role in sperm motility (PubMed:26677959).',NULL,NULL,NULL,NULL,NULL),(8430,'UniProt Function',NULL,10197,NULL,'Regulatory subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5\'-cap structure of mRNAs (PubMed:22099306, PubMed:27422871). Promotes the recruitment of the methyl donor, S-adenosyl-L-methionine, to RNMT (PubMed:27422871). Regulates RNMT expression by a post-transcriptional stabilizing mechanism (PubMed:22099306). Binds RNA (PubMed:22099306).',NULL,NULL,NULL,NULL,NULL),(8431,'UniProt Function',NULL,10198,NULL,'Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL.',NULL,NULL,NULL,NULL,NULL),(8432,'UniProt Function',NULL,10199,NULL,'Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity (By similarity).',NULL,NULL,NULL,NULL,NULL),(8433,'UniProt Function',NULL,10200,NULL,'May play a scavenger role by digesting biologically active peptidoglycan (PGN) into biologically inactive fragments. Has no direct bacteriolytic activity.',NULL,NULL,NULL,NULL,NULL),(8434,'UniProt Function',NULL,10201,NULL,'Acts as a mediator of transcriptional repression by nuclear hormone receptors via recruitment of histone deacetylases (By similarity). Functions as an estrogen receptor (ER)-selective coregulator that potentiates the inhibitory activities of antiestrogens and represses the activity of estrogens. Competes with NCOA1 for modulation of ER transcriptional activity. Probably involved in regulating mitochondrial respiration activity and in aging.',NULL,NULL,NULL,NULL,NULL),(8435,'UniProt Function',NULL,10202,NULL,'This enzyme participates in both the breakdown and synthesis of glucose.',NULL,NULL,NULL,NULL,NULL),(8436,'UniProt Function',NULL,10203,NULL,'Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.',NULL,NULL,NULL,NULL,NULL),(8437,'UniProt Function',NULL,10204,NULL,'Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulator in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. The effects of this transcriptional coregulation, transactivation or silencing may vary depending upon the biological context and the PIAS2 isoform studied. However, it seems to be mostly involved in gene silencing. Binds to sumoylated ELK1 and enhances its transcriptional activity by preventing recruitment of HDAC2 by ELK1, thus reversing SUMO-mediated repression of ELK1 transactivation activity. Isoform PIAS2-beta, but not isoform PIAS2-alpha, promotes MDM2 sumoylation. Isoform PIAS2-alpha promotes PARK7 sumoylation. Isoform PIAS2-beta promotes NCOA2 sumoylation more efficiently than isoform PIAS2-alpha. Isoform PIAS2-alpha sumoylates PML at\'Lys-65\' and \'Lys-160\'.',NULL,NULL,NULL,NULL,NULL),(8438,'UniProt Function',NULL,10205,NULL,'Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond.',NULL,NULL,NULL,NULL,NULL),(8439,'UniProt Function',NULL,10206,NULL,'May play a role in transcription regulation.',NULL,NULL,NULL,NULL,NULL),(8440,'UniProt Function',NULL,10207,NULL,'Component of the GPI transamidase complex. May be involved in the recognition of either the GPI attachment signal or the lipid portion of GPI.',NULL,NULL,NULL,NULL,NULL),(8441,'UniProt Function',NULL,10208,NULL,'Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.',NULL,NULL,NULL,NULL,NULL),(8442,'UniProt Function',NULL,10209,NULL,'Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions (PubMed:19342684, PubMed:17580308). Tyr-690 plays a critical role in TEM and is required for efficient trafficking of PECAM1 to and from the lateral border recycling compartment (LBRC) and is also essential for the LBRC membrane to be targeted around migrating leukocytes (PubMed:19342684). Trans-homophilic interaction may play a role in endothelial cell-cell adhesion via cell junctions (PubMed:27958302). Heterophilic interaction with CD177 plays a role in transendothelial migration of neutrophils (PubMed:17580308). Homophilic ligation of PECAM1 prevents macrophage-mediated phagocytosis of neighboring viable leukocytes by transmitting a detachment signal (PubMed:12110892). Promotes macrophage-mediated phagocytosis of apoptotic leukocytes by tethering them to the phagocytic cells; PECAM1-mediated detachment signal appears to be disabled in apoptotic leukocytes (PubMed:12110892). Modulates bradykinin receptor BDKRB2 activation (PubMed:18672896). Regulates bradykinin- and hyperosmotic shock-induced ERK1/2 activation in endothelial cells (PubMed:18672896). Induces susceptibility to atherosclerosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(8443,'UniProt Function',NULL,10209,NULL,'Isoform Delta15: Does not protect against apoptosis.',NULL,NULL,NULL,NULL,NULL),(8444,'UniProt Function',NULL,10210,NULL,'Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity.',NULL,NULL,NULL,NULL,NULL),(8445,'UniProt Function',NULL,10211,NULL,'Involved in lipid remodeling during GPI-anchor maturation.',NULL,NULL,NULL,NULL,NULL),(8446,'UniProt Function',NULL,10213,NULL,'Required for the proper formation of vascular structures that develop via both vasculogenesis and angiogenesis. Acts as a critical and vascular-specific regulator of GTPase signaling, cell architecture, and adhesion, which is essential for endothelial cell morphogenesis and blood vessel tubulogenesis. Regulates the activity of Rho GTPases in part by recruiting ARHGAP29 and suppressing RhoA signaling and dampening ROCK and MYH9 activities in endothelial cells (By similarity). May act as effector for Golgi-bound HRAS and other Ras-like proteins. May promote HRAS-mediated transformation. Negative regulator of amino acid starvation-induced autophagy.',NULL,NULL,NULL,NULL,NULL),(8447,'UniProt Function',NULL,10215,NULL,'Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for calcitonin-gene-related peptide (CGRP) together with CALCRL.',NULL,NULL,NULL,NULL,NULL),(8448,'UniProt Function',NULL,10217,NULL,'Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity.',NULL,NULL,NULL,NULL,NULL),(8449,'UniProt Function',NULL,10218,NULL,'Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3\'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity).',NULL,NULL,NULL,NULL,NULL),(8450,'UniProt Function',NULL,10219,NULL,'Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 \'Lys-9\' residue (H3K9Me1 and H3K9Me2), dimethylated H3 \'Lys-27\' (H3K27Me2) and monomethylated histone H4 \'Lys-20\' residue (H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNA transcription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for brain development, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 when nucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activity toward dimethylated H3 \'Lys-36\' (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specifically binds trimethylated \'Lys-4\' of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activity toward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3.',NULL,NULL,NULL,NULL,NULL),(8451,'UniProt Function',NULL,10220,NULL,'Methyllysine-binding protein, component of the MOF histone acetyltransferase protein complex. Not required for maintaining the global histone H4 \'Lys-16\' acetylation (H4K16ac) levels or locus specific histone acetylation, but instead works downstream in transcriptional regulation of MOF target genes (By similarity). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Contributes to methyllysine-dependent p53/TP53 stabilization and up-regulation after DNA damage.',NULL,NULL,NULL,NULL,NULL),(8452,'UniProt Function',NULL,10221,NULL,'Acts as a negative regulator of autophagy, through promoting ubiquitination and degradation of LRSAM1, an E3 ubiquitin ligase that promotes autophagy in response to starvation or infecting bacteria.',NULL,NULL,NULL,NULL,NULL),(8453,'UniProt Function',NULL,10222,NULL,'Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles (PubMed:17636026). Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription (PubMed:22368283, PubMed:24036451). Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1 (PubMed:20864032). Positively regulates the assembly and activity of the mTORC1 complex (PubMed:24036451).',NULL,NULL,NULL,NULL,NULL),(8454,'UniProt Function',NULL,10223,NULL,'Plays a role in cytoplasmic pre-assembly of axonemal dynein.',NULL,NULL,NULL,NULL,NULL),(8455,'UniProt Function',NULL,10224,NULL,'Required for normal chromosome segregation during cell division and genomic stability (By similarity). May function in recognizing stalled ribosomes and triggering endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and degrade damaged mRNAs. May have ribonuclease activity (Potential).',NULL,NULL,NULL,NULL,NULL),(8456,'UniProt Function',NULL,10225,NULL,'E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates \'Lys-63\'-linked polyubiquitination of IRAK1. Can activate AP1/JUN and ELK1. Not required for NF-kappa-B activation.',NULL,NULL,NULL,NULL,NULL),(8457,'UniProt Function',NULL,10226,NULL,'Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.',NULL,NULL,NULL,NULL,NULL),(8458,'UniProt Function',NULL,10227,NULL,'Involved in inositol deacylation of GPI-anchored proteins. GPI inositol deacylation may important for efficient transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi (By similarity).',NULL,NULL,NULL,NULL,NULL),(8459,'UniProt Function',NULL,10229,NULL,'May be involved in collagen fiber assembly.',NULL,NULL,NULL,NULL,NULL),(8460,'UniProt Function',NULL,10230,NULL,'Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity).',NULL,NULL,NULL,NULL,NULL),(8461,'UniProt Function',NULL,10231,NULL,'Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with IHO1/CCDC36 and MEI4, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis.',NULL,NULL,NULL,NULL,NULL),(8462,'UniProt Function',NULL,10232,NULL,'Seems to be involved in the assembly of the postsynaptic apparatus. May play a role in acetyl-choline receptor (AChR) aggregation in the postsynaptic membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(8463,'UniProt Function',NULL,10235,NULL,'Involved in GPI-anchor biosynthesis through the transfer of ethanolamine phosphate to the third mannose of GPI.',NULL,NULL,NULL,NULL,NULL),(8464,'UniProt Function',NULL,10237,NULL,'Binds double-stranded RNA. Inhibits EIF2AK2 kinase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(8465,'UniProt Function',NULL,10238,NULL,'Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment.',NULL,NULL,NULL,NULL,NULL),(8466,'UniProt Function',NULL,10239,NULL,'Hydrolyzes the ester bond at the sn-1 position of glycerophospholipids and produces 2-acyl lysophospholipids. Hydrolyzes phosphatidylserine (PS) in the form of liposomes and 1-acyl-2 lysophosphatidylserine (lyso-PS), but not triolein, phosphatidylcholine (PC), phosphatidylethanolamine (PE), phosphatidic acid (PA) or phosphatidylinositol (PI). Isoform 2 hydrolyzes lyso-PS but not PS. Hydrolysis of lyso-PS in peritoneal mast cells activated by receptors for IgE leads to stimulate histamine production.',NULL,NULL,NULL,NULL,NULL),(8467,'UniProt Function',NULL,10240,NULL,'May bind non-covalently to lysine binding sites present in the kringle structures of plasminogen. This may interfere with the binding of fibrin or alpha-2-antiplasmin to plasminogen and may result in the localization of activity at sites necessary for extracellular matrix destruction (By similarity).',NULL,NULL,NULL,NULL,NULL),(8468,'UniProt Function',NULL,10241,NULL,'May bind noncovalently to lysine binding sites present in the kringle structures of plasminogen. This may interfere with the binding of fibrin or alpha-2-antiplasmin to plasminogen and may result in the localization of activity at sites necessary for extracellular matrix destruction.',NULL,NULL,NULL,NULL,NULL),(8469,'UniProt Function',NULL,10242,NULL,'May play an role in the regulation of Ins(1,4,5)P3 around the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(8470,'UniProt Function',NULL,10243,NULL,'Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to both G(i)-alpha and G(q)-alpha (By similarity).',NULL,NULL,NULL,NULL,NULL),(8471,'UniProt Function',NULL,10244,NULL,'Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Besides, modulates signal transduction via G protein alpha subunits by functioning as a GDP-dissociation inhibitor (GDI). Has GDI activity on G(i) alpha subunits GNAI1 and GNAI3, but not on GNAI2 and G(o) alpha subunit GNAO1. Has GAP activity on GNAI0, GNAI2 and GNAI3. May act as a scaffold integrating G protein and Ras/Raf MAPkinase signaling pathways. Inhibits platelet-derived growth factor (PDGF)-stimulated ERK1/ERK2 phosphorylation; a process depending on its interaction with HRAS and that is reversed by G(i) alpha subunit GNAI1. Acts as a positive modulator of microtubule polymerisation and spindle organization through a G(i)-alpha-dependent mechanism. Plays a role in cell division. Required for the nerve growth factor (NGF)-mediated neurite outgrowth. Involved in stress resistance. May be involved in visual memory processing capacity and hippocampal-based learning and memory.',NULL,NULL,NULL,NULL,NULL),(8472,'UniProt Function',NULL,10245,NULL,'Rhomboid protease-like protein which has no protease activity but regulates the secretion of several ligands of the epidermal growth factor receptor. Indirectly activates the epidermal growth factor receptor signaling pathway and may thereby regulate sleep, cell survival, proliferation and migration.',NULL,NULL,NULL,NULL,NULL),(8473,'UniProt Function',NULL,10246,NULL,'Functions as a GTPase-activating protein (GAP) for RHOA and CDC42. Downstream partner of ARF1 which may control Golgi apparatus structure and function. Also required for CTNNA1 recruitment to adherens junctions.',NULL,NULL,NULL,NULL,NULL),(8474,'UniProt Function',NULL,10247,NULL,'Rho GTPase-activating protein involved in the signal transduction pathway that regulates endothelial cell capillary tube formation during angiogenesis. Acts as a GTPase activator for the RAC1 by converting it to an inactive GDP-bound state. Inhibits RAC1-dependent lamellipodia formation. May also play a role in transcription regulation via its interaction with VEZF1, by regulating activity of the endothelin-1 (EDN1) promoter (By similarity).',NULL,NULL,NULL,NULL,NULL),(8475,'UniProt Function',NULL,10249,NULL,'Rab9-regulated ATPase required for endosome to Golgi transport. Involved in transport vesicle docking at the Golgi complex, possibly by participating in release M6PRBP1/TIP47 from vesicles to permit their efficient docking and fusion at the Golgi. Specifically binds Rab9, but not other Rab proteins. Has low intrinsic ATPase activity due to autoinhibition, which is relieved by Rab9.',NULL,NULL,NULL,NULL,NULL),(8476,'UniProt Function',NULL,10250,NULL,'May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.',NULL,NULL,NULL,NULL,NULL),(8477,'UniProt Function',NULL,10252,NULL,'Hominin-specific protein that promotes development and evolutionary expansion of the brain neocortex (PubMed:25721503). Able to promote amplification of basal progenitors in the subventricular zone, producing more neurons during fetal corticogenesis (PubMed:25721503). Does not possess GTPase activator activity (PubMed:25721503).',NULL,NULL,NULL,NULL,NULL),(8478,'UniProt Function',NULL,10253,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing the cell morphology.',NULL,NULL,NULL,NULL,NULL),(8479,'UniProt Function',NULL,10255,NULL,'Mediates apoptosis in neoplastically transformed cells after DNA damage. Not essential for development but affects cell adhesion and growth factor signaling in transformed cells. Plays a negative role in tumorigenesis as deletion causes tumor formation. Involved in intracellular protein trafficking of a number of proteins. Targets PKN1 to endosomes and is involved in trafficking of the EGF receptor from late endosomes to lysosomes. Also required for stability and nuclear trafficking of AKT1/AKT which promotes endothelial cell survival during vascular development. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Required for genotoxic stress-induced cell death in breast cancer cells.',NULL,NULL,NULL,NULL,NULL),(8480,'UniProt Function',NULL,10256,NULL,'Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins by exchanging bound GDP for free GTP. Able to potentiate G(olf)-alpha-dependent cAMP accumulation suggesting that it may be an important component for odorant signal transduction.',NULL,NULL,NULL,NULL,NULL),(8481,'UniProt Function',NULL,10257,NULL,'The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP and may thereby required for efficient fusion of endosome-derived vesicles with the Golgi compartment. The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors. Required for phosphorylation and localization of GJA1.',NULL,NULL,NULL,NULL,NULL),(8482,'UniProt Function',NULL,10258,NULL,'Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development.',NULL,NULL,NULL,NULL,NULL),(8483,'UniProt Function',NULL,10259,NULL,'Plays a role in somitogenesis. Essential for transcriptional repression of the segmental patterning genes, thus terminating the segmentation program in the presomitic mesoderm, and also required for the maintenance of rostrocaudal polarity in somites (By similarity).',NULL,NULL,NULL,NULL,NULL),(8484,'UniProt Function',NULL,10260,NULL,'Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides.',NULL,NULL,NULL,NULL,NULL),(8485,'UniProt Function',NULL,10261,NULL,'Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization (PubMed:17150207, PubMed:24687993, PubMed:23241886, PubMed:24958875, PubMed:25588844, PubMed:27556504). Inhibits chemokine-induced T lymphocyte responses, such as cell adhesion, polarization and migration (PubMed:23241886). Involved also in the regulation of neutrophil polarization, chemotaxis and adhesion (By similarity). Required for normal development of inner and outer hair cell stereocilia within the cochlea of the inner ear (By similarity). Plays a role for maintaining the structural organization of the basal domain of stereocilia (By similarity). Involved in mechanosensory hair cell function (By similarity). Required for normal hearing (PubMed:24958875).',NULL,NULL,NULL,NULL,NULL),(8486,'UniProt Function',NULL,10261,NULL,'Isoform 2: Acts as an inhibitor of the small GTPase RHOA (PubMed:25588844). Plays a role in fetal mononuclear myoblast differentiation by promoting filopodia and myotube formation (PubMed:17150207). Maintains naive T lymphocytes in a quiescent state (PubMed:27556504).',NULL,NULL,NULL,NULL,NULL),(8487,'UniProt Function',NULL,10262,NULL,'Guanine nucleotide exchange factor (GEF) for RAB5A and RAB22A that activates RAB5A and RAB22A by exchanging bound GDP for free GTP. Plays a role in endocytosis via its role in activating Rab family members (By similarity).',NULL,NULL,NULL,NULL,NULL),(8488,'UniProt Function',NULL,10263,NULL,'Mediates the import of RPA complex into the nucleus, possibly via some interaction with importin beta. Isoform 2 is sumoylated and mediates the localization of RPA complex into the PML body of the nucleus, thereby participating in RPA function in DNA metabolism.',NULL,NULL,NULL,NULL,NULL),(8489,'UniProt Function',NULL,10264,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has activity toward RAC1. Overexpression results in an increase in actin stress fibers and cell contraction.',NULL,NULL,NULL,NULL,NULL),(8490,'UniProt Function',NULL,10265,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.',NULL,NULL,NULL,NULL,NULL),(8491,'UniProt Function',NULL,10266,NULL,'May influence blood pressure by functioning as a GTPase-activating protein for RHOA in vascular smooth muscle.',NULL,NULL,NULL,NULL,NULL),(8492,'UniProt Function',NULL,10267,NULL,'Acts as a signaling transduction factor of the EPO-EPOR signaling pathway promoting erythroid cell differentiation (PubMed:25092874).',NULL,NULL,NULL,NULL,NULL),(8493,'UniProt Function',NULL,10268,NULL,'Plays a role in the control of the actin cytoskeleton via activation of the JNK pathway.',NULL,NULL,NULL,NULL,NULL),(8494,'UniProt Function',NULL,10269,NULL,'GTPase-activating protein for Rho family members (PubMed:8537347).',NULL,NULL,NULL,NULL,NULL),(8495,'UniProt Function',NULL,10270,NULL,'Has no enzymatic activity. May serve as a target for Rho, and interact with some cytoskeletal component upon Rho binding or relay a Rho signal to other molecules.',NULL,NULL,NULL,NULL,NULL),(8496,'UniProt Function',NULL,10271,NULL,'Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Involved in a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Plays an essential role in cleavage furrow formation. Required for the apical junction formation of keratinocyte cell-cell adhesion. Stimulates PKN2 kinase activity. May be an activator of PLCE1. Activated by ARHGEF2, which promotes the exchange of GDP for GTP. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Involved in a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Plays an essential role in cleavage furrow formation. Required for the apical junction formation of keratinocyte cell-cell adhesion. May be an activator of PLCE1. Activated by ARHGEF2, which promotes the exchange of GDP for GTP. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (By similarity). Regulates KCNA2 potassium channel activity by reducing its location at the cell surface in response to CHRM1 activation; promotes KCNA2 endocytosis (PubMed:9635436, PubMed:19403695).',NULL,NULL,NULL,NULL,NULL),(8497,'UniProt Function',NULL,10271,NULL,'(Microbial infection) Serves as a target for the yopT cysteine peptidase from Yersinia pestis, vector of the plague.',NULL,NULL,NULL,NULL,NULL),(8498,'UniProt Function',NULL,10271,NULL,'(Microbial infection) Serves as a target for the yopT cysteine peptidase from Yersinia pseudotuberculosis, which causes gastrointestinal disorders.',NULL,NULL,NULL,NULL,NULL),(8499,'UniProt Function',NULL,10272,NULL,'Plays a role in DNA damage response (DDR) signaling upon genotoxic stresses such as ionizing radiation (IR) during the S phase. Recruited to sites of DNA damage through interaction with the 9-1-1 cell-cycle checkpoint response complex and TOPBP1 in a ATR-dependent manner. Required for the progression of the G1 to S phase transition. Plays a role in the stimulation of CHEK1 phosphorylation.',NULL,NULL,NULL,NULL,NULL),(8500,'UniProt Function',NULL,10273,NULL,'Promotes functional expression of homomeric alpha-7 and alpha-8 nicotinic acetylcholine receptors at the cell surface. May also promote functional expression of homomeric serotoninergic 5-HT3 receptors, and of heteromeric acetylcholine receptors alpha-3/beta-2, alpha-3/beta-4, alpha-4/beta-2 and alpha-4/beta-4.',NULL,NULL,NULL,NULL,NULL),(8501,'UniProt Function',NULL,10274,NULL,'Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins. Able to activate GNAI1, GNAO1 and GNAQ, but not GNAS by exchanging bound GDP for free GTP. Involved in regulation of microtubule pulling forces during mitotic movement of chromosomes by stimulating G(i)-alpha protein, possibly leading to release G(i)-alpha-GTP and NuMA proteins from the NuMA-GPSM2-G(i)-alpha-GDP complex (By similarity). Also acts as an activator for G(q)-alpha (GNAQ) protein by enhancing the G(q)-coupled receptor-mediated ERK activation.',NULL,NULL,NULL,NULL,NULL),(8502,'UniProt Function',NULL,10275,NULL,'Serine/threonine-protein kinase involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in export of the 40S pre-ribosome particles (pre-40S) from the nucleus to the cytoplasm. Its kinase activity is required for the release of NOB1, PNO1 and LTV1 from the late pre-40S and the processing of 18S-E pre-rRNA to the mature 18S rRNA (PubMed:19564402). Regulates the timing of the metaphase-anaphase transition during mitotic progression, and its phosphorylation, most likely by PLK1, regulates this function (PubMed:21880710).',NULL,NULL,NULL,NULL,NULL),(8503,'UniProt Function',NULL,10277,NULL,'Involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in processing of 18S-E pre-rRNA to the mature 18S rRNA. Required for the recycling of NOB1 and PNO1 from the late 40S precursor (PubMed:22072790). The association with the very late 40S subunit intermediate may involve a translation-like checkpoint point cycle preceeding the binding to the 60S ribosomal subunit (By similarity). Despite the protein kinase domain is proposed to act predominantly as an ATPase (By similarity). The catalytic activity regulates its dynamic association with the 40S subunit (By similarity). In addition to its role in ribosomal biogenesis acts as an adapter protein by recruiting NCL/nucleolin the to PRMT5 complex for its symmetrical methylation (PubMed:21081503).',NULL,NULL,NULL,NULL,NULL),(8504,'UniProt Function',NULL,10278,NULL,'Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the TOR signaling cascade by amino acids.',NULL,NULL,NULL,NULL,NULL),(8505,'UniProt Function',NULL,10279,NULL,'It is a plasma membrane-associated GTP-binding protein with GTPase activity. Might transduce growth inhibitory signals across the cell membrane, exerting its effect through an effector shared with the Ras proteins but in an antagonistic fashion.',NULL,NULL,NULL,NULL,NULL),(8506,'UniProt Function',NULL,10280,NULL,'Regulates the organization of the actin cytoskeleton (PubMed:16537651, PubMed:18270267). With OSPBL3, modulates integrin beta-1 (ITGB1) activity (PubMed:18270267).',NULL,NULL,NULL,NULL,NULL),(8507,'UniProt Function',NULL,10281,NULL,'Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit. Not involved in the GTP-dependent ribosomal translocation step during translation elongation.',NULL,NULL,NULL,NULL,NULL),(8508,'UniProt Function',NULL,10282,NULL,'Component of the large ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(8509,'UniProt Function',NULL,10283,NULL,'Responsible for the release of ribosomes from messenger RNA at the termination of protein biosynthesis. May increase the efficiency of translation by recycling ribosomes from one round of translation to another (By similarity).',NULL,NULL,NULL,NULL,NULL),(8510,'UniProt Function',NULL,10284,NULL,'Involved in cell shape and neuronal morphogenesis, positively regulating the establishment and maintenance of dendritic spines. Plays a role in cellular protein transport, including protein transport away from primary cilia. May function via activation of RAC1 and PAK1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(8511,'UniProt Function',NULL,10285,NULL,'Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at \'Lys-9\' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds to H3K9me2 and probably acts as a methyltransferase. Its substrates are however unknown.',NULL,NULL,NULL,NULL,NULL),(8512,'UniProt Function',NULL,10286,NULL,'Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus.',NULL,NULL,NULL,NULL,NULL),(8513,'UniProt Function',NULL,10287,NULL,'Catalyzes the synthesis of N-acetyl-L-aspartyl-L-glutamate (NAAG) and N-acetyl-L-aspartyl-L-glutamyl-L-glutamate.',NULL,NULL,NULL,NULL,NULL),(8514,'UniProt Function',NULL,10288,NULL,'Transcription factor that binds specifically to the RAS-responsive elements (RRE) of gene promoters. May be involved in Ras/Raf-mediated cell differentiation by enhancing calcitonin expression. Represses the angiotensinogen gene. Negatively regulates the transcriptional activity of AR. Potentiates the transcriptional activity of NEUROD1.',NULL,NULL,NULL,NULL,NULL),(8515,'UniProt Function',NULL,10289,NULL,'Putative catalytic component of the RNA exosome complex which has 3\'->5\' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding \'pervasive\' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3\' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. DIS3 has both 3\'-5\' exonuclease and endonuclease activities.',NULL,NULL,NULL,NULL,NULL),(8516,'UniProt Function',NULL,10291,NULL,'May be involved in autophagy-related processes.',NULL,NULL,NULL,NULL,NULL),(8517,'UniProt Function',NULL,10292,NULL,'Cell surface receptor that plays a functionally redundant role in the inhibition of neurite outgrowth mediated by MAG (By similarity). Plays a functionally redundant role in postnatal brain development. Contributes to normal axon migration across the brain midline and normal formation of the corpus callosum. Does not seem to play a significant role in regulating axon regeneration in the adult central nervous system. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated by MAG (By similarity). Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development (PubMed:22325200). Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton (PubMed:22325200).',NULL,NULL,NULL,NULL,NULL),(8518,'UniProt Function',NULL,10293,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates such as LCMT2, thereby promoting their degradation. Induces apoptosis via a p53/TP53-dependent but caspase-independent mechanism. However, its overexpression also produces a decrease of the ubiquitin-dependent stability of BAX, a pro-apoptotic protein, ultimately leading to protection of cell death; But, it is not an anti-apoptotic protein per se.',NULL,NULL,NULL,NULL,NULL),(8519,'UniProt Function',NULL,10294,NULL,'Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration.',NULL,NULL,NULL,NULL,NULL),(8520,'UniProt Function',NULL,10295,NULL,'Protein transport. Probably involved in vesicular traffic (By similarity).',NULL,NULL,NULL,NULL,NULL),(8521,'UniProt Function',NULL,10296,NULL,'Protein transport. Probably involved in vesicular traffic (By similarity).',NULL,NULL,NULL,NULL,NULL),(8522,'UniProt Function',NULL,10297,NULL,'RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA (PubMed:16129689, PubMed:27602518). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:27602518). Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex (PubMed:27602518). Involved in random X inactivation mediated by Xist RNA: acts by binding Xist RNA and recruiting the WMM complex, which mediates m6A methylation, leading to target YTHDC1 reader on Xist RNA and promoting transcription repression activity of Xist (PubMed:27602518). Functions in the regulation of alternative or illicit splicing, possibly by regulating m6A methylation (PubMed:16129689). Inhibits pre-mRNA splicing (PubMed:21044963). Also functions as a mRNA export factor by acting as a cofactor for the nuclear export receptor NXF1 (PubMed:19586903).',NULL,NULL,NULL,NULL,NULL),(8523,'UniProt Function',NULL,10298,NULL,'Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the regulation of cell proliferation (PubMed:23698361, PubMed:22711838). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306).',NULL,NULL,NULL,NULL,NULL),(8524,'UniProt Function',NULL,10300,NULL,'Probable inhibitory regulator of the Ras-cyclic AMP pathway (PubMed:9751798). Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(8525,'UniProt Function',NULL,10302,NULL,'Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3\'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity).',NULL,NULL,NULL,NULL,NULL),(8526,'UniProt Function',NULL,10303,NULL,'Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II (By similarity).',NULL,NULL,NULL,NULL,NULL),(8527,'UniProt Function',NULL,10304,NULL,'Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney.',NULL,NULL,NULL,NULL,NULL),(8528,'UniProt Function',NULL,10305,NULL,'RNA-dependent helicase and ATPase required for nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited to mRNAs upon translation termination and undergoes a cycle of phosphorylation and dephosphorylation; its phosphorylation appears to be a key step in NMD. Recruited by release factors to stalled ribosomes together with the SMG1C protein kinase complex to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) (located 50-55 or more nucleotides downstream from the termination codon) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Phosphorylated UPF1 is recognized by EST1B/SMG5, SMG6 and SMG7 which are thought to provide a link to the mRNA degradation machinery involving exonucleolytic and endonucleolytic pathways, and to serve as adapters to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation and allowing the recycling of NMD factors. UPF1 can also activate NMD without UPF2 or UPF3, and in the absence of the NMD-enhancing downstream EJC indicative for alternative NMD pathways. Plays a role in replication-dependent histone mRNA degradation at the end of phase S; the function is independent of UPF2. For the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed. The ATPase activity of UPF1 is required for disassembly of mRNPs undergoing NMD. Essential for embryonic viability.',NULL,NULL,NULL,NULL,NULL),(8529,'UniProt Function',NULL,10306,NULL,'Mediates NRF1-enhanced neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(8530,'UniProt Function',NULL,10307,NULL,'The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1.',NULL,NULL,NULL,NULL,NULL),(8531,'UniProt Function',NULL,10308,NULL,'Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in enhancement of NOTCH1 activation by DLL1 and JAG1. May be involved in limb formation and in neurogenesis.',NULL,NULL,NULL,NULL,NULL),(8532,'UniProt Function',NULL,10309,NULL,'As part of the alternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared to the RPA2-containing, canonical RPA complex, may not support chromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNA polymerase alpha but could support DNA polymerase delta synthesis in the presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange.',NULL,NULL,NULL,NULL,NULL),(8533,'UniProt Function',NULL,10310,NULL,'Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis.',NULL,NULL,NULL,NULL,NULL),(8534,'UniProt Function',NULL,10311,NULL,'Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the GTP-bound form of Rap 1A and H-Ras in vitro (By similarity).',NULL,NULL,NULL,NULL,NULL),(8535,'UniProt Function',NULL,10313,NULL,'Regulates integrin internalization and recycling, but does not influence the traffic of endosomally translocated receptors in general (By similarity). As a result, may regulate cell adhesion and migration (By similarity). During the mitosis of adherent cells, controls the endosomal trafficking of integrins which is required for the successful completion of cytokinesis (PubMed:18804435). Involved in neurite growth (By similarity). Following SBF2/MTMT13-mediated activation in response to starvation-induced autophagy, binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148).',NULL,NULL,NULL,NULL,NULL),(8536,'UniProt Function',NULL,10314,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(8537,'UniProt Function',NULL,10315,NULL,'Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin.',NULL,NULL,NULL,NULL,NULL),(8538,'UniProt Function',NULL,10316,NULL,'Does not have cyclase activity. Plays a role in 40S-ribosomal-subunit biogenesis in the early pre-rRNA processing steps at sites A0, A1 and A2 that are required for proper maturation of the 18S RNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(8539,'UniProt Function',NULL,10317,NULL,'May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.',NULL,NULL,NULL,NULL,NULL),(8540,'UniProt Function',NULL,10318,NULL,'Does not exhibit retinol dehydrogenase (RDH) activity in vitro.',NULL,NULL,NULL,NULL,NULL),(8541,'UniProt Function',NULL,10319,NULL,'Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3\'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity).',NULL,NULL,NULL,NULL,NULL),(8542,'UniProt Function',NULL,10320,NULL,'Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2 and GRIK2) and serotonin (HTR2C), GABA receptor (GABRA3) and potassium voltage-gated channel (KCNA1). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alter their functional activities. Edits GRIA2 at both the Q/R and R/G sites efficiently but converts the adenosine in hotspot1 much less efficiently. Can exert a proviral effect towards human immunodeficiency virus type 1 (HIV-1) and enhances its replication via both an editing-dependent and editing-independent mechanism. The former involves editing of adenosines in the 5\'UTR while the latter occurs via suppression of EIF2AK2/PKR activation and function. Can inhibit cell proliferation and migration and can stimulate exocytosis.',NULL,NULL,NULL,NULL,NULL),(8543,'UniProt Function',NULL,10321,NULL,'Calcium-independent lectin displaying mannose-binding specificity and able to maintain carbohydrate recognition activity in an acidic environment. May be involved in inflammatory and metaplastic responses of the gastrointestinal epithelium.',NULL,NULL,NULL,NULL,NULL),(8544,'UniProt Function',NULL,10322,NULL,'Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. However, UPF3A is shown to be only marginally active in NMD as compared to UPF3B. Binds spliced mRNA upstream of exon-exon junctions. In vitro, weakly stimulates translation.',NULL,NULL,NULL,NULL,NULL),(8545,'UniProt Function',NULL,10323,NULL,'Catalyzes the interconversion of N-acetylglucosamine to N-acetylmannosamine. Binds to renin forming a protein complex called high molecular weight (HMW) renin and inhibits renin activity. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded.',NULL,NULL,NULL,NULL,NULL),(8546,'UniProt Function',NULL,10324,NULL,'Regulates intracellular cholesterol distribution from recycling endosomes to the trans-Golgi network through interactions with RAB11 and OSBP (PubMed:29514919). Functions in membrane tethering and promotes OSBP-mediated cholesterol transfer between RAB11-bound recycling endosomes and OSBP-bound Golgi-like membranes (PubMed:29514919).',NULL,NULL,NULL,NULL,NULL),(8547,'UniProt Function',NULL,10325,NULL,'Promotes endothelial cell sprouting and actin cytoskeletal reorganization. May be involved in angiogenesis. May function in Ca(2+) signaling.',NULL,NULL,NULL,NULL,NULL),(8548,'UniProt Function',NULL,10326,NULL,'May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane.',NULL,NULL,NULL,NULL,NULL),(8549,'UniProt Function',NULL,10328,NULL,'Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin (PubMed:20148032, PubMed:25497100). Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the promoter of target genes (PubMed:20148032). Involved in glucose-stimulated insulin secretion by promoting insulin and L-type calcium channel gene transcription (PubMed:25497100).',NULL,NULL,NULL,NULL,NULL),(8550,'UniProt Function',NULL,10330,NULL,'Pre-mRNA alternative splicing regulator. Regulates alternative splicing of RBFOX2 to enhance the production of mRNA species that are targeted for nonsense-mediated decay (NMD).',NULL,NULL,NULL,NULL,NULL),(8551,'UniProt Function',NULL,10331,NULL,'Guanine nucleotide exchange factor (GEF).',NULL,NULL,NULL,NULL,NULL),(8552,'UniProt Function',NULL,10334,NULL,'Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the muscarinic acetylcholine receptor CHRM2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:8774883, PubMed:10608901, PubMed:9353196, PubMed:11443111, PubMed:18434541). Modulates the activity of potassium channels that are activated in response to CHRM2 signaling (PubMed:11443111). Activity on GNAZ is inhibited by palmitoylation of the G-protein (PubMed:9353196).',NULL,NULL,NULL,NULL,NULL),(8553,'UniProt Function',NULL,10335,NULL,'As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP activates the ATR kinase a master regulator of the DNA damage response. It is required for the recruitment of the DNA double-strand break repair factors RAD51 and RAD52 to chromatin in response to DNA damage. Also recruits to sites of DNA damage proteins like XPA and XPG that are involved in nucleotide excision repair and is required for this mechanism of DNA repair. Plays also a role in base excision repair (BER) probably through interaction with UNG. Also recruits SMARCAL1/HARP, which is involved in replication fork restart, to sites of DNA damage. May also play a role in telomere maintenance.',NULL,NULL,NULL,NULL,NULL),(8554,'UniProt Function',NULL,10336,NULL,'As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage (PubMed:9430682). In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP activates the ATR kinase a master regulator of the DNA damage response (PubMed:24332808). It is required for the recruitment of the DNA double-strand break repair factors RAD51 and RAD52 to chromatin, in response to DNA damage. Also recruits to sites of DNA damage proteins like XPA and XPG that are involved in nucleotide excision repair and is required for this mechanism of DNA repair (PubMed:7697716). Plays also a role in base excision repair (BER), probably through interaction with UNG (PubMed:9765279). Also recruits SMARCAL1/HARP, which is involved in replication fork restart, to sites of DNA damage. May also play a role in telomere maintenance. RPA3 has its own single-stranded DNA-binding activity and may be responsible for polarity of the binding of the complex to DNA (PubMed:19010961). As part of the alternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared to the RPA2-containing, canonical RPA complex, may not support chromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNA polymerase alpha but could support DNA synthesis by polymerase delta in presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange (PubMed:19996105).',NULL,NULL,NULL,NULL,NULL),(8555,'UniProt Function',NULL,10337,NULL,'Negatively regulates the G2-M phase transition, possibly by promoting cyclin B1/CCNB1 and CDK1 proteasomal degradation and thereby preventing their accumulation during interphase.',NULL,NULL,NULL,NULL,NULL),(8556,'UniProt Function',NULL,10338,NULL,'Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form.',NULL,NULL,NULL,NULL,NULL),(8557,'UniProt Function',NULL,10339,NULL,'GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP-bound states. May act as a GAP for CDC42 and RAC1. Endosomal recycling protein which, in association with SHANK3, is involved in synaptic plasticity. Promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation.',NULL,NULL,NULL,NULL,NULL),(8558,'UniProt Function',NULL,10340,NULL,'GTPase activator for the Rho, Rac and Cdc42 proteins, converting them to the putatively inactive GDP-bound state. Cdc42 seems to be the preferred substrate.',NULL,NULL,NULL,NULL,NULL),(8559,'UniProt Function',NULL,10341,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.',NULL,NULL,NULL,NULL,NULL),(8560,'UniProt Function',NULL,10342,NULL,'May be involved in several stages of intracellular trafficking. Could play an important role in the regulation of glucose transport by insulin. May act as a downstream effector of RHOQ/TC10 in the regulation of insulin-stimulated glucose transport (By similarity).',NULL,NULL,NULL,NULL,NULL),(8561,'UniProt Function',NULL,10343,NULL,'Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Causes the formation of thin, actin-rich surface projections called filopodia. Functions cooperatively with CDC42 and Rac to generate additional structures, increasing the diversity of actin-based morphology.',NULL,NULL,NULL,NULL,NULL),(8562,'UniProt Function',NULL,10344,NULL,'Required for the formation of membrane ruffles during macropinocytosis. Plays a role in cell migration and is required for the formation of cup-like structures during trans-endothelial migration of leukocytes. In case of Salmonella enterica infection, activated by SopB and ARHGEF26/SGEF, which induces cytoskeleton rearrangements and promotes bacterial entry.',NULL,NULL,NULL,NULL,NULL),(8563,'UniProt Function',NULL,10345,NULL,'Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(8564,'UniProt Function',NULL,10346,NULL,'Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(8565,'UniProt Function',NULL,10348,NULL,'Catalyzes the hydrolytic deamination of enamine/imine intermediates that form during the course of normal metabolism. May facilitate the release of ammonia from these potentially toxic reactive metabolites, reducing their impact on cellular components. It may act on enamine/imine intermediates formed by several types of pyridoxal-5\'-phosphate-dependent dehydratases including L-threonine dehydratase.',NULL,NULL,NULL,NULL,NULL),(8566,'UniProt Function',NULL,10348,NULL,'May also function as an endoribonuclease, cleaving mRNA phosphodiester bonds of single-stranded RNA (By similarity). Thereby, may inhibit protein translation (PubMed:8973653).',NULL,NULL,NULL,NULL,NULL),(8567,'UniProt Function',NULL,10349,NULL,'Key regulator of TP53BP1 that plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage: acts by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs (PubMed:15342490, PubMed:28241136). In response to DNA damage, interacts with ATM-phosphorylated TP53BP1 (PubMed:23333306, PubMed:28241136). Interaction with TP53BP1 leads to dissociate the interaction between NUDT16L1/TIRR and TP53BP1, thereby unmasking the tandem Tudor-like domain of TP53BP1 and allowing recruitment to DNA DSBs (PubMed:28241136). Once recruited to DSBs, RIF1 and TP53BP1 act by promoting NHEJ-mediated repair of DSBs (PubMed:23333306). In the same time, RIF1 and TP53BP1 specifically counteract the function of BRCA1 by blocking DSBs resection via homologous recombination (HR) during G1 phase (PubMed:23333306). Also required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (By similarity). Promotes NHEJ of dysfunctional telomeres (By similarity).',NULL,NULL,NULL,NULL,NULL),(8568,'UniProt Function',NULL,10351,NULL,'Rab effector involved in exocytosis. May act as scaffold protein. Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(8569,'UniProt Function',NULL,10352,NULL,'Downstream effector protein for Rho-type small GTPases that plays a role in cell polarity and directional migration (PubMed:27807006). Acts as an adapter protein, linking active Rho proteins to STK24 and STK26 kinases, and hence positively regulates Golgi reorientation in polarized cell migration upon Rho activation (PubMed:27807006). Involved in the subcellular relocation of STK26 from the Golgi to cytoplasm punctae in a Rho- and PDCD10-dependent manner upon serum stimulation (PubMed:27807006).',NULL,NULL,NULL,NULL,NULL),(8570,'UniProt Function',NULL,10353,NULL,'Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP.',NULL,NULL,NULL,NULL,NULL),(8571,'UniProt Function',NULL,10354,NULL,'Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. May play a role in cell cycle checkpoint control (PubMed:11096100). Essential for telomere length control (PubMed:16600870).',NULL,NULL,NULL,NULL,NULL),(8572,'UniProt Function',NULL,10355,NULL,'May be involved in vascular wall and kidney homeostasis.',NULL,NULL,NULL,NULL,NULL),(8573,'UniProt Function',NULL,10356,NULL,'Bactericidal C-type lectin which acts exclusively against Gram-positive bacteria and mediates bacterial killing by binding to surface-exposed carbohydrate moieties of peptidoglycan. Regulates keratinocyte proliferation and differentiation after skin injury via activation of EXTL3-PI3K-AKT signaling pathway.',NULL,NULL,NULL,NULL,NULL),(8574,'UniProt Function',NULL,10357,NULL,'Regulates transferrin receptor recycling from the endocytic recycling compartment.',NULL,NULL,NULL,NULL,NULL),(8575,'UniProt Function',NULL,10358,NULL,'May promote functional cell surface expression of olfactory receptors.',NULL,NULL,NULL,NULL,NULL),(8576,'UniProt Function',NULL,10359,NULL,'May play a role in intracellular protein transport from the endoplasmic reticulum to the cell surface (By similarity). Required for correct function and survival of retinal photoreceptors (PubMed:27889058).',NULL,NULL,NULL,NULL,NULL),(8577,'UniProt Function',NULL,10360,NULL,'Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. The NF-kappa-B heterodimer RELA/p65-c-Rel is a transcriptional activator.',NULL,NULL,NULL,NULL,NULL),(8578,'UniProt Function',NULL,10361,NULL,'Functions as a renin and prorenin cellular receptor. May mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS).',NULL,NULL,NULL,NULL,NULL),(8579,'UniProt Function',NULL,10362,NULL,'Hormone that seems to suppress insulin ability to stimulate glucose uptake into adipose cells (By similarity). Potentially links obesity to diabetes (By similarity). Promotes chemotaxis in myeloid cells (PubMed:15064728).',NULL,NULL,NULL,NULL,NULL),(8580,'UniProt Function',NULL,10363,NULL,'A Rab11 effector protein involved in the endosomal recycling process. Also involved in controlling membrane trafficking along the phagocytic pathway and in phagocytosis.',NULL,NULL,NULL,NULL,NULL),(8581,'UniProt Function',NULL,10364,NULL,'A Rab11 effector binding preferentially phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and phosphatidic acid (PA) and acting in the regulation of the transport of vesicles from the endosomal recycling compartment (ERC) to the plasma membrane. Involved in insulin granule exocytosis. Also involved in receptor-mediated endocytosis and membrane trafficking of recycling endosomes, probably originating from clathrin-coated vesicles. Required in a complex with MYO5B and RAB11 for the transport of NPC1L1 to the plasma membrane. Also acts as a regulator of cell polarity.',NULL,NULL,NULL,NULL,NULL),(8582,'UniProt Function',NULL,10365,NULL,'Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism.',NULL,NULL,NULL,NULL,NULL),(8583,'UniProt Function',NULL,10366,NULL,'Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form.',NULL,NULL,NULL,NULL,NULL),(8584,'UniProt Function',NULL,10366,NULL,'Isoform 5: Behaves as a cell cycle-dependent transcriptional repressor, promoting inhibition of S-phase DNA synthesis.',NULL,NULL,NULL,NULL,NULL),(8585,'UniProt Function',NULL,10367,NULL,'Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development.',NULL,NULL,NULL,NULL,NULL),(8586,'UniProt Function',NULL,10368,NULL,'Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(8587,'UniProt Function',NULL,10369,NULL,'Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development.',NULL,NULL,NULL,NULL,NULL),(8588,'UniProt Function',NULL,10370,NULL,'Ras effector protein, which may serve as an inhibitory modulator of neuronal plasticity in aversive memory formation. Can affect Ras signaling at different levels. First, by competing with RAF1 protein for binding to activated Ras. Second, by enhancing signaling from ABL1 and ABL2, which regulate cytoskeletal remodeling. Third, by activating RAB5A, possibly by functioning as a guanine nucleotide exchange factor (GEF) for RAB5A, by exchanging bound GDP for free GTP, and facilitating Ras-activated receptor endocytosis.',NULL,NULL,NULL,NULL,NULL),(8589,'UniProt Function',NULL,10371,NULL,'Essential for necroptosis, a programmed cell death process in response to death-inducing TNF-alpha family members. Upon induction of necrosis, RIPK3 interacts with, and phosphorylates RIPK1 and MLKL to form a necrosis-inducing complex. RIPK3 binds to and enhances the activity of three metabolic enzymes: GLUL, GLUD1, and PYGL. These metabolic enzymes may eventually stimulate the tricarboxylic acid cycle and oxidative phosphorylation, which could result in enhanced ROS production.',NULL,NULL,NULL,NULL,NULL),(8590,'UniProt Function',NULL,10372,NULL,'Regulates cellular senescence through inhibition of PTEN translation. Acts as a pro-apoptotic regulator in response to DNA damage.',NULL,NULL,NULL,NULL,NULL),(8591,'UniProt Function',NULL,10374,NULL,'Lipid-modifying enzyme that acts as major regulator of adipocyte lipolysis by catalyzing the release of fatty acids from phospholipids in adipose tissue (PubMed:19615464, PubMed:19047760, PubMed:20837014, PubMed:22605381, PubMed:22923616). Shows phospholipase A1 and A2 activity, catalyzing the calcium-independent hydrolysis of acyl groups in various phosphatidylcholines (PC) and phosphatidylethanolamine (PE) (PubMed:19615464, PubMed:19047760, PubMed:20837014, PubMed:22605381, PubMed:22923616). For most substrates, phospholipase A1 activity is much higher than phospholipase A2 activity (PubMed:19047760). Phospholipase activity causes decreased intracellular levels of ether-type lipids, affecting peroxisome metabolism (By similarity). May also have acyltransferase activity: catalyzes both N-acylation of phosphatidylethanolamine to form N-acyl-phosphatidylethanolamine and O-acylation of lyso-phosphatidylcholines to form phosphatidylcholines (PubMed:22605381, PubMed:25383759). The relevance of acyltransferase activity in vivo is however unclear and would require additional evidences (PubMed:22605381, PubMed:25383759). Also has weak lysophospholipase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(8592,'UniProt Function',NULL,10374,NULL,'(Microbial infection) Acts as a host factor for picornaviruses: required during early infection to promote viral genome release into the cytoplasm (PubMed:28077878). May act as a cellular sensor of membrane damage at sites of virus entry, which relocalizes to sites of membrane rupture upon virus unfection (PubMed:28077878). Facilitates safe passage of the RNA away from LGALS8, enabling viral genome translation by host ribosome (PubMed:28077878). May also be involved in initiating pore formation, increasing pore size or in maintaining pores for genome delivery (PubMed:28077878). The lipid-modifying enzyme activity is required for this process (PubMed:28077878).',NULL,NULL,NULL,NULL,NULL),(8593,'UniProt Function',NULL,10375,NULL,'Has a preference for arachidonic acid at the sn-2 position of phosphatidylcholine as compared with palmitic acid.',NULL,NULL,NULL,NULL,NULL),(8594,'UniProt Function',NULL,10376,NULL,'Plays a role in the physiological regulation of the intracellular CoA concentration.',NULL,NULL,NULL,NULL,NULL),(8595,'UniProt Function',NULL,10377,NULL,'Functions as a spatial regulator of RAF1 kinase by sequestrating it to the Golgi.',NULL,NULL,NULL,NULL,NULL),(8596,'UniProt Function',NULL,10378,NULL,'Receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis.',NULL,NULL,NULL,NULL,NULL),(8597,'UniProt Function',NULL,10379,NULL,'Involved in non-homologous end joining (NHEJ), a major pathway to repair double-strand breaks in DNA. May act as a scaffold required to stabilize the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at double-strand break sites and promote the assembly and/or stability of the NHEJ machinery.',NULL,NULL,NULL,NULL,NULL),(8598,'UniProt Function',NULL,10380,NULL,'Transcription factor playing a role in myogenesis through regulation of muscle precursor cells proliferation.',NULL,NULL,NULL,NULL,NULL),(8599,'UniProt Function',NULL,10381,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8600,'UniProt Function',NULL,10382,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8601,'UniProt Function',NULL,10383,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8602,'UniProt Function',NULL,10384,NULL,'Plays an essential role for normal photoreceptor cell maintenance and vision.',NULL,NULL,NULL,NULL,NULL),(8603,'UniProt Function',NULL,10385,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8604,'UniProt Function',NULL,10386,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8605,'UniProt Function',NULL,10387,NULL,'Binds the sequence 5\'-ATCAATCAA-3\'. Acts as a transcriptional activator of PF4 in complex with MEIS1. Converted into a potent transcriptional activator by the (1;19) translocation. May have a role in steroidogenesis and, subsequently, sexual development and differentiation. Isoform PBX1b as part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Probably in complex with MEIS2, is involved in transcriptional regulation by KLF4. Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B. Together with NKX2-5, it is required for spleen development through a mechanism that involves CDKN2B repression (By similarity).',NULL,NULL,NULL,NULL,NULL),(8606,'UniProt Function',NULL,10388,NULL,'May play a role in cilium morphogenesis.',NULL,NULL,NULL,NULL,NULL),(8607,'UniProt Function',NULL,10389,NULL,'Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.',NULL,NULL,NULL,NULL,NULL),(8608,'UniProt Function',NULL,10390,NULL,'Functions as a modulator of calcium-binding by calmodulin. Thereby, regulates calmodulin activity and the different processes it controls (PubMed:19106096, PubMed:23204517, PubMed:27876793). For instance, may play a role in neuronal differentiation through activation of calmodulin-dependent kinase signaling pathways (PubMed:21491429).',NULL,NULL,NULL,NULL,NULL),(8609,'UniProt Function',NULL,10391,NULL,'Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes (PubMed:18983167). May be involved in maintaining basal levels of the cyclic nucleotide and/or in the cAMP regulation of germ cell development (PubMed:18983167). Binding to RAF1 reduces RAF1 \'Ser-259\' inhibitory-phosphorylation and stimulates RAF1-dependent EGF-activated ERK-signaling (PubMed:23509299). Protects against cell death induced by hydrogen peroxide and staurosporine (PubMed:23509299).',NULL,NULL,NULL,NULL,NULL),(8610,'UniProt Function',NULL,10392,NULL,'Receptor for prostaglandin D2 (PGD2). The activity of this receptor is mainly mediated by G(s) proteins that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP. A mobilization of calcium is also observed, but without formation of inositol 1,4,5-trisphosphate (By similarity).',NULL,NULL,NULL,NULL,NULL),(8611,'UniProt Function',NULL,10393,NULL,'This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations, functions as a chaperone that inhibits aggregation of misfolded proteins. At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chaperones in the structural modification of the TG precursor in hormone biogenesis. Also acts a structural subunit of various enzymes such as prolyl 4-hydroxylase and microsomal triacylglycerol transfer protein MTTP. Receptor for LGALS9; the interaction retains P4HB at the cell surface of Th2 T helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307).',NULL,NULL,NULL,NULL,NULL),(8612,'UniProt Function',NULL,10395,NULL,'Calcium sensor that plays a key role in processes such as endoplasmic reticulum (ER)-Golgi vesicular transport, endosomal biogenesis or membrane repair. Acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium: calcium-binding triggers exposure of apolar surface, promoting interaction with different sets of proteins thanks to 3 different hydrophobic pockets, leading to translocation to membranes (PubMed:20691033, PubMed:25667979). Involved in ER-Golgi transport by promoting the association between PDCD6IP and TSG101, thereby bridging together the ESCRT-III and ESCRT-I complexes (PubMed:19520058). Together with PEF1, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in ER-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PEF1 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Involved in the regulation of the distribution and function of MCOLN1 in the endosomal pathway (PubMed:19864416). Promotes localization and polymerization of TFG at endoplasmic reticulum exit site (PubMed:27813252). Required for T-cell receptor-, Fas-, and glucocorticoid-induced apoptosis (By similarity). May mediate Ca(2+)-regulated signals along the death pathway: interaction with DAPK1 can accelerate apoptotic cell death by increasing caspase-3 activity (PubMed:16132846). Its role in apoptosis may however be indirect, as suggested by knockout experiments (By similarity). May inhibit KDR/VEGFR2-dependent angiogenesis; the function involves inhibition of VEGF-induced phosphorylation of the Akt signaling pathway (PubMed:21893193). In case of infection by HIV-1 virus, indirectly inhibits HIV-1 production by affecting viral Gag expression and distribution (PubMed:27784779).',NULL,NULL,NULL,NULL,NULL),(8613,'UniProt Function',NULL,10395,NULL,'Isoform 2: Has a lower Ca(2+) affinity than isoform 1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(8614,'UniProt Function',NULL,10397,NULL,'May function as a chaperone that inhibits aggregation of misfolded proteins (PubMed:12204115). Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1, which in turn inactivates ERN1 signaling (PubMed:24508390). May also regulate the UPR via the EIF2AK3 UPR sensor (PubMed:24508390). Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin (PubMed:15466936).',NULL,NULL,NULL,NULL,NULL),(8615,'UniProt Function',NULL,10398,NULL,'Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism in response to prolonged fasting and starvation. Plays an important role in maintaining normal blood glucose levels under starvation, and is involved in the insulin signaling cascade. Via its regulation of pyruvate dehydrogenase activity, plays an important role in maintaining normal blood pH and in preventing the accumulation of ketone bodies under starvation. In the fed state, mediates cellular responses to glucose levels and to a high-fat diet. Regulates both fatty acid oxidation and de novo fatty acid biosynthesis. Plays a role in the generation of reactive oxygen species. Protects detached epithelial cells against anoikis. Plays a role in cell proliferation via its role in regulating carbohydrate and fatty acid metabolism.',NULL,NULL,NULL,NULL,NULL),(8616,'UniProt Function',NULL,10399,NULL,'Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May have a role in muscle signal transduction.',NULL,NULL,NULL,NULL,NULL),(8617,'UniProt Function',NULL,10400,NULL,'Over-expression suppresses AP1, CREB, NFAT, and NF-kB transcriptional activation, and delays cell cycle progression at S phase.',NULL,NULL,NULL,NULL,NULL),(8618,'UniProt Function',NULL,10401,NULL,'Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. Can hydrolyze both cAMP and cGMP, but has higher affinity for cAMP and is more efficient with cAMP as substrate. May play a critical role in regulating cAMP and cGMP levels in the striatum, a region of the brain that contributes to the control of movement and cognition.',NULL,NULL,NULL,NULL,NULL),(8619,'UniProt Function',NULL,10402,NULL,'Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.',NULL,NULL,NULL,NULL,NULL),(8620,'UniProt Function',NULL,10403,NULL,'Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5\'-TGTGGT-3\', or very rarely, 5\'-TGCGGT-3\', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation.',NULL,NULL,NULL,NULL,NULL),(8621,'UniProt Function',NULL,10404,NULL,'May enhance cellular proliferation. May reduce growth inhibitory activity of CDKN2A.',NULL,NULL,NULL,NULL,NULL),(8622,'UniProt Function',NULL,10405,NULL,'Calcium-binding protein that acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium. Together with PDCD6, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in endoplasmic reticulum (ER)-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PDCD6 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Its role in the heterodimer formed with PDCD6 is however unclear: some evidences show that PEF1 and PDCD6 work together and promote association between PDCD6 and SEC31 in presence of calcium (PubMed:27716508). Other reports show that PEF1 dissociates from PDCD6 in presence of calcium, and may act as a negative regulator of PDCD6 (PubMed:11278427). Also acts as a negative regulator of ER-Golgi transport; possibly by inhibiting interaction between PDCD6 and SEC31 (By similarity).',NULL,NULL,NULL,NULL,NULL),(8623,'UniProt Function',NULL,10406,NULL,'Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarization, neurons adhesion, migration and differentiation, and growth-factor induced formation of membrane ruffles. Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity in macrophages. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. Stimulates PKN2 kinase activity. In concert with RAB7A, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. In podocytes, promotes nuclear shuttling of NR3C2; this modulation is required for a proper kidney functioning. Required for atypical chemokine receptor ACKR2-induced LIMK1-PAK1-dependent phosphorylation of cofilin (CFL1) and for up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3.',NULL,NULL,NULL,NULL,NULL),(8624,'UniProt Function',NULL,10406,NULL,'Isoform B has an accelerated GEF-independent GDP/GTP exchange and an impaired GTP hydrolysis, which is restored partially by GTPase-activating proteins. It is able to bind to the GTPase-binding domain of PAK but not full-length PAK in a GTP-dependent manner, suggesting that the insertion does not completely abolish effector interaction.',NULL,NULL,NULL,NULL,NULL),(8625,'UniProt Function',NULL,10407,NULL,'Antimicrobial agent which utilizes hydrogen peroxide and thiocyanate (SCN) to generate the antimicrobial substance hypothiocyanous acid (HOSCN) (By similarity). May contribute to airway host defense against infection.',NULL,NULL,NULL,NULL,NULL),(8626,'UniProt Function',NULL,10408,NULL,'Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.',NULL,NULL,NULL,NULL,NULL),(8627,'UniProt Function',NULL,10409,NULL,'Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins.',NULL,NULL,NULL,NULL,NULL),(8628,'UniProt Function',NULL,10410,NULL,'Involved in DNA repair and mitotic recombination. Functions in the recombinational DNA repair (RAD52) pathway. Dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Could be involved in the turnover of RAD51 protein-dsDNA filaments (By similarity). May play also an essential role in telomere length maintenance and telomere capping in mammalian cells.',NULL,NULL,NULL,NULL,NULL),(8629,'UniProt Function',NULL,10411,NULL,'Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.',NULL,NULL,NULL,NULL,NULL),(8630,'UniProt Function',NULL,10412,NULL,'Inhibitor of angiogenesis. Inhibitor of endothelial cell chemotaxis (in vitro).',NULL,NULL,NULL,NULL,NULL),(8631,'UniProt Function',NULL,10413,NULL,'Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins.',NULL,NULL,NULL,NULL,NULL),(8632,'UniProt Function',NULL,10414,NULL,'PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Does not exhibit detectable activity toward sn-2-arachidonoyl- or linoleoyl-phosphatidylcholine or -phosphatidylethanolamine.',NULL,NULL,NULL,NULL,NULL),(8633,'UniProt Function',NULL,10416,NULL,'Receptor for steroids.',NULL,NULL,NULL,NULL,NULL),(8634,'UniProt Function',NULL,10417,NULL,'Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at \'Thr-320\'. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to dephosphorylation and subsequent activation of cofilin (COF1 or COF2) and repression of the integrin signaling through the RHO/ROCK pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(8635,'UniProt Function',NULL,10418,NULL,'A phosphoprotein adapter involved in the XPO1-mediated U snRNA export from the nucleus. Bridge components required for U snRNA export, the cap binding complex (CBC)-bound snRNA on the one hand and the GTPase Ran in its active GTP-bound form together with the export receptor XPO1 on the other. Its phosphorylation in the nucleus is required for U snRNA export complex assembly and export, while its dephosphorylation in the cytoplasm causes export complex disassembly. It is recycled back to the nucleus via the importin alpha/beta heterodimeric import receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Its compartmentalized phosphorylation cycle may also contribute to the directionality of export. Binds strongly to m7G-capped U1 and U5 small nuclear RNAs (snRNAs) in a sequence-unspecific manner and phosphorylation-independent manner (By similarity). Plays also a role in the biogenesis of U3 small nucleolar RNA (snoRNA). Involved in the U3 snoRNA transport from nucleoplasm to Cajal bodies. Binds strongly to m7G-capped U3, U8 and U13 precursor snoRNAs and weakly to trimethylated (TMG)-capped U3, U8 and U13 snoRNAs. Binds also to telomerase RNA.',NULL,NULL,NULL,NULL,NULL),(8636,'UniProt Function',NULL,10419,NULL,'Mediates the hydrolyzis of oxidized nucleoside diphosphate derivatives. Hydrolyzes 8-oxo-7,8-dihydroguanine (8-oxo-Gua)-containing deoxyribo- and ribonucleoside diphosphates to the monophosphates. Hydrolyzes 8-oxo-dGDP and 8-oxo-GDP with the same efficiencies. Hydrolyzes also 8-OH-dADP and 2-OH-dADP. Exhibited no or minimal hydrolyzis activity against 8-oxo-dGTP, 8-oxo-GTP, dGTP, GTP, dGDP and GDP. Probably removes oxidized guanine nucleotides from both the DNA and RNA precursor pools.',NULL,NULL,NULL,NULL,NULL),(8637,'UniProt Function',NULL,10420,NULL,'Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery (PubMed:18573874). Required for maturation of extramitochondrial Fe-S proteins (PubMed:18573874). The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins (PubMed:18573874). Implicated in the regulation of centrosome duplication (By similarity). Negatively regulates cilium formation and structure (By similarity).',NULL,NULL,NULL,NULL,NULL),(8638,'UniProt Function',NULL,10421,NULL,'Chromatin-binding protein that converts stress signals into a program of gene expression that empowers cells with resistance to the stress induced by a change in their microenvironment. Interacts with MSL1 and inhibits its activity on histone H4 \'Lys-16\' acetylation (H4K16ac). Binds the RELB promoter and activates its transcription, leading to the transactivation of IER3. The NUPR1/RELB/IER3 survival pathway may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment. In breast cancer cells, NUPR1 overexpression leads to the activation of PI3K/AKT signaling pathway, CDKN1A/p21 phosphorylation and relocalization from the nucleus to the cytoplasm, leading to resistance to chemotherapeutic agents, such as doxorubicin.',NULL,NULL,NULL,NULL,NULL),(8639,'UniProt Function',NULL,10423,NULL,'Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2B.',NULL,NULL,NULL,NULL,NULL),(8640,'UniProt Function',NULL,10424,NULL,'Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2A. Targets MBD3 to discrete loci in the nucleus. May play a role in synapse development.',NULL,NULL,NULL,NULL,NULL),(8641,'UniProt Function',NULL,10425,NULL,'May bind RNA.',NULL,NULL,NULL,NULL,NULL),(8642,'UniProt Function',NULL,10426,NULL,'Inactive phospholipase.',NULL,NULL,NULL,NULL,NULL),(8643,'UniProt Function',NULL,10427,NULL,'Catalyzes the deimination of arginine residues of proteins.',NULL,NULL,NULL,NULL,NULL),(8644,'UniProt Function',NULL,10428,NULL,'Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 calcium channel activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(8645,'UniProt Function',NULL,10430,NULL,'This is a receptor for PACAP-27 and PACAP-38. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. May regulate the release of adrenocorticotropin, luteinizing hormone, growth hormone, prolactin, epinephrine, and catecholamine. May play a role in spermatogenesis and sperm motility. Causes smooth muscle relaxation and secretion in the gastrointestinal tract.',NULL,NULL,NULL,NULL,NULL),(8646,'UniProt Function',NULL,10431,NULL,'Catalyzes the citrullination/deimination of arginine residues of proteins such as histones, thereby playing a key role in histone code and regulation of stem cell maintenance. Citrullinates histone H1 at \'Arg-54\' (to form H1R54ci), histone H3 at \'Arg-2\', \'Arg-8\', \'Arg-17\' and/or \'Arg-26\' (to form H3R2ci, H3R8ci, H3R17ci, H3R26ci, respectively) and histone H4 at \'Arg-3\' (to form H4R3ci). Acts as a key regulator of stem cell maintenance by mediating citrullination of histone H1: citrullination of \'Arg-54\' of histone H1 (H1R54ci) results in H1 displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance. Promotes profound chromatin decondensation during the innate immune response to infection in neutrophils by mediating formation of H1R54ci. Citrullination of histone H3 prevents their methylation by CARM1 and HRMT1L2/PRMT1 and represses transcription. Citrullinates EP300/P300 at \'Arg-2142\', which favors its interaction with NCOA2/GRIP1.',NULL,NULL,NULL,NULL,NULL),(8647,'UniProt Function',NULL,10434,NULL,'Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5\'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3\'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway (PubMed:9576487, PubMed:9668121, PubMed:9648242, PubMed:14747722). Required for normal biosynthesis of sulfated L-selectin ligands in endothelial cells (PubMed:9576487).',NULL,NULL,NULL,NULL,NULL),(8648,'UniProt Function',NULL,10435,NULL,'Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (PubMed:12601167).',NULL,NULL,NULL,NULL,NULL),(8649,'UniProt Function',NULL,10436,NULL,'Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432, PubMed:23161870). Seems to act through a G(s) mediated pathway (PubMed:23161870). Involved in neurosteroid inhibition of apoptosis (PubMed:23161870). May be involved in regulating rapid P4 signaling in the nervous system (PubMed:23763432). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23763432, PubMed:23161870).',NULL,NULL,NULL,NULL,NULL),(8650,'UniProt Function',NULL,10437,NULL,'Transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(8651,'UniProt Function',NULL,10438,NULL,'Required to suppress inappropriate homologous recombination, thereby playing a central role DNA repair and in the maintenance of genomic stability. Antagonizes homologous recombination by interfering with the formation of the RAD51-DNA homologous recombination structure. Binds single-strand DNA and poly(A) homopolymers. Positively regulate the poly(ADP-ribosyl)ation activity of PARP1; however such function may be indirect.',NULL,NULL,NULL,NULL,NULL),(8652,'UniProt Function',NULL,10439,NULL,'Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes.',NULL,NULL,NULL,NULL,NULL),(8653,'UniProt Function',NULL,10440,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8654,'UniProt Function',NULL,10441,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8655,'UniProt Function',NULL,10442,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8656,'UniProt Function',NULL,10443,NULL,'Cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion).',NULL,NULL,NULL,NULL,NULL),(8657,'UniProt Function',NULL,10445,NULL,'Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087).',NULL,NULL,NULL,NULL,NULL),(8658,'UniProt Function',NULL,10446,NULL,'Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with TP53BP1 phosphorylated by ATM at \'Ser-25\'. Together with TP53BP1 regulates ATM association. Proposed to recruit PAGR1 to sites of DNA damage and the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage; the function is probably independent of MLL-containing histone methyltransferase (HMT) complexes. However, this function has been questioned (By similarity). Promotes ubiquitination of PCNA following UV irradiation and may regulate recruitment of polymerase eta and RAD51 to chromatin after DNA damage. Proposed to be involved in transcriptional regulation by linking MLL-containing histone methyltransferase (HMT) complexes to gene promoters by interacting with promoter-bound transcription factors such as PAX2. Associates with gene promoters that are known to be regulated by KMT2D/MLL2. During immunoglobulin class switching in activated B-cells is involved in trimethylation of histone H3 at \'Lys-4\' and in transcription initiation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus; this function appears to involve the recruitment of MLL-containing HMT complexes. Conflictingly, its function in transcriptional regulation during immunoglobulin class switching is reported to be independent of the MLL2/MLL3 complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(8659,'UniProt Function',NULL,10447,NULL,'Potential calcium-dependent cell-adhesion protein.',NULL,NULL,NULL,NULL,NULL),(8660,'UniProt Function',NULL,10449,NULL,'Required for B-cell survival through the regulation of the expression of cell-cycle checkpoint MAD2L1 protein during B cell differentiation (By similarity). Component of the TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, SEM1, and either centrin CETN2 or CETN3 (PubMed:22307388). The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery. Binds and stabilizes BRCA2 and is thus involved in the control of R-loop-associated DNA damage and transcription-associated genomic instability. R-loop accumulation does not increase in PCID2-depleted cells.',NULL,NULL,NULL,NULL,NULL),(8661,'UniProt Function',NULL,10450,NULL,'Transcriptional repressor. Binds specifically to the DNA sequence 5\'-GACTNGACT-3\'. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cells by maintaining expression of HES1. Also plays a role in antero-posterior specification of the axial skeleton and negative regulation of the self-renewal activity of hematopoietic stem cells (By similarity). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332).',NULL,NULL,NULL,NULL,NULL),(8662,'UniProt Function',NULL,10451,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8663,'UniProt Function',NULL,10452,NULL,'Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions (By similarity). Acts as a regulator of cell migration, probably via increasing cell-cell adhesion (PubMed:21402705). Promotes homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions (By similarity). Unable to bind to catenins, weakly associates with the cytoskeleton (By similarity).',NULL,NULL,NULL,NULL,NULL),(8664,'UniProt Function',NULL,10454,NULL,'Multifunctional protein involved in endocytosis, multivesicular body biogenesis, membrane repair, cytokinesis, apoptosis and maintenance of tight junction integrity. Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB) for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal membranes. The MVB pathway requires the sequential function of ESCRT-O, -I,-II and -III complexes (PubMed:14739459). The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:17853893, PubMed:17556548). Adapter for a subset of ESCRT-III proteins, such as CHMP4, to function at distinct membranes. Required for completion of cytokinesis (PubMed:17853893, PubMed:17556548, PubMed:18641129). May play a role in the regulation of both apoptosis and cell proliferation. Regulates exosome biogenesis in concert with SDC1/4 and SDCBP (PubMed:22660413). By interacting with F-actin, PARD3 and TJP1 secures the proper assembly and positioning of actomyosin-tight junction complex at the apical sides of adjacent epithelial cells that defines a spatial membrane domain essential for the maintenance of epithelial cell polarity and barrier (By similarity).',NULL,NULL,NULL,NULL,NULL),(8665,'UniProt Function',NULL,10454,NULL,'(Microbial infection) Involved in HIV-1 virus budding. Can replace TSG101 it its role of supporting HIV-1 release; this function requires the interaction with CHMP4B. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as enveloped virus budding (HIV-1 and other lentiviruses).',NULL,NULL,NULL,NULL,NULL),(8666,'UniProt Function',NULL,10455,NULL,'Involved in the costimulatory signal, essential for T-cell proliferation and IFNG production in a PDCD1-independent manner. Interaction with PDCD1 inhibits T-cell proliferation by blocking cell cycle progression and cytokine production (By similarity).',NULL,NULL,NULL,NULL,NULL),(8667,'UniProt Function',NULL,10456,NULL,'Enzyme that cleaves 2\',5\'-phosphodiester bond linking adenosines of the 5\'-triphosphorylated oligoadenylates, triphosphorylated oligoadenylates referred as 2-5A modulates the 2-5A system. This enzyme degraded triphosphorylated 2-5A to produce AMP and ATP. Also cleaves 3\',5\'-phosphodiester bond of oligoadenylates. Plays a role as a negative regulator of the The 2-5A system that is one of the major pathways for antiviral and antitumor functions induced by interferons (IFNs). Suppression of this enzyme induces reduction of viral replication in Hela cells, thus counteracting the antiviral pathway probably by inhibiting the 2-5A system.',NULL,NULL,NULL,NULL,NULL),(8668,'UniProt Function',NULL,10457,NULL,'May be a DNA-binding protein with a regulatory function. May play an important role in cell death and/or in regulation of cell proliferation.',NULL,NULL,NULL,NULL,NULL),(8669,'UniProt Function',NULL,10458,NULL,'Is involved in regulation of translation. Is preferentially associated with CBC-bound spliced mRNA-protein complexes during the pioneer round of mRNA translation. Contributes to enhanced translational efficiency of spliced over nonspliced mRNAs. Recruits activated ribosomal protein S6 kinase beta-1 I/RPS6KB1 to newly synthesized mRNA. Involved in nuclear mRNA export; probably mediated by association with the TREX complex.',NULL,NULL,NULL,NULL,NULL),(8670,'UniProt Function',NULL,10459,NULL,'Specifically hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes. Highly specific: compared to other members of the cyclic nucleotide phosphodiesterase family, has the highest affinity and selectivity for cGMP (PubMed:9624146, PubMed:18757755, PubMed:21483814). Specifically regulates natriuretic-peptide-dependent cGMP signaling in heart, acting as a regulator of cardiac hypertrophy in myocytes and muscle. Does not regulate nitric oxide-dependent cGMP in heart (PubMed:25799991). Additional experiments are required to confirm whether its ability to hydrolyze natriuretic-peptide-dependent cGMP is specific to heart or is a general feature of the protein (Probable). In brain, involved in cognitive function, such as learning and long-term memory (By similarity).',NULL,NULL,NULL,NULL,NULL),(8671,'UniProt Function',NULL,10460,NULL,'Promotes apoptosis when overexpressed.',NULL,NULL,NULL,NULL,NULL),(8672,'UniProt Function',NULL,10461,NULL,'Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes.',NULL,NULL,NULL,NULL,NULL),(8673,'UniProt Function',NULL,10462,NULL,'Acts as a chaperone for the angiogenic VEGF receptor KDR/VEGFR2, controlling its abundance and inhibiting its ubiquitination and degradation. Modulates the activation of caspases during apoptosis. Is a substrate for Orgyia pseudotsugata multicapsid polyhedrosis virus (OpMNPV) IAP-mediated ubiquitination.',NULL,NULL,NULL,NULL,NULL),(8674,'UniProt Function',NULL,10463,NULL,'Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.',NULL,NULL,NULL,NULL,NULL),(8675,'UniProt Function',NULL,10464,NULL,'Transports retinoic acid to the nucleus. Regulates the access of retinoic acid to the nuclear retinoic acid receptors.',NULL,NULL,NULL,NULL,NULL),(8676,'UniProt Function',NULL,10465,NULL,'Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. DNA cleavage by the RAG complex occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3\'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5\'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at \'Lys-4\' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In the RAG complex, RAG2 is not the catalytic component but is required for all known catalytic activities mediated by RAG1. It probably acts as a sensor of chromatin state that recruits the RAG complex to H3K4me3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(8677,'UniProt Function',NULL,10467,NULL,'Transposase that mediates sequence-specific genomic rearrangements (PubMed:26406119, PubMed:28504702). Can induce genomic rearrangements that inactivate the HPRT1 gene (PubMed:27491780).',NULL,NULL,NULL,NULL,NULL),(8678,'UniProt Function',NULL,10468,NULL,'Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development.',NULL,NULL,NULL,NULL,NULL),(8679,'UniProt Function',NULL,10468,NULL,'Endorepellin in an anti-angiogenic and anti-tumor peptide that inhibits endothelial cell migration, collagen-induced endothelial tube morphogenesis and blood vessel growth in the chorioallantoic membrane. Blocks endothelial cell adhesion to fibronectin and type I collagen. Anti-tumor agent in neovascularization. Interaction with its ligand, integrin alpha2/beta1, is required for the anti-angiogenic properties. Evokes a reduction in phosphorylation of receptor tyrosine kinases via alpha2/beta1 integrin-mediated activation of the tyrosine phosphatase, PTPN6.',NULL,NULL,NULL,NULL,NULL),(8680,'UniProt Function',NULL,10468,NULL,'The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activity.',NULL,NULL,NULL,NULL,NULL),(8681,'UniProt Function',NULL,10469,NULL,'Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all-trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP.',NULL,NULL,NULL,NULL,NULL),(8682,'UniProt Function',NULL,10470,NULL,'Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. Has a relaxing effect on smooth muscle. May play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function.',NULL,NULL,NULL,NULL,NULL),(8683,'UniProt Function',NULL,10471,NULL,'Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments. May act as a localization signal in PKB/AKT-mediated signaling.',NULL,NULL,NULL,NULL,NULL),(8684,'UniProt Function',NULL,10472,NULL,'Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface (By similarity).',NULL,NULL,NULL,NULL,NULL),(8685,'UniProt Function',NULL,10473,NULL,'This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region.',NULL,NULL,NULL,NULL,NULL),(8686,'UniProt Function',NULL,10474,NULL,'Displays phosphatase activity for serine/threonine residues, and, dephosphorylates and activates MAP3K5 kinase. Has apparently no phosphoglycerate mutase activity. May be regulator of mitochondrial dynamics. Substrate for a KEAP1-dependent ubiquitin ligase complex. Contributes to the repression of NFE2L2-dependent gene expression. Acts as a central mediator for programmed necrosis induced by TNF, by reactive oxygen species and by calcium ionophore.',NULL,NULL,NULL,NULL,NULL),(8687,'UniProt Function',NULL,10475,NULL,'Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. Required for normal development of the cardiovascular system. Required for normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, and for normal formation of a branched network of capillaries in kidney glomeruli. Promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation and activation of SRC family kinases. Promotes phosphorylation of PDCD6IP/ALIX and STAM. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor.',NULL,NULL,NULL,NULL,NULL),(8688,'UniProt Function',NULL,10476,NULL,'Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles (By similarity). Required both to stabilize the assembly of the exocyst complex and to localize functional exocyst complexes to the leading edge of migrating cells (By similarity). Required for suppression of apoptosis (PubMed:17875936). In late stages of cytokinesis, upon completion of the bridge formation between dividing cells, mediates exocyst recruitment to the midbody to drive abscission (PubMed:18756269).',NULL,NULL,NULL,NULL,NULL),(8689,'UniProt Function',NULL,10477,NULL,'Catalyzes the hydrolysis of glucose from the disaccharide unit linked to hydroxylysine residues of collagen and collagen-like proteins.',NULL,NULL,NULL,NULL,NULL),(8690,'UniProt Function',NULL,10478,NULL,'Essential for sperm motility and male fertility (PubMed:26677959). Not required for the completion of spermatogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(8691,'UniProt Function',NULL,10479,NULL,'Converts arachidonate to prostaglandin H2 (PGH2), a committed step in prostanoid synthesis. Involved in the constitutive production of prostanoids in particular in the stomach and platelets. In gastric epithelial cells, it is a key step in the generation of prostaglandins, such as prostaglandin E2 (PGE2), which plays an important role in cytoprotection. In platelets, it is involved in the generation of thromboxane A2 (TXA2), which promotes platelet activation and aggregation, vasoconstriction and proliferation of vascular smooth muscle cells.',NULL,NULL,NULL,NULL,NULL),(8692,'UniProt Function',NULL,10480,NULL,'Plays a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a GPER1-dependent manner. Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) and GPER1 to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL.',NULL,NULL,NULL,NULL,NULL),(8693,'UniProt Function',NULL,10481,NULL,'Glycerol-3-phosphate phosphatase hydrolyzing glycerol-3-phosphate into glycerol. Thereby, regulates the cellular levels of glycerol-3-phosphate a metabolic intermediate of glucose, lipid and energy metabolism. Was also shown to have a 2-phosphoglycolate phosphatase activity and a tyrosine-protein phosphatase activity. However, their physiological relevance is unclear (PubMed:26755581). In vitro, has also a phosphatase activity toward ADP, ATP, GDP and GTP (By similarity).',NULL,NULL,NULL,NULL,NULL),(8694,'UniProt Function',NULL,10482,NULL,'Component of adherens-type cell-cell and cell-matrix junctions. Lacks phosphoglucomutase activity.',NULL,NULL,NULL,NULL,NULL),(8695,'UniProt Function',NULL,10483,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility. Required for proper control of cellular levels of GMNN expression.',NULL,NULL,NULL,NULL,NULL),(8696,'UniProt Function',NULL,10484,NULL,'This protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (GPI-anchor) thus releasing these proteins from the membrane.',NULL,NULL,NULL,NULL,NULL),(8697,'UniProt Function',NULL,10485,NULL,'Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on \'Ser-473\' of AKT1, \'Ser-660\' of PRKCB isoform beta-II and \'Ser-657\' of PRKCA. Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of \'Ser-473\' of Akt triggers apoptosis and decreases cell proliferation. Also controls the phosphorylation of AKT3. Dephosphorylates STK4 on \'Thr-387\' leading to STK4 activation and apoptosis (PubMed:20513427). Dephosphorylates RPS6KB1 and is involved in regulation of cap-dependent translation (PubMed:21986499). Inhibits cancer cell proliferation and may act as a tumor suppressor. Dephosphorylation of PRKCA and PRKCB leads to their destabilization and degradation. Dephosphorylates RAF1 inhibiting its kinase activity (PubMed:24530606).',NULL,NULL,NULL,NULL,NULL),(8698,'UniProt Function',NULL,10486,NULL,'Acts as a positive regulator of hedgehog signaling and regulates ciliary function.',NULL,NULL,NULL,NULL,NULL),(8699,'UniProt Function',NULL,10486,NULL,'Isoform 1: Functions as a co-chaperone for CCT in the assembly of heterotrimeric G protein complexes, facilitates the assembly of both Gbeta-Ggamma and RGS-Gbeta5 heterodimers.',NULL,NULL,NULL,NULL,NULL),(8700,'UniProt Function',NULL,10486,NULL,'Isoform 2: Acts as a negative regulator of heterotrimeric G proteins assembly by trapping the preloaded G beta subunits inside the CCT chaperonin.',NULL,NULL,NULL,NULL,NULL),(8701,'UniProt Function',NULL,10487,NULL,'Catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post-transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Has no terminal uridylyltransferase activity, and does not play a role in replication-dependent histone mRNA degradation via uridylation.',NULL,NULL,NULL,NULL,NULL),(8702,'UniProt Function',NULL,10488,NULL,'High affinity receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation and in vascular development.',NULL,NULL,NULL,NULL,NULL),(8703,'UniProt Function',NULL,10489,NULL,'Metalloproteinase which specifically cleaves IGFBP-4 and IGFBP-5, resulting in release of bound IGF. Cleavage of IGFBP-4 is dramatically enhanced by the presence of IGF, whereas cleavage of IGFBP-5 is slightly inhibited by the presence of IGF.',NULL,NULL,NULL,NULL,NULL),(8704,'UniProt Function',NULL,10490,NULL,'Plays a role in the physiological regulation of the intracellular CoA concentration.',NULL,NULL,NULL,NULL,NULL),(8705,'UniProt Function',NULL,10491,NULL,'Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (PubMed:12601167). Involved in neurosteroid inhibition of apoptosis (PubMed:23161870). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870).',NULL,NULL,NULL,NULL,NULL),(8706,'UniProt Function',NULL,10492,NULL,'RNA-binding protein involved in deadenylation-dependent decapping of mRNAs, leading to the degradation of mRNAs. Acts as a scaffold protein that connects deadenylation and decapping machinery. Required for cytoplasmic mRNA processing body (P-body) assembly. In case of infection, required for translation and replication of hepatitis C virus (HCV).',NULL,NULL,NULL,NULL,NULL),(8707,'UniProt Function',NULL,10493,NULL,'May play a role in cell proliferation. May be required for the maintenance of cell cycle progression.',NULL,NULL,NULL,NULL,NULL),(8708,'UniProt Function',NULL,10494,NULL,'Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins.',NULL,NULL,NULL,NULL,NULL),(8709,'UniProt Function',NULL,10496,NULL,'May modulate the function of nicotinic acetylcholine receptors. May enhance sperm motility.',NULL,NULL,NULL,NULL,NULL),(8710,'UniProt Function',NULL,10497,NULL,'Plays a role in sarcomere organization and in smooth muscle cell contraction. Required for normal development of the embryonic cardiovascular system, and for normal septation of the heart outflow tract. Plays a role in sprouting angiogenesis and is required for normal adhesion of vascular smooth muscle cells to endothelial cells during blood vessel development (By similarity). Plays a role in the reorganization of the actin cytoskeleton, formation of lamellipodia and ciliogenesis. Plays a role in the establishement of cell polarity, cell adhesion, cell spreading, and directed cell migration.',NULL,NULL,NULL,NULL,NULL),(8711,'UniProt Function',NULL,10498,NULL,'3\'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development. Interacts with both the 3\'-end poly(A) tail and the 5\'-end cap structure during degradation, the interaction with the cap structure being required for an efficient degradation of poly(A) tails. Involved in nonsense-mediated mRNA decay, a critical process of selective degradation of mRNAs that contain premature stop codons. Also involved in degradation of inherently unstable mRNAs that contain AU-rich elements (AREs) in their 3\'-UTR, possibly via its interaction with KHSRP. Probably mediates the removal of poly(A) tails of AREs mRNAs, which constitutes the first step of destabilization (PubMed:10882133, PubMed:11359775, PubMed:12748283, PubMed:15175153, PubMed:9736620). Also able to recognize and trim poly(A) tails of microRNAs such as MIR21 and H/ACA box snoRNAs (small nucleolar RNAs) leading to microRNAs degradation or snoRNA increased stability (PubMed:25049417, PubMed:22442037).',NULL,NULL,NULL,NULL,NULL),(8712,'UniProt Function',NULL,10500,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8713,'UniProt Function',NULL,10501,NULL,'Has been shown to act both as an intestinal proton-coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important nutritional source of iron. Shows a higher affinity for folate than heme.',NULL,NULL,NULL,NULL,NULL),(8714,'UniProt Function',NULL,10502,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8715,'UniProt Function',NULL,10503,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8716,'UniProt Function',NULL,10504,NULL,'Cleaves C-terminal amino acids linked to proline in peptides such as angiotensin II, III and des-Arg9-bradykinin. This cleavage occurs at acidic pH, but enzymatic activity is retained with some substrates at neutral pH.',NULL,NULL,NULL,NULL,NULL),(8717,'UniProt Function',NULL,10505,NULL,'Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive and regulated secretory pathways. Plays an essential role in pregnancy establishment by proteolytic activation of a number of important factors such as BMP2, CALD1 and alpha-integrins.',NULL,NULL,NULL,NULL,NULL),(8718,'UniProt Function',NULL,10506,NULL,'Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in specific signaling in the thyroid gland.',NULL,NULL,NULL,NULL,NULL),(8719,'UniProt Function',NULL,10508,NULL,'Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks. May link the DNA damage surveillance network to the mitotic fidelity checkpoint. Negatively influences the G1/S cell cycle progression without interfering with centrosome duplication. Binds DNA. May be involved in the regulation of PRC2 and PRC3 complex-dependent gene silencing.',NULL,NULL,NULL,NULL,NULL),(8720,'UniProt Function',NULL,10509,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8721,'UniProt Function',NULL,10510,NULL,'Potential calcium-dependent cell-adhesion protein.',NULL,NULL,NULL,NULL,NULL),(8722,'UniProt Function',NULL,10511,NULL,'Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8723,'UniProt Function',NULL,10512,NULL,'Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for sex body formation. Promotes early steps of the DNA double-strand breaks (DSBs) repair process upstream of the assembly of RAD51 complexes. Required for depletion of HORMAD1 and HORMAD2 from synapsed chromosomes (By similarity). Plays a role in mitotic spindle assembly checkpoint (SAC) activation (PubMed:28553959).',NULL,NULL,NULL,NULL,NULL),(8724,'UniProt Function',NULL,10513,NULL,'Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway, with unique restricted distribution in both neuroendocrine and non-neuroendocrine tissues.',NULL,NULL,NULL,NULL,NULL),(8725,'UniProt Function',NULL,10514,NULL,'Receptor for prostaglandin D2 (PGD2). Coupled to the G(i)-protein. Receptor activation may result in pertussis toxin-sensitive decreases in cAMP levels and Ca(2+) mobilization. PI3K signaling is also implicated in mediating PTGDR2 effects. PGD2 induced receptor internalization. CRTH2 internalization can be regulated by diverse kinases such as, PKC, PKA, GRK2, GPRK5/GRK5 and GRK6. Receptor activation is responsible, at least in part, in immune regulation and allergic/inflammation responses.',NULL,NULL,NULL,NULL,NULL),(8726,'UniProt Function',NULL,10515,NULL,'Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This phosphodiesterase catalyzes the specific hydrolysis of cGMP to 5\'-GMP (PubMed:9714779, PubMed:15489334). Specifically regulates nitric-oxide-generated cGMP (PubMed:15489334).',NULL,NULL,NULL,NULL,NULL),(8727,'UniProt Function',NULL,10516,NULL,'This protein participates in processes of transmission and amplification of the visual signal.',NULL,NULL,NULL,NULL,NULL),(8728,'UniProt Function',NULL,10518,NULL,'May function in the process of apoptosis.',NULL,NULL,NULL,NULL,NULL),(8729,'UniProt Function',NULL,10519,NULL,'Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Plays an important role in cellular responses to hypoxia and is important for cell proliferation under hypoxia. Protects cells against apoptosis in response to hypoxia and oxidative stress.',NULL,NULL,NULL,NULL,NULL),(8730,'UniProt Function',NULL,10520,NULL,'Promotes the release of prenylated target proteins from cellular membranes (PubMed:9712853). Modulates the activity of prenylated or palmitoylated Ras family members by regulating their subcellular location (PubMed:22002721, PubMed:23698361). Required for normal ciliary targeting of farnesylated target proteins, such as INPP5E (PubMed:24166846). Modulates the subcellular location of target proteins by acting as a GTP specific dissociation inhibitor (GDI) (By similarity). Increases the affinity of ARL3 for GTP by several orders of magnitude. Stabilizes ARL3-GTP by decreasing the nucleotide dissociation rate (By similarity).',NULL,NULL,NULL,NULL,NULL),(8731,'UniProt Function',NULL,10521,NULL,'Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species.',NULL,NULL,NULL,NULL,NULL),(8732,'UniProt Function',NULL,10522,NULL,'Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen and chemoattractant for cells of mesenchymal origin. Required for normal skeleton formation during embryonic development, especially for normal development of the craniofacial skeleton and for normal development of the palate. Required for normal skin morphogenesis during embryonic development. Plays an important role in wound healing, where it appears to be involved in three stages: inflammation, proliferation and remodeling. Plays an important role in angiogenesis and blood vessel development. Involved in fibrotic processes, in which transformation of interstitial fibroblasts into myofibroblasts plus collagen deposition occurs. The CUB domain has mitogenic activity in coronary artery smooth muscle cells, suggesting a role beyond the maintenance of the latency of the PDGF domain. In the nucleus, PDGFC seems to have additional function.',NULL,NULL,NULL,NULL,NULL),(8733,'UniProt Function',NULL,10523,NULL,'Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Plays an important role in wound healing. Induces macrophage recruitment, increased interstitial pressure, and blood vessel maturation during angiogenesis. Can initiate events that lead to a mesangial proliferative glomerulonephritis, including influx of monocytes and macrophages and production of extracellular matrix (By similarity).',NULL,NULL,NULL,NULL,NULL),(8734,'UniProt Function',NULL,10524,NULL,'Cytoskeletal protein that may act as an adapter that brings other proteins (like kinases) to the cytoskeleton (PubMed:10861853). Involved in assembly, disassembly and directioning of stress fibers in fibroblasts. Required for the localization of ACTN1 and PALLD to stress fibers. Required for cell migration and in maintaining cell polarity of fibroblasts (By similarity).',NULL,NULL,NULL,NULL,NULL),(8735,'UniProt Function',NULL,10525,NULL,'Probable adapter protein located at the actin cytoskeleton that promotes cell attachment. Necessary for the migratory capacity of epithelial cells. Overexpression enhances cell adhesion to collagen and fibronectin and suppresses anchorage independent growth. May contribute to tumor cell migratory capacity.',NULL,NULL,NULL,NULL,NULL),(8736,'UniProt Function',NULL,10526,NULL,'May play a role in the organization of actin filament arrays within muscle cells.',NULL,NULL,NULL,NULL,NULL),(8737,'UniProt Function',NULL,10527,NULL,'Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress (By similarity).',NULL,NULL,NULL,NULL,NULL),(8738,'UniProt Function',NULL,10527,NULL,'Dynorphin peptides differentially regulate the kappa opioid receptor. Dynorphin A(1-13) has a typical opiod activity, it is 700 times more potent than Leu-enkephalin (By similarity).',NULL,NULL,NULL,NULL,NULL),(8739,'UniProt Function',NULL,10527,NULL,'Leumorphin has a typical opiod activity and may have anti-apoptotic effect.',NULL,NULL,NULL,NULL,NULL),(8740,'UniProt Function',NULL,10528,NULL,'Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues.',NULL,NULL,NULL,NULL,NULL),(8741,'UniProt Function',NULL,10530,NULL,'Coactivator of estrogen receptor-mediated transcription and a corepressor of other nuclear hormone receptors and sequence-specific transcription factors. Plays a role in estrogen receptor (ER) genomic activity when present in the nuclear compartment by activating the ER target genes in a hormonal stimulation dependent manner. Can facilitate ER non-genomic signaling via SRC and PI3K interaction in the cytosol. Plays a role in E2-mediated cell cycle progression by interacting with RB1. May have important functional implications in ER/growth factor cross-talk. Interacts with several growth factor signaling components including EGFR and HRS. Involved in nuclear receptor signaling via its interaction with AR and NR3C1. May promote tumorigenesis via its interaction with and modulation of several oncogenes including SRC, PI3K, STAT3 and EGFR. Plays a role in cancer cell metastasis via its ability to modulate E2-mediated cytoskeleton changes and cell migration via its interaction with SRC and PI3K. Functions as the key stabilizing component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit. Regulates pre-60S association of the critical remodeling factor MDN1 (PubMed:21326211).',NULL,NULL,NULL,NULL,NULL),(8742,'UniProt Function',NULL,10531,NULL,'Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent.',NULL,NULL,NULL,NULL,NULL),(8743,'UniProt Function',NULL,10532,NULL,'May play a role in the terminally differentiating and the adult nervous system during postnatal development. Could stabilize interactions between hyaluronan (HA) and brain proteoglycans.',NULL,NULL,NULL,NULL,NULL),(8744,'UniProt Function',NULL,10536,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8745,'UniProt Function',NULL,10537,NULL,'Inhibitory cell surface receptor involved in the regulation of T-cell function during immunity and tolerance. Upon ligand binding, inhibits T-cell effector functions in an antigen-specific manner. Possible cell death inducer, in association with other factors.',NULL,NULL,NULL,NULL,NULL),(8746,'UniProt Function',NULL,10538,NULL,'Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. May play a role in fat metabolism. Regulates cAMP binding of RAPGEF3. Through simultaneous binding to RAPGEF3 and PIK3R6 assembles a signaling complex in which the PI3K gamma complex is activated by RAPGEF3 and which is involved in angiogenesis.',NULL,NULL,NULL,NULL,NULL),(8747,'UniProt Function',NULL,10539,NULL,'Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal lung alveolar septum formation during embryogenesis, normal development of the gastrointestinal tract, normal development of Leydig cells and spermatogenesis. Required for normal oligodendrocyte development and normal myelination in the spinal cord and cerebellum. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFB (By similarity).',NULL,NULL,NULL,NULL,NULL),(8748,'UniProt Function',NULL,10540,NULL,'Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.',NULL,NULL,NULL,NULL,NULL),(8749,'UniProt Function',NULL,10541,NULL,'Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in mediating central nervous system effects of therapeutic agents ranging from antidepressants to antiasthmatic and anti-inflammatory agents.',NULL,NULL,NULL,NULL,NULL),(8750,'UniProt Function',NULL,10542,NULL,'Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin (PubMed:26599395). Required for normal proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta. Required for normal blood vessel development, and for normal development of kidney glomeruli. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFA (By similarity).',NULL,NULL,NULL,NULL,NULL),(8751,'UniProt Function',NULL,10544,NULL,'Blocks Ras-mediated inhibition of integrin activation and modulates the ERK MAP kinase cascade. Inhibits RPS6KA3 activities by retaining it in the cytoplasm (By similarity). Inhibits both TNFRSF6- and TNFRSF1A-mediated CASP8 activity and apoptosis. Regulates glucose transport by controlling both the content of SLC2A1 glucose transporters on the plasma membrane and the insulin-dependent trafficking of SLC2A4 from the cell interior to the surface.',NULL,NULL,NULL,NULL,NULL),(8752,'UniProt Function',NULL,10545,NULL,'Probable catalytically inactive kinase. Scaffolding protein that regulates the cytoskeleton to control cell spreading and migration by modulating focal adhesion dynamics (PubMed:23105102, PubMed:20534451). Acts as a scaffold for mediating EGFR signaling (PubMed:23846654).',NULL,NULL,NULL,NULL,NULL),(8753,'UniProt Function',NULL,10546,NULL,'Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-kappa-B (By similarity). Possesses a tumor suppressing activity in glioma cells.',NULL,NULL,NULL,NULL,NULL),(8754,'UniProt Function',NULL,10547,NULL,'E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates \'Lys-63\'-linked polyubiquitination of IRAK1 allowing subsequent NF-kappa-B activation (PubMed:12496252, PubMed:17675297). Mediates \'Lys-48\'-linked polyubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation; preferentially recognizes and mediates the degradation of the \'Thr-182\' phosphorylated form of RIPK3 (PubMed:29883609). Negatively regulates necroptosis by reducing RIPK3 expression (PubMed:29883609). Mediates \'Lys-63\'-linked ubiquitination of RIPK1 (PubMed:29883609).',NULL,NULL,NULL,NULL,NULL),(8755,'UniProt Function',NULL,10548,NULL,'Originally described as a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots \'circa\' (about) and \'diem\' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for \'timegivers\'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5\'-CACGTG-3\') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1, NR1D2, RORA, RORB and RORG, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. Has a redundant role with the other PER proteins PER1 and PER2 and is not essential for the circadian rhythms maintenance. In contrast, plays an important role in sleep-wake timing and sleep homeostasis probably through the transcriptional regulation of sleep homeostasis-related genes, without influencing circadian parameters. Can bind heme.',NULL,NULL,NULL,NULL,NULL),(8756,'UniProt Function',NULL,10549,NULL,'Component of intercellular desmosome junctions. Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly. Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(8757,'UniProt Function',NULL,10550,NULL,'Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins.',NULL,NULL,NULL,NULL,NULL),(8758,'UniProt Function',NULL,10551,NULL,'Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.',NULL,NULL,NULL,NULL,NULL),(8759,'UniProt Function',NULL,10552,NULL,'May affect the rate of fibrils formation.',NULL,NULL,NULL,NULL,NULL),(8760,'UniProt Function',NULL,10554,NULL,'Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development (PubMed:27807076). Notch glucosylation does not affect Notch ligand binding (PubMed:21490058). Required during early development to promote gastrulation: acts by mediating O-glucosylation of CRB2, which is required for CRB2 localization to the cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(8761,'UniProt Function',NULL,10556,NULL,'Acts as a ligand for vascular selectins. Mediates rapid rolling of leukocytes over vascular surfaces through high affinity divalent cation-dependent interactions with E-, P- and L-selectins.',NULL,NULL,NULL,NULL,NULL),(8762,'UniProt Function',NULL,10557,NULL,'Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase.',NULL,NULL,NULL,NULL,NULL),(8763,'UniProt Function',NULL,10558,NULL,'Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4).',NULL,NULL,NULL,NULL,NULL),(8764,'UniProt Function',NULL,10559,NULL,'Scaffolding protein involved in the recruitment, assembly and/or regulation of a variety of signaling molecules. Interacts with a wide variety of proteins and plays a role in many cellular processes. Component of the 40S ribosomal subunit involved in translational repression (PubMed:23636399). Involved in the initiation of the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation, by promoting ubiquitination of a subset of 40S ribosomal subunits (PubMed:28132843). Binds to and stabilizes activated protein kinase C (PKC), increasing PKC-mediated phosphorylation. May recruit activated PKC to the ribosome, leading to phosphorylation of EIF6. Inhibits the activity of SRC kinases including SRC, LCK and YES1. Inhibits cell growth by prolonging the G0/G1 phase of the cell cycle. Enhances phosphorylation of BMAL1 by PRKCA and inhibits transcriptional activity of the BMAL1-CLOCK heterodimer. Facilitates ligand-independent nuclear translocation of AR following PKC activation, represses AR transactivation activity and is required for phosphorylation of AR by SRC. Modulates IGF1R-dependent integrin signaling and promotes cell spreading and contact with the extracellular matrix. Involved in PKC-dependent translocation of ADAM12 to the cell membrane. Promotes the ubiquitination and proteasome-mediated degradation of proteins such as CLEC1B and HIF1A. Required for VANGL2 membrane localization, inhibits Wnt signaling, and regulates cellular polarization and oriented cell division during gastrulation. Required for PTK2/FAK1 phosphorylation and dephosphorylation. Regulates internalization of the muscarinic receptor CHRM2. Promotes apoptosis by increasing oligomerization of BAX and disrupting the interaction of BAX with the anti-apoptotic factor BCL2L. Inhibits TRPM6 channel activity. Regulates cell surface expression of some GPCRs such as TBXA2R. Plays a role in regulation of FLT1-mediated cell migration. Involved in the transport of ABCB4 from the Golgi to the apical bile canalicular membrane (PubMed:19674157). Promotes migration of breast carcinoma cells by binding to and activating RHOA (PubMed:20499158).',NULL,NULL,NULL,NULL,NULL),(8765,'UniProt Function',NULL,10559,NULL,'(Microbial infection) Binds to Y.pseudotuberculosis yopK which leads to inhibition of phagocytosis and survival of bacteria following infection of host cells.',NULL,NULL,NULL,NULL,NULL),(8766,'UniProt Function',NULL,10559,NULL,'(Microbial infection) Enhances phosphorylation of HIV-1 Nef by PKCs.',NULL,NULL,NULL,NULL,NULL),(8767,'UniProt Function',NULL,10559,NULL,'(Microbial infection) In case of poxvirus infection, remodels the ribosomes so that they become optimal for the viral mRNAs (containing poly-A leaders) translation but not for host mRNAs.',NULL,NULL,NULL,NULL,NULL),(8768,'UniProt Function',NULL,10559,NULL,'(Microbial infection) Contributes to the cap-independent internal ribosome entry site (IRES)-mediated translation by some RNA viruses.',NULL,NULL,NULL,NULL,NULL),(8769,'UniProt Function',NULL,10560,NULL,'E3 ubiquitin-protein ligase involved in postreplication repair of UV-damaged DNA. Postreplication repair functions in gap-filling of a daughter strand on replication of damaged DNA. Associates to the E2 ubiquitin conjugating enzyme UBE2B to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono-ubiquitination of DNA-associated PCNA on \'Lys-164\'. Has ssDNA binding activity.',NULL,NULL,NULL,NULL,NULL),(8770,'UniProt Function',NULL,10561,NULL,'Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair (PubMed:10846170, PubMed:10884395). The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex (PubMed:12578958). Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER) (PubMed:15871698). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3\'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates (PubMed:15314187, PubMed:15556996, PubMed:15871698). The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase (PubMed:21659603). Isoform 1 possesses 3\'->5\' double stranded DNA exonuclease activity (PubMed:9660799).',NULL,NULL,NULL,NULL,NULL),(8771,'UniProt Function',NULL,10562,NULL,'Cleavable component of the cohesin complex, involved in chromosome cohesion during cell cycle, in DNA repair, and in apoptosis. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At metaphase-anaphase transition, this protein is cleaved by separase/ESPL1 and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Also plays a role in apoptosis, via its cleavage by caspase-3/CASP3 or caspase-7/CASP7 during early steps of apoptosis: the C-terminal 64 kDa cleavage product may act as a nuclear signal to initiate cytoplasmic events involved in the apoptotic pathway.',NULL,NULL,NULL,NULL,NULL),(8772,'UniProt Function',NULL,10563,NULL,'Somewhat implicated in the biogenesis of peroxisomes.',NULL,NULL,NULL,NULL,NULL),(8773,'UniProt Function',NULL,10564,NULL,'Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3.',NULL,NULL,NULL,NULL,NULL),(8774,'UniProt Function',NULL,10565,NULL,'Required for protein import into peroxisomes.',NULL,NULL,NULL,NULL,NULL),(8775,'UniProt Function',NULL,10566,NULL,'Receptor for prostaglandin F2-alpha (PGF2-alpha). The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. Initiates luteolysis in the corpus luteum (By similarity). Isoforms 2 to 7 do not bind PGF2-alpha but are proposed to modulate signaling by participating in variant receptor complexes; heterodimers between isoform 1 and isoform 5 are proposed to be a receptor for prostamides including the synthetic analog bimatoprost.',NULL,NULL,NULL,NULL,NULL),(8776,'UniProt Function',NULL,10567,NULL,'Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins.',NULL,NULL,NULL,NULL,NULL),(8777,'UniProt Function',NULL,10568,NULL,'Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3\'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates. The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase. RAD9A possesses 3\'->5\' double stranded DNA exonuclease activity. Its phosphorylation by PRKCD may be required for the formation of the 9-1-1 complex.',NULL,NULL,NULL,NULL,NULL),(8778,'UniProt Function',NULL,10569,NULL,'Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity.',NULL,NULL,NULL,NULL,NULL),(8779,'UniProt Function',NULL,10570,NULL,'May confer resistance to the antitumor agent cisplatin. Binds to DNA and RNA.',NULL,NULL,NULL,NULL,NULL),(8780,'UniProt Function',NULL,10572,NULL,'Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (By similarity). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870).',NULL,NULL,NULL,NULL,NULL),(8781,'UniProt Function',NULL,10573,NULL,'Poly(ADP-ribose) synthesized after DNA damage is only present transiently and is rapidly degraded by poly(ADP-ribose) glycohydrolase (PubMed:23102699). PARG acts both as an endo- and exoglycosidase, releasing PAR of different length as well as ADP-ribose monomers (PubMed:23102699). Required for retinoid acid-dependent gene transactivation, probably by dePARsylating histone demethylase KDM4D, allowing chromatin derepression at RAR-dependent gene promoters (PubMed:23102699). Involved in the synthesis of ATP in the nucleus, together with PARP1, NMNAT1 and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257).',NULL,NULL,NULL,NULL,NULL),(8782,'UniProt Function',NULL,10574,NULL,'ADP-ribosyltransferase which, in association with E3 ligase DTX3L, plays a role in DNA damage repair and in immune responses including interferon-mediated antiviral defenses (PubMed:16809771, PubMed:23230272, PubMed:26479788, PubMed:27796300). Within the complex, enhances DTX3L E3 ligase activity which is further enhanced by PARP9 binding to poly(ADP-ribose) (PubMed:28525742). In association with DTX3L and in presence of E1 and E2 enzymes, mediates NAD(+)-dependent mono-ADP-ribosylation of ubiquitin which prevents ubiquitin conjugation to substrates such as histones (PubMed:28525742). During DNA repair, PARP1 recruits PARP9/BAL1-DTX3L complex to DNA damage sites via PARP9 binding to ribosylated PARP1 (PubMed:23230272). Subsequent PARP1-dependent PARP9/BAL1-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites (PubMed:23230272, PubMed:28525742). In response to DNA damage, PARP9-DTX3L complex is required for efficient non-homologous end joining (NHEJ); the complex function is negatively modulated by PARP9 activity (PubMed:28525742). Dispensable for B-cell receptor (BCR) assembly through V(D)J recombination and class switch recombination (CSR) (By similarity). In macrophages, positively regulates pro-inflammatory cytokines production in response to IFNG stimulation by suppressing PARP14-mediated STAT1 ADP-ribosylation and thus promoting STAT1 phosphorylation (PubMed:27796300). Also suppresses PARP14-mediated STAT6 ADP-ribosylation (PubMed:27796300).',NULL,NULL,NULL,NULL,NULL),(8783,'UniProt Function',NULL,10576,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8784,'UniProt Function',NULL,10577,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8785,'UniProt Function',NULL,10578,NULL,'Possesses both acyltransferase and acetyltransferase activities (PubMed:16864775, PubMed:21498505). Activity is calcium-independent (By similarity). Mediates the conversion of 1-acyl-sn-glycero-3-phosphocholine (LPC) into phosphatidylcholine (PC) (PubMed:21498505). Displays a clear preference for saturated fatty acyl-CoAs, and 1-myristoyl or 1-palmitoyl LPC as acyl donors and acceptors, respectively (PubMed:16704971). May synthesize phosphatidylcholine in pulmonary surfactant, thereby playing a pivotal role in respiratory physiology (PubMed:16864775). Involved in the regulation of lipid droplet number and size (PubMed:25491198).',NULL,NULL,NULL,NULL,NULL),(8786,'UniProt Function',NULL,10579,NULL,'Potential calcium-dependent cell-adhesion protein.',NULL,NULL,NULL,NULL,NULL),(8787,'UniProt Function',NULL,10580,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). Plays a redundant role with PCGF5 as part of a PRC1-like complex that mediates monoubiquitination of histone H2A \'Lys-119\' on the X chromosome and is required for normal silencing of one copy of the X chromosome in XX females (By similarity).',NULL,NULL,NULL,NULL,NULL),(8788,'UniProt Function',NULL,10581,NULL,'Transcriptional activator that binds the sequence 5\'-ATCAATCAA-3\'. Activates transcription of PF4 in complex with MEIS1.',NULL,NULL,NULL,NULL,NULL),(8789,'UniProt Function',NULL,10582,NULL,'Potential calcium-dependent cell-adhesion protein.',NULL,NULL,NULL,NULL,NULL),(8790,'UniProt Function',NULL,10583,NULL,'Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.',NULL,NULL,NULL,NULL,NULL),(8791,'UniProt Function',NULL,10584,NULL,'May be involved in cell cycle regulation.',NULL,NULL,NULL,NULL,NULL),(8792,'UniProt Function',NULL,10586,NULL,'Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots \'circa\' (about) and \'diem\' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for \'timegivers\'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5\'-CACGTG-3\') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. Regulates circadian target genes expression at post-transcriptional levels, but may not be required for the repression at transcriptional level. Controls PER2 protein decay. Represses CRY2 preventing its repression on CLOCK/ARNTL target genes such as FXYD5 and SCNN1A in kidney and PPARA in liver. Besides its involvement in the maintenance of the circadian clock, has an important function in the regulation of several processes. Participates in the repression of glucocorticoid receptor NR3C1/GR-induced transcriptional activity by reducing the association of NR3C1/GR to glucocorticoid response elements (GREs) by ARNTL:CLOCK. Plays a role in the modulation of the neuroinflammatory state via the regulation of inflammatory mediators release, such as CCL2 and IL6. In spinal astrocytes, negatively regulates the MAPK14/p38 and MAPK8/JNK MAPK cascades as well as the subsequent activation of NFkappaB. Coordinately regulates the expression of multiple genes that are involved in the regulation of renal sodium reabsorption. Can act as gene expression activator in a gene and tissue specific manner, in kidney enhances WNK1 and SLC12A3 expression in collaboration with CLOCK. Modulates hair follicle cycling. Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1.',NULL,NULL,NULL,NULL,NULL),(8793,'UniProt Function',NULL,10587,NULL,'Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins.',NULL,NULL,NULL,NULL,NULL),(8794,'UniProt Function',NULL,10588,NULL,'May be a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1.',NULL,NULL,NULL,NULL,NULL),(8795,'UniProt Function',NULL,10589,NULL,'Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. Also seems to play a role in regulating the sensitization of neuroblastoma cells for interferon-gamma-induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(8796,'UniProt Function',NULL,10590,NULL,'Involved in salvaging queuosine.',NULL,NULL,NULL,NULL,NULL),(8797,'UniProt Function',NULL,10591,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(8798,'UniProt Function',NULL,10592,NULL,'May repress E2F-dependent transcription. May promote AR-dependent transcription.',NULL,NULL,NULL,NULL,NULL),(8799,'UniProt Function',NULL,10593,NULL,'Negatively regulates stress-induced JNK activation and apoptosis by promoting MAP2K7 phosphorylation and inhibiting its ability to activate JNK. Following prolonged stress, anti-apoptotic effect stops because of degradation of RASSF7 protein via the ubiquitin-proteasome pathway. Required for the activation of AURKB and chromosomal congression during mitosis where it stimulates microtubule polymerization.',NULL,NULL,NULL,NULL,NULL),(8800,'UniProt Function',NULL,10594,NULL,'Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the type B histone acetyltransferase (HAT) complex, which is required for chromatin assembly following DNA replication; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional repression by histone deacetylation and nucleosome remodeling; and the PRC2/EED-EZH2 complex, which promotes repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex.',NULL,NULL,NULL,NULL,NULL),(8801,'UniProt Function',NULL,10596,NULL,'Small GTPases Rab involved in autophagy (PubMed:27103069). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:27103069). May regulate the homeostasis of SNCA/alpha-synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR compostion at the post-synapses and thus synaptic transmission (By similarity).',NULL,NULL,NULL,NULL,NULL),(8802,'UniProt Function',NULL,10597,NULL,'Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.',NULL,NULL,NULL,NULL,NULL),(8803,'UniProt Function',NULL,10598,NULL,'Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color.',NULL,NULL,NULL,NULL,NULL),(8804,'UniProt Function',NULL,10599,NULL,'E3 ubiquitin-protein ligase that catalyzes the transfer of ubiquitin onto target proteins (PubMed:28978524, PubMed:29144457). Catalyzes polyubiquitination of SNRNP200/BRR2 with non-canonical \'Lys-63\'-linked polyubiquitin chains (PubMed:29144457). Plays a role in DNA repair via its role in the synthesis of \'Lys-63\'-linked polyubiquitin chains that recruit ALKBH3 and the ASCC complex to sites of DNA damage by alkylating agents (PubMed:29144457). Ubiquitinates CXCR4, leading to its degradation, and thereby contributes to the termination of CXCR4 signaling (PubMed:28978524).',NULL,NULL,NULL,NULL,NULL),(8805,'UniProt Function',NULL,10600,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor. Involved in autophagy (By similarity).',NULL,NULL,NULL,NULL,NULL),(8806,'UniProt Function',NULL,10601,NULL,'Guanine nucleotide exchange factor (GEF) which may activate RAB3A, a GTPase that regulates synaptic vesicle exocytosis. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May also activate RAB8A and RAB8B.',NULL,NULL,NULL,NULL,NULL),(8807,'UniProt Function',NULL,10602,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes.',NULL,NULL,NULL,NULL,NULL),(8808,'UniProt Function',NULL,10603,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates the ubiquitination and degradation of the DNA damage kinase PRKDC.',NULL,NULL,NULL,NULL,NULL),(8809,'UniProt Function',NULL,10604,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Required for the integrity and for normal function of the Golgi apparatus and the trans-Golgi network. Plays a role in insulin-stimulated translocation of GLUT4 to the cell membrane. Plays a role in M6PR transport from the trans-Golgi network to endosomes. Plays a role in the internalization of EGFR from the cell membrane into endosomes. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis.',NULL,NULL,NULL,NULL,NULL),(8810,'UniProt Function',NULL,10605,NULL,'Protein transport. Involved in the redistribution of lysosomes to the peri-Golgi region (By similarity). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays a role in the fusion of phagosomes with lysosomes (PubMed:21255211). Acts also as a positive regulator of hedgehog signaling and regulates ciliary function (By similarity).',NULL,NULL,NULL,NULL,NULL),(8811,'UniProt Function',NULL,10606,NULL,'Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction. Participates in the recovery phase of visual transduction via its interaction with RGS9-1 isoform. Acts as a membrane-anchor that mediates the targeting of RGS9-1 to the photoreceptor outer segment, where phototransduction takes place. Enhances the ability of RGS9-1 to stimulate G protein GTPase activity, allowing the visual signal to be terminated on the physiologically time scale. It also controls the proteolytic stability of RGS9-1, probably by protecting it from degradation (By similarity).',NULL,NULL,NULL,NULL,NULL),(8812,'UniProt Function',NULL,10607,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in polarized vesicular trafficking and neurotransmitter release. Together with RAB11A, RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (PubMed:20890297). Together with MYO5B and RAB11A participates in epithelial cell polarization (PubMed:21282656). Plays an important role in ciliogenesis (PubMed:21844891). Together with MICALL2, may also regulate adherens junction assembly (By similarity). May play a role in insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore play a role in glucose homeostasis (By similarity). Involved in autophagy (PubMed:27103069).',NULL,NULL,NULL,NULL,NULL),(8813,'UniProt Function',NULL,10608,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may be involved in polarized vesicular trafficking and neurotransmitter release. May participate in cell junction dynamics in Sertoli cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(8814,'UniProt Function',NULL,10609,NULL,'May be involved in the regulation of centrosome duplication and cell cycle progression.',NULL,NULL,NULL,NULL,NULL),(8815,'UniProt Function',NULL,10610,NULL,'Protein transport. Probably involved in regulated exocytosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(8816,'UniProt Function',NULL,10611,NULL,'Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3\'-5\' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (PubMed:11741547, PubMed:9590181, PubMed:9705271, PubMed:9651580). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888).',NULL,NULL,NULL,NULL,NULL),(8817,'UniProt Function',NULL,10612,NULL,'Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4) with high affinity. Might be a specific IP4 receptor.',NULL,NULL,NULL,NULL,NULL),(8818,'UniProt Function',NULL,10613,NULL,'Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the tumor-like growth properties of embryonic stem cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(8819,'UniProt Function',NULL,10614,NULL,'May serve as an important signal transducer for a novel upstream stimuli in controlling cell proliferation. Weakly activates the MAP kinase pathway.',NULL,NULL,NULL,NULL,NULL),(8820,'UniProt Function',NULL,10615,NULL,'Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. In its active form interacts with and regulates several effectors including MAP4K4, MINK1 and TNIK. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it is part of several signaling cascades and may regulate cytoskeletal rearrangements, cell migration, cell adhesion and cell spreading.',NULL,NULL,NULL,NULL,NULL),(8821,'UniProt Function',NULL,10617,NULL,'Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 \'Lys-20\' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation, associates preferentially with E2F5. Binds to cyclins A and E. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(8822,'UniProt Function',NULL,10618,NULL,'Isoform 1 may function as a nuclear receptor coactivator, enhancing transcription through other coactivators such as NCOA6 and CITED1. Isoform 2, functions as a transcriptional repressor, modulating transcriptional activities of coactivators including isoform 1, NCOA6 and CITED1 (PubMed:11443112). Regulates centriole biogenesis by suppressing the formation of aberrant centriolar protein complexes in the cytoplasm and thus preserving mitotic spindle integrity. Prevents the formation of the STIL-CENPJ complex (which can induce the formation of aberrant centriolar protein complexes) by interfering with the interaction of STIL with CENPJ (PubMed:25385835). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728).',NULL,NULL,NULL,NULL,NULL),(8823,'UniProt Function',NULL,10619,NULL,'Required for the translational activation of PER1 mRNA in response to circadian clock. Binds directly to the 3\'-UTR of the PER1 mRNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(8824,'UniProt Function',NULL,10620,NULL,'Receptor for the orexigenic neuropeptide QRFP. The activity of this receptor is mediated by G proteins that modulate adenylate cyclase activity and intracellular calcium levels.',NULL,NULL,NULL,NULL,NULL),(8825,'UniProt Function',NULL,10621,NULL,'Does not have alcohol dehydrogenase activity. Binds NADP and acts through a one-electron transfer process. Orthoquinones, such as 1,2-naphthoquinone or 9,10-phenanthrenequinone, are the best substrates (in vitro). May act in the detoxification of xenobiotics. Interacts with (AU)-rich elements (ARE) in the 3\'-UTR of target mRNA species. Enhances the stability of mRNA coding for BCL2. NADPH binding interferes with mRNA binding.',NULL,NULL,NULL,NULL,NULL),(8826,'UniProt Function',NULL,10622,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in endocytic recycling and regulates the transport to the plasma membrane of transmembrane proteins like the tight junction protein OCLN/occludin. Thereby, it regulates the assembly and the activity of tight junctions. Moreover, it may also regulate tight junction assembly by activating the PKA signaling pathway and by reorganizing the actin cytoskeleton through the activation of the downstream effectors PRKACA and MICALL2 respectively. Through its role in tight junction assembly, may play a role in the establishment of Sertoli cell barrier. Plays also a role in angiogenesis through regulation of endothelial cells chemotaxis. Also involved in neurite outgrowth. Has also been proposed to play a role in post-Golgi membrane trafficking from the TGN to the recycling endosome. Finally, it has been involved in insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore may play a role in glucose homeostasis.',NULL,NULL,NULL,NULL,NULL),(8827,'UniProt Function',NULL,10623,NULL,'Receptor for RNL3/relaxin-3. Binding of the ligand inhibit cAMP accumulation.',NULL,NULL,NULL,NULL,NULL),(8828,'UniProt Function',NULL,10625,NULL,'Required for protein transport from the endoplasmic reticulum to the Golgi complex.',NULL,NULL,NULL,NULL,NULL),(8829,'UniProt Function',NULL,10627,NULL,'Required for protein transport from the endoplasmic reticulum to the Golgi complex.',NULL,NULL,NULL,NULL,NULL),(8830,'UniProt Function',NULL,10628,NULL,'Protein transport. Probably involved in vesicular traffic (By similarity).',NULL,NULL,NULL,NULL,NULL),(8831,'UniProt Function',NULL,10629,NULL,'Seems to have a role in retrograde membrane traffic at the level of the Golgi complex. May function in retrograde transport in neuronal cells.',NULL,NULL,NULL,NULL,NULL),(8832,'UniProt Function',NULL,10630,NULL,'Protein transport. Probably involved in vesicular traffic (By similarity).',NULL,NULL,NULL,NULL,NULL),(8833,'UniProt Function',NULL,10631,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). That Rab is mainly involved in the biosynthetic transport of proteins from the Golgi to the plasma membrane. Regulates, for instance, SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane. In parallel, it regulates the transport of TLR4, a toll-like receptor to the plasma membrane and therefore may be important for innate immune response. Plays also a specific role in asymmetric protein transport to the plasma membrane within the polarized neuron and epithelial cells. In neurons, it is involved in axonogenesis through regulation of vesicular membrane trafficking toward the axonal plasma membrane while in epithelial cells, it regulates transport from the Golgi to the basolateral membrane. Moreover, may play a role in the basolateral recycling pathway and in phagosome maturation. According to PubMed:23263280, may play a role in endoplasmic reticulum dynamics and morphology controlling tubulation along microtubules and tubules fusion.',NULL,NULL,NULL,NULL,NULL),(8834,'UniProt Function',NULL,10632,NULL,'Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(8835,'UniProt Function',NULL,10633,NULL,'Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1.',NULL,NULL,NULL,NULL,NULL),(8836,'UniProt Function',NULL,10634,NULL,'Mediator of localized membrane signals. Implicated in the regulation of lamellipodial dynamics. Negatively regulates cell adhesion.',NULL,NULL,NULL,NULL,NULL),(8837,'UniProt Function',NULL,10635,NULL,'Plays a role in RAN-dependent nucleocytoplasmic transport. Alleviates the TNPO1-dependent inhibition of RAN GTPase activity and mediates the dissociation of RAN from proteins involved in transport into the nucleus (By similarity). Induces a conformation change in the complex formed by XPO1 and RAN that triggers the release of the nuclear export signal of cargo proteins (PubMed:20485264). Promotes the disassembly of the complex formed by RAN and importin beta. Promotes dissociation of RAN from a complex with KPNA2 and CSE1L (By similarity). Required for normal mitotic spindle assembly and normal progress through mitosis via its effect on RAN (PubMed:17671426). Does not increase the RAN GTPase activity by itself, but increases GTP hydrolysis mediated by RANGAP1 (PubMed:7882974). Inhibits RCC1-dependent exchange of RAN-bound GDP by GTP (PubMed:7882974, PubMed:7616957).',NULL,NULL,NULL,NULL,NULL),(8838,'UniProt Function',NULL,10637,NULL,'Involved in autophagy (PubMed:21775823). Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1 (PubMed:23392225). Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) during S.typhimurium infection and subsequent xenophagy (By similarity). Involved in repair of DNA damage caused by ionizing radiation, which subsequently improves cell survival by decreasing apoptosis (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinase activity, affecting their downstream signaling pathways (PubMed:10769033, PubMed:12221124). Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111 (By similarity). Functions as a DNA-binding transcription factor (PubMed:12095676). Is a potent regulator of the RB1 pathway through induction of RB1 expression (PubMed:14533007). Plays a crucial role in muscular differentiation (PubMed:12163359). Plays an indispensable role in fetal hematopoiesis and in the regulation of neuronal homeostasis (By similarity).',NULL,NULL,NULL,NULL,NULL),(8839,'UniProt Function',NULL,10638,NULL,'Plays an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. Binds, in a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia development and function and delivers them into the growing sperm tail.',NULL,NULL,NULL,NULL,NULL),(8840,'UniProt Function',NULL,10640,NULL,'May bind RNA.',NULL,NULL,NULL,NULL,NULL),(8841,'UniProt Function',NULL,10641,NULL,'Binds (via the RRM domain) to the 3\'-untranslated region (UTR) of CDKN1A mRNA.',NULL,NULL,NULL,NULL,NULL),(8842,'UniProt Function',NULL,10642,NULL,'Component of the spliceosome A complex. Regulates alternative splicing of a number of mRNAs. May modulate splice site pairing after recruitment of the U1 and U2 snRNPs to the 5\' and 3\' splice sites of the intron. May both positively and negatively regulate apoptosis by regulating the alternative splicing of several genes involved in this process, including FAS and CASP2/caspase-2. In the case of FAS, promotes exclusion of exon 6 thereby producing a soluble form of FAS that inhibits apoptosis. In the case of CASP2/caspase-2, promotes exclusion of exon 9 thereby producing a catalytically active form of CASP2/Caspase-2 that induces apoptosis.',NULL,NULL,NULL,NULL,NULL),(8843,'UniProt Function',NULL,10643,NULL,'RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes involved in cardiac development. Regulates splicing of TTN (Titin).',NULL,NULL,NULL,NULL,NULL),(8844,'UniProt Function',NULL,10644,NULL,'RNA-binding protein with binding specificity for poly(C). May play an important role in neural development.',NULL,NULL,NULL,NULL,NULL),(8845,'UniProt Function',NULL,10645,NULL,'Essential component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it serves as a molecular beacon for the recruitment of molecular machinery, including MeCP2 and SUV39H1, that imposes silencing across a chromosomal interval. Plays a central role in demethylation of Lys-4 of histone H3 by promoting demethylase activity of KDM1A on core histones and nucleosomal substrates. It also protects KDM1A from the proteasome. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation.',NULL,NULL,NULL,NULL,NULL),(8846,'UniProt Function',NULL,10646,NULL,'May act as a component of a corepressor complex that represses transcription.',NULL,NULL,NULL,NULL,NULL),(8847,'UniProt Function',NULL,10648,NULL,'Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5\'-AGGTCA-3\' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function.',NULL,NULL,NULL,NULL,NULL),(8848,'UniProt Function',NULL,10649,NULL,'Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in vesicular trafficking. Plays a role in the fusion of phagosomes with lysosomes. Negatively regulates LPS-induced autophagosome formation in macrophages possibly by implicating PI3K (PubMed:24349490). May be involved in multiple neurite formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(8849,'UniProt Function',NULL,10650,NULL,'GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A, converting active RAB22A-GTP to the inactive form RAB22A-GDP (PubMed:16923123). Plays a role in endocytosis and intracellular protein transport. Recruited by ANK2 to phosphatidylinositol 3-phosphate (PI3P)-positive early endosomes, where it inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(8850,'UniProt Function',NULL,10651,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (8851,'UniProt Function',NULL,10652,NULL,'May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition.',NULL,NULL,NULL,NULL,NULL),(8852,'UniProt Function',NULL,10654,NULL,'May act as an adapter protein to couple membrane receptors to intracellular signaling pathways (Probable). Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation (PubMed:18222118). Acts as a guanine nucleotide exchange factor (GEF) for RAN GTPase. May play an essential role in hemostasis and in maintaining microtubule dynamics with respect to both platelet shape and function (By similarity).',NULL,NULL,NULL,NULL,NULL),(8853,'UniProt Function',NULL,10655,NULL,'RNA-binding protein that plays several role in the regulation of pre- and post-transcriptional processes. Implicated in tissue-specific regulation of gene transcription and alternative splicing of several pre-mRNAs. Binds to and stimulates transcription from the tumor suppressor TXNIP gene promoter; may thus be involved in tumor suppression. When associated with SAFB, binds to and stimulates transcription from the SREBF1 promoter. Associates with nascent mRNAs transcribed by RNA polymerase II. Component of the supraspliceosome complex that regulates pre-mRNA alternative splice site selection. Can either activate or suppress exon inclusion; acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN2. Represses the splicing of MAPT/Tau exon 10. Binds preferentially to single-stranded 5\'-CC[A/C]-rich RNA sequence motifs localized in a single-stranded conformation; probably binds RNA as a homodimer. Binds non-specifically to pre-mRNAs. Plays also a role in the cytoplasmic TNFR1 trafficking pathways; promotes both the IL-1-beta-mediated inducible proteolytic cleavage of TNFR1 ectodomains and the release of TNFR1 exosome-like vesicles to the extracellular compartment.',NULL,NULL,NULL,NULL,NULL),(8854,'UniProt Function',NULL,10656,NULL,'Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3) (PubMed:11062261, PubMed:11788822, PubMed:15020713). Plays a role in the recycling of transferrin receptor to the plasma membrane (PubMed:22308388).',NULL,NULL,NULL,NULL,NULL),(8855,'UniProt Function',NULL,10657,NULL,'RNA and ssDNA-binding protein that may play specific roles during transcription initiation at distinct promoters. Can enter the preinitiation complex together with the RNA polymerase II (Pol II).',NULL,NULL,NULL,NULL,NULL),(8856,'UniProt Function',NULL,10658,NULL,'Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium. The resulting D-ribose-5-phosphate can then be used either for sythesis of nucleotides, histidine, and tryptophan, or as a component of the pentose phosphate pathway.',NULL,NULL,NULL,NULL,NULL),(8857,'UniProt Function',NULL,10659,NULL,'May be involved in gene regulation within neural lineage cells potentially by direct DNA binding or by binding to other transcription factors.',NULL,NULL,NULL,NULL,NULL),(8858,'UniProt Function',NULL,10660,NULL,'Acts with TAL1/SCL to regulate red blood cell development. Also acts with LDB1 to maintain erythroid precursors in an immature state.',NULL,NULL,NULL,NULL,NULL),(8859,'UniProt Function',NULL,10661,NULL,'Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development.',NULL,NULL,NULL,NULL,NULL),(8860,'UniProt Function',NULL,10662,NULL,'E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase (CRLs) complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision repair (PubMed:10230407, PubMed:10579999, PubMed:15983046, PubMed:16678110, PubMed:19112177, PubMed:19679664, PubMed:23455478, PubMed:27565346, PubMed:29769719, PubMed:11961546, PubMed:22748924). CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets (PubMed:27565346). The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate recognition components. As a component of the CSA complex promotes the ubiquitination of ERCC6 resulting in proteasomal degradation. Recruits the E2 ubiquitin-conjugating enzyme CDC34 to the complex and brings it into close proximity to the substrate. Probably also stimulates CDC34 autoubiquitination. May be required for histone H3 and histone H4 ubiquitination in response to ultraviolet and for subsequent DNA repair. Promotes the neddylation of CUL1, CUL2, CUL4 and CUL4 via its interaction with UBE2M. Involved in the ubiquitination of KEAP1, ENC1 and KLHL41. In concert with ATF2 and CUL3, promotes degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM.',NULL,NULL,NULL,NULL,NULL),(8861,'UniProt Function',NULL,10663,NULL,'RNA-binding protein involved in pre-mRNA splicing. Required for sperm development. Acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN. Binds non-specifically to mRNAs.',NULL,NULL,NULL,NULL,NULL),(8862,'UniProt Function',NULL,10664,NULL,'RNA-binding protein involved in pre-mRNA splicing. Required for sperm development. Acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN. Binds non-specifically to mRNAs.',NULL,NULL,NULL,NULL,NULL),(8863,'UniProt Function',NULL,10665,NULL,'Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP, and thereby plays an important role in RAN-mediated functions in nuclear import and mitosis (PubMed:1944575, PubMed:17435751, PubMed:20668449, PubMed:22215983, PubMed:11336674). Contributes to the generation of high levels of chromosome-associated, GTP-bound RAN, which is important for mitotic spindle assembly and normal progress through mitosis (PubMed:12194828, PubMed:17435751, PubMed:22215983). Via its role in maintaining high levels of GTP-bound RAN in the nucleus, contributes to the release of cargo proteins from importins after nuclear import (PubMed:22215983). Involved in the regulation of onset of chromosome condensation in the S phase (PubMed:3678831). Binds both to the nucleosomes and double-stranded DNA (PubMed:17435751, PubMed:18762580).',NULL,NULL,NULL,NULL,NULL),(8864,'UniProt Function',NULL,10666,NULL,'Multifunctional protein that may effect its functions by regulating the activity of small GTPases, such as RAC1 and RALA (PubMed:12919680, PubMed:25074804, PubMed:26158537, PubMed:28869598). Required for normal progress through the cell cycle, both during interphase and during mitosis (PubMed:23388455, PubMed:12919680, PubMed:26158537). Required for the presence of normal levels of MAD2L1, AURKB and BIRC5 on inner centromeres during mitosis, and for normal attachment of kinetochores to mitotic spindles (PubMed:12919680, PubMed:26158537). Required for normal organization of the microtubule cytoskeleton in interphase cells (PubMed:23388455). Functions as guanine nucleotide exchange factor (GEF) for RALA (PubMed:26158537). Interferes with the activation of RAC1 by guanine nucleotide exchange factors (PubMed:25074804). Prevents accumulation of active, GTP-bound RAC1, and suppresses RAC1-mediated reorganization of the actin cytoskeleton and formation of membrane protrusions (PubMed:25074804, PubMed:28869598). Required for normal cellular responses to contacts with the extracellular matrix of adjacent cells, and for directional cell migration in response to a fibronectin gradient (in vitro) (PubMed:25074804, PubMed:28869598).',NULL,NULL,NULL,NULL,NULL),(8865,'UniProt Function',NULL,10667,NULL,'Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs.',NULL,NULL,NULL,NULL,NULL),(8866,'UniProt Function',NULL,10668,NULL,'May play a role in tumor angiogenesis.',NULL,NULL,NULL,NULL,NULL),(8867,'UniProt Function',NULL,10669,NULL,'Is able to inhibit all four classes of proteinases by a unique \'trapping\' mechanism. This protein has a peptide stretch, called the \'bait region\' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase.',NULL,NULL,NULL,NULL,NULL),(8868,'UniProt Function',NULL,10670,NULL,'Non-catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine).',NULL,NULL,NULL,NULL,NULL),(8869,'UniProt Function',NULL,10672,NULL,'E3 ubiquitin-protein ligase. Plays an important role in regulating the surface level of MUSK on myotubes. Mediates the ubiquitination of MUSK, promoting its endocytosis and lysosomal degradation. Might contribute to terminal myogenic differentiation.',NULL,NULL,NULL,NULL,NULL),(8870,'UniProt Function',NULL,10674,NULL,'RNA-binding protein that plays a central role in myelinization (PubMed:16641098). Binds to the 5\'-NACUAAY-N(1,20)-UAAY-3\' RNA core sequence. Regulates target mRNA stability (PubMed:23630077). In addition, acts by regulating pre-mRNA splicing, mRNA export and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia (PubMed:16641098). Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity).',NULL,NULL,NULL,NULL,NULL),(8871,'UniProt Function',NULL,10675,NULL,'Responsible for the biosynthesis of pyroglutamyl peptides.',NULL,NULL,NULL,NULL,NULL),(8872,'UniProt Function',NULL,10677,NULL,'High affinity receptor for INSL5. Also acts as receptor for RLN3/relaxin-3, as well as bradykinin and kallidin. Binding of the ligand inhibit cAMP accumulation.',NULL,NULL,NULL,NULL,NULL),(8873,'UniProt Function',NULL,10678,NULL,'Involved in the regulation of cell survival. Promotes invasive migration of cells in which it functions to localize and maintain integrin alpha-V/beta-1 at the tips of extending pseudopodia (PubMed:17925226). Involved in the regulation of epithelial morphogenesis through the control of CLDN4 expression and localization at tight junctions (By similarity). May selectively regulate the apical recycling pathway. Together with MYO5B regulates transcytosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(8874,'UniProt Function',NULL,10679,NULL,'Protein transport. Probably involved in vesicular traffic (By similarity).',NULL,NULL,NULL,NULL,NULL),(8875,'UniProt Function',NULL,10681,NULL,'Regulator of G protein-coupled receptor (GPCR) signaling. Regulatory subunit of the R7-Gbeta5 complexes that acts by controlling the subcellular location of the R7-Gbeta5 complexes. When palmitoylated, it targets the R7-Gbeta5 complexes to the plasma membrane, leading to inhibit G protein alpha subunits. When it is unpalmitoylated, the R7-Gbeta5 complexes undergo a nuclear/cytoplasmic shuttling. May also act by controlling the proteolytic stability of R7 proteins, probably by protecting them from degradation.',NULL,NULL,NULL,NULL,NULL),(8876,'UniProt Function',NULL,10682,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). Required for maintaining the structural integrity of the Golgi apparatus, possibly by mediating interactions with cytoplasmic scaffolding proteins.',NULL,NULL,NULL,NULL,NULL),(8877,'UniProt Function',NULL,10683,NULL,'Protein transport. Probably involved in vesicular traffic (By similarity).',NULL,NULL,NULL,NULL,NULL),(8878,'UniProt Function',NULL,10684,NULL,'Involved in DNA repair and mitotic recombination. May play an active role in recombination processes in concert with other members of the RAD52 epistasis group.',NULL,NULL,NULL,NULL,NULL),(8879,'UniProt Function',NULL,10685,NULL,'Guanine nucleotide exchange factor (GEF) which may activate RAB8A and RAB8B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Mediates the release of GDP from RAB8A and RAB8B but not from RAB3A or RAB5. Modulates actin organization and promotes polarized transport of RAB8A-specific vesicles to the cell surface. Together with RAB11A, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis.',NULL,NULL,NULL,NULL,NULL),(8880,'UniProt Function',NULL,10686,NULL,'Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient-transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. Plays important roles in microbial pathogen infection and survival, as well as in participating in the life cycle of viruses. Microbial pathogens possess survival strategies governed by RAB7A, sometimes by employing RAB7A function (e.g. Salmonella) and sometimes by excluding RAB7A function (e.g. Mycobacterium). In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA (PubMed:11179213, PubMed:12944476, PubMed:14617358, PubMed:20028791, PubMed:21255211). Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved in the ADRB2-stimulated lipolysis through lipophagy, a cytosolic lipase-independent autophagic pathway (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(8881,'UniProt Function',NULL,10687,NULL,'Required for normal Golgi ribbon organization and ER-to-Golgi trafficking.',NULL,NULL,NULL,NULL,NULL),(8882,'UniProt Function',NULL,10689,NULL,'Controls vesicular trafficking from endosomes to the trans-Golgi network (TGN). Acts as a negative regulator of TLR9 signaling and can suppress TLR9-triggered TNFA, IL6, and IFNB production in macrophages by promoting TLR9 lysosomal degradation. Also negatively regulates TLR4 signaling in macrophages by promoting lysosomal degradation of TLR4. Promotes megakaryocytic differentiation by increasing NF-kappa-B-dependent IL6 production and subsequently enhancing the association of STAT3 with GATA1. Not involved in the regulation of the EGF- and EGFR degradation pathway.',NULL,NULL,NULL,NULL,NULL),(8883,'UniProt Function',NULL,10690,NULL,'Plays a role in mitotic bipolar spindle formation (PubMed:17172455). Binds mRNA. May function in nucleocytoplasmic transport and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(8884,'UniProt Function',NULL,10691,NULL,'Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation.',NULL,NULL,NULL,NULL,NULL),(8885,'UniProt Function',NULL,10692,NULL,'Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Less effective than CHM in supporting prenylation of Rab3 family.',NULL,NULL,NULL,NULL,NULL),(8886,'UniProt Function',NULL,10693,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab plays a role in endocytic recycling, regulating apical recycling of several transmembrane proteins including cystic fibrosis transmembrane conductance regulator/CFTR, epithelial sodium channel/ENaC, potassium voltage-gated channel, and voltage-dependent L-type calcium channel. May also regulate constitutive and regulated secretion, like insulin granule exocytosis. Required for melanosome transport and release from melanocytes. Also regulates V-ATPase intracellular transport in response to extracellular acidosis.',NULL,NULL,NULL,NULL,NULL),(8887,'UniProt Function',NULL,10694,NULL,'Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Acts on LPA containing saturated or unsaturated fatty acids C15:0-C20:4 at the sn-1 position using C18:1-CoA as the acyl donor. Also acts on lysophosphatidylethanolamine using oleoyl-CoA, but not arachidonoyl-CoA, and lysophosphatidylinositol using arachidonoyl-CoA, but not oleoyl-CoA. Activity toward lysophosphatidylglycerol not detectable.',NULL,NULL,NULL,NULL,NULL),(8888,'UniProt Function',NULL,10695,NULL,'Transcription factor that specifically binds to the octamer motif (5\'-ATTTGCAT-3\'). Regulates transcription in a number of tissues in addition to activating immunoglobulin gene expression. Modulates transcription transactivation by NR3C1, AR and PGR. Isoform 5 activates the U2 small nuclear RNA (snRNA) promoter.',NULL,NULL,NULL,NULL,NULL),(8889,'UniProt Function',NULL,10696,NULL,'Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution (By similarity).',NULL,NULL,NULL,NULL,NULL),(8890,'UniProt Function',NULL,10697,NULL,'Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(8891,'UniProt Function',NULL,10698,NULL,'Plays an important role in centriole assembly and/or stability and ciliogenesis (PubMed:20008567). Involved in early steps of centriole duplication, as well as in the later steps of centriole length control (PubMed:19109428). Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation. Required for primary cilia formation, ciliary length and also cell proliferation (PubMed:23015594). Required for retinal integrity (PubMed:25044745).',NULL,NULL,NULL,NULL,NULL),(8892,'UniProt Function',NULL,10699,NULL,'Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in a variety of cell types.',NULL,NULL,NULL,NULL,NULL),(8893,'UniProt Function',NULL,10700,NULL,'Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity.',NULL,NULL,NULL,NULL,NULL),(8894,'UniProt Function',NULL,10701,NULL,'Enzyme with a broad specificity. Dephosphorylates CDK2 and CDK6 in vitro. Dephosphorylates PRKAA1 and PRKAA2. Inhibits TBK1-mediated antiviral signaling by dephosphorylating it at \'Ser-172\'. Plays an important role in the termination of TNF-alpha-mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB.',NULL,NULL,NULL,NULL,NULL),(8895,'UniProt Function',NULL,10705,NULL,'Catalytically inactive protein kinase that acts as a scaffold protein. Functions as an effector of the small GTPase RND2, which stimulates RhoA activity and inhibits NGF-induced neurite outgrowth (By similarity). Promotes Src family kinase (SFK) signaling by regulating the subcellular localization of CSK, a negative regulator of these kinases, leading to the regulation of cell morphology and motility by a CSK-dependent mechanism (By similarity). Acts as a critical coactivator of Notch signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(8896,'UniProt Function',NULL,10706,NULL,'S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates \'Lys-9\' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene.',NULL,NULL,NULL,NULL,NULL),(8897,'UniProt Function',NULL,10708,NULL,'Functions as a RAC1 guanine nucleotide exchange factor (GEF), activating Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. Mediates the activation of RAC1 in a PI3K-dependent manner. May be an important mediator of Rac signaling, acting directly downstream of both G protein-coupled receptors and phosphoinositide 3-kinase.',NULL,NULL,NULL,NULL,NULL),(8898,'UniProt Function',NULL,10709,NULL,'Functions as a transcriptional repressor, inhibiting the signaling of retinoic acid through the retinoic acid receptors RARA, RARB and RARG. Prevents retinoic acid-induced cell proliferation arrest, differentiation and apoptosis.',NULL,NULL,NULL,NULL,NULL),(8899,'UniProt Function',NULL,10711,NULL,'Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2).',NULL,NULL,NULL,NULL,NULL),(8900,'UniProt Function',NULL,10712,NULL,'Cytotoxin and helminthotoxin. Also induces non-cytolytic histamine release from human basophils. Involved in antiparasitic defense mechanisms and immune hypersensitivity reactions. The proform acts as a proteinase inhibitor, reducing the activity of PAPPA.',NULL,NULL,NULL,NULL,NULL),(8901,'UniProt Function',NULL,10713,NULL,'Transcriptional coactivator for steroid receptors and nuclear receptors. Greatly increases the transcriptional activity of PPARG and thyroid hormone receptor on the uncoupling protein promoter. Can regulate key mitochondrial genes that contribute to the program of adaptive thermogenesis. Plays an essential role in metabolic reprogramming in response to dietary availability through coordination of the expression of a wide array of genes involved in glucose and fatty acid metabolism. Induces the expression of PERM1 in the skeletal muscle in an ESRRA-dependent manner. Also involved in the integration of the circadian rhythms and energy metabolism. Required for oscillatory expression of clock genes, such as ARNTL/BMAL1 and NR1D1, through the coactivation of RORA and RORC, and metabolic genes, such as PDK4 and PEPCK.',NULL,NULL,NULL,NULL,NULL),(8902,'UniProt Function',NULL,10714,NULL,'Required to anchor acetylcholinesterase (ACHE) to the basal lamina of the neuromuscular junction and to the membrane of neuronal synapses in brain. Also able to organize ACHE into tetramers (By similarity).',NULL,NULL,NULL,NULL,NULL),(8903,'UniProt Function',NULL,10715,NULL,'This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain.',NULL,NULL,NULL,NULL,NULL),(8904,'UniProt Function',NULL,10715,NULL,'This protein may be closely linked to the iron-sulfur protein in the complex and function as an iron-sulfur protein binding factor.',NULL,NULL,NULL,NULL,NULL),(8905,'UniProt Function',NULL,10717,NULL,'Acts as an A-kinase anchoring protein by binding to the type II regulatory subunit of protein kinase A and anchoring it to the mitochondrion. Also involved in synchronization of mitochondrial fission (PubMed:12186851). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays an important role in the control of melanin production and melanosome biogenesis (PubMed:23084991). In concert with RAB38, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(8906,'UniProt Function',NULL,10718,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in transcytosis, the directed movement of endocytosed material through the cell and its exocytosis from the plasma membrane at the opposite side. Mainly observed in epithelial cells, transcytosis mediates for instance, the transcellular transport of immunoglobulins from the basolateral surface to the apical surface. Most probably controls membrane trafficking through apical recycling endosomes in a post-endocytic step of transcytosis. Required for melanosome transport and release from melanocytes, it also regulates dendrite and dendritic spine development (By similarity). May also play a role in cell migration.',NULL,NULL,NULL,NULL,NULL),(8907,'UniProt Function',NULL,10720,NULL,'Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Bind to single-stranded DNA (ssDNA) and has DNA-dependent ATPase activity. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. Involved in telomere maintenance. The BCDX2 subcomplex XRCC2:RAD51D can stimulate Holliday junction resolution by BLM.',NULL,NULL,NULL,NULL,NULL),(8908,'UniProt Function',NULL,10721,NULL,'Plays a role in membrane trafficking and in homotypic early endosome fusion.',NULL,NULL,NULL,NULL,NULL),(8909,'UniProt Function',NULL,10722,NULL,'Involved in the activation of Ras protein signal transduction (PubMed:22821884). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:12740440, PubMed:14500341, PubMed:9020151).',NULL,NULL,NULL,NULL,NULL),(8910,'UniProt Function',NULL,10723,NULL,'Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5\'-AGGTCA-3\' sites known as DR1-DR5. In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone acetylation, chromatin condensation and transcriptional suppression. On ligand binding, the corepressors dissociate from the receptors and associate with the coactivators leading to transcriptional activation. RARA plays an essential role in the regulation of retinoic acid-induced germ cell development during spermatogenesis. Has a role in the survival of early spermatocytes at the beginning prophase of meiosis. In Sertoli cells, may promote the survival and development of early meiotic prophase spermatocytes. In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity).',NULL,NULL,NULL,NULL,NULL),(8911,'UniProt Function',NULL,10724,NULL,'GTPase involved in nucleocytoplasmic transport, participating both to the import and the export from the nucleus of proteins and RNAs (PubMed:10400640, PubMed:8276887, PubMed:8896452, PubMed:8636225, PubMed:8692944, PubMed:9351834, PubMed:9428644, PubMed:9822603, PubMed:26272610). Switches between a cytoplasmic GDP- and a nuclear GTP-bound state by nucleotide exchange and GTP hydrolysis (PubMed:7819259, PubMed:8896452, PubMed:8636225, PubMed:8692944, PubMed:9351834, PubMed:9428644, PubMed:9822603, PubMed:29040603, PubMed:11336674, PubMed:26272610). Nuclear import receptors such as importin beta bind their substrates only in the absence of GTP-bound RAN and release them upon direct interaction with GTP-bound RAN, while export receptors behave in the opposite way. Thereby, RAN controls cargo loading and release by transport receptors in the proper compartment and ensures the directionality of the transport (PubMed:8896452, PubMed:9351834, PubMed:9428644). Interaction with RANBP1 induces a conformation change in the complex formed by XPO1 and RAN that triggers the release of the nuclear export signal of cargo proteins (PubMed:20485264). RAN (GTP-bound form) triggers microtubule assembly at mitotic chromosomes and is required for normal mitotic spindle assembly and chromosome segregation (PubMed:10408446, PubMed:29040603). Required for normal progress through mitosis (PubMed:8421051, PubMed:12194828, PubMed:29040603). The complex with BIRC5/survivin plays a role in mitotic spindle formation by serving as a physical scaffold to help deliver the RAN effector molecule TPX2 to microtubules (PubMed:18591255). Acts as a negative regulator of the kinase activity of VRK1 and VRK2 (PubMed:18617507). Enhances AR-mediated transactivation. Transactivation decreases as the poly-Gln length within AR increases (PubMed:10400640).',NULL,NULL,NULL,NULL,NULL),(8912,'UniProt Function',NULL,10726,NULL,'Functions as a Ras GTPase-activating protein. Plays an important role in the expansion and functions of natural killer T (NKT) cells in the liver by negatively regulating RAS activity and the down-stream ERK signaling pathway.',NULL,NULL,NULL,NULL,NULL),(8913,'UniProt Function',NULL,10727,NULL,'Core histone-binding subunit that may target chromatin assembly factors, chromatin remodeling factors and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the chromatin assembly factor 1 (CAF-1) complex, which is required for chromatin assembly following DNA replication and DNA repair; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional repression by histone deacetylation and nucleosome remodeling; the PRC2/EED-EZH2 complex, which promotes repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex.',NULL,NULL,NULL,NULL,NULL),(8914,'UniProt Function',NULL,10728,NULL,'Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.',NULL,NULL,NULL,NULL,NULL),(8915,'UniProt Function',NULL,10729,NULL,'E3 ubiquitin-protein ligase which promotes ubiquitination of YBX1, leading to its degradation by the proteasome (PubMed:18851979). May play a role as a scaffold protein to promote the assembly of the p53/TP53-MDM2 complex, resulting in increase of MDM2-mediated ubiquitination and degradation of p53/TP53; may function as negative regulator of p53/TP53, leading to both apoptosis and cell growth (By similarity). Regulates DNA-replication and the stability of chromosomal common fragile sites (CFSs) in a ZBTB38- and MCM10-dependent manner. Controls ZBTB38 protein stability and abundance via ubiquitination and proteasomal degradation, and ZBTB38 in turn negatively regulates the expression of MCM10 which plays an important role in DNA-replication (PubMed:24726359).',NULL,NULL,NULL,NULL,NULL),(8916,'UniProt Function',NULL,10731,NULL,'This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This subunit interacts with cytochrome c1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(8917,'UniProt Function',NULL,10733,NULL,'Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Part of the RAD21 paralog protein complexes BCDX2 and CX3 which act at different stages of the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 seems to act downstream of BRCA2 recruitment and upstream of RAD51 recruitment; CX3 seems to act downstream of RAD51 recruitment; both complexes bind predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. Involved in RAD51 foci formation in response to DNA damage suggesting an involvement in early stages of HR probably in the invasion step. Has an early function in DNA repair in facilitating phosphorylation of the checkpoint kinase CHEK2 and thereby transduction of the damage signal, leading to cell cycle arrest and HR activation. Participates in branch migration and HJ resolution and thus is important for processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex. Part of a PALB2-scaffolded HR complex containing BRCA2 and which is thought to play a role in DNA repair by HR. Protects RAD51 from ubiquitin-mediated degradation that is enhanced following DNA damage. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and XRCC3. Contributes to DNA cross-link resistance, sister chromatid cohesion and genomic stability. Involved in maintaining centrosome number in mitosis.',NULL,NULL,NULL,NULL,NULL),(8918,'UniProt Function',NULL,10734,NULL,'Rab GTPase key regulator in vesicle trafficking. Essential for maintaining the integrity of the endosome-trans-Golgi network structure. Together with LRRK2, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner. Regulates neuronal process morphology in the intact central nervous system (CNS). May play a role in the formation of typhoid toxin transport intermediates during Salmonella enterica serovar Typhi (S.Typhi) epithelial cell infection.',NULL,NULL,NULL,NULL,NULL),(8919,'UniProt Function',NULL,10735,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Mediates transport of ADRA2A and ADRA2B from the Golgi to the cell membrane. Plays a role in the maturation of zymogenic granules and in pepsinogen secretion in the stomach. Plays a role in the secretion of amylase from acinar granules in the parotid gland.',NULL,NULL,NULL,NULL,NULL),(8920,'UniProt Function',NULL,10736,NULL,'Involved in the transport of proteins between the endosomes and the trans Golgi network. Involved in the recruitment of SGSM2 to melanosomes and is required for the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes.',NULL,NULL,NULL,NULL,NULL),(8921,'UniProt Function',NULL,10739,NULL,'Single-stranded DNA-binding protein recruited to replication forks to maintain genome stability (PubMed:28735897). Prevents fork collapse by antagonizing the accumulation of RAD51 at forks to ensure the proper balance of fork remodeling and protection without interfering with the capacity of cells to complete homologous recombination of double-strand breaks (PubMed:28735897).',NULL,NULL,NULL,NULL,NULL),(8922,'UniProt Function',NULL,10740,NULL,'Downstream effector of Rap required for cell adhesion and migration of neural crest precursors during development.',NULL,NULL,NULL,NULL,NULL),(8923,'UniProt Function',NULL,10742,NULL,'Binds predominantly GDP, and also GTP.',NULL,NULL,NULL,NULL,NULL),(8924,'UniProt Function',NULL,10743,NULL,'Induces morphological reversion of a cell line transformed by a Ras oncogene. Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates KRIT1 localization to microtubules and membranes. Plays a role in nerve growth factor (NGF)-induced neurite outgrowth. Plays a role in the regulation of embryonic blood vessel formation. Involved in the establishment of basal endothelial barrier function. May be involved in the regulation of the vascular endothelial growth factor receptor KDR expression at endothelial cell-cell junctions.',NULL,NULL,NULL,NULL,NULL),(8925,'UniProt Function',NULL,10744,NULL,'May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter.',NULL,NULL,NULL,NULL,NULL),(8926,'UniProt Function',NULL,10746,NULL,'Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.',NULL,NULL,NULL,NULL,NULL),(8927,'UniProt Function',NULL,10747,NULL,'Involved in GPI anchor biosynthesis (PubMed:8806613, PubMed:27694521). Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis (ECO:0000269|PubMed:27694521).',NULL,NULL,NULL,NULL,NULL),(8928,'UniProt Function',NULL,10748,NULL,'Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to form phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4-phosphate 5-kinases given the abundance of PtdIns4P. Participates in a variety of cellular processes such as actin cytoskeleton organization, cell adhesion, migration and phagocytosis. Required for membrane ruffling formation, actin organization and focal adhesion formation during directional cell migration by controlling integrin-induced translocation of RAC1 to the plasma membrane. Together with PIP5K1C is required for phagocytosis, but they regulate different types of actin remodeling at sequential steps. Promotes particle ingestion by activating WAS that induces Arp2/3 dependent actin polymerization at the nascent phagocytic cup. Together with PIP5K1B is required after stimulation of G-protein coupled receptors for stable platelet adhesion. Plays a role during calcium-induced keratinocyte differentiation. Recruited to the plasma membrane by the E-cadherin/beta-catenin complex where it provides the substrate PtdIns(4,5)P2 for the production of PtdIns(3,4,5)P3, diacylglycerol and inositol 1,4,5-trisphosphate that mobilize internal calcium and drive keratinocyte differentiation. Together with PIP5K1C have a role during embryogenesis. Functions also in the nucleus where acts as an activator of TUT1 adenylyltransferase activity in nuclear speckles, thereby regulating mRNA polyadenylation of a select set of mRNAs (PubMed:18288197, PubMed:19158393, PubMed:20660631). Positively regulates insulin-induced translocation of SLC2A4 to the cell membrane in adipocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(8929,'UniProt Function',NULL,10749,NULL,'Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.',NULL,NULL,NULL,NULL,NULL),(8930,'UniProt Function',NULL,10750,NULL,'Receptor for prostacyclin (prostaglandin I2 or PGI2). The activity of this receptor is mediated by G(s) proteins which activate adenylate cyclase.',NULL,NULL,NULL,NULL,NULL),(8931,'UniProt Function',NULL,10751,NULL,'The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling.',NULL,NULL,NULL,NULL,NULL),(8932,'UniProt Function',NULL,10752,NULL,'Growth factor active in angiogenesis and endothelial cell growth, stimulating their proliferation and migration. It binds to the receptor FLT1/VEGFR-1. Isoform PlGF-2 binds NRP1/neuropilin-1 and NRP2/neuropilin-2 in a heparin-dependent manner. Also promotes cell tumor growth.',NULL,NULL,NULL,NULL,NULL),(8933,'UniProt Function',NULL,10754,NULL,'Inactive serine/threonine-protein kinase that plays a role in cell cycle progression and neuronal differentiation.',NULL,NULL,NULL,NULL,NULL),(8934,'UniProt Function',NULL,10755,NULL,'Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels.',NULL,NULL,NULL,NULL,NULL),(8935,'UniProt Function',NULL,10756,NULL,'Appears to be involved in myelination. Could also participate in ion transport events as addition of plasmolipin to lipid bilayers induces the formation of ion channels, which are voltage-dependent and K(+)-selective (By similarity).',NULL,NULL,NULL,NULL,NULL),(8936,'UniProt Function',NULL,10757,NULL,'Released during platelet aggregation. Neutralizes the anticoagulant effect of heparin because it binds more strongly to heparin than to the chondroitin-4-sulfate chains of the carrier molecule. Chemotactic for neutrophils and monocytes. Inhibits endothelial cell proliferation, the short form is a more potent inhibitor than the longer form.',NULL,NULL,NULL,NULL,NULL),(8937,'UniProt Function',NULL,10758,NULL,'May play a role in cell differentiation in the intestinal epithelium.',NULL,NULL,NULL,NULL,NULL),(8938,'UniProt Function',NULL,10759,NULL,'May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system. Seems to play a role in apoptosis, through translocation of cardiolipin from the inner to the outer mitochondrial membrane which promotes BID recruitment and enhances tBid-induced mitochondrial damages.',NULL,NULL,NULL,NULL,NULL),(8939,'UniProt Function',NULL,10760,NULL,'May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system.',NULL,NULL,NULL,NULL,NULL),(8940,'UniProt Function',NULL,10761,NULL,'Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. May act as a cotranscription partner of NFE2L2 involved in regulation of polyamine-induced transcription of SSAT.',NULL,NULL,NULL,NULL,NULL),(8941,'UniProt Function',NULL,10762,NULL,'Cell surface receptor for SEMA4A and for class 3 semaphorins, such as SEMA3A, SEMA3C and SEMA3E. Plays an important role in cell-cell signaling, and in regulating the migration of a wide spectrum of cell types. Regulates the migration of thymocytes in the medulla. Regulates endothelial cell migration. Plays an important role in ensuring the specificity of synapse formation. Required for normal development of the heart and vasculature (By similarity). Mediates anti-angiogenic signaling in response to SEMA3E.',NULL,NULL,NULL,NULL,NULL),(8942,'UniProt Function',NULL,10763,NULL,'Might be involved in growth regulation, and in myelinization in the peripheral nervous system.',NULL,NULL,NULL,NULL,NULL),(8943,'UniProt Function',NULL,10764,NULL,'Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5\'-ATGCAAAT-3\'. Isoform 1 does not bind DNA.',NULL,NULL,NULL,NULL,NULL),(8944,'UniProt Function',NULL,10765,NULL,'Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(8945,'UniProt Function',NULL,10766,NULL,'Involved in the regulation of both adhesion and cell morphology and cancer progression. Function as an anti-adhesive molecule that maintains an open filtration pathway between neighboring foot processes in the podocyte by charge repulsion. Acts as a pro-adhesive molecule, enhancing the adherence of cells to immobilized ligands, increasing the rate of migration and cell-cell contacts in an integrin-dependent manner. Induces the formation of apical actin-dependent microvilli. Involved in the formation of a preapical plasma membrane subdomain to set up initial epithelial polarization and the apical lumen formation during renal tubulogenesis. Plays a role in cancer development and aggressiveness by inducing cell migration and invasion through its interaction with the actin-binding protein EZR. Affects EZR-dependent signaling events, leading to increased activities of the MAPK and PI3K pathways in cancer cells.',NULL,NULL,NULL,NULL,NULL),(8946,'UniProt Function',NULL,10767,NULL,'Transcription factor that plays a key role in neuronal differentiation (By similarity). Binds preferentially to the recognition sequence which consists of two distinct half-sites, (\'GCAT\') and (\'TAAT\'), separated by a non-conserved spacer region of 0, 2, or 3 nucleotides (By similarity). The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Acts downstream of ASCL1, accessing chromatin that has been opened by ASCL1, and promotes transcription of neuronal genes (By similarity).',NULL,NULL,NULL,NULL,NULL),(8947,'UniProt Function',NULL,10769,NULL,'Removes thioester-linked fatty acyl groups from various substrates including S-palmitoyl-CoA. Has the highest S-thioesterase activity for the acyl groups palmitic and myristic acid followed by other short- and long-chain acyl substrates. However, because of structural constraints, is unable to remove palmitate from peptides or proteins.',NULL,NULL,NULL,NULL,NULL),(8948,'UniProt Function',NULL,10770,NULL,'Binds to F-actin. May be involved in regulation of the actin cytoskeleton (By similarity).',NULL,NULL,NULL,NULL,NULL),(8949,'UniProt Function',NULL,10771,NULL,'Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.',NULL,NULL,NULL,NULL,NULL),(8950,'UniProt Function',NULL,10772,NULL,'Responsible for the post-transcriptional adenylation of the 3\'-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA.',NULL,NULL,NULL,NULL,NULL),(8951,'UniProt Function',NULL,10773,NULL,'Metalloproteinase which specifically cleaves insulin-like growth factor binding protein (IGFBP)-5 at the \'163-Ser-|-Lys-164\' bond. Shows limited proteolysis toward IGFBP-3.',NULL,NULL,NULL,NULL,NULL),(8952,'UniProt Function',NULL,10774,NULL,'Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism (PubMed:12802337, PubMed:25855295). Required for normal body fat and glucose homeostasis. ADIPOQ-binding activates a signaling cascade that leads to increased PPARA activity, and ultimately to increased fatty acid oxidation and glucose uptake. Has intermediate affinity for globular and full-length adiponectin. Required for normal revascularization after chronic ischemia caused by severing of blood vessels (By similarity).',NULL,NULL,NULL,NULL,NULL),(8953,'UniProt Function',NULL,10775,NULL,'Receptor for trypsin and trypsin-like enzymes coupled to G proteins (PubMed:28445455). Its function is mediated through the activation of several signaling pathways including phospholipase C (PLC), intracellular calcium, mitogen-activated protein kinase (MAPK), I-kappaB kinase/NF-kappaB and Rho (PubMed:28445455). Can also be transactivated by cleaved F2R/PAR1. Involved in modulation of inflammatory responses and regulation of innate and adaptive immunity, and acts as a sensor for proteolytic enzymes generated during infection. Generally is promoting inflammation. Can signal synergistically with TLR4 and probably TLR2 in inflammatory responses and modulates TLR3 signaling. Has a protective role in establishing the endothelial barrier; the activity involves coagulation factor X. Regulates endothelial cell barrier integrity during neutrophil extravasation, probably following proteolytic cleavage by PRTN3 (PubMed:23202369). Proposed to have a bronchoprotective role in airway epithelium, but also shown to compromise the airway epithelial barrier by interrupting E-cadherin adhesion (PubMed:10086357). Involved in the regulation of vascular tone; activation results in hypotension presumably mediated by vasodilation. Associates with a subset of G proteins alpha subunits such as GNAQ, GNA11, GNA14, GNA12 and GNA13, but probably not with G(o) alpha, G(i) subunit alpha-1 and G(i) subunit alpha-2. However, according to PubMed:21627585 can signal through G(i) subunit alpha. Believed to be a class B receptor which internalizes as a complex with arrestin and traffic with it to endosomal vesicles, presumably as desensitized receptor, for extended periods of time. Mediates inhibition of TNF-alpha stimulated JNK phosphorylation via coupling to GNAQ and GNA11; the function involves dissociation of RIPK1 and TRADD from TNFR1. Mediates phosphorylation of nuclear factor NF-kappa-B RELA subunit at \'Ser-536\'; the function involves IKBKB and is predominantly independent of G proteins. Involved in cellular migration. Involved in cytoskeletal rearrangement and chemotaxis through beta-arrestin-promoted scaffolds; the function is independent of GNAQ and GNA11 and involves promotion of cofilin dephosphorylation and actin filament severing. Induces redistribution of COPS5 from the plasma membrane to the cytosol and activation of the JNK cascade is mediated by COPS5. Involved in the recruitment of leukocytes to the sites of inflammation and is the major PAR receptor capable of modulating eosinophil function such as proinflammatory cytokine secretion, superoxide production and degranulation. During inflammation promotes dendritic cell maturation, trafficking to the lymph nodes and subsequent T-cell activation. Involved in antimicrobial response of innate immnune cells; activation enhances phagocytosis of Gram-positive and killing of Gram-negative bacteria. Acts synergistically with interferon-gamma in enhancing antiviral responses. Implicated in a number of acute and chronic inflammatory diseases such as of the joints, lungs, brain, gastrointestinal tract, periodontium, skin, and vascular systems, and in autoimmune disorders.',NULL,NULL,NULL,NULL,NULL),(8954,'UniProt Function',NULL,10776,NULL,'Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks (PubMed:17177976, PubMed:18172500, PubMed:19344625, PubMed:19661379, PubMed:23230272). Mediates the poly(ADP-ribosyl)ation of APLF and CHFR (PubMed:17396150). Positively regulates the transcription of MTUS1 and negatively regulates the transcription of MTUS2/TIP150. With EEF1A1 and TXK, forms a complex that acts as a T-helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFN-gamma to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production (PubMed:17177976). Required for PARP9 and DTX3L recruitment to DNA damage sites (PubMed:23230272). PARP1-dependent PARP9-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites (PubMed:23230272). Mediates serine ADP-ribosylation of target proteins following interaction with HPF1; HPF1 conferring serine specificity (PubMed:28190768). Mediates the poly(ADP-ribosyl)ation of histones in a HPF1-dependent manner (PubMed:27067600). Involved in the synthesis of ATP in the nucleus, together with NMNAT1, PARG and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257).',NULL,NULL,NULL,NULL,NULL),(8955,'UniProt Function',NULL,10777,NULL,'Adapter protein involved in asymmetrical cell division and cell polarization processes (PubMed:27925688, PubMed:10954424). Seems to play a central role in the formation of epithelial tight junctions (PubMed:27925688). Targets the phosphatase PTEN to cell junctions (By similarity). Involved in Schwann cell peripheral myelination (By similarity). Association with PARD6B may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly (By similarity). The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (PubMed:10934474). Required for establishment of neuronal polarity and normal axon formation in cultured hippocampal neurons (PubMed:19812038, PubMed:27925688).',NULL,NULL,NULL,NULL,NULL),(8956,'UniProt Function',NULL,10778,NULL,'Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism (PubMed:10364231, PubMed:28190768). This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks (PubMed:10364231). Mediates serine ADP-ribosylation of target proteins following interaction with HPF1; HPF1 conferring serine specificity (PubMed:28190768).',NULL,NULL,NULL,NULL,NULL),(8957,'UniProt Function',NULL,10779,NULL,'RNA-binding protein that acts as a translational repressor.',NULL,NULL,NULL,NULL,NULL),(8958,'UniProt Function',NULL,10782,NULL,'May be involved in cell-cell interaction processes and in cell adhesion.',NULL,NULL,NULL,NULL,NULL),(8959,'UniProt Function',NULL,10783,NULL,'Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8960,'UniProt Function',NULL,10784,NULL,'Possesses both acyltransferase and acetyltransferase activities. Activity is calcium-dependent. Involved in platelet-activating factor (PAF) biosynthesis by catalyzing the conversion of the PAF precursor, 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) into 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (PAF). Also converts lyso-PAF to 1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine (PC), a major component of cell membranes and a PAF precursor. Under resting conditions, acyltransferase activity is preferred. Upon acute inflammatory stimulus, acetyltransferase activity is enhanced and PAF synthesis increases. Also catalyzes the conversion of 1-acyl-sn-glycero-3-phosphocholine to 1,2-diacyl-sn-glycero-3-phosphocholine.',NULL,NULL,NULL,NULL,NULL),(8961,'UniProt Function',NULL,10785,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8962,'UniProt Function',NULL,10786,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(8963,'UniProt Function',NULL,10787,NULL,'Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.',NULL,NULL,NULL,NULL,NULL),(8964,'UniProt Function',NULL,10788,NULL,'Required for centrosome assembly and function (PubMed:12403812, PubMed:15659651, PubMed:16943179). Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2 (PubMed:12403812, PubMed:15659651). Required to anchor microtubules to the centrosome (PubMed:12403812, PubMed:15659651). Involved in the biogenesis of cilia (PubMed:20551181, PubMed:24121310).',NULL,NULL,NULL,NULL,NULL),(8965,'UniProt Function',NULL,10790,NULL,'Proprotein convertase involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues (By similarity). In males, important for ADAM2 processing as well as other acrosomal proteins with roles in fertilization and critical for normal fertilization events such as sperm capacitation, acrosome reaction and binding of sperm to zona pellucida (By similarity). Plays also a role in female fertility, involved in the regulation of trophoblast migration and placental development, may be through the proteolytical processing and activation of proteins such as IGF2 (PubMed:16040806). May also participate in folliculogenesis in the ovaries (By similarity).',NULL,NULL,NULL,NULL,NULL),(8966,'UniProt Function',NULL,10791,NULL,'May play a role in tumorigenesis of colorectal carcinomas with high microsatellite instability (MSI-H).',NULL,NULL,NULL,NULL,NULL),(8967,'UniProt Function',NULL,10792,NULL,'Controls phosphatidylcholine synthesis.',NULL,NULL,NULL,NULL,NULL),(8968,'UniProt Function',NULL,10794,NULL,'Plays a critical role in induction and maintenance of immune tolerance to self. As a ligand for the inhibitory receptor PDCD1/CD279, modulates the activation threshold of T-cells and limits T-cell effector response (PubMed:11015443). The PDCD1/CD279-mediated inhibitory pathway is exploited by tumors to attenuate anti-tumor immunity and facilitate tumor survival (PubMed:28813417, PubMed:28813410). Through a yet unknown activating receptor, may costimulate T-cell subsets that predominantly produce interleukin-10 (IL10) (PubMed:10581077).',NULL,NULL,NULL,NULL,NULL),(8969,'UniProt Function',NULL,10795,NULL,'Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments (PubMed:18039658). Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes to the cell surface or direct it to lysosomes for degradation. Can induce ubiquitination of LDLR leading to its subsequent degradation (PubMed:18799458, PubMed:17461796, PubMed:18197702, PubMed:22074827). Inhibits intracellular degradation of APOB via the autophagosome/lysosome pathway in a LDLR-independent manner. Involved in the disposal of non-acetylated intermediates of BACE1 in the early secretory pathway (PubMed:18660751). Inhibits epithelial Na(+) channel (ENaC)-mediated Na(+) absorption by reducing ENaC surface expression primarily by increasing its proteasomal degradation. Regulates neuronal apoptosis via modulation of LRP8/APOER2 levels and related anti-apoptotic signaling pathways.',NULL,NULL,NULL,NULL,NULL),(8970,'UniProt Function',NULL,10796,NULL,'Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a high affinity for both cAMP and cGMP.',NULL,NULL,NULL,NULL,NULL),(8971,'UniProt Function',NULL,10797,NULL,'May play an important role in tumor biology.',NULL,NULL,NULL,NULL,NULL),(8972,'UniProt Function',NULL,10799,NULL,'Met- and Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress. PENK(114-133) and PENK(237-258) increase glutamate release in the striatum. PENK(114-133) decreases GABA concentration in the striatum.',NULL,NULL,NULL,NULL,NULL),(8973,'UniProt Function',NULL,10800,NULL,'When overexpressed, reduces the number of both early and late non-adherent myeloid progenitor cells.',NULL,NULL,NULL,NULL,NULL),(8974,'UniProt Function',NULL,10801,NULL,'Prevents apoptosis in hepatocellular carcinoma (HCC) cells through interaction with SIAH1, a mediator of apoptosis. May also have a role in cell growth promotion and hepatoma formation. Inhibits the TGF-beta signaling by interacting with the TGF-beta receptor ALK1. When overexpressed, induces the formation of cellular extension, such as filipodia in association with ALK1. Involved at the immediate early stage of adipocyte differentiation (By similarity). May bind to the 5\'-GCCTGTCTTT-3\' DNA sequence of the MB1 domain in the myelin basic protein (MBP) promoter (By similarity).',NULL,NULL,NULL,NULL,NULL),(8975,'UniProt Function',NULL,10803,NULL,'Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins.',NULL,NULL,NULL,NULL,NULL),(8976,'UniProt Function',NULL,10804,NULL,'Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.',NULL,NULL,NULL,NULL,NULL),(8977,'UniProt Function',NULL,10805,NULL,'Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and the adjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNA cleavage occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3\'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5\'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at \'Lys-4\' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In addition to its endonuclease activity, RAG1 also acts as an E3 ubiquitin-protein ligase that mediates monoubiquitination of histone H3. Histone H3 monoubiquitination is required for the joining step of V(D)J recombination. Mediates polyubiquitination of KPNA1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(8978,'UniProt Function',NULL,10806,NULL,'Mediates interactions of advanced glycosylation end products (AGE). These are nonenzymatically glycosylated proteins which accumulate in vascular tissue in aging and at an accelerated rate in diabetes. Acts as a mediator of both acute and chronic vascular inflammation in conditions such as atherosclerosis and in particular as a complication of diabetes. AGE/RAGE signaling plays an important role in regulating the production/expression of TNF-alpha, oxidative stress, and endothelial dysfunction in type 2 diabetes. Interaction with S100A12 on endothelium, mononuclear phagocytes, and lymphocytes triggers cellular activation, with generation of key proinflammatory mediators. Interaction with S100B after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling (By similarity). Receptor for amyloid beta peptide. Contributes to the translocation of amyloid-beta peptide (ABPP) across the cell membrane from the extracellular to the intracellular space in cortical neurons. ABPP-initiated RAGE signaling, especially stimulation of p38 mitogen-activated protein kinase (MAPK), has the capacity to drive a transport system delivering ABPP as a complex with RAGE to the intraneuronal space. Can also bind oligonucleotides.',NULL,NULL,NULL,NULL,NULL),(8979,'UniProt Function',NULL,10807,NULL,'Isomerase that catalyzes the conversion of PGH2 into the more stable prostaglandin E2 (PGE2).',NULL,NULL,NULL,NULL,NULL),(8980,'UniProt Function',NULL,10808,NULL,'Converts arachidonate to prostaglandin H2 (PGH2), a committed step in prostanoid synthesis (PubMed:26859324, PubMed:27226593). Constitutively expressed in some tissues in physiological conditions, such as the endothelium, kidney and brain, and in pathological conditions, such as in cancer. PTGS2 is responsible for production of inflammatory prostaglandins. Up-regulation of PTGS2 is also associated with increased cell adhesion, phenotypic changes, resistance to apoptosis and tumor angiogenesis. In cancer cells, PTGS2 is a key step in the production of prostaglandin E2 (PGE2), which plays important roles in modulating motility, proliferation and resistance to apoptosis.',NULL,NULL,NULL,NULL,NULL),(8981,'UniProt Function',NULL,10809,NULL,'Transcriptional regulator of the circadian clock components: CLOCK, ARNTL/BMAL1, ARNTL2/BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation.',NULL,NULL,NULL,NULL,NULL),(8982,'UniProt Function',NULL,10810,NULL,'Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles. The RALA-exocyst complex regulates integrin-dependent membrane raft exocytosis and growth signaling (PubMed:20005108). Key regulator of LPAR1 signaling and competes with GRK2 for binding to LPAR1 thus affecting the signaling properties of the receptor. Required for anchorage-independent proliferation of transformed cells (PubMed:19306925). During mitosis, supports the stabilization and elongation of the intracellular bridge between dividing cells. Cooperates with EXOC2 to recruit other components of the exocyst to the early midbody (PubMed:18756269).',NULL,NULL,NULL,NULL,NULL),(8983,'UniProt Function',NULL,10812,NULL,'RNA-binding protein that acts as a transcriptional cofactor for cholesterol biosynthetic genes in the liver. Binds the lipid-responsive non-coding RNA LeXis and is required for LeXis-mediated effect on cholesterogenesis (By similarity). May be a heterogeneous nuclear ribonucleoprotein (hnRNP) (PubMed:9376072).',NULL,NULL,NULL,NULL,NULL),(8984,'UniProt Function',NULL,10813,NULL,'Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(8985,'UniProt Function',NULL,10814,NULL,'Cytosolic CRABPs may regulate the access of retinoic acid to the nuclear retinoic acid receptors.',NULL,NULL,NULL,NULL,NULL),(8986,'UniProt Function',NULL,10815,NULL,'Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent.',NULL,NULL,NULL,NULL,NULL),(8987,'UniProt Function',NULL,10816,NULL,'Hydrolyzes a variety of proteins.',NULL,NULL,NULL,NULL,NULL),(8988,'UniProt Function',NULL,10817,NULL,'Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important role in collagen metabolism because the high level of iminoacids in collagen.',NULL,NULL,NULL,NULL,NULL),(8989,'UniProt Function',NULL,10818,NULL,'Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity.',NULL,NULL,NULL,NULL,NULL),(8990,'UniProt Function',NULL,10819,NULL,'Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes.',NULL,NULL,NULL,NULL,NULL),(8991,'UniProt Function',NULL,10820,NULL,'Peroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin.',NULL,NULL,NULL,NULL,NULL),(8992,'UniProt Function',NULL,10821,NULL,'Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.',NULL,NULL,NULL,NULL,NULL),(8993,'UniProt Function',NULL,10822,NULL,'Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. Represses the transcriptional activity of MYC.',NULL,NULL,NULL,NULL,NULL),(8994,'UniProt Function',NULL,10823,NULL,'ADP-ribosyltransferase (PubMed:16061477, PubMed:27796300). By mono-ADP-ribosylating STAT1 at \'Glu-657\' and \'Glu-705\' and thus decreasing STAT1 phosphorylation, negatively regulates pro-inflammatory cytokines production in macrophages in response to IFNG stimulation (PubMed:27796300). Mono-ADP-ribosylates STAT6 (By similarity). Enhances STAT6-dependent transcription (By similarity). In macrophages, positively regulates MRC1 expression in response to IL4 stimulation by promoting STAT6 phosphorylation (PubMed:27796300). Mono-ADP-ribosylates PARP9 (PubMed:27796300).',NULL,NULL,NULL,NULL,NULL),(8995,'UniProt Function',NULL,10824,NULL,'Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. Is involved in the reorganization of the actin cytoskeleton and formation of lamellipodia. Plays a role in cell adhesion, cell spreading, establishment or maintenance of cell polarity, and cell migration.',NULL,NULL,NULL,NULL,NULL),(8996,'UniProt Function',NULL,10825,NULL,'This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity).',NULL,NULL,NULL,NULL,NULL),(8997,'UniProt Function',NULL,10826,NULL,'Functions as a suppressor of the biological clock that drives the daily circadian rhythms of cells throughout the body (PubMed:25936801). Acts as a nuclear repressor of the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock components (PubMed:25936801). Inhibits circadian clock function in cancer cells, when overexpressed (PubMed:25936801).',NULL,NULL,NULL,NULL,NULL),(8998,'UniProt Function',NULL,10827,NULL,'Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs.',NULL,NULL,NULL,NULL,NULL),(8999,'UniProt Function',NULL,10828,NULL,'May regulate TLP1 expression and telomerase activity, thus enabling certain prostatic cells to resist apoptosis.',NULL,NULL,NULL,NULL,NULL),(9000,'UniProt Function',NULL,10829,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9001,'UniProt Function',NULL,10830,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9002,'UniProt Function',NULL,10831,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9003,'UniProt Function',NULL,10832,NULL,'Single-stranded nucleic acid binding protein that binds preferentially to oligo dC.',NULL,NULL,NULL,NULL,NULL),(9004,'UniProt Function',NULL,10833,NULL,'Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9005,'UniProt Function',NULL,10834,NULL,'Calcium-dependent cell-adhesion protein (By similarity). May play a role in activity-induced synaptic reorganization underlying long term memory (By similarity). Could be involved in CDH2 internalization through TAOK2/p38 MAPK pathway. In hippocampal neurons, may play a role in the down-regulation of dendritic spines, maybe through its action on CDH2 endocytosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(9006,'UniProt Function',NULL,10835,NULL,'May play a role in transcription elongation or in coupling transcription to pre-mRNA processing through its association with the phosphorylated C-terminal domain (CTD) of RNAPII largest subunit.',NULL,NULL,NULL,NULL,NULL),(9007,'UniProt Function',NULL,10836,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). Plays a redundant role with PCGF3 as part of a PRC1-like complex that mediates monoubiquitination of histone H2A \'Lys-119\' on the X chromosome and is required for normal silencing of one copy of the X chromosome in XX females (By similarity).',NULL,NULL,NULL,NULL,NULL),(9008,'UniProt Function',NULL,10837,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9009,'UniProt Function',NULL,10838,NULL,'Transcriptional repressor (PubMed:12167161). May modulate the levels of histone H3K4Me3 by activating KDM5D histone demethylase (PubMed:17320162). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility (PubMed:12167161). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332).',NULL,NULL,NULL,NULL,NULL),(9010,'UniProt Function',NULL,10839,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9011,'UniProt Function',NULL,10840,NULL,'May be involved in growth and survival of prostate cancer cells through the TAF-Ibeta pathway.',NULL,NULL,NULL,NULL,NULL),(9012,'UniProt Function',NULL,10841,NULL,'May function in the control of the neuroendocrine secretory pathway. Proposed be a specific endogenous inhibitor of PCSK1. ProSAAS and Big PEN-LEN, both containing the C-terminal inhibitory domain, but not the further processed peptides reduce PCSK1 activity in the endoplasmic reticulum and Golgi. It reduces the activity of the 84 kDa form but not the autocatalytically derived 66 kDa form of PCSK1. Subsequent processing of proSAAS may eliminate the inhibition. Slows down convertase-mediated processing of proopiomelanocortin and proenkephalin. May control the intracellular timing of PCSK1 rather than its total level of activity. The function of the processed secreted peptides is not known (By similarity).',NULL,NULL,NULL,NULL,NULL),(9013,'UniProt Function',NULL,10842,NULL,'Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway.',NULL,NULL,NULL,NULL,NULL),(9014,'UniProt Function',NULL,10843,NULL,'Promotes cell proliferation. Modulates apoptotic pathways. Increases mitogen-activated protein kinase activity and STK26 activity (PubMed:27807006). Important for cell migration, and for normal structure and assembly of the Golgi complex (PubMed:27807006). Important for KDR/VEGFR2 signaling. Increases the stability of KDR/VEGFR2 and prevents its breakdown. Required for normal cardiovascular development. Required for normal angiogenesis, vasculogenesis and hematopoiesis during embryonic development (By similarity).',NULL,NULL,NULL,NULL,NULL),(9015,'UniProt Function',NULL,10844,NULL,'Kinase that plays a key role in the regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism. Mediates cellular responses to insulin. Plays an important role in maintaining normal blood glucose levels and in metabolic adaptation to nutrient availability. Via its regulation of pyruvate dehydrogenase activity, plays an important role in maintaining normal blood pH and in preventing the accumulation of ketone bodies under starvation. Plays a role in the regulation of cell proliferation and in resistance to apoptosis under oxidative stress. Plays a role in p53/TP53-mediated apoptosis.',NULL,NULL,NULL,NULL,NULL),(9016,'UniProt Function',NULL,10847,NULL,'Catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to a cysteine at the fourth position from the C-terminus of proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. Known substrates include RAC1, RAC2, RAP1A and RAP1B.',NULL,NULL,NULL,NULL,NULL),(9017,'UniProt Function',NULL,10848,NULL,'Polycomb group (PcG) that specifically binds histone H3 trimethylated at \'Lys-36\' (H3K36me3) and recruits the PRC2 complex. Probably involved in the transition from an active state to a repressed state in embryonic stem cells: acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting H3K36me3 histone demethylases RIOX1 or KDM2B, leading to demethylation of H3K36 and recruitment of the PRC2 complex that mediates H3K27me3 methylation, followed by de novo silencing. Recruits the PRC2 complex to CpG islands and contributes to embryonic stem cell self-renewal. Also binds dimethylated at \'Lys-36\' (H3K36me2). Isoform 1 and isoform 2 inhibit transcription from an HSV-tk promoter.',NULL,NULL,NULL,NULL,NULL),(9018,'UniProt Function',NULL,10849,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility.',NULL,NULL,NULL,NULL,NULL),(9019,'UniProt Function',NULL,10850,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility.',NULL,NULL,NULL,NULL,NULL),(9020,'UniProt Function',NULL,10853,NULL,'Component of a mechanosensitive channel required for rapidly adapting mechanically activated (MA) currents. Required for Merkel-cell mechanotransduction. Plays a major role in light-touch mechanosensation.',NULL,NULL,NULL,NULL,NULL),(9021,'UniProt Function',NULL,10854,NULL,'During primary cilia disassembly, involved in cilia disassembly. Required specifically to control cilia retraction as well as the liberation and duplication of the basal body/centrosome. May act by stimulating AURKA activity at the basal body in a cell cycle-dependent manner.',NULL,NULL,NULL,NULL,NULL),(9022,'UniProt Function',NULL,10855,NULL,'Inositol 5-phosphatase, which converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate. Also converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate in vitro. May be involved in modulation of the function of inositol and phosphatidylinositol polyphosphate-binding proteins that are present at membranes ruffles (By similarity).',NULL,NULL,NULL,NULL,NULL),(9023,'UniProt Function',NULL,10856,NULL,'Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity).',NULL,NULL,NULL,NULL,NULL),(9024,'UniProt Function',NULL,10858,NULL,'Required for zonula adherens biogenesis and maintenance. Acts via its interaction with KIAA1543/Nezha, which anchors microtubules at their minus-ends to zonula adherens, leading to the recruitment of KIFC3 kinesin to the junctional site.',NULL,NULL,NULL,NULL,NULL),(9025,'UniProt Function',NULL,10859,NULL,'Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle (By similarity).',NULL,NULL,NULL,NULL,NULL),(9026,'UniProt Function',NULL,10860,NULL,'May play a role in junctional plaques.',NULL,NULL,NULL,NULL,NULL),(9027,'UniProt Function',NULL,10861,NULL,'Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix.',NULL,NULL,NULL,NULL,NULL),(9028,'UniProt Function',NULL,10862,NULL,'PKC-related serine/threonine-protein kinase and Rho/Rac effector protein that participates in specific signal transduction responses in the cell. Plays a role in the regulation of cell cycle progression, actin cytoskeleton assembly, cell migration, cell adhesion, tumor cell invasion and transcription activation signaling processes. Phosphorylates CTTN in hyaluronan-induced astrocytes and hence decreases CTTN ability to associate with filamentous actin. Phosphorylates HDAC5, therefore lead to impair HDAC5 import. Direct RhoA target required for the regulation of the maturation of primordial junctions into apical junction formation in bronchial epithelial cells. Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner. Stimulates FYN kinase activity that is required for establishment of skin cell-cell adhesion during keratinocytes differentiation. Regulates epithelial bladder cells speed and direction of movement during cell migration and tumor cell invasion. Inhibits Akt pro-survival-induced kinase activity. Mediates Rho protein-induced transcriptional activation via the c-fos serum response factor (SRF). Phosphorylates HCV NS5B leading to stimulation of HCV RNA replication. Involved in the negative regulation of ciliogenesis (PubMed:27104747).',NULL,NULL,NULL,NULL,NULL),(9029,'UniProt Function',NULL,10863,NULL,'In vitro, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space. Phosphatidic acid import is required for cardiolipin (CL) synthesis in the mitochondrial inner membrane.',NULL,NULL,NULL,NULL,NULL),(9030,'UniProt Function',NULL,10864,NULL,'Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity (PubMed:9593714, PubMed:15664000, PubMed:18162525, PubMed:18597632). Cleaves ASARM peptides between Ser and Glu or Asp residues (PubMed:18597632). Regulates osteogenic cell differentiation and bone mineralization through the cleavage of the MEPE-derived ASARM peptide (PubMed:18597632). Promotes dentin mineralization and renal phosphate reabsorption by cleaving DMP1- and MEPE-derived ASARM peptides (PubMed:18597632, PubMed:18162525). Inhibits the cleavage of MEPE by CTSB/cathepsin B thus preventing MEPE degradation (PubMed:12220505).',NULL,NULL,NULL,NULL,NULL),(9031,'UniProt Function',NULL,10865,NULL,'Glucose 1,6-bisphosphate synthase using 1,3-bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars as acceptors, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1-phosphate. 5 or 6-phosphosugars are bad substrates, with the exception of glucose 6-phosphate. Also synthesizes ribose 1,5-bisphosphate. Has only low phosphopentomutase and phosphoglucomutase activities.',NULL,NULL,NULL,NULL,NULL),(9032,'UniProt Function',NULL,10866,NULL,'Prohibitin inhibits DNA synthesis. It has a role in regulating proliferation. As yet it is unclear if the protein or the mRNA exhibits this effect. May play a role in regulating mitochondrial respiration activity and in aging.',NULL,NULL,NULL,NULL,NULL),(9033,'UniProt Function',NULL,10868,NULL,'Seems to be involved in regulation of apoptosis. May be involved in detachment-mediated programmed cell death. May mediate apoptosis during neuronal development. May be involved in regulation of anti-apoptotic effects of IGF1. May be involved in translational regulation.',NULL,NULL,NULL,NULL,NULL),(9034,'UniProt Function',NULL,10869,NULL,'Plays a role in regulating placenta growth. May act via its PH domain that competes with other PH domain-containing proteins, thereby preventing their binding to membrane lipids (By similarity).',NULL,NULL,NULL,NULL,NULL),(9035,'UniProt Function',NULL,10870,NULL,'p53/TP53-regulated repressor of Akt/AKT1 signaling. Represses AKT1 by preventing AKT1-binding to membrane lipids, thereby inhibiting AKT1 translocation to the cellular membrane and activation. Contributes to p53/TP53-dependent apoptosis by repressing AKT1 activity. Its direct transcription regulation by p53/TP53 may explain how p53/TP53 can negatively regulate AKT1. May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(9036,'UniProt Function',NULL,10871,NULL,'Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho). Involved in the generation of inorganic phosphate for bone mineralization.',NULL,NULL,NULL,NULL,NULL),(9037,'UniProt Function',NULL,10872,NULL,'Phosphatase that has high activity toward pyridoxal 5\'-phosphate (PLP). Also active at much lower level toward pyrophosphate, phosphoethanolamine (PEA), phosphocholine (PCho), phospho-l-tyrosine, fructose-6-phosphate, p-nitrophenyl phosphate, and h-glycerophosphate.',NULL,NULL,NULL,NULL,NULL),(9038,'UniProt Function',NULL,10873,NULL,'Pore-forming subunit of a mechanosensitive non-specific cation channel (PubMed:23479567, PubMed:23695678). Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling (PubMed:20016066). In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor that promotes endothelial cell organization and alignment in the direction of blood flow through calpain activation (PubMed:25119035). Plays a key role in blood vessel formation and vascular structure in both development and adult physiology (By similarity).',NULL,NULL,NULL,NULL,NULL),(9039,'UniProt Function',NULL,10874,NULL,'Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.',NULL,NULL,NULL,NULL,NULL),(9040,'UniProt Function',NULL,10875,NULL,'Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation.',NULL,NULL,NULL,NULL,NULL),(9041,'UniProt Function',NULL,10876,NULL,'Phosphorylates phosphatidylinositol (PI) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate (PIP). May regulate Golgi disintegration/reorganization during mitosis, possibly via its phosphorylation. Involved in Golgi-to-plasma membrane trafficking (By similarity).',NULL,NULL,NULL,NULL,NULL),(9042,'UniProt Function',NULL,10878,NULL,'Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway and the steroid hormone signaling pathway. Involved in regulating STAT3 signaling via inhibiting STAT3 DNA-binding and suppressing cell growth. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation (PubMed:21965678, PubMed:9388184). Sumoylates CCAR2 which promotes its interaction with SIRT1 (PubMed:25406032). Diminishes the sumoylation of ZFHX3 by preventing the colocalization of ZFHX3 with SUMO1 in the nucleus (PubMed:24651376).',NULL,NULL,NULL,NULL,NULL),(9043,'UniProt Function',NULL,10879,NULL,'Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.',NULL,NULL,NULL,NULL,NULL),(9044,'UniProt Function',NULL,10880,NULL,'Required for the transport of GPI-anchored proteins to the plasma membrane (PubMed:24367057). Probable acetyltransferase, which acetylates the inositol ring of phosphatidylinositol during biosynthesis of GPI-anchor. Acetylation during GPI-anchor biosynthesis is not essential for the subsequent mannosylation and is usually removed soon after the attachment of GPIs to proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9045,'UniProt Function',NULL,10881,NULL,'Essential component of glycosylphosphatidylinositol-mannosyltransferase 1 which transfers the first of the 4 mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Probably acts by stabilizing the mannosyltransferase PIGM (By similarity).',NULL,NULL,NULL,NULL,NULL),(9046,'UniProt Function',NULL,10883,NULL,'Endoribonuclease that plays a central role in postnatal germ cells by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Directly binds methylated piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Strongly prefers a uridine in the first position of their guide (g1U preference, also named 1U-bias). Not involved in the piRNA amplification loop, also named ping-pong amplification cycle. Acts as an endoribonuclease that cleaves transposon messenger RNAs. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation. Probable component of some RISC complex, which mediates RNA cleavage and translational silencing. Also plays a role in the formation of chromatoid bodies and is required for some miRNAs stability. Required to sequester RNF8 in the cytoplasm until late spermatogenesis; RNF8 being released upon ubiquitination and degradation of PIWIL1.',NULL,NULL,NULL,NULL,NULL),(9047,'UniProt Function',NULL,10883,NULL,'Isoform 3: May be a negative developmental regulator (PubMed:12037681, PubMed:16287078).',NULL,NULL,NULL,NULL,NULL),(9048,'UniProt Function',NULL,10884,NULL,'Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes.',NULL,NULL,NULL,NULL,NULL),(9049,'UniProt Function',NULL,10885,NULL,'May play a role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation (By similarity).',NULL,NULL,NULL,NULL,NULL),(9050,'UniProt Function',NULL,10886,NULL,'Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements (By similarity). Associates with secondary piRNAs antisense and PIWIL2/MILI is required for such association (By similarity). The piRNA process acts upstream of known mediators of DNA methylation (By similarity). Does not show endonuclease activity (By similarity). Plays a key role in the piRNA amplification loop, also named ping-pong amplification cycle, by acting as a \'slicer-incompetent\' component that loads cleaved piRNAs from the \'slicer-competent\' component PIWIL2 and target them on genomic transposon loci in the nucleus (By similarity). May be involved in the chromatin-modifying pathway by inducing \'Lys-9\' methylation of histone H3 at some loci (PubMed:17544373). In addition to its role in germline, PIWIL4 also plays a role in the regulation of somatic cells activities. Plays a role in pancreatic beta cell function and insulin secretion (By similarity). Involved in maintaining cell morphology and functional integrity of retinal epithelial through Akt/GSK3alpha/beta signaling pathway (PubMed:28025795). When overexpressed, acts as an oncogene by inhibition of apoptosis and promotion of cells proliferation in tumors (PubMed:22483988).',NULL,NULL,NULL,NULL,NULL),(9051,'UniProt Function',NULL,10887,NULL,'Phosphatidylinositol transfer proteins mediate the monomeric transport of lipids by shielding a lipid from the aqueous environment and binding the lipid in a hydrophobic cavity. Able to transfer phosphatidylinositol in vitro.',NULL,NULL,NULL,NULL,NULL),(9052,'UniProt Function',NULL,10888,NULL,'May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation.',NULL,NULL,NULL,NULL,NULL),(9053,'UniProt Function',NULL,10889,NULL,'May play a role in early endosome fusion upstream of RAB5, hence regulating receptor trafficking and fluid-phase transport. Enhances cellular sensitivity to TNF-induced apoptosis (PubMed:18288467).',NULL,NULL,NULL,NULL,NULL),(9054,'UniProt Function',NULL,10890,NULL,'Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123, PubMed:20208530). Involved in the transport of lysosomal enzyme precursors to lysosomes. Required for transport from early to late endosomes (By similarity).',NULL,NULL,NULL,NULL,NULL),(9055,'UniProt Function',NULL,10891,NULL,'May play a role in junctional plaques.',NULL,NULL,NULL,NULL,NULL),(9056,'UniProt Function',NULL,10893,NULL,'Receptor for prostaglandin E2 (PGE2) (PubMed:8307176, PubMed:7883006, PubMed:8117308, PubMed:8135729, PubMed:7981210). The activity of this receptor can couple to both the inhibition of adenylate cyclase mediated by G(i) proteins, and to an elevation of intracellular calcium (PubMed:7883006, PubMed:8117308, PubMed:8135729, PubMed:7981210). Required for normal development of fever in response to pyrinogens, including IL1B, prostaglandin E2 and bacterial lipopolysaccharide (LPS). Required for normal potentiation of platelet aggregation by prostaglandin E2, and thus plays a role in the regulation of blood coagulation. Required for increased HCO3(-) secretion in the duodenum in response to mucosal acidification, and thereby contributes to the protection of the mucosa against acid-induced ulceration. Not required for normal kidney function, normal urine volume and osmolality (By similarity).',NULL,NULL,NULL,NULL,NULL),(9057,'UniProt Function',NULL,10894,NULL,'Molecular tethering protein that connects endoplasmic reticulum and mitochondria membranes (PubMed:29097544). PDZD8-dependent endoplasmic reticulum-mitochondria membrane tethering is essential for endoplasmic reticulum-mitochondria Ca(2+) transfer (PubMed:29097544). In neurons, involved in the regulation of dendritic Ca(2+) dynamics by regulating mitochondrial Ca(2+) uptake in neurons (PubMed:29097544). Plays an indirect role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). May inhibit herpes simplex virus 1 infection at an early stage (PubMed:21549406).',NULL,NULL,NULL,NULL,NULL),(9058,'UniProt Function',NULL,10895,NULL,'Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.',NULL,NULL,NULL,NULL,NULL),(9059,'UniProt Function',NULL,10896,NULL,'Rab effector protein acting as linker between gamma-adaptin, RAB4A or RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act as a ubiquitin ligase (By similarity).',NULL,NULL,NULL,NULL,NULL),(9060,'UniProt Function',NULL,10897,NULL,'E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates IL1B-induced IRAK1 \'Lys-63\'-linked polyubiquitination and possibly \'Lys-48\'-linked ubiquitination. May be important for LPS- and IL1B-induced MAP3K7-dependent, but not MAP3K3-dependent, NF-kappa-B activation. Can activate the MAP (mitogen activated protein) kinase pathway leading to activation of ELK1.',NULL,NULL,NULL,NULL,NULL),(9061,'UniProt Function',NULL,10898,NULL,'Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as cell spreading and the formation of actin-based protusions including lamellipodia and membrane ruffles. Promotes cell adhesion and spreading on fibrinogen in a CIB1 and alpha-IIb/beta3 integrin-mediated manner.',NULL,NULL,NULL,NULL,NULL),(9062,'UniProt Function',NULL,10899,NULL,'Regulates the expression of selective PPARGC1A/B and ESRRA/B/G target genes with roles in glucose and lipid metabolism, energy transfer, contractile function, muscle mitochondrial biogenesis and oxidative capacity. Required for the efficient induction of MT-CO2, MT-CO3, COX4I1, TFB1M, TFB2M, POLRMT and SIRT3 by PPARGC1A. Positively regulates the PPARGC1A/ESRRG-induced expression of CKMT2, TNNI3 and SLC2A4 and negatively regulates the PPARGC1A/ESRRG-induced expression of PDK4.',NULL,NULL,NULL,NULL,NULL),(9063,'UniProt Function',NULL,10900,NULL,'Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act as a scaffold. Inhibits KDM1A-mediated demethylation of \'Lys-4\' of histone H3 in vitro, suggesting a role in demethylation regulation.',NULL,NULL,NULL,NULL,NULL),(9064,'UniProt Function',NULL,10902,NULL,'Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI (Probable).',NULL,NULL,NULL,NULL,NULL),(9065,'UniProt Function',NULL,10903,NULL,'Prostaglandin inactivation. Contributes to the regulation of events that are under the control of prostaglandin levels. Catalyzes the NAD-dependent dehydrogenation of lipoxin A4 to form 15-oxo-lipoxin A4. Inhibits in vivo proliferation of colon cancer cells.',NULL,NULL,NULL,NULL,NULL),(9066,'UniProt Function',NULL,10904,NULL,'GTPase activator for RAN (PubMed:8146159, PubMed:8896452, PubMed:16428860). Converts cytoplasmic GTP-bound RAN to GDP-bound RAN, which is essential for RAN-mediated nuclear import and export (PubMed:8896452, PubMed:27160050). Mediates dissociation of cargo from nuclear export complexes containing XPO1, RAN and RANBP2 after nuclear export (PubMed:27160050).',NULL,NULL,NULL,NULL,NULL),(9067,'UniProt Function',NULL,10905,NULL,'Oxidoreductase with a preference for NAD. Oxidizes all-trans-retinol and 13-cis-retinol to the corresponding aldehydes. Has higher activity towards CRBP-bound retinol than with free retinol. Oxidizes 3-alpha-hydroxysteroids. Oxidizes androstanediol and androsterone to dihydrotestosterone and androstanedione. Can also catalyze the reverse reaction.',NULL,NULL,NULL,NULL,NULL),(9068,'UniProt Function',NULL,10906,NULL,'Component of a progesterone-binding protein complex (PubMed:28396637). Binds progesterone (PubMed:25675345). Has many reported cellular functions (heme homeostasis, interaction with CYPs).',NULL,NULL,NULL,NULL,NULL),(9069,'UniProt Function',NULL,10907,NULL,'Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity.',NULL,NULL,NULL,NULL,NULL),(9070,'UniProt Function',NULL,10908,NULL,'Lysine demethylase that demethylates both histones and non-histone proteins. Enzymatically inactive by itself, and becomes active following phosphorylation by PKA: forms a complex with ARID5B and mediates demethylation of methylated ARID5B. Demethylation of ARID5B leads to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated \'Lys-9\' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. PHF2 is recruited to trimethylated \'Lys-4\' of histone H3 (H3K4me3) at rDNA promoters and promotes expression of rDNA.',NULL,NULL,NULL,NULL,NULL),(9071,'UniProt Function',NULL,10909,NULL,'Acts as a ligand for PILRA in neural tissues, where it may be involved in immune regulation.',NULL,NULL,NULL,NULL,NULL),(9072,'UniProt Function',NULL,10911,NULL,'Intracellular mono-ADP-ribosyltransferase that may play a role in different processes through the mono-ADP-ribosylation of proteins involved in those processes (PubMed:23103912, PubMed:22701565). May play a role in the unfolded protein response (UPR), by ADP-ribosylating and activating EIF2AK3 and ERN1, two important UPR effectors (PubMed:23103912). May also mediate mono-ADP-ribosylation of karyopherin KPNB1 a nuclear import factor (PubMed:22701565). May not modify proteins on arginine, cysteine or glutamate residues compared to other mono-ADP-ribosyltransferases (PubMed:22701565).',NULL,NULL,NULL,NULL,NULL),(9073,'UniProt Function',NULL,10912,NULL,'Poly [ADP-ribose] polymerase using NAD(+) as a substrate to transfer ADP-ribose onto glutamic acid residues of a protein acceptor; repeated rounds of ADP-ribosylation leads to the formation of poly(ADPribose) chains on the protein, thereby altering the function of the target protein. May play a role in the adaptive response to chemical exposure (TCDD) and thereby mediates certain effects of the chemicals (By similarity).',NULL,NULL,NULL,NULL,NULL),(9074,'UniProt Function',NULL,10913,NULL,'Protein and nucleotide deglycase that catalyzes the deglycation of the Maillard adducts formed between amino groups of proteins or nucleotides and reactive carbonyl groups of glyoxals (PubMed:25416785, PubMed:28596309). Thus, functions as a protein deglycase that repairs methylglyoxal- and glyoxal-glycated proteins, and releases repaired proteins and lactate or glycolate, respectively. Deglycates cysteine, arginine and lysine residues in proteins, and thus reactivates these proteins by reversing glycation by glyoxals. Acts on early glycation intermediates (hemithioacetals and aminocarbinols), preventing the formation of advanced glycation endproducts (AGE) that cause irreversible damage (PubMed:25416785, PubMed:28013050, PubMed:26995087). Also functions as a nucleotide deglycase able to repair glycated guanine in the free nucleotide pool (GTP, GDP, GMP, dGTP) and in DNA and RNA. Is thus involved in a major nucleotide repair system named guanine glycation repair (GG repair), dedicated to reversing methylglyoxal and glyoxal damage via nucleotide sanitization and direct nucleic acid repair (PubMed:28596309). Also displays an apparent glyoxalase activity that in fact reflects its deglycase activity (PubMed:22523093). Plays an important role in cell protection against oxidative stress and cell death acting as oxidative stress sensor and redox-sensitive chaperone and protease; functions probably related to its primary function (PubMed:17015834, PubMed:20304780, PubMed:18711745, PubMed:12796482, PubMed:19229105, PubMed:25416785, PubMed:26995087). It is involved in neuroprotective mechanisms like the stabilization of NFE2L2 and PINK1 proteins, male fertility as a positive regulator of androgen signaling pathway as well as cell growth and transformation through, for instance, the modulation of NF-kappa-B signaling pathway (PubMed:12612053, PubMed:15502874, PubMed:14749723, PubMed:17015834, PubMed:21097510, PubMed:18711745). Eliminates hydrogen peroxide and protects cells against hydrogen peroxide-induced cell death (PubMed:16390825). Required for correct mitochondrial morphology and function as well as for autophagy of dysfunctional mitochondria (PubMed:19229105, PubMed:16632486). Plays a role in regulating expression or stability of the mitochondrial uncoupling proteins SLC25A14 and SLC25A27 in dopaminergic neurons of the substantia nigra pars compacta and attenuates the oxidative stress induced by calcium entry into the neurons via L-type channels during pacemaking (PubMed:18711745). Regulates astrocyte inflammatory responses, may modulate lipid rafts-dependent endocytosis in astrocytes and neuronal cells (PubMed:23847046). In pancreatic islets, involved in the maintenance of mitochondrial reactive oxygen species (ROS) levels and glucose homeostasis in an age- and diet dependent manner. Protects pancreatic beta cells from cell death induced by inflammatory and cytotoxic setting (By similarity). Binds to a number of mRNAs containing multiple copies of GG or CC motifs and partially inhibits their translation but dissociates following oxidative stress (PubMed:18626009). Metal-binding protein able to bind copper as well as toxic mercury ions, enhances the cell protection mechanism against induced metal toxicity (PubMed:23792957). In macrophages, interacts with the NADPH oxidase subunit NCF1 to direct NADPH oxidase-dependent ROS production, and protects against sepsis (By similarity).',NULL,NULL,NULL,NULL,NULL),(9075,'UniProt Function',NULL,10914,NULL,'Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS.',NULL,NULL,NULL,NULL,NULL),(9076,'UniProt Function',NULL,10915,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation.',NULL,NULL,NULL,NULL,NULL),(9077,'UniProt Function',NULL,10916,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9078,'UniProt Function',NULL,10917,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9079,'UniProt Function',NULL,10918,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9080,'UniProt Function',NULL,10920,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9081,'UniProt Function',NULL,10921,NULL,'Potential calcium-dependent cell-adhesion protein.',NULL,NULL,NULL,NULL,NULL),(9082,'UniProt Function',NULL,10922,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9083,'UniProt Function',NULL,10923,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9084,'UniProt Function',NULL,10924,NULL,'Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration involved in valve formation (PubMed:26258302).',NULL,NULL,NULL,NULL,NULL),(9085,'UniProt Function',NULL,10925,NULL,'Increases proliferation of preadipocytes without affecting adipocytic differentiation.',NULL,NULL,NULL,NULL,NULL),(9086,'UniProt Function',NULL,10926,NULL,'Auxiliary protein of DNA polymerase delta and is involved in the control of eukaryotic DNA replication by increasing the polymerase\'s processibility during elongation of the leading strand. Induces a robust stimulatory effect on the 3\'-5\' exonuclease and 3\'-phosphodiesterase, but not apurinic-apyrimidinic (AP) endonuclease, APEX2 activities. Has to be loaded onto DNA in order to be able to stimulate APEX2. Plays a key role in DNA damage response (DDR) by being conveniently positioned at the replication fork to coordinate DNA replication with DNA repair and DNA damage tolerance pathways (PubMed:24939902). Acts as a loading platform to recruit DDR proteins that allow completion of DNA replication after DNA damage and promote postreplication repair: Monoubiquitinated PCNA leads to recruitment of translesion (TLS) polymerases, while \'Lys-63\'-linked polyubiquitination of PCNA is involved in error-free pathway and employs recombination mechanisms to synthesize across the lesion.',NULL,NULL,NULL,NULL,NULL),(9087,'UniProt Function',NULL,10928,NULL,'Potential calcium-dependent cell-adhesion protein.',NULL,NULL,NULL,NULL,NULL),(9088,'UniProt Function',NULL,10929,NULL,'Binds to the C-terminal propeptide of type I procollagen and enhances procollagen C-proteinase activity.',NULL,NULL,NULL,NULL,NULL),(9089,'UniProt Function',NULL,10929,NULL,'C-terminal processed part of PCPE (CT-PCPE) may have an metalloproteinase inhibitory activity.',NULL,NULL,NULL,NULL,NULL),(9090,'UniProt Function',NULL,10930,NULL,'Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a higher affinity for cGMP than for cAMP.',NULL,NULL,NULL,NULL,NULL),(9091,'UniProt Function',NULL,10931,NULL,'This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme.',NULL,NULL,NULL,NULL,NULL),(9092,'UniProt Function',NULL,10932,NULL,'As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP.',NULL,NULL,NULL,NULL,NULL),(9093,'UniProt Function',NULL,10933,NULL,'Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Plays an important role in growth and invasion of malignant melanoma cells (e.g. pseudomyxoma peritonei (PMP) cell line) (PubMed:24705027).',NULL,NULL,NULL,NULL,NULL),(9094,'UniProt Function',NULL,10933,NULL,'Isoform PDE2A2: Regulates mitochondrial cAMP levels and respiration (By similarity). Involved in the regulation of mitochondria morphology/dynamics and apoptotic cell death via local modulation of cAMP/PKA signaling in the mitochondrion, including the monitoring of local cAMP levels at the outer mitochondrial membrane and of PKA-dependent phosphorylation of DNM1L (PubMed:28463107).',NULL,NULL,NULL,NULL,NULL),(9095,'UniProt Function',NULL,10934,NULL,'Probable redox-inactive chaperone involved in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(9096,'UniProt Function',NULL,10935,NULL,'Required for synthesis of pyridoxal-5-phosphate from vitamin B6.',NULL,NULL,NULL,NULL,NULL),(9097,'UniProt Function',NULL,10936,NULL,'Participates in chain elongation of fatty acids. Has no 2,4-dienoyl-CoA reductase activity.',NULL,NULL,NULL,NULL,NULL),(9098,'UniProt Function',NULL,10937,NULL,'Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.',NULL,NULL,NULL,NULL,NULL),(9099,'UniProt Function',NULL,10939,NULL,'Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidylmonomethylethanolamine (PMME), PMME to phosphatidyldimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC).',NULL,NULL,NULL,NULL,NULL),(9100,'UniProt Function',NULL,10940,NULL,'Probably catalyzes the removal of unsubstituted N-terminal amino acids from various peptides.',NULL,NULL,NULL,NULL,NULL),(9101,'UniProt Function',NULL,10941,NULL,'Mitochondrial sodium/calcium antiporter that mediates sodium-dependent calcium efflux from mitochondrion, by mediating the exchange of 3 sodium ions per 1 calcium ion (PubMed:20018762, PubMed:22829870, PubMed:23056385, PubMed:24898248, PubMed:28219928). Plays a central role in mitochondrial calcium homeostasis by mediating mitochondrial calcium extrusion: calcium efflux is essential for mitochondrial function and cell survival, notably in cardiomyocytes (By similarity). Regulates rates of glucose-dependent insulin secretion in pancreatic beta-cells during the first phase of insulin secretion: acts by mediating efflux of calcium from mitochondrion, thereby affecting cytoplasmic calcium responses (PubMed:23056385). Required for store-operated Ca(2+) entry (SOCE) and Ca(2+) release-activated Ca(2+) (CRAC) channel regulation: sodium transport by SLC8B1 leads to promote calcium-shuttling that modulates mitochondrial redox status, thereby regulating SOCE activity (PubMed:28219928). Involved in B-lymphocyte chemotaxis (By similarity). Able to transport Ca(2+) in exchange of either Li(+) or Na(+), explaining how Li(+) catalyzes Ca(2+) exchange (PubMed:15060069). In contrast to other members of the family its function is independent of K(+) (PubMed:15060069).',NULL,NULL,NULL,NULL,NULL),(9102,'UniProt Function',NULL,10944,NULL,'Regulates microtubule organization and stabilization. Promotes microtubule growth and bundling formation and stabilizes microtubules by increasing intense acetylation of microtubules (PubMed:26482847, PubMed:26485573). Both tubulin-binding and homodimer formation are required for NCKAP5L-mediated microtubule bundle formation (PubMed:26485573).',NULL,NULL,NULL,NULL,NULL),(9103,'UniProt Function',NULL,10945,NULL,'Nuclear receptor coregulator that can have both coactivator and corepressor functions. Interacts with nuclear receptors for steroids (ESR1 and ESR2) independently of the steroid binding domain (AF-2) of the ESR receptors, and with the orphan nuclear receptor NR1D2. Involved in the coactivation of nuclear steroid receptors (ER) as well as the corepression of MYC in response to 17-beta-estradiol (E2).',NULL,NULL,NULL,NULL,NULL),(9104,'UniProt Function',NULL,10946,NULL,'Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Possesses nucleoside-diphosphate kinase, serine/threonine-specific protein kinase, geranyl and farnesyl pyrophosphate kinase, histidine protein kinase and 3\'-5\' exonuclease activities. Involved in cell proliferation, differentiation and development, signal transduction, G protein-coupled receptor endocytosis, and gene expression. Required for neural development including neural patterning and cell fate determination. During GZMA-mediated cell death, works in concert with TREX1. NME1 nicks one strand of DNA and TREX1 removes bases from the free 3\' end to enhance DNA damage and prevent DNA end reannealing and rapid repair.',NULL,NULL,NULL,NULL,NULL),(9105,'UniProt Function',NULL,10947,NULL,'Contributes to the maintenance of intracerebral BDNF levels within the normal range, which is necessary for the preservation of spatial learning and the resistance to neuronal cell death caused by ischemic stress (By similarity). May enhance growth factor-induced ERK1 and ERK2 phosphorylation, including that induced by PDGF and FGF. May attenuate NGF-promoted ELK1 phosphorylation in a microtubule-dependent manner.',NULL,NULL,NULL,NULL,NULL),(9106,'UniProt Function',NULL,10948,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(9107,'UniProt Function',NULL,10949,NULL,'Cytochrome c oxidase (COX, complex IV) is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. Required for complex IV maintenance.',NULL,NULL,NULL,NULL,NULL),(9108,'UniProt Function',NULL,10950,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(9109,'UniProt Function',NULL,10951,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(9110,'UniProt Function',NULL,10952,NULL,'Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Has low deacetylase activity but high sulfotransferase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(9111,'UniProt Function',NULL,10953,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(9112,'UniProt Function',NULL,10954,NULL,'This protein is associated with nerve growth. It is a major component of the motile \"growth cones\" that form the tips of elongating axons. Plays a role in axonal and dendritic filopodia induction.',NULL,NULL,NULL,NULL,NULL),(9113,'UniProt Function',NULL,10955,NULL,'Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1).',NULL,NULL,NULL,NULL,NULL),(9114,'UniProt Function',NULL,10956,NULL,'Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids (PubMed:15283675, PubMed:8168535). Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond (PubMed:17101991). Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9 (PubMed:15283675). Involved in the degradation of atrial natriuretic factor (ANF) (PubMed:2531377, PubMed:2972276). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers (PubMed:20876573).',NULL,NULL,NULL,NULL,NULL),(9115,'UniProt Function',NULL,10957,NULL,'Plays a role in hippocampal-dependent synaptic plasticity, learning and memory. Involved in the formation of spines and functional synaptic contacts by modulating the translational activity of the cytoplasmic polyadenylation element-binding protein CPEB3. Promotes ubiquitination of CPEB3, and hence induces CPEB3-dependent mRNA translation activation of glutamate receptor GRIA1 and GRIA2. Can function as an E3 ubiquitin-protein ligase to activate monoubiquitination of JAG1 (in vitro), thereby regulating the Notch pathway. Acts as a tumor suppressor; inhibits malignant cell transformation of medulloblastoma (MB) cells by inhibiting the Notch signaling pathway.',NULL,NULL,NULL,NULL,NULL),(9116,'UniProt Function',NULL,10958,NULL,'Inhibitory regulator of the Ras-cyclic AMP pathway.',NULL,NULL,NULL,NULL,NULL),(9117,'UniProt Function',NULL,10959,NULL,'With DHDDS, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) (PubMed:21572394, PubMed:25066056, PubMed:28842490). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol. Acts as a specific receptor for the N-terminus of Nogo-B, a neural and cardiovascular regulator (PubMed:16835300).',NULL,NULL,NULL,NULL,NULL),(9118,'UniProt Function',NULL,10960,NULL,'Involved in oxygen transport in the brain. Hexacoordinate globin, displaying competitive binding of oxygen or the distal His residue to the iron atom. Not capable of penetrating cell membranes. The deoxygenated form exhibits nitrite reductase activity inhibiting cellular respiration via NO-binding to cytochrome c oxidase. Involved in neuroprotection during oxidative stress. May exert its anti-apoptotic activity by acting to reset the trigger level of mitochondrial cytochrome c release necessary to commit the cells to apoptosis.',NULL,NULL,NULL,NULL,NULL),(9119,'UniProt Function',NULL,10961,NULL,'This is a receptor for the tachykinin neuropeptide neuromedin-K (neurokinin B). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: neuromedin-K > substance K > substance P.',NULL,NULL,NULL,NULL,NULL),(9120,'UniProt Function',NULL,10962,NULL,'Apoptosis-inducing protein that modulates the tumor suppressor function of CDKN2A/p14ARF. Enhances the stability of CDKN2A/p14ARF protein by protecting it from degradation. May act as a tumor suppressor (PubMed:22094112).',NULL,NULL,NULL,NULL,NULL),(9121,'UniProt Function',NULL,10963,NULL,'Catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post-transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Doesn\'t need a cofactor for polyadenylation activity (in vitro) (PubMed:21788334, PubMed:21855801). Required for cytoplasmic polyadenylation of mRNAs involved in carbohydrate metabolism, including the glucose transporter SLC2A1/GLUT1 (PubMed:28383716). Plays a role in replication-dependent histone mRNA degradation, probably through terminal uridylation of mature histone mRNAs. May play a role in sister chromatid cohesion (PubMed:18172165). Mediates 3\' adenylation of the microRNA MIR21 followed by its 3\'-to-5\' trimming by the exoribonuclease PARN leading to degradation (PubMed:25049417). Mediates 3\' adenylation of H/ACA box snoRNAs (small nucleolar RNAs) followed by its 3\'-to-5\' trimming by the exoribonuclease PARN which enhances snoRNA stability and maturation (PubMed:22442037).',NULL,NULL,NULL,NULL,NULL),(9122,'UniProt Function',NULL,10964,NULL,'Structural component of the gap junctions and the hemichannels.',NULL,NULL,NULL,NULL,NULL),(9123,'UniProt Function',NULL,10965,NULL,'Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism (PubMed:25855295, PubMed:12802337). Required for normal glucose and fat homeostasis and for maintaining a normal body weight. ADIPOQ-binding activates a signaling cascade that leads to increased AMPK activity, and ultimately to increased fatty acid oxidation, increased glucose uptake and decreased gluconeogenesis. Has high affinity for globular adiponectin and low affinity for full-length adiponectin (By similarity).',NULL,NULL,NULL,NULL,NULL),(9124,'UniProt Function',NULL,10967,NULL,'Potential calcium-dependent cell-adhesion protein.',NULL,NULL,NULL,NULL,NULL),(9125,'UniProt Function',NULL,10968,NULL,'Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. Major cellular poly(rC)-binding protein. Binds also poly(rU). Negatively regulates cellular antiviral responses mediated by MAVS signaling (PubMed:19881509). It acts as an adapter between MAVS and the E3 ubiquitin ligase ITCH, therefore triggering MAVS ubiquitination and degradation (PubMed:19881509).',NULL,NULL,NULL,NULL,NULL),(9126,'UniProt Function',NULL,10968,NULL,'(Microbial infection) In case of infection by poliovirus, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:12414943, PubMed:24371074). Also plays a role in initiation of viral RNA replication in concert with the viral protein 3CD (PubMed:12414943).',NULL,NULL,NULL,NULL,NULL),(9127,'UniProt Function',NULL,10969,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9128,'UniProt Function',NULL,10970,NULL,'Single-stranded nucleic acid binding protein that binds preferentially to oligo dC.',NULL,NULL,NULL,NULL,NULL),(9129,'UniProt Function',NULL,10971,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9130,'UniProt Function',NULL,10972,NULL,'Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.',NULL,NULL,NULL,NULL,NULL),(9131,'UniProt Function',NULL,10973,NULL,'Transcriptional activator that binds the sequence 5\'-ATCAATCAA-3\'.',NULL,NULL,NULL,NULL,NULL),(9132,'UniProt Function',NULL,10975,NULL,'May act as a scaffolding protein involved in the organization of synaptic active zones and in synaptic vesicle trafficking.',NULL,NULL,NULL,NULL,NULL),(9133,'UniProt Function',NULL,10976,NULL,'May function as a cell-type specific modulator for G protein-mediated cell signaling.',NULL,NULL,NULL,NULL,NULL),(9134,'UniProt Function',NULL,10977,NULL,'Involved in the degradation of prenylated proteins. Cleaves the thioether bond of prenyl-L-cysteines, such as farnesylcysteine and geranylgeranylcysteine.',NULL,NULL,NULL,NULL,NULL),(9135,'UniProt Function',NULL,10978,NULL,'Controls phosphatidylcholine synthesis.',NULL,NULL,NULL,NULL,NULL),(9136,'UniProt Function',NULL,10979,NULL,'Plays an important role in the biosynthesis of the phospholipid phosphatidylethanolamine. Catalyzes the formation of CDP-ethanolamine.',NULL,NULL,NULL,NULL,NULL),(9137,'UniProt Function',NULL,10980,NULL,'Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in the control of cAMP-mediated neural activity and cAMP metabolism in the brain.',NULL,NULL,NULL,NULL,NULL),(9138,'UniProt Function',NULL,10981,NULL,'Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a preference for cGMP as a substrate.',NULL,NULL,NULL,NULL,NULL),(9139,'UniProt Function',NULL,10982,NULL,'Acts as an intracellular estrogen-binding protein. May be involved in modulating cellular levels and biological functions of estrogens in the pancreas. May act as a chaperone that inhibits aggregation of misfolded proteins.',NULL,NULL,NULL,NULL,NULL),(9140,'UniProt Function',NULL,10983,NULL,'Inhibits translation initiation and cap-dependent translation. May excert its function by hindering the interaction between EIF4A1 and EIF4G. Inhibits the helicase activity of EIF4A. Modulates the activation of JUN kinase. Down-regulates the expression of MAP4K1, thus inhibiting events important in driving invasion, namely, MAPK85 activation and consequent JUN-dependent transcription. May play a role in apoptosis. Tumor suppressor. Inhibits tumor promoter-induced neoplastic transformation. Binds RNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(9141,'UniProt Function',NULL,10985,NULL,'May play a role in germ cell maturation.',NULL,NULL,NULL,NULL,NULL),(9142,'UniProt Function',NULL,10986,NULL,'Bactericidal C-type lectin which acts exclusively against Gram-positive bacteria and mediates bacterial killing by binding to surface-exposed carbohydrate moieties of peptidoglycan. Restricts bacterial colonization of the intestinal epithelial surface and consequently limits activation of adaptive immune responses by the microbiota. The uncleaved form has bacteriostatic activity, whereas the cleaved form has bactericidal activity against L.monocytogenes and methicillin-resistant S.aureus. Regulates keratinocyte proliferation and differentiation after skin injury.',NULL,NULL,NULL,NULL,NULL),(9143,'UniProt Function',NULL,10987,NULL,'Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain termination codons UAA and UAG.',NULL,NULL,NULL,NULL,NULL),(9144,'UniProt Function',NULL,10988,NULL,'As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism (PubMed:27723720, PubMed:27723717). Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage (PubMed:9430682). In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP activates the ATR kinase a master regulator of the DNA damage response (PubMed:24332808). It is required for the recruitment of the DNA double-strand break repair factors RAD51 and RAD52 to chromatin in response to DNA damage (PubMed:17765923). Also recruits to sites of DNA damage proteins like XPA and XPG that are involved in nucleotide excision repair and is required for this mechanism of DNA repair (PubMed:7697716). Plays also a role in base excision repair (BER) probably through interaction with UNG (PubMed:9765279). Also recruits SMARCAL1/HARP, which is involved in replication fork restart, to sites of DNA damage. May also play a role in telomere maintenance (PubMed:17959650). As part of the alternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared to the RPA2-containing, canonical RPA complex, may not support chromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNA polymerase alpha but could support DNA synthesis by polymerase delta in presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange (PubMed:19996105).',NULL,NULL,NULL,NULL,NULL),(9145,'UniProt Function',NULL,10990,NULL,'Part of the RFX complex that binds to the X-box of MHC II promoters.',NULL,NULL,NULL,NULL,NULL),(9146,'UniProt Function',NULL,10993,NULL,'Promotes the exchange of Ras-bound GDP by GTP.',NULL,NULL,NULL,NULL,NULL),(9147,'UniProt Function',NULL,10994,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.',NULL,NULL,NULL,NULL,NULL),(9148,'UniProt Function',NULL,10996,NULL,'May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.',NULL,NULL,NULL,NULL,NULL),(9149,'UniProt Function',NULL,10997,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.',NULL,NULL,NULL,NULL,NULL),(9150,'UniProt Function',NULL,10998,NULL,'Rho GTPase-activating protein which may be involved in clathrin-mediated endocytosis. GTPase activators for the Rho-type GTPases act by converting them to an inactive GDP-bound state. Has activity toward CDC42 and RAC1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(9151,'UniProt Function',NULL,10999,NULL,'Functions as an electroneutral and bidirectional ammonium transporter. May regulate transepithelial ammonia secretion.',NULL,NULL,NULL,NULL,NULL),(9152,'UniProt Function',NULL,11000,NULL,'Catalyzes the synthesis of beta-citryl-L-glutamate and N-acetyl-L-aspartyl-L-glutamate. Beta-citryl-L-glutamate is synthesized more efficiently than N-acetyl-L-aspartyl-L-glutamate.',NULL,NULL,NULL,NULL,NULL),(9153,'UniProt Function',NULL,11001,NULL,'Plays a role in endocytosis and intracellular protein transport. Mediates trafficking of TF from early endosomes to recycling endosomes (PubMed:16537905). Required for NGF-mediated endocytosis of NTRK1, and subsequent neurite outgrowth (PubMed:21849477). Binds GTP and GDP and has low GTPase activity. Alternates between a GTP-bound active form and a GDP-bound inactive form (PubMed:16537905).',NULL,NULL,NULL,NULL,NULL),(9154,'UniProt Function',NULL,11002,NULL,'Adipocyte-secreted protein (adipokine) that regulates adipogenesis, metabolism and inflammation through activation of the chemokine-like receptor 1 (CMKLR1). Its other ligands include G protein-coupled receptor 1 (GPR1) and chemokine receptor-like 2 (CCRL2). Positively regulates adipocyte differentiation, modulates the expression of adipocyte genes involved in lipid and glucose metabolism and might play a role in angiogenesis, a process essential for the expansion of white adipose tissue. Also acts as a proinflammatory adipokine, causing an increase in secretion of proinflammatory and prodiabetic adipokines, which further impair adipose tissue metabolic function and have negative systemic effects including impaired insulin sensitivity, altered glucose and lipid metabolism, and a decrease in vascular function in other tissues. Can have both pro- and anti-inflammatory properties depending on the modality of enzymatic cleavage by different classes of proteases. Acts as a chemotactic factor for leukocyte populations expressing CMKLR1, particularly immature plasmacytoid dendritic cells, but also immature myeloid DCs, macrophages and natural killer cells. Exerts an anti-inflammatory role by preventing TNF/TNFA-induced VCAM1 expression and monocytes adhesion in vascular endothelial cells. The effect is mediated via inhibiting activation of NF-kappa-B and CRK/p38 through stimulation of AKT1/NOS3 signaling and nitric oxide production. Its dual role in inflammation and metabolism might provide a link between chronic inflammation and obesity, as well as obesity-related disorders such as type 2 diabetes and cardiovascular disease. Exhibits an antimicrobial function in the skin.',NULL,NULL,NULL,NULL,NULL),(9155,'UniProt Function',NULL,11003,NULL,'The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab regulates endocytic recycling. Acts as a major regulator of membrane delivery during cytokinesis. Together with MYO5B and RAB8A participates in epithelial cell polarization. Together with RAB3IP, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis. Together with MYO5B participates in CFTR trafficking to the plasma membrane and TF (Transferrin) recycling in nonpolarized cells. Required in a complex with MYO5B and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Participates in the sorting and basolateral transport of CDH1 from the Golgi apparatus to the plasma membrane. Regulates the recycling of FCGRT (receptor of Fc region of monomeric Ig G) to basolateral membranes. May also play a role in melanosome transport and release from melanocytes.',NULL,NULL,NULL,NULL,NULL),(9156,'UniProt Function',NULL,11004,NULL,'Plays an important role in regulating embryonic neurogenesis.',NULL,NULL,NULL,NULL,NULL),(9157,'UniProt Function',NULL,11005,NULL,'May play a role in the transformation process due to its capacity to confer resistance to the growth-inhibitory effects of TGF-beta1 through interaction with retinoblastoma and the subsequent displacement of E2F-1.',NULL,NULL,NULL,NULL,NULL),(9158,'UniProt Function',NULL,11006,NULL,'Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol.',NULL,NULL,NULL,NULL,NULL),(9159,'UniProt Function',NULL,11007,NULL,'Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3\'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity).',NULL,NULL,NULL,NULL,NULL),(9160,'UniProt Function',NULL,11008,NULL,'Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes.',NULL,NULL,NULL,NULL,NULL),(9161,'UniProt Function',NULL,11009,NULL,'Induces activation of MAPK14/p38 cascade, when overexpressed (PubMed:28688764). Induces apoptosis, when overexpressed (PubMed:19969290).',NULL,NULL,NULL,NULL,NULL),(9162,'UniProt Function',NULL,11010,NULL,'Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of exon-exon junctions. In vitro, stimulates translation; the function is independent of association with UPF2 and components of the EJC core.',NULL,NULL,NULL,NULL,NULL),(9163,'UniProt Function',NULL,11011,NULL,'Member of the repulsive guidance molecule (RGM) family that performs several functions in the developing and adult nervous system. Regulates cephalic neural tube closure, inhibits neurite outgrowth and cortical neuron branching, and the formation of mature synapses. Binding to its receptor NEO1/neogenin induces activation of RHOA-ROCK1/Rho-kinase signaling pathway through UNC5B-ARHGEF12/LARG-PTK2/FAK1 cascade, leading to collapse of the neuronal growth cone and neurite outgrowth inhibition. Furthermore, RGMA binding to NEO1/neogenin leads to HRAS inactivation by influencing HRAS-PTK2/FAK1-AKT1 pathway. It also functions as a bone morphogenetic protein (BMP) coreceptor that may signal through SMAD1, SMAD5, and SMAD8.',NULL,NULL,NULL,NULL,NULL),(9164,'UniProt Function',NULL,11012,NULL,'E3 ubiquitin-protein ligase required for the repair of DNA interstrand cross-links (ICL) in response to DNA damage (PubMed:21504906, PubMed:21558276, PubMed:26474068, PubMed:28575657, PubMed:28575658). Plays a key role in RPA-mediated DNA damage signaling and repair (PubMed:21504906, PubMed:21558276, PubMed:26474068, PubMed:28575657, PubMed:28575658, PubMed:28691929). Acts by mediating ubiquitination of the RPA complex (RPA1, RPA2 and RPA3 subunits) and RAD51 at stalled replication forks, leading to remove them from DNA damage sites and promote homologous recombination (PubMed:26474068, PubMed:28575657, PubMed:28575658). Also mediates the ubiquitination of p53/TP53 in the late response to DNA damage, and acts as a positive regulator of p53/TP53 stability, thereby regulating the G1/S DNA damage checkpoint (PubMed:20173098). May act by catalyzing the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome (PubMed:20173098). In response to ionizing radiation, interacts with MDM2 and enhances p53/TP53 ubiquitination, possibly by restricting MDM2 from extending polyubiquitin chains on ubiquitinated p53/TP53 (PubMed:20173098).',NULL,NULL,NULL,NULL,NULL),(9165,'UniProt Function',NULL,11013,NULL,'Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Required for proper attachment of the midbody to the cell membrane during cytokinesis. Plays key roles in controlling cell growth and differentiation of hematopoietic cells through mechanisms other than regulating Rac GTPase activity. Also involved in the regulation of growth-related processes in adipocytes and myoblasts. May be involved in regulating spermatogenesis and in the RACGAP1 pathway in neuronal proliferation. Shows strong GAP (GTPase activation) activity towards CDC42 and RAC1 and less towards RHOA. Essential for the early stages of embryogenesis. May play a role in regulating cortical activity through RHOA during cytokinesis. May participate in the regulation of sulfate transport in male germ cells.',NULL,NULL,NULL,NULL,NULL),(9166,'UniProt Function',NULL,11014,NULL,'Serine/threonine/tyrosine kinase that plays an essential role in modulation of innate and adaptive immune responses. Upon stimulation by bacterial peptidoglycans, NOD1 and NOD2 are activated, oligomerize and recruit RIPK2 through CARD-CARD domains. Contributes to the tyrosine phosphorylation of the guanine exchange factor ARHGEF2 through Src tyrosine kinase leading to NF-kappaB activation by NOD2. Once recruited, RIPK2 autophosphorylates and undergoes \'Lys-63\'-linked polyubiquitination by E3 ubiquitin ligases XIAP, BIRC2 and BIRC3. The polyubiquitinated protein mediates the recruitment of MAP3K7/TAK1 to IKBKG/NEMO and induces \'Lys-63\'-linked polyubiquitination of IKBKG/NEMO and subsequent activation of IKBKB/IKKB. In turn, NF-kappa-B is released from NF-kappa-B inhibitors and translocates into the nucleus where it activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. Plays also a role during engagement of the T-cell receptor (TCR) in promoting BCL10 phosphorylation and subsequent NF-kappa-B activation.',NULL,NULL,NULL,NULL,NULL),(9167,'UniProt Function',NULL,11015,NULL,'Plays a crucial role in coupling NGF stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF-dependent neuronal differentiation. Involved in ELK1 transactivation through the Ras-MAPK signaling cascade that mediates a wide variety of cellular functions, including cell proliferation, survival, and differentiation.',NULL,NULL,NULL,NULL,NULL),(9168,'UniProt Function',NULL,11016,NULL,'Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3\'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts.',NULL,NULL,NULL,NULL,NULL),(9169,'UniProt Function',NULL,11018,NULL,'Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration.',NULL,NULL,NULL,NULL,NULL),(9170,'UniProt Function',NULL,11019,NULL,'Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:28781166). Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species (Probable). Required for normal mitotic cell cycle progression (PubMed:22351768, PubMed:24252166). Recruits MAD1L1 and MAD2L1 to kinetochores, and is required to trigger the spindle assembly checkpoint (PubMed:22351768). Required for normal accumulation of SMU1 (PubMed:24945353).',NULL,NULL,NULL,NULL,NULL),(9171,'UniProt Function',NULL,11019,NULL,'(Microbial infection) Required, together with SMU1, for normal splicing of influenza A virus NS1 pre-mRNA, which is required for the production of the exportin NS2 and for the production of influenza A virus particles. Not required for the production of VSV virus particles.',NULL,NULL,NULL,NULL,NULL),(9172,'UniProt Function',NULL,11020,NULL,'Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes.',NULL,NULL,NULL,NULL,NULL),(9173,'UniProt Function',NULL,11021,NULL,'Catalyzes the saturation of all-trans-retinol to all-trans-13,14-dihydroretinol. Does not exhibit any activity toward all-trans-retinoic acid, nor 9-cis, 11-cis or 13-cis-retinol isomers. May play a role in the metabolism of vitamin A. Independently of retinol conversion, may regulate liver metabolism upstream of MLXIPL/ChREBP. May play a role in adipocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(9174,'UniProt Function',NULL,11022,NULL,'RNA-binding protein that regulates alternative splicing events by binding to 5\'-UGCAUGU-3\' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis.',NULL,NULL,NULL,NULL,NULL),(9175,'UniProt Function',NULL,11023,NULL,'E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Mediates \'Lys-48\'-linked polyubiquitination of PRR5L and its subsequent proteasomal degradation thereby indirectly regulating cell migration through the mTORC2 complex. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis. Negatively regulates the tumor necrosis factor-mediated signaling pathway through targeting of RIPK1 to ubiquitin-mediated proteasomal degradation. Negatively regulates p53/TP53 through its direct ubiquitination and targeting to proteasomal degradation. Indirectly, may also negatively regulate p53/TP53 through ubiquitination and degradation of SFN. May also play a role in endocytic recycling.',NULL,NULL,NULL,NULL,NULL),(9176,'UniProt Function',NULL,11024,NULL,'Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:10521509, PubMed:10862767). The RGS7/GNB5 dimer enhances GNAO1 GTPase activity (PubMed:10521509). May play a role in synaptic vesicle exocytosis (PubMed:12659861). Modulates the activity of potassium channels that are activated by GNAO1 in response to muscarinic acetylcholine receptor M2/CHRM2 signaling (PubMed:15897264).',NULL,NULL,NULL,NULL,NULL),(9177,'UniProt Function',NULL,11025,NULL,'Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an \'address tag\' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. In case of infection by HCMV (human cytomegalovirus), may participate in egress of the virus out of nucleus; this function is independent of ARF6.',NULL,NULL,NULL,NULL,NULL),(9178,'UniProt Function',NULL,11026,NULL,'Regulatory factor essential for MHC class II genes expression. Binds to the X boxes of MHC class II genes. Also binds to an inverted repeat (ENH1) required for hepatitis B virus genes expression and to the most upstream element (alpha) of the RPL30 promoter.',NULL,NULL,NULL,NULL,NULL),(9179,'UniProt Function',NULL,11027,NULL,'Seems to be implicated in the pathway from retinal rod guanylate cyclase to rhodopsin. May be involved in the inhibition of the phosphorylation of rhodopsin in a calcium-dependent manner. The calcium-bound recoverin prolongs the photoresponse.',NULL,NULL,NULL,NULL,NULL),(9180,'UniProt Function',NULL,11028,NULL,'Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3\'-5\' exonuclease activity and thus has no proofreading function.',NULL,NULL,NULL,NULL,NULL),(9181,'UniProt Function',NULL,11030,NULL,'Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in actin cytoskeleton formation in developing cartilaginous cells.',NULL,NULL,NULL,NULL,NULL),(9182,'UniProt Function',NULL,11031,NULL,'The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit may be involved in the elongation of the multiprimed DNA template.',NULL,NULL,NULL,NULL,NULL),(9183,'UniProt Function',NULL,11032,NULL,'The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation as well as DNA replication and/or repair. Can bind single- or double-stranded DNA.',NULL,NULL,NULL,NULL,NULL),(9184,'UniProt Function',NULL,11032,NULL,'Interacts with C-terminus of PCNA. 5\' phosphate residue is required for binding of the N-terminal DNA-binding domain to duplex DNA, suggesting a role in recognition of non-primer template DNA structures during replication and/or repair.',NULL,NULL,NULL,NULL,NULL),(9185,'UniProt Function',NULL,11033,NULL,'Upon bacterial lipopolysaccharide stimulation, mediates clathrin-dependent internalization of TLR4 in dendritic cells, resulting in activation of TICAM1-mediated signaling and subsequent IFNB1 production. May regulate B-cell antigen receptor-mediated signaling.',NULL,NULL,NULL,NULL,NULL),(9186,'UniProt Function',NULL,11035,NULL,'Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization. May also be involved in the stimulation of transcription in a Ras-independent fashion (By similarity).',NULL,NULL,NULL,NULL,NULL),(9187,'UniProt Function',NULL,11036,NULL,'Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form.',NULL,NULL,NULL,NULL,NULL),(9188,'UniProt Function',NULL,11037,NULL,'Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:11602604, PubMed:18434541). Plays an important role in the phototransduction cascade by regulating the lifetime and effective concentration of activated transducin alpha. May regulate extra and intracellular mitogenic signals (By similarity).',NULL,NULL,NULL,NULL,NULL),(9189,'UniProt Function',NULL,11039,NULL,'Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase activator for the CDC42 GTPase by converting it to an inactive GDP-bound state. The complex formed with AMOT acts by regulating the uptake of polarity proteins at tight junctions, possibly by deciding whether tight junction transmembrane proteins are recycled back to the plasma membrane or sent elsewhere. Participates in the Ca(2+)-dependent regulation of exocytosis, possibly by catalyzing GTPase activity of Rho family proteins and by inducing the reorganization of the cortical actin filaments. Acts as a GTPase activator in vitro for RAC1.',NULL,NULL,NULL,NULL,NULL),(9190,'UniProt Function',NULL,11040,NULL,'Rho GTPase activating protein that suppresses F-actin polymerization by inhibiting Rho. Rho GTPase activating proteins act by converting Rho-type GTPases to an inactive GDP-bound state (PubMed:21865595). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts downstream of YAP1 and inhibits actin polymerization, which in turn reduces nuclear localization of YAP1 (PubMed:25778702). Regulates cell shape, spreading, and migration (PubMed:21865595).',NULL,NULL,NULL,NULL,NULL),(9191,'UniProt Function',NULL,11041,NULL,'Functions as a specific ammonium transporter.',NULL,NULL,NULL,NULL,NULL),(9192,'UniProt Function',NULL,11042,NULL,'GTPase-activating protein for RHOA and CDC42.',NULL,NULL,NULL,NULL,NULL),(9193,'UniProt Function',NULL,11043,NULL,'Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration.',NULL,NULL,NULL,NULL,NULL),(9194,'UniProt Function',NULL,11044,NULL,'GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(9195,'UniProt Function',NULL,11046,NULL,'DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3\'-5\' direction.',NULL,NULL,NULL,NULL,NULL),(9196,'UniProt Function',NULL,11047,NULL,'Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non-cognate termination stop codons AGG and AGA.',NULL,NULL,NULL,NULL,NULL),(9197,'UniProt Function',NULL,11049,NULL,'Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters.',NULL,NULL,NULL,NULL,NULL),(9198,'UniProt Function',NULL,11050,NULL,'Modulates the activity of cell cycle-specific kinases. Enhances CDK1 activity. May contribute to the regulation of the cell cycle. May inhibit growth of glioma cells by promoting arrest of mitotic progression at the G2/M transition. Fibrogenic factor contributing to the pathogenesis of renal fibrosis through fibroblast activation.',NULL,NULL,NULL,NULL,NULL),(9199,'UniProt Function',NULL,11051,NULL,'Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration.',NULL,NULL,NULL,NULL,NULL),(9200,'UniProt Function',NULL,11052,NULL,'Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i) alpha-1, G(i) alpha-2, G(i) alpha-3 and G(q) alpha.',NULL,NULL,NULL,NULL,NULL),(9201,'UniProt Function',NULL,11053,NULL,'Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G-alpha subfamily 1 members, with the order G(i)a3 > G(i)a1 > G(o)a >> G(z)a/G(i)a2. Activity on G(z)-alpha is inhibited by phosphorylation and palmitoylation of the G-protein.',NULL,NULL,NULL,NULL,NULL),(9202,'UniProt Function',NULL,11054,NULL,'Guanine nucleotide exchange factor (GEF) for the small GTPase RALA. May be involved in cytoskeletal organization (By similarity). Guanine nucleotide exchange factor for.',NULL,NULL,NULL,NULL,NULL),(9203,'UniProt Function',NULL,11055,NULL,'Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds selectively to G(z)-alpha and G(alpha)-i2 subunits, accelerates their GTPase activity and regulates their signaling activities. The G(z)-alpha activity is inhibited by the phosphorylation and palmitoylation of the G-protein. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9204,'UniProt Function',NULL,11056,NULL,'Down-regulates signaling from heterotrimeric G-proteins by increasing the GTPase activity of the alpha subunits, thereby driving them into their inactive GDP-bound form. Down-regulates G-protein-mediated release of inositol phosphates and activation of MAP kinases.',NULL,NULL,NULL,NULL,NULL),(9205,'UniProt Function',NULL,11057,NULL,'Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Known substrate: EFNB3.',NULL,NULL,NULL,NULL,NULL),(9206,'UniProt Function',NULL,11058,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.',NULL,NULL,NULL,NULL,NULL),(9207,'UniProt Function',NULL,11059,NULL,'Activates the protein kinase activity of mTORC1, and thereby plays a role in the regulation of apoptosis. Stimulates the phosphorylation of S6K1 and EIF4EBP1 through activation of mTORC1 signaling. Has low intrinsic GTPase activity.',NULL,NULL,NULL,NULL,NULL),(9208,'UniProt Function',NULL,11061,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector of RAP2A to regulate Rho. In concert with RASIP1, suppresses RhoA signaling and dampens ROCK and MYH9 activities in endothelial cells and plays an essential role in blood vessel tubulogenesis.',NULL,NULL,NULL,NULL,NULL),(9209,'UniProt Function',NULL,11062,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has a substantial GAP activity toward CDC42 and RAC1 and less toward RHOA. Has a role in regulating adhesion of hematopoietic cells to the extracellular matrix. Binds phosphoinositides, and has the highest affinity for phosphatidylinositol 3,4,5-trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate.',NULL,NULL,NULL,NULL,NULL),(9210,'UniProt Function',NULL,11063,NULL,'GTPase activator for the small GTPases RhoA and Cdc42 by converting them to an inactive GDP-bound state. Essential for PTKB2 regulation of cytoskeletal organization via Rho family GTPases. Inhibits PAK2 proteolytic fragment PAK-2p34 kinase activity and changes its localization from the nucleus to the perinuclear region. Stabilizes PAK-2p34 thereby increasing stimulation of cell death (By similarity).',NULL,NULL,NULL,NULL,NULL),(9211,'UniProt Function',NULL,11064,NULL,'Rho GTPase-activating protein (GAP) (PubMed:19673492, PubMed:28894085). Binds several acidic phospholipids which inhibits the Rho GAP activity to promote the Rac GAP activity (PubMed:19673492). This binding is inhibited by phosphorylation by PRKCA (PubMed:19673492). Involved in cell differentiation as well as cell adhesion and migration, plays an important role in retinal tissue morphogenesis, neural tube fusion, midline fusion of the cerebral hemispheres and mammary gland branching morphogenesis (By similarity). Transduces signals from p21-ras to the nucleus, acting via the ras GTPase-activating protein (GAP) (By similarity). Transduces SRC-dependent signals from cell-surface adhesion molecules, such as laminin, to promote neurite outgrowth. Regulates axon outgrowth, guidance and fasciculation (By similarity). Modulates Rho GTPase-dependent F-actin polymerization, organization and assembly, is involved in polarized cell migration and in the positive regulation of ciliogenesis and cilia elongation (By similarity). During mammary gland development, is required in both the epithelial and stromal compartments for ductal outgrowth (By similarity). Represses transcription of the glucocorticoid receptor by binding to the cis-acting regulatory sequence 5\'-GAGAAAAGAAACTGGAGAAACTC-3\'; this function is however unclear and would need additional experimental evidences (PubMed:1894621).',NULL,NULL,NULL,NULL,NULL),(9212,'UniProt Function',NULL,11065,NULL,'Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Regulates apical junction formation in bronchial epithelial cells.',NULL,NULL,NULL,NULL,NULL),(9213,'UniProt Function',NULL,11066,NULL,'Involved in endosome dynamics. May coordinate membrane transport with the function of the cytoskeleton. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Participates in the reorganization of actin cytoskeleton; the function seems to involve WHAMM and includes regulation of filopodia formation and actin filament bundling. Can modulate the effect of DAPK3 in reorganization of actin cytoskeleton and focal adhesion dissolution.',NULL,NULL,NULL,NULL,NULL),(9214,'UniProt Function',NULL,11067,NULL,'Negative regulator of hematopoietic progenitor cell proliferation, survival and migration. Critical regulator of thymocyte development and T-cell antigen receptor (TCR) signaling by mediating recruitment and activation of ZAP70. Required for phosphorylation of CD3Z, membrane translocation of ZAP70 and subsequent activation of the ZAP70-mediated pathways. Essential for efficient beta-selection and positive selection by promoting the ZAP70-dependent phosphorylation of the LAT signalosome during pre-TCR and TCR signaling. Crucial for thymocyte maturation during DN3 to DN4 transition and during positive selection. Plays critical roles in mast cell function by facilitating phosphorylation of SYK in Fc epsilon RI-mediated signal transduction. Essential for the phosphorylation of LAT, LCP2, PLCG1 and PLCG2 and for Ca(2+) mobilization in mast cells (By similarity). Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins. Inhibits the activation of NF-kappa-B by TNF and IKKB and the activation of CRK/p38 by TNF. Inhibits activities of RAC1, RHOA and CDC42. Negatively regulates leukotriene production in neutrophils.',NULL,NULL,NULL,NULL,NULL),(9215,'UniProt Function',NULL,11068,NULL,'Plasma membrane-associated small GTPase specifically involved in angiogenesis (PubMed:21628409, PubMed:24434213, PubMed:30158707). Required for endothelial cell migration during vascular development via its interaction with GLUL (PubMed:30158707). Elicits the formation of F-actin-rich structures, thereby regulating endothelial cell migration (PubMed:30158707).',NULL,NULL,NULL,NULL,NULL),(9216,'UniProt Function',NULL,11069,NULL,'Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the formation of thin, actin-rich surface projections called filopodia.',NULL,NULL,NULL,NULL,NULL),(9217,'UniProt Function',NULL,11070,NULL,'Involved in protein trafficking via association with clathrin and AP2 complex (PubMed:27022195, PubMed:21266579). Upon bacterial lipopolysaccharide stimulation, mediates internalization of TLR4 to endosomes in dendritic cells and macrophages; and internalization of poly(I:C) to TLR3-positive endosomes in myeloid dendritic cells and epithelial cells; resulting in activation of TICAM1-mediated signaling and subsequent IFNB1 production (PubMed:27022195, PubMed:21266579). Involved in T-cell antigen receptor-mediated signaling by regulating tyrosine kinase LCK localization, T-cell dependent antibody production and cytokine secretion (By similarity). May regulate B-cell antigen receptor-mediated signaling (PubMed:12805216). May play a pivotal role in the formation and/or maintenance of lipid rafts (PubMed:12805216).',NULL,NULL,NULL,NULL,NULL),(9218,'UniProt Function',NULL,11071,NULL,'The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1.',NULL,NULL,NULL,NULL,NULL),(9219,'UniProt Function',NULL,11072,NULL,'Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesn\'t seems to activate other Ras family proteins (in vitro).',NULL,NULL,NULL,NULL,NULL),(9220,'UniProt Function',NULL,11073,NULL,'Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.',NULL,NULL,NULL,NULL,NULL),(9221,'UniProt Function',NULL,11075,NULL,'Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the N-formylpeptide chemoattractant receptors and leukotriene receptors (PubMed:10480894). Inhibits B cell chemotaxis toward CXCL12 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form (PubMed:10480894, PubMed:18434541).',NULL,NULL,NULL,NULL,NULL),(9222,'UniProt Function',NULL,11076,NULL,'The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP and may thereby required for efficient fusion of endosome-derived vesicles with the Golgi compartment. The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors.',NULL,NULL,NULL,NULL,NULL),(9223,'UniProt Function',NULL,11077,NULL,'Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity). Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of target genes (PubMed:20148032). Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells (PubMed:12411430).',NULL,NULL,NULL,NULL,NULL),(9224,'UniProt Function',NULL,11078,NULL,'Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. The RGS6/GNB5 dimer enhances GNAO1 GTPase activity (PubMed:10521509).',NULL,NULL,NULL,NULL,NULL),(9225,'UniProt Function',NULL,11079,NULL,'May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.',NULL,NULL,NULL,NULL,NULL),(9226,'UniProt Function',NULL,11080,NULL,'Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization. Acts as a GTPase activator for the Rac-type GTPase by converting it to an inactive GDP-bound state. Controls actin remodeling by inactivating Rac downstream of Rho leading to suppress leading edge protrusion and promotes cell retraction to achieve cellular polarity. Able to suppress RAC1 and CDC42 activity in vitro. Overexpression induces cell rounding with partial or complete disruption of actin stress fibers and formation of membrane ruffles, lamellipodia, and filopodia. Isoform 2 is a vascular cell-specific GAP involved in modulation of angiogenesis.',NULL,NULL,NULL,NULL,NULL),(9227,'UniProt Function',NULL,11081,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.',NULL,NULL,NULL,NULL,NULL),(9228,'UniProt Function',NULL,11082,NULL,'Inhibitory effect on stress fiber organization. May down-regulate Rho-like GTPase in hematopoietic cells.',NULL,NULL,NULL,NULL,NULL),(9229,'UniProt Function',NULL,11083,NULL,'Plays a role in the regulation of cell shape and polarity. Plays a role in cellular protein transport, including protein transport away from primary cilia. Neuroprotective protein, which acts by sequestring GAPDH in the cytosol and prevent the apoptotic function of GAPDH in the nucleus. Competes with SIAH1 for binding GAPDH (By similarity). Does not regulate lysosomal morphology and distribution.',NULL,NULL,NULL,NULL,NULL),(9230,'UniProt Function',NULL,11084,NULL,'May be a transcription factor.',NULL,NULL,NULL,NULL,NULL),(9231,'UniProt Function',NULL,11085,NULL,'Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:9806546, PubMed:10072068, PubMed:10725724). May also potentiate the activation of RAF1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(9232,'UniProt Function',NULL,11085,NULL,'Isoform 2 is not involved in the positive regulation of MHC class II genes.',NULL,NULL,NULL,NULL,NULL),(9233,'UniProt Function',NULL,11086,NULL,'Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an \'address tag\' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. Also required for the structural integrity of the endosomal recycling compartment during interphase. May play a role in breast cancer cell motility by regulating actin cytoskeleton. Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (PubMed:25035494).',NULL,NULL,NULL,NULL,NULL),(9234,'UniProt Function',NULL,11087,NULL,'Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:18434541). Modulates the activity of potassium channels that are activated in response to DRD2 and CHRM2 signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(9235,'UniProt Function',NULL,11088,NULL,'Gluconolactonase with low activity towards other sugar lactones, including gulonolactone and galactonolactone. Can also hydrolyze diisopropyl phosphorofluoridate and phenylacetate (in vitro). Calcium-binding protein. Modulates Ca(2+) signaling, and Ca(2+)-dependent cellular processes and enzyme activities (By similarity).',NULL,NULL,NULL,NULL,NULL),(9236,'UniProt Function',NULL,11089,NULL,'Functions as a calcium-regulated nucleotide exchange factor activating both Ras and RAC1 through the exchange of bound GDP for GTP. Preferentially activates HRAS in vivo compared to RRAS based on their different types of prenylation. Functions in synaptic plasticity by contributing to the induction of long term potentiation.',NULL,NULL,NULL,NULL,NULL),(9237,'UniProt Function',NULL,11090,NULL,'Rhomboid protease-like protein which has no protease activity but regulates the secretion of several ligands of the epidermal growth factor receptor. Indirectly activates the epidermal growth factor receptor signaling pathway and may thereby regulate sleep, cell survival, proliferation and migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(9238,'UniProt Function',NULL,11091,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.',NULL,NULL,NULL,NULL,NULL),(9239,'UniProt Function',NULL,11092,NULL,'Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity.',NULL,NULL,NULL,NULL,NULL),(9240,'UniProt Function',NULL,11093,NULL,'Rab effector playing a role in late endocytic transport to degradative compartments. Involved in the regulation of lysosomal morphology and distribution. Induces recruitment of dynein-dynactin motor complexes to Rab7A-containing late endosome and lysosome compartments. Promotes centripetal migration of phagosomes and the fusion of phagosomes with the late endosomes and lysosomes.',NULL,NULL,NULL,NULL,NULL),(9241,'UniProt Function',NULL,11094,NULL,'Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Is involved in the demethylation of trimethylated \'Lys-9\' on histone H3 (H3K9me3), leading to an increase in ribosomal RNA expression. Also catalyzes the hydroxylation of 60S ribosomal protein L27a on \'His-39\'. May play an important role in cell growth and survival. May be involved in ribosome biogenesis, most likely during the assembly process of pre-ribosomal particles.',NULL,NULL,NULL,NULL,NULL),(9242,'UniProt Function',NULL,11095,NULL,'Serine-threonine kinase which transduces inflammatory and cell-death signals (programmed necrosis) following death receptors ligation, activation of pathogen recognition receptors (PRRs), and DNA damage (PubMed:11101870, PubMed:17389591, PubMed:19524512, PubMed:19524513). Upon activation of TNFR1 by the TNF-alpha family cytokines, TRADD and TRAF2 are recruited to the receptor (PubMed:11101870, PubMed:17389591, PubMed:19524512, PubMed:19524513). Phosphorylates DAB2IP at \'Ser-728\' in a TNF-alpha-dependent manner, and thereby activates the MAP3K5-JNK apoptotic cascade (PubMed:17389591). Ubiquitination by TRAF2 via \'Lys-63\'-link chains acts as a critical enhancer of communication with downstream signal transducers in the mitogen-activated protein kinase pathway and the NF-kappa-B pathway, which in turn mediate downstream events including the activation of genes encoding inflammatory molecules (PubMed:15258597). Polyubiquitinated protein binds to IKBKG/NEMO, the regulatory subunit of the IKK complex, a critical event for NF-kappa-B activation. Interaction with other cellular RHIM-containing adapters initiates gene activation and cell death (PubMed:15258597). RIPK1 and RIPK3 association, in particular, forms a necrosis-inducing complex (PubMed:19524513, PubMed:19524512).',NULL,NULL,NULL,NULL,NULL),(9243,'UniProt Function',NULL,11096,NULL,'Ribonuclease inhibitor which inhibits RNASE1, RNASE2 and ANG. May play a role in redox homeostasis.',NULL,NULL,NULL,NULL,NULL),(9244,'UniProt Function',NULL,11097,NULL,'Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments.',NULL,NULL,NULL,NULL,NULL),(9245,'UniProt Function',NULL,11098,NULL,'Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. No steroid dehydrogenase activity detected.',NULL,NULL,NULL,NULL,NULL),(9246,'UniProt Function',NULL,11099,NULL,'Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to polyubiquitin chains. Proposed to be capable to bind simultaneously to the 26S proteasome and to polyubiquitinated substrates and to deliver ubiquitinated proteins to the proteasome. May play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded glycoproteins by association with PNGase and delivering deglycosylated proteins to the proteasome.',NULL,NULL,NULL,NULL,NULL),(9247,'UniProt Function',NULL,11099,NULL,'Involved in global genome nucleotide excision repair (GG-NER) by acting as component of the XPC complex. Cooperatively with CETN2 appears to stabilize XPC. May protect XPC from proteasomal degradation.',NULL,NULL,NULL,NULL,NULL),(9248,'UniProt Function',NULL,11099,NULL,'The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5\'-to-3\' direction by the NER machinery. Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair. In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA and also binds to a variety of chemically and structurally diverse DNA adducts. XPC:RAD23B contacts DNA both 5\' and 3\' of a cisplatin lesion with a preference for the 5\' side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B stimulates the activity of DNA glycosylases TDG and SMUG1.',NULL,NULL,NULL,NULL,NULL),(9249,'UniProt Function',NULL,11100,NULL,'Isoform beta is a DNA helicase that plays an important role in DNA replication, transcription and repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination.',NULL,NULL,NULL,NULL,NULL),(9250,'UniProt Function',NULL,11101,NULL,'Binds GTP saturably and exhibits a low intrinsic rate of GTP hydrolysis.',NULL,NULL,NULL,NULL,NULL),(9251,'UniProt Function',NULL,11102,NULL,'Probable hormone.',NULL,NULL,NULL,NULL,NULL),(9252,'UniProt Function',NULL,11104,NULL,'The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit binds ATP (By similarity).',NULL,NULL,NULL,NULL,NULL),(9253,'UniProt Function',NULL,11105,NULL,'Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in the formation of cartilaginous skeletal elements.',NULL,NULL,NULL,NULL,NULL),(9254,'UniProt Function',NULL,11106,NULL,'Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:15096504). Binds selectively to GNAZ and GNAI2 subunits, accelerates their GTPase activity and regulates their signaling activities. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9255,'UniProt Function',NULL,11108,NULL,'Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:11063746, PubMed:19478087). It is involved in the negative regulation of the angiotensin-activated signaling pathway (PubMed:28784619). Plays a role in the regulation of blood pressure in response to signaling via G protein-coupled receptors and GNAQ. Plays a role in regulating the constriction and relaxation of vascular smooth muscle (By similarity). Binds EIF2B5 and blocks its activity, thereby inhibiting the translation of mRNA into protein (PubMed:19736320).',NULL,NULL,NULL,NULL,NULL),(9256,'UniProt Function',NULL,11109,NULL,'Transcription factor that acts as a key regulator of spermatogenesis. Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (By similarity). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5\'-GTNRCC(0-3N)RGYAAC-3\' present on promoters (PubMed:10330134). Probably activates transcription of the testis-specific histone gene HIST1H1T (By similarity).',NULL,NULL,NULL,NULL,NULL),(9257,'UniProt Function',NULL,11110,NULL,'Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Activity on G(z)-alpha is inhibited by phosphorylation of the G-protein. Activity on G(z)-alpha and G(i)-alpha-1 is inhibited by palmitoylation of the G-protein.',NULL,NULL,NULL,NULL,NULL),(9258,'UniProt Function',NULL,11111,NULL,'GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G-proteins-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly locomotor activity and motor coordination.',NULL,NULL,NULL,NULL,NULL),(9259,'UniProt Function',NULL,11112,NULL,'Acts upstream of PAK1 to regulate the actin cytoskeleton, adhesion turnover and increase cell migration. Stimulates quiescent cells to reenter the cell cycle. Has no detectable GTPase activity but its high intrinsic guanine nucleotide exchange activity suggests it is constitutively GTP-bound. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.',NULL,NULL,NULL,NULL,NULL),(9260,'UniProt Function',NULL,11113,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.',NULL,NULL,NULL,NULL,NULL),(9261,'UniProt Function',NULL,11114,NULL,'GTPase-activating protein (GAP) for RAC1 and RHOA, but not for CDC42.',NULL,NULL,NULL,NULL,NULL),(9262,'UniProt Function',NULL,11115,NULL,'Lacks editing activity. It prevents the binding of other ADAR enzymes to targets in vitro, and decreases the efficiency of these enzymes. Capable of binding to dsRNA but also to ssRNA.',NULL,NULL,NULL,NULL,NULL),(9263,'UniProt Function',NULL,11116,NULL,'Involved in growth factor signaling through its influence on the Ral signaling pathway.',NULL,NULL,NULL,NULL,NULL),(9264,'UniProt Function',NULL,11117,NULL,'Seems to have no detectable effect on transcription elongation in vitro.',NULL,NULL,NULL,NULL,NULL),(9265,'UniProt Function',NULL,11118,NULL,'Guanine nucleotide exchange factor (GEF) for Ral-A. Potential effector of GTPase HRas and Ras-related protein M-Ras. Negatively regulates Elk-1-dependent gene induction downstream of HRas and MEKK1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(9266,'UniProt Function',NULL,11120,NULL,'(Microbial infection) Stimulates the activity of Human Immunodeficiency Virus 1/HIV-1 pre-integration complex.',NULL,NULL,NULL,NULL,NULL),(9267,'UniProt Function',NULL,11122,NULL,'Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Involved in insulin granule exocytosis. May regulate V-ATPase intracellular transport in response to extracellular acidosis.',NULL,NULL,NULL,NULL,NULL),(9268,'UniProt Function',NULL,11123,NULL,'Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to GNAT1. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity).',NULL,NULL,NULL,NULL,NULL),(9269,'UniProt Function',NULL,11124,NULL,'Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form.',NULL,NULL,NULL,NULL,NULL),(9270,'UniProt Function',NULL,11125,NULL,'Member of the repulsive guidance molecule (RGM) family that contributes to the patterning of the developing nervous system (By similarity). Acts as a bone morphogenetic protein (BMP) coreceptor that potentiates BMP signaling (By similarity). Promotes neuronal adhesion (By similarity). May inhibit neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(9271,'UniProt Function',NULL,11126,NULL,'Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i)-alpha and G(o)-alpha, but not to G(s)-alpha (By similarity).',NULL,NULL,NULL,NULL,NULL),(9272,'UniProt Function',NULL,11127,NULL,'Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(9273,'UniProt Function',NULL,11128,NULL,'Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling. This induces morphological changes and detachment through cytoskeletal reorganization, playing a critical role in biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality.',NULL,NULL,NULL,NULL,NULL),(9274,'UniProt Function',NULL,11129,NULL,'GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.',NULL,NULL,NULL,NULL,NULL),(9275,'UniProt Function',NULL,11130,NULL,'Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 \'Ser-473\' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on \'Thr-308\' by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at \'Ser-422\'. mTORC2 also modulates the phosphorylation of PRKCA on \'Ser-657\'. Plays an essential role in embryonic growth and development.',NULL,NULL,NULL,NULL,NULL),(9276,'UniProt Function',NULL,11131,NULL,'Cooperates with PTBP1 to modulate regulated alternative splicing events. Promotes exon skipping. Cooperates with PTBP1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(9277,'UniProt Function',NULL,11132,NULL,'May act as scaffolding protein, and as adapter protein to couple membrane receptors to intracellular signaling pathways (Probable). Acts as a mediator of cell spreading and actin cytoskeleton rearrangement (PubMed:18710924). Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). May be involved in signaling of ITGB2/LFA-1 and other integrins (PubMed:14722085). Enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway (PubMed:12147692). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but not affect estrogen-induced transactivation (PubMed:12361945, PubMed:18222118). Stabilizes TP73 isoform Alpha, probably by inhibiting its ubiquitination, and increases its proapoptotic activity (PubMed:15558019). Inhibits the kinase activity of DYRK1A and DYRK1B. Inhibits FMR1 binding to RNA.',NULL,NULL,NULL,NULL,NULL),(9278,'UniProt Function',NULL,11133,NULL,'In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along the neural lineage, regulating gene induction and H3 \'Lys-4\' methylation at key developmental loci, including that mediated by retinoic acid (By similarity). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at \'Lys-4\' of histone H3. Histone H3 \'Lys-4\' methylation represents a specific tag for epigenetic transcriptional activation.',NULL,NULL,NULL,NULL,NULL),(9279,'UniProt Function',NULL,11134,NULL,'Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. Involved in EGFR and CHRM3 signaling pathways through stimulation of PLCE1. May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. May regulate membrane vesiculation in red blood cells.',NULL,NULL,NULL,NULL,NULL),(9280,'UniProt Function',NULL,11135,NULL,'May act as a component of a corepressor complex that represses transcription.',NULL,NULL,NULL,NULL,NULL),(9281,'UniProt Function',NULL,11136,NULL,'Not known. Binds calcium.',NULL,NULL,NULL,NULL,NULL),(9282,'UniProt Function',NULL,11137,NULL,'Endoplasmic reticulum-anchored autophagy receptor that mediates ER delivery into lysosomes through sequestration into autophagosomes (PubMed:26040720). Promotes membrane remodeling and ER scission via its membrane bending capacity and targets the fragments into autophagosomes via interaction with ATG8 family proteins (PubMed:26040720). Required for long-term survival of nociceptive and autonomic ganglion neurons (PubMed:19838196, PubMed:26040720).',NULL,NULL,NULL,NULL,NULL),(9283,'UniProt Function',NULL,11138,NULL,'Transcription factor that plays a role in early brain development. May activate transcription by interacting directly with the X-box. May activate transcription from CX3CL1 promoter through the X-box during brain development.',NULL,NULL,NULL,NULL,NULL),(9284,'UniProt Function',NULL,11139,NULL,'Probable guanine nucleotide exchange factor.',NULL,NULL,NULL,NULL,NULL),(9285,'UniProt Function',NULL,11140,NULL,'RNA-binding protein that regulates alternative splicing events by binding to 5\'-UGCAUGU-3\' elements. Prevents binding of U2AF2 to the 3\'-splice site. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis (By similarity). RNA-binding protein that seems to act as a coregulatory factor of ER-alpha.',NULL,NULL,NULL,NULL,NULL),(9286,'UniProt Function',NULL,11141,NULL,'Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.',NULL,NULL,NULL,NULL,NULL),(9287,'UniProt Function',NULL,11144,NULL,'May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.',NULL,NULL,NULL,NULL,NULL),(9288,'UniProt Function',NULL,11145,NULL,'Associated with rhesus blood group antigen expression (PubMed:19744193). May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane (PubMed:11062476, PubMed:11861637). Involved in ammonia transport across the erythrocyte membrane (PubMed:21849667, PubMed:22012326). Seems to act in monovalent cation transport (PubMed:18931342, PubMed:21849667).',NULL,NULL,NULL,NULL,NULL),(9289,'UniProt Function',NULL,11146,NULL,'Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRAC processing. Involved in the regulation of exosomal secretion; inhibits the TSAP6-mediated secretion pathway. Involved in the regulation of apoptosis; modulates BIK-mediated apoptotic activity. Also plays a role in the regulation of spermatogenesis; inhibits apoptotic activity in spermatogonia.',NULL,NULL,NULL,NULL,NULL),(9290,'UniProt Function',NULL,11149,NULL,'Ras effector protein that functions as a guanine nucleotide exchange (GEF) for RAB5B and RAB31, by exchanging bound GDP for free GTP. Required for normal RAB31 function.',NULL,NULL,NULL,NULL,NULL),(9291,'UniProt Function',NULL,11150,NULL,'Constitutes one of the E3 ubiquitin-protein ligases that mediate monoubiquitination of \'Lys-119\' of histone H2A, thereby playing a central role in histone code and gene regulation. H2A \'Lys-119\' ubiquitination gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones, rendering chromatin heritably changed in its expressibility. Compared to RNF2/RING2, it does not have the main E3 ubiquitin ligase activity on histone H2A, and it may rather act as a modulator of RNF2/RING2 activity.',NULL,NULL,NULL,NULL,NULL),(9292,'UniProt Function',NULL,11151,NULL,'Plays a role in somitogenesis. Required for somite segregation and establishment of rostrocaudal polarity in somites (By similarity).',NULL,NULL,NULL,NULL,NULL),(9293,'UniProt Function',NULL,11152,NULL,'Regulates synaptic membrane exocytosis.',NULL,NULL,NULL,NULL,NULL),(9294,'UniProt Function',NULL,11153,NULL,'Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage.',NULL,NULL,NULL,NULL,NULL),(9295,'UniProt Function',NULL,11155,NULL,'Involved in stratified epithelial development. It is a direct transcriptional target of TP63. Plays a role in NF-kappa-B activation.',NULL,NULL,NULL,NULL,NULL),(9296,'UniProt Function',NULL,11156,NULL,'Binds and exchanges GTP and GDP. Binds and modulates the activation of POU4F1 as gene expression regulator.',NULL,NULL,NULL,NULL,NULL),(9297,'UniProt Function',NULL,11159,NULL,'Required for processing of pre-rRNA and maturation of 40S ribosomal subunits.',NULL,NULL,NULL,NULL,NULL),(9298,'UniProt Function',NULL,11163,NULL,'Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.',NULL,NULL,NULL,NULL,NULL),(9299,'UniProt Function',NULL,11163,NULL,'40S Ribosomal protein S27a: Component of the 40S subunit of the ribosome.',NULL,NULL,NULL,NULL,NULL),(9300,'UniProt Function',NULL,11165,NULL,'Component of the small ribosomal subunit (PubMed:8706699). Required for proper rRNA processing and maturation of 18S rRNAs (PubMed:25424902).',NULL,NULL,NULL,NULL,NULL),(9301,'UniProt Function',NULL,11169,NULL,'Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B.',NULL,NULL,NULL,NULL,NULL),(9302,'UniProt Function',NULL,11170,NULL,'Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Specifically demethylates \'Lys-4\' (H3K4me) and \'Lys-36\' (H3K36me) of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 \'Lys-4\' (H3K4me3) and monomethylated H3 \'Lys-4\' (H3K4me1) residues, while it has weaker activity for dimethylated H3 \'Lys-36\' (H3K36me2). Also catalyzes the hydroxylation of 60S ribosomal protein L8 on \'His-216\'. Acts as a regulator of osteoblast differentiation via its interaction with SP7/OSX by demethylating H3K4me and H3K36me, thereby inhibiting SP7/OSX-mediated promoter activation (By similarity). May also play a role in ribosome biogenesis and in the replication or remodeling of certain heterochromatic region. Participates in MYC-induced transcriptional activation.',NULL,NULL,NULL,NULL,NULL),(9303,'UniProt Function',NULL,11171,NULL,'Regulates synaptic membrane exocytosis.',NULL,NULL,NULL,NULL,NULL),(9304,'UniProt Function',NULL,11172,NULL,'E3 ubiquitin-protein ligase that mediates monoubiquitination of \'Lys-119\' of histone H2A (H2AK119Ub), thereby playing a central role in histone code and gene regulation (PubMed:15386022, PubMed:16359901, PubMed:25519132, PubMed:21772249, PubMed:25355358, PubMed:26151332). H2AK119Ub gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. May be involved in the initiation of both imprinted and random X inactivation (By similarity). Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:16359901, PubMed:26151332). PcG PRC1 complex acts via chromatin remodeling and modification of histones, rendering chromatin heritably changed in its expressibility (PubMed:26151332). E3 ubiquitin-protein ligase activity is enhanced by BMI1/PCGF4 (PubMed:21772249). Acts as the main E3 ubiquitin ligase on histone H2A of the PRC1 complex, while RING1 may rather act as a modulator of RNF2/RING2 activity (Probable). Association with the chromosomal DNA is cell-cycle dependent. In resting B- and T-lymphocytes, interaction with AURKB leads to block its activity, thereby maintaining transcription in resting lymphocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(9305,'UniProt Function',NULL,11173,NULL,'Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. Inhibits Wnt signaling.',NULL,NULL,NULL,NULL,NULL),(9306,'UniProt Function',NULL,11176,NULL,'Scaffolding protein that is part of a multiprotein signaling complex. Promotes phosphorylation of Raf family members and activation of downstream MAP kinases. Promotes activation of MAPK1 and/or MAPK3, both in response to EGF and to cAMP. Does not have kinase activity by itself.',NULL,NULL,NULL,NULL,NULL),(9307,'UniProt Function',NULL,11177,NULL,'Location-regulated scaffold connecting MEK to RAF. Has very low protein kinase activity and can phosphorylate MAP2K1 at several Ser and Thr residues with very low efficiency (in vitro). Interaction with BRAF enhances KSR2-mediated phosphorylation of MAP2K1 (in vitro). Blocks MAP3K8 kinase activity and MAP3K8-mediated signaling. Acts as a negative regulator of MAP3K3-mediated activation of ERK, JNK and NF-kappa-B pathways, inhibiting MAP3K3-mediated interleukin-8 production.',NULL,NULL,NULL,NULL,NULL),(9308,'UniProt Function',NULL,11178,NULL,'Regulates microtubule-severing activity of KATNAL1 in a concentration-dependent manner in vitro.',NULL,NULL,NULL,NULL,NULL),(9309,'UniProt Function',NULL,11179,NULL,'May act as a soluble regulator of keratinocyte differentiation. May play an important role in embryonic skin morphogenesis.',NULL,NULL,NULL,NULL,NULL),(9310,'UniProt Function',NULL,11181,NULL,'Plays an inhibitory role on IL13 signaling by binding to IL13RA1. Involved in suppression of IL13-induced STAT6 phosphorylation, transcriptional activity and DNA-binding. Recruits TRAF3 and DISC1 to the microtubules. Involved in kidney development and epithelial morphogenesis. Involved in the regulation of microtubule cytoskeleton organization. Is a negative regulator of microtubule stability, acting through the control of MAP4 levels (PubMed:26487268). Involved in ciliogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(9311,'UniProt Function',NULL,11182,NULL,'Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution.',NULL,NULL,NULL,NULL,NULL),(9312,'UniProt Function',NULL,11183,NULL,'Plays a role in mitotic spindle orientation and mitotic progression. Regulates the distribution of dynactin at the cell cortex in a PLK1-dependent manner, thus stabilizing cortical and astral microtubule attachments required for proper mitotic spindle positioning. May link microtubules to the actin cytospkeleton and focal adhesions. May be required for directed cell migration and centrosome orientation. May also be necessary for proper stacking of the Golgi apparatus.',NULL,NULL,NULL,NULL,NULL),(9313,'UniProt Function',NULL,11184,NULL,'This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the Muellerian duct. It is also able to inhibit the growth of tumors derived from tissues of Muellerian duct origin.',NULL,NULL,NULL,NULL,NULL),(9314,'UniProt Function',NULL,11185,NULL,'Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5\'-TCATGTG-3\') and symmetrical DNA sequences (E-boxes) (5\'-CACGTG-3\') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.',NULL,NULL,NULL,NULL,NULL),(9315,'UniProt Function',NULL,11186,NULL,'Atypical MAPK protein. Phosphorylates microtubule-associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK3/MAPK6 is phosphorylated at Ser-189 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK3/MAPK6. May promote entry in the cell cycle (By similarity).',NULL,NULL,NULL,NULL,NULL),(9316,'UniProt Function',NULL,11189,NULL,'Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (PubMed:28753627).',NULL,NULL,NULL,NULL,NULL),(9317,'UniProt Function',NULL,11192,NULL,'Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3-hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3-hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyase activity.',NULL,NULL,NULL,NULL,NULL),(9318,'UniProt Function',NULL,11193,NULL,'Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.',NULL,NULL,NULL,NULL,NULL),(9319,'UniProt Function',NULL,11194,NULL,'Metalloprotease that mediates cleavage of N-cadherin (CDH2) and acts as a regulator of neuro-immune interactions and neural stem cell quiescence. Involved in cell-cell interactions between nociceptive neurites and mast cells, possibly by mediating cleavage of CDH2, thereby acting as a mediator of peripheral thermal nociception and inflammatory hyperalgesia. Key regulator of neural stem cells quiescence by mediating cleavage of CDH2, affecting CDH2-mediated anchorage of neural stem cells to ependymocytes in the adult subependymal zone, leading to modulate their quiescence. May play a role in axonal growth. Able to activate progelatinase A. May also be a proteoglycanase involved in degradation of proteoglycans, such as dermatan sulfate and chondroitin sulfate proteoglycans. Cleaves partially fibronectin, but not collagen type I, nor laminin (By similarity).',NULL,NULL,NULL,NULL,NULL),(9320,'UniProt Function',NULL,11195,NULL,'Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.',NULL,NULL,NULL,NULL,NULL),(9321,'UniProt Function',NULL,11196,NULL,'Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide. Has a higher activity toward alpha-dystroglycan than LARGE.',NULL,NULL,NULL,NULL,NULL),(9322,'UniProt Function',NULL,11197,NULL,'Histone demethylase that demethylates both \'Lys-4\' (H3K4me) and \'Lys-9\' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono- (H3K4me1) and di-methylated (H3K4me2) H3K4me. May play a role in the repression of neuronal genes. Alone, it is unable to demethylate H3K4me on nucleosomes and requires the presence of RCOR1/CoREST to achieve such activity. Also acts as a coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and mediating demethylation of H3K9me, a specific tag for epigenetic transcriptional repression. The presence of PRKCB in ANDR-containing complexes, which mediates phosphorylation of \'Thr-6\' of histone H3 (H3T6ph), a specific tag that prevents demethylation H3K4me, prevents H3K4me demethylase activity of KDM1A. Demethylates di-methylated \'Lys-370\' of p53/TP53 which prevents interaction of p53/TP53 with TP53BP1 and represses p53/TP53-mediated transcriptional activation. Demethylates and stabilizes the DNA methylase DNMT1. Required for gastrulation during embryogenesis. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Effector of SNAI1-mediated transcription repression of E-cadherin/CDH1, CDN7 and KRT8. Required for the maintenance of the silenced state of the SNAI1 target genes E-cadherin/CDH1 and CDN7.',NULL,NULL,NULL,NULL,NULL),(9323,'UniProt Function',NULL,11198,NULL,'Histone demethylase that demethylates \'Lys-4\' and \'Lys-36\' of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 \'Lys-4\' and dimethylated H3 \'Lys-36\' residue while it has weak or no activity for mono- and tri-methylated H3 \'Lys-36\'. Preferentially binds the transcribed region of ribosomal RNA and represses the transcription of ribosomal RNA genes which inhibits cell growth and proliferation. May also serve as a substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(9324,'UniProt Function',NULL,11199,NULL,'Histone demethylase that specifically demethylates \'Lys-9\' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May have tumor suppressor activity.',NULL,NULL,NULL,NULL,NULL),(9325,'UniProt Function',NULL,11200,NULL,'Histone demethylase that specifically demethylates \'Lys-9\' of histone H3, thereby playing a role in histone code. Does not demethylate histone H3 \'Lys-4\', H3 \'Lys-27\', H3 \'Lys-36\' nor H4 \'Lys-20\'. Only able to demethylate trimethylated H3 \'Lys-9\', with a weaker activity than KDM4A, KDM4C and KDM4D. Demethylation of Lys residue generates formaldehyde and succinate.',NULL,NULL,NULL,NULL,NULL),(9326,'UniProt Function',NULL,11201,NULL,'Histone demethylase that specifically demethylates \'Lys-9\' and \'Lys-36\' residues of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 \'Lys-4\', H3 \'Lys-27\' nor H4 \'Lys-20\'. Demethylates trimethylated H3 \'Lys-9\' and H3 \'Lys-36\' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate.',NULL,NULL,NULL,NULL,NULL),(9327,'UniProt Function',NULL,11202,NULL,'Histone demethylase that specifically demethylates \'Lys-4\' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 \'Lys-9\', H3 \'Lys-27\', H3 \'Lys-36\', H3 \'Lys-79\' or H4 \'Lys-20\'. Demethylates trimethylated and dimethylated but not monomethylated H3 \'Lys-4\'. Regulates specific gene transcription through DNA-binding on 5\'-CCGCCC-3\' motif (PubMed:18270511). May stimulate transcription mediated by nuclear receptors. Involved in transcriptional regulation of Hox proteins during cell differentiation (PubMed:19430464). May participate in transcriptional repression of cytokines such as CXCL12. Plays a role in the regulation of the circadian rhythm and in maintaining the normal periodicity of the circadian clock. In a histone demethylase-independent manner, acts as a coactivator of the CLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER1/2 and other clock-controlled genes and increases histone acetylation at PER1/2 promoters by inhibiting the activity of HDAC1 (By similarity). Seems to act as a transcriptional corepressor for some genes such as MT1F and to favor the proliferation of cancer cells (PubMed:27427228).',NULL,NULL,NULL,NULL,NULL),(9328,'UniProt Function',NULL,11203,NULL,'Histone demethylase that specifically demethylates \'Lys-4\' of histone H3, thereby playing a central role in histone code (PubMed:28262558). Does not demethylate histone H3 \'Lys-9\', H3 \'Lys-27\', H3 \'Lys-36\', H3 \'Lys-79\' or H4 \'Lys-20\'. Demethylates trimethylated and dimethylated but not monomethylated H3 \'Lys-4\'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(9329,'UniProt Function',NULL,11204,NULL,'Histone demethylase that specifically demethylates \'Lys-4\' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 \'Lys-9\', H3 \'Lys-27\', H3 \'Lys-36\', H3 \'Lys-79\' or H4 \'Lys-20\'. Demethylates trimethylated and dimethylated but not monomethylated H3 \'Lys-4\'. May play a role in spermatogenesis. Involved in transcriptional repression of diverse metastasis-associated genes; in this function seems to cooperate with ZMYND8. Suppresses prostate cancer cell invasion. Regulates androgen receptor (AR) transcriptional activity by demethylating H3K4me3 active transcription marks.',NULL,NULL,NULL,NULL,NULL),(9330,'UniProt Function',NULL,11205,NULL,'Histone demethylase that specifically demethylates \'Lys-27\' of histone H3, thereby playing a central role in histone code (PubMed:17851529, PubMed:17713478, PubMed:17761849). Demethylates trimethylated and dimethylated but not monomethylated H3 \'Lys-27\' (PubMed:17851529, PubMed:17713478, PubMed:17761849). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Demethylation of \'Lys-27\' of histone H3 is concomitant with methylation of \'Lys-4\' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A (PubMed:17761849). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression (By similarity).',NULL,NULL,NULL,NULL,NULL),(9331,'UniProt Function',NULL,11206,NULL,'Histone demethylase that specifically demethylates \'Lys-27\' of histone H3, thereby playing a central role in histone code (PubMed:17825402, PubMed:17851529, PubMed:17713478, PubMed:18003914). Demethylates trimethylated and dimethylated H3 \'Lys-27\' (PubMed:17825402, PubMed:17851529, PubMed:17713478, PubMed:18003914). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Involved in inflammatory response by participating in macrophage differentiation in case of inflammation by regulating gene expression and macrophage differentiation (PubMed:17825402). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression by acting as a link between T-box factors and the SMARCA4-containing SWI/SNF remodeling complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(9332,'UniProt Function',NULL,11207,NULL,'Histone demethylase required for brain development. Specifically demethylates dimethylated \'Lys-9\' and \'Lys-27\' (H3K9me2 and H3K27me2, respectively) of histone H3 and monomethylated histone H4 \'Lys-20\' residue (H4K20Me1), thereby playing a central role in histone code. Specifically binds trimethylated \'Lys-4\' of histone H3 (H3K4me3), affecting histone demethylase specificity: in presence of H3K4me3, it has no demethylase activity toward H3K9me2, while it has high activity toward H3K27me2. Demethylates H3K9me2 in absence of H3K4me3. Has activity toward H4K20Me1 only when nucleosome is used as a substrate and when not histone octamer is used as substrate.',NULL,NULL,NULL,NULL,NULL),(9333,'UniProt Function',NULL,11208,NULL,'Serine/threonine protein kinase that acts as key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular proteins. Numerous protein targets for PRKG1 phosphorylation are implicated in modulating cellular calcium, but the contribution of each of these targets may vary substantially among cell types. Proteins that are phosphorylated by PRKG1 regulate platelet activation and adhesion, smooth muscle contraction, cardiac function, gene expression, feedback of the NO-signaling pathway, and other processes involved in several aspects of the CNS like axon guidance, hippocampal and cerebellar learning, circadian rhythm and nociception. Smooth muscle relaxation is mediated through lowering of intracellular free calcium, by desensitization of contractile proteins to calcium, and by decrease in the contractile state of smooth muscle or in platelet activation. Regulates intracellular calcium levels via several pathways: phosphorylates MRVI1/IRAG and inhibits IP3-induced Ca(2+) release from intracellular stores, phosphorylation of KCNMA1 (BKCa) channels decreases intracellular Ca(2+) levels, which leads to increased opening of this channel. PRKG1 phosphorylates the canonical transient receptor potential channel (TRPC) family which inactivates the associated inward calcium current. Another mode of action of NO/cGMP/PKGI signaling involves PKGI-mediated inactivation of the Ras homolog gene family member A (RhoA). Phosphorylation of RHOA by PRKG1 blocks the action of this protein in myriad processes: regulation of RHOA translocation; decreasing contraction; controlling vesicle trafficking, reduction of myosin light chain phosphorylation resulting in vasorelaxation. Activation of PRKG1 by NO signaling alters also gene expression in a number of tissues. In smooth muscle cells, increased cGMP and PRKG1 activity influence expression of smooth muscle-specific contractile proteins, levels of proteins in the NO/cGMP signaling pathway, down-regulation of the matrix proteins osteopontin and thrombospondin-1 to limit smooth muscle cell migration and phenotype. Regulates vasodilator-stimulated phosphoprotein (VASP) functions in platelets and smooth muscle.',NULL,NULL,NULL,NULL,NULL),(9334,'UniProt Function',NULL,11209,NULL,'Receptor on natural killer (NK) cells for HLA-Cw1, 3, 7, and 8 allotypes. Inhibits the activity of NK cells thus preventing cell lysis.',NULL,NULL,NULL,NULL,NULL),(9335,'UniProt Function',NULL,11210,NULL,'Receptor on natural killer (NK) cells for HLA-C alleles (HLA-Cw1, HLA-Cw3 and HLA-Cw7). Inhibits the activity of NK cells thus preventing cell lysis.',NULL,NULL,NULL,NULL,NULL),(9336,'UniProt Function',NULL,11211,NULL,'Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.',NULL,NULL,NULL,NULL,NULL),(9337,'UniProt Function',NULL,11212,NULL,'Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.',NULL,NULL,NULL,NULL,NULL),(9338,'UniProt Function',NULL,11213,NULL,'Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells.',NULL,NULL,NULL,NULL,NULL),(9339,'UniProt Function',NULL,11214,NULL,'Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells.',NULL,NULL,NULL,NULL,NULL),(9340,'UniProt Function',NULL,11215,NULL,'Activating natural killer (NK) receptor that recognizes C2 epitopes of HLA-C alleles. Bridging the innate and adaptive immune systems, NK cells express a number of cell surface receptors which either inhibit or stimulate their cytotoxicity (PubMed:28685972, PubMed:18624290, PubMed:18682925). Able to activate NK cells citotoxicity and cytokine production such as IFNG (PubMed:18624290, PubMed:24269691). Receptor functions are attenuated even lost in some alleles, such as KIR2DS5*002 reprensented in this entry (PubMed:28685972).',NULL,NULL,NULL,NULL,NULL),(9341,'UniProt Function',NULL,11216,NULL,'Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus preventing cell lysis.',NULL,NULL,NULL,NULL,NULL),(9342,'UniProt Function',NULL,11217,NULL,'May be a SFC-associated serine kinase (splicing factor compartment-associated serine kinase) with a role in intranuclear SR protein (non-snRNP splicing factors containing a serine/arginine-rich domain) trafficking and pre-mRNA processing.',NULL,NULL,NULL,NULL,NULL),(9343,'UniProt Function',NULL,11218,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9344,'UniProt Function',NULL,11219,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9345,'UniProt Function',NULL,11220,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9346,'UniProt Function',NULL,11221,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9347,'UniProt Function',NULL,11222,NULL,'Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6, which may ensure the correct organization and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of the establishment of epithelial cell polarity.',NULL,NULL,NULL,NULL,NULL),(9348,'UniProt Function',NULL,11223,NULL,'Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.',NULL,NULL,NULL,NULL,NULL),(9349,'UniProt Function',NULL,11223,NULL,'Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK and p80, (3) differentiation of keratinocytes.',NULL,NULL,NULL,NULL,NULL),(9350,'UniProt Function',NULL,11224,NULL,'Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.',NULL,NULL,NULL,NULL,NULL),(9351,'UniProt Function',NULL,11225,NULL,'May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. Plays an important role, together with LMNA, in the nuclear anchorage of RB1.',NULL,NULL,NULL,NULL,NULL),(9352,'UniProt Function',NULL,11225,NULL,'TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.',NULL,NULL,NULL,NULL,NULL),(9353,'UniProt Function',NULL,11227,NULL,'Binds all-trans retinoic acid and may act as a retinoid carrier protein within the epididymis. May play a role in male fertility (By similarity).',NULL,NULL,NULL,NULL,NULL),(9354,'UniProt Function',NULL,11228,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(9355,'UniProt Function',NULL,11229,NULL,'Could play a role in taste reception. Could be necessary for the concentration and delivery of sapid molecules in the gustatory system. Can bind various ligands, with chemical structures ranging from lipids and retinoids to the macrocyclic antibiotic rifampicin and even to microbial siderophores. Exhibits an extremely wide ligand pocket.',NULL,NULL,NULL,NULL,NULL),(9356,'UniProt Function',NULL,11230,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(9357,'UniProt Function',NULL,11231,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(9358,'UniProt Function',NULL,11232,NULL,'Binds to the LIM domain of a wide variety of LIM domain-containing transcription factors.',NULL,NULL,NULL,NULL,NULL),(9359,'UniProt Function',NULL,11233,NULL,'Displays an lactate dehydrogenase activity. Significantly increases the transcriptional activity of JUN, when overexpressed.',NULL,NULL,NULL,NULL,NULL),(9360,'UniProt Function',NULL,11234,NULL,'This protein binds beta-galactoside. Its physiological function is not yet known.',NULL,NULL,NULL,NULL,NULL),(9361,'UniProt Function',NULL,11235,NULL,'Galactose-specific lectin which binds IgE. May mediate with the alpha-3, beta-1 integrin the stimulation by CSPG4 of endothelial cells migration. Together with DMBT1, required for terminal differentiation of columnar epithelial cells during early embryogenesis (By similarity). In the nucleus: acts as a pre-mRNA splicing factor. Involved in acute inflammatory responses including neutrophil activation and adhesion, chemoattraction of monocytes macrophages, opsonization of apoptotic neutrophils, and activation of mast cells. Together with TRIM16, coordinates the recognition of membrane damage with mobilization of the core autophagy regulators ATG16L1 and BECN1 in response to damaged endomembranes.',NULL,NULL,NULL,NULL,NULL),(9362,'UniProt Function',NULL,11236,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9363,'UniProt Function',NULL,11237,NULL,'Calcium- and diacylglycerol-independent serine/threonine-protein kinase that functions in phosphatidylinositol 3-kinase (PI3K) pathway and mitogen-activated protein (MAP) kinase cascade, and is involved in NF-kappa-B activation, mitogenic signaling, cell proliferation, cell polarity, inflammatory response and maintenance of long-term potentiation (LTP). Upon lipopolysaccharide (LPS) treatment in macrophages, or following mitogenic stimuli, functions downstream of PI3K to activate MAP2K1/MEK1-MAPK1/ERK2 signaling cascade independently of RAF1 activation. Required for insulin-dependent activation of AKT3, but may function as an adapter rather than a direct activator. Upon insulin treatment may act as a downstream effector of PI3K and contribute to the activation of translocation of the glucose transporter SLC2A4/GLUT4 and subsequent glucose transport in adipocytes. In EGF-induced cells, binds and activates MAP2K5/MEK5-MAPK7/ERK5 independently of its kinase activity and can activate JUN promoter through MEF2C. Through binding with SQSTM1/p62, functions in interleukin-1 signaling and activation of NF-kappa-B with the specific adapters RIPK1 and TRAF6. Participates in TNF-dependent transactivation of NF-kappa-B by phosphorylating and activating IKBKB kinase, which in turn leads to the degradation of NF-kappa-B inhibitors. In migrating astrocytes, forms a cytoplasmic complex with PARD6A and is recruited by CDC42 to function in the establishment of cell polarity along with the microtubule motor and dynein. In association with FEZ1, stimulates neuronal differentiation in PC12 cells. In the inflammatory response, is required for the T-helper 2 (Th2) differentiation process, including interleukin production, efficient activation of JAK1 and the subsequent phosphorylation and nuclear translocation of STAT6. May be involved in development of allergic airway inflammation (asthma), a process dependent on Th2 immune response. In the NF-kappa-B-mediated inflammatory response, can relieve SETD6-dependent repression of NF-kappa-B target genes by phosphorylating the RELA subunit at \'Ser-311\'. In vein endothelial cells treated with the oxidant peroxynitrite, phosphorylates STK11 leading to nuclear export of STK11, subsequent inhibition of PI3K/Akt signaling, and increased apoptosis. Phosphorylates VAMP2 in vitro (PubMed:17313651).',NULL,NULL,NULL,NULL,NULL),(9364,'UniProt Function',NULL,11237,NULL,'Isoform 2: Involved in late synaptic long term potention phase in CA1 hippocampal cells and long term memory maintenance.',NULL,NULL,NULL,NULL,NULL),(9365,'UniProt Function',NULL,11238,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9366,'UniProt Function',NULL,11239,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9367,'UniProt Function',NULL,11240,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9368,'UniProt Function',NULL,11241,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9369,'UniProt Function',NULL,11242,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9370,'UniProt Function',NULL,11243,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9371,'UniProt Function',NULL,11244,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9372,'UniProt Function',NULL,11245,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9373,'UniProt Function',NULL,11246,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9374,'UniProt Function',NULL,11247,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9375,'UniProt Function',NULL,11248,NULL,'Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and vascular lumen and these effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction, and cell junction stabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interaction between ITGB1 and ITGB1BP1. Microtubule-associated protein that binds to phosphatidylinositol 4,5-bisphosphate (PIP2)-containing membranes in a GTP-bound RAP1-dependent manner. Plays an important role in the maintenance of the intracellular reactive oxygen species (ROS) homeostasis to prevent oxidative cellular damage. Regulates the homeostasis of intracellular ROS through an antioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required for cell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS through the modulation of FOXO1 and SOD2 levels.',NULL,NULL,NULL,NULL,NULL),(9376,'UniProt Function',NULL,11249,NULL,'Glycolytic enzyme that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate (PEP) to ADP, generating ATP. Stimulates POU5F1-mediated transcriptional activation. Plays a general role in caspase independent cell death of tumor cells. The ratio between the highly active tetrameric form and nearly inactive dimeric form determines whether glucose carbons are channeled to biosynthetic processes or used for glycolytic ATP production. The transition between the 2 forms contributes to the control of glycolysis and is important for tumor cell proliferation and survival.',NULL,NULL,NULL,NULL,NULL),(9377,'UniProt Function',NULL,11250,NULL,'Plays a key role in glycolysis.',NULL,NULL,NULL,NULL,NULL),(9378,'UniProt Function',NULL,11252,NULL,'Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. In the absence of DKK1, potentiates Wnt-beta-catenin signaling by maintaining LRP5 or LRP6 at the cell membrane. Can trigger apoptosis in a Wnt-independent manner and this apoptotic activity is inhibited upon binding of the ligand DKK1. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation. Modulates cell fate decisions in the developing cochlea with an inhibitory role in hair cell fate specification.',NULL,NULL,NULL,NULL,NULL),(9379,'UniProt Function',NULL,11253,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9380,'UniProt Function',NULL,11254,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9381,'UniProt Function',NULL,11255,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9382,'UniProt Function',NULL,11257,NULL,'Serine/threonine-protein kinase that acts downstream of mTOR signaling in response to growth factors and nutrients to promote cell proliferation, cell growth and cell cycle progression. Regulates protein synthesis through phosphorylation of EIF4B, RPS6 and EEF2K, and contributes to cell survival by repressing the pro-apoptotic function of BAD. Under conditions of nutrient depletion, the inactive form associates with the EIF3 translation initiation complex. Upon mitogenic stimulation, phosphorylation by the mammalian target of rapamycin complex 1 (mTORC1) leads to dissociation from the EIF3 complex and activation. The active form then phosphorylates and activates several substrates in the pre-initiation complex, including the EIF2B complex and the cap-binding complex component EIF4B. Also controls translation initiation by phosphorylating a negative regulator of EIF4A, PDCD4, targeting it for ubiquitination and subsequent proteolysis. Promotes initiation of the pioneer round of protein synthesis by phosphorylating POLDIP3/SKAR. In response to IGF1, activates translation elongation by phosphorylating EEF2 kinase (EEF2K), which leads to its inhibition and thus activation of EEF2. Also plays a role in feedback regulation of mTORC2 by mTORC1 by phosphorylating RICTOR, resulting in the inhibition of mTORC2 and AKT1 signaling. Mediates cell survival by phosphorylating the pro-apoptotic protein BAD and suppressing its pro-apoptotic function. Phosphorylates mitochondrial URI1 leading to dissociation of a URI1-PPP1CC complex. The free mitochondrial PPP1CC can then dephosphorylate RPS6KB1 at Thr-412, which is proposed to be a negative feedback mechanism for the RPS6KB1 anti-apoptotic function. Mediates TNF-alpha-induced insulin resistance by phosphorylating IRS1 at multiple serine residues, resulting in accelerated degradation of IRS1. In cells lacking functional TSC1-2 complex, constitutively phosphorylates and inhibits GSK3B. May be involved in cytoskeletal rearrangement through binding to neurabin. Phosphorylates and activates the pyrimidine biosynthesis enzyme CAD, downstream of MTOR (PubMed:11500364, PubMed:12801526, PubMed:14673156, PubMed:15071500, PubMed:15341740, PubMed:16286006, PubMed:17052453, PubMed:17053147, PubMed:17936702, PubMed:18952604, PubMed:19085255, PubMed:19720745, PubMed:19935711, PubMed:19995915, PubMed:23429703). Following activation by mTORC1, phosphorylates EPRS and thereby plays a key role in fatty acid uptake by adipocytes and also most probably in interferon-gamma-induced translation inhibition (PubMed:28178239).',NULL,NULL,NULL,NULL,NULL),(9383,'UniProt Function',NULL,11258,NULL,'Serine/threonine kinase which acts as a negative regulator of Ras-related Rap2-mediated signal transduction to control neuronal structure and AMPA receptor trafficking. Required for normal synaptic density, dendrite complexity, as well as surface AMPA receptor expression in hippocampal neurons. Can activate the JNK and MAPK14/p38 pathways and mediates stimulation of the stress-activated protein kinase MAPK14/p38 MAPK downstream of the Raf/ERK pathway. Phosphorylates: TANC1 upon stimulation by RAP2A, MBP and SMAD1. Has an essential function in negative selection of thymocytes, perhaps by coupling NCK1 to activation of JNK1.',NULL,NULL,NULL,NULL,NULL),(9384,'UniProt Function',NULL,11258,NULL,'Isoform 4 can activate the JNK pathway. Involved in the regulation of actin cytoskeleton reorganization, cell-matrix adhesion, cell-cell adhesion and cell migration.',NULL,NULL,NULL,NULL,NULL),(9385,'UniProt Function',NULL,11259,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9386,'UniProt Function',NULL,11260,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9387,'UniProt Function',NULL,11261,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9388,'UniProt Function',NULL,11262,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9389,'UniProt Function',NULL,11263,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9390,'UniProt Function',NULL,11264,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9391,'UniProt Function',NULL,11265,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9392,'UniProt Function',NULL,11266,NULL,'Serine/threonine-protein kinase that phosphorylates SFPQ/PSF, HNRNPA1 and EIF4E. May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap. Required for mediating PP2A-inhibition-induced EIF4E phosphorylation. Triggers EIF4E shuttling from cytoplasm to nucleus. Isoform 1 displays a high basal kinase activity, but isoform 2 exhibits a very low kinase activity. Acts as a mediator of the suppressive effects of IFNgamma on hematopoiesis. Negative regulator for signals that control generation of arsenic trioxide As(2)O(3)-dependent apoptosis and anti-leukemic responses. Involved in anti-apoptotic signaling in response to serum withdrawal.',NULL,NULL,NULL,NULL,NULL),(9393,'UniProt Function',NULL,11267,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9394,'UniProt Function',NULL,11268,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9395,'UniProt Function',NULL,11269,NULL,'Endopeptidase that degrades various components of the extracellular matrix, such as aggrecan and cartilage oligomeric matrix protein (comp), during development, haemostasis and pathological conditions (arthritic disease). May also play a role in neovascularization or angiogenesis. Hydrolyzes collagen type IV, laminin, nidogen, nascin-C isoform, fibronectin, and type I gelatin.',NULL,NULL,NULL,NULL,NULL),(9396,'UniProt Function',NULL,11270,NULL,'Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X (PubMed:2557822, PubMed:2153297, PubMed:1645757). In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tat\'s mediated neurotoxicity (PubMed:16807369).',NULL,NULL,NULL,NULL,NULL),(9397,'UniProt Function',NULL,11272,NULL,'May activate progelatinase A.',NULL,NULL,NULL,NULL,NULL),(9398,'UniProt Function',NULL,11274,NULL,'Matrix metalloproteinases degrade protein components of the extracellular matrix such as fibronectin, laminin, gelatins and/or collagens.',NULL,NULL,NULL,NULL,NULL),(9399,'UniProt Function',NULL,11275,NULL,'Presents carbohydrate ligands to selectins. Also implicated in tumor cell metastasis.',NULL,NULL,NULL,NULL,NULL),(9400,'UniProt Function',NULL,11275,NULL,'Acts as a receptor for Lassa virus protein.',NULL,NULL,NULL,NULL,NULL),(9401,'UniProt Function',NULL,11276,NULL,'RNA binding protein that binds to the poly-A tract of mRNA molecules (PubMed:21098120). Associates with the 40S ribosomal subunit and with polysomes (PubMed:21098120). Plays a role in the regulation of mRNA translation (PubMed:21098120). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987, PubMed:27615744).',NULL,NULL,NULL,NULL,NULL),(9402,'UniProt Function',NULL,11277,NULL,'Plays an important role in chaperone-mediated autophagy, a process that mediates lysosomal degradation of proteins in response to various stresses and as part of the normal turnover of proteins with a long biological half-live (PubMed:8662539, PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032). Functions by binding target proteins, such as GAPDH and MLLT11, and targeting them for lysosomal degradation (PubMed:8662539, PubMed:11082038, PubMed:18644871, PubMed:24880125). Plays a role in lysosomal protein degradation in response to starvation (By similarity). Required for the fusion of autophagosomes with lysosomes during autophagy (PubMed:27628032). Cells that lack LAMP2 express normal levels of VAMP8, but fail to accumulate STX17 on autophagosomes, which is the most likely explanation for the lack of fusion between autophagosomes and lysosomes (PubMed:27628032). Required for normal degradation of the contents of autophagosomes (PubMed:27628032). Required for efficient MHCII-mediated presentation of exogenous antigens via its function in lysosomal protein degradation; antigenic peptides generated by proteases in the endosomal/lysosomal compartment are captured by nascent MHCII subunits (PubMed:20518820). Is not required for efficient MHCII-mediated presentation of endogenous antigens (PubMed:20518820).',NULL,NULL,NULL,NULL,NULL),(9403,'UniProt Function',NULL,11277,NULL,'Isoform LAMP-2C: Modulates chaperone-mediated autophagy. Decreases presentation of endogenous antigens by MHCII. Does not play a role in the presentation of exogenous and membrane-derived antigens by MHCII.',NULL,NULL,NULL,NULL,NULL),(9404,'UniProt Function',NULL,11278,NULL,'Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Acts as a tumor suppressor which plays a critical role in maintenance of ploidy through its actions in both mitotic progression and the G1 tetraploidy checkpoint. Negatively regulates G2/M transition by down-regulating CDK1 kinase activity. Involved in the control of p53 expression. Affects cytokinesis by regulating actin polymerization through negative modulation of LIMK1. May also play a role in endocrine function. Plays a role in mammary gland epithelial cells differentiation, both through the Hippo signaling pathway and the intracellular estrogen receptor signaling pathway by promoting the degradation of ESR1 (PubMed:28068668).',NULL,NULL,NULL,NULL,NULL),(9405,'UniProt Function',NULL,11279,NULL,'Plays an important role in the regulation of dynamic actin-based, cytoskeletal activities. Agonist-dependent changes in LASP1 phosphorylation may also serve to regulate actin-associated ion transport activities, not only in the parietal cell but also in certain other F-actin-rich secretory epithelial cell types (By similarity).',NULL,NULL,NULL,NULL,NULL),(9406,'UniProt Function',NULL,11280,NULL,'Degrades casein, gelatins of types I, III, IV, and V, and fibronectin. Activates procollagenase.',NULL,NULL,NULL,NULL,NULL),(9407,'UniProt Function',NULL,11281,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(9408,'UniProt Function',NULL,11282,NULL,'Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS).',NULL,NULL,NULL,NULL,NULL),(9409,'UniProt Function',NULL,11283,NULL,'Essential for recycling GMP and indirectly, cGMP.',NULL,NULL,NULL,NULL,NULL),(9410,'UniProt Function',NULL,11284,NULL,'Crucial regulator of intestinal secretion and bone growth (By similarity). Phosphorylates and activates CFTR on the plasma membrane. Plays a key role in intestinal secretion by regulating cGMP-dependent translocation of CFTR in jejunum (By similarity). Acts downstream of NMDAR to activate the plasma membrane accumulation of GRIA1/GLUR1 in synapse and increase synaptic plasticity. Phosphorylates GRIA1/GLUR1 at Ser-863 (By similarity). Acts as regulator of gene expression and activator of the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2 in mechanically stimulated osteoblasts. Under fluid shear stress, mediates ERK activation and subsequent induction of FOS, FOSL1/FRA1, FOSL2/FRA2 and FOSB that play a key role in the osteoblast anabolic response to mechanical stimulation (By similarity).',NULL,NULL,NULL,NULL,NULL),(9411,'UniProt Function',NULL,11285,NULL,'RNA-binding protein involved in pre-mRNA splicing (PubMed:19641227). Interacts with the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome (PubMed:19641227). Involved in regulating splice site selection (PubMed:19641227). Binds preferentially RNA with A/C rich sequences and poly-C stretches (PubMed:23144703).',NULL,NULL,NULL,NULL,NULL),(9412,'UniProt Function',NULL,11287,NULL,'Involved in reorganization of the cortical cytoskeleton. Regulates axon formation by promoting the formation of extra axons. May be functionally important for the intracellular trafficking of MAGUKs and associated protein complexes.',NULL,NULL,NULL,NULL,NULL),(9413,'UniProt Function',NULL,11288,NULL,'Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells.',NULL,NULL,NULL,NULL,NULL),(9414,'UniProt Function',NULL,11289,NULL,'Plus end-directed microtubule-dependent motor protein that regulates the length of motile cilia by mediating depolymerization of microtubules at ciliary tips.',NULL,NULL,NULL,NULL,NULL),(9415,'UniProt Function',NULL,11290,NULL,'In complex with KIF18B, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells (PubMed:21820309). Regulates the turnover of microtubules at the kinetochore and functions in chromosome segregation during mitosis (PubMed:19060894). Plays a role in chromosome congression and is required for the lateral to end-on conversion of the chromosome-microtubule attachment (PubMed:23891108).',NULL,NULL,NULL,NULL,NULL),(9416,'UniProt Function',NULL,11291,NULL,'Motor for anterograde axonal transport of synaptic vesicle precursors.',NULL,NULL,NULL,NULL,NULL),(9417,'UniProt Function',NULL,11292,NULL,'Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with NF2 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. Acts as a transcriptional coactivator of ESR1 which plays an essential role in DYNLL1-mediated ESR1 transactivation. Regulates collagen-stimulated activation of the ERK/MAPK cascade. Modulates directional migration of podocytes. Acts as a substrate for PRKCZ. Plays a role in cognition and memory performance.',NULL,NULL,NULL,NULL,NULL),(9418,'UniProt Function',NULL,11293,NULL,'Microtubule-based anterograde translocator for membranous organelles.',NULL,NULL,NULL,NULL,NULL),(9419,'UniProt Function',NULL,11294,NULL,'Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA (By similarity). Plays a role in congression of laterally attached chromosomes in NDC80-depleted cells (PubMed:25743205).',NULL,NULL,NULL,NULL,NULL),(9420,'UniProt Function',NULL,11295,NULL,'Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation.',NULL,NULL,NULL,NULL,NULL),(9421,'UniProt Function',NULL,11296,NULL,'Microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by mediating recruitment of CCP110 to mother centriole in cycling cells, leading to restrict nucleation of cilia at centrioles. Mediates depolymerization of microtubules of centriolar origin, possibly to suppress aberrant cilia formation (PubMed:21620453). Following activation by NEK2 involved in disassembly of primary cilium during G2/M phase but does not disassemble fully formed ciliary axonemes. As cilium assembly and disassembly is proposed to coexist in a dynamic equilibrium may suppress nascent cilium assembly and, potentially, ciliar re-assembly in cells that have already disassembled their cilia ensuring the completion of cilium removal in the later stages of the cell cycle (PubMed:26290419).',NULL,NULL,NULL,NULL,NULL),(9422,'UniProt Function',NULL,11297,NULL,'Microtubule-dependent motor protein required for mitochondrion morhology and transport of mitochondria in neuronal cells.',NULL,NULL,NULL,NULL,NULL),(9423,'UniProt Function',NULL,11300,NULL,'Plus end-directed microtubule-dependent motor required for spindle assembly and chromosome movement. Has microtubule depolymerization activity (PubMed:17538014). Plays a role in chromosome congression (PubMed:23891108).',NULL,NULL,NULL,NULL,NULL),(9424,'UniProt Function',NULL,11301,NULL,'Involved in DNA replication and the cellular response to DNA damage. May participate in DNA replication factories and create a bridge between DNA replication and repair mediated by high molecular weight complexes. May play a role in illegitimate recombination and regulation of gene expression. May participate in mRNA processing. Binds, in vitro, to double-stranded DNA. Also shown to bind preferentially to curved DNA in vitro and in vivo (By similarity). Binds via its C-terminal domain to RNA in vitro.',NULL,NULL,NULL,NULL,NULL),(9425,'UniProt Function',NULL,11302,NULL,'May play a role in microtubule-dependent retrograde axonal transport. May function as the motor for the transport of multivesicular body (MVB)-like organelles in dendrites (By similarity).',NULL,NULL,NULL,NULL,NULL),(9426,'UniProt Function',NULL,11303,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron (PubMed:14528312, PubMed:22406640, PubMed:23387299, PubMed:23453970, PubMed:23576762, PubMed:23665031). The BCR(KLHL3) complex acts by mediating ubiquitination of WNK4, an inhibitor of potassium channel KCNJ1, leading to WNK4 degradation (PubMed:23387299, PubMed:23453970, PubMed:23576762, PubMed:23665031). The BCR(KLHL3) complex also mediates ubiquitination and degradation of CLDN8, a tight-junction protein required for paracellular chloride transport in the kidney (By similarity).',NULL,NULL,NULL,NULL,NULL),(9427,'UniProt Function',NULL,11304,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates \'Lys-48\'-linked ubiquitination.',NULL,NULL,NULL,NULL,NULL),(9428,'UniProt Function',NULL,11305,NULL,'Has a tumor-suppressor role for NES1 in breast and prostate cancer.',NULL,NULL,NULL,NULL,NULL),(9429,'UniProt Function',NULL,11306,NULL,'Possible multifunctional protease. Efficiently cleaves \'bz-Phe-Arg-4-methylcoumaryl-7-amide\', a kallikrein substrate, and weakly cleaves other substrates for kallikrein and trypsin. Cleaves synthetic peptides after arginine but not lysine residues.',NULL,NULL,NULL,NULL,NULL),(9430,'UniProt Function',NULL,11308,NULL,'Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.',NULL,NULL,NULL,NULL,NULL),(9431,'UniProt Function',NULL,11309,NULL,'May catalyze the degradation of intercellular cohesive structures in the cornified layer of the skin in the continuous shedding of cells from the skin surface. Specific for amino acid residues with aromatic side chains in the P1 position. Cleaves insulin A chain at \'14-Tyr-|-Gln-15\' and insulin B chain at \'6-Leu-|-Cys-7\', \'16-Tyr-|-Leu-17\', \'25-Phe-|-Tyr-26\' and \'26-Tyr-|-Thr-27\'. Could play a role in the activation of precursors to inflammatory cytokines.',NULL,NULL,NULL,NULL,NULL),(9432,'UniProt Function',NULL,11310,NULL,'Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn) (PubMed:29429898, PubMed:23575632, PubMed:26752518, PubMed:28604669, PubMed:29208702). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract (Probable).',NULL,NULL,NULL,NULL,NULL),(9433,'UniProt Function',NULL,11311,NULL,'Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore.',NULL,NULL,NULL,NULL,NULL),(9434,'UniProt Function',NULL,11312,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9435,'UniProt Function',NULL,11313,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9436,'UniProt Function',NULL,11314,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9437,'UniProt Function',NULL,11315,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9438,'UniProt Function',NULL,11316,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9439,'UniProt Function',NULL,11317,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9440,'UniProt Function',NULL,11318,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9441,'UniProt Function',NULL,11319,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9442,'UniProt Function',NULL,11320,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9443,'UniProt Function',NULL,11321,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9444,'UniProt Function',NULL,11322,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9445,'UniProt Function',NULL,11323,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9446,'UniProt Function',NULL,11324,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9447,'UniProt Function',NULL,11327,NULL,'Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but acting as an anti-apoptotic protein during cytokine receptor-initiated cell death, is involved in tumor suppression as well as survival of several cancers, is required for oxygen radical production by NADPH oxidase and acts as positive or negative regulator in platelet functional responses. Negatively regulates B cell proliferation and also has an important function in self-antigen induced B cell tolerance induction. Upon DNA damage, activates the promoter of the death-promoting transcription factor BCLAF1/Btf to trigger BCLAF1-mediated p53/TP53 gene transcription and apoptosis. In response to oxidative stress, interact with and activate CHUK/IKKA in the nucleus, causing the phosphorylation of p53/TP53. In the case of ER stress or DNA damage-induced apoptosis, can form a complex with the tyrosine-protein kinase ABL1 which trigger apoptosis independently of p53/TP53. In cytosol can trigger apoptosis by activating MAPK11 or MAPK14, inhibiting AKT1 and decreasing the level of X-linked inhibitor of apoptosis protein (XIAP), whereas in nucleus induces apoptosis via the activation of MAPK8 or MAPK9. Upon ionizing radiation treatment, is required for the activation of the apoptosis regulators BAX and BAK, which trigger the mitochondrial cell death pathway. Can phosphorylate MCL1 and target it for degradation which is sufficient to trigger for BAX activation and apoptosis. Is required for the control of cell cycle progression both at G1/S and G2/M phases. Mediates phorbol 12-myristate 13-acetate (PMA)-induced inhibition of cell cycle progression at G1/S phase by up-regulating the CDK inhibitor CDKN1A/p21 and inhibiting the cyclin CCNA2 promoter activity. In response to UV irradiation can phosphorylate CDK1, which is important for the G2/M DNA damage checkpoint activation. Can protect glioma cells from the apoptosis induced by TNFSF10/TRAIL, probably by inducing increased phosphorylation and subsequent activation of AKT1. Is highly expressed in a number of cancer cells and promotes cell survival and resistance against chemotherapeutic drugs by inducing cyclin D1 (CCND1) and hyperphosphorylation of RB1, and via several pro-survival pathways, including NF-kappa-B, AKT1 and MAPK1/3 (ERK1/2). Can also act as tumor suppressor upon mitogenic stimulation with PMA or TPA. In N-formyl-methionyl-leucyl-phenylalanine (fMLP)-treated cells, is required for NCF1 (p47-phox) phosphorylation and activation of NADPH oxidase activity, and regulates TNF-elicited superoxide anion production in neutrophils, by direct phosphorylation and activation of NCF1 or indirectly through MAPK1/3 (ERK1/2) signaling pathways. May also play a role in the regulation of NADPH oxidase activity in eosinophil after stimulation with IL5, leukotriene B4 or PMA. In collagen-induced platelet aggregation, acts a negative regulator of filopodia formation and actin polymerization by interacting with and negatively regulating VASP phosphorylation. Downstream of PAR1, PAR4 and CD36/GP4 receptors, regulates differentially platelet dense granule secretion; acts as a positive regulator in PAR-mediated granule secretion, whereas it negatively regulates CD36/GP4-mediated granule release. Phosphorylates MUC1 in the C-terminal and regulates the interaction between MUC1 and beta-catenin. The catalytic subunit phosphorylates 14-3-3 proteins (YWHAB, YWHAZ and YWHAH) in a sphingosine-dependent fashion (By similarity). Phosphorylates ELAVL1 in response to angiotensin-2 treatment (PubMed:18285462).',NULL,NULL,NULL,NULL,NULL),(9448,'UniProt Function',NULL,11328,NULL,'Required for 40S ribosome biogenesis. Involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(9449,'UniProt Function',NULL,11329,NULL,'Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1, which results in the subsequent transcriptional activation of several immediate-early genes. In response to mitogenic stimulation (EGF and PMA), phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP. Upon insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at \'Ser-9\' and inhibiting its activity. Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism and promotes translation initiation by facilitating assembly of the pre-initiation complex. In response to insulin, phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation. Is involved in the mTOR nutrient-sensing pathway by directly phosphorylating TSC2 at \'Ser-1798\', which potently inhibits TSC2 ability to suppress mTOR signaling, and mediates phosphorylation of RPTOR, which regulates mTORC1 activity and may promote rapamycin-sensitive signaling independently of the PI3K/AKT pathway. Mediates cell survival by phosphorylating the pro-apoptotic proteins BAD and DAPK1 and suppressing their pro-apoptotic function. Promotes the survival of hepatic stellate cells by phosphorylating CEBPB in response to the hepatotoxin carbon tetrachloride (CCl4). Mediates induction of hepatocyte prolifration by TGFA through phosphorylation of CEBPB (By similarity). Is involved in cell cycle regulation by phosphorylating the CDK inhibitor CDKN1B, which promotes CDKN1B association with 14-3-3 proteins and prevents its translocation to the nucleus and inhibition of G1 progression. Phosphorylates EPHA2 at \'Ser-897\', the RPS6KA-EPHA2 signaling pathway controls cell migration (PubMed:26158630).',NULL,NULL,NULL,NULL,NULL),(9450,'UniProt Function',NULL,11331,NULL,'Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of transcription factors, regulates translation, and mediates cellular proliferation, survival, and differentiation. May function as tumor suppressor in epithelial ovarian cancer cells.',NULL,NULL,NULL,NULL,NULL),(9451,'UniProt Function',NULL,11333,NULL,'Non-receptor tyrosine kinase which mediates signal transduction downstream of a variety of transmembrane receptors including classical immunoreceptors like the B-cell receptor (BCR). Regulates several biological processes including innate and adaptive immunity, cell adhesion, osteoclast maturation, platelet activation and vascular development. Assembles into signaling complexes with activated receptors at the plasma membrane via interaction between its SH2 domains and the receptor tyrosine-phosphorylated ITAM domains. The association with the receptor can also be indirect and mediated by adapter proteins containing ITAM or partial hemITAM domains. The phosphorylation of the ITAM domains is generally mediated by SRC subfamily kinases upon engagement of the receptor. More rarely signal transduction via SYK could be ITAM-independent. Direct downstream effectors phosphorylated by SYK include VAV1, PLCG1, PI-3-kinase, LCP2 and BLNK. Initially identified as essential in B-cell receptor (BCR) signaling, it is necessary for the maturation of B-cells most probably at the pro-B to pre-B transition. Activated upon BCR engagement, it phosphorylates and activates BLNK an adapter linking the activated BCR to downstream signaling adapters and effectors. It also phosphorylates and activates PLCG1 and the PKC signaling pathway. It also phosphorylates BTK and regulates its activity in B-cell antigen receptor (BCR)-coupled signaling. In addition to its function downstream of BCR plays also a role in T-cell receptor signaling. Plays also a crucial role in the innate immune response to fungal, bacterial and viral pathogens. It is for instance activated by the membrane lectin CLEC7A. Upon stimulation by fungal proteins, CLEC7A together with SYK activates immune cells inducing the production of ROS. Also activates the inflammasome and NF-kappa-B-mediated transcription of chemokines and cytokines in presence of pathogens. Regulates neutrophil degranulation and phagocytosis through activation of the MAPK signaling cascade. Also mediates the activation of dendritic cells by cell necrosis stimuli. Also involved in mast cells activation. Involved in interleukin-3/IL3-mediated signaling pathway in basophils (By similarity). Also functions downstream of receptors mediating cell adhesion. Relays for instance, integrin-mediated neutrophils and macrophages activation and P-selectin receptor/SELPG-mediated recruitment of leukocytes to inflammatory loci. Plays also a role in non-immune processes. It is for instance involved in vascular development where it may regulate blood and lymphatic vascular separation. It is also required for osteoclast development and function. Functions in the activation of platelets by collagen, mediating PLCG2 phosphorylation and activation. May be coupled to the collagen receptor by the ITAM domain-containing FCER1G. Also activated by the membrane lectin CLEC1B that is required for activation of platelets by PDPN/podoplanin. Involved in platelet adhesion being activated by ITGB3 engaged by fibrinogen. Together with CEACAM20, enhances production of the cytokine CXCL8/IL-8 via the NFKB pathway and may thus have a role in the intestinal immune response (By similarity).',NULL,NULL,NULL,NULL,NULL),(9452,'UniProt Function',NULL,11335,NULL,'(1) Kininogens are inhibitors of thiol proteases; (2) HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptide bradykinin that is released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level, (4E) it is a mediator of inflammation and causes (4E1) increase in vascular permeability, (4E2) stimulation of nociceptors (4E3) release of other mediators of inflammation (e.g. prostaglandins), (4F) it has a cardioprotective effect (directly via bradykinin action, indirectly via endothelium-derived relaxing factor action); (5) LMW-kininogen inhibits the aggregation of thrombocytes; (6) LMW-kininogen is in contrast to HMW-kininogen not involved in blood clotting.',NULL,NULL,NULL,NULL,NULL),(9453,'UniProt Function',NULL,11337,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9454,'UniProt Function',NULL,11338,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9455,'UniProt Function',NULL,11339,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9456,'UniProt Function',NULL,11340,NULL,'Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase involved in various cellular processes such as regulation of the B-cell receptor (BCR) signalosome, oxidative stress-induced apoptosis, androgen receptor-dependent transcription regulation, insulin signaling and endothelial cells proliferation. Plays a key role in B-cell activation by regulating BCR-induced NF-kappa-B activation. Mediates the activation of the canonical NF-kappa-B pathway (NFKB1) by direct phosphorylation of CARD11/CARMA1 at \'Ser-559\', \'Ser-644\' and \'Ser-652\'. Phosphorylation induces CARD11/CARMA1 association with lipid rafts and recruitment of the BCL10-MALT1 complex as well as MAP3K7/TAK1, which then activates IKK complex, resulting in nuclear translocation and activation of NFKB1. Plays a direct role in the negative feedback regulation of the BCR signaling, by down-modulating BTK function via direct phosphorylation of BTK at \'Ser-180\', which results in the alteration of BTK plasma membrane localization and in turn inhibition of BTK activity. Involved in apoptosis following oxidative damage: in case of oxidative conditions, specifically phosphorylates \'Ser-36\' of isoform p66Shc of SHC1, leading to mitochondrial accumulation of p66Shc, where p66Shc acts as a reactive oxygen species producer. Acts as a coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and specifically mediating phosphorylation of \'Thr-6\' of histone H3 (H3T6ph), a specific tag for epigenetic transcriptional activation that prevents demethylation of histone H3 \'Lys-4\' (H3K4me) by LSD1/KDM1A. In insulin signaling, may function downstream of IRS1 in muscle cells and mediate insulin-dependent DNA synthesis through the RAF1-MAPK/ERK signaling cascade. May participate in the regulation of glucose transport in adipocytes by negatively modulating the insulin-stimulated translocation of the glucose transporter SLC2A4/GLUT4. Under high glucose in pancreatic beta-cells, is probably involved in the inhibition of the insulin gene transcription, via regulation of MYC expression. In endothelial cells, activation of PRKCB induces increased phosphorylation of RB1, increased VEGFA-induced cell proliferation, and inhibits PI3K/AKT-dependent nitric oxide synthase (NOS3/eNOS) regulation by insulin, which causes endothelial dysfunction. Also involved in triglyceride homeostasis (By similarity). Phosphorylates ATF2 which promotes cooperation between ATF2 and JUN, activating transcription.',NULL,NULL,NULL,NULL,NULL),(9457,'UniProt Function',NULL,11341,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9458,'UniProt Function',NULL,11342,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9459,'UniProt Function',NULL,11343,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9460,'UniProt Function',NULL,11344,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9461,'UniProt Function',NULL,11345,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9462,'UniProt Function',NULL,11347,NULL,'Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of cell proliferation via MAPK1/3 (ERK1/2) signaling, oxidative stress-induced NF-kappa-B activation, inhibition of HDAC7 transcriptional repression, signaling downstream of T-cell antigen receptor (TCR) and cytokine production, and plays a role in Golgi membrane trafficking, angiogenesis, secretory granule release and cell adhesion (PubMed:15604256, PubMed:14743217, PubMed:17077180, PubMed:16928771, PubMed:17962809, PubMed:17951978, PubMed:18262756, PubMed:19192391, PubMed:19001381, PubMed:23503467, PubMed:28428613). May potentiate mitogenesis induced by the neuropeptide bombesin by mediating an increase in the duration of MAPK1/3 (ERK1/2) signaling, which leads to accumulation of immediate-early gene products including FOS that stimulate cell cycle progression (By similarity). In response to oxidative stress, is phosphorylated at Tyr-438 and Tyr-717 by ABL1, which leads to the activation of PRKD2 without increasing its catalytic activity, and mediates activation of NF-kappa-B (PubMed:15604256, PubMed:28428613). In response to the activation of the gastrin receptor CCKBR, is phosphorylated at Ser-244 by CSNK1D and CSNK1E, translocates to the nucleus, phosphorylates HDAC7, leading to nuclear export of HDAC7 and inhibition of HDAC7 transcriptional repression of NR4A1/NUR77 (PubMed:17962809). Upon TCR stimulation, is activated independently of ZAP70, translocates from the cytoplasm to the nucleus and is required for interleukin-2 (IL2) promoter up-regulation (PubMed:17077180). During adaptive immune responses, is required in peripheral T-lymphocytes for the production of the effector cytokines IL2 and IFNG after TCR engagement and for optimal induction of antibody responses to antigens (By similarity). In epithelial cells stimulated with lysophosphatidic acid (LPA), is activated through a PKC-dependent pathway and mediates LPA-stimulated interleukin-8 (IL8) secretion via a NF-kappa-B-dependent pathway (PubMed:16928771). During TCR-induced T-cell activation, interacts with and is activated by the tyrosine kinase LCK, which results in the activation of the NFAT transcription factors (PubMed:19192391). In the trans-Golgi network (TGN), regulates the fission of transport vesicles that are on their way to the plasma membrane and in polarized cells is involved in the transport of proteins from the TGN to the basolateral membrane (PubMed:14743217). Plays an important role in endothelial cell proliferation and migration prior to angiogenesis, partly through modulation of the expression of KDR/VEGFR2 and FGFR1, two key growth factor receptors involved in angiogenesis (PubMed:19001381). In secretory pathway, is required for the release of chromogranin-A (CHGA)-containing secretory granules from the TGN (PubMed:18262756). Downstream of PRKCA, plays important roles in angiotensin-2-induced monocyte adhesion to endothelial cells (PubMed:17951978). Plays a regulatory role in angiogenesis and tumor growth by phosphorylating a downstream mediator CIB1 isoform 2, resulting in vascular endothelial growth factor A (VEGFA) secretion (PubMed:23503467).',NULL,NULL,NULL,NULL,NULL),(9463,'UniProt Function',NULL,11350,NULL,'Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin-dependent signaling, by mediating angiotensin-2-induced activation of integrin beta-1 (ITGB1) in cardiac fibroblasts. Phosphorylates MARCKS, which phosphorylates and activates PTK2/FAK, leading to the spread of cardiomyocytes. Involved in the control of the directional transport of ITGB1 in mesenchymal cells by phosphorylating vimentin (VIM), an intermediate filament (IF) protein. In epithelial cells, associates with and phosphorylates keratin-8 (KRT8), which induces targeting of desmoplakin at desmosomes and regulates cell-cell contact. Phosphorylates IQGAP1, which binds to CDC42, mediating epithelial cell-cell detachment prior to migration. In HeLa cells, contributes to hepatocyte growth factor (HGF)-induced cell migration, and in human corneal epithelial cells, plays a critical role in wound healing after activation by HGF. During cytokinesis, forms a complex with YWHAB, which is crucial for daughter cell separation, and facilitates abscission by a mechanism which may implicate the regulation of RHOA. In cardiac myocytes, regulates myofilament function and excitation coupling at the Z-lines, where it is indirectly associated with F-actin via interaction with COPB1. During endothelin-induced cardiomyocyte hypertrophy, mediates activation of PTK2/FAK, which is critical for cardiomyocyte survival and regulation of sarcomere length. Plays a role in the pathogenesis of dilated cardiomyopathy via persistent phosphorylation of troponin I (TNNI3). Involved in nerve growth factor (NFG)-induced neurite outgrowth and neuron morphological change independently of its kinase activity, by inhibition of RHOA pathway, activation of CDC42 and cytoskeletal rearrangement. May be involved in presynaptic facilitation by mediating phorbol ester-induced synaptic potentiation. Phosphorylates gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2), which reduces the response of GABA receptors to ethanol and benzodiazepines and may mediate acute tolerance to the intoxicating effects of ethanol. Upon PMA treatment, phosphorylates the capsaicin- and heat-activated cation channel TRPV1, which is required for bradykinin-induced sensitization of the heat response in nociceptive neurons. Is able to form a complex with PDLIM5 and N-type calcium channel, and may enhance channel activities and potentiates fast synaptic transmission by phosphorylating the pore-forming alpha subunit CACNA1B (CaV2.2). In prostate cancer cells, interacts with and phosphorylates STAT3, which increases DNA-binding and transcriptional activity of STAT3 and seems to be essential for prostate cancer cell invasion. Downstream of TLR4, plays an important role in the lipopolysaccharide (LPS)-induced immune response by phosphorylating and activating TICAM2/TRAM, which in turn activates the transcription factor IRF3 and subsequent cytokines production. In differentiating erythroid progenitors, is regulated by EPO and controls the protection against the TNFSF10/TRAIL-mediated apoptosis, via BCL2. May be involved in the regulation of the insulin-induced phosphorylation and activation of AKT1.',NULL,NULL,NULL,NULL,NULL),(9464,'UniProt Function',NULL,11351,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9465,'UniProt Function',NULL,11352,NULL,'Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation.',NULL,NULL,NULL,NULL,NULL),(9466,'UniProt Function',NULL,11355,NULL,'Constitutively active serine/threonine-protein kinase that exhibits growth-factor-independent kinase activity and that may participate in p53/TP53-dependent cell growth arrest signaling and play an inhibitory role during embryogenesis.',NULL,NULL,NULL,NULL,NULL),(9467,'UniProt Function',NULL,11356,NULL,'May be involved in transmitting sphingosine-1 phosphate (SPP)-mediated signaling into the cell (PubMed:12077123). Plays a role in the recruitment of PRDX3 to early endosomes (PubMed:15750338).',NULL,NULL,NULL,NULL,NULL),(9468,'UniProt Function',NULL,11357,NULL,'Hydrolase that can remove \'Lys-48\'-linked conjugated ubiquitin from proteins (PubMed:27292798). Binds to polyubiquitin chains of different linkage types, including \'Lys-6\', \'Lys-11\', \'Lys-29\', \'Lys-33\', \'Lys-48\' and \'Lys-63\' (PubMed:28082312). May play a regulatory role at the level of protein turnover (PubMed:27292798).',NULL,NULL,NULL,NULL,NULL),(9469,'UniProt Function',NULL,11358,NULL,'Hydrolase that can remove \'Lys-48\'-linked conjugated ubiquitin from proteins.',NULL,NULL,NULL,NULL,NULL),(9470,'UniProt Function',NULL,11359,NULL,'Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis (PubMed:12515822, PubMed:15502821, PubMed:16585270). Essential for proper kinetochore microtubule attachments (PubMed:23891108).',NULL,NULL,NULL,NULL,NULL),(9471,'UniProt Function',NULL,11362,NULL,'Plays a role in various cellular processes such as proliferation, differentiation and cell survival. The upstream activator of MAPK7 is the MAPK kinase MAP2K5. Upon activation, it translocates to the nucleus and phosphorylates various downstream targets including MEF2C. EGF activates MAPK7 through a Ras-independent and MAP2K5-dependent pathway. May have a role in muscle cell differentiation. May be important for endothelial function and maintenance of blood vessel integrity. MAP2K5 and MAPK7 interact specifically with one another and not with MEK1/ERK1 or MEK2/ERK2 pathways. Phosphorylates SGK1 at Ser-78 and this is required for growth factor-induced cell cycle progression. Involved in the regulation of p53/TP53 by disrupting the PML-MDM2 interaction.',NULL,NULL,NULL,NULL,NULL),(9472,'UniProt Function',NULL,11363,NULL,'Serine/threonine-protein kinase involved in various processes such as neuronal proliferation, differentiation, migration and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK10/JNK3. In turn, MAPK10/JNK3 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN and ATF2 and thus regulates AP-1 transcriptional activity. Plays regulatory roles in the signaling pathways during neuronal apoptosis. Phosphorylates the neuronal microtubule regulator STMN2. Acts in the regulation of the amyloid-beta precursor protein/APP signaling during neuronal differentiation by phosphorylating APP. Participates also in neurite growth in spiral ganglion neurons. Phosphorylates the CLOCK-ARNTL/BMAL1 heterodimer and plays a role in the photic regulation of the circadian clock (PubMed:22441692).',NULL,NULL,NULL,NULL,NULL),(9473,'UniProt Function',NULL,11364,NULL,'Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK12 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases such as MAPKAPK2, which are activated through phosphorylation and further phosphorylate additional targets. Plays a role in myoblast differentiation and also in the down-regulation of cyclin D1 in response to hypoxia in adrenal cells suggesting MAPK12 may inhibit cell proliferation while promoting differentiation. Phosphorylates DLG1. Following osmotic shock, MAPK12 in the cell nucleus increases its association with nuclear DLG1, thereby causing dissociation of DLG1-SFPQ complexes. This function is independent of its catalytic activity and could affect mRNA processing and/or gene transcription to aid cell adaptation to osmolarity changes in the environment. Regulates UV-induced checkpoint signaling and repair of UV-induced DNA damage and G2 arrest after gamma-radiation exposure. MAPK12 is involved in the regulation of SLC2A1 expression and basal glucose uptake in L6 myotubes; and negatively regulates SLC2A4 expression and contraction-mediated glucose uptake in adult skeletal muscle. C-Jun (JUN) phosphorylation is stimulated by MAPK14 and inhibited by MAPK12, leading to a distinct AP-1 regulation. MAPK12 is required for the normal kinetochore localization of PLK1, prevents chromosomal instability and supports mitotic cell viability. MAPK12-signaling is also positively regulating the expansion of transient amplifying myogenic precursor cells during muscle growth and regeneration.',NULL,NULL,NULL,NULL,NULL),(9474,'UniProt Function',NULL,11365,NULL,'Catalytic subunit of a complex which severs microtubules in an ATP-dependent manner. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal processes by microtubule-dependent motor proteins. This transport is required for axonal growth.',NULL,NULL,NULL,NULL,NULL),(9475,'UniProt Function',NULL,11366,NULL,'Atypical MAPK protein that regulates several process such as autophagy, ciliogenesis, protein trafficking/secretion and genome integrity, in a kinase activity-dependent manner (PubMed:22948227, PubMed:24618899, PubMed:29021280, PubMed:21847093, PubMed:20733054). Controls both, basal and starvation-induced autophagy throught its interaction with GABARAP, MAP1LC3B and GABARAPL1 leading to autophagosome formation, SQSTM1 degradation and reduced MAP1LC3B inhibitory phosphorylation (PubMed:22948227). Regulates primary cilium formation and the localization of ciliary proteins involved in cilium structure, transport, and signaling (PubMed:29021280). Prevents the relocation of the sugar-adding enzymes from the Golgi to the endoplasmic reticulum, thereby restricting the production of sugar-coated proteins (PubMed:24618899). Upon amino-acid starvation, mediates transitional endoplasmic reticulum site disassembly and inhibition of secretion (PubMed:21847093). Binds to chromatin leading to MAPK15 activation and interaction with PCNA, that which protects genomic integrity by inhibiting MDM2-mediated degradation of PCNA (PubMed:20733054). Regulates DA transporter (DAT) activity and protein expression via activation of RhoA (PubMed:28842414). In response to H(2)O(2) treatment phosphorylates ELAVL1, thus preventing it from binding to the PDCD4 3\'UTR and rendering the PDCD4 mRNA accessible to miR-21 and leading to its degradation and loss of protein expression (PubMed:26595526). Also functions in a kinase activity-independent manner as a negative regulator of growth (By similarity). Phosphorylates in vitro FOS and MBP (PubMed:11875070, PubMed:16484222, PubMed:20638370, PubMed:19166846). During oocyte maturation, plays a key role in the microtubule organization and meiotic cell cycle progression in oocytes, fertilized eggs, and early embryos (By similarity). Interacts with ESRRA promoting its re-localization from the nucleus to the cytoplasm and then prevents its transcriptional activity (PubMed:21190936).',NULL,NULL,NULL,NULL,NULL),(9476,'UniProt Function',NULL,11367,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9477,'UniProt Function',NULL,11368,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9478,'UniProt Function',NULL,11369,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9479,'UniProt Function',NULL,11370,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9480,'UniProt Function',NULL,11371,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9481,'UniProt Function',NULL,11372,NULL,'Endopeptidase that degrades various components of the extracellular matrix, such as fibrin. May be involved in the activation of membrane-bound precursors of growth factors or inflammatory mediators, such as tumor necrosis factor-alpha. May also be involved in tumoral process. Cleaves pro-TNF-alpha at the \'74-Ala-|-Gln-75\' site. Not obvious if able to proteolytically activate progelatinase A. Does not hydrolyze collagen types I, II, III, IV and V, gelatin, fibronectin, laminin, decorin nor alpha1-antitrypsin.',NULL,NULL,NULL,NULL,NULL),(9482,'UniProt Function',NULL,11373,NULL,'Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK8/JNK1. In turn, MAPK8/JNK1 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN, JDP2 and ATF2 and thus regulates AP-1 transcriptional activity. Phosphorylates the replication licensing factor CDT1, inhibiting the interaction between CDT1 and the histone H4 acetylase HBO1 to replication origins. Loss of this interaction abrogates the acetylation required for replication initiation. Promotes stressed cell apoptosis by phosphorylating key regulatory factors including p53/TP53 and Yes-associates protein YAP1. In T-cells, MAPK8 and MAPK9 are required for polarized differentiation of T-helper cells into Th1 cells. Contributes to the survival of erythroid cells by phosphorylating the antagonist of cell death BAD upon EPO stimulation. Mediates starvation-induced BCL2 phosphorylation, BCL2 dissociation from BECN1, and thus activation of autophagy. Phosphorylates STMN2 and hence regulates microtubule dynamics, controlling neurite elongation in cortical neurons. In the developing brain, through its cytoplasmic activity on STMN2, negatively regulates the rate of exit from multipolar stage and of radial migration from the ventricular zone. Phosphorylates several other substrates including heat shock factor protein 4 (HSF4), the deacetylase SIRT1, ELK1, or the E3 ligase ITCH. Phosphorylates the CLOCK-ARNTL/BMAL1 heterodimer and plays a role in the regulation of the circadian clock (PubMed:22441692). Phosphorylates the heat shock transcription factor HSF1, suppressing HSF1-induced transcriptional activity (PubMed:10747973). Phosphorylates POU5F1, which results in the inhibition of POU5F1\'s transcriptional activity and enhances its proteosomal degradation (By similarity).',NULL,NULL,NULL,NULL,NULL),(9483,'UniProt Function',NULL,11373,NULL,'JNK1 isoforms display different binding patterns: beta-1 preferentially binds to c-Jun, whereas alpha-1, alpha-2, and beta-2 have a similar low level of binding to both c-Jun or ATF2. However, there is no correlation between binding and phosphorylation, which is achieved at about the same efficiency by all isoforms.',NULL,NULL,NULL,NULL,NULL),(9484,'UniProt Function',NULL,11374,NULL,'Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal processes by microtubule-dependent motor proteins. This transport is required for axonal growth.',NULL,NULL,NULL,NULL,NULL),(9485,'UniProt Function',NULL,11375,NULL,'Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.',NULL,NULL,NULL,NULL,NULL),(9486,'UniProt Function',NULL,11376,NULL,'Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Required for internalization of the GABA receptor GABRA1 from the cell membrane via endosomes and subsequent GABRA1 degradation (By similarity). Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1 (PubMed:18710924).',NULL,NULL,NULL,NULL,NULL),(9487,'UniProt Function',NULL,11377,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9488,'UniProt Function',NULL,11378,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9489,'UniProt Function',NULL,11379,NULL,'May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap.',NULL,NULL,NULL,NULL,NULL),(9490,'UniProt Function',NULL,11380,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9491,'UniProt Function',NULL,11381,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9492,'UniProt Function',NULL,11382,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9493,'UniProt Function',NULL,11383,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9494,'UniProt Function',NULL,11384,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9495,'UniProt Function',NULL,11385,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9496,'UniProt Function',NULL,11386,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9497,'UniProt Function',NULL,11387,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9498,'UniProt Function',NULL,11388,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9499,'UniProt Function',NULL,11389,NULL,'Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. Cleaves triple helical collagens, including type I, type II and type III collagen, but has the highest activity with soluble type II collagen. Can also degrade collagen type IV, type XIV and type X. May also function by activating or degrading key regulatory proteins, such as TGFB1 and CTGF. Plays a role in wound healing, tissue remodeling, cartilage degradation, bone development, bone mineralization and ossification. Required for normal embryonic bone development and ossification. Plays a role in the healing of bone fractures via endochondral ossification. Plays a role in wound healing, probably by a mechanism that involves proteolytic activation of TGFB1 and degradation of CTGF. Plays a role in keratinocyte migration during wound healing. May play a role in cell migration and in tumor cell invasion.',NULL,NULL,NULL,NULL,NULL),(9500,'UniProt Function',NULL,11390,NULL,'Endopeptidase that degrades various components of the extracellular matrix such as collagen. Activates progelatinase A. Essential for pericellular collagenolysis and modeling of skeletal and extraskeletal connective tissues during development (By similarity). May be involved in actin cytoskeleton reorganization by cleaving PTK7 (PubMed:20837484). Acts as a positive regulator of cell growth and migration via activation of MMP15. Involved in the formation of the fibrovascular tissues in association with pro-MMP2 (PubMed:12714657). Cleaves ADGRB1 to release vasculostatin-40 which inhibits angiogenesis (PubMed:22330140).',NULL,NULL,NULL,NULL,NULL),(9501,'UniProt Function',NULL,11391,NULL,'Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.',NULL,NULL,NULL,NULL,NULL),(9502,'UniProt Function',NULL,11393,NULL,'Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and BCR (B-cell antigen receptor)-mediated signaling in B-cells.',NULL,NULL,NULL,NULL,NULL),(9503,'UniProt Function',NULL,11394,NULL,'Sodium-, chloride-, and pH-independent high affinity transport of large neutral amino acids.',NULL,NULL,NULL,NULL,NULL),(9504,'UniProt Function',NULL,11395,NULL,'Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.',NULL,NULL,NULL,NULL,NULL),(9505,'UniProt Function',NULL,11396,NULL,'Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord.',NULL,NULL,NULL,NULL,NULL),(9506,'UniProt Function',NULL,11397,NULL,'Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs) (PubMed:10329423, PubMed:19065001, PubMed:26195816). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines (PubMed:8820107). Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms (PubMed:10722751).',NULL,NULL,NULL,NULL,NULL),(9507,'UniProt Function',NULL,11399,NULL,'Possible role in sperm motility.',NULL,NULL,NULL,NULL,NULL),(9508,'UniProt Function',NULL,11401,NULL,'Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits.',NULL,NULL,NULL,NULL,NULL),(9509,'UniProt Function',NULL,11401,NULL,'(Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins.',NULL,NULL,NULL,NULL,NULL),(9510,'UniProt Function',NULL,11401,NULL,'(Microbial infection) Acts as a receptor for Vesicular stomatitis virus.',NULL,NULL,NULL,NULL,NULL),(9511,'UniProt Function',NULL,11401,NULL,'(Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.',NULL,NULL,NULL,NULL,NULL),(9512,'UniProt Function',NULL,11402,NULL,'May have an important role in the development and/or progression of some cancers.',NULL,NULL,NULL,NULL,NULL),(9513,'UniProt Function',NULL,11403,NULL,'Binds lactose with high affinity. Strong inducer of T-cell apoptosis.',NULL,NULL,NULL,NULL,NULL),(9514,'UniProt Function',NULL,11404,NULL,'May be involved in early liver development.',NULL,NULL,NULL,NULL,NULL),(9515,'UniProt Function',NULL,11405,NULL,'May play a role in stabilizing dense microtubular networks or in vesicular trafficking.',NULL,NULL,NULL,NULL,NULL),(9516,'UniProt Function',NULL,11408,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9517,'UniProt Function',NULL,11409,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9518,'UniProt Function',NULL,11411,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9519,'UniProt Function',NULL,11412,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9520,'UniProt Function',NULL,11413,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9521,'UniProt Function',NULL,11414,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9522,'UniProt Function',NULL,11415,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9523,'UniProt Function',NULL,11416,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9524,'UniProt Function',NULL,11419,NULL,'Involved in lymphocyte activation. Binds to HLA class-II antigens.',NULL,NULL,NULL,NULL,NULL),(9525,'UniProt Function',NULL,11420,NULL,'May help direct the assembly of the nuclear lamina and thereby help maintain the structural organization of the nuclear envelope. Possible receptor for attachment of lamin filaments to the inner nuclear membrane. May be involved in the control of initiation of DNA replication through its interaction with NAKAP95.',NULL,NULL,NULL,NULL,NULL),(9526,'UniProt Function',NULL,11420,NULL,'Thymopoietin (TP) and Thymopentin (TP5) may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.',NULL,NULL,NULL,NULL,NULL),(9527,'UniProt Function',NULL,11421,NULL,'Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Involved in the organization of the laminar architecture of cerebral cortex. It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical barrier to migrating neurons. Radial glial cells play a central role in cerebral cortical development, where they act both as the proliferative unit of the cerebral cortex and a scaffold for neurons migrating toward the pial surface.',NULL,NULL,NULL,NULL,NULL),(9528,'UniProt Function',NULL,11422,NULL,'Binds to the 3\' poly(U) terminus of nascent RNA polymerase III transcripts, protecting them from exonuclease digestion and facilitating their folding and maturation (PubMed:3192525, PubMed:2470590). In case of Coxsackievirus B3 infection, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:12384597).',NULL,NULL,NULL,NULL,NULL),(9529,'UniProt Function',NULL,11423,NULL,'Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Acts as a tumor suppressor which plays a critical role in centrosome duplication, maintenance of mitotic fidelity and genomic stability. Negatively regulates G1/S transition by down-regulating cyclin E/CDK2 kinase activity. Negative regulator of the androgen receptor. Phosphorylates SNAI1 in the nucleus leading to its nuclear retention and stabilization, which enhances its epithelial-mesenchymal transition and tumor cell invasion/migration activities. This tumor-promoting activity is independent of its effects upon YAP1 or WWTR1/TAZ.',NULL,NULL,NULL,NULL,NULL),(9530,'UniProt Function',NULL,11424,NULL,'May play an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leu bond. Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments. Degrades fibronectin but not laminin or Pz-peptide.',NULL,NULL,NULL,NULL,NULL),(9531,'UniProt Function',NULL,11425,NULL,'Transcriptional activator which may act in mitogen-activated protein kinase signaling pathway.',NULL,NULL,NULL,NULL,NULL),(9532,'UniProt Function',NULL,11426,NULL,'Plays a role in the innate immune response. Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria (PubMed:7517398, PubMed:24120359). Acts as an affinity enhancer for CD14, facilitating its association with LPS. Promotes the release of cytokines in response to bacterial lipopolysaccharide (PubMed:7517398, PubMed:24120359).',NULL,NULL,NULL,NULL,NULL),(9533,'UniProt Function',NULL,11427,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(9534,'UniProt Function',NULL,11428,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(9535,'UniProt Function',NULL,11429,NULL,'Precursors of the cornified envelope of the stratum.',NULL,NULL,NULL,NULL,NULL),(9536,'UniProt Function',NULL,11430,NULL,'Binds to the LIM domain of a wide variety of LIM domain-containing transcription factors. May regulate the transcriptional activity of LIM-containing proteins by determining specific partner interactions. Plays a role in the development of interneurons and motor neurons in cooperation with LHX3 and ISL1. Acts synergistically with LHX1/LIM1 in axis formation and activation of gene expression. Acts with LMO2 in the regulation of red blood cell development, maintaining erythroid precursors in an immature state (By similarity).',NULL,NULL,NULL,NULL,NULL),(9537,'UniProt Function',NULL,11431,NULL,'Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into apoproteins specifically involved in DNA metabolism and genomic integrity. In the CIA complex, MMS19 acts as an adapter between early-acting CIA components and a subset of cellular target iron-sulfur proteins such as ERCC2/XPD, FANCJ and RTEL1, thereby playing a key role in nucleotide excision repair (NER), homologous recombination-mediated double-strand break DNA repair, DNA replication and RNA polymerase II (POL II) transcription (PubMed:22678362, PubMed:22678361, PubMed:29225034, PubMed:23585563). As part of the mitotic spindle-associated MMXD complex, plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD (PubMed:20797633). Indirectly acts as a transcriptional coactivator of estrogen receptor (ER), via its role in iron-sulfur insertion into some component of the TFIIH-machinery (PubMed:11279242).',NULL,NULL,NULL,NULL,NULL),(9538,'UniProt Function',NULL,11432,NULL,'Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA.',NULL,NULL,NULL,NULL,NULL),(9539,'UniProt Function',NULL,11434,NULL,'Could be involved in cell-cell and/or cell-matrix interactions necessary for normal growth control. Pro-apoptotic protein that functions intracellularly upstream of JNK activation and cytochrome c release.',NULL,NULL,NULL,NULL,NULL),(9540,'UniProt Function',NULL,11436,NULL,'Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability.',NULL,NULL,NULL,NULL,NULL),(9541,'UniProt Function',NULL,11437,NULL,'RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability (By similarity). Induces an increased concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer. Can regulate alternative splicing of NRXN1 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. Regulates cell-type specific alternative splicing of NRXN1 at AS4 and acts synergystically with SAM68 in exon skipping. In contrast acts antagonistically with SAM68 in NRXN3 exon skipping at AS4. Its phosphorylation by FYN inhibits its ability to regulate splice site selection. May function as an adapter protein for Src kinases during mitosis.',NULL,NULL,NULL,NULL,NULL),(9542,'UniProt Function',NULL,11439,NULL,'Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight junction integrity and foam cell formation, and is required for glioblastoma proliferation and apoptosis prevention in MCF-7 cells. In keratinocytes, binds and activates the tyrosine kinase FYN, which in turn blocks epidermal growth factor receptor (EGFR) signaling and leads to keratinocyte growth arrest and differentiation. Associates with the cyclin CCNE1-CDK2-CDKN1B complex and inhibits CDK2 kinase activity, leading to RB1 dephosphorylation and thereby G1 arrest in keratinocytes. In association with RALA activates actin depolymerization, which is necessary for keratinocyte differentiation. In the pre-B cell receptor signaling, functions downstream of BLNK by up-regulating IRF4, which in turn activates L chain gene rearrangement. Regulates epithelial tight junctions (TJs) by phosphorylating occludin (OCLN) on threonine residues, which is necessary for the assembly and maintenance of TJs. In association with PLD2 and via TLR4 signaling, is involved in lipopolysaccharide (LPS)-induced RGS2 down-regulation and foam cell formation. Upon PMA stimulation, mediates glioblastoma cell proliferation by activating the mTOR pathway, the PI3K/AKT pathway and the ERK1-dependent phosphorylation of ELK1. Involved in the protection of glioblastoma cells from irradiation-induced apoptosis by preventing caspase-9 activation. In camptothecin-treated MCF-7 cells, regulates NF-kappa-B upstream signaling by activating IKBKB, and confers protection against DNA damage-induced apoptosis. Promotes oncogenic functions of ATF2 in the nucleus while blocking its apoptotic function at mitochondria. Phosphorylates ATF2 which promotes its nuclear retention and transcriptional activity and negatively regulates its mitochondrial localization.',NULL,NULL,NULL,NULL,NULL),(9543,'UniProt Function',NULL,11440,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9544,'UniProt Function',NULL,11441,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9545,'UniProt Function',NULL,11442,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9546,'UniProt Function',NULL,11443,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9547,'UniProt Function',NULL,11444,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9548,'UniProt Function',NULL,11445,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9549,'UniProt Function',NULL,11446,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9550,'UniProt Function',NULL,11447,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9551,'UniProt Function',NULL,11448,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9552,'UniProt Function',NULL,11449,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9553,'UniProt Function',NULL,11450,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9554,'UniProt Function',NULL,11451,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9555,'UniProt Function',NULL,11452,NULL,'Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factors RELA, STAT3 and ETV1/ER81, and that contributes to gene activation by histone phosphorylation and functions in the regulation of inflammatory genes (PubMed:11909979, PubMed:12569367, PubMed:12763138, PubMed:9687510, PubMed:18511904, PubMed:9873047). Phosphorylates CREB1 and ATF1 in response to mitogenic or stress stimuli such as UV-C irradiation, epidermal growth factor (EGF) and anisomycin (PubMed:11909979, PubMed:9873047). Plays an essential role in the control of RELA transcriptional activity in response to TNF and upon glucocorticoid, associates in the cytoplasm with the glucocorticoid receptor NR3C1 and contributes to RELA inhibition and repression of inflammatory gene expression (PubMed:12628924, PubMed:18511904). In skeletal myoblasts is required for phosphorylation of RELA at \'Ser-276\' during oxidative stress (PubMed:12628924). In erythropoietin-stimulated cells, is necessary for the \'Ser-727\' phosphorylation of STAT3 and regulation of its transcriptional potential (PubMed:12763138). Phosphorylates ETV1/ER81 at \'Ser-191\' and \'Ser-216\', and thereby regulates its ability to stimulate transcription, which may be important during development and breast tumor formation (PubMed:12569367). Directly represses transcription via phosphorylation of \'Ser-1\' of histone H2A (PubMed:15010469). Phosphorylates \'Ser-10\' of histone H3 in response to mitogenics, stress stimuli and EGF, which results in the transcriptional activation of several immediate early genes, including proto-oncogenes c-fos/FOS and c-jun/JUN (PubMed:12773393). May also phosphorylate \'Ser-28\' of histone H3 (PubMed:12773393). Mediates the mitogen- and stress-induced phosphorylation of high mobility group protein 1 (HMGN1/HMG14) (PubMed:12773393). In lipopolysaccharide-stimulated primary macrophages, acts downstream of the Toll-like receptor TLR4 to limit the production of pro-inflammatory cytokines (By similarity). Functions probably by inducing transcription of the MAP kinase phosphatase DUSP1 and the anti-inflammatory cytokine interleukin 10 (IL10), via CREB1 and ATF1 transcription factors (By similarity). Plays a role in neuronal cell death by mediating the downstream effects of excitotoxic injury (By similarity). Phosphorylates TRIM7 at \'Ser-107\' in response to growth factor signaling via the MEK/ERK pathway, thereby stimulating its ubiquitin ligase activity (PubMed:25851810).',NULL,NULL,NULL,NULL,NULL),(9556,'UniProt Function',NULL,11453,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9557,'UniProt Function',NULL,11454,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9558,'UniProt Function',NULL,11455,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9559,'UniProt Function',NULL,11456,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9560,'UniProt Function',NULL,11457,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9561,'UniProt Function',NULL,11458,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(9562,'UniProt Function',NULL,11459,NULL,'Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity.',NULL,NULL,NULL,NULL,NULL),(9563,'UniProt Function',NULL,11460,NULL,'Anchoring filament protein which is a component of the basement membrane zone.',NULL,NULL,NULL,NULL,NULL),(9564,'UniProt Function',NULL,11461,NULL,'Protease. May regulate the surface expression of some potassium channels by retaining them in the endoplasmic reticulum (By similarity).',NULL,NULL,NULL,NULL,NULL),(9565,'UniProt Function',NULL,11462,NULL,'Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.',NULL,NULL,NULL,NULL,NULL),(9566,'UniProt Function',NULL,11464,NULL,'Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney.',NULL,NULL,NULL,NULL,NULL),(9567,'UniProt Function',NULL,11465,NULL,'Regulates the coordinated translation of type I collagen alpha-1 and alpha-2 mRNAs, CO1A1 and CO1A2. Stabilizes mRNAs through high-affinity binding of a stem-loop structure in their 5\' UTR. This regulation requires VIM and MYH10 filaments, and the helicase DHX9.',NULL,NULL,NULL,NULL,NULL),(9568,'UniProt Function',NULL,11468,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(9569,'UniProt Function',NULL,11471,NULL,'Receptor on natural killer (NK) cells for some HLA-C alleles such as w6. Does not inhibit the activity of NK cells.',NULL,NULL,NULL,NULL,NULL),(9570,'UniProt Function',NULL,11472,NULL,'Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis. Mediates the transport of M6PR-containing vesicles from trans-Golgi network to the plasma membrane via direct interaction with the AP-1 complex. During melanosome maturation, required for delivering melanogenic enzymes from recycling endosomes to nascent melanosomes by creating peripheral recycling endosomal subdomains in melanocytes. Also required for the abcission step in cytokinesis: mediates translocation of ZFYVE26, and possibly TTC19, to the midbody during cytokinesis.',NULL,NULL,NULL,NULL,NULL),(9571,'UniProt Function',NULL,11473,NULL,'Receptor on natural killer cells. May inhibit the activity of NK cells thus preventing cell lysis.',NULL,NULL,NULL,NULL,NULL),(9572,'UniProt Function',NULL,11474,NULL,'Plus-end directed kinesin-like motor enzyme involved in mitotic spindle assembly.',NULL,NULL,NULL,NULL,NULL),(9573,'UniProt Function',NULL,11475,NULL,'Microtubule-depolymerizing kinesin which plays a role in chromosome congression by reducing the amplitude of preanaphase oscillations and slowing poleward movement during anaphase, thus suppressing chromosome movements. May stabilize the CENPE-BUB1B complex at the kinetochores during early mitosis and maintains CENPE levels at kinetochores during chromosome congression.',NULL,NULL,NULL,NULL,NULL),(9574,'UniProt Function',NULL,11478,NULL,'Mitotic kinesin required for chromosome passenger complex (CPC)-mediated cytokinesis. Following phosphorylation by PLK1, involved in recruitment of PLK1 to the central spindle. Interacts with guanosine triphosphate (GTP)-bound forms of RAB6A and RAB6B. May act as a motor required for the retrograde RAB6 regulated transport of Golgi membranes and associated vesicles along microtubules. Has a microtubule plus end-directed motility.',NULL,NULL,NULL,NULL,NULL),(9575,'UniProt Function',NULL,11479,NULL,'Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis.',NULL,NULL,NULL,NULL,NULL),(9576,'UniProt Function',NULL,11480,NULL,'Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility.',NULL,NULL,NULL,NULL,NULL),(9577,'UniProt Function',NULL,11481,NULL,'Motor protein required for establishing a bipolar spindle during mitosis (PubMed:19001501). Required in non-mitotic cells for transport of secretory proteins from the Golgi complex to the cell surface (PubMed:23857769).',NULL,NULL,NULL,NULL,NULL),(9578,'UniProt Function',NULL,11482,NULL,'Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Essential for cytokinesis in Rho-mediated signaling. Required for the localization of ECT2 to the central spindle. Plus-end-directed motor enzyme that moves antiparallel microtubules in vitro.',NULL,NULL,NULL,NULL,NULL),(9579,'UniProt Function',NULL,11483,NULL,'Minus-end microtubule-dependent motor protein (By similarity). Acts as a negative regulator of centrosome separation required to prevent premature centrosome separation during interphase (PubMed:28263957). Required to maintain a centered nucleus to ensure that the spindle is stably oriented at the onset of mitosis (PubMed:28263957). May also act as a negative regulator of amino acid starvation-induced autophagy (PubMed:22354037).',NULL,NULL,NULL,NULL,NULL),(9580,'UniProt Function',NULL,11484,NULL,'Minus end-directed microtubule-dependent motor required for bipolar spindle formation (PubMed:15843429). May contribute to movement of early endocytic vesicles (By similarity). Regulates cilium formation and structure (By similarity).',NULL,NULL,NULL,NULL,NULL),(9581,'UniProt Function',NULL,11485,NULL,'Minus-end microtubule-dependent motor protein. Involved in apically targeted transport (By similarity). Required for zonula adherens maintenance.',NULL,NULL,NULL,NULL,NULL),(9582,'UniProt Function',NULL,11486,NULL,'May regulate basal insulin secretion.',NULL,NULL,NULL,NULL,NULL),(9583,'UniProt Function',NULL,11487,NULL,'Plus-end directed microtubule-dependent motor protein which displays processive activity. Is involved in regulation of microtubule dynamics, synapse function and neuronal morphology, including dendritic tree branching and spine formation. Plays a role in lerning and memory. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptor to cell surface.',NULL,NULL,NULL,NULL,NULL),(9584,'UniProt Function',NULL,11488,NULL,'Involved in the early part of the secretory pathway.',NULL,NULL,NULL,NULL,NULL),(9585,'UniProt Function',NULL,11489,NULL,'Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation.',NULL,NULL,NULL,NULL,NULL),(9586,'UniProt Function',NULL,11490,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B) (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is also involved in neural crest specification: in response to cytosolic calcium increase, interacts with the heterodimer formed with PEF1 and PDCD6/ALG-2, leading to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export (PubMed:27716508). As part of the BCR(KLHL12) complex, also acts as a negative regulator of the Wnt signaling pathway by mediating ubiquitination and subsequent proteolysis of DVL3 (PubMed:16547521). The BCR(KLHL12) complex also mediates polyubiquitination of DRD4 and PEF1, without leading to degradation of these proteins (PubMed:18303015, PubMed:20100572, PubMed:27716508).',NULL,NULL,NULL,NULL,NULL),(9587,'UniProt Function',NULL,11491,NULL,'Substrate-specific adapter for CUL3 E3 ubiquitin-protein ligase complex (PubMed:14528312). Acts as an adapter for CUL3 to target the serine/threonine-protein phosphatase 2A (PP2A) subunit PPP2R5B for ubiquitination and subsequent proteasomal degradation, thus promoting exchange with other regulatory subunits (PubMed:23135275). Acts as an adapter for CUL3 to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, plays a key role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:27561354).',NULL,NULL,NULL,NULL,NULL),(9588,'UniProt Function',NULL,11492,NULL,'Substrate-recognition component of some cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(KLHL17) mediates the ubiquitination and subsequenct degradation of GLUR6. May play a role in the actin-based neuronal function (By similarity).',NULL,NULL,NULL,NULL,NULL),(9589,'UniProt Function',NULL,11494,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis (PubMed:20389280). The BCR(KLHL20) E3 ubiquitin ligase complex also specifically mediates \'Lys-33\'-linked ubiquitination (PubMed:24768539). Involved in anterograde Golgi to endosome transport by mediating \'Lys-33\'-linked ubiquitination of CORO7, promoting interaction between CORO7 and EPS15, thereby facilitating actin polymerization and post-Golgi trafficking (PubMed:24768539). Also acts as a regulator of endothelial migration during angiogenesis by controlling the activation of Rho GTPases. The BCR(KLHL20) E3 ubiquitin ligase complex acts as a regulator of neurite outgrowth by mediating ubiquitination and degradation of PDZ-RhoGEF/ARHGEF11 (PubMed:21670212). In case of tumor, the BCR(KLHL20) E3 ubiquitin ligase complex is involved in tumor hypoxia: following hypoxia, the BCR(KLHL20)complex mediates ubiquitination and degradation of PML, potentiating HIF-1 signaling and cancer progression (PubMed:21840486).',NULL,NULL,NULL,NULL,NULL),(9590,'UniProt Function',NULL,11495,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for chromosome alignment and localization of PLK1 at kinetochores. The BCR(KLHL22) ubiquitin ligase complex mediates monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation. Monoubiquitination of PLK1 does not lead to PLK1 degradation (PubMed:19995937, PubMed:23455478). The BCR(KLHL22) ubiquitin ligase complex is also responsible for the amino acid-stimulated \'Lys-48\' polyubiquitination and proteasomal degradation of DEPDC5. Through the degradation of DEPDC5, releases the GATOR1 complex-mediated inhibition of the TORC1 pathway. It is therefore an amino acid-dependent activator within the amino acid-sensing branch of the TORC1 pathway, indirectly regulating different cellular processes including cell growth and autophagy (PubMed:29769719).',NULL,NULL,NULL,NULL,NULL),(9591,'UniProt Function',NULL,11497,NULL,'Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity (PubMed:27889062). As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14 and controls its levels during keratinocytes differentiation (PubMed:27798626). Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity).',NULL,NULL,NULL,NULL,NULL),(9592,'UniProt Function',NULL,11498,NULL,'Involved in the natural killer (NK)-mediated cytolysis of PHA-induced lymphoblasts.',NULL,NULL,NULL,NULL,NULL),(9593,'UniProt Function',NULL,11499,NULL,'C-type lectin-like receptor involved in natural killer cell mediated cytotoxicity and cytokine secretion in keratinocytes via its interaction with CLEC2A.',NULL,NULL,NULL,NULL,NULL),(9594,'UniProt Function',NULL,11500,NULL,'Involved in B-lymphocyte antigen receptor signaling and germinal center formation.',NULL,NULL,NULL,NULL,NULL),(9595,'UniProt Function',NULL,11502,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN.',NULL,NULL,NULL,NULL,NULL),(9596,'UniProt Function',NULL,11504,NULL,'Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin.',NULL,NULL,NULL,NULL,NULL),(9597,'UniProt Function',NULL,11505,NULL,'Plays an inhibitory role on natural killer (NK) cells cytotoxicity. Activation results in specific acid sphingomyelinase/SMPD1 stimulation with subsequent marked elevation of intracellular ceramide. Activation also leads to AKT1/PKB and RPS6KA1/RSK1 kinases stimulation as well as markedly enhanced T-cell proliferation induced by anti-CD3. Acts as a lectin that binds to the terminal carbohydrate Gal-alpha(1,3)Gal epitope as well as to the N-acetyllactosamine epitope. Binds also to CLEC2D/LLT1 as a ligand and inhibits NK cell-mediated cytotoxicity as well as interferon-gamma secretion in target cells.',NULL,NULL,NULL,NULL,NULL),(9598,'UniProt Function',NULL,11506,NULL,'Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin.',NULL,NULL,NULL,NULL,NULL),(9599,'UniProt Function',NULL,11507,NULL,'Hydrolyzes semenogelin-1 thus leading to the liquefaction of the seminal coagulum.',NULL,NULL,NULL,NULL,NULL),(9600,'UniProt Function',NULL,11508,NULL,'May be involved in desquamation.',NULL,NULL,NULL,NULL,NULL),(9601,'UniProt Function',NULL,11509,NULL,'Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis.',NULL,NULL,NULL,NULL,NULL),(9602,'UniProt Function',NULL,11510,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(9603,'UniProt Function',NULL,11511,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9604,'UniProt Function',NULL,11512,NULL,'Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of MAPK8/JNK1 and Ras signaling, Golgi membrane integrity and trafficking, cell survival through NF-kappa-B activation, cell migration, cell differentiation by mediating HDAC7 nuclear export, cell proliferation via MAPK1/3 (ERK1/2) signaling, and plays a role in cardiac hypertrophy, VEGFA-induced angiogenesis, genotoxic-induced apoptosis and flagellin-stimulated inflammatory response. Phosphorylates the epidermal growth factor receptor (EGFR) on dual threonine residues, which leads to the suppression of epidermal growth factor (EGF)-induced MAPK8/JNK1 activation and subsequent JUN phosphorylation. Phosphorylates RIN1, inducing RIN1 binding to 14-3-3 proteins YWHAB, YWHAE and YWHAZ and increased competition with RAF1 for binding to GTP-bound form of Ras proteins (NRAS, HRAS and KRAS). Acts downstream of the heterotrimeric G-protein beta/gamma-subunit complex to maintain the structural integrity of the Golgi membranes, and is required for protein transport along the secretory pathway. In the trans-Golgi network (TGN), regulates the fission of transport vesicles that are on their way to the plasma membrane. May act by activating the lipid kinase phosphatidylinositol 4-kinase beta (PI4KB) at the TGN for the local synthesis of phosphorylated inositol lipids, which induces a sequential production of DAG, phosphatidic acid (PA) and lyso-PA (LPA) that are necessary for membrane fission and generation of specific transport carriers to the cell surface. Under oxidative stress, is phosphorylated at Tyr-463 via SRC-ABL1 and contributes to cell survival by activating IKK complex and subsequent nuclear translocation and activation of NFKB1. Involved in cell migration by regulating integrin alpha-5/beta-3 recycling and promoting its recruitment in newly forming focal adhesion. In osteoblast differentiation, mediates the bone morphogenetic protein 2 (BMP2)-induced nuclear export of HDAC7, which results in the inhibition of HDAC7 transcriptional repression of RUNX2. In neurons, plays an important role in neuronal polarity by regulating the biogenesis of TGN-derived dendritic vesicles, and is involved in the maintenance of dendritic arborization and Golgi structure in hippocampal cells. May potentiate mitogenesis induced by the neuropeptide bombesin or vasopressin by mediating an increase in the duration of MAPK1/3 (ERK1/2) signaling, which leads to accumulation of immediate-early gene products including FOS that stimulate cell cycle progression. Plays an important role in the proliferative response induced by low calcium in keratinocytes, through sustained activation of MAPK1/3 (ERK1/2) pathway. Downstream of novel PKC signaling, plays a role in cardiac hypertrophy by phosphorylating HDAC5, which in turn triggers XPO1/CRM1-dependent nuclear export of HDAC5, MEF2A transcriptional activation and induction of downstream target genes that promote myocyte hypertrophy and pathological cardiac remodeling. Mediates cardiac troponin I (TNNI3) phosphorylation at the PKA sites, which results in reduced myofilament calcium sensitivity, and accelerated crossbridge cycling kinetics. The PRKD1-HDAC5 pathway is also involved in angiogenesis by mediating VEGFA-induced specific subset of gene expression, cell migration, and tube formation. In response to VEGFA, is necessary and required for HDAC7 phosphorylation which induces HDAC7 nuclear export and endothelial cell proliferation and migration. During apoptosis induced by cytarabine and other genotoxic agents, PRKD1 is cleaved by caspase-3 at Asp-378, resulting in activation of its kinase function and increased sensitivity of cells to the cytotoxic effects of genotoxic agents. In epithelial cells, is required for transducing flagellin-stimulated inflammatory responses by binding and phosphorylating TLR5, which contributes to MAPK14/p38 activation and production of inflammatory cytokines. May play a role in inflammatory response by mediating activation of NF-kappa-B. May be involved in pain transmission by directly modulating TRPV1 receptor. Plays a role in activated KRAS-mediated stabilization of ZNF304 in colorectal cancer (CRC) cells (PubMed:24623306). Regulates nuclear translocation of transcription factor TFEB in macrophages upon live S.enterica infection (By similarity).',NULL,NULL,NULL,NULL,NULL),(9605,'UniProt Function',NULL,11513,NULL,'Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain-containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediates mRNA nuclear export. Positively regulates the association of constitutive transport element (CTE)-containing mRNA with large polyribosomes and translation initiation. According to some authors, is not involved in the nucleocytoplasmic export of unspliced (CTE)-containing RNA species according to (PubMed:22253824). RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds to RNA containing 5\'-[AU]UAA-3\' as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). Can regulate CD44 alternative splicing in a Ras pathway-dependent manner (By similarity). In cooperation with HNRNPA1 modulates alternative splicing of BCL2L1 by promoting splicing toward isoform Bcl-X(S), and of SMN1 (PubMed:17371836, PubMed:20186123). Can regulate alternative splicing of NRXN1 and NRXN3 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. In a neuronal activity-dependent manner cooperates synergistically with KHDRBS2/SLIM-1 in regulation of NRXN1 exon skipping at AS4. The cooperation with KHDRBS2/SLIM-1 is antagonistic for regulation of NXRN3 alternative splicing at AS4 (By similarity).',NULL,NULL,NULL,NULL,NULL),(9606,'UniProt Function',NULL,11513,NULL,'Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase.',NULL,NULL,NULL,NULL,NULL),(9607,'UniProt Function',NULL,11514,NULL,'Microtubule-based anterograde translocator for membranous organelles. Plus end-directed microtubule sliding activity in vitro. Plays a role in primary cilia formation. Plays a role in centriole cohesion and subdistal appendage organization and function. Regulates the formation of the subdistal appendage via recruitement of DCTN1 to the centriole. Also required for ciliary basal feet formation and microtubule anchoring to mother centriole.',NULL,NULL,NULL,NULL,NULL),(9608,'UniProt Function',NULL,11515,NULL,'Motor protein that translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis. May play a role in mitotic chromosomal positioning and bipolar spindle stabilization.',NULL,NULL,NULL,NULL,NULL),(9609,'UniProt Function',NULL,11516,NULL,'Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:9325256, PubMed:18302342).',NULL,NULL,NULL,NULL,NULL),(9610,'UniProt Function',NULL,11517,NULL,'Involved in synaptic transmission (PubMed:24812067). Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity).',NULL,NULL,NULL,NULL,NULL),(9611,'UniProt Function',NULL,11518,NULL,'Essential for hedgehog signaling regulation: acts as both a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms (PubMed:21633164). Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation (By similarity). Involved in the regulation of epidermal differentiation and chondrocyte development (By similarity).',NULL,NULL,NULL,NULL,NULL),(9612,'UniProt Function',NULL,11519,NULL,'Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding of this complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(9613,'UniProt Function',NULL,11520,NULL,'Involved in the early part of the secretory pathway.',NULL,NULL,NULL,NULL,NULL),(9614,'UniProt Function',NULL,11521,NULL,'May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(9615,'UniProt Function',NULL,11522,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis.',NULL,NULL,NULL,NULL,NULL),(9616,'UniProt Function',NULL,11524,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for efficient chromosome alignment and cytokinesis. The BCR(KLHL21) E3 ubiquitin ligase complex regulates localization of the chromosomal passenger complex (CPC) from chromosomes to the spindle midzone in anaphase and mediates the ubiquitination of AURKB. Ubiquitination of AURKB by BCR(KLHL21) E3 ubiquitin ligase complex may not lead to its degradation by the proteasome.',NULL,NULL,NULL,NULL,NULL),(9617,'UniProt Function',NULL,11525,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for translational homeostasis. The BCR(KLHL25) ubiquitin ligase complex acts by mediating ubiquitination of hypophosphorylated EIF4EBP1 (4E-BP1): ubiquitination and subsequent degradation of hypophosphorylated EIF4EBP1 (4E-BP1) probably serves as a homeostatic mechanism to maintain translation and prevent eIF4E inhibition when eIF4E levels are low. The BCR(KLHL25) complex does not target EIF4EBP1 (4E-BP1) when it is hyperphosphorylated or associated with eIF4E.',NULL,NULL,NULL,NULL,NULL),(9618,'UniProt Function',NULL,11527,NULL,'The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin.',NULL,NULL,NULL,NULL,NULL),(9619,'UniProt Function',NULL,11528,NULL,'Plays an inhibitory role on natural killer (NK) cells and T-cell functions upon binding to their non-MHC ligands. May mediate missing self recognition by binding to a highly conserved site on classical cadherins, enabling it to monitor expression of E-cadherin/CDH1, N-cadherin/CDH2 and R-cadherin/CDH4 on target cells.',NULL,NULL,NULL,NULL,NULL),(9620,'UniProt Function',NULL,11529,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis.',NULL,NULL,NULL,NULL,NULL),(9621,'UniProt Function',NULL,11530,NULL,'Probable transporter.',NULL,NULL,NULL,NULL,NULL),(9622,'UniProt Function',NULL,11531,NULL,'Protease whose physiological substrate is not yet known.',NULL,NULL,NULL,NULL,NULL),(9623,'UniProt Function',NULL,11532,NULL,'Serine protease which exhibits a preference for Arg over Lys in the substrate P1 position and for Ser or Pro in the P2 position. Shows activity against amyloid precursor protein, myelin basic protein, gelatin, casein and extracellular matrix proteins such as fibronectin, laminin, vitronectin and collagen. Degrades alpha-synuclein and prevents its polymerization, indicating that it may be involved in the pathogenesis of Parkinson disease and other synucleinopathies. May be involved in regulation of axon outgrowth following spinal cord injury. Tumor cells treated with a neutralizing KLK6 antibody migrate less than control cells, suggesting a role in invasion and metastasis.',NULL,NULL,NULL,NULL,NULL),(9624,'UniProt Function',NULL,11533,NULL,'Serine protease which is capable of degrading a number of proteins such as casein, fibrinogen, kininogen, fibronectin and collagen type IV. Also cleaves L1CAM in response to increased neural activity. Induces neurite outgrowth and fasciculation of cultured hippocampal neurons. Plays a role in the formation and maturation of orphan and small synaptic boutons in the Schaffer-collateral pathway, regulates Schaffer-collateral long-term potentiation in the hippocampus and is required for memory acquisition and synaptic plasticity. Involved in skin desquamation and keratinocyte proliferation. Plays a role in the secondary phase of pathogenesis following spinal cord injury.',NULL,NULL,NULL,NULL,NULL),(9625,'UniProt Function',NULL,11534,NULL,'RAS-Guanine nucleotide exchange factor (GEF) that controls the negative regulation of neuronal dendrite growth by mediating a signaling pathway linking RAS and MAP2 (By similarity). May be involved in cellular senescence (PubMed:24788352).',NULL,NULL,NULL,NULL,NULL),(9626,'UniProt Function',NULL,11536,NULL,'Calcium- and diacylglycerol-independent serine/ threonine-protein kinase that plays a general protective role against apoptotic stimuli, is involved in NF-kappa-B activation, cell survival, differentiation and polarity, and contributes to the regulation of microtubule dynamics in the early secretory pathway. Is necessary for BCR-ABL oncogene-mediated resistance to apoptotic drug in leukemia cells, protecting leukemia cells against drug-induced apoptosis. In cultured neurons, prevents amyloid beta protein-induced apoptosis by interrupting cell death process at a very early step. In glioblastoma cells, may function downstream of phosphatidylinositol 3-kinase (PI(3)K) and PDPK1 in the promotion of cell survival by phosphorylating and inhibiting the pro-apoptotic factor BAD. Can form a protein complex in non-small cell lung cancer (NSCLC) cells with PARD6A and ECT2 and regulate ECT2 oncogenic activity by phosphorylation, which in turn promotes transformed growth and invasion. In response to nerve growth factor (NGF), acts downstream of SRC to phosphorylate and activate IRAK1, allowing the subsequent activation of NF-kappa-B and neuronal cell survival. Functions in the organization of the apical domain in epithelial cells by phosphorylating EZR. This step is crucial for activation and normal distribution of EZR at the early stages of intestinal epithelial cell differentiation. Forms a protein complex with LLGL1 and PARD6B independently of PARD3 to regulate epithelial cell polarity. Plays a role in microtubule dynamics in the early secretory pathway through interaction with RAB2A and GAPDH and recruitment to vesicular tubular clusters (VTCs). In human coronary artery endothelial cells (HCAEC), is activated by saturated fatty acids and mediates lipid-induced apoptosis. Involved in early synaptic long term potentiation phase in CA1 hippocampal cells and short term memory formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(9627,'UniProt Function',NULL,11537,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(9628,'UniProt Function',NULL,11539,NULL,'Enhances production and/or transport of FGF19 and thus has a role in regulation of bile acid synthesis.',NULL,NULL,NULL,NULL,NULL),(9629,'UniProt Function',NULL,11540,NULL,'Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Enhances phosphorylation and proteolytic turnover of the NOTCH intracellular domain in the nucleus through interaction with CDK8. Binds to CREBBP/CBP which promotes nucleosome acetylation at NOTCH enhancers and activates transcription. Induces phosphorylation and localization of CREBBP to nuclear foci. Plays a role in hematopoietic development by regulating NOTCH-mediated lymphoid cell fate decisions.',NULL,NULL,NULL,NULL,NULL),(9630,'UniProt Function',NULL,11541,NULL,'May function in a signal transduction pathway that is activated by various cell stresses and leads to apoptosis.',NULL,NULL,NULL,NULL,NULL),(9631,'UniProt Function',NULL,11542,NULL,'Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.',NULL,NULL,NULL,NULL,NULL),(9632,'UniProt Function',NULL,11545,NULL,'Acts as a scaffolding protein at cell-cell junctions, thereby regulating various cellular and signaling processes. Cooperates with PTEN to modulate the kinase activity of AKT1. Its interaction with PTPRB and tyrosine phosphorylated proteins suggests that it may link receptor tyrosine phosphatase with its substrates at the plasma membrane. In polarized epithelial cells, involved in efficient trafficking of TGFA to the cell surface. Regulates the ability of LPAR2 to activate ERK and RhoA pathways. Regulates the JNK signaling cascade via its interaction with FZD4 and VANGL2.',NULL,NULL,NULL,NULL,NULL),(9633,'UniProt Function',NULL,11546,NULL,'Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between NECTIN1 and NECTIN3 and between NECTIN1 and NECTIN4. Has some neurite outgrowth-promoting activity.',NULL,NULL,NULL,NULL,NULL),(9634,'UniProt Function',NULL,11546,NULL,'(Microbial infection) Acts as a receptor for herpes simplex virus 1/HHV-1, herpes simplex virus 2/HHV-2, and pseudorabies virus/PRV.',NULL,NULL,NULL,NULL,NULL),(9635,'UniProt Function',NULL,11547,NULL,'Seems to be involved in cell adhesion through trans-homophilic and -heterophilic interactions, the latter including specifically interactions with NECTIN1. Does not act as receptor for alpha-herpesvirus entry into cells.',NULL,NULL,NULL,NULL,NULL),(9636,'UniProt Function',NULL,11547,NULL,'(Microbial infection) Acts as a receptor for measles virus.',NULL,NULL,NULL,NULL,NULL),(9637,'UniProt Function',NULL,11548,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits TGF-beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation. Promotes ubiquitination and internalization of various plasma membrane channels such as ENaC, SCN2A/Nav1.2, SCN3A/Nav1.3, SCN5A/Nav1.5, SCN9A/Nav1.7, SCN10A/Nav1.8, KCNA3/Kv1.3, KCNH2, EAAT1, KCNQ2/Kv7.2, KCNQ3/Kv7.3 or CLC5 (PubMed:26363003, PubMed:27445338). Promotes ubiquitination and degradation of SGK1 and TNK2. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Plays a role in dendrite formation by melanocytes (PubMed:23999003). Involved in the regulation of TOR signaling (PubMed:27694961). Ubiquitinates and regulates protein levels of NTRK1 once this one is activated by NGF (PubMed:27445338).',NULL,NULL,NULL,NULL,NULL),(9638,'UniProt Function',NULL,11549,NULL,'Removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). Requires deformylation of the N(alpha)-formylated initiator methionine before it can be hydrolyzed (By similarity). May play a role in colon tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(9639,'UniProt Function',NULL,11550,NULL,'Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). The catalytic activity of human METAP2 toward Met-Val peptides is consistently two orders of magnitude higher than that of METAP1, suggesting that it is responsible for processing proteins containing N-terminal Met-Val and Met-Thr sequences in vivo.',NULL,NULL,NULL,NULL,NULL),(9640,'UniProt Function',NULL,11550,NULL,'Protects eukaryotic initiation factor EIF2S1 from translation-inhibiting phosphorylation by inhibitory kinases such as EIF2AK2/PKR and EIF2AK1/HCR. Plays a critical role in the regulation of protein synthesis.',NULL,NULL,NULL,NULL,NULL),(9641,'UniProt Function',NULL,11551,NULL,'Ubiquitin-like protein which plays an important role in cell cycle control and embryogenesis. Covalent attachment to its substrates requires prior activation by the E1 complex UBE1C-APPBP1 and linkage to the E2 enzyme UBE2M. Attachment of NEDD8 to cullins activates their associated E3 ubiquitin ligase activity, and thus promotes polyubiquitination and proteasomal degradation of cyclins and other regulatory proteins.',NULL,NULL,NULL,NULL,NULL),(9642,'UniProt Function',NULL,11552,NULL,'E3 ubiquitin-protein ligase that may mediate ubiquitination of TFRC and CD86, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May be involved in endosomal trafficking through interaction with STX6.',NULL,NULL,NULL,NULL,NULL),(9643,'UniProt Function',NULL,11553,NULL,'Required for innate immune defense against viruses. Acts downstream of DHX33, DDX58/RIG-I and IFIH1/MDA5, which detect intracellular dsRNA produced during viral replication, to coordinate pathways leading to the activation of NF-kappa-B, IRF3 and IRF7, and to the subsequent induction of antiviral cytokines such as IFN-beta and RANTES (CCL5). Peroxisomal and mitochondrial MAVS act sequentially to create an antiviral cellular state. Upon viral infection, peroxisomal MAVS induces the rapid interferon-independent expression of defense factors that provide short-term protection, whereas mitochondrial MAVS activates an interferon-dependent signaling pathway with delayed kinetics, which amplifies and stabilizes the antiviral response. May activate the same pathways following detection of extracellular dsRNA by TLR3. May protect cells from apoptosis.',NULL,NULL,NULL,NULL,NULL),(9644,'UniProt Function',NULL,11554,NULL,'Major component of the extracellular matrix of cartilage.',NULL,NULL,NULL,NULL,NULL),(9645,'UniProt Function',NULL,11555,NULL,'May be involved in cell-adhesion. May function as a trans-neural growth-promoting factor in regenerative axon sprouting in the mammalian brain (By similarity).',NULL,NULL,NULL,NULL,NULL),(9646,'UniProt Function',NULL,11556,NULL,'Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies.',NULL,NULL,NULL,NULL,NULL),(9647,'UniProt Function',NULL,11557,NULL,'Acyltransferase which mediates the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L-serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine or PS) (LPSAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle.',NULL,NULL,NULL,NULL,NULL),(9648,'UniProt Function',NULL,11558,NULL,'Bifunctional mRNA-capping enzyme exhibiting RNA 5\'-triphosphatase activity in the N-terminal part and mRNA guanylyltransferase activity in the C-terminal part. Catalyzes the first two steps of cap formation: by removing the gamma-phosphate from the 5\'-triphosphate end of nascent mRNA to yield a diphosphate end, and by transferring the gmp moiety of GTP to the 5\'-diphosphate terminus.',NULL,NULL,NULL,NULL,NULL),(9649,'UniProt Function',NULL,11559,NULL,'Acyltransferase which contributes to the regulation of free arachidonic acid (AA) in the cell through the remodeling of phospholipids. Mediates the conversion of lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Required for cortical lamination during brain development (By similarity).',NULL,NULL,NULL,NULL,NULL),(9650,'UniProt Function',NULL,11560,NULL,'Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2. Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues. Important for G1/S transition and S phase progression. Phosphorylates NEK6 and NEK7 and stimulates their activity by releasing the autoinhibitory functions of Tyr-108 and Tyr-97 respectively.',NULL,NULL,NULL,NULL,NULL),(9651,'UniProt Function',NULL,11561,NULL,'Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for \'once per cell cycle\' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity.',NULL,NULL,NULL,NULL,NULL),(9652,'UniProt Function',NULL,11562,NULL,'Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II. Binds RNA which may help to stabilize the NELF complex on nucleic acid. In vitro, the NELFA:NELFCD subcomplex binds to ssDNA and ssRNA in a sequence- and structure-dependent manner.',NULL,NULL,NULL,NULL,NULL),(9653,'UniProt Function',NULL,11563,NULL,'Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for \'once per cell cycle\' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (By similarity). Interacts with MCMBP.',NULL,NULL,NULL,NULL,NULL),(9654,'UniProt Function',NULL,11564,NULL,'Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Required for the execution of the mitotic checkpoint which monitors the process of kinetochore-spindle attachment and inhibits the activity of the anaphase promoting complex by sequestering CDC20 until all chromosomes are aligned at the metaphase plate.',NULL,NULL,NULL,NULL,NULL),(9655,'UniProt Function',NULL,11565,NULL,'Required for checkpoint mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle. May serve as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage marked by \'Ser-139\' phosphorylation of histone H2AFX. Also required for downstream events subsequent to the recruitment of these proteins. These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1.',NULL,NULL,NULL,NULL,NULL),(9656,'UniProt Function',NULL,11566,NULL,'Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17719540, PubMed:17296730, PubMed:19443654, PubMed:29656893). Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis (PubMed:20164194). Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions (PubMed:20164194). Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) (PubMed:29656893). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection (PubMed:29656893). Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres (PubMed:29656893). May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1 (PubMed:17296730). Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle (PubMed:11459825, PubMed:17719540). Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation (PubMed:19443654).',NULL,NULL,NULL,NULL,NULL),(9657,'UniProt Function',NULL,11567,NULL,'May be involved in cell-cell interactions.',NULL,NULL,NULL,NULL,NULL),(9658,'UniProt Function',NULL,11568,NULL,'Catalyzes the epimerization of the S- and R-forms of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. This is a prerequisite for the S-specific NAD(P)H-hydrate dehydratase to allow the repair of both epimers of NAD(P)HX.',NULL,NULL,NULL,NULL,NULL),(9659,'UniProt Function',NULL,11569,NULL,'Probable S-adenosyl-L-methionine-dependent methyltransferase.',NULL,NULL,NULL,NULL,NULL),(9660,'UniProt Function',NULL,11570,NULL,'Isoform 1: Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis.',NULL,NULL,NULL,NULL,NULL),(9661,'UniProt Function',NULL,11571,NULL,'The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane. May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland.',NULL,NULL,NULL,NULL,NULL),(9662,'UniProt Function',NULL,11572,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(9663,'UniProt Function',NULL,11574,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.',NULL,NULL,NULL,NULL,NULL),(9664,'UniProt Function',NULL,11575,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (PubMed:10406464, PubMed:11867769, PubMed:12037571, PubMed:12218053, PubMed:12556447, PubMed:14636573, PubMed:15340084, PubMed:15471764, PubMed:15989967, PubMed:16574658, PubMed:9653119). Acts as a coactivator for GATA1-mediated transcriptional activation during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781).',NULL,NULL,NULL,NULL,NULL),(9665,'UniProt Function',NULL,11576,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(9666,'UniProt Function',NULL,11577,NULL,'Involved in regulation of mitochondrial protein translation and respiration. Plays a role in mitochondria-mediated cell death. May act as a scaffolding protein or stabilizer of respiratory chain supercomplexes. Binds GTP.',NULL,NULL,NULL,NULL,NULL),(9667,'UniProt Function',NULL,11578,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(9668,'UniProt Function',NULL,11579,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(9669,'UniProt Function',NULL,11580,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(9670,'UniProt Function',NULL,11581,NULL,'May be required for adipogenesis.',NULL,NULL,NULL,NULL,NULL),(9671,'UniProt Function',NULL,11582,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May be part of a complex containing NF2/merlin that participates in cellular signaling to the actin cytoskeleton downstream of tyrosine kinase signaling pathways.',NULL,NULL,NULL,NULL,NULL),(9672,'UniProt Function',NULL,11584,NULL,'Circadian deadenylase which plays an important role in post-transcriptional regulation of metabolic genes under circadian control. Degrades poly(A) tails of specific target mRNAs leading to their degradation and suppression of translation. Exerts a rhythmic post-transcriptional control of genes necessary for metabolic functions including nutrient absorption, glucose/insulin sensitivity, lipid metabolism, adipogenesis, inflammation and osteogenesis. Plays an important role in favoring adipogenesis over osteoblastogenesis and acts as a key regulator of the adipogenesis/osteogenesis balance. Promotes adipogenesis by activating PPARG transcriptional activity in a deadenylase-independent manner by facilitating its nuclear translocation. Regulates circadian expression of NOS2 in the liver and negatively regulates the circadian expression of IGF1 in the bone. Critical for proper development of early embryos (By similarity).',NULL,NULL,NULL,NULL,NULL),(9673,'UniProt Function',NULL,11585,NULL,'Involved in nucleolar processing of pre-18S ribosomal RNA. Has a role in the nuclear export of 40S pre-ribosomal subunit to the cytoplasm (By similarity).',NULL,NULL,NULL,NULL,NULL),(9674,'UniProt Function',NULL,11587,NULL,'Involved in ribosomal large subunit assembly (PubMed:24120868). S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 4447 in 28S rRNA (Probable). May play a role in the regulation of the cell cycle and the increased nucleolar activity that is associated with the cell proliferation (Probable).',NULL,NULL,NULL,NULL,NULL),(9675,'UniProt Function',NULL,11588,NULL,'Nucleolar protein which is involved in the integration of the 5S RNP into the ribosomal large subunit during ribosome biogenesis (PubMed:24120868). In ribosome biogenesis, may also play a role in rRNA transcription (PubMed:27729611). Also functions as a nucleolar sensor that regulates the activation of p53/TP53 in response to ribosome biogenesis perturbation, DNA damage and other stress conditions (PubMed:21741933, PubMed:24120868, PubMed:27829214). DNA damage or perturbation of ribosome biogenesis disrupt the interaction between NOP53 and RPL11 allowing RPL11 transport to the nucleoplasm where it can inhibit MDM2 and allow p53/TP53 activation (PubMed:24120868, PubMed:27829214). It may also positively regulate the function of p53/TP53 in cell cycle arrest and apoptosis through direct interaction, preventing its MDM2-dependent ubiquitin-mediated proteasomal degradation (PubMed:22522597). Originally identified as a tumor suppressor, it may also play a role in cell proliferation and apoptosis by positively regulating the stability of PTEN, thereby antagonizing the PI3K-AKT/PKB signaling pathway (PubMed:15355975, PubMed:16971513, PubMed:27729611). May also inhibit cell proliferation and increase apoptosis through its interaction with NF2 (PubMed:21167305). May negatively regulate NPM1 by regulating its nucleoplasmic localization, oligomerization and ubiquitin-mediated proteasomal degradation (PubMed:25818168). Thereby, may prevent NPM1 interaction with MYC and negatively regulate transcription mediated by the MYC-NPM1 complex (PubMed:25956029). May also regulate cellular aerobic respiration (PubMed:24556985). In the cellular response to viral infection, may play a role in the attenuation of interferon-beta through the inhibition of DDX58/RIG-1 (PubMed:27824081).',NULL,NULL,NULL,NULL,NULL),(9676,'UniProt Function',NULL,11589,NULL,'Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs.',NULL,NULL,NULL,NULL,NULL),(9677,'UniProt Function',NULL,11590,NULL,'Transcriptional activator which binds specifically to the MEF2 element, 5\'-YTA[AT](4)TAR-3\', found in numerous muscle-specific genes. Activates transcription via this element. May be involved in muscle-specific and/or growth factor-related transcription.',NULL,NULL,NULL,NULL,NULL),(9678,'UniProt Function',NULL,11591,NULL,'Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1 and isoform 2.',NULL,NULL,NULL,NULL,NULL),(9679,'UniProt Function',NULL,11592,NULL,'Putative methyltransferase.',NULL,NULL,NULL,NULL,NULL),(9680,'UniProt Function',NULL,11593,NULL,'Acts as a negative regulator of hedgehog signaling.',NULL,NULL,NULL,NULL,NULL),(9681,'UniProt Function',NULL,11594,NULL,'Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(9682,'UniProt Function',NULL,11595,NULL,'Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with IHO1/CCDC36 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis.',NULL,NULL,NULL,NULL,NULL),(9683,'UniProt Function',NULL,11596,NULL,'Inhibitory receptor for the CD200/OX2 cell surface glycoprotein. Limits inflammation by inhibiting the expression of proinflammatory molecules including TNF-alpha, interferons, and inducible nitric oxide synthase (iNOS) in response to selected stimuli. Also binds to HHV-8 K14 viral CD200 homolog with identical affinity and kinetics as the host CD200.',NULL,NULL,NULL,NULL,NULL),(9684,'UniProt Function',NULL,11597,NULL,'Binds DNA as a heterodimer with MAX and represses transcription. Binds to the canonical E box sequence 5\'-CACGTG-3\' and, with higher affinity, to 5\'-CACGCG-3\'.',NULL,NULL,NULL,NULL,NULL),(9685,'UniProt Function',NULL,11598,NULL,'Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT (PubMed:22226966). Involved in both early and late stages of the pre-rRNA processing pathways (PubMed:26166824). Spatiotemporally regulates 60S ribosomal subunit biogenesis in the nucleolus (PubMed:15469983, PubMed:16782053, PubMed:29107693, PubMed:26456651). Catalyzes the release of specific assembly factors, such as WDR74, from pre-60S ribosomal particles through the ATPase activity (PubMed:29107693, PubMed:26456651, PubMed:28416111).',NULL,NULL,NULL,NULL,NULL),(9686,'UniProt Function',NULL,11599,NULL,'May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors.',NULL,NULL,NULL,NULL,NULL),(9687,'UniProt Function',NULL,11600,NULL,'May be signaling molecules that resemble neuropeptides. Ligand for alpha-neurexins (By similarity).',NULL,NULL,NULL,NULL,NULL),(9688,'UniProt Function',NULL,11601,NULL,'Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis.',NULL,NULL,NULL,NULL,NULL),(9689,'UniProt Function',NULL,11602,NULL,'Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis.',NULL,NULL,NULL,NULL,NULL),(9690,'UniProt Function',NULL,11603,NULL,'Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Also essential during biosynthesis of the molybdenum cofactor. Acts by mediating the C-terminal thiocarboxylation of sulfur carriers URM1 and MOCS2A. Its N-terminus first activates URM1 and MOCS2A as acyl-adenylates (-COAMP), then the persulfide sulfur on the catalytic cysteine is transferred to URM1 and MOCS2A to form thiocarboxylation (-COSH) of their C-terminus. The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as nucleophile towards URM1 and MOCS2A. Subsequently, a transient disulfide bond is formed. Does not use thiosulfate as sulfur donor; NFS1 probably acting as a sulfur donor for thiocarboxylation reactions.',NULL,NULL,NULL,NULL,NULL),(9691,'UniProt Function',NULL,11604,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9692,'UniProt Function',NULL,11605,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9693,'UniProt Function',NULL,11606,NULL,'May regulate the intracellular trafficking of RAN (PubMed:11290418). Promotes guanine nucleotide release from RAN and inhibits binding of new GTP by preventing the binding of the RAN guanine nucleotide exchange factor RCC1 (PubMed:29040603). Regulates the levels of GTP-bound RAN in the nucleus, and thereby plays a role in the regulation of RAN-dependent mitotic spindle dynamics (PubMed:29040603). Enhances the expression of SCN5A at the cell membrane in cardiomyocytes (PubMed:18184654, PubMed:23420830, PubMed:21621375).',NULL,NULL,NULL,NULL,NULL),(9694,'UniProt Function',NULL,11607,NULL,'Able to phosphorylate several exogenous substrates and to undergo autophosphorylation. Negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner.',NULL,NULL,NULL,NULL,NULL),(9695,'UniProt Function',NULL,11608,NULL,'Catalyzes the formation of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. Probably not involved in absorption of dietary fat in the small intestine (By similarity).',NULL,NULL,NULL,NULL,NULL),(9696,'UniProt Function',NULL,11609,NULL,'Catalyzes the formation of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. Has a preference toward monoacylglycerols containing unsaturated fatty acids in an order of C18:3 > C18:2 > C18:1 > C18:0. Plays a central role in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. May play a role in diet-induced obesity.',NULL,NULL,NULL,NULL,NULL),(9697,'UniProt Function',NULL,11610,NULL,'May be required for traffic between late Golgi and early endosomes.',NULL,NULL,NULL,NULL,NULL),(9698,'UniProt Function',NULL,11611,NULL,'Exhibits a cytosolic function in lipogenesis, adipogenic differentiation, and lipid homeostasis by increasing the activity of ACLY, possibly preventing its dephosphorylation (PubMed:24286864). May act as a transcriptional repressor (PubMed:20225202). Down-regulates CA9 expression (PubMed:20110259).',NULL,NULL,NULL,NULL,NULL),(9699,'UniProt Function',NULL,11612,NULL,'Nuclear factor which forms MORC3-NBs (nuclear bodies) via an ATP-dependent mechanism (PubMed:20501696). Sumoylated MORC3-NBs can also associate with PML-NBs (PubMed:20501696). Recruits TP53 and SP100 to PML-NBs, thus regulating TP53 activity (PubMed:17332504). Binds RNA in vitro (PubMed:11927593). May be required for influenza A transcription during viral infection (PubMed:26202233).',NULL,NULL,NULL,NULL,NULL),(9700,'UniProt Function',NULL,11613,NULL,'Acts as a negative regulator of hedgehog signaling probably by promoting internalization and subsequent degradation of smoothened protein (SMO) present in the ciliary membrane. Plays a role in sonic hedgehog (SHH)-induced spinal neural progenitor cells differentiation.',NULL,NULL,NULL,NULL,NULL),(9701,'UniProt Function',NULL,11615,NULL,'5\' to 3\' RNA helicase contributing to UPF1 mRNA target degradation by translocation along 3\' UTRs (PubMed:24726324). Required for microRNA (miRNA)-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA-mediated cleavage of complementary mRNAs by RISC (PubMed:16289642, PubMed:17507929, PubMed:22791714). In cooperation with FMR1, regulates miRNA-mediated translational repression by AGO2 (PubMed:25464849). Restricts retrotransposition of long interspersed element-1 (LINE-1) in cooperation with TUT4 and TUT7 counteracting the RNA chaperonne activity of L1RE1 (PubMed:30122351, PubMed:23093941). Facilitates LINE-1 uridylation by TUT4 and TUT7 (PubMed:30122351). Required for embryonic viability and for normal central nervous system development and function. Plays two critical roles in early brain development: suppresses retroelements in the nucleus by directly inhibiting cDNA synthesis, while regulates cytoskeletal mRNAs to influence neurite outgrowth in the cytosol (By similarity). May function as a messenger ribonucleoprotein (mRNP) clearance factor (PubMed:24726324).',NULL,NULL,NULL,NULL,NULL),(9702,'UniProt Function',NULL,11615,NULL,'(Microbial infection) Required for RNA-directed transcription and replication of the human hepatitis delta virus (HDV). Interacts with small capped HDV RNAs derived from genomic hairpin structures that mark the initiation sites of RNA-dependent HDV RNA transcription.',NULL,NULL,NULL,NULL,NULL),(9703,'UniProt Function',NULL,11616,NULL,'Very active and specific thyroid hormone transporter. Stimulates cellular uptake of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine. Does not transport Leu, Phe, Trp or Tyr.',NULL,NULL,NULL,NULL,NULL),(9704,'UniProt Function',NULL,11617,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9705,'UniProt Function',NULL,11618,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9706,'UniProt Function',NULL,11619,NULL,'Isoform 1 participates in reactive oxygen species metablism by up- or down-regulation of the genes of antioxidant enzymes.',NULL,NULL,NULL,NULL,NULL),(9707,'UniProt Function',NULL,11620,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9708,'UniProt Function',NULL,11621,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9709,'UniProt Function',NULL,11622,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9710,'UniProt Function',NULL,11623,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9711,'UniProt Function',NULL,11624,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9712,'UniProt Function',NULL,11625,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9713,'UniProt Function',NULL,11626,NULL,'Mediates the uptake of pyruvate into mitochondria.',NULL,NULL,NULL,NULL,NULL),(9714,'UniProt Function',NULL,11627,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9715,'UniProt Function',NULL,11628,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9716,'UniProt Function',NULL,11629,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9717,'UniProt Function',NULL,11630,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9718,'UniProt Function',NULL,11631,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9719,'UniProt Function',NULL,11632,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9720,'UniProt Function',NULL,11633,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9721,'UniProt Function',NULL,11634,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9722,'UniProt Function',NULL,11635,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9723,'UniProt Function',NULL,11636,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9724,'UniProt Function',NULL,11637,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9725,'UniProt Function',NULL,11638,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9726,'UniProt Function',NULL,11639,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9727,'UniProt Function',NULL,11640,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9728,'UniProt Function',NULL,11641,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9729,'UniProt Function',NULL,11642,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9730,'UniProt Function',NULL,11643,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9731,'UniProt Function',NULL,11644,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9732,'UniProt Function',NULL,11645,NULL,'Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.',NULL,NULL,NULL,NULL,NULL),(9733,'UniProt Function',NULL,11646,NULL,'Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Directly dephosphorylates CDK1 and stimulates its kinase activity. Also dephosphorylates CDK2 in complex with cyclin E, in vitro.',NULL,NULL,NULL,NULL,NULL),(9734,'UniProt Function',NULL,11647,NULL,'Metallophosphoesterase required for transport of GPI-anchor proteins from the endoplasmic reticulum to the Golgi. Acts in lipid remodeling steps of GPI-anchor maturation by mediating the removal of a side-chain ethanolamine-phosphate (EtNP) from the second Man (Man2) of the GPI intermediate, an essential step for efficient transport of GPI-anchor proteins.',NULL,NULL,NULL,NULL,NULL),(9735,'UniProt Function',NULL,11648,NULL,'Probable protease.',NULL,NULL,NULL,NULL,NULL),(9736,'UniProt Function',NULL,11649,NULL,'Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which is required for maturation of the majority of mitochondrial precursor proteins (PubMed:25808372). Most MPP cleavage sites follow an arginine at position -2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(9737,'UniProt Function',NULL,11650,NULL,'Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing.',NULL,NULL,NULL,NULL,NULL),(9738,'UniProt Function',NULL,11651,NULL,'Catalytic subunit of the essential mitochondrial processing protease (MPP), which is required for maturation of the majority of mitochondrial precursor proteins (PubMed:29576218). Most MPP cleavage sites follow an arginine at position -2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(9739,'UniProt Function',NULL,11652,NULL,'May have metallophosphoesterase activity (in vitro).',NULL,NULL,NULL,NULL,NULL),(9740,'UniProt Function',NULL,11653,NULL,'Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response (PubMed:10464285, PubMed:9880569). Activated by detection of double stranded RNA (dsRNA): polymerizes higher oligomers of 2\'-5\'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNASEL) leading to its dimerization and subsequent activation (PubMed:10464285, PubMed:9880569, PubMed:11682059). Activation of RNASEL leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication (PubMed:10464285, PubMed:9880569). Can mediate the antiviral effect via the classical RNASEL-dependent pathway or an alternative antiviral pathway independent of RNASEL (PubMed:21142819). In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation (PubMed:21142819). May act as a negative regulator of lactation, stopping lactation in virally infected mammary gland lobules, thereby preventing transmission of viruses to neonates (By similarity). Non-infected lobules would not be affected, allowing efficient pup feeding during infection (By similarity).',NULL,NULL,NULL,NULL,NULL),(9741,'UniProt Function',NULL,11654,NULL,'Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors.',NULL,NULL,NULL,NULL,NULL),(9742,'UniProt Function',NULL,11655,NULL,'Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance.',NULL,NULL,NULL,NULL,NULL),(9743,'UniProt Function',NULL,11657,NULL,'Transcriptional repressor. Binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5\'-CAC[GA]TG-3\'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation (By similarity).',NULL,NULL,NULL,NULL,NULL),(9744,'UniProt Function',NULL,11658,NULL,'Reduces p53/TP53 transactivation function through recruitment of HDAC3 to p53/TP53 transcription sites. Also represses p73/TP73 activity. Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination by TRIM28 potentially in presence of Ubl-conjugating enzyme UBE2H. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in embryonal development and tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes. Negatively regulates acetylation and sumoylation of PML and represses PML-induced p53/TP53 acetylation and activation.',NULL,NULL,NULL,NULL,NULL),(9745,'UniProt Function',NULL,11659,NULL,'Transcriptional repressor. Binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5\'-CAC[GA]TG-3\'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation (By similarity).',NULL,NULL,NULL,NULL,NULL),(9746,'UniProt Function',NULL,11660,NULL,'Plays a role in the regulation of neuronal activity.',NULL,NULL,NULL,NULL,NULL),(9747,'UniProt Function',NULL,11662,NULL,'Serine/threonine-protein kinase (PubMed:23666762). Involved in cell polarity and microtubule dynamics regulation. Phosphorylates CRTC2/TORC2, DCX, HDAC7, KIF13B, MAP2, MAP4 and RAB11FIP2. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Plays a key role in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Regulates epithelial cell polarity by phosphorylating RAB11FIP2. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Regulates axogenesis by phosphorylating KIF13B, promoting interaction between KIF13B and 14-3-3 and inhibiting microtubule-dependent accumulation of KIF13B. Also required for neurite outgrowth and establishment of neuronal polarity. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins (DVL1, DVL2 and/or DVL3). Modulates the developmental decision to build a columnar versus a hepatic epithelial cell apparently by promoting a switch from a direct to a transcytotic mode of apical protein delivery. Essential for the asymmetric development of membrane domains of polarized epithelial cells.',NULL,NULL,NULL,NULL,NULL),(9748,'UniProt Function',NULL,11663,NULL,'E3 ubiquitin-protein ligase which may be involved in endosomal trafficking. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(9749,'UniProt Function',NULL,11667,NULL,'Inhibits the MAP3K12 activity to induce the activation of the JNK/SAPK pathway. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4.',NULL,NULL,NULL,NULL,NULL),(9750,'UniProt Function',NULL,11668,NULL,'Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.',NULL,NULL,NULL,NULL,NULL),(9751,'UniProt Function',NULL,11669,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(9752,'UniProt Function',NULL,11670,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(9753,'UniProt Function',NULL,11671,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(9754,'UniProt Function',NULL,11672,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(9755,'UniProt Function',NULL,11673,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(9756,'UniProt Function',NULL,11674,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Required for RARA/RXRA-mediated transcription.',NULL,NULL,NULL,NULL,NULL),(9757,'UniProt Function',NULL,11675,NULL,'Transcription factor which may play a role in oogenesis. Binds preferentially to the DNA sequences 5\'-TAATTG-3\', 5\'-TAGTTG-3\' and 5\'-TAATTA-3\'.',NULL,NULL,NULL,NULL,NULL),(9758,'UniProt Function',NULL,11676,NULL,'Transcriptional activator which binds specifically to the MEF2 element, 5\'-YTA[AT](4)TAR-3\', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(9759,'UniProt Function',NULL,11678,NULL,'Transcriptional activator that binds to regulatory elements in promoter regions in a cell- and response element (target)-specific manner. Induces gene expression by binding as monomers to the NR4A1 response element (NBRE) 5\'-AAAAGGTCA-3\' site and as homodimers to the Nur response element (NurRE) site in the promoter of their regulated target genes (By similarity). Plays a role in the regulation of proliferation, survival and differentiation of many different cell types and also in metabolism and inflammation. Mediates proliferation of vascular smooth muscle, myeloid progenitor cell and type B pancreatic cells; promotes mitogen-induced vascular smooth muscle cell proliferation through transactivation of SKP2 promoter by binding a NBRE site (By similarity). Upon PDGF stimulation, stimulates vascular smooth muscle cell proliferation by regulating CCND1 and CCND2 expression. In islets, induces type B pancreatic cell proliferation through up-regulation of genes that activate cell cycle, as well as genes that cause degradation of the CDKN1A (By similarity). Negatively regulates myeloid progenitor cell proliferation by repressing RUNX1 in a NBRE site-independent manner. During inner ear, plays a role as a key mediator of the proliferative growth phase of semicircular canal development (By similarity). Mediates also survival of neuron and smooth muscle cells; mediates CREB-induced neuronal survival, and during hippocampus development, plays a critical role in pyramidal cell survival and axonal guidance. Is required for S phase entry of the cell cycle and survival of smooth muscle cells by inducing CCND1, resulting in RB1 phosphorylation. Binds to NBRE motif in CCND1 promoter, resulting in the activation of the promoter and CCND1 transcription (By similarity). Plays also a role in inflammation; upon TNF stimulation, mediates monocyte adhesion by inducing the expression of VCAM1 and ICAM1 by binding to the NBRE consensus site (By similarity) (PubMed:20558821). In mast cells activated by Fc-epsilon receptor cross-linking, promotes the synthesis and release of cytokines but impairs events leading to degranulation (By similarity). Plays also a role in metabolism; by modulating feeding behavior; and by playing a role in energy balance by inhibiting the glucocorticoid-induced orexigenic neuropeptides AGRP expression, at least in part by forming a complex with activated NR3C1 on the AGRP- glucocorticoid response element (GRE), and thus weakening the DNA binding activity of NR3C1. Upon catecholamines stimulation, regulates gene expression that controls oxidative metabolism in skeletal muscle (By similarity). Plays a role in glucose transport by regulating translocation of the SLC2A4 glucose transporter to the cell surface (PubMed:24022864). Finally, during gastrulation plays a crucial role in the formation of anterior mesoderm by controlling cell migration. Inhibits adipogenesis (By similarity). Also participates in cardiac hypertrophy by activating PARP1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(9760,'UniProt Function',NULL,11679,NULL,'Plays an essential role in protein N-glycosylation. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) onto the free terminal mannose moiety in the core structure of the nascent N-linked glycan chain, giving rise to the second branch in complex glycans.',NULL,NULL,NULL,NULL,NULL),(9761,'UniProt Function',NULL,11680,NULL,'Converts monoacylglycerides to free fatty acids and glycerol. Hydrolyzes the endocannabinoid 2-arachidonoylglycerol, and thereby contributes to the regulation of endocannabinoid signaling, nociperception and perception of pain (By similarity). Regulates the levels of fatty acids that serve as signaling molecules and promote cancer cell migration, invasion and tumor growth (PubMed:20079333).',NULL,NULL,NULL,NULL,NULL),(9762,'UniProt Function',NULL,11681,NULL,'Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5\'-3\' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells.',NULL,NULL,NULL,NULL,NULL),(9763,'UniProt Function',NULL,11682,NULL,'Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts between Schwann cells and axons. Plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with GLDN, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier.',NULL,NULL,NULL,NULL,NULL),(9764,'UniProt Function',NULL,11683,NULL,'Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays a crucial role in crista junction formation and mitochondrial function (PubMed:25764979). Can promote cardiac lipotoxicity by enhancing mitochondrial respiration and fatty acid metabolism in cardiac myoblasts (PubMed:24743151). Promotes cholesterol efflux from macrophage cells. Detected in HDL, LDL and VLDL. Secreted by a microsomal triglyceride transfer protein (MTTP)-dependent mechanism, probably as a VLDL-associated protein that is subsequently transferred to HDL (PubMed:16956892).',NULL,NULL,NULL,NULL,NULL),(9765,'UniProt Function',NULL,11684,NULL,'Elicits growth inhibition on melanoma cells in vitro as well as some other neuroectodermal tumors, including gliomas.',NULL,NULL,NULL,NULL,NULL),(9766,'UniProt Function',NULL,11685,NULL,'Inhibits glioma cells invasion and down-regulates adhesion- and motility-associated genes such as NFKB2 and ICAM1. Exhibits opposing effects to IGFBP2 on cell invasion.',NULL,NULL,NULL,NULL,NULL),(9767,'UniProt Function',NULL,11686,NULL,'Pro-inflammatory cytokine. Involved in the innate immune response to bacterial pathogens. The expression of MIF at sites of inflammation suggests a role as mediator in regulating the function of macrophages in host defense. Counteracts the anti-inflammatory activity of glucocorticoids. Has phenylpyruvate tautomerase and dopachrome tautomerase activity (in vitro), but the physiological substrate is not known. It is not clear whether the tautomerase activity has any physiological relevance, and whether it is important for cytokine activity.',NULL,NULL,NULL,NULL,NULL),(9768,'UniProt Function',NULL,11687,NULL,'May play a role in mitochondrial calcium uptake.',NULL,NULL,NULL,NULL,NULL),(9769,'UniProt Function',NULL,11688,NULL,'Probable lipid-binding protein with higher affinity for phosphatidic acid, a lipid enriched in recycling endosome membranes. On endosome membranes, may act as a downstream effector of Rab proteins recruiting cytosolic proteins to regulate membrane tubulation. May be involved in a late step of receptor-mediated endocytosis regulating for instance endocytosed-EGF receptor trafficking. Alternatively, may regulate slow endocytic recycling of endocytosed proteins back to the plasma membrane. May indirectly play a role in neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(9770,'UniProt Function',NULL,11689,NULL,'Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity.',NULL,NULL,NULL,NULL,NULL),(9771,'UniProt Function',NULL,11690,NULL,'E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative regulator of telomerase. Has negative and positive effects on RNA polymerase II-dependent transcription.',NULL,NULL,NULL,NULL,NULL),(9772,'UniProt Function',NULL,11691,NULL,'May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1\' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3.',NULL,NULL,NULL,NULL,NULL),(9773,'UniProt Function',NULL,11692,NULL,'Adenosyltransferase involved in intracellular vitamin B12 metabolism. Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer taht is stimulated by ATP-binding to MMAB and gated by MMAA.',NULL,NULL,NULL,NULL,NULL),(9774,'UniProt Function',NULL,11693,NULL,'Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm (TAP/NFX1 pathway) (PubMed:10924507). The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 components of the TREX complex (PubMed:18364396, PubMed:19165146, PubMed:9660949). ALYREF/THOC4-bound mRNA is thought to be transferred to the NXF1-NXT1 heterodimer for export (PubMed:18364396, PubMed:19165146, PubMed:9660949). Also involved in nuclear export of m6A-containing mRNAs: interaction between SRSF3 and YTHDC1 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export (PubMed:28984244).',NULL,NULL,NULL,NULL,NULL),(9775,'UniProt Function',NULL,11694,NULL,'Could be involved in the export of mRNA from the nucleus to the cytoplasm. Could also have a role in polarized cytoplasmic transport and localization of mRNA in neurons.',NULL,NULL,NULL,NULL,NULL),(9776,'UniProt Function',NULL,11697,NULL,'May regulate the activity of kinases.',NULL,NULL,NULL,NULL,NULL),(9777,'UniProt Function',NULL,11698,NULL,'Stimulator of protein export for NES-containing proteins (PubMed:10567585). Also plays a role in the nuclear export of U1 snRNA, tRNA, and mRNA (PubMed:10848583). The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 (PubMed:19165146, PubMed:11259602).',NULL,NULL,NULL,NULL,NULL),(9778,'UniProt Function',NULL,11699,NULL,'Regulator of protein export for NES-containing proteins. Also plays a role in mRNA nuclear export.',NULL,NULL,NULL,NULL,NULL),(9779,'UniProt Function',NULL,11700,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9780,'UniProt Function',NULL,11701,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9781,'UniProt Function',NULL,11702,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9782,'UniProt Function',NULL,11703,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9783,'UniProt Function',NULL,11704,NULL,'Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group.',NULL,NULL,NULL,NULL,NULL),(9784,'UniProt Function',NULL,11705,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9785,'UniProt Function',NULL,11706,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9786,'UniProt Function',NULL,11707,NULL,'Sulfurates the molybdenum cofactor. Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form. In vitro, the C-terminal domain is able to reduce N-hydroxylated prodrugs, such as benzamidoxime.',NULL,NULL,NULL,NULL,NULL),(9787,'UniProt Function',NULL,11708,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9788,'UniProt Function',NULL,11709,NULL,'Catalyzes the transfer of a dimethylallyl group onto the adenine at position 37 of both cytosolic and mitochondrial tRNAs, leading to the formation of N6-(dimethylallyl)adenosine (i(6)A).',NULL,NULL,NULL,NULL,NULL),(9789,'UniProt Function',NULL,11710,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9790,'UniProt Function',NULL,11711,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9791,'UniProt Function',NULL,11712,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9792,'UniProt Function',NULL,11713,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9793,'UniProt Function',NULL,11714,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9794,'UniProt Function',NULL,11715,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9795,'UniProt Function',NULL,11716,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9796,'UniProt Function',NULL,11717,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9797,'UniProt Function',NULL,11718,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9798,'UniProt Function',NULL,11719,NULL,'Plays an important role in membrane trafficking through the secretory apparatus. Not involved in endocytic trafficking to lysosomes (By similarity). Acts in concert with CCZ1, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (PubMed:23084991).',NULL,NULL,NULL,NULL,NULL),(9799,'UniProt Function',NULL,11720,NULL,'May be involved in cell survival, proliferation and progression of cancer cells.',NULL,NULL,NULL,NULL,NULL),(9800,'UniProt Function',NULL,11722,NULL,'Regulates insulin sensitivity and metabolic homeostasis. Inhibits the folate cycle, thereby reducing de novo purine biosynthesis which leads to the accumulation of the de novo purine synthesis intermediate 5-aminoimidazole-4-carboxamide (AICAR) and the activation of the metabolic regulator 5\'-AMP-activated protein kinase (AMPK). Protects against age-dependent and diet-induced insulin resistance as well as diet-induced obesity.',NULL,NULL,NULL,NULL,NULL),(9801,'UniProt Function',NULL,11723,NULL,'Sodium-independent transporter that mediates the uptake of aromatic acids. Can function as a net efflux pathway for aromatic amino acids in the basosolateral epithelial cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(9802,'UniProt Function',NULL,11724,NULL,'Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(9803,'UniProt Function',NULL,11726,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9804,'UniProt Function',NULL,11728,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9805,'UniProt Function',NULL,11729,NULL,'Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity).',NULL,NULL,NULL,NULL,NULL),(9806,'UniProt Function',NULL,11731,NULL,'Dual specificity kinase. Is activated by cytokines and environmental stress in vivo. Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinase p38. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14.',NULL,NULL,NULL,NULL,NULL),(9807,'UniProt Function',NULL,11732,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9808,'UniProt Function',NULL,11733,NULL,'Negative regulator of TLR4 signaling. Does not activate JNK1/MAPK8 pathway, p38/MAPK14, nor ERK2/MAPK1 pathways.',NULL,NULL,NULL,NULL,NULL),(9809,'UniProt Function',NULL,11734,NULL,'Serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Acts as a MAPK kinase kinase kinase (MAP4K) and is an upstream activator of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway and to a lesser extent of the p38 MAPKs signaling pathway. Required for the efficient activation of JNKs by TRAF6-dependent stimuli, including pathogen-associated molecular patterns (PAMPs) such as polyinosine-polycytidine (poly(IC)), lipopolysaccharides (LPS), lipid A, peptidoglycan (PGN), or bacterial flagellin. To a lesser degree, IL-1 and engagement of CD40 also stimulate MAP4K2-mediated JNKs activation. The requirement for MAP4K2/GCK is most pronounced for LPS signaling, and extends to LPS stimulation of c-Jun phosphorylation and induction of IL-8. Enhances MAP3K1 oligomerization, which may relieve N-terminal mediated MAP3K1 autoinhibition and lead to activation following autophosphorylation. Mediates also the SAP/JNK signaling pathway and the p38 MAPKs signaling pathway through activation of the MAP3Ks MAP3K10/MLK2 and MAP3K11/MLK3. May play a role in the regulation of vesicle targeting or fusion. regulation of vesicle targeting or fusion.',NULL,NULL,NULL,NULL,NULL),(9810,'UniProt Function',NULL,11735,NULL,'Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the complex, MAJIN acts as the anchoring subunit to the nucleus inner membrane. MAJIN shows DNA-binding activity, possibly for the stabilization of telomere attachment on the nucleus inner membrane.',NULL,NULL,NULL,NULL,NULL),(9811,'UniProt Function',NULL,11736,NULL,'Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:8932385). However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2L1/NRF1, and recruiting them to specific DNA-binding sites. Interacts with the upstream promoter region of the oxytocin receptor gene (PubMed:8932385, PubMed:16549056). May be a transcriptional enhancer in the up-regulation of the oxytocin receptor gene at parturition (PubMed:10527846).',NULL,NULL,NULL,NULL,NULL),(9812,'UniProt Function',NULL,11737,NULL,'Activates the JUN N-terminal pathway through activation of the MAP kinase kinase MAP2K7. Acts synergistically with PRDX3 to regulate the activation of NF-kappa-B in the cytosol. This activation is kinase-dependent and involves activating the IKK complex, the IKBKB-containing complex that phosphorylates inhibitors of NF-kappa-B.',NULL,NULL,NULL,NULL,NULL),(9813,'UniProt Function',NULL,11738,NULL,'Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton (PubMed:12388762, PubMed:16109370, PubMed:19632184, PubMed:21646404, PubMed:28726242, PubMed:28814570). Promotes cytoplasmic microtubule nucleation and elongation (PubMed:12388762, PubMed:16109370, PubMed:19632184, PubMed:21646404, PubMed:28726242, PubMed:28814570). May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes (PubMed:12388762). Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:28814570). Promotes elongation of CAMSAP2-decorated microtubule stretches on the minus-end of microtubules (PubMed:28814570). Acts as a regulator of autophagosome transport via interaction with CAMSAP2 (PubMed:28726242). May play a role in cell migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(9814,'UniProt Function',NULL,11740,NULL,'Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. This receptor is a possible mediator of the immunomodulation properties of melanocortins.',NULL,NULL,NULL,NULL,NULL),(9815,'UniProt Function',NULL,11741,NULL,'Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MYC or MAD which recognizes the core sequence 5\'-CAC[GA]TG-3\'. The MYC:MAX complex is a transcriptional activator, whereas the MAD:MAX complex is a repressor. May repress transcription via the recruitment of a chromatin remodeling complex containing H3 \'Lys-9\' histone methyltransferase activity. Represses MYC transcriptional activity from E-box elements.',NULL,NULL,NULL,NULL,NULL),(9816,'UniProt Function',NULL,11742,NULL,'Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. Required to stimulate histone methyltransferase activity of SETDB1 and facilitate the conversion of dimethylated to trimethylated H3 \'Lys-9\' (H3K9me3). The complex formed with MBD1 and SETDB1 represses transcription and couples DNA methylation and histone H3 \'Lys-9\' trimethylation (H3K9me3). Facilitates telomerase TERT and TERC gene expression by SP1 in cancer cells.',NULL,NULL,NULL,NULL,NULL),(9817,'UniProt Function',NULL,11744,NULL,'Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway.',NULL,NULL,NULL,NULL,NULL),(9818,'UniProt Function',NULL,11746,NULL,'Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:22114354, PubMed:25781180).',NULL,NULL,NULL,NULL,NULL),(9819,'UniProt Function',NULL,11747,NULL,'May be a receptor for the CD200/OX2 cell surface glycoprotein.',NULL,NULL,NULL,NULL,NULL),(9820,'UniProt Function',NULL,11748,NULL,'Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:19940139, PubMed:19885840). May activate ARF6 and be involved in the trafficking of GPI-anchored cargo proteins to the cell surface via the ARF6-regulated recycling pathway (PubMed:17662026). May play a role in immune processes. In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). In the innate immune response, may play a role in the regulation of chemokine secretion and macrophage migration (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events (PubMed:19885840).',NULL,NULL,NULL,NULL,NULL),(9821,'UniProt Function',NULL,11749,NULL,'Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for \'once per cell cycle\' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity.',NULL,NULL,NULL,NULL,NULL),(9822,'UniProt Function',NULL,11750,NULL,'Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (By similarity). Plays a role in organogenesis and is involved in the regulation of the Hippo signaling pathway.',NULL,NULL,NULL,NULL,NULL),(9823,'UniProt Function',NULL,11751,NULL,'Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II. In vitro, the NELFA:NELFCD subcomplex binds to ssDNA and ssRNA in a sequence- and structure-dependent manner. Probably required to interact with the RNA polymerase II complex.',NULL,NULL,NULL,NULL,NULL),(9824,'UniProt Function',NULL,11752,NULL,'Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II. Binds RNA which may help to stabilize the NELF complex on nucleic acid. In vitro, binds weakly to the HIV-1 TAR RNA which is located in the long terminal repeat (LTR) of HIV-1. May be able to induce chromatin unfolding.',NULL,NULL,NULL,NULL,NULL),(9825,'UniProt Function',NULL,11753,NULL,'Might play a role in the development of cardiac outflow tract.',NULL,NULL,NULL,NULL,NULL),(9826,'UniProt Function',NULL,11754,NULL,'Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels.',NULL,NULL,NULL,NULL,NULL),(9827,'UniProt Function',NULL,11755,NULL,'Negatively regulates the activity of MCU, the mitochondrial inner membrane calcium uniporter, and thereby modulates calcium uptake into the mitochondrion. Does not form functional calcium channels by itself. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways.',NULL,NULL,NULL,NULL,NULL),(9828,'UniProt Function',NULL,11756,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.',NULL,NULL,NULL,NULL,NULL),(9829,'UniProt Function',NULL,11757,NULL,'Inhibits the transactivation activity of the Myod family of myogenic factors and represses myogenesis. Acts by associating with Myod family members and retaining them in the cytoplasm by masking their nuclear localization signals. Can also interfere with the DNA-binding activity of Myod family members. Plays an important role in trophoblast and chondrogenic differentiation. Regulates the transcriptional activity of TCF7L1/TCF3 by interacting directly with TCF7L1/TCF3 and preventing it from binding DNA. Binds to the axin complex, resulting in an increase in the level of free beta-catenin. Affects axin regulation of the WNT and JNK signaling pathways (By similarity).',NULL,NULL,NULL,NULL,NULL),(9830,'UniProt Function',NULL,11758,NULL,'Probable methyltransferase.',NULL,NULL,NULL,NULL,NULL),(9831,'UniProt Function',NULL,11759,NULL,'Probable S-adenosyl-L-methionine-dependent methyltransferase that mediates 3-methylcytidine modification of some tRNAs.',NULL,NULL,NULL,NULL,NULL),(9832,'UniProt Function',NULL,11760,NULL,'May regulate the mosaic spacing of specific neuron subtypes in the retina through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements (By similarity).',NULL,NULL,NULL,NULL,NULL),(9833,'UniProt Function',NULL,11762,NULL,'Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) and O4-methylthymine (O4-MeT) in DNA. Repairs the methylated nucleobase in DNA by stoichiometrically transferring the methyl group to a cysteine residue in the enzyme. This is a suicide reaction: the enzyme is irreversibly inactivated.',NULL,NULL,NULL,NULL,NULL),(9834,'UniProt Function',NULL,11764,NULL,'Nuclear monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (PubMed:24440334). In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2) (By similarity). Acts as a key regulator of the SRF signaling pathway elicited by nerve growth factor and serum: mediates oxidation and subsequent depolymerization of nuclear actin, leading to increase MKL1/MRTF-A presence in the nucleus and promote SRF:MKL1/MRTF-A-dependent gene transcription. Does not activate SRF:MKL1/MRTF-A through RhoA (PubMed:24440334).',NULL,NULL,NULL,NULL,NULL),(9835,'UniProt Function',NULL,11765,NULL,'Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Has also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1 transcription. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:25781180).',NULL,NULL,NULL,NULL,NULL),(9836,'UniProt Function',NULL,11766,NULL,'Transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(9837,'UniProt Function',NULL,11767,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors.',NULL,NULL,NULL,NULL,NULL),(9838,'UniProt Function',NULL,11768,NULL,'Effector of small Rab GTPases which is involved in junctional complexes assembly through the regulation of cell adhesion molecules transport to the plasma membrane and actin cytoskeleton reorganization. Regulates the endocytic recycling of occludins, claudins and E-cadherin to the plasma membrane and may thereby regulate the establishment of tight junctions and adherens junctions. In parallel, may regulate actin cytoskeleton reorganization directly through interaction with F-actin or indirectly through actinins and filamins. Most probably involved in the processes of epithelial cell differentiation, cell spreading and neurite outgrowth (By similarity).',NULL,NULL,NULL,NULL,NULL),(9839,'UniProt Function',NULL,11769,NULL,'Probably involved in the repair of mismatches in DNA.',NULL,NULL,NULL,NULL,NULL),(9840,'UniProt Function',NULL,11770,NULL,'Required for precocious cardiac adaptation to stress through integrated regulation of the AKT/mTOR pathways and FOXO1. Regulates cardiac homeostasis and plays an important role in protection against cardiac hypertrophy. Acts as a transcriptional cofactor, represses transactivator activity of ISL1 and MYOCD.',NULL,NULL,NULL,NULL,NULL),(9841,'UniProt Function',NULL,11771,NULL,'May act as a E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.',NULL,NULL,NULL,NULL,NULL),(9842,'UniProt Function',NULL,11772,NULL,'Pseudokinase that plays a key role in TNF-induced necroptosis, a programmed cell death process. Activated following phosphorylation by RIPK3, leading to homotrimerization, localization to the plasma membrane and execution of programmed necrosis characterized by calcium influx and plasma membrane damage. Does not have protein kinase activity (PubMed:22265413, PubMed:22265414, PubMed:22421439, PubMed:24316671). Binds to highly phosphorylated inositol phosphates such as inositolhexakisphosphate (InsP6) which is essential for its necroptotic function (PubMed:29883610).',NULL,NULL,NULL,NULL,NULL),(9843,'UniProt Function',NULL,11773,NULL,'Binds DNA as a heterodimer with MLX and activates transcription. Binds to the canonical E box sequence 5\'-CACGTG-3\'. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation.',NULL,NULL,NULL,NULL,NULL),(9844,'UniProt Function',NULL,11774,NULL,'Involved in lineage commitment of primary hemopoietic progenitors by restricting erythroid formation and enhancing myeloid formation. Interferes with erythropoietin-induced erythroid terminal differentiation by preventing cells from exiting the cell cycle through suppression of CDKN1B/p27Kip1 levels. Suppresses COP1 activity via CSN3 which activates p53 and induces cell cycle arrest. Binds DNA and affects the expression of a number of genes so may function as a transcription factor in the nucleus.',NULL,NULL,NULL,NULL,NULL),(9845,'UniProt Function',NULL,11775,NULL,'May play a role in the control of meiotic division and germ cell differentiation through regulation of pairing and recombination during meiosis.',NULL,NULL,NULL,NULL,NULL),(9846,'UniProt Function',NULL,11776,NULL,'May play a role in the control of androgen receptor (AR) protein steady-state levels.',NULL,NULL,NULL,NULL,NULL),(9847,'UniProt Function',NULL,11777,NULL,'May be involved in the maintenance of both the function and the viability of sensory neurons, including photoreceptors and olfactory neurons.',NULL,NULL,NULL,NULL,NULL),(9848,'UniProt Function',NULL,11778,NULL,'Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A) (By similarity).',NULL,NULL,NULL,NULL,NULL),(9849,'UniProt Function',NULL,11779,NULL,'Required for death receptor-dependent apoptosis. When associated with RASSF1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation.',NULL,NULL,NULL,NULL,NULL),(9850,'UniProt Function',NULL,11780,NULL,'Modulates LATS1 expression in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis.',NULL,NULL,NULL,NULL,NULL),(9851,'UniProt Function',NULL,11782,NULL,'May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors.',NULL,NULL,NULL,NULL,NULL),(9852,'UniProt Function',NULL,11783,NULL,'Probable oxidoreductase.',NULL,NULL,NULL,NULL,NULL),(9853,'UniProt Function',NULL,11784,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9854,'UniProt Function',NULL,11785,NULL,'Acts as a sulfur carrier required for molybdopterin biosynthesis. Component of the molybdopterin synthase complex that catalyzes the conversion of precursor Z into molybdopterin by mediating the incorporation of 2 sulfur atoms into precursor Z to generate a dithiolene group. In the complex, serves as sulfur donor by being thiocarboxylated (-COSH) at its C-terminus by MOCS3. After interaction with MOCS2B, the sulfur is then transferred to precursor Z to form molybdopterin.',NULL,NULL,NULL,NULL,NULL),(9855,'UniProt Function',NULL,11786,NULL,'May play a role in compacting or stabilizing the myelin sheath, possibly by binding the negatively charged acidic phospholipids of the cytoplasmic membrane.',NULL,NULL,NULL,NULL,NULL),(9856,'UniProt Function',NULL,11787,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9857,'UniProt Function',NULL,11788,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9858,'UniProt Function',NULL,11789,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9859,'UniProt Function',NULL,11790,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9860,'UniProt Function',NULL,11791,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(9861,'UniProt Function',NULL,11793,NULL,'Cleaves the distal alpha 1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner.',NULL,NULL,NULL,NULL,NULL),(9862,'UniProt Function',NULL,11794,NULL,'Catalyzes the formation of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. Also able to catalyze the terminal step in triacylglycerol synthesis by using diacylglycerol and fatty acyl-CoA as substrates. Has a preference toward palmitoyl-CoA and oleoyl-CoA. May be involved in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes.',NULL,NULL,NULL,NULL,NULL),(9863,'UniProt Function',NULL,11795,NULL,'Mediates homophilic cell-cell adhesion (By similarity). Minor component of the myelin sheath. May be involved in completion and/or maintenance of the myelin sheath and in cell-cell communication.',NULL,NULL,NULL,NULL,NULL),(9864,'UniProt Function',NULL,11795,NULL,'(Microbial infection) Acts as a receptor for rubella virus.',NULL,NULL,NULL,NULL,NULL),(9865,'UniProt Function',NULL,11796,NULL,'Cartilage matrix protein is a major component of the extracellular matrix of non-articular cartilage. It binds to collagen.',NULL,NULL,NULL,NULL,NULL),(9866,'UniProt Function',NULL,11797,NULL,'Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.',NULL,NULL,NULL,NULL,NULL),(9867,'UniProt Function',NULL,11798,NULL,'Positive modulator of ATM response to DNA damage.',NULL,NULL,NULL,NULL,NULL),(9868,'UniProt Function',NULL,11801,NULL,'Protein kinase which plays an important role in the G2/M checkpoint response to DNA damage. Controls degradation of CDC25A by directly phosphorylating it on residues whose phosphorylation is required for BTRC-mediated polyubiquitination and degradation.',NULL,NULL,NULL,NULL,NULL),(9869,'UniProt Function',NULL,11802,NULL,'Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation. Mediates its effects by interactions with a number of other regulators of apoptosis. Isoform 1 inhibits apoptosis. Isoform 2 promotes apoptosis.',NULL,NULL,NULL,NULL,NULL),(9870,'UniProt Function',NULL,11803,NULL,'Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis. Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy (PubMed:11013137, PubMed:12459486, PubMed:15336987, PubMed:14749347, PubMed:29019983). Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (By similarity). Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission events (PubMed:16978393). By mediating lysosomal Ca(2+) release is involved in regulation of mTORC1 signaling and in mTOR/TFEB-dependent lysosomal adaptation to environmental cues such as nutrient levels (PubMed:27787197, PubMed:25733853). Seems to act as lysosomal active oxygen species (ROS) sensor involved in ROS-induced TFEB activation and autophagy (PubMed:27357649). Functions as a Fe(2+) permeable channel in late endosomes and lysosomes (PubMed:18794901). Proposed to play a role in zinc homeostasis probably implicating its association with TMEM163 (PubMed:25130899) In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(9871,'UniProt Function',NULL,11803,NULL,'May contribute to cellular lipase activity within the late endosomal pathway or at the cell surface which may be involved in processes of membrane reshaping and vesiculation, especially the growth of tubular structures. However, it is not known, whether it conveys the enzymatic activity directly, or merely facilitates the activity of an associated phospholipase.',NULL,NULL,NULL,NULL,NULL),(9872,'UniProt Function',NULL,11804,NULL,'Nonselective ligand-gated cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:18369318, PubMed:19497048, PubMed:19522758, PubMed:19885840, PubMed:29106414). Mediates release of Ca(2+) from endosomes to the cytoplasm, contributes to endosomal acidification and is involved in the regulation of membrane trafficking and fusion in the endosomal pathway (PubMed:21245134). Does not seem to act as mechanosensory transduction channel in inner ear sensory hair cells. Proposed to play a critical role at the cochlear stereocilia ankle-link region during hair-bundle growth (By similarity). Involved in the regulation of autophagy (PubMed:19522758). Through association with GABARAPL2 may be involved in autophagosome formation possibly providing Ca(2+) for the fusion process (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events (PubMed:19885840). Possible heteromeric ion channel assemblies with TRPV5 show pharmacological similarity with TRPML3 (PubMed:23469151).',NULL,NULL,NULL,NULL,NULL),(9873,'UniProt Function',NULL,11805,NULL,'Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation.',NULL,NULL,NULL,NULL,NULL),(9874,'UniProt Function',NULL,11806,NULL,'Magnesium-dependent phosphatase which may act as a tyrosine phosphatase.',NULL,NULL,NULL,NULL,NULL),(9875,'UniProt Function',NULL,11807,NULL,'Can catalyze the production of LTC4 from LTA4 and reduced glutathione. Can catalyze the conjugation of 1-chloro-2,4-dinitrobenzene with reduced glutathione.',NULL,NULL,NULL,NULL,NULL),(9876,'UniProt Function',NULL,11808,NULL,'Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains (By similarity). Does not catalyze the transfer of GlcNAc to the Manalpha1-6 arm to form GlcNAcBeta1-4Manalpha1-6 linkage (\'GnT-VI\' activity).',NULL,NULL,NULL,NULL,NULL),(9877,'UniProt Function',NULL,11809,NULL,'Catalyzes the addition of N-acetylglucosamine (GlcNAc) in beta 1-6 linkage to the alpha-linked mannose of biantennary N-linked oligosaccharides (PubMed:10395745, PubMed:30140003). Catalyzes an important step in the biosynthesis of branched, complex-type N-glycans, such as those found on EGFR, TGFR (TGF-beta receptor) and CDH2 (PubMed:10395745, PubMed:22614033, PubMed:30140003). Via its role in the biosynthesis of complex N-glycans, plays an important role in the activation of cellular signaling pathways, reorganization of the actin cytoskeleton, cell-cell adhesion and cell migration. MGAT5-dependent EGFR N-glycosylation enhances the interaction between EGFR and LGALS3 and thereby prevents rapid EGFR endocytosis and prolongs EGFR signaling. Required for efficient interaction between TGFB1 and its receptor. Enhances activation of intracellular signaling pathways by several types of growth factors, including FGF2, PDGF, IGF, TGFB1 and EGF. MGAT5-dependent CDH2 N-glycosylation inhibits CDH2-mediated homotypic cell-cell adhesion and contributes to the regulation of downstream signaling pathways. Promotes cell migration. Contributes to the regulation of the inflammatory response. MGAT5-dependent TCR N-glycosylation enhances the interaction between TCR and LGALS3, limits agonist-induced TCR clustering, and thereby dampens TCR-mediated responses to antigens. Required for normal leukocyte evasation and accumulation at sites of inflammation (By similarity). Inhibits attachment of monocytes to the vascular endothelium and subsequent monocyte diapedesis (PubMed:22614033).',NULL,NULL,NULL,NULL,NULL),(9878,'UniProt Function',NULL,11809,NULL,'Secreted alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A: Promotes proliferation of umbilical vein endothelial cells and angiogenesis, at least in part by promoting the release of the growth factor FGF2 from the extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(9879,'UniProt Function',NULL,11810,NULL,'Functions as chaperone and catalyzes the formation of disulfide bonds in substrate proteins, such as COX17, COX19 and MICU1 (PubMed:16185709, PubMed:26387864, PubMed:19182799, PubMed:21059946, PubMed:23186364, PubMed:23676665). Required for the import and folding of small cysteine-containing proteins (small Tim) in the mitochondrial intermembrane space (IMS). Precursor proteins to be imported into the IMS are translocated in their reduced form into the mitochondria. The oxidized form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with the reduced precursor protein, resulting in oxidation of the precursor protein that now contains an intramolecular disulfide bond and is able to undergo folding in the IMS (PubMed:16185709, PubMed:19182799, PubMed:21059946, PubMed:23676665). Reduced CHCHD4/MIA40 is then reoxidized by GFER/ERV1 via a disulfide relay system (PubMed:23186364). Mediates formation of disulfide bond in MICU1 in the IMS, promoting formation of the MICU1-MICU2 heterodimer that regulates mitochondrial calcium uptake (PubMed:26387864).',NULL,NULL,NULL,NULL,NULL),(9880,'UniProt Function',NULL,11811,NULL,'Immunoglobulin-like receptor which plays an inhibitory role in degranulation of mast cells. Negatively regulates IgE-mediated mast cell activation and suppresses the type I immediate hypersensitivity reaction (By similarity).',NULL,NULL,NULL,NULL,NULL),(9881,'UniProt Function',NULL,11814,NULL,'May act as a transcriptional activator/repressor in the myeloid lineage. Plays a role in the granulocyte/monocyte cell-specific response to interferon. Stimulates the DNA binding of the transcriptional repressor protein YY1.',NULL,NULL,NULL,NULL,NULL),(9882,'UniProt Function',NULL,11815,NULL,'Acts as transcriptional repressor and plays a role in gene silencing. Does not bind to DNA by itself (PubMed:12124384). Binds to DNA with a preference for sites containing methylated CpG dinucleotides (in vitro). Binds to a lesser degree DNA containing unmethylated CpG dinucleotides (PubMed:24307175). Recruits histone deacetylases and DNA methyltransferases.',NULL,NULL,NULL,NULL,NULL),(9883,'UniProt Function',NULL,11816,NULL,'Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein.',NULL,NULL,NULL,NULL,NULL),(9884,'UniProt Function',NULL,11817,NULL,'Guanine nucleotide exchange factor that catalyzes guanine nucleotide exchange on RHOA and CDC42, and thereby contributes to the regulation of RHOA and CDC42 signaling pathways (By similarity). Seems to lack activity with RAC1. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5 activates CDC42 (PubMed:15157669).',NULL,NULL,NULL,NULL,NULL),(9885,'UniProt Function',NULL,11817,NULL,'Isoform 3: Does not catalyze guanine nucleotide exchange on CDC42 (PubMed:15157669).',NULL,NULL,NULL,NULL,NULL),(9886,'UniProt Function',NULL,11818,NULL,'Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes. Functions as a repressor or an activator. Binds to 5\'-AATTTCACACCTAGGTGTGAAATT-3\' core sequence and seems to regulate MYC-MAX target genes. Suppresses transcriptional activation by MYC and inhibits MYC-dependent cell transformation. Function activated by heterodimerization with MAX. This heterodimerization serves the dual function of both generating an E-box-binding heterodimer and simultaneously blocking interaction of a corepressor (By similarity).',NULL,NULL,NULL,NULL,NULL),(9887,'UniProt Function',NULL,11819,NULL,'Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAc-beta1,2-Man-alpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAc-beta1,2-Man-alpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of neuronal cells via its activity in the O-mannosyl glycan pathway.',NULL,NULL,NULL,NULL,NULL),(9888,'UniProt Function',NULL,11820,NULL,'Involved in mRNA splicing and in the nonsense-mediated decay (NMD) pathway.',NULL,NULL,NULL,NULL,NULL),(9889,'UniProt Function',NULL,11821,NULL,'Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Involved in glucose transport by mediating SLC2A2/GLUT2 glycosylation, thereby controlling cell-surface expression of SLC2A2 in pancreatic beta cells.',NULL,NULL,NULL,NULL,NULL),(9890,'UniProt Function',NULL,11822,NULL,'Initiates complex N-linked carbohydrate formation. Essential for the conversion of high-mannose to hybrid and complex N-glycans.',NULL,NULL,NULL,NULL,NULL),(9891,'UniProt Function',NULL,11823,NULL,'Facilitates ubiquitin-independent proteasomal degradation of polycomb protein CBX4. Plays a role in inhibiting the activity of glucokinase GCK and both glucose-induced and basal insulin secretion.',NULL,NULL,NULL,NULL,NULL),(9892,'UniProt Function',NULL,11824,NULL,'Increases cell migration by inducing filopodia formation at the leading edge of migrating cells. Plays a role in regulation of apoptosis, possibly through control of CASP3. May be involved in a redox-related process.',NULL,NULL,NULL,NULL,NULL),(9893,'UniProt Function',NULL,11825,NULL,'Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis.',NULL,NULL,NULL,NULL,NULL),(9894,'UniProt Function',NULL,11826,NULL,'May cooperate with MAPK1/ERK2 via an intracellular signal transduction pathway in the morphogenetic development of round spermatids to spermatozoa. May act as Rab effector protein and play a role in vesicle trafficking.',NULL,NULL,NULL,NULL,NULL),(9895,'UniProt Function',NULL,11827,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF-induced apoptosis (By similarity). Involved in ubiquitination of centriolar satellite CEP131, CEP290 and PCM1 proteins and hence inhibits primary cilium formation in proliferating cells. Mediates \'Lys-63\'-linked polyubiquitination of TBK1, which probably participates in kinase activation.',NULL,NULL,NULL,NULL,NULL),(9896,'UniProt Function',NULL,11828,NULL,'Key regulator of mitochondrial calcium uniporter (MCU) that senses calcium level via its EF-hand domains (PubMed:20693986, PubMed:23101630, PubMed:23747253, PubMed:24313810, PubMed:24332854, PubMed:24503055, PubMed:24560927, PubMed:26341627, PubMed:26903221, PubMed:27099988). MICU1 and MICU2 form a disulfide-linked heterodimer that stimulates and inhibits MCU activity, depending on the concentration of calcium. MICU1 acts both as an activator or inhibitor of mitochondrial calcium uptake (PubMed:26903221). Acts as a gatekeeper of MCU at low concentration of calcium, preventing channel opening (PubMed:26903221). Enhances MCU opening at high calcium concentration, allowing a rapid response of mitochondria to calcium signals generated in the cytoplasm (PubMed:24560927, PubMed:26903221). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed:22904319). Induces T-helper 1-mediated autoreactivity, which is accompanied by the release of IFNG (PubMed:16002733).',NULL,NULL,NULL,NULL,NULL),(9897,'UniProt Function',NULL,11829,NULL,'Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation. Promotes primary ciliogenesis by removing OFD1 from centriolar satellites via the autophagic pathway.',NULL,NULL,NULL,NULL,NULL),(9898,'UniProt Function',NULL,11830,NULL,'Ubiquitin-like modifier that plays a crucial role in antibacterial autophagy (xenophagy) through the selective binding of CALCOCO2. Recruits all ATG8 family members to infecting bacteria such as S.Typhimurium (PubMed:23022382). May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated and aggregated proteins (PubMed:28404643).',NULL,NULL,NULL,NULL,NULL),(9899,'UniProt Function',NULL,11831,NULL,'Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.',NULL,NULL,NULL,NULL,NULL),(9900,'UniProt Function',NULL,11832,NULL,'Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).',NULL,NULL,NULL,NULL,NULL),(9901,'UniProt Function',NULL,11833,NULL,'May act as a morphogenetic regulator of cell adhesion.',NULL,NULL,NULL,NULL,NULL),(9902,'UniProt Function',NULL,11834,NULL,'Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MAD1, MAD4, MNT, WBSCR14 and MLXIP which recognizes the core sequence 5\'-CACGTG-3\'. The TCFL4-MAD1, TCFL4-MAD4, TCFL4-WBSCR14 complexes are transcriptional repressors. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation.',NULL,NULL,NULL,NULL,NULL),(9903,'UniProt Function',NULL,11835,NULL,'Can degrade fibronectin, gelatins of type I, III, IV, and V; weakly collagens III, IV, and V. Activates procollagenase.',NULL,NULL,NULL,NULL,NULL),(9904,'UniProt Function',NULL,11836,NULL,'Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines.',NULL,NULL,NULL,NULL,NULL),(9905,'UniProt Function',NULL,11837,NULL,'Stress-activated serine/threonine-protein kinase involved in cytokine production, endocytosis, reorganization of the cytoskeleton, cell migration, cell cycle control, chromatin remodeling, DNA damage response and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. Phosphorylates ALOX5, CDC25B, CDC25C, CEP131, ELAVL1, HNRNPA0, HSP27/HSPB1, KRT18, KRT20, LIMK1, LSP1, PABPC1, PARN, PDE4A, RCSD1, RPS6KA3, TAB3 and TTP/ZFP36. Phosphorylates HSF1; leading to the interaction with HSP90 proteins and inhibiting HSF1 homotrimerization, DNA-binding and transactivation activities (PubMed:16278218). Mediates phosphorylation of HSP27/HSPB1 in response to stress, leading to the dissociation of HSP27/HSPB1 from large small heat-shock protein (sHsps) oligomers and impairment of their chaperone activities and ability to protect against oxidative stress effectively. Involved in inflammatory response by regulating tumor necrosis factor (TNF) and IL6 production post-transcriptionally: acts by phosphorylating AU-rich elements (AREs)-binding proteins ELAVL1, HNRNPA0, PABPC1 and TTP/ZFP36, leading to the regulation of the stability and translation of TNF and IL6 mRNAs. Phosphorylation of TTP/ZFP36, a major post-transcriptional regulator of TNF, promotes its binding to 14-3-3 proteins and reduces its ARE mRNA affinity, leading to inhibition of dependent degradation of ARE-containing transcripts. Phosphorylates CEP131 in response to cellular stress induced by ultraviolet irradiation which promotes binding of CEP131 to 14-3-3 proteins and inhibits formation of novel centriolar satellites (PubMed:26616734). Also involved in late G2/M checkpoint following DNA damage through a process of post-transcriptional mRNA stabilization: following DNA damage, relocalizes from nucleus to cytoplasm and phosphorylates HNRNPA0 and PARN, leading to stabilization of GADD45A mRNA. Involved in toll-like receptor signaling pathway (TLR) in dendritic cells: required for acute TLR-induced macropinocytosis by phosphorylating and activating RPS6KA3.',NULL,NULL,NULL,NULL,NULL),(9906,'UniProt Function',NULL,11838,NULL,'E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I and CD4, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(9907,'UniProt Function',NULL,11839,NULL,'Regulatory subunit of S-adenosylmethionine synthetase 2, an enzyme that catalyzes the formation of S-adenosylmethionine from methionine and ATP. Regulates MAT2A catalytic activity by changing its kinetic properties, increasing its affinity for L-methionine (PubMed:10644686, PubMed:23189196, PubMed:25075345). Can bind NADP (in vitro) (PubMed:23189196, PubMed:23425511).',NULL,NULL,NULL,NULL,NULL),(9908,'UniProt Function',NULL,11840,NULL,'May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). May bind to specific miRNA hairpins (PubMed:28431233).',NULL,NULL,NULL,NULL,NULL),(9909,'UniProt Function',NULL,11841,NULL,'Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5\'ACACCC-3\' core sequence, termed zipcode, within the 3\'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM).',NULL,NULL,NULL,NULL,NULL),(9910,'UniProt Function',NULL,11842,NULL,'Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Acts as DNA glycosylase that recognizes and removes damaged bases. Has a preference for oxidized pyrimidines, such as thymine glycol, formamidopyrimidine (Fapy) and 5-hydroxyuracil. Has marginal activity towards 8-oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the removed base with both 3\'- and 5\'-phosphates. Has DNA glycosylase/lyase activity towards mismatched uracil and thymine, in particular in U:C and T:C mismatches. Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC.',NULL,NULL,NULL,NULL,NULL),(9911,'UniProt Function',NULL,11843,NULL,'Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. The complex formed with MBD1 and SETDB1 represses transcription and probably couples DNA methylation and histone H3 \'Lys-9\' trimethylation (H3K9me3) activity (Probable).',NULL,NULL,NULL,NULL,NULL),(9912,'UniProt Function',NULL,11844,NULL,'Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro).',NULL,NULL,NULL,NULL,NULL),(9913,'UniProt Function',NULL,11845,NULL,'DNA glycosylase which prefers single-stranded DNA (ssDNA), or partially ssDNA structures such as bubble and fork structures, to double-stranded DNA (dsDNA). In vitro, displays strong glycosylase activity towards the hydantoin lesions spiroiminodihydantoin (Sp) and guanidinohydantoin (Gh) in both ssDNA and dsDNA; also recognizes FapyA, FapyG, 5-OHU, 5-OHC, 5-OHMH, Tg and 8-oxoA lesions in ssDNA. No activity on 8-oxoG detected. Also shows weak DNA-(apurinic or apyrimidinic site) lyase activity. In vivo, appears to be the primary enzyme involved in removing Sp and Gh from ssDNA in neonatal tissues. Seems to be an important facilitator of cell proliferation in certain populations, for example neural stem/progenitor cells and tumor cells, suggesting a role in replication-associated DNA repair.',NULL,NULL,NULL,NULL,NULL),(9914,'UniProt Function',NULL,11846,NULL,'Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Constituent of mature MICOS complex, it is required for the formation of cristae junction (CJ) and maintenance of cristae morphology. Required for the incorporation of MINOS1/MIC10 into the MICOS complex.',NULL,NULL,NULL,NULL,NULL),(9915,'UniProt Function',NULL,11847,NULL,'Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.',NULL,NULL,NULL,NULL,NULL),(9916,'UniProt Function',NULL,11848,NULL,'Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T-cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis.',NULL,NULL,NULL,NULL,NULL),(9917,'UniProt Function',NULL,11849,NULL,'Involved in cobalamin metabolism (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin (PubMed:18385497, PubMed:24722857). Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin (PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851).',NULL,NULL,NULL,NULL,NULL),(9918,'UniProt Function',NULL,11851,NULL,'Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion.',NULL,NULL,NULL,NULL,NULL),(9919,'UniProt Function',NULL,11852,NULL,'May play an important role in the progression of epithelial malignancies.',NULL,NULL,NULL,NULL,NULL),(9920,'UniProt Function',NULL,11853,NULL,'GTPase, binds and hydrolyzes GTP (PubMed:28497574, PubMed:20876572). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MUT) and reactivation of the enzyme during catalysis (PubMed:28497574, PubMed:20876572).',NULL,NULL,NULL,NULL,NULL),(9921,'UniProt Function',NULL,11854,NULL,'Phosphatase that hydrolyzes imidodiphosphate, 3-phosphohistidine and 6-phospholysine. Has broad substrate specificity and can also hydrolyze inorganic diphosphate, but with lower efficiency (By similarity).',NULL,NULL,NULL,NULL,NULL),(9922,'UniProt Function',NULL,11856,NULL,'E3 ubiquitin-protein ligase that cooperates with the microRNAs (miRNAs) machinery and promotes embryonic stem cells proliferation and maintenance (Probable). Binds to miRNAs and associates with AGO2, participating in post-transcriptional repression of transcripts such as CDKN1A (By similarity). In addition, participates in post-transcriptional mRNA repression in a miRNA independent mechanism (PubMed:23125361). Facilitates the G1-S transition to promote rapid embryonic stem cell self-renewal by repressing CDKN1A expression. Required to maintain proliferation and prevent premature differentiation of neural progenitor cells during early neural development: positively regulates FGF signaling by controlling the stability of SHCBP1 (By similarity). Specific regulator of miRNA biogenesis. Binds to miRNA MIR29A hairpin and postranscriptionally modulates MIR29A levels, which indirectly regulates TET proteins expression (PubMed:28431233).',NULL,NULL,NULL,NULL,NULL),(9923,'UniProt Function',NULL,11857,NULL,'Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers.',NULL,NULL,NULL,NULL,NULL),(9924,'UniProt Function',NULL,11860,NULL,'Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins.',NULL,NULL,NULL,NULL,NULL),(9925,'UniProt Function',NULL,11861,NULL,'May be involved in neuronal differentiation.',NULL,NULL,NULL,NULL,NULL),(9926,'UniProt Function',NULL,11862,NULL,'Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Mainly converts arachidonic acid to (12S)-hydroperoxyeicosatetraenoic acid/(12S)-HPETE but can also metabolize linoleic acid. Has a dual activity since it also converts leukotriene A4/LTA4 into both the bioactive lipoxin A4/LXA4 and lipoxin B4/LXB4. Through the production of specific bioactive lipids like (12S)-HPETE it regulates different biological processes including platelet activation. It also probably positively regulates angiogenesis through regulation of the expression of the vascular endothelial growth factor. Plays a role in apoptotic process, promoting the survival of vascular smooth muscle cells for instance. May also play a role in the control of cell migration and proliferation.',NULL,NULL,NULL,NULL,NULL),(9927,'UniProt Function',NULL,11863,NULL,'Active on elastin and collagen substrates.',NULL,NULL,NULL,NULL,NULL),(9928,'UniProt Function',NULL,11864,NULL,'Nucleic acid-binding protein which is essential for retrotransposition of LINE-1 elements in the genome. Functions as a nucleic acid chaperone binding its own transcript and therefore preferentially mobilizing the transcript from which they are encoded.',NULL,NULL,NULL,NULL,NULL),(9929,'UniProt Function',NULL,11865,NULL,'Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine) (PubMed:27735137). Acts as a transcription corepressor and specifically mediates deamination of trimethylated \'Lys-4\' of histone H3 (H3K4me3), a specific tag for epigenetic transcriptional activation (PubMed:27735137). Shows no activity against histone H3 when it is trimethylated on \'Lys-9\' (H3K9me3) or \'Lys-27\' (H3K27me3) or when \'Lys-4\' is monomethylated (H3K4me1) or dimethylated (H3K4me2) (PubMed:27735137). Also mediates deamination of methylated TAF10, a member of the transcription factor IID (TFIID) complex, which induces release of TAF10 from promoters, leading to inhibition of TFIID-dependent transcription (PubMed:25959397). LOXL2-mediated deamination of TAF10 results in transcriptional repression of genes required for embryonic stem cell pluripotency including POU5F1/OCT4, NANOG, KLF4 and SOX2 (By similarity). Involved in epithelial to mesenchymal transition (EMT) via interaction with SNAI1 and participates in repression of E-cadherin CDH1, probably by mediating deamination of histone H3 (PubMed:16096638, PubMed:27735137, PubMed:24414204). During EMT, involved with SNAI1 in negatively regulating pericentromeric heterochromatin transcription (PubMed:24239292). SNAI1 recruits LOXL2 to pericentromeric regions to oxidize histone H3 and repress transcription which leads to release of heterochromatin component CBX5/HP1A, enabling chromatin reorganization and acquisition of mesenchymal traits (PubMed:24239292). Interacts with the endoplasmic reticulum protein HSPA5 which activates the IRE1-XBP1 pathway of the unfolded protein response, leading to expression of several transcription factors involved in EMT and subsequent EMT induction (PubMed:28332555). Involved in E-cadherin repression following hypoxia, a hallmark of EMT believed to amplify tumor aggressiveness, suggesting that it may play a role in tumor progression (PubMed:20026874). When secreted into the extracellular matrix, promotes cross-linking of extracellular matrix proteins by mediating oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:20306300). Acts as a regulator of sprouting angiogenesis, probably via collagen IV scaffolding (PubMed:21835952). Acts as a regulator of chondrocyte differentiation, probably by regulating expression of factors that control chondrocyte differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(9930,'UniProt Function',NULL,11866,NULL,'Major keratinocyte cell envelope protein.',NULL,NULL,NULL,NULL,NULL),(9931,'UniProt Function',NULL,11867,NULL,'Regulates fatty acid metabolism. Magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(9932,'UniProt Function',NULL,11868,NULL,'Catalyzes the first step in leukotriene biosynthesis, and thereby plays a role in inflammatory processes.',NULL,NULL,NULL,NULL,NULL),(9933,'UniProt Function',NULL,11871,NULL,'Negatively regulates TGF-beta-induced signaling; in cooperation with SKI prevents the translocation of SMAD2 from the nucleus to the cytoplasm in response to TGF-beta. Acts as an adapter that mediates the specific recognition of LIMK1 by CDC42BPA and CDC42BPB in the lamellipodia. LRAP25-mediated CDC42BPA/CDC42BPB targeting to LIMK1 and the lamellipodium results in LIMK1 activation and the subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation.',NULL,NULL,NULL,NULL,NULL),(9934,'UniProt Function',NULL,11874,NULL,'Required for the organization of the mitotic spindle. Maintains the structural integrity of centrosomes during mitosis.',NULL,NULL,NULL,NULL,NULL),(9935,'UniProt Function',NULL,11875,NULL,'Acts as a negative regulator of GTPase CDC42 by sequestering CDC42-guanine exchange factor DOCK8. Probably by preventing CDC42 activation, negatively regulates CD4(+) T-cell migration.',NULL,NULL,NULL,NULL,NULL),(9936,'UniProt Function',NULL,11876,NULL,'May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.',NULL,NULL,NULL,NULL,NULL),(9937,'UniProt Function',NULL,11877,NULL,'Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.',NULL,NULL,NULL,NULL,NULL),(9938,'UniProt Function',NULL,11878,NULL,'Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores (PubMed:11146660, PubMed:11590237, PubMed:15824131). Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex.',NULL,NULL,NULL,NULL,NULL),(9939,'UniProt Function',NULL,11879,NULL,'Endopeptidase that degrades various components of the extracellular matrix. May activate progelatinase A.',NULL,NULL,NULL,NULL,NULL),(9940,'UniProt Function',NULL,11880,NULL,'Cortical cytoskeleton protein found in a complex involved in maintaining cell polarity and epithelial integrity. Involved in the regulation of mitotic spindle orientation, proliferation, differentiation and tissue organization of neuroepithelial cells. Involved in axonogenesis through RAB10 activation thereby regulating vesicular membrane trafficking toward the axonal plasma membrane.',NULL,NULL,NULL,NULL,NULL),(9941,'UniProt Function',NULL,11881,NULL,'Central regulator of the metabolic function and bioenergetic state of macrophages. In macrophages, promotes flux through de novo lipogenesis to concomitantly drive high levels of both fatty-acid oxidation and glycolysis.',NULL,NULL,NULL,NULL,NULL),(9942,'UniProt Function',NULL,11883,NULL,'May hydrolyze collagen type IV, fibronectin, fibrinogen, beta-casein, type I gelatin and alpha-1 proteinase inhibitor. Is also able to activate progelatinase B.',NULL,NULL,NULL,NULL,NULL),(9943,'UniProt Function',NULL,11884,NULL,'Sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Involved in cellular amino acid uptake. Acts as an amino acid exchanger. Involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Plays a role in neuronal cell proliferation (neurogenesis) in brain. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. May play an important role in high-grade gliomas. Mediates blood-to-retina L-leucine transport across the inner blood-retinal barrier which in turn may play a key role in maintaining large neutral amino acids as well as neurotransmitters in the neural retina. Acts as the major transporter of tyrosine in fibroblasts. When associated with LAPTM4B, recruits SLC3A2 and SLC7A5 to lysosomes to promote leucine uptake into these organelles and is required for mTORC1 activation (PubMed:25998567).',NULL,NULL,NULL,NULL,NULL),(9944,'UniProt Function',NULL,11885,NULL,'Required for optimal lysosomal function (PubMed:21224396). Blocks EGF-stimulated EGFR intraluminal sorting and degradation. Conversely by binding with the phosphatidylinositol 4,5-bisphosphate, regulates its PIP5K1C interaction, inhibits HGS ubiquitination and relieves LAPTM4B inhibition of EGFR degradation (PubMed:25588945). Recruits SLC3A2 and SLC7A5 (the Leu transporter) to the lysosome, promoting entry of leucine and other essential amino acid (EAA) into the lysosome, stimulating activation of proton-transporting vacuolar (V)-ATPase protein pump (V-ATPase) and hence mTORC1 activation (PubMed:25998567). Plays a role as negative regulator of TGFB1 production in regulatory T cells (PubMed:26126825). Binds ceramide and facilitates its exit from late endosome in order to control cell death pathways (PubMed:26280656).',NULL,NULL,NULL,NULL,NULL),(9945,'UniProt Function',NULL,11886,NULL,'Plays a role in short-term synaptic plasticity in a subset of GABAergic neurons in the brain.',NULL,NULL,NULL,NULL,NULL),(9946,'UniProt Function',NULL,11887,NULL,'Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:22223806). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B3GNT1/B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:25279699).',NULL,NULL,NULL,NULL,NULL),(9947,'UniProt Function',NULL,11888,NULL,'Involved in the biogenesis of the 60S ribosomal subunit. Required for maturation of the 28S rRNA. Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes.',NULL,NULL,NULL,NULL,NULL),(9948,'UniProt Function',NULL,11889,NULL,'Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3beta in vitro. Involved in the formation of the fibrovascular tissues in association with MMP14.',NULL,NULL,NULL,NULL,NULL),(9949,'UniProt Function',NULL,11889,NULL,'PEX, the C-terminal non-catalytic fragment of MMP2, posseses anti-angiogenic and anti-tumor properties and inhibits cell migration and cell adhesion to FGF2 and vitronectin. Ligand for integrinv/beta3 on the surface of blood vessels.',NULL,NULL,NULL,NULL,NULL),(9950,'UniProt Function',NULL,11889,NULL,'Isoform 2: Mediates the proteolysis of CHUK/IKKA and initiates a primary innate immune response by inducing mitochondrial-nuclear stress signaling with activation of the pro-inflammatory NF-kappaB, NFAT and IRF transcriptional pathways.',NULL,NULL,NULL,NULL,NULL),(9951,'UniProt Function',NULL,11890,NULL,'Anchors the lamina and the heterochromatin to the inner nuclear membrane.',NULL,NULL,NULL,NULL,NULL),(9952,'UniProt Function',NULL,11891,NULL,'Acyl-CoA:lysocardiolipin acyltransferase. Possesses both lysophosphatidylinositol acyltransferase (LPIAT) and lysophosphatidylglycerol acyltransferase (LPGAT) activities. Recognizes both monolysocardiolipin and dilysocardiolipin as substrates with a preference for linoleoyl-CoA and oleoyl-CoA as acyl donors. Acts as a remodeling enzyme for cardiolipin, a major membrane polyglycerophospholipid. Converts lysophosphatidic acid (LPA) into phosphatidic acid (PA) with a relatively low activity. Required for establishment of the hematopoietic and endothelial lineages.',NULL,NULL,NULL,NULL,NULL),(9953,'UniProt Function',NULL,11892,NULL,'Might be involved in minus end-directed microtubule transport.',NULL,NULL,NULL,NULL,NULL),(9954,'UniProt Function',NULL,11893,NULL,'Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated platelets, and may function as an extracellular matrix or adhesive protein.',NULL,NULL,NULL,NULL,NULL),(9955,'UniProt Function',NULL,11895,NULL,'Binds galactosides (PubMed:18005988). Has high affinity for the Forssman pentasaccharide (PubMed:18005988). Ligand for HAVCR2/TIM3 (PubMed:16286920). Binding to HAVCR2 induces T-helper type 1 lymphocyte (Th1) death (PubMed:16286920). Also stimulates bactericidal activity in infected macrophages by causing macrophage activation and IL1B secretion which restricts intracellular bacterial growth (By similarity). Ligand for P4HB; the interaction retains P4HB at the cell surface of Th2 T-helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307). Ligand for CD44; the interaction enhances binding of SMAD3 to the FOXP3 promoter, leading to up-regulation of FOXP3 expression and increased induced regulatory T (iTreg) cell stability and suppressive function (By similarity). Promotes ability of mesenchymal stromal cells to suppress T-cell proliferation (PubMed:23817958). Expands regulatory T-cells and induces cytotoxic T-cell apoptosis following virus infection (PubMed:20209097). Activates ERK1/2 phosphorylation inducing cytokine (IL-6, IL-8, IL-12) and chemokine (CCL2) production in mast and dendritic cells (PubMed:24465902, PubMed:16116184). Inhibits degranulation and induces apoptosis of mast cells (PubMed:24465902). Induces maturation and migration of dendritic cells (PubMed:25754930, PubMed:16116184). Inhibits natural killer (NK) cell function (PubMed:23408620). Can transform NK cell phenotype from peripheral to decidual during pregnancy (PubMed:25578313). Astrocyte derived galectin-9 enhances microglial TNF production (By similarity). May play a role in thymocyte-epithelial interactions relevant to the biology of the thymus. May provide the molecular basis for urate flux across cell membranes, allowing urate that is formed during purine metabolism to efflux from cells and serving as an electrogenic transporter that plays an important role in renal and gastrointestinal urate excretion (By similarity). Highly selective to the anion urate (By similarity).',NULL,NULL,NULL,NULL,NULL),(9956,'UniProt Function',NULL,11895,NULL,'Isoform 2: Acts as an eosinophil chemoattractant (PubMed:9642261). It also inhibits angiogenesis (PubMed:24333696). Suppresses IFNG production by natural killer cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(9957,'UniProt Function',NULL,11896,NULL,'Ligand of the T-lymphocyte CD2 glycoprotein. This interaction is important in mediating thymocyte interactions with thymic epithelial cells, antigen-independent and -dependent interactions of T-lymphocytes with target cells and antigen-presenting cells and the T-lymphocyte rosetting with erythrocytes. In addition, the LFA-3/CD2 interaction may prime response by both the CD2+ and LFA-3+ cells.',NULL,NULL,NULL,NULL,NULL),(9958,'UniProt Function',NULL,11897,NULL,'Required for left-right axis determination as a regulator of LEFTY2 and NODAL.',NULL,NULL,NULL,NULL,NULL),(9959,'UniProt Function',NULL,11898,NULL,'Lysophosphatidylglycerol (LPG) specific acyltransferase that recognizes various acyl-CoAs and LPGs as substrates but demonstrates a clear preference for long chain saturated fatty acyl-CoAs and oleoyl-CoA as acyl donors. Prefers oleoyl-LPG over palmitoyl-LPG as an acyl receptor and oleoyl-CoA over lauroyl-CoA as an acyl donor.',NULL,NULL,NULL,NULL,NULL),(9960,'UniProt Function',NULL,11899,NULL,'Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors (By similarity). Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway. May play a role in the control of neuroblastoma cell survival.',NULL,NULL,NULL,NULL,NULL),(9961,'UniProt Function',NULL,11900,NULL,'Component of the DREAM complex, a multiprotein complex that can both act as a transcription activator or repressor depending on the context (PubMed:17671431, PubMed:17531812). In G0 phase, the complex binds to more than 800 promoters and is required for repression of E2F target genes (PubMed:17671431, PubMed:17531812). In S phase, the complex selectively binds to the promoters of G2/M genes whose products are required for mitosis and participates in their cell cycle dependent activation (PubMed:17671431, PubMed:17531812). In the complex, acts as a DNA-binding protein that binds the promoter of CDK1 in a sequence-specific manner (PubMed:19725879). Specifically recognizes the consensus motif 5\'-TTYRAA-3\' in target DNA (PubMed:27465258).',NULL,NULL,NULL,NULL,NULL),(9962,'UniProt Function',NULL,11901,NULL,'Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Plays a role in modulating cell spreading and migration.',NULL,NULL,NULL,NULL,NULL),(9963,'UniProt Function',NULL,11902,NULL,'The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL) (PubMed:27578112). Binding to heparin sulfate proteogylcans at the cell surface is vital to the function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal surface of vascular endothelium (By similarity).',NULL,NULL,NULL,NULL,NULL),(9964,'UniProt Function',NULL,11904,NULL,'Metalloprotease.',NULL,NULL,NULL,NULL,NULL),(9965,'UniProt Function',NULL,11906,NULL,'May act as receptor for class I MHC antigens. Becomes activated upon coligation of LILRB3 and immune receptors, such as FCGR2B and the B-cell receptor. Down-regulates antigen-induced B-cell activation by recruiting phosphatases to its immunoreceptor tyrosine-based inhibitor motifs (ITIM).',NULL,NULL,NULL,NULL,NULL),(9966,'UniProt Function',NULL,11907,NULL,'Probable LCN1 receptor. May mediate LCN1 endocytosis.',NULL,NULL,NULL,NULL,NULL),(9967,'UniProt Function',NULL,11908,NULL,'Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced dioxygenase activity compared to other lipoxygenases. The hydroperoxide isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by ALOX12B, into hepoxilin-type epoxyalcohols. The dioxygenase activity requires a step of activation of the enzyme by molecular oxygen. In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid, to produce fatty acid hydroperoxides. In the skin, acts downstream of ALOX12B on the linoleate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss. In parallel, it may have a signaling function in barrier formation through the production of hepoxilins metabolites. Plays also a role in adipocyte differentiation through hepoxilin A3 and hepoxilin B3 production which in turn activate PPARG. Through the production of hepoxilins in the spinal cord, it may regulate inflammatory tactile allodynia.',NULL,NULL,NULL,NULL,NULL),(9968,'UniProt Function',NULL,11909,NULL,'May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates.',NULL,NULL,NULL,NULL,NULL),(9969,'UniProt Function',NULL,11910,NULL,'Actin-binding protein involved in actin cytoskeleton regulation and dynamics. Increases the number and size of actin stress fibers and inhibits membrane ruffling. Inhibits actin filament depolymerization. Bundles actin filaments, delays filament nucleation and reduces formation of branched filaments (PubMed:12566430). Plays a role in cholesterol homeostasis. Influences plasma cholesterol levels through regulation of intestinal cholesterol absorption. May act as a scaffold protein by regulating NPC1L1 transportation, an essential protein for cholesterol absorption, to the plasma membrane by recruiting MYO5B to NPC1L1, and thus facilitates cholesterol uptake (By similarity).',NULL,NULL,NULL,NULL,NULL),(9970,'UniProt Function',NULL,11911,NULL,'Lipase with broad substrate specificity. Can hydrolyze both phospholipids and galactolipids. Acts preferentially on monoglycerides, phospholipids and galactolipids. Contributes to milk fat hydrolysis.',NULL,NULL,NULL,NULL,NULL),(9971,'UniProt Function',NULL,11913,NULL,'Plays a role as an intracellular lectin in the early secretory pathway. Interacts with N-acetyl-D-galactosamine and high-mannose type glycans and may also bind to O-linked glycans. Involved in the transport and sorting of glycoproteins carrying high mannose-type glycans (By similarity).',NULL,NULL,NULL,NULL,NULL),(9972,'UniProt Function',NULL,11914,NULL,'Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity).',NULL,NULL,NULL,NULL,NULL),(9973,'UniProt Function',NULL,11915,NULL,'Putative membrane receptor.',NULL,NULL,NULL,NULL,NULL),(9974,'UniProt Function',NULL,11916,NULL,'May play a structural role at sites of cell adhesion in maintaining cell shape and motility. In addition to these structural functions, it may also be implicated in signaling events and activation of gene transcription. May be involved in signal transduction from cell adhesion sites to the nucleus allowing successful integration of signals arising from soluble factors and cell-cell adhesion sites. Also suggested to serve as a scaffold protein upon which distinct protein complexes are assembled in the cytoplasm and in the nucleus.',NULL,NULL,NULL,NULL,NULL),(9975,'UniProt Function',NULL,11924,NULL,'Highly expressed in stem cells where it may be involved in regulation of pluripotency. In embryonic stem cells (ESCs), important for normal expression of the pluripotency regulators POU5F1/OCT4 and KLF4. Also important for expression of the ectodermal marker gene NES and the endodermal marker gene GATA4. Promotes stem cell proliferation in vitro.',NULL,NULL,NULL,NULL,NULL),(9976,'UniProt Function',NULL,11925,NULL,'Synaptic adhesion protein. Regulates the formation of exitatory synapses through the recruitment of pre-and-postsynaptic proteins. Organize the lamina/pathway-specific differentiation of dendrites. Plays a important role for auditory synaptic responses. Involved in the suppression of glioma (By similarity).',NULL,NULL,NULL,NULL,NULL),(9977,'UniProt Function',NULL,11926,NULL,'Component of the sarcomeric M-band which plays a role in myocyte response to biomechanical stress. May regulate expression of other M-band proteins via an SRF-dependent pathway. Important for normal contractile function in heart.',NULL,NULL,NULL,NULL,NULL),(9978,'UniProt Function',NULL,11927,NULL,'May function as activator of the canonical Wnt signaling pathway, in association with DVL3, upstream of CTNNB1/beta-catenin. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding.',NULL,NULL,NULL,NULL,NULL),(9979,'UniProt Function',NULL,11928,NULL,'Essential for formation of P-bodies, cytoplasmic structures that provide storage sites for non-translating mRNAs.',NULL,NULL,NULL,NULL,NULL),(9980,'UniProt Function',NULL,11929,NULL,'Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation, acting at both pre- and postsynaptic level.',NULL,NULL,NULL,NULL,NULL),(9981,'UniProt Function',NULL,11930,NULL,'Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B (By similarity). In the kidney, mediates the tubular uptake and clearance of leptin (By similarity). Also mediates transport of leptin across the blood-brain barrier through endocytosis at the choroid plexus epithelium (By similarity). Endocytosis of leptin in neuronal cells is required for hypothalamic leptin signaling and leptin-mediated regulation of feeding and body weight (By similarity). Mediates endocytosis and subsequent lysosomal degradation of CST3 in kidney proximal tubule cells (By similarity). Mediates renal uptake of 25-hydroxyvitamin D3 in complex with the vitamin D3 transporter GC/DBP (By similarity). Mediates renal uptake of metallothionein-bound heavy metals (PubMed:15126248). Together with CUBN, mediates renal reabsorption of myoglobin (By similarity). Mediates renal uptake and subsequent lysosomal degradation of APOM (By similarity). Plays a role in kidney selenium homeostasis by mediating renal endocytosis of selenoprotein SEPP1 (By similarity). Mediates renal uptake of the antiapoptotic protein BIRC5/survivin which may be important for functional integrity of the kidney (PubMed:23825075). Mediates renal uptake of matrix metalloproteinase MMP2 in complex with metalloproteinase inhibitor TIMP1 (By similarity). Mediates endocytosis of Sonic hedgehog protein N-product (ShhN), the active product of SHH (By similarity). Also mediates ShhN transcytosis (By similarity). In the embryonic neuroepithelium, mediates endocytic uptake and degradation of BMP4, is required for correct SHH localization in the ventral neural tube and plays a role in patterning of the ventral telencephalon (By similarity). Required at the onset of neurulation to sequester SHH on the apical surface of neuroepithelial cells of the rostral diencephalon ventral midline and to control PTCH1-dependent uptake and intracellular trafficking of SHH (By similarity). During neurulation, required in neuroepithelial cells for uptake of folate bound to the folate receptor FOLR1 which is necessary for neural tube closure (By similarity). In the adult brain, negatively regulates BMP signaling in the subependymal zone which enables neurogenesis to proceed (By similarity). In astrocytes, mediates endocytosis of ALB which is required for the synthesis of the neurotrophic factor oleic acid (By similarity). Involved in neurite branching (By similarity). During optic nerve development, required for SHH-mediated migration and proliferation of oligodendrocyte precursor cells (By similarity). Mediates endocytic uptake and clearance of SHH in the retinal margin which protects retinal progenitor cells from mitogenic stimuli and keeps them quiescent (By similarity). Plays a role in reproductive organ development by mediating uptake in reproductive tissues of androgen and estrogen bound to the sex hormone binding protein SHBG (By similarity). Mediates endocytosis of angiotensin-2 (By similarity). Also mediates endocytosis of angiotensis 1-7 (By similarity). Binds to the complex composed of beta-amyloid protein 40 and CLU/APOJ and mediates its endocytosis and lysosomal degradation (By similarity). Required for embryonic heart development (By similarity). Required for normal hearing, possibly through interaction with estrogen in the inner ear (By similarity).',NULL,NULL,NULL,NULL,NULL),(9982,'UniProt Function',NULL,11932,NULL,'As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. When complexed to BIRC5, interferes with apoptosome assembly, preventing recruitment of pro-caspase-9 to oligomerized APAF1, thereby selectively suppressing apoptosis initiated via the mitochondrial/cytochrome c pathway. Down-regulates hepatitis B virus (HBV) replication.',NULL,NULL,NULL,NULL,NULL),(9983,'UniProt Function',NULL,11933,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(9984,'UniProt Function',NULL,11934,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(9985,'UniProt Function',NULL,11935,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(9986,'UniProt Function',NULL,11936,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(9987,'UniProt Function',NULL,11937,NULL,'Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base.',NULL,NULL,NULL,NULL,NULL),(9988,'UniProt Function',NULL,11938,NULL,'Involved in transport of proteins into the mitochondrion.',NULL,NULL,NULL,NULL,NULL),(9989,'UniProt Function',NULL,11940,NULL,'Major glycoprotein component of a variety of mucus gels. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces (By similarity).',NULL,NULL,NULL,NULL,NULL),(9990,'UniProt Function',NULL,11941,NULL,'Gel-forming glycoprotein of gastric and respiratoy tract epithelia that protects the mucosa from infection and chemical damage by binding to inhaled microrganisms and particles that are subsequently removed by the mucocilary system.',NULL,NULL,NULL,NULL,NULL),(9991,'UniProt Function',NULL,11942,NULL,'May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen. Plays an important role in the cytoprotection of epithelial surfaces and are used as tumor markers in a variety of cancers. May play a role in epithelial organogenesis.',NULL,NULL,NULL,NULL,NULL),(9992,'UniProt Function',NULL,11943,NULL,'May function in a protective capacity by promoting the clearance of bacteria in the oral cavity and aiding in mastication, speech, and swallowing. Binds P.aeruginosa pili.',NULL,NULL,NULL,NULL,NULL),(9993,'UniProt Function',NULL,11944,NULL,'May play a role as marker for the diagnosis of metastatic breast cancer.',NULL,NULL,NULL,NULL,NULL),(9994,'UniProt Function',NULL,11945,NULL,'Plays a role in female and male fertility. Involved in distal reproductive tract development.',NULL,NULL,NULL,NULL,NULL),(9995,'UniProt Function',NULL,11946,NULL,'May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates.',NULL,NULL,NULL,NULL,NULL),(9996,'UniProt Function',NULL,11949,NULL,'Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway. Each LMF1 molecule chaperones 50 or more molecules of LPL.',NULL,NULL,NULL,NULL,NULL),(9997,'UniProt Function',NULL,11950,NULL,'Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Transduces a signal by increasing the intracellular calcium ions and by stimulating adenylyl cyclase activity. The rank order of potency for agonists of this receptor is 1-oleoyl- > 1-stearoyl- > 1-palmitoyl- > 1-myristoyl- > 1-alkyl- > 1-alkenyl-LPA.',NULL,NULL,NULL,NULL,NULL),(9998,'UniProt Function',NULL,11951,NULL,'Plays important roles in controlling the metabolism of fatty acids at different levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A/PPARA to modulate lipid metabolism gene expression (By similarity). Is involved in adipocyte differentiation. May also be involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol (By similarity).',NULL,NULL,NULL,NULL,NULL),(9999,'UniProt Function',NULL,11952,NULL,'Involved in nuclear structure organization (PubMed:16339967). Required for maintaining the integrity of the nuclear envelope (PubMed:17097643).',NULL,NULL,NULL,NULL,NULL),(10000,'UniProt Function',NULL,11952,NULL,'Required for embryonic development and is involved in regulation of several signaling pathways such as MAPK and AKT. Required for myoblast differentiation involving regulation of ERK signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(10001,'UniProt Function',NULL,11953,NULL,'Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways (PubMed:17344214, PubMed:15899045, PubMed:19688109). In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones. In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic for endothelial cell and affects innate and adaptive immunity (By similarity) (PubMed:8589726, PubMed:11460888, PubMed:19688109, PubMed:24340098, PubMed:25060689). In the arcuate nucleus of the hypothalamus, activates by depolarization POMC neurons inducing FOS and SOCS3 expression to release anorexigenic peptides and inhibits by hyperpolarization NPY neurons inducing SOCS3 with a consequent reduction on release of orexigenic peptides (By similarity). In addition to its known satiety inducing effect, has a modulatory role in nutrient absorption. In the intestine, reduces glucose absorption by enterocytes by activating PKC and leading to a sequential activation of p38, PI3K and ERK signaling pathways which exerts an inhibitory effect on glucose absorption (PubMed:24340098). Acts as a growth factor on certain tissues, through the activation of different signaling pathways increases expression of genes involved in cell cycle regulation such as CCND1, via JAK2-STAT3 pathway, or VEGFA, via MAPK1/3 and PI3K-AKT1 pathways (By similarity) (PubMed:17344214). May also play an apoptotic role via JAK2-STAT3 pathway and up-regulation of BIRC5 expression (PubMed:18242580). Pro-angiogenic, has mitogenic activity on vascular endothelial cells and plays a role in matrix remodeling by regulating the expression of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) (PubMed:11460888). In innate immunity, modulates the activity and function of neutrophils by increasing chemotaxis and the secretion of oxygen radicals. Increases phagocytosis by macrophages and enhances secretion of pro-inflammatory mediators. Increases cytotoxic ability of NK cells (PubMed:12504075). Plays a pro-inflammatory role, in synergy with IL1B, by inducing NOS2 wich promotes the production of IL6, IL8 and Prostaglandin E2, through a signaling pathway that involves JAK2, PI3K, MAP2K1/MEK1 and MAPK14/p38 (PubMed:15899045, PubMed:19688109). In adaptive immunity, promotes the switch of memory T-cells towards T helper-1 cell immune responses (By similarity). Increases CD4(+)CD25(-) T-cell proliferation and reduces autophagy during TCR (T-cell receptor) stimulation, through MTOR signaling pathway activation and BCL2 up-regulation (PubMed:25060689).',NULL,NULL,NULL,NULL,NULL),(10002,'UniProt Function',NULL,11955,NULL,'Involved in epithelial cell protection, adhesion modulation, and signaling. May be involved in epithelial cell growth regulation. Stimulated by both cytokine TNF-alpha and TGF-beta in intestinal epithelium.',NULL,NULL,NULL,NULL,NULL),(10003,'UniProt Function',NULL,11956,NULL,'Promotes integrin-mediated cell adhesion. May stimulate host defense against viruses and tumor cells.',NULL,NULL,NULL,NULL,NULL),(10004,'UniProt Function',NULL,11957,NULL,'Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a stem cell marker of the intestinal epithelium and the hair follicle. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. Involved in the development and/or maintenance of the adult intestinal stem cells during postembryonic development.',NULL,NULL,NULL,NULL,NULL),(10005,'UniProt Function',NULL,11958,NULL,'Plays an essential role in the regulation of neuronal differentiation and migration during development of the central nervous system.',NULL,NULL,NULL,NULL,NULL),(10006,'UniProt Function',NULL,11959,NULL,'Involved in gonadal development.',NULL,NULL,NULL,NULL,NULL),(10007,'UniProt Function',NULL,11960,NULL,'Functional component of the Nogo receptor signaling complex (RTN4R/NGFR) in RhoA activation responsible for some inhibition of axonal regeneration by myelin-associated factors (PubMed:14966521, PubMed:15694321). Is also an important negative regulator of oligodentrocyte differentiation and axonal myelination (PubMed:15895088). Acts in conjunction with RTN4 and RTN4R in regulating neuronal precursor cell motility during cortical development (By similarity).',NULL,NULL,NULL,NULL,NULL),(10008,'UniProt Function',NULL,11961,NULL,'May act as receptor for class I MHC antigens.',NULL,NULL,NULL,NULL,NULL),(10009,'UniProt Function',NULL,11962,NULL,'In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production.',NULL,NULL,NULL,NULL,NULL),(10010,'UniProt Function',NULL,11963,NULL,'Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG).',NULL,NULL,NULL,NULL,NULL),(10011,'UniProt Function',NULL,11965,NULL,'J region of the variable domain of immunoglobulin lambda light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(10012,'UniProt Function',NULL,11966,NULL,'May negatively regulate the 4-1BB-mediated signaling cascades which result in the activation of NK-kappaB and JNK1. Probable substrate recognition subunit of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(10013,'UniProt Function',NULL,11967,NULL,'May play a role in triggering innate immune responses. Does not seem to play a role for any class I MHC antigen recognition.',NULL,NULL,NULL,NULL,NULL),(10014,'UniProt Function',NULL,11968,NULL,'Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Its association with a chromatin-remodeling complex suggests that it may contribute to prevent expression of genes that trigger the cell into mitosis. Binds to monomethylated and dimethylated \'Lys-20\' on histone H4. Binds histone H3 peptides that are monomethylated or dimethylated on \'Lys-4\', \'Lys-9\' or \'Lys-27\'.',NULL,NULL,NULL,NULL,NULL),(10015,'UniProt Function',NULL,11970,NULL,'Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae (By similarity).',NULL,NULL,NULL,NULL,NULL),(10016,'UniProt Function',NULL,11971,NULL,'Protein-lysine 6-oxidase that mediates the oxidation of peptidyl lysine residues to allysine in target proteins (PubMed:17018530, PubMed:28065600). Catalyzes the post-translational oxidative deamination of peptidyl lysine residues in precursors of elastin and different types of collagens, a prerequisite in the formation of cross-links between collagens and elastin (PubMed:17018530). Required for somite boundary formation by catalyzing oxidation of fibronectin (FN1), enhancing integrin signaling in myofibers and their adhesion to the myotendinous junction (MTJ) (By similarity). Acts as a regulator of inflammatory response by inhibiting differentiation of naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells (Treg): acts by interacting with STAT3 in the nucleus and catalyzing both deacetylation and oxidation of lysine residues on STAT3, leading to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (PubMed:28065600). Also able to catalyze deacetylation of lysine residues on STAT3 (PubMed:28065600).',NULL,NULL,NULL,NULL,NULL),(10017,'UniProt Function',NULL,11971,NULL,'Isoform 1: Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type VIII (PubMed:17018530).',NULL,NULL,NULL,NULL,NULL),(10018,'UniProt Function',NULL,11971,NULL,'Isoform 2: Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type IV (PubMed:17018530).',NULL,NULL,NULL,NULL,NULL),(10019,'UniProt Function',NULL,11973,NULL,'Receptor for hormone LEP/leptin (Probable) (PubMed:22405007). On ligand binding, mediates LEP central and peripheral effects through the activation of different signaling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones (By similarity) (PubMed:9537324). In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic and affects innate and adaptive immunity (PubMed:25060689, PubMed:12504075, PubMed:8805376). Control of energy homeostasis and melanocortin production (stimulation of POMC and full repression of AgRP transcription) is mediated by STAT3 signaling, whereas distinct signals regulate NPY and the control of fertility, growth and glucose homeostasis. Involved in the regulation of counter-regulatory response to hypoglycemia by inhibiting neurons of the parabrachial nucleus. Has a specific effect on T lymphocyte responses, differentially regulating the proliferation of naive and memory T -ells. Leptin increases Th1 and suppresses Th2 cytokine production (By similarity).',NULL,NULL,NULL,NULL,NULL),(10020,'UniProt Function',NULL,11973,NULL,'Isoform A: May transport LEP across the blood-brain barrier. Binds LEP and mediates LEP endocytosis. Does not induce phosphorylation of and activate STAT3.',NULL,NULL,NULL,NULL,NULL),(10021,'UniProt Function',NULL,11973,NULL,'Isoform E: Antagonizes Isoform A and isoform B-mediated LEP binding and endocytosis.',NULL,NULL,NULL,NULL,NULL),(10022,'UniProt Function',NULL,11974,NULL,'Cooperates with AGTR2 to inhibit ERK2 activation and cell proliferation. May be required for AGTR2 cell surface expression. Together with PTPN6, induces UBE2V2 expression upon angiotensin-II stimulation. Isoform 1 inhibits breast cancer cell proliferation, delays the progression of mitosis by prolonging metaphase and reduces tumor growth.',NULL,NULL,NULL,NULL,NULL),(10023,'UniProt Function',NULL,11975,NULL,'May play a role in the cell adhesion to the extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(10024,'UniProt Function',NULL,11976,NULL,'Probably plays a role in maintaining homeostasis on mucosal surfaces.',NULL,NULL,NULL,NULL,NULL),(10025,'UniProt Function',NULL,11977,NULL,'May function in ocular mucus homeostasis.',NULL,NULL,NULL,NULL,NULL),(10026,'UniProt Function',NULL,11979,NULL,'May modulate NF-kappaB signaling and play a role in cell growth.',NULL,NULL,NULL,NULL,NULL),(10027,'UniProt Function',NULL,11980,NULL,'May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung. Binds preferentially to methylated DNA (PubMed:28473536).',NULL,NULL,NULL,NULL,NULL),(10028,'UniProt Function',NULL,11981,NULL,'Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells.',NULL,NULL,NULL,NULL,NULL),(10029,'UniProt Function',NULL,11982,NULL,'Acts as an activator of the protein-kinase ILK, thereby regulating cell motility (PubMed:24590809).',NULL,NULL,NULL,NULL,NULL),(10030,'UniProt Function',NULL,11986,NULL,'Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Involved in the regulation of cell survival, cell proliferation and cell differentiation.',NULL,NULL,NULL,NULL,NULL),(10031,'UniProt Function',NULL,11987,NULL,'Catalyzes the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes.',NULL,NULL,NULL,NULL,NULL),(10032,'UniProt Function',NULL,11988,NULL,'Acts as soluble receptor for class I MHC antigens. Binds both classical and non-classical HLA class I molecules but with reduced affinities compared to LILRB1 or LILRB2. Binds with high affinity to the surface of monocytes, leading to abolish LPS-induced TNF-alpha production by monocytes.',NULL,NULL,NULL,NULL,NULL),(10033,'UniProt Function',NULL,11989,NULL,'Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins, therey acting as a \'reader\' of a network of post-translational modifications. PcG proteins maintain the transcriptionally repressive state of genes: acts as a chromatin compaction factor by recognizing and binding mono- and dimethylated histone H1b/HIST1H1E at \'Lys-26\' (H1bK26me1 and H1bK26me2) and histone H4 at \'Lys-20\' (H4K20me1 and H4K20me2), leading to condense chromatin and repress transcription. Recognizes and binds p53/TP53 monomethylated at \'Lys-382\', leading to repress p53/TP53-target genes. Also recognizes and binds RB1/RB monomethylated at \'Lys-860\'. Participates in the ETV6-mediated repression. Probably plays a role in cell proliferation. Overexpression induces multinucleated cells, suggesting that it is required to accomplish normal mitosis.',NULL,NULL,NULL,NULL,NULL),(10034,'UniProt Function',NULL,11990,NULL,'Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Receptor for H301/UL18, a human cytomegalovirus class I MHC homolog. Ligand binding results in inhibitory signals and down-regulation of the immune response. Engagement of LILRB1 present on natural killer cells or T-cells by class I MHC molecules protects the target cells from lysis. Interaction with HLA-B or HLA-E leads to inhibition of FCER1A signaling and serotonin release. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions (PubMed:11907092, PubMed:9285411, PubMed:9842885). Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (PubMed:16455647). Upon interaction with peptide-bound HLA-G-B2M complex, triggers secretion of growth-promoting factors by decidual NK cells (PubMed:29262349, PubMed:19304799). Reprograms B cells toward an immune suppressive phenotype (PubMed:24453251).',NULL,NULL,NULL,NULL,NULL),(10035,'UniProt Function',NULL,11991,NULL,'Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Involved in the down-regulation of the immune response and the development of tolerance. Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (peptide-bound HLA-G-B2M) triggering differentiation of type 1 regulatory T cells and myeloid-derived suppressor cells, both of which actively maintain maternal-fetal tolerance (PubMed:20448110, PubMed:27859042, PubMed:16455647). Competes with CD8A for binding to class I MHC antigens. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions (PubMed:11875462, PubMed:12853576, PubMed:9548455, PubMed:9842885).',NULL,NULL,NULL,NULL,NULL),(10036,'UniProt Function',NULL,11992,NULL,'Phosphorylates PPP1C, phosphorylase b and CFTR.',NULL,NULL,NULL,NULL,NULL),(10037,'UniProt Function',NULL,11993,NULL,'Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin.',NULL,NULL,NULL,NULL,NULL),(10038,'UniProt Function',NULL,11994,NULL,'Beta-galactoside-binding lectin that acts as a sensor of membrane damage caused by infection and restricts the proliferation of infecting pathogens by targeting them for autophagy (PubMed:22246324, PubMed:28077878). Detects membrane rupture by binding beta-galactoside ligands located on the lumenal side of the endosome membrane; these ligands becoming exposed to the cytoplasm following rupture (PubMed:22246324, PubMed:28077878). Restricts infection by initiating autophagy via interaction with CALCOCO2/NDP52 (PubMed:22246324, PubMed:28077878). Required to restrict infection of bacterial invasion such as S.typhimurium (PubMed:22246324). Also required to restrict infection of Picornaviridae viruses (PubMed:28077878). Has a marked preference for 3\'-O-sialylated and 3\'-O-sulfated glycans (PubMed:21288902).',NULL,NULL,NULL,NULL,NULL),(10039,'UniProt Function',NULL,11995,NULL,'Does not bind lactose, and may not bind carbohydrates.',NULL,NULL,NULL,NULL,NULL),(10040,'UniProt Function',NULL,11996,NULL,'Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By similarity).',NULL,NULL,NULL,NULL,NULL),(10041,'UniProt Function',NULL,11997,NULL,'Required for left-right (L-R) asymmetry determination of organ systems in mammals. May play a role in endometrial bleeding.',NULL,NULL,NULL,NULL,NULL),(10042,'UniProt Function',NULL,11998,NULL,'Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives.',NULL,NULL,NULL,NULL,NULL),(10043,'UniProt Function',NULL,11999,NULL,'May be involved in ATE1-mediated N-terminal arginylation.',NULL,NULL,NULL,NULL,NULL),(10044,'UniProt Function',NULL,12000,NULL,'Involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and TCR (T-cell antigen receptor)-mediated T-cell signaling in T-cells. In absence of TCR signaling, may be involved in CD4-mediated inhibition of T-cell activation. Couples activation of these receptors and their associated kinases with distal intracellular events such as calcium mobilization or MAPK activation through the recruitment of PLCG2, GRB2, GRAP2, and other signaling molecules.',NULL,NULL,NULL,NULL,NULL),(10045,'UniProt Function',NULL,12002,NULL,'Serine/threonine-protein kinase that plays an essential role in the regulation of actin filament dynamics. Acts downstream of several Rho family GTPase signal transduction pathways. Activated by upstream kinases including ROCK1, PAK1 and PAK4, which phosphorylate LIMK1 on a threonine residue located in its activation loop. LIMK1 subsequently phosphorylates and inactivates the actin binding/depolymerizing factors cofilin-1/CFL1, cofilin-2/CFL2 and destrin/DSTN, thereby preventing the cleavage of filamentous actin (F-actin), and stabilizing the actin cytoskeleton. In this way LIMK1 regulates several actin-dependent biological processes including cell motility, cell cycle progression, and differentiation. Phosphorylates TPPP on serine residues, thereby promoting microtubule disassembly. Stimulates axonal outgrowth and may be involved in brain development. Isoform 3 has a dominant negative effect on actin cytoskeletal changes. Required for atypical chemokine receptor ACKR2-induced phosphorylation of cofilin (CFL1).',NULL,NULL,NULL,NULL,NULL),(10046,'UniProt Function',NULL,12003,NULL,'Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells.',NULL,NULL,NULL,NULL,NULL),(10047,'UniProt Function',NULL,12004,NULL,'Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers.',NULL,NULL,NULL,NULL,NULL),(10048,'UniProt Function',NULL,12006,NULL,'May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53.',NULL,NULL,NULL,NULL,NULL),(10049,'UniProt Function',NULL,12007,NULL,'Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Required for normal maturation of myeloid progenitor cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(10050,'UniProt Function',NULL,12009,NULL,'Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis.',NULL,NULL,NULL,NULL,NULL),(10051,'UniProt Function',NULL,12010,NULL,'Probable transcriptional factor.',NULL,NULL,NULL,NULL,NULL),(10052,'UniProt Function',NULL,12011,NULL,'Metalloprotease.',NULL,NULL,NULL,NULL,NULL),(10053,'UniProt Function',NULL,12013,NULL,'May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.',NULL,NULL,NULL,NULL,NULL),(10054,'UniProt Function',NULL,12014,NULL,'May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.',NULL,NULL,NULL,NULL,NULL),(10055,'UniProt Function',NULL,12015,NULL,'Hepatic lipase has the capacity to catalyze hydrolysis of phospholipids, mono-, di-, and triglycerides, and acyl-CoA thioesters. It is an important enzyme in HDL metabolism. Hepatic lipase binds heparin.',NULL,NULL,NULL,NULL,NULL),(10056,'UniProt Function',NULL,12017,NULL,'Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers.',NULL,NULL,NULL,NULL,NULL),(10057,'UniProt Function',NULL,12019,NULL,'Epoxide hydrolase that catalyzes the final step in the biosynthesis of the proinflammatory mediator leukotriene B4. Has also aminopeptidase activity.',NULL,NULL,NULL,NULL,NULL),(10058,'UniProt Function',NULL,12020,NULL,'May act as receptor for class I MHC antigens.',NULL,NULL,NULL,NULL,NULL),(10059,'UniProt Function',NULL,12021,NULL,'Part of the innate immune responses against microbial infection (PubMed:12529506, PubMed:27572839). Specifically recognizes a set of N-terminally truncated immunoglobulins that are produced via cleavage by proteases from a range of pathogenic bacteria and fungi, including L.pneumophila, M.hyorhinis, S.pneumoniae, S.aureus and C.albicans (PubMed:27572839). Recognizes epitopes that are in part in the variable region of the immunoglobulin light chains, but requires also the constant region for signaling (PubMed:27572839). Binds to a subset of cleaved IgM, IgG3 and IgG4 molecules, but does not bind cleaved IgA1 (PubMed:27572839). Binding of N-terminally truncated immunoglobulins mediates activation of neutrophils (PubMed:27572839). In monocytes, activation leads to the release of CSF2, CF3, IL6, CXCL8 and CCL3 and down-regulates responses to bacterial lipopolysaccharide (LPS), possibly via down-regulation of TLR4 expression and reduced signaling via TLR4 (PubMed:22479404). In eosinophils, activation by ligand binding leads to the release of RNASE2, IL4 and leukotriene C4 (PubMed:12529506). Does not bind class I MHC antigens (PubMed:19230061).',NULL,NULL,NULL,NULL,NULL),(10060,'UniProt Function',NULL,12022,NULL,'Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:22431096, PubMed:10814726, PubMed:11799477, PubMed:18551513). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920).',NULL,NULL,NULL,NULL,NULL),(10061,'UniProt Function',NULL,12022,NULL,'Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence.',NULL,NULL,NULL,NULL,NULL),(10062,'UniProt Function',NULL,12023,NULL,'Transcriptional cofactor that restricts GATA6 function by inhibiting DNA-binding, resulting in repression of GATA6 transcriptional activation of downstream target genes. Represses GATA6-mediated trans activation of lung- and cardiac tissue-specific promoters. Inhibits DNA-binding by GATA4 and GATA1 to the cTNC promoter (By similarity). Plays a critical role in the development of cardiac hypertrophy via activation of calcineurin/nuclear factor of activated T-cells signaling pathway.',NULL,NULL,NULL,NULL,NULL),(10063,'UniProt Function',NULL,12024,NULL,'Mediates nucleation of actin filaments.',NULL,NULL,NULL,NULL,NULL),(10064,'UniProt Function',NULL,12026,NULL,'LPH splits lactose in the small intestine.',NULL,NULL,NULL,NULL,NULL),(10065,'UniProt Function',NULL,12030,NULL,'Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3\'-terminal U-tract of U6 snRNA (PubMed:10523320).',NULL,NULL,NULL,NULL,NULL),(10066,'UniProt Function',NULL,12031,NULL,'Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin. Required for posterior patterning of the epiblast during gastrulation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10067,'UniProt Function',NULL,12033,NULL,'May play a role in the development and maintenance of the vertebrate nervous system. Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10068,'UniProt Function',NULL,12034,NULL,'NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.',NULL,NULL,NULL,NULL,NULL),(10069,'UniProt Function',NULL,12035,NULL,'Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418).',NULL,NULL,NULL,NULL,NULL),(10070,'UniProt Function',NULL,12036,NULL,'Catalyzes the conjugation of leukotriene A4 with reduced glutathione to form leukotriene C4.',NULL,NULL,NULL,NULL,NULL),(10071,'UniProt Function',NULL,12037,NULL,'Lectin that binds beta-galactoside and a wide array of complex carbohydrates. Plays a role in regulating apoptosis, cell proliferation and cell differentiation. Inhibits CD45 protein phosphatase activity and therefore the dephosphorylation of Lyn kinase. Strong inducer of T-cell apoptosis.',NULL,NULL,NULL,NULL,NULL),(10072,'UniProt Function',NULL,12040,NULL,'In the inner ear, may be a component of the hair cell\'s mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10073,'UniProt Function',NULL,12042,NULL,'Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation.',NULL,NULL,NULL,NULL,NULL),(10074,'UniProt Function',NULL,12043,NULL,'Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Required for dynein recruitment to microtubule plus ends and BICD2-bound cargos (PubMed:22956769).',NULL,NULL,NULL,NULL,NULL),(10075,'UniProt Function',NULL,12045,NULL,'May function as inhibitor of dietary triglyceride digestion. Lacks detectable lipase activity towards triglycerides, diglycerides, phosphatidylcholine, galactolipids or cholesterol esters (in vitro) (By similarity).',NULL,NULL,NULL,NULL,NULL),(10076,'UniProt Function',NULL,12046,NULL,'Involved in the maturation of specific proteins in the endoplasmic reticulum. May be required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(10077,'UniProt Function',NULL,12047,NULL,'Suppressor of microRNA (miRNA) biogenesis, including that of let-7 and possibly of miR107, miR-143 and miR-200c. Binds primary let-7 transcripts (pri-let-7), including pri-let-7g and pri-let-7a-1, and sequester them in the nucleolus, away from the microprocessor complex, hence preventing their processing into mature miRNA (PubMed:22118463). Does not act on pri-miR21 (PubMed:22118463). The repression of let-7 expression is required for normal development and contributes to maintain the pluripotent state of embryonic stem cells by preventing let-7-mediated differentiation. When overexpressed, recruits ZCCHC11/TUT4 uridylyltransferase to pre-let-7 transcripts, leading to their terminal uridylation and degradation (PubMed:19703396). This activity might not be relevant in vivo, as LIN28B-mediated inhibition of let-7 miRNA maturation appears to be ZCCHC11-independent (PubMed:22118463). Interaction with target pre-miRNAs occurs via an 5\'-GGAG-3\' motif in the pre-miRNA terminal loop. Mediates MYC-induced let-7 repression (By similarity). When overexpressed, isoform 1 stimulates growth of the breast adenocarcinoma cell line MCF-7. Isoform 2 has no effect on cell growth.',NULL,NULL,NULL,NULL,NULL),(10078,'UniProt Function',NULL,12048,NULL,'Has a reverse transcriptase activity required for target-primed reverse transcription of the LINE-1 element mRNA, a crucial step in LINE-1 retrotransposition. Has also an endonuclease activity that allows the introduction of nicks in the chromosomal target DNA. Cleaves DNA in AT-rich regions between a 5\' stretch of purines and a 3\' stretch of pyrimidines, corresponding to sites of LINE-1 integration in the genome.',NULL,NULL,NULL,NULL,NULL),(10079,'UniProt Function',NULL,12049,NULL,'Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(10080,'UniProt Function',NULL,12050,NULL,'Required for nuclear import of FGF1, but not that of FGF2. Might regulate nuclear import of exogenous FGF1 by facilitating interaction with the nuclear import machinery and by transporting cytosolic FGF1 to, and possibly through, the nuclear pores.',NULL,NULL,NULL,NULL,NULL),(10081,'UniProt Function',NULL,12051,NULL,'Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:19750484, PubMed:19651619, PubMed:22278742). Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (PubMed:22278742). Able to outcompete LTBP1 for binding to LAP regulatory chain of TGF-beta (PubMed:22278742). Controls activation of TGF-beta-1 (TGFB1) on the surface of activated regulatory T-cells (Tregs) (PubMed:19750484, PubMed:19651619). Required for epithelial fusion during palate development by regulating activation of TGF-beta-3 (TGFB3) (By similarity).',NULL,NULL,NULL,NULL,NULL),(10082,'UniProt Function',NULL,12052,NULL,'Renders cells highly sensitive to the activation by cytokines and lipopolysaccharide (LPS).',NULL,NULL,NULL,NULL,NULL),(10083,'UniProt Function',NULL,12055,NULL,'Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons.',NULL,NULL,NULL,NULL,NULL),(10084,'UniProt Function',NULL,12058,NULL,'Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658, PubMed:28193731). Plays a redundant role in the efflux of amino acids, such as aspartate, in response to osmotic stress (PubMed:28193731). Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24782309, PubMed:24790029, PubMed:26824658, PubMed:28193731). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Mediates the import of the antibiotic blasticidin-S into the cell (PubMed:24782309).',NULL,NULL,NULL,NULL,NULL),(10085,'UniProt Function',NULL,12061,NULL,'GTPase required for the XPO1/CRM1-mediated nuclear export of the 60S ribosomal subunit. Probably acts by mediating the release of NMD3 from the 60S ribosomal subunit after export into the cytoplasm (Probable).',NULL,NULL,NULL,NULL,NULL),(10086,'UniProt Function',NULL,12063,NULL,'Possible role in modulating immune responses. Induces morphological changes including production of filopodia and microspikes when overexpressed in a variety of cell types and may be involved in dendritic cell maturation. Isoform 1 and isoform 2 have an inhibitory effect on lymphocyte proliferation.',NULL,NULL,NULL,NULL,NULL),(10087,'UniProt Function',NULL,12064,NULL,'The complex LTO1:YAE1 functions as a target specific adapter that probably recruits apo-ABCE1 to the cytosolic iron-sulfur protein assembly (CIA) complex machinery (PubMed:26182403). May be required for biogenesis of the large ribosomal subunit and initiation of translation (PubMed:23318452). May play a role in the regulation of proline metabolism and ROS production (PubMed:24930674).',NULL,NULL,NULL,NULL,NULL),(10088,'UniProt Function',NULL,12066,NULL,'E3 ubiquitin-protein ligase component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation (PubMed:23685075, PubMed:25132172, PubMed:25578875). Ubiquitination leads to VCP/p97 recruitment for extraction and degradation of the incomplete translation product (By similarity).',NULL,NULL,NULL,NULL,NULL),(10089,'UniProt Function',NULL,12067,NULL,'Acts in different tissues through interaction to nicotinic acetylcholine receptors (nAChRs) (PubMed:21252236). The proposed role as modulator of nAChR activity seems to be dependent on the nAChR subtype and stoichiometry, and to involve an effect on nAChR trafficking and its cell surface expression, and on single channel properties of the nAChR inserted in the plasma membrane. Modulates functional properties of nicotinic acetylcholine receptors (nAChRs) to prevent excessive excitation, and hence neurodegeneration. Enhances desensitization by increasing both the rate and extent of desensitization of alpha-4:beta-2-containing nAChRs and slowing recovery from desensitization. Promotes large amplitude ACh-evoked currents through alpha-4:beta-2 nAChRs. Is involved in regulation of the nAChR pentameric assembly in the endoplasmic reticulum. Shifts stoichiometry from high sensitivity alpha-4(2):beta-2(3) to low sensitivity alpha-4(3):beta-2(2) nAChR (By similarity). In vitro modulates alpha-3:beta-4-containing nAChRs. Reduces cell surface expression of (alpha-3:beta-4)(2):beta-4 and (alpha-3:beta-4)(2):alpha-5 nAChRs suggesting an interaction with nAChR alpha-3(-):(+)beta-4 subunit interfaces and an allosteric mode. Corresponding single channel effects characterized by decreased unitary conductance, altered burst proportions and enhanced desensitization/inactivation seem to depend on nAChR alpha:alpha subunit interfaces and are greater in (alpha-3:beta-2)(2):alpha-3 when compared to (alpha-3:beta-2)(2):alpha-5 nAChRs (PubMed:28100642). Prevents plasticity in the primary visual cortex late in life (By similarity).',NULL,NULL,NULL,NULL,NULL),(10090,'UniProt Function',NULL,12068,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10091,'UniProt Function',NULL,12069,NULL,'May cooperate with CD180 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) and cytokine production. Important for efficient CD180 cell surface expression (By similarity).',NULL,NULL,NULL,NULL,NULL),(10092,'UniProt Function',NULL,12070,NULL,'Binds bacterial lipopolysaccharide (LPS) (PubMed:17803912, PubMed:17569869). Cooperates with TLR4 in the innate immune response to bacterial lipopolysaccharide (LPS), and with TLR2 in the response to cell wall components from Gram-positive and Gram-negative bacteria (PubMed:11160242, PubMed:11593030). Enhances TLR4-dependent activation of NF-kappa-B (PubMed:10359581). Cells expressing both LY96 and TLR4, but not TLR4 alone, respond to LPS (PubMed:10359581).',NULL,NULL,NULL,NULL,NULL),(10093,'UniProt Function',NULL,12071,NULL,'May be involved in promoting the maturation of dendritic spines, probably via regulating SIPA1L1 levels at the postsynaptic density of synapses.',NULL,NULL,NULL,NULL,NULL),(10094,'UniProt Function',NULL,12074,NULL,'Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis.',NULL,NULL,NULL,NULL,NULL),(10095,'UniProt Function',NULL,12075,NULL,'ATP-dependent RNA helicase required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the primary piRNA metabolic process. Specifically binds to piRNA precursors and promotes the generation of intermediate piRNA processing fragments that are subsequently loaded to Piwi proteins. Acts via its ATP-dependent RNA helicase activity: displays 5\'-3\' RNA unwinding activity and probably mediates unwinding and funneling of single-stranded piRNA precursor transcripts to the endonuclease that catalyzes the first cleavage step of piRNA processing to generate piRNA intermediate fragments that are subsequently loaded to Piwi proteins.',NULL,NULL,NULL,NULL,NULL),(10096,'UniProt Function',NULL,12077,NULL,'Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2).',NULL,NULL,NULL,NULL,NULL),(10097,'UniProt Function',NULL,12078,NULL,'Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:11154691). However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1 and NFE2L2, and recruiting them to specific DNA-binding sites (PubMed:8932385, PubMed:9421508, PubMed:11154691). Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NFE2L2 transcription factor (PubMed:11154691). Transcription factor, component of erythroid-specific transcription factor NFE2L2 (PubMed:11154691). Activates globin gene expression when associated with NFE2L2 (PubMed:11154691). May be involved in signal transduction of extracellular H(+) (By similarity).',NULL,NULL,NULL,NULL,NULL),(10098,'UniProt Function',NULL,12079,NULL,'Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2).',NULL,NULL,NULL,NULL,NULL),(10099,'UniProt Function',NULL,12080,NULL,'Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5\'-[GT]G[GC]N[GT]NCTCAGNN-3\' in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters.',NULL,NULL,NULL,NULL,NULL),(10100,'UniProt Function',NULL,12081,NULL,'Isoform 2: F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules (PubMed:15265687, PubMed:20937854). Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854). Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane (By similarity). Has actin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics (By similarity). Interaction with CAMSAP3 at the minus ends of non-centrosomal microtubules tethers microtubules minus-ends to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). May play role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with GOLGA4 (PubMed:15265687). Plays a key role in wound healing and epidermal cell migration (By similarity). Required for efficient upward migration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate microtubule dynamics and polarize hair follicle stem cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(10101,'UniProt Function',NULL,12083,NULL,'Cell adhesion leukocyte receptor expressed by mucosal venules, helps to direct lymphocyte traffic into mucosal tissues including the Peyer patches and the intestinal lamina propria. It can bind both integrin alpha-4/beta-7 and L-selectin, regulating both the passage and retention of leukocytes. Isoform 2, lacking the mucin-like domain, may be specialized in supporting integrin alpha-4/beta-7-dependent adhesion strengthening, independent of L-selectin binding.',NULL,NULL,NULL,NULL,NULL),(10102,'UniProt Function',NULL,12084,NULL,'Non-neuronal microtubule-associated protein. Promotes microtubule assembly.',NULL,NULL,NULL,NULL,NULL),(10103,'UniProt Function',NULL,12085,NULL,'Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:28814570). Promotes elongation of CAMSAP2-decorated microtubule stretches on the minus-end of microtubules (PubMed:28814570). May play a role in cell migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(10104,'UniProt Function',NULL,12086,NULL,'Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.',NULL,NULL,NULL,NULL,NULL),(10105,'UniProt Function',NULL,12087,NULL,'Plays a role in the inhibition of RLR-mediated type I interferon signaling pathway by targeting DDX58/RIG-I for autophagic degradation. Interacts specifically with ISG15-associated DDX58 to promote interaction between DDX58 and the autophagic cargo receptor p62/SQSTM1 to mediate DDX58 degradation via selective autophagy (PubMed:29288164). Plays also a role in the inhibition of NF-kappa-B signaling pathway and inflammatory response by promoting the degradation of p65/RELA.',NULL,NULL,NULL,NULL,NULL),(10106,'UniProt Function',NULL,12088,NULL,'Promotes neurite outgrowth in hippocampal neurons. Enhances the cell surface expression of 2 NMDA receptor subunits GRIN1 and GRIN2A. May play a role in redistributing DLG4 to the cell periphery (By similarity).',NULL,NULL,NULL,NULL,NULL),(10107,'UniProt Function',NULL,12090,NULL,'Synaptic adhesion protein. Regulates the formation of excitatory synapses. The trans-synaptic adhesion between LRRC4B and PTPRF regulates the formation of excitatory synapses in a bidirectional manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(10108,'UniProt Function',NULL,12091,NULL,'Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(10109,'UniProt Function',NULL,12092,NULL,'Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731).',NULL,NULL,NULL,NULL,NULL),(10110,'UniProt Function',NULL,12094,NULL,'Involved in bone homeostasis. Acts as a negative regulator of RANKL-induced osteoclast precursor differentiation from bone marrow precursors (By similarity).',NULL,NULL,NULL,NULL,NULL),(10111,'UniProt Function',NULL,12095,NULL,'Cell surface receptor for Reelin (RELN) and apolipoprotein E (apoE)-containing ligands. LRP8 participates in transmitting the extracellular Reelin signal to intracellular signaling processes, by binding to DAB1 on its cytoplasmic tail. Reelin acts via both the VLDL receptor (VLDLR) and LRP8 to regulate DAB1 tyrosine phosphorylation and microtubule function in neurons. LRP8 has higher affinity for Reelin than VLDLR. LRP8 is thus a key component of the Reelin pathway which governs neuronal layering of the forebrain during embryonic brain development. Binds the endoplasmic reticulum resident receptor-associated protein (RAP). Binds dimers of beta 2-glycoprotein I and may be involved in the suppression of platelet aggregation in the vasculature. Highly expressed in the initial segment of the epididymis, where it affects the functional expression of clusterin and phospholipid hydroperoxide glutathione peroxidase (PHGPx), two proteins required for sperm maturation. May also function as an endocytic receptor. Not required for endocytic uptake of SEPP1 in the kidney which is mediated by LRP2 (By similarity). Together with its ligand, apolipoprotein E (apoE), may indirectly play a role in the suppression of the innate immune response by controlling the survival of myeloid-derived suppressor cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(10112,'UniProt Function',NULL,12096,NULL,'Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980).',NULL,NULL,NULL,NULL,NULL),(10113,'UniProt Function',NULL,12098,NULL,'Acts as a modulator of nicotinic acetylcholine receptors (nAChRs) function in the brain. Inhibits nicotine-induced Ca(2+) influx through nAChRs (PubMed:27344019). Acts as a positive regulator of Wnt/beta-catenin signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(10114,'UniProt Function',NULL,12100,NULL,'Activates the JUN N-terminal pathway.',NULL,NULL,NULL,NULL,NULL),(10115,'UniProt Function',NULL,12101,NULL,'Component of a protein kinase signal transduction cascade (PubMed:9808624). Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4 (PubMed:9808624). May phosphorylate the MAPK8/JNK1 kinase (PubMed:17761173). Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway (PubMed:9808624).',NULL,NULL,NULL,NULL,NULL),(10116,'UniProt Function',NULL,12102,NULL,'May be involved in signal transduction as a component of a multimeric receptor complex.',NULL,NULL,NULL,NULL,NULL),(10117,'UniProt Function',NULL,12103,NULL,'Not known, though may play a role tumor transformation or progression. In vitro promotes cell viability in melanoma cell lines.',NULL,NULL,NULL,NULL,NULL),(10118,'UniProt Function',NULL,12104,NULL,'May be involved in transcriptional regulation through interaction with SNW1 and recruiting histone deactelyase HDAC1. May inhibit notch intracellular domain (NICD) transactivation. May play a role in embryonal development and tumor transformation or aspects of tumor progression. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes.',NULL,NULL,NULL,NULL,NULL),(10119,'UniProt Function',NULL,12106,NULL,'Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression.',NULL,NULL,NULL,NULL,NULL),(10120,'UniProt Function',NULL,12107,NULL,'Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression.',NULL,NULL,NULL,NULL,NULL),(10121,'UniProt Function',NULL,12108,NULL,'May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex.',NULL,NULL,NULL,NULL,NULL),(10122,'UniProt Function',NULL,12109,NULL,'Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signal transduction of TRAF6, various cytokines including interleukin-1 (IL-1), transforming growth factor-beta (TGFB), TGFB-related factors like BMP2 and BMP4, toll-like receptors (TLR), tumor necrosis factor receptor CD40 and B-cell receptor (BCR). Ceramides are also able to activate MAP3K7/TAK1. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade and the p38 MAPK signal transduction cascade through the phosphorylation and activation of several MAP kinase kinases like MAP2K1/MEK1, MAP2K3/MKK3, MAP2K6/MKK6 and MAP2K7/MKK7. These MAP2Ks in turn activate p38 MAPKs, c-jun N-terminal kinases (JNKs) and I-kappa-B kinase complex (IKK). Both p38 MAPK and JNK pathways control the transcription factors activator protein-1 (AP-1), while nuclear factor-kappa B is activated by IKK. MAP3K7 activates also IKBKB and MAPK8/JNK1 in response to TRAF6 signaling and mediates BMP2-induced apoptosis. In osmotic stress signaling, plays a major role in the activation of MAPK8/JNK1, but not that of NF-kappa-B. Promotes TRIM5 capsid-specific restriction activity.',NULL,NULL,NULL,NULL,NULL),(10123,'UniProt Function',NULL,12110,NULL,'E3 ubiquitin-protein ligase that mediates polyubiquitination of CD4. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May play a role in ubuquitin-dependent protein sorting in developmenting spermatids.',NULL,NULL,NULL,NULL,NULL),(10124,'UniProt Function',NULL,12111,NULL,'Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B may play a role in the cytoskeletal changes that accompany neurite extension. Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing.',NULL,NULL,NULL,NULL,NULL),(10125,'UniProt Function',NULL,12112,NULL,'Receptor for angiotensin 1-7 (By similarity). Acts specifically as a functional antagonist of AGTR1 (angiotensin-2 type 1 receptor), although it up-regulates AGTR1 receptor levels. Positive regulation of AGTR1 levels occurs through activation of the G-proteins GNA11 and GNAQ, and stimulation of the protein kinase C signaling cascade. The antagonist effect on AGTR1 function is probably due to AGTR1 being physically altered by MAS1.',NULL,NULL,NULL,NULL,NULL),(10126,'UniProt Function',NULL,12113,NULL,'Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. LAGE3 functions as a dimerization module for the complex.',NULL,NULL,NULL,NULL,NULL),(10127,'UniProt Function',NULL,12114,NULL,'Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.',NULL,NULL,NULL,NULL,NULL),(10128,'UniProt Function',NULL,12115,NULL,'May have a potential role in hypercalcemia of malignancy.',NULL,NULL,NULL,NULL,NULL),(10129,'UniProt Function',NULL,12116,NULL,'Sodium-independent, high affinity transport of large neutral amino acids. Has narrower substrate selectivity compared to SLC7A5 and SLC7A8 and mainly transports branched-chain amino acids and phenylalanine. Plays a role in the development of human prostate cancer, from prostatic intraepithelial neoplasia to invasive prostate cancer.',NULL,NULL,NULL,NULL,NULL),(10130,'UniProt Function',NULL,12117,NULL,'Receptor for hyaluronate.',NULL,NULL,NULL,NULL,NULL),(10131,'UniProt Function',NULL,12118,NULL,'May play a role in dendritic cell function and in adaptive immunity.',NULL,NULL,NULL,NULL,NULL),(10132,'UniProt Function',NULL,12119,NULL,'May bind to RNA via its Arg/Ser-rich domain.',NULL,NULL,NULL,NULL,NULL),(10133,'UniProt Function',NULL,12120,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(10134,'UniProt Function',NULL,12122,NULL,'Non-receptor tyrosine-protein kinase that plays an essential role in the selection and maturation of developing T-cells in the thymus and in the function of mature T-cells. Plays a key role in T-cell antigen receptor (TCR)-linked signal transduction pathways. Constitutively associated with the cytoplasmic portions of the CD4 and CD8 surface receptors. Association of the TCR with a peptide antigen-bound MHC complex facilitates the interaction of CD4 and CD8 with MHC class II and class I molecules, respectively, thereby recruiting the associated LCK protein to the vicinity of the TCR/CD3 complex. LCK then phosphorylates tyrosine residues within the immunoreceptor tyrosine-based activation motifs (ITAM) of the cytoplasmic tails of the TCR-gamma chains and CD3 subunits, initiating the TCR/CD3 signaling pathway. Once stimulated, the TCR recruits the tyrosine kinase ZAP70, that becomes phosphorylated and activated by LCK. Following this, a large number of signaling molecules are recruited, ultimately leading to lymphokine production. LCK also contributes to signaling by other receptor molecules. Associates directly with the cytoplasmic tail of CD2, which leads to hyperphosphorylation and activation of LCK. Also plays a role in the IL2 receptor-linked signaling pathway that controls the T-cell proliferative response. Binding of IL2 to its receptor results in increased activity of LCK. Is expressed at all stages of thymocyte development and is required for the regulation of maturation events that are governed by both pre-TCR and mature alpha beta TCR. Phosphorylates other substrates including RUNX3, PTK2B/PYK2, the microtubule-associated protein MAPT, RHOH or TYROBP. Interacts with FYB2 (PubMed:27335501).',NULL,NULL,NULL,NULL,NULL),(10135,'UniProt Function',NULL,12123,NULL,'May play a role in lens epithelial cell differentiation.',NULL,NULL,NULL,NULL,NULL),(10136,'UniProt Function',NULL,12124,NULL,'Binds galactosides.',NULL,NULL,NULL,NULL,NULL),(10137,'UniProt Function',NULL,12125,NULL,'Involved in plasma membrane dynamics. Potentiated PDGF-mediated formation of membrane ruffles and lamellipodia in fibroblasts, acting via RAC1 activation (PubMed:14752106). May function in actin bundling (PubMed:14752106).',NULL,NULL,NULL,NULL,NULL),(10138,'UniProt Function',NULL,12126,NULL,'Predominant cell surface sialoprotein of leukocytes which regulates multiple T-cell functions, including T-cell activation, proliferation, differentiation, trafficking and migration. Positively regulates T-cell trafficking to lymph-nodes via its association with ERM proteins (EZR, RDX and MSN) (By similarity). Negatively regulates Th2 cell differentiation and predisposes the differentiation of T-cells towards a Th1 lineage commitment. Promotes the expression of IFN-gamma by T-cells during T-cell receptor (TCR) activation of naive cells and induces the expression of IFN-gamma by CD4(+) T-cells and to a lesser extent by CD8(+) T-cells (PubMed:18036228). Plays a role in preparing T-cells for cytokine sensing and differentiation into effector cells by inducing the expression of cytokine receptors IFNGR and IL4R, promoting IFNGR and IL4R signaling and by mediating the clustering of IFNGR with TCR (PubMed:24328034). Acts as a major E-selectin ligand responsible for Th17 cell rolling on activated vasculature and recruitment during inflammation. Mediates Th17 cells, but not Th1 cells, adhesion to E-selectin. Acts as a T-cell counter-receptor for SIGLEC1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(10139,'UniProt Function',NULL,12126,NULL,'CD43 cytoplasmic tail: Protects cells from apoptotic signals, promoting cell survival.',NULL,NULL,NULL,NULL,NULL),(10140,'UniProt Function',NULL,12127,NULL,'Antiapoptotic protein which protects cells uniquely from Fas-induced apoptosis. Regulates Fas-mediated apoptosis in neurons by interfering with caspase-8 activation. May play a role in cerebellar development by affecting cerebellar size, internal granular layer (IGL) thickness, and Purkinje cell (PC) development.',NULL,NULL,NULL,NULL,NULL),(10141,'UniProt Function',NULL,12128,NULL,'Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1 (PubMed:11346656). Essential mediator of somite segmentation and patterning (By similarity).',NULL,NULL,NULL,NULL,NULL),(10142,'UniProt Function',NULL,12129,NULL,'May participate in the regulation of neuronal exocytosis.',NULL,NULL,NULL,NULL,NULL),(10143,'UniProt Function',NULL,12130,NULL,'Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity). May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system.',NULL,NULL,NULL,NULL,NULL),(10144,'UniProt Function',NULL,12131,NULL,'Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. May increase the amplitude of ASIC3 acid-evoked currents by stabilizing the channel at the cell surface (By similarity).',NULL,NULL,NULL,NULL,NULL),(10145,'UniProt Function',NULL,12134,NULL,'Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation (PubMed:23166352). Plays a role in targeting endocytosed EGFR and ERGG3 for lysosomal degradation, and thereby helps downregulate downstream signaling cascades (PubMed:23166352). Helps recruit the ESCRT complex components TSG101, HGS and STAM to cytoplasmic membranes (PubMed:23166352). Probably plays a role in regulating protein degradation via its interaction with NEDD4 (PubMed:15776429). May also contribute to the regulation of gene expression in the nucleus (PubMed:10200294, PubMed:15793005). Binds DNA (in vitro) and may play a synergistic role with STAT6 in the nucleus in regulating the expression of various cytokines (PubMed:15793005). May regulate the expression of numerous cytokines, such as TNF, CCL2, CCL5, CXCL1, IL1A and IL10 (PubMed:10200294, PubMed:15793005).',NULL,NULL,NULL,NULL,NULL),(10146,'UniProt Function',NULL,12135,NULL,'Functions coreceptor to limit the innate immune responses to viral infections; signaling occurs via FCER1G (PubMed:16735691, PubMed:19564354). Down-regulates the production of IFNA1, IFNA2, IFNA4, IFNB1 and TNF by plasmacytoid dendritic cells that have been exposed to influenza virus or cytidine-phosphate-guanosine (CpG) dinucleotides, indicating it functions as negative regulator of TLR7 and TLR9 signaling cascades (PubMed:16735691, PubMed:19564354, PubMed:24586760). Down-regulates interferon production in response to interaction with BST2 on HIV-1 infected cells (PubMed:26172439). Activates a signaling cascade in complex with FCER1G that results in phosphorylation of Src family and Syk kinases and thereby triggers mobilization of intracellular Ca(2+) (PubMed:16735691, PubMed:19564354). Does not interfere with the differentiation of plasmacytoid dendritic cells into antigen-presenting cells (PubMed:24586760).',NULL,NULL,NULL,NULL,NULL),(10147,'UniProt Function',NULL,12136,NULL,'Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Required for the conversion of BK alpha channels from a high-voltage to a low-voltage activated channel type in non-excitable cells. These are characterized by negative membrane voltages and constant low levels of calcium.',NULL,NULL,NULL,NULL,NULL),(10148,'UniProt Function',NULL,12137,NULL,'Acts as a feedback negative regulator of signaling by receptor tyrosine kinases, through a mechanism that involves enhancement of receptor ubiquitination and accelerated intracellular degradation.',NULL,NULL,NULL,NULL,NULL),(10149,'UniProt Function',NULL,12138,NULL,'Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments.',NULL,NULL,NULL,NULL,NULL),(10150,'UniProt Function',NULL,12139,NULL,'May play a role in craniofacial and inner ear morphogenesis during embryonic development. May act within the otic vesicle epithelium to control formation of the lateral semicircular canal in the inner ear, possibly by restricting the expression of NTN1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(10151,'UniProt Function',NULL,12140,NULL,'Negatively regulates Toll-like receptor-mediated NF-kappa-B signaling by disrupting IKK core complex formation through interaction with IKBKB.',NULL,NULL,NULL,NULL,NULL),(10152,'UniProt Function',NULL,12141,NULL,'Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Alternatively, may be involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway. More generally, has been proposed to function as a cell surface endocytic receptor binding and internalizing extracellular ligands for degradation by lysosomes. May play an essential role in the process of digit differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10153,'UniProt Function',NULL,12142,NULL,'Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3\'-terminal U-tract of U6 snRNA (PubMed:10523320).',NULL,NULL,NULL,NULL,NULL),(10154,'UniProt Function',NULL,12143,NULL,'Required for G1/S transition. Recruits and stabilizes the origin recognition complex (ORC) onto chromatin during G1 to establish pre-replication complex (preRC) and to heterochromatic sites in post-replicated cells. Binds a combination of DNA and histone methylation repressive marks on heterochromatin. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 in a cooperative manner with DNA methylation. Required for silencing of major satellite repeats. May be important ORC2, ORC3 and ORC4 stability.',NULL,NULL,NULL,NULL,NULL),(10155,'UniProt Function',NULL,12144,NULL,'Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta.',NULL,NULL,NULL,NULL,NULL),(10156,'UniProt Function',NULL,12145,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10157,'UniProt Function',NULL,12146,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10158,'UniProt Function',NULL,12148,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10159,'UniProt Function',NULL,12149,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10160,'UniProt Function',NULL,12150,NULL,'May promote cell proliferation and inhibition of apoptosis of preadipocytes.',NULL,NULL,NULL,NULL,NULL),(10161,'UniProt Function',NULL,12151,NULL,'May act as a specification marker at earliest stage specification of lymphocytes between B- and T-cell development. Marks the earliest stage of B-cell specification.',NULL,NULL,NULL,NULL,NULL),(10162,'UniProt Function',NULL,12152,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10163,'UniProt Function',NULL,12153,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10164,'UniProt Function',NULL,12154,NULL,'Hydrolyzes fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins, GAP43, ZDHHC6 or HRAS (PubMed:21152083, PubMed:28826475). Deacylates GAP43 (PubMed:21152083). Mediates depalmitoylation of ZDHHC6 (PubMed:28826475). Has lysophospholipase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(10165,'UniProt Function',NULL,12155,NULL,'Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.',NULL,NULL,NULL,NULL,NULL),(10166,'UniProt Function',NULL,12156,NULL,'Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK signaling pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(10167,'UniProt Function',NULL,12157,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(10168,'UniProt Function',NULL,12158,NULL,'Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with TUSC3. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Has also oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition.',NULL,NULL,NULL,NULL,NULL),(10169,'UniProt Function',NULL,12158,NULL,'May be involved in Mg(2+) transport in epithelial cells.',NULL,NULL,NULL,NULL,NULL),(10170,'UniProt Function',NULL,12159,NULL,'Acts as a transcription activator for MET and as a key regulator of HGF-MET signaling. Promotes cell motility, proliferation and hepatocyte growth factor (HGF)-dependent scattering in vitro and tumor growth and metastasis in vivo.',NULL,NULL,NULL,NULL,NULL),(10171,'UniProt Function',NULL,12160,NULL,'Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3.',NULL,NULL,NULL,NULL,NULL),(10172,'UniProt Function',NULL,12161,NULL,'Enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin ligases. Proposed to act through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. MAGEF1-NSMCE1 ubiquitin ligase complex promotes proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Down-regulation of MMS19 impairs the activity of several DNA repair and metabolism enzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that require iron-sulfur clusters as cofactors. May negatively regulate genome integrity by inhibiting homologous recombination-mediated double-strand break DNA repair (PubMed:29225034).',NULL,NULL,NULL,NULL,NULL),(10173,'UniProt Function',NULL,12162,NULL,'May play a role as scaffolding protein at cell-cell junctions. May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity).',NULL,NULL,NULL,NULL,NULL),(10174,'UniProt Function',NULL,12163,NULL,'Seems to act as scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins. May play a role in regulating activin-mediated signaling in neuronal cells. Enhances the ability of PTEN to suppress AKT1 activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(10175,'UniProt Function',NULL,12164,NULL,'Involved in endocytosis.',NULL,NULL,NULL,NULL,NULL),(10176,'UniProt Function',NULL,12165,NULL,'Modulator of T-cell signaling. Can be either a costimulator of T-cell function, or a coinhibitor, depending on the receptor it binds to. Upon binding to CD226, stimulates T-cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Upon interaction with PVRIG, inhibits T-cell proliferation. These interactions are competitive (PubMed:26755705). Probable cell adhesion protein (PubMed:9657005).',NULL,NULL,NULL,NULL,NULL),(10177,'UniProt Function',NULL,12165,NULL,'(Microbial infection) Acts as a receptor for herpes simplex virus 1 (HHV-1) mutant Rid1, herpes simplex virus 1 (HHV-2) and pseudorabies virus (PRV).',NULL,NULL,NULL,NULL,NULL),(10178,'UniProt Function',NULL,12166,NULL,'May be involved in signal transduction as a component of a multimeric receptor complex.',NULL,NULL,NULL,NULL,NULL),(10179,'UniProt Function',NULL,12167,NULL,'Required for normal mitochondrial ribosome function and mitochondrial translation (PubMed:22238375, PubMed:23171548). May play a role in ribosome biogenesis by preventing premature association of the 28S and 39S ribosomal subunits (Probable). Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits (Probable). Addition to isolated mitochondrial ribosomal subunits partially inhibits translation, probably by interfering with the association of the 28S and 39S ribosomal subunits and the formation of functional ribosomes (Probable). May also participate in the assembly and/or regulation of the stability of the large subunit of the mitochondrial ribosome (PubMed:22238376, PubMed:23171548). May function as a ribosomal silencing factor (Probable).',NULL,NULL,NULL,NULL,NULL),(10180,'UniProt Function',NULL,12170,NULL,'Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. May play a role in the development of ovarian cancer. Seems to be coupled to the G(i)/G(o) and G(q) families of heteromeric G proteins.',NULL,NULL,NULL,NULL,NULL),(10181,'UniProt Function',NULL,12171,NULL,'Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity).',NULL,NULL,NULL,NULL,NULL),(10182,'UniProt Function',NULL,12173,NULL,'Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3\'-terminal U-tract of U6 snRNA (PubMed:10523320).',NULL,NULL,NULL,NULL,NULL),(10183,'UniProt Function',NULL,12174,NULL,'Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:15778503, PubMed:11719191, PubMed:15908424, PubMed:16252235). Activates the canonical Wnt signaling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration (PubMed:11336703, PubMed:11719191). In particular, may play an important role in the development of the posterior patterning of the epiblast during gastrulation (By similarity). During bone development, regulates osteoblast proliferation and differentiation thus determining bone mass (PubMed:11719191). Mechanistically, the formation of the signaling complex between Wnt ligand, frizzled receptor and LRP5 coreceptor promotes the recruitment of AXIN1 to LRP5, stabilizing beta-catenin/CTNNB1 and activating TCF/LEF-mediated transcriptional programs (PubMed:11336703, PubMed:25920554, PubMed:24706814, PubMed:14731402). Acts as a coreceptor for non-Wnt proteins, such as norrin/NDP. Binding of norrin/NDP to frizzled 4/FZD4-LRP5 receptor complex triggers beta-catenin/CTNNB1-dependent signaling known to be required for retinal vascular development (PubMed:27228167, PubMed:16252235). Plays a role in controlling postnatal vascular regression in retina via macrophage-induced endothelial cell apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(10184,'UniProt Function',NULL,12175,NULL,'E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos (PubMed:15256501). Bacterial recognition protein that defends the cytoplasm from invasive pathogens (PubMed:23245322). Localizes to several intracellular bacterial pathogens and generates the bacteria-associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy) (PubMed:23245322, PubMed:25484098).',NULL,NULL,NULL,NULL,NULL),(10185,'UniProt Function',NULL,12176,NULL,'Probable role in the clearance of triglyceride-rich lipoprotein from blood. Binds chylomicrons, LDL and VLDL in presence of free fatty acids and allows their subsequent uptake in the cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(10186,'UniProt Function',NULL,12177,NULL,'As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. LAMTOR1 is directly responsible for anchoring the Ragulator complex to membranes. Also required for late endosomes/lysosomes biogenesis it may regulate both the recycling of receptors through endosomes and the MAPK signaling pathway through recruitment of some of its components to late endosomes. May be involved in cholesterol homeostasis regulating LDL uptake and cholesterol release from late endosomes/lysosomes. May also play a role in RHOA activation.',NULL,NULL,NULL,NULL,NULL),(10187,'UniProt Function',NULL,12178,NULL,'Receptor with a tyrosine-protein kinase activity. The exact function of this protein is not known. Studies with chimeric proteins (replacing its extracellular region with that of several known growth factor receptors, such as EGFR and CSFIR) demonstrate its ability to promote growth and specifically neurite outgrowth, and cell survival. Signaling appears to involve the PI3 kinase pathway. Involved in regulation of the secretory pathway involving endoplasmic reticulum (ER) export sites (ERESs) and ER to Golgi transport.',NULL,NULL,NULL,NULL,NULL),(10188,'UniProt Function',NULL,12179,NULL,'Subunit of both mTORC1 and mTORC2, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at \'Thr-389\', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Within mTORC1, LST8 interacts directly with MTOR and enhances its kinase activity. In nutrient-poor conditions, stabilizes the MTOR-RPTOR interaction and favors RPTOR-mediated inhibition of MTOR activity. mTORC2 is also activated by growth factors, but seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 \'Ser-473\' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on \'Thr-308\' by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at \'Ser-422\'. mTORC2 also modulates the phosphorylation of PRKCA on \'Ser-657\'.',NULL,NULL,NULL,NULL,NULL),(10189,'UniProt Function',NULL,12182,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10190,'UniProt Function',NULL,12183,NULL,'Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Converts arachidonic acid to 15S-hydroperoxyeicosatetraenoic acid/(15S)-HPETE. Also acts on linoleic acid to produce 13-hydroxyoctadecadienoic acid/13-HPODE. Has no detectable 8S-lipoxygenase activity but reacts with (8S)-HPETE to produce (8S,15S)-diHPETE. May regulate progression through the cell cycle and cell proliferation. May also regulate cytokine secretion by macrophages and therefore play a role in the immune response. May also regulate macrophage differentiation into proatherogenic foam cells.',NULL,NULL,NULL,NULL,NULL),(10191,'UniProt Function',NULL,12184,NULL,'Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:26838787). Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aortic wall architecture (By similarity).',NULL,NULL,NULL,NULL,NULL),(10192,'UniProt Function',NULL,12185,NULL,'Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro increases receptor desensitization and decreases affinity for ACh of alpha-4:beta-2-containing nAChRs. May play a role in the intracellular trafficking of alpha-4:beta-2 and alpha-7-containing nAChRs and may inhibit their expression at the cell surface. May be involved in the control of anxiety.',NULL,NULL,NULL,NULL,NULL),(10193,'UniProt Function',NULL,12187,NULL,'Required for the assembly and stability of the mitochondrial ribosome (PubMed:24948607). Is a positive regulator of mitochondrial protein synthesis (PubMed:24948607).',NULL,NULL,NULL,NULL,NULL),(10194,'UniProt Function',NULL,12188,NULL,'Part of a non-canonical MAPK signaling pathway (PubMed:28111074). Activated by APOE, enhances the AP-1-mediated transcription of APP, via a MAP kinase signal transduction pathway composed of MAP2K7 and MAPK1/ERK2 and MAPK3/ERK1 (PubMed:28111074). May be an activator of the JNK/SAPK pathway.',NULL,NULL,NULL,NULL,NULL),(10195,'UniProt Function',NULL,12189,NULL,'Binds lactose. May participate in the apoptosis of adipocytes.',NULL,NULL,NULL,NULL,NULL),(10196,'UniProt Function',NULL,12190,NULL,'May be involved in early neuronal development.',NULL,NULL,NULL,NULL,NULL),(10197,'UniProt Function',NULL,12191,NULL,'Mitochondrial proton/calcium antiporter that mediates proton-dependent calcium efflux from mitochondrion (PubMed:19797662). Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain (PubMed:18628306). Required for the maintenance of the tubular shape and cristae organization (PubMed:18628306). In contrast to SLC8B1/NCLX, does not constitute the major factor for mitochondrial calcium extrusion (PubMed:24898248).',NULL,NULL,NULL,NULL,NULL),(10198,'UniProt Function',NULL,12192,NULL,'Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling.',NULL,NULL,NULL,NULL,NULL),(10199,'UniProt Function',NULL,12193,NULL,'The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack.',NULL,NULL,NULL,NULL,NULL),(10200,'UniProt Function',NULL,12193,NULL,'The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity.',NULL,NULL,NULL,NULL,NULL),(10201,'UniProt Function',NULL,12194,NULL,'Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migration of umbilical cord blood CD133+ cells and this is mediated through the CXCL12/CXCR4 axis. May play an important role in prostate cancer metastasis and the infiltration of bone marrow by cancer cells. Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes (By similarity).',NULL,NULL,NULL,NULL,NULL),(10202,'UniProt Function',NULL,12195,NULL,'Major glycoprotein component of a variety of mucus gels. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. May be involved in ligand binding and intracellular signaling.',NULL,NULL,NULL,NULL,NULL),(10203,'UniProt Function',NULL,12196,NULL,'Gel-forming mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva and cervical mucus.',NULL,NULL,NULL,NULL,NULL),(10204,'UniProt Function',NULL,12198,NULL,'Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, cell-cell adhesion, cell differentiation, proliferation and migration. Positively regulates microRNA (miRNA)-mediated gene silencing and is essential for P-body formation and integrity. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. Acts as a transcriptional corepressor for SNAI1- and SNAI2/SLUG-dependent repression of E-cadherin transcription. Negatively regulates the Hippo signaling pathway and antagonizes phosphorylation of YAP1. Inhibits E2F-mediated transcription, and suppresses the expression of the majority of genes with E2F1-responsive elements. Regulates osteoblast development, function, differentiation and stress osteoclastogenesis. Enhances the ability of TRAF6 to activate adapter protein complex 1 (AP-1) and negatively regulates the canonical Wnt receptor signaling pathway in osteoblasts. May act as a tumor suppressor by inhibiting cell proliferation.',NULL,NULL,NULL,NULL,NULL),(10205,'UniProt Function',NULL,12199,NULL,'Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells.',NULL,NULL,NULL,NULL,NULL),(10206,'UniProt Function',NULL,12200,NULL,'Acts as a tumor suppressor. Inhibits DNA synthesis. Its ability to inhibit oncogenic transformation is mediated through its association with RB1. Plays a role in the expression of genes required for the G1/S transition.',NULL,NULL,NULL,NULL,NULL),(10207,'UniProt Function',NULL,12201,NULL,'Displays serine/threonine-specific phosphorylation of myelin basic protein and histone (MBP) in vitro.',NULL,NULL,NULL,NULL,NULL),(10208,'UniProt Function',NULL,12202,NULL,'Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Involved in the down-regulation of the immune response and the development of tolerance, e.g. towards transplants. Interferes with TNFRSF5-signaling and NF-kappa-B up-regulation. Inhibits receptor-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions.',NULL,NULL,NULL,NULL,NULL),(10209,'UniProt Function',NULL,12203,NULL,'Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein onto the lipoyl domains of lipoate-dependent enzymes, which catalyze essential redox reactions (PubMed:28757203). Lipoyl-ACP can also act as a substrate although octanoyl-ACP is likely to be the physiological substrate (By similarity).',NULL,NULL,NULL,NULL,NULL),(10210,'UniProt Function',NULL,12204,NULL,'Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro acts on nAChRs in a subtype- and stoichiometry-dependent manner. Modulates specifically alpha-3(3):beta-4(2) nAChRs by enhancing the sensitivity to ACh, decreasing ACh-induced maximal current response and increasing the rate of desensitization to ACh; has no effect on alpha-7 homomeric nAChRs; modulates alpha-3(2):alpha-5:beta-4(2) nAChRs in the context of CHRNA5/alpha-5 variant Asn-398 but not its wild-type sequence.',NULL,NULL,NULL,NULL,NULL),(10211,'UniProt Function',NULL,12205,NULL,'Receptor for lysophosphatidic acid (LPA) (PubMed:9070858, PubMed:19306925, PubMed:25025571, PubMed:26091040). Plays a role in the reorganization of the actin cytoskeleton, cell migration, differentiation and proliferation, and thereby contributes to the responses to tissue damage and infectious agents. Activates downstream signaling cascades via the G(i)/G(o), G(12)/G(13), and G(q) families of heteromeric G proteins. Signaling inhibits adenylyl cyclase activity and decreases cellular cAMP levels (PubMed:26091040). Signaling triggers an increase of cytoplasmic Ca(2+) levels (PubMed:19656035, PubMed:19733258, PubMed:26091040). Activates RALA; this leads to the activation of phospholipase C (PLC) and the formation of inositol 1,4,5-trisphosphate (PubMed:19306925). Signaling mediates activation of down-stream MAP kinases (By similarity). Contributes to the regulation of cell shape. Promotes Rho-dependent reorganization of the actin cytoskeleton in neuronal cells and neurite retraction (PubMed:26091040). Promotes the activation of Rho and the formation of actin stress fibers (PubMed:26091040). Promotes formation of lamellipodia at the leading edge of migrating cells via activation of RAC1 (By similarity). Through its function as lysophosphatidic acid receptor, plays a role in chemotaxis and cell migration, including responses to injury and wounding (PubMed:18066075, PubMed:19656035, PubMed:19733258). Plays a role in triggering inflammation in response to bacterial lipopolysaccharide (LPS) via its interaction with CD14. Promotes cell proliferation in response to lysophosphatidic acid. Required for normal skeleton development. May play a role in osteoblast differentiation. Required for normal brain development. Required for normal proliferation, survival and maturation of newly formed neurons in the adult dentate gyrus. Plays a role in pain perception and in the initiation of neuropathic pain (By similarity).',NULL,NULL,NULL,NULL,NULL),(10212,'UniProt Function',NULL,12209,NULL,'Promotes neurite outgrowth in hippocampal neurons. Involved in the regulation and maintenance of excitatory synapses. Induces the clustering of excitatory postsynaptic proteins, including DLG4, DLGAP1, GRIA1 and GRIN1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(10213,'UniProt Function',NULL,12214,NULL,'Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells. Required for early embryonic development. Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission (PubMed:11907044, PubMed:12888553, PubMed:12713657). Acts as an alpha-2-macroglobulin receptor (PubMed:26142438).',NULL,NULL,NULL,NULL,NULL),(10214,'UniProt Function',NULL,12214,NULL,'(Microbial infection) Functions as a receptor for Pseudomonas aeruginosa exotoxin A.',NULL,NULL,NULL,NULL,NULL),(10215,'UniProt Function',NULL,12216,NULL,'Negative regulator of epidermal growth factor receptor (EGFR) signaling. Acts by promoting EGFR degradation in endosomes when not monoubiquitinated.',NULL,NULL,NULL,NULL,NULL),(10216,'UniProt Function',NULL,12217,NULL,'As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2.',NULL,NULL,NULL,NULL,NULL),(10217,'UniProt Function',NULL,12218,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10218,'UniProt Function',NULL,12220,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10219,'UniProt Function',NULL,12221,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10220,'UniProt Function',NULL,12222,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10221,'UniProt Function',NULL,12223,NULL,'Downregulates SLC1A2/EAAT2 promoter activity when expressed ectopically. Activates the nuclear factor kappa-B (NF-kappa-B) transcription factor. Promotes anchorage-independent growth of immortalized melanocytes and astrocytes which is a key component in tumor cell expansion. Promotes lung metastasis and also has an effect on bone and brain metastasis, possibly by enhancing the seeding of tumor cells to the target organ endothelium. Induces chemoresistance.',NULL,NULL,NULL,NULL,NULL),(10222,'UniProt Function',NULL,12224,NULL,'Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents.',NULL,NULL,NULL,NULL,NULL),(10223,'UniProt Function',NULL,12225,NULL,'Required for sperm migration into the oviduct and male fertility by controlling binding of sperm to zona pellucida (By similarity). May play a role in cell growth (PubMed:18089789).',NULL,NULL,NULL,NULL,NULL),(10224,'UniProt Function',NULL,12227,NULL,'Calcium-dependent lectin that mediates cell adhesion by binding to glycoproteins on neighboring cells (PubMed:12403782, PubMed:28489325, PubMed:28011641). Mediates the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. Promotes initial tethering and rolling of leukocytes in endothelia (PubMed:12403782, PubMed:28011641).',NULL,NULL,NULL,NULL,NULL),(10225,'UniProt Function',NULL,12228,NULL,'Secreted protein specifically required to prevent invasion of Gram-negative bacteria in the inner mucus layer of the colon epithelium, a portion of the large intestine which is free of commensal microbiota. Prevents invasion of flagellated microbiota by binding to the flagellum of bacteria, such as P.mirabilis, thereby inhibiting bacterial motility in the intestinal lumen. Segregation of intestinal bacteria and epithelial cells in the colon is required to preserve intestinal homeostasis.',NULL,NULL,NULL,NULL,NULL),(10226,'UniProt Function',NULL,12229,NULL,'Plays a role in the regulation of lipogenesis in liver. Up-regulates ACACA enzyme activity. Required for efficient lipid biosynthesis, including triacylglycerol, diacylglycerol and phospholipid. Involved in stabilization of microtubules (By similarity).',NULL,NULL,NULL,NULL,NULL),(10227,'UniProt Function',NULL,12231,NULL,'Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway.',NULL,NULL,NULL,NULL,NULL),(10228,'UniProt Function',NULL,12232,NULL,'Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues from glycoproteins. Involved in the degradation of free oligosaccharides in the cytoplasm.',NULL,NULL,NULL,NULL,NULL),(10229,'UniProt Function',NULL,12233,NULL,'Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2).',NULL,NULL,NULL,NULL,NULL),(10230,'UniProt Function',NULL,12234,NULL,'Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a participation in the secondary piRNAs metabolic process. Required for the localization of germ-cell factors to the meiotic nuage (By similarity).',NULL,NULL,NULL,NULL,NULL),(10231,'UniProt Function',NULL,12235,NULL,'Serine/threonine-protein kinase, which may play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. May play a role in hematopoietic lineage decisions and growth regulation. Able to autophosphorylate.',NULL,NULL,NULL,NULL,NULL),(10232,'UniProt Function',NULL,12236,NULL,'Promotes the assembly and stability of microtubules.',NULL,NULL,NULL,NULL,NULL),(10233,'UniProt Function',NULL,12237,NULL,'Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins.',NULL,NULL,NULL,NULL,NULL),(10234,'UniProt Function',NULL,12238,NULL,'Bifunctional enzyme showing minimal glutathione-conjugating activity with ethacrynic acid and 7-chloro-4-nitrobenz-2-oxa-1,3-diazole and maleylacetoacetate isomerase activity. Has also low glutathione peroxidase activity with T-butyl and cumene hydroperoxides. Is able to catalyze the glutathione dependent oxygenation of dichloroacetic acid to glyoxylic acid.',NULL,NULL,NULL,NULL,NULL),(10235,'UniProt Function',NULL,12239,NULL,'Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Plays a role in the circadian rhythm regulation. May act as RORA co-regulator, modulating the expression of core clock genes such as ARNTL/BMAL1 and NFIL3, induced, or NR1D1, repressed.',NULL,NULL,NULL,NULL,NULL),(10236,'UniProt Function',NULL,12241,NULL,'Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities.',NULL,NULL,NULL,NULL,NULL),(10237,'UniProt Function',NULL,12242,NULL,'ATP-dependent serine protease that mediates the selective degradation of misfolded and unassembled polypeptides in the peroxisomal matrix. Necessary for type 2 peroxisome targeting signal (PTS2)-containing protein processing and facilitates peroxisome matrix protein import (By similarity). May indirectly regulate peroxisomal fatty acid beta-oxidation through degradation of the self-processed forms of TYSND1.',NULL,NULL,NULL,NULL,NULL),(10238,'UniProt Function',NULL,12243,NULL,'Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.',NULL,NULL,NULL,NULL,NULL),(10239,'UniProt Function',NULL,12244,NULL,'Component of the proteinaceous fiber-like linker between two centrioles, required for centrosome cohesion.',NULL,NULL,NULL,NULL,NULL),(10240,'UniProt Function',NULL,12245,NULL,'Involved in multiple aspects of sperm assembly including acrosome attachment, shaping of the sperm head and in the early aspects of axoneme development. Not essential for primary cilium biogenesis.',NULL,NULL,NULL,NULL,NULL),(10241,'UniProt Function',NULL,12246,NULL,'Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(10242,'UniProt Function',NULL,12248,NULL,'Promotes dispersal of P-body components and is likely to play a role in the mRNA decapping process.',NULL,NULL,NULL,NULL,NULL),(10243,'UniProt Function',NULL,12249,NULL,'Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(10244,'UniProt Function',NULL,12251,NULL,'Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.',NULL,NULL,NULL,NULL,NULL),(10245,'UniProt Function',NULL,12252,NULL,'Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3\'-5\' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3\' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break sensing to resection. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex.',NULL,NULL,NULL,NULL,NULL),(10246,'UniProt Function',NULL,12254,NULL,'May play an integral structural role in elastic-fiber architectural organization and/or assembly.',NULL,NULL,NULL,NULL,NULL),(10247,'UniProt Function',NULL,12255,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10248,'UniProt Function',NULL,12256,NULL,'Supports cell migration. May be involved in urothelial cell-matrix interactions. May be involved in tumor progression.',NULL,NULL,NULL,NULL,NULL),(10249,'UniProt Function',NULL,12257,NULL,'May be involved sperm-egg plasma membrane adhesion and fusion during fertilization (PubMed:28182716). Exhibits bacteriolytic activity in vitro against Micrococcus luteus and Staphylococcus aureus (PubMed:28182716, PubMed:24013621). Shows weak bacteriolytic activity against Gram-positive bacteria at physiological pH (PubMed:28182716). Bacteriolytic activity is pH-dependent, with a maximum at around pH 5.6 (PubMed:28182716).',NULL,NULL,NULL,NULL,NULL),(10250,'UniProt Function',NULL,12258,NULL,'Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro.',NULL,NULL,NULL,NULL,NULL),(10251,'UniProt Function',NULL,12259,NULL,'Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway.',NULL,NULL,NULL,NULL,NULL),(10252,'UniProt Function',NULL,12260,NULL,'Acts as coactivator of MAFF transcriptional activity. Inhibits cell growth and colony-forming efficiency.',NULL,NULL,NULL,NULL,NULL),(10253,'UniProt Function',NULL,12261,NULL,'Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:9150357). However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1/NRF1, NFE2L2/NRF2 and NFE2L3/NRF3, and recruiting them to specific DNA-binding sites (PubMed:9150357, PubMed:8932385). Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor (PubMed:9150357).',NULL,NULL,NULL,NULL,NULL),(10254,'UniProt Function',NULL,12264,NULL,'Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context.',NULL,NULL,NULL,NULL,NULL),(10255,'UniProt Function',NULL,12265,NULL,'Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in embryonal development and tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes.',NULL,NULL,NULL,NULL,NULL),(10256,'UniProt Function',NULL,12266,NULL,'Not known, though may play a role tumor transformation or progression. In vitro promotes cell viability in melanoma cell lines.',NULL,NULL,NULL,NULL,NULL),(10257,'UniProt Function',NULL,12267,NULL,'Component of a protein kinase signal transduction cascade. Activates the JNK, but not ERK or p38 kinase pathways.',NULL,NULL,NULL,NULL,NULL),(10258,'UniProt Function',NULL,12268,NULL,'Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides.',NULL,NULL,NULL,NULL,NULL),(10259,'UniProt Function',NULL,12269,NULL,'Growth suppressor that facilitates the entry of the cell into cell cycle arrest. Functionally similar to the retinoblastoma protein it binds to and represses the activity of cell-cycle-promoting proteins such as SV40 large T antigen, adenovirus E1A, and the transcription factor E2F. Necdin also interacts with p53 and works in an additive manner to inhibit cell growth. Functions also as transcription factor and binds directly to specific guanosine-rich DNA sequences (By similarity).',NULL,NULL,NULL,NULL,NULL),(10260,'UniProt Function',NULL,12271,NULL,'Endopeptidase that degrades various components of the extracellular matrix, such as collagen type III and fibronectin. Activates progelatinase A. Involved in the matrix remodeling of blood vessels. Isoform short cleaves fibronectin and also collagen type III, but at lower rate. It has no effect on type I, II, IV and V collagen. However, upon interaction with CSPG4, it may be involved in degradation and invasion of type I collagen by melanoma cells.',NULL,NULL,NULL,NULL,NULL),(10261,'UniProt Function',NULL,12272,NULL,'Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP). May play a central role in tooth enamel formation. Cleaves aggrecan at the \'360-Asn-|-Phe-361\' site.',NULL,NULL,NULL,NULL,NULL),(10262,'UniProt Function',NULL,12273,NULL,'May play a role in EPS8 signaling. Binds glutathione.',NULL,NULL,NULL,NULL,NULL),(10263,'UniProt Function',NULL,12274,NULL,'Regulator of cell size that promotes cell size increase independently of mTOR and Hippo signaling pathways. Acts by stimulating the translation of specific mRNAs, including those encoding proteins affecting mitochondrial functions. Increases mitochondrial mass and respiration.',NULL,NULL,NULL,NULL,NULL),(10264,'UniProt Function',NULL,12275,NULL,'RNA-binding protein that promotes translation of specific classes of mRNAs downstream of the mTORC1 complex (PubMed:24532714, PubMed:25940091). Associates with the mRNA 5\'cap in an MTOR-dependent manner and associates with mRNAs containing a 5\' terminal oligopyrimidine (5\'TOP) motif, which is present in mRNAs encoding for ribosomal proteins and several components of the translation machinery (PubMed:24532714, PubMed:25940091, PubMed:26206669). Associates with actively translating ribosomes via interaction with PABPC1/PABP and stimulates translation of mRNAs containing a 5\'TOP, thereby regulating cell growth and proliferation (PubMed:20430826, PubMed:25940091). Positively regulates the replication of dengue virus (DENV) (PubMed:26735137).',NULL,NULL,NULL,NULL,NULL),(10265,'UniProt Function',NULL,12276,NULL,'Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity).',NULL,NULL,NULL,NULL,NULL),(10266,'UniProt Function',NULL,12277,NULL,'May function in the transport of nucleosides and/or nucleoside derivatives between the cytosol and the lumen of an intracellular membrane-bound compartment.',NULL,NULL,NULL,NULL,NULL),(10267,'UniProt Function',NULL,12279,NULL,'Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha-leucine ester residues.',NULL,NULL,NULL,NULL,NULL),(10268,'UniProt Function',NULL,12280,NULL,'May play a role in male fertility. May act as a retinoid carrier protein within the epididymis.',NULL,NULL,NULL,NULL,NULL),(10269,'UniProt Function',NULL,12283,NULL,'Participates in the Wnt signaling pathway. Activates transcription of target genes in the presence of CTNNB1 and EP300. May play a role in hair cell differentiation and follicle morphogenesis. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by LEF1 and CTNNB1. Regulates T-cell receptor alpha enhancer function. Binds DNA in a sequence-specific manner. PIAG antagonizes both Wnt-dependent and Wnt-independent activation by LEF1 (By similarity). Isoform 3 lacks the CTNNB1 interaction domain and may be an antagonist for Wnt signaling. Isoform 5 transcriptionally activates the fibronectin promoter, binds to and represses transcription from the E-cadherin promoter in a CTNNB1-independent manner, and is involved in reducing cellular aggregation and increasing cell migration of pancreatic cancer cells. Isoform 1 transcriptionally activates MYC and CCND1 expression and enhances proliferation of pancreatic tumor cells.',NULL,NULL,NULL,NULL,NULL),(10270,'UniProt Function',NULL,12284,NULL,'Galectin that binds lactose and a related range of sugars. May be involved in the assembly of adherens junctions.',NULL,NULL,NULL,NULL,NULL),(10271,'UniProt Function',NULL,12285,NULL,'Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and \'Ser-2\'- and \'Ser-5\'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 \'Lys-4\' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of \'Lys-120\' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3\' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Involved in polyadenylation of mRNA precursors. Connects PAF1C to Wnt signaling.',NULL,NULL,NULL,NULL,NULL),(10272,'UniProt Function',NULL,12286,NULL,'May be related to cancer progression or tumor metastasis in a variety of organ sites, most likely through an interaction with the actin cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(10273,'UniProt Function',NULL,12287,NULL,'Could function in transport of proteins into the mitochondrion.',NULL,NULL,NULL,NULL,NULL),(10274,'UniProt Function',NULL,12288,NULL,'May act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens. Does not seem to have enzymatic activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(10275,'UniProt Function',NULL,12289,NULL,'Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and is involved in the formation of various organs. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. Its function as activator of the Wnt signaling pathway is required for the development of various organs, including liver, kidney, intestine, bone, reproductive tract and eye. May also act as a receptor for norrin (NDP), such results however require additional confirmation in vivo. Required during spermatogenesis to activate the Wnt signaling pathway in peritubular myoid cells. Required for the maintenance of intestinal stem cells and Paneth cell differentiation in postnatal intestinal crypts. Acts as a regulator of bone formation and remodeling. Involved in kidney development; required for maintaining the ureteric bud in an undifferentiated state. Involved in the development of the anterior segment of the eye. Required during erythropoiesis. Also acts as a negative regulator of innate immunity by inhibiting TLR2/TLR4 associated pattern-recognition and proinflammatory cytokine production. Plays an important role in regulating the circadian rhythms of plasma lipids, partially through regulating the rhythmic expression of MTTP (By similarity).',NULL,NULL,NULL,NULL,NULL),(10276,'UniProt Function',NULL,12290,NULL,'Acts as a transcriptional activator. Stimulates the promoter of the alpha-glycoprotein gene. Transcriptional regulatory protein involved in the control of cell differentiation in developing lymphoid and neural cell types (By similarity).',NULL,NULL,NULL,NULL,NULL),(10277,'UniProt Function',NULL,12291,NULL,'Transcription factor involved in differentiation of certain neurons and mesenchymal cells.',NULL,NULL,NULL,NULL,NULL),(10278,'UniProt Function',NULL,12292,NULL,'LIF has the capacity to induce terminal differentiation in leukemic cells. Its activities include the induction of hematopoietic differentiation in normal and myeloid leukemia cells, the induction of neuronal cell differentiation, and the stimulation of acute-phase protein synthesis in hepatocytes.',NULL,NULL,NULL,NULL,NULL),(10279,'UniProt Function',NULL,12293,NULL,'Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors.',NULL,NULL,NULL,NULL,NULL),(10280,'UniProt Function',NULL,12293,NULL,'(Microbial infection) Isoform 3: May play a role in the assembly of hepatitis delta virus (HDV).',NULL,NULL,NULL,NULL,NULL),(10281,'UniProt Function',NULL,12294,NULL,'ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand-specific manner. May regulate mitochondrial DNA replication and/or gene expression using site-specific, single-stranded DNA binding to target the degradation of regulatory proteins binding to adjacent sites in mitochondrial promoters (PubMed:12198491, PubMed:15870080, PubMed:17420247, PubMed:8248235). Endogenous substrates include mitochondrial steroidogenic acute regulatory (StAR) protein, helicase Twinkle (TWNK) and the large ribosomal subunit protein bL32m. bL32m is protected from degradation by LONP1 when it is bound to a nucleic acid (RNA), but TWNK is not (PubMed:17579211, PubMed:28377575).',NULL,NULL,NULL,NULL,NULL),(10282,'UniProt Function',NULL,12295,NULL,'Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture.',NULL,NULL,NULL,NULL,NULL),(10283,'UniProt Function',NULL,12296,NULL,'May be involved in the regulation of spermatogenesis and sperm maturation.',NULL,NULL,NULL,NULL,NULL),(10284,'UniProt Function',NULL,12297,NULL,'May influence APP processing, resulting in a decrease in sAPP-alpha production and increased amyloidogenic P3 peptide production.',NULL,NULL,NULL,NULL,NULL),(10285,'UniProt Function',NULL,12298,NULL,'Required for melanocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(10286,'UniProt Function',NULL,12299,NULL,'Key regulator of transforming growth factor beta-1 (TGFB1) specifically required for microglia function in the nervous system (By similarity). Required for activation of latent TGF-beta-1 in macrophages and microglia: associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGFB1, and regulates integrin-dependent activation of TGF-beta-1 (By similarity). TGF-beta-1 activation mediated by LRRC33/NRROS is highly localized: there is little spreading of TGF-beta-1 activated from one microglial cell to neighboring microglia, suggesting the existence of localized and selective activation of TGF-beta-1 by LRRC33/NRROS (By similarity). Indirectly plays a role in Toll-like receptor (TLR) signaling: ability to inhibit TLR-mediated NF-kappa-B activation and cytokine production is probably a consequence of its role in TGF-beta-1 signaling (PubMed:23545260).',NULL,NULL,NULL,NULL,NULL),(10287,'UniProt Function',NULL,12300,NULL,'Transcriptional coactivator for androgen receptor (AR) and serum response factor (SRF). Contributes to the regulation of cell adhesion, spreading and cell migration and acts as a negative regulator in integrin-mediated cell adhesion events. Suppresses the integrin-induced tyrosine phosphorylation of paxillin (PXN). May play a critical role as an adapter protein in the formation of the adhesion zone in osteoclasts. Negatively regulates B-cell antigen receptor (BCR) signaling.',NULL,NULL,NULL,NULL,NULL),(10288,'UniProt Function',NULL,12301,NULL,'May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.',NULL,NULL,NULL,NULL,NULL),(10289,'UniProt Function',NULL,12302,NULL,'Potential cell surface proteins that bind and internalize ligands in the process of receptor-mediated endocytosis.',NULL,NULL,NULL,NULL,NULL),(10290,'UniProt Function',NULL,12303,NULL,'Transcriptional repressor which preferentially binds to the GC-rich consensus sequence (5\'-AGCCCCCGGCG-3\') and may regulate expression of TNF, EGFR and PDGFA. May control smooth muscle cells proliferation following artery injury through PDGFA repression. May also bind double-stranded RNA. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding.',NULL,NULL,NULL,NULL,NULL),(10291,'UniProt Function',NULL,12307,NULL,'May play a role in control of mRNA translation.',NULL,NULL,NULL,NULL,NULL),(10292,'UniProt Function',NULL,12309,NULL,'May play a role in mediating neutrophil activation and chemotaxis.',NULL,NULL,NULL,NULL,NULL),(10293,'UniProt Function',NULL,12310,NULL,'As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2.',NULL,NULL,NULL,NULL,NULL),(10294,'UniProt Function',NULL,12311,NULL,'Involved in tumorigenesis and may function as a negative regulator of the p53/TP53.',NULL,NULL,NULL,NULL,NULL),(10295,'UniProt Function',NULL,12312,NULL,'Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:2022183, PubMed:8617200, PubMed:8939931). Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (PubMed:8617200, PubMed:8939931, PubMed:15184403). Outcompeted by LRRC32/GARP for binding to LAP regulatory chain of TGF-beta (PubMed:22278742).',NULL,NULL,NULL,NULL,NULL),(10296,'UniProt Function',NULL,12313,NULL,'May bind to RNA via its Arg/Ser-rich domain.',NULL,NULL,NULL,NULL,NULL),(10297,'UniProt Function',NULL,12314,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10298,'UniProt Function',NULL,12315,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10299,'UniProt Function',NULL,12316,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10300,'UniProt Function',NULL,12317,NULL,'Export adapter involved in mRNA nuclear export in cancer cells. Binds and enhances the RNA-binding activity of the nuclear RNA export factor NXF1. Can restore mRNA export function in cells compromised by loss of mRNA export adapters (PubMed:25662211).',NULL,NULL,NULL,NULL,NULL),(10301,'UniProt Function',NULL,12318,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10302,'UniProt Function',NULL,12319,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10303,'UniProt Function',NULL,12320,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10304,'UniProt Function',NULL,12323,NULL,'Plays a role in the maintenance of the appropriate processing of 47S/45S pre-rRNA to 32S/30S pre-rRNAs and their subsequent processing to produce 18S and 28S rRNAs (PubMed:24495227). Also acts at the level of transcription regulation. Along with PRMT5, binds the gamma-globin (HBG1/HBG2) promoter and represses its expression (PubMed:25092918). In neuroblastoma cells, may also repress the expression of oxidative stress genes, including CHAC1, HMOX1, SLC7A11, ULBP1 and SNORD41 that encodes a small nucleolar RNA (PubMed:28686580). Preferentially binds to a DNA motif containing 5\'-GGTTAT-3\' (PubMed:25092918). Stimulates phagocytosis of photoreceptor outer segments by retinal pigment epithelial cells (By similarity). Prevents nucleolin/NCL self-cleavage, maintaining a normal steady-state level of NCL protein in undifferentiated embryonic stem cells (ESCs), which in turn is essential for ESC self-renewal (By similarity).',NULL,NULL,NULL,NULL,NULL),(10305,'UniProt Function',NULL,12325,NULL,'Serine protease that catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs). Other known substrates are BDNF, GNPTAB and ATF6. Cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4. Cleaves known substrates after Arg-Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu. Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes.',NULL,NULL,NULL,NULL,NULL),(10306,'UniProt Function',NULL,12327,NULL,'Mediates the octanoylation of ghrelin at \'Ser-3\'. Can use a variety of fatty acids as substrates including octanoic acid, decanoic acid and tetradecanoic acid.',NULL,NULL,NULL,NULL,NULL),(10307,'UniProt Function',NULL,12328,NULL,'Receptor for melanin-concentrating hormone, coupled to G proteins that activate phosphoinositide hydrolysis.',NULL,NULL,NULL,NULL,NULL),(10308,'UniProt Function',NULL,12329,NULL,'Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles and high-fidelity chromosome separation) by phosphorylating centrosomal proteins such as CROCC, CEP250 and NINL, resulting in their displacement from the centrosomes. Regulates kinetochore microtubule attachment stability in mitosis via phosphorylation of NDC80. Involved in regulation of mitotic checkpoint protein complex via phosphorylation of CDC20 and MAD2L1. Plays an active role in chromatin condensation during the first meiotic division through phosphorylation of HMGA2. Phosphorylates: PPP1CC; SGO1; NECAB3 and NPM1. Essential for localization of MAD2L1 to kinetochore and MAPK1 and NPM1 to the centrosome. Phosphorylates CEP68 and CNTLN directly or indirectly (PubMed:24554434). NEK2-mediated phosphorylation of CEP68 promotes CEP68 dissociation from the centrosome and its degradation at the onset of mitosis (PubMed:25704143). Involved in the regulation of centrosome disjunction (PubMed:26220856).',NULL,NULL,NULL,NULL,NULL),(10309,'UniProt Function',NULL,12329,NULL,'Isoform 1: Phosphorylates and activates NEK11 in G1/S-arrested cells.',NULL,NULL,NULL,NULL,NULL),(10310,'UniProt Function',NULL,12329,NULL,'Isoform 2: Not present in the nucleolus and, in contrast to isoform 1, does not phosphorylate and activate NEK11 in G1/S-arrested cells.',NULL,NULL,NULL,NULL,NULL),(10311,'UniProt Function',NULL,12330,NULL,'Protein kinase which influences neuronal morphogenesis and polarity through effects on microtubules. Regulates microtubule acetylation in neurons. Contributes to prolactin-mediated phosphorylation of PXN and VAV2. Implicated in prolactin-mediated cytoskeletal reorganization and motility of breast cancer cells through mechanisms involving RAC1 activation and phosphorylation of PXN and VAV2.',NULL,NULL,NULL,NULL,NULL),(10312,'UniProt Function',NULL,12331,NULL,'Protein kinase that seems to act exclusively upon threonine residues (By similarity). Required for normal entry into proliferative arrest after a limited number of cell divisions, also called replicative senescence. Required for normal cell cycle arrest in response to double-stranded DNA damage.',NULL,NULL,NULL,NULL,NULL),(10313,'UniProt Function',NULL,12332,NULL,'Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity.',NULL,NULL,NULL,NULL,NULL),(10314,'UniProt Function',NULL,12332,NULL,'(Microbial infection) A number of viral and bacterial pathogens seem to bind MCP in order to exploit its immune regulation property and directly induce an immunosuppressive phenotype in T-cells.',NULL,NULL,NULL,NULL,NULL),(10315,'UniProt Function',NULL,12332,NULL,'(Microbial infection) Acts as a receptor for Adenovirus subgroup B2 and Ad3.',NULL,NULL,NULL,NULL,NULL),(10316,'UniProt Function',NULL,12332,NULL,'(Microbial infection) Acts as a receptor for cultured Measles virus.',NULL,NULL,NULL,NULL,NULL),(10317,'UniProt Function',NULL,12332,NULL,'(Microbial infection) Acts as a receptor for Herpesvirus 6/HHV-6.',NULL,NULL,NULL,NULL,NULL),(10318,'UniProt Function',NULL,12332,NULL,'(Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes (PubMed:7708671, PubMed:9379894, PubMed:11260136, PubMed:11971006).',NULL,NULL,NULL,NULL,NULL),(10319,'UniProt Function',NULL,12333,NULL,'Protein kinase which plays an important role in mitotic cell cycle progression. Required for microtubule nucleation activity of the centrosome, robust mitotic spindle formation and cytokinesis. Phosphorylates RPS6KB1.',NULL,NULL,NULL,NULL,NULL),(10320,'UniProt Function',NULL,12334,NULL,'Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for \'once per cell cycle\' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for S-phase checkpoint activation upon UV-induced damage.',NULL,NULL,NULL,NULL,NULL),(10321,'UniProt Function',NULL,12335,NULL,'Calcium sensor which is essential for the stabilization of normal baseline neurotransmitter release and for the induction and long-term maintenance of presynaptic homeostatic plasticity.',NULL,NULL,NULL,NULL,NULL),(10322,'UniProt Function',NULL,12336,NULL,'Anti-oncogene that plays a role in cell cycle regulation; decreases cell doubling time and anchorage-dependent growth; shortens the duration of G1 transit time and G1/S transition. When constitutively expressed, increases CDK4 and CDK6 kinases activity and CCND1/cyclin D1 protein level, as well as G1 cyclin/CDK complex formation. Involved in translation initiation; promotes recruitment of aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits. Plays a role as translation enhancer; recruits the density-regulated protein/DENR and binds to the cap complex of the 5\'-terminus of mRNAs, subsequently altering the mRNA translation profile; up-regulates protein levels of BCL2L2, TFDP1, MRE11, CCND1 and E2F1, while mRNA levels remains constant. Hyperactivates DNA damage signaling pathway; increased gamma-irradiation-induced phosphorylation of histone H2AX, and induces damage foci formation. Increases the overall number of chromosomal abnormalities such as larger chromosomes formation and multiples chromosomal fusions when overexpressed in gamma-irradiated cells. May play a role in promoting lymphoid tumor development: lymphoid cell lines overexpressing MCTS1 exhibit increased growth rates and display increased protection against apoptosis. May contribute to the pathogenesis and progression of breast cancer via promotion of angiogenesis through the decline of inhibitory THBS1/thrombospondin-1, and inhibition of apoptosis. Involved in the process of proteasome degradation to down-regulate Tumor suppressor p53/TP53 in breast cancer cell; Positively regulates phosphorylation of MAPK1 and MAPK3. Involved in translation initiation; promotes aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits.',NULL,NULL,NULL,NULL,NULL),(10323,'UniProt Function',NULL,12338,NULL,'Membrane receptor involved in phagocytosis by macrophages and astrocytes of apoptotic cells. Receptor for C1q, an eat-me signal, that binds phosphatidylserine expressed on the surface of apoptotic cells (PubMed:27170117). Cooperates with ABCA1 within the process of engulfment. Promotes the formation of large intracellular vacuoles and may be responsible for the uptake of amyloid-beta peptides (PubMed:20828568, PubMed:17643423). Necessary for astrocyte-dependent apoptotic neuron clearance in the developing cerebellum (PubMed:27170117). Plays role in muscle cell proliferation, adhesion and motility. Is also an essential factor in the regulation of myogenesis. Controls the balance between skeletal muscle satellite cells proliferation and differentiation through regulation of the notch signaling pathway (PubMed:28498977). May also function in the mosaic spacing of specific neuron subtypes in the retina through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements (PubMed:17498693, PubMed:17643423, PubMed:20828568, PubMed:22101682, PubMed:27170117, PubMed:28498977).',NULL,NULL,NULL,NULL,NULL),(10324,'UniProt Function',NULL,12339,NULL,'Downstream effector of Notch signaling. Involved in the regulation of liver cancer cells self-renewal (PubMed:25985737). Involved in angiogenesis acting downstream of Notch at branch points to regulate vascular density. Proposed to integrate endothelial Notch and Wnt signaling to control stalk cell proliferation and to stablilize new endothelial connections during angiogenesis (PubMed:19154719). During somitogenesis involved in maintenance of proper somite segmentation and proper numbers of somites and vertebrae. Required for proper anterior-posterior somite patterning. Proposed to function in a negative feedback loop to destabilize Notch 1 intracellular domain (NICD) and downregulate the Notch signal, preventing expansion of the Notch signal into the anterior somite domain (By similarity).',NULL,NULL,NULL,NULL,NULL),(10325,'UniProt Function',NULL,12340,NULL,'May modulate transcriptional activation by target nuclear receptors. Can act as transcriptional activator (in vitro).',NULL,NULL,NULL,NULL,NULL),(10326,'UniProt Function',NULL,12340,NULL,'Involved in starvation-induced autophagy probably by its association with PI3K complex I (PI3KC3-C1). However, effects has been described variably. Involved in the induction of starvation-induced autophagy (PubMed:24785657). Stabilzes PI3KC3-C1 assembly and enhances ATG14-linked lipid kinase activity of PIK3C3 (By similarity). Proposed to negatively regulate basal and starvation-induced autophagy and to inhibit PIK3C3 activity by modulating interactions in PI3KC3-C1 (PubMed:25086043). May be involved in autophagosome biogenesis (PubMed:25086043). May play a role in neural progenitor cell survival during differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10327,'UniProt Function',NULL,12341,NULL,'May serve as an alternate pathway for starch digestion when luminal alpha-amylase activity is reduced because of immaturity or malnutrition. May play a unique role in the digestion of malted dietary oligosaccharides used in food manufacturing.',NULL,NULL,NULL,NULL,NULL),(10328,'UniProt Function',NULL,12342,NULL,'May play a role in male spermatogenesis. In vitro acts as inhibitor of MGAT1 activity causing cell surface proteins to carry mainly high mannose N-glycans. The function is mediated by its lumenal domain and occurs specifically in the Golgi. A catalytic glucosyltransferase activity is not detected. May be involved in regulation of Sertoli-germ cell interactions during specific stages of spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(10329,'UniProt Function',NULL,12343,NULL,'Functions in replication-dependent translation of histone mRNAs which differ from other eukaryotic mRNAs in that they do not end with a poly-A tail but a stem-loop. May participate in circularizing those mRNAs specifically enhancing their translation.',NULL,NULL,NULL,NULL,NULL),(10330,'UniProt Function',NULL,12344,NULL,'Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. Isoform 1 plays a role in the secretion of lipoproteins, pre-chylomicrons and pre-VLDLs, by participating in their export from the endoplasmic reticulum (PubMed:27138255). Thereby, may play a role in cholesterol and triglyceride homeostasis (By similarity).',NULL,NULL,NULL,NULL,NULL),(10331,'UniProt Function',NULL,12345,NULL,'Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (By similarity). In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2) (PubMed:21864500, PubMed:26845023). Acts as a cytoskeletal regulator that connects NEDD9 to intermediate filaments. Also acts as a negative regulator of apoptosis via its interaction with STK38 and STK38L; acts by antagonizing STK38 and STK38L activation by MST1/STK4. Involved in regulation of lamina-specific connectivity in the nervous system such as the development of lamina-restricted hippocampal connections. Through redox regulation of the actin cytoskeleton controls the intracellular distribution of secretory vesicles containing L1/neurofascin/NgCAM family proteins in neurons, thereby regulating their cell surface levels (By similarity). May act as Rab effector protein and play a role in vesicle trafficking.',NULL,NULL,NULL,NULL,NULL),(10332,'UniProt Function',NULL,12346,NULL,'Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy mitochondria in response to mitochondrial damage. Mediator of mitochondrial protein catabolic process (also named MALM) by mediating the degradation of damaged proteins inside mitochondria by promoting the accumulation in the mitochondrial matrix of hydrolases that are characteristic of the lysosomal lumen. Also involved in mitochondrion degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which engulf and degrade unhealthy mitochondria by accumulating lysosomes. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix.',NULL,NULL,NULL,NULL,NULL),(10333,'UniProt Function',NULL,12347,NULL,'Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD.',NULL,NULL,NULL,NULL,NULL),(10334,'UniProt Function',NULL,12348,NULL,'Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Specifically binds to cardiolipin (in vitro) but not to the precursor lipid phosphatidylglycerol. Plays a crucial role in crista junction formation and mitochondrial function (PubMed:23704930), (PubMed:25764979).',NULL,NULL,NULL,NULL,NULL),(10335,'UniProt Function',NULL,12349,NULL,'Inhibits the activity of ATP2A1/SERCA1 ATPase in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+), thereby acting as a key regulator of skeletal muscle activity. Its high expression in adult skeletal muscle, suggests that it constitutes the predominant regulator of ATP2A1/SERCA1 in adult skeletal muscle.',NULL,NULL,NULL,NULL,NULL),(10336,'UniProt Function',NULL,12350,NULL,'Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes) (PubMed:20713600, PubMed:24290141). Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:20713600).',NULL,NULL,NULL,NULL,NULL),(10337,'UniProt Function',NULL,12351,NULL,'Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling.',NULL,NULL,NULL,NULL,NULL),(10338,'UniProt Function',NULL,12352,NULL,'Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a marker of multipotent stem cells in the epidermis. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(10339,'UniProt Function',NULL,12353,NULL,'Acts as a transcriptional activator. Binds to and activates the promoter of the alpha-glycoprotein gene, and synergistically enhances transcription from the prolactin promoter in cooperation with POU1F1/Pit-1 (By similarity). Required for the establishment of the specialized cells of the pituitary gland and the nervous system. Involved in the development of interneurons and motor neurons in cooperation with LDB1 and ISL1.',NULL,NULL,NULL,NULL,NULL),(10340,'UniProt Function',NULL,12354,NULL,'Actin stress fibers-associated protein that activates non-muscle myosin IIa. Activates the non-muscle myosin IIa complex by promoting the phosphorylation of its regulatory subunit MRLC/MYL9. Through the activation of non-muscle myosin IIa, positively regulates actin stress fibers assembly and stabilizes focal adhesions. It therefore negatively regulates cell spreading and cell migration.',NULL,NULL,NULL,NULL,NULL),(10341,'UniProt Function',NULL,12355,NULL,'Probable transcription factor required for the expression of a subset of genes involved in interneurons migration and development. Functions in the specification of cortical interneuron subtypes and in the migration of GABAergic interneuron precursors from the subpallium to the cerebral cortex (By similarity).',NULL,NULL,NULL,NULL,NULL),(10342,'UniProt Function',NULL,12356,NULL,'Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis.',NULL,NULL,NULL,NULL,NULL),(10343,'UniProt Function',NULL,12357,NULL,'Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione. Involved in the regulation of TNF-induced transcriptional activity of NF-kappa-B. Required for normal osteoclastogenesis.',NULL,NULL,NULL,NULL,NULL),(10344,'UniProt Function',NULL,12358,NULL,'Alters PTPRF cellular localization and induces PTPRF clustering. May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates.',NULL,NULL,NULL,NULL,NULL),(10345,'UniProt Function',NULL,12359,NULL,'Has phospholipase and triglyceride lipase activities. Hydrolyzes high density lipoproteins (HDL) more efficiently than other lipoproteins. Binds heparin.',NULL,NULL,NULL,NULL,NULL),(10346,'UniProt Function',NULL,12360,NULL,'Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG).',NULL,NULL,NULL,NULL,NULL),(10347,'UniProt Function',NULL,12361,NULL,'In hippocampal neurons, regulates dendritic and spine growth and synaptic transmission.',NULL,NULL,NULL,NULL,NULL),(10348,'UniProt Function',NULL,12362,NULL,'May act as receptor for class I MHC antigens.',NULL,NULL,NULL,NULL,NULL),(10349,'UniProt Function',NULL,12363,NULL,'Endoplasmic reticulum (ER)-shaping membrane protein that plays a role in determining ER morphology. Involved in the stabilization of nascent three-way ER tubular junctions within the ER network (PubMed:24223779, PubMed:25404289, PubMed:25548161, PubMed:27619977). May also play a role as a curvature-stabilizing protein within the three-way ER tubular junction network (PubMed:25404289). May be involved in limb and central nervous system development (By similarity).',NULL,NULL,NULL,NULL,NULL),(10350,'UniProt Function',NULL,12364,NULL,'Protein kinase which phosphorylates ESR1 (in vitro) and protects it against proteasomal degradation. May also regulate ESR1 levels indirectly via a PKC-AKT-FOXO3 pathway where it decreases the activity of PKC and the phosphorylation of AKT, thereby increasing binding of transcriptional activator FOXO3 to the ESR1 promoter and increasing ESR1 transcription (PubMed:21602804). Involved in endocytic trafficking of N-methyl-D-aspartate receptors (NMDAR) in neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(10351,'UniProt Function',NULL,12365,NULL,'Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.',NULL,NULL,NULL,NULL,NULL),(10352,'UniProt Function',NULL,12366,NULL,'Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin.',NULL,NULL,NULL,NULL,NULL),(10353,'UniProt Function',NULL,12367,NULL,'Mediates nucleation of actin filaments and thereby promotes actin polymerization (PubMed:18403713, PubMed:26370058, PubMed:25250574, PubMed:26417072). Plays a role in the regulation of actin filament length (By similarity). Required for normal sarcomere organization in the heart, and for normal heart function (PubMed:18403713).',NULL,NULL,NULL,NULL,NULL),(10354,'UniProt Function',NULL,12368,NULL,'Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574).',NULL,NULL,NULL,NULL,NULL),(10355,'UniProt Function',NULL,12370,NULL,'Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Converts arachidonic acid into 12-hydroperoxyeicosatetraenoic acid/12-HPETE and 15-hydroperoxyeicosatetraenoic acid/15-HPETE. Also converts linoleic acid to 13-hydroperoxyoctadecadienoic acid. May also act on (12S)-hydroperoxyeicosatetraenoic acid/(12S)-HPETE to produce hepoxilin A3. Probably plays an important role in the immune and inflammatory responses. Through the oxygenation of membrane-bound phosphatidylethanolamine in macrophages may favor clearance of apoptotic cells during inflammation by resident macrophages and prevent an autoimmune response associated with the clearance of apoptotic cells by inflammatory monocytes. In parallel, may regulate actin polymerization which is crucial for several biological processes, including macrophage function. May also regulate macrophage function through regulation of the peroxisome proliferator activated receptor signaling pathway. Finally, it is also involved in the cellular response to IL13/interleukin-13. In addition to its role in the immune and inflammatory responses, may play a role in epithelial wound healing in the cornea maybe through production of lipoxin A4. May also play a role in endoplasmic reticulum stress response and the regulation of bone mass.',NULL,NULL,NULL,NULL,NULL),(10356,'UniProt Function',NULL,12371,NULL,'Plays important roles in controlling the metabolism of fatty acids at different levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A to modulate lipid metabolism (By similarity).',NULL,NULL,NULL,NULL,NULL),(10357,'UniProt Function',NULL,12372,NULL,'Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Seems to be coupled to the G(i)/G(o), G(12)/G(13), and G(q) families of heteromeric G proteins. Plays a key role in phospholipase C-beta (PLC-beta) signaling pathway. Stimulates phospholipase C (PLC) activity in a manner that is independent of RALA activation.',NULL,NULL,NULL,NULL,NULL),(10358,'UniProt Function',NULL,12376,NULL,'Plays a role in the delivery of peptides to major histocompatibility complex (MHC) class I molecules; this occurs in a transporter associated with antigen processing (TAP)-independent manner. May play a role in taste signal transduction via ITPR3. May play a role during fertilization in pronucleus congression and fusion.',NULL,NULL,NULL,NULL,NULL),(10359,'UniProt Function',NULL,12377,NULL,'Promotes neurite outgrowth in hippocampal neurons. May play a role in redistributing DLG4 to the cell periphery (By similarity).',NULL,NULL,NULL,NULL,NULL),(10360,'UniProt Function',NULL,12382,NULL,'May promote neurite outgrowth of developing thalamic neurons.',NULL,NULL,NULL,NULL,NULL),(10361,'UniProt Function',NULL,12385,NULL,'Plays a role in the degradation of histone mRNAs, the only eukaryotic mRNAs that are not polyadenylated (PubMed:18172165). Probably also part of an LSm subunits-containing complex involved in the general process of mRNA degradation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10362,'UniProt Function',NULL,12386,NULL,'Receptor for lutropin-choriogonadotropic hormone (PubMed:11847099). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099).',NULL,NULL,NULL,NULL,NULL),(10363,'UniProt Function',NULL,12387,NULL,'Component of the U7 snRNP complex that is involved in the histone 3\'-end pre-mRNA processing (By similarity). Increases U7 snRNA levels but not histone 3\'-end pre-mRNA processing activity, when overexpressed. Required for cell cycle progression from G1 to S phases. Binds specifically to the Sm-binding site of U7 snRNA.',NULL,NULL,NULL,NULL,NULL),(10364,'UniProt Function',NULL,12388,NULL,'Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.',NULL,NULL,NULL,NULL,NULL),(10365,'UniProt Function',NULL,12389,NULL,'Exhibits lysophospholipase, transacylase, PAF acetylhydrolase and asparaginase activities.',NULL,NULL,NULL,NULL,NULL),(10366,'UniProt Function',NULL,12390,NULL,'May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(10367,'UniProt Function',NULL,12394,NULL,'Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin (PubMed:23542155). Also able to repress the ligand-induced transcriptional activity of retinoic acid receptor alpha (RARA), possibly through direct recruitment of histone deacetylases (PubMed:17455211).',NULL,NULL,NULL,NULL,NULL),(10368,'UniProt Function',NULL,12397,NULL,'Probable receptor, which is involved in the internalization of lipophilic molecules and/or signal transduction. May be involved in the uptake of lipoprotein APOE in liver (By similarity).',NULL,NULL,NULL,NULL,NULL),(10369,'UniProt Function',NULL,12398,NULL,'Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel\'s voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium.',NULL,NULL,NULL,NULL,NULL),(10370,'UniProt Function',NULL,12399,NULL,'Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Plays a redundant role in the efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition.',NULL,NULL,NULL,NULL,NULL),(10371,'UniProt Function',NULL,12401,NULL,'Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids.',NULL,NULL,NULL,NULL,NULL),(10372,'UniProt Function',NULL,12402,NULL,'Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3\'-terminal U-tract of U6 snRNA (PubMed:10523320).',NULL,NULL,NULL,NULL,NULL),(10373,'UniProt Function',NULL,12403,NULL,'Appears to function in the U7 snRNP complex that is involved in histone 3\'-end processing. Increases U7 snRNA levels but not histone 3\'-end pre-mRNA processing activity, when overexpressed. Required for cell cycle progression from G1 to S phases. Binds specifically to U7 snRNA. Binds to the downstream cleavage product (DCP) of histone pre-mRNA in a U7 snRNP dependent manner.',NULL,NULL,NULL,NULL,NULL),(10374,'UniProt Function',NULL,12404,NULL,'Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues.',NULL,NULL,NULL,NULL,NULL),(10375,'UniProt Function',NULL,12405,NULL,'NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c, feericyanide and methemoglobin.',NULL,NULL,NULL,NULL,NULL),(10376,'UniProt Function',NULL,12406,NULL,'Receptor for extracellular ATP > UTP and ADP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. May be the cardiac P2Y receptor involved in the regulation of cardiac muscle contraction through modulation of L-type calcium currents. Is a receptor for leukotriene B4, a potent chemoattractant involved in inflammation and immune response.',NULL,NULL,NULL,NULL,NULL),(10377,'UniProt Function',NULL,12407,NULL,'Acts as an activator of the canonical NF-kappa-B pathway and drive the production of proinflammatory cytokines. Promotes the antigen (Ag)-presenting and priming function of dendritic cells via the canonical NF-kappa-B pathway (PubMed:21048106). In concert with MYO18A and CDC42BPA/CDC42BPB, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. Activates CDC42BPA/CDC42BPB and targets it to actomyosin through its interaction with MYO18A, leading to MYL9/MLC2 phosphorylation and MYH9/MYH10-dependent actomyosin assembly in the lamella (By similarity).',NULL,NULL,NULL,NULL,NULL),(10378,'UniProt Function',NULL,12408,NULL,'Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta.',NULL,NULL,NULL,NULL,NULL),(10379,'UniProt Function',NULL,12409,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10380,'UniProt Function',NULL,12410,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10381,'UniProt Function',NULL,12411,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10382,'UniProt Function',NULL,12412,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10383,'UniProt Function',NULL,12413,NULL,'Cell-surface glycoprotein having a role in immunoadhesion. Mediates in the adhesion of blood neutrophils in cytokine-activated endothelium through interaction with SELPLG/PSGL1. May have a role in capillary morphogenesis.',NULL,NULL,NULL,NULL,NULL),(10384,'UniProt Function',NULL,12417,NULL,'Acts as an endocytic receptor to direct captured antigens from the extracellular space to a specialized antigen-processing compartment (By similarity). Causes reduced proliferation of B-lymphocytes.',NULL,NULL,NULL,NULL,NULL),(10385,'UniProt Function',NULL,12418,NULL,'Ligand-specific transporter trafficking between intracellular organelles (TGN) and the plasma membrane. Plays a role in autocrine regulation of cell growth mediated by growth regulators containing cell surface retention sequence binding (CRS). May act as a hyaluronan (HA) transporter, either mediating its uptake for catabolism within lymphatic endothelial cells themselves, or its transport into the lumen of afferent lymphatic vessels for subsequent re-uptake and degradation in lymph nodes.',NULL,NULL,NULL,NULL,NULL),(10386,'UniProt Function',NULL,12420,NULL,'Has depalmitoylating activity toward KCNMA1. Does not exhibit phospholipase nor triacylglycerol lipase activity, able to hydrolyze only short chain substrates due to its shallow active site.',NULL,NULL,NULL,NULL,NULL),(10387,'UniProt Function',NULL,12421,NULL,'Required for meiosis I progression during spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(10388,'UniProt Function',NULL,12422,NULL,'Involved in T-cell development. Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-3:beta-4-containing nAChRs maximum response.',NULL,NULL,NULL,NULL,NULL),(10389,'UniProt Function',NULL,12423,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10390,'UniProt Function',NULL,12424,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10391,'UniProt Function',NULL,12426,NULL,'May act as a potent antibacterial protein that may play a role in the innate immunity.',NULL,NULL,NULL,NULL,NULL),(10392,'UniProt Function',NULL,12427,NULL,'Hydrolyzes fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins or HRAS. Has depalmitoylating activity toward KCNMA1. Has low lysophospholipase activity.',NULL,NULL,NULL,NULL,NULL),(10393,'UniProt Function',NULL,12428,NULL,'Involved in the maturation of Asn-linked oligosaccharides. Trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce first Man(8)GlcNAc(2) then Man(6)GlcNAc and a small amount of Man(5)GlcNAc.',NULL,NULL,NULL,NULL,NULL),(10394,'UniProt Function',NULL,12429,NULL,'Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator of retrograde transport via its interaction with VPS35. Recruited to retromer-containing endosomes and promotes the formation of \'Lys-63\'-linked polyubiquitin chains at \'Lys-220\' of WASHC1 together with TRIM27, leading to promote endosomal F-actin assembly (PubMed:23452853). Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Significantly promotes the cytoplasmic accumulation of CLOCK (By similarity).',NULL,NULL,NULL,NULL,NULL),(10395,'UniProt Function',NULL,12430,NULL,'Acts as androgen receptor coregulator that increases androgen receptor activity by modulating the receptors interdomain interaction. May play a role in embryonal development and tumor transformation or aspects of tumor progression.',NULL,NULL,NULL,NULL,NULL),(10396,'UniProt Function',NULL,12431,NULL,'May have microtubule-stabilizing activity.',NULL,NULL,NULL,NULL,NULL),(10397,'UniProt Function',NULL,12432,NULL,'Element of the mTORC1 signaling pathway that acts as a mediator of diverse signals and that represses RNA polymerase III transcription. Inhibits the de novo assembly of TFIIIB onto DNA.',NULL,NULL,NULL,NULL,NULL),(10398,'UniProt Function',NULL,12435,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(10399,'UniProt Function',NULL,12437,NULL,'May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex.',NULL,NULL,NULL,NULL,NULL),(10400,'UniProt Function',NULL,12438,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). May donate electrons to ubiquinone.',NULL,NULL,NULL,NULL,NULL),(10401,'UniProt Function',NULL,12441,NULL,'Lymphotoxin beta-activated kinase which seems to be exclusively involved in the activation of NF-kappa-B and its transcriptional activity. Promotes proteolytic processing of NFKB2/P100, which leads to activation of NF-kappa-B via the non-canonical pathway. Could act in a receptor-selective manner.',NULL,NULL,NULL,NULL,NULL),(10402,'UniProt Function',NULL,12442,NULL,'Stress-activated serine/threonine-protein kinase involved in cytokines production, endocytosis, cell migration, chromatin remodeling and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. MAPKAPK2 and MAPKAPK3, share the same function and substrate specificity, but MAPKAPK3 kinase activity and level in protein expression are lower compared to MAPKAPK2. Phosphorylates HSP27/HSPB1, KRT18, KRT20, RCSD1, RPS6KA3, TAB3 and TTP/ZFP36. Mediates phosphorylation of HSP27/HSPB1 in response to stress, leading to dissociate HSP27/HSPB1 from large small heat-shock protein (sHsps) oligomers and impair their chaperone activities and ability to protect against oxidative stress effectively. Involved in inflammatory response by regulating tumor necrosis factor (TNF) and IL6 production post-transcriptionally: acts by phosphorylating AU-rich elements (AREs)-binding proteins, such as TTP/ZFP36, leading to regulate the stability and translation of TNF and IL6 mRNAs. Phosphorylation of TTP/ZFP36, a major post-transcriptional regulator of TNF, promotes its binding to 14-3-3 proteins and reduces its ARE mRNA affinity leading to inhibition of dependent degradation of ARE-containing transcript. Involved in toll-like receptor signaling pathway (TLR) in dendritic cells: required for acute TLR-induced macropinocytosis by phosphorylating and activating RPS6KA3. Also acts as a modulator of Polycomb-mediated repression.',NULL,NULL,NULL,NULL,NULL),(10403,'UniProt Function',NULL,12443,NULL,'Required for mitosis progression. Promotes the nucleation of microtubules from the spindle.',NULL,NULL,NULL,NULL,NULL),(10404,'UniProt Function',NULL,12444,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Specifically ubiquitinates \'Lys-63\' in target proteins (PubMed:23644597). Involved in the pathway leading to the degradation of VEGFR-2/KDFR, independently of its ubiquitin-ligase activity. Monoubiquitinates IGF1R at multiple sites, thus leading to receptor internalization and degradation in lysosomes. Ubiquitinates FGFR1, leading to receptor internalization and degradation in lysosomes. Promotes ubiquitination of RAPGEF2. According to PubMed:18562292 the direct link between NEDD4 and PTEN regulation through polyubiquitination described in PubMed:17218260 is questionable. Involved in ubiquitination of ERBB4 intracellular domain E4ICD. Involved in the budding of many viruses. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. Ubiquitinates TNK2 and regulates EGF-induced degradation of EGFR and TNF2. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046).',NULL,NULL,NULL,NULL,NULL),(10405,'UniProt Function',NULL,12444,NULL,'(Microbial infection) Involved in the ubiquitination of Ebola virus protein VP40 which plays a role in viral budding.',NULL,NULL,NULL,NULL,NULL),(10406,'UniProt Function',NULL,12445,NULL,'MARCKS is the most prominent cellular substrate for protein kinase C. This protein binds calmodulin, actin, and synapsin. MARCKS is a filamentous (F) actin cross-linking protein.',NULL,NULL,NULL,NULL,NULL),(10407,'UniProt Function',NULL,12446,NULL,'Serine/threonine-protein kinase (PubMed:23666762). Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Phosphorylates CDC25C on \'Ser-216\'. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus (PubMed:16980613). Negatively regulates the Hippo signaling pathway and antagonizes the phosphorylation of LATS1. Cooperates with DLG5 to inhibit the kinase activity of STK3/MST2 toward LATS1 (PubMed:28087714).',NULL,NULL,NULL,NULL,NULL),(10408,'UniProt Function',NULL,12447,NULL,'Serine/threonine-protein kinase (PubMed:15009667, PubMed:14594945, PubMed:23666762, PubMed:23184942). Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:14594945, PubMed:23666762). Also phosphorylates the microtubule-associated proteins MAP2 and MAP4 (PubMed:14594945). Involved in regulation of the microtubule network, causing reorganization of microtubules into bundles (PubMed:14594945, PubMed:25123532). Required for the initiation of axoneme extension during cilium assembly (PubMed:23400999). Regulates the centrosomal location of ODF2 and phosphorylates ODF2 in vitro (PubMed:23400999). Plays a role in cell cycle progression, specifically in the G1/S checkpoint (PubMed:25123532). Reduces neuronal cell survival (PubMed:15009667). Plays a role in energy homeostasis by regulating satiety and metabolic rate (By similarity). Promotes adipogenesis by activating JNK1 and inhibiting the p38MAPK pathway, and triggers apoptosis by activating the JNK1 pathway (By similarity). Phosphorylates mTORC1 complex member RPTOR and acts as a negative regulator of the mTORC1 complex, probably due to disruption of the interaction between phosphorylated RPTOR and the RRAGA/RRAGC heterodimer which is required for mTORC1 activation (PubMed:23184942).',NULL,NULL,NULL,NULL,NULL),(10409,'UniProt Function',NULL,12448,NULL,'Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II.',NULL,NULL,NULL,NULL,NULL),(10410,'UniProt Function',NULL,12449,NULL,'May function as a transcription factor with dual roles in transcription initiation and termination. Binds to two sites, ME1a1 and ME1a2, within the MYC promoter having greater affinity for the former. Also binds to multiple G/C-rich sites within the promoter of the Sp1 family of transcription factors. Regulates inflammation-induced expression of serum amyloid A proteins.',NULL,NULL,NULL,NULL,NULL),(10411,'UniProt Function',NULL,12450,NULL,'Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. May recruit MAD2L1 to unattached kinetochores. Has a role in the correct positioning of the septum. Required for anchoring MAD2L1 to the nuclear periphery. Binds to the TERT promoter and represses telomerase expression, possibly by interfering with MYC binding.',NULL,NULL,NULL,NULL,NULL),(10412,'UniProt Function',NULL,12451,NULL,'May function to silence the spindle checkpoint and allow mitosis to proceed through anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex.',NULL,NULL,NULL,NULL,NULL),(10413,'UniProt Function',NULL,12452,NULL,'Component of the MCM8-MCM9 complex, a complex involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR) (PubMed:23401855). Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity (PubMed:26215093). Probably by regulating the localization of the MRN complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs (PubMed:23401855). Acts as an helicase in DNA mismatch repair (MMR) following DNA replication errors to unwind the mismatch containing DNA strand (PubMed:26300262). In addition, recruits MLH1, a component of the MMR complex, to chromatin (PubMed:26300262). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). Probably by regulating HR, plays a key role during gametogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(10414,'UniProt Function',NULL,12453,NULL,'May be a component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity).',NULL,NULL,NULL,NULL,NULL),(10415,'UniProt Function',NULL,12455,NULL,'Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).',NULL,NULL,NULL,NULL,NULL),(10416,'UniProt Function',NULL,12456,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(10417,'UniProt Function',NULL,12457,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Required for cholesterol-dependent gene regulation. Positively regulates the Nodal signaling pathway.',NULL,NULL,NULL,NULL,NULL),(10418,'UniProt Function',NULL,12458,NULL,'Displays acyl-CoA-dependent lysophospholipid acyltransferase activity with a subset of lysophospholipids as substrates; converts lysophosphatidylethanolamine to phosphatidylethanolamine, lysophosphatidylcholine to phosphatidycholine, 1-alkenyl-lysophatidylethanolamine to 1-alkenyl-phosphatidylethanolamine, lysophosphatidylglycerol and alkyl-lysophosphatidylcholine to phosphatidylglycerol and alkyl-phosphatidylcholine, respectively. In contrast, has no lysophosphatidylinositol, glycerol-3-phosphate, diacylglycerol or lysophosphatidic acid acyltransferase activity. Prefers long chain acyl-CoAs (C16, C18) as acyl donors.',NULL,NULL,NULL,NULL,NULL),(10419,'UniProt Function',NULL,12459,NULL,'May act as an adapter that regulates LRP2 function.',NULL,NULL,NULL,NULL,NULL),(10420,'UniProt Function',NULL,12462,NULL,'Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYVE9/SARA recruits the intracellular signal transducer and transcriptional modulators SMAD2 and SMAD3 to the TGF-beta receptor. Phosphorylated by the receptor, SMAD2 and SMAD3 then form a heteromeric complex with SMAD4 that translocates to the nucleus to regulate transcription. Through interaction with SMAD2 and SMAD3, LDLRAD4 may compete with ZFYVE9 and SMAD4 and prevent propagation of the intracellular signal.',NULL,NULL,NULL,NULL,NULL),(10421,'UniProt Function',NULL,12463,NULL,'Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731, PubMed:29769723). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731). Mediates efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress (PubMed:28193731). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731). Can form functional channels by itself (in vitro) (PubMed:26824658). Involved in B-cell development: required for the pro-B cell to pre-B cell transition (PubMed:14660746). Also required for T-cell development (By similarity).',NULL,NULL,NULL,NULL,NULL),(10422,'UniProt Function',NULL,12466,NULL,'May play important roles in cardiac development and/or cardiac function.',NULL,NULL,NULL,NULL,NULL),(10423,'UniProt Function',NULL,12467,NULL,'Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel\'s voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium. KCNU1 channel auxiliary protein. May modulate KCNU1 gating properties.',NULL,NULL,NULL,NULL,NULL),(10424,'UniProt Function',NULL,12468,NULL,'Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel\'s voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium.',NULL,NULL,NULL,NULL,NULL),(10425,'UniProt Function',NULL,12470,NULL,'Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3\'-terminal U-tract of U6 snRNA (PubMed:10523320). Component of LSm protein complexes, which are involved in RNA processing and may function in a chaperone-like manner, facilitating the efficient association of RNA processing factors with their substrates. Component of the cytoplasmic LSM1-LSM7 complex, which is thought to be involved in mRNA degradation by activating the decapping step in the 5\'-to-3\' mRNA decay pathway (Probable).',NULL,NULL,NULL,NULL,NULL),(10426,'UniProt Function',NULL,12471,NULL,'Mediates selective neuronal growth and axon targeting. Contributes to the guidance of developing axons and remodeling of mature circuits in the limbic system. Essential for normal growth of the hyppocampal mossy fiber projection (By similarity).',NULL,NULL,NULL,NULL,NULL),(10427,'UniProt Function',NULL,12472,NULL,'Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. Its precise role is however unclear, since it does not bind to very low density lipoprotein (VLDL) or to LRPAP1 in vitro.',NULL,NULL,NULL,NULL,NULL),(10428,'UniProt Function',NULL,12473,NULL,'Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3\'-terminal U-tract of U6 snRNA (PubMed:10523320).',NULL,NULL,NULL,NULL,NULL),(10429,'UniProt Function',NULL,12474,NULL,'Exhibits a limited synaptogenic activity in vitro, restricted to excitatory presynaptic differentiation (By similarity). May play a role in the development and maintenance of the vertebrate nervous system.',NULL,NULL,NULL,NULL,NULL),(10430,'UniProt Function',NULL,12475,NULL,'Low-affinity receptor for leukotrienes including leukotriene B4. Mediates chemotaxis of granulocytes and macrophages. The response is mediated via G-proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTB4 > 12-epi-LTB4 > LTB5 > LTB3.',NULL,NULL,NULL,NULL,NULL),(10431,'UniProt Function',NULL,12476,NULL,'Possible candidate as a tumor suppressor gene of neuroblastoma. May play an important role in preventing cells from entering the final stage (G1/S) of the transformation process.',NULL,NULL,NULL,NULL,NULL),(10432,'UniProt Function',NULL,12478,NULL,'Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Mainly converts arachidonic acid to (12R)-hydroperoxyeicosatetraenoic acid/(12R)-HPETE and minor stereoisomers. In the skin, acts upstream of ALOXE3 on the lineolate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss. May also play a role in the regulation of the expression of airway mucins.',NULL,NULL,NULL,NULL,NULL),(10433,'UniProt Function',NULL,12479,NULL,'Negative regulator of katanin-mediated microtubule severing and release from the centrosome. Required for central spindle formation and the completion of cytokinesis. May negatively regulate axonal outgrowth by preventing the formation of microtubule bundles that are necessary for transport within the elongating axon. Negative regulator of the Wnt signaling pathway. Represses beta-catenin-mediated transcriptional activation by promoting the nuclear exclusion of beta-catenin.',NULL,NULL,NULL,NULL,NULL),(10434,'UniProt Function',NULL,12481,NULL,'Probable transcriptional regulator that may play a crucial role in embryogenesis.',NULL,NULL,NULL,NULL,NULL),(10435,'UniProt Function',NULL,12482,NULL,'May be involved in signal transduction as a component of a multimeric receptor complex.',NULL,NULL,NULL,NULL,NULL),(10436,'UniProt Function',NULL,12483,NULL,'May be involved in signal transduction as a component of a multimeric receptor complex.',NULL,NULL,NULL,NULL,NULL),(10437,'UniProt Function',NULL,12484,NULL,'Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.',NULL,NULL,NULL,NULL,NULL),(10438,'UniProt Function',NULL,12485,NULL,'Plays a role in the formation of tricellular tight junctions and of epithelial barriers (By similarity). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti (PubMed:17186462).',NULL,NULL,NULL,NULL,NULL),(10439,'UniProt Function',NULL,12486,NULL,'As a component of tight junctions, plays a role in paracellular ion conductivity.',NULL,NULL,NULL,NULL,NULL),(10440,'UniProt Function',NULL,12487,NULL,'May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.',NULL,NULL,NULL,NULL,NULL),(10441,'UniProt Function',NULL,12488,NULL,'RNA-binding protein that inhibits processing of pre-let-7 miRNAs and regulates translation of mRNAs that control developmental timing, pluripotency and metabolism (PubMed:21247876). Seems to recognize a common structural G-quartet (G4) feature in its miRNA and mRNA targets (Probable). \'Translational enhancer\' that drives specific mRNAs to polysomes and increases the efficiency of protein synthesis. Its association with the translational machinery and target mRNAs results in an increased number of initiation events per molecule of mRNA and, indirectly, in mRNA stabilization. Binds IGF2 mRNA, MYOD1 mRNA, ARBP/36B4 ribosomal protein mRNA and its own mRNA. Essential for skeletal muscle differentiation program through the translational up-regulation of IGF2 expression. Suppressor of microRNA (miRNA) biogenesis, including that of let-7, miR107, miR-143 and miR-200c. Specifically binds the miRNA precursors (pre-miRNAs), recognizing an 5\'-GGAG-3\' motif found in pre-miRNA terminal loop, and recruits TUT4 AND tut7 uridylyltransferaseS. This results in the terminal uridylation of target pre-miRNAs. Uridylated pre-miRNAs fail to be processed by Dicer and undergo degradation. The repression of let-7 expression is required for normal development and contributes to maintain the pluripotent state by preventing let-7-mediated differentiation of embryonic stem cells (PubMed:18951094, PubMed:19703396, PubMed:22118463, PubMed:22898984). Localized to the periendoplasmic reticulum area, binds to a large number of spliced mRNAs and inhibits the translation of mRNAs destined for the ER, reducing the synthesis of transmembrane proteins, ER or Golgi lumen proteins, and secretory proteins. Binds to and enhances the translation of mRNAs for several metabolic enzymes, such as PFKP, PDHA1 or SDHA, increasing glycolysis and oxidative phosphorylation. Which, with the let-7 repression may enhance tissue repair in adult tissue (By similarity).',NULL,NULL,NULL,NULL,NULL),(10442,'UniProt Function',NULL,12489,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65.',NULL,NULL,NULL,NULL,NULL),(10443,'UniProt Function',NULL,12489,NULL,'Isoform 2 provides an endocytic scaffold for IGSF5/JAM4.',NULL,NULL,NULL,NULL,NULL),(10444,'UniProt Function',NULL,12490,NULL,'May modulate the formation of a collagenous extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(10445,'UniProt Function',NULL,12492,NULL,'Required in retinal ON-bipolar cells for normal localization of the cation channel TRPM1 at dendrite tips (By similarity). May also have a role in cone synapse formation (By similarity). Might facilitate FGFR1 exit from the endoplasmic reticulum to the Golgi (PubMed:22673519). Could be a regulator of the FGFRs (PubMed:22673519).',NULL,NULL,NULL,NULL,NULL),(10446,'UniProt Function',NULL,12499,NULL,'Required for normal synaptic spine architecture and function. Necessary for DISC1 and GRM5 localization to postsynaptic density complexes and for both N-methyl D-aspartate receptor-dependent and metabotropic glutamate receptor-dependent long term depression.',NULL,NULL,NULL,NULL,NULL),(10447,'UniProt Function',NULL,12500,NULL,'Positively regulates autophagy through a calcium-dependent activation of the CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes. Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner. Regulates neuronal process morphology in the intact central nervous system (CNS). Plays a role in synaptic vesicle trafficking. Phosphorylates PRDX3. Has GTPase activity. May play a role in the phosphorylation of proteins central to Parkinson disease. Plays an important role in recuiting SEC16A to endoplasmic reticulum exit sites (ERES) and in regulating ER to Golgi vesicle-mediated transport and ERES organization (PubMed:25201882).',NULL,NULL,NULL,NULL,NULL),(10448,'UniProt Function',NULL,12501,NULL,'Possible role in phototransduction.',NULL,NULL,NULL,NULL,NULL),(10449,'UniProt Function',NULL,12502,NULL,'Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658). Mediates efflux of amino acids, such as aspartate, in response to osmotic stress (PubMed:28193731). Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731).',NULL,NULL,NULL,NULL,NULL),(10450,'UniProt Function',NULL,12504,NULL,'May play an important role in hippocampus-dependent long-lasting memory.',NULL,NULL,NULL,NULL,NULL),(10451,'UniProt Function',NULL,12505,NULL,'Involved in the development and maintenance of excitatory synapse in the vertebrate nervous system. Regulates surface expression of AMPA receptors and instructs the development of functional glutamate release sites. Acts as a ligand for the presynaptic receptors NRXN1-A and NRXN1-B (By similarity).',NULL,NULL,NULL,NULL,NULL),(10452,'UniProt Function',NULL,12506,NULL,'Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3\'-terminal U-tract of U6 snRNA (PubMed:10523320).',NULL,NULL,NULL,NULL,NULL),(10453,'UniProt Function',NULL,12507,NULL,'As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated.',NULL,NULL,NULL,NULL,NULL),(10454,'UniProt Function',NULL,12508,NULL,'May play a role in the downstream signal transduction pathways involving GRB2 and GRB7.',NULL,NULL,NULL,NULL,NULL),(10455,'UniProt Function',NULL,12509,NULL,'Ca(2+)-dependent receptor for myeloid cells that binds to carbohydrates on neutrophils and monocytes. Mediates the interaction of activated endothelial cells or platelets with leukocytes. The ligand recognized is sialyl-Lewis X. Mediates rapid rolling of leukocyte rolling over vascular surfaces during the initial steps in inflammation through interaction with SELPLG.',NULL,NULL,NULL,NULL,NULL),(10456,'UniProt Function',NULL,12510,NULL,'Required for nuclear and mitochondrial iron-sulfur protein biosynthesis.',NULL,NULL,NULL,NULL,NULL),(10457,'UniProt Function',NULL,12511,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10458,'UniProt Function',NULL,12513,NULL,'Transcription factor that activates insulin gene expression (PubMed:15993959, PubMed:12011435). Acts synergistically with NEUROD1/BETA2 and PDX1 (PubMed:15993959). Binds the insulin enhancer C1/RIPE3b element (PubMed:12011435). Binds to consensus TRE-type MARE 5\'-TGCTGACTCAGCA-3\' DNA sequence (PubMed:23148532, PubMed:29339498).',NULL,NULL,NULL,NULL,NULL),(10459,'UniProt Function',NULL,12516,NULL,'Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression.',NULL,NULL,NULL,NULL,NULL),(10460,'UniProt Function',NULL,12517,NULL,'Enhances BCL10-induced activation of NF-kappa-B. Involved in nuclear export of BCL10. Binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity. Has ubiquitin ligase activity. MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion. Involved in the induction of T helper 17 cells (Th17) differentiation. Cleaves RC3H1 and ZC3H12A in response to T-cell receptor (TCR) stimulation which releases their cooperatively repressed targets to promote Th17 cell differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10461,'UniProt Function',NULL,12518,NULL,'May act as a signaling scaffold protein that senses intracellular calcium. Can modulate ligand-induced internalization of ADORA2A and coupling efficiency of mGluR5/GRM5; for both receptors may regulate signaling activity such as promoting MAPK1/3 (ERK1/2) activation.',NULL,NULL,NULL,NULL,NULL),(10462,'UniProt Function',NULL,12519,NULL,'Required for lipopolysaccharide (LPS)-induced, TLR4-mediated activation of the MAPK/ERK pathway in macrophages, thus being critical for production of the proinflammatory cytokine TNF-alpha (TNF) during immune responses. Involved in the regulation of T-helper cell differentiation and IFNG expression in T-cells. Involved in mediating host resistance to bacterial infection through negative regulation of type I interferon (IFN) production. In vitro, activates MAPK/ERK pathway in response to IL1 in an IRAK1-independent manner, leading to up-regulation of IL8 and CCL4. Transduces CD40 and TNFRSF1A signals that activate ERK in B-cells and macrophages, and thus may play a role in the regulation of immunoglobulin production. May also play a role in the transduction of TNF signals that activate JNK and NF-kappa-B in some cell types. In adipocytes, activates MAPK/ERK pathway in an IKBKB-dependent manner in response to IL1B and TNF, but not insulin, leading to induction of lipolysis. Plays a role in the cell cycle. Isoform 1 shows some transforming activity, although it is much weaker than that of the activated oncogenic variant.',NULL,NULL,NULL,NULL,NULL),(10463,'UniProt Function',NULL,12520,NULL,'Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(10464,'UniProt Function',NULL,12521,NULL,'E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I, CD4 and ICAM1, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(10465,'UniProt Function',NULL,12522,NULL,'E3 ubiquitin-protein ligase (Probable). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(10466,'UniProt Function',NULL,12523,NULL,'Involved in microtubule stabilization in many cell types, including neuronal cells (By similarity). Specifically has microtubule cold stabilizing activity (By similarity). Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with TMEM106B (PubMed:24357581). Regulates KIF5A-mediated axonal cargo transport (By similarity). Regulates axonal growth during neuron polarization (By similarity).',NULL,NULL,NULL,NULL,NULL),(10467,'UniProt Function',NULL,12524,NULL,'Receptor specific to the heptapeptide core common to adrenocorticotropic hormone and alpha-, beta-, and gamma-MSH. Plays a central role in energy homeostasis and somatic growth. This receptor is mediated by G proteins that stimulate adenylate cyclase (cAMP).',NULL,NULL,NULL,NULL,NULL),(10468,'UniProt Function',NULL,12525,NULL,'Binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binds hemimethylated DNA as well. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing. Functions as a scaffold protein, targeting GATAD2A and GATAD2B to chromatin to promote repression. May enhance the activation of some unmethylated cAMP-responsive promoters.',NULL,NULL,NULL,NULL,NULL),(10469,'UniProt Function',NULL,12526,NULL,'Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form. Isoform 1 exhibits no activity toward RHOA, RAC1 or CDC42. Isoform 2 exhibits decreased GEF activity toward CDC42. Isoform 3 exhibits a weak but significant activity toward RAC1 and CDC42. Isoform 4 exhibits significant activity toward RHOA and CDC42. The truncated DBL oncogene is active toward RHOA, RAC1 and CDC42.',NULL,NULL,NULL,NULL,NULL),(10470,'UniProt Function',NULL,12528,NULL,'MCH may act as a neurotransmitter or neuromodulator in a broad array of neuronal functions directed toward the regulation of goal-directed behavior, such as food intake, and general arousal. May also have a role in spermatocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(10471,'UniProt Function',NULL,12529,NULL,'The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non-classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T-cells and neural cells. Differential splicing events combined with optional post-translational modifications give a wide spectrum of isomers, with each of them potentially having a specialized function. Induces T-cell proliferation.',NULL,NULL,NULL,NULL,NULL),(10472,'UniProt Function',NULL,12530,NULL,'Associated component of the MCM complex that acts as a regulator of DNA replication. Binds to the MCM complex during late S phase and promotes the disassembly of the MCM complex from chromatin, thereby acting as a key regulator of pre-replication complex (pre-RC) unloading from replicated DNA. Can dissociate the MCM complex without addition of ATP; probably acts by destabilizing interactions of each individual subunits of the MCM complex. Required for sister chromatid cohesion.',NULL,NULL,NULL,NULL,NULL),(10473,'UniProt Function',NULL,12531,NULL,'Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.',NULL,NULL,NULL,NULL,NULL),(10474,'UniProt Function',NULL,12532,NULL,'Acts as a replication initiation factor that brings together the MCM2-7 helicase and the DNA polymerase alpha/primase complex in order to initiate DNA replication. Additionally, plays a role in preventing DNA damage during replication. Key effector of the RBBP6 and ZBTB38-mediated regulation of DNA-replication and common fragile sites stability; acts as a direct target of transcriptional repression by ZBTB38 (PubMed:24726359).',NULL,NULL,NULL,NULL,NULL),(10475,'UniProt Function',NULL,12533,NULL,'Component of the MCM8-MCM9 complex, a complex involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR) (PubMed:23401855). Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity (PubMed:26215093). Probably by regulating the localization of the MNR complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs (PubMed:23401855). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). However, may play a non-essential for DNA replication: may be involved in the activation of the prereplicative complex (pre-RC) during G(1) phase by recruiting CDC6 to the origin recognition complex (ORC) (PubMed:15684404). Probably by regulating HR, plays a key role during gametogenesis (By similarity). Stabilizes MCM9 protein (PubMed:23401855, PubMed:26215093).',NULL,NULL,NULL,NULL,NULL),(10476,'UniProt Function',NULL,12535,NULL,'Modulates the transcription repressor activity of DAXX by recruiting it to the nucleolus (PubMed:11948183). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852). Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. May also be an inhibitor of TERT telomerase activity (PubMed:15044100). Binds to G-quadruplex structures in mRNA (PubMed:16571602). Binds to RNA homopolymer poly(G) and poly(U) (PubMed:16571602).',NULL,NULL,NULL,NULL,NULL),(10477,'UniProt Function',NULL,12536,NULL,'Involved in sperm motility. Its absence is associated with genetic background dependent male infertility. Infertility may be due to reduced sperm motility in the female reproductive tract and inability to penetrate the oocyte zona pellucida (By similarity).',NULL,NULL,NULL,NULL,NULL),(10478,'UniProt Function',NULL,12537,NULL,'Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria (PubMed:21685888, PubMed:21685886, PubMed:23101630, PubMed:22904319, PubMed:23178883, PubMed:22829870, PubMed:22822213, PubMed:24332854, PubMed:23755363, PubMed:26341627). Constitutes the pore-forming and calcium-conducting subunit of the uniporter complex (uniplex) (PubMed:23755363). Activity is regulated by MICU1 and MICU2. At low Ca(2+) levels MCU activity is down-regulated by MICU1 and MICU2; at higher Ca(2+) levels MICU1 increases MCU activity (PubMed:24560927, PubMed:26903221). Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways. Involved in buffering the amplitude of systolic calcium rises in cardiomyocytes (PubMed:22822213). While dispensable for baseline homeostatic cardiac function, acts as a key regulator of short-term mitochondrial calcium loading underlying a \'fight-or-flight\' response during acute stress: acts by mediating a rapid increase of mitochondrial calcium in pacemaker cells (PubMed:25603276). participates in mitochondrial permeability transition during ischemia-reperfusion injury (By similarity). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed:22904319, PubMed:22829870). Mitochondrial calcium uptake in skeletal muscle cells is involved in muscle size in adults (By similarity). Regulates synaptic vesicle endocytosis kinetics in central nerve terminal (By similarity). Involved in antigen processing and presentation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10479,'UniProt Function',NULL,12539,NULL,'Required for radial migration of cortical neurons in the superficial layer of the neocortex (By similarity). Plays a role in the formation or maintenance of inhibitory synapses. May function by inhibiting the activity of NLGN2.',NULL,NULL,NULL,NULL,NULL),(10480,'UniProt Function',NULL,12543,NULL,'May be involved in signal transduction as a component of a multimeric receptor complex.',NULL,NULL,NULL,NULL,NULL),(10481,'UniProt Function',NULL,12544,NULL,'Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression.',NULL,NULL,NULL,NULL,NULL),(10482,'UniProt Function',NULL,12545,NULL,'Member of the machinery of polarized transport. Required for the indirect transcytotic route at the step of the egress of the transcytosing cargo from perinuclear endosomes in order for it to travel to the apical surface via a raft-dependent pathway.',NULL,NULL,NULL,NULL,NULL),(10483,'UniProt Function',NULL,12546,NULL,'Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination in presence of Ubl-conjugating enzyme UBE2H leading to p53/TP53 degradation. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzymes (E2) at the E3:substrate complex.',NULL,NULL,NULL,NULL,NULL),(10484,'UniProt Function',NULL,12547,NULL,'Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ.',NULL,NULL,NULL,NULL,NULL),(10485,'UniProt Function',NULL,12548,NULL,'E3 ubiquitin-protein ligase that promotes ubiquitination of DIO2, leading to its degradation. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May cooperate with UBE2G1.',NULL,NULL,NULL,NULL,NULL),(10486,'UniProt Function',NULL,12549,NULL,'E3 ubiquitin-protein ligase which may specifically enhance the E2 activity of HIP2. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(10487,'UniProt Function',NULL,12550,NULL,'Structural protein involved in the filamentous cross-bridging between microtubules and other skeletal elements.',NULL,NULL,NULL,NULL,NULL),(10488,'UniProt Function',NULL,12551,NULL,'Microtubule-stabilizing protein that may play an important role during reorganization of microtubules during polarization and differentiation of epithelial cells. Associates with microtubules in a dynamic manner. May play a role in the formation of intercellular contacts. Colocalization with TRPV4 results in the redistribution of TRPV4 toward the membrane and may link cytoskeletal microfilaments.',NULL,NULL,NULL,NULL,NULL),(10489,'UniProt Function',NULL,12552,NULL,'Involved in organization of the bipolar mitotic spindle. Required for bipolar spindle assembly, mitosis progression and cytokinesis. May act by stabilizing interphase microtubules.',NULL,NULL,NULL,NULL,NULL),(10490,'UniProt Function',NULL,12553,NULL,'Calcium-dependent lectin involved in innate immune defense. Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells, facilitating their uptake by macrophages. May bind DNA.',NULL,NULL,NULL,NULL,NULL),(10491,'UniProt Function',NULL,12554,NULL,'Involved in matrix assembly.',NULL,NULL,NULL,NULL,NULL),(10492,'UniProt Function',NULL,12555,NULL,'Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone \'Lys-9\' trimethylation. Isoform 1 and isoform 2 can also repress transcription from unmethylated promoters.',NULL,NULL,NULL,NULL,NULL),(10493,'UniProt Function',NULL,12556,NULL,'Involved in regulated intramembrane proteolysis (RIP) that is the cleavage of membrane-spanning regulatory proteins by proteases within the plane of the membrane. It cleaves sterol-regulatory element-binding proteins (SREBPs) within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Mature N-terminal fragments shuttle to the nucleus and activate gene transcription (PubMed:9659902, PubMed:27380894). Involved in RIP-mediated regulation of bone formation (PubMed:27380894).',NULL,NULL,NULL,NULL,NULL),(10494,'UniProt Function',NULL,12557,NULL,'Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Has DNA glycosylase activity towards 5-hydroxyuracil and other oxidized derivatives of cytosine with a preference for mismatched double-stranded DNA (DNA bubbles). Has low or no DNA glycosylase activity towards thymine glycol, 2-hydroxyadenine, hypoxanthine and 8-oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the removed base with both 3\'- and 5\'-phosphates.',NULL,NULL,NULL,NULL,NULL),(10495,'UniProt Function',NULL,12558,NULL,'Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro).',NULL,NULL,NULL,NULL,NULL),(10496,'UniProt Function',NULL,12559,NULL,'The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors.',NULL,NULL,NULL,NULL,NULL),(10497,'UniProt Function',NULL,12561,NULL,'Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784). Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:20230784). In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death (PubMed:20230784). May be implicated in the control of meiosis (By similarity). Involved in cilium assembly (PubMed:21211617).',NULL,NULL,NULL,NULL,NULL),(10498,'UniProt Function',NULL,12562,NULL,'May have a role in the ERAD pathway required for clearance of misfolded proteins in the endoplasmic reticulum (ER). Promotes survival of motor neurons, probably by protecting against ER stress.',NULL,NULL,NULL,NULL,NULL),(10499,'UniProt Function',NULL,12564,NULL,'Plays an important role in meiotic recombination and associated DNA double-strand break repair.',NULL,NULL,NULL,NULL,NULL),(10500,'UniProt Function',NULL,12565,NULL,'Protein kinase which plays an important role in mitotic cell cycle progression (PubMed:14563848). Required for chromosome segregation at metaphase-anaphase transition, robust mitotic spindle formation and cytokinesis (PubMed:19414596). Phosphorylates ATF4, CIR1, PTN, RAD26L, RBBP6, RPS7, RPS6KB1, TRIP4, STAT3 and histones H1 and H3 (PubMed:12054534, PubMed:20873783). Phosphorylates KIF11 to promote mitotic spindle formation (PubMed:19001501). Involved in G2/M phase cell cycle arrest induced by DNA damage (PubMed:18728393). Inhibition of activity results in apoptosis. May contribute to tumorigenesis by suppressing p53/TP53-induced cancer cell senescence (PubMed:21099361).',NULL,NULL,NULL,NULL,NULL),(10501,'UniProt Function',NULL,12566,NULL,'Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for \'once per cell cycle\' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for DNA replication and cell proliferation.',NULL,NULL,NULL,NULL,NULL),(10502,'UniProt Function',NULL,12568,NULL,'May be involved in fertilization (By similarity). Has no detectable bacteriolytic and lysozyme activities in vitro (By similarity).',NULL,NULL,NULL,NULL,NULL),(10503,'UniProt Function',NULL,12569,NULL,'Catalyzes the transport of 2-oxoglutarate across the inner mitochondrial membrane in an electroneutral exchange for malate or other dicarboxylic acids, and plays an important role in several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, and in nitrogen metabolism (By similarity). Maintains mitochondrial fusion and fission events, and the organization and morphology of cristae (PubMed:21448454). Involved in the regulation of apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(10504,'UniProt Function',NULL,12570,NULL,'May be involved in signal transduction as a component of a multimeric receptor complex.',NULL,NULL,NULL,NULL,NULL),(10505,'UniProt Function',NULL,12573,NULL,'Adhesion molecule that mediates interactions between myelinating cells and neurons by binding to neuronal sialic acid-containing gangliosides and to the glycoproteins RTN4R and RTN4RL2 (By similarity). Not required for initial myelination, but seems to play a role in the maintenance of normal axon myelination. Protects motoneurons against apoptosis, also after injury; protection against apoptosis is probably mediated via interaction with neuronal RTN4R and RTN4RL2. Required to prevent degeneration of myelinated axons in adults; this probably depends on binding to gangliosides on the axon cell membrane (By similarity). Negative regulator of neurite outgrowth; in dorsal root ganglion neurons the inhibition is mediated primarily via binding to neuronal RTN4R or RTN4RL2 and to a lesser degree via binding to neuronal gangliosides. In cerebellar granule cells the inhibition is mediated primarily via binding to neuronal gangliosides. In sensory neurons, inhibition of neurite extension depends only partially on RTN4R, RTN4RL2 and gangliosides. Inhibits axon longitudinal growth (By similarity). Inhibits axon outgrowth by binding to RTN4R (By similarity). Preferentially binds to alpha-2,3-linked sialic acid. Binds ganglioside Gt1b (By similarity).',NULL,NULL,NULL,NULL,NULL),(10506,'UniProt Function',NULL,12574,NULL,'Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Plays a role in estrogen signaling. Binds to androgen receptor (AR) and amplifies the transactivation function of AR in response to androgen. May play an important role in carcinogenesis and/or progression of hormone-dependent cancers by feed-forward mechanism that activates ESR1 transactivation. Could be an ESR1 coactivator, providing a positive feedback regulatory loop for ESR1 signal transduction. Could be involved in invasive growth by down-regulating CDH1 in endometrial cancer cells. Enhances ESR1-mediated transcription activity.',NULL,NULL,NULL,NULL,NULL),(10507,'UniProt Function',NULL,12576,NULL,'Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule.',NULL,NULL,NULL,NULL,NULL),(10508,'UniProt Function',NULL,12577,NULL,'May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex.',NULL,NULL,NULL,NULL,NULL),(10509,'UniProt Function',NULL,12578,NULL,'Could be an important component in vesicular trafficking cycling between the Golgi complex and the apical plasma membrane. Could be involved in myelin biogenesis and/or myelin function.',NULL,NULL,NULL,NULL,NULL),(10510,'UniProt Function',NULL,12580,NULL,'Inhibits the interaction of APBA2 with amyloid-beta precursor protein (APP), and hence allows formation of amyloid-beta. May enhance the activity of HIF1A and thus promote glycolysis under normoxic conditions; the function requires its ABM domain and may implicate the stabilization of the interaction between HIF1AN and APBA3.',NULL,NULL,NULL,NULL,NULL),(10511,'UniProt Function',NULL,12581,NULL,'Serine/threonine kinase that may play a role in the response to environmental stress and cytokines such as TNF-alpha. Appears to act upstream of the JUN N-terminal pathway. Phosphorylates SMAD1 on Thr-322.',NULL,NULL,NULL,NULL,NULL),(10512,'UniProt Function',NULL,12582,NULL,'May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.',NULL,NULL,NULL,NULL,NULL),(10513,'UniProt Function',NULL,12583,NULL,'Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase.',NULL,NULL,NULL,NULL,NULL),(10514,'UniProt Function',NULL,12584,NULL,'Tumor suppressor serine/threonine-protein kinase involved in mTORC1 signaling and post-transcriptional regulation. Phosphorylates FOXO3, ERK3/MAPK6, ERK4/MAPK4, HSP27/HSPB1, p53/TP53 and RHEB. Acts as a tumor suppressor by mediating Ras-induced senescence and phosphorylating p53/TP53. Involved in post-transcriptional regulation of MYC by mediating phosphorylation of FOXO3: phosphorylation of FOXO3 leads to promote nuclear localization of FOXO3, enabling expression of miR-34b and miR-34c, 2 post-transcriptional regulators of MYC that bind to the 3\'UTR of MYC transcript and prevent MYC translation. Acts as a negative regulator of mTORC1 signaling by mediating phosphorylation and inhibition of RHEB. Part of the atypical MAPK signaling via its interaction with ERK3/MAPK6 or ERK4/MAPK4: the precise role of the complex formed with ERK3/MAPK6 or ERK4/MAPK4 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPK (ERK3/MAPK6 or ERK4/MAPK4), ERK3/MAPK6 (or ERK4/MAPK4) is phosphorylated and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK3/MAPK6 (or ERK4/MAPK4). Mediates phosphorylation of HSP27/HSPB1 in response to PKA/PRKACA stimulation, inducing F-actin rearrangement.',NULL,NULL,NULL,NULL,NULL),(10515,'UniProt Function',NULL,12585,NULL,'Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10516,'UniProt Function',NULL,12586,NULL,'Involved in melanosome biogenesis by ensuring the stability of GPR143. Plays a vital role in the expression, stability, trafficking, and processing of melanocyte protein PMEL, which is critical to the formation of stage II melanosomes.',NULL,NULL,NULL,NULL,NULL),(10517,'UniProt Function',NULL,12587,NULL,'Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity in part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10518,'UniProt Function',NULL,12588,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination of TFRC, CD86, FAS and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. By constitutively ubiquitinating MHC class II proteins in immature dendritic cells, down-regulates their cell surface localization thus sequestering them in the intracellular endosomal system.',NULL,NULL,NULL,NULL,NULL),(10519,'UniProt Function',NULL,12589,NULL,'May activate or repress transcription via interactions with sequence specific DNA-binding proteins (By similarity). Repression may be mediated at least in part by histone deacetylase activity (HDAC activity) (By similarity). Acts as a corepressor and in concert with CRY1, represses the transcription of the core circadian clock component PER2 (By similarity). Preferentially binds to dimethylated histone H3 \'Lys-9\' (H3K9me2) on the PER2 promoter (By similarity). Has a role in rRNA biogenesis together with PWP1 (PubMed:29065309).',NULL,NULL,NULL,NULL,NULL),(10520,'UniProt Function',NULL,12591,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10521,'UniProt Function',NULL,12592,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10522,'UniProt Function',NULL,12593,NULL,'Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-3:beta-4-containing nAChRs maximum response. May play a role in the intracellular trafficking of alpha-7-containing nAChRs and may inhibit their expression at the cell surface. Seems to inhibit alpha-7/CHRNA7 signaling in hippocampal neurons.',NULL,NULL,NULL,NULL,NULL),(10523,'UniProt Function',NULL,12594,NULL,'Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane.',NULL,NULL,NULL,NULL,NULL),(10524,'UniProt Function',NULL,12595,NULL,'May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules.',NULL,NULL,NULL,NULL,NULL),(10525,'UniProt Function',NULL,12596,NULL,'Involved in the regulation of cell growth. May stabilize the active CDC2-cyclin B1 complex and thereby contribute to the regulation of the cell cycle and the prevention of uncontrolled cell proliferation. May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(10526,'UniProt Function',NULL,12597,NULL,'May be involved in signal transduction as a component of a multimeric receptor complex.',NULL,NULL,NULL,NULL,NULL),(10527,'UniProt Function',NULL,12599,NULL,'Transcriptional repressor. MAD binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5\'-CAC[GA]TG-3\'. MAD thus antagonizes MYC transcriptional activity by competing for MAX.',NULL,NULL,NULL,NULL,NULL),(10528,'UniProt Function',NULL,12600,NULL,'Activates the JUN N-terminal pathway. Required for serum-stimulated cell proliferation and for mitogen and cytokine activation of MAPK14 (p38), MAPK3 (ERK) and MAPK8 (JNK1) through phosphorylation and activation of MAP2K4/MKK4 and MAP2K7/MKK7. Plays a role in mitogen-stimulated phosphorylation and activation of BRAF, but does not phosphorylate BRAF directly. Influences microtubule organization during the cell cycle.',NULL,NULL,NULL,NULL,NULL),(10529,'UniProt Function',NULL,12601,NULL,'Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death (TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is resistant and isoform 3 and isoform 4 have no effect.',NULL,NULL,NULL,NULL,NULL),(10530,'UniProt Function',NULL,12602,NULL,'Microtubule-associated protein that exhibits cell cycle-dependent localization and can inhibit cell proliferation and migration.',NULL,NULL,NULL,NULL,NULL),(10531,'UniProt Function',NULL,12603,NULL,'Component of a protein kinase signal transduction cascade. Regulates the JNK and ERK5 pathways by phosphorylating and activating MAP2K5 and MAP2K7 (By similarity). Plays a role in caveolae kiss-and-run dynamics.',NULL,NULL,NULL,NULL,NULL),(10532,'UniProt Function',NULL,12604,NULL,'Component of a protein kinase signal transduction cascade. Mediates activation of the NF-kappa-B, AP1 and DDIT3 transcriptional regulators.',NULL,NULL,NULL,NULL,NULL),(10533,'UniProt Function',NULL,12605,NULL,'Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). MAEA is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972). Plays a role in erythroblast enucleation during erythrocyte maturation and in the development of mature macrophages (By similarity). Mediates the attachment of erythroid cell to mature macrophages; this MAEA-mediated contact inhibits erythroid cell apoptosis (PubMed:9763581). Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages (By similarity). May contribute to nuclear architecture and cells division events (Probable).',NULL,NULL,NULL,NULL,NULL),(10534,'UniProt Function',NULL,12606,NULL,'Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells.',NULL,NULL,NULL,NULL,NULL),(10535,'UniProt Function',NULL,12607,NULL,'Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1.',NULL,NULL,NULL,NULL,NULL),(10536,'UniProt Function',NULL,12609,NULL,'Involved in endocytosis.',NULL,NULL,NULL,NULL,NULL),(10537,'UniProt Function',NULL,12611,NULL,'Mitochondrial E3 ubiquitin-protein ligase that plays a crucial role in the control of mitochondrial morphology by acting as a positive regulator of mitochondrial fission. May play a role in the prevention of cell senescence acting as a regulator of mitochondrial quality control. Promotes ubiquitination of FIS1, DNM1L and MFN1.',NULL,NULL,NULL,NULL,NULL),(10538,'UniProt Function',NULL,12612,NULL,'As a component of an N-hydroxylated prodrug-converting complex required to reduce N-hydroxylated prodrugs, such as benzamidoxime. Also able to reduce N(omega)-hydroxy-L-arginine (NOHA) and N(omega)-hydroxy-N(delta)-methyl-L-arginine (NHAM) into L-arginine and N(delta)-methyl-L-arginine, respectively.',NULL,NULL,NULL,NULL,NULL),(10539,'UniProt Function',NULL,12613,NULL,'Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity). Specifically binds to monomethylated and dimethylated \'Lys-20\' on histone H4.',NULL,NULL,NULL,NULL,NULL),(10540,'UniProt Function',NULL,12614,NULL,'Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5\'-YGCU(U/G)Y-3\'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues.',NULL,NULL,NULL,NULL,NULL),(10541,'UniProt Function',NULL,12615,NULL,'Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in the ligand-mediated internalization and down-regulation of EGF receptor.',NULL,NULL,NULL,NULL,NULL),(10542,'UniProt Function',NULL,12616,NULL,'Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (By similarity). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:27271801). Binds single-stranded RNA (ssRNA) (PubMed:27271801).',NULL,NULL,NULL,NULL,NULL),(10543,'UniProt Function',NULL,12617,NULL,'Catalytic subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5\'-cap structure of mRNAs (PubMed:9790902, PubMed:9705270, PubMed:10347220, PubMed:11114884, PubMed:22099306, PubMed:27422871). Binds RNA containing 5\'-terminal GpppC (PubMed:11114884).',NULL,NULL,NULL,NULL,NULL),(10544,'UniProt Function',NULL,12618,NULL,'Acyltransferase which mediates the conversion of lysophosphatidylethanolamine (1-acyl-sn-glycero-3-phosphoethanolamine or LPE) into phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine or PE) (LPEAT activity). Catalyzes also the acylation of lysophosphatidic acid (LPA) into phosphatidic acid (PA) (LPAAT activity). Has also a very weak lysophosphatidylcholine acyltransferase (LPCAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle.',NULL,NULL,NULL,NULL,NULL),(10545,'UniProt Function',NULL,12619,NULL,'Transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(10546,'UniProt Function',NULL,12621,NULL,'Transcription regulator specifically required for multiciliate cell differentiation. Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deuterosome-mediated acentriolar pathway (PubMed:25048963). Plays a role in mitotic cell cycle progression by promoting cell cycle exit. Modulates GMNN activity by reducing its affinity for CDT1 (PubMed:21543332, PubMed:24064211).',NULL,NULL,NULL,NULL,NULL),(10547,'UniProt Function',NULL,12622,NULL,'Component of a protein kinase signal transduction cascade. Activates the CSBP2, P38 and JNK MAPK pathways, but not the ERK pathway. Specifically phosphorylates and activates MAP2K4 and MAP2K6.',NULL,NULL,NULL,NULL,NULL),(10548,'UniProt Function',NULL,12623,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).',NULL,NULL,NULL,NULL,NULL),(10549,'UniProt Function',NULL,12624,NULL,'Selectively promotes the survival of dopaminergic neurons of the ventral mid-brain (PubMed:12794311). Modulates GABAergic transmission to the dopaminergic neurons of the substantia nigra (By similarity). Enhances spontaneous, as well as evoked, GABAergic inhibitory postsynaptic currents in dopaminergic neurons (By similarity). Inhibits cell proliferation and endoplasmic reticulum (ER) stress-induced cell death (PubMed:18561914, PubMed:22637475, PubMed:29497057). Retained in the ER/sarcoplasmic reticulum (SR) through association with the endoplasmic reticulum chaperone protein HSPA5 under normal conditions (PubMed:22637475). Up-regulated and secreted by the ER/SR in response to ER stress and hypoxia (PubMed:22637475). Following secretion by the ER/SR, directly binds to 3-O-sulfogalactosylceramide, a lipid sulfatide in the outer cell membrane of target cells (PubMed:29497057). Sulfatide binding promotes its cellular uptake by endocytosis, and is required for its role in alleviating ER stress and cell toxicity under hypoxic and ER stress conditions (PubMed:29497057).',NULL,NULL,NULL,NULL,NULL),(10550,'UniProt Function',NULL,12626,NULL,'May be involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(10551,'UniProt Function',NULL,12627,NULL,'As a component of the benzamidoxime prodrug-converting complex required to reduce N-hydroxylated prodrugs, such as benzamidoxime. Also able to reduce N(omega)-hydroxy-L-arginine (NOHA) and N(omega)-hydroxy-N(delta)-methyl-L-arginine (NHAM) into L-arginine and N(delta)-methyl-L-arginine, respectively.',NULL,NULL,NULL,NULL,NULL),(10552,'UniProt Function',NULL,12628,NULL,'Essential regulator of oogenesis required for female meiotic progression to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Probably acts via some RNA metabolic process, equivalent to the piRNA system in males, which mediates the repression of transposable elements during meiosis by forming complexes composed of RNAs and governs the methylation and subsequent repression of transposons. Also required to protect from DNA double-strand breaks (By similarity).',NULL,NULL,NULL,NULL,NULL),(10553,'UniProt Function',NULL,12629,NULL,'Pattern recognition receptor (PRR) which binds Gram-positive and Gram-negative bacteria (PubMed:9468508). Also plays a role in binding of unopsonized particles by alveolar macrophages (By similarity). Binds to the secretoglobin SCGB3A2 (PubMed:12847263).',NULL,NULL,NULL,NULL,NULL),(10554,'UniProt Function',NULL,12630,NULL,'Acyltransferase which mediates the conversion of lysophosphatidylcholine (1-acyl-sn-glycero-3-phosphocholine or LPC) into phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) (LPCAT activity). Catalyzes also the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L-serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine or PS) (LPSAT activity). Has also weak lysophosphatidylethanolamine acyltransferase activity (LPEAT activity). Favors polyunsaturated fatty acyl-CoAs as acyl donors compared to saturated fatty acyl-CoAs. Seems to be the major enzyme contributing to LPCAT activity in the liver. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle.',NULL,NULL,NULL,NULL,NULL),(10555,'UniProt Function',NULL,12632,NULL,'E3 ubiquitin-protein ligase. Mediates monoubiquitination at multiple sites of TSG101 in the presence of UBE2D1, but not of UBE2G1, nor UBE2H. Plays a role in the regulation of endosome-to-lysosome trafficking. Impairs MC1R- and MC4R-signaling by competing with GNAS-binding to MCRs and inhibiting agonist-induced cAMP production. Does not inhibit ADRB2-signaling. Does not promote MC1R ubiquitination. Acts also as a negative regulator of hedgehog signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(10556,'UniProt Function',NULL,12633,NULL,'Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization. In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2). Seems to act as Rab effector protein and plays a role in vesicle trafficking. Involved in exocytic vesicles tethering and fusion: the monooxygenase activity is required for this process and implicates RAB8A associated with exocytotic vesicles. Required for cytokinesis. Contributes to stabilization and/or maturation of the intercellular bridge independently of its monooxygenase activity. Promotes recruitment of Rab8 and ERC1 to the intercellular bridge, and together these proteins are proposed to function in timely abscission.',NULL,NULL,NULL,NULL,NULL),(10557,'UniProt Function',NULL,12634,NULL,'Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810). Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin (PubMed:19801555, PubMed:22642810, PubMed:25809485). Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen (PubMed:19801555). Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives (PubMed:21071249).',NULL,NULL,NULL,NULL,NULL),(10558,'UniProt Function',NULL,12635,NULL,'E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.',NULL,NULL,NULL,NULL,NULL),(10559,'UniProt Function',NULL,12636,NULL,'Carbohydrate-binding protein with a strong ligand preference for Glc2-N-glycan. May play a role in the early steps of protein N-glycosylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10560,'UniProt Function',NULL,12637,NULL,'Metalloprotease involved in sperm function, possibly by modulating the processes of fertilization and early embryonic development. Degrades a broad variety of small peptides with a preference for peptides shorter than 3 kDa containing neutral bulky aliphatic or aromatic amino acid residues. Shares the same substrate specificity with MME and cleaves peptides at the same amide bond (By similarity).',NULL,NULL,NULL,NULL,NULL),(10561,'UniProt Function',NULL,12638,NULL,'Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis.',NULL,NULL,NULL,NULL,NULL),(10562,'UniProt Function',NULL,12639,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10563,'UniProt Function',NULL,12640,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10564,'UniProt Function',NULL,12641,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10565,'UniProt Function',NULL,12642,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10566,'UniProt Function',NULL,12643,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10567,'UniProt Function',NULL,12644,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10568,'UniProt Function',NULL,12645,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10569,'UniProt Function',NULL,12646,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10570,'UniProt Function',NULL,12647,NULL,'Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. With MAP3K3/MKK3, catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinases p38 MAPK11, MAPK12, MAPK13 and MAPK14 and plays an important role in the regulation of cellular responses to cytokines and all kinds of stresses. Especially, MAP2K3/MKK3 and MAP2K6/MKK6 are both essential for the activation of MAPK11 and MAPK13 induced by environmental stress, whereas MAP2K6/MKK6 is the major MAPK11 activator in response to TNF. MAP2K6/MKK6 also phosphorylates and activates PAK6. The p38 MAP kinase signal transduction pathway leads to direct activation of transcription factors. Nuclear targets of p38 MAP kinase include the transcription factors ATF2 and ELK1. Within the p38 MAPK signal transduction pathway, MAP3K6/MKK6 mediates phosphorylation of STAT4 through MAPK14 activation, and is therefore required for STAT4 activation and STAT4-regulated gene expression in response to IL-12 stimulation. The pathway is also crucial for IL-6-induced SOCS3 expression and down-regulation of IL-6-mediated gene induction; and for IFNG-dependent gene transcription. Has a role in osteoclast differentiation through NF-kappa-B transactivation by TNFSF11, and in endochondral ossification and since SOX9 is another likely downstream target of the p38 MAPK pathway. MAP2K6/MKK6 mediates apoptotic cell death in thymocytes. Acts also as a regulator for melanocytes dendricity, through the modulation of Rho family GTPases.',NULL,NULL,NULL,NULL,NULL),(10571,'UniProt Function',NULL,12648,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10572,'UniProt Function',NULL,12649,NULL,'Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K4/MKK4, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylation site in the Thr-Pro-Tyr motif. MAP2K4/MKK4 shows preference for phosphorylation of the Tyr residue and MAP2K7/MKK7 for the Thr residue. The monophosphorylation of JNKs on the Thr residue is sufficient to increase JNK activity indicating that MAP2K7/MKK7 is important to trigger JNK activity, while the additional phosphorylation of the Tyr residue by MAP2K4/MKK4 ensures optimal JNK activation. Has a specific role in JNK signal transduction pathway activated by proinflammatory cytokines. The MKK/JNK signaling pathway is also involved in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis. Part of a non-canonical MAPK signaling pathway, composed of the upstream MAP3K12 kinase and downstream MAP kinases MAPK1/ERK2 and MAPK3/ERK1, that enhances the AP-1-mediated transcription of APP in response to APOE (PubMed:28111074).',NULL,NULL,NULL,NULL,NULL),(10573,'UniProt Function',NULL,12650,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10574,'UniProt Function',NULL,12651,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10575,'UniProt Function',NULL,12652,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10576,'UniProt Function',NULL,12653,NULL,'Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10577,'UniProt Function',NULL,12654,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10578,'UniProt Function',NULL,12655,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10579,'UniProt Function',NULL,12656,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10580,'UniProt Function',NULL,12657,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10581,'UniProt Function',NULL,12658,NULL,'RNA-binding protein that associates with the RNA exosome complex. Involved in the 3\'-processing of the 7S pre-RNA to the mature 5.8S rRNA and play a role in recruiting the RNA exosome complex to pre-rRNA; this function may include C1D.',NULL,NULL,NULL,NULL,NULL),(10582,'UniProt Function',NULL,12659,NULL,'Acts as an important adapter that promotes epithelial cell polarity and tight junction formation via its interaction with DLG1. Involved in the assembly of protein complexes at sites of cell-cell contact.',NULL,NULL,NULL,NULL,NULL),(10583,'UniProt Function',NULL,12660,NULL,'Heterochromatin component that specifically recognizes and binds methylated \'Lys-9\' of histone H3 (H3K9me) and promotes recruitment of proteins that mediate epigenetic repression (PubMed:20871592, PubMed:26022416). Mediates recruitment of the HUSH complex to H3K9me3 sites: the HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3 (PubMed:26022416). Binds H3K9me and promotes DNA methylation by recruiting DNMT3A to target CpG sites; these can be situated within the coding region of the gene (PubMed:20871592). Mediates down-regulation of CDH1 expression (PubMed:20871592).',NULL,NULL,NULL,NULL,NULL),(10584,'UniProt Function',NULL,12662,NULL,'Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Catalyzes the deacylation of O-acetyl-ADP-ribose, O-propionyl-ADP-ribose and O-butyryl-ADP-ribose, yielding ADP-ribose plus acetate, propionate and butyrate, respectively.',NULL,NULL,NULL,NULL,NULL),(10585,'UniProt Function',NULL,12663,NULL,'Targets myosin phosphatase to the actin cytoskeleton. Required for the regulation of the actin cytoskeleton by RhoA and ROCK1. Depletion leads to an increased number of stress fibers in smooth muscle cells through stabilization of actin fibers by phosphorylated myosin. Overexpression of MRIP as well as its F-actin-binding region leads to disassembly of stress fibers in neuronal cells.',NULL,NULL,NULL,NULL,NULL),(10586,'UniProt Function',NULL,12664,NULL,'Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex.',NULL,NULL,NULL,NULL,NULL),(10587,'UniProt Function',NULL,12665,NULL,'Does not have 2\'-5\'-OAS activity, but can bind double-stranded RNA. Displays antiviral activity against encephalomyocarditis virus (EMCV) and hepatitis C virus (HCV) via an alternative antiviral pathway independent of RNase L.',NULL,NULL,NULL,NULL,NULL),(10588,'UniProt Function',NULL,12668,NULL,'Orphan receptor. May regulate nociceptor function and/or development, including the sensation or modulation of pain (By similarity).',NULL,NULL,NULL,NULL,NULL),(10589,'UniProt Function',NULL,12669,NULL,'Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins including BAM22 (bovine adrenal medulla peptide 22) and BAM (8-22)(PubMed:26582731). BAM22 is the most potent compound and evoked a large and dose-dependent release of intracellular calcium in stably transfected cells. G(alpha)q proteins are involved in the calcium-signaling pathway. Activated by the antimalarial drug, chloroquine. May mediate chloroquine-induced itch, in a histamine-independent manner.',NULL,NULL,NULL,NULL,NULL),(10590,'UniProt Function',NULL,12670,NULL,'Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins (By similarity).',NULL,NULL,NULL,NULL,NULL),(10591,'UniProt Function',NULL,12671,NULL,'Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins (By similarity).',NULL,NULL,NULL,NULL,NULL),(10592,'UniProt Function',NULL,12672,NULL,'May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions.',NULL,NULL,NULL,NULL,NULL),(10593,'UniProt Function',NULL,12673,NULL,'S-adenosyl-L-methionine-dependent 2\'-O-ribose methyltransferase that catalyzes the formation of 2\'-O-methylguanosine at position 1145 (Gm1145) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA.',NULL,NULL,NULL,NULL,NULL),(10594,'UniProt Function',NULL,12674,NULL,'S-adenosyl-L-methionine-dependent 2\'-O-ribose methyltransferase that catalyzes the formation of 2\'-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA.',NULL,NULL,NULL,NULL,NULL),(10595,'UniProt Function',NULL,12675,NULL,'May play a role in the process of sperm capacitation.',NULL,NULL,NULL,NULL,NULL),(10596,'UniProt Function',NULL,12676,NULL,'Beta-oxidation of fatty acids. The highest activity concerns the C6 to C10 chain length substrate. Converts the end product of pristanic acid beta oxidation, 4,8-dimethylnonanoyl-CoA, to its corresponding carnitine ester.',NULL,NULL,NULL,NULL,NULL),(10597,'UniProt Function',NULL,12677,NULL,'Mediates hepatobiliary excretion of numerous organic anions. May function as a cellular cisplatin transporter.',NULL,NULL,NULL,NULL,NULL),(10598,'UniProt Function',NULL,12678,NULL,'May act as an inducible transporter in the biliary and intestinal excretion of organic anions. Acts as an alternative route for the export of bile acids and glucuronides from cholestatic hepatocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(10599,'UniProt Function',NULL,12679,NULL,'Acts as a multispecific organic anion pump which can transport nucleotide analogs.',NULL,NULL,NULL,NULL,NULL),(10600,'UniProt Function',NULL,12680,NULL,'ATP-dependent transporter probably involved in cellular detoxification through lipophilic anion extrusion.',NULL,NULL,NULL,NULL,NULL),(10601,'UniProt Function',NULL,12686,NULL,'Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Recruited on chromatin in G1 and early S phase via its PWWP domain that specifically binds trimethylated \'Lys-36\' of histone H3 (H3K36me3): early recruitment to chromatin to be replicated allowing a quick identification of mismatch repair to initiate the DNA mismatch repair reaction.',NULL,NULL,NULL,NULL,NULL),(10602,'UniProt Function',NULL,12687,NULL,'The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.',NULL,NULL,NULL,NULL,NULL),(10603,'UniProt Function',NULL,12688,NULL,'The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.',NULL,NULL,NULL,NULL,NULL),(10604,'UniProt Function',NULL,12689,NULL,'Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Upon oxidative stress, may play a role in the preservation of mitochondrial integrity by decreasing the intracellular reactive oxygen species build-up through its scavenging role, hence contributing to cell survival and protein maintenance.',NULL,NULL,NULL,NULL,NULL),(10605,'UniProt Function',NULL,12690,NULL,'Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing.',NULL,NULL,NULL,NULL,NULL),(10606,'UniProt Function',NULL,12691,NULL,'Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex.',NULL,NULL,NULL,NULL,NULL),(10607,'UniProt Function',NULL,12692,NULL,'Guanine-nucleotide-releasing protein that acts on members of the SEC4/YPT1/RAB subfamily. Stimulates GDP release from both YPT1 and RAB3A, but is less active on these proteins than on the SEC4 protein. Might play a general role in vesicular transport.',NULL,NULL,NULL,NULL,NULL),(10608,'UniProt Function',NULL,12694,NULL,'May be involved in the development and regeneration of the musculoskeletal system.',NULL,NULL,NULL,NULL,NULL),(10609,'UniProt Function',NULL,12695,NULL,'Metallothioneins have a high content of cysteine residues that bind various heavy metals.',NULL,NULL,NULL,NULL,NULL),(10610,'UniProt Function',NULL,12696,NULL,'Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.',NULL,NULL,NULL,NULL,NULL),(10611,'UniProt Function',NULL,12697,NULL,'Protein-lysine methyltransferase.',NULL,NULL,NULL,NULL,NULL),(10612,'UniProt Function',NULL,12698,NULL,'Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs).',NULL,NULL,NULL,NULL,NULL),(10613,'UniProt Function',NULL,12700,NULL,'Binds heavy metals. Contains three zinc and three copper atoms per polypeptide chain and only a negligible amount of cadmium. Inhibits survival and neurite formation of cortical neurons in vitro.',NULL,NULL,NULL,NULL,NULL),(10614,'UniProt Function',NULL,12701,NULL,'Prolyl 3-hydroxylase that catalyzes 3-hydroxylation of \'Pro-62\' of small ribosomal subunit uS12 (RPS23), thereby regulating protein translation termination efficiency. Involved in stress granule formation.',NULL,NULL,NULL,NULL,NULL),(10615,'UniProt Function',NULL,12702,NULL,'DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3\' to the lesion.',NULL,NULL,NULL,NULL,NULL),(10616,'UniProt Function',NULL,12703,NULL,'The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization. They also seem to have a stiffening effect on microtubules.',NULL,NULL,NULL,NULL,NULL),(10617,'UniProt Function',NULL,12704,NULL,'Catalyzes the reversible phosphorylation of S-methyl-5\'-thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.',NULL,NULL,NULL,NULL,NULL),(10618,'UniProt Function',NULL,12705,NULL,'Potential mitochondrial transporter. May play a role in apoptosis.',NULL,NULL,NULL,NULL,NULL),(10619,'UniProt Function',NULL,12706,NULL,'The substrate transported is not yet known. Induces mitochondrial depolarization.',NULL,NULL,NULL,NULL,NULL),(10620,'UniProt Function',NULL,12707,NULL,'Inhibits cell migration in vitro and suppresses the invasive behavior of tumor cells (By similarity). May play a role in MDM2-dependent p53/TP53 homeostasis in unstressed cells. Inhibits autoubiquitination of MDM2, thereby enhancing MDM2 stability. This promotes MDM2-mediated ubiquitination of p53/TP53 and its subsequent degradation.',NULL,NULL,NULL,NULL,NULL),(10621,'UniProt Function',NULL,12708,NULL,'Enhances the phosphorylation and activation of AKT1 and AKT2.',NULL,NULL,NULL,NULL,NULL),(10622,'UniProt Function',NULL,12710,NULL,'May play a role in mitochondrial aerobic respiration. May also regulate mitochondrial organization and fission (By similarity).',NULL,NULL,NULL,NULL,NULL),(10623,'UniProt Function',NULL,12711,NULL,'Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays GTPase activity. Involved in the ribosome maturation process.',NULL,NULL,NULL,NULL,NULL),(10624,'UniProt Function',NULL,12712,NULL,'May promote proliferation of pancreatic cancer cells by favoring the transition from the S to G2/M phase. In myeloid leukemic cell lines, inhibits cell growth and induces cell differentiation and apoptosis. May play a role in the inhibition of EIF4EBP1 phosphorylation/deactivation. Facilitates cell adhesion, most probably through interaction with cell surface lectins and cadherin.',NULL,NULL,NULL,NULL,NULL),(10625,'UniProt Function',NULL,12713,NULL,'Promotes formation and maturation of oligodendrocytes, especially within the brain. Cooperates with OLIG2 to establish the pMN domain of the embryonic neural tube (By similarity).',NULL,NULL,NULL,NULL,NULL),(10626,'UniProt Function',NULL,12715,NULL,'Induces expression of IL6, CXCL8/IL8, and CSF2/GM-CSF from endothelial cells.',NULL,NULL,NULL,NULL,NULL),(10627,'UniProt Function',NULL,12716,NULL,'Receptor for both interleukin 4 and interleukin 13. Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation of insulin receptor substrates, IRS1/IRS2.',NULL,NULL,NULL,NULL,NULL),(10628,'UniProt Function',NULL,12716,NULL,'Soluble IL4R (sIL4R) inhibits IL4-mediated cell proliferation and IL5 up-regulation by T-cells.',NULL,NULL,NULL,NULL,NULL),(10629,'UniProt Function',NULL,12717,NULL,'Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-Stat signaling cascade. IL23 functions in innate and adaptive immunity and may participate in acute response to infection in peripheral tissues. IL23 may be responsible for autoimmune inflammatory diseases and be important for tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(10630,'UniProt Function',NULL,12718,NULL,'Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4.',NULL,NULL,NULL,NULL,NULL),(10631,'UniProt Function',NULL,12719,NULL,'Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate.',NULL,NULL,NULL,NULL,NULL),(10632,'UniProt Function',NULL,12721,NULL,'May play roles in cilia formation and/or maintenance.',NULL,NULL,NULL,NULL,NULL),(10633,'UniProt Function',NULL,12724,NULL,'Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling.',NULL,NULL,NULL,NULL,NULL),(10634,'UniProt Function',NULL,12725,NULL,'Involved in sperm capacitation and acrosome reaction.',NULL,NULL,NULL,NULL,NULL),(10635,'UniProt Function',NULL,12729,NULL,'RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5\'-UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3\'-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA.',NULL,NULL,NULL,NULL,NULL),(10636,'UniProt Function',NULL,12730,NULL,'Is required for meiosis completion in both male and female germ cells. Confers stability to numerous meiotic mRNAs in gonads allowing proper initiation and progression into meiosis prophase I. The function may involve YTHDC2 and is independent of induction by retinoic acid (RA). Maintains an extended meiotic prophase I by properly promoting the transition from a mitotic to a meiotic cell cycle program by binding transcripts through its interaction with YTHDC2 that regulate the mitotic cell cycle.',NULL,NULL,NULL,NULL,NULL),(10637,'UniProt Function',NULL,12731,NULL,'May play a role in action potential conduction in myelinated cells through the organization of molecular complexes at nodes of Ranvier and axon initial segments (PubMed:25950943). May also play a role in axon outgrowth and guidance (By similarity).',NULL,NULL,NULL,NULL,NULL),(10638,'UniProt Function',NULL,12732,NULL,'Scaffold protein for the de novo synthesis of iron-sulfur (Fe-S) clusters within mitochondria, which is required for maturation of both mitochondrial and cytoplasmic [2Fe-2S] and [4Fe-4S] proteins (PubMed:11060020). First, a [2Fe-2S] cluster is transiently assembled on the scaffold protein ISCU. In a second step, the cluster is released from ISCU, transferred to a glutaredoxin GLRX5, followed by the formation of mitochondrial [2Fe-2S] proteins, the synthesis of [4Fe-4S] clusters and their target-specific insertion into the recipient apoproteins. Cluster assembly on ISCU depends on the function of the cysteine desulfurase complex NFS1-LYRM4/ISD11, which serves as the sulfur donor for cluster synthesis, the iron-binding protein frataxin as the putative iron donor, and the electron transfer chain comprised of ferredoxin reductase and ferredoxin, which receive their electrons from NADH (By similarity).',NULL,NULL,NULL,NULL,NULL),(10639,'UniProt Function',NULL,12733,NULL,'May be a serine protease inhibitor (By similarity). Essential for sperm maturation and fertility. Inhibits sperm acrosome reaction, protecting sperm from premature reaction (By similarity).',NULL,NULL,NULL,NULL,NULL),(10640,'UniProt Function',NULL,12734,NULL,'Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration.',NULL,NULL,NULL,NULL,NULL),(10641,'UniProt Function',NULL,12735,NULL,'Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5\'-CANNTG-3\'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5\'-ACANNTGT-3\' or 5\'-CCANNTGG-3\'.',NULL,NULL,NULL,NULL,NULL),(10642,'UniProt Function',NULL,12736,NULL,'As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose.',NULL,NULL,NULL,NULL,NULL),(10643,'UniProt Function',NULL,12738,NULL,'S-adenosyl-L-methionine-dependent methyltransferase that adds a methylphosphate cap at the 5\'-end of 7SK snRNA, leading to stabilize it.',NULL,NULL,NULL,NULL,NULL),(10644,'UniProt Function',NULL,12739,NULL,'May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes.',NULL,NULL,NULL,NULL,NULL),(10645,'UniProt Function',NULL,12740,NULL,'May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes.',NULL,NULL,NULL,NULL,NULL),(10646,'UniProt Function',NULL,12741,NULL,'Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464).',NULL,NULL,NULL,NULL,NULL),(10647,'UniProt Function',NULL,12742,NULL,'Integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin (PubMed:17545607, PubMed:17158881). It recognizes the sequence R-G-D in its ligands (PubMed:17545607, PubMed:17158881). Internalisation of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion (PubMed:17545607, PubMed:17158881). ITGAV:ITGB6 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:17158881). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447).',NULL,NULL,NULL,NULL,NULL),(10648,'UniProt Function',NULL,12742,NULL,'(Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for Coxsackievirus A9 and Coxsackievirus B1.',NULL,NULL,NULL,NULL,NULL),(10649,'UniProt Function',NULL,12742,NULL,'(Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for Herpes simplex virus-1/HHV-1 (PubMed:24367260).',NULL,NULL,NULL,NULL,NULL),(10650,'UniProt Function',NULL,12743,NULL,'Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(10651,'UniProt Function',NULL,12744,NULL,'Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:14602072, PubMed:17028573, PubMed:16387660, PubMed:18718448, PubMed:18718449, PubMed:11046148, PubMed:19592251, PubMed:19116316, PubMed:19881509, PubMed:20491914, PubMed:20392206, PubMed:20068034, PubMed:23146885, PubMed:24790097, PubMed:25631046). Catalyzes \'Lys-29\'-, \'Lys-48\'- and \'Lys-63\'-linked ubiquitin conjugation (PubMed:17028573, PubMed:18718448, PubMed:19131965, PubMed:19881509). Involved in the control of inflammatory signaling pathways (PubMed:19131965). Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, TAX1BP1 and RNF11, that ensures the transient nature of inflammatory signaling pathways (PubMed:19131965). Promotes the association of the complex after TNF stimulation (PubMed:19131965). Once the complex is formed, TNFAIP3 deubiquitinates \'Lys-63\' polyubiquitin chains on RIPK1 and catalyzes the formation of \'Lys-48\'-polyubiquitin chains (PubMed:19131965). This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NFKB1 (PubMed:19131965). Ubiquitinates RIPK2 by \'Lys-63\'-linked conjugation and influences NOD2-dependent signal transduction pathways (PubMed:19592251). Regulates the transcriptional activity of several transcription factors, and probably plays an important role in the regulation of immune response (PubMed:18718448, PubMed:20491914). Ubiquitinates NFE2 by \'Lys-63\' linkages and is implicated in the control of the development of hematopoietic lineages (PubMed:18718448). Mediates JUN ubiquitination and degradation (By similarity). Mediates JUNB ubiquitination and degradation (PubMed:16387660). Critical regulator of type 2 helper T (Th2) cell cytokine production by inducing JUNB ubiquitination and degradation (By similarity). Involved in the negative regulation of MAVS-dependent cellular antiviral responses (PubMed:19881509). Ubiquitinates MAVS through \'Lys-48\'-linked conjugation resulting in MAVS proteasomal degradation (PubMed:19881509). Following ligand stimulation, regulates sorting of Wnt receptor FZD4 to the degradative endocytic pathway probably by modulating PI42KA activity (PubMed:23146885). Ubiquitinates PI4K2A and negatively regulates its catalytic activity (PubMed:23146885). Ubiquitinates chemokine receptor CXCR4 and regulates sorting of CXCR4 to the degradative endocytic pathway following ligand stimulation by ubiquitinating endosomal sorting complex required for transport ESCRT-0 components HGS and STAM (PubMed:14602072, PubMed:23146885). Targets DTX1 for lysosomal degradation and controls NOTCH1 degradation, in the absence of ligand, through \'Lys-29\'-linked polyubiquitination (PubMed:17028573, PubMed:18628966, PubMed:23886940). Ubiquitinates SNX9 (PubMed:20491914). Ubiquitinates MAP3K7 through \'Lys-48\'-linked conjugation (By similarity). Involved in the regulation of apoptosis and reactive oxygen species levels through the ubiquitination and proteasomal degradation of TXNIP (PubMed:20068034). Mediates the antiapoptotic activity of epidermal growth factor through the ubiquitination and proteasomal degradation of p15 BID (PubMed:20392206). Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046).',NULL,NULL,NULL,NULL,NULL),(10652,'UniProt Function',NULL,12745,NULL,'Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane. Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell-surface expression of LRP4 (By similarity). May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(10653,'UniProt Function',NULL,12746,NULL,'Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo.',NULL,NULL,NULL,NULL,NULL),(10654,'UniProt Function',NULL,12747,NULL,'Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contributing to the viability and migration of neutrophils.',NULL,NULL,NULL,NULL,NULL),(10655,'UniProt Function',NULL,12748,NULL,'Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway (PubMed:7615558). Kinase partner for the interleukin (IL)-2 receptor (PubMed:11909529).',NULL,NULL,NULL,NULL,NULL),(10656,'UniProt Function',NULL,12751,NULL,'Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis. Acts by modulating histone methyltransferase activity and promoting the recruitment of histone methyltransferase complexes to their target genes. Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells. Does not have histone demethylase activity but regulates activity of various histone methyltransferase complexes. In embryonic stem cells, it associates with the PRC2 complex and inhibits trimethylation of \'Lys-27\' of histone H3 (H3K27me3) by the PRC2 complex, thereby playing a key role in differentiation of embryonic stem cells and normal development. In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of \'Lys-9\' of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases. Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5. Participates in the negative regulation of cell proliferation signaling.',NULL,NULL,NULL,NULL,NULL),(10657,'UniProt Function',NULL,12752,NULL,'Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2 (PubMed:15302918). Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity (By similarity). Also involved in transcriptional activation of NAMPT by promoting expression of PPARA and PPARD (By similarity). Plays a role in lipid metabolism by suppressing lipogenesis, increasing lipolysis and decreasing lipid accumulation in adipose tissue (By similarity). Plays a role in glucose homeostasis by improving glucose metabolism and insulin sensitivity (By similarity).',NULL,NULL,NULL,NULL,NULL),(10658,'UniProt Function',NULL,12754,NULL,'The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module (PubMed:12189133). May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). Promotes neuronal axon elongation in a kinesin- and JNK-dependent manner. Activates cofilin at axon tips via local activation of JNK, thereby regulating filopodial dynamics and enhancing axon elongation. Its binding to kinesin heavy chains (KHC), promotes kinesin-1 motility along microtubules and is essential for axon elongation and regeneration. Regulates cortical neuronal migration by mediating NTRK2/TRKB anterograde axonal transport during brain development (By similarity). Acts as an adapter that bridges the interaction between NTRK2/TRKB and KLC1 and drives NTRK2/TRKB axonal but not dendritic anterograde transport, which is essential for subsequent BDNF-triggered signaling and filopodia formation (PubMed:21775604).',NULL,NULL,NULL,NULL,NULL),(10659,'UniProt Function',NULL,12757,NULL,'Transcription factor binding AP-1 sites.',NULL,NULL,NULL,NULL,NULL),(10660,'UniProt Function',NULL,12759,NULL,'Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.',NULL,NULL,NULL,NULL,NULL),(10661,'UniProt Function',NULL,12762,NULL,'Involved in clathrin-mediated endocytosis at the synapse. Plays a role in neuronal development and in synaptic vesicle recycling in mature neurons, a process required for normal synaptic transmission.',NULL,NULL,NULL,NULL,NULL),(10662,'UniProt Function',NULL,12771,NULL,'Plays a role in the establishment of the epidermal barrier on plantar skin.',NULL,NULL,NULL,NULL,NULL),(10663,'UniProt Function',NULL,12771,NULL,'(Microbial infection) Acts as a mediator of S.aureus adherence to desquamated nasal epithelial cells via clfB, and hence may play a role in nasal colonization.',NULL,NULL,NULL,NULL,NULL),(10664,'UniProt Function',NULL,12772,NULL,'May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance of corneal epithelium integrity (By similarity).',NULL,NULL,NULL,NULL,NULL),(10665,'UniProt Function',NULL,12774,NULL,'The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.',NULL,NULL,NULL,NULL,NULL),(10666,'UniProt Function',NULL,12775,NULL,'Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair (By similarity). Required for the correct growth of hair follicles, in particular for the persistence of the anagen (growth) state (By similarity). Modulates the function of TNF-alpha in the specific context of hair cycling. Regulates protein synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR pathway (By similarity). Involved in tissue repair. May be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial \"stem cells\". Acts as a promoter of epithelial proliferation by acting a regulator of immune response in skin: promotes Th1/Th17-dominated immune environment contributing to the development of basaloid skin tumors (By similarity). May act as an autoantigen in the immunopathogenesis of psoriasis, with certain peptide regions being a major target for autoreactive T-cells and hence causing their proliferation.',NULL,NULL,NULL,NULL,NULL),(10667,'UniProt Function',NULL,12776,NULL,'Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection.',NULL,NULL,NULL,NULL,NULL),(10668,'UniProt Function',NULL,12777,NULL,'May play a role as endocytotic lectin receptor displaying calcium-dependent lectin activity. Internalizes glycosylated ligands from the extracellular space for release in an endosomal compartment via clathrin-mediated endocytosis. May be involved in plasminogen activation system controlling the extracellular level of PLAUR/PLAU, and thus may regulate protease activity at the cell surface. May contribute to cellular uptake, remodeling and degradation of extracellular collagen matrices. May play a role during cancer progression as well as in other chronic tissue destructive diseases acting on collagen turnover. May participate in remodeling of extracellular matrix cooperating with the matrix metalloproteinases (MMPs).',NULL,NULL,NULL,NULL,NULL),(10669,'UniProt Function',NULL,12778,NULL,'Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration (PubMed:15723050, PubMed:9418861, PubMed:9092543). Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715). In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). Phosphorylates: PPP1R12A, LIMK1 and LIMK2 (PubMed:11340065, PubMed:11399775). May play a role in TFRC-mediated iron uptake (PubMed:20188707). In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10670,'UniProt Function',NULL,12780,NULL,'Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3\'-5\' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547, PubMed:29670289). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888).',NULL,NULL,NULL,NULL,NULL),(10671,'UniProt Function',NULL,12781,NULL,'Maintains stem cell potency (By similarity). Increases STAT3 phosphorylation and controls ERK phosphorylation (By similarity). May act as a scaffold, increasing STAT3 recruitment onto endosomes (By similarity). Involved in integrin-mediated cancer cell adhesion and colony formation in ovarian cancer (PubMed:20515946).',NULL,NULL,NULL,NULL,NULL),(10672,'UniProt Function',NULL,12782,NULL,'Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage.',NULL,NULL,NULL,NULL,NULL),(10673,'UniProt Function',NULL,12783,NULL,'May regulate nociceptor function and/or development, including the sensation or modulation of pain. Functions as a specific membrane receptor for beta-alanine. Beta-alanine at micromolar doses specifically evoked Ca(2+) influx in cells expressing the receptor. Beta-alanine decreases forskolin-stimulated cAMP production in cells expressing the receptor, suggesting that the receptor couples with G-protein G(q) and G(i).',NULL,NULL,NULL,NULL,NULL),(10674,'UniProt Function',NULL,12784,NULL,'Orphan receptor. May regulate nociceptor function and/or development, including the sensation or modulation of pain.',NULL,NULL,NULL,NULL,NULL),(10675,'UniProt Function',NULL,12785,NULL,'Orphan receptor. May bind to a neuropeptide and may regulate nociceptor function and/or development, including the sensation or modulation of pain (By similarity).',NULL,NULL,NULL,NULL,NULL),(10676,'UniProt Function',NULL,12788,NULL,'Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate (PubMed:25869668, PubMed:7761412, PubMed:9430698). May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976).',NULL,NULL,NULL,NULL,NULL),(10677,'UniProt Function',NULL,12792,NULL,'Tooth-associated epithelia protein that probably plays a role in odontogenesis, the complex process that results in the initiation and generation of the tooth. May be incorporated in the enamel matrix at the end of mineralization process. Involved in the induction of RHOA activity via interaction with ARHGEF and expression of downstream factors such as ROCK. Plays a role in attachment of the junctional epithelium to the tooth surface.',NULL,NULL,NULL,NULL,NULL),(10678,'UniProt Function',NULL,12793,NULL,'May be an organic anion pump relevant to cellular detoxification.',NULL,NULL,NULL,NULL,NULL),(10679,'UniProt Function',NULL,12794,NULL,'May promote nucleation of hydroxyapatite.',NULL,NULL,NULL,NULL,NULL),(10680,'UniProt Function',NULL,12795,NULL,'Isoform 1: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS).',NULL,NULL,NULL,NULL,NULL),(10681,'UniProt Function',NULL,12795,NULL,'Isoform 2: Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases.',NULL,NULL,NULL,NULL,NULL),(10682,'UniProt Function',NULL,12796,NULL,'The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component.',NULL,NULL,NULL,NULL,NULL),(10683,'UniProt Function',NULL,12797,NULL,'Probable transporter.',NULL,NULL,NULL,NULL,NULL),(10684,'UniProt Function',NULL,12798,NULL,'The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).',NULL,NULL,NULL,NULL,NULL),(10685,'UniProt Function',NULL,12799,NULL,'Catalytic ribonuclease component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and MRPP3, which cleaves tRNA molecules in their 5\'-ends (PubMed:18984158, PubMed:25953853). The presence of TRMT10C/MRPP1, HSD17B10/MRPP2 is required to catalyze tRNA molecules in their 5\'-ends (PubMed:25953853).',NULL,NULL,NULL,NULL,NULL),(10686,'UniProt Function',NULL,12801,NULL,'Component of the ribosome assembly machinery. Nuclear paralog of the ribosomal protein P0, it binds pre-60S subunits at an early stage of assembly in the nucleolus, and is replaced by P0 in cytoplasmic pre-60S subunits and mature 80S ribosomes.',NULL,NULL,NULL,NULL,NULL),(10687,'UniProt Function',NULL,12802,NULL,'Outer dense fibers are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail. May help to maintain the passive elastic structures and elastic recoil of the sperm tail.',NULL,NULL,NULL,NULL,NULL),(10688,'UniProt Function',NULL,12803,NULL,'Acts as a transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation.',NULL,NULL,NULL,NULL,NULL),(10689,'UniProt Function',NULL,12804,NULL,'May play a role in cell proliferation.',NULL,NULL,NULL,NULL,NULL),(10690,'UniProt Function',NULL,12805,NULL,'Plays a role as NO/PRKG1-dependent regulator of IP3-induced calcium release; its phosphorylation by PRKG1 inhibits bradykinin and IP3-induced calcium release from intracellular stores. Recruits PRKG1 to the endoplasmic reticulum and may mediate the assembly of PRKG1 and ITPR1 in a macrocomplex. Involved in PRKG1 signaling cascade leading to inhibition of platelet activation and aggregation. Mediates also NO-dependent inhibition of calcium signaling in gastrointestinal smooth muscle contributing to NO-dependent relaxation.',NULL,NULL,NULL,NULL,NULL),(10691,'UniProt Function',NULL,12806,NULL,'Component of the outer dense fibers (ODF) of spermatozoa which could be involved in sperm tail structure, sperm movement and general organization of cellular cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(10692,'UniProt Function',NULL,12807,NULL,'2-oxoglutarate dehydrogenase (E1) component of the 2-oxoglutarate dehydrogenase complex, which mediates the decarboxylation of alpha-ketoglutarate (PubMed:24495017). The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2) (PubMed:24495017). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711).',NULL,NULL,NULL,NULL,NULL),(10693,'UniProt Function',NULL,12809,NULL,'Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex (By similarity). The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2) (By similarity). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711).',NULL,NULL,NULL,NULL,NULL),(10694,'UniProt Function',NULL,12810,NULL,'Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis.',NULL,NULL,NULL,NULL,NULL),(10695,'UniProt Function',NULL,12811,NULL,'Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(10696,'UniProt Function',NULL,12812,NULL,'The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.',NULL,NULL,NULL,NULL,NULL),(10697,'UniProt Function',NULL,12813,NULL,'RNA binding protein that regulates the expression of target mRNAs at the translation level. Regulates expression of the NOTCH1 antagonist NUMB. Binds RNA containing the sequence 5\'-GUUAGUUAGUUAGUU-3\' and other sequences containing the pattern 5\'-[GA]U(1-3)AGU-3\'. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity).',NULL,NULL,NULL,NULL,NULL),(10698,'UniProt Function',NULL,12815,NULL,'Component of histone acetyltransferase complex responsible for the majority of histone H4 acetylation at \'Lys-16\' (H4K16ac) which is implicated in the formation of higher-order chromatin structure. Greatly enhances MSL2 E3 ubiquitin ligase activity, promoting monoubiquitination of histone H2B at \'Lys-34\' (H2BK34Ub). This modification in turn stimulates histone H3 methylation at \'Lys-4\' (H3K4me) and \'Lys-79\' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1. In the MSL complex, acts as a scaffold to tether MSL3 and KAT8 together for enzymatic activity regulation.',NULL,NULL,NULL,NULL,NULL),(10699,'UniProt Function',NULL,12816,NULL,'Catalyzes the first step in the removal of the two C-4 methyl groups of 4,4-dimethylzymosterol.',NULL,NULL,NULL,NULL,NULL),(10700,'UniProt Function',NULL,12817,NULL,'Component of histone acetyltransferase complex responsible for the majority of histone H4 acetylation at lysine 16 which is implicated in the formation of higher-order chromatin structure. Acts as an E3 ubiquitin ligase that promotes monoubiquitination of histone H2B at \'Lys-35\' (H2BK34Ub), but not that of H2A. This activity is greatly enhanced by heterodimerization with MSL1. H2B ubiquitination in turn stimulates histine H3 methylation at \'Lys-4\' (H3K4me) and \'Lys-79\' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1.',NULL,NULL,NULL,NULL,NULL),(10701,'UniProt Function',NULL,12819,NULL,'May play a role in cellular adhesion.',NULL,NULL,NULL,NULL,NULL),(10702,'UniProt Function',NULL,12820,NULL,'Plays a role in differentiation and/or proliferation of mesenchymal stem cells. Proposed to be involved in epithelial-to-mesenchymal transition (EMT). However, another study suggests that it is not required for EMT or stem cell self-renewal and acts during later stages of differentiation.',NULL,NULL,NULL,NULL,NULL),(10703,'UniProt Function',NULL,12822,NULL,'Has an important function as a repair enzyme for proteins that have been inactivated by oxidation. Catalyzes the reversible oxidation-reduction of methionine sulfoxide in proteins to methionine.',NULL,NULL,NULL,NULL,NULL),(10704,'UniProt Function',NULL,12823,NULL,'May play a role in the trafficking of a subset of G-protein coupled receptors.',NULL,NULL,NULL,NULL,NULL),(10705,'UniProt Function',NULL,12825,NULL,'Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10706,'UniProt Function',NULL,12826,NULL,'Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity.',NULL,NULL,NULL,NULL,NULL),(10707,'UniProt Function',NULL,12827,NULL,'Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter.',NULL,NULL,NULL,NULL,NULL),(10708,'UniProt Function',NULL,12828,NULL,'Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.',NULL,NULL,NULL,NULL,NULL),(10709,'UniProt Function',NULL,12829,NULL,'Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.',NULL,NULL,NULL,NULL,NULL),(10710,'UniProt Function',NULL,12831,NULL,'Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors and plays an important role in the regulation of innate and adaptive immune responses, hematopoiesis, responses to growth factors and cytokines, integrin signaling, but also responses to DNA damage and genotoxic agents. Functions primarily as negative regulator, but can also function as activator, depending on the context. Required for the initiation of the B-cell response, but also for its down-regulation and termination. Plays an important role in the regulation of B-cell differentiation, proliferation, survival and apoptosis, and is important for immune self-tolerance. Acts downstream of several immune receptors, including the B-cell receptor, CD79A, CD79B, CD5, CD19, CD22, FCER1, FCGR2, FCGR1A, TLR2 and TLR4. Plays a role in the inflammatory response to bacterial lipopolysaccharide. Mediates the responses to cytokines and growth factors in hematopoietic progenitors, platelets, erythrocytes, and in mature myeloid cells, such as dendritic cells, neutrophils and eosinophils. Acts downstream of EPOR, KIT, MPL, the chemokine receptor CXCR4, as well as the receptors for IL3, IL5 and CSF2. Plays an important role in integrin signaling. Regulates cell proliferation, survival, differentiation, migration, adhesion, degranulation, and cytokine release. Down-regulates signaling pathways by phosphorylation of immunoreceptor tyrosine-based inhibitory motifs (ITIM), that then serve as binding sites for phosphatases, such as PTPN6/SHP-1, PTPN11/SHP-2 and INPP5D/SHIP-1, that modulate signaling by dephosphorylation of kinases and their substrates. Phosphorylates LIME1 in response to CD22 activation. Phosphorylates BTK, CBL, CD5, CD19, CD72, CD79A, CD79B, CSF2RB, DOK1, HCLS1, LILRB3/PIR-B, MS4A2/FCER1B, SYK and TEC. Promotes phosphorylation of SIRPA, PTPN6/SHP-1, PTPN11/SHP-2 and INPP5D/SHIP-1. Mediates phosphorylation of the BCR-ABL fusion protein. Required for rapid phosphorylation of FER in response to FCER1 activation. Mediates KIT phosphorylation. Acts as an effector of EPOR (erythropoietin receptor) in controlling KIT expression and may play a role in erythroid differentiation during the switch between proliferation and maturation. Depending on the context, activates or inhibits several signaling cascades. Regulates phosphatidylinositol 3-kinase activity and AKT1 activation. Regulates activation of the MAP kinase signaling cascade, including activation of MAP2K1/MEK1, MAPK1/ERK2, MAPK3/ERK1, MAPK8/JNK1 and MAPK9/JNK2. Mediates activation of STAT5A and/or STAT5B. Phosphorylates LPXN on \'Tyr-72\'. Kinase activity facilitates TLR4-TLR6 heterodimerization and signal initiation.',NULL,NULL,NULL,NULL,NULL),(10711,'UniProt Function',NULL,12832,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(10712,'UniProt Function',NULL,12833,NULL,'Hardly reversible, non-competitive, and potent inhibitor of CPA1, CPA2 and CPA4. May play a role in inflammation.',NULL,NULL,NULL,NULL,NULL),(10713,'UniProt Function',NULL,12835,NULL,'Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. May participate in adhesion reactions between T lymphocytes and accessory cells by homophilic interaction. Promotes T-cell differentiation into a helper T-cell Th17 phenotype leading to increased IL-17 secretion; the costimulatory activity requires SH2D1A (PubMed:22184727). Promotes recruitment of RORC to the IL-17 promoter (PubMed:22989874). May be involved in the maintenance of peripheral cell tolerance by serving as a negative regulator of the immune response. May disable autoantibody responses and inhibit IFN-gamma secretion by CD4(+) T-cells. May negatively regulate the size of thymic innate CD8(+) T-cells and the development of invariant natural killer T (iNKT) cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(10714,'UniProt Function',NULL,12836,NULL,'Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function.',NULL,NULL,NULL,NULL,NULL),(10715,'UniProt Function',NULL,12837,NULL,'May be involved in signal transduction as a component of a multimeric receptor complex.',NULL,NULL,NULL,NULL,NULL),(10716,'UniProt Function',NULL,12838,NULL,'May be involved in signal transduction as a component of a multimeric receptor complex.',NULL,NULL,NULL,NULL,NULL),(10717,'UniProt Function',NULL,12840,NULL,'May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex.',NULL,NULL,NULL,NULL,NULL),(10718,'UniProt Function',NULL,12841,NULL,'Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signaling for determination of cell fate such as differentiation and survival. Plays a crucial role in the apoptosis signal transduction pathway through mitochondria-dependent caspase activation. MAP3K5/ASK1 is required for the innate immune response, which is essential for host defense against a wide range of pathogens. Mediates signal transduction of various stressors like oxidative stress as well as by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF) or lipopolysaccharide (LPS). Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade and the p38 MAPK signal transduction cascade through the phosphorylation and activation of several MAP kinase kinases like MAP2K4/SEK1, MAP2K3/MKK3, MAP2K6/MKK6 and MAP2K7/MKK7. These MAP2Ks in turn activate p38 MAPKs and c-jun N-terminal kinases (JNKs). Both p38 MAPK and JNKs control the transcription factors activator protein-1 (AP-1).',NULL,NULL,NULL,NULL,NULL),(10719,'UniProt Function',NULL,12844,NULL,'Microtubule-associated protein (MAP) that plays a role in the regulation of cell division; promotes microtubule stability and participates in the organization of the spindle midzone and normal progress of cytokinesis.',NULL,NULL,NULL,NULL,NULL),(10720,'UniProt Function',NULL,12845,NULL,'Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase. Required for expression of anticipatory patterns of activity and wakefulness during periods of limited nutrient availability and for the normal regulation of circadian clock activity in the brain.',NULL,NULL,NULL,NULL,NULL),(10721,'UniProt Function',NULL,12849,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(10722,'UniProt Function',NULL,12850,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(10723,'UniProt Function',NULL,12851,NULL,'May play a role in mRNA degradation.',NULL,NULL,NULL,NULL,NULL),(10724,'UniProt Function',NULL,12852,NULL,'Protein N-lysine methyltransferase. In vitro methylates KIN.',NULL,NULL,NULL,NULL,NULL),(10725,'UniProt Function',NULL,12853,NULL,'Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy. Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18-mediated inflammation (PubMed:16785446, PubMed:17431422, PubMed:26347139). However, it may also have a positive effect in the inflammatory pathway. In different experimental systems, it has been shown to activate IL1B production (PubMed:16037825). It has also been shown to be required for PSTPIP1-induced PYCARD oligomerization and for formation of inflammasomes. Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923).',NULL,NULL,NULL,NULL,NULL),(10726,'UniProt Function',NULL,12854,NULL,'Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity).',NULL,NULL,NULL,NULL,NULL),(10727,'UniProt Function',NULL,12855,NULL,'Acts as a transcriptional regulator. Acts as a negative regulator of receptor-dependent signaling pathways. Specifically inhibits transactivation of the nuclear receptor with whom it interacts. Inhibits transcriptional activity of NEUROD1 on E-box-containing promoter by interfering with the coactivation function of the p300/CBP-mediated transcription complex for NEUROD1.',NULL,NULL,NULL,NULL,NULL),(10728,'UniProt Function',NULL,12856,NULL,'Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components ARTNL/BMAL1, CLOCK and CRY1. Also regulates genes involved in metabolic functions, including lipid and bile acid metabolism, adipogenesis, gluconeogenesis and the macrophage inflammatory response. Acts as a receptor for heme which stimulates its interaction with the NCOR1/HDAC3 corepressor complex, enhancing transcriptional repression. Recognizes two classes of DNA response elements within the promoter of its target genes and can bind to DNA as either monomers or homodimers, depending on the nature of the response element. Binds as a monomer to a response element composed of the consensus half-site motif 5\'-[A/G]GGTCA-3\' preceded by an A/T-rich 5\' sequence (RevRE), or as a homodimer to a direct repeat of the core motif spaced by two nucleotides (RevDR-2). Acts as a potent competitive repressor of ROR alpha (RORA) function and regulates the levels of its ligand heme by repressing the expression of PPARGC1A, a potent inducer of heme synthesis. Regulates lipid metabolism by repressing the expression of APOC3 and by influencing the activity of sterol response element binding proteins (SREBPs); represses INSIG2 which interferes with the proteolytic activation of SREBPs which in turn govern the rhythmic expression of enzymes with key functions in sterol and fatty acid synthesis. Regulates gluconeogenesis via repression of G6PC and PEPCK and adipocyte differentiation via repression of PPARG. Regulates glucagon release in pancreatic alpha-cells via the AMPK-NAMPT-SIRT1 pathway and the proliferation, glucose-induced insulin secretion and expression of key lipogenic genes in pancreatic-beta cells. Positively regulates bile acid synthesis by increasing hepatic expression of CYP7A1 via repression of NR0B2 and NFIL3 which are negative regulators of CYP7A1. Modulates skeletal muscle oxidative capacity by regulating mitochondrial biogenesis and autophagy; controls mitochondrial biogenesis and respiration by interfering with the STK11-PRKAA1/2-SIRT1-PPARGC1A signaling pathway. Represses the expression of SERPINE1/PAI1, an important modulator of cardiovascular disease and the expression of inflammatory cytokines and chemokines in macrophages. Represses gene expression at a distance in macrophages by inhibiting the transcription of enhancer-derived RNAs (eRNAs). Plays a role in the circadian regulation of body temperature and negatively regulates thermogenic transcriptional programs in brown adipose tissue (BAT); imposes a circadian oscillation in BAT activity, increasing body temperature when awake and depressing thermogenesis during sleep. In concert with NR2E3, regulates transcriptional networks critical for photoreceptor development and function. In addition to its activity as a repressor, can also act as a transcriptional activator. In the ovarian granulosa cells acts as a transcriptional activator of STAR which plays a role in steroid biosynthesis. In collaboration with SP1, activates GJA1 transcription in a heme-independent manner.',NULL,NULL,NULL,NULL,NULL),(10729,'UniProt Function',NULL,12857,NULL,'Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components ARNTL/BMAL1 and CLOCK. Also regulates genes involved in metabolic functions, including lipid metabolism and the inflammatory response. Acts as a receptor for heme which stimulates its interaction with the NCOR1/HDAC3 corepressor complex, enhancing transcriptional repression. Recognizes two classes of DNA response elements within the promoter of its target genes and can bind to DNA as either monomers or homodimers, depending on the nature of the response element. Binds as a monomer to a response element composed of the consensus half-site motif 5\'-[A/G]GGTCA-3\' preceded by an A/T-rich 5\' sequence (RevRE), or as a homodimer to a direct repeat of the core motif spaced by two nuclegotides (RevDR-2). Acts as a potent competitive repressor of ROR alpha (RORA) function and also negatively regulates the expression of NR1D1. Regulates lipid and energy homeostasis in the skeletal muscle via repression of genes involved in lipid metabolism and myogenesis including: CD36, FABP3, FABP4, UCP3, SCD1 and MSTN. Regulates hepatic lipid metabolism via the repression of APOC3. Represses gene expression at a distance in macrophages by inhibiting the transcription of enhancer-derived RNAs (eRNAs). In addition to its activity as a repressor, can also act as a transcriptional activator. Acts as a transcriptional activator of the sterol regulatory element-binding protein 1 (SREBF1) and the inflammatory mediator interleukin-6 (IL6) in the skeletal muscle.',NULL,NULL,NULL,NULL,NULL),(10730,'UniProt Function',NULL,12858,NULL,'Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920). Binds preferentially to double-stranded oligonucleotide direct repeats having the consensus half-site sequence 5\'-AGGTCA-3\' and 4-nt spacing (DR-4). Regulates cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8; DLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957).',NULL,NULL,NULL,NULL,NULL),(10731,'UniProt Function',NULL,12859,NULL,'Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:19481530, PubMed:25661920). Interaction with retinoic acid receptor (RXR) shifts RXR from its role as a silent DNA-binding partner to an active ligand-binding subunit in mediating retinoid responses through target genes defined by LXRES (By similarity). LXRES are DR4-type response elements characterized by direct repeats of two similar hexanuclotide half-sites spaced by four nucleotides (By similarity). Plays an important role in the regulation of cholesterol homeostasis, regulating cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8 (PubMed:19481530). Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity).',NULL,NULL,NULL,NULL,NULL),(10732,'UniProt Function',NULL,12860,NULL,'Ligand-activated transcription factor. Receptor for bile acids (BAs) such as chenodeoxycholic acid (CDCA), lithocholic acid, deoxycholic acid (DCA) and allocholic acid (ACA). Plays a essential role in BA homeostasis through the regulation of genes involved in BA synthesis, conjugation and enterohepatic circulation. Also regulates lipid and glucose homeostasis and is involved innate immune response (PubMed:10334992, PubMed:10334993, PubMed:21383957, PubMed:22820415). The FXR-RXR heterodimer binds predominantly to farnesoid X receptor response elements (FXREs) containing two inverted repeats of the consensus sequence 5\'-AGGTCA-3\' in which the monomers are spaced by 1 nucleotide (IR-1) but also to tandem repeat DR1 sites with lower affinity, and can be activated by either FXR or RXR-specific ligands. It is proposed that monomeric nuclear receptors such as NR5A2/LRH-1 bound to coregulatory nuclear responsive element (NRE) halfsites located in close proximity to FXREs modulate transcriptional activity (By similarity). In the liver activates transcription of the corepressor NR0B2 thereby indirectly inhibiting CYP7A1 and CYP8B1 (involved in BA synthesis) implicating at least in part histone demethylase KDM1A resulting in epigenomic repression, and SLC10A1/NTCP (involved in hepatic uptake of conjugated BAs). Activates transcription of the repressor MAFG (involved in regulation of BA synthesis) (By similarity). Activates transcription of SLC27A5/BACS and BAAT (involved in BA conjugation), ABCB11/BSEP (involved in bile salt export) by directly recruiting histone methyltransferase CARM1, and ABCC2/MRP2 (involved in secretion of conjugated BAs) and ABCB4 (involved in secretion of phosphatidylcholine in the small intestine) (PubMed:12754200, PubMed:15471871, PubMed:17895379). Activates transcription of SLC27A5/BACS and BAAT (involved in BA conjugation), ABCB11/BSEP (involved in bile salt export) by directly recruiting histone methyltransferase CARM1, and ABCC2/MRP2 (involved in secretion of conjugated BAs) and ABCB4 (involved in secretion of phosphatidylcholine in the small intestine) (PubMed:10514450, PubMed:15239098, PubMed:16269519). In the intestine activates FGF19 expression and secretion leading to hepatic CYP7A1 repression (PubMed:12815072, PubMed:19085950). The function also involves the coordinated induction of hepatic KLB/beta-klotho expression (By similarity). Regulates transcription of liver UGT2B4 and SULT2A1 involved in BA detoxification; binding to the UGT2B4 promoter seems to imply a monomeric transactivation independent of RXRA (PubMed:12806625, PubMed:16946559). Modulates lipid homeostasis by activating liver NR0B2/SHP-mediated repression of SREBF1 (involved in de novo lipogenesis), expression of PLTP (involved in HDL formation), SCARB1 (involved in HDL hepatic uptake), APOE, APOC1, APOC4, PPARA (involved in beta-oxidation of fatty acids), VLDLR and SDC1 (involved in the hepatic uptake of LDL and IDL remnants), and inhibiting expression of MTTP (involved in VLDL assembly (PubMed:12660231, PubMed:12554753, PubMed:15337761). Increases expression of APOC2 (promoting lipoprotein lipase activity implicated in triglyceride clearance) (PubMed:11579204). Transrepresses APOA1 involving a monomeric competition with NR2A1 for binding to a DR1 element (PubMed:11927623, PubMed:21804189). Also reduces triglyceride clearance by inhibiting expression of ANGPTL3 and APOC3 (both involved in inhibition of lipoprotein lipase) (PubMed:12891557). Involved in glucose homeostasis by modulating hepatic gluconeogenesis through activation of NR0B2/SHP-mediated repression of respective genes. Modulates glycogen synthesis (inducing phosphorylation of glycogen synthase kinase-3) (By similarity). Modulates glucose-stimulated insulin secretion and is involved in insulin resistance (PubMed:20447400). Involved in intestinal innate immunity. Plays a role in protecting the distal small intestine against bacterial overgrowth and preservation of the epithelial barrier (By similarity). Down-regulates inflammatory cytokine expression in several types of immune cells including macrophages and mononuclear cells (PubMed:21242261). Mediates trans-repression of TLR4-induced cytokine expression; the function seems to require its sumoylation and prevents N-CoR nuclear receptor corepressor clearance from target genes such as IL1B and NOS2 (PubMed:19864602). Involved in the TLR9-mediated protective mechanism in intestinal inflammation. Plays an anti-inflammatory role in liver inflammation; proposed to inhibit proinflammatory (but not antiapoptotic) NF-kappa-B signaling) (By similarity).',NULL,NULL,NULL,NULL,NULL),(10733,'UniProt Function',NULL,12860,NULL,'Isoform 1: Promotes transcriptional activation of target genes NR0B2/SHP (inducible by unconjugated CDCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; low activity for ABCB11/BSEP (inducible by unconjugated CDCA, DCA and ACA); not inducible by taurine- and glycine-amidated CDCA.',NULL,NULL,NULL,NULL,NULL),(10734,'UniProt Function',NULL,12860,NULL,'Isoform 2: Promotes transcriptional activation of target genes ABCB11/BSEP (inducible by unconjugated CDCA, DCA and ACA), NR0B2/SHP (inducible by unconjugated CDCA DCA and ACA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; not inducible by taurine- and glycine-amidated CDCA.',NULL,NULL,NULL,NULL,NULL),(10735,'UniProt Function',NULL,12860,NULL,'Isoform 3: Promotes transcriptional activation of target genes NR0B2/SHP (inducible by unconjugated CDCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and IBAP; low activity for ABCB11/BSEP (inducible by unconjugated CDCA, DCA and ACA); not inducible by taurine- and glycine-amidated CDCA.',NULL,NULL,NULL,NULL,NULL),(10736,'UniProt Function',NULL,12860,NULL,'Isoform 4: Promotes transcriptional activation of target genes ABCB11/BSEP (inducible by unconjugated CDCA, ACA and DCA), NR0B2/SHP (inducible by unconjugated CDCA, ACA and DCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; most efficient isoform compared to isoforms 1 to 3; not inducible by taurine- and glycine-amidated CDCA.',NULL,NULL,NULL,NULL,NULL),(10737,'UniProt Function',NULL,12861,NULL,'Nuclear receptor that binds and is activated by variety of endogenous and xenobiotic compounds. Transcription factor that activates the transcription of multiple genes involved in the metabolism and secretion of potentially harmful xenobiotics, drugs and endogenous compounds. Activated by the antibiotic rifampicin and various plant metabolites, such as hyperforin, guggulipid, colupulone, and isoflavones. Response to specific ligands is species-specific. Activated by naturally occurring steroids, such as pregnenolone and progesterone. Binds to a response element in the promoters of the CYP3A4 and ABCB1/MDR1 genes.',NULL,NULL,NULL,NULL,NULL),(10738,'UniProt Function',NULL,12862,NULL,'Binds and transactivates the retinoic acid response elements that control expression of the retinoic acid receptor beta 2 and alcohol dehydrogenase 3 genes. Transactivates both the phenobarbital responsive element module of the human CYP2B6 gene and the CYP3A4 xenobiotic response element.',NULL,NULL,NULL,NULL,NULL),(10739,'UniProt Function',NULL,12863,NULL,'Orphan nuclear receptor that can act as a repressor or activator of transcription. An important repressor of nuclear receptor signaling pathways such as retinoic acid receptor, retinoid X, vitamin D3 receptor, thyroid hormone receptor and estrogen receptor pathways. May regulate gene expression during the late phase of spermatogenesis. Together with NR2C1, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription including that of GATA1. Binds to hormone response elements (HREs) consisting of two 5\'-AGGTCA-3\' half site direct repeat consensus sequences. Plays a fundamental role in early embryonic development and embryonic stem cells. Required for normal spermatogenesis and cerebellum development. Appears to be important for neurodevelopmentally regulated behavior (By similarity). Activates transcriptional activity of LHCG. Antagonist of PPARA-mediated transactivation.',NULL,NULL,NULL,NULL,NULL),(10740,'UniProt Function',NULL,12864,NULL,'May act as a repressor of NR2C2-mediated transactivation by suppressing the binding between NR2C2/TR4 and the TR4-response element in target genes.',NULL,NULL,NULL,NULL,NULL),(10741,'UniProt Function',NULL,12865,NULL,'Orphan nuclear receptor. May act concomitantly with NURR1 in regulating the expression of delayed-early genes during liver regeneration. Binds the NGFI-B response element (NBRE) 5\'-AAAAGGTCA-3\' (By similarity). May inhibit NF-kappa-B transactivation of IL2. Participates in energy homeostasis by sequestrating the kinase STK11 in the nucleus, thereby attenuating cytoplasmic AMPK activation. Plays a role in the vascular response to injury (By similarity).',NULL,NULL,NULL,NULL,NULL),(10742,'UniProt Function',NULL,12866,NULL,'Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. It is crucial for expression of a set of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(10743,'UniProt Function',NULL,12868,NULL,'Divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Macrophage-specific membrane transport function. Controls natural resistance to infection with intracellular parasites. Pathogen resistance involves sequestration of Fe(2+) and Mn(2+), cofactors of both prokaryotic and eukaryotic catalases and superoxide dismutases, not only to protect the macrophage against its own generation of reactive oxygen species, but to deny the cations to the pathogen for synthesis of its protective enzymes.',NULL,NULL,NULL,NULL,NULL),(10744,'UniProt Function',NULL,12869,NULL,'May be a carrier that transport small solutes by using chemiosmotic ion gradients.',NULL,NULL,NULL,NULL,NULL),(10745,'UniProt Function',NULL,12871,NULL,'May regulate apoptosis of neural progenitor cells during their differentiation.',NULL,NULL,NULL,NULL,NULL),(10746,'UniProt Function',NULL,12872,NULL,'May play a role in subcellular trafficking between the endoplasmic reticulum and Golgi apparatus through interactions with the Rho-type GTPases. Binding to the NS3 protein of dengue virus type 2 appears to subvert this activity into the alteration of the intracellular membrane structure associated with flaviviral replication.',NULL,NULL,NULL,NULL,NULL),(10747,'UniProt Function',NULL,12874,NULL,'Involved in the export of mRNA from the nucleus to the cytoplasm.',NULL,NULL,NULL,NULL,NULL),(10748,'UniProt Function',NULL,12875,NULL,'May play a role in neuronal cell development.',NULL,NULL,NULL,NULL,NULL),(10749,'UniProt Function',NULL,12877,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10750,'UniProt Function',NULL,12878,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10751,'UniProt Function',NULL,12879,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10752,'UniProt Function',NULL,12880,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10753,'UniProt Function',NULL,12881,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10754,'UniProt Function',NULL,12882,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10755,'UniProt Function',NULL,12883,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10756,'UniProt Function',NULL,12884,NULL,'Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5\'-GTP to cyclic pyranopterin monophosphate (cPMP). MOCS1A catalyzes the cyclization of GTP to (8S)-3\',8-cyclo-7,8-dihydroguanosine 5\'-triphosphate and MOCS1B catalyzes the subsequent conversion of (8S)-3\',8-cyclo-7,8-dihydroguanosine 5\'-triphosphate to cPMP.',NULL,NULL,NULL,NULL,NULL),(10757,'UniProt Function',NULL,12885,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10758,'UniProt Function',NULL,12886,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10759,'UniProt Function',NULL,12887,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10760,'UniProt Function',NULL,12888,NULL,'Plays an important role in the regulation of interdigestive gastrointestinal motility and indirectly causes rhythmic contraction of duodenal and colonic smooth muscle.',NULL,NULL,NULL,NULL,NULL),(10761,'UniProt Function',NULL,12889,NULL,'Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(10762,'UniProt Function',NULL,12890,NULL,'Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(10763,'UniProt Function',NULL,12891,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10764,'UniProt Function',NULL,12892,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10765,'UniProt Function',NULL,12893,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10766,'UniProt Function',NULL,12894,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10767,'UniProt Function',NULL,12896,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10768,'UniProt Function',NULL,12897,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10769,'UniProt Function',NULL,12898,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10770,'UniProt Function',NULL,12899,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10771,'UniProt Function',NULL,12900,NULL,'Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K7/MKK7, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylation site in the Thr-Pro-Tyr motif. MAP2K4 shows preference for phosphorylation of the Tyr residue and MAP2K7/MKK7 for the Thr residue. The phosphorylation of the Thr residue by MAP2K7/MKK7 seems to be the prerequisite for JNK activation at least in response to proinflammatory cytokines, while other stimuli activate both MAP2K4/MKK4 and MAP2K7/MKK7 which synergistically phosphorylate JNKs. MAP2K4 is required for maintaining peripheral lymphoid homeostasis. The MKK/JNK signaling pathway is also involved in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis. Whereas MAP2K7/MKK7 exclusively activates JNKs, MAP2K4/MKK4 additionally activates the p38 MAPKs MAPK11, MAPK12, MAPK13 and MAPK14.',NULL,NULL,NULL,NULL,NULL),(10772,'UniProt Function',NULL,12901,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10773,'UniProt Function',NULL,12902,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10774,'UniProt Function',NULL,12903,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10775,'UniProt Function',NULL,12904,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10776,'UniProt Function',NULL,12905,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10777,'UniProt Function',NULL,12906,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10778,'UniProt Function',NULL,12907,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10779,'UniProt Function',NULL,12908,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10780,'UniProt Function',NULL,12909,NULL,'Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP).',NULL,NULL,NULL,NULL,NULL),(10781,'UniProt Function',NULL,12910,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10782,'UniProt Function',NULL,12911,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10783,'UniProt Function',NULL,12912,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10784,'UniProt Function',NULL,12913,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10785,'UniProt Function',NULL,12914,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10786,'UniProt Function',NULL,12915,NULL,'Interacts with HTR2C and provokes its clustering at the cell surface (By similarity). Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses.',NULL,NULL,NULL,NULL,NULL),(10787,'UniProt Function',NULL,12916,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10788,'UniProt Function',NULL,12917,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10789,'UniProt Function',NULL,12918,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10790,'UniProt Function',NULL,12919,NULL,'Odorant receptor involved in the detection of muscone, cyclopentadecanone, cyclopentadecanol, and omega-pentadecalactone (PubMed:24361078, PubMed:25901328). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (Probable).',NULL,NULL,NULL,NULL,NULL),(10791,'UniProt Function',NULL,12920,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10792,'UniProt Function',NULL,12921,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(10793,'UniProt Function',NULL,12923,NULL,'May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis.',NULL,NULL,NULL,NULL,NULL),(10794,'UniProt Function',NULL,12924,NULL,'Postsynaptic MAGUK scaffold protein that links CADM1 cell adhesion molecules to core components of the postsynaptic density (By similarity). In CA1 pyramidal neurons, required for synaptic KCNN2-containing channel function and long-term potentiation expression (By similarity). Seems to negatively regulate SRC function in epithelial cells (PubMed:19665017).',NULL,NULL,NULL,NULL,NULL),(10795,'UniProt Function',NULL,12926,NULL,'Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes higher oligomers of 2\'-5\'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication. Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. The secreted form displays antiviral effect against vesicular stomatitis virus (VSV), herpes simplex virus type 2 (HSV-2), and encephalomyocarditis virus (EMCV) and stimulates the alternative antiviral pathway independent of RNase L.',NULL,NULL,NULL,NULL,NULL),(10796,'UniProt Function',NULL,12927,NULL,'Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes preferentially dimers of 2\'-5\'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication. Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. Displays antiviral activity against Chikungunya virus (CHIKV), Dengue virus, Sindbis virus (SINV) and Semliki forest virus (SFV).',NULL,NULL,NULL,NULL,NULL),(10797,'UniProt Function',NULL,12928,NULL,'Cell surface receptor, which is involved in signal transduction processes. Recruits PTPN11/SHP-2 to the cell membrane and is a putative substrate of PTPN11/SHP-2. Is a major receptor for concanavalin-A (ConA) and is involved in cellular signaling induced by ConA, which probably includes Src family tyrosine-protein kinases. Isoform 3 seems to have a dominant negative role; it blocks tyrosine phosphorylation of MPZL1 induced by ConA. Isoform 1, but not isoform 2 and isoform 3, may be involved in regulation of integrin-mediated cell motility.',NULL,NULL,NULL,NULL,NULL),(10798,'UniProt Function',NULL,12929,NULL,'Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimer, and targets the monomers for ubiquitin-independent proteolytic destruction by the 26S proteasome (PubMed:17900240, PubMed:26305948, PubMed:26443277). Triggers ODC degradation by inducing the exposure of a cryptic proteasome-interacting surface of ODC (PubMed:26305948). Stabilizes AZIN2 by interfering with its ubiquitination (PubMed:17900240). Also inhibits cellular uptake of polyamines by inactivating the polyamine uptake transporter. SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. Involved in the translocation of AZIN2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol (PubMed:12097147).',NULL,NULL,NULL,NULL,NULL),(10799,'UniProt Function',NULL,12930,NULL,'Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimers. Does not target the ODC monomers for degradation, which allows a protein synthesis-independent restoration of ODC activity (PubMed:17900240). Involved in the translocation of AZIN2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol (By similarity).',NULL,NULL,NULL,NULL,NULL),(10800,'UniProt Function',NULL,12931,NULL,'Modulator of melanocortin receptor 4 (MC4R), a receptor involved in energy homeostasis. Plays a central role in the control of energy homeostasis and body weight regulation by increasing ligand-sensitivity of MC4R and MC4R-mediated generation of cAMP (By similarity). May also act as a negative regulator of MC2R: competes with MRAP for binding to MC2R and impairs the binding of corticotropin (ACTH) to MC2R. May also regulate activity of other melanocortin receptors (MC1R, MC3R and MC5R); however, additional evidences are required in vivo.',NULL,NULL,NULL,NULL,NULL),(10801,'UniProt Function',NULL,12932,NULL,'Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells.',NULL,NULL,NULL,NULL,NULL),(10802,'UniProt Function',NULL,12934,NULL,'Probably binds and transports small hydrophobic volatile molecules with a higher affinity for aldehydes and large fatty acids.',NULL,NULL,NULL,NULL,NULL),(10803,'UniProt Function',NULL,12935,NULL,'Probably binds and transports small hydrophobic volatile molecules.',NULL,NULL,NULL,NULL,NULL),(10804,'UniProt Function',NULL,12936,NULL,'Mediates the endocytosis of glycoproteins by macrophages. Binds both sulfated and non-sulfated polysaccharide chains.',NULL,NULL,NULL,NULL,NULL),(10805,'UniProt Function',NULL,12936,NULL,'(Microbial infection) Acts as phagocytic receptor for bacteria, fungi and other pathogens.',NULL,NULL,NULL,NULL,NULL),(10806,'UniProt Function',NULL,12936,NULL,'(Microbial infection) Acts as a receptor for Dengue virus envelope protein E.',NULL,NULL,NULL,NULL,NULL),(10807,'UniProt Function',NULL,12936,NULL,'(Microbial infection) Interacts with Hepatitis B virus envelope protein.',NULL,NULL,NULL,NULL,NULL),(10808,'UniProt Function',NULL,12937,NULL,'Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle (PubMed:11448995, PubMed:16205939). Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(10809,'UniProt Function',NULL,12938,NULL,'Major protein of the otoconia, a calcium carbonate structure in the saccule and utricle of the ear. Together with OTOL1, acts as a scaffold for otoconia biomineralization: sequesters calcium and forms interconnecting fibrils between otoconia that are incorporated into the calcium crystal structure. Together with OTOL1, modulates calcite crystal morphology and growth kinetics. It is unlikely that this protein has phospholipase A2 activity.',NULL,NULL,NULL,NULL,NULL),(10810,'UniProt Function',NULL,12939,NULL,'Plays a role in the incorporation of pigments into hair. May function in membrane fusion and regulate the biogenesis of disk membranes of photoreceptor rod cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(10811,'UniProt Function',NULL,12941,NULL,'Regulates transcription in association with TATA binding protein (TBP). Removes TBP from the TATA box in an ATP-dependent manner.',NULL,NULL,NULL,NULL,NULL),(10812,'UniProt Function',NULL,12943,NULL,'Mediates the proteolytic cleavage of HP/haptoglobin in the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(10813,'UniProt Function',NULL,12946,NULL,'Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways.',NULL,NULL,NULL,NULL,NULL),(10814,'UniProt Function',NULL,12947,NULL,'Two-heme-containing cytochrome that catalyzes ascorbate-dependent trans-membrane ferric-chelate reduction.',NULL,NULL,NULL,NULL,NULL),(10815,'UniProt Function',NULL,12948,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(10816,'UniProt Function',NULL,12949,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(10817,'UniProt Function',NULL,12950,NULL,'Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1 (By similarity). Homophilic adhesion molecule, but these interactions may not be required for cell aggregation (By similarity).',NULL,NULL,NULL,NULL,NULL),(10818,'UniProt Function',NULL,12951,NULL,'The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.',NULL,NULL,NULL,NULL,NULL),(10819,'UniProt Function',NULL,12952,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.',NULL,NULL,NULL,NULL,NULL),(10820,'UniProt Function',NULL,12953,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Cadherin-24 mediate strong cell-cell adhesion.',NULL,NULL,NULL,NULL,NULL),(10821,'UniProt Function',NULL,12954,NULL,'Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and umami tastes. Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel: mediates neuronal excitability in response to changes in extracellular Ca(2+) concentration. Has poor ion selectivity and forms a wide pore (around 14 Angstroms) that mediates permeation of Ca(2+), Na(+) and K(+), as well as permeation of monovalent anions. Acts as an activator of the ERK1 and ERK2 cascade. Triggers endoplasmic reticulum stress by reducing the calcium content of the endoplasmic reticulum. May indirectly control amyloid precursor protein (APP) proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+) dependent manner.',NULL,NULL,NULL,NULL,NULL),(10822,'UniProt Function',NULL,12956,NULL,'Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the ER. Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export. Involved in maternal gene expression regulation. May participate in oocyte maturation via the regulation of calcium homeostasis (By similarity).',NULL,NULL,NULL,NULL,NULL),(10823,'UniProt Function',NULL,12957,NULL,'May function as a specific light chain of unconventional myosin-10 (MYO10), also enhances MYO10 translation, possibly by acting as a chaperone for the emerging MYO10 heavy chain protein. May compete with calmodulin by binding, with different affinities, to cellular substrates.',NULL,NULL,NULL,NULL,NULL),(10824,'UniProt Function',NULL,12958,NULL,'Reversible hydration of carbon dioxide.',NULL,NULL,NULL,NULL,NULL),(10825,'UniProt Function',NULL,12959,NULL,'This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram-negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa. Acting alone, it does not have antimicrobial activity against the Gram-negative bacteria A.actinomycetemcomitans ATCC 29532, A.actinomycetemcomitans NCTC 9709, A.actinomycetemcomitans FDC-Y4, H.aphrophilus ATCC 13252, E.corrodens ATCC 23834, C.sputigena ATCC 33123, Capnocytophaga sp ATCC 33124, Capnocytophaga sp ATCC 27872 or E.coli ML-35. Has antibacterial activity against C.sputigena ATCC 33123 when acting synergistically with either elastase or cathepsin G.',NULL,NULL,NULL,NULL,NULL),(10826,'UniProt Function',NULL,12960,NULL,'Key assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate-recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes. Acts as a F-box protein exchange factor. The exchange activity of CAND1 is coupled with cycles of neddylation conjugation: in the deneddylated state, cullin-binding CAND1 binds CUL1-RBX1, increasing dissociation of the SCF complex and promoting exchange of the F-box protein. Probably plays a similar role in other cullin-RING E3 ubiquitin ligase complexes.',NULL,NULL,NULL,NULL,NULL),(10827,'UniProt Function',NULL,12961,NULL,'Thiol protease that cleaves IL-1 beta between an Asp and an Ala, releasing the mature cytokine which is involved in a variety of inflammatory processes. Important for defense against pathogens. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Can also promote apoptosis. Upon inflammasome activation, during DNA virus infection but not RNA virus challenge, controls antiviral immunity through the cleavage of CGAS, rendering it inactive (PubMed:28314590).',NULL,NULL,NULL,NULL,NULL),(10828,'UniProt Function',NULL,12965,NULL,'Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis.',NULL,NULL,NULL,NULL,NULL),(10829,'UniProt Function',NULL,12966,NULL,'May play role in synaptogenesis induction.',NULL,NULL,NULL,NULL,NULL),(10830,'UniProt Function',NULL,12967,NULL,'Specifically removes C-terminal basic residues (Arg or Lys) from peptides and proteins. It is believed to play important roles in the control of peptide hormone and growth factor activity at the cell surface, and in the membrane-localized degradation of extracellular proteins.',NULL,NULL,NULL,NULL,NULL),(10831,'UniProt Function',NULL,12968,NULL,'E3 SUMO-protein ligase which facilitates SUMO1 conjugation by UBE2I (PubMed:12679040). Involved in the sumoylation of HNRNPK, a p53/TP53 transcriptional coactivator, hence indirectly regulates p53/TP53 transcriptional activation resulting in p21/CDKN1A expression. Monosumoylates ZNF131 (PubMed:22825850).',NULL,NULL,NULL,NULL,NULL),(10832,'UniProt Function',NULL,12968,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:12167701, PubMed:19636380, PubMed:21282530). PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility (PubMed:12167701, PubMed:19636380, PubMed:21282530). Binds to histone H3 trimethylated at \'Lys-9\' (H3K9me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity).',NULL,NULL,NULL,NULL,NULL),(10833,'UniProt Function',NULL,12970,NULL,'Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outer dynein arms.',NULL,NULL,NULL,NULL,NULL),(10834,'UniProt Function',NULL,12972,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility.',NULL,NULL,NULL,NULL,NULL),(10835,'UniProt Function',NULL,12973,NULL,'Cleaves substrates with C-terminal arginine residues. Probably modulates the Wnt signaling pathway, by cleaving some undefined protein. May play a role in cleavage during prohormone processing.',NULL,NULL,NULL,NULL,NULL),(10836,'UniProt Function',NULL,12974,NULL,'Required for sperm development.',NULL,NULL,NULL,NULL,NULL),(10837,'UniProt Function',NULL,12976,NULL,'Plays a role in spermiogenesis. Involved in the elongation of flagella and the formation of sperm heads.',NULL,NULL,NULL,NULL,NULL),(10838,'UniProt Function',NULL,12978,NULL,'Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes and is dependent on its interaction with WASHC2C (PubMed:25355947).',NULL,NULL,NULL,NULL,NULL),(10839,'UniProt Function',NULL,12981,NULL,'Regulates the trafficking to the somatodendritic compartment and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.',NULL,NULL,NULL,NULL,NULL),(10840,'UniProt Function',NULL,12982,NULL,'May be involved in the control of the cell cycle at the G1/S (start) and G2/M (mitosis) transitions. May primarily function in the control of the germline meiotic cell cycle and additionally in the control of mitotic cell cycle in some somatic cells.',NULL,NULL,NULL,NULL,NULL),(10841,'UniProt Function',NULL,12983,NULL,'Cyclins are positive regulatory subunits of the cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle, notably via their destruction during cell division. Its tissue specificity suggest that it may be required during early meiotic prophase I.',NULL,NULL,NULL,NULL,NULL),(10842,'UniProt Function',NULL,12985,NULL,'Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex. Activates mRNA deadenylation in a CNOT6 and CNOT7-dependent manner. In vitro can inhibit deadenylase activity of CNOT7 and CNOT8. Involved in cell cycle regulation. Could be involved in the growth arrest and differentiation of the neuronal precursors (By similarity). Modulates transcription regulation mediated by ESR1. Involved in mitochondrial depolarization and neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(10843,'UniProt Function',NULL,12987,NULL,'Required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits. May be required for trophinin-dependent regulation of cell adhesion during implantation of human embryos.',NULL,NULL,NULL,NULL,NULL),(10844,'UniProt Function',NULL,12988,NULL,'Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(10845,'UniProt Function',NULL,12989,NULL,'C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system.',NULL,NULL,NULL,NULL,NULL),(10846,'UniProt Function',NULL,12990,NULL,'Is believed to be a multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular \"heads\" of C1q thus inhibiting C1; may perform the receptor function through a complex with C1qR/CD93. In complex with cytokeratin-1/KRT1 is a high affinity receptor for kininogen-1/HMWK. Can also bind other plasma proteins, such as coagulation factor XII leading to its autoactivation. May function to bind initially fluid kininogen-1 to the cell membrane. The secreted form may enhance both extrinsic and intrinsic coagulation pathways. It is postulated that the cell surface form requires docking with transmembrane proteins for downstream signaling which might be specific for a cell-type or response. By acting as C1q receptor is involved in chemotaxis of immature dendritic cells and neutrophils and is proposed to signal through CD209/DC-SIGN on immature dendritic cells, through integrin alpha-4/beta-1 during trophoblast invasion of the decidua, and through integrin beta-1 during endothelial cell adhesion and spreading. Signaling involved in inhibition of innate immune response is implicating the PI3K-AKT/PKB pathway. Required for protein synthesis in mitochondria (PubMed:28942965). In mitochondrial translation may be involved in formation of functional 55S mitoribosomes; the function seems to involve its RNA-binding activity. May be involved in the nucleolar ribosome maturation process; the function may involve the exchange of FBL for RRP1 in the association with pre-ribosome particles. Involved in regulation of RNA splicing by inhibiting the RNA-binding capacity of SRSF1 and its phosphorylation. Is required for the nuclear translocation of splicing factor U2AF1L4. Involved in regulation of CDKN2A- and HRK-mediated apoptosis. Stabilizes mitochondrial CDKN2A isoform smARF. May be involved in regulation of FOXC1 transcriptional activity and NFY/CCAAT-binding factor complex-mediated transcription. May play a role in antibacterial defense as it can bind to cell surface hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase. May be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppression of interleukin-12 production in monocyte-derived dendritic cells. Involved in regulation of antiviral response by inhibiting DDX58- and IFIH1-mediated signaling pathways probably involving its association with MAVS after viral infection.',NULL,NULL,NULL,NULL,NULL),(10847,'UniProt Function',NULL,12990,NULL,'(Microbial infection) Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA.',NULL,NULL,NULL,NULL,NULL),(10848,'UniProt Function',NULL,12990,NULL,'(Microbial infection) In infection processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B and Staphylococcus aureus protein A.',NULL,NULL,NULL,NULL,NULL),(10849,'UniProt Function',NULL,12990,NULL,'(Microbial infection) Involved in replication of Rubella virus.',NULL,NULL,NULL,NULL,NULL),(10850,'UniProt Function',NULL,12991,NULL,'May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity).',NULL,NULL,NULL,NULL,NULL),(10851,'UniProt Function',NULL,12994,NULL,'Modulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors (ITPRs)(PubMed:14570872). Inhibits agonist-induced intracellular calcium signaling (PubMed:15980432). Enhances inactivation and does not support calcium-dependent facilitation of voltage-dependent P/Q-type calcium channels (PubMed:11865310). Causes calcium-dependent facilitation and inhibits inactivation of L-type calcium channels by binding to the same sites as calmodulin in the C-terminal domain of CACNA1C, but has an opposite effect on channel function (PubMed:15140941). Suppresses the calcium-dependent inactivation of CACNA1D (By similarity). Inhibits TRPC5 channels (PubMed:15895247). Prevents NMDA receptor-induced cellular degeneration. Required for the normal transfer of light signals through the retina (By similarity).',NULL,NULL,NULL,NULL,NULL),(10852,'UniProt Function',NULL,12996,NULL,'Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs (PubMed:28183797). Required for the normal transfer of light signals through the retina (By similarity).',NULL,NULL,NULL,NULL,NULL),(10853,'UniProt Function',NULL,12997,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May play an important role in retinal development.',NULL,NULL,NULL,NULL,NULL),(10854,'UniProt Function',NULL,12998,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport.',NULL,NULL,NULL,NULL,NULL),(10855,'UniProt Function',NULL,12999,NULL,'Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells (PubMed:11976333). Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7.',NULL,NULL,NULL,NULL,NULL),(10856,'UniProt Function',NULL,12999,NULL,'E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP C99 and C83 production.',NULL,NULL,NULL,NULL,NULL),(10857,'UniProt Function',NULL,12999,NULL,'(Microbial infection) Serves as a receptor for Listeria monocytogenes; internalin A (InlA) binds to this protein and promotes uptake of the bacteria.',NULL,NULL,NULL,NULL,NULL),(10858,'UniProt Function',NULL,13000,NULL,'Core component of the CAF-1 complex, a complex thought to mediate chromatin assembly in DNA replication and DNA repair. Assembles histone octamers onto replicating DNA in vitro. CAF-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones H3 and H4 to replicating DNA; histones H2A/H2B can bind to this chromatin precursor subsequent to DNA replication to complete the histone octamer. CHAF1A binds to histones H3 and H4. It may play a role in heterochromatin maintenance in proliferating cells by bringing newly synthesized cbx proteins to heterochromatic DNA replication foci (By similarity).',NULL,NULL,NULL,NULL,NULL),(10859,'UniProt Function',NULL,13002,NULL,'May regulate voltage-dependent calcium channels.',NULL,NULL,NULL,NULL,NULL),(10860,'UniProt Function',NULL,13003,NULL,'Likely involved in the mobilization of calcium as a result of the TCR/CD3 complex interaction. Binds to cyclophilin B.',NULL,NULL,NULL,NULL,NULL),(10861,'UniProt Function',NULL,13005,NULL,'Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization, however, seems unable to nucleate filaments (PubMed:16054028). Plays a role in lamellipodial protrusion formations and cell migration (PubMed:19846667).',NULL,NULL,NULL,NULL,NULL),(10862,'UniProt Function',NULL,13007,NULL,'Thiol protease which is believed to participate in intracellular degradation and turnover of proteins (PubMed:12220505). Cleaves matrix extracellular phosphoglycoprotein MEPE (PubMed:12220505). Has also been implicated in tumor invasion and metastasis (PubMed:3972105).',NULL,NULL,NULL,NULL,NULL),(10863,'UniProt Function',NULL,13012,NULL,'Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species.',NULL,NULL,NULL,NULL,NULL),(10864,'UniProt Function',NULL,13013,NULL,'F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the morphogenesis of spermatid (By similarity).',NULL,NULL,NULL,NULL,NULL),(10865,'UniProt Function',NULL,13014,NULL,'Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.',NULL,NULL,NULL,NULL,NULL),(10866,'UniProt Function',NULL,13015,NULL,'Binds sperm in vitro and promotes sperm capacitation. Specifically promotes capacitation induced by high density lipoproteins (HDLs). Also binds heparin, phospholipid liposomes, and weakly to gelatin. Does not bind chondroitin sulfate B.',NULL,NULL,NULL,NULL,NULL),(10867,'UniProt Function',NULL,13016,NULL,'Plays a role in chromatin remodeling and regulation of transcription (PubMed:22464331, PubMed:26365797). Acts as a chromatin reader that recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated (PubMed:26365797). Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058).',NULL,NULL,NULL,NULL,NULL),(10868,'UniProt Function',NULL,13017,NULL,'Receptor for both classical and non-classical MHC class I molecules (PubMed:9973372). May provide a costimulatory signal to activated/memory T cells (PubMed:9973372). Upon binding to HLA-G may control angiogenesis in immune privileged sites (PubMed:16809620).',NULL,NULL,NULL,NULL,NULL),(10869,'UniProt Function',NULL,13018,NULL,'Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and 18-hydroxycorticosterone.',NULL,NULL,NULL,NULL,NULL),(10870,'UniProt Function',NULL,13019,NULL,'Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development.',NULL,NULL,NULL,NULL,NULL),(10871,'UniProt Function',NULL,13022,NULL,'C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.',NULL,NULL,NULL,NULL,NULL),(10872,'UniProt Function',NULL,13023,NULL,'Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. It also interacts with anticoagulant protein S and with serum amyloid P component. The beta chain binds protein S.',NULL,NULL,NULL,NULL,NULL),(10873,'UniProt Function',NULL,13024,NULL,'Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis.',NULL,NULL,NULL,NULL,NULL),(10874,'UniProt Function',NULL,13027,NULL,'Reversible hydration of carbon dioxide. Its role in saliva is unknown.',NULL,NULL,NULL,NULL,NULL),(10875,'UniProt Function',NULL,13028,NULL,'Xenophagy-specific receptor required for autophagy-mediated intracellular bacteria degradation. Acts as an effector protein of galectin-sensed membrane damage that restricts the proliferation of infecting pathogens such as Salmonella typhimurium upon entry into the cytosol by targeting LGALS8-associated bacteria for autophagy (PubMed:22246324). Initially orchestrates bacteria targeting to autophagosomes and subsequently ensures pathogen degradation by regulating pathogen-containing autophagosome maturation (PubMed:23022382, PubMed:25771791). Bacteria targeting to autophagosomes relies on its interaction with MAP1LC3A, MAP1LC3B and/or GABARAPL2, whereas regulation of pathogen-containing autophagosome maturation requires the interaction with MAP3LC3C (PubMed:23022382, PubMed:25771791). May play a role in ruffle formation and actin cytoskeleton organization and seems to negatively regulate constitutive secretion (PubMed:17635994).',NULL,NULL,NULL,NULL,NULL),(10876,'UniProt Function',NULL,13030,NULL,'Pore-forming subunit of a voltage-gated ion channel.',NULL,NULL,NULL,NULL,NULL),(10877,'UniProt Function',NULL,13031,NULL,'Pore-forming subunit of a voltage-gated ion channel.',NULL,NULL,NULL,NULL,NULL),(10878,'UniProt Function',NULL,13032,NULL,'CGRP induces vasodilation. It dilates a variety of vessels including the coronary, cerebral and systemic vasculature. Its abundance in the CNS also points toward a neurotransmitter or neuromodulator role.',NULL,NULL,NULL,NULL,NULL),(10879,'UniProt Function',NULL,13033,NULL,'Pore-forming subunit of a voltage-gated ion channel.',NULL,NULL,NULL,NULL,NULL),(10880,'UniProt Function',NULL,13034,NULL,'Calcium-regulated non-lysosomal thiol-protease.',NULL,NULL,NULL,NULL,NULL),(10881,'UniProt Function',NULL,13035,NULL,'Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May function in transmitting growth control signals between focal adhesions at the cell periphery and the mitotic spindle in response to adhesion or growth factor signals initiating cell proliferation. May play an important role in integrin beta-1 or B cell antigen receptor (BCR) mediated signaling in B- and T-cells. Integrin beta-1 stimulation leads to recruitment of various proteins including CRK, NCK and SHPTP2 to the tyrosine phosphorylated form.',NULL,NULL,NULL,NULL,NULL),(10882,'UniProt Function',NULL,13036,NULL,'Acts as a transcriptional activator that mediates the calcium- and neuron-selective induction of BDNF exon III transcription. Binds to the consensus calcium-response element CaRE1 5\'-CTATTTCGAG-3\' sequence.',NULL,NULL,NULL,NULL,NULL),(10883,'UniProt Function',NULL,13038,NULL,'Plays a role in primary ciliogenesis by modulating actin polymerization.',NULL,NULL,NULL,NULL,NULL),(10884,'UniProt Function',NULL,13039,NULL,'The heterotetramer with HSD17B8 has NADH-dependent 3-ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis (PubMed:19571038, PubMed:25203508). Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD (PubMed:25203508). The homotetramer has NADPH-dependent quinone reductase activity (PubMed:19000905). Both homotetramer and the heterotetramer have broad substrate specificity and can reduce 9,10-phenanthrenequinone, 1,4-benzoquinone and various other o-quinones and p-quinones (in vitro) (PubMed:19000905, PubMed:19571038, PubMed:25203508).',NULL,NULL,NULL,NULL,NULL),(10885,'UniProt Function',NULL,13040,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility. Promotes histone H3 trimethylation at \'Lys-9\' (H3K9me3). Binds to trimethylated lysine residues in histones, and possibly also other proteins. Regulator of cellular lifespan by maintaining the repression of CDKN2A, but not by inducing telomerase activity.',NULL,NULL,NULL,NULL,NULL),(10886,'UniProt Function',NULL,13043,NULL,'Functions as a transcriptional repressor (PubMed:17014843). May inhibit the activity of CTNNB1 in a TP53-dependent manner and thus regulate cell growth (PubMed:17873903). May function in adipocyte differentiation, negatively regulating mitotic clonal expansion (By similarity).',NULL,NULL,NULL,NULL,NULL),(10887,'UniProt Function',NULL,13043,NULL,'(Microbial infection) Plays a role in hepatitis delta virus (HDV) genomic replication.',NULL,NULL,NULL,NULL,NULL),(10888,'UniProt Function',NULL,13046,NULL,'Involved in regulation of NF-kappa-B signaling. Promotes ubiquitination of I-kappa-B-kinase subunit IKBKB and its subsequent proteasomal degradation leading to NF-kappa-B activation; the function may involve association with COMMD8 and a CUL1-dependent E3 ubiquitin ligase complex. May down-regulate NF-kappa-B activity via association with COMMD1 and involving a CUL2-dependent E3 ubiquitin ligase complex. Regulates the cellular localization of COMM domain-containing proteins, such as COMMD1 and COMMD10 (PubMed:23563313). Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947).',NULL,NULL,NULL,NULL,NULL),(10889,'UniProt Function',NULL,13051,NULL,'Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (PubMed:21127204). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2 (PubMed:21172611).',NULL,NULL,NULL,NULL,NULL),(10890,'UniProt Function',NULL,13053,NULL,'C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4.',NULL,NULL,NULL,NULL,NULL),(10891,'UniProt Function',NULL,13055,NULL,'Receptor (or element of a larger receptor complex) for C1q, mannose-binding lectin (MBL2) and pulmonary surfactant protein A (SPA). May mediate the enhancement of phagocytosis in monocytes and macrophages upon interaction with soluble defense collagens. May play a role in intercellular adhesion.',NULL,NULL,NULL,NULL,NULL),(10892,'UniProt Function',NULL,13060,NULL,'Catalyzes the reversible transfer of acyl groups from carnitine to coenzyme A (CoA) and regulates the acyl-CoA/CoA ratio. Also plays a crucial role in the transport of fatty acids for beta-oxidation. May be specific for short chain fatty acids.',NULL,NULL,NULL,NULL,NULL),(10893,'UniProt Function',NULL,13061,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(10894,'UniProt Function',NULL,13062,NULL,'Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the \"low-voltage activated (LVA)\" group and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite negative potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes.',NULL,NULL,NULL,NULL,NULL),(10895,'UniProt Function',NULL,13063,NULL,'Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the \"low-voltage activated (LVA)\" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (By similarity).',NULL,NULL,NULL,NULL,NULL),(10896,'UniProt Function',NULL,13065,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation.',NULL,NULL,NULL,NULL,NULL),(10897,'UniProt Function',NULL,13066,NULL,'Involved in the cell-cell adhesion. Has calcium- and magnesium-independent cell-cell adhesion activity. May have tumor-suppressor activity.',NULL,NULL,NULL,NULL,NULL),(10898,'UniProt Function',NULL,13067,NULL,'Reversible hydration of carbon dioxide.',NULL,NULL,NULL,NULL,NULL),(10899,'UniProt Function',NULL,13068,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(10900,'UniProt Function',NULL,13069,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Ligand for integrins alpha-E/beta-7, ITGAE:ITGAB7, alpha-4/beta-7, ITGA4:ITGAB7 and alpha-4/beta-1, ITGA4:ITGAB1 through which modulates CD4(+) T cells activation (PubMed:28051089).',NULL,NULL,NULL,NULL,NULL),(10901,'UniProt Function',NULL,13070,NULL,'Reversible hydration of carbon dioxide. Can hydrates cyanamide to urea.',NULL,NULL,NULL,NULL,NULL),(10902,'UniProt Function',NULL,13071,NULL,'Does not have a catalytic activity.',NULL,NULL,NULL,NULL,NULL),(10903,'UniProt Function',NULL,13072,NULL,'Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell. Cadherins may thus contribute to the sorting of heterogeneous cell types. Acts as a regulator of neural stem cells quiescence by mediating anchorage of neural stem cells to ependymocytes in the adult subependymal zone: upon cleavage by MMP24, CDH2-mediated anchorage is affected, leading to modulate neural stem cell quiescence. CDH2 may be involved in neuronal recognition mechanism. In hippocampal neurons, may regulate dendritic spine density.',NULL,NULL,NULL,NULL,NULL),(10904,'UniProt Function',NULL,13073,NULL,'Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8392192, PubMed:7737988, PubMed:9087614, PubMed:9013606, PubMed:9607315, PubMed:12176756, PubMed:17071743, PubMed:11741969, PubMed:8099908, PubMed:12181424, PubMed:29078335, PubMed:29742403, PubMed:16299511, PubMed:20953164, PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506, PubMed:27218670). Mediates influx of calcium ions into the cytoplasm, and thereby triggers calcium release from the sarcoplasm (By similarity). Plays an important role in excitation-contraction coupling in the heart. Required for normal heart development and normal regulation of heart rhythm (PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506). Required for normal contraction of smooth muscle cells in blood vessels and in the intestine. Essential for normal blood pressure regulation via its role in the contraction of arterial smooth muscle cells (PubMed:28119464). Long-lasting (L-type) calcium channels belong to the \'high-voltage activated\' (HVA) group (Probable).',NULL,NULL,NULL,NULL,NULL),(10905,'UniProt Function',NULL,13073,NULL,'(Microbial infection) Acts as a receptor for Influenzavirus (PubMed:29779930). May play a critical role in allowing virus entry when sialylated and expressed on lung tissues (PubMed:29779930).',NULL,NULL,NULL,NULL,NULL),(10906,'UniProt Function',NULL,13074,NULL,'Reversible hydration of carbon dioxide.',NULL,NULL,NULL,NULL,NULL),(10907,'UniProt Function',NULL,13075,NULL,'Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site residues (By similarity).',NULL,NULL,NULL,NULL,NULL),(10908,'UniProt Function',NULL,13076,NULL,'Probable non-lysosomal thiol-protease.',NULL,NULL,NULL,NULL,NULL),(10909,'UniProt Function',NULL,13077,NULL,'Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Forms a signaling complex with BCL10 and MALT1, and activates MALT1 proteolytic activity and inflammatory gene expression. MALT1 is indispensable for CARD14-induced activation of NF-kappa-B and p38/JNK MAP kinases (PubMed:11278692, PubMed:21302310, PubMed:27113748, PubMed:27071417). May play a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis.',NULL,NULL,NULL,NULL,NULL),(10910,'UniProt Function',NULL,13077,NULL,'Isoform 3: Not able to activate the inflammatory transcription factor NF-kappa-B and may fuction as a dominant negative regulator (PubMed:21302310, PubMed:26358359).',NULL,NULL,NULL,NULL,NULL),(10911,'UniProt Function',NULL,13078,NULL,'Caspase inhibitor. Acts as a regulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-interleukin-1 beta (IL1B) and its release during inflammation. Inhibits the release of IL1B in response to LPS in monocytes. Also induces NF-kappa-B activation during the pro-inflammatory cytokine response. Also able to inhibit CASP1-mediated neuronal cell death, TNF-alpha, hypoxia-, UV-, and staurosporine-mediated cell death but not ER stress-mediated cell death. Acts by preventing activation of caspases CASP1 and CASP4, possibly by preventing the interaction between CASP1 and RIPK2.',NULL,NULL,NULL,NULL,NULL),(10912,'UniProt Function',NULL,13079,NULL,'Regulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-IL-1beta/IL1B and its release during inflammation. Inhibits the release of IL1B in response to LPS in monocytes. However, unlike CASP1, do not induce NF-kappa-B activation.',NULL,NULL,NULL,NULL,NULL),(10913,'UniProt Function',NULL,13080,NULL,'Inhibits generation of IL-1-beta by interacting with caspase-1 and preventing its association with RIP2. Down-regulates the release of IL1B.',NULL,NULL,NULL,NULL,NULL),(10914,'UniProt Function',NULL,13081,NULL,'Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk.',NULL,NULL,NULL,NULL,NULL),(10915,'UniProt Function',NULL,13082,NULL,'Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441).',NULL,NULL,NULL,NULL,NULL),(10916,'UniProt Function',NULL,13083,NULL,'Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034). Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.',NULL,NULL,NULL,NULL,NULL),(10917,'UniProt Function',NULL,13084,NULL,'Regulates the traffic and/or budding of caveolae (PubMed:19262564). Plays a role in caveola formation in a tissue-specific manner. Required for the formation of caveolae in smooth muscle but not in the lung and heart endothelial cells. Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by promoting the rapid release of caveolae from the cell surface. Plays a role in the regulation of the circadian clock. Modulates the period length and phase of circadian gene expression and also regulates expression and interaction of the core clock components PER1/2 and CRY1/2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(10918,'UniProt Function',NULL,13085,NULL,'This is a receptor for calcitonin. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. The calcitonin receptor is thought to couple to the heterotrimeric guanosine triphosphate-binding protein that is sensitive to cholera toxin.',NULL,NULL,NULL,NULL,NULL),(10919,'UniProt Function',NULL,13086,NULL,'Calcium-regulated non-lysosomal thiol-protease.',NULL,NULL,NULL,NULL,NULL),(10920,'UniProt Function',NULL,13087,NULL,'Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity.',NULL,NULL,NULL,NULL,NULL),(10921,'UniProt Function',NULL,13088,NULL,'Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Proteolytically cleaves MYOC at \'Arg-226\' (PubMed:17650508). Proteolytically cleaves CPEB3 following neuronal stimulation which abolishes CPEB3 translational repressor activity, leading to translation of CPEB3 target mRNAs (By similarity).',NULL,NULL,NULL,NULL,NULL),(10922,'UniProt Function',NULL,13089,NULL,'Directly regulates filament dynamics and has been implicated in a number of complex developmental and morphological processes, including mRNA localization and the establishment of cell polarity.',NULL,NULL,NULL,NULL,NULL),(10923,'UniProt Function',NULL,13090,NULL,'Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:23169647, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153, PubMed:24706919). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:27666745). Essential for the tethering, but not for nucleation of non-centrosomal microtubules at the Golgi: together with Golgi-associated proteins AKAP9 and PDE4DIP, required to tether non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745). Also acts as a regulator of neuronal polarity and development: localizes to non-centrosomal microtubule minus-ends in neurons and stabilizes non-centrosomal microtubules, which is required for neuronal polarity, axon specification and dendritic branch formation (PubMed:24908486). Through the microtubule cytoskeleton, regulates the autophagosome transport (PubMed:28726242).',NULL,NULL,NULL,NULL,NULL),(10924,'UniProt Function',NULL,13091,NULL,'Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization (PubMed:26466680). Plays a role in cell protrusion formations; involved in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations (PubMed:19846667, PubMed:26578515, PubMed:26466680). Involved as well in cell migration and invadopodia formation during wound healing (PubMed:19846667, PubMed:26578515, PubMed:26466680).',NULL,NULL,NULL,NULL,NULL),(10925,'UniProt Function',NULL,13093,NULL,'May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae (PubMed:19262564).',NULL,NULL,NULL,NULL,NULL),(10926,'UniProt Function',NULL,13094,NULL,'Has no protease activity. May reduce cytokine release in response to bacterial lipopolysaccharide during infections. Reduces activation of NF-kappa-B in response to TNF.',NULL,NULL,NULL,NULL,NULL),(10927,'UniProt Function',NULL,13097,NULL,'G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis (PubMed:7759551, PubMed:8702647, PubMed:8636323, PubMed:8878438, PubMed:17555508, PubMed:19789209, PubMed:21566075, PubMed:22114145, PubMed:23966241, PubMed:25292184, PubMed:25104082, PubMed:26386835, PubMed:25766501, PubMed:22789683). Senses fluctuations in the circulating calcium concentration and modulates the production of parathyroid hormone (PTH) in parathyroid glands (By similarity). The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:7759551). The G-protein-coupled receptor activity is activated by a co-agonist mechanism: aromatic amino acids, such as Trp or Phe, act concertedly with divalent cations, such as calcium or magnesium, to achieve full receptor activation (PubMed:27434672, PubMed:27386547).',NULL,NULL,NULL,NULL,NULL),(10928,'UniProt Function',NULL,13098,NULL,'Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Functionally coupled with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction; upon EGF activation, ubiquitinates EGFR. Isoform 1, but not isoform 2, inhibits EGF stimulated MAPK1 activation. Promotes ubiquitination of SRC phosphorylated at \'Tyr-419\'. In collaboration with CD2AP may act as regulatory checkpoint for Ret signaling by modulating the rate of RET degradation after ligand activation; CD2AP converts it from an inhibitor to a promoter of RET degradation; the function limits the potency of GDNF on neuronal survival.',NULL,NULL,NULL,NULL,NULL),(10929,'UniProt Function',NULL,13099,NULL,'Required for proper progression of late cytokinetic stages.',NULL,NULL,NULL,NULL,NULL),(10930,'UniProt Function',NULL,13100,NULL,'Dynein-attachment factor required for cilia motility.',NULL,NULL,NULL,NULL,NULL),(10931,'UniProt Function',NULL,13102,NULL,'Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate. Required for the proper folding, assembly and ER to Golgi exit of the ATP8A2:TMEM30A flippase complex. ATP8A2:TMEM30A may be involved in regulation of neurite outgrowth, and, reconstituted to liposomes, predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). The ATP8A1:TMEM30A flippase complex seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Required for the formation of the ATP8A2, ATP8B1 and ATP8B2 P-type ATPAse intermediate phosphoenzymes. Involved in uptake of platelet-activating factor (PAF), synthetic drug alkylphospholipid edelfosine, and, probably in association with ATP8B1, of perifosine. Also mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2, ATP8B4, ATP10A, ATP10B, ATP10D, ATP11A, ATP11B and ATP11C from the ER to other membrane localizations.',NULL,NULL,NULL,NULL,NULL),(10932,'UniProt Function',NULL,13105,NULL,'Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:23981774, PubMed:20506325, PubMed:23974653). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(10933,'UniProt Function',NULL,13110,NULL,'Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions. Inhibits SIRT1 deacetylase activity leading to increasing levels of p53/TP53 acetylation and p53-mediated apoptosis. Inhibits SUV39H1 methyltransferase activity. As part of a histone H3-specific methyltransferase complex may mediate ligand-dependent transcriptional activation by nuclear hormone receptors. Plays a critical role in maintaining genomic stability and cellular integrity following UV-induced genotoxic stress. Regulates the circadian expression of the core clock components NR1D1 and ARNTL/BMAL1. Enhances the transcriptional repressor activity of NR1D1 through stabilization of NR1D1 protein levels by preventing its ubiquitination and subsequent degradation (PubMed:18235501, PubMed:18235502, PubMed:19131338, PubMed:19218236, PubMed:22446626, PubMed:23352644, PubMed:23398316). Represses the ligand-dependent transcriptional activation function of ESR2 (PubMed:20074560). Acts as a regulator of PCK1 expression and gluconeogenesis by a mechanism that involves, at least in part, both NR1D1 and SIRT1 (PubMed:24415752). Negatively regulates the deacetylase activity of HDAC3 and can alter its subcellular localization (PubMed:21030595). Positively regulates the beta-catenin pathway (canonical Wnt signaling pathway) and is required for MCC-mediated repression of the beta-catenin pathway (PubMed:24824780). Represses ligand-dependent transcriptional activation function of NR1H2 and NR1H3 and inhibits the interaction of SIRT1 with NR1H3 (PubMed:25661920). Plays an important role in tumor suppression through p53/TP53 regulation; stabilizes p53/TP53 by affecting its interaction with ubiquitin ligase MDM2 (PubMed:25732823). Represses the transcriptional activator activity of BRCA1 (PubMed:20160719). Inhibits SIRT1 in a CHEK2 and PSEM3-dependent manner and inhibits the activity of CHEK2 in vitro (PubMed:25361978).',NULL,NULL,NULL,NULL,NULL),(10934,'UniProt Function',NULL,13113,NULL,'Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.',NULL,NULL,NULL,NULL,NULL),(10935,'UniProt Function',NULL,13114,NULL,'C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.',NULL,NULL,NULL,NULL,NULL),(10936,'UniProt Function',NULL,13122,NULL,'Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity (By similarity). May play a role in the physiology of neurons and is potentially important in memory and learning.',NULL,NULL,NULL,NULL,NULL),(10937,'UniProt Function',NULL,13124,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(10938,'UniProt Function',NULL,13125,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(10939,'UniProt Function',NULL,13126,NULL,'The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.',NULL,NULL,NULL,NULL,NULL),(10940,'UniProt Function',NULL,13127,NULL,'Cyclin-dependent kinase binding protein. Enhances cyclin-dependent kinase tyrosine phosphorylation by nonreceptor tyrosine kinases, such as that of CDK5 by activated ABL1, which leads to increased CDK5 activity and is critical for neuronal development, and that of CDK2 by WEE1, which leads to decreased CDK2 activity and growth inhibition. Positively affects neuronal outgrowth. Plays a role as a regulator for p53/p73-induced cell death (By similarity).',NULL,NULL,NULL,NULL,NULL),(10941,'UniProt Function',NULL,13128,NULL,'Adhesion molecule that engages in homo- and heterophilic interactions with the other nectin-like family members, leading to cell aggregation. Important for synapse organization, providing regulated trans-synaptic adhesion. Preferentially binds to oligodendrocytes.',NULL,NULL,NULL,NULL,NULL),(10942,'UniProt Function',NULL,13129,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(10943,'UniProt Function',NULL,13130,NULL,'Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B gives rise to N-type calcium currents. N-type calcium channels belong to the \'high-voltage activated\' (HVA) group and are specifically blocked by omega-conotoxin-GVIA (AC P01522) (AC P01522) (By similarity). They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons.',NULL,NULL,NULL,NULL,NULL),(10944,'UniProt Function',NULL,13131,NULL,'Does not have a catalytic activity.',NULL,NULL,NULL,NULL,NULL),(10945,'UniProt Function',NULL,13132,NULL,'Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption. Stimulates the chloride-bicarbonate exchange activity of SLC26A6.',NULL,NULL,NULL,NULL,NULL),(10946,'UniProt Function',NULL,13133,NULL,'Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. May play a role in insulin-stimulated glucose uptake.',NULL,NULL,NULL,NULL,NULL),(10947,'UniProt Function',NULL,13134,NULL,'Receptor for calcitonin-gene-related peptide (CGRP) together with RAMP1 and receptor for adrenomedullin together with RAMP3 (By similarity). Receptor for adrenomedullin together with RAMP2. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.',NULL,NULL,NULL,NULL,NULL),(10948,'UniProt Function',NULL,13135,NULL,'Involved in regulation of vitamin K-dependent carboxylation of multiple N-terminal glutamate residues. Seems to inhibit gamma-carboxylase GGCX. Binds 7 calcium ions with a low affinity (By similarity).',NULL,NULL,NULL,NULL,NULL),(10949,'UniProt Function',NULL,13136,NULL,'Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP (PubMed:12234496, PubMed:15248776, PubMed:15006348, PubMed:16835225). Involved in proteoglycan synthesis (PubMed:22539336).',NULL,NULL,NULL,NULL,NULL),(10950,'UniProt Function',NULL,13137,NULL,'May have a regulatory bifunctional role.',NULL,NULL,NULL,NULL,NULL),(10951,'UniProt Function',NULL,13138,NULL,'Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates catecholamine loading of DCVs. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles by acting as a PtdIns(4,5)P2-binding protein that acts at prefusion step following ATP-dependent priming and participates in DCVs-membrane fusion. However, it may also participate in small clear synaptic vesicles (SVs) exocytosis and it is unclear whether its function is related to Ca(2+) triggering (By similarity).',NULL,NULL,NULL,NULL,NULL),(10952,'UniProt Function',NULL,13139,NULL,'Important role in determination of the surface properties of the casein micelles.',NULL,NULL,NULL,NULL,NULL),(10953,'UniProt Function',NULL,13140,NULL,'Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities of EIF4A3. Plays a role in the stress response by participating in cytoplasmic stress granules assembly and by favoring cell recovery following stress. Component of the dendritic ribonucleoprotein particles (RNPs) in hippocampal neurons. May play a role in mRNA transport. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Binds poly(G) and poly(U) RNA homopolymer.',NULL,NULL,NULL,NULL,NULL),(10954,'UniProt Function',NULL,13141,NULL,'Involved in the activation cascade of caspases responsible for apoptosis execution. At the onset of apoptosis it proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a \'216-Asp-|-Gly-217\' bond. Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop-helix leucine zipper domain and the membrane attachment domain. Cleaves and activates caspase-6, -7 and -9. Involved in the cleavage of huntingtin. Triggers cell adhesion in sympathetic neurons through RET cleavage.',NULL,NULL,NULL,NULL,NULL),(10955,'UniProt Function',NULL,13142,NULL,'Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death.',NULL,NULL,NULL,NULL,NULL),(10956,'UniProt Function',NULL,13143,NULL,'Inflammatory caspase (PubMed:7797510, PubMed:23516580, PubMed:25119034). Essential effector of NLRP3 inflammasome-dependent CASP1 activation and IL1B and IL18 secretion in response to non-canonical activators, such as UVB radiation, cholera enterotoxin subunit B and cytosolic LPS (PubMed:22246630, PubMed:26174085, PubMed:26173988, PubMed:26508369, PubMed:25964352). Independently of NLRP3 inflammasome and CASP1, promotes pyroptosis, through GSDMD cleavage and activation, and IL1A, IL18 and HMGB1 release in response to non-canonical inflammasome activators (PubMed:24879791, PubMed:25964352). Plays a crucial role in the restriction of Salmonella typhimurium replication in colonic epithelial cells during infection (PubMed:25121752). In later stages of the infection, LPS from cytosolic Salmonella triggers CASP4 activation, which ultimately results in pyroptosis of infected cells and their extrusion into the gut lumen, as well as in IL18 secretion. Pyroptosis limits bacterial replication, while cytokine secretion promotes the recruitment and activation of immune cells and triggers mucosal inflammation. Involved in LPS-induced IL6 secretion; this activity may not require caspase enzymatic activity (PubMed:26508369). Involved in cell death induced by endoplasmic reticulum stress and by treatment with cytotoxic APP peptides found Alzheimer\'s patient brains (PubMed:15123740, PubMed:22246630, PubMed:23661706). Activated by direct binding to LPS without the need of an upstream sensor (PubMed:25119034). Does not directly process IL1B (PubMed:7743998, PubMed:7797592, PubMed:7797510). During non-canonical inflammasome activation, cuts CGAS and may play a role in the regulation of antiviral innate immune activation (PubMed:28314590).',NULL,NULL,NULL,NULL,NULL),(10957,'UniProt Function',NULL,13144,NULL,'Inhibits NF-kappa-B activation. May participate in a regulatory mechanism that coordinates cellular responses controlled by NF-kappa-B transcription factor. May be a component of the inflammasome, a protein complex which also includes PYCARD, NALP2 and CASP1 and whose function would be the activation of proinflammatory caspases.',NULL,NULL,NULL,NULL,NULL),(10958,'UniProt Function',NULL,13146,NULL,'May regulate epithelial calcium transport by inhibiting TRPV5 activity.',NULL,NULL,NULL,NULL,NULL),(10959,'UniProt Function',NULL,13147,NULL,'Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB.',NULL,NULL,NULL,NULL,NULL),(10960,'UniProt Function',NULL,13148,NULL,'Negative regulator of T-cell proliferation.',NULL,NULL,NULL,NULL,NULL),(10961,'UniProt Function',NULL,13150,NULL,'Acute phase-regulated receptor involved in clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages and may thereby protect tissues from free hemoglobin-mediated oxidative damage. May play a role in the uptake and recycling of iron, via endocytosis of hemoglobin/haptoglobin and subsequent breakdown of heme. Binds hemoglobin/haptoglobin complexes in a calcium-dependent and pH-dependent manner. Exhibits a higher affinity for complexes of hemoglobin and multimeric haptoglobin of HP*1F phenotype than for complexes of hemoglobin and dimeric haptoglobin of HP*1S phenotype. Induces a cascade of intracellular signals that involves tyrosine kinase-dependent calcium mobilization, inositol triphosphate production and secretion of IL6 and CSF1. Isoform 3 exhibits the higher capacity for ligand endocytosis and the more pronounced surface expression when expressed in cells.',NULL,NULL,NULL,NULL,NULL),(10962,'UniProt Function',NULL,13150,NULL,'After shedding, the soluble form (sCD163) may play an anti-inflammatory role, and may be a valuable diagnostic parameter for monitoring macrophage activation in inflammatory conditions.',NULL,NULL,NULL,NULL,NULL),(10963,'UniProt Function',NULL,13152,NULL,'Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3\'-5\' end processing of the 5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. Can induce apoptosis in a p53/TP53 dependent manner. May regulate the TRAX/TSN complex formation. Potentiates transcriptional repression by NR1D1 and THRB (By similarity).',NULL,NULL,NULL,NULL,NULL),(10964,'UniProt Function',NULL,13154,NULL,'Synthesizes the second messagers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger that elicits calcium release from intracellular stores. May be involved in pre-B-cell growth.',NULL,NULL,NULL,NULL,NULL),(10965,'UniProt Function',NULL,13155,NULL,'Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner.',NULL,NULL,NULL,NULL,NULL),(10966,'UniProt Function',NULL,13156,NULL,'Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways.',NULL,NULL,NULL,NULL,NULL),(10967,'UniProt Function',NULL,13157,NULL,'May be involved in inflammatory process. May regulate cell architecture and adhesion.',NULL,NULL,NULL,NULL,NULL),(10968,'UniProt Function',NULL,13158,NULL,'May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). May inhibit adipocyte differentiation at an early stage of the process (By similarity).',NULL,NULL,NULL,NULL,NULL),(10969,'UniProt Function',NULL,13159,NULL,'Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a (PubMed:1847994, PubMed:8182049, PubMed:7622471, PubMed:9553099, PubMed:10636859, PubMed:15153520, PubMed:29300009). The ligand interacts with at least two sites on the receptor: a high-affinity site on the extracellular N-terminus, and a second site in the transmembrane region which activates downstream signaling events (PubMed:8182049, PubMed:7622471, PubMed:9553099). Receptor activation stimulates chemotaxis, granule enzyme release, intracellular calcium release and superoxide anion production (PubMed:10636859, PubMed:15153520).',NULL,NULL,NULL,NULL,NULL),(10970,'UniProt Function',NULL,13166,NULL,'Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1.',NULL,NULL,NULL,NULL,NULL),(10971,'UniProt Function',NULL,13167,NULL,'The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G). Overexpression induces apoptosis.',NULL,NULL,NULL,NULL,NULL),(10972,'UniProt Function',NULL,13168,NULL,'May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.',NULL,NULL,NULL,NULL,NULL),(10973,'UniProt Function',NULL,13168,NULL,'Isoform 5 may be involved in the exocytosis of zymogens by pancreatic acini.',NULL,NULL,NULL,NULL,NULL),(10974,'UniProt Function',NULL,13169,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May act as a negative regulator of neural cell growth.',NULL,NULL,NULL,NULL,NULL),(10975,'UniProt Function',NULL,13170,NULL,'Unknown. Probably involved in G1-S cell cycle transition.',NULL,NULL,NULL,NULL,NULL),(10976,'UniProt Function',NULL,13171,NULL,'Pore-forming subunit of a voltage-gated ion channel.',NULL,NULL,NULL,NULL,NULL),(10977,'UniProt Function',NULL,13172,NULL,'Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity).',NULL,NULL,NULL,NULL,NULL),(10978,'UniProt Function',NULL,13174,NULL,'Calcitonin causes a rapid but short-lived drop in the level of calcium and phosphate in blood by promoting the incorporation of those ions in the bones.',NULL,NULL,NULL,NULL,NULL),(10979,'UniProt Function',NULL,13174,NULL,'Katacalcin is a potent plasma calcium-lowering peptide.',NULL,NULL,NULL,NULL,NULL),(10980,'UniProt Function',NULL,13175,NULL,'Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid.',NULL,NULL,NULL,NULL,NULL),(10981,'UniProt Function',NULL,13176,NULL,'Probable assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate-recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes.',NULL,NULL,NULL,NULL,NULL),(10982,'UniProt Function',NULL,13177,NULL,'Calcium-binding protein that interacts with newly synthesized glycoproteins in the endoplasmic reticulum. It may act in assisting protein assembly and/or in the retention within the ER of unassembled protein subunits. It seems to play a major role in the quality control apparatus of the ER by the retention of incorrectly folded proteins. Associated with partial T-cell antigen receptor complexes that escape the ER of immature thymocytes, it may function as a signaling complex regulating thymocyte maturation. Additionally it may play a role in receptor-mediated endocytosis at the synapse.',NULL,NULL,NULL,NULL,NULL),(10983,'UniProt Function',NULL,13178,NULL,'Interacts with clathrin light chain A and stimulates clathrin self-assembly and clathrin-mediated endocytosis.',NULL,NULL,NULL,NULL,NULL),(10984,'UniProt Function',NULL,13179,NULL,'May regulate the transport and translation of mRNAs of proteins involved in synaptic plasticity in neurons and cell proliferation and migration in multiple cell types. Binds directly and selectively to MYC and CCND2 RNAs. In neuronal cells, directly binds to several mRNAs associated with RNA granules, including BDNF, CAMK2A, CREB1, MAP2, NTRK2 mRNAs, as well as to GRIN1 and KPNB1 mRNAs, but not to rRNAs.',NULL,NULL,NULL,NULL,NULL),(10985,'UniProt Function',NULL,13180,NULL,'Promotes phosphorylation of the Wnt coreceptor LRP6, leading to increased activity of the canonical Wnt signaling pathway (PubMed:18762581). Faciliates constitutive LRP6 phosphorylation by CDK14/CCNY during G2/M stage of the cell cycle, which may potentiate cells for Wnt signaling (PubMed:27821587). May regulate the transport and translation of mRNAs, modulating for instance the expression of proteins involved in synaptic plasticity in neurons (By similarity). Involved in regulation of growth as erythroblasts shift from a highly proliferative state towards their terminal phase of differentiation (PubMed:14593112). May be involved in apoptosis (PubMed:14593112).',NULL,NULL,NULL,NULL,NULL),(10986,'UniProt Function',NULL,13181,NULL,'Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during cerebellar development. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles (By similarity).',NULL,NULL,NULL,NULL,NULL),(10987,'UniProt Function',NULL,13183,NULL,'Methylates (mono- and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in several proteins involved in DNA packaging, transcription regulation, pre-mRNA splicing, and mRNA stability. Recruited to promoters upon gene activation together with histone acetyltransferases from EP300/P300 and p160 families, methylates histone H3 at \'Arg-17\' (H3R17me), forming mainly asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling. During nuclear hormone receptor activation and TCF7L2/TCF4 activation, acts synergically with EP300/P300 and either one of the p160 histone acetyltransferases NCOA1/SRC1, NCOA2/GRIP1 and NCOA3/ACTR or CTNNB1/beta-catenin to activate transcription. During myogenic transcriptional activation, acts together with NCOA3/ACTR as a coactivator for MEF2C. During monocyte inflammatory stimulation, acts together with EP300/P300 as a coactivator for NF-kappa-B. Acts as coactivator for PPARG, promotes adipocyte differentiation and the accumulation of brown fat tissue. Plays a role in the regulation of pre-mRNA alternative splicing by methylation of splicing factors. Also seems to be involved in p53/TP53 transcriptional activation. Methylates EP300/P300, both at \'Arg-2142\', which may loosen its interaction with NCOA2/GRIP1, and at \'Arg-580\' and \'Arg-604\' in the KIX domain, which impairs its interaction with CREB and inhibits CREB-dependent transcriptional activation. Also methylates arginine residues in RNA-binding proteins PABPC1, ELAVL1 and ELAV4, which may affect their mRNA-stabilizing properties and the half-life of their target mRNAs.',NULL,NULL,NULL,NULL,NULL),(10988,'UniProt Function',NULL,13184,NULL,'Adapter protein that plays a key role in innate immune response to a number of intracellular pathogens, such as C.albicans and L.monocytogenes. Is at the crossroads of ITAM-tyrosine kinase and the Toll-like receptors (TLR) and NOD2 signaling pathways. Probably controls various innate immune response pathways depending on the intracellular pathogen. In response to L.monocytogenes infection, acts by connecting NOD2 recognition of peptidoglycan to downstream activation of MAP kinases (MAPK) without activating NF-kappa-B. Also involved in activation of myeloid cells via classical ITAM-associated receptors and TLR: required for TLR-mediated activation of MAPK, while it is not required for TLR-induced activation of NF-kappa-B (By similarity). Controls CLEC7A (dectin-1)-mediated myeloid cell activation induced by the yeast cell wall component zymosan, leading to cytokine production and innate anti-fungal immunity: acts by regulating BCL10-MALT1-mediated NF-kappa-B activation pathway. Activates NF-kappa-B via BCL10. In response to the hyphal form of C.albicans, mediates CLEC6A (dectin-2)-induced I-kappa-B kinase ubiquitination, leading to NF-kappa-B activation via interaction with BCL10. In response to fungal infection, may be required for the development and subsequent differentiation of interleukin 17-producing T helper (TH-17) cells.',NULL,NULL,NULL,NULL,NULL),(10989,'UniProt Function',NULL,13185,NULL,'Calcium-binding protein. May play a role in cellular signaling events (Potential).',NULL,NULL,NULL,NULL,NULL),(10990,'UniProt Function',NULL,13190,NULL,'Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides. Catalyzes the hydrolysis of dipeptides with unsubstituted terminals into amino acids. May play a role in the liberation of thyroxine hormone from its thyroglobulin (Tg) precursor.',NULL,NULL,NULL,NULL,NULL),(10991,'UniProt Function',NULL,13193,NULL,'Promotes the degradation of p53/TP53 protein and inhibits its transactivity.',NULL,NULL,NULL,NULL,NULL),(10992,'UniProt Function',NULL,13194,NULL,'Component of heterochromatin that recognizes and binds histone H3 tails methylated at \'Lys-9\' (H3K9me), leading to epigenetic repression. In contrast, it is excluded from chromatin when \'Tyr-41\' of histone H3 is phosphorylated (H3Y41ph). Can interact with lamin-B receptor (LBR). This interaction can contribute to the association of the heterochromatin with the inner nuclear membrane. Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins.',NULL,NULL,NULL,NULL,NULL),(10993,'UniProt Function',NULL,13195,NULL,'Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate (Probable). Can mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2 and ATP8B4 from the ER to the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(10994,'UniProt Function',NULL,13197,NULL,'Acts as a key regulator of dendritic field orientation during development of sensory cortex. Also directs dendrites toward active axon terminals when ectopically expressed (By similarity).',NULL,NULL,NULL,NULL,NULL),(10995,'UniProt Function',NULL,13198,NULL,'Lymphocyte inhibitory receptor which inhibits lymphocytes during immune response.',NULL,NULL,NULL,NULL,NULL),(10996,'UniProt Function',NULL,13199,NULL,'S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 \'Lys-79\' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492).',NULL,NULL,NULL,NULL,NULL),(10997,'UniProt Function',NULL,13201,NULL,'Plays a role in microtubule organization.',NULL,NULL,NULL,NULL,NULL),(10998,'UniProt Function',NULL,13203,NULL,'Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter. Also mediates enhanced MHC class I transcription; the promoter element requirements for CIITA-mediated transcription are distinct from those of constitutive MHC class I transcription, and CIITA can functionally replace TAF1 at these genes. Exhibits intrinsic GTP-stimulated acetyltransferase activity. Exhibits serine/threonine protein kinase activity: can phosphorylate the TFIID component TAF7, the RAP74 subunit of the general transcription factor TFIIF, histone H2B at \'Ser-37\' and other histones (in vitro).',NULL,NULL,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (10999,'UniProt Function',NULL,13204,NULL,'IFN-induced antiviral host restriction factor which efficiently blocks the release of diverse mammalian enveloped viruses by directly tethering nascent virions to the membranes of infected cells. Acts as a direct physical tether, holding virions to the cell membrane and linking virions to each other. The tethered virions can be internalized by endocytosis and subsequently degraded or they can remain on the cell surface. In either case, their spread as cell-free virions is restricted. Its target viruses belong to diverse families, including retroviridae: human immunodeficiency virus type 1 (HIV-1), human immunodeficiency virus type 2 (HIV-2), simian immunodeficiency viruses (SIVs), equine infectious anemia virus (EIAV), feline immunodeficiency virus (FIV), prototype foamy virus (PFV), Mason-Pfizer monkey virus (MPMV), human T-cell leukemia virus type 1 (HTLV-1), Rous sarcoma virus (RSV) and murine leukemia virus (MLV), flavivirideae: hepatitis C virus (HCV), filoviridae: ebola virus (EBOV) and marburg virus (MARV), arenaviridae: lassa virus (LASV) and machupo virus (MACV), herpesviridae: kaposis sarcoma-associated herpesvirus (KSHV), rhabdoviridae: vesicular stomatitis virus (VSV), orthomyxoviridae: influenza A virus, and paramyxoviridae: nipah virus. Can inhibit cell surface proteolytic activity of MMP14 causing decreased activation of MMP15 which results in inhibition of cell growth and migration. Can stimulate signaling by LILRA4/ILT7 and consequently provide negative feedback to the production of IFN by plasmacytoid dendritic cells in response to viral infection (PubMed:19564354, PubMed:26172439). Plays a role in the organization of the subapical actin cytoskeleton in polarized epithelial cells. Isoform 1 and isoform 2 are both effective viral restriction factors but have differing antiviral and signaling activities (PubMed:23028328, PubMed:26172439). Isoform 2 is resistant to HIV-1 Vpu-mediated degradation and restricts HIV-1 viral budding in the presence of Vpu (PubMed:23028328, PubMed:26172439). Isoform 1 acts as an activator of NF-kappa-B and this activity is inhibited by isoform 2 (PubMed:23028328).',NULL,NULL,NULL,NULL,NULL),(11000,'UniProt Function',NULL,13205,NULL,'May be involved in inflammatory process. May regulate cell architecture and adhesion.',NULL,NULL,NULL,NULL,NULL),(11001,'UniProt Function',NULL,13206,NULL,'Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells.',NULL,NULL,NULL,NULL,NULL),(11002,'UniProt Function',NULL,13207,NULL,'Participates in TNF-alpha-induced blockade of glucocorticoid receptor (GR) transactivation at the nuclear receptor coactivator level, upstream and independently of NF-kappa-B. Suppresses both NCOA2- and NCOA3-induced enhancement of GR transactivation. Involved in TNF-alpha-induced activation of NF-kappa-B via a TRAF2-dependent pathway. Acts as a downstream mediator for CASP8-induced activation of NF-kappa-B. Required for the activation of CASP8 in FAS-mediated apoptosis. Required for histone gene transcription and progression through S phase.',NULL,NULL,NULL,NULL,NULL),(11003,'UniProt Function',NULL,13213,NULL,'Anti-apoptotic protein that modulates a caspase-10 dependent mitochondrial caspase-3/9 feedback amplification loop.',NULL,NULL,NULL,NULL,NULL),(11004,'UniProt Function',NULL,13216,NULL,'May function as a regulator of both motility- and head-associated functions such as capacitation and the acrosome reaction. Isoform 1 binds calcium in vitro. Isoform 2 and isoform 6 probably bind calcium. Isoform 3 and isoform 5 do not bind calcium in vitro. Isoform 4 probably does not bind calcium.',NULL,NULL,NULL,NULL,NULL),(11005,'UniProt Function',NULL,13217,NULL,'Regulatory subunit of L-type calcium channels (PubMed:1309651, PubMed:8107964, PubMed:15615847). Regulates the activity of L-type calcium channels that contain CACNA1A as pore-forming subunit (By similarity). Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit and increases the presence of the channel complex at the cell membrane (PubMed:15615847). Required for functional expression L-type calcium channels that contain CACNA1D as pore-forming subunit (PubMed:1309651). Regulates the activity of L-type calcium channels that contain CACNA1B as pore-forming subunit (PubMed:8107964).',NULL,NULL,NULL,NULL,NULL),(11006,'UniProt Function',NULL,13218,NULL,'May be required for replication-independent chromatin assembly. May serve as a negative regulator of T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent on both PKC and calcium signals. Acts as a negative regulator of p53/TP53 by keeping p53 in an inactive state on chromatin at promoters of a subset of it\'s target genes.',NULL,NULL,NULL,NULL,NULL),(11007,'UniProt Function',NULL,13219,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(11008,'UniProt Function',NULL,13220,NULL,'Reversible hydration of carbon dioxide.',NULL,NULL,NULL,NULL,NULL),(11009,'UniProt Function',NULL,13221,NULL,'Complex that is thought to mediate chromatin assembly in DNA replication and DNA repair. Assembles histone octamers onto replicating DNA in vitro. CAF-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones H3 and H4 to replicating DNA; histones H2A/H2B can bind to this chromatin precursor subsequent to DNA replication to complete the histone octamer.',NULL,NULL,NULL,NULL,NULL),(11010,'UniProt Function',NULL,13222,NULL,'Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3\',5\'-cyclic nucleotide phosphodiesterase.',NULL,NULL,NULL,NULL,NULL),(11011,'UniProt Function',NULL,13223,NULL,'Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the \'high-voltage activated\' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines.',NULL,NULL,NULL,NULL,NULL),(11012,'UniProt Function',NULL,13224,NULL,'Binds to bacterial lipopolysaccharides (LPS), has antibacterial activity.',NULL,NULL,NULL,NULL,NULL),(11013,'UniProt Function',NULL,13225,NULL,'Calcium-regulated non-lysosomal thiol-protease.',NULL,NULL,NULL,NULL,NULL),(11014,'UniProt Function',NULL,13226,NULL,'Calcium-regulated non-lysosomal thiol-protease. Involved in membrane trafficking in the gastric surface mucus cells (pit cells) and may involve the membrane trafficking of mucus cells via interactions with coat protein. Proteolytically cleaves the beta-subunit of coatomer complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(11015,'UniProt Function',NULL,13227,NULL,'Calcium-regulated non-lysosomal thiol-protease.',NULL,NULL,NULL,NULL,NULL),(11016,'UniProt Function',NULL,13228,NULL,'Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.',NULL,NULL,NULL,NULL,NULL),(11017,'UniProt Function',NULL,13229,NULL,'Important role in the capacity of milk to transport calcium phosphate.',NULL,NULL,NULL,NULL,NULL),(11018,'UniProt Function',NULL,13229,NULL,'Casoxin D acts as opioid antagonist and has vasorelaxing activity mediated by bradykinin B1 receptors.',NULL,NULL,NULL,NULL,NULL),(11019,'UniProt Function',NULL,13230,NULL,'AMP deaminase plays a critical role in energy metabolism.',NULL,NULL,NULL,NULL,NULL),(11020,'UniProt Function',NULL,13231,NULL,'Plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under conditions of cellular stress (PubMed:28302725). Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(11021,'UniProt Function',NULL,13233,NULL,'Binds to TEK/TIE2, modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2. Promotes endothelial cell survival, migration and angiogenesis.',NULL,NULL,NULL,NULL,NULL),(11022,'UniProt Function',NULL,13234,NULL,'Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin.',NULL,NULL,NULL,NULL,NULL),(11023,'UniProt Function',NULL,13237,NULL,'Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.',NULL,NULL,NULL,NULL,NULL),(11024,'UniProt Function',NULL,13238,NULL,'Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.',NULL,NULL,NULL,NULL,NULL),(11025,'UniProt Function',NULL,13239,NULL,'Protein with hypoxia-induced expression in endothelial cells. May act as a regulator of angiogenesis and modulate tumorigenesis. Inhibits proliferation, migration, and tubule formation of endothelial cells and reduces vascular leakage. May exert a protective function on endothelial cells through an endocrine action. It is directly involved in regulating glucose homeostasis, lipid metabolism, and insulin sensitivity. In response to hypoxia, the unprocessed form of the protein accumulates in the subendothelial extracellular matrix (ECM). The matrix-associated and immobilized unprocessed form limits the formation of actin stress fibers and focal contacts in the adhering endothelial cells and inhibits their adhesion. It also decreases motility of endothelial cells and inhibits the sprouting and tube formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(11026,'UniProt Function',NULL,13240,NULL,'Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. May play a role in colorectal tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(11027,'UniProt Function',NULL,13241,NULL,'Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA (PubMed:10531356, PubMed:11152681, PubMed:11747828, PubMed:12411503, PubMed:15737618, PubMed:17709427, PubMed:20159986, PubMed:20810653, PubMed:21258366, PubMed:21917714, PubMed:22269951, PubMed:21081503). Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles (PubMed:12411503, PubMed:11747828, PubMed:17709427). Methylates SUPT5H and may regulate its transcriptional elongation properties (PubMed:12718890). Mono- and dimethylates arginine residues of myelin basic protein (MBP) in vitro. May play a role in cytokine-activated transduction pathways. Negatively regulates cyclin E1 promoter activity and cellular proliferation. Methylates histone H2A and H4 \'Arg-3\' during germ cell development. Methylates histone H3 \'Arg-8\', which may repress transcription. Methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-containing proteins and subsequent localization to the meiotic nuage (By similarity). Methylates RPS10. Attenuates EGF signaling through the MAPK1/MAPK3 pathway acting at 2 levels. First, monomethylates EGFR; this enhances EGFR \'Tyr-1197\' phosphorylation and PTPN6 recruitment, eventually leading to reduced SOS1 phosphorylation (PubMed:21917714, PubMed:21258366). Second, methylates RAF1 and probably BRAF, hence destabilizing these 2 signaling proteins and reducing their catalytic activity (PubMed:21917714). Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation. Methylates HOXA9 (PubMed:22269951). Methylates and regulates SRGAP2 which is involved in cell migration and differentiation (PubMed:20810653). Acts as a transcriptional corepressor in CRY1-mediated repression of the core circadian component PER1 by regulating the H4R3 dimethylation at the PER1 promoter (By similarity). Methylates GM130/GOLGA2, regulating Golgi ribbon formation (PubMed:20421892). Methylates H4R3 in genes involved in glioblastomagenesis in a CHTOP- and/or TET1-dependent manner (PubMed:25284789). Symmetrically methylates POLR2A, a modification that allows the recruitment to POLR2A of proteins including SMN1/SMN2 and SETX. This is required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination (PubMed:26700805). Along with LYAR, binds the promoter of gamma-globin HBG1/HBG2 and represses its expression (PubMed:25092918). Symmetrically methylates NCL (PubMed:21081503).',NULL,NULL,NULL,NULL,NULL),(11028,'UniProt Function',NULL,13242,NULL,'Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable).',NULL,NULL,NULL,NULL,NULL),(11029,'UniProt Function',NULL,13243,NULL,'Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma (PubMed:18201179, PubMed:22510806). Plays a multifaceted role in triglyceride homeostasis (PubMed:18201179, PubMed:22510806). Intracellularly, promotes hepatic very low density lipoprotein 1 (VLDL1) assembly and secretion; extracellularly, attenuates hydrolysis and clearance of triglyceride-rich lipoproteins (TRLs) (PubMed:18201179, PubMed:22510806). Impairs the lipolysis of TRLs by inhibiting lipoprotein lipase and the hepatic uptake of TRLs by remnant receptors (PubMed:18201179, PubMed:22510806). Formed of several curved helices connected via semiflexible hinges, so that it can wrap tightly around the curved micelle surface and easily adapt to the different diameters of its natural binding partners (PubMed:18408013).',NULL,NULL,NULL,NULL,NULL),(11030,'UniProt Function',NULL,13244,NULL,'Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(11031,'UniProt Function',NULL,13245,NULL,'Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.',NULL,NULL,NULL,NULL,NULL),(11032,'UniProt Function',NULL,13246,NULL,'Involved in modulating alternative pre-mRNA splicing with either 5\' distal site activation or preferential use of 3\' proximal site. In case of infection by Herpes simplex virus (HSVI), may act as a splicing inhibitor of HSVI pre-mRNA.',NULL,NULL,NULL,NULL,NULL),(11033,'UniProt Function',NULL,13248,NULL,'May play a role in the control of cellular aging and survival.',NULL,NULL,NULL,NULL,NULL),(11034,'UniProt Function',NULL,13249,NULL,'Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Inhibits GAP activity of MYO9B probably through competetive RhoA binding. The function in the nucleus remains to be determined.',NULL,NULL,NULL,NULL,NULL),(11035,'UniProt Function',NULL,13250,NULL,'Seems to have a role in zinc absorption and may function as an intracellular zinc transport protein.',NULL,NULL,NULL,NULL,NULL),(11036,'UniProt Function',NULL,13252,NULL,'Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking.',NULL,NULL,NULL,NULL,NULL),(11037,'UniProt Function',NULL,13253,NULL,'Induces cartilage and bone formation (PubMed:3201241). Stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A- ATF4 pathway. BMP2 activation of EIF2AK3 stimulates phosphorylation of EIF2A which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation. In addition stimulates TMEM119, which upregulates the expression of ATF4 (PubMed:24362451).',NULL,NULL,NULL,NULL,NULL),(11038,'UniProt Function',NULL,13254,NULL,'Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes.',NULL,NULL,NULL,NULL,NULL),(11039,'UniProt Function',NULL,13255,NULL,'Anti-apoptotic protein which can regulate cell death by controlling caspases and by acting as an E3 ubiquitin-protein ligase. Has an unusual ubiquitin conjugation system in that it could combine in a single polypeptide, ubiquitin conjugating (E2) with ubiquitin ligase (E3) activity, forming a chimeric E2/E3 ubiquitin ligase. Its tragets include CASP9 and DIABLO/SMAC. Acts as an inhibitor of CASP3, CASP7 and CASP9. Important regulator for the final stages of cytokinesis. Crucial for normal vesicle targeting to the site of abscission, but also for the integrity of the midbody and the midbody ring, and its striking ubiquitin modification.',NULL,NULL,NULL,NULL,NULL),(11040,'UniProt Function',NULL,13256,NULL,'Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking.',NULL,NULL,NULL,NULL,NULL),(11041,'UniProt Function',NULL,13257,NULL,'Required for proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles.',NULL,NULL,NULL,NULL,NULL),(11042,'UniProt Function',NULL,13258,NULL,'Isoform 1: Apoptosis regulator that functions through different apoptotic signaling pathways (PubMed:27076518, PubMed:15102863, PubMed:20673843). Plays a roles as pro-apoptotic protein that positively regulates intrinsic apoptotic process in a BAX- and BAK1-dependent manner or in a BAX- and BAK1-independent manner (PubMed:27076518, PubMed:15102863). In response to endoplasmic reticulum stress promotes mitochondrial apoptosis through downstream BAX/BAK1 activation and positive regulation of PERK-mediated unfolded protein response (By similarity). Activates apoptosis independently of heterodimerization with survival-promoting BCL2 and BCL2L1 through induction of mitochondrial outer membrane permeabilization, in a BAX- and BAK1-independent manner, in response to inhibition of ERAD-proteasome degradation system, resulting in cytochrome c release (PubMed:27076518). In response to DNA damage, mediates intrinsic apoptotic process in a TP53-dependent manner (PubMed:15102863). Plays a role in granulosa cell apoptosis by CASP3 activation (PubMed:20673843). Plays a roles as anti-apoptotic protein during neuronal apoptotic process, by negatively regulating poly ADP-ribose polymerase-dependent cell death through regulation of neuronal calcium homeostasis and mitochondrial bioenergetics in response to NMDA excitation (By similarity). In addition to its role in apoptosis, may regulate trophoblast cell proliferation during the early stages of placental development, by acting on G1/S transition through regulation of CCNE1 expression (PubMed:19942931). May also play a role as an inducer of autophagy by disrupting interaction between MCL1 and BECN1 (PubMed:24113155).',NULL,NULL,NULL,NULL,NULL),(11043,'UniProt Function',NULL,13258,NULL,'Isoform 2: Pro-apoptotic molecule exerting its function through the mitochondrial pathway.',NULL,NULL,NULL,NULL,NULL),(11044,'UniProt Function',NULL,13259,NULL,'Apoptosis-inducing protein that can overcome BCL2 suppression. May play a role in repartitioning calcium between the two major intracellular calcium stores in association with BCL2. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix. Plays an important role in the calprotectin (S100A8/A9)-induced cell death pathway.',NULL,NULL,NULL,NULL,NULL),(11045,'UniProt Function',NULL,13260,NULL,'Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on \'Lys-4\' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors.',NULL,NULL,NULL,NULL,NULL),(11046,'UniProt Function',NULL,13261,NULL,'The cytotoxic action of BPI is limited to many species of Gram-negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa.',NULL,NULL,NULL,NULL,NULL),(11047,'UniProt Function',NULL,13262,NULL,'On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Binds to BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6.',NULL,NULL,NULL,NULL,NULL),(11048,'UniProt Function',NULL,13263,NULL,'Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of \'Lys-120\' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 \'Lys-4\' and \'Lys-79\' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role inb histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradictory. Required for transcriptional activation of Hox genes. Recruited to the MDM2 promoter, probably by being recruited by p53/TP53, and thereby acts as a transcriptional coactivator. Mediates the polyubiquitination of isoform 2 of PA2G4 in cancer cells leading to its proteasome-mediated degradation.',NULL,NULL,NULL,NULL,NULL),(11049,'UniProt Function',NULL,13264,NULL,'Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of \'Lys-120\' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 \'Lys-4\' and \'Lys-79\' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role in histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradictory. Required for transcriptional activation of Hox genes.',NULL,NULL,NULL,NULL,NULL),(11050,'UniProt Function',NULL,13265,NULL,'Metalloprotease that specifically cleaves \'Lys-63\'-linked polyubiquitin chains (PubMed:19214193, PubMed:20656690, PubMed:24075985, PubMed:26344097). Does not have activity toward \'Lys-48\'-linked polyubiquitin chains. Component of the BRCA1-A complex, a complex that specifically recognizes \'Lys-63\'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). In the BRCA1-A complex, it specifically removes \'Lys-63\'-linked ubiquitin on histones H2A and H2AX, antagonizing the RNF8-dependent ubiquitination at double-strand breaks (DSBs) (PubMed:20656690). Catalytic subunit of the BRISC complex, a multiprotein complex that specifically cleaves \'Lys-63\'-linked ubiquitin in various substrates (PubMed:20656690, PubMed:24075985, PubMed:26344097, PubMed:26195665). Mediates the specific \'Lys-63\'-specific deubiquitination associated with the COP9 signalosome complex (CSN), via the interaction of the BRISC complex with the CSN complex (PubMed:19214193). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985, PubMed:26344097). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985).',NULL,NULL,NULL,NULL,NULL),(11051,'UniProt Function',NULL,13267,NULL,'Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene.',NULL,NULL,NULL,NULL,NULL),(11052,'UniProt Function',NULL,13268,NULL,'Acts both as coactivator and as corepressor. May play a role in chromatin remodeling. Activator of the Wnt signaling pathway in a DVL1-dependent manner by negatively regulating the GSK3B phosphotransferase activity. Induces dephosphorylation of GSK3B at \'Tyr-216\'. Down-regulates TRIM24-mediated activation of transcriptional activation by AR (By similarity). Transcriptional corepressor that down-regulates the expression of target genes. Binds to target promoters, leading to increased histone H3 acetylation at \'Lys-9\' (H3K9ac). Binds to the ESR1 promoter. Recruits BRCA1 and POU2F1 to the ESR1 promoter. Coactivator for TP53-mediated activation of transcription of a set of target genes. Required for TP53-mediated cell-cycle arrest in response to oncogene activation. Promotes acetylation of TP53 at \'Lys-382\', and thereby promotes efficient recruitment of TP53 to target promoters. Inhibits cell cycle progression from G1 to S phase.',NULL,NULL,NULL,NULL,NULL),(11053,'UniProt Function',NULL,13269,NULL,'Shows marked antiproliferative activity, being able to induce G(1) arrest.',NULL,NULL,NULL,NULL,NULL),(11054,'UniProt Function',NULL,13270,NULL,'Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity).',NULL,NULL,NULL,NULL,NULL),(11055,'UniProt Function',NULL,13271,NULL,'Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058). May play a role in BRD4-mediated gene transcription (PubMed:21555454).',NULL,NULL,NULL,NULL,NULL),(11056,'UniProt Function',NULL,13272,NULL,'May function as transcriptional repressor. May modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types. May be important for rod bipolar cell maturation (By similarity).',NULL,NULL,NULL,NULL,NULL),(11057,'UniProt Function',NULL,13273,NULL,'Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 heterodimer by competing for the binding to E-box elements (5\'-CACGTG-3\') found within the promoters of its target genes. Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2. Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA/B/G, NR1H3/LXRA, NR1H4 and VDR transactivation activity.',NULL,NULL,NULL,NULL,NULL),(11058,'UniProt Function',NULL,13275,NULL,'Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots \'circa\' (about) and \'diem\' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for \'timegivers\'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5\'-CACGTG-3\') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. The CLOCK-ARNTL2/BMAL2 heterodimer activates the transcription of SERPINE1/PAI1 and BHLHE40/DEC1.',NULL,NULL,NULL,NULL,NULL),(11059,'UniProt Function',NULL,13276,NULL,'Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins. Probably acts together with NFU1 (PubMed:27532772).',NULL,NULL,NULL,NULL,NULL),(11060,'UniProt Function',NULL,13277,NULL,'As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor.',NULL,NULL,NULL,NULL,NULL),(11061,'UniProt Function',NULL,13279,NULL,'Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity). Signaling protein involved in regulation of thermogenesis and energy balance. Proposed to increase the peripheral response of brown adipose tissue (BAT) to adrenergic stimulation while acting centrally in the hypothalamus to increase sympathetic output to BAT.',NULL,NULL,NULL,NULL,NULL),(11062,'UniProt Function',NULL,13280,NULL,'Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes.',NULL,NULL,NULL,NULL,NULL),(11063,'UniProt Function',NULL,13281,NULL,'On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction.',NULL,NULL,NULL,NULL,NULL),(11064,'UniProt Function',NULL,13282,NULL,'Converts adenosine 3\'-phosphate 5\'-phosphosulfate (PAPS) to adenosine 5\'-phosphosulfate (APS) and 3\'(2\')-phosphoadenosine 5\'- phosphate (PAP) to AMP. Has 1000-fold lower activity towards inositol 1,4-bisphosphate (Ins(1,4)P2) and inositol 1,3,4-trisphosphate (Ins(1,3,4)P3), but does not hydrolyze Ins(1)P, Ins(3,4)P2, Ins(1,3,4,5)P4 or InsP6.',NULL,NULL,NULL,NULL,NULL),(11065,'UniProt Function',NULL,13283,NULL,'Involved in DNA damage response; activates kinases ATM, SMC1A and PRKDC by modulating their phosphorylation status following ionizing radiation (IR) stress (PubMed:16452482, PubMed:22977523). Plays a role in regulating mitochondrial function and cell proliferation (PubMed:25070371). Required for protein stability of MTOR and MTOR-related proteins, and cell cycle progress by growth factors (PubMed:25657994).',NULL,NULL,NULL,NULL,NULL),(11066,'UniProt Function',NULL,13284,NULL,'Required for biogenesis of the 60S ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(11067,'UniProt Function',NULL,13285,NULL,'Plays a role in T-cell responses in the adaptive immune response.',NULL,NULL,NULL,NULL,NULL),(11068,'UniProt Function',NULL,13287,NULL,'Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter.',NULL,NULL,NULL,NULL,NULL),(11069,'UniProt Function',NULL,13288,NULL,'Growth factor that binds to EGFR, ERBB4 and other EGF receptor family members. Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells.',NULL,NULL,NULL,NULL,NULL),(11070,'UniProt Function',NULL,13290,NULL,'Enhances histone H4 gene transcription but does not seem to bind DNA directly.',NULL,NULL,NULL,NULL,NULL),(11071,'UniProt Function',NULL,13294,NULL,'Lipid-binding protein that transports phosphatidylinositol, the precursor of phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), from its site of synthesis in the endoplasmic reticulum to the cell membrane (PubMed:28209843). It thereby maintains the pool of cell membrane phosphoinositides, which are degraded during phospholipase C (PLC) signaling (PubMed:28209843). Plays a key role in the coordination of Ca(2+) and phosphoinositide signaling: localizes to sites of contact between the endoplasmic reticulum and the cell membrane, where it tethers the two bilayers (PubMed:28209843). In response to elevation of cytosolic Ca(2+), it is phosphorylated at its C-terminus and dissociates from the cell membrane, abolishing phosphatidylinositol transport to the cell membrane (PubMed:28209843). Positively regulates insulin secretion in response to glucose: phosphatidylinositol transfer to the cell membrane allows replenishment of PI(4,5)P2 pools and calcium channel opening, priming a new population of insulin granules (PubMed:28209843).',NULL,NULL,NULL,NULL,NULL),(11072,'UniProt Function',NULL,13295,NULL,'Required for insulin-stimulated glucose transport and glucose transporter SLC2A4/GLUT4 translocation from intracellular glucose storage vesicle (GSV) to the plasma membrane (PM) in adipocytes. Binds phospholipid membranes in a calcium-dependent manner and is necessary for the optimal membrane fusion between SLC2A4/GLUT4 GSV and the PM.',NULL,NULL,NULL,NULL,NULL),(11073,'UniProt Function',NULL,13296,NULL,'Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the \'high-voltage activated\' (HVA) group and are blocked by nickel. They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing.',NULL,NULL,NULL,NULL,NULL),(11074,'UniProt Function',NULL,13297,NULL,'Inhibits calcium-dependent inactivation of L-type calcium channel and shifts voltage dependence of activation to more depolarized membrane potentials. Involved in the transmission of light signals (By similarity).',NULL,NULL,NULL,NULL,NULL),(11075,'UniProt Function',NULL,13299,NULL,'Isoform 1: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the \'high-voltage activated\' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization.',NULL,NULL,NULL,NULL,NULL),(11076,'UniProt Function',NULL,13299,NULL,'Isoform 4: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exhibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations.',NULL,NULL,NULL,NULL,NULL),(11077,'UniProt Function',NULL,13299,NULL,'Isoform 6: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations.',NULL,NULL,NULL,NULL,NULL),(11078,'UniProt Function',NULL,13300,NULL,'The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel.',NULL,NULL,NULL,NULL,NULL),(11079,'UniProt Function',NULL,13301,NULL,'Involved in the cell-cell adhesion. Has both calcium-independent homophilic cell-cell adhesion activity and calcium-independent heterophilic cell-cell adhesion activity with IGSF4, NECTIN1 and NECTIN3. Interaction with EPB41L1 may regulate structure or function of cell-cell junctions (By similarity).',NULL,NULL,NULL,NULL,NULL),(11080,'UniProt Function',NULL,13302,NULL,'Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at the G1/S phase transition.',NULL,NULL,NULL,NULL,NULL),(11081,'UniProt Function',NULL,13303,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(11082,'UniProt Function',NULL,13304,NULL,'Involved in 2 distinct lysosomal degradation pathways: acts as a regulator of autophagy and as a regulator of G-protein coupled receptors turnover. Regulates degradation in lysosomes of a variety of G-protein coupled receptors via its interaction with GPRASP1/GASP1.',NULL,NULL,NULL,NULL,NULL),(11083,'UniProt Function',NULL,13305,NULL,'Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1/2 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer by competing for the binding to E-box elements (5\'-CACGTG-3\') found within the promoters of its target genes. Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2. Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA and NR1H3/LXRA transactivation activity. May be involved in the regulation of chondrocyte differentiation via the cAMP pathway.',NULL,NULL,NULL,NULL,NULL),(11084,'UniProt Function',NULL,13307,NULL,'Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process.',NULL,NULL,NULL,NULL,NULL),(11085,'UniProt Function',NULL,13308,NULL,'The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B-aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity.',NULL,NULL,NULL,NULL,NULL),(11086,'UniProt Function',NULL,13309,NULL,'Transcriptional activator (By similarity). Likely specific for squamous epithelium and for the constituent keratinocytes at a stage either prior to or at the very beginning of terminal differentiation (PubMed:8034748). Required for the maintenance of spermatogenesis (By similarity). May also play a role in the differentiation of oocytes and the early development of embryos (By similarity).',NULL,NULL,NULL,NULL,NULL),(11087,'UniProt Function',NULL,13310,NULL,'Catalyzes the formation of L-carnitine from gamma-butyrobetaine.',NULL,NULL,NULL,NULL,NULL),(11088,'UniProt Function',NULL,13311,NULL,'Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts in a CDC42-dependent manner.',NULL,NULL,NULL,NULL,NULL),(11089,'UniProt Function',NULL,13312,NULL,'Has strong antibacterial activity against P. aeruginosa.',NULL,NULL,NULL,NULL,NULL),(11090,'UniProt Function',NULL,13313,NULL,'Induces cartilage and bone formation.',NULL,NULL,NULL,NULL,NULL),(11091,'UniProt Function',NULL,13314,NULL,'Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation, when overexpressed in fibroblasts.',NULL,NULL,NULL,NULL,NULL),(11092,'UniProt Function',NULL,13315,NULL,'May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity).',NULL,NULL,NULL,NULL,NULL),(11093,'UniProt Function',NULL,13316,NULL,'Cleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD). Responsible for the proteolytic activation of lysyl oxidase LOX.',NULL,NULL,NULL,NULL,NULL),(11094,'UniProt Function',NULL,13317,NULL,'May be involved in osteoblast differentiation.',NULL,NULL,NULL,NULL,NULL),(11095,'UniProt Function',NULL,13318,NULL,'Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase.',NULL,NULL,NULL,NULL,NULL),(11096,'UniProt Function',NULL,13319,NULL,'General activator of RNA polymerase III transcription. Factor exclusively required for RNA polymerase III transcription of genes with promoter elements upstream of the initiation sites (PubMed:11040218, PubMed:11121026, PubMed:11564744, PubMed:26638071). Contributes to the regulation of gene expression; functions as activator in the absence of oxidative stress (PubMed:26638071). Down-regulates expression of target genes in response to oxidative stress (PubMed:26638071). Overexpression protects cells against apoptosis in response to oxidative stress (PubMed:26638071).',NULL,NULL,NULL,NULL,NULL),(11097,'UniProt Function',NULL,13320,NULL,'Involved in tumorigenesis and may function by stabilizing p53/TP53.',NULL,NULL,NULL,NULL,NULL),(11098,'UniProt Function',NULL,13322,NULL,'Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180).',NULL,NULL,NULL,NULL,NULL),(11099,'UniProt Function',NULL,13323,NULL,'DNA binding protein that function as transcriptional activator. Is essential for normal postnatal growth and nursing. Is an essential factor for neuronal neuropeptide Y and agouti-related peptide function and locomotory behavior in the control of energy balance (By similarity).',NULL,NULL,NULL,NULL,NULL),(11100,'UniProt Function',NULL,13324,NULL,'Plays a major role as an activator of AKT family members by inhibiting PPP2CA-mediated dephosphorylation, thereby keeping AKTs activated. Plays a role in preventing motor neuronal death and accelerating the growth of pancreatic beta cells.',NULL,NULL,NULL,NULL,NULL),(11101,'UniProt Function',NULL,13326,NULL,'Has a dual function in spindle-assembly checkpoint signaling and in promoting the establishment of correct kinetochore-microtubule (K-MT) attachments. Promotes the formation of stable end-on bipolar attachments. Necessary for kinetochore localization of BUB1. Regulates chromosome segregation during oocyte meiosis. The BUB1/BUB3 complex plays a role in the inhibition of anaphase-promoting complex or cyclosome (APC/C) when spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating its activator CDC20. This complex can also phosphorylate MAD1L1.',NULL,NULL,NULL,NULL,NULL),(11102,'UniProt Function',NULL,13328,NULL,'Overexpression impairs serum-induced cell cycle progression from the G0/G1 to S phase.',NULL,NULL,NULL,NULL,NULL),(11103,'UniProt Function',NULL,13329,NULL,'Testis-specific chromatin protein that specifically binds histone H4 acetylated at \'Lys-5\' and \'Lys-8\' (H4K5ac and H4K8ac, respectively) and plays a key role in spermatogenesis (PubMed:22464331, PubMed:22901802). Required in late pachytene spermatocytes: plays a role in meiotic and post-meiotic cells by binding to acetylated histones at the promoter of specific meiotic and post-meiotic genes, facilitating their activation at the appropriate time (PubMed:22901802). In the post-meiotic phase of spermatogenesis, binds to hyperacetylated histones and participates in their general removal from DNA (PubMed:22901802). Also recognizes and binds a subset of butyrylated histones: able to bind histone H4 butyrylated at \'Lys-8\' (H4K8ac), while it is not able to bind H4 butyrylated at \'Lys-5\' (H4K5ac) (By similarity). Also acts as a component of the splicing machinery in pachytene spermatocytes and round spermatids and participates in 3\'-UTR truncation of specific mRNAs in post-meiotic spermatids (By similarity). Required for chromocenter organization, a structure comprised of peri-centromeric heterochromatin.',NULL,NULL,NULL,NULL,NULL),(11104,'UniProt Function',NULL,13330,NULL,'May stimulate primary immune response. Acts on T-cell stimulated sub-optimally through the TCR/CD3 complex stimulating their proliferation and cytokine production.',NULL,NULL,NULL,NULL,NULL),(11105,'UniProt Function',NULL,13331,NULL,'Involved in the pre-mRNA splicing process (PubMed:28502770, PubMed:28076346). May play a role as regulator of AR transcriptional activity; may increase AR transcriptional activity (PubMed:25091737).',NULL,NULL,NULL,NULL,NULL),(11106,'UniProt Function',NULL,13332,NULL,'Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).',NULL,NULL,NULL,NULL,NULL),(11107,'UniProt Function',NULL,13333,NULL,'Forms calcium-sensitive chloride channels. Permeable to bicarbonate.',NULL,NULL,NULL,NULL,NULL),(11108,'UniProt Function',NULL,13334,NULL,'Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E-box occupancy by homodimers. May also negatively regulate bHLH-mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages. Binds to the E-box consensus sequence 5\'-CANNTG-3\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(11109,'UniProt Function',NULL,13335,NULL,'May have a role in sperm-egg fusion and maturation.',NULL,NULL,NULL,NULL,NULL),(11110,'UniProt Function',NULL,13336,NULL,'Negatively regulates bone density. Antagonizes the ability of certain osteogenic BMPs to induce osteoprogenitor differentitation and ossification.',NULL,NULL,NULL,NULL,NULL),(11111,'UniProt Function',NULL,13337,NULL,'Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins (By similarity). Probably acts together with the monothiol glutaredoxin GLRX5 (PubMed:27532772). May protect cells against oxidative stress (PubMed:22746225).',NULL,NULL,NULL,NULL,NULL),(11112,'UniProt Function',NULL,13338,NULL,'Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells.',NULL,NULL,NULL,NULL,NULL),(11113,'UniProt Function',NULL,13339,NULL,'May play a role in apoptosis. Isoform 1 seems to be the main initiator.',NULL,NULL,NULL,NULL,NULL),(11114,'UniProt Function',NULL,13340,NULL,'O-methyltransferase that specifically dimethylates the 5\' monophosphate of pre-miRNAs, acting as a negative regulator of miRNA processing. The 5\' monophosphate of pre-miRNAs is recognized by DICER1 and is required for pre-miRNAs processing: methylation at this position reduces the processing of pre-miRNAs by DICER1. Able to mediate methylation of pre-miR-145, as well as other pre-miRNAs.',NULL,NULL,NULL,NULL,NULL),(11115,'UniProt Function',NULL,13341,NULL,'Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts.',NULL,NULL,NULL,NULL,NULL),(11116,'UniProt Function',NULL,13342,NULL,'May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the cellular responses to LPS.',NULL,NULL,NULL,NULL,NULL),(11117,'UniProt Function',NULL,13343,NULL,'Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Phosphorylates MAP2K1, and thereby contributes to the MAP kinase signal transduction pathway.',NULL,NULL,NULL,NULL,NULL),(11118,'UniProt Function',NULL,13344,NULL,'Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.',NULL,NULL,NULL,NULL,NULL),(11119,'UniProt Function',NULL,13346,NULL,'Chromatin reader that recognizes and binds hyperacetylated chromatin and plays a role in the regulation of transcription, probably by chromatin remodeling and interaction with transcription factors (PubMed:18406326, PubMed:27105114). Regulates transcription by promoting the binding of the transcription factor GATA1 to its targets (By similarity).',NULL,NULL,NULL,NULL,NULL),(11120,'UniProt Function',NULL,13348,NULL,'Catalyzes the conversion of all-trans retinol (also called vitamin A1, the precursor of 11-cis retinal) to 3,4-didehydroretinol (also called vitamin A2, the precursor of 11-cis 3,4-didehydroretinal). Also acts on all-trans retinal and all-trans retinoic acid.',NULL,NULL,NULL,NULL,NULL),(11121,'UniProt Function',NULL,13353,NULL,'May promote cancer cell proliferation by controlling the G1 to S phase transition.',NULL,NULL,NULL,NULL,NULL),(11122,'UniProt Function',NULL,13356,NULL,'The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) (By similarity).',NULL,NULL,NULL,NULL,NULL),(11123,'UniProt Function',NULL,13357,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.',NULL,NULL,NULL,NULL,NULL),(11124,'UniProt Function',NULL,13358,NULL,'May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection.',NULL,NULL,NULL,NULL,NULL),(11125,'UniProt Function',NULL,13359,NULL,'Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport by recruiting the dynein-dynactin motor complex.',NULL,NULL,NULL,NULL,NULL),(11126,'UniProt Function',NULL,13360,NULL,'May play a role in CNS development by interacting with growth factors implicated in motor neuron differentiation and survival. May play a role in capillary formation and maintenance during angiogenesis. Modulates BMP activity by affecting its processing and delivery to the cell surface.',NULL,NULL,NULL,NULL,NULL),(11127,'UniProt Function',NULL,13361,NULL,'Protects against apoptosis mediated by BAX.',NULL,NULL,NULL,NULL,NULL),(11128,'UniProt Function',NULL,13362,NULL,'Serine hydrolase that catalyzes the hydrolytic activation of amino acid ester prodrugs of nucleoside analogs such as valacyclovir and valganciclovir. Activates valacyclovir to acyclovir. May play a role in detoxification processes. It is a specific alpha-amino acid ester hydrolase that prefers small, hydrophobic, and aromatic side chains and does not have a stringent requirement for the leaving group other than preferring a primary alcohol.',NULL,NULL,NULL,NULL,NULL),(11129,'UniProt Function',NULL,13363,NULL,'Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts.',NULL,NULL,NULL,NULL,NULL),(11130,'UniProt Function',NULL,13364,NULL,'May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity).',NULL,NULL,NULL,NULL,NULL),(11131,'UniProt Function',NULL,13366,NULL,'Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity).',NULL,NULL,NULL,NULL,NULL),(11132,'UniProt Function',NULL,13367,NULL,'Negatively regulates MAP kinase activation by limiting the formation of Raf/MEK complexes probably by inactivation of the KSR1 scaffold protein. Also acts as a Ras responsive E3 ubiquitin ligase that, on activation of Ras, is modified by auto-polyubiquitination resulting in the release of inhibition of Raf/MEK complex formation. May also act as a cytoplasmic retention protein with a role in regulating nuclear transport.',NULL,NULL,NULL,NULL,NULL),(11133,'UniProt Function',NULL,13368,NULL,'Participates in tumor necrosis factor-alpha (TNF)-induced cell death (PubMed:14592447). May be a target of Wnt/beta-catenin signaling in the liver (PubMed:20538055).',NULL,NULL,NULL,NULL,NULL),(11134,'UniProt Function',NULL,13370,NULL,'Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:27939640). Preferentially mediates histone H3-K23 acetylation (PubMed:27939640). Positively regulates the transcription of RUNX1 and RUNX2 (PubMed:18794358).',NULL,NULL,NULL,NULL,NULL),(11135,'UniProt Function',NULL,13372,NULL,'Role in sperm cell division, maturation, or function. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(11136,'UniProt Function',NULL,13374,NULL,'Adapter protein for the cul3 E3 ubiquitin-protein ligase complex (By similarity). Involved in late neuronal development and muscle formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(11137,'UniProt Function',NULL,13375,NULL,'Anti-proliferative protein.',NULL,NULL,NULL,NULL,NULL),(11138,'UniProt Function',NULL,13376,NULL,'Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression.',NULL,NULL,NULL,NULL,NULL),(11139,'UniProt Function',NULL,13377,NULL,'Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of checkpoint proteins at the kinetochore, being required for the subsequent localization of CENPF, BUB1B, CENPE and MAD2L1. Required for the kinetochore localization of PLK1. Required for centromeric enrichment of AUKRB in prometaphase. Plays an important role in defining SGO1 localization and thereby affects sister chromatid cohesion. Acts as a substrate for anaphase-promoting complex or cyclosome (APC/C) in complex with its activator CDH1 (APC/C-Cdh1). Necessary for ensuring proper chromosome segregation and binding to BUB3 is essential for this function. Can regulate chromosome segregation in a kinetochore-independent manner. Can phosphorylate BUB3. The BUB1-BUB3 complex plays a role in the inhibition of APC/C when spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating its activator CDC20. This complex can also phosphorylate MAD1L1. Kinase activity is essential for inhibition of APC/CCDC20 and for chromosome alignment but does not play a major role in the spindle-assembly checkpoint activity. Mediates cell death in response to chromosome missegregation and acts to suppress spontaneous tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(11140,'UniProt Function',NULL,13378,NULL,'Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis.',NULL,NULL,NULL,NULL,NULL),(11141,'UniProt Function',NULL,13379,NULL,'Required for the activation of AURKA at the onset of mitosis.',NULL,NULL,NULL,NULL,NULL),(11142,'UniProt Function',NULL,13380,NULL,'On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6.',NULL,NULL,NULL,NULL,NULL),(11143,'UniProt Function',NULL,13381,NULL,'Plays a role in T-cell responses in the adaptive immune response. Inhibits the release of IFNG from activated T-cells.',NULL,NULL,NULL,NULL,NULL),(11144,'UniProt Function',NULL,13382,NULL,'Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion. Phosphorylates CDK16, CDC25C, MAPT/TAU, PAK1 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at \'Thr-529\' and \'Ser-579\'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at \'Ser-642\' in postmitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. Plays a role in the regulation of the mitotic cell cycle progress and the onset of mitosis. Plays a role in the regulation of insulin secretion in response to elevated glucose levels, probably via phosphorylation of CDK16 and PAK1. While BRSK2 phosphorylated at Thr-174 can inhibit insulin secretion (PubMed:22798068), BRSK2 phosphorylated at Thr-260 can promote insulin secretion (PubMed:22669945). Regulates reorganization of the actin cytoskeleton. May play a role in the apoptotic response triggered by endoplasmic reticulum (ER) stress.',NULL,NULL,NULL,NULL,NULL),(11145,'UniProt Function',NULL,13383,NULL,'Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members. PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell linker protein BLNK. BTK acts as a platform to bring together a diverse array of signaling proteins and is implicated in cytokine receptor signaling pathways. Plays an important role in the function of immune cells of innate as well as adaptive immunity, as a component of the Toll-like receptors (TLR) pathway. The TLR pathway acts as a primary surveillance system for the detection of pathogens and are crucial to the activation of host defense. Especially, is a critical molecule in regulating TLR9 activation in splenic B-cells. Within the TLR pathway, induces tyrosine phosphorylation of TIRAP which leads to TIRAP degradation. BTK plays also a critical role in transcription regulation. Induces the activity of NF-kappa-B, which is involved in regulating the expression of hundreds of genes. BTK is involved on the signaling pathway linking TLR8 and TLR9 to NF-kappa-B. Transiently phosphorylates transcription factor GTF2I on tyrosine residues in response to BCR. GTF2I then translocates to the nucleus to bind regulatory enhancer elements to modulate gene expression. ARID3A and NFAT are other transcriptional target of BTK. BTK is required for the formation of functional ARID3A DNA-binding complexes. There is however no evidence that BTK itself binds directly to DNA. BTK has a dual role in the regulation of apoptosis.',NULL,NULL,NULL,NULL,NULL),(11146,'UniProt Function',NULL,13384,NULL,'Preferentially cleaves the synthetic substrate H-D-Leu-Thr-Arg-pNA compared to tosyl-Gly-Pro-Arg-pNA.',NULL,NULL,NULL,NULL,NULL),(11147,'UniProt Function',NULL,13385,NULL,'In brain, may be required for corpus callusum development.',NULL,NULL,NULL,NULL,NULL),(11148,'UniProt Function',NULL,13386,NULL,'Converts N-carbamoyl-beta-aminoisobutyrate and N-carbamoyl-beta-alanine (3-ureidopropanoate) to, respectively, beta-aminoisobutyrate and beta-alanine, ammonia and carbon dioxide.',NULL,NULL,NULL,NULL,NULL),(11149,'UniProt Function',NULL,13388,NULL,'Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production.',NULL,NULL,NULL,NULL,NULL),(11150,'UniProt Function',NULL,13390,NULL,'Component of the centrioles that acts as a positive regulator of centriole elongation (PubMed:24997988). Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation (PubMed:23769972). Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3.',NULL,NULL,NULL,NULL,NULL),(11151,'UniProt Function',NULL,13391,NULL,'Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages.',NULL,NULL,NULL,NULL,NULL),(11152,'UniProt Function',NULL,13396,NULL,'May be involved in membrane trafficking between endosomes and plasma membrane.',NULL,NULL,NULL,NULL,NULL),(11153,'UniProt Function',NULL,13400,NULL,'Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity.',NULL,NULL,NULL,NULL,NULL),(11154,'UniProt Function',NULL,13401,NULL,'Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the \'high-voltage activated\' (HVA) group.',NULL,NULL,NULL,NULL,NULL),(11155,'UniProt Function',NULL,13402,NULL,'Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8119293). Increases CACNA1B peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity). Increases CACNA1C peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity).',NULL,NULL,NULL,NULL,NULL),(11156,'UniProt Function',NULL,13403,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. This cadherin may play a important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions. It associates with alpha-catenin forming a link to the cytoskeleton. Acts in concert with KRIT1 to establish and maintain correct endothelial cell polarity and vascular lumen. These effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for activation of PRKCZ and for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction.',NULL,NULL,NULL,NULL,NULL),(11157,'UniProt Function',NULL,13404,NULL,'Reversible hydration of carbon dioxide.',NULL,NULL,NULL,NULL,NULL),(11158,'UniProt Function',NULL,13405,NULL,'Reversible hydration of carbon dioxide. Participates in pH regulation. May be involved in the control of cell proliferation and transformation. Appears to be a novel specific biomarker for a cervical neoplasia.',NULL,NULL,NULL,NULL,NULL),(11159,'UniProt Function',NULL,13406,NULL,'Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR). Recruited to promoters through its contact with the N-terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or coactivators, such as NCOA2. During ER-activation acts synergistically in combination with other NCOA2-binding proteins, such as EP300, CREBBP and CARM1. Involved in the transcriptional activation of target genes in the Wnt/CTNNB1 pathway. Functions as a secondary coactivator in LEF1-mediated transcriptional activation via its interaction with CTNNB1. Coactivator function for nuclear receptors and LEF1/CTNNB1 involves differential utilization of two different activation regions (By similarity). In association with CCAR1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781).',NULL,NULL,NULL,NULL,NULL),(11160,'UniProt Function',NULL,13406,NULL,'Seems to enhance inorganic pyrphosphatase thus activating phosphogluomutase (PMG). Probably functions as component of the calphoglin complex, which is involved in linking cellular metabolism (phosphate and glucose metabolism) with other core functions including protein synthesis and degradation, calcium signaling and cell growth.',NULL,NULL,NULL,NULL,NULL),(11161,'UniProt Function',NULL,13407,NULL,'Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19041755, PubMed:23169647). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153). Required for the biogenesis and the maintenance of zonula adherens by anchoring the minus-end of microtubules to zonula adherens and by recruiting the kinesin KIFC3 to those junctional sites (PubMed:19041755). Required for orienting the apical-to-basal polarity of microtubules in epithelial cells: acts by tethering non-centrosomal microtubules to the apical cortex, leading to their longitudinal orientation (PubMed:27802168, PubMed:26715742). Plays a key role in early embryos, which lack centrosomes: accumulates at the microtubule bridges that connect pairs of cells and enables the formation of a non-centrosomal microtubule-organizing center that directs intracellular transport in the early embryo (By similarity). Couples non-centrosomal microtubules with actin: interaction with MACF1 at the minus ends of non-centrosomal microtubules, tethers the microtubules to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). Plays a key role in the generation of non-centrosomal microtubules by accumulating in the pericentrosomal region and cooperating with KATNA1 to release non-centrosomal microtubules from the centrosome (PubMed:28386021). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:28089391). Through interaction with AKAP9, involved in translocation of Golgi vesicles in epithelial cells, where microtubules are mainly non-centrosomal (PubMed:28089391).',NULL,NULL,NULL,NULL,NULL),(11162,'UniProt Function',NULL,13408,NULL,'Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis.',NULL,NULL,NULL,NULL,NULL),(11163,'UniProt Function',NULL,13409,NULL,'Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.',NULL,NULL,NULL,NULL,NULL),(11164,'UniProt Function',NULL,13410,NULL,'Induces apoptosis. Interacts with viral and cellular anti-apoptosis proteins. Can overcome the suppressors BCL-2 and BCL-XL, although high levels of BCL-XL expression will inhibit apoptosis. Inhibits apoptosis induced by BNIP3. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix. May function as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(11165,'UniProt Function',NULL,13411,NULL,'Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Major effector of the TTK kinase in the control of attachment-error-correction and chromosome alignment.',NULL,NULL,NULL,NULL,NULL),(11166,'UniProt Function',NULL,13412,NULL,'Involved in the histone deacetylase (HDAC1)-dependent transcriptional repression activity. When overexpressed in lung cancer cell line that lacks p53/TP53 expression, inhibits cell growth.',NULL,NULL,NULL,NULL,NULL),(11167,'UniProt Function',NULL,13414,NULL,'Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues.',NULL,NULL,NULL,NULL,NULL),(11168,'UniProt Function',NULL,13415,NULL,'Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.',NULL,NULL,NULL,NULL,NULL),(11169,'UniProt Function',NULL,13416,NULL,'May play a role in spermatogenesis or folliculogenesis (By similarity). Binds hyperacetylated chromatin and plays a role in the regulation of transcription, probably by chromatin remodeling. Regulates transcription of the CCND1 gene. Plays a role in nucleosome assembly.',NULL,NULL,NULL,NULL,NULL),(11170,'UniProt Function',NULL,13417,NULL,'Serine/threonine-protein kinase that plays a key role in polarization of neurons and centrosome duplication. Phosphorylates CDC25B, CDC25C, MAPT/TAU, RIMS1, TUBG1, TUBG2 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at \'Thr-529\' and \'Ser-579\'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at \'Ser-642\' in post-mitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. In neurons, localizes to synaptic vesicles and plays a role in neurotransmitter release, possibly by phosphorylating RIMS1. Also acts as a positive regulator of centrosome duplication by mediating phosphorylation of gamma-tubulin (TUBG1 and TUBG2) at \'Ser-131\', leading to translocation of gamma-tubulin and its associated proteins to the centrosome. Involved in the UV-induced DNA damage checkpoint response, probably by inhibiting CDK1 activity through phosphorylation and activation of WEE1, and inhibition of CDC25B and CDC25C.',NULL,NULL,NULL,NULL,NULL),(11171,'UniProt Function',NULL,13418,NULL,'Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312). Seems to regulate expression levels and/or subnuclear distribution of TOP1, via an unknown mechanism (By similarity). May play a role in mesenchymal differentiation where it promotes myogenic differentiation and suppresses adipogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(11172,'UniProt Function',NULL,13421,NULL,'May be involved in the regulation of the inflammatory network. Its role as pro- or anti-inflammatory seems to be context dependent (PubMed:21658842, PubMed:27086950). Seems to have some role in regulating food intake and energy balance when administered in the brain. This effect is sustained over a two-day period, and it is accompanied by decreased expression of orexigenic neuropeptides in the hypothalamus 3 h post-injection (By similarity).',NULL,NULL,NULL,NULL,NULL),(11173,'UniProt Function',NULL,13424,NULL,'May play a role as ligand of RXFP1.',NULL,NULL,NULL,NULL,NULL),(11174,'UniProt Function',NULL,13425,NULL,'Receptor for the chemotactic and inflammatory C3a, C4a and C5a anaphylatoxin peptides and also for their dearginated forms ASP/C3adesArg, C4adesArg and C5adesArg respectively. Couples weakly to G(i)-mediated signaling pathways.',NULL,NULL,NULL,NULL,NULL),(11175,'UniProt Function',NULL,13427,NULL,'Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component.',NULL,NULL,NULL,NULL,NULL),(11176,'UniProt Function',NULL,13429,NULL,'May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity).',NULL,NULL,NULL,NULL,NULL),(11177,'UniProt Function',NULL,13430,NULL,'May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). Plays a role in glucose homeostasis. Via AMPK signaling pathway, stimulates glucose uptake in adipocytes, myotubes and hepatocytes and enhances insulin-stimulated glucose uptake. In a hepatoma cell line, reduces the expression of gluconeogenic enzymes G6PC and PCK1 and hence decreases de novo glucose production (By similarity).',NULL,NULL,NULL,NULL,NULL),(11178,'UniProt Function',NULL,13431,NULL,'May function in the secretion of milk-fat droplets. May act as a specific membrane-associated receptor for the association of cytoplasmic droplets with the apical plasma membrane (By similarity). Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion (By similarity).',NULL,NULL,NULL,NULL,NULL),(11179,'UniProt Function',NULL,13433,NULL,'May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2.',NULL,NULL,NULL,NULL,NULL),(11180,'UniProt Function',NULL,13436,NULL,'Does not appear to have detectable kinase activity.',NULL,NULL,NULL,NULL,NULL),(11181,'UniProt Function',NULL,13437,NULL,'May act as a coactivator during transcriptional activation by hormone-activated nuclear receptors (NR). Isoform 2 stimulates transcriptional activation by AR/DHTR, ESR1/NR3A1, RXRA/NR2B1 and THRB/ERBA2. At least isoform 1 and isoform 2 are components of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.',NULL,NULL,NULL,NULL,NULL),(11182,'UniProt Function',NULL,13438,NULL,'May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.',NULL,NULL,NULL,NULL,NULL),(11183,'UniProt Function',NULL,13439,NULL,'May be involved in neuronal differentiation.',NULL,NULL,NULL,NULL,NULL),(11184,'UniProt Function',NULL,13444,NULL,'Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1).',NULL,NULL,NULL,NULL,NULL),(11185,'UniProt Function',NULL,13449,NULL,'The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity).',NULL,NULL,NULL,NULL,NULL),(11186,'UniProt Function',NULL,13452,NULL,'Mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Also mediates heterophilic cell-cell adhesion with CADM3 and NECTIN3 in a Ca(2+)-independent manner. Acts as a tumor suppressor in non-small-cell lung cancer (NSCLC) cells. Interaction with CRTAM promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM3 in vivo. May contribute to the less invasive phenotypes of lepidic growth tumor cells. In mast cells, may mediate attachment to and promote communication with nerves. CADM1, together with MITF, is essential for development and survival of mast cells in vivo. Acts as a synaptic cell adhesion molecule and plays a role in the formation of dendritic spines and in synapse assembly (By similarity). May be involved in neuronal migration, axon growth, pathfinding, and fasciculation on the axons of differentiating neurons. May play diverse roles in the spermatogenesis including in the adhesion of spermatocytes and spermatids to Sertoli cells and for their normal differentiation into mature spermatozoa.',NULL,NULL,NULL,NULL,NULL),(11187,'UniProt Function',NULL,13453,NULL,'Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. PB-cadherins may have a role in the morphological organization of pituitary gland and brain tissues (By similarity).',NULL,NULL,NULL,NULL,NULL),(11188,'UniProt Function',NULL,13454,NULL,'Reversible hydration of carbon dioxide.',NULL,NULL,NULL,NULL,NULL),(11189,'UniProt Function',NULL,13455,NULL,'Does not have a carbonic anhydrase catalytic activity.',NULL,NULL,NULL,NULL,NULL),(11190,'UniProt Function',NULL,13456,NULL,'Pore-forming subunit of a voltage-gated ion channel.',NULL,NULL,NULL,NULL,NULL),(11191,'UniProt Function',NULL,13457,NULL,'Binds calcium. May be involved in terminal differentiation of keratinocytes.',NULL,NULL,NULL,NULL,NULL),(11192,'UniProt Function',NULL,13458,NULL,'Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696).',NULL,NULL,NULL,NULL,NULL),(11193,'UniProt Function',NULL,13459,NULL,'Calcium-regulated non-lysosomal thiol-protease.',NULL,NULL,NULL,NULL,NULL),(11194,'UniProt Function',NULL,13460,NULL,'Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19508979, PubMed:21834987, PubMed:24486153, PubMed:24706919, PubMed:24117850). Specifically recognizes growing microtubule minus-ends and stabilizes microtubules (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, tracks along the growing tips of minus-end microtubules without significantly affecting the polymerization rate: binds at the very tip of the microtubules minus-end and acts as a minus-end tracking protein (-TIP) that dissociates from microtubules after allowing tubulin incorporation (PubMed:24486153, PubMed:24706919). Through interaction with spectrin may regulate neurite outgrowth (PubMed:24117850).',NULL,NULL,NULL,NULL,NULL),(11195,'UniProt Function',NULL,13461,NULL,'Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10. Also activates the TORC1 signaling pathway.',NULL,NULL,NULL,NULL,NULL),(11196,'UniProt Function',NULL,13462,NULL,'Receptor for the natriuretic peptide hormones, binding with similar affinities atrial natriuretic peptide NPPA/ANP, brain natriuretic peptide NPPB/BNP, and C-type natriuretic peptide NPPC/CNP. May function as a clearance receptor for NPPA, NPPB and NPPC, regulating their local concentrations and effects. May regulate diuresis, blood pressure and skeletal development. Does not have guanylate cyclase activity.',NULL,NULL,NULL,NULL,NULL),(11197,'UniProt Function',NULL,13463,NULL,'Arginine methyltransferase that methylates (mono and asymmetric dimethylation) the guanidino nitrogens of arginyl residues present in proteins such as ESR1, histone H2, H3 and H4, PIAS1, HNRNPA1, HNRNPD, NFATC2IP, SUPT5H, TAF15, EWS, HABP4 and SERBP1 (PubMed:16879614, PubMed:26876602). Constitutes the main enzyme that mediates monomethylation and asymmetric dimethylation of histone H4 \'Arg-4\' (H4R3me1 and H4R3me2a, respectively), a specific tag for epigenetic transcriptional activation. Together with dimethylated PIAS1, represses STAT1 transcriptional activity, in the late phase of interferon gamma (IFN-gamma) signaling. May be involved in the regulation of TAF15 transcriptional activity, act as an activator of estrogen receptor (ER)-mediated transactivation, play a key role in neurite outgrowth and act as a negative regulator of megakaryocytic differentiation, by modulating p38 MAPK pathway. Methylates RBM15, promoting ubiquitination and degradation of RBM15 (PubMed:26575292). Methylates FOXO1 and retains it in the nucleus increasing its transcriptional activity. Methylates CHTOP and this methylation is critical for its 5-hydroxymethylcytosine (5hmC)-binding activity (PubMed:25284789). Methylates H4R3 in genes involved in glioblastomagenesis in a CHTOP- and/or TET1-dependent manner (PubMed:25284789).',NULL,NULL,NULL,NULL,NULL),(11198,'UniProt Function',NULL,13465,NULL,'As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. Plays a role in assembly of the complex (PubMed:26812018). May play a role in cellular response to endoplasmic reticulum stress (By similarity).',NULL,NULL,NULL,NULL,NULL),(11199,'UniProt Function',NULL,13466,NULL,'Functions as a negative regulator of myocyte differentiation. May interact with both sarcoplasmic structural proteins and nuclear proteins to regulate gene expression during muscle development and in response to muscle stress.',NULL,NULL,NULL,NULL,NULL),(11200,'UniProt Function',NULL,13468,NULL,'Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.',NULL,NULL,NULL,NULL,NULL),(11201,'UniProt Function',NULL,13469,NULL,'Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(11202,'UniProt Function',NULL,13470,NULL,'Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis.',NULL,NULL,NULL,NULL,NULL),(11203,'UniProt Function',NULL,13471,NULL,'Exhibits strong arylesterase activity with beta-naphthyl acetate and phenyl acetate. May play a role in adipocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(11204,'UniProt Function',NULL,13472,NULL,'Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Has a preference for ARF1 and ARF5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(11205,'UniProt Function',NULL,13473,NULL,'Ligand of the EGF receptor/EGFR. Autocrine growth factor as well as a mitogen for a broad range of target cells including astrocytes, Schwann cells and fibroblasts.',NULL,NULL,NULL,NULL,NULL),(11206,'UniProt Function',NULL,13474,NULL,'Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Functions also in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(11207,'UniProt Function',NULL,13475,NULL,'Catalyzes the NADPH-dependent reduction of succinic semialdehyde to gamma-hydroxybutyrate. May have an important role in producing the neuromodulator gamma-hydroxybutyrate (GHB). Has broad substrate specificity. Has NADPH-dependent aldehyde reductase activity towards 2-carboxybenzaldehyde, 2-nitrobenzaldehyde and pyridine-2-aldehyde (in vitro). Can reduce 1,2-naphthoquinone and 9,10-phenanthrenequinone (in vitro). Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen.',NULL,NULL,NULL,NULL,NULL),(11208,'UniProt Function',NULL,13476,NULL,'May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver.',NULL,NULL,NULL,NULL,NULL),(11209,'UniProt Function',NULL,13477,NULL,'Apo(a) is the main constituent of lipoprotein(a) (Lp(a)). It has serine proteinase activity and is able of autoproteolysis. Inhibits tissue-type plasminogen activator 1. Lp(a) may be a ligand for megalin/Gp 330.',NULL,NULL,NULL,NULL,NULL),(11210,'UniProt Function',NULL,13478,NULL,'Water channel required to promote glycerol permeability and water transport across cell membranes. May contribute to water transport in the upper portion of small intestine. Isoform 2 is not permeable to urea and glycerol.',NULL,NULL,NULL,NULL,NULL),(11211,'UniProt Function',NULL,13479,NULL,'Minor apolipoprotein that associates with LDL. Inhibits cholesteryl ester transfer protein (CETP) activity and appears to be an important regulator of cholesterol transport. Also associates to a lesser degree with VLDL, Apo-AI and Apo-AII.',NULL,NULL,NULL,NULL,NULL),(11212,'UniProt Function',NULL,13480,NULL,'Specifically phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors.',NULL,NULL,NULL,NULL,NULL),(11213,'UniProt Function',NULL,13481,NULL,'GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes.',NULL,NULL,NULL,NULL,NULL),(11214,'UniProt Function',NULL,13482,NULL,'Putative target protein of ADP-ribosylation factor.',NULL,NULL,NULL,NULL,NULL),(11215,'UniProt Function',NULL,13483,NULL,'Specific GEF for RhoA activation. Does not activate RAC1 or CDC42. Regulates vascular smooth muscle contractility. Negatively regulates excitatory synapse development by suppressing the synapse-promoting activity of EPHB2.',NULL,NULL,NULL,NULL,NULL),(11216,'UniProt Function',NULL,13484,NULL,'Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits. Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain. This GEF activity is inhibited by binding to activated GNA12. Mediates angiotensin-2-induced RhoA activation.',NULL,NULL,NULL,NULL,NULL),(11217,'UniProt Function',NULL,13486,NULL,'Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases.',NULL,NULL,NULL,NULL,NULL),(11218,'UniProt Function',NULL,13487,NULL,'Binds to AT-rich stretches in the modulator region upstream of the human cytomegalovirus major intermediate early gene enhancer. May act as repressor and down-regulate enhancer-dependent gene expressison (PubMed:8649988). May positively regulate chondrocyte-specific transcription such as of COL2A1 in collaboration with SOX9 and positively regulate histone H3 acetylation at chondrocyte-specific genes. May stimulate early-stage chondrocyte differentiation and inhibit later stage differention (By similarity). Can repress ESR1-mediated transcriptional activation; proposed to act as corepressor for selective nuclear hormone receptors (PubMed:15941852). As RNA-binding protein involved in the regulation of inflammatory response by stabilizing selective inflammation-related mRNAs, such as IL6, STAT3 and TBX21. Binds to stem loop structures located in the 3\'UTRs of IL6, STAT3 and TBX21 mRNAs; at least for STAT3 prevents binding of ZC3H12A to the mRNA stem loop structure thus inhibiting its degradation activity. Contributes to elevated IL6 levels possibly implicated in autoimmunity processes. IL6-dependent stabilization of STAT3 mRNA may promote differentiation of naive CD4+ T-cells into T-helper Th17 cells. In CD4+ T-cells may also inhibit RORC-induced Th17 cell differentiation independently of IL6 signaling. Stabilization of TBX21 mRNA contributes to elevated interferon-gamma secretion in Th1 cells possibly implicated in the establishment of septic shock (By similarity).',NULL,NULL,NULL,NULL,NULL),(11219,'UniProt Function',NULL,13488,NULL,'DNA helicase that modulates androgen receptor (AR)-dependent transactivation in a promoter-dependent manner. Not able to remodel mononucleosomes in vitro (By similarity).',NULL,NULL,NULL,NULL,NULL),(11220,'UniProt Function',NULL,13490,NULL,'E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3 (PubMed:15236971, PubMed:21532592, PubMed:24076655, PubMed:27565346, PubMed:23707686). Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-RING ubiquitin ligase (CRL) complexes and initiating ubiquitination of CRL substrates: associates with CRL complexes and specifically mediates addition of the first ubiquitin on CRLs targets (PubMed:27565346). The initial ubiquitin is then elongated by CDC34/UBE2R1 and UBE2R2 (PubMed:27565346). E3 ubiquitin-protein ligase activity is activated upon binding to neddylated cullin-RING ubiquitin ligase complexes (PubMed:24076655, PubMed:27565346). Plays a role in protein translation in response to DNA damage by mediating ubiquitination of EIF4E2, the consequences of EIF4E2 ubiquitination are however unclear (PubMed:25624349). According to a report, EIF4E2 ubiquitination leads to promote EIF4E2 cap-binding and protein translation arrest (PubMed:25624349). According to another report EIF4E2 ubiquitination leads to its subsequent degradation (PubMed:14623119). Acts as the ligase involved in ISGylation of EIF4E2 (PubMed:17289916).',NULL,NULL,NULL,NULL,NULL),(11221,'UniProt Function',NULL,13493,NULL,'Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at \'Lys-119\' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with some specificity toward \'Lys-48\'-linked polyubiquitin chains compared to \'Lys-63\'-linked polyubiquitin chains. Deubiquitination of HCFC1 does not lead to increase stability of HCFC1. Interferes with the BRCA1 and BARD1 heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination. It however does not mediate deubiquitination of BRCA1 and BARD1. Able to mediate autodeubiquitination via intramolecular interactions to couteract monoubiquitination at the nuclear localization signal (NLS), thereby protecting it from cytoplasmic sequestration (PubMed:24703950). Acts as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(11222,'UniProt Function',NULL,13494,NULL,'Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on histone H3 \'Lys-4\' (H3K4me3) and \'Lys-36\' (H3K36me2).',NULL,NULL,NULL,NULL,NULL),(11223,'UniProt Function',NULL,13495,NULL,'May be a signaling adapter molecule involved in p75NTR-mediated apoptosis induced by NGF. Plays a role in zinc-triggered neuronal death (By similarity). May play an important role in the pathogenesis of neurogenetic diseases.',NULL,NULL,NULL,NULL,NULL),(11224,'UniProt Function',NULL,13496,NULL,'May sustain the structure of the postsynaptic density (PSD).',NULL,NULL,NULL,NULL,NULL),(11225,'UniProt Function',NULL,13497,NULL,'Forms calcium-sensitive chloride channels. Permeable to bicarbonate.',NULL,NULL,NULL,NULL,NULL),(11226,'UniProt Function',NULL,13498,NULL,'Forms calcium-sensitive chloride channels. Permeable to bicarbonate.',NULL,NULL,NULL,NULL,NULL),(11227,'UniProt Function',NULL,13499,NULL,'Accelerates programmed cell death. Association to the apoptosis repressors Bcl-X(L), BHRF1, Bcl-2 or its adenovirus homolog E1B 19k protein suppresses this death-promoting activity. Does not interact with BAX.',NULL,NULL,NULL,NULL,NULL),(11228,'UniProt Function',NULL,13500,NULL,'Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma membrane. Probably is involved in the exit of GABA(A) receptors from the endoplasmic reticulum. Involved in constitutive release of tumor necrosis factor receptor 1 via exosome-like vesicles; the function seems to involve PKA and specifically PRKAR2B. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways.',NULL,NULL,NULL,NULL,NULL),(11229,'UniProt Function',NULL,13501,NULL,'Receptor for bradykinin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(11230,'UniProt Function',NULL,13502,NULL,'Endoplasmic reticulum chaperone that plays a key role in protein folding and quality control in the endoplasmic reticulum lumen (PubMed:2294010, PubMed:23769672, PubMed:23990668, PubMed:28332555). Involved in the correct folding of proteins and degradation of misfolded proteins via its interaction with DNAJC10/ERdj5, probably to facilitate the release of DNAJC10/ERdj5 from its substrate (By similarity). Acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR) (PubMed:1550958, PubMed:19538957). In the unstressed endoplasmic reticulum, recruited by DNAJB9/ERdj4 to the luminal region of ERN1/IRE1, leading to disrupt the dimerization of ERN1/IRE1, thereby inactivating ERN1/IRE1 (By similarity). Accumulation of misfolded protein in the endoplasmic reticulum causes release of HSPA5/BiP from ERN1/IRE1, allowing homodimerization and subsequent activation of ERN1/IRE1 (By similarity). Plays an auxiliary role in post-translational transport of small presecretory proteins across endoplasmic reticulum (ER). May function as an allosteric modulator for SEC61 channel-forming translocon complex, likely cooperating with SEC62 to enable the productive insertion of these precursors into SEC61 channel. Appears to specifically regulate translocation of precursors having inhibitory residues in their mature region that weaken channel gating.',NULL,NULL,NULL,NULL,NULL),(11231,'UniProt Function',NULL,13503,NULL,'Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, mitogenic kinase signaling, and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and regulates both canonical and non-canonical NF-kappa-B signaling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signaling. The target proteins for its E3 ubiquitin-protein ligase activity include: RIPK1, RIPK2, RIPK3, RIPK4, CASP3, CASP7, CASP8, TRAF2, DIABLO/SMAC, MAP3K14/NIK, MAP3K5/ASK1, IKBKG/NEMO, IKBKE and MXD1/MAD1. Can also function as an E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway, targeting effector caspases for neddylation and inactivation. Acts as an important regulator of innate immune signaling via regulation of Toll-like receptors (TLRs), Nodlike receptors (NLRs) and RIG-I like receptors (RLRs), collectively referred to as pattern recognition receptors (PRRs). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8. Can stimulate the transcriptional activity of E2F1. Plays a role in the modulation of the cell cycle.',NULL,NULL,NULL,NULL,NULL),(11232,'UniProt Function',NULL,13504,NULL,'As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. Thereby, it may indirectly play a role in cell spreading and motility.',NULL,NULL,NULL,NULL,NULL),(11233,'UniProt Function',NULL,13505,NULL,'Broad specificity oxidoreductase that catalyzes the NADPH-dependent reduction of a variety of flavins, such as riboflavin, FAD or FMN, biliverdins, methemoglobin and PQQ (pyrroloquinoline quinone). Contributes to heme catabolism and metabolizes linear tetrapyrroles. Can also reduce the complexed Fe(3+) iron to Fe(2+) in the presence of FMN and NADPH. In the liver, converts biliverdin to bilirubin.',NULL,NULL,NULL,NULL,NULL),(11234,'UniProt Function',NULL,13506,NULL,'Non-receptor tyrosine kinase that plays central but diverse modulatory roles in various signaling processes involved in the regulation of actin reorganization, cell migration, cell proliferation and survival, cell adhesion, and apoptosis. Participates in signal transduction stimulated by growth factor receptors, cytokine receptors, G-protein coupled receptors, antigen receptors and integrins. Induces tyrosine phosphorylation of BCAR1 in response to integrin regulation. Activation of BMX by integrins is mediated by PTK2/FAK1, a key mediator of integrin signaling events leading to the regulation of actin cytoskeleton and cell motility. Plays a critical role in TNF-induced angiogenesis, and implicated in the signaling of TEK and FLT1 receptors, 2 important receptor families essential for angiogenesis. Required for the phosphorylation and activation of STAT3, a transcription factor involved in cell differentiation. Also involved in interleukin-6 (IL6) induced differentiation. Plays also a role in programming adaptive cytoprotection against extracellular stress in different cell systems, salivary epithelial cells, brain endothelial cells, and dermal fibroblasts. May be involved in regulation of endocytosis through its interaction with an endosomal protein RUFY1. May also play a role in the growth and differentiation of hematopoietic cells; as well as in signal transduction in endocardial and arterial endothelial cells.',NULL,NULL,NULL,NULL,NULL),(11235,'UniProt Function',NULL,13507,NULL,'Plays a role in the innate immune responses of the upper airways. Reduces the surface tension in secretions from airway epithelia and inhibits the formation of biofilm by pathogenic Gram-negative bacteria, such as P.aeruginosa and K.pneumoniae. Binds bacterial lipopolysaccharide (LPS). Negatively regulates proteolytic cleavage of SCNN1G, an event that is required for activation of the epithelial sodium channel (ENaC), and thereby contributes to airway surface liquid homeostasis and proper clearance of mucus. Plays a role in the airway inflammatory response after exposure to irritants. May attract macrophages and neutrophils. May be associated with tumor progression.',NULL,NULL,NULL,NULL,NULL),(11236,'UniProt Function',NULL,13508,NULL,'Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits MAPK8 independently of CDC42 binding. Controls septin organization and this effect is negatively regulated by CDC42 (By similarity).',NULL,NULL,NULL,NULL,NULL),(11237,'UniProt Function',NULL,13510,NULL,'E3 ubiquitin-protein ligase that specifically mediates the formation of \'Lys-6\'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for normal cell cycle progression from G2 to mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8. Acts as a transcriptional activator (PubMed:20160719).',NULL,NULL,NULL,NULL,NULL),(11238,'UniProt Function',NULL,13511,NULL,'Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition. Promotes pituitary gonadotrope cell proliferation, migration and invasion, when overexpressed. May play a role in cell pituitary tumor development.',NULL,NULL,NULL,NULL,NULL),(11239,'UniProt Function',NULL,13513,NULL,'Transcriptional repressor. Down-regulates transcription activation by NF-kappa-B by promoting the deacetylation of RELA at \'Lys-310\'. Promotes HDAC1 binding to promoter regions. Down-regulates expression of anti-apoptotic genes that are controlled by NF-kappa-B. Promotes apoptosis in cells that have inadequate adherence to a substrate, a process called anoikis, and may thereby inhibit metastasis. May be a mediator of metastasis suppression in breast carcinoma.',NULL,NULL,NULL,NULL,NULL),(11240,'UniProt Function',NULL,13515,NULL,'Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and transformed cells that are characterized by high levels of phosphorylated metabolites, such as isopentenyl pyrophosphate.',NULL,NULL,NULL,NULL,NULL),(11241,'UniProt Function',NULL,13516,NULL,'Plays a role in the mitochondrial apoptosic process. Upon arrival of cell death signals, promotes mitochondrial outer membrane (MOM) permeabilization by oligomerizing to form pores within the MOM. This releases apoptogenic factors into the cytosol, including cytochrome c, promoting the activation of caspase 9 which in turn processes and activates the effector caspases.',NULL,NULL,NULL,NULL,NULL),(11242,'UniProt Function',NULL,13517,NULL,'Unknown. Candidate gene encoding tumor antigens.',NULL,NULL,NULL,NULL,NULL),(11243,'UniProt Function',NULL,13518,NULL,'Unknown. Candidate gene encoding tumor antigens.',NULL,NULL,NULL,NULL,NULL),(11244,'UniProt Function',NULL,13519,NULL,'Unknown. Candidate gene encoding tumor antigens.',NULL,NULL,NULL,NULL,NULL),(11245,'UniProt Function',NULL,13520,NULL,'Unknown. Candidate gene encoding tumor antigens.',NULL,NULL,NULL,NULL,NULL),(11246,'UniProt Function',NULL,13521,NULL,'Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184).',NULL,NULL,NULL,NULL,NULL),(11247,'UniProt Function',NULL,13522,NULL,'The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization (PubMed:17574030, PubMed:22072986). Plays a role in olfactory cilium biogenesis/maintenance and trafficking (By similarity).',NULL,NULL,NULL,NULL,NULL),(11248,'UniProt Function',NULL,13523,NULL,'The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.',NULL,NULL,NULL,NULL,NULL),(11249,'UniProt Function',NULL,13524,NULL,'Laminin alpha-5 receptor. May mediate intracellular signaling.',NULL,NULL,NULL,NULL,NULL),(11250,'UniProt Function',NULL,13526,NULL,'Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine.',NULL,NULL,NULL,NULL,NULL),(11251,'UniProt Function',NULL,13527,NULL,'Transcriptional repressor mainly required for germinal center (GC) formation and antibody affinity maturation which has different mechanisms of action specific to the lineage and biological functions. Forms complexes with different corepressors and histone deacetylases to repress the transcriptional expression of different subsets of target genes. Represses its target genes by binding directly to the DNA sequence 5\'-TTCCTAGAA-3\' (BCL6-binding site) or indirectly by repressing the transcriptional activity of transcription factors. In GC B-cells, represses genes that function in differentiation, inflammation, apoptosis and cell cycle control, also autoregulates its transcriptional expression and up-regulates, indirectly, the expression of some genes important for GC reactions, such as AICDA, through the repression of microRNAs expression, like miR155. An important function is to allow GC B-cells to proliferate very rapidly in response to T-cell dependent antigens and tolerate the physiological DNA breaks required for immunglobulin class switch recombination and somatic hypermutation without inducing a p53/TP53-dependent apoptotic response. In follicular helper CD4(+) T-cells (T(FH) cells), promotes the expression of T(FH)-related genes but inhibits the differentiation of T(H)1, T(H)2 and T(H)17 cells. Also required for the establishment and maintenance of immunological memory for both T- and B-cells. Suppresses macrophage proliferation through competition with STAT5 for STAT-binding motifs binding on certain target genes, such as CCL2 and CCND2. In response to genotoxic stress, controls cell cycle arrest in GC B-cells in both p53/TP53-dependedent and -independent manners. Besides, also controls neurogenesis through the alteration of the composition of NOTCH-dependent transcriptional complexes at selective NOTCH targets, such as HES5, including the recruitment of the deacetylase SIRT1 and resulting in an epigenetic silencing leading to neuronal differentiation.',NULL,NULL,NULL,NULL,NULL),(11252,'UniProt Function',NULL,13528,NULL,'May play an anti-apoptotic role.',NULL,NULL,NULL,NULL,NULL),(11253,'UniProt Function',NULL,13529,NULL,'GTPase-activating protein for RAC1 and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them. Displays serine/threonine kinase activity.',NULL,NULL,NULL,NULL,NULL),(11254,'UniProt Function',NULL,13530,NULL,'Signaling adapter molecule involved in p75NTR/NGFR signaling. Plays a role in cell cycle progression and neuronal differentiation. Inhibits neuronal differentiation in response to nerve growth factor (NGF). May act as a link between the cell cycle and neurotrophic factor signaling, possibly by functioning as an upstream modulator of receptor signaling, coordinating biological responses to external signals with internal cellular states (By similarity).',NULL,NULL,NULL,NULL,NULL),(11255,'UniProt Function',NULL,13531,NULL,'Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.',NULL,NULL,NULL,NULL,NULL),(11256,'UniProt Function',NULL,13532,NULL,'Catalyzes the formation of aromatic C18 estrogens from C19 androgens.',NULL,NULL,NULL,NULL,NULL),(11257,'UniProt Function',NULL,13533,NULL,'Acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins (PubMed:26613676, PubMed:27519415). Acts together with the monothiol glutaredoxin GLRX3 (PubMed:26613676, PubMed:27519415).',NULL,NULL,NULL,NULL,NULL),(11258,'UniProt Function',NULL,13534,NULL,'Induces cartilage and bone formation. Also acts in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).',NULL,NULL,NULL,NULL,NULL),(11259,'UniProt Function',NULL,13535,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility (PubMed:15386022, PubMed:16359901, PubMed:26151332, PubMed:16714294, PubMed:21772249, PubMed:25355358, PubMed:27827373). The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A (PubMed:21772249, PubMed:25355358). In the PRC1-like complex, regulates the E3 ubiquitin-protein ligase activity of RNF2/RING2 (PubMed:15386022, PubMed:26151332, PubMed:21772249).',NULL,NULL,NULL,NULL,NULL),(11260,'UniProt Function',NULL,13536,NULL,'May be involved in follicular development. Oocyte-specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth.',NULL,NULL,NULL,NULL,NULL),(11261,'UniProt Function',NULL,13537,NULL,'Involved in regulation of actin and microtubule organization. Part of a WAVE complex that activates the Arp2/3 complex. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).',NULL,NULL,NULL,NULL,NULL),(11262,'UniProt Function',NULL,13538,NULL,'Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.',NULL,NULL,NULL,NULL,NULL),(11263,'UniProt Function',NULL,13539,NULL,'Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(11264,'UniProt Function',NULL,13541,NULL,'Isoform 1: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.',NULL,NULL,NULL,NULL,NULL),(11265,'UniProt Function',NULL,13541,NULL,'Isoform 2: Has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers.',NULL,NULL,NULL,NULL,NULL),(11266,'UniProt Function',NULL,13542,NULL,'This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O individuals lack such activity.',NULL,NULL,NULL,NULL,NULL),(11267,'UniProt Function',NULL,13543,NULL,'Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.',NULL,NULL,NULL,NULL,NULL),(11268,'UniProt Function',NULL,13544,NULL,'Promotes cell motility and migration, probably via its interaction with the cell membrane and with podosome proteins that mediate interaction with the cytoskeleton. Modulates membrane curvature and mediates membrane tubulation. Plays a role in podosome formation. Inhibits phagocytosis.',NULL,NULL,NULL,NULL,NULL),(11269,'UniProt Function',NULL,13545,NULL,'May regulate some ion channels\' activity and therebye regulate calcium fluxes during sperm capacitation.',NULL,NULL,NULL,NULL,NULL),(11270,'UniProt Function',NULL,13547,NULL,'Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes (PubMed:15102850, PubMed:17182842). In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (By similarity). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May play a role in cell proliferation (PubMed:15381421).',NULL,NULL,NULL,NULL,NULL),(11271,'UniProt Function',NULL,13548,NULL,'Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling. B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. Signaling through BLK plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as the signaling for growth arrest and apoptosis downstream of B-cell receptor. Specifically binds and phosphorylates CD79A at \'Tyr-188\'and \'Tyr-199\', as well as CD79B at \'Tyr-196\' and \'Tyr-207\'. Phosphorylates also the immunoglobulin G receptors FCGR2A, FCGR2B and FCGR2C. With FYN and LYN, plays an essential role in pre-B-cell receptor (pre-BCR)-mediated NF-kappa-B activation. Contributes also to BTK activation by indirectly stimulating BTK intramolecular autophosphorylation. In pancreatic islets, acts as a modulator of beta-cells function through the up-regulation of PDX1 and NKX6-1 and consequent stimulation of insulin secretion in response to glucose.',NULL,NULL,NULL,NULL,NULL),(11272,'UniProt Function',NULL,13549,NULL,'Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots \'circa\' (about) and \'diem\' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for \'timegivers\'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5\'-CACGTG-3\') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. ARNTL/BMAL1 positively regulates myogenesis and negatively regulates adipogenesis via the transcriptional control of the genes of the canonical Wnt signaling pathway. Plays a role in normal pancreatic beta-cell function; regulates glucose-stimulated insulin secretion via the regulation of antioxidant genes NFE2L2/NRF2 and its targets SESN2, PRDX3, CCLC and CCLM. Negatively regulates the mTORC1 signaling pathway; regulates the expression of MTOR and DEPTOR. Controls diurnal oscillations of Ly6C inflammatory monocytes; rhythmic recruitment of the PRC2 complex imparts diurnal variation to chemokine expression that is necessary to sustain Ly6C monocyte rhythms. Regulates the expression of HSD3B2, STAR, PTGS2, CYP11A1, CYP19A1 and LHCGR in the ovary and also the genes involved in hair growth. Plays an important role in adult hippocampal neurogenesis by regulating the timely entry of neural stem/progenitor cells (NSPCs) into the cell cycle and the number of cell divisions that take place prior to cell-cycle exit. Regulates the circadian expression of CIART and KLF11. The CLOCK-ARNTL/BMAL1 heterodimer regulates the circadian expression of SERPINE1/PAI1, VWF, B3, CCRN4L/NOC, NAMPT, DBP, MYOD1, PPARGC1A, PPARGC1B, SIRT1, GYS2, F7, NGFR, GNRHR, BHLHE40/DEC1, ATF4, MTA1, KLF10 and also genes implicated in glucose and lipid metabolism. Promotes rhythmic chromatin opening, regulating the DNA accessibility of other transcription factors. The NPAS2-ARNTL/BMAL1 heterodimer positively regulates the expression of MAOA, F7 and LDHA and modulates the circadian rhythm of daytime contrast sensitivity by regulating the rhythmic expression of adenylate cyclase type 1 (ADCY1) in the retina. The preferred binding motif for the CLOCK-ARNTL/BMAL1 heterodimer is 5\'-CACGTGA-3\', which contains a flanking Ala residue in addition to the canonical 6-nucleotide E-box sequence (PubMed:23229515). CLOCK specifically binds to the half-site 5\'-CAC-3\', while ARNTL binds to the half-site 5\'-GTGA-3\' (PubMed:23229515). The CLOCK-ARNTL/BMAL1 heterodimer also recognizes the non-canonical E-box motifs 5\'-AACGTGA-3\' and 5\'-CATGTGA-3\' (PubMed:23229515). Essential for the rhythmic interaction of CLOCK with ASS1 and plays a critical role in positively regulating CLOCK-mediated acetylation of ASS1 (PubMed:28985504).',NULL,NULL,NULL,NULL,NULL),(11273,'UniProt Function',NULL,13550,NULL,'Multitasking protein that has dual roles in promoting cell proliferation and preventing apoptosis (PubMed:9859993, PubMed:21364656, PubMed:20627126). Component of a chromosome passage protein complex (CPC) which is essential for chromosome alignment and segregation during mitosis and cytokinesis (PubMed:16322459). Acts as an important regulator of the localization of this complex; directs CPC movement to different locations from the inner centromere during prometaphase to midbody during cytokinesis and participates in the organization of the center spindle by associating with polymerized microtubules (PubMed:20826784). Involved in the recruitment of CPC to centromeres during early mitosis via association with histone H3 phosphorylated at \'Thr-3\' (H3pT3) during mitosis (PubMed:20929775). The complex with RAN plays a role in mitotic spindle formation by serving as a physical scaffold to help deliver the RAN effector molecule TPX2 to microtubules (PubMed:18591255). May counteract a default induction of apoptosis in G2/M phase (PubMed:9859993). The acetylated form represses STAT3 transactivation of target gene promoters (PubMed:20826784). May play a role in neoplasia (PubMed:10626797). Inhibitor of CASP3 and CASP7 (PubMed:21536684). Isoform 2 and isoform 3 do not appear to play vital roles in mitosis (PubMed:12773388, PubMed:16291752). Isoform 3 shows a marked reduction in its anti-apoptotic effects when compared with the displayed wild-type isoform (PubMed:10626797).',NULL,NULL,NULL,NULL,NULL),(11274,'UniProt Function',NULL,13551,NULL,'Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the activation of NF-kappa-B and NFAT. Plays an important role in BCR-mediated PLCG1 and PLCG2 activation and Ca(2+) mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required for pre-BCR-mediated activation of MAP kinase and phosphatidyl-inositol 3 (PI3) kinase signaling. May be required for the RAC1-JNK pathway. Plays a critical role in orchestrating the pro-B cell to pre-B cell transition. May play an important role in BCR-induced B-cell apoptosis.',NULL,NULL,NULL,NULL,NULL),(11275,'UniProt Function',NULL,13552,NULL,'Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.',NULL,NULL,NULL,NULL,NULL),(11276,'UniProt Function',NULL,13553,NULL,'As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor.',NULL,NULL,NULL,NULL,NULL),(11277,'UniProt Function',NULL,13555,NULL,'Inhibits cell proliferation by negative regulation of the G1/S transition. Mediates cell death which is not of the classical apoptotic type and regulates expression of components of the plasminogen pathway.',NULL,NULL,NULL,NULL,NULL),(11278,'UniProt Function',NULL,13556,NULL,'Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition.',NULL,NULL,NULL,NULL,NULL),(11279,'UniProt Function',NULL,13557,NULL,'Is thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act through binding to ERC2/CAST1. Essential in regulated neurotransmitter release from a subset of brain glutamatergic synapses. Involved in the formation of the retinal photoreceptor ribbon synapses (By similarity).',NULL,NULL,NULL,NULL,NULL),(11280,'UniProt Function',NULL,13558,NULL,'Acts as a mediator of epithelial dynamics and organ branching by promoting cleft progression. Induced following accumulation of fibronectin in forming clefts, leading to local expression of the cell-scattering SNAIL2 and suppression of E-cadherin levels, thereby altering cell morphology and reducing cell-cell adhesion. This stimulates cell separation at the base of forming clefts by local, dynamic intercellular gap formation and promotes cleft progression (By similarity).',NULL,NULL,NULL,NULL,NULL),(11281,'UniProt Function',NULL,13559,NULL,'Plays an important role in targeting the monocarboxylate transporters SLC16A1, SLC16A3, SLC16A8, SLC16A11 and SLC16A12 to the plasma membrane (PubMed:21778275). Plays pivotal roles in spermatogenesis, embryo implantation, neural network formation and tumor progression. Stimulates adjacent fibroblasts to produce matrix metalloproteinases (MMPS). Seems to be a receptor for oligomannosidic glycans. In vitro, promotes outgrowth of astrocytic processes.',NULL,NULL,NULL,NULL,NULL),(11282,'UniProt Function',NULL,13560,NULL,'AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system: specifically mediates the differentiation of T-helper 17 cells (Th17), follicular T-helper cells (TfH), CD8(+) dendritic cells and class-switch recombination (CSR) in B-cells. Acts via the formation of a heterodimer with JUNB that recognizes and binds DNA sequence 5\'-TGA[CG]TCA-3\'. The BATF-JUNB heterodimer also forms a complex with IRF4 (or IRF8) in immune cells, leading to recognition of AICE sequence (5\'-TGAnTCA/GAAA-3\'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF4 (or IRF8) and activation of genes. Controls differentiation of T-helper cells producing interleukin-17 (Th17 cells) by binding to Th17-associated gene promoters: regulates expression of the transcription factor RORC itself and RORC target genes such as IL17 (IL17A or IL17B). Also involved in differentiation of follicular T-helper cells (TfH) by directing expression of BCL6 and MAF. In B-cells, involved in class-switch recombination (CSR) by controlling the expression of both AICDA and of germline transcripts of the intervening heavy-chain region and constant heavy-chain region (I(H)-C(H)). Following infection, can participate in CD8(+) dendritic cell differentiation via interaction with IRF4 and IRF8 to mediate cooperative gene activation. Regulates effector CD8(+) T-cell differentiation by regulating expression of SIRT1. Following DNA damage, part of a differentiation checkpoint that limits self-renewal of hematopoietic stem cells (HSCs): up-regulated by STAT3, leading to differentiation of HSCs, thereby restricting self-renewal of HSCs (By similarity).',NULL,NULL,NULL,NULL,NULL),(11283,'UniProt Function',NULL,13561,NULL,'Unknown. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes.',NULL,NULL,NULL,NULL,NULL),(11284,'UniProt Function',NULL,13562,NULL,'Transcription factor that is necessary for cell cycle progression from G1 to S phase.',NULL,NULL,NULL,NULL,NULL),(11285,'UniProt Function',NULL,13563,NULL,'The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation.',NULL,NULL,NULL,NULL,NULL),(11286,'UniProt Function',NULL,13564,NULL,'Transcription factor associated with the BAF SWI/SNF chromatin remodeling complex (By similarity). Repressor of fetal hemoglobin (HbF) level (PubMed:26375765). Involved in brain development (PubMed:27453576). Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. Essential factor in lymphopoiesis required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(11287,'UniProt Function',NULL,13565,NULL,'Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus (PubMed:27959755). Is a regulator of IL2 promoter and enhances IL2 expression in activated CD4(+) T-lymphocytes (PubMed:16809611). Tumor-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity). May also function in the P53-signaling pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(11288,'UniProt Function',NULL,13566,NULL,'Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator. Involved in DNA damage response by phosphorylating \'Tyr-142\' of histone H2AX (H2AXY142ph). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at \'Tyr-142\', and is involved in the maintenance of chromatin structures during DNA replication processes. In the complex, it mediates the recruitment of the WICH complex to replication foci during DNA replication.',NULL,NULL,NULL,NULL,NULL),(11289,'UniProt Function',NULL,13567,NULL,'Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing. In the complex, it plays a central role by being recruited to rDNA and by targeting chromatin modifying enzymes such as HDAC1, leading to repress RNA polymerase I transcription. Recruited to rDNA via its interaction with TTF1 and its ability to recognize and bind histone H4 acetylated on \'Lys-16\' (H4K16ac), leading to deacetylation of H4K5ac, H4K8ac, H4K12ac but not H4K16ac. Specifically binds pRNAs, 150-250 nucleotide RNAs that are complementary in sequence to the rDNA promoter; pRNA-binding is required for heterochromatin formation and rDNA silencing (By similarity).',NULL,NULL,NULL,NULL,NULL),(11290,'UniProt Function',NULL,13568,NULL,'During interphase, required for microtubule organizing and anchoring activities. During mitosis, required for the organization and stabilization of the spindle pole (PubMed:28394342). Isoform 2/alpha is particularly important for the regulation of microtubule anchoring, microtubule stability, spindle architecture and spindle orientation, compared to isoform 1/beta (PubMed:28394342). May promote cell cycle arrest by enhancing the inhibition of CDK2 activity by CDKN1A. May be required for repair of DNA damage by homologous recombination in conjunction with BRCA2. May not be involved in non-homologous end joining (NHEJ).',NULL,NULL,NULL,NULL,NULL),(11291,'UniProt Function',NULL,13569,NULL,'Isoform 3: Does not affect cell growth.',NULL,NULL,NULL,NULL,NULL),(11292,'UniProt Function',NULL,13570,NULL,'Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin.',NULL,NULL,NULL,NULL,NULL),(11293,'UniProt Function',NULL,13571,NULL,'May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8-mediated apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(11294,'UniProt Function',NULL,13573,NULL,'Required for vesicular transport from the ER to the Golgi complex. Functions as a SNARE involved in the docking process of ER-derived vesicles with the cis-Golgi membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(11295,'UniProt Function',NULL,13574,NULL,'Involved in early centriole assembly/duplication/biogenesis/formation/. Required for centriole elongation. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner.',NULL,NULL,NULL,NULL,NULL),(11296,'UniProt Function',NULL,13574,NULL,'Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865).',NULL,NULL,NULL,NULL,NULL),(11297,'UniProt Function',NULL,13576,NULL,'Component of secretory vesicle machinery in developing neurons that acts as a regulator of neurite outgrowth. Regulates the secretory vesicle transport by controlling the accumulation of Rab6-containing secretory vesicles in the pericentrosomal region restricting anterograde secretory transport during the early phase of neuronal differentiation, thereby inhibiting neuritogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(11298,'UniProt Function',NULL,13578,NULL,'Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner.',NULL,NULL,NULL,NULL,NULL),(11299,'UniProt Function',NULL,13579,NULL,'The major proteolytic product p15 BID allows the release of cytochrome c (By similarity). Isoform 1, isoform 2 and isoform 4 induce ICE-like proteases and apoptosis. Isoform 3 does not induce apoptosis. Counters the protective effect of Bcl-2.',NULL,NULL,NULL,NULL,NULL),(11300,'UniProt Function',NULL,13580,NULL,'Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor.',NULL,NULL,NULL,NULL,NULL),(11301,'UniProt Function',NULL,13581,NULL,'Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development.',NULL,NULL,NULL,NULL,NULL),(11302,'UniProt Function',NULL,13582,NULL,'Anti-apoptotic protein which acts by inhibiting the activities of CASP3, CASP7 and CASP9. Can inhibit the autocleavage of pro-CASP9 and cleavage of pro-CASP3 by CASP9. Capable of inhibiting CASP9 autoproteolysis at \'Asp-315\' and decreasing the rate of auto proteolysis at \'Asp-330\'. Acts as a mediator of neuronal survival in pathological conditions. Prevents motor-neuron apoptosis induced by a variety of signals. Possible role in the prevention of spinal muscular atrophy that seems to be caused by inappropriate persistence of motor-neuron apoptosis: mutated or deleted forms of NAIP have been found in individuals with severe spinal muscular atrophy.',NULL,NULL,NULL,NULL,NULL),(11303,'UniProt Function',NULL,13582,NULL,'Acts as a sensor component of the NLRC4 inflammasome that specifically recognizes and binds needle protein CprI from pathogenic bacteria C.violaceum. Association of pathogenic bacteria proteins drives in turn drive assembly and activation of the NLRC4 inflammasome, promoting caspase-1 activation, cytokine production and macrophage pyroptosis. The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria such as C.violaceum and L.pneumophila.',NULL,NULL,NULL,NULL,NULL),(11304,'UniProt Function',NULL,13584,NULL,'Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control. Its anti-apoptotic activity is mediated through the inhibition of CASP3, CASP7 and CASP9, as well as by its E3 ubiquitin-protein ligase activity. As it is a weak caspase inhibitor, its anti-apoptotic activity is thought to be due to its ability to ubiquitinate DIABLO/SMAC targeting it for degradation thereby promoting cell survival. May contribute to caspase inhibition, by blocking the ability of DIABLO/SMAC to disrupt XIAP/BIRC4-caspase interactions. Protects against apoptosis induced by TNF or by chemical agents such as adriamycin, etoposide or staurosporine. Suppression of apoptosis is mediated by activation of MAPK8/JNK1, and possibly also of MAPK9/JNK2. This activation depends on TAB1 and NR2C2/TAK1. In vitro, inhibits CASP3 and proteolytic activation of pro-CASP9. Isoform 1 blocks staurosporine-induced apoptosis. Isoform 2 blocks etoposide-induced apoptosis. Isoform 2 protects against natural killer (NK) cell killing whereas isoform 1 augments killing.',NULL,NULL,NULL,NULL,NULL),(11305,'UniProt Function',NULL,13585,NULL,'Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3\'-UTR of mRNAs and regulating their translation (By similarity).',NULL,NULL,NULL,NULL,NULL),(11306,'UniProt Function',NULL,13586,NULL,'Required for maintaining the proliferative activity of embryonic cardiomyocytes by preventing premature activation of the negative cell cycle regulator CDKN1C/p57KIP and maintaining the required expression levels of cardiogenic factors such as MEF2C and NKX2-5. Acts as a ligand for ACVRL1/ALK1, BMPR1A/ALK3 and BMPR1B/ALK6, leading to activation of SMAD1, SMAD5 and SMAD8 transcription factors. Inhibits endothelial cell migration and growth. May reduce cell migration and cell matrix adhesion in breast cancer cell lines.',NULL,NULL,NULL,NULL,NULL),(11307,'UniProt Function',NULL,13587,NULL,'Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release (PubMed:24318877, PubMed:9873016).',NULL,NULL,NULL,NULL,NULL),(11308,'UniProt Function',NULL,13588,NULL,'Promotes cell death. Successfully competes for the binding to Bcl-X(L), Bcl-2 and Bcl-W, thereby affecting the level of heterodimerization of these proteins with BAX. Can reverse the death repressor activity of Bcl-X(L), but not that of Bcl-2 (By similarity). Appears to act as a link between growth factor receptor signaling and the apoptotic pathways.',NULL,NULL,NULL,NULL,NULL),(11309,'UniProt Function',NULL,13589,NULL,'Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity (By similarity). Binds to a regulatory module of the NCAM promoter.',NULL,NULL,NULL,NULL,NULL),(11310,'UniProt Function',NULL,13590,NULL,'Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids.',NULL,NULL,NULL,NULL,NULL),(11311,'UniProt Function',NULL,13591,NULL,'Asymmetrically cleaves beta-carotene at the 9\',10\' double bond resulting in the formation of beta-apo-10\'-carotenal and beta-ionone. Besides beta-carotene, lycopene is also oxidatively cleaved. The apocarotenals formed by this enzyme may be the precursors for the biosynthesis of retinoic acid or exert unknown physiological effects.',NULL,NULL,NULL,NULL,NULL),(11312,'UniProt Function',NULL,13592,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(11313,'UniProt Function',NULL,13593,NULL,'The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for BBSome complex ciliary localization but not for the proper complex assembly.',NULL,NULL,NULL,NULL,NULL),(11314,'UniProt Function',NULL,13594,NULL,'The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.',NULL,NULL,NULL,NULL,NULL),(11315,'UniProt Function',NULL,13595,NULL,'Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis (PubMed:11463391). Functions by promoting partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53. Regulates ER stress-induced neuronal apoptosis (PubMed:23340338).',NULL,NULL,NULL,NULL,NULL),(11316,'UniProt Function',NULL,13596,NULL,'Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2.',NULL,NULL,NULL,NULL,NULL),(11317,'UniProt Function',NULL,13597,NULL,'Controls V(D)J recombination during T-cell development by repressing T-cell receptor (TCR) beta enhancer function. Binds to scaffold/matrix attachment region beta (S/MARbeta), an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Represses cyclin D1 transcription by recruiting HDAC1 to its promoter, thereby diminishing H3K9ac, H3S10ph and H4K8ac levels. Promotes TP53 \'Ser-15\' phosphorylation and nuclear accumulation, which causes cell cycle arrest (By similarity).',NULL,NULL,NULL,NULL,NULL),(11318,'UniProt Function',NULL,13598,NULL,'Involved in signal transduction through the Wnt pathway. Promotes beta-catenin\'s transcriptional activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(11319,'UniProt Function',NULL,13599,NULL,'Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor.',NULL,NULL,NULL,NULL,NULL),(11320,'UniProt Function',NULL,13600,NULL,'Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785).',NULL,NULL,NULL,NULL,NULL),(11321,'UniProt Function',NULL,13601,NULL,'Contributes to the regulation of transcriptional activation of NF-kappa-B target genes. In the cytoplasm, inhibits the nuclear translocation of the NF-kappa-B p50 subunit. In the nucleus, acts as transcriptional activator that promotes transcription of NF-kappa-B target genes. Contributes to the regulation of cell proliferation (By similarity).',NULL,NULL,NULL,NULL,NULL),(11322,'UniProt Function',NULL,13602,NULL,'General activator of RNA polymerase III transcription. Requires for transcription from all three types of polymerase III promoters. Requires for transcription of genes with internal promoter elements and with promoter elements upstream of the initiation site.',NULL,NULL,NULL,NULL,NULL),(11323,'UniProt Function',NULL,13605,NULL,'Acts as a transcriptional repressor (PubMed:23468431).',NULL,NULL,NULL,NULL,NULL),(11324,'UniProt Function',NULL,13609,NULL,'Plays an important role in the degradation of dermatan and keratan sulfates.',NULL,NULL,NULL,NULL,NULL),(11325,'UniProt Function',NULL,13611,NULL,'Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline.',NULL,NULL,NULL,NULL,NULL),(11326,'UniProt Function',NULL,13612,NULL,'Involved in cytokinesis and septation where it has a role in the localization of F-actin.',NULL,NULL,NULL,NULL,NULL),(11327,'UniProt Function',NULL,13614,NULL,'May regulate cell proliferation and coordinate apoptosis and cell cycle progression via a novel mechanism independent of both p53/TP53 and NF-kappa-B.',NULL,NULL,NULL,NULL,NULL),(11328,'UniProt Function',NULL,13615,NULL,'May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus.',NULL,NULL,NULL,NULL,NULL),(11329,'UniProt Function',NULL,13616,NULL,'Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins. Necessary for CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth. Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting filopodial protrusions.',NULL,NULL,NULL,NULL,NULL),(11330,'UniProt Function',NULL,13617,NULL,'Negatively regulates TGF-beta signaling.',NULL,NULL,NULL,NULL,NULL),(11331,'UniProt Function',NULL,13618,NULL,'E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of \'Lys-6\'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3\' cleavage.',NULL,NULL,NULL,NULL,NULL),(11332,'UniProt Function',NULL,13620,NULL,'Required for box C/D snoRNAs accumulation involved in snoRNA processing, snoRNA transport to the nucleolus and ribosome biogenesis.',NULL,NULL,NULL,NULL,NULL),(11333,'UniProt Function',NULL,13621,NULL,'Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184).',NULL,NULL,NULL,NULL,NULL),(11334,'UniProt Function',NULL,13622,NULL,'Symmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism.',NULL,NULL,NULL,NULL,NULL),(11335,'UniProt Function',NULL,13623,NULL,'Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3\'end of the CCND1 gene and its mRNA.',NULL,NULL,NULL,NULL,NULL),(11336,'UniProt Function',NULL,13624,NULL,'Vesicle SNARE required for targeting and fusion of retrograde transport vesicles with the Golgi complex. Required for the integrity of the Golgi complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(11337,'UniProt Function',NULL,13625,NULL,'Component of centriolar satellites contributing to the building of a complex and dynamic network required to regulate cilia/flagellum formation (PubMed:17954613, PubMed:24185901). In proliferating cells, MIB1-mediated ubiquitination induces its sequestration within centriolar satellites, precluding untimely cilia formation initiation (PubMed:24121310). In contrast, during normal and ultraviolet or heat shock cellular stress-induced ciliogenesis, its non-ubiquitinated form is rapidly displaced from centriolar satellites and recruited to centrosome/basal bodies in a microtubule- and p38 MAPK-dependent manner (PubMed:24121310, PubMed:26616734). Acts also as a negative regulator of BBSome ciliary trafficking (PubMed:24550735). Plays a role in sperm flagellar formation; may be involved in the regulation of intraflagellar transport (IFT) and/or intramanchette (IMT) trafficking, which are important for axoneme extension and/or cargo delivery to the nascent sperm tail (By similarity). Required for optimal cell proliferation and cell cycle progression; may play a role in the regulation of genome stability in non-ciliogenic cells (PubMed:22797915, PubMed:26297806). Involved in centriole duplication (By similarity). Required for CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806).',NULL,NULL,NULL,NULL,NULL),(11338,'UniProt Function',NULL,13626,NULL,'Transcriptional repressor which associates with the NoRC (nucleolar remodeling complex) complex and plays a key role in repressing rDNA transcription. The sumoylated form modulates the stability of the NoRC complex component BAZ2A/TIP5 by controlling its USP21-mediated deubiquitination (PubMed:21914818, PubMed:26100909). Binds to unmethylated major satellite DNA and is involved in the recruitment of the Polycomb repressive complex 2 (PRC2) to major satellites (By similarity). Stimulates the ERCC6L translocase and ATPase activities (PubMed:28977671).',NULL,NULL,NULL,NULL,NULL),(11339,'UniProt Function',NULL,13627,NULL,'Involved in stabilization of lens fiber cell cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(11340,'UniProt Function',NULL,13628,NULL,'Conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetal life and at puberty.',NULL,NULL,NULL,NULL,NULL),(11341,'UniProt Function',NULL,13629,NULL,'Suppressor of apoptosis (PubMed:21075086). Modulates unfolded protein response signaling (PubMed:21075086). Modulates ER calcium homeostasis by acting as a calcium-leak channel (PubMed:22128171). Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation (By similarity).',NULL,NULL,NULL,NULL,NULL),(11342,'UniProt Function',NULL,13630,NULL,'Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis.',NULL,NULL,NULL,NULL,NULL),(11343,'UniProt Function',NULL,13631,NULL,'Phosphoinositides-binding protein that induces the formation of planar or gently curved membrane structures. Binds to phosphoinositides, including to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) headgroups. There seems to be no clear preference for a specific phosphoinositide (By similarity).',NULL,NULL,NULL,NULL,NULL),(11344,'UniProt Function',NULL,13632,NULL,'This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation.',NULL,NULL,NULL,NULL,NULL),(11345,'UniProt Function',NULL,13633,NULL,'Functions as a proapoptotic molecule through the caspase-dependent mitochondrial pathway of cell death.',NULL,NULL,NULL,NULL,NULL),(11346,'UniProt Function',NULL,13634,NULL,'Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (PubMed:17182842). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167).',NULL,NULL,NULL,NULL,NULL),(11347,'UniProt Function',NULL,13634,NULL,'May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9.',NULL,NULL,NULL,NULL,NULL),(11348,'UniProt Function',NULL,13635,NULL,'Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking.',NULL,NULL,NULL,NULL,NULL),(11349,'UniProt Function',NULL,13636,NULL,'Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, mitogenic kinase signaling and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and regulates both canonical and non-canonical NF-kappa-B signaling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signaling. The target proteins for its E3 ubiquitin-protein ligase activity include: RIPK1, RIPK2, RIPK3, RIPK4, CASP3, CASP7, CASP8, IKBKE, TRAF1, and BCL10. Acts as an important regulator of innate immune signaling via regulation of Toll-like receptors (TLRs), Nodlike receptors (NLRs) and RIG-I like receptors (RLRs), collectively referred to as pattern recognition receptors (PRRs). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8.',NULL,NULL,NULL,NULL,NULL),(11350,'UniProt Function',NULL,13637,NULL,'ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3\'-5\' direction (PubMed:9388193, PubMed:24816114, PubMed:25901030). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288). Involved in 5\'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5\'-ssDNA (PubMed:21325134). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution (PubMed:25901030). Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction (PubMed:20639533, PubMed:24257077, PubMed:25901030).',NULL,NULL,NULL,NULL,NULL),(11351,'UniProt Function',NULL,13640,NULL,'Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70 (PubMed:27474739, PubMed:9873016, PubMed:24318877). Inhibits the pro-apoptotic function of PPP1R15A, and has anti-apoptotic activity (PubMed:12724406). Markedly increases the anti-cell death function of BCL2 induced by various stimuli (PubMed:9305631).',NULL,NULL,NULL,NULL,NULL),(11352,'UniProt Function',NULL,13641,NULL,'Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release (By similarity). Prevents constitutive TNFRSF1A signaling. Negative regulator of PRKN translocation to damaged mitochondria.',NULL,NULL,NULL,NULL,NULL),(11353,'UniProt Function',NULL,13642,NULL,'Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. May play an important physiological function in brain. May play a regulatory role by modulating the cellular levels of fatty acyl-CoA ligands for certain transcription factors as well as the substrates for fatty acid metabolizing enzymes, contributing to lipid homeostasis. Has broad specificity, active towards fatty acyl-CoAs with chain-lengths of C8-C18. Has a maximal activity toward palmitoyl-CoA.',NULL,NULL,NULL,NULL,NULL),(11354,'UniProt Function',NULL,13643,NULL,'Plays a role in the mitochondrial apoptotic process. Under normal conditions, BAX is largely cytosolic via constant retrotranslocation from mitochondria to the cytosol mediated by BCL2L1/Bcl-xL, which avoids accumulation of toxic BAX levels at the mitochondrial outer membrane (MOM) (PubMed:21458670). Under stress conditions, undergoes a conformation change that causes translocation to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes activation of CASP3, and thereby apoptosis.',NULL,NULL,NULL,NULL,NULL),(11355,'UniProt Function',NULL,13644,NULL,'Component of the ACF complex, an ATP-dependent chromatin remodeling complex, that regulates spacing of nucleosomes using ATP to generate evenly spaced nucleosomes along the chromatin. The ATPase activity of the complex is regulated by the length of flanking DNA. Also involved in facilitating the DNA replication process. BAZ1A is the accessory, non-catalytic subunit of the complex which can enhance and direct the process provided by the ATPase subunit, SMARCA5, probably through targeting pericentromeric heterochromatin in late S phase. Moves end-positioned nucleosomes to a predominantly central position. May have a role in nuclear receptor-mediated transcription repression.',NULL,NULL,NULL,NULL,NULL),(11356,'UniProt Function',NULL,13644,NULL,'Component of the histone-fold protein complex CHRAC complex which facilitates nucleosome sliding by the ACF complex and enhances ACF-mediated chromatin assembly. The C-terminal regions of both CHRAC1 and POLE1 are required for these functions.',NULL,NULL,NULL,NULL,NULL),(11357,'UniProt Function',NULL,13646,NULL,'The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.',NULL,NULL,NULL,NULL,NULL),(11358,'UniProt Function',NULL,13647,NULL,'Component of the fork protection machinery required to protect stalled/damaged replication forks from uncontrolled DNA2-dependent resection. Acts by stabilizing RAD51 at stalled replication forks and protecting RAD51 nucleofilaments from the antirecombinogenic activities of FBH1 and BLM (PubMed:26166705). Does not regulate spindle orientation (PubMed:26166705).',NULL,NULL,NULL,NULL,NULL),(11359,'UniProt Function',NULL,13648,NULL,'During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribution to a range of adaptive neuronal responses including long-term potentiation (LTP), long-term depression (LTD), certain forms of short-term synaptic plasticity, as well as homeostatic regulation of intrinsic neuronal excitability.',NULL,NULL,NULL,NULL,NULL),(11360,'UniProt Function',NULL,13649,NULL,'Plays a central role in autophagy (PubMed:23184933, PubMed:28445460). Acts as core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123, PubMed:20208530, PubMed:26783301). Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Involved in endocytosis (PubMed:25275521). Protects against infection by a neurovirulent strain of Sindbis virus (PubMed:9765397). May play a role in antiviral host defense.',NULL,NULL,NULL,NULL,NULL),(11361,'UniProt Function',NULL,13649,NULL,'Beclin-1-C 35 kDa localized to mitochondria can promote apoptosis; it induces the mitochondrial translocation of BAX and the release of proapoptotic factors.',NULL,NULL,NULL,NULL,NULL),(11362,'UniProt Function',NULL,13650,NULL,'Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity). In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization. May be required for the survival of a specific population of inhibitory neurons in the superficial laminae of the spinal chord dorsal horn that may regulate pruritis. Seems to play a crucial role in the retinogenesis, in the specification of amacrine and bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation.',NULL,NULL,NULL,NULL,NULL),(11363,'UniProt Function',NULL,13651,NULL,'Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Required in muscle cells for the formation of T-tubules, tubular invaginations of the plasma membrane that function in depolarization-contraction coupling (PubMed:24755653). Is a negative regulator of endocytosis (By similarity). Is also involved in the regulation of intracellular vesicles sorting, modulation of BACE1 trafficking and the control of amyloid-beta production (PubMed:27179792). In neuronal circuits, endocytosis regulation may influence the internalization of PHF-tau aggregates (By similarity). May be involved in the regulation of MYC activity and the control cell proliferation (PubMed:8782822). Has actin bundling activity and stabilizes actin filaments against depolymerization in vitro (PubMed:28893863).',NULL,NULL,NULL,NULL,NULL),(11364,'UniProt Function',NULL,13652,NULL,'Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses.',NULL,NULL,NULL,NULL,NULL),(11365,'UniProt Function',NULL,13653,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for synaptic transmission (PubMed:19782033). The BCR(KCTD13) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome (PubMed:19782033) Degradation of RHOA regulates the actin cytoskeleton and promotes synaptic transmission (By similarity).',NULL,NULL,NULL,NULL,NULL),(11366,'UniProt Function',NULL,13655,NULL,'Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP, leads to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. Cleaves APP with much more catalytic efficiency than for the wild-type.',NULL,NULL,NULL,NULL,NULL),(11367,'UniProt Function',NULL,13656,NULL,'Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672. Responsible also for the proteolytic processing of CLTRN in pancreatic beta cells (PubMed:21907142).',NULL,NULL,NULL,NULL,NULL),(11368,'UniProt Function',NULL,13657,NULL,'Inhibits both auto-ubiquitination of PRKN and ubiquitination of target proteins by PRKN (By similarity). May function as a nucleotide exchange factor for HSP/HSP70, promoting ADP release, and activating Hsp70-mediated refolding.',NULL,NULL,NULL,NULL,NULL),(11369,'UniProt Function',NULL,13658,NULL,'Potential regulator of neural basic helix-loop-helix genes.',NULL,NULL,NULL,NULL,NULL),(11370,'UniProt Function',NULL,13659,NULL,'AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system. Following infection, participates in the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5\'-TGA[CG]TCA-3\' and regulates expression of target genes (By similarity). Selectively suppresses CYR61/CCN1 transcription and hence blocks the downstream cell proliferation signals produced by CYR61 and inhibits CYR61-induced anchorage-independent growth and invasion in several cancer types, such as breast cancer, malignant glioma and metastatic melanoma. Possibly acts by interfering with AP-1 binding to CYR61 promoter.',NULL,NULL,NULL,NULL,NULL),(11371,'UniProt Function',NULL,13660,NULL,'Transcription factor. Binds optimally to the DNA consensus sequence 5\'-YYTAATGRTTTTY-3\'. May control the expression of neural adhesion molecules such as L1 or Ng-CAM during embryonic development of both the central and peripherical nervous system. May be involved in controlling adhesive processes in keratinizing epithelia (By similarity).',NULL,NULL,NULL,NULL,NULL),(11372,'UniProt Function',NULL,13661,NULL,'This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.',NULL,NULL,NULL,NULL,NULL),(11373,'UniProt Function',NULL,13662,NULL,'May play a role in transcriptional regulation interacting with ISWI.',NULL,NULL,NULL,NULL,NULL),(11374,'UniProt Function',NULL,13663,NULL,'Signaling adapter that contributes to B-cell development by linking B-cell receptor (BCR) signaling to the phosphoinositide 3-kinase (PI3K)-Akt signaling pathway. Has a complementary role to the BCR coreceptor CD19, coupling BCR and PI3K activation by providing a docking site for the PI3K subunit PIK3R1. Alternatively, links Toll-like receptor (TLR) signaling to PI3K activation, a process preventing excessive inflammatory cytokine production. Also involved in the activation of PI3K in natural killer cells. May be involved in the survival of mature B-cells via activation of REL.',NULL,NULL,NULL,NULL,NULL),(11375,'UniProt Function',NULL,13664,NULL,'Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion. Implicated in induction of cell migration. Overexpression confers antiestrogen resistance on breast cancer cells.',NULL,NULL,NULL,NULL,NULL),(11376,'UniProt Function',NULL,13666,NULL,'Component of chromatin complexes such as the MLL1/MLL and NURF complexes.',NULL,NULL,NULL,NULL,NULL),(11377,'UniProt Function',NULL,13667,NULL,'Regulator of mitochondrial apoptosis and G1 cell cycle in breast cancer. Protects the breast cancer cells against mitochondrial apoptosis and this effect is mediated through the modulation of BCL2 protein family, which involves the positive regulation of anti-apoptotic member BCL2 and the negative regulation of pro-apoptotic members BAD, BAK1 and PUMA. Required for the normal cell cycle progression during G1 in breast cancer cells through the regulation of CCND1 and CDKN1A. Regulates the level of PP2A regulatory subunit B and PP2A phosphatase activity.',NULL,NULL,NULL,NULL,NULL),(11378,'UniProt Function',NULL,13668,NULL,'Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors.',NULL,NULL,NULL,NULL,NULL),(11379,'UniProt Function',NULL,13669,NULL,'Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor.',NULL,NULL,NULL,NULL,NULL),(11380,'UniProt Function',NULL,13670,NULL,'Binds CRF and inactivates it. May prevent inappropriate pituitary-adrenal stimulation in pregnancy.',NULL,NULL,NULL,NULL,NULL),(11381,'UniProt Function',NULL,13671,NULL,'Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates and stabilizes the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (By similarity). Facilitates the binding of RAB6A to the Golgi by stabilizing its GTP-bound form. Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport via its interaction with RAB6A and recruitment of the dynein-dynactin motor complex (PubMed:25962623). Contributes to nuclear and centrosomal positioning prior to mitotic entry through regulation of both dynein and kinesin-1. During G2 phase of the cell cycle, associates with RANBP2 at the nuclear pores and recruits dynein and dynactin to the nuclear envelope to ensure proper positioning of the nucleus relative to centrosomes prior to the onset of mitosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(11382,'UniProt Function',NULL,13672,NULL,'Participates in the regulation of systemic glucose homeostasis, where it negatively regulates insulin granule biogenesis in pancreatic islet beta cells (By similarity). Also regulates glucagon granule production in pancreatic alpha cells (By similarity). Inhibits nuclear translocation of the transcriptional coregulator PHB2 and may enhance estrogen receptor alpha (ESR1) transcriptional activity in breast cancer cells (PubMed:19496786).',NULL,NULL,NULL,NULL,NULL),(11383,'UniProt Function',NULL,13674,NULL,'May play a role in postsynaptic function. The C-terminal gamma-secretase processed fragment, ALID1, activates transcription activation through APBB1 (Fe65) binding (By similarity). Couples to JIP signal transduction through C-terminal binding. May interact with cellular G-protein signaling pathways. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I.',NULL,NULL,NULL,NULL,NULL),(11384,'UniProt Function',NULL,13674,NULL,'The gamma-CTF peptide, C30, is a potent enhancer of neuronal apoptosis.',NULL,NULL,NULL,NULL,NULL),(11385,'UniProt Function',NULL,13675,NULL,'Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on \'Tyr-142\' (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1. Required for histone H4 acetylation at double-strand breaks (DSBs). Its ability to specifically bind modified histones and chromatin modifying enzymes such as KAT5/TIP60, probably explains its transcription activation activity. Function in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s).',NULL,NULL,NULL,NULL,NULL),(11386,'UniProt Function',NULL,13676,NULL,'Probably involved in lipid transport. Can bind sphingosine-1-phosphate, myristic acid, palmitic acid and stearic acid, retinol, all-trans-retinoic acid and 9-cis-retinoic acid.',NULL,NULL,NULL,NULL,NULL),(11387,'UniProt Function',NULL,13677,NULL,'May participate in lipoprotein metabolism.',NULL,NULL,NULL,NULL,NULL),(11388,'UniProt Function',NULL,13678,NULL,'Function as a weak apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5\'-deoxyribose phosphate and 3\'-hydroxyl ends. Displays also double-stranded DNA 3\'-5\' exonuclease, 3\'-phosphodiesterase activities. Shows robust 3\'-5\' exonuclease activity on 3\'-recessed heteroduplex DNA and is able to remove mismatched nucleotides preferentially. Shows fairly strong 3\'-phosphodiesterase activity involved in the removal of 3\'-damaged termini formed in DNA by oxidative agents. In the nucleus functions in the PCNA-dependent BER pathway. Required for somatic hypermutation (SHM) and DNA cleavage step of class switch recombination (CSR) of immunoglobulin genes. Required for proper cell cycle progression during proliferation of peripheral lymphocytes.',NULL,NULL,NULL,NULL,NULL),(11389,'UniProt Function',NULL,13679,NULL,'Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea.',NULL,NULL,NULL,NULL,NULL),(11390,'UniProt Function',NULL,13681,NULL,'Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May also regulate the TOR signaling cascade.',NULL,NULL,NULL,NULL,NULL),(11391,'UniProt Function',NULL,13681,NULL,'Isoform 2: Serves as a positive regulator of myogenic differentiation by inducing cell cycle arrest, the expression of myogenin and other muscle-specific proteins, and myotube formation.',NULL,NULL,NULL,NULL,NULL),(11392,'UniProt Function',NULL,13682,NULL,'GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Implicated in coatomer-mediated protein transport between the Golgi complex and the endoplasmic reticulum. Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes.',NULL,NULL,NULL,NULL,NULL),(11393,'UniProt Function',NULL,13683,NULL,'Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient.',NULL,NULL,NULL,NULL,NULL),(11394,'UniProt Function',NULL,13684,NULL,'Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:11741539, PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:11741539, PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).',NULL,NULL,NULL,NULL,NULL),(11395,'UniProt Function',NULL,13685,NULL,'May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. It works as a guanine nucleotide exchange factor for Rho family of small GTPases. Links specifically G alpha q/11-coupled receptors to RHOA activation. May be an important regulator of processes involved in axon and dendrite formation. In neurons seems to be an exchange factor primarily for RAC1. Involved in skeletal myogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(11396,'UniProt Function',NULL,13687,NULL,'Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity).',NULL,NULL,NULL,NULL,NULL),(11397,'UniProt Function',NULL,13688,NULL,'GTP-binding protein that has very low efficiency as allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Can activate phospholipase D with very low efficiency. Important for normal function of the Golgi apparatus.',NULL,NULL,NULL,NULL,NULL),(11398,'UniProt Function',NULL,13689,NULL,'May play a role in cell survival and cell growth. May suppress the transcriptional activity of p53/TP53.',NULL,NULL,NULL,NULL,NULL),(11399,'UniProt Function',NULL,13691,NULL,'Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1.',NULL,NULL,NULL,NULL,NULL),(11400,'UniProt Function',NULL,13692,NULL,'Regulates mitochondrial aggregation and transport in axons in living neurons. May link mitochondria to the TRAK2-kinesin motor complex via its interaction with Miro and TRAK2. Mitochondrial distribution and dynamics is regulated through ARMCX3 protein degradation, which is promoted by PCK and negatively regulated by WNT1. Enhances the SOX10-mediated transactivation of the neuronal acetylcholine receptor subunit alpha-3 and beta-4 subunit gene promoters.',NULL,NULL,NULL,NULL,NULL),(11401,'UniProt Function',NULL,13694,NULL,'Required for checkpoint mediated cell cycle arrest in response to inhibition of DNA replication or to DNA damage induced by both ionizing and UV irradiation. Adapter protein which binds to BRCA1 and the checkpoint kinase CHEK1 and facilitates the ATR-dependent phosphorylation of both proteins. Can also bind specifically to branched DNA structures and may associate with S-phase chromatin following formation of the pre-replication complex (pre-RC). This may indicate a role for this protein as a sensor which monitors the integrity of DNA replication forks.',NULL,NULL,NULL,NULL,NULL),(11402,'UniProt Function',NULL,13695,NULL,'Receptor for cysteinyl leukotrienes. The response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Stimulation by BAY u9773, a partial agonist, induces specific contractions of pulmonary veins and might also have an indirect role in the relaxation of the pulmonary vascular endothelium. The rank order of affinities for the leukotrienes is LTC4 = LTD4 >> LTE4.',NULL,NULL,NULL,NULL,NULL),(11403,'UniProt Function',NULL,13696,NULL,'Required for cilia biogenesis. Appears to function within the multiple intraflagellar transport complex B (IFT-B). Key regulator of hedgehog signaling.',NULL,NULL,NULL,NULL,NULL),(11404,'UniProt Function',NULL,13699,NULL,'Required for assembly of mitochondrial respiratory chain complex I and complex IV.',NULL,NULL,NULL,NULL,NULL),(11405,'UniProt Function',NULL,13700,NULL,'May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.',NULL,NULL,NULL,NULL,NULL),(11406,'UniProt Function',NULL,13701,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and the central stalk which is part of the complex rotary element. The gamma subunit protrudes into the catalytic domain formed of alpha(3)beta(3). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits.',NULL,NULL,NULL,NULL,NULL),(11407,'UniProt Function',NULL,13702,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane.',NULL,NULL,NULL,NULL,NULL),(11408,'UniProt Function',NULL,13703,NULL,'Plays a role in the control of cell shape and motility in the trabecular meshwork.',NULL,NULL,NULL,NULL,NULL),(11409,'UniProt Function',NULL,13704,NULL,'Transcription factor that, in osteoblasts, activates the decoy receptor for RANKL, TNFRSF11B, which in turn regulates osteoclast differentiation. Acts in synergy with the Wnt-responsive LEF1/CTNNB1 pathway. Recognizes variations of the palindromic sequence 5\'-ATTCCCNNGGGAATT-3\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(11410,'UniProt Function',NULL,13705,NULL,'Transcriptional activator (PubMed:28017373, PubMed:28017372, PubMed:28017370). Recognizes variations of the palindromic sequence 5\'-ATTCCCNNGGGAATT-3\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(11411,'UniProt Function',NULL,13707,NULL,'Required for normal Golgi morphology and function.',NULL,NULL,NULL,NULL,NULL),(11412,'UniProt Function',NULL,13708,NULL,'May play a role in melanocortin signaling pathways that regulate energy homeostasis.',NULL,NULL,NULL,NULL,NULL),(11413,'UniProt Function',NULL,13709,NULL,'Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1.',NULL,NULL,NULL,NULL,NULL),(11414,'UniProt Function',NULL,13710,NULL,'Required for normal Golgi function.',NULL,NULL,NULL,NULL,NULL),(11415,'UniProt Function',NULL,13711,NULL,'Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix components occurring independently or along with elastin in the formation of elastic tissues.',NULL,NULL,NULL,NULL,NULL),(11416,'UniProt Function',NULL,13712,NULL,'Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates \'Ser-139\' of histone variant H2AX/H2AFX at sites of DNA damage, thereby regulating DNA damage response mechanism. Required for FANCD2 ubiquitination. Critical for maintenance of fragile site stability and efficient regulation of centrosome duplication.',NULL,NULL,NULL,NULL,NULL),(11417,'UniProt Function',NULL,13713,NULL,'Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.',NULL,NULL,NULL,NULL,NULL),(11418,'UniProt Function',NULL,13714,NULL,'Has a aminoprocollagen type I activity processing activity in the absence of ADAMTS2. Seems to be synthesized as a latent enzyme that requires activation to display aminoprocollagen peptidase activity.',NULL,NULL,NULL,NULL,NULL),(11419,'UniProt Function',NULL,13715,NULL,'Involved in mediating cell attachment and inducing integrin-mediated cellular reactions, such as cell spreading and alterations in cell morphology.',NULL,NULL,NULL,NULL,NULL),(11420,'UniProt Function',NULL,13718,NULL,'May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.',NULL,NULL,NULL,NULL,NULL),(11421,'UniProt Function',NULL,13718,NULL,'The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.',NULL,NULL,NULL,NULL,NULL),(11422,'UniProt Function',NULL,13719,NULL,'May play a role in tissue-remodeling process occurring in both normal and pathological conditions. May have a protease-independent function in the transport from the endoplasmic reticulum to the Golgi apparatus of secretory cargos, mediated by the GON domain.',NULL,NULL,NULL,NULL,NULL),(11423,'UniProt Function',NULL,13720,NULL,'Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis.',NULL,NULL,NULL,NULL,NULL),(11424,'UniProt Function',NULL,13721,NULL,'Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important role in the destruction of aggrecan in arthritic diseases. Could also be a critical factor in the exacerbation of neurodegeneration in Alzheimer disease. Cleaves aggrecan at the \'392-Glu-|-Ala-393\' site.',NULL,NULL,NULL,NULL,NULL),(11425,'UniProt Function',NULL,13722,NULL,'May act as a cross-bridge between fibrils and other extracellular matrix molecules. Involved in skeletal myogenesis in the developing esophagus. May play a role in organization of the pericellular matrix or the sphinteric smooth muscle.',NULL,NULL,NULL,NULL,NULL),(11426,'UniProt Function',NULL,13723,NULL,'Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism (PubMed:21475249). In concert with CIC and ATXN1L, involved in brain development (By similarity).',NULL,NULL,NULL,NULL,NULL),(11427,'UniProt Function',NULL,13724,NULL,'Metalloprotease that may play a role in the degradation of COMP.',NULL,NULL,NULL,NULL,NULL),(11428,'UniProt Function',NULL,13725,NULL,'Lectin that binds to various sugars: galactose > mannose = fucose > N-acetylglucosamine > N-acetylgalactosamine (PubMed:10224141). Acts as a chemoattractant, probably involved in the regulation of cell migration (PubMed:28301481).',NULL,NULL,NULL,NULL,NULL),(11429,'UniProt Function',NULL,13726,NULL,'Has anti-angiogenic properties.',NULL,NULL,NULL,NULL,NULL),(11430,'UniProt Function',NULL,13727,NULL,'Lectin that plays a role in innate immunity, apoptosis and embryogenesis (PubMed:23954398, PubMed:25912189, PubMed:21258343). Calcium-dependent lectin that binds self and non-self glycoproteins presenting high mannose oligosaccharides with at least one terminal alpha-1,2-linked mannose epitope (PubMed:25912189). Primarily recognizes the terminal disaccharide of the glycan (PubMed:25912189). Also recognizes a subset of fucosylated glycans and lipopolysaccharides (PubMed:17179669, PubMed:25912189). Plays a role in innate immunity through its ability to bind non-self sugars presented by microorganisms and to activate the complement through the recruitment of MAPS1 (PubMed:20956340, PubMed:25912189). Also plays a role in apoptosis through its ability to bind in a calcium-independent manner the DNA present at the surface of apoptotic cells and to activate the complement in response to this binding (Probable). Finally, plays a role in development, probably serving as a guidance cue during the migration of neural crest cells and other cell types during embryogenesis (PubMed:21258343, PubMed:28301481).',NULL,NULL,NULL,NULL,NULL),(11431,'UniProt Function',NULL,13728,NULL,'Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(11432,'UniProt Function',NULL,13729,NULL,'Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA (PubMed:11738050, PubMed:12434311, PubMed:12655555). Also has itaconyl-CoA hydratase activity by converting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite (PubMed:29056341). Has very low enoyl-CoA hydratase activity (PubMed:7892223). Was originally identified as RNA-binding protein that binds in vitro to clustered 5\'-AUUUA-3\' motifs (PubMed:7892223).',NULL,NULL,NULL,NULL,NULL),(11433,'UniProt Function',NULL,13730,NULL,'Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:17696782, PubMed:23625928, PubMed:28445460, PubMed:16118278). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (PubMed:17696782). Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription (PubMed:12297501). Regulates autophagy via the deubiquitination of \'Lys-402\' of BECN1 leading to the stabilization of BECN1 (PubMed:28445460).',NULL,NULL,NULL,NULL,NULL),(11434,'UniProt Function',NULL,13732,NULL,'Mitotic serine/threonine kinase that contributes to the regulation of cell cycle progression. Associates with the centrosome and the spindle microtubules during mitosis and plays a critical role in various mitotic events including the establishment of mitotic spindle, centrosome duplication, centrosome separation as well as maturation, chromosomal alignment, spindle assembly checkpoint, and cytokinesis. Required for initial activation of CDK1 at centrosomes. Phosphorylates numerous target proteins, including ARHGEF2, BORA, BRCA1, CDC25B, DLGP5, HDAC6, KIF2A, LATS2, NDEL1, PARD3, PPP1R2, PLK1, RASSF1, TACC3, p53/TP53 and TPX2. Regulates KIF2A tubulin depolymerase activity. Required for normal axon formation. Plays a role in microtubule remodeling during neurite extension. Important for microtubule formation and/or stabilization. Also acts as a key regulatory component of the p53/TP53 pathway, and particularly the checkpoint-response pathways critical for oncogenic transformation of cells, by phosphorylating and stabilizing p53/TP53. Phosphorylates its own inhibitors, the protein phosphatase type 1 (PP1) isoforms, to inhibit their activity. Necessary for proper cilia disassembly prior to mitosis.',NULL,NULL,NULL,NULL,NULL),(11435,'UniProt Function',NULL,13733,NULL,'Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A \'Lys-119\', rendering chromatin heritably changed in its expressibility (PubMed:25519132). The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As a consequence, the complex mediates transcriptional activation (PubMed:25519132). In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(11436,'UniProt Function',NULL,13734,NULL,'Recruits HSPA8/HSC70 to clathrin-coated vesicles and promotes uncoating of clathrin-coated vesicles. Plays a role in clathrin-mediated endocytosis in neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(11437,'UniProt Function',NULL,13735,NULL,'Corticotropin: Stimulates the adrenal glands to release cortisol.',NULL,NULL,NULL,NULL,NULL),(11438,'UniProt Function',NULL,13735,NULL,'Melanocyte-stimulating hormone alpha: Anorexigenic peptide. Increases the pigmentation of skin by increasing melanin production in melanocytes.',NULL,NULL,NULL,NULL,NULL),(11439,'UniProt Function',NULL,13735,NULL,'Melanocyte-stimulating hormone beta: Increases the pigmentation of skin by increasing melanin production in melanocytes.',NULL,NULL,NULL,NULL,NULL),(11440,'UniProt Function',NULL,13735,NULL,'Beta-endorphin: Endogenous orexigenic opiate.',NULL,NULL,NULL,NULL,NULL),(11441,'UniProt Function',NULL,13735,NULL,'Met-enkephalin: Endogenous opiate.',NULL,NULL,NULL,NULL,NULL),(11442,'UniProt Function',NULL,13736,NULL,'Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.',NULL,NULL,NULL,NULL,NULL),(11443,'UniProt Function',NULL,13737,NULL,'May be involved in MAP kinase activation, epithelial sodium channel (ENaC) down-regulation and cell cycling.',NULL,NULL,NULL,NULL,NULL),(11444,'UniProt Function',NULL,13738,NULL,'Colipase is a cofactor of pancreatic lipase. It allows the lipase to anchor itself to the lipid-water interface. Without colipase the enzyme is washed off by bile salts, which have an inhibitory effect on the lipase.',NULL,NULL,NULL,NULL,NULL),(11445,'UniProt Function',NULL,13738,NULL,'Enterostatin has a biological activity as a satiety signal.',NULL,NULL,NULL,NULL,NULL),(11446,'UniProt Function',NULL,13739,NULL,'On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A. Mediates induction of adipogenesis by GDF6 (By similarity).',NULL,NULL,NULL,NULL,NULL),(11447,'UniProt Function',NULL,13740,NULL,'May act as a receptor for annexin II on marrow stromal cells to induce osteoclast formation.',NULL,NULL,NULL,NULL,NULL),(11448,'UniProt Function',NULL,13741,NULL,'Proposed scaffold protein that is implicated in diverse physiological processes and whose function may be in part linked to its ability to regulate ubiquitination of specific cellular proteins. Can modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes by displacing CAND1; in vitro promotes CRL E3 activity and dissociates CAND1 from CUL1 and CUL2 (PubMed:21778237). Promotes ubiquitination of NF-kappa-B subunit RELA and its subsequent proteasomal degradation. Down-regulates NF-kappa-B activity (PubMed:15799966, PubMed:17183367, PubMed:20048074). Involved in the regulation of membrane expression and ubiquitination of SLC12A2 (PubMed:23515529). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits and by promoting their ubiquitination presumably involving NEDD4L. Promotes the localization of SCNN1D to recycling endosomes (PubMed:14645214, PubMed:20237237, PubMed:21741370). Promotes CFTR cell surface expression through regulation of its ubiquitination (PubMed:21483833). Down-regulates SOD1 activity by interfering with its homodimerization (PubMed:20595380). Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947). Can bind one copper ion per monomer (PubMed:17309234). May function to facilitate biliary copper excretion within hepatocytes. Binds to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) (PubMed:18940794). Involved in the regulation of HIF1A-mediated transcription; competes with ARNT/Hif-1-beta for binding to HIF1A resulting in decreased DNA binding and impaired transcriptional activation by HIF-1 (PubMed:20458141). Negatively regulates neuroblastoma G1/S phase cell cycle progression and cell proliferation by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a FAM107A- and actin-dependent manner (PubMed:28604741).',NULL,NULL,NULL,NULL,NULL),(11449,'UniProt Function',NULL,13742,NULL,'May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits (PubMed:23637203).',NULL,NULL,NULL,NULL,NULL),(11450,'UniProt Function',NULL,13743,NULL,'May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966).',NULL,NULL,NULL,NULL,NULL),(11451,'UniProt Function',NULL,13744,NULL,'Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. AZI is an enzymatically inactive ODC homolog that counteracts the negative effect of ODC antizymes (AZs) OAZ1, OAZ2 and OAZ3 on ODC activity by competing with ODC for antizyme-binding (PubMed:17900240). Inhibits antizyme-dependent ODC degradation and releases ODC monomers from their inactive complex with antizymes, leading to formation of the catalytically active ODC homodimer and restoring polyamine production (PubMed:17900240). Participates in the morphological integrity of the trans-Golgi network (TGN) and functions as a regulator of intracellular secretory vesicle trafficking (PubMed:20188728).',NULL,NULL,NULL,NULL,NULL),(11452,'UniProt Function',NULL,13745,NULL,'The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors. Plays a functional role in facilitating the transport of kappa-type opioid receptor mRNAs into axons and enhances translation of these proteins. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte surface triglyceride lipase (PNPLA2) with the lipid droplet to mediate lipolysis (By similarity). Involved in the Golgi disassembly and reassembly processes during cell cycle. Involved in autophagy by playing a role in early endosome function. Plays a role in organellar compartmentalization of secretory compartments including endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC), Golgi, trans-Golgi network (TGN) and recycling endosomes, and in biosynthetic transport of CAV1. Promotes degradation of Nef cellular targets CD4 and MHC class I antigens by facilitating their trafficking to degradative compartments.',NULL,NULL,NULL,NULL,NULL),(11453,'UniProt Function',NULL,13746,NULL,'Component of the coatomer, a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).',NULL,NULL,NULL,NULL,NULL),(11454,'UniProt Function',NULL,13747,NULL,'The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated with ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).',NULL,NULL,NULL,NULL,NULL),(11455,'UniProt Function',NULL,13748,NULL,'The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).',NULL,NULL,NULL,NULL,NULL),(11456,'UniProt Function',NULL,13749,NULL,'Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB, generating the first membrane-bound Q intermediate.',NULL,NULL,NULL,NULL,NULL),(11457,'UniProt Function',NULL,13750,NULL,'Methyltransferase required for the conversion of 2-polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2).',NULL,NULL,NULL,NULL,NULL),(11458,'UniProt Function',NULL,13751,NULL,'FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-polyprenyl-4-hydroxybenzoic acid to 3-polyprenyl-4,5-dihydroxybenzoic acid. The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6.',NULL,NULL,NULL,NULL,NULL),(11459,'UniProt Function',NULL,13752,NULL,'Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner.',NULL,NULL,NULL,NULL,NULL),(11460,'UniProt Function',NULL,13753,NULL,'Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage-dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis.',NULL,NULL,NULL,NULL,NULL),(11461,'UniProt Function',NULL,13753,NULL,'Isoform Bcl-X(L) also regulates presynaptic plasticity, including neurotransmitter release and recovery, number of axonal mitochondria as well as size and number of synaptic vesicle clusters. During synaptic stimulation, increases ATP availability from mitochondria through regulation of mitochondrial membrane ATP synthase F(1)F(0) activity and regulates endocytic vesicle retrieval in hippocampal neurons through association with DMN1L and stimulation of its GTPase activity in synaptic vesicles. May attenuate inflammation impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785).',NULL,NULL,NULL,NULL,NULL),(11462,'UniProt Function',NULL,13753,NULL,'Isoform Bcl-X(S) promotes apoptosis.',NULL,NULL,NULL,NULL,NULL),(11463,'UniProt Function',NULL,13754,NULL,'Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:24270420). Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration (PubMed:24270420).',NULL,NULL,NULL,NULL,NULL),(11464,'UniProt Function',NULL,13755,NULL,'Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7.',NULL,NULL,NULL,NULL,NULL),(11465,'UniProt Function',NULL,13756,NULL,'Induces apoptosis and anoikis. Isoform BimL is more potent than isoform BimEL. Isoform Bim-alpha1, isoform Bim-alpha2 and isoform Bim-alpha3 induce apoptosis, although less potent than isoform BimEL, isoform BimL and isoform BimS. Isoform Bim-gamma induces apoptosis. Isoform Bim-alpha3 induces apoptosis possibly through a caspase-mediated pathway. Isoform BimAC and isoform BimABC lack the ability to induce apoptosis.',NULL,NULL,NULL,NULL,NULL),(11466,'UniProt Function',NULL,13758,NULL,'Plays a role in apoptosis.',NULL,NULL,NULL,NULL,NULL),(11467,'UniProt Function',NULL,13760,NULL,'May play a role in the reorganization of neuronal actin structure.',NULL,NULL,NULL,NULL,NULL),(11468,'UniProt Function',NULL,13761,NULL,'Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection (By similarity). Can inhibit apoptosis induced by serum starvation in the mammary epithelial cell line HC11 (By similarity).',NULL,NULL,NULL,NULL,NULL),(11469,'UniProt Function',NULL,13762,NULL,'Plays a role during the calcification of cartilage and the transition of cartilage to bone.',NULL,NULL,NULL,NULL,NULL),(11470,'UniProt Function',NULL,13763,NULL,'Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553).',NULL,NULL,NULL,NULL,NULL),(11471,'UniProt Function',NULL,13764,NULL,'Serine-type endopeptidase involved in atrial natriuretic peptide hormone (NPPA) processing. Converts through proteolytic cleavage the non-functional propeptide NPPA into the active hormone, thereby regulating blood pressure in heart and promoting natriuresis, diuresis and vasodilation. Proteolytic cleavage of pro-NPPA also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Also acts as a regulator of sodium reabsorption in kidney. May also process pro-NPPB the B-type natriuretic peptide.',NULL,NULL,NULL,NULL,NULL),(11472,'UniProt Function',NULL,13764,NULL,'Isoform 2: has weaker endopeptidase activity compared to isoform 1.',NULL,NULL,NULL,NULL,NULL),(11473,'UniProt Function',NULL,13765,NULL,'Binds to all human somatostatin receptor (SSTR) subtypes. It also inhibits cAMP production induced by forskolin through SSTRs.',NULL,NULL,NULL,NULL,NULL),(11474,'UniProt Function',NULL,13766,NULL,'May act as a cell-binding protein.',NULL,NULL,NULL,NULL,NULL),(11475,'UniProt Function',NULL,13767,NULL,'Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5\'-AGGTCA-3\' motif. Represses transcriptional activity of LHCG.',NULL,NULL,NULL,NULL,NULL),(11476,'UniProt Function',NULL,13768,NULL,'Plasma membrane anion exchange protein of wide distribution.',NULL,NULL,NULL,NULL,NULL),(11477,'UniProt Function',NULL,13769,NULL,'Plasma membrane anion exchange protein of wide distribution. Mediates at least a part of the Cl(-)/HCO3(-) exchange in cardiac myocytes. Both BAE3 and CAE3 forms transport Cl(-).',NULL,NULL,NULL,NULL,NULL),(11478,'UniProt Function',NULL,13770,NULL,'Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Major integral membrane glycoprotein of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin. Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate exchange in the kidney, and is required for normal acidification of the urine.',NULL,NULL,NULL,NULL,NULL),(11479,'UniProt Function',NULL,13771,NULL,'Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group.',NULL,NULL,NULL,NULL,NULL),(11480,'UniProt Function',NULL,13772,NULL,'Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863).',NULL,NULL,NULL,NULL,NULL),(11481,'UniProt Function',NULL,13773,NULL,'Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.',NULL,NULL,NULL,NULL,NULL),(11482,'UniProt Function',NULL,13774,NULL,'Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors (PubMed:9892646). Probably constitutes the main polylactosamine synthase.',NULL,NULL,NULL,NULL,NULL),(11483,'UniProt Function',NULL,13775,NULL,'Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I.',NULL,NULL,NULL,NULL,NULL),(11484,'UniProt Function',NULL,13776,NULL,'Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides.',NULL,NULL,NULL,NULL,NULL),(11485,'UniProt Function',NULL,13777,NULL,'Beta-1,3-N-acetylglucosaminyltransferase that plays a key role in the synthesis of lacto- or neolacto-series carbohydrate chains on glycolipids, notably by participating in biosynthesis of HNK-1 and Lewis X carbohydrate structures. Has strong activity toward lactosylceramide (LacCer) and neolactotetraosylceramide (nLc(4)Cer; paragloboside), resulting in the synthesis of Lc(3)Cer and neolactopentaosylceramide (nLc(5)Cer), respectively. Probably plays a central role in regulating neolacto-series glycolipid synthesis during embryonic development.',NULL,NULL,NULL,NULL,NULL),(11486,'UniProt Function',NULL,13778,NULL,'May be involved in the biosynthesis of heme A.',NULL,NULL,NULL,NULL,NULL),(11487,'UniProt Function',NULL,13779,NULL,'May be involved in keratane sulfate biosynthesis. Transfers N-acetylgalactosamine on to keratan sulfate-related glycans. May play a role in preventing cells from migrating out of the original tissues and invading surrounding tissues.',NULL,NULL,NULL,NULL,NULL),(11488,'UniProt Function',NULL,13780,NULL,'Beta-1,3-N-acetylglucosaminyltransferase that plays a role in the elongation of specific branch structures of multiantennary N-glycans. Has strong activity towards tetraantennary N-glycans and 2,6 triantennary glycans.',NULL,NULL,NULL,NULL,NULL),(11489,'UniProt Function',NULL,13782,NULL,'Copper metallochaperone essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. Binds two copper ions and delivers them to the metallochaperone SCO1 which transports the copper ions to the Cu(A) site on the cytochrome c oxidase subunit II (MT-CO2/COX2).',NULL,NULL,NULL,NULL,NULL),(11490,'UniProt Function',NULL,13783,NULL,'Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT-CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT-CO2/COX2 maturation following the COX20-mediated stabilization of newly synthesized MT-CO2/COX2 protein and before the action of the metallochaperones SCO1/2. Essential for the assembly and stability of the mitochondrial respiratory chain complex IV (also known as cytochrome c oxidase).',NULL,NULL,NULL,NULL,NULL),(11491,'UniProt Function',NULL,13784,NULL,'Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues.',NULL,NULL,NULL,NULL,NULL),(11492,'UniProt Function',NULL,13785,NULL,'Required for the transduction of an SCO1-dependent redox signal from the mitochondrion to ATP7A to regulate cellular copper homeostasis (PubMed:23345593). May be required for the assembly of mitochondrial cytochrome c oxidase (By similarity).',NULL,NULL,NULL,NULL,NULL),(11493,'UniProt Function',NULL,13786,NULL,'Involved in GM1/GD1B/GA1 ganglioside biosynthesis.',NULL,NULL,NULL,NULL,NULL),(11494,'UniProt Function',NULL,13787,NULL,'Catalyzes the transfer of Gal to GlcNAc-based acceptors with a preference for the core3 O-linked glycan GlcNAc(beta1,3)GalNAc structure. Can use glycolipid LC3Cer as an efficient acceptor.',NULL,NULL,NULL,NULL,NULL),(11495,'UniProt Function',NULL,13788,NULL,'Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues.',NULL,NULL,NULL,NULL,NULL),(11496,'UniProt Function',NULL,13789,NULL,'Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O-mannosyl glycan (PubMed:25279699, PubMed:25279697). Phosphorylated O-mannosyl glycan is a carbohydrate is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:25279697). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (By similarity).',NULL,NULL,NULL,NULL,NULL),(11497,'UniProt Function',NULL,13790,NULL,'Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N\'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. Mediates the N,N\'-diacetyllactosediamine formation on gastric mucosa.',NULL,NULL,NULL,NULL,NULL),(11498,'UniProt Function',NULL,13791,NULL,'Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N\'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans.',NULL,NULL,NULL,NULL,NULL),(11499,'UniProt Function',NULL,13792,NULL,'The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.',NULL,NULL,NULL,NULL,NULL),(11500,'UniProt Function',NULL,13792,NULL,'The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(11501,'UniProt Function',NULL,13793,NULL,'May play a synaptic role at the postsynaptic lipid rafts possibly through interaction with CAMK2A.',NULL,NULL,NULL,NULL,NULL),(11502,'UniProt Function',NULL,13795,NULL,'Component of the BRCA1-A complex, a complex that specifically recognizes \'Lys-63\'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes \'Lys-63\'-linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it is required for the complex integrity and its localization at DSBs. Component of the BRISC complex, a multiprotein complex that specifically cleaves \'Lys-63\'-linked ubiquitin in various substrates (PubMed:24075985, PubMed:26195665). In these 2 complexes, it is probably required to maintain the stability of BABAM2 and help the \'Lys-63\'-linked deubiquitinase activity mediated by BRCC3/BRCC36 component. The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985).',NULL,NULL,NULL,NULL,NULL),(11503,'UniProt Function',NULL,13796,NULL,'Component of the BRCA1-A complex, a complex that specifically recognizes \'Lys-63\'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes \'Lys-63\'-linked ubiquitin on histones H2A and H2AX (PubMed:17525341, PubMed:19261746, PubMed:19261749, PubMed:19261748). In the BRCA1-A complex, it acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity and modulating the E3 ubiquitin ligase activity of the BRCA1-BARD1 heterodimer (PubMed:21282113, PubMed:19261748). Component of the BRISC complex, a multiprotein complex that specifically cleaves \'Lys-63\'-linked ubiquitin in various substrates (PubMed:19214193, PubMed:24075985, PubMed:25283148, PubMed:26195665). Within the BRISC complex, acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity (PubMed:21282113). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). The BRISC complex plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). May play a role in homeostasis or cellular differentiation in cells of neural, epithelial and germline origins. May also act as a death receptor-associated anti-apoptotic protein, which inhibits the mitochondrial apoptotic pathway. May regulate TNF-alpha signaling through its interactions with TNFRSF1A; however these effects may be indirect (PubMed:15465831).',NULL,NULL,NULL,NULL,NULL),(11504,'UniProt Function',NULL,13797,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in regulation of cytoskeleton structure. The BCR(TNFAIP1) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome, thereby regulating the actin cytoskeleton and cell migration. Its interaction with RHOB may regulate apoptosis. May enhance the PCNA-dependent DNA polymerase delta activity.',NULL,NULL,NULL,NULL,NULL),(11505,'UniProt Function',NULL,13798,NULL,'Heterochromatin protein that acts as a transcription repressor and has the ability to promote the formation of large heterochromatic domains. May act by recruiting heterochromatin proteins such as CBX5 (HP1 alpha), HDAC5 and MBD1. Represses IGF2 expression by binding to its CpG-rich P3 promoter and recruiting heterochromatin proteins. At specific stages of Listeria infection, in complex with TRIM28, corepresses interferon-stimulated genes, including IFNL1, IFNL2 and IFNL3.',NULL,NULL,NULL,NULL,NULL),(11506,'UniProt Function',NULL,13799,NULL,'May play a role in the regulation of extra-urea cycle arginine metabolism and also in down-regulation of nitric oxide synthesis. Extrahepatic arginase functions to regulate L-arginine bioavailability to nitric oxid synthase (NOS). Arginine metabolism is a critical regulator of innate and adaptive immune responses. Seems to be involved in negative regulation of the survival capacity of activated CD4(+) and CD8(+) T cells (PubMed:27745970). May suppress inflammation-related signaling in asthmatic airway epithelium (PubMed:27214549). May contribute to the immune evasion of H.pylori by restricting M1 macrophage activation and polyamine metabolism (By similarity). In fetal dendritic cells may play a role in promoting immune suppression and T cell TNF-alpha production during gestation (PubMed:28614294). Regulates RPS6KB1 signaling, which promotes endothelial cell senescence and inflammation and implicates NOS3/eNOS dysfunction (PubMed:22928666). Can inhibit endothelial autophagy independently of its enzymatic activity implicating mTORC2 signaling (PubMed:25484082). Involved in vascular smooth muscle cell senescence and apoptosis independently of its enzymatic activity (PubMed:23832324). Since NOS is found in the penile corpus cavernosum smooth muscle, the clitoral corpus cavernosum and the vagina, arginase-2 plays a role in both male and female sexual arousal (PubMed:12859189).',NULL,NULL,NULL,NULL,NULL),(11507,'UniProt Function',NULL,13800,NULL,'Poly(ADP-ribose) synthesized after DNA damage is only present transiently and is rapidly degraded by poly(ADP-ribose) glycohydrolase. Poly(ADP-ribose) metabolism may be required for maintenance of the normal function of neuronal cells. Generates ADP-ribose from poly-(ADP-ribose), but does not hydrolyze ADP-ribose-arginine, -cysteine, -diphthamide, or -asparagine bonds. Due to catalytic inactivity of PARG mitochondrial isoforms, ARH3 is the only PAR hydrolyzing enzyme in mitochondria.',NULL,NULL,NULL,NULL,NULL),(11508,'UniProt Function',NULL,13801,NULL,'Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Binding of APC may activate RAC1 GEF activity. The APC-ARHGEF4 complex seems to be involved in cell migration as well as in E-cadherin-mediated cell-cell adhesion. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression.',NULL,NULL,NULL,NULL,NULL),(11509,'UniProt Function',NULL,13802,NULL,'Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity).',NULL,NULL,NULL,NULL,NULL),(11510,'UniProt Function',NULL,13803,NULL,'Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen (By similarity).',NULL,NULL,NULL,NULL,NULL),(11511,'UniProt Function',NULL,13804,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes.',NULL,NULL,NULL,NULL,NULL),(11512,'UniProt Function',NULL,13805,NULL,'Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Regulates formation of new microtubules and centrosome integrity. Prevents the TBCD-induced microtubule destruction. Participates in association with TBCD, in the disassembly of the apical junction complexes. Antagonizes the effect of TBCD on epithelial cell detachment and tight and adherens junctions disassembly. Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. Component of a regulated secretory pathway involved in Ca(2+)-dependent release of acetylcholine. Required for normal progress through the cell cycle.',NULL,NULL,NULL,NULL,NULL),(11513,'UniProt Function',NULL,13806,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Binds DNA non-specifically (PubMed:14982958, PubMed:15170388).',NULL,NULL,NULL,NULL,NULL),(11514,'UniProt Function',NULL,13809,NULL,'Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable).',NULL,NULL,NULL,NULL,NULL),(11515,'UniProt Function',NULL,13810,NULL,'Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). Involved in regulation of sensitivity to cisplatin; may contribute to secretory vesicle transport of cisplatin from Golgi to plasma membrane.',NULL,NULL,NULL,NULL,NULL),(11516,'UniProt Function',NULL,13811,NULL,'Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. In the cell membrane of erythrocytes, it is required to maintain phosphatidylserine (PS) in the inner leaflet preventing its exposure on the surface. This asymmetric distribution is critical for the survival of erythrocytes in circulation since externalized PS is a phagocytic signal for splenic macrophages (PubMed:26944472). Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (By similarity). Required for B cell differentiation past the pro-B cell stage (By similarity). Seems to mediate PS flipping in pro-B cells (By similarity). May be involved in the transport of cholestatic bile acids (By similarity).',NULL,NULL,NULL,NULL,NULL),(11517,'UniProt Function',NULL,13812,NULL,'Cytokine with B-cell stimulating capability. Binds to and activates the ILST/gp130 receptor.',NULL,NULL,NULL,NULL,NULL),(11518,'UniProt Function',NULL,13813,NULL,'This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.',NULL,NULL,NULL,NULL,NULL),(11519,'UniProt Function',NULL,13814,NULL,'ATPase that plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity (PubMed:22186024). Required for a proper lysosomal and mitochondrial maintenance (PubMed:22296644, PubMed:28137957).',NULL,NULL,NULL,NULL,NULL),(11520,'UniProt Function',NULL,13815,NULL,'May function in mediating immune cell-cell interactions. May act as a T-cell costimulatory molecule, enhancing anti-CD3-induced proliferation. May play a role in the interaction of dendritic cells with T-cells and the cells of the adaptive immune response.',NULL,NULL,NULL,NULL,NULL),(11521,'UniProt Function',NULL,13817,NULL,'Voltage-gated chloride channel (PubMed:8112288, PubMed:9122265, PubMed:12456816). Plays an important role in membrane repolarization in skeletal muscle cells after muscle contraction.',NULL,NULL,NULL,NULL,NULL),(11522,'UniProt Function',NULL,13818,NULL,'Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde.',NULL,NULL,NULL,NULL,NULL),(11523,'UniProt Function',NULL,13819,NULL,'Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons.',NULL,NULL,NULL,NULL,NULL),(11524,'UniProt Function',NULL,13820,NULL,'This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Plays a role in sperm motility.',NULL,NULL,NULL,NULL,NULL),(11525,'UniProt Function',NULL,13821,NULL,'Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function.',NULL,NULL,NULL,NULL,NULL),(11526,'UniProt Function',NULL,13822,NULL,'This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction.',NULL,NULL,NULL,NULL,NULL),(11527,'UniProt Function',NULL,13823,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Involved in the regulation of paracellular epithelia permeability to ions in multiple organs. It acts as a paracellular ion channel probably forming permselective pores; isoform 1 appears to create pores preferentially permeable to cations and isoform 2 for anions. In sweat glands and in the thick ascending limb (TAL) of Henle\'s loop in kidney, it controls paracellular sodium permeability which is essential for proper sweat production and renal function (PubMed:19383724, PubMed:28771254, PubMed:28686597).',NULL,NULL,NULL,NULL,NULL),(11528,'UniProt Function',NULL,13824,NULL,'ATPase that plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory. Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity).',NULL,NULL,NULL,NULL,NULL),(11529,'UniProt Function',NULL,13825,NULL,'May be a transcriptional coactivator of the nuclear receptor ESR1 required to induce the expression of a subset of estradiol target genes, such as CCND1, MYC and E2F1. May play a role in the recruitment or occupancy of CREBBP at some ESR1 target gene promoters. May be required for histone hyperacetylation. Involved in the estrogen-induced cell proliferation and cell cycle progression of breast cancer cells.',NULL,NULL,NULL,NULL,NULL),(11530,'UniProt Function',NULL,13826,NULL,'This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.',NULL,NULL,NULL,NULL,NULL),(11531,'UniProt Function',NULL,13827,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.',NULL,NULL,NULL,NULL,NULL),(11532,'UniProt Function',NULL,13828,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(11533,'UniProt Function',NULL,13829,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(11534,'UniProt Function',NULL,13830,NULL,'Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B (PubMed:18206972, PubMed:21746879). The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and ENY2 into the SAGA complex (PubMed:18206972). Regulates H2B monoubiquitination (H2Bub1) levels. Affects subcellular distribution of ENY2, USP22 and ATXN7L3B (PubMed:27601583).',NULL,NULL,NULL,NULL,NULL),(11535,'UniProt Function',NULL,13831,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(11536,'UniProt Function',NULL,13832,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(11537,'UniProt Function',NULL,13833,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity). Binds the bacterial siderophore enterobactin and can promote mitochondrial accumulation of enterobactin-derived iron ions (PubMed:30146159).',NULL,NULL,NULL,NULL,NULL),(11538,'UniProt Function',NULL,13834,NULL,'May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina.',NULL,NULL,NULL,NULL,NULL),(11539,'UniProt Function',NULL,13836,NULL,'Receptor for cysteinyl leukotrienes mediating bronchoconstriction of individuals with and without asthma. Stimulation by LTD4 results in the contraction and proliferation of smooth muscle, edema, eosinophil migration and damage to the mucus layer in the lung. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTD4 >> LTE4 = LTC4 >> LTB4.',NULL,NULL,NULL,NULL,NULL),(11540,'UniProt Function',NULL,13837,NULL,'Isoform 1 functions as extracellular chaperone that prevents aggregation of nonnative proteins. Prevents stress-induced aggregation of blood plasma proteins. Inhibits formation of amyloid fibrils by APP, APOC2, B2M, CALCA, CSN3, SNCA and aggregation-prone LYZ variants (in vitro). Does not require ATP. Maintains partially unfolded proteins in a state appropriate for subsequent refolding by other chaperones, such as HSPA8/HSC70. Does not refold proteins by itself. Binding to cell surface receptors triggers internalization of the chaperone-client complex and subsequent lysosomal or proteasomal degradation. Secreted isoform 1 protects cells against apoptosis and against cytolysis by complement. Intracellular isoforms interact with ubiquitin and SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes and promote the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes proteasomal degradation of COMMD1 and IKBKB. Modulates NF-kappa-B transcriptional activity. Nuclear isoforms promote apoptosis. Mitochondrial isoforms suppress BAX-dependent release of cytochrome c into the cytoplasm and inhibit apoptosis. Plays a role in the regulation of cell proliferation.',NULL,NULL,NULL,NULL,NULL),(11541,'UniProt Function',NULL,13841,NULL,'Necessary for the biosynthesis of coenzyme A. Catalyzes the decarboxylation of 4-phosphopantothenoylcysteine to form 4\'-phosphopantotheine.',NULL,NULL,NULL,NULL,NULL),(11542,'UniProt Function',NULL,13842,NULL,'May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase).',NULL,NULL,NULL,NULL,NULL),(11543,'UniProt Function',NULL,13843,NULL,'Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles.',NULL,NULL,NULL,NULL,NULL),(11544,'UniProt Function',NULL,13844,NULL,'Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix.',NULL,NULL,NULL,NULL,NULL),(11545,'UniProt Function',NULL,13845,NULL,'Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching morphogenesis of lung. Binds heparin. At neuromuscular junctions, may play a role in acetylcholine receptor clustering (PubMed:26626625).',NULL,NULL,NULL,NULL,NULL),(11546,'UniProt Function',NULL,13846,NULL,'Transcriptional activator which recognizes variations of the palindromic sequence 5\'-ATTCCCNNGGGAATT-3\'.',NULL,NULL,NULL,NULL,NULL),(11547,'UniProt Function',NULL,13847,NULL,'Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact with other matrix molecules or cell surface receptors (By similarity).',NULL,NULL,NULL,NULL,NULL),(11548,'UniProt Function',NULL,13848,NULL,'Involved in ER-Golgi transport.',NULL,NULL,NULL,NULL,NULL),(11549,'UniProt Function',NULL,13849,NULL,'Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomers. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomers nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone H2AFY, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3\' exons of zinc-finger genes (PubMed:27029610).',NULL,NULL,NULL,NULL,NULL),(11550,'UniProt Function',NULL,13850,NULL,'Required for normal Golgi function.',NULL,NULL,NULL,NULL,NULL),(11551,'UniProt Function',NULL,13851,NULL,'Metalloprotease that may play a role in the degradation of COMP. Cleaves also alpha-2 macroglobulin and aggregan. Has anti-tumorigenic properties.',NULL,NULL,NULL,NULL,NULL),(11552,'UniProt Function',NULL,13852,NULL,'Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine.',NULL,NULL,NULL,NULL,NULL),(11553,'UniProt Function',NULL,13853,NULL,'Cleaves aggrecan, a cartilage proteoglycan, at the \'1938-Glu-|-Leu-1939\' site (within the chondroitin sulfate attachment domain), and may be involved in its turnover (By similarity). Has angiogenic inhibitor activity. Active metalloprotease, which may be associated with various inflammatory processes as well as development of cancer cachexia. May play a critical role in follicular rupture.',NULL,NULL,NULL,NULL,NULL),(11554,'UniProt Function',NULL,13854,NULL,'Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. May also play a role in development that is independent of its role in collagen biosynthesis.',NULL,NULL,NULL,NULL,NULL),(11555,'UniProt Function',NULL,13855,NULL,'Cleaves the propeptides of type II collagen prior to fibril assembly. Does not act on types I and III collagens.',NULL,NULL,NULL,NULL,NULL),(11556,'UniProt Function',NULL,13856,NULL,'Component of nuclear coiled bodies, also known as Cajal bodies or CBs, which are involved in the modification and assembly of nucleoplasmic snRNPs.',NULL,NULL,NULL,NULL,NULL),(11557,'UniProt Function',NULL,13857,NULL,'Metalloproteinase that plays an important role in connective tissue organization, development, inflammation, arthritis, and cell migration. ADAMTS5 is an extracellular matrix (ECM) degrading enzyme that show proteolytic activity toward the hyalectan group of chondroitin sulfate proteoglycans (CSPGs) including aggrecan, versican, brevican and neurocan (PubMed:16133547, PubMed:18992360). Cleavage within the hyalectans occurs at Glu-Xaa recognition motifs. Plays a role in embryonic development, including limb and cardiac morphogenesis, and skeletal muscle development through its versican remodeling properties. Participates in development of brown adipose tissue and browning of white adipose tissue. Plays an important role for T-lymphocyte migration from draining lymph nodes following viral infection.',NULL,NULL,NULL,NULL,NULL),(11558,'UniProt Function',NULL,13858,NULL,'Probable collagen protein.',NULL,NULL,NULL,NULL,NULL),(11559,'UniProt Function',NULL,13860,NULL,'Cleaves the large aggregating proteoglycans, aggrecan (at the \'1838-Glu-|-Ala-1839\' site) and versican (at the \'1428-Glu-|-Ala-1429\' site). Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos.',NULL,NULL,NULL,NULL,NULL),(11560,'UniProt Function',NULL,13861,NULL,'Ca(2+)-regulated actin-binding protein. May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(11561,'UniProt Function',NULL,13862,NULL,'Functions in cell migration.',NULL,NULL,NULL,NULL,NULL),(11562,'UniProt Function',NULL,13864,NULL,'Transmembrane serine/threonine kinase activin type-2 receptor forming an activin receptor complex with activin type-1 serine/threonine kinase receptors (ACVR1, ACVR1B or ACVR1c). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, the type-2 receptors act as a primary activin receptors (binds activin-A/INHBA, activin-B/INHBB as well as inhibin-A/INHA-INHBA). The type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor.',NULL,NULL,NULL,NULL,NULL),(11563,'UniProt Function',NULL,13865,NULL,'Promotes cell proliferation.',NULL,NULL,NULL,NULL,NULL),(11564,'UniProt Function',NULL,13866,NULL,'Guanyl-nucleotide exchange factor of the RHOG GTPase stimulating the exchange of RHOG-associated GDP for GTP. May play a role in chemotactic cell migration by mediating the activation of RAC1 by EPHA2. May also activate CDC42 and mediate activation of CDC42 by the viral protein HPV16 E6.',NULL,NULL,NULL,NULL,NULL),(11565,'UniProt Function',NULL,13867,NULL,'Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. When overexpressed, membrane-assembled circular arrays of CHMP4A filaments can promote or stabilize negative curvature and outward budding. Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(11566,'UniProt Function',NULL,13869,NULL,'Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in HIV-1 p6- and p9-dependent virus release.',NULL,NULL,NULL,NULL,NULL),(11567,'UniProt Function',NULL,13870,NULL,'Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. In the ESCRT-III complex, it probably serves as an acceptor for the ESCRT-II complex on endosomal membranes.',NULL,NULL,NULL,NULL,NULL),(11568,'UniProt Function',NULL,13871,NULL,'Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May play a role in asymmetric distribution of phospholipids in the canicular membrane. May have a role in transport of bile acids into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both. In cooperation with ABCB4 may be involved in establishing integrity of the canalicular membrane thus protecting hepatocytes from bile salts. Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine. Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity. Required for the preservation of cochlear hair cells in the inner ear. May act as cardiolipin transporter during inflammatory injury.',NULL,NULL,NULL,NULL,NULL),(11569,'UniProt Function',NULL,13872,NULL,'Transcriptional activator which regulates the transcription of various genes, including those involved in anti-apoptosis, cell growth, and DNA damage response. Dependent on its binding partner, binds to CRE (cAMP response element) consensus sequences (5\'-TGACGTCA-3\') or to AP-1 (activator protein 1) consensus sequences (5\'-TGACTCA-3\'). In the nucleus, contributes to global transcription and the DNA damage response, in addition to specific transcriptional activities that are related to cell development, proliferation and death. In the cytoplasm, interacts with and perturbs HK1- and VDAC1-containing complexes at the mitochondrial outer membrane, thereby impairing mitochondrial membrane potential, inducing mitochondrial leakage and promoting cell death. The phosphorylated form (mediated by ATM) plays a role in the DNA damage response and is involved in the ionizing radiation (IR)-induced S phase checkpoint control and in the recruitment of the MRN complex into the IR-induced foci (IRIF). Exhibits histone acetyltransferase (HAT) activity which specifically acetylates histones H2B and H4 in vitro. In concert with CUL3 and RBX1, promotes the degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM. Can elicit oncogenic or tumor suppressor activities depending on the tissue or cell type.',NULL,NULL,NULL,NULL,NULL),(11570,'UniProt Function',NULL,13873,NULL,'Transcriptional factor that acts in the unfolded protein response (UPR) pathway by activating UPR target genes induced during ER stress. Binds DNA on the 5\'-CCAC[GA]-3\' half of the ER stress response element (ERSE) (5\'-CCAATN(9)CCAC[GA]-3\') when NF-Y is bound to ERSE.',NULL,NULL,NULL,NULL,NULL),(11571,'UniProt Function',NULL,13874,NULL,'Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Plays a role in early autophagosome formation (PubMed:20639872).',NULL,NULL,NULL,NULL,NULL),(11572,'UniProt Function',NULL,13876,NULL,'Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Involved in regulation of the cell cycle.',NULL,NULL,NULL,NULL,NULL),(11573,'UniProt Function',NULL,13877,NULL,'Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx.',NULL,NULL,NULL,NULL,NULL),(11574,'UniProt Function',NULL,13878,NULL,'Involved in autophagosome assembly, regulating the size of nascent autophagosomes (PubMed:28561066). Also regulates lipid droplets morphology and distribution within the cell (PubMed:22219374, PubMed:28561066).',NULL,NULL,NULL,NULL,NULL),(11575,'UniProt Function',NULL,13879,NULL,'E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Modulates p53/TP53 activity to regulate cell cycle and survival during metabolic stress. Plays also a key role in the maintenance of axonal homeostasis, the prevention of axonal degeneration, the maintenance of hematopoietic stem cells, the formation of Paneth cell granules, as well as in adipose differentiation. Plays a role in regulating the liver clock and glucose metabolism by mediating the autophagic degradation of CRY1 (clock repressor) in a time-dependent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(11576,'UniProt Function',NULL,13880,NULL,'Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes.',NULL,NULL,NULL,NULL,NULL),(11577,'UniProt Function',NULL,13881,NULL,'Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.',NULL,NULL,NULL,NULL,NULL),(11578,'UniProt Function',NULL,13882,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane.',NULL,NULL,NULL,NULL,NULL),(11579,'UniProt Function',NULL,13883,NULL,'Protease component of the Clp complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. The Clp complex can degrade CSN1S1, CSN2 and CSN3, as well as synthetic peptides (in vitro) and may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates.',NULL,NULL,NULL,NULL,NULL),(11580,'UniProt Function',NULL,13884,NULL,'Mitochondrial citramalyl-CoA lyase indirectly involved in the vitamin B12 metabolism (PubMed:29056341). Converts citramalyl-CoA into acetyl-CoA and pyruvate in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite (PubMed:29056341). Also acts as a malate synthase in vitro, converting glyoxylate and acetyl-CoA to malate (PubMed:24334609, PubMed:29056341). Also acts as a beta-methylmalate synthase in vitro, by mediating conversion of glyoxylate and propionyl-CoA to beta-methylmalate (PubMed:24334609, PubMed:29056341). Also has very weak citramalate synthase activity in vitro (PubMed:24334609, PubMed:29056341).',NULL,NULL,NULL,NULL,NULL),(11581,'UniProt Function',NULL,13885,NULL,'Sialic acids are components of carbohydrate chains of glycoconjugates and are involved in cell-cell recognition and cell-pathogen interactions. That protein has no CMP-N-acetylneuraminate monooxygenase activity and is not able to convert CMP-N-acetylneuraminic acid (CMP-Neu5Ac) into its hydroxylated derivative CMP-N-glycolylneuraminic acid (CMP-Neu5Gc), a sialic acid abundantly expressed at the surface of many cells in vertebrates (PubMed:9624188). However, it may play a role in Wnt signaling (PubMed:19890979).',NULL,NULL,NULL,NULL,NULL),(11582,'UniProt Function',NULL,13887,NULL,'Cysteine hydrolase. Can convert the prodrug olmesartan medoxomil into its pharmacologically active metabolite olmerstatan, an angiotensin receptor blocker, in liver and intestine. May also activate beta-lactam antibiotics faropenem medoxomil and lenampicillin.',NULL,NULL,NULL,NULL,NULL),(11583,'UniProt Function',NULL,13888,NULL,'Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane (PubMed:11566871, PubMed:25410934). May have a function in the urea cycle (PubMed:11566871).',NULL,NULL,NULL,NULL,NULL),(11584,'UniProt Function',NULL,13889,NULL,'Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane (PubMed:11566871, PubMed:25410934). May have a function in the urea cycle (PubMed:11566871).',NULL,NULL,NULL,NULL,NULL),(11585,'UniProt Function',NULL,13890,NULL,'Pancreastatin: Strongly inhibits glucose induced insulin release from the pancreas.',NULL,NULL,NULL,NULL,NULL),(11586,'UniProt Function',NULL,13890,NULL,'Catestatin: Inhibits catecholamine release from chromaffin cells and noradrenergic neurons by acting as a non-competitive nicotinic cholinergic antagonist (PubMed:15326220). Displays antibacterial activity against Gram-positive bacteria S.aureus and M.luteus, and Gram-negative bacteria E.coli and P.aeruginosa (PubMed:15723172 and PubMed:24723458). Can induce mast cell migration, degranulation and production of cytokines and chemokines (PubMed:21214543). Acts as a potent scavenger of free radicals in vitro (PubMed:24723458). May play a role in the regulation of cardiac function and blood pressure (PubMed:18541522).',NULL,NULL,NULL,NULL,NULL),(11587,'UniProt Function',NULL,13890,NULL,'Serpinin: Regulates granule biogenesis in endocrine cells by up-regulating the transcription of protease nexin 1 (SERPINE2) via a cAMP-PKA-SP1 pathway. This leads to inhibition of granule protein degradation in the Golgi complex which in turn promotes granule formation.',NULL,NULL,NULL,NULL,NULL),(11588,'UniProt Function',NULL,13891,NULL,'Plays a role in T-cell signaling pathway. Isoform 2 may play a role in T-helper 2 (Th2) signaling pathway and seems to represent the first proximal signaling protein that links T-cell receptor-mediated signal to the activation of c-Maf Th2 specific factor.',NULL,NULL,NULL,NULL,NULL),(11589,'UniProt Function',NULL,13892,NULL,'Catalyzes the trimethylation of \'Lys-116\' in calmodulin.',NULL,NULL,NULL,NULL,NULL),(11590,'UniProt Function',NULL,13893,NULL,'Putative COX assembly factor.',NULL,NULL,NULL,NULL,NULL),(11591,'UniProt Function',NULL,13894,NULL,'Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV.',NULL,NULL,NULL,NULL,NULL),(11592,'UniProt Function',NULL,13895,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits.',NULL,NULL,NULL,NULL,NULL),(11593,'UniProt Function',NULL,13897,NULL,'May act as a guanine nucleotide exchange factor (GEF).',NULL,NULL,NULL,NULL,NULL),(11594,'UniProt Function',NULL,13898,NULL,'Binds and exchanges GTP and GDP.',NULL,NULL,NULL,NULL,NULL),(11595,'UniProt Function',NULL,13899,NULL,'Acts as a RAC1 guanine nucleotide exchange factor (GEF).',NULL,NULL,NULL,NULL,NULL),(11596,'UniProt Function',NULL,13901,NULL,'Ciliary protein that may be involved in a late step of axonemal outer dynein arm assembly.',NULL,NULL,NULL,NULL,NULL),(11597,'UniProt Function',NULL,13903,NULL,'E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation. Collaborates with ATXN3 in the degradation of misfolded chaperone substrates: ATXN3 restricting the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. Ubiquitinates NOS1 in concert with Hsp70 and Hsp40. Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90. Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation. Mediates polyubiquitination of DNA polymerase beta (POLB) at \'Lys-41\', \'Lys-61\' and \'Lys-81\', thereby playing a role in base-excision repair: catalyzes polyubiquitination by amplifying the HUWE1/ARF-BP1-dependent monoubiquitination and leading to POLB-degradation by the proteasome. Mediates polyubiquitination of CYP3A4. Ubiquitinates EPHA2 and may regulate the receptor stability and activity through proteasomal degradation. Acts as a co-chaperone for HSPA1A and HSPA1B chaperone proteins and promotes ubiquitin-mediated protein degradation (PubMed:27708256). Negatively regulates the suppressive function of regulatory T-cells (Treg) during inflammation by mediating the ubiquitination and degradation of FOXP3 in a HSPA1A/B-dependent manner (PubMed:23973223). Likely mediates polyubiquitination and downregulates plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. Negatively regulates TGF-beta signaling by modulating the basal level of SMAD3 via ubiquitin-mediated degradation (PubMed:24613385). May regulate myosin assembly in striated muscles together with UBE4B and VCP/p97 by targeting myosin chaperone UNC45B for proteasomal degradation (PubMed:17369820). Mediates ubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation (PubMed:29883609).',NULL,NULL,NULL,NULL,NULL),(11598,'UniProt Function',NULL,13904,NULL,'Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for acid production in the stomach.',NULL,NULL,NULL,NULL,NULL),(11599,'UniProt Function',NULL,13905,NULL,'Required for stabilization and maturation of the catalytic proton pump alpha subunit and may also involved in cell adhesion and establishing epithelial cell polarity.',NULL,NULL,NULL,NULL,NULL),(11600,'UniProt Function',NULL,13907,NULL,'Plays an important role in amino acid transport by acting as binding partner of amino acid transporters SLC6A18 and SLC6A19, regulating their trafficking on the cell surface and their amino acid transporter activity (By similarity). Regulator of SNARE complex function (PubMed:16330323). Stimulator of beta cell replication (PubMed:16330323).',NULL,NULL,NULL,NULL,NULL),(11601,'UniProt Function',NULL,13909,NULL,'mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria. Specifically binds mRNAs of nuclear-encoded mitochondrial proteins in the cytoplasm and regulates transport or translation of these transcripts close to mitochondria, playing a role in mitochondrial biogenesis.',NULL,NULL,NULL,NULL,NULL),(11602,'UniProt Function',NULL,13910,NULL,'Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).',NULL,NULL,NULL,NULL,NULL),(11603,'UniProt Function',NULL,13911,NULL,'Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).',NULL,NULL,NULL,NULL,NULL),(11604,'UniProt Function',NULL,13912,NULL,'Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular matrix degradation, and regulation of gland secretion.',NULL,NULL,NULL,NULL,NULL),(11605,'UniProt Function',NULL,13914,NULL,'Receptor for the chemoattractant adipokine chemerin/RARRES2 and for the omega-3 fatty acid derived molecule resolvin E1. Interaction with RARRES2 induces activation of intracellular signaling molecules, such as SKY, MAPK1/3 (ERK1/2), MAPK14/P38MAPK and PI3K leading to multifunctional effects, like, reduction of immune responses, enhancing of adipogenesis and angionesis. Resolvin E1 down-regulates cytokine production in macrophages by reducing the activation of MAPK1/3 (ERK1/2) and NF-kappa-B. Positively regulates adipogenesis and adipocyte metabolism. Acts as a coreceptor for several SIV strains (SIVMAC316, SIVMAC239, SIVMACL7E-FR and SIVSM62A), as well as a primary HIV-1 strain (92UG024-2).',NULL,NULL,NULL,NULL,NULL),(11606,'UniProt Function',NULL,13915,NULL,'Involved in an early step of the mitochondrial complex IV assembly process.',NULL,NULL,NULL,NULL,NULL),(11607,'UniProt Function',NULL,13916,NULL,'Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.',NULL,NULL,NULL,NULL,NULL),(11608,'UniProt Function',NULL,13917,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP turnover in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits.',NULL,NULL,NULL,NULL,NULL),(11609,'UniProt Function',NULL,13918,NULL,'May play an essential role for the assembly of the mitochondrial F1-F0 complex.',NULL,NULL,NULL,NULL,NULL),(11610,'UniProt Function',NULL,13919,NULL,'Transcriptional factor which recognizes variations of the palindromic sequence 5\'-ATTCCCNNGGGAATT-3\'.',NULL,NULL,NULL,NULL,NULL),(11611,'UniProt Function',NULL,13920,NULL,'Required for normal Golgi function.',NULL,NULL,NULL,NULL,NULL),(11612,'UniProt Function',NULL,13921,NULL,'Required for normal Golgi function.',NULL,NULL,NULL,NULL,NULL),(11613,'UniProt Function',NULL,13925,NULL,'Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.',NULL,NULL,NULL,NULL,NULL),(11614,'UniProt Function',NULL,13925,NULL,'Non-collagenous domain 1: May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling.',NULL,NULL,NULL,NULL,NULL),(11615,'UniProt Function',NULL,13925,NULL,'Endostatin: Potently inhibits endothelial cell proliferation and angiogenesis (PubMed:9459295). May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner implicating integrin ITGA5:ITGB1 and to a lesser extent ITGAV:ITGB3 and ITGAV:ITGB5 (By similarity). May negatively regulate the activity of homotrimeric non-collagenous domain 1 (PubMed:11257123).',NULL,NULL,NULL,NULL,NULL),(11616,'UniProt Function',NULL,13926,NULL,'Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression (PubMed:21475249). Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1). In concert with CIC and ATXN1, involved in brain development (By similarity).',NULL,NULL,NULL,NULL,NULL),(11617,'UniProt Function',NULL,13927,NULL,'Deubiquitinating enzyme that cleaves both \'Lys-48\'-linked and \'Lys-63\'-linked poly-ubiquitin chains (in vitro).',NULL,NULL,NULL,NULL,NULL),(11618,'UniProt Function',NULL,13928,NULL,'May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome.',NULL,NULL,NULL,NULL,NULL),(11619,'UniProt Function',NULL,13929,NULL,'Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization.',NULL,NULL,NULL,NULL,NULL),(11620,'UniProt Function',NULL,13930,NULL,'Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides.',NULL,NULL,NULL,NULL,NULL),(11621,'UniProt Function',NULL,13931,NULL,'Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli cells by suppressing death-promoting activity of BAX.',NULL,NULL,NULL,NULL,NULL),(11622,'UniProt Function',NULL,13932,NULL,'Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:25498144, PubMed:21296186, PubMed:25540914, PubMed:27499294). Its substrate specificity is unclear: does not show any protein kinase activity (PubMed:25498144, PubMed:27499294). Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates (PubMed:25498144, PubMed:27499294). Shows an unusual selectivity for binding ADP over ATP (PubMed:25498144).',NULL,NULL,NULL,NULL,NULL),(11623,'UniProt Function',NULL,13934,NULL,'Promotes cell survival. Suppresses apoptosis induced by BAX but not BAK.',NULL,NULL,NULL,NULL,NULL),(11624,'UniProt Function',NULL,13935,NULL,'May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. In mycobacteria-infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes.',NULL,NULL,NULL,NULL,NULL),(11625,'UniProt Function',NULL,13936,NULL,'Regulates leading edge dynamics and cell motility in fibroblasts. May be involved in cytokinesis and signal transduction (By similarity).',NULL,NULL,NULL,NULL,NULL),(11626,'UniProt Function',NULL,13937,NULL,'May promote the activation of caspase-3 and apoptosis.',NULL,NULL,NULL,NULL,NULL),(11627,'UniProt Function',NULL,13938,NULL,'Plays a role in directed cell migration by regulating the activation and subcellular location of RAC1 (PubMed:25074804, PubMed:25925950). Increases the presence of activated RAC1 at the leading edge of migrating cells (PubMed:25074804, PubMed:25925950). Required for normal organization of the cytoskeleton, including the actin cytoskeleton, microtubules and the vimentin intermediate filaments (By similarity). Plays a role in endoplasmic reticulum-associated endosome fission: localizes to endosome membrane tubules and promotes recruitment of TMCC1, leading to recruitment of the endoplasmic reticulum to endosome tubules for fission (PubMed:30220460). Endosome membrane fission of early and late endosomes is essential to separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane (PubMed:30220460). Required for normal cell proliferation, cell migration, and normal formation of lamellipodia (By similarity). Required for normal distribution of mitochondria within cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(11628,'UniProt Function',NULL,13938,NULL,'Isoform 3: Involved in myogenic differentiation.',NULL,NULL,NULL,NULL,NULL),(11629,'UniProt Function',NULL,13941,NULL,'F-actin regulator involved in anterograde Golgi to endosome transport: upon ubiquitination via \'Lys-33\'-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex, interacts with EPS15 and localizes to the trans-Golgi network, where it promotes actin polymerization, thereby facilitating post-Golgi trafficking. May play a role in the maintenance of the Golgi apparatus morphology.',NULL,NULL,NULL,NULL,NULL),(11630,'UniProt Function',NULL,13942,NULL,'Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A.',NULL,NULL,NULL,NULL,NULL),(11631,'UniProt Function',NULL,13943,NULL,'Probable apical anion exchanger of the kidney cortex.',NULL,NULL,NULL,NULL,NULL),(11632,'UniProt Function',NULL,13945,NULL,'Binds to F-actin in a calcium-independent manner. Has no direct effect on actin depolymerization. Acts as a chaperone for ALOX5 (5LO), influencing both its stability and activity in leukotrienes synthesis.',NULL,NULL,NULL,NULL,NULL),(11633,'UniProt Function',NULL,13946,NULL,'Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins.',NULL,NULL,NULL,NULL,NULL),(11634,'UniProt Function',NULL,13947,NULL,'Transfers N-acetylgalactosamine onto globotriaosylceramide (PubMed:10993897). Plays a critical role in preimplantation stage embryonic development (By similarity).',NULL,NULL,NULL,NULL,NULL),(11635,'UniProt Function',NULL,13948,NULL,'Converts protoheme IX and farnesyl diphosphate to heme O.',NULL,NULL,NULL,NULL,NULL),(11636,'UniProt Function',NULL,13949,NULL,'O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan.',NULL,NULL,NULL,NULL,NULL),(11637,'UniProt Function',NULL,13950,NULL,'Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides (PubMed:11042166). Also acts as a core1-1,3-N-acetylglucosaminyltransferase (Core1-beta3GlcNAcT) to form the 6-sulfo sialyl Lewis x on extended core1 O-glycans (PubMed:11439191).',NULL,NULL,NULL,NULL,NULL),(11638,'UniProt Function',NULL,13951,NULL,'Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Requires for coordination of the early steps of cytochrome c oxidase assembly with the synthesis of MT-CO1.',NULL,NULL,NULL,NULL,NULL),(11639,'UniProt Function',NULL,13952,NULL,'Beta-1,3-N-acetylglucosaminyltransferase that synthesizes the core 3 structure of the O-glycan, an important precursor in the biosynthesis of mucin-type glycoproteins. Plays an important role in the synthesis of mucin-type O-glycans in digestive organs.',NULL,NULL,NULL,NULL,NULL),(11640,'UniProt Function',NULL,13953,NULL,'Required for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:29355485, PubMed:29381136). Promotes the insertion of copper into the active site of cytochrome c oxidase subunit II (MT-CO2/COX2) (PubMed:29355485, PubMed:29381136). Interacts specifically with newly synthesized MT-CO2/COX and its copper center-forming metallochaperones SCO1, SCO2 and COA6 (PubMed:29381136). Probably facilitates MT-CO2/COX2 association with the MITRAC assembly intermediate containing MT-CO1/COX1, thereby participating in merging the MT-CO1/COX1 and MT-CO2/COX2 assembly lines (PubMed:29381136).',NULL,NULL,NULL,NULL,NULL),(11641,'UniProt Function',NULL,13954,NULL,'Putative glycosyltransferase.',NULL,NULL,NULL,NULL,NULL),(11642,'UniProt Function',NULL,13955,NULL,'Beta-1,3-galactosyltransferase that transfers galactose from UDP-alpha-D-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues.',NULL,NULL,NULL,NULL,NULL),(11643,'UniProt Function',NULL,13956,NULL,'Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(11644,'UniProt Function',NULL,13957,NULL,'Required for the biosynthesis of glycosphingolipids.',NULL,NULL,NULL,NULL,NULL),(11645,'UniProt Function',NULL,13958,NULL,'Involved in bile acid metabolism. In liver hepatocytes catalyzes the second step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi. The major components of bile are cholic acid and chenodeoxycholic acid. In a first step the bile acids are converted to an acyl-CoA thioester, either in peroxisomes (primary bile acids deriving from the cholesterol pathway), or cytoplasmic at the endoplasmic reticulum (secondary bile acids). May catalyze the conjugation of primary or secondary bile acids, or both. The conjugation increases the detergent properties of bile acids in the intestine, which facilitates lipid and fat-soluble vitamin absorption. In turn, bile acids are deconjugated by bacteria in the intestine and are recycled back to the liver for reconjugation (secondary bile acids). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids. In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs.',NULL,NULL,NULL,NULL,NULL),(11646,'UniProt Function',NULL,13959,NULL,'Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1-3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme. Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit 1 to the bimetallic center formed by heme A3 and copper B.',NULL,NULL,NULL,NULL,NULL),(11647,'UniProt Function',NULL,13960,NULL,'May play a role in BANF1 regulation and influence tissue-specific roles of BANF1.',NULL,NULL,NULL,NULL,NULL),(11648,'UniProt Function',NULL,13961,NULL,'Plays fundamental roles in nuclear assembly, chromatin organization, gene expression and gonad development. May potently compress chromatin structure and be involved in membrane recruitment and chromatin decondensation during nuclear assembly. Contains 2 non-specific dsDNA-binding sites which may promote DNA cross-bridging.',NULL,NULL,NULL,NULL,NULL),(11649,'UniProt Function',NULL,13961,NULL,'(Microbial infection) Exploited by retroviruses for inhibiting self-destructing autointegration of retroviral DNA, thereby promoting integration of viral DNA into the host chromosome. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD.',NULL,NULL,NULL,NULL,NULL),(11650,'UniProt Function',NULL,13961,NULL,'(Microbial infection) In case of poxvirus infection, has an antiviral activity by blocking viral DNA replication.',NULL,NULL,NULL,NULL,NULL),(11651,'UniProt Function',NULL,13962,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(BACURD3) E3 ubiquitin ligase complex mediates the ubiquitination of target proteins, leading to their degradation by the proteasome (By similarity).',NULL,NULL,NULL,NULL,NULL),(11652,'UniProt Function',NULL,13963,NULL,'Functions in endosome to Golgi retrograde transport. In response to calcium influx, may interact with SNARE fusion receptors and membrane phospholipids to mediate endosome fusion with the trans-Golgi network. By promoting the recycling of secretory vesicle transmembrane proteins, it indirectly controls dense-core secretory vesicle biogenesis, maturation and their ability to mediate the constitutive and regulated secretion of neurotransmitters and hormones. May regulate behavior and food intake by controlling calcium-stimulated exocytosis of neurotransmitters including NPY and serotonin and hormones like insulin (PubMed:28626000). Proposed to play a role in hypothalamic neuronal firing by modulating gamma-aminobutyric acid (GABA)ergic inhibitory neurotransmission (By similarity).',NULL,NULL,NULL,NULL,NULL),(11653,'UniProt Function',NULL,13964,NULL,'Transcriptional regulator that acts as repressor or activator, depending on the context. Binds to NF-E2 DNA binding sites. Play important roles in coordinating transcription activation and repression by MAFK (By similarity). Together with MAF, represses the transcription of genes under the control of the NFE2L2 oxidative stress pathway (PubMed:24035498).',NULL,NULL,NULL,NULL,NULL),(11654,'UniProt Function',NULL,13965,NULL,'Transcriptional regulator that acts as repressor or activator (By similarity). Binds to Maf recognition elements (MARE) (By similarity). Plays an important role in coordinating transcription activation and repression by MAFK (By similarity). Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1 (PubMed:17018862). Positively regulates the nuclear import of actin (By similarity).',NULL,NULL,NULL,NULL,NULL),(11655,'UniProt Function',NULL,13966,NULL,'Required for both basal and inducible autophagy. Determines the localization of the autophagy-specific PI3-kinase complex PI3KC3-C1 (PubMed:18843052, PubMed:19050071). Plays a role in autophagosome formation and MAP1LC3/LC3 conjugation to phosphatidylethanolamine (PubMed:19270696, PubMed:20713597). Promotes BECN1 translocation from the trans-Golgi network to autophagosomes (PubMed:20713597). Enhances PIK3C3 activity in a BECN1-dependent manner. Essential for the autophagy-dependent phosphorylation of BECN1 (PubMed:23878393). Stimulates the phosphorylation of BECN1, but suppresses the phosphorylation PIK3C3 by AMPK (PubMed:23878393). Binds to STX17-SNAP29 binary t-SNARE complex on autophagosomes and primes it for VAMP8 interaction to promote autophagosome-endolysosome fusion (PubMed:25686604). Modulates the hepatic lipid metabolism (By similarity).',NULL,NULL,NULL,NULL,NULL),(11656,'UniProt Function',NULL,13968,NULL,'Basal body protein required in multiciliate cells to align and maintain cilia orientation in response to flow. May act by mediating a maturation step that stabilizes and aligns cilia orientation. Not required to respond to planar cell polarity (PCP) or flow-based orientation cues (By similarity).',NULL,NULL,NULL,NULL,NULL),(11657,'UniProt Function',NULL,13969,NULL,'Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.',NULL,NULL,NULL,NULL,NULL),(11658,'UniProt Function',NULL,13970,NULL,'Positive regulator of apoptosis. Plays a role in the Wnt signaling pathway, negatively regulating the expression of Wnt signaling components CTNNB1 and HMGA1 (PubMed:25569233). Involved in cell cycle progression, maintenance of the nuclear structure and stem cell differentiation (PubMed:25569233). May play a role in lung tumor development or progression (By similarity).',NULL,NULL,NULL,NULL,NULL),(11659,'UniProt Function',NULL,13971,NULL,'Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis. Enhances the neoplastic transforming activity of CTNNB1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(11660,'UniProt Function',NULL,13972,NULL,'Involved in adaptive immune response (PubMed:25365219). Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK. May be an adapter protein between upstream TNFR1-TRADD-RIP complex and the downstream NIK-IKK-IKAP complex. Is a substrate for MALT1 (PubMed:18264101).',NULL,NULL,NULL,NULL,NULL),(11661,'UniProt Function',NULL,13973,NULL,'May play a role in proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles.',NULL,NULL,NULL,NULL,NULL),(11662,'UniProt Function',NULL,13974,NULL,'Dehydrogenase that mediates the formation of 2,5-dihydroxybenzoic acid (2,5-DHBA), a siderophore that shares structural similarities with bacterial enterobactin and associates with LCN2, thereby playing a key role in iron assimilation and homeostasis. Plays a role in susceptibility to bacterial infection by providing an assimilable source of iron that is exploited by pathogenic bacteria (By similarity). Also acts as a 3-hydroxybutyrate dehydrogenase (PubMed:16380372).',NULL,NULL,NULL,NULL,NULL),(11663,'UniProt Function',NULL,13976,NULL,'Acts as a sequence-specific transcriptional repressor in association with BCL6. May function in a narrow stage or be related to some events in the early B-cell development.',NULL,NULL,NULL,NULL,NULL),(11664,'UniProt Function',NULL,13977,NULL,'May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.',NULL,NULL,NULL,NULL,NULL),(11665,'UniProt Function',NULL,13978,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements.',NULL,NULL,NULL,NULL,NULL),(11666,'UniProt Function',NULL,13979,NULL,'Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signaling by regulating receptor internalisation as well as mechanism of receptor desensitization such as phosphorylation. Induces also a decrease in cell proliferation and angiotensin II-stimulated transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(11667,'UniProt Function',NULL,13980,NULL,'Required for normal Golgi function.',NULL,NULL,NULL,NULL,NULL),(11668,'UniProt Function',NULL,13981,NULL,'Required for checkpoint signaling after DNA damage. Required for ATR expression, possibly by stabilizing the protein.',NULL,NULL,NULL,NULL,NULL),(11669,'UniProt Function',NULL,13982,NULL,'Involved in the initial immune cell clustering during inflammatory response and may regulate chemotactic activity of chemokines. May play a role in melanocortin signaling pathways that regulate energy homeostasis and hair color. Low-affinity receptor for agouti (By similarity). Has a critical role in normal myelination in the central nervous system (By similarity).',NULL,NULL,NULL,NULL,NULL),(11670,'UniProt Function',NULL,13983,NULL,'Involved in the regulation of stress granule and P-body formation.',NULL,NULL,NULL,NULL,NULL),(11671,'UniProt Function',NULL,13984,NULL,'Probable hormone that may induce senescence of oligodendrocyte and neural precursor cells, characterized by G1 arrest, RB1 dephosphorylation and accelerated CCND1 and CCND3 proteasomal degradation.',NULL,NULL,NULL,NULL,NULL),(11672,'UniProt Function',NULL,13985,NULL,'Scavenger receptor that displays several functions associated with host defense. Promotes binding and phagocytosis of Gram-positive, Gram-negative bacteria and yeast. Mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. Binds to several carbohydrates including Gal-type ligands, D-galactose, L- and D-fucose, GalNAc, T and Tn antigens in a calcium-dependent manner and internalizes specifically GalNAc in nurse-like cells. Binds also to sialyl Lewis X or a trisaccharide and asialo-orosomucoid (ASOR). May also play a role in the clearance of amyloid-beta in Alzheimer disease.',NULL,NULL,NULL,NULL,NULL),(11673,'UniProt Function',NULL,13986,NULL,'DNA-binding protein that accumulates at DNA double-strand breaks (DSBs) following DNA damage and promotes DNA resection and homologous recombination (PubMed:29042561). Serves as a sensor of DNA damage: binds DNA with a strong preference for DNA substrates that mimic structures generated at stalled replication forks, and anchors RBBP8/CtIP to DSB sites to promote DNA end resection and ensuing homologous recombination repair (PubMed:29042561). Inhibits non-homologous end joining (NHEJ) (PubMed:29042561). Required for the dynamic movement of AURKA at the centrosomes and spindle apparatus during the cell cycle (PubMed:20596670).',NULL,NULL,NULL,NULL,NULL),(11674,'UniProt Function',NULL,13990,NULL,'Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Involved in the bipolar attachment of spindle microtubules to kinetochores and is a key regulator for the onset of cytokinesis during mitosis. Required for central/midzone spindle assembly and cleavage furrow formation. Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: phosphorylates CHMP4C, leading to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis (PubMed:22422861, PubMed:24814515). AURKB phosphorylates the CPC complex subunits BIRC5/survivin, CDCA8/borealin and INCENP. Phosphorylation of INCENP leads to increased AURKB activity. Other known AURKB substrates involved in centromeric functions and mitosis are CENPA, DES/desmin, GPAF, KIF2C, NSUN2, RACGAP1, SEPT1, VIM/vimentin, HASPIN, and histone H3. A positive feedback loop involving HASPIN and AURKB contributes to localization of CPC to centromeres. Phosphorylation of VIM controls vimentin filament segregation in cytokinetic process, whereas histone H3 is phosphorylated at \'Ser-10\' and \'Ser-28\' during mitosis (H3S10ph and H3S28ph, respectively). A positive feedback between HASPIN and AURKB contributes to CPC localization. AURKB is also required for kinetochore localization of BUB1 and SGO1. Phosphorylation of p53/TP53 negatively regulates its transcriptional activity. Key regulator of active promoters in resting B- and T-lymphocytes: acts by mediating phosphorylation of H3S28ph at active promoters in resting B-cells, inhibiting RNF2/RING1B-mediated ubiquitination of histone H2A and enhancing binding and activity of the USP16 deubiquitinase at transcribed genes.',NULL,NULL,NULL,NULL,NULL),(11675,'UniProt Function',NULL,13991,NULL,'Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Plays also a role in meiosis and more particularly in spermatogenesis. Has redundant cellular functions with AURKB and can rescue an AURKB knockdown. Like AURKB, AURKC phosphorylates histone H3 at \'Ser-10\' and \'Ser-28\'. AURKC phosphorylates the CPC complex subunits BIRC5/survivin and INCENP leading to increased AURKC activity. Phosphorylates TACC1, another protein involved in cell division, at \'Ser-228\'.',NULL,NULL,NULL,NULL,NULL),(11676,'UniProt Function',NULL,13992,NULL,'Protects against apoptosis mediated by Apaf-1.',NULL,NULL,NULL,NULL,NULL),(11677,'UniProt Function',NULL,13994,NULL,'Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts.',NULL,NULL,NULL,NULL,NULL),(11678,'UniProt Function',NULL,13995,NULL,'Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has a preference for arachidyl alcohol as well as decyl alcohol, demonstrating its relatively poor activity using saturated long chain alcohols (C16, C18, and C20).',NULL,NULL,NULL,NULL,NULL),(11679,'UniProt Function',NULL,13996,NULL,'Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has no activity using decyl alcohol and significantly prefers the C16 and C18 alcohols. May also have 2-acylglycerol O-acyltransferase (MGAT) and acyl-CoA:retinol acyltransferase (ARAT) activities, to catalyze the synthesis of diacylglycerols and retinyl esters; however this activity is unclear in vivo.',NULL,NULL,NULL,NULL,NULL),(11680,'UniProt Function',NULL,13997,NULL,'Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response.',NULL,NULL,NULL,NULL,NULL),(11681,'UniProt Function',NULL,14000,NULL,'May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966).',NULL,NULL,NULL,NULL,NULL),(11682,'UniProt Function',NULL,14001,NULL,'May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits (PubMed:23637203).',NULL,NULL,NULL,NULL,NULL),(11683,'UniProt Function',NULL,14002,NULL,'May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Down-regulates activation of NF-kappa-B.',NULL,NULL,NULL,NULL,NULL),(11684,'UniProt Function',NULL,14003,NULL,'May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Negatively regulates cell proliferation. Negatively regulates cell cycle G2/M phase transition probably by transactivating p21/CDKN1A through the p53/TP53-independent signaling pathway. Involved in kidney proximal tubule morphogenesis (By similarity). Down-regulates activation of NF-kappa-B (PubMed:15799966).',NULL,NULL,NULL,NULL,NULL),(11685,'UniProt Function',NULL,14004,NULL,'May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Down-regulates activation of NF-kappa-B. Inhibits TNF-induced NFKB1 activation.',NULL,NULL,NULL,NULL,NULL),(11686,'UniProt Function',NULL,14005,NULL,'May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Associates with the NF-kappa-B complex and suppresses its transcriptional activity (PubMed:15799966).',NULL,NULL,NULL,NULL,NULL),(11687,'UniProt Function',NULL,14006,NULL,'May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966).',NULL,NULL,NULL,NULL,NULL),(11688,'UniProt Function',NULL,14007,NULL,'Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling (PubMed:12192039, PubMed:27098453). Controls dorsoventral patterning via two opposing effects; down-regulates CTNNB1 to inhibit the Wnt signaling pathway and ventralize embryos, but also dorsalizes embryos by activating a Wnt-independent JNK signaling pathway (PubMed:12192039). In Wnt signaling, probably facilitates the phosphorylation of CTNNB1 and APC by GSK3B (PubMed:12192039). Likely to function as a tumor suppressor. Enhances TGF-beta signaling by recruiting the RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7 (PubMed:16601693). Also component of the AXIN1-HIPK2-TP53 complex which controls cell growth, apoptosis and development (PubMed:17210684). Facilitates the phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation (PubMed:17210684).',NULL,NULL,NULL,NULL,NULL),(11689,'UniProt Function',NULL,14008,NULL,'Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B (By similarity).',NULL,NULL,NULL,NULL,NULL),(11690,'UniProt Function',NULL,14009,NULL,'The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).',NULL,NULL,NULL,NULL,NULL),(11691,'UniProt Function',NULL,14009,NULL,'This coatomer complex protein, essential for Golgi budding and vesicular trafficking, is a selective binding protein (RACK) for protein kinase C, epsilon type. It binds to Golgi membranes in a GTP-dependent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(11692,'UniProt Function',NULL,14010,NULL,'Adapter protein which binds TBK1 and IKBKE playing a role in antiviral innate immunity. Activates serine/threonine-protein kinase TBK1 and facilitates its oligomerization. Enhances the phosphorylation of NF-kappa-B p65 subunit RELA by TBK1. Promotes TBK1-induced as well as TNF-alpha or PMA-induced activation of NF-kappa-B. Participates in IFNB promoter activation via TICAM1.',NULL,NULL,NULL,NULL,NULL),(11693,'UniProt Function',NULL,14011,NULL,'Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. AZI is an enzymatically inactive ODC homolog that counteracts the negative effect of ODC antizymes (AZs) OAZ1, OAZ2 and OAZ3 on ODC activity by competing with ODC for antizyme-binding (PubMed:17900240, PubMed:26305948). Inhibits antizyme-dependent ODC degradation and releases ODC monomers from their inactive complex with antizymes, leading to formation of the catalytically active ODC homodimer and restoring polyamine production (PubMed:17900240).',NULL,NULL,NULL,NULL,NULL),(11694,'UniProt Function',NULL,14012,NULL,'The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte triglyceride lipase (PNPLA2) with the lipid droplet surface to mediate lipolysis (By similarity).',NULL,NULL,NULL,NULL,NULL),(11695,'UniProt Function',NULL,14013,NULL,'Histone-binding protein required for histone H4 methyltransferase activity of PRMT5. Specifically required for histone H4 \'Arg-3\' methylation mediated by PRMT5, but not histone H3 \'Arg-8\' methylation, suggesting that it modulates the substrate specificity of PRMT5. Specifically interacts with the N-terminus of histone H4 but not with histone H3, suggesting that it acts by promoting the association between histone H4 and PRMT5. Involved in CCNE1 promoter repression. Plays a role in muscle cell differentiation by modulating the recruitment of PRMT5 to the promoter of genes involved in the coordination between cell cycle exit and muscle differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(11696,'UniProt Function',NULL,14014,NULL,'High-affinity, saturable copper transporter involved in dietary copper uptake.',NULL,NULL,NULL,NULL,NULL),(11697,'UniProt Function',NULL,14015,NULL,'Involved in low-affinity copper uptake.',NULL,NULL,NULL,NULL,NULL),(11698,'UniProt Function',NULL,14016,NULL,'The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).',NULL,NULL,NULL,NULL,NULL),(11699,'UniProt Function',NULL,14016,NULL,'The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properties with the coatomer complex.',NULL,NULL,NULL,NULL,NULL),(11700,'UniProt Function',NULL,14017,NULL,'The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properties with the coatomer complex (By similarity).',NULL,NULL,NULL,NULL,NULL),(11701,'UniProt Function',NULL,14018,NULL,'O-methyltransferase that catalyzes the 2 O-methylation steps in the ubiquinone biosynthetic pathway.',NULL,NULL,NULL,NULL,NULL),(11702,'UniProt Function',NULL,14019,NULL,'Involved in the biosynthesis of gangliosides GM2, GD2 and GA2.',NULL,NULL,NULL,NULL,NULL),(11703,'UniProt Function',NULL,14020,NULL,'Involved in the synthesis of the Sd(a) antigen (Sia-alpha2,3-[GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain.',NULL,NULL,NULL,NULL,NULL),(11704,'UniProt Function',NULL,14021,NULL,'Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.',NULL,NULL,NULL,NULL,NULL),(11705,'UniProt Function',NULL,14022,NULL,'Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. Can produce lactose.',NULL,NULL,NULL,NULL,NULL),(11706,'UniProt Function',NULL,14023,NULL,'Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.',NULL,NULL,NULL,NULL,NULL),(11707,'UniProt Function',NULL,14024,NULL,'Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.',NULL,NULL,NULL,NULL,NULL),(11708,'UniProt Function',NULL,14025,NULL,'Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes.',NULL,NULL,NULL,NULL,NULL),(11709,'UniProt Function',NULL,14026,NULL,'Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.',NULL,NULL,NULL,NULL,NULL),(11710,'UniProt Function',NULL,14027,NULL,'Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70 (PubMed:9873016, PubMed:27474739). Has anti-apoptotic activity (PubMed:10597216). Plays a role in the HSF1 nucleocytoplasmic transport (PubMed:26159920).',NULL,NULL,NULL,NULL,NULL),(11711,'UniProt Function',NULL,14028,NULL,'Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH.',NULL,NULL,NULL,NULL,NULL),(11712,'UniProt Function',NULL,14029,NULL,'ATP-independent molecular chaperone preventing the aggregation of misfolded and hydrophobic patches-containing proteins (PubMed:21636303). Functions as part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, which maintains these client proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20516149, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20516149, PubMed:20676083, PubMed:28104892, PubMed:25535373). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated by RNF126, an E3 ubiquitin-protein ligase associated with BAG6 and are sorted to the proteasome (PubMed:24981174, PubMed:28104892, PubMed:27193484). SGTA which prevents the recruitment of RNF126 to BAG6 may negatively regulate the ubiquitination and the proteasomal degradation of client proteins (PubMed:23129660, PubMed:25179605, PubMed:27193484). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303). BAG6 is also required for selective ubiquitin-mediated degradation of defective nascent chain polypeptides by the proteasome. In this context, it may participate to the production of antigenic peptides and play a role in antigen presentation in immune response (By similarity). BAG6 is also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation. BAG6 may ensure the proper degradation of these proteins and thereby protects the endoplasmic reticulum from protein overload upon stress (PubMed:26565908). By inhibiting the polyubiquitination and subsequent proteasomal degradation of HSPA2 it may also play a role in the assembly of the synaptonemal complex during spermatogenesis (By similarity). Also positively regulates apoptosis by interacting with and stabilizing the proapoptotic factor AIFM1 (By similarity). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333).',NULL,NULL,NULL,NULL,NULL),(11713,'UniProt Function',NULL,14029,NULL,'Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53 transcriptional activity (PubMed:17403783). When nuclear, may also act as a component of some chromatin regulator complex that regulates histone 3 \'Lys-4\' dimethylation (H3K4me2) (PubMed:18765639).',NULL,NULL,NULL,NULL,NULL),(11714,'UniProt Function',NULL,14029,NULL,'Released extracellularly via exosomes, it is a ligand of the natural killer/NK cells receptor NCR3 and stimulates NK cells cytotoxicity. It may thereby trigger NK cells cytotoxicity against neighboring tumor cells and immature myeloid dendritic cells (DC).',NULL,NULL,NULL,NULL,NULL),(11715,'UniProt Function',NULL,14029,NULL,'Mediates ricin-induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(11716,'UniProt Function',NULL,14030,NULL,'AP-1 family transcription factor that controls the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Required for development of CD8-alpha(+) classical dendritic cells (cDCs) and related CD103(+) dendritic cells that cross-present antigens to CD8 T-cells and produce interleukin-12 (IL12) in response to pathogens (By similarity). Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5\'-TGA[CG]TCA-3\' and regulates expression of target genes.',NULL,NULL,NULL,NULL,NULL),(11717,'UniProt Function',NULL,14031,NULL,'May act as an adapter protein and couple activated growth factor receptors to a signaling pathway that regulates the proliferation in breast cancer cells. When overexpressed, it confers anti-estrogen resistance in breast cancer cell lines. May also be regulated by cellular adhesion to extracellular matrix proteins.',NULL,NULL,NULL,NULL,NULL),(11718,'UniProt Function',NULL,14032,NULL,'Required for myelination.',NULL,NULL,NULL,NULL,NULL),(11719,'UniProt Function',NULL,14033,NULL,'Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex.',NULL,NULL,NULL,NULL,NULL),(11720,'UniProt Function',NULL,14034,NULL,'Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex.',NULL,NULL,NULL,NULL,NULL),(11721,'UniProt Function',NULL,14035,NULL,'Functions as a chaperone protein. Is one of the most abundant endoplasmic reticulum (ER) proteins. Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD). Also serves as a cargo receptor for the export of transmembrane proteins. May be involved in CASP8-mediated apoptosis.',NULL,NULL,NULL,NULL,NULL),(11722,'UniProt Function',NULL,14036,NULL,'Acts as a corepressor of recombining binding protein suppressor hairless (RBPJ) and inhibits Notch signaling in neural stem cells, thereby opposing their self-renewal and promoting neurogenesis (PubMed:23571214).',NULL,NULL,NULL,NULL,NULL),(11723,'UniProt Function',NULL,14037,NULL,'May play a role in microtubule deacetylation by negatively regulating the SIRT2 deacetylase activity toward alpha-tubulin and thereby participate to the control of cell cycle progression and genomic stability.',NULL,NULL,NULL,NULL,NULL),(11724,'UniProt Function',NULL,14038,NULL,'GTPase activating protein (GAP) which specifically converts GTP-bound RAC1 and CDC42 in their inactive GDP-bound form. The GAP activity is enhanced by the non-covalent binding of K-29 and K-48 polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(11725,'UniProt Function',NULL,14039,NULL,'Cyclin-dependent kinase that phosphorylates the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A), thereby acting as a key regulator of transcription elongation. Regulates the expression of genes involved in DNA repair and is required for the maintenance of genomic stability. Preferentially phosphorylates \'Ser-5\' in CTD repeats that are already phosphorylated at \'Ser-7\', but can also phosphorylate \'Ser-2\'. Required for RNA splicing, possibly by phosphorylating SRSF1/SF2. Involved in regulation of MAP kinase activity, possibly leading to affect the response to estrogen inhibitors.',NULL,NULL,NULL,NULL,NULL),(11726,'UniProt Function',NULL,14040,NULL,'Serine/threonine-protein kinase that acts like an antiapoptotic protein that counters TRAIL/TNFSF10-induced apoptosis by inducing phosphorylation of BIRC5 at \'Thr-34\'.',NULL,NULL,NULL,NULL,NULL),(11727,'UniProt Function',NULL,14041,NULL,'Serine/threonine-protein kinase that plays a critical role in the control of the eukaryotic cell cycle; involved in G0-G1 and G1-S cell cycle transitions. Interacts with CCNC/cyclin-C during interphase. Phosphorylates histone H1, ATF1, RB1 and CABLES1. ATF1 phosphorylation triggers ATF1 transactivation and transcriptional activities, and promotes cell proliferation and transformation. CDK3/cyclin-C mediated RB1 phosphorylation is required for G0-G1 transition. Promotes G1-S transition probably by contributing to the activation of E2F1, E2F2 and E2F3 in a RB1-independent manner.',NULL,NULL,NULL,NULL,NULL),(11728,'UniProt Function',NULL,14044,NULL,'Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclins during interphase at G1 to form a pRB/RB1 kinase and controls the entrance into the cell cycle. Involved in initiation and maintenance of cell cycle exit during cell differentiation; prevents cell proliferation and regulates negatively cell differentiation, but is required for the proliferation of specific cell types (e.g. erythroid and hematopoietic cells). Essential for cell proliferation within the dentate gyrus of the hippocampus and the subventricular zone of the lateral ventricles. Required during thymocyte development. Promotes the production of newborn neurons, probably by modulating G1 length. Promotes, at least in astrocytes, changes in patterns of gene expression, changes in the actin cytoskeleton including loss of stress fibers, and enhanced motility during cell differentiation. Prevents myeloid differentiation by interfering with RUNX1 and reducing its transcription transactivation activity, but promotes proliferation of normal myeloid progenitors. Delays senescence. Promotes the proliferation of beta-cells in pancreatic islets of Langerhans. May play a role in the centrosome organization during the cell cycle phases (PubMed:23918663).',NULL,NULL,NULL,NULL,NULL),(11729,'UniProt Function',NULL,14045,NULL,'Acts upon elastin.',NULL,NULL,NULL,NULL,NULL),(11730,'UniProt Function',NULL,14046,NULL,'DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:20347428, PubMed:20347429). In complex with CENPS (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM. In complex with CENPS and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked replication forks (PubMed:20347428, PubMed:20347429). In complex with CENPS, CENPT and CENPW (CENP-T-W-S-X heterotetramer), involved in the formation of a functional kinetochore outer plate, which is essential for kinetochore-microtubule attachment and faithful mitotic progression (PubMed:19620631). As a component of MHF and CENP-T-W-S-X complexes, binds DNA and bends it to form a nucleosome-like structure (PubMed:20347428, PubMed:20347429). DNA-binding function is fulfilled in the presence of CENPS, with the following preference for DNA substates: Holliday junction > double-stranded > splay arm > single-stranded. Does not bind DNA on its own (PubMed:20347429).',NULL,NULL,NULL,NULL,NULL),(11731,'UniProt Function',NULL,14048,NULL,'Catalyzes specifically the phosphorylation of ceramide to form ceramide 1-phosphate. Acts efficiently on natural and analog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide), to a lesser extent on C2-ceramide and C6-dihydroceramide, but not on other lipids, such as various sphingosines. Binds phosphoinositides.',NULL,NULL,NULL,NULL,NULL),(11732,'UniProt Function',NULL,14049,NULL,'Efficient protease with alanine specificity but only little elastolytic activity.',NULL,NULL,NULL,NULL,NULL),(11733,'UniProt Function',NULL,14050,NULL,'May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles (PubMed:27246242). May play a role in cilium biogenesis (PubMed:27588451).',NULL,NULL,NULL,NULL,NULL),(11734,'UniProt Function',NULL,14051,NULL,'RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.',NULL,NULL,NULL,NULL,NULL),(11735,'UniProt Function',NULL,14052,NULL,'Dihydroceramide synthase. Catalyzes the acylation of sphingosine to form dihydroceramide, with high selectivity toward palmitoyl-CoA as acyl donor compared to stearoyl-CoA. Inhibited by fumonisin B1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(11736,'UniProt Function',NULL,14054,NULL,'May play a role in cAMP-mediated gene transcription.',NULL,NULL,NULL,NULL,NULL),(11737,'UniProt Function',NULL,14056,NULL,'Plays a role in mitotic exit and cytokinesis (PubMed:16198290, PubMed:17853893). Recruits PDCD6IP and TSG101 to midbody during cytokinesis. Required for successful completion of cytokinesis (PubMed:17853893). Not required for microtubule nucleation (PubMed:16198290). Plays a role in the development of the brain and kidney (PubMed:28264986).',NULL,NULL,NULL,NULL,NULL),(11738,'UniProt Function',NULL,14058,NULL,'Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. May play a role in outer and inner dynein arm assembly.',NULL,NULL,NULL,NULL,NULL),(11739,'UniProt Function',NULL,14062,NULL,'May be involved in photoreceptor outer segment disk morphogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(11740,'UniProt Function',NULL,14064,NULL,'May play a role in the beating of primary cilia and thereby be involved in the establishment of organ laterality during embryogenesis.',NULL,NULL,NULL,NULL,NULL),(11741,'UniProt Function',NULL,14065,NULL,'Required for assembly and function of cilia and flagella.',NULL,NULL,NULL,NULL,NULL),(11742,'UniProt Function',NULL,14066,NULL,'May participate in dUTP and dCTP synthesis in mitochondria. Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP; CMP and UMP are poor substrates. May be involved in mtDNA depletion caused by long term treatment with ddC or other pyrimidine analogs. Also displays broad nucleoside diphosphate kinase activity.',NULL,NULL,NULL,NULL,NULL),(11743,'UniProt Function',NULL,14067,NULL,'Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors.',NULL,NULL,NULL,NULL,NULL),(11744,'UniProt Function',NULL,14068,NULL,'Odorant signal transduction is probably mediated by a G-protein coupled cascade using cAMP as second messenger. The olfactory channel can be shown to be activated by cyclic nucleotides which leads to a depolarization of olfactory sensory neurons.',NULL,NULL,NULL,NULL,NULL),(11745,'UniProt Function',NULL,14069,NULL,'Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases (PubMed:11136719). Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959).',NULL,NULL,NULL,NULL,NULL),(11746,'UniProt Function',NULL,14070,NULL,'Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity).',NULL,NULL,NULL,NULL,NULL),(11747,'UniProt Function',NULL,14071,NULL,'Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function.',NULL,NULL,NULL,NULL,NULL),(11748,'UniProt Function',NULL,14072,NULL,'Bifunctional growth regulator that stimulates the growth of cultured chondrocytes in the presence of basic fibroblast growth factor (FGF) but inhibits the growth of cultured vascular endothelial cells. May contribute to the rapid growth of cartilage and vascular invasion prior to the replacement of cartilage by bone during endochondral bone development. Inhibits in vitro tube formation and mobilization of endothelial cells. Plays a role as antiangiogenic factor in cardiac valves to suppress neovascularization.',NULL,NULL,NULL,NULL,NULL),(11749,'UniProt Function',NULL,14073,NULL,'Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization. Blocks CACNG8-mediated resensitization of AMPA receptors.',NULL,NULL,NULL,NULL,NULL),(11750,'UniProt Function',NULL,14074,NULL,'Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Is required for the association of CNOT10 with the CCR4-NOT complex. Seems not to be required for complex deadenylase function.',NULL,NULL,NULL,NULL,NULL),(11751,'UniProt Function',NULL,14075,NULL,'May play a role in the formation or function of ciliated cells.',NULL,NULL,NULL,NULL,NULL),(11752,'UniProt Function',NULL,14076,NULL,'Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for both innate and adaptive immune responses (By similarity).',NULL,NULL,NULL,NULL,NULL),(11753,'UniProt Function',NULL,14077,NULL,'Plays a role in the regulation of the cell surface expression of TLR4.',NULL,NULL,NULL,NULL,NULL),(11754,'UniProt Function',NULL,14078,NULL,'Isoform 1 suppresses cannabinoid receptor CNR1-mediated tonic inhibition of voltage-gated calcium channels. Isoform 2 does not have this effect.',NULL,NULL,NULL,NULL,NULL),(11755,'UniProt Function',NULL,14079,NULL,'Poly(A) nuclease with 3\'-5\' RNase activity. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in mRNA decay mediated by the major-protein-coding determinant of instability (mCRD) of the FOS gene in the cytoplasm. In the presence of ZNF335, enhances ligand-dependent transcriptional activity of nuclear hormone receptors, including RARA. The increase of ligand-dependent ESR1-mediated transcription is much smaller, if any. Mediates cell proliferation and cell survival and prevents cellular senescence.',NULL,NULL,NULL,NULL,NULL),(11756,'UniProt Function',NULL,14080,NULL,'Probable metalloprotease which hydrolyzes leukotriene D4 (LTD4) into leukotriene E4 (LTE4).',NULL,NULL,NULL,NULL,NULL),(11757,'UniProt Function',NULL,14082,NULL,'Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells.',NULL,NULL,NULL,NULL,NULL),(11758,'UniProt Function',NULL,14084,NULL,'May play a role in the correct development and proper functioning of the peripheral and central nervous system and be involved in cell adhesion and intercellular communication.',NULL,NULL,NULL,NULL,NULL),(11759,'UniProt Function',NULL,14085,NULL,'Belongs to the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Muscle-specific component of the BAF complex, a multiprotein complex involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Specifically binds acetylated lysines on histone 3 and 4 (H3K14ac, H3K9ac, H4K5ac, H4K8ac, H4K12ac, H4K16ac). In the complex, it acts as a tissue-specific anchor between histone acetylations and methylations and chromatin remodeling. It thereby probably plays an essential role in heart and skeletal muscle development.',NULL,NULL,NULL,NULL,NULL),(11760,'UniProt Function',NULL,14091,NULL,'Type I collagen is a member of group I collagen (fibrillar forming collagen).',NULL,NULL,NULL,NULL,NULL),(11761,'UniProt Function',NULL,14092,NULL,'Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a \'chicken-wire\' meshwork together with laminins, proteoglycans and entactin/nidogen.',NULL,NULL,NULL,NULL,NULL),(11762,'UniProt Function',NULL,14093,NULL,'Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a \'chicken-wire\' meshwork together with laminins, proteoglycans and entactin/nidogen.',NULL,NULL,NULL,NULL,NULL),(11763,'UniProt Function',NULL,14094,NULL,'Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a \'chicken-wire\' meshwork together with laminins, proteoglycans and entactin/nidogen.',NULL,NULL,NULL,NULL,NULL),(11764,'UniProt Function',NULL,14095,NULL,'Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C8A inserts into the target membrane, but does not form pores by itself.',NULL,NULL,NULL,NULL,NULL),(11765,'UniProt Function',NULL,14096,NULL,'Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2).',NULL,NULL,NULL,NULL,NULL),(11766,'UniProt Function',NULL,14097,NULL,'Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific matrices (By similarity).',NULL,NULL,NULL,NULL,NULL),(11767,'UniProt Function',NULL,14098,NULL,'Structural component of hyaline cartilage and vitreous of the eye.',NULL,NULL,NULL,NULL,NULL),(11768,'UniProt Function',NULL,14099,NULL,'Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement components, C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex is the foundation upon which the lytic complex is assembled.',NULL,NULL,NULL,NULL,NULL),(11769,'UniProt Function',NULL,14099,NULL,'Derived from proteolytic degradation of complement C5, C5 anaphylatoxin is a mediator of local inflammatory process. Binding to the receptor C5AR1 induces a variety of responses including intracellular calcium release, contraction of smooth muscle, increased vascular permeability, and histamine release from mast cells and basophilic leukocytes (PubMed:8182049). C5a is also a potent chemokine which stimulates the locomotion of polymorphonuclear leukocytes and directs their migration toward sites of inflammation.',NULL,NULL,NULL,NULL,NULL),(11770,'UniProt Function',NULL,14100,NULL,'Essential for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in elongation factor 2 (EEF2) and which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta).',NULL,NULL,NULL,NULL,NULL),(11771,'UniProt Function',NULL,14100,NULL,'Down-regulation increases extracellular release of proteoglycans, indicating a possible role in the secretion process. Stimulates binding of GNEFR to SEC5.',NULL,NULL,NULL,NULL,NULL),(11772,'UniProt Function',NULL,14101,NULL,'Type I collagen is a member of group I collagen (fibrillar forming collagen).',NULL,NULL,NULL,NULL,NULL),(11773,'UniProt Function',NULL,14102,NULL,'May play an essential role at the early stage of chromosomal DNA replication by coupling the polymerase alpha/primase complex to the cellular replication machinery.',NULL,NULL,NULL,NULL,NULL),(11774,'UniProt Function',NULL,14103,NULL,'As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair. Exhibits both DNA polymerase and 3\'- to 5\'-exonuclease activities (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24035200, PubMed:24022480). Requires the presence of accessory proteins POLD2, POLD3 and POLD4 for full activity. Depending upon the absence (Pol-delta3) or the presence of POLD4 (Pol-delta4), displays differences in catalytic activity. Most notably, expresses higher proofreading activity in the context of Pol-delta3 compared with that of Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5\'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation (PubMed:20227374). Under conditions of DNA replication stress, in the presence of POLD3 and POLD4, may catalyze the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites (PubMed:19074196).',NULL,NULL,NULL,NULL,NULL),(11775,'UniProt Function',NULL,14104,NULL,'As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair (PubMed:12403614, PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24035200). Pol-delta3 and Pol-delta4 are characterized by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may also be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5\'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation (PubMed:20227374). Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites performed by Pol-delta4, independently of DNA polymerase zeta (REV3L) or eta (POLH). Facilitates abasic site bypass by DNA polymerase delta by promoting extension from the nucleotide inserted opposite the lesion. Also involved in TLS as a component of the POLZ complex. Along with POLD3, dramatically increases the efficiency and processivity of DNA synthesis of the minimal DNA polymerase zeta complex, consisting of only REV3L and REV7 (PubMed:24449906).',NULL,NULL,NULL,NULL,NULL),(11776,'UniProt Function',NULL,14105,NULL,'Promotes cell surface expression of the potassium channel KCND2 (PubMed:15454437). Modulates the activity and gating characteristics of the potassium channel KCND2 (PubMed:15454437). Has no dipeptidyl aminopeptidase activity (PubMed:12662155).',NULL,NULL,NULL,NULL,NULL),(11777,'UniProt Function',NULL,14106,NULL,'Promotes cell surface expression of the potassium channel KCND2 (PubMed:15454437, PubMed:19441798). Modulates the activity and gating characteristics of the potassium channel KCND2 (PubMed:18364354). Has no dipeptidyl aminopeptidase activity (PubMed:8103397, PubMed:15476821).',NULL,NULL,NULL,NULL,NULL),(11778,'UniProt Function',NULL,14107,NULL,'Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle.',NULL,NULL,NULL,NULL,NULL),(11779,'UniProt Function',NULL,14107,NULL,'Restin potently inhibits angiogenesis.',NULL,NULL,NULL,NULL,NULL),(11780,'UniProt Function',NULL,14108,NULL,'Binds to target gene promoters, including NKX2-5 and SYCE1, but not GATA4, and may be involved in the maintenance of the active epigenetic status of these genes.',NULL,NULL,NULL,NULL,NULL),(11781,'UniProt Function',NULL,14109,NULL,'Primordial germ cell (PGCs)-specific protein involved in epigenetic chromatin reprogramming in the zygote following fertilization. In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in protection of DNA methylation in the maternal pronucleus by preventing conversion of 5mC to 5hmC: specifically recognizes and binds histone H3 dimethylated at \'Lys-9\' (H3K9me2) on maternal genome, and protects maternal genome from TET3-mediated conversion to 5hmC and subsequent DNA demethylation. Does not bind paternal chromatin, which is mainly packed into protamine and does not contain much H3K9me2 mark. Also protects imprinted loci that are marked with H3K9me2 in mature sperm from DNA demethylation in early embryogenesis. May be important for the totipotent/pluripotent states continuing through preimplantation development. Also involved in chromatin condensation in oocytogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(11782,'UniProt Function',NULL,14110,NULL,'Negative regulator of the mTORC1 and mTORC2 signaling pathways. Inhibits the kinase activity of both complexes.',NULL,NULL,NULL,NULL,NULL),(11783,'UniProt Function',NULL,14111,NULL,'As part of the MLL1/MLL complex, involved in the methylation of histone H3 at \'Lys-4\', particularly trimethylation. Histone H3 \'Lys-4\' methylation represents a specific tag for epigenetic transcriptional activation. May play some role in histone H3 acetylation. In a teratocarcinoma cell, plays a crucial role in retinoic acid-induced differentiation along the neural lineage, regulating gene induction and H3 \'Lys-4\' methylation at key developmental loci. May also play an indirect or direct role in endosomal transport.',NULL,NULL,NULL,NULL,NULL),(11784,'UniProt Function',NULL,14112,NULL,'Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.',NULL,NULL,NULL,NULL,NULL),(11785,'UniProt Function',NULL,14113,NULL,'Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. May participate in cytokinesis.',NULL,NULL,NULL,NULL,NULL),(11786,'UniProt Function',NULL,14114,NULL,'Plays a role in neuronal development and polarity, as well as in axon growth and guidance, neuronal growth cone collapse and cell migration. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. May play a role in endocytosis.',NULL,NULL,NULL,NULL,NULL),(11787,'UniProt Function',NULL,14115,NULL,'Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(11788,'UniProt Function',NULL,14116,NULL,'Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(11789,'UniProt Function',NULL,14117,NULL,'May have a function in neuronal differentiation and/or axon growth.',NULL,NULL,NULL,NULL,NULL),(11790,'UniProt Function',NULL,14118,NULL,'Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6-dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate.',NULL,NULL,NULL,NULL,NULL),(11791,'UniProt Function',NULL,14119,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(11792,'UniProt Function',NULL,14120,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(11793,'UniProt Function',NULL,14121,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(11794,'UniProt Function',NULL,14122,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(11795,'UniProt Function',NULL,14124,NULL,'Putative oxidoreductase.',NULL,NULL,NULL,NULL,NULL),(11796,'UniProt Function',NULL,14125,NULL,'Probable oxidoreductase.',NULL,NULL,NULL,NULL,NULL),(11797,'UniProt Function',NULL,14126,NULL,'Displays weak conversion of all-trans-retinal to all-trans-retinol in the presence of NADH. Has apparently no steroid dehydrogenase activity.',NULL,NULL,NULL,NULL,NULL),(11798,'UniProt Function',NULL,14127,NULL,'Lysosomal modulator of autophagy that plays a central role in p53/TP53-mediated apoptosis. Not involved in p73/TP73-mediated autophagy.',NULL,NULL,NULL,NULL,NULL),(11799,'UniProt Function',NULL,14128,NULL,'Plays a role in the initiation of autophagy. In the retina, might be involved in the process of photoreceptor cells renewal and recycling to preserve visual function. Induces apoptotic cell death when coexpressed with DRAM1.',NULL,NULL,NULL,NULL,NULL),(11800,'UniProt Function',NULL,14129,NULL,'Chemorepulsive axon guidance protein required for the development of spinal cord and forebrain commissures. Acts as a chemorepulsive guidance protein for commissural axons during development. Able to inhibit or repel neurite outgrowth from dorsal spinal cord. Inhibits the stabilization of cytosolic beta-catenin (CTNNB1) via its interaction with LRP6, thereby acting as an antagonist of Wnt signaling pathway.',NULL,NULL,NULL,NULL,NULL),(11801,'UniProt Function',NULL,14130,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(11802,'UniProt Function',NULL,14131,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(11803,'UniProt Function',NULL,14132,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(11804,'UniProt Function',NULL,14133,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(11805,'UniProt Function',NULL,14134,NULL,'Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.',NULL,NULL,NULL,NULL,NULL),(11806,'UniProt Function',NULL,14135,NULL,'Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.',NULL,NULL,NULL,NULL,NULL),(11807,'UniProt Function',NULL,14136,NULL,'Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with CCDC65/DRC2 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:23354437).',NULL,NULL,NULL,NULL,NULL),(11808,'UniProt Function',NULL,14137,NULL,'Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with DRC1 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:24094744).',NULL,NULL,NULL,NULL,NULL),(11809,'UniProt Function',NULL,14138,NULL,'Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.',NULL,NULL,NULL,NULL,NULL),(11810,'UniProt Function',NULL,14139,NULL,'Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker (By similarity). Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning (PubMed:26387594, PubMed:27120127, PubMed:27472056). Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by faciltating the trafficking of SMO into the cilium and the stimulation of SMO activity in a GRK2-dependent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(11811,'UniProt Function',NULL,14140,NULL,'May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity).',NULL,NULL,NULL,NULL,NULL),(11812,'UniProt Function',NULL,14141,NULL,'Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol.',NULL,NULL,NULL,NULL,NULL),(11813,'UniProt Function',NULL,14142,NULL,'Inhibits fibrillization of amyloid-beta peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin.',NULL,NULL,NULL,NULL,NULL),(11814,'UniProt Function',NULL,14143,NULL,'Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. Promotes cell proliferation.',NULL,NULL,NULL,NULL,NULL),(11815,'UniProt Function',NULL,14144,NULL,'The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).',NULL,NULL,NULL,NULL,NULL),(11816,'UniProt Function',NULL,14144,NULL,'Xenin stimulates exocrine pancreatic secretion. It inhibits pentagastrin-stimulated secretion of acid, to induce exocrine pancreatic secretion and to affect small and large intestinal motility. In the gut, xenin interacts with the neurotensin receptor.',NULL,NULL,NULL,NULL,NULL),(11817,'UniProt Function',NULL,14145,NULL,'Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase.',NULL,NULL,NULL,NULL,NULL),(11818,'UniProt Function',NULL,14146,NULL,'Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress.',NULL,NULL,NULL,NULL,NULL),(11819,'UniProt Function',NULL,14147,NULL,'Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Involved in cytochrome b translation and/or stability.',NULL,NULL,NULL,NULL,NULL),(11820,'UniProt Function',NULL,14148,NULL,'High affinity receptor for urotensin-2 and urotensin-2B. The activity of this receptor is mediated by a G-protein that activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(11821,'UniProt Function',NULL,14149,NULL,'Catalyzes the stereoselective decarboxylation of 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU) to (S)-allantoin.',NULL,NULL,NULL,NULL,NULL),(11822,'UniProt Function',NULL,14150,NULL,'Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl-inositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(11823,'UniProt Function',NULL,14151,NULL,'Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption.',NULL,NULL,NULL,NULL,NULL),(11824,'UniProt Function',NULL,14152,NULL,'Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium (By similarity). In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).',NULL,NULL,NULL,NULL,NULL),(11825,'UniProt Function',NULL,14153,NULL,'Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(11826,'UniProt Function',NULL,14154,NULL,'SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. VAMP8 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane via its interaction with the STX17-SNAP29 binary t-SNARE complex (PubMed:23217709, PubMed:25686604). Also required for dense-granule secretion in platelets (PubMed:12130530). Plays also a role in regulated enzyme secretion in pancreatic acinar cells (By similarity). Involved in the abscission of the midbody during cell division, which leads to completely separate daughter cells (By similarity). Involved in the homotypic fusion of early and late endosomes (By similarity).',NULL,NULL,NULL,NULL,NULL),(11827,'UniProt Function',NULL,14155,NULL,'Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation.',NULL,NULL,NULL,NULL,NULL),(11828,'UniProt Function',NULL,14156,NULL,'Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(11829,'UniProt Function',NULL,14157,NULL,'Serine/threonine kinase involved in Golgi disassembly during the cell cycle: following phosphorylation by PLK3 during mitosis, required to induce Golgi fragmentation. Acts by mediating phosphorylation of downstream target protein. Phosphorylates \'Thr-18\' of p53/TP53 and may thereby prevent the interaction between p53/TP53 and MDM2. Phosphorylates casein and histone H3. Phosphorylates BANF1: disrupts its ability to bind DNA, reduces its binding to LEM domain-containing proteins and causes its relocalization from the nucleus to the cytoplasm. Phosphorylates ATF2 which activates its transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(11830,'UniProt Function',NULL,14158,NULL,'Peptide Lv enhances L-type voltage-gated calcium channel (L-VGCC) currents in retinal photoreceptors.',NULL,NULL,NULL,NULL,NULL),(11831,'UniProt Function',NULL,14160,NULL,'Negatively regulates T-cell-mediated immune response by inhibiting T-cell activation, proliferation, cytokine production and development of cytotoxicity. When expressed on the cell surface of tumor macrophages, plays an important role, together with regulatory T-cells (Treg), in the suppression of tumor-associated antigen-specific T-cell immunity. Involved in promoting epithelial cell transformation.',NULL,NULL,NULL,NULL,NULL),(11832,'UniProt Function',NULL,14162,NULL,'Acts as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:18159949, PubMed:20175130). Involved in endocytic trafficking of EGF (PubMed:20175130). Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting. Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration (By similarity). In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation. Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling (By similarity). Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex (By similarity). Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(11833,'UniProt Function',NULL,14163,NULL,'Binds to MYC and inhibits MYC-mediated transactivation. Also binds to MYCN and enhances MYCN-dependent transcriptional activation. Increases calpain 2-mediated proteolysis of YY1 in vitro. Component of the E2F6.com-1 complex, a repressive complex that methylates \'Lys-9\' of histone H3, suggesting that it is involved in chromatin-remodeling.',NULL,NULL,NULL,NULL,NULL),(11834,'UniProt Function',NULL,14164,NULL,'Specifically cleaves the zymogen plasminogen to form the active enzyme plasmin.',NULL,NULL,NULL,NULL,NULL),(11835,'UniProt Function',NULL,14165,NULL,'Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.',NULL,NULL,NULL,NULL,NULL),(11836,'UniProt Function',NULL,14166,NULL,'Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.',NULL,NULL,NULL,NULL,NULL),(11837,'UniProt Function',NULL,14167,NULL,'Exchange factor for GTP-binding proteins RhoA, RhoG and, to a lesser extent, Rac1. Binds physically to the nucleotide-free states of those GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity). May be important for integrin-mediated signaling, at least in some cell types. In osteoclasts, along with SYK tyrosine kinase, required for signaling through integrin alpha-v/beta-1 (ITAGV-ITGB1), a crucial event for osteoclast proper cytoskeleton organization and function. This signaling pathway involves RAC1, but not RHO, activation. Necessary for proper wound healing. In the course of wound healing, required for the phagocytotic cup formation preceding macrophage phagocytosis of apoptotic neutrophils. Responsible for integrin beta-2 (ITGB2)-mediated macrophage adhesion and, to a lesser extent, contributes to beta-3 (ITGB3)-mediated adhesion. Does not affect integrin beta-1 (ITGB1)-mediated adhesion (By similarity).',NULL,NULL,NULL,NULL,NULL),(11838,'UniProt Function',NULL,14168,NULL,'May mediate a process in spermatogenesis or may play a role in sex ratio distortion.',NULL,NULL,NULL,NULL,NULL),(11839,'UniProt Function',NULL,14169,NULL,'Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, including clotting factors, and is required for normal blood coagulation, but also for normal bone development.',NULL,NULL,NULL,NULL,NULL),(11840,'UniProt Function',NULL,14170,NULL,'Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for recruitment of VPS33A to the HOPS complex (PubMed:23901104). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS33A but not VPS33B (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770).',NULL,NULL,NULL,NULL,NULL),(11841,'UniProt Function',NULL,14171,NULL,'Deposition-and-exchange histone chaperone specific for H2AFZ, specifically chaperones H2AFZ and deposits it into nucleosomes. As component of the SRCAP complex, mediates the ATP-dependent exchange of histone H2AFZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling.',NULL,NULL,NULL,NULL,NULL),(11842,'UniProt Function',NULL,14172,NULL,'Isoform 2: Behaves as a cytokine, promoting IL17A secretion by CD4+ T-cells, and differentiation and activation of IL17 producing helper T-cells (TH17).',NULL,NULL,NULL,NULL,NULL),(11843,'UniProt Function',NULL,14172,NULL,'Isoform 1: Inhibitory immune receptor involved in the regulation of phagocytes.',NULL,NULL,NULL,NULL,NULL),(11844,'UniProt Function',NULL,14173,NULL,'Acts as transcriptional coactivator of estrogen and progesterone receptors (ESR1 and PGR) upon hormone activation (PubMed:16772533). In presence of estrogen, binds to ESR1-responsive promoters (PubMed:16772533). Required for YAP1 coactivation function on PGR activity (PubMed:16772533). Synergizes with WBP2 in enhancing PGR activity (PubMed:16772533). Modulates expression of post-synaptic scaffolding proteins via regulation of ESR1, ESR2 and PGR (By similarity).',NULL,NULL,NULL,NULL,NULL),(11845,'UniProt Function',NULL,14174,NULL,'Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093).',NULL,NULL,NULL,NULL,NULL),(11846,'UniProt Function',NULL,14178,NULL,'Vesicular soluble NSF attachment protein receptor (v-SNARE) mediating vesicle docking and fusion to a specific acceptor cellular compartment. Functions in endoplasmic reticulum to Golgi transport; as part of a SNARE complex composed of GOSR1, GOSR2 and STX5. Functions in early/recycling endosome to TGN transport; as part of a SNARE complex composed of BET1L, GOSR1 and STX5. Has a S-palmitoyl transferase activity.',NULL,NULL,NULL,NULL,NULL),(11847,'UniProt Function',NULL,14184,NULL,'Possible role in transport between endoplasmic reticulum and Golgi.',NULL,NULL,NULL,NULL,NULL),(11848,'UniProt Function',NULL,14190,NULL,'Part of the catalytic step I spliceosome, C complex (PubMed:29301961). May protect cells from TP53-dependent apoptosis upon dsDNA break damage through association with PRP19-CD5L complex (PubMed:22952453).',NULL,NULL,NULL,NULL,NULL),(11849,'UniProt Function',NULL,14198,NULL,'May function as a transcription factor.',NULL,NULL,NULL,NULL,NULL),(11850,'UniProt Function',NULL,14199,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(11851,'UniProt Function',NULL,14209,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(11852,'UniProt Function',NULL,14210,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(11853,'UniProt Function',NULL,14215,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(11854,'UniProt Function',NULL,14216,NULL,'May be involved in transcriptional regulation. May be involved in regulation of cell proliferation.',NULL,NULL,NULL,NULL,NULL),(11855,'UniProt Function',NULL,14217,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(11856,'UniProt Function',NULL,14218,NULL,'May play a role in p53/TP53-mediated apoptosis.',NULL,NULL,NULL,NULL,NULL),(11857,'UniProt Function',NULL,14219,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(11858,'UniProt Function',NULL,14220,NULL,'Involved in nuclear mRNA export; probably mediated by association with the TREX complex.',NULL,NULL,NULL,NULL,NULL),(11859,'UniProt Function',NULL,14221,NULL,'Probable transcription factor involved in neuronal differentiation and/or phenotypic maintenance.',NULL,NULL,NULL,NULL,NULL),(11860,'UniProt Function',NULL,14222,NULL,'Endoplasmic reticulum palmitoyl acyltransferase that mediates palmitoylation of proteins such as AMFR, CALX, ITPR1 and TFRC (PubMed:22314232, PubMed:22728137, PubMed:25368151, PubMed:28826475). Palmitoylates calnexin (CALX), which is required for its association with the ribosome-translocon complex and efficient folding of glycosylated proteins (PubMed:22314232). Mediates palmitoylation of AMFR, promoting AMFR distribution to the peripheral endoplasmic reticulum (PubMed:22728137). Together with SELENOK, palmitoylates ITPR1 in immune cells, leading to regulate ITPR1 stability and function (PubMed:25368151).',NULL,NULL,NULL,NULL,NULL),(11861,'UniProt Function',NULL,14225,NULL,'May be involved in transcriptional regulation. Overexpression causes down-regulation of a number of genes involved in the immune response. Some genes are also up-regulated (By similarity).',NULL,NULL,NULL,NULL,NULL),(11862,'UniProt Function',NULL,14229,NULL,'Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes.',NULL,NULL,NULL,NULL,NULL),(11863,'UniProt Function',NULL,14235,NULL,'Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells.',NULL,NULL,NULL,NULL,NULL),(11864,'UniProt Function',NULL,14238,NULL,'May play a role in epithelioid conversion of fibroblasts.',NULL,NULL,NULL,NULL,NULL),(11865,'UniProt Function',NULL,14241,NULL,'Stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. May bind polyunsaturated fatty acids.',NULL,NULL,NULL,NULL,NULL),(11866,'UniProt Function',NULL,14243,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(11867,'UniProt Function',NULL,14252,NULL,'Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Required for normal cell proliferation (By similarity).',NULL,NULL,NULL,NULL,NULL),(11868,'UniProt Function',NULL,14254,NULL,'Chemotactic activity for lymphocytes but not for monocytes or neutrophils.',NULL,NULL,NULL,NULL,NULL),(11869,'UniProt Function',NULL,14255,NULL,'Sodium-independent, high-affinity exchange of anionic amino acids with high specificity for anionic form of cystine and glutamate.',NULL,NULL,NULL,NULL,NULL),(11870,'UniProt Function',NULL,14257,NULL,'Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation.',NULL,NULL,NULL,NULL,NULL),(11871,'UniProt Function',NULL,14258,NULL,'Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein.',NULL,NULL,NULL,NULL,NULL),(11872,'UniProt Function',NULL,14259,NULL,'Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, cell-cell adhesion, cell differentiation, proliferation and migration. Positively regulates microRNA (miRNA)-mediated gene silencing. Negatively regulates Hippo signaling pathway and antagonizes phosphorylation of YAP1. Acts as a transcriptional corepressor for SNAI1 and SNAI2/SLUG-dependent repression of E-cadherin transcription. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. In podocytes, may play a role in the regulation of actin dynamics and/or foot process cytoarchitecture (By similarity). In the course of podocyte injury, shuttles into the nucleus and acts as a transcription regulator that represses WT1-dependent transcription regulation, thereby translating changes in slit diaphragm structure into altered gene expression and a less differentiated phenotype. Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity).',NULL,NULL,NULL,NULL,NULL),(11873,'UniProt Function',NULL,14262,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation (PubMed:23499309, PubMed:26902720, PubMed:28528193, PubMed:23656646). In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling (By similarity). Plays an essential role in the development of the embryonic brain and central nervous system (CNS) (By similarity). Has a role in osteoblast function, bone development and bone homeostasis (PubMed:23499309, PubMed:23656646).',NULL,NULL,NULL,NULL,NULL),(11874,'UniProt Function',NULL,14265,NULL,'Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (PubMed:15461586, PubMed:17189265, PubMed:24581741, PubMed:23982343). Required for normal embryonic and postnatal skeleton development, especially of the long bones (PubMed:24581741, PubMed:23982343). Required for normal maturation of chondrocytes during bone development, and normal onset of ossification (By similarity).',NULL,NULL,NULL,NULL,NULL),(11875,'UniProt Function',NULL,14267,NULL,'Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins.',NULL,NULL,NULL,NULL,NULL),(11876,'UniProt Function',NULL,14268,NULL,'Involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Probably during DNA repair, negatively regulates ADP-ribose levels by modulating ADP-ribosyltransferase PARP1 activity.',NULL,NULL,NULL,NULL,NULL),(11877,'UniProt Function',NULL,14269,NULL,'Regulator of alternative splicing that specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs (PubMed:26318451, PubMed:26876937, PubMed:25242552, PubMed:28984244). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability (PubMed:26318451, PubMed:25242552). Acts as a key regulator of exon-inclusion or exon-skipping during alternative splicing via interaction with mRNA splicing factors SRSF3 and SRSF10 (PubMed:26876937). Specifically binds m6A-containing mRNAs and promotes recruitment of SRSF3 to its mRNA-binding elements adjacent to m6A sites, leading to exon-inclusion during alternative splicing (PubMed:26876937). In contrast, interaction with SRSF3 prevents interaction with SRSF10, a splicing factor that promotes exon skipping: this prevents SRSF10 from binding to its mRNA-binding sites close to m6A-containing regions, leading to inhibit exon skipping during alternative splicing (PubMed:26876937). May also regulate alternative splice site selection (PubMed:20167602). Also involved in nuclear export of m6A-containing mRNAs via interaction with SRSF3: interaction with SRSF3 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export (PubMed:28984244). Also recognizes and binds m6A on other RNA molecules (PubMed:27602518). Involved in random X inactivation mediated by Xist RNA: recognizes and binds m6A-containing Xist and promotes transcription repression activity of Xist (PubMed:27602518). Involved in S-adenosyl-L-methionine homeostasis by regulating expression of MAT2A transcripts, probably by binding m6A-containing MAT2A mRNAs (By similarity).',NULL,NULL,NULL,NULL,NULL),(11878,'UniProt Function',NULL,14270,NULL,'Involved in the transport of biogenic monoamines, such as serotonin, from the cytoplasm into the secretory vesicles of neuroendocrine and endocrine cells.',NULL,NULL,NULL,NULL,NULL),(11879,'UniProt Function',NULL,14271,NULL,'May be involved in protein sorting in post Golgi membrane traffic.',NULL,NULL,NULL,NULL,NULL),(11880,'UniProt Function',NULL,14272,NULL,'Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins (Probable). The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R (PubMed:15078902, PubMed:15078903). Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed:15247922). Required for the endosomal localization of WASHC2A (indicative for the WASH complex) (PubMed:22070227). Required for the endosomal localization of TBC1D5 (PubMed:20923837). Mediates retromer cargo recognition of SORL1 and is involved in trafficking of SORL1 implicated in sorting and processing of APP (PubMed:22279231). Involved in retromer-independent lysosomal sorting of F2R (PubMed:16407403). Involved in recycling of ADRB2 (PubMed:21602791). Enhances the affinity of SNX27 for PDZ-binding motifs in cargo proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(11881,'UniProt Function',NULL,14273,NULL,'Functions in promoting mitochondrial clearance by mitochondrial autophagy (mitophagy), also possibly by positively regulating mitochondrial fission (PubMed:29307555). Mitophagy plays an important role in regulating cell health and mitochondrial size and homeostasis (PubMed:29307555).',NULL,NULL,NULL,NULL,NULL),(11882,'UniProt Function',NULL,14274,NULL,'Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5. May be involved in retrograde transport of SORT1 but not of IGF2R. Acts redundantly with VSP26A in SNX-27 mediated endocytic recycling of SLC2A1/GLUT1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(11883,'UniProt Function',NULL,14275,NULL,'Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(11884,'UniProt Function',NULL,14276,NULL,'Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The CSC seems to associate with the cytoplasmic domain of cargo proteins predominantly via VPS35; however, these interactions seem to be of low affinity and retromer SNX proteins may also contribute to cargo selectivity thus questioning the classical function of the CSC. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R and SLC11A2. Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed:15078903, PubMed:15247922, PubMed:20164305). Required for endosomal localization of WASHC2C (PubMed:22070227). Mediates the association of the CSC with the WASH complex via WASHC2 (PubMed:22070227, PubMed:24980502, PubMed:24819384). Required for the endosomal localization of TBC1D5 (PubMed:20923837).',NULL,NULL,NULL,NULL,NULL),(11885,'UniProt Function',NULL,14276,NULL,'(Microbial infection) The heterotrimeric retromer cargo-selective complex (CSC) mediates the exit of human papillomavirus from the early endosome and the delivery to the Golgi apparatus.',NULL,NULL,NULL,NULL,NULL),(11886,'UniProt Function',NULL,14277,NULL,'Putative acid-stable proteinase inhibitor.',NULL,NULL,NULL,NULL,NULL),(11887,'UniProt Function',NULL,14278,NULL,'May play a role in ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(11888,'UniProt Function',NULL,14279,NULL,'Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and \'Ser-2\'- and \'Ser-5\'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 \'Lys-4\' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of \'Lys-120\' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3\' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Required for mono- and trimethylation on histone H3 \'Lys-4\' (H3K4me3), dimethylation on histone H3 \'Lys-79\' (H3K4me3). Required for Hox gene transcription. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1C.',NULL,NULL,NULL,NULL,NULL),(11889,'UniProt Function',NULL,14280,NULL,'3\'-5\' RNA helicase that plays a key role in the male and female germline by promoting transition from mitotic to meiotic divisions in stem cells (PubMed:26318451, PubMed:29033321). Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, a modification present at internal sites of mRNAs and some non-coding RNAs that plays a role in the efficiency of RNA processing and stability (PubMed:26318451, PubMed:29033321). Essential for ensuring a successful progression of the meiotic program in the germline by regulating the level of m6A-containing RNAs (By similarity). Acts by binding and promoting degradation of m6A-containing mRNAs: the 3\'-5\' RNA helicase activity is required for this process and RNA degradation may be mediated by XRN1 exoribonuclease (PubMed:29033321). Required for both spermatogenesis and oogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(11890,'UniProt Function',NULL,14281,NULL,'May function as a substrate receptor for CUL4-DDB1 ubiquitin E3 ligase complex.',NULL,NULL,NULL,NULL,NULL),(11891,'UniProt Function',NULL,14283,NULL,'Putative acid-stable proteinase inhibitor.',NULL,NULL,NULL,NULL,NULL),(11892,'UniProt Function',NULL,14284,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patterning during limb development, skeleton development and urogenital tract development (PubMed:16826533). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (PubMed:30026314). Required for normal, sexually dimorphic development of the Mullerian ducts, and for normal fertility in both sexes (By similarity). Required for normal neural stem cell proliferation in the hippocampus dentate gyrus (By similarity). Required for normal progress through the cell cycle in neural progenitor cells, for self-renewal of neural stem cells, and for normal neuronal differentiation and maturation (By similarity). Promotes formation of synapses via its interaction with FZD5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(11893,'UniProt Function',NULL,14285,NULL,'Binds to WNT proteins and inhibits their activities. May be involved in mesoderm segmentation.',NULL,NULL,NULL,NULL,NULL),(11894,'UniProt Function',NULL,14286,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm development (PubMed:17847007, PubMed:28589954). Required for normal tooth development (PubMed:17847007, PubMed:29178643, PubMed:28589954). Required for normal postnatal development and maintenance of tongue papillae and sweat ducts (PubMed:28589954). Required for normal proliferation of basal cells in tongue filiform papillae, plantar epithelium and sweat ducts. Required for normal expression of keratins in tongue papillae (By similarity). Required for normal expression of KRT9 in foot plant epithelium (PubMed:28589954). Required for normal hair follicle function (PubMed:28589954).',NULL,NULL,NULL,NULL,NULL),(11895,'UniProt Function',NULL,14287,NULL,'Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SLC12A2, SCNN1A, SCNN1B, SCNN1D and SGK1 and inhibits SLC12A5. Negatively regulates the EGF-induced activation of the ERK/MAPK-pathway and the downstream cell cycle progression. Affects MAPK3/MAPK1 activity by modulating the activity of MAP2K1 and this modulation depends on phosphorylation of MAP2K1 by PAK1. WNK2 acts by interfering with the activity of PAK1 by controlling the balance of the activity of upstream regulators of PAK1 activity, RHOA and RAC1, which display reciprocal activity.',NULL,NULL,NULL,NULL,NULL),(11896,'UniProt Function',NULL,14289,NULL,'Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5\'-GCG(T/G)GGGCG-3\' (PubMed:7862533, PubMed:17716689, PubMed:25258363). Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. It has a tumor suppressor as well as an oncogenic role in tumor formation. Function may be isoform-specific: isoforms lacking the KTS motif may act as transcription factors (PubMed:15520190). Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing (PubMed:16934801). Isoform 1 has lower affinity for DNA, and can bind RNA (PubMed:19123921).',NULL,NULL,NULL,NULL,NULL),(11897,'UniProt Function',NULL,14290,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters.',NULL,NULL,NULL,NULL,NULL),(11898,'UniProt Function',NULL,14291,NULL,'Mediates the nuclear export of actin and profilin-actin complexes in somatic cells.',NULL,NULL,NULL,NULL,NULL),(11899,'UniProt Function',NULL,14292,NULL,'Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of target proteins by catalyzing the addition of the second xylose (PubMed:22117070, PubMed:8982869). Known targets include Notch proteins and coagulation factors, such as F9 (PubMed:22117070, PubMed:8982869).',NULL,NULL,NULL,NULL,NULL),(11900,'UniProt Function',NULL,14293,NULL,'Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide.',NULL,NULL,NULL,NULL,NULL),(11901,'UniProt Function',NULL,14294,NULL,'Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(11902,'UniProt Function',NULL,14296,NULL,'Seems to act as a modulator of apoptosis.',NULL,NULL,NULL,NULL,NULL),(11903,'UniProt Function',NULL,14297,NULL,'Essential for both cleavage and polyadenylation of pre-mRNA 3\' ends.',NULL,NULL,NULL,NULL,NULL),(11904,'UniProt Function',NULL,14298,NULL,'Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity. Inhibits the biological activity of mature myostatin, but not activin (By similarity).',NULL,NULL,NULL,NULL,NULL),(11905,'UniProt Function',NULL,14299,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity).',NULL,NULL,NULL,NULL,NULL),(11906,'UniProt Function',NULL,14300,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinates ERBB4 isoforms JM-A CYT-1 and JM-B CYT-1, KLF2, KLF5 and TP63 and promotes their proteasomal degradation. Ubiquitinates RNF11 without targeting it for degradation. Ubiquitinates and promotes degradation of TGFBR1; the ubiquitination is enhanced by SMAD7. Ubiquitinates SMAD6 and SMAD7. Ubiquitinates and promotes degradation of SMAD2 in response to TGF-beta signaling, which requires interaction with TGIF.',NULL,NULL,NULL,NULL,NULL),(11907,'UniProt Function',NULL,14301,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Together with CAV1 may promote chemoresistance of gastric cancer cells to DNA-damaging anthracycline drugs through the activation of the canonical Wnt receptor signaling pathway.',NULL,NULL,NULL,NULL,NULL),(11908,'UniProt Function',NULL,14302,NULL,'Transcriptional coactivator which acts as a downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. WWTR1 enhances PAX8 and NKX2-1/TTF1-dependent gene activation. Regulates the nuclear accumulation of SMADS and has a key role in coupling them to the transcriptional machinery such as the mediator complex. Regulates embryonic stem-cell self-renewal, promotes cell proliferation and epithelial-mesenchymal transition.',NULL,NULL,NULL,NULL,NULL),(11909,'UniProt Function',NULL,14305,NULL,'Promotes phosphatidylserine exposure on apoptotic cell surface, possibly by mediating phospholipid scrambling. Phosphatidylserine is a specific marker only present at the surface of apoptotic cells and acts as a specific signal for engulfment. Has no effect on calcium-induced exposure of phosphatidylserine. Activated upon caspase cleavage, suggesting that it does not act prior the onset of apoptosis.',NULL,NULL,NULL,NULL,NULL),(11910,'UniProt Function',NULL,14306,NULL,'Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, copper homeostasis, mitogenic kinase signaling, cell proliferation, as well as cell invasion and metastasis. Acts as a direct caspase inhibitor. Directly bind to the active site pocket of CASP3 and CASP7 and obstructs substrate entry. Inactivates CASP9 by keeping it in a monomeric, inactive state. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and the target proteins for its E3 ubiquitin-protein ligase activity include: RIPK1, CASP3, CASP7, CASP8, CASP9, MAP3K2/MEKK2, DIABLO/SMAC, AIFM1, CCS and BIRC5/survivin. Ubiquitinion of CCS leads to enhancement of its chaperone activity toward its physiologic target, SOD1, rather than proteasomal degradation. Ubiquitinion of MAP3K2/MEKK2 and AIFM1 does not lead to proteasomal degradation. Plays a role in copper homeostasis by ubiquitinationg COMMD1 and promoting its proteasomal degradation. Can also function as E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway, targeting effector caspases for neddylation and inactivation. Regulates the BMP signaling pathway and the SMAD and MAP3K7/TAK1 dependent pathways leading to NF-kappa-B and JNK activation. Acts as an important regulator of innate immune signaling via regulation of Nodlike receptors (NLRs). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8. Acts as a positive regulator of Wnt signaling and ubiquitinates TLE1, TLE2, TLE3, TLE4 and AES. Ubiquitination of TLE3 results in inhibition of its interaction with TCF7L2/TCF4 thereby allowing efficient recruitment and binding of the transcriptional coactivator beta-catenin to TCF7L2/TCF4 that is required to initiate a Wnt-specific transcriptional program.',NULL,NULL,NULL,NULL,NULL),(11911,'UniProt Function',NULL,14307,NULL,'Protects actin filaments from depolymerization.',NULL,NULL,NULL,NULL,NULL),(11912,'UniProt Function',NULL,14308,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity).',NULL,NULL,NULL,NULL,NULL),(11913,'UniProt Function',NULL,14309,NULL,'Protects actin filaments from depolymerization.',NULL,NULL,NULL,NULL,NULL),(11914,'UniProt Function',NULL,14310,NULL,'Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.',NULL,NULL,NULL,NULL,NULL),(11915,'UniProt Function',NULL,14311,NULL,'Plays a role in phosphate homeostasis. Mediates phosphate export from the cell (PubMed:23791524, PubMed:25938945). Binds inositol hexakisphosphate (Ins6P) and similar inositol polyphosphates, such as 5-diphospho-inositol pentakisphosphate (5-InsP7); these are important intracellular signaling molecules (PubMed:27080106).',NULL,NULL,NULL,NULL,NULL),(11916,'UniProt Function',NULL,14312,NULL,'Major 5\'-3\' exoribonuclease involved in mRNA decay. Required for the 5\'-3\'-processing of the G4 tetraplex-containing DNA and RNA substrates. The kinetic of hydrolysis is faster for G4 RNA tetraplex than for G4 DNA tetraplex and monomeric RNA tetraplex. Binds to RNA and DNA (By similarity). Plays a role in replication-dependent histone mRNA degradation. May act as a tumor suppressor protein in osteogenic sarcoma (OGS).',NULL,NULL,NULL,NULL,NULL),(11917,'UniProt Function',NULL,14315,NULL,'Mediates the nuclear export of cellular proteins (cargos) bearing a leucine-rich nuclear export signal (NES) and of RNAs. In the nucleus, in association with RANBP3, binds cooperatively to the NES on its target protein and to the GTPase RAN in its active GTP-bound form (Ran-GTP). Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Involved in U3 snoRNA transport from Cajal bodies to nucleoli. Binds to late precursor U3 snoRNA bearing a TMG cap.',NULL,NULL,NULL,NULL,NULL),(11918,'UniProt Function',NULL,14315,NULL,'(Microbial infection) Mediates the export of unspliced or incompletely spliced RNAs out of the nucleus from different viruses including HIV-1, HTLV-1 and influenza A. Interacts with, and mediates the nuclear export of HIV-1 Rev and HTLV-1 Rex proteins. Involved in HTLV-1 Rex multimerization.',NULL,NULL,NULL,NULL,NULL),(11919,'UniProt Function',NULL,14316,NULL,'Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:24981863, PubMed:29507755). Acts as a key regulator of m6A methylation by promoting m6A methylation of mRNAs in the 3\'-UTR near the stop codon: recruits the catalytic core components METTL3 and METTL14, thereby guiding m6A methylation at specific sites (PubMed:29507755). Required for mRNA polyadenylation via its role in selective m6A methylation: m6A methylation of mRNAs in the 3\'-UTR near the stop codon correlating with alternative polyadenylation (APA) (PubMed:29507755).',NULL,NULL,NULL,NULL,NULL),(11920,'UniProt Function',NULL,14319,NULL,'Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I.',NULL,NULL,NULL,NULL,NULL),(11921,'UniProt Function',NULL,14320,NULL,'Downstream effector molecules involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.',NULL,NULL,NULL,NULL,NULL),(11922,'UniProt Function',NULL,14322,NULL,'Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex (PubMed:12235133, PubMed:12769847, PubMed:16275905). Important for efficient actin polymerization (PubMed:8625410, PubMed:12235133, PubMed:16275905). Possible regulator of lymphocyte and platelet function (PubMed:9405671). Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria (PubMed:18650809). In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:20574068). Promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).',NULL,NULL,NULL,NULL,NULL),(11923,'UniProt Function',NULL,14323,NULL,'As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210).',NULL,NULL,NULL,NULL,NULL),(11924,'UniProt Function',NULL,14325,NULL,'Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated protein aggregates. In this process, may regulate the interaction of SQSTM1 with ubiquitinated proteins and also recruit MAP1LC3C (PubMed:28404643). May also be involved in maintenance of normal mitochondrial structure and organization (By similarity).',NULL,NULL,NULL,NULL,NULL),(11925,'UniProt Function',NULL,14326,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:26902720). Required for normal gastrulation, formation of the primitive streak, and for the formation of the mesoderm during early embryogenesis. Required for normal formation of the apical ectodermal ridge (By similarity). Required for normal embryonic development, and especially for limb development (PubMed:14872406).',NULL,NULL,NULL,NULL,NULL),(11926,'UniProt Function',NULL,14327,NULL,'Appears to be required for normal postnatal skeletal growth and cartilage homeostasis.',NULL,NULL,NULL,NULL,NULL),(11927,'UniProt Function',NULL,14328,NULL,'Regulates Wnt proteins sorting and secretion in a feedback regulatory mechanism. This reciprocal interaction plays a key role in the regulation of expression, subcellular location, binding and organelle-specific association of Wnt proteins. Plays also an important role in establishment of the anterior-posterior body axis formation during development (By similarity).',NULL,NULL,NULL,NULL,NULL),(11928,'UniProt Function',NULL,14329,NULL,'Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:20505359, PubMed:28561066). Involved in an early step of the formation of preautophagosomal structures (PubMed:20505359, PubMed:28561066). Binds and is activated by phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases (PubMed:28561066). Once activated, WIPI2 recruits at phagophore assembly sites the ATG12-ATG5-ATG16L1 complex that directly controls the elongation of the nascent autophagosomal membrane (PubMed:20505359, PubMed:28561066).',NULL,NULL,NULL,NULL,NULL),(11929,'UniProt Function',NULL,14329,NULL,'Isoform 4: Recruits the ATG12-ATG5-ATG16L1 complex to omegasomes and preautophagosomal structures, resulting in ATG8 family proteins lipidation and starvation-induced autophagy. Isoform 4 is also required for autophagic clearance of pathogenic bacteria. Isoform 4 binds the membrane surrounding Salmonella and recruits the ATG12-5-16L1 complex, initiating LC3 conjugation, autophagosomal membrane formation, and engulfment of Salmonella.',NULL,NULL,NULL,NULL,NULL),(11930,'UniProt Function',NULL,14330,NULL,'Receptor for ASNA1/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane.',NULL,NULL,NULL,NULL,NULL),(11931,'UniProt Function',NULL,14331,NULL,'Functions as a transcription factor during endoplasmic reticulum (ER) stress by regulating the unfolded protein response (UPR). Required for cardiac myogenesis and hepatogenesis during embryonic development, and the development of secretory tissues such as exocrine pancreas and salivary gland (By similarity). Involved in terminal differentiation of B lymphocytes to plasma cells and production of immunoglobulins (PubMed:11460154). Modulates the cellular response to ER stress in a PIK3R-dependent manner (PubMed:20348923). Binds to the cis-acting X box present in the promoter regions of major histocompatibility complex class II genes (PubMed:8349596). Involved in VEGF-induced endothelial cell (EC) proliferation and retinal blood vessel formation during embryonic development but also for angiogenesis in adult tissues under ischemic conditions. Functions also as a major regulator of the UPR in obesity-induced insulin resistance and type 2 diabetes for the management of obesity and diabetes prevention (By similarity).',NULL,NULL,NULL,NULL,NULL),(11932,'UniProt Function',NULL,14331,NULL,'Isoform 1: Plays a role in the unconventional cytoplasmic splicing processing of its own mRNA triggered by the endoplasmic reticulum (ER) transmembrane endoribonuclease ENR1: upon ER stress, the emerging XBP1 polypeptide chain, as part of a mRNA-ribosome-nascent chain (R-RNC) complex, cotranslationally recruits its own unprocessed mRNA through transient docking to the ER membrane and translational pausing, therefore facilitating efficient IRE1-mediated XBP1 mRNA isoform 2 production (PubMed:19394296, PubMed:21233347). In endothelial cells (EC), associated with KDR, promotes IRE1-mediated XBP1 mRNA isoform 2 productions in a vascular endothelial growth factor (VEGF)-dependent manner, leading to EC proliferation and angiogenesis (PubMed:23529610). Functions as a negative feed-back regulator of the potent transcription factor XBP1 isoform 2 protein levels through proteasome-mediated degradation, thus preventing the constitutive activation of the ER stress response signaling pathway (PubMed:16461360, PubMed:25239945). Inhibits the transactivation activity of XBP1 isoform 2 in myeloma cells (By similarity). Acts as a weak transcriptional factor (PubMed:8657566). Together with HDAC3, contributes to the activation of NFE2L2-mediated HMOX1 transcription factor gene expression in a PI(3)K/mTORC2/Akt-dependent signaling pathway leading to EC survival under disturbed flow/oxidative stress (PubMed:25190803). Binds to the ER stress response element (ERSE) upon ER stress (PubMed:11779464). Binds to the consensus 5\'-GATGACGTG[TG]N(3)[AT]T-3\' sequence related to cAMP responsive element (CRE)-like sequences (PubMed:8657566). Binds the Tax-responsive element (TRE) present in the long terminal repeat (LTR) of T-cell leukemia virus type 1 (HTLV-I) and to the TPA response elements (TRE) (PubMed:2321018, PubMed:2196176, PubMed:1903538, PubMed:8657566). Associates preferentially to the HDAC3 gene promoter region in a static flow-dependent manner (PubMed:25190803). Binds to the CDH5/VE-cadherin gene promoter region (PubMed:19416856).',NULL,NULL,NULL,NULL,NULL),(11933,'UniProt Function',NULL,14331,NULL,'Isoform 2: Functions as a stress-inducible potent transcriptional activator during endoplasmic reticulum (ER) stress by inducing unfolded protein response (UPR) target genes via binding to the UPR element (UPRE). Up-regulates target genes encoding ER chaperones and ER-associated degradation (ERAD) components to enhance the capacity of productive folding and degradation mechanism, respectively, in order to maintain the homeostasis of the ER under ER stress (PubMed:11779464, PubMed:25239945). Plays a role in the production of immunoglobulins and interleukin-6 in the presence of stimuli required for plasma cell differentiation (By similarity). Induces phospholipid biosynthesis and ER expansion (PubMed:15466483). Contributes to the VEGF-induced endothelial cell (EC) growth and proliferation in a Akt/GSK-dependent and/or -independent signaling pathway, respectively, leading to beta-catenin nuclear translocation and E2F2 gene expression (PubMed:23529610). Promotes umbilical vein EC apoptosis and atherosclerotisis development in a caspase-dependent signaling pathway, and contributes to VEGF-induced EC proliferation and angiogenesis in adult tissues under ischemic conditions (PubMed:19416856, PubMed:23529610). Involved in the regulation of endostatin-induced autophagy in EC through BECN1 transcriptional activation (PubMed:23184933). Plays a role as an oncogene by promoting tumor progression: stimulates zinc finger protein SNAI1 transcription to induce epithelial-to-mesenchymal (EMT) transition, cell migration and invasion of breast cancer cells (PubMed:25280941). Involved in adipocyte differentiation by regulating lipogenic gene expression during lactation. Plays a role in the survival of both dopaminergic neurons of the substantia nigra pars compacta (SNpc), by maintaining protein homeostasis and of myeloma cells. Increases insulin sensitivity in the liver as a response to a high carbohydrate diet, resulting in improved glucose tolerance. Improves also glucose homeostasis in an ER stress- and/or insulin-independent manner through both binding and proteasome-induced degradation of the transcription factor FOXO1, hence resulting in suppression of gluconeogenic genes expression and in a reduction of blood glucose levels. Controls the induction of de novo fatty acid synthesis in hepatocytes by regulating the expression of a subset of lipogenic genes in an ER stress- and UPR-independent manner (By similarity). Associates preferentially to the HDAC3 gene promoter region in a disturbed flow-dependent manner (PubMed:25190803). Binds to the BECN1 gene promoter region (PubMed:23184933). Binds to the CDH5/VE-cadherin gene promoter region (PubMed:19416856). Binds to the ER stress response element (ERSE) upon ER stress (PubMed:11779464). Binds to the 5\'-CCACG-3\' motif in the PPARG promoter (By similarity).',NULL,NULL,NULL,NULL,NULL),(11934,'UniProt Function',NULL,14332,NULL,'Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D, SGK1, TRPV5 and TRPV6. Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation which appears to prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel, KCNJ1, via a kinase-independent mechanism by which it induces clearance of the protein from the cell surface by clathrin-dependent endocytosis. WNK4 appears to act as a molecular switch that can vary the balance between NaCl reabsorption and K(+) secretion to maintain integrated homeostasis. Phosphorylates NEDD4L. Acts as a scaffold to inhibit SLC4A4 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity).',NULL,NULL,NULL,NULL,NULL),(11935,'UniProt Function',NULL,14333,NULL,'Export receptor for importin-alpha. Mediates importin-alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the importin-alpha from the export receptor. CSE1L/XPO2 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus.',NULL,NULL,NULL,NULL,NULL),(11936,'UniProt Function',NULL,14334,NULL,'Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO4 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus.',NULL,NULL,NULL,NULL,NULL),(11937,'UniProt Function',NULL,14335,NULL,'Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.',NULL,NULL,NULL,NULL,NULL),(11938,'UniProt Function',NULL,14336,NULL,'Promotes matrix assembly and cell adhesiveness. Plays a role in spinal cord formation by regulating the proliferation and differentiation of neural stem cells.',NULL,NULL,NULL,NULL,NULL),(11939,'UniProt Function',NULL,14338,NULL,'Involved in the ATP-dependent vesicular transport of biogenic amine neurotransmitters. Pumps cytosolic monoamines including dopamine, norepinephrine, serotonin, and histamine into synaptic vesicles (PubMed:23363473). Requisite for vesicular amine storage prior to secretion via exocytosis.',NULL,NULL,NULL,NULL,NULL),(11940,'UniProt Function',NULL,14339,NULL,'May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.',NULL,NULL,NULL,NULL,NULL),(11941,'UniProt Function',NULL,14340,NULL,'Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).',NULL,NULL,NULL,NULL,NULL),(11942,'UniProt Function',NULL,14341,NULL,'Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Involved in cytokinesis: retained at the midbody by ZFYVE19/ANCHR and CHMP4C until abscission checkpoint signaling is terminated at late cytokinesis. It is then released following dephosphorylation of CHMP4C, leading to abscission (PubMed:24814515). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(11943,'UniProt Function',NULL,14342,NULL,'Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane. Within the EARP complex, required to tether the complex to recycling endosomes. Not involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN).',NULL,NULL,NULL,NULL,NULL),(11944,'UniProt Function',NULL,14344,NULL,'May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.',NULL,NULL,NULL,NULL,NULL),(11945,'UniProt Function',NULL,14347,NULL,'Possesses 5\'->3\' exoribonuclease activity (By similarity). May promote the termination of transcription by RNA polymerase II. During transcription termination, cleavage at the polyadenylation site liberates a 5\' fragment which is subsequently processed to form the mature mRNA and a 3\' fragment which remains attached to the elongating polymerase. The processive degradation of this 3\' fragment by this protein may promote termination of transcription. Binds to RNA polymerase II (RNAp II) transcription termination R-loops formed by G-rich pause sites (PubMed:21700224).',NULL,NULL,NULL,NULL,NULL),(11946,'UniProt Function',NULL,14348,NULL,'Phosphorylates D-xylulose to produce D-xylulose 5-phosphate, a molecule that may play an important role in the regulation of glucose metabolism and lipogenesis.',NULL,NULL,NULL,NULL,NULL),(11947,'UniProt Function',NULL,14349,NULL,'Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA.',NULL,NULL,NULL,NULL,NULL),(11948,'UniProt Function',NULL,14350,NULL,'Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD21 paralog protein complex CX3 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex and seems to involve GEN1 during mitotic cell cycle progression. Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C.',NULL,NULL,NULL,NULL,NULL),(11949,'UniProt Function',NULL,14351,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11950,'UniProt Function',NULL,14352,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11951,'UniProt Function',NULL,14353,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11952,'UniProt Function',NULL,14354,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11953,'UniProt Function',NULL,14355,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11954,'UniProt Function',NULL,14356,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11955,'UniProt Function',NULL,14357,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11956,'UniProt Function',NULL,14358,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11957,'UniProt Function',NULL,14359,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11958,'UniProt Function',NULL,14360,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11959,'UniProt Function',NULL,14361,NULL,'Transmembrane protein which is abundantly expressed in interneurons, where it may regulate inhibitory synapse development. May mediate homophilic cell adhesion.',NULL,NULL,NULL,NULL,NULL),(11960,'UniProt Function',NULL,14362,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11961,'UniProt Function',NULL,14363,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11962,'UniProt Function',NULL,14364,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11963,'UniProt Function',NULL,14365,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11964,'UniProt Function',NULL,14366,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11965,'UniProt Function',NULL,14367,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11966,'UniProt Function',NULL,14368,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11967,'UniProt Function',NULL,14369,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11968,'UniProt Function',NULL,14370,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11969,'UniProt Function',NULL,14371,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11970,'UniProt Function',NULL,14372,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11971,'UniProt Function',NULL,14373,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11972,'UniProt Function',NULL,14374,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11973,'UniProt Function',NULL,14375,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11974,'UniProt Function',NULL,14376,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11975,'UniProt Function',NULL,14377,NULL,'V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11976,'UniProt Function',NULL,14378,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11977,'UniProt Function',NULL,14379,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11978,'UniProt Function',NULL,14380,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11979,'UniProt Function',NULL,14381,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11980,'UniProt Function',NULL,14382,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11981,'UniProt Function',NULL,14383,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11982,'UniProt Function',NULL,14384,NULL,'V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(11983,'UniProt Function',NULL,14388,NULL,'Possible role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(11984,'UniProt Function',NULL,14390,NULL,'Essential role in pre-mRNA splicing. Required in cell cycle progression for S/G(2) transition.',NULL,NULL,NULL,NULL,NULL),(11985,'UniProt Function',NULL,14391,NULL,'Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds.',NULL,NULL,NULL,NULL,NULL),(11986,'UniProt Function',NULL,14392,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(11987,'UniProt Function',NULL,14393,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, cell migration, and the cellular response to viral infection. Seems to be non-functional in the regulation of apoptosis.',NULL,NULL,NULL,NULL,NULL),(11988,'UniProt Function',NULL,14394,NULL,'Telomere-binding protein that acts as a regulator of telomere length (PubMed:28500257, PubMed:28082411). Directly binds the telomeric double-stranded 5\'-TTAGGG-3\' repeat (PubMed:28500257, PubMed:28082411). Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres (PubMed:28082411). Also acts as a transcription regulator that binds to promoter regions (PubMed:7969177, PubMed:24382891, PubMed:28500257). Regulates expression of a small subset of genes, including MTFP1 (PubMed:28500257). Regulates expression the J and/or S elements in MHC II promoter (PubMed:7969177). Acts as a negative regulator of cell proliferation by specifically activating expression of ARF, a tumor suppressor isoform of CDKN2A (PubMed:24382891).',NULL,NULL,NULL,NULL,NULL),(11989,'UniProt Function',NULL,14396,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes \'Lys-11\'- and \'Lys-48\'-, as well as \'Lys-63\'-linked polyubiquitination. Participates in the regulation of transepithelial sodium transport in renal cells. May be involved in cell growth arrest.',NULL,NULL,NULL,NULL,NULL),(11990,'UniProt Function',NULL,14398,NULL,'Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Plays a role in the proteasomal degradation of ubiquitinated cell-surface proteins, such as EGFR and BST2.',NULL,NULL,NULL,NULL,NULL),(11991,'UniProt Function',NULL,14399,NULL,'Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates \'Lys-48\'-linked polyubiquitination of substrates.',NULL,NULL,NULL,NULL,NULL),(11992,'UniProt Function',NULL,14400,NULL,'Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.',NULL,NULL,NULL,NULL,NULL),(11993,'UniProt Function',NULL,14401,NULL,'Recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element.',NULL,NULL,NULL,NULL,NULL),(11994,'UniProt Function',NULL,14402,NULL,'May play a role as NF-kappa-B regulator.',NULL,NULL,NULL,NULL,NULL),(11995,'UniProt Function',NULL,14403,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:22496338). Catalyzes \'Lys-11\'-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis. Acts by specifically elongating \'Lys-11\'-linked polyubiquitin chains initiated by the E2 enzyme UBE2C/UBCH10 on APC/C substrates, enhancing the degradation of APC/C substrates by the proteasome and promoting mitotic exit (PubMed:19820702, PubMed:19822757, PubMed:27259151). Also acts by elongating ubiquitin chains initiated by the E2 enzyme UBE2D1/UBCH5 in vitro; it is however unclear whether UBE2D1/UBCH5 acts as an E2 enzyme for the APC/C in vivo. Also involved in ubiquitination and subsequent degradation of VHL, resulting in an accumulation of HIF1A (PubMed:16819549). In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, except \'Lys-48\'-linked polyubiquitination (PubMed:20061386, PubMed:20622874).',NULL,NULL,NULL,NULL,NULL),(11996,'UniProt Function',NULL,14404,NULL,'May be involved in the negative control of osteogenic differentiation of osteochondrogenic precursor cells in peripheral zones of fetal cartilage and at the cartilage-bone interface.',NULL,NULL,NULL,NULL,NULL),(11997,'UniProt Function',NULL,14405,NULL,'Prevents transcriptional repression and induction of cell death by ENO1. May play a role in vesicular transport from endoplasmic reticulum to Golgi.',NULL,NULL,NULL,NULL,NULL),(11998,'UniProt Function',NULL,14407,NULL,'Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control. The DCX(TRUSS) complex specifically mediates the polyubiquitination and subsequent degradation of MYC. Also participates in the activation of NFKB1 in response to ligation of TNFRSF1A, possibly by linking TNFRSF1A to the IKK signalosome. Involved in JNK activation via its interaction with TRAF2. Also involved in elevation of endoplasmic reticulum Ca(2+) storage reduction in response to CHRM1.',NULL,NULL,NULL,NULL,NULL),(11999,'UniProt Function',NULL,14408,NULL,'Acts as a negative regulator of innate and adaptive immunity by maintaining immune homeostasis. Negative regulator of Toll-like receptor and T-cell receptor function. Prevents hyperresponsiveness of the immune system and maintains immune homeostasis. Inhibits JUN/AP1 and NF-kappa-B activation. Promotes Fas-induced apoptosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(12000,'UniProt Function',NULL,14409,NULL,'Acts as a lipid transfer protein. Preferentially captures and shuttles two lipid second messengers, i.e., phosphatidylinositol 4,5- bisphosphate and phosphatidylinositol 3,4,5-trisphosphate and increases their levels in the plasma membrane. Additionally, may also function as a lipid-presenting protein to enhance the activity of the PI3K-AKT and MEK-ERK pathways. May act as a regulator of tumorigenesis through its activation of phospholipid signaling.',NULL,NULL,NULL,NULL,NULL),(12001,'UniProt Function',NULL,14410,NULL,'Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction (PubMed:23170982). Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.',NULL,NULL,NULL,NULL,NULL),(12002,'UniProt Function',NULL,14411,NULL,'Probable adenosyl-L-methionine (AdoMet)-dependent tRNA (uracil-O(2)-)-methyltransferase.',NULL,NULL,NULL,NULL,NULL),(12003,'UniProt Function',NULL,14412,NULL,'Receptor-activated non-selective cation channel involved in detection of sensations such as coolness, by being activated by cold temperature below 25 degrees Celsius. Activated by icilin, eucalyptol, menthol, cold and modulation of intracellular pH. Involved in menthol sensation. Permeable for monovalent cations sodium, potassium, and cesium and divalent cation calcium. Temperature sensing is tightly linked to voltage-dependent gating. Activated upon depolarization, changes in temperature resulting in graded shifts of its voltage-dependent activation curves. The chemical agonist menthol functions as a gating modifier, shifting activation curves towards physiological membrane potentials. Temperature sensitivity arises from a tenfold difference in the activation energies associated with voltage-dependent opening and closing. In prostate cancer cells, shows strong inward rectification and high calcium selectivity in contrast to its behavior in normal cells which is characterized by outward rectification and poor cationic selectivity. Plays a role in prostate cancer cell migration (PubMed:25559186). Isoform 2 and isoform 3 negatively regulate menthol- and cold-induced channel activity by stabilizing the closed state of the channel.',NULL,NULL,NULL,NULL,NULL),(12004,'UniProt Function',NULL,14415,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(12005,'UniProt Function',NULL,14416,NULL,'RNA-binding protein that function as a pre-mRNA splicing factor. Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3\'-splice site selection. Acts by enhancing the binding of U2AF2 to weak pyrimidine tracts. Also participates in the regulation of alternative pre-mRNA splicing. Activates exon 5 skipping of PTPRC during T-cell activation; an event reversed by GFI1. Binds to RNA at the AG dinucleotide at the 3\'-splice site (By similarity). Shows a preference for AGC or AGA (By similarity).',NULL,NULL,NULL,NULL,NULL),(12006,'UniProt Function',NULL,14417,NULL,'Catalytic subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Down-regulates steroid receptor activity. Necessary for cell cycle progression.',NULL,NULL,NULL,NULL,NULL),(12007,'UniProt Function',NULL,14418,NULL,'Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its third SH3 domain.',NULL,NULL,NULL,NULL,NULL),(12008,'UniProt Function',NULL,14419,NULL,'Epithelial cell-specific Ca(2+)-regulated actin-modifying protein that modulates the reorganization of microvillar actin filaments. Plays a role in the actin nucleation, actin filament bundle assembly, actin filament capping and severing. Binds phosphatidylinositol 4,5-bisphosphate (PIP2) and lysophosphatidic acid (LPA); binds LPA with higher affinity than PIP2. Binding to LPA increases its phosphorylation by SRC and inhibits all actin-modifying activities. Binding to PIP2 inhibits actin-capping and -severing activities but enhances actin-bundling activity. Regulates the intestinal epithelial cell morphology, cell invasion, cell migration and apoptosis. Protects against apoptosis induced by dextran sodium sulfate (DSS) in the gastrointestinal epithelium. Appears to regulate cell death by maintaining mitochondrial integrity. Enhances hepatocyte growth factor (HGF)-induced epithelial cell motility, chemotaxis and wound repair. Upon S.flexneri cell infection, its actin-severing activity enhances actin-based motility of the bacteria and plays a role during the dissemination.',NULL,NULL,NULL,NULL,NULL),(12009,'UniProt Function',NULL,14421,NULL,'Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(12010,'UniProt Function',NULL,14422,NULL,'Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation.',NULL,NULL,NULL,NULL,NULL),(12011,'UniProt Function',NULL,14423,NULL,'May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages (PubMed:18474358). Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesicular bodies (MVBs) promoting MVBs maturation in megakaryocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(12012,'UniProt Function',NULL,14425,NULL,'Vitronectin is a cell adhesion and spreading factor found in serum and tissues. Vitronectin interact with glycosaminoglycans and proteoglycans. Is recognized by certain members of the integrin family and serves as a cell-to-substrate adhesion molecule. Inhibitor of the membrane-damaging effect of the terminal cytolytic complement pathway.',NULL,NULL,NULL,NULL,NULL),(12013,'UniProt Function',NULL,14425,NULL,'Somatomedin-B is a growth hormone-dependent serum factor with protease-inhibiting activity.',NULL,NULL,NULL,NULL,NULL),(12014,'UniProt Function',NULL,14427,NULL,'May play a role in meotic resumption and pronuclear formation, mediated by a WW domain-signaling pathway during fertilization.',NULL,NULL,NULL,NULL,NULL),(12015,'UniProt Function',NULL,14428,NULL,'Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:9724750, PubMed:19592703, PubMed:28781166). May play a role in cross-intron bridging of U1 and U2 snRNPs in the mammalian A complex (PubMed:9724750).',NULL,NULL,NULL,NULL,NULL),(12016,'UniProt Function',NULL,14429,NULL,'Acts as a linker between gene transcription and histone H2B monoubiquitination at \'Lys-120\' (H2BK120ub1) (PubMed:21329877). Interacts with the RNA polymerase II transcriptional machinery via its WW domain and with RNF20-RNF40 via its coiled coil region, thereby linking and regulating H2BK120ub1 and gene transcription (PubMed:21329877). Regulates the cell-cycle checkpoint activation in response to DNA damage (PubMed:21329877). Positive regulator of amino acid starvation-induced autophagy (PubMed:22354037). Also acts as a negative regulator of basal autophagy (PubMed:26812014). Positively regulates MTOR activity by promoting, in an energy-dependent manner, the assembly of the TTT complex composed of TELO2, TTI1 and TTI2 and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex. This leads to the dimerization of the mTORC1 complex and its subsequent activation (PubMed:26812014). May negatively regulate the ubiquitin proteasome pathway (PubMed:21329877).',NULL,NULL,NULL,NULL,NULL),(12017,'UniProt Function',NULL,14430,NULL,'Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (PubMed:22872859). Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit (PubMed:21326211).',NULL,NULL,NULL,NULL,NULL),(12018,'UniProt Function',NULL,14432,NULL,'Regulator of deubiquitinating complexes. Activates deubiquitinating activity of complexes containing USP12 (PubMed:20147737, PubMed:27373336). Anchors at the base of the ubiquitin-contacting loop of USP12 and remotely modulates the catalytic center of the enzyme (PubMed:27373336).',NULL,NULL,NULL,NULL,NULL),(12019,'UniProt Function',NULL,14433,NULL,'As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway (PubMed:23723238, PubMed:27166823). Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:26449471, PubMed:26586190, PubMed:27487210). In addition to its role in regulation of the TORC1 complex, promotes the acidification of lysosomes and facilitates autophagic flux (PubMed:27166823).',NULL,NULL,NULL,NULL,NULL),(12020,'UniProt Function',NULL,14434,NULL,'Nucleolar protein that acts as a modulator of rRNA synthesis. Plays a central role during organogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(12021,'UniProt Function',NULL,14435,NULL,'Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May play a role in meiosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(12022,'UniProt Function',NULL,14437,NULL,'Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:23435086, PubMed:28561066). Activated by the STK11/AMPK signaling pathway upon starvation, WDR45 is involved in autophagosome assembly downstream of WIPI2, regulating the size of forming autophagosomes (PubMed:28561066). Probably recruited to membranes through its PtdIns3P activity (PubMed:28561066).',NULL,NULL,NULL,NULL,NULL),(12023,'UniProt Function',NULL,14439,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors. Plays a role in embryonic patterning.',NULL,NULL,NULL,NULL,NULL),(12024,'UniProt Function',NULL,14440,NULL,'Acts as a negative regulator of entry into mitosis (G2 to M transition) by protecting the nucleus from cytoplasmically activated cyclin B1-complexed CDK1 before the onset of mitosis by mediating phosphorylation of CDK1 on \'Tyr-15\'. Specifically phosphorylates and inactivates cyclin B1-complexed CDK1 reaching a maximum during G2 phase and a minimum as cells enter M phase. Phosphorylation of cyclin B1-CDK1 occurs exclusively on \'Tyr-15\' and phosphorylation of monomeric CDK1 does not occur. Its activity increases during S and G2 phases and decreases at M phase when it is hyperphosphorylated. A correlated decrease in protein level occurs at M/G1 phase, probably due to its degradation.',NULL,NULL,NULL,NULL,NULL),(12025,'UniProt Function',NULL,14441,NULL,'Plays an active role in the formation of cell surface protrusions downstream of activated PDGFB receptors. Plays an important role in actin-microspike formation through cooperation with WASL. May cooperate with WASP and WASL to induce mobilization and reorganization of the actin filament system.',NULL,NULL,NULL,NULL,NULL),(12026,'UniProt Function',NULL,14442,NULL,'May be a regulator of cytoskeletal organization. May have a role in spermatogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(12027,'UniProt Function',NULL,14443,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal timing of IHH expression during embryonic bone development, normal chondrocyte maturation and for normal bone mineralization during embryonic bone development. Plays a redundant role in maintaining joint integrity.',NULL,NULL,NULL,NULL,NULL),(12028,'UniProt Function',NULL,14444,NULL,'Regulates (in vitro) the inhibition of rhodopsin phosphorylation in a calcium-dependent manner.',NULL,NULL,NULL,NULL,NULL),(12029,'UniProt Function',NULL,14445,NULL,'Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4. Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to produce (PP)2-InsP4. Activated when cells are exposed to hyperosmotic stress.',NULL,NULL,NULL,NULL,NULL),(12030,'UniProt Function',NULL,14446,NULL,'Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine.',NULL,NULL,NULL,NULL,NULL),(12031,'UniProt Function',NULL,14447,NULL,'Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation.',NULL,NULL,NULL,NULL,NULL),(12032,'UniProt Function',NULL,14448,NULL,'Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes (PubMed:25783203). Involved in cargo transport from early to late endosomes and required for the transition from early to late endosomes (PubMed:21148287). Involved in the retrograde Shiga toxin transport (PubMed:23593995).',NULL,NULL,NULL,NULL,NULL),(12033,'UniProt Function',NULL,14449,NULL,'Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and regulation of the enzyme for a specific organelle (By similarity).',NULL,NULL,NULL,NULL,NULL),(12034,'UniProt Function',NULL,14450,NULL,'Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS16 but not VIPAS39 (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770).',NULL,NULL,NULL,NULL,NULL),(12035,'UniProt Function',NULL,14451,NULL,'Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome-derived carriers to the TGN (PubMed:20685960). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061).',NULL,NULL,NULL,NULL,NULL),(12036,'UniProt Function',NULL,14452,NULL,'Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:18367545). Within the GARP complex, required to tether the complex to the TGN. Not involved in endocytic recycling (PubMed:25799061).',NULL,NULL,NULL,NULL,NULL),(12037,'UniProt Function',NULL,14455,NULL,'Cell adhesion-like membrane protein of the central nervous system (CNS) which modulates both the position and complexity of central neurons by altering their membrane morphology and dynamics. Involved in the formation of neuronal dendrites and protrusions including dendritic filopodia. In synaptogenesis, regulates synapse formation by altering dendritic spine morphology and actin distribution. Promotes formation of unstable neuronal spines such as thin and branched types. Regulates neuronal morphogenesis and migration during cortical development in the brain.',NULL,NULL,NULL,NULL,NULL),(12038,'UniProt Function',NULL,14457,NULL,'BMP antagonist which may play a role in neural development. Promotes cell adhesion (By similarity).',NULL,NULL,NULL,NULL,NULL),(12039,'UniProt Function',NULL,14458,NULL,'Acts as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Involved in endocytic trafficking of EGF. Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting. Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration. In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T-cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation. Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling. Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex. Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(12040,'UniProt Function',NULL,14459,NULL,'Plays a significant role in the specification and morphogenesis of the sensory retina. May also participate in the development of the cells of the inner nuclear layer, particularly bipolar cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(12041,'UniProt Function',NULL,14460,NULL,'Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission. Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1. Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35. Required for the endosomal recruitment of CCC complex subunits COMMD1, CCDC93 and C16orf62. Plays a role in fluid-phase endocytosis, a process exploited by vaccinia intracellular mature virus (IMV) to enter cells. As a result, may facilitate the penetration of IMV into cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(12042,'UniProt Function',NULL,14461,NULL,'Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission (PubMed:19922874, PubMed:20498093, PubMed:22513087, PubMed:23331060). Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35 (PubMed:24980502). Required for the endosomal recruitment of CCC complex subunits COMMD1, CCDC93 AND C16orf62 (PubMed:25355947). Plays a role in fluid-phase endocytosis, a process exploited by vaccinia intracellular mature virus (IMV) to enter cells. As a result, may facilitate the penetration of IMV into cells (PubMed:18550675).',NULL,NULL,NULL,NULL,NULL),(12043,'UniProt Function',NULL,14463,NULL,'Scaffold component of the nucleolar structure. Required for localization of DDX21 and NCL to the granular compartment of the nucleolus.',NULL,NULL,NULL,NULL,NULL),(12044,'UniProt Function',NULL,14465,NULL,'Involved in the Hedgehog (Hh) signaling pathway, is essential for normal ciliogenesis (PubMed:29263200). Regulates the proteolytic processing of GLI3 and cooperates with the transcription factor EMX1 in the induction of downstream Hh pathway gene expression and gonadotropin-releasing hormone production (PubMed:29263200). WDR11 complex facilitates the tethering of Adaptor protein-1 complex (AP-1)-derived vesicles. WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865).',NULL,NULL,NULL,NULL,NULL),(12045,'UniProt Function',NULL,14468,NULL,'Oocyte-specific protein tyrosine kinase that phosphorylates and inhibits CDK1/CDC2 and acts as a key regulator of meiosis during both prophase I and metaphase II (PubMed:29606300). Required to maintain meiotic arrest in oocytes during the germinal vesicle (GV) stage, a long period of quiescence at dictyate prophase I, by phosphorylating CDK1 at \'Tyr-15\', leading to inhibit CDK1 activity and prevent meiotic reentry. Also required for metaphase II exit during egg activation by phosphorylating CDK1 at \'Tyr-15\', to ensure exit from meiosis in oocytes and promote pronuclear formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(12046,'UniProt Function',NULL,14469,NULL,'Regulatory component of the SET1 complex implicated in the tethering of this complex to transcriptional start sites of active genes. Facilitates histone H3 \'Lys-4\' methylation via recruitment of the SETD1A or SETD1B to the \'Ser-5\' phosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A). Component of PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase.',NULL,NULL,NULL,NULL,NULL),(12047,'UniProt Function',NULL,14470,NULL,'Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20890278, PubMed:20729831). Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806).',NULL,NULL,NULL,NULL,NULL),(12048,'UniProt Function',NULL,14471,NULL,'Has growth inhibitory activity.',NULL,NULL,NULL,NULL,NULL),(12049,'UniProt Function',NULL,14472,NULL,'Acts as a nucleation-promoting factor (NPF) that stimulates Arp2/3-mediated actin polymerization both at the Golgi apparatus and along tubular membranes. Its activity in membrane tubulation requires F-actin and interaction with microtubules. Proposed to use coordinated actin-nucleating and microtubule-binding activities of distinct WHAMM molecules to drive membrane tubule elongation; when MT-bound can recruit and remodel membrane vesicles but is prevented to activate the Arp2/3 complex. Involved as a regulator of Golgi positioning and morphology. Participates in vesicle transport between the reticulum endoplasmic and the Golgi complex. Required for RhoD-dependent actin reorganization such as in cell adhesion and cell migration.',NULL,NULL,NULL,NULL,NULL),(12050,'UniProt Function',NULL,14473,NULL,'Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:28561066). Plays an important role in starvation- and calcium-mediated autophagy, as well as in mitophagy (PubMed:28561066). Functions downstream of the ULK1 and PI3-kinases that produce phosphatidylinositol 3-phosphate (PtdIns3P) on membranes of the endoplasmic reticulum once activated (PubMed:28561066). Binds phosphatidylinositol 3-phosphate (PtdIns3P), and maybe other phosphoinositides including PtdIns3,5P2 and PtdIns5P, and is recruited to phagophore assembly sites at the endoplasmic reticulum membranes (PubMed:28561066). There, it assists WIPI2 in the recruitment of ATG12-ATG5-ATG16L1, a complex that directly controls the elongation of the nascent autophagosomal membrane (PubMed:28561066). Involved in xenophagy of Staphylococcus aureus. Invading S.aureus cells become entrapped in autophagosome-like WIPI1 positive vesicles targeted for lysosomal degradation. Plays also a distinct role in controlling the transcription of melanogenic enzymes and melanosome maturation, a process that is distinct from starvation-induced autophagy. May also regulate the trafficking of proteins involved in the mannose-6-phosphate receptor (MPR) recycling pathway.',NULL,NULL,NULL,NULL,NULL),(12051,'UniProt Function',NULL,14474,NULL,'Member of the Wnt ligand gene family that encodes for secreted proteins, which activate the Wnt signaling cascade. Specifically activates canonical Wnt/beta-catenin signaling and thus triggers beta-catenin/LEF/TCF-mediated transcriptional programs. Involved in signaling networks controlling stemness, pluripotency and cell fate decisions. Acts in the immune system, mammary gland, adipose tissue, bone and skin.',NULL,NULL,NULL,NULL,NULL),(12052,'UniProt Function',NULL,14482,NULL,'Immunoregulatory receptor which inhibits the T-cell response (PubMed:24691993). May promote differentiation of embryonic stem cells, by inhibiting BMP4 signaling (By similarity). May stimulate MMP14-mediated MMP2 activation (PubMed:20666777).',NULL,NULL,NULL,NULL,NULL),(12053,'UniProt Function',NULL,14483,NULL,'Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine. Involved in the thymus homing of bone marrow cells. May regulate beta-2 integrin-mediated cell adhesion, migration and motility of neutrophil.',NULL,NULL,NULL,NULL,NULL),(12054,'UniProt Function',NULL,14484,NULL,'Putative pheromone receptor.',NULL,NULL,NULL,NULL,NULL),(12055,'UniProt Function',NULL,14485,NULL,'Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation.',NULL,NULL,NULL,NULL,NULL),(12056,'UniProt Function',NULL,14486,NULL,'Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation.',NULL,NULL,NULL,NULL,NULL),(12057,'UniProt Function',NULL,14487,NULL,'Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases.',NULL,NULL,NULL,NULL,NULL),(12058,'UniProt Function',NULL,14488,NULL,'Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells.',NULL,NULL,NULL,NULL,NULL),(12059,'UniProt Function',NULL,14489,NULL,'Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells. This complex presumably regulates Ig gene rearrangements in the early steps of B-cell differentiation.',NULL,NULL,NULL,NULL,NULL),(12060,'UniProt Function',NULL,14490,NULL,'Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases.',NULL,NULL,NULL,NULL,NULL),(12061,'UniProt Function',NULL,14491,NULL,'Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:25266290). Functions predominantly in APPL1-containing endosomes (PubMed:25266290).',NULL,NULL,NULL,NULL,NULL),(12062,'UniProt Function',NULL,14492,NULL,'Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5. Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (Probable). Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with ANKRD27 (PubMed:24856514).',NULL,NULL,NULL,NULL,NULL),(12063,'UniProt Function',NULL,14492,NULL,'(Microbial infection) The heterotrimeric retromer cargo-selective complex (CSC) mediates the exit of human papillomavirus from the early endosome and the delivery to the Golgi apparatus.',NULL,NULL,NULL,NULL,NULL),(12064,'UniProt Function',NULL,14493,NULL,'Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation.',NULL,NULL,NULL,NULL,NULL),(12065,'UniProt Function',NULL,14494,NULL,'Acts in an adapter protein-like fashion to mediate the interaction between the kinase PRKCZ and its substrate VAMP2 and increases the PRKCZ-dependent phosphorylation of VAMP2 (PubMed:17313651). Positively regulates adipocyte differentiation, by facilitating the phosphorylation and thus inactivation of the anti-adipogenetic transcription factor FOXO1 by the kinase AKT1 (PubMed:18388859). Plays a role in endosomal control of AKT2 signaling; required for insulin-stimulated AKT2 phosphorylation and glucose uptake and insulin-stimulated phosphorylation of AKT2 substrates (By similarity). Participates in transferrin receptor endocytosis (PubMed:16873553).',NULL,NULL,NULL,NULL,NULL),(12066,'UniProt Function',NULL,14495,NULL,'Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27103069, PubMed:27617292).',NULL,NULL,NULL,NULL,NULL),(12067,'UniProt Function',NULL,14497,NULL,'Induces disassembly of actin filaments in conjunction with ADF/cofilin family proteins (PubMed:15629458). Enhances cofilin-mediated actin severing (By similarity). Involved in cytokinesis. Involved in chemotactic cell migration by restricting lamellipodial membrane protrusions (PubMed:18494608). Involved in myocardium sarcomere organization. Required for cardiomyocyte growth and maintenance (By similarity). Involved in megakaryocyte maturation and platelet shedding. Required for the establishment of planar cell polarity (PCP) during follicular epithelium development and for cell shape changes during PCP; the function seems to implicate cooperation with CFL1 and/or DSTN/ADF. Involved in the generation/maintenance of cortical tension (By similarity). Involved in assembly and maintenance of epithelial apical cell junctions and plays a role in the organization of the perijunctional actomyosin belt (PubMed:25792565).',NULL,NULL,NULL,NULL,NULL),(12068,'UniProt Function',NULL,14498,NULL,'Positively regulates TLR3- and TLR4-mediated signaling pathways by bridging the interaction between TLR3 or TLR4 and TICAM1. Promotes TLR3/4 ligand-induced activation of transcription factors IRF3 and NF-kappa-B, as well as the production of IFN-beta and inflammatory cytokines (PubMed:25736436).',NULL,NULL,NULL,NULL,NULL),(12069,'UniProt Function',NULL,14499,NULL,'Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.',NULL,NULL,NULL,NULL,NULL),(12070,'UniProt Function',NULL,14500,NULL,'Broad range protease inhibitor.',NULL,NULL,NULL,NULL,NULL),(12071,'UniProt Function',NULL,14502,NULL,'Involved in the nucleolar processing of SSU 18S rRNA. Involved in T-cell activation and highly coregulated with IL2.',NULL,NULL,NULL,NULL,NULL),(12072,'UniProt Function',NULL,14503,NULL,'Molecular scaffold protein for various multimeric protein complexes. Acts as a module in the assembly of a multicomponent scaffold for the ERK pathway, linking ERK responses to specific agonists. At low concentrations it enhances ERK activation, whereas high concentrations lead to the inhibition of ERK activation. Also involved in response to hypoxia by acting as a negative regulator of HIF1A/HIF-1-alpha via its interaction with EGLN3/PHD3. May promote degradation of HIF1A. May act by recruiting signaling complexes to a specific upstream activator (By similarity). May also be involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(12073,'UniProt Function',NULL,14504,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt/beta-catenin signaling pathway. Plays a redundant role in embryonic lung development.',NULL,NULL,NULL,NULL,NULL),(12074,'UniProt Function',NULL,14505,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Plays an important role in the embryonic development of the urogenital tract and the lung (PubMed:15317892, PubMed:16959810, PubMed:18179883, PubMed:18182450). Required for normal mesenchyme to epithelium transition during embryonic kidney development. Required for the formation of early epithelial renal vesicles during kidney development (By similarity). Required for normal formation of the Mullerian duct in females, and normal levels of oocytes in the ovaries (PubMed:15317892, PubMed:16959810, PubMed:18182450). Required for normal down-regulation of 3 beta-hydroxysteroid dehydrogenase in the ovary (PubMed:15317892, PubMed:16959810, PubMed:18182450). Required for normal lung development and for normal patterning of trachael cartilage rings (By similarity).',NULL,NULL,NULL,NULL,NULL),(12075,'UniProt Function',NULL,14506,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(12076,'UniProt Function',NULL,14507,NULL,'Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides. This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen duplex DNA for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures into a stable recognition complex through an intrinsic single-stranded DNA-binding activity.',NULL,NULL,NULL,NULL,NULL),(12077,'UniProt Function',NULL,14507,NULL,'The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5\'-to-3\' direction by the NER machinery. Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair. In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA and also binds to a variety of chemically and structurally diverse DNA adducts. XPC:RAD23B contacts DNA both 5\' and 3\' of a cisplatin lesion with a preference for the 5\' side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B stimulates the activity of DNA glycosylases TDG and SMUG1.',NULL,NULL,NULL,NULL,NULL),(12078,'UniProt Function',NULL,14508,NULL,'May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(12079,'UniProt Function',NULL,14509,NULL,'Putative pheromone receptor.',NULL,NULL,NULL,NULL,NULL),(12080,'UniProt Function',NULL,14510,NULL,'Stress-induced protein that, when overexpressed, promotes formation of intracellular vacuoles followed by cell death. May be involved in the cytoplasmic vacuolization of acinar cells during the early stage of acute pancreatitis. Plays a role in the initial stages of the autophagic process through its interaction with BECN1 (By similarity). Involved in cell-cell adhesion. Plays an essential role in formation of cell junctions (PubMed:17724469). Required for autophagosome formation (PubMed:30093494).',NULL,NULL,NULL,NULL,NULL),(12081,'UniProt Function',NULL,14511,NULL,'Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. Its ability to bind ubiquitin probably plays a role in endosomal sorting of ubiquitinated cargo proteins by ESCRT complexes. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. Binds phosphoinosides such as PtdIns(3,4,5)P3.',NULL,NULL,NULL,NULL,NULL),(12082,'UniProt Function',NULL,14512,NULL,'Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(12083,'UniProt Function',NULL,14513,NULL,'Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes (PubMed:25783203). Involved in dendrite development of Pukinje cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(12084,'UniProt Function',NULL,14514,NULL,'Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act in part as a core component of the putative HOPS endosomal tethering complex is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes (PubMed:23351085). Involved in homotypic vesicle fusions between late endosomes and in heterotypic fusions between late endosomes and lysosomes implicated in degradation of endocytosed cargo (PubMed:9159129, PubMed:23167963, PubMed:25445562, PubMed:25908847). Required for fusion of autophagosomes with lysosomes (PubMed:25783203). May link the HOPS complex to endosomal Rab7 via its association with RILP and to lysosomal membranes via its association with ARL8B, suggesting that these interactions may bring the compartments to close proximity for fusion (PubMed:25445562, PubMed:25908847). Involved in the direct trans-Golgi network to late endosomes transport of lysosomal membrane proteins independently of HOPS (PubMed:23322049). Involved in sorting to the regulated secretory pathway presumably implicating the AP-3 adaptor complex (By similarity). May play a role in HOPS-independent function in the regulated secretory pathway (PubMed:24210660).',NULL,NULL,NULL,NULL,NULL),(12085,'UniProt Function',NULL,14518,NULL,'V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. Involved in vesicular transport from the late endosomes to the trans-Golgi network. Along with VAMP7, involved in an non-conventional RAB1-dependent traffic route to the cell surface used by KCNIP1 and KCND2. May be involved in increased cytokine secretion associated with cellular senescence.',NULL,NULL,NULL,NULL,NULL),(12086,'UniProt Function',NULL,14519,NULL,'V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. May be concerned with increased secretion of cytokines associated with cellular senescence.',NULL,NULL,NULL,NULL,NULL),(12087,'UniProt Function',NULL,14522,NULL,'Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport (PubMed:20889716). Involved in cilia function and/or assembly (By similarity). Associates with the BBSome complex to mediate ciliary transport (By similarity).',NULL,NULL,NULL,NULL,NULL),(12088,'UniProt Function',NULL,14526,NULL,'Acts as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922874, PubMed:19922875, PubMed:20498093, PubMed:23452853). Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting (PubMed:20498093). Involved in endocytic trafficking of EGF (By similarity). Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration (PubMed:22114305). In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation (By similarity). Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling. Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex (PubMed:24344185). Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(12089,'UniProt Function',NULL,14527,NULL,'Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 and USP46 (PubMed:18082604, PubMed:19075014, PubMed:26388029). Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself (PubMed:18082604). Also activates deubiquitinating activity of complexes containing USP12 (PubMed:19075014, PubMed:27650958, PubMed:27373336). Docks at the distal end of the USP12 fingers domain and induces a cascade of structural changes leading to the activation of the enzyme (PubMed:27650958, PubMed:27373336). Activates deubiquitination by increasing the catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate (PubMed:19075014, PubMed:27373336). In complex with USP12, acts as a potential tumor suppressor by positively regulating PHLPP1 stability (PubMed:24145035). In case of infection by Herpesvirus saimiri, may play a role in vesicular transport or membrane fusion events necessary for transport to lysosomes. Induces lysosomal vesicle formation via interaction with Herpesvirus saimiri tyrosine kinase-interacting protein (TIP). Subsequently, TIP recruits tyrosine-protein kinase LCK, resulting in down-regulation of T-cell antigen receptor TCR. May play a role in generation of enlarged endosomal vesicles via interaction with TIP (PubMed:12196293). In case of infection by papillomavirus HPV11, promotes the maintenance of the viral genome via its interaction with HPV11 helicase E1 (PubMed:18032488).',NULL,NULL,NULL,NULL,NULL),(12090,'UniProt Function',NULL,14528,NULL,'Regulatory protein of the MTREX-exosome complex involved in the synthesis of the 60S ribosomal subunit (PubMed:26456651). Participates in an early cleavage of the pre-rRNA processing pathway in cooperation with NVL (PubMed:29107693). Required for blastocyst formation, is necessary for RNA transcription, processing and/or stability during preimplantation development (By similarity).',NULL,NULL,NULL,NULL,NULL),(12091,'UniProt Function',NULL,14530,NULL,'Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I.',NULL,NULL,NULL,NULL,NULL),(12092,'UniProt Function',NULL,14532,NULL,'Contributes to histone modification. May position the N-terminus of histone H3 for efficient trimethylation at \'Lys-4\'. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at \'Lys-4\' of histone H3. H3 \'Lys-4\' methylation represents a specific tag for epigenetic transcriptional activation. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. May regulate osteoblasts differentiation.',NULL,NULL,NULL,NULL,NULL),(12093,'UniProt Function',NULL,14533,NULL,'Downstream regulator in the Wnt/Frizzled-signaling pathway. Associated with cell survival. Attenuates p53-mediated apoptosis in response to DNA damage through activation of AKT kinase. Up-regulates the anti-apoptotic Bcl-X(L) protein. Adheres to skin and melanoma fibroblasts. In vitro binding to skin fibroblasts occurs through the proteoglycans, decorin and biglycan.',NULL,NULL,NULL,NULL,NULL),(12094,'UniProt Function',NULL,14534,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors. May play an important role in the development and differentiation of certain forebrain structures, notably the hippocampus.',NULL,NULL,NULL,NULL,NULL),(12095,'UniProt Function',NULL,14535,NULL,'Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes type II iodothyronine deiodinase/DIO2. Confers constitutive instability to HIPK2 through proteasomal degradation.',NULL,NULL,NULL,NULL,NULL),(12096,'UniProt Function',NULL,14536,NULL,'Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively (PubMed:16275913, PubMed:16275911, PubMed:16357011). Phosphorylates WNK4. Regulates the phosphorylation of SLC12A1 and SLC12A2. Increases Ca(2+) influx mediated by TRPV5 and TRPV6 by enhancing their membrane expression level via a kinase-dependent pathway (PubMed:18768590). Inhibits the activity of KCNJ1 by decreasing its expression at the cell membrane in a non-catalytic manner.',NULL,NULL,NULL,NULL,NULL),(12097,'UniProt Function',NULL,14536,NULL,'Isoform 1, isoform 2, isoform 3 and isoform 4 stimulate the activity of SLC12A1, SLC12A2 and SLC12A3 and inhibit the activity of SLC12A4, SLC12A5, SLC12A6 and SLC12A7. According to PubMed:19470686, isoform 1 inhibits the activity of SLC12A3.',NULL,NULL,NULL,NULL,NULL),(12098,'UniProt Function',NULL,14537,NULL,'Receptor for chemokines SCYC1 and SCYC2. Subsequently transduces a signal by increasing the intracellular calcium ions level. Receptor for XCL1/Lymphotactin.',NULL,NULL,NULL,NULL,NULL),(12099,'UniProt Function',NULL,14540,NULL,'Involved in vitamin K metabolism. Can reduce inactive vitamin K 2,3-epoxide to active vitamin K (in vitro), and may contribute to vitamin K-mediated protection against oxidative stress. Plays a role in vitamin K-dependent gamma-carboxylation of Glu residues in target proteins.',NULL,NULL,NULL,NULL,NULL),(12100,'UniProt Function',NULL,14541,NULL,'Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of Dab1 and modulation of Tau phosphorylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(12101,'UniProt Function',NULL,14542,NULL,'Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine.',NULL,NULL,NULL,NULL,NULL),(12102,'UniProt Function',NULL,14543,NULL,'Putative pheromone receptor.',NULL,NULL,NULL,NULL,NULL),(12103,'UniProt Function',NULL,14544,NULL,'Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(12104,'UniProt Function',NULL,14545,NULL,'Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061).',NULL,NULL,NULL,NULL,NULL),(12105,'UniProt Function',NULL,14546,NULL,'Component of the ESCRT-I complex, a regulator of vesicular trafficking process.',NULL,NULL,NULL,NULL,NULL),(12106,'UniProt Function',NULL,14547,NULL,'Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(12107,'UniProt Function',NULL,14548,NULL,'May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.',NULL,NULL,NULL,NULL,NULL),(12108,'UniProt Function',NULL,14549,NULL,'Serine/threonine kinase that regulates several signal transduction pathways. Isoform 1 modulates the stress response to hypoxia and cytokines, such as interleukin-1 beta (IL1B) and this is dependent on its interaction with MAPK8IP1, which assembles mitogen-activated protein kinase (MAPK) complexes. Inhibition of signal transmission mediated by the assembly of MAPK8IP1-MAPK complexes reduces JNK phosphorylation and JUN-dependent transcription. Phosphorylates \'Thr-18\' of p53/TP53, histone H3, and may also phosphorylate MAPK8IP1. Phosphorylates BANF1 and disrupts its ability to bind DNA and reduces its binding to LEM domain-containing proteins. Downregulates the transactivation of transcription induced by ERBB2, HRAS, BRAF, and MEK1. Blocks the phosphorylation of ERK in response to ERBB2 and HRAS. Can also phosphorylate the following substrates that are commonly used to establish in vitro kinase activity: casein, MBP and histone H2B, but it is not sure that this is physiologically relevant.',NULL,NULL,NULL,NULL,NULL),(12109,'UniProt Function',NULL,14549,NULL,'Isoform 2 phosphorylates \'Thr-18\' of p53/TP53, as well as histone H3. Reduces p53/TP53 ubiquitination by MDM2, promotes p53/TP53 acetylation by EP300 and thereby increases p53/TP53 stability and activity.',NULL,NULL,NULL,NULL,NULL),(12110,'UniProt Function',NULL,14550,NULL,'Plays a role in the regulation of the early stage of white and brown preadipocyte cell differentiation. Promotes adipogenic commitment of preadipocytes by increasing gene expression of the transcription factor PPARG in a BMP4-dependent signaling pathway.',NULL,NULL,NULL,NULL,NULL),(12111,'UniProt Function',NULL,14551,NULL,'Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster. May regulate the activity of the LCR and the cone opsin genes at earlier stages of development.',NULL,NULL,NULL,NULL,NULL),(12112,'UniProt Function',NULL,14552,NULL,'Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma.',NULL,NULL,NULL,NULL,NULL),(12113,'UniProt Function',NULL,14555,NULL,'Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC.',NULL,NULL,NULL,NULL,NULL),(12114,'UniProt Function',NULL,14556,NULL,'Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at \'Thr-184\' and \'Thr-187\' upon Il-1 beta stimulation.',NULL,NULL,NULL,NULL,NULL),(12115,'UniProt Function',NULL,14557,NULL,'As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport, it is involved in ciliogenesis (PubMed:21473986, PubMed:28400947). May promote CASP3 activation and TNF-stimulated apoptosis.',NULL,NULL,NULL,NULL,NULL),(12116,'UniProt Function',NULL,14559,NULL,'Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.',NULL,NULL,NULL,NULL,NULL),(12117,'UniProt Function',NULL,14560,NULL,'Activates pre-mRNA splicing. May inhibit PP1 phosphatase activity.',NULL,NULL,NULL,NULL,NULL),(12118,'UniProt Function',NULL,14561,NULL,'May play an important role in modulating bone turnover. Promotes the adhesion of osteoblast cells and inhibits the binding of fibrinogen to integrin receptors. In addition, inhibits osteocalcin production.',NULL,NULL,NULL,NULL,NULL),(12119,'UniProt Function',NULL,14562,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:30026314). Required for normal fusion of the chorion and the allantois during placenta development (By similarity). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (PubMed:30026314).',NULL,NULL,NULL,NULL,NULL),(12120,'UniProt Function',NULL,14563,NULL,'Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D and SGK1. Controls sodium and chloride ion transport by inhibiting the activity of WNK4, by either phosphorylating the kinase or via an interaction between WNK4 and the autoinhibitory domain of WNK1. WNK4 regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation. WNK1 may also play a role in actin cytoskeletal reorganization. Phosphorylates NEDD4L. Acts as a scaffold to inhibit SLC4A4, SLC26A6 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity).',NULL,NULL,NULL,NULL,NULL),(12121,'UniProt Function',NULL,14563,NULL,'Isoform 3: Dominant-negative regulator of the longer isoform 1. Does not have kinase activity, does not directly inhibit WNK4 and has no direct effect on sodium and chloride ion transport. Downregulates sodium-chloride cotransporter activity indirectly by inhibiting isoform 1, it associates with isoform 1 and attenuates its kinase activity. In kidney, may play an important role regulating sodium and potassium balance.',NULL,NULL,NULL,NULL,NULL),(12122,'UniProt Function',NULL,14564,NULL,'Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signaling and TGFB1-mediated cell death. May also play a role in tumor necrosis factor (TNF)-mediated cell death. Inhibits Wnt signaling, probably by sequestering DVL2 in the cytoplasm.',NULL,NULL,NULL,NULL,NULL),(12123,'UniProt Function',NULL,14565,NULL,'Functions as a modulator of initiation or reinitiation events during DNA polymerase delta-mediated DNA synthesis. In the presence of ATP, stimulation of DNA polymerase delta-mediated DNA synthesis is decreased. Plays also a role in the innate immune defense against viruses. Stabilizes the RIG-I/DDX58 dsRNA interaction and promotes RIG-I/DDX58 \'Lys-63\'-linked polyubiquitination. In turn, RIG-I/DDX58 transmits the signal through mitochondrial MAVS.',NULL,NULL,NULL,NULL,NULL),(12124,'UniProt Function',NULL,14566,NULL,'Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either laterally or terminally.',NULL,NULL,NULL,NULL,NULL),(12125,'UniProt Function',NULL,14566,NULL,'Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2.',NULL,NULL,NULL,NULL,NULL),(12126,'UniProt Function',NULL,14567,NULL,'Putative pheromone receptor.',NULL,NULL,NULL,NULL,NULL),(12127,'UniProt Function',NULL,14568,NULL,'Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential. Involved in the regulation of PINK1/PRKN-mediated mitophagy in response to mitochondrial depolarization.',NULL,NULL,NULL,NULL,NULL),(12128,'UniProt Function',NULL,14569,NULL,'Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation.',NULL,NULL,NULL,NULL,NULL),(12129,'UniProt Function',NULL,14570,NULL,'Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.',NULL,NULL,NULL,NULL,NULL),(12130,'UniProt Function',NULL,14571,NULL,'Regulator of TGF-beta/activin signaling, inhibiting SMAD3- and activating SMAD2-dependent transcription. Acts by interfering with SMAD3/SMAD4 complex formation, this would lead to inhibition of SMAD3-dependent transcription and relieve SMAD3 inhibition of SMAD2-dependent promoters, thus increasing SMAD2-dependent transcription. Does not affect TGF-beta-induced SMAD2 or SMAD3 phosphorylation, nor SMAD2/SMAD4 complex formation.',NULL,NULL,NULL,NULL,NULL),(12131,'UniProt Function',NULL,14571,NULL,'Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act in part as a component of the putative HOPS endosomal tethering complex which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes (PubMed:23351085). Involved in homotypic vesicle fusions between late endosomes and in heterotypic fusions between late endosomes and lysosomes (PubMed:11448994, PubMed:23351085, PubMed:23167963). Required for fusion of endosomes and autophagosomes with lysosomes (PubMed:25783203).',NULL,NULL,NULL,NULL,NULL),(12132,'UniProt Function',NULL,14572,NULL,'Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(12133,'UniProt Function',NULL,14573,NULL,'Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(12134,'UniProt Function',NULL,14574,NULL,'Inactive kinase that suppresses ERK activity by promoting phosphatase activity of DUSP3 which specifically dephosphorylates and inactivates ERK in the nucleus.',NULL,NULL,NULL,NULL,NULL),(12135,'UniProt Function',NULL,14575,NULL,'Involved in the endosomal multivesicular bodies (MVB) pathway. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. Thought to be a cofactor of VPS4A/B, which catalyzes disassembles membrane-associated ESCRT-III assemblies. Involved in the sorting and down-regulation of EGFR (By similarity). Involved in HIV-1 budding.',NULL,NULL,NULL,NULL,NULL),(12136,'UniProt Function',NULL,14578,NULL,'Required for selective macroautophagy (aggrephagy). Acts as an adapter protein by linking specific proteins destined for degradation to the core autophagic machinery members, such as the ATG5-ATG12-ATG16L E3-like ligase, SQSTM1 and LC3 (PubMed:20417604). Along with p62/SQSTM1, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with SQSTM1, required to recruit ubiquitinated proteins to PML bodies in the nucleus (PubMed:20168092). Important for normal brain development. Essential for the formation of axonal tracts throughout the brain and spinal cord, including the formation of the major forebrain commissures. Involved in the ability of neural cells to respond to guidance cues. Required for cortical neurons to respond to the trophic effects of netrin-1/NTN1 (By similarity). Regulates Wnt signaling through the removal of DVL3 aggregates, likely in an autophagy-dependent manner. This process may be important for the determination of brain size during embryonic development (PubMed:27008544). May regulate osteoclastogenesis by acting on the TNFSF11/RANKL - TRAF6 pathway (By similarity). After cytokinetic abscission, involved in midbody remnant degradation (PubMed:24128730). In vitro strongly binds to phosphatidylinositol 3-phosphate (PtdIns3P) (PubMed:15292400).',NULL,NULL,NULL,NULL,NULL),(12137,'UniProt Function',NULL,14579,NULL,'Acts as a replication initiation factor that brings together the MCM2-7 helicase and the DNA polymerase alpha/primase complex in order to initiate DNA replication.',NULL,NULL,NULL,NULL,NULL),(12138,'UniProt Function',NULL,14580,NULL,'Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity). As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).',NULL,NULL,NULL,NULL,NULL),(12139,'UniProt Function',NULL,14582,NULL,'Regulates actin polymerization by stimulating the actin-nucleating activity of the Arp2/3 complex (PubMed:9422512, PubMed:16767080, PubMed:19366662, PubMed:19487689, PubMed:22847007, PubMed:22921828). Involved in various processes, such as mitosis and cytokinesis, via its role in the regulation of actin polymerization (PubMed:9422512, PubMed:19366662, PubMed:19487689, PubMed:22847007, PubMed:22921828). Together with CDC42, involved in the extension and maintenance of the formation of thin, actin-rich surface projections called filopodia (PubMed:9422512). In addition to its role in the cytoplasm, also plays a role in the nucleus by regulating gene transcription, probably by promoting nuclear actin polymerization (PubMed:16767080). Binds to HSF1/HSTF1 and forms a complex on heat shock promoter elements (HSE) that negatively regulates HSP90 expression (By similarity). Plays a role in dendrite spine morphogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(12140,'UniProt Function',NULL,14583,NULL,'May play a role in the regulation of microtubule organization and dynamics (PubMed:25466283).',NULL,NULL,NULL,NULL,NULL),(12141,'UniProt Function',NULL,14585,NULL,'Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(12142,'UniProt Function',NULL,14586,NULL,'Putative pheromone receptor.',NULL,NULL,NULL,NULL,NULL),(12143,'UniProt Function',NULL,14587,NULL,'Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution (By similarity).',NULL,NULL,NULL,NULL,NULL),(12144,'UniProt Function',NULL,14588,NULL,'Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases.',NULL,NULL,NULL,NULL,NULL),(12145,'UniProt Function',NULL,14589,NULL,'Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases.',NULL,NULL,NULL,NULL,NULL),(12146,'UniProt Function',NULL,14590,NULL,'Phagocytic receptor, strong negative regulator of T-cell proliferation and IL2 production. Potent inhibitor of the alternative complement pathway convertases.',NULL,NULL,NULL,NULL,NULL),(12147,'UniProt Function',NULL,14591,NULL,'Exhibits ATPase activity in vitro.',NULL,NULL,NULL,NULL,NULL),(12148,'UniProt Function',NULL,14592,NULL,'May play a role in neurogenesis. May play a role in bone differentiation and matrix mineralization.',NULL,NULL,NULL,NULL,NULL),(12149,'UniProt Function',NULL,14593,NULL,'Promotes matrix assembly.',NULL,NULL,NULL,NULL,NULL),(12150,'UniProt Function',NULL,14596,NULL,'Regulator of sister chromatid cohesion in mitosis which negatively regulates cohesin association with chromatin. Involved in both sister chromatid cohesion during interphase and sister-chromatid resolution during early stages of mitosis. Couples DNA replication to sister chromatid cohesion. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair.',NULL,NULL,NULL,NULL,NULL),(12151,'UniProt Function',NULL,14597,NULL,'Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in the regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093).',NULL,NULL,NULL,NULL,NULL),(12152,'UniProt Function',NULL,14598,NULL,'Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). May be involved in axonal outgrowth. Involved in cellular localization of ADRB2 (PubMed:23085491). Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (PubMed:23676666).',NULL,NULL,NULL,NULL,NULL),(12153,'UniProt Function',NULL,14599,NULL,'May act as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting.',NULL,NULL,NULL,NULL,NULL),(12154,'UniProt Function',NULL,14600,NULL,'May act as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting.',NULL,NULL,NULL,NULL,NULL),(12155,'UniProt Function',NULL,14601,NULL,'Required for efficient primary cilium formation.',NULL,NULL,NULL,NULL,NULL),(12156,'UniProt Function',NULL,14602,NULL,'G-beta-like protein involved in cell signal transduction (PubMed:15378603, PubMed:19446606, PubMed:22065575, PubMed:23625927, PubMed:27098453, PubMed:26895380). Acts as a negative regulator in MAPK signaling pathway (PubMed:15378603). Functions as a scaffolding protein to promote G beta:gamma-mediated PLCB2 plasma membrane translocation and subsequent activation in leukocytes (PubMed:22065575, PubMed:23625927). Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Acts as a negative regulator of the canonical Wnt signaling pathway through preventing ubiquitination of beta-catenin CTNNB1 by the beta-catenin destruction complex, thus negatively regulating CTNNB1 degradation (PubMed:27098453). Serves as a scaffold to coordinate PI3K/AKT pathway-driven cell growth and migration (PubMed:26895380). Protects cells from oxidative stress-induced apoptosis via the down-regulation of AP-1 transcriptional activity as well as by inhibiting cytochrome c release from mitochondria (PubMed:19446606). Protects also cells by promoting hypoxia-mediated autophagy and mitophagy (By similarity).',NULL,NULL,NULL,NULL,NULL),(12157,'UniProt Function',NULL,14608,NULL,'Antibacterial protein. Putative acid-stable proteinase inhibitor.',NULL,NULL,NULL,NULL,NULL),(12158,'UniProt Function',NULL,14609,NULL,'Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store.',NULL,NULL,NULL,NULL,NULL),(12159,'UniProt Function',NULL,14610,NULL,'Plays a role in the reorganization of the actin cytoskeleton. Contributes with NCK1 and GRB2 in the recruitment and activation of WASL. May participate in regulating the subcellular localization of WASL, resulting in the disassembly of stress fibers in favor of filopodia formation. Plays a role in the formation of cell ruffles (By similarity). Plays an important role in the intracellular motility of vaccinia virus by functioning as an adapter for recruiting WASL to vaccinia virus.',NULL,NULL,NULL,NULL,NULL),(12160,'UniProt Function',NULL,14611,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal embryonic kidney development, and for normal development of the urogenital tract, including uterus and part of the oviduct and the upper vagina in females, and epididymis and vas deferens in males. Activates a signaling cascade in the metanephric mesenchyme that induces tubulogenesis. Acts upstream of WNT4 in the signaling pathways that mediate development of kidney tubules and the Muellerian ducts. Plays a role in cranofacial development and is required for normal fusion of the palate during embryonic development (By similarity).',NULL,NULL,NULL,NULL,NULL),(12161,'UniProt Function',NULL,14612,NULL,'Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:28561066). Binds phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases and is recruited at phagophore assembly sites where it regulates the elongation of nascent phagophores downstream of WIPI2 (PubMed:28561066). In the cellular response to starvation, may also function together with the TSC1-TSC2 complex and RB1CC1 in the inhibition of the mTORC1 signaling pathway (PubMed:28503735).',NULL,NULL,NULL,NULL,NULL),(12162,'UniProt Function',NULL,14613,NULL,'Seems to function as a negative regulator of members of the IAP (inhibitor of apoptosis protein) family. Inhibits anti-caspase activity of BIRC4. Induces cleavage and inactivation of BIRC4 independent of caspase activation. Mediates TNF-alpha-induced apoptosis and is involved in apoptosis in trophoblast cells. May inhibit BIRC4 indirectly by activating the mitochondrial apoptosis pathway. After translocation to mitochondria, promotes translocation of BAX to mitochondria and cytochrome c release from mitochondria. Seems to promote the redistribution of BIRC4 from the cytoplasm to the nucleus, probably independent of BIRC4 inactivation which seems to occur in the cytoplasm. The BIRC4-XAF1 complex mediates down-regulation of BIRC5/survivin; the process requires the E3 ligase activity of BIRC4. Seems to be involved in cellular sensitivity to the proapoptotic actions of TRAIL. May be a tumor suppressor by mediating apoptosis resistance of cancer cells.',NULL,NULL,NULL,NULL,NULL),(12163,'UniProt Function',NULL,14614,NULL,'Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution (By similarity).',NULL,NULL,NULL,NULL,NULL),(12164,'UniProt Function',NULL,14615,NULL,'Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061).',NULL,NULL,NULL,NULL,NULL),(12165,'UniProt Function',NULL,14616,NULL,'Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. The ESCRT-II complex may be involved in facilitating the budding of certain RNA viruses.',NULL,NULL,NULL,NULL,NULL),(12166,'UniProt Function',NULL,14617,NULL,'May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma.',NULL,NULL,NULL,NULL,NULL),(12167,'UniProt Function',NULL,14619,NULL,'Downstream effector for RAB11. May be involved in vesicle recycling (By similarity).',NULL,NULL,NULL,NULL,NULL),(12168,'UniProt Function',NULL,14620,NULL,'Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex.',NULL,NULL,NULL,NULL,NULL),(12169,'UniProt Function',NULL,14621,NULL,'Enhances the STK11/LKB1-induced cell growth suppression activity. Negative regulator of amino acid starvation-induced autophagy.',NULL,NULL,NULL,NULL,NULL),(12170,'UniProt Function',NULL,14622,NULL,'Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane.',NULL,NULL,NULL,NULL,NULL),(12171,'UniProt Function',NULL,14624,NULL,'Required for the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA. In the complex, it is required to stabilize and induce conformational changes of the catalytic subunit.',NULL,NULL,NULL,NULL,NULL),(12172,'UniProt Function',NULL,14625,NULL,'Chemotactic activity for lymphocytes but not for monocytes or neutrophils. In thymus, mediates medullary accumulation of thymic dendritic cells and contributes to regulatoy T cell development, playing a role in self-tolerance establishment.',NULL,NULL,NULL,NULL,NULL),(12173,'UniProt Function',NULL,14626,NULL,'Acts as a ligand for both CX3CR1 and integrins. Binds to CX3CR1 (PubMed:23125415, PubMed:9931005, PubMed:21829356). Binds to integrins ITGAV:ITGB3 and ITGA4:ITGB1. Can activate integrins in both a CX3CR1-dependent and CX3CR1-independent manner. In the presence of CX3CR1, activates integrins by binding to the classical ligand-binding site (site 1) in integrins. In the absence of CX3CR1, binds to a second site (site 2) in integrins which is distinct from site 1 and enhances the binding of other integrin ligands to site 1 (PubMed:23125415, PubMed:24789099). The soluble form is chemotactic for T-cells and monocytes and not for neutrophils. The membrane-bound form promotes adhesion of those leukocytes to endothelial cells. May play a role in regulating leukocyte adhesion and migration processes at the endothelium (PubMed:9024663, PubMed:9177350).',NULL,NULL,NULL,NULL,NULL),(12174,'UniProt Function',NULL,14627,NULL,'Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro).',NULL,NULL,NULL,NULL,NULL),(12175,'UniProt Function',NULL,14628,NULL,'Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-phosphorylation may influence the catalytic activity of B3GAT3 (GlcAT-I) which completes the precursor tetrasaccharide of GAG-protein linkage regions on which the repeating disaccharide region is synthesized.',NULL,NULL,NULL,NULL,NULL),(12176,'UniProt Function',NULL,14629,NULL,'May be involved in the response of cells to X-ray radiation.',NULL,NULL,NULL,NULL,NULL),(12177,'UniProt Function',NULL,14630,NULL,'Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3\'-5\' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step. Required for osteocalcin gene expression. Probably also acts as a 5\'-deoxyribose-5-phosphate lyase (5\'-dRP lyase), by catalyzing the beta-elimination of the 5\' deoxyribose-5-phosphate at an abasic site near double-strand breaks. 5\'-dRP lyase activity allows to \'clean\' the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with APEX1 acts as a negative regulator of transcription. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway.',NULL,NULL,NULL,NULL,NULL),(12178,'UniProt Function',NULL,14632,NULL,'Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus (By similarity).',NULL,NULL,NULL,NULL,NULL),(12179,'UniProt Function',NULL,14633,NULL,'Possesses thioredoxin activity. Has been shown to reduce insulin disulfide bonds. Also complements protein disulfide-isomerase deficiency in yeast (By similarity).',NULL,NULL,NULL,NULL,NULL),(12180,'UniProt Function',NULL,14634,NULL,'Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity).',NULL,NULL,NULL,NULL,NULL),(12181,'UniProt Function',NULL,14635,NULL,'Active thioredoxin with a redox potential of about -250 mV.',NULL,NULL,NULL,NULL,NULL),(12182,'UniProt Function',NULL,14636,NULL,'This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone.',NULL,NULL,NULL,NULL,NULL),(12183,'UniProt Function',NULL,14637,NULL,'Component of a nucleolar small nuclear ribonucleoprotein particle (snoRNP) thought to participate in the processing and modification of pre-ribosomal RNA.',NULL,NULL,NULL,NULL,NULL),(12184,'UniProt Function',NULL,14639,NULL,'Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1606621, PubMed:1447181). Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP (PubMed:1447181). Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites (PubMed:22456334).',NULL,NULL,NULL,NULL,NULL),(12185,'UniProt Function',NULL,14640,NULL,'Catalyzes the covalent attachment of ubiquitin to other proteins (By similarity). Specific substrate for UBA6, not charged with ubiquitin by UBE1. May be involved in apoptosis regulation.',NULL,NULL,NULL,NULL,NULL),(12186,'UniProt Function',NULL,14641,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes \'Lys-48\'-linked polyubiquitination. Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and autoubiquitination of STUB1 and TRAF6. Involved in the signal-induced conjugation and subsequent degradation of NFKBIA, FBXW2-mediated GCM1 ubiquitination and degradation, MDM2-dependent degradation of p53/TP53 and the activation of MAVS in the mitochondria by DDX58/RIG-I in response to viral infection. Essential for viral activation of IRF3.',NULL,NULL,NULL,NULL,NULL),(12187,'UniProt Function',NULL,14642,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro, in the presence or in the absence of BRCA1-BARD1 E3 ubiquitin-protein ligase complex, catalyzes the synthesis of \'Lys-48\'-linked polyubiquitin chains. Does not transfer ubiquitin directly to but elongates monoubiquitinated substrate protein. Mediates the selective degradation of short-lived and abnormal proteins, such as the endoplasmic reticulum-associated degradation (ERAD) of misfolded lumenal proteins. Ubiquitinates huntingtin. May mediate foam cell formation by the suppression of apoptosis of lipid-bearing macrophages through ubiquitination and subsequence degradation of p53/TP53. Proposed to be involved in ubiquitination and proteolytic processing of NF-kappa-B; in vitro supports ubiquitination of NFKB1. In case of infection by cytomegaloviruses may be involved in the US11-dependent degradation of MHC class I heavy chains following their export from the ER to the cytosol. In case of viral infections may be involved in the HPV E7 protein-dependent degradation of RB1.',NULL,NULL,NULL,NULL,NULL),(12188,'UniProt Function',NULL,14643,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes \'Lys-48\'-linked polyubiquitination (PubMed:22496338). Cooperates with the E2 UBCH5C and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Performs ubiquitin chain elongation building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. UBE2D3 acts as an initiator E2, priming the phosphorylated NFKBIA target at positions \'Lys-21\' and/or \'Lys-22\' with a monoubiquitin. Cooperates with the SCF(SKP2) E3 ligase complex to regulate cell proliferation through ubiquitination and degradation of MYBL2 and KIP1. Involved in ubiquitin conjugation and degradation of CREM isoform ICERIIgamma and ATF15 resulting in abrogation of ICERIIgamma- and ATF5-mediated repression of cAMP-induced transcription during both meiotic and mitotic cell cycles. Involved in the regulation of the cell cycle G2/M phase through its targeting of the WEE1 kinase for ubiquitination and degradation. Also involved in the degradation of beta-catenin. Is target of human herpes virus 1 protein ICP0, leading to ICP0-dependent dynamic interaction with proteasomes (PubMed:10329681, PubMed:10373550, PubMed:10871850, PubMed:11675391, PubMed:12037680, PubMed:15652359, PubMed:17461777, PubMed:17698585, PubMed:19112177, PubMed:19126550, PubMed:19945379, PubMed:20061386, PubMed:20347421).',NULL,NULL,NULL,NULL,NULL),(12189,'UniProt Function',NULL,14644,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes monoubiquitination and \'Lys-48\'-linked polyubiquitination. May be involved in degradation of katenin.',NULL,NULL,NULL,NULL,NULL),(12190,'UniProt Function',NULL,14645,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:20061386, PubMed:21229326). Specifically monoubiquitinates the N-terminus of various substrates, including ATXN3, MAPT/TAU, POLR2H/RPB8 and STUB1/CHIP, by recognizing backbone atoms of disordered N-termini (PubMed:23560854, PubMed:23696636, PubMed:25436519). Involved in degradation of misfolded chaperone substrates by mediating monoubiquitination of STUB1/CHIP, leading to recruitment of ATXN3 to monoubiquitinated STUB1/CHIP, and restriction of the length of ubiquitin chain attached to STUB1/CHIP substrates by ATXN3. After UV irradiation, but not after mitomycin-C (MMC) treatment, acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway (PubMed:19111657, PubMed:21229326). In vitro catalyzes \'Lys-11\'-linked polyubiquitination. UBE2W-catalyzed ubiquitination occurs also in the presence of inactive RING/U-box type E3s, i.e. lacking the active site cysteine residues to form thioester bonds with ubiquitin, or even in the absence of E3, albeit at a slower rate (PubMed:25436519).',NULL,NULL,NULL,NULL,NULL),(12191,'UniProt Function',NULL,14651,NULL,'Involved in the maintenance of the Golgi structure.',NULL,NULL,NULL,NULL,NULL),(12192,'UniProt Function',NULL,14654,NULL,'May be required for stable YIPF1 and YIPF2 protein expression.',NULL,NULL,NULL,NULL,NULL),(12193,'UniProt Function',NULL,14656,NULL,'Plays a role in the reduction of telomerase activity during differentiation of embryonic stem cells by binding to the core promoter of TERT and controlling its down-regulation.',NULL,NULL,NULL,NULL,NULL),(12194,'UniProt Function',NULL,14657,NULL,'ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region (PubMed:26923599, PubMed:27786171). Plays an important role in regulating mitochondrial morphology and function by cleaving OPA1 at position S2, giving rise to a form of OPA1 that promotes maintenance of normal mitochondrial structure and mitochondrial protein metabolism (PubMed:18076378, PubMed:26923599, PubMed:27495975). Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects mitochondria from the accumulation of oxidatively damaged membrane proteins (PubMed:22262461). Required for normal, constitutive degradation of PRELID1 (PubMed:27495975). Catalyzes the degradation of OMA1 in response to membrane depolarization (PubMed:26923599). Required to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1) (PubMed:22262461).',NULL,NULL,NULL,NULL,NULL),(12195,'UniProt Function',NULL,14661,NULL,'May play a role in spermiogenesis and oogenesis.',NULL,NULL,NULL,NULL,NULL),(12196,'UniProt Function',NULL,14671,NULL,'Plays a role in transport between endoplasmic reticulum and Golgi.',NULL,NULL,NULL,NULL,NULL),(12197,'UniProt Function',NULL,14684,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12198,'UniProt Function',NULL,14685,NULL,'Antiviral protein which inhibits the replication of viruses by recruiting the cellular RNA degradation machineries to degrade the viral mRNAs. Binds to a ZAP-responsive element (ZRE) present in the target viral mRNA, recruits cellular poly(A)-specific ribonuclease PARN to remove the poly(A) tail, and the 3\'-5\' exoribonuclease complex exosome to degrade the RNA body from the 3\'-end. It also recruits the decapping complex DCP1-DCP2 through RNA helicase p72 (DDX17) to remove the cap structure of the viral mRNA to initiate its degradation from the 5\'-end. Its target viruses belong to families which include retroviridae: human immunodeficiency virus type 1 (HIV-1), moloney and murine leukemia virus (MoMLV) and xenotropic MuLV-related virus (XMRV), filoviridae: ebola virus (EBOV) and marburg virus (MARV), togaviridae: sindbis virus (SINV) and Ross river virus (RRV). Specifically targets the multiply spliced but not unspliced or singly spliced HIV-1 mRNAs for degradation. Isoform 1 is a more potent viral inhibitor than isoform 2. Isoform 2 acts as a positive regulator of DDX58/RIG-I signaling resulting in activation of the downstream effector IRF3 leading to the expression of type I IFNs and IFN stimulated genes (ISGs).',NULL,NULL,NULL,NULL,NULL),(12199,'UniProt Function',NULL,14686,NULL,'Involved in protein degradation via the ubiquitin-proteasome system. May act by anchoring ubiquitinated proteins to the proteasome. Plays a role in ubiquitin-mediated protein degradation during muscle atrophy. Plays a role in the regulation of NF-kappa-B activation and apoptosis. Inhibits NF-kappa-B activation triggered by overexpression of RIPK1 and TRAF6 but not of RELA. Inhibits also tumor necrosis factor (TNF), IL-1 and TLR4-induced NF-kappa-B activation in a dose-dependent manner. Overexpression sensitizes cells to TNF-induced apoptosis. Is a potent inhibitory factor for osteoclast differentiation.',NULL,NULL,NULL,NULL,NULL),(12200,'UniProt Function',NULL,14687,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12201,'UniProt Function',NULL,14688,NULL,'Transcription factor that can function as an activator or repressor depending on its binding partners, and by targeting negative regulators of cell cycle progression. Plays a critical role in early lymphocyte development, where it is essential to prevent apoptosis in lymphoid precursors, allowing them to survive in response to IL7 and undergo proper lineage commitment. Has been shown to bind to the promoters of adenovirus major late protein and cyclin D1 and activate transcription. Required for early embryonic development during gastrulation. Represses RB1 transcription; this repression can be blocked by interaction with ZBTB49 isoform 3/ZNF509S1 (PubMed:25245946).',NULL,NULL,NULL,NULL,NULL),(12202,'UniProt Function',NULL,14690,NULL,'Function as a transcriptional repressor for PRDM1.',NULL,NULL,NULL,NULL,NULL),(12203,'UniProt Function',NULL,14692,NULL,'May play a role in differentiating skeletal muscle.',NULL,NULL,NULL,NULL,NULL),(12204,'UniProt Function',NULL,14693,NULL,'Transcriptional activator. Activates the gene for selenocysteine tRNA (tRNAsec). Binds to the SPH motif of small nuclear RNA (snRNA) gene promoters. Participates in efficient U6 RNA polymerase III transcription via its interaction with CHD8.',NULL,NULL,NULL,NULL,NULL),(12205,'UniProt Function',NULL,14694,NULL,'May be involved in the transcriptional activation of MDM2 and EP300 genes.',NULL,NULL,NULL,NULL,NULL),(12206,'UniProt Function',NULL,14696,NULL,'Involved in histone 3\'-end pre-mRNA processing by associating with U7 snRNP and interacting with SLBP/pre-mRNA complex. Increases histone 3\'-end pre-mRNA processing but has no effect on U7 snRNP levels, when overexpressed. Required for cell cycle progression from G1 to S phases.',NULL,NULL,NULL,NULL,NULL),(12207,'UniProt Function',NULL,14697,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12208,'UniProt Function',NULL,14698,NULL,'May function as a transcription factor.',NULL,NULL,NULL,NULL,NULL),(12209,'UniProt Function',NULL,14699,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12210,'UniProt Function',NULL,14700,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12211,'UniProt Function',NULL,14701,NULL,'Involved in the regulation of endothelial cell proliferation and migration. Mediates H(2)O(2)-induced leukocyte chemotaxis by elevating interleukin-8 production and may play a role in inflammation. May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12212,'UniProt Function',NULL,14702,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12213,'UniProt Function',NULL,14703,NULL,'Putative glycosyltransferase.',NULL,NULL,NULL,NULL,NULL),(12214,'UniProt Function',NULL,14704,NULL,'Involved in the maintenance of the Golgi structure. May play a role in hematopoiesis.',NULL,NULL,NULL,NULL,NULL),(12215,'UniProt Function',NULL,14708,NULL,'May function as a transcription factor.',NULL,NULL,NULL,NULL,NULL),(12216,'UniProt Function',NULL,14710,NULL,'May be involved in transcriptional regulation (Probable). In the central nervous system, may play a role in glial cell differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(12217,'UniProt Function',NULL,14711,NULL,'May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes.',NULL,NULL,NULL,NULL,NULL),(12218,'UniProt Function',NULL,14713,NULL,'Transcription factor that represses the transcription of a wide range of genes involved in cell proliferation and differentiation (PubMed:14701838, PubMed:17595526, PubMed:20812024, PubMed:25514493, PubMed:26455326, PubMed:26816381). Directly and specifically binds to the consensus sequence 5\'-[GA][CA]GACCCCCCCCC-3\' and represses transcription both by regulating the organization of chromatin and through the direct recruitment of transcription factors to gene regulatory regions (PubMed:12004059, PubMed:17595526, PubMed:20812024, PubMed:25514493, PubMed:26816381). Negatively regulates SMAD4 transcriptional activity in the TGF-beta signaling pathway through these two mechanisms (PubMed:25514493). That is, recruits the chromatin regulator HDAC1 to the SMAD4-DNA complex and in parallel prevents the recruitment of the transcriptional activators CREBBP and EP300 (PubMed:25514493). Collaborates with transcription factors like RELA to modify the accessibility of gene transcription regulatory regions to secondary transcription factors (By similarity). Also directly interacts with transcription factors like SP1 to prevent their binding to DNA (PubMed:12004059). Functions as an androgen receptor/AR transcriptional corepressor by recruiting NCOR1 and NCOR2 to the androgen response elements/ARE on target genes (PubMed:20812024). Thereby, negatively regulates androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Involved in the switch between fetal and adult globin expression during erythroid cells maturation (PubMed:26816381). Through its interaction with the NuRD complex regulates chromatin at the fetal globin genes to repress their transcription (PubMed:26816381). Specifically represses the transcription of the tumor suppressor ARF isoform from the CDKN2A gene (By similarity). Efficiently abrogates E2F1-dependent CDKN2A transactivation (By similarity). Regulates chondrogenesis through the transcriptional repression of specific genes via a mechanism that also requires histone deacetylation (By similarity). Regulates cell proliferation through the transcriptional regulation of genes involved in glycolysis (PubMed:26455326). Involved in adipogenesis through the regulation of genes involved in adipocyte differentiation (PubMed:14701838). Plays a key role in the differentiation of lymphoid progenitors into B and T lineages (By similarity). Promotes differentiation towards the B lineage by inhibiting the T-cell instructive Notch signaling pathway through the specific transcriptional repression of Notch downstream target genes (By similarity). Also regulates osteoclast differentiation (By similarity). May also play a role, independently of its transcriptional activity, in double-strand break repair via classical non-homologous end joining/cNHEJ (By similarity). Recruited to double-strand break sites on damage DNA, interacts with the DNA-dependent protein kinase complex and directly regulates its stability and activity in DNA repair (By similarity). May also modulate the splicing activity of KHDRBS1 toward BCL2L1 in a mechanism which is histone deacetylase-dependent and thereby negatively regulates the pro-apoptotic effect of KHDRBS1 (PubMed:24514149).',NULL,NULL,NULL,NULL,NULL),(12219,'UniProt Function',NULL,14715,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12220,'UniProt Function',NULL,14718,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12221,'UniProt Function',NULL,14719,NULL,'Transcriptional activator. Isoform 1 may be involved in transcriptional activation of erythroid genes.',NULL,NULL,NULL,NULL,NULL),(12222,'UniProt Function',NULL,14720,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12223,'UniProt Function',NULL,14721,NULL,'Transcriptional repressor. Regulator of transcriptional factor complexes and may suppress SRE and AP-1 transcription activities mediated by growth factor signaling pathways.',NULL,NULL,NULL,NULL,NULL),(12224,'UniProt Function',NULL,14722,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12225,'UniProt Function',NULL,14723,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12226,'UniProt Function',NULL,14724,NULL,'Transcriptional repressor. May repress NR5A1, PPARG, NR1H3, NR4A2, ESR1 and NR3C1 transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(12227,'UniProt Function',NULL,14725,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12228,'UniProt Function',NULL,14726,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12229,'UniProt Function',NULL,14730,NULL,'Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs and promotes RNA translation efficiency (PubMed:28106072, PubMed:28106076, PubMed:28281539). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability (PubMed:22575960, PubMed:24284625, PubMed:28106072, PubMed:28106076, PubMed:28281539). Shares m6A-containing mRNAs targets with YTHDF1 and YTHDF2, and regulates different processes depending on the context (PubMed:28106072, PubMed:28106076). Facilitates the translation of targeted mRNAs in cooperation with YTHDF1 by binding to m6A-containing mRNAs and interacting with 40S and 60S ribosome subunits (PubMed:28106072, PubMed:28106076). Can also act as a regulator of mRNA stability in cooperation with YTHDF2 by binding to m6A-containing mRNA and promoting their degradation (PubMed:28106072). Recognizes and binds m6A-containing circular RNAs (circRNAs) and promotes their translation (PubMed:28281539). circRNAs are generated through back-splicing of pre-mRNAs, a non-canonical splicing process promoted by dsRNA structures across circularizing exons (PubMed:28281539).',NULL,NULL,NULL,NULL,NULL),(12230,'UniProt Function',NULL,14731,NULL,'May function as a transcription factor.',NULL,NULL,NULL,NULL,NULL),(12231,'UniProt Function',NULL,14732,NULL,'Acts as a transcription repressor.',NULL,NULL,NULL,NULL,NULL),(12232,'UniProt Function',NULL,14734,NULL,'Transcriptional repressor with bimodal DNA-binding specificity. Represses transcription in a methyl-CpG-dependent manner. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5\'-CGCG-3\' but can also bind to the non-methylated consensus sequence 5\'-CTGCNA-3\' also known as the consensus kaiso binding site (KBS). Can also bind specifically to a single methyl-CpG pair and can bind hemimethylated DNA but with a lower affinity compared to methylated DNA (PubMed:16354688). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity).',NULL,NULL,NULL,NULL,NULL),(12233,'UniProt Function',NULL,14735,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12234,'UniProt Function',NULL,14736,NULL,'Transcriptional repressor which binds to the consensus sequence 5\'-GCTCGC-3\' and represses transcription of IGF2. May also regulate expression of other target genes containing this consensus binding site (By similarity).',NULL,NULL,NULL,NULL,NULL),(12235,'UniProt Function',NULL,14738,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12236,'UniProt Function',NULL,14739,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12237,'UniProt Function',NULL,14740,NULL,'Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5\'-GGGTGGTC-3\'.',NULL,NULL,NULL,NULL,NULL),(12238,'UniProt Function',NULL,14741,NULL,'Transcriptional inhibitor that binds to DNA sequence 5\'-CACCT-3\' in different promoters. Represses transcription of E-cadherin.',NULL,NULL,NULL,NULL,NULL),(12239,'UniProt Function',NULL,14743,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12240,'UniProt Function',NULL,14744,NULL,'Putative transcription factor that appears to regulate lipid metabolism.',NULL,NULL,NULL,NULL,NULL),(12241,'UniProt Function',NULL,14745,NULL,'Key regulator of RAB11-dependent vesicular trafficking during neurite extension through polarized membrane transport (PubMed:17082457). Promotes axonal elongation and contributes to the establishment of neuronal cell polarity (By similarity). Involved in nerve growth factor-induced neurite formation in VAPA-dependent manner (PubMed:19289470). Contributes to both the formation and stabilization of the tubular ER network (PubMed:24668814). Involved in ER morphogenesis by regulating the sheet-to-tubule balance and possibly the density of tubule interconnections (PubMed:23969831). Acts as an adapter protein and facilitates the interaction of KIF5A with VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 and the ZFYVE27-KIF5A complex contributes to the transport of these proteins in neurons. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a KIF5A/B-dependent manner (PubMed:21976701).',NULL,NULL,NULL,NULL,NULL),(12242,'UniProt Function',NULL,14746,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12243,'UniProt Function',NULL,14747,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12244,'UniProt Function',NULL,14748,NULL,'May be involved in transcriptional regulation as a transcriptional repressor. The DEPDC1A-ZNF224 complex may play a critical role in bladder carcinogenesis by repressing the transcription of the A20 gene, leading to transport of NF-KB protein into the nucleus, resulting in suppression of apoptosis of bladder cancer cells.',NULL,NULL,NULL,NULL,NULL),(12245,'UniProt Function',NULL,14749,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12246,'UniProt Function',NULL,14751,NULL,'Specific regulator of miRNA biogenesis. Binds, via the C3H1-type zinc finger domains, to the binding motif 5\'-GCAGCGC-3\' on microRNA pri-MIR143 and negatively regulates the processing to mature microRNA.',NULL,NULL,NULL,NULL,NULL),(12247,'UniProt Function',NULL,14752,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12248,'UniProt Function',NULL,14753,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12249,'UniProt Function',NULL,14754,NULL,'Transcriptional repressor. Binds to a specific sequence, 5\'-GGGxxxCAGxxxTTT-3\', within GADD45 intron 3.',NULL,NULL,NULL,NULL,NULL),(12250,'UniProt Function',NULL,14755,NULL,'Acts as a bona fide target gene of p53/TP53. May play a role in the TP53-dependent growth regulatory pathway. May contribute to TP53-mediated apoptosis by regulation of TP53 expression and translocation to the nucleus and nucleolus.',NULL,NULL,NULL,NULL,NULL),(12251,'UniProt Function',NULL,14756,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12252,'UniProt Function',NULL,14758,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12253,'UniProt Function',NULL,14759,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12254,'UniProt Function',NULL,14760,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12255,'UniProt Function',NULL,14761,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12256,'UniProt Function',NULL,14762,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12257,'UniProt Function',NULL,14763,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12258,'UniProt Function',NULL,14765,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12259,'UniProt Function',NULL,14766,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12260,'UniProt Function',NULL,14767,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12261,'UniProt Function',NULL,14768,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12262,'UniProt Function',NULL,14769,NULL,'Plays a pivotal role in manganese transport. Manganese is an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. However, elevated levels of manganese are cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis. Acts as manganese efflux transporter and confers protection against manganese-induced cell death (PubMed:22341972, PubMed:22341971, PubMed:25319704, PubMed:27226609, PubMed:27307044). Also acts as zinc transporter involved in zinc homeostasis. Seems to mediate zinc transport into early endosomes and recycling endosomes to prevent zinc toxicity; the function may be regulated by heterodimerization with other zinc transporters of the SLC30A subfamily. The SLC30A3:SLC30A10 heterodimer is involved in zinc transport-dependent regulation of the EGFR/ERK transduction pathway in endosomes. May be involved in regulation of zinc-dependent senescence of vascular smooth muscle cells (PubMed:22706290, PubMed:22427991, PubMed:26728129).',NULL,NULL,NULL,NULL,NULL),(12263,'UniProt Function',NULL,14774,NULL,'Involved in proliferation and apoptosis in myeloid precursor cells.',NULL,NULL,NULL,NULL,NULL),(12264,'UniProt Function',NULL,14780,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12265,'UniProt Function',NULL,14781,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12266,'UniProt Function',NULL,14782,NULL,'Plays a role in interneurons differentiation (PubMed:26056227). Involved in neuronal development and in neuromuscular junction formation.',NULL,NULL,NULL,NULL,NULL),(12267,'UniProt Function',NULL,14783,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12268,'UniProt Function',NULL,14786,NULL,'Probable transcriptional activator.',NULL,NULL,NULL,NULL,NULL),(12269,'UniProt Function',NULL,14787,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12270,'UniProt Function',NULL,14788,NULL,'May be involved in transcriptional regulation as a repressor.',NULL,NULL,NULL,NULL,NULL),(12271,'UniProt Function',NULL,14789,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12272,'UniProt Function',NULL,14790,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12273,'UniProt Function',NULL,14791,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12274,'UniProt Function',NULL,14792,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12275,'UniProt Function',NULL,14793,NULL,'Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication (PubMed:27939641). Enhances transcription activation by YY1 (PubMed:14744866). Plays a role in cell cycle regulation (PubMed:17541814, PubMed:27939641).',NULL,NULL,NULL,NULL,NULL),(12276,'UniProt Function',NULL,14794,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12277,'UniProt Function',NULL,14795,NULL,'Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.',NULL,NULL,NULL,NULL,NULL),(12278,'UniProt Function',NULL,14796,NULL,'Involved in postimplantation and gastrulation stages of development. Involved in the nucleocytoplasmic shuttling of STAU2. Binds to DNA and RNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(12279,'UniProt Function',NULL,14797,NULL,'May be involved in transcriptional regulation as a repressor.',NULL,NULL,NULL,NULL,NULL),(12280,'UniProt Function',NULL,14798,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12281,'UniProt Function',NULL,14799,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12282,'UniProt Function',NULL,14800,NULL,'Palmitoyltransferase that mediates palmitoylation of KCNMA1, regulating localization of KCNMA1 to the plasma membrane (PubMed:22399288). Might also mediate palmitoylation of NOV/CNN3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(12283,'UniProt Function',NULL,14801,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12284,'UniProt Function',NULL,14802,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12285,'UniProt Function',NULL,14803,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12286,'UniProt Function',NULL,14804,NULL,'May be a tumor suppressor gene.',NULL,NULL,NULL,NULL,NULL),(12287,'UniProt Function',NULL,14805,NULL,'Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm. Binds to the minimal GLI-consensus sequence 5\'-TGGGTGGTC-3\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(12288,'UniProt Function',NULL,14806,NULL,'Probable transcriptional activator. Binds to the consensus sequence 5\'-AGGCCY-3\'.',NULL,NULL,NULL,NULL,NULL),(12289,'UniProt Function',NULL,14807,NULL,'Involved in transcriptional regulation as an activator.',NULL,NULL,NULL,NULL,NULL),(12290,'UniProt Function',NULL,14808,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12291,'UniProt Function',NULL,14809,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12292,'UniProt Function',NULL,14810,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12293,'UniProt Function',NULL,14811,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12294,'UniProt Function',NULL,14812,NULL,'Acts as a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(12295,'UniProt Function',NULL,14813,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12296,'UniProt Function',NULL,14814,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12297,'UniProt Function',NULL,14815,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12298,'UniProt Function',NULL,14816,NULL,'May be involved in the regulation of cellular proliferation and/or differentiation.',NULL,NULL,NULL,NULL,NULL),(12299,'UniProt Function',NULL,14817,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12300,'UniProt Function',NULL,14818,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12301,'UniProt Function',NULL,14819,NULL,'Has transcriptional repression activity. Acts as corepressor of ESR1; the function seems to involve CTBP1 and histone deacetylases.',NULL,NULL,NULL,NULL,NULL),(12302,'UniProt Function',NULL,14820,NULL,'Transcription regulator required for brain development. Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activate expression of genes involved in neuron development, such as KDM5C.',NULL,NULL,NULL,NULL,NULL),(12303,'UniProt Function',NULL,14821,NULL,'Transcriptional repressor that plays a role in cell proliferation. Requires TRIM28 for its activity.',NULL,NULL,NULL,NULL,NULL),(12304,'UniProt Function',NULL,14822,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12305,'UniProt Function',NULL,14823,NULL,'Kinetochore- and microtubule-binding protein that plays a key role in spindle assembly (PubMed:24462186, PubMed:24462187, PubMed:26388440). ZNF207/BuGZ is mainly composed of disordered low-complexity regions and undergoes phase transition or coacervation to form temperature-dependent liquid droplets. Coacervation promotes microtubule bundling and concentrates tubulin, promoting microtubule polymerization and assembly of spindle and spindle matrix by concentrating its building blocks (PubMed:26388440). Also acts as a regulator of mitotic chromosome alignment by mediating the stability and kinetochore loading of BUB3 (PubMed:24462186, PubMed:24462187). Mechanisms by which BUB3 is protected are unclear: according to a first report, ZNF207/BuGZ may act by blocking ubiquitination and proteasomal degradation of BUB3 (PubMed:24462186). According to another report, the stabilization is independent of the proteasome (PubMed:24462187).',NULL,NULL,NULL,NULL,NULL),(12306,'UniProt Function',NULL,14824,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12307,'UniProt Function',NULL,14825,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12308,'UniProt Function',NULL,14826,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12309,'UniProt Function',NULL,14827,NULL,'May be involved in transcriptional regulation. May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(12310,'UniProt Function',NULL,14828,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12311,'UniProt Function',NULL,14829,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12312,'UniProt Function',NULL,14830,NULL,'May function as a transcription factor.',NULL,NULL,NULL,NULL,NULL),(12313,'UniProt Function',NULL,14831,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12314,'UniProt Function',NULL,14832,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12315,'UniProt Function',NULL,14834,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12316,'UniProt Function',NULL,14835,NULL,'DNA annealing helicase and endonuclease required to maintain genome stability at stalled or collapsed replication forks by facilitating fork restart and limiting inappropriate recombination that could occur during template switching events (PubMed:21078962, PubMed:22704558, PubMed:22705370, PubMed:22759634, PubMed:26884333). Recruited to the sites of stalled DNA replication by polyubiquitinated PCNA and acts as a structure-specific endonuclease that cleaves the replication fork D-loop intermediate, generating an accessible 3\'-OH group in the template of the leading strand, which is amenable to extension by DNA polymerase (PubMed:22759634). In addition to endonuclease activity, also catalyzes the fork regression via annealing helicase activity in order to prevent disintegration of the replication fork and the formation of double-strand breaks (PubMed:22705370, PubMed:22704558).',NULL,NULL,NULL,NULL,NULL),(12317,'UniProt Function',NULL,14836,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12318,'UniProt Function',NULL,14838,NULL,'Embryonic stem (ES) cell-specific transcription factor required to maintain ES cell pluripotency. Can both activate and /or repress expression of target genes, depending on the context. Specifically binds the 5\'-[GA]CGCNNGCG[CT]-3\' DNA consensus sequence. Regulates expression of POU5F1/OCT4, ZSCAN4 and ALYREF/THOC4.',NULL,NULL,NULL,NULL,NULL),(12319,'UniProt Function',NULL,14839,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12320,'UniProt Function',NULL,14840,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12321,'UniProt Function',NULL,14841,NULL,'Isoform 1 and isoform 2 act as DNA-dependent transcriptional repressors.',NULL,NULL,NULL,NULL,NULL),(12322,'UniProt Function',NULL,14842,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12323,'UniProt Function',NULL,14843,NULL,'Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes.',NULL,NULL,NULL,NULL,NULL),(12324,'UniProt Function',NULL,14844,NULL,'Functions as a zinc transporter. May be a transporter of zinc into beta cells in order to form insulin crystals. Partly regulates cellular zinc homeostasis. Required with ZNT7 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT6 and ZNT7 for the activation of TNAP.',NULL,NULL,NULL,NULL,NULL),(12325,'UniProt Function',NULL,14845,NULL,'Adhesion plaque protein. Binds alpha-actinin and the CRP protein. Important for targeting TES and ENA/VASP family members to focal adhesions and for the formation of actin-rich structures. May be a component of a signal transduction pathway that mediates adhesion-stimulated changes in gene expression (By similarity).',NULL,NULL,NULL,NULL,NULL),(12326,'UniProt Function',NULL,14846,NULL,'RNA-binding protein that affects the localization and the translation of a subset of mRNA. May play a role in adipogenesis through binding to the 3\'-UTR of CEBPA mRNA and regulation of its translation. Targets ITPR1 mRNA to dendrites in Purkinje cells, and may regulate its activity-dependent translation. With ELAVL1, binds the 3\'-UTR of p53/TP53 mRNAs to control their nuclear export induced by CDKN2A. Hence, may regulate p53/TP53 expression and mediate in part the CDKN2A anti-proliferative activity. May also bind CCNB1 mRNA. Alternatively, may also regulate p53/TP53 activity through direct protein-protein interaction. Interacts with p53/TP53 and promotes cell-cycle arrest over apoptosis enhancing preferentially the DNA binding and transactivation of p53/TP53 on cell-cycle arrest target genes over proapoptotic target genes. May also regulate the ubiquitination and stability of CDKN1A promoting DNA damage-induced cell cycle arrest. Also plays a role in megakaryocytes differentiation.',NULL,NULL,NULL,NULL,NULL),(12327,'UniProt Function',NULL,14847,NULL,'Palmitoyl acyltransferase that mediates palmitoylation of proteins such as PLN and ZDHHC6 (PubMed:28826475). Required during embryonic heart development and cardiac function, possibly by mediating palmitoylation of PLN, thereby affecting PLN phosphorylation and homooligomerization (By similarity). Also required for eye development (By similarity). Palmitoylates ZDHHC6, affecting the quaternary assembly of ZDHHC6, its localization, stability and function (PubMed:28826475). May play a role in DNA damage response (By similarity). May be involved in apoptosis regulation (By similarity). Involved in the proliferation of neural stem cells by regulating the FGF/ERK pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(12328,'UniProt Function',NULL,14849,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12329,'UniProt Function',NULL,14850,NULL,'Plays a role in the regulation of cytoplasmic stress granules (SGs) turnover. SGs are dynamic and transient cytoplasmic ribonucleoprotein assemblies important for cellular protein homeostasis when protein production is suspended after acute exogenous stress (PubMed:29804830). Associates with SGs and is involved in the efficient and specific arsenite-induced clearance process of SGs through the recruitment of the ubiquitin-selective ATPase VCP and the 26S proteasome (PubMed:29804830). This process requires both complexes for efficient degradation of damaged ubiquitinated SG proteins during recovery from arsenite stress, and hence avoiding aberrant cytoplasmic SGs degradation via autophagy (PubMed:29804830).',NULL,NULL,NULL,NULL,NULL),(12330,'UniProt Function',NULL,14852,NULL,'Endoribonuclease involved in various biological functions such as cellular inflammatory response and immune homeostasis, glial differentiation of neuroprogenitor cells, cell death of cardiomyocytes, adipogenesis and angiogenesis. Functions as an endoribonuclease involved in mRNA decay (PubMed:19909337). Modulates the inflammatory response by promoting the degradation of a set of translationally active cytokine-induced inflammation-related mRNAs, such as IL6 and IL12B, during the early phase of inflammation (PubMed:26320658). Prevents aberrant T-cell-mediated immune reaction by degradation of multiple mRNAs controlling T-cell activation, such as those encoding cytokines (IL6 and IL2), cell surface receptors (ICOS, TNFRSF4 and TNFR2) and transcription factor (REL) (By similarity). Inhibits cooperatively with ZC3H12A the differentiation of helper T cells Th17 in lungs. They repress target mRNA encoding the Th17 cell-promoting factors IL6, ICOS, REL, IRF4, NFKBID and NFKBIZ. The cooperation requires RNA-binding by RC3H1 and the nuclease activity of ZC3H12A (By similarity). Self regulates by destabilizing its own mRNA (By similarity). Cleaves mRNA harboring a stem-loop (SL), often located in their 3\'-UTRs, during the early phase of inflammation in a helicase UPF1-dependent manner (PubMed:19909337, PubMed:26320658, PubMed:26134560, PubMed:22561375). Plays a role in the inhibition of microRNAs (miRNAs) biogenesis (PubMed:22055188). Cleaves the terminal loop of a set of precursor miRNAs (pre-miRNAs) important for the regulation of the inflammatory response leading to their degradation, and thus preventing the biosynthesis of mature miRNAs (PubMed:22055188). Plays also a role in promoting angiogenesis in response to inflammatory cytokines by inhibiting the production of antiangiogenic microRNAs via its anti-dicer RNase activity (PubMed:24048733). Affects the overall ubiquitination of cellular proteins (By similarity). Positively regulates deubiquitinase activity promoting the cleavage at \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains on TNF receptor-associated factors (TRAFs), preventing JNK and NF-kappa-B signaling pathway activation, and hence negatively regulating macrophage-mediated inflammatory response and immune homeostasis (By similarity). Induces also deubiquitination of the transcription factor HIF1A, probably leading to its stabilization and nuclear import, thereby positively regulating the expression of proangiogenic HIF1A-targeted genes (PubMed:24048733). Involved in a TANK-dependent negative feedback response to attenuate NF-kappaB activation through the deubiquitination of IKBKG or TRAF6 in response to interleukin-1-beta (IL1B) stimulation or upon DNA damage (PubMed:25861989). Prevents stress granule (SGs) formation and promotes macrophage apoptosis under stress conditions, including arsenite-induced oxidative stress, heat shock and energy deprivation (By similarity). Plays a role in the regulation of macrophage polarization; promotes IL4-induced polarization of macrophages M1 into anti-inflammatory M2 state (By similarity). May also act as a transcription factor that regulates the expression of multiple genes involved in inflammatory response, angiogenesis, adipogenesis and apoptosis (PubMed:16574901, PubMed:18364357). Functions as a positive regulator of glial differentiation of neuroprogenitor cells through an amyloid precursor protein (APP)-dependent signaling pathway (PubMed:19185603). Attenuates septic myocardial contractile dysfunction in response to lipopolysaccharide (LPS) by reducing I-kappa-B-kinase (IKK)-mediated NF-kappa-B activation, and hence myocardial proinflammatory cytokine production (By similarity).',NULL,NULL,NULL,NULL,NULL),(12331,'UniProt Function',NULL,14852,NULL,'(Microbial infection) Binds to Japanese encephalitis virus (JEV) and Dengue virus (DEN) RNAs.',NULL,NULL,NULL,NULL,NULL),(12332,'UniProt Function',NULL,14852,NULL,'(Microbial infection) Exhibits antiviral activity against HIV-1 in lymphocytes by decreasing the abundance of HIV-1 viral RNA species.',NULL,NULL,NULL,NULL,NULL),(12333,'UniProt Function',NULL,14854,NULL,'Transcriptional coactivator in the bone morphogenetic protein (BMP)-signaling pathway. It positively modulates BMP signaling by interacting with SMAD1 and associating with CBP in the transcription complex. It contributes to the BMP-induced enhancement of cholinergic-neuron-specific gene expression (By similarity).',NULL,NULL,NULL,NULL,NULL),(12334,'UniProt Function',NULL,14855,NULL,'Palmitoyltransferase with broad specificity (PubMed:22031296, PubMed:28196865). Palmitoylates JAM3 (PubMed:28196865). Palmitoylates SNAP25 and DLG4/PSD95 (By similarity). Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane and their function in rapid intracellular signaling upon binding of sex hormones (PubMed:22031296). May play a role in follicle stimulation hormone (FSH) activation of testicular Sertoli cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(12335,'UniProt Function',NULL,14856,NULL,'May be involved in transcriptional regulation as a weak repressor when alone, or a potent one when fused with a heterologous protein containing a KRAB B-domain.',NULL,NULL,NULL,NULL,NULL),(12336,'UniProt Function',NULL,14857,NULL,'Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription.',NULL,NULL,NULL,NULL,NULL),(12337,'UniProt Function',NULL,14857,NULL,'Isoform 1: Binds CDKN1A promoter and activates its transcription; this activity is further potentiated in the presence of EP300 (synergistic) and ZBTB17/Miz-1 (additive).',NULL,NULL,NULL,NULL,NULL),(12338,'UniProt Function',NULL,14857,NULL,'Isoform 3: Activates RB1 transcription most probably by antagonizing ZBTB17 repression of RB1. Does not bind directly RB1 promoter.',NULL,NULL,NULL,NULL,NULL),(12339,'UniProt Function',NULL,14858,NULL,'May function as RNase and regulate the levels of target RNA species.',NULL,NULL,NULL,NULL,NULL),(12340,'UniProt Function',NULL,14859,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12341,'UniProt Function',NULL,14860,NULL,'Inhibits the transcriptional repressor activity of REST by inhibiting its binding to DNA, thereby derepressing transcription of REST target genes.',NULL,NULL,NULL,NULL,NULL),(12342,'UniProt Function',NULL,14860,NULL,'Isoform 2: Acts as a bridge between FOXP3 and the corepressor TRIM28, and is required for the transcriptional repressor activity of FOXP3 in regulatory T-cells (Treg).',NULL,NULL,NULL,NULL,NULL),(12343,'UniProt Function',NULL,14861,NULL,'Required for the export of polyadenylated mRNAs from the nucleus (PubMed:19364924). Enhances ACVR1B-induced SMAD-dependent transcription. Binds to single-stranded DNA but not to double-stranded DNA in vitro. Involved in RNA cleavage (By similarity).',NULL,NULL,NULL,NULL,NULL),(12344,'UniProt Function',NULL,14862,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12345,'UniProt Function',NULL,14863,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12346,'UniProt Function',NULL,14864,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12347,'UniProt Function',NULL,14865,NULL,'Acts as a transcriptional repressor of the GATA3 promoter. Sequence-specific DNA-binding factor that binds to the 5\'-AGGTCTC-3\' sequence within the negative cis-acting element intronic regulatory region (IRR) of the GATA3 gene (By similarity). Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:23932780). Induces thymocyte apoptosis when overexpressed, which may indicate a role in regulation of thymocyte homeostasis.',NULL,NULL,NULL,NULL,NULL),(12348,'UniProt Function',NULL,14866,NULL,'Early regulator of adipogenesis that works as a transcription cofactor of CEBPs, controlling the expression of PPARG and probably of other proadipogenic genes, such as SREBF1 (By similarity). Binds to cytidine clusters in double-stranded DNA (PubMed:8647861). May also regulate alternative splicing of target genes during adipogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(12349,'UniProt Function',NULL,14867,NULL,'Isoform 2: Acts as a transcriptional corepressor for AR-mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division.',NULL,NULL,NULL,NULL,NULL),(12350,'UniProt Function',NULL,14867,NULL,'Isoform 1: Acts as a transcriptional coactivator for AR-mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division.',NULL,NULL,NULL,NULL,NULL),(12351,'UniProt Function',NULL,14868,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12352,'UniProt Function',NULL,14869,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12353,'UniProt Function',NULL,14871,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12354,'UniProt Function',NULL,14872,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12355,'UniProt Function',NULL,14873,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12356,'UniProt Function',NULL,14874,NULL,'Transcription factor that binds the consensus DNA sequence [GC]AAAAA. Seems to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(12357,'UniProt Function',NULL,14875,NULL,'Isoform 1: Acts as a transcriptional repressor. Inhibits erythroid differentiation and tumor cell proliferation. Plays a role during ovarian cancer development and progression.',NULL,NULL,NULL,NULL,NULL),(12358,'UniProt Function',NULL,14875,NULL,'Isoform 2: Contributes to cervical carcinogenesis in part through the TNF-alpha-induced NF-kappa-B signaling pathway by interacting with the I-kappa-B-kinase (IKK) core complex.',NULL,NULL,NULL,NULL,NULL),(12359,'UniProt Function',NULL,14877,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12360,'UniProt Function',NULL,14878,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12361,'UniProt Function',NULL,14879,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12362,'UniProt Function',NULL,14880,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12363,'UniProt Function',NULL,14881,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12364,'UniProt Function',NULL,14883,NULL,'RNA-binding protein. Specifically binds to 5\'-GGGGCC-3\' sequence repeats in RNA. Essential for maintenance of peripheral motor neuron and skeletal muscle function. Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4. Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism.',NULL,NULL,NULL,NULL,NULL),(12365,'UniProt Function',NULL,14884,NULL,'May play a role in RNA metabolism.',NULL,NULL,NULL,NULL,NULL),(12366,'UniProt Function',NULL,14885,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12367,'UniProt Function',NULL,14886,NULL,'May be involved in zinc transport out of the cell.',NULL,NULL,NULL,NULL,NULL),(12368,'UniProt Function',NULL,14887,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12369,'UniProt Function',NULL,14889,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12370,'UniProt Function',NULL,14890,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12371,'UniProt Function',NULL,14891,NULL,'Function as a transcriptional activator.',NULL,NULL,NULL,NULL,NULL),(12372,'UniProt Function',NULL,14892,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12373,'UniProt Function',NULL,14893,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12374,'UniProt Function',NULL,14894,NULL,'Transcription repressor involved in the exit of embryonic stem cells (ESCs) from self-renewal. Acts by repressing expression of KLF4.',NULL,NULL,NULL,NULL,NULL),(12375,'UniProt Function',NULL,14895,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12376,'UniProt Function',NULL,14896,NULL,'Inhibits activity of the coagulation protease factor Xa in the presence of PROZ, calcium and phospholipids. Also inhibits factor XIa in the absence of cofactors.',NULL,NULL,NULL,NULL,NULL),(12377,'UniProt Function',NULL,14897,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12378,'UniProt Function',NULL,14898,NULL,'Plays a role in tight junctions and adherens junctions.',NULL,NULL,NULL,NULL,NULL),(12379,'UniProt Function',NULL,14899,NULL,'TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton (PubMed:16129888). The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Binds and recruits PATJ to tight junctions where it connects and stabilizes apical and lateral components of tight junctions (PubMed:16129888). Promotes cell-cycle progression through the sequestration of cyclin D1 (CCND1) at tight junctions during mitosis which prevents CCND1 degradation during M-phase and enables S-phase transition (PubMed:21411630). With TJP1 and TJP2, participates to the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus (By similarity). Contrary to TJP2, TJP3 is dispensable for individual viability, embryonic development, epithelial differentiation, and the establishment of TJs, at least in the laboratory environment (By similarity).',NULL,NULL,NULL,NULL,NULL),(12380,'UniProt Function',NULL,14901,NULL,'May regulate the activity of some transporters.',NULL,NULL,NULL,NULL,NULL),(12381,'UniProt Function',NULL,14903,NULL,'Specifically recognizes and binds N6-methyladenosine (m6A)-containing mRNAs, and promotes mRNA translation efficiency (PubMed:24284625, PubMed:26046440, PubMed:26318451). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability (PubMed:24284625). Acts as a regulator of mRNA translation efficiency: promotes ribosome loading to m6A-containing mRNAs and interacts with translation initiation factors eIF3 (EIF3A or EIF3B) to facilitate translation initiation (PubMed:26046440).',NULL,NULL,NULL,NULL,NULL),(12382,'UniProt Function',NULL,14904,NULL,'Binds in a species-specific manner to the zona pellucida of the egg. May be involved in gamete recognition and/or signaling.',NULL,NULL,NULL,NULL,NULL),(12383,'UniProt Function',NULL,14905,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12384,'UniProt Function',NULL,14906,NULL,'May be involved in transcriptional regulation. May have a role in embryonic development.',NULL,NULL,NULL,NULL,NULL),(12385,'UniProt Function',NULL,14907,NULL,'May down-regulate transcription mediated by NF-kappa-B and the serum response element.',NULL,NULL,NULL,NULL,NULL),(12386,'UniProt Function',NULL,14908,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12387,'UniProt Function',NULL,14909,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12388,'UniProt Function',NULL,14910,NULL,'Binds to DNA.',NULL,NULL,NULL,NULL,NULL),(12389,'UniProt Function',NULL,14911,NULL,'A putative DNA-binding regulatory protein associated with meiosis in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(12390,'UniProt Function',NULL,14913,NULL,'Binds to the promoters of target genes and functions as repressor. Promotes cell proliferation and antagonizes cell death. Promotes phosphorylation of AKT1 at \'Ser-473\'.',NULL,NULL,NULL,NULL,NULL),(12391,'UniProt Function',NULL,14915,NULL,'Acts as a transcriptional repressor (PubMed:12741956). Represses the promoter activity of the CDC25C gene stimulated by NFYA (PubMed:12741956). May play a role in retinal development where it regulates the composition of bipolar cell populations, by promoting differentiation of bipolar OFF-type cells (By similarity). In the brain, may promote maintenance and suppress differentiation of neural progenitor cells in the developing cortex (By similarity).',NULL,NULL,NULL,NULL,NULL),(12392,'UniProt Function',NULL,14916,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12393,'UniProt Function',NULL,14917,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12394,'UniProt Function',NULL,14919,NULL,'May be a transcriptional corepressor with KLF4.',NULL,NULL,NULL,NULL,NULL),(12395,'UniProt Function',NULL,14920,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12396,'UniProt Function',NULL,14921,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12397,'UniProt Function',NULL,14922,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12398,'UniProt Function',NULL,14923,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12399,'UniProt Function',NULL,14924,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12400,'UniProt Function',NULL,14925,NULL,'May function as a transcription factor. May play an important role in erythroid maturation and lymphoid proliferation.',NULL,NULL,NULL,NULL,NULL),(12401,'UniProt Function',NULL,14926,NULL,'DNA-binding transcription factor that can both act as an activator and a repressor.',NULL,NULL,NULL,NULL,NULL),(12402,'UniProt Function',NULL,14927,NULL,'Binds DNA and may function as a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(12403,'UniProt Function',NULL,14928,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12404,'UniProt Function',NULL,14929,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12405,'UniProt Function',NULL,14930,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12406,'UniProt Function',NULL,14931,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12407,'UniProt Function',NULL,14932,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12408,'UniProt Function',NULL,14934,NULL,'May function as a transcriptional repressor, suppressing transcriptional activities mediated by MAPK signaling pathways.',NULL,NULL,NULL,NULL,NULL),(12409,'UniProt Function',NULL,14935,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12410,'UniProt Function',NULL,14936,NULL,'The mammalian zona pellucida, which mediates species-specific sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy, is composed of three to four glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP2 may act as a secondary sperm receptor.',NULL,NULL,NULL,NULL,NULL),(12411,'UniProt Function',NULL,14937,NULL,'May play a role in the establishment and maintenance of neuronal transmission and plasticity via its ubiquitin ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates.',NULL,NULL,NULL,NULL,NULL),(12412,'UniProt Function',NULL,14938,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12413,'UniProt Function',NULL,14939,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12414,'UniProt Function',NULL,14940,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12415,'UniProt Function',NULL,14941,NULL,'Transcription factor, which represses ZNF609 transcription.',NULL,NULL,NULL,NULL,NULL),(12416,'UniProt Function',NULL,14942,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12417,'UniProt Function',NULL,14943,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12418,'UniProt Function',NULL,14944,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12419,'UniProt Function',NULL,14945,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12420,'UniProt Function',NULL,14946,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12421,'UniProt Function',NULL,14947,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12422,'UniProt Function',NULL,14948,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12423,'UniProt Function',NULL,14949,NULL,'The mammalian zona pellucida, which mediates species-specific sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy, is composed of three to four glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP4 may act as a sperm receptor.',NULL,NULL,NULL,NULL,NULL),(12424,'UniProt Function',NULL,14950,NULL,'Has transcriptional repression activity, partially through the recruitment of the corepressor TRIM28 but has also repression activity independently of this interaction. Essential during embryonic development, where it acts as direct repressor of a placental-specific transcript of IGF2 in early development and regulates convergent extension movements required for axis elongation and tissue morphogenesis in all germ layers. Also important for normal morphogenesis of extraembryonic tissues including the yolk sac, extraembryonic mesoderm and placenta. May enhance proliferation or maintenance of neural stem cells.',NULL,NULL,NULL,NULL,NULL),(12425,'UniProt Function',NULL,14951,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12426,'UniProt Function',NULL,14952,NULL,'Probably acts as target recruitment subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC.',NULL,NULL,NULL,NULL,NULL),(12427,'UniProt Function',NULL,14953,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12428,'UniProt Function',NULL,14957,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12429,'UniProt Function',NULL,14958,NULL,'May function as a transcription repressor. Binds to 5\'-CCACA-3\' core sequence. Suppresses osteogenic effects of RUNX2. May be involved in osteoblastic differentiation (By similarity). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity).',NULL,NULL,NULL,NULL,NULL),(12430,'UniProt Function',NULL,14959,NULL,'May be involved in BMP2-induced transcription.',NULL,NULL,NULL,NULL,NULL),(12431,'UniProt Function',NULL,14960,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12432,'UniProt Function',NULL,14961,NULL,'Scaffolding subunit of the trimeric nuclear exosome targeting (NEXT) complex, a complex that directs a subset of non-coding short-lived RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484). May be involved in pre-mRNA splicing (Probable).',NULL,NULL,NULL,NULL,NULL),(12433,'UniProt Function',NULL,14962,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12434,'UniProt Function',NULL,14963,NULL,'Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5\'-CANNTG-3\'). Promotes tumorigenicity by repressing stemness-inhibiting microRNAs.',NULL,NULL,NULL,NULL,NULL),(12435,'UniProt Function',NULL,14966,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12436,'UniProt Function',NULL,14967,NULL,'May function as RNase and regulate the levels of target RNA species.',NULL,NULL,NULL,NULL,NULL),(12437,'UniProt Function',NULL,14968,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12438,'UniProt Function',NULL,14969,NULL,'Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at \'Lys-36\' (H3.3K36me3) and regulates RNA polymerase II elongation. Does not bind other histone H3 subtypes (H3.1 or H3.2) (By similarity). Colocalizes with highly expressed genes and functions as a transcription corepressor by modulating RNA polymerase II at the elongation stage. Binds non-specifically to dsDNA (PubMed:24675531). Acts as a tumor-suppressor by repressing a transcriptional program essential for tumor cell growth.',NULL,NULL,NULL,NULL,NULL),(12439,'UniProt Function',NULL,14969,NULL,'(Microbial infection) Inhibits Epstein-Barr virus EBNA2-mediated transcriptional activation and host cell proliferation, through direct interaction.',NULL,NULL,NULL,NULL,NULL),(12440,'UniProt Function',NULL,14970,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12441,'UniProt Function',NULL,14971,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12442,'UniProt Function',NULL,14972,NULL,'Atypical E3 ubiquitin-protein ligase that mediates \'Lys-63\'-linked ubiquitination of MAP3K14/NIK, leading to stabilize and activate MAP3K14/NIK. It thereby acts as an activator of the non-canonical NF-kappa-B2/NFKB2 pathway. May also play an important role in cell proliferation and/or anti-apoptosis.',NULL,NULL,NULL,NULL,NULL),(12443,'UniProt Function',NULL,14973,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12444,'UniProt Function',NULL,14974,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12445,'UniProt Function',NULL,14976,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12446,'UniProt Function',NULL,14977,NULL,'Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation.',NULL,NULL,NULL,NULL,NULL),(12447,'UniProt Function',NULL,14978,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12448,'UniProt Function',NULL,14979,NULL,'Seems to play a role in p53-mediated apoptosis induction. Binds to NR1D2 and relieves it of its inhibitory effect on the transcription of APOC3 without affecting its DNA-binding activity.',NULL,NULL,NULL,NULL,NULL),(12449,'UniProt Function',NULL,14980,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12450,'UniProt Function',NULL,14981,NULL,'May function as a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(12451,'UniProt Function',NULL,14982,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12452,'UniProt Function',NULL,14983,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12453,'UniProt Function',NULL,14984,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12454,'UniProt Function',NULL,14985,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12455,'UniProt Function',NULL,14986,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12456,'UniProt Function',NULL,14987,NULL,'E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes neurodegeneration by mediating \'Lys-48\'-linked polyubiquitination and subsequent degradation of AKT1 in axons: degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and phosphorylation of DPYSL2/CRMP2 followed by destabilization of microtubule assembly in axons (Probable).',NULL,NULL,NULL,NULL,NULL),(12457,'UniProt Function',NULL,14988,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12458,'UniProt Function',NULL,14989,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12459,'UniProt Function',NULL,14990,NULL,'Facilitates the accumulation of zinc from the cytoplasm into intracellular vesicles, being a zinc-efflux transporter. May be a major component for providing zinc to insulin maturation and/or storage processes in insulin-secreting pancreatic beta-cells.',NULL,NULL,NULL,NULL,NULL),(12460,'UniProt Function',NULL,14991,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12461,'UniProt Function',NULL,14992,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12462,'UniProt Function',NULL,14993,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12463,'UniProt Function',NULL,14994,NULL,'Plays a role during development and organogenesis as well as in the function of the adult central nervous system (By similarity). May be involved in transcriptional regulation as a repressor of ESR1/ER-alpha signaling.',NULL,NULL,NULL,NULL,NULL),(12464,'UniProt Function',NULL,14995,NULL,'Isoform 3 acts as a DNA-dependent transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(12465,'UniProt Function',NULL,14996,NULL,'Transcription factor which binds to RE2 sequence elements in the MYOD1 enhancer.',NULL,NULL,NULL,NULL,NULL),(12466,'UniProt Function',NULL,14997,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12467,'UniProt Function',NULL,14998,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12468,'UniProt Function',NULL,14999,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12469,'UniProt Function',NULL,15000,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12470,'UniProt Function',NULL,15001,NULL,'Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates motility, adhesion and cytokine expression of mature T-cells, as well as thymocyte development. Contributes also to the development and activation of primary B-lymphocytes. When antigen presenting cells (APC) activate T-cell receptor (TCR), a serie of phosphorylations lead to the recruitment of ZAP70 to the doubly phosphorylated TCR component CD247/CD3Z through ITAM motif at the plasma membrane. This recruitment serves to localization to the stimulated TCR and to relieve its autoinhibited conformation. Release of ZAP70 active conformation is further stabilized by phosphorylation mediated by LCK. Subsequently, ZAP70 phosphorylates at least 2 essential adapter proteins: LAT and LCP2. In turn, a large number of signaling molecules are recruited and ultimately lead to lymphokine production, T-cell proliferation and differentiation. Furthermore, ZAP70 controls cytoskeleton modifications, adhesion and mobility of T-lymphocytes, thus ensuring correct delivery of effectors to the APC. ZAP70 is also required for TCR-CD247/CD3Z internalization and degradation through interaction with the E3 ubiquitin-protein ligase CBL and adapter proteins SLA and SLA2. Thus, ZAP70 regulates both T-cell activation switch on and switch off by modulating TCR expression at the T-cell surface. During thymocyte development, ZAP70 promotes survival and cell-cycle progression of developing thymocytes before positive selection (when cells are still CD4/CD8 double negative). Additionally, ZAP70-dependent signaling pathway may also contribute to primary B-cells formation and activation through B-cell receptor (BCR).',NULL,NULL,NULL,NULL,NULL),(12471,'UniProt Function',NULL,15002,NULL,'Binds to 5\'-TGTCG[CT]GA[CT]A-3\' DNA elements found in the promoter regions of a number of genes related to cell proliferation. Binds to the histone H1 promoter and stimulates transcription. Was first identified as gene weakly similar to Ac transposable elements, but does not code for any transposase activity.',NULL,NULL,NULL,NULL,NULL),(12472,'UniProt Function',NULL,15005,NULL,'Participates in the detection by the host\'s innate immune system of DNA from viral, bacterial or even host origin. Plays a role in host defense against tumors and pathogens. Acts as a cytoplasmic DNA sensor which, when activated, induces the recruitment of TBK1 and IRF3 to its C-terminal region and activates the downstream interferon regulatory factor (IRF) and NF-kappa B transcription factors, leading to type-I interferon production. ZBP1-induced NF-kappaB activation probably involves the recruitment of the RHIM containing kinases RIPK1 and RIPK3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(12473,'UniProt Function',NULL,15006,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12474,'UniProt Function',NULL,15007,NULL,'Strongly activates transcription when bound to HCFC1. Suppresses the expression of HSV proteins in cells infected with the virus in a HCFC1-dependent manner. Also suppresses the HCFC1-dependent transcriptional activation by CREB3 and reduces the amount of CREB3 in the cell. Able to down-regulate expression of some cellular genes in CREBZF-expressing cells.',NULL,NULL,NULL,NULL,NULL),(12475,'UniProt Function',NULL,15008,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12476,'UniProt Function',NULL,15010,NULL,'Involved in regulation of TNF-alpha induced NF-kappa-B activation and apoptosis. Involved in modulation of \'Lys-48\'-linked polyubiquitination status of TRAF2 and decreases association of TRAF2 with RIPK1. Required for PTS1 target sequence-dependent protein import into peroxisomes and PEX5 stability; may cooperate with PEX6. In vitro involved in PEX5 export from the cytosol to peroxisomes (By similarity).',NULL,NULL,NULL,NULL,NULL),(12477,'UniProt Function',NULL,15012,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12478,'UniProt Function',NULL,15013,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12479,'UniProt Function',NULL,15014,NULL,'Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with TGF-beta receptor internalization.',NULL,NULL,NULL,NULL,NULL),(12480,'UniProt Function',NULL,15015,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12481,'UniProt Function',NULL,15016,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12482,'UniProt Function',NULL,15017,NULL,'Transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(12483,'UniProt Function',NULL,15018,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12484,'UniProt Function',NULL,15019,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12485,'UniProt Function',NULL,15020,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12486,'UniProt Function',NULL,15021,NULL,'Involved in the regulation of neurogenesis. Negatively regulates neurite outgrowth (PubMed:17389905). Involved in the morphogenesis of basket cells in the somatosensory cortex during embryogenesis. Involved in the positive regulation of oligodendrocyte differentiation during postnatal growth. Involved in dendritic arborization, morphogenesis of spine density dendrite, and establishment of postsynaptic dendrite density in cortical pyramidal neurons (By similarity). Involved in homologous recombination (HR) repair pathway. Required for proper resolution of DNA double-strand breaks (DSBs) by HR. Is required for recovery of stalled replication forks, and directly contributes to genomic stability. Interacts with PARP1 and mediates MRE11-dependent DNA end resection during replication fork recovery (PubMed:23966166). Contributes to genomic stability by preventing telomere dysfunction (PubMed:23776040).',NULL,NULL,NULL,NULL,NULL),(12487,'UniProt Function',NULL,15022,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12488,'UniProt Function',NULL,15023,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12489,'UniProt Function',NULL,15024,NULL,'Transcriptional activator. Activates transcriptional activities of SRE and AP-1.',NULL,NULL,NULL,NULL,NULL),(12490,'UniProt Function',NULL,15025,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12491,'UniProt Function',NULL,15026,NULL,'Could have a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(12492,'UniProt Function',NULL,15027,NULL,'Transcriptional repressor that binds to elements found predominantly in genes that participate in lipid metabolism. Among its targets are structural components of lipoprotein particles (apolipoproteins AIV, CIII, and E), enzymes involved in lipid processing (lipoprotein lipase, lecithin cholesteryl ester transferase), transporters involved in lipid homeostasis (ABCA1, ABCG1), and several genes involved in processes related to energy metabolism and vascular disease.',NULL,NULL,NULL,NULL,NULL),(12493,'UniProt Function',NULL,15028,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12494,'UniProt Function',NULL,15029,NULL,'Seems to facilitate zinc transport from the cytoplasm into the Golgi apparatus. Partly regulates cellular zinc homeostasis. Required with ZNT5 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and the vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT5 and ZNT6 for the activation of TNAP (By similarity).',NULL,NULL,NULL,NULL,NULL),(12495,'UniProt Function',NULL,15030,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12496,'UniProt Function',NULL,15031,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12497,'UniProt Function',NULL,15032,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12498,'UniProt Function',NULL,15034,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12499,'UniProt Function',NULL,15035,NULL,'Mediates transcriptional repression in response to zinc. Represses several genes, including SLC30A5, SLC30A10 and CBWD1, by binding to the zinc transcriptional regulatory element (ZTRE) (5\'-C[AC]C[TAG]CC[TC]-N(0-50)-[GA]G[ATC]G[TG]G-3\') found in the promoter region. May play a role in the control of ribosome biogenesis, regulating predominantly rRNA levels, as well as those of several ribosomal proteins, thus coordinating this highly zinc-demanding process with the available zinc supply.',NULL,NULL,NULL,NULL,NULL),(12500,'UniProt Function',NULL,15036,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12501,'UniProt Function',NULL,15037,NULL,'Component or associated component of some histone methyltransferase complexes may regulate transcription through recruitment of those complexes on gene promoters. Enhances ligand-dependent transcriptional activation by nuclear hormone receptors. Plays an important role in neural progenitor cell proliferation and self-renewal through the regulation of specific genes involved brain development, including REST. Also controls the expression of genes involved in somatic development and regulates, for instance, lymphoblast proliferation.',NULL,NULL,NULL,NULL,NULL),(12502,'UniProt Function',NULL,15038,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12503,'UniProt Function',NULL,15039,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12504,'UniProt Function',NULL,15040,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12505,'UniProt Function',NULL,15041,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12506,'UniProt Function',NULL,15042,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12507,'UniProt Function',NULL,15043,NULL,'Transcription factor specifically required to repress long interspersed nuclear element 1 (L1) retrotransposons: recognizes and binds L1 sequences and repress their expression by recruiting a repressive complex containing TRIM28/KAP1 (PubMed:25274305). Not able to repress expression of all subtypes of L1 elements. Binds to the 5\' end of L1PA4, L1PA5 and L1PA6 subtypes, and some L1PA3 subtypes. Does not bind to L1PA7 or older subtypes nor at the most recently evolved L1PA2 and L1Hs. 50% of L1PA3 elements have lost the ZNF93-binding site, explaining why ZNF93 is not able to repress their expression (PubMed:25274305).',NULL,NULL,NULL,NULL,NULL),(12508,'UniProt Function',NULL,15044,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12509,'UniProt Function',NULL,15045,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12510,'UniProt Function',NULL,15046,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12511,'UniProt Function',NULL,15047,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12512,'UniProt Function',NULL,15048,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12513,'UniProt Function',NULL,15049,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12514,'UniProt Function',NULL,15050,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12515,'UniProt Function',NULL,15051,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12516,'UniProt Function',NULL,15052,NULL,'Zinc-activated ligand-gated ion channel.',NULL,NULL,NULL,NULL,NULL),(12517,'UniProt Function',NULL,15055,NULL,'Acts as a positive regulator in the activation of the canonical Wnt/beta-catenin signaling pathway by stabilizing cytoplasmic beta-catenin. Involved in transcription activation of Wnt target gene expression (By similarity).',NULL,NULL,NULL,NULL,NULL),(12518,'UniProt Function',NULL,15056,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12519,'UniProt Function',NULL,15058,NULL,'Palmitoyl acyltransferase for the G-protein coupled receptor SSTR5. Also palmitoylates FLOT2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(12520,'UniProt Function',NULL,15060,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12521,'UniProt Function',NULL,15061,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12522,'UniProt Function',NULL,15063,NULL,'Binds to a 5\'-TGCCGC-3\' consensus sequence and recognizes the methylated CpG within this element (By similarity). Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions. Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells.',NULL,NULL,NULL,NULL,NULL),(12523,'UniProt Function',NULL,15064,NULL,'Palmitoyltransferase for HTT and GAD2. May play a role in Mg(2+) transport.',NULL,NULL,NULL,NULL,NULL),(12524,'UniProt Function',NULL,15065,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12525,'UniProt Function',NULL,15068,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12526,'UniProt Function',NULL,15069,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12527,'UniProt Function',NULL,15070,NULL,'Acts as a transcriptional repressor. Involved in the early stages of mesenchymal stem cell (MSC) osteogenic differentiation. Is a regulator of podocyte gene expression during primary glomerula disease. Binds to promoter DNA.',NULL,NULL,NULL,NULL,NULL),(12528,'UniProt Function',NULL,15071,NULL,'Binds to the U5 repressive element (U5RE) of the human T cell leukemia virus type I long terminal repeat. It recognizes the 5\'-TCCACCCC-3\' sequence as a core motif and exerts a strong repressive effect on HTLV-I LTR-mediated expression.',NULL,NULL,NULL,NULL,NULL),(12529,'UniProt Function',NULL,15072,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12530,'UniProt Function',NULL,15073,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12531,'UniProt Function',NULL,15074,NULL,'Palmitoyltransferase specific for GAP43 and DLG4/PSD95.',NULL,NULL,NULL,NULL,NULL),(12532,'UniProt Function',NULL,15075,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12533,'UniProt Function',NULL,15076,NULL,'Acts as a transcriptional repressor (PubMed:20797634). Represses cAMP-responsive element (CRE)-mediated transcriptional activation (PubMed:21706167). In addition, has a role in translesion DNA synthesis. Requires for UV-inducible RAD18 loading, PCNA monoubiquitination, POLH recruitment to replication factories and efficient translesion DNA synthesis (PubMed:24657165). Plays a key role in the transcriptional regulation of T lymphocyte development (By similarity).',NULL,NULL,NULL,NULL,NULL),(12534,'UniProt Function',NULL,15077,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12535,'UniProt Function',NULL,15078,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12536,'UniProt Function',NULL,15079,NULL,'Zinc-efflux transporter which allocates the cytoplasmic zinc to the trans-Golgi network (TGN) as well as the vesicular compartment.',NULL,NULL,NULL,NULL,NULL),(12537,'UniProt Function',NULL,15080,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12538,'UniProt Function',NULL,15081,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12539,'UniProt Function',NULL,15083,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12540,'UniProt Function',NULL,15084,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12541,'UniProt Function',NULL,15085,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12542,'UniProt Function',NULL,15086,NULL,'May be involved in transcriptional regulation. Recognizes and binds 2 copies of the core DNA sequence 5\'-CCCCCA-3\'.',NULL,NULL,NULL,NULL,NULL),(12543,'UniProt Function',NULL,15087,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12544,'UniProt Function',NULL,15088,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12545,'UniProt Function',NULL,15089,NULL,'Transcriptional repressor which suppresses activation protein 1 (AP-1)- and serum response element (SRE)-mediated transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(12546,'UniProt Function',NULL,15090,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12547,'UniProt Function',NULL,15091,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12548,'UniProt Function',NULL,15092,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12549,'UniProt Function',NULL,15093,NULL,'Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG (PubMed:21570965). By binding PBX1, prevents the heterodimerization of PBX1 and HOXA9 and their binding to DNA (By similarity). Regulates neuronal development and neural cell differentiation (PubMed:21570965).',NULL,NULL,NULL,NULL,NULL),(12550,'UniProt Function',NULL,15094,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12551,'UniProt Function',NULL,15095,NULL,'Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:15824131).',NULL,NULL,NULL,NULL,NULL),(12552,'UniProt Function',NULL,15096,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12553,'UniProt Function',NULL,15097,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12554,'UniProt Function',NULL,15098,NULL,'May be involved in transcriptional regulation. May have a role in embryonic development.',NULL,NULL,NULL,NULL,NULL),(12555,'UniProt Function',NULL,15099,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12556,'UniProt Function',NULL,15100,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12557,'UniProt Function',NULL,15101,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12558,'UniProt Function',NULL,15102,NULL,'May play a role in pre-mRNA splicing as component of the spliceosome (PubMed:25599396). Acts as an important regulator of the cell cycle that participates in the maintenance of genome integrity. During cell cycle progression in embryonic fibroblast, prevents replication fork collapse, double-strand break formation and cell cycle checkpoint activation. Controls mitotic cell cycle progression and cell survival in rapidly proliferating intestinal epithelium and embryonic stem cells. During the embryo preimplantation, controls different aspects of M phase. During early oocyte growth, plays a role in oocyte survival by preventing chromosomal breaks formation, activation of TP63 and reduction of transcription (By similarity).',NULL,NULL,NULL,NULL,NULL),(12559,'UniProt Function',NULL,15103,NULL,'Strong transcriptional activator.',NULL,NULL,NULL,NULL,NULL),(12560,'UniProt Function',NULL,15104,NULL,'Probably acts as target recruitment subunit in an E3 ubiquitin ligase complex ZYGA-CUL2-elongin BC.',NULL,NULL,NULL,NULL,NULL),(12561,'UniProt Function',NULL,15105,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12562,'UniProt Function',NULL,15106,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12563,'UniProt Function',NULL,15107,NULL,'Embryonic stem (ES) cell-specific transcription factor required to regulate ES cell pluripotency. Binds telomeres and plays a key role in genomic stability in ES cells by regulating telomere elongation. Acts as an activator of spontaneous telomere sister chromatid exchange (T-SCE) and telomere elongation in undifferentiated ES cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(12564,'UniProt Function',NULL,15108,NULL,'Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO7 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus.',NULL,NULL,NULL,NULL,NULL),(12565,'UniProt Function',NULL,15113,NULL,'May link EHMT1 and EHMT2 histone methyltransferases to the CTBP corepressor machinery. May be involved in EHMT1-EHMT2 heterodimer formation and stabilization (By similarity).',NULL,NULL,NULL,NULL,NULL),(12566,'UniProt Function',NULL,15114,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:20018874). Functions as upstream regulator of FGF10 expression. Plays an important role in embryonic lung development. May contribute to embryonic brain development by regulating the proliferation of dopaminergic precursors and neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(12567,'UniProt Function',NULL,15115,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta-catenin-induced reporter gene expression (By similarity). Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decreases proliferation, migration, invasiveness and clonogenicity of carcinoma cells and may act as a tumor suppressor (PubMed:15735754). Mediates motility of melanoma cells (PubMed:17426020). Required during embryogenesis for extension of the primary anterior-posterior axis and for outgrowth of limbs and the genital tubercle. Inhibits type II collagen expression in chondrocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(12568,'UniProt Function',NULL,15116,NULL,'Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:20093360, PubMed:21244856, PubMed:24841207, PubMed:26902720). Required for normal embryonic mesoderm development and formation of caudal somites. Required for normal morphogenesis of the developing neural tube (By similarity). Mediates self-renewal of the stem cells at the bottom on intestinal crypts (in vitro) (PubMed:26902720).',NULL,NULL,NULL,NULL,NULL),(12569,'UniProt Function',NULL,15117,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Polyubiquitinates POU5F1 by \'Lys-63\'-linked conjugation and promotes it to proteasomal degradation; in embryonic stem cells (ESCs) the ubiquitination is proposed to regulate POU5F1 protein level. Ubiquitinates EGR2 and promotes it to proteasomal degradation; in T-cells the ubiquitination inhibits activation-induced cell death. Ubiquitinates SLC11A2; the ubiquitination is enhanced by presence of NDFIP1 and NDFIP2. Ubiquitinates RPB1 and promotes it to proteasomal degradation.',NULL,NULL,NULL,NULL,NULL),(12570,'UniProt Function',NULL,15118,NULL,'Mediates the nuclear export of proteins bearing a double-stranded RNA binding domain (dsRBD) and double-stranded RNAs (cargos). XPO5 in the nucleus binds cooperatively to the RNA and to the GTPase Ran in its active GTP-bound form. Proteins containing dsRBDs can associate with this trimeric complex through the RNA. Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause disassembly of the complex and release of the cargo from the export receptor. XPO5 then returns to the nuclear compartment by diffusion through the nuclear pore complex, to mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Overexpression may in some circumstances enhance RNA-mediated gene silencing (RNAi). Mediates nuclear export of isoform 5 of ADAR/ADAR1 in a RanGTP-dependent manner.',NULL,NULL,NULL,NULL,NULL),(12571,'UniProt Function',NULL,15118,NULL,'Mediates the nuclear export of micro-RNA precursors, which form short hairpins (PubMed:14681208, PubMed:14631048, PubMed:15613540). Also mediates the nuclear export of synthetic short hairpin RNAs used for RNA interference. In some circumstances can also mediate the nuclear export of deacylated and aminoacylated tRNAs. Specifically recognizes dsRNAs that lack a 5\'-overhang in a sequence-independent manner, have only a short 3\'-overhang, and that have a double-stranded length of at least 15 base-pairs (PubMed:19965479). Binding is dependent on Ran-GTP (PubMed:19965479).',NULL,NULL,NULL,NULL,NULL),(12572,'UniProt Function',NULL,15118,NULL,'(Microbial infection) Mediates the nuclear export of adenovirus VA1 dsRNA.',NULL,NULL,NULL,NULL,NULL),(12573,'UniProt Function',NULL,15121,NULL,'Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3\'-5\' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and bringing them together (PubMed:12145306, PubMed:20383123, PubMed:7957065, PubMed:8621488). The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step. In association with NAA15, the XRCC5/6 dimer binds to the osteocalcin promoter and activates osteocalcin expression (PubMed:20383123). The XRCC5/6 dimer probably also acts as a 5\'-deoxyribose-5-phosphate lyase (5\'-dRP lyase), by catalyzing the beta-elimination of the 5\' deoxyribose-5-phosphate at an abasic site near double-strand breaks. XRCC5 probably acts as the catalytic subunit of 5\'-dRP activity, and allows to \'clean\' the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with APEX1 acts as a negative regulator of transcription (PubMed:8621488). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway.',NULL,NULL,NULL,NULL,NULL),(12574,'UniProt Function',NULL,15122,NULL,'Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(12575,'UniProt Function',NULL,15123,NULL,'Guanine nucleotide exchange factor for the Rho family of Ras-related GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(12576,'UniProt Function',NULL,15124,NULL,'Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).',NULL,NULL,NULL,NULL,NULL),(12577,'UniProt Function',NULL,15125,NULL,'Important in cell-cell recognition. Appears to function in leukocyte-endothelial cell adhesion. Interacts with integrin alpha-4/beta-1 (ITGA4/ITGB1) on leukocytes, and mediates both adhesion and signal transduction. The VCAM1/ITGA4/ITGB1 interaction may play a pathophysiologic role both in immune responses and in leukocyte emigration to sites of inflammation.',NULL,NULL,NULL,NULL,NULL),(12578,'UniProt Function',NULL,15126,NULL,'May mediate a process in spermatogenesis or may play a role in sex ratio distortion.',NULL,NULL,NULL,NULL,NULL),(12579,'UniProt Function',NULL,15127,NULL,'May mediate a process in spermatogenesis or may play a role in sex ratio distortion.',NULL,NULL,NULL,NULL,NULL),(12580,'UniProt Function',NULL,15128,NULL,'May mediate a process in spermatogenesis or may play a role in sex ratio distortion.',NULL,NULL,NULL,NULL,NULL),(12581,'UniProt Function',NULL,15129,NULL,'Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity).',NULL,NULL,NULL,NULL,NULL),(12582,'UniProt Function',NULL,15130,NULL,'Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a potent dominant-negative Wnt antagonist. Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle (By similarity). May be a regulator of axial polarization in the retina.',NULL,NULL,NULL,NULL,NULL),(12583,'UniProt Function',NULL,15132,NULL,'May mediate a process in spermatogenesis or may play a role in sex ratio distortion.',NULL,NULL,NULL,NULL,NULL),(12584,'UniProt Function',NULL,15134,NULL,'Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. Induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis and induces permeabilization of blood vessels. Binds to the FLT1/VEGFR1 and KDR/VEGFR2 receptors, heparan sulfate and heparin. NRP1/Neuropilin-1 binds isoforms VEGF-165 and VEGF-145. Isoform VEGF165B binds to KDR but does not activate downstream signaling pathways, does not activate angiogenesis and inhibits tumor growth. Binding to NRP1 receptor initiates a signaling pathway needed for motor neuron axon guidance and cell body migration, including for the caudal migration of facial motor neurons from rhombomere 4 to rhombomere 6 during embryonic development (By similarity).',NULL,NULL,NULL,NULL,NULL),(12585,'UniProt Function',NULL,15135,NULL,'Growth factor active in angiogenesis, lymphangiogenesis and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in the formation of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates VEGFR-2 (KDR/FLK1) and VEGFR-3 (FLT4) receptors.',NULL,NULL,NULL,NULL,NULL),(12586,'UniProt Function',NULL,15136,NULL,'May be involved in ventralization.',NULL,NULL,NULL,NULL,NULL),(12587,'UniProt Function',NULL,15139,NULL,'Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFB and PGF, and plays an essential role in the development of embryonic vasculature, the regulation of angiogenesis, cell survival, cell migration, macrophage function, chemotaxis, and cancer cell invasion. May play an essential role as a negative regulator of embryonic angiogenesis by inhibiting excessive proliferation of endothelial cells. Can promote endothelial cell proliferation, survival and angiogenesis in adulthood. Its function in promoting cell proliferation seems to be cell-type specific. Promotes PGF-mediated proliferation of endothelial cells, proliferation of some types of cancer cells, but does not promote proliferation of normal fibroblasts (in vitro). Has very high affinity for VEGFA and relatively low protein kinase activity; may function as a negative regulator of VEGFA signaling by limiting the amount of free VEGFA and preventing its binding to KDR. Likewise, isoforms lacking a transmembrane domain, such as isoform 2, isoform 3 and isoform 4, may function as decoy receptors for VEGFA. Modulates KDR signaling by forming heterodimers with KDR. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leading to activation of phosphatidylinositol kinase and the downstream signaling pathway. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Phosphorylates SRC and YES1, and may also phosphorylate CBL. Isoform 1 phosphorylates PLCG. Promotes phosphorylation of AKT1 at \'Ser-473\'. Promotes phosphorylation of PTK2/FAK1. Isoform 7 has a truncated kinase domain; it increases phosphorylation of SRC at \'Tyr-418\' by unknown means and promotes tumor cell invasion.',NULL,NULL,NULL,NULL,NULL),(12588,'UniProt Function',NULL,15140,NULL,'Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD. Isoform 2 plays an important role as negative regulator of VEGFA- and VEGFC-mediated lymphangiogenesis by limiting the amount of free VEGFA and/or VEGFC and preventing their binding to FLT4. Modulates FLT1 and FLT4 signaling by forming heterodimers. Binding of vascular growth factors to isoform 1 leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, reorganization of the actin cytoskeleton and activation of PTK2/FAK1. Required for VEGFA-mediated induction of NOS2 and NOS3, leading to the production of the signaling molecule nitric oxide (NO) by endothelial cells. Phosphorylates PLCG1. Promotes phosphorylation of FYN, NCK1, NOS3, PIK3R1, PTK2/FAK1 and SRC.',NULL,NULL,NULL,NULL,NULL),(12589,'UniProt Function',NULL,15141,NULL,'May act as a specific coactivator for the mammalian TEFs.',NULL,NULL,NULL,NULL,NULL),(12590,'UniProt Function',NULL,15142,NULL,'Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate.',NULL,NULL,NULL,NULL,NULL),(12591,'UniProt Function',NULL,15143,NULL,'Chromatin reader component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. YEATS2 specifically recognizes and binds histone H3 crotonylated at \'Lys-27\' (H3K27cr) (PubMed:27103431). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:27103431).',NULL,NULL,NULL,NULL,NULL),(12592,'UniProt Function',NULL,15156,NULL,'Functions as a multifunctional transcription factor that may exhibit positive and negative control on a large number of genes. May antagonize YY1 and function in development and differentiation.',NULL,NULL,NULL,NULL,NULL),(12593,'UniProt Function',NULL,15157,NULL,'Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid-binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Probably plays a role in trafficking proteins in photoreceptor cells. Plays important roles in mediating Src family kinase signals for the completion of cytokinesis via RAB11A.',NULL,NULL,NULL,NULL,NULL),(12594,'UniProt Function',NULL,15158,NULL,'Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3\'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(12595,'UniProt Function',NULL,15159,NULL,'Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex required for pre-mRNA splicing. Binds GTP.',NULL,NULL,NULL,NULL,NULL),(12596,'UniProt Function',NULL,15160,NULL,'Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3\'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (By similarity). May methylate the carboxyl group of leucine residues to form alpha-leucine ester residues.',NULL,NULL,NULL,NULL,NULL),(12597,'UniProt Function',NULL,15161,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:8132613, PubMed:17588522, PubMed:20061386). E2 ubiquitin conjugating enzyme that transfers ubiquitin to MAEA, a core component of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). In vitro catalyzes \'Lys-11\'- and \'Lys-48\'-linked polyubiquitination (PubMed:20061386). Capable, in vitro, to ubiquitinate histone H2A (PubMed:8132613).',NULL,NULL,NULL,NULL,NULL),(12598,'UniProt Function',NULL,15162,NULL,'Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.',NULL,NULL,NULL,NULL,NULL),(12599,'UniProt Function',NULL,15163,NULL,'Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases (By similarity). May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase (By similarity). May regulate myosin assembly in striated muscles together with STUB1 and VCP/p97 by targeting myosin chaperone UNC45B for proteasomal degradation (PubMed:17369820).',NULL,NULL,NULL,NULL,NULL),(12600,'UniProt Function',NULL,15164,NULL,'Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX1, but not RBX2, suggests that the RBX1-UBE2M complex neddylates specific target proteins, such as CUL1, CUL2, CUL3 and CUL4. Involved in cell proliferation.',NULL,NULL,NULL,NULL,NULL),(12601,'UniProt Function',NULL,15166,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair. Acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:19589784, PubMed:28437106). Also mediates monoubiquitination of FANCL and FANCI (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:19589784). May contribute to ubiquitination and degradation of BRCA1 (PubMed:19887602). In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer \'Lys-11\'-, \'Lys-27\'-, \'Lys-48\'- and \'Lys-63\'-linked polyubiquitination (PubMed:20061386).',NULL,NULL,NULL,NULL,NULL),(12602,'UniProt Function',NULL,15167,NULL,'Protease that specifically cleaves \'Lys-48\'-linked polyubiquitin chains. Deubiquitinating enzyme associated with the 19S regulatory subunit of the 26S proteasome. Putative regulatory component of the INO80 complex; however is inactive in the INO80 complex and is activated by a transient interaction of the INO80 complex with the proteasome via ADRM1.',NULL,NULL,NULL,NULL,NULL),(12603,'UniProt Function',NULL,15168,NULL,'Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(12604,'UniProt Function',NULL,15169,NULL,'Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(12605,'UniProt Function',NULL,15170,NULL,'Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform is essential for energy coupling involved in acidification of acrosome (By similarity).',NULL,NULL,NULL,NULL,NULL),(12606,'UniProt Function',NULL,15171,NULL,'Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(12607,'UniProt Function',NULL,15172,NULL,'Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation.',NULL,NULL,NULL,NULL,NULL),(12608,'UniProt Function',NULL,15173,NULL,'Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules. The channel adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation-selective.',NULL,NULL,NULL,NULL,NULL),(12609,'UniProt Function',NULL,15178,NULL,'Growth factor active in angiogenesis, and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in angiogenesis of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates KDR/VEGFR2 and FLT4/VEGFR3 receptors.',NULL,NULL,NULL,NULL,NULL),(12610,'UniProt Function',NULL,15180,NULL,'Required for neurogenesis in the neural plate and retina. Strongly cooperates with neural bHLH factors to promote neurogenesis.',NULL,NULL,NULL,NULL,NULL),(12611,'UniProt Function',NULL,15181,NULL,'Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. Required for morphogenesis of the preimplantation embryo, and for the implantation process.',NULL,NULL,NULL,NULL,NULL),(12612,'UniProt Function',NULL,15181,NULL,'(Microbial infection) In case of Listeria infection, promotes bacterial internalization by participating in myosin VIIa recruitment to the entry site.',NULL,NULL,NULL,NULL,NULL),(12613,'UniProt Function',NULL,15182,NULL,'Possible transcription factor. Specifically binds to the CT/GC-rich region of the interleukin-3 promoter and mediates tax transactivation of IL-3.',NULL,NULL,NULL,NULL,NULL),(12614,'UniProt Function',NULL,15183,NULL,'Probably catalyzes the deacetylation of acetylated carbohydrates an important step in the degradation of oligosaccharides.',NULL,NULL,NULL,NULL,NULL),(12615,'UniProt Function',NULL,15185,NULL,'Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine (PubMed:11549322, PubMed:18768590). Required for normal Ca(2+) reabsorption in the kidney distal convoluted tubules (By similarity). The channel is activated by low internal calcium level and the current exhibits an inward rectification (PubMed:11549322, PubMed:18768590). A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay (By similarity). Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating (By similarity).',NULL,NULL,NULL,NULL,NULL),(12616,'UniProt Function',NULL,15186,NULL,'DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 3\'-phosphodiester bond, giving rise to DNA with a free 3\' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomerase I active site tyrosine residue. Hydrolyzes 3\'-phosphoglycolates on protruding 3\' ends on DNA double-strand breaks due to DNA damage by radiation and free radicals. Acts on blunt-ended double-strand DNA breaks and on single-stranded DNA. Has low 3\'exonuclease activity and can remove a single nucleoside from the 3\'end of DNA and RNA molecules with 3\'hydroxyl groups. Has no exonuclease activity towards DNA or RNA with a 3\'phosphate.',NULL,NULL,NULL,NULL,NULL),(12617,'UniProt Function',NULL,15187,NULL,'May act as an oxidative stress mediator by inhibiting thioredoxin activity or by limiting its bioavailability. Interacts with COPS5 and restores COPS5-induced suppression of CDKN1B stability, blocking the COPS5-mediated translocation of CDKN1B from the nucleus to the cytoplasm. Functions as a transcriptional repressor, possibly by acting as a bridge molecule between transcription factors and corepressor complexes, and over-expression will induce G0/G1 cell cycle arrest. Required for the maturation of natural killer cells. Acts as a suppressor of tumor cell growth. Inhibits the proteasomal degradation of DDIT4, and thereby contributes to the inhibition of the mammalian target of rapamycin complex 1 (mTORC1).',NULL,NULL,NULL,NULL,NULL),(12618,'UniProt Function',NULL,15188,NULL,'Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3\'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(12619,'UniProt Function',NULL,15189,NULL,'Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions (PubMed:28661582). May regulate or influence the type of melanin synthesized (PubMed:22556244, PubMed:16704458). Also to a lower extent, capable of hydroxylating tyrosine and producing melanin (By similarity).',NULL,NULL,NULL,NULL,NULL),(12620,'UniProt Function',NULL,15190,NULL,'Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3\'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the prespliceosome, a precursor to other spliceosomal complexes. For U2-type introns, it is selectively and specifically required for the second step of splicing.',NULL,NULL,NULL,NULL,NULL),(12621,'UniProt Function',NULL,15191,NULL,'Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress. Down-regulates the expression of LGALS3 by inhibiting NFKB1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(12622,'UniProt Function',NULL,15191,NULL,'Modulates isoactin dynamics to regulate the morphological alterations required for cell growth and motility. Interaction with ARF6 may modulate cell shape and motility after injury. May be involved in multiple neurite formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(12623,'UniProt Function',NULL,15192,NULL,'E1-like enzyme which activates UFM1 and SUMO2.',NULL,NULL,NULL,NULL,NULL),(12624,'UniProt Function',NULL,15194,NULL,'The UBE2V1-UBE2N and UBE2V2-UBE2N heterodimers catalyze the synthesis of non-canonical \'Lys-63\'-linked polyubiquitin chains. This type of polyubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Acts together with the E3 ligases, HLTF and SHPRH, in the \'Lys-63\'-linked poly-ubiquitination of PCNA upon genotoxic stress, which is required for DNA repair. Appears to act together with E3 ligase RNF5 in the \'Lys-63\'-linked polyubiquitination of JKAMP thereby regulating JKAMP function by decreasing its association with components of the proteasome and ERAD. Promotes TRIM5 capsid-specific restriction activity and the UBE2V1-UBE2N heterodimer acts in concert with TRIM5 to generate \'Lys-63\'-linked polyubiquitin chains which activate the MAP3K7/TAK1 complex which in turn results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes.',NULL,NULL,NULL,NULL,NULL),(12625,'UniProt Function',NULL,15195,NULL,'Essential for proliferation of the inner cell mass and trophectodermal cells in peri-implantation development.',NULL,NULL,NULL,NULL,NULL),(12626,'UniProt Function',NULL,15196,NULL,'Ubiquitin-like protein modifier which can be covalently attached to target protein and subsequently leads to their degradation by the 26S proteasome, in a NUB1-dependent manner. Probably functions as a survival factor. Conjugation ability activated by UBA6. Promotes the expression of the proteasome subunit beta type-9 (PSMB9/LMP2). Regulates TNF-alpha-induced and LPS-mediated activation of the central mediator of innate immunity NF-kappa-B by promoting TNF-alpha-mediated proteasomal degradation of ubiquitinated-I-kappa-B-alpha. Required for TNF-alpha-induced p65 nuclear translocation in renal tubular epithelial cells (RTECs). May be involved in dendritic cell (DC) maturation, the process by which immature dendritic cells differentiate into fully competent antigen-presenting cells that initiate T-cell responses. Mediates mitotic non-disjunction and chromosome instability, in long-term in vitro culture and cancers, by abbreviating mitotic phase and impairing the kinetochore localization of MAD2L1 during the prometaphase stage of the cell cycle. May be involved in the formation of aggresomes when proteasome is saturated or impaired. Mediates apoptosis in a caspase-dependent manner, especially in renal epithelium and tubular cells during renal diseases such as polycystic kidney disease and Human immunodeficiency virus (HIV)-associated nephropathy (HIVAN).',NULL,NULL,NULL,NULL,NULL),(12627,'UniProt Function',NULL,15197,NULL,'Has no ubiquitin ligase activity on its own. The UBE2V1-UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through Lys-63. This type of poly-ubiquitination activates IKK and does not seem to involve protein degradation by the proteasome. Plays a role in the activation of NF-kappa-B mediated by IL1B, TNF, TRAF6 and TRAF2. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Promotes TRIM5 capsid-specific restriction activity and the UBE2V1-UBE2N heterodimer acts in concert with TRIM5 to generate \'Lys-63\'-linked polyubiquitin chains which activate the MAP3K7/TAK1 complex which in turn results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes.',NULL,NULL,NULL,NULL,NULL),(12628,'UniProt Function',NULL,15198,NULL,'Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at \'Lys-120\' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes \'Lys-11\'-, as well as \'Lys-48\'- and \'Lys-63\'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA. Associates to the E3 ligase RAD18 to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono-ubiquitination of DNA-associated PCNA on \'Lys-164\'. May be involved in neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(12629,'UniProt Function',NULL,15199,NULL,'Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. Also binds to free monoubiquitin and may prevent its degradation in lysosomes. The homodimer may have ATP-independent ubiquitin ligase activity.',NULL,NULL,NULL,NULL,NULL),(12630,'UniProt Function',NULL,15200,NULL,'Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin precursors and ubiquitinated proteins. Thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of either ubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys at position P3\", and exhibits a preference towards \'Lys-48\'-linked ubiquitin chains. Deubiquitinates ENAC in apical compartments, thereby regulating apical membrane recycling. Indirectly increases the phosphorylation of IGFIR, AKT and FOXO1 and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal muscle and germ cell maintenance. May be involved in working memory. Can hydrolyze UBB(+1), a mutated form of ubiquitin which is not effectively degraded by the proteasome and is associated with neurogenerative disorders.',NULL,NULL,NULL,NULL,NULL),(12631,'UniProt Function',NULL,15201,NULL,'Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine.',NULL,NULL,NULL,NULL,NULL),(12632,'UniProt Function',NULL,15202,NULL,'Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine.',NULL,NULL,NULL,NULL,NULL),(12633,'UniProt Function',NULL,15203,NULL,'May contribute to UTP accumulation needed for blast transformation and proliferation.',NULL,NULL,NULL,NULL,NULL),(12634,'UniProt Function',NULL,15204,NULL,'Acts as a GTPase-activating protein for RAB5A and RAB43. Involved in receptor trafficking. In complex with EPS8 inhibits internalization of EGFR. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. Required for structural integrity of the Golgi complex.',NULL,NULL,NULL,NULL,NULL),(12635,'UniProt Function',NULL,15205,NULL,'Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Specifically hydrolyzes \'Lys-48\'-, \'Lys-29\'- and \'Lys-33\'-linked polyubiquitins chains. Essential component of TGF-beta/BMP signaling cascade. Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Deubiquitinates alkylation repair enzyme ALKBH3. OTUD4 recruits USP7 and USP9X to stabilize ALKBH3, thereby promoting the repair of alkylated DNA lesions (PubMed:25944111). Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to mitotic centromeres. Involved in axonal growth and neuronal cell migration (PubMed:16322459, PubMed:18254724, PubMed:19135894, PubMed:24607389). Regulates cellular clock function by enhancing the protein stability and transcriptional activity of the core circadian protein ARNTL/BMAL1 via its deubiquitinating activity (PubMed:29626158).',NULL,NULL,NULL,NULL,NULL),(12636,'UniProt Function',NULL,15206,NULL,'Sulfotransferase that catalyzes the transfer of sulfate to the position 2 of uronyl residues. Has mainly activity toward iduronyl residues in dermatan sulfate, and weaker activity toward glucuronyl residues of chondroitin sulfate. Has no activity toward desulfated N-resulfated heparin.',NULL,NULL,NULL,NULL,NULL),(12637,'UniProt Function',NULL,15207,NULL,'SUMO-specific isopeptidase involved in protein desumoylation. Specifically binds SUMO proteins with a higher affinity for SUMO2 and SUMO3 which it cleaves more efficiently. Also able to process full-length SUMO proteins to their mature forms (PubMed:22878415). Plays a key role in RNA polymerase-II-mediated snRNA transcription in the Cajal bodies (PubMed:24413172). Is a component of complexes that can bind to U snRNA genes (PubMed:24413172).',NULL,NULL,NULL,NULL,NULL),(12638,'UniProt Function',NULL,15208,NULL,'May be required for ribosome biogenesis.',NULL,NULL,NULL,NULL,NULL),(12639,'UniProt Function',NULL,15209,NULL,'Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis.',NULL,NULL,NULL,NULL,NULL),(12640,'UniProt Function',NULL,15210,NULL,'Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity).',NULL,NULL,NULL,NULL,NULL),(12641,'UniProt Function',NULL,15211,NULL,'Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(12642,'UniProt Function',NULL,15212,NULL,'Involved in acetylcholine transport into synaptic vesicles.',NULL,NULL,NULL,NULL,NULL),(12643,'UniProt Function',NULL,15214,NULL,'Involved in the targeting and/or fusion of transport vesicles to their target membrane. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1.',NULL,NULL,NULL,NULL,NULL),(12644,'UniProt Function',NULL,15215,NULL,'May participate in trafficking events that are associated with myogenesis, such as myoblast fusion and/or GLUT4 trafficking.',NULL,NULL,NULL,NULL,NULL),(12645,'UniProt Function',NULL,15216,NULL,'Binds to OSBPL3, which mediates recruitment of VAPA to plasma membrane sites (PubMed:25447204). The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface (PubMed:25447204). With OSBPL3, may regulate ER morphology (PubMed:16143324). May play a role in vesicle trafficking (PubMed:11511104, PubMed:19289470).',NULL,NULL,NULL,NULL,NULL),(12646,'UniProt Function',NULL,15218,NULL,'Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance, lamellipodial and filopodial dynamics, platelet activation and cell migration. VASP promotes actin filament elongation. It protects the barbed end of growing actin filaments against capping and increases the rate of actin polymerization in the presence of capping protein. VASP stimulates actin filament elongation by promoting the transfer of profilin-bound actin monomers onto the barbed end of growing actin filaments. Plays a role in actin-based mobility of Listeria monocytogenes in host cells. Regulates actin dynamics in platelets and plays an important role in regulating platelet aggregation.',NULL,NULL,NULL,NULL,NULL),(12647,'UniProt Function',NULL,15220,NULL,'Possesses ATPase activity (By similarity). Plays a part in calcium-regulated keratinocyte activation in epidermal repair mechanisms. Has no effect on cell proliferation. Negatively regulates mitochondrial fusion in cooperation with mitofusin proteins (MFN1-2).',NULL,NULL,NULL,NULL,NULL),(12648,'UniProt Function',NULL,15221,NULL,'Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:29146869). Acts as an angiogenesis inhibitor: inhibits migration, proliferation and network formation by endothelial cells as well as angiogenesis (PubMed:15467828, PubMed:16488400, PubMed:16707096, PubMed:19204325). This inhibitory effect is selective to endothelial cells as it does not affect the migration of smooth muscle cells or fibroblasts (PubMed:15467828, PubMed:16488400, PubMed:16707096).',NULL,NULL,NULL,NULL,NULL),(12649,'UniProt Function',NULL,15222,NULL,'Probably acts as target recruitment subunit in the E3 ubiquitin ligase complex ZER1-CUL2-Elongin BC.',NULL,NULL,NULL,NULL,NULL),(12650,'UniProt Function',NULL,15223,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12651,'UniProt Function',NULL,15224,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12652,'UniProt Function',NULL,15225,NULL,'Transcriptional regulator that is critical for the regulation of pain perception and processing of noxious stimuli.',NULL,NULL,NULL,NULL,NULL),(12653,'UniProt Function',NULL,15226,NULL,'Binds with low affinity to dsDNA and ssRNA, and with high affinity to dsRNA, with no detectable sequence specificity (PubMed:24521053). May bind to specific miRNA hairpins (PubMed:28431233).',NULL,NULL,NULL,NULL,NULL),(12654,'UniProt Function',NULL,15227,NULL,'Transcription activator. Binds DNA on GT-box consensus sequence 5\'-TTGGTT-3\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(12655,'UniProt Function',NULL,15228,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12656,'UniProt Function',NULL,15229,NULL,'Transcriptional repressor. Plays a role in oligodendrocyte differentiation, together with OLIG2. Mediates Notch signaling-activated formation of oligodendrocyte precursors. Promotes differentiation of adult neural stem progenitor cells (NSPCs) into mature oligodendrocytes and contributes to remyelination following nerve injury.',NULL,NULL,NULL,NULL,NULL),(12657,'UniProt Function',NULL,15230,NULL,'Mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including p53/TP53, P73, HDAC1 and CDKN1B. Preferentially acts on tetrameric p53/TP53. Monoubiquitinates the translesion DNA polymerase POLH. Contributes to the regulation of the cell cycle progression. Increases AR transcription factor activity.',NULL,NULL,NULL,NULL,NULL),(12658,'UniProt Function',NULL,15231,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12659,'UniProt Function',NULL,15232,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12660,'UniProt Function',NULL,15233,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12661,'UniProt Function',NULL,15234,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12662,'UniProt Function',NULL,15235,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12663,'UniProt Function',NULL,15236,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12664,'UniProt Function',NULL,15237,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12665,'UniProt Function',NULL,15238,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12666,'UniProt Function',NULL,15239,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12667,'UniProt Function',NULL,15241,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12668,'UniProt Function',NULL,15242,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12669,'UniProt Function',NULL,15243,NULL,'E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby resticting the size of the intestinal stem cell zone (PubMed:22575959). Along with RSPO2 and RNF43, constitutes a master switch that governs limb specification (By similarity).',NULL,NULL,NULL,NULL,NULL),(12670,'UniProt Function',NULL,15244,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12671,'UniProt Function',NULL,15245,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12672,'UniProt Function',NULL,15246,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12673,'UniProt Function',NULL,15247,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12674,'UniProt Function',NULL,15249,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(12675,'UniProt Function',NULL,15250,NULL,'Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes.',NULL,NULL,NULL,NULL,NULL),(12676,'UniProt Function',NULL,15251,NULL,'The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.',NULL,NULL,NULL,NULL,NULL),(12677,'UniProt Function',NULL,15252,NULL,'Nucleoplasmic shuttling protein, which inhibits translation initiation. Mediates the nuclear import of EIF4E by a piggy-back mechanism.',NULL,NULL,NULL,NULL,NULL),(12678,'UniProt Function',NULL,15253,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12679,'UniProt Function',NULL,15254,NULL,'G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for ergot alkaloid derivatives, various anxiolytic and antidepressant drugs and other psychoactive substances, such as lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. Arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Regulates the release of 5-hydroxytryptamine, dopamine and acetylcholine in the brain, and thereby affects neural activity, nociceptive processing, pain perception, mood and behavior. Besides, plays a role in vasoconstriction of cerebral arteries.',NULL,NULL,NULL,NULL,NULL),(12680,'UniProt Function',NULL,15255,NULL,'DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single-or double-stranded RNA. Exhibits antiviral activity against simian immunodeficiency virus (SIV), hepatitis B virus (HBV) and human T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons.',NULL,NULL,NULL,NULL,NULL),(12681,'UniProt Function',NULL,15257,NULL,'May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(12682,'UniProt Function',NULL,15258,NULL,'Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239).',NULL,NULL,NULL,NULL,NULL),(12683,'UniProt Function',NULL,15259,NULL,'Acyl-CoA dehydrogenase, that exhibits maximal activity towards saturated C22-CoA.',NULL,NULL,NULL,NULL,NULL),(12684,'UniProt Function',NULL,15260,NULL,'Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0), C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides > D-erythro-C(24:0)-ceramide > D-erythro-C(6:0)-ceramide. Inhibits the maturation of protein glycosylation in the Golgi complex, including that of integrin beta-1 (ITGB1) and of LAMP1, by increasing the levels of sphingosine. Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate.',NULL,NULL,NULL,NULL,NULL),(12685,'UniProt Function',NULL,15261,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(12686,'UniProt Function',NULL,15262,NULL,'Converts alpha-amino-beta-carboxymuconate-epsilon-semialdehyde (ACMS) to alpha-aminomuconate semialdehyde (AMS). ACMS can be converted non-enzymatically to quinolate (QA), a key precursor of NAD, and a potent endogenous excitotoxin of neuronal cells which is implicated in the pathogenesis of various neurodegenerative disorders. In the presence of ACMSD, ACMS is converted to AMS, a benign catabolite. ACMSD ultimately controls the metabolic fate of tryptophan catabolism along the kynurenine pathway.',NULL,NULL,NULL,NULL,NULL),(12687,'UniProt Function',NULL,15263,NULL,'Acyl-CoA dehydrogenase specific for acyl chain lengths of 4 to 16 that catalyzes the initial step of fatty acid beta-oxidation. Utilizes the electron transfer flavoprotein (ETF) as an electron acceptor to transfer electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).',NULL,NULL,NULL,NULL,NULL),(12688,'UniProt Function',NULL,15264,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(12689,'UniProt Function',NULL,15265,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(12690,'UniProt Function',NULL,15266,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(12691,'UniProt Function',NULL,15267,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is blocked by alpha-bungarotoxin.',NULL,NULL,NULL,NULL,NULL),(12692,'UniProt Function',NULL,15268,NULL,'Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates.',NULL,NULL,NULL,NULL,NULL),(12693,'UniProt Function',NULL,15269,NULL,'Has acyl-CoA thioesterase activity towards long-chain (C16 and C18) fatty acyl-CoA substrates, with a preference for linoleoyl-CoA and other unsaturated long-chain fatty acid-CoA esters. Plays an important role in mitochondrial fatty acid metabolism, and in remodeling of the mitochondrial lipid cardiolipin. Required for normal mitochondrial function.',NULL,NULL,NULL,NULL,NULL),(12694,'UniProt Function',NULL,15270,NULL,'Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses palmitoleate, oleate and linoleate.',NULL,NULL,NULL,NULL,NULL),(12695,'UniProt Function',NULL,15271,NULL,'Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(12696,'UniProt Function',NULL,15272,NULL,'On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(12697,'UniProt Function',NULL,15273,NULL,'Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity).',NULL,NULL,NULL,NULL,NULL),(12698,'UniProt Function',NULL,15274,NULL,'GTPase-activating protein for the ADP ribosylation factor family (Probable). Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4).',NULL,NULL,NULL,NULL,NULL),(12699,'UniProt Function',NULL,15277,NULL,'Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. The beta-2-adrenergic receptor binds epinephrine with an approximately 30-fold greater affinity than it does norepinephrine.',NULL,NULL,NULL,NULL,NULL),(12700,'UniProt Function',NULL,15278,NULL,'Cofactor for the transcription factor TCF7 (PubMed:26079538). Involved in regulation of lymphoid development by driving multipotent hematopoietic progenitor cells towards a T cell fate (PubMed:21715312).',NULL,NULL,NULL,NULL,NULL),(12701,'UniProt Function',NULL,15279,NULL,'Isoform 1: As a positive regulator of collagen fibrillogenesis, it is probably involved in the organization and remodeling of the extracellualr matrix.',NULL,NULL,NULL,NULL,NULL),(12702,'UniProt Function',NULL,15279,NULL,'Isoform 2: May positively regulate MAP-kinase activity in adipocytes, leading to enhanced adipocyte proliferation and reduced adipocyte differentiation. May also positively regulate NF-kappa-B activity in macrophages by promoting the phosphorylation and subsequent degradation of I-kappa-B-alpha (NFKBIA), leading to enhanced macrophage inflammatory responsiveness. Can act as a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(12703,'UniProt Function',NULL,15280,NULL,'Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form (PubMed:9034191). Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein (PubMed:12441351). Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT) (PubMed:24226769). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843).',NULL,NULL,NULL,NULL,NULL),(12704,'UniProt Function',NULL,15281,NULL,'Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis.',NULL,NULL,NULL,NULL,NULL),(12705,'UniProt Function',NULL,15282,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12706,'UniProt Function',NULL,15284,NULL,'Plays a role in the normal development of the peripheral and central nervous system.',NULL,NULL,NULL,NULL,NULL),(12707,'UniProt Function',NULL,15285,NULL,'High-capacity urate exporter functioning in both renal and extrarenal urate excretion. Plays a role in porphyrin homeostasis as it is able to mediates the export of protoporhyrin IX (PPIX) both from mitochondria to cytosol and from cytosol to extracellular space, and cellular export of hemin, and heme. Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. Implicated in the efflux of numerous drugs and xenobiotics: mitoxantrone, the photosensitizer pheophorbide, camptothecin, methotrexate, azidothymidine (AZT), and the anthracyclines daunorubicin and doxorubicin.',NULL,NULL,NULL,NULL,NULL),(12708,'UniProt Function',NULL,15286,NULL,'Probable C to U editing enzyme whose physiological substrate is not yet known. Does not display detectable apoB mRNA editing. Has a low intrinsic cytidine deaminase activity. May play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation.',NULL,NULL,NULL,NULL,NULL),(12709,'UniProt Function',NULL,15288,NULL,'Hydrolyzes fatty acids from S-acylated cysteine residues in proteins (PubMed:26701913). Has depalmitoylating activity towards NRAS (PubMed:26701913). Has depalmitoylating activity towards DLG4/PSD95 (PubMed:26701913). May have depalmitoylating activity towards MAP6 (By similarity).',NULL,NULL,NULL,NULL,NULL),(12710,'UniProt Function',NULL,15290,NULL,'Has very high activity toward isobutyryl-CoA. Is an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Plays a role in transcriptional coactivation within the ARC complex.',NULL,NULL,NULL,NULL,NULL),(12711,'UniProt Function',NULL,15292,NULL,'Hydrolyzes acetyl-CoA to acetate and CoA.',NULL,NULL,NULL,NULL,NULL),(12712,'UniProt Function',NULL,15293,NULL,'May be involved in packaging and condensation of the acrosin zymogen in the acrosomal matrix via its association with proacrosin.',NULL,NULL,NULL,NULL,NULL),(12713,'UniProt Function',NULL,15294,NULL,'This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins.',NULL,NULL,NULL,NULL,NULL),(12714,'UniProt Function',NULL,15295,NULL,'AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive.',NULL,NULL,NULL,NULL,NULL),(12715,'UniProt Function',NULL,15296,NULL,'Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis. Isoform 1 and isoform 2 display similar levels of kinase activity towards AP2M1. Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes. Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes. Binds to and stabilizes the activated form of NOTCH1, increases its localization in endosomes and regulates its transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(12716,'UniProt Function',NULL,15297,NULL,'Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Beta non-catalytic subunit acts as a scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1, PRKAG2 or PRKAG3).',NULL,NULL,NULL,NULL,NULL),(12717,'UniProt Function',NULL,15298,NULL,'Probable transporter which may play a role in macrophage lipid homeostasis.',NULL,NULL,NULL,NULL,NULL),(12718,'UniProt Function',NULL,15299,NULL,'Sodium-dependent amino acids transporter that has a broad substrate specificity, with a preference for zwitterionic amino acids. It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and aromatic amino acids, and excludes methylated, anionic, and cationic amino acids (PubMed:8702519, PubMed:29872227). Through binding of the fusogenic protein syncytin-1/ERVW-1 may mediate trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development (PubMed:10708449, PubMed:23492904).',NULL,NULL,NULL,NULL,NULL),(12719,'UniProt Function',NULL,15299,NULL,'(Microbial infection) Acts as a cell surface receptor for Feline endogenous virus RD114.',NULL,NULL,NULL,NULL,NULL),(12720,'UniProt Function',NULL,15299,NULL,'(Microbial infection) Acts as a cell surface receptor for Baboon M7 endogenous virus.',NULL,NULL,NULL,NULL,NULL),(12721,'UniProt Function',NULL,15299,NULL,'(Microbial infection) Acts as a cell surface receptor for type D simian retroviruses.',NULL,NULL,NULL,NULL,NULL),(12722,'UniProt Function',NULL,15301,NULL,'Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N-acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis. Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains. Shows no significant activity towards other lysophospholipids, including lysophosphatidylcholine, lysophosphatidylethanolamine and lysophosphatidylserine (By similarity).',NULL,NULL,NULL,NULL,NULL),(12723,'UniProt Function',NULL,15302,NULL,'GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6).',NULL,NULL,NULL,NULL,NULL),(12724,'UniProt Function',NULL,15303,NULL,'ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides with an optimum of 23-mers. Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal positions whereas negatively charged residues as well as asparagine and methionine are not favored.',NULL,NULL,NULL,NULL,NULL),(12725,'UniProt Function',NULL,15304,NULL,'Non-receptor tyrosine-protein and serine/threonine-protein kinase that is implicated in cell spreading and migration, cell survival, cell growth and proliferation. Transduces extracellular signals to cytosolic and nuclear effectors. Phosphorylates AKT1, AR, MCF2, WASL and WWOX. Implicated in trafficking and clathrin-mediated endocytosis through binding to epidermal growth factor receptor (EGFR) and clathrin. Binds to both poly- and mono-ubiquitin and regulates ligand-induced degradation of EGFR, thereby contributing to the accumulation of EGFR at the limiting membrane of early endosomes. Downstream effector of CDC42 which mediates CDC42-dependent cell migration via phosphorylation of BCAR1. May be involved both in adult synaptic function and plasticity and in brain development. Activates AKT1 by phosphorylating it on \'Tyr-176\'. Phosphorylates AR on \'Tyr-267\' and \'Tyr-363\' thereby promoting its recruitment to androgen-responsive enhancers (AREs). Phosphorylates WWOX on \'Tyr-287\'. Phosphorylates MCF2, thereby enhancing its activity as a guanine nucleotide exchange factor (GEF) toward Rho family proteins. Contributes to the control of AXL receptor levels. Confers metastatic properties on cancer cells and promotes tumor growth by negatively regulating tumor suppressor such as WWOX and positively regulating pro-survival factors such as AKT1 and AR. Phosphorylates WASP (PubMed:20110370).',NULL,NULL,NULL,NULL,NULL),(12726,'UniProt Function',NULL,15305,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(12727,'UniProt Function',NULL,15306,NULL,'Iron sensor. Binds a 4Fe-4S cluster and functions as aconitase when cellular iron levels are high. Functions as mRNA binding protein that regulates uptake, sequestration and utilization of iron when cellular iron levels are low. Binds to iron-responsive elements (IRES) in target mRNA species when iron levels are low. Binding of a 4Fe-4S cluster precludes RNA binding.',NULL,NULL,NULL,NULL,NULL),(12728,'UniProt Function',NULL,15306,NULL,'Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.',NULL,NULL,NULL,NULL,NULL),(12729,'UniProt Function',NULL,15307,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(12730,'UniProt Function',NULL,15308,NULL,'Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.',NULL,NULL,NULL,NULL,NULL),(12731,'UniProt Function',NULL,15309,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.',NULL,NULL,NULL,NULL,NULL),(12732,'UniProt Function',NULL,15310,NULL,'Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol.',NULL,NULL,NULL,NULL,NULL),(12733,'UniProt Function',NULL,15311,NULL,'Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may protect against acoustic trauma.',NULL,NULL,NULL,NULL,NULL),(12734,'UniProt Function',NULL,15312,NULL,'The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover.',NULL,NULL,NULL,NULL,NULL),(12735,'UniProt Function',NULL,15313,NULL,'Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, and angiotensin II to angiotensin 1-7, a vasodilator. Also able to hydrolyze apelin-13 and dynorphin-13 with high efficiency. May be an important regulator of heart function. Plays an important role in amino acid transport by acting as binding partner of amino acid transporter SL6A19 in intestine, regulating trafficking, expression on the cell surface, and its catalytic activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(12736,'UniProt Function',NULL,15313,NULL,'(Microbial infection) Acts as a receptor for SARS coronavirus/SARS-CoV.',NULL,NULL,NULL,NULL,NULL),(12737,'UniProt Function',NULL,15313,NULL,'(Microbial infection) Acts as a receptor for Human coronavirus NL63/HCoV-NL63.',NULL,NULL,NULL,NULL,NULL),(12738,'UniProt Function',NULL,15314,NULL,'Oxidizes the CoA-esters of 2-methyl-branched fatty acids.',NULL,NULL,NULL,NULL,NULL),(12739,'UniProt Function',NULL,15315,NULL,'Negatively regulates the Hedgehog (SHH) signaling. Binds to the promoter of the SHH signaling mediator, GLI1, and inhibits its expression.',NULL,NULL,NULL,NULL,NULL),(12740,'UniProt Function',NULL,15316,NULL,'Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilized exclusively for the synthesis of the brain lipid.',NULL,NULL,NULL,NULL,NULL),(12741,'UniProt Function',NULL,15317,NULL,'Possible involvement in extravasation of leukocytes.',NULL,NULL,NULL,NULL,NULL),(12742,'UniProt Function',NULL,15318,NULL,'Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity).',NULL,NULL,NULL,NULL,NULL),(12743,'UniProt Function',NULL,15320,NULL,'Acts as an activator of serum response factor (SRF)-dependent transcription possibly by inducing nuclear translocation of MKL1 or MKL2 and through a mechanism requiring Rho-actin signaling.',NULL,NULL,NULL,NULL,NULL),(12744,'UniProt Function',NULL,15321,NULL,'Binds medium- and long-chain acyl-CoA esters.',NULL,NULL,NULL,NULL,NULL),(12745,'UniProt Function',NULL,15322,NULL,'Required for mitochondrial complex I assembly (PubMed:20816094, PubMed:24158852). Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more active on palmitoyl-CoA than on stearoyl-CoA. However, it does not play a primary role in long-chain fatty acid oxidation in vivo (PubMed:20816094, PubMed:24158852). Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0).',NULL,NULL,NULL,NULL,NULL),(12746,'UniProt Function',NULL,15323,NULL,'Acyl-CoA dehydrogenase only active with R- and S-2-methyl-C15-CoA.',NULL,NULL,NULL,NULL,NULL),(12747,'UniProt Function',NULL,15324,NULL,'Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 8.0. Has a highly restricted substrate specificity for the natural stereoisomer of ceramide with D-erythro-sphingosine but not D-ribo-phytosphingosine or D-erythro-dihydrosphingosine as a backbone. May have a role in regulating the levels of bioactive lipids ceramide and sphingosine 1-phosphate, as well as complex sphingolipids (By similarity).',NULL,NULL,NULL,NULL,NULL),(12748,'UniProt Function',NULL,15325,NULL,'The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover.',NULL,NULL,NULL,NULL,NULL),(12749,'UniProt Function',NULL,15326,NULL,'Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active on long chain acyl-CoAs.',NULL,NULL,NULL,NULL,NULL),(12750,'UniProt Function',NULL,15327,NULL,'This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to generate an N-acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala, Ac-Met and Ac-Ser.',NULL,NULL,NULL,NULL,NULL),(12751,'UniProt Function',NULL,15328,NULL,'Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(12752,'UniProt Function',NULL,15329,NULL,'Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome.',NULL,NULL,NULL,NULL,NULL),(12753,'UniProt Function',NULL,15330,NULL,'GTPase-activating protein for the ADP ribosylation factor family (Potential). Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Possesses a stoichiometry of two binding sites for InsP4 with identical affinity.',NULL,NULL,NULL,NULL,NULL),(12754,'UniProt Function',NULL,15331,NULL,'ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11138003, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11138003, PubMed:15054092). The heterodimer with ABCG8 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356).',NULL,NULL,NULL,NULL,NULL),(12755,'UniProt Function',NULL,15332,NULL,'Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets; ACIN1 confers RNA-binding to the complex. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. Induces apoptotic chromatin condensation after activation by CASP3. Regulates cyclin A1, but not cyclin A2, expression in leukemia cells.',NULL,NULL,NULL,NULL,NULL),(12756,'UniProt Function',NULL,15333,NULL,'Acyl-coenzyme A (acyl-CoA) thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH (PubMed:9299485, PubMed:9153233, PubMed:15194431). Competes with bile acid CoA:amino acid N-acyltransferase (BAAT) for bile acid-CoA substrate (such as chenodeoxycholoyl-CoA). Shows a preference for medium-length fatty acyl-CoAs (C2 to C20) (PubMed:9299485, PubMed:9153233). Inactive towards substrates with more than C20 aliphatic chains (PubMed:9153233). Involved in the metabolic regulation of peroxisome proliferation (PubMed:15194431).',NULL,NULL,NULL,NULL,NULL),(12757,'UniProt Function',NULL,15333,NULL,'(Microbial infection) May mediate Nef-induced down-regulation of CD4 cell-surface expression (PubMed:9153233).',NULL,NULL,NULL,NULL,NULL),(12758,'UniProt Function',NULL,15334,NULL,'Its physiological role is not yet clear.',NULL,NULL,NULL,NULL,NULL),(12759,'UniProt Function',NULL,15335,NULL,'May be involved in spermatogenesis and fertilization. Seems to be a non catalytic metalloprotease-like protein.',NULL,NULL,NULL,NULL,NULL),(12760,'UniProt Function',NULL,15336,NULL,'Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(12761,'UniProt Function',NULL,15339,NULL,'Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis (PubMed:18606822). May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2 (PubMed:16679289). Involved in keratinocyte differentiation (PubMed:18832586). Regulates lipid droplet fusion (By similarity).',NULL,NULL,NULL,NULL,NULL),(12762,'UniProt Function',NULL,15340,NULL,'Hydrolyzes fatty acids from S-acylated cysteine residues in proteins (PubMed:26701913). Has depalmitoylating activity towards DLG4/PSD95 (PubMed:26701913). Has depalmitoylating activity towards GAP43 (By similarity). Has depalmitoylating activity towards MAP6 (By similarity). Has depalmitoylating activity towards NRAS (PubMed:26701913).',NULL,NULL,NULL,NULL,NULL),(12763,'UniProt Function',NULL,15341,NULL,'Binds medium- and long-chain acyl-CoA esters and may function as an intracellular carrier of acyl-CoA esters.',NULL,NULL,NULL,NULL,NULL),(12764,'UniProt Function',NULL,15342,NULL,'Catalyzes the ATP-dependent carboxylation of acetyl-CoA to malonyl-CoA. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase. Involved in inhibition of fatty acid and glucose oxidation and enhancement of fat storage (By similarity). May play a role in regulation of mitochondrial fatty acid oxidation through malonyl-CoA-dependent inhibition of carnitine palmitoyltransferase 1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(12765,'UniProt Function',NULL,15343,NULL,'Component of the BRISC complex, a multiprotein complex that specifically cleaves \'Lys-63\'-linked polyubiquitin, leaving the last ubiquitin chain attached to its substrates (PubMed:19214193, PubMed:20032457, PubMed:20656690, PubMed:24075985). May act as a central scaffold protein that assembles the various components of the BRISC complex and retains them in the cytoplasm (PubMed:20656690). Plays a role in regulating the onset of apoptosis via its role in modulating \'Lys-63\'-linked ubiquitination of target proteins (By similarity). Required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activities by enhancing its stability and cell surface expression (PubMed:24075985, PubMed:26344097). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). Required for normal induction of p53/TP53 in response to DNA damage (PubMed:25283148). Independent of the BRISC complex, promotes interaction between USP7 and p53/TP53, and thereby promotes deubiquitination of p53/TP53, preventing its degradation and resulting in increased p53/TP53-mediated transcription regulation and p53/TP53-dependent apoptosis in response to DNA damage (PubMed:25283148).',NULL,NULL,NULL,NULL,NULL),(12766,'UniProt Function',NULL,15344,NULL,'GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them.',NULL,NULL,NULL,NULL,NULL),(12767,'UniProt Function',NULL,15345,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(12768,'UniProt Function',NULL,15348,NULL,'Putative nucleoside deaminase. May catalyze the hydrolytic deamination of adenosine or some similar substrate and play a role in purine metabolism (By similarity).',NULL,NULL,NULL,NULL,NULL),(12769,'UniProt Function',NULL,15349,NULL,'Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Participates in signaling cascades triggered by odorant receptors via its function in cAMP biosynthesis. Required for the perception of odorants. Required for normal sperm motility and normal male fertility. Plays a role in regulating insulin levels and body fat accumulation in response to a high fat diet.',NULL,NULL,NULL,NULL,NULL),(12770,'UniProt Function',NULL,15350,NULL,'Activates acetate so that it can be used for lipid synthesis or for energy generation.',NULL,NULL,NULL,NULL,NULL),(12771,'UniProt Function',NULL,15351,NULL,'DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. Exhibits potent antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single-or double-stranded RNA. Exhibits antiviral activity also against simian immunodeficiency viruses (SIVs), hepatitis B virus (HBV), equine infectious anemia virus (EIAV), xenotropic MuLV-related virus (XMRV) and simian foamy virus (SFV). May inhibit the mobility of LTR and non-LTR retrotransposons.',NULL,NULL,NULL,NULL,NULL),(12772,'UniProt Function',NULL,15352,NULL,'Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins.',NULL,NULL,NULL,NULL,NULL),(12773,'UniProt Function',NULL,15353,NULL,'The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is inhibition of adenylate cyclase.',NULL,NULL,NULL,NULL,NULL),(12774,'UniProt Function',NULL,15354,NULL,'Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding induces a conformation change that leads to the opening of an ion-conducting channel across the plasma membrane (PubMed:11752216, PubMed:25282151). The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane (PubMed:11752216, PubMed:25282151). In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may protect against acoustic trauma. May also regulate keratinocyte adhesion (PubMed:11021840).',NULL,NULL,NULL,NULL,NULL),(12775,'UniProt Function',NULL,15355,NULL,'Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. Isoform 1 shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length. Isoform 2 is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Isoform 2 is twice as active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA.',NULL,NULL,NULL,NULL,NULL),(12776,'UniProt Function',NULL,15356,NULL,'Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity). Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain (PubMed:27626371).',NULL,NULL,NULL,NULL,NULL),(12777,'UniProt Function',NULL,15357,NULL,'Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(12778,'UniProt Function',NULL,15358,NULL,'Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(12779,'UniProt Function',NULL,15359,NULL,'Acyl-CoA synthetases (ACSL) activate long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. ACSL5 may activate fatty acids from exogenous sources for the synthesis of triacylglycerol destined for intracellular storage (By similarity). Utilizes a wide range of saturated fatty acids with a preference for C16-C18 unsaturated fatty acids (By similarity). It was suggested that it may also stimulate fatty acid oxidation (By similarity). At the villus tip of the crypt-villus axis of the small intestine may sensitize epithelial cells to apoptosis specifically triggered by the death ligand TRAIL. May have a role in the survival of glioma cells.',NULL,NULL,NULL,NULL,NULL),(12780,'UniProt Function',NULL,15360,NULL,'Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol.',NULL,NULL,NULL,NULL,NULL),(12781,'UniProt Function',NULL,15362,NULL,'May play a role in sperm development and fertilization This is a non-catalytic metalloprotease-like protein.',NULL,NULL,NULL,NULL,NULL),(12782,'UniProt Function',NULL,15363,NULL,'Catalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in the biosynthesis of ether phospholipids.',NULL,NULL,NULL,NULL,NULL),(12783,'UniProt Function',NULL,15364,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12784,'UniProt Function',NULL,15365,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12785,'UniProt Function',NULL,15366,NULL,'The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. The PP2A-PPP2R5C holoenzyme may specifically dephosphorylate and activate TP53 and play a role in DNA damage-induced inhibition of cell proliferation. PP2A-PPP2R5C may also regulate the ERK signaling pathway through ERK dephosphorylation.',NULL,NULL,NULL,NULL,NULL),(12786,'UniProt Function',NULL,15367,NULL,'May play a role in autophagy.',NULL,NULL,NULL,NULL,NULL),(12787,'UniProt Function',NULL,15368,NULL,'This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel.',NULL,NULL,NULL,NULL,NULL),(12788,'UniProt Function',NULL,15369,NULL,'This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase.',NULL,NULL,NULL,NULL,NULL),(12789,'UniProt Function',NULL,15370,NULL,'Antimutagenic (PubMed:8226881, PubMed:7713500, PubMed:10608900). Plays a redundant role in sanitizing oxidized nucleotide pools, such as 8-oxo-dGTP pools (PubMed:28679043). Acts as a sanitizing enzyme for oxidized nucleotide pools, thus suppressing cell dysfunction and death induced by oxidative stress (PubMed:12857738, PubMed:24695224, PubMed:24695225). Hydrolyzes 8-oxo-dGTP, 8-oxo-dATP and 2-OH-dATP, thus preventing misincorporation of oxidized purine nucleoside triphosphates into DNA and subsequently preventing A:T to C:G and G:C to T:A transversions (PubMed:8226881, PubMed:10373420, PubMed:10608900, PubMed:11756418, PubMed:12857738, PubMed:16607562, PubMed:24695224, PubMed:24695225, PubMed:26999531, PubMed:28035004). Able to hydrolyze also the corresponding ribonucleotides, 2-OH-ATP, 8-oxo-GTP and 8-oxo-ATP (PubMed:10373420, PubMed:11139615). Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(12790,'UniProt Function',NULL,15371,NULL,'May play a role in monocyte differentiation and lipid homeostasis.',NULL,NULL,NULL,NULL,NULL),(12791,'UniProt Function',NULL,15372,NULL,'AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive.',NULL,NULL,NULL,NULL,NULL),(12792,'UniProt Function',NULL,15373,NULL,'May function as a general inhibitor of the histone deacetylase HDAC1. Binding to the pocket region of RB1 may displace HDAC1 from RB1/E2F complexes, leading to activation of E2F target genes and cell cycle progression. Conversely, displacement of HDAC1 from SP1 bound to the CDKN1A promoter leads to increased expression of this CDK inhibitor and blocks cell cycle progression. Also antagonizes PAWR mediated induction of aberrant amyloid peptide production in Alzheimer disease (presenile and senile dementia), although the molecular basis for this phenomenon has not been described to date.',NULL,NULL,NULL,NULL,NULL),(12793,'UniProt Function',NULL,15374,NULL,'Progesterone-dependent acylglycerol lipase that catalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG) from cell membrane (PubMed:26989199). Acts as a progesterone receptor: progesterone-binding activates the acylglycerol lipase activity, mediating degradation of 1-arachidonoylglycerol (1AG) and 2-arachidonoylglycerol (2AG) to glycerol and arachidonic acid (AA) (PubMed:26989199). Plays a key role in sperm capacitation in response to progesterone by mediating degradation of 2AG, an inhibitor of the sperm calcium channel CatSper, leading to calcium influx via CatSper and sperm activation (PubMed:26989199). May also play a role in smooth muscle cells migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(12794,'UniProt Function',NULL,15375,NULL,'DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single-or double-stranded RNA. Exhibits antiviral activity against simian immunodeficiency virus (SIV), hepatitis B virus (HBV), herpes simplex virus 1 (HHV-1) and Epstein-Barr virus (EBV) and may inhibit the mobility of LTR and non-LTR retrotransposons. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation.',NULL,NULL,NULL,NULL,NULL),(12795,'UniProt Function',NULL,15377,NULL,'GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface. Required for regulated export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration.',NULL,NULL,NULL,NULL,NULL),(12796,'UniProt Function',NULL,15378,NULL,'Has greatest activity toward short branched chain acyl-CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl-CoA as substrate and may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent.',NULL,NULL,NULL,NULL,NULL),(12797,'UniProt Function',NULL,15379,NULL,'The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is adenylate cyclase inhibition. Signaling promotes phospholipase C activity, leading to the release of inositol trisphosphate (IP3); this then triggers calcium ion release into the cytosol.',NULL,NULL,NULL,NULL,NULL),(12798,'UniProt Function',NULL,15380,NULL,'Non-receptor tyrosine-protein kinase that plays an ABL1-overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like MYH10 (involved in movement); CTTN (involved in signaling); or TUBA1 and TUBB (microtubule subunits). Binds directly F-actin and regulates actin cytoskeletal structure through its F-actin-bundling activity. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as CRK, CRKL, DOK1 or ARHGAP35. Adhesion-dependent phosphorylation of ARHGAP35 promotes its association with RASA1, resulting in recruitment of ARHGAP35 to the cell periphery where it inhibits RHO. Phosphorylates multiple receptor tyrosine kinases like PDGFRB and other substrates which are involved in endocytosis regulation such as RIN1. In brain, may regulate neurotransmission by phosphorylating proteins at the synapse. ABL2 acts also as a regulator of multiple pathological signaling cascades during infection. Pathogens can highjack ABL2 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1.',NULL,NULL,NULL,NULL,NULL),(12799,'UniProt Function',NULL,15381,NULL,'Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends. Without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodimer enhances telomere elongation by recruiting telomerase to telomeres and increasing its processivity. May play a role in organogenesis.',NULL,NULL,NULL,NULL,NULL),(12800,'UniProt Function',NULL,15382,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodiun ions.',NULL,NULL,NULL,NULL,NULL),(12801,'UniProt Function',NULL,15383,NULL,'Hydrolyzes only phytoceramide into phytosphingosine and free fatty acid. Does not have reverse activity.',NULL,NULL,NULL,NULL,NULL),(12802,'UniProt Function',NULL,15384,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(12803,'UniProt Function',NULL,15385,NULL,'Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA.',NULL,NULL,NULL,NULL,NULL),(12804,'UniProt Function',NULL,15387,NULL,'Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins.',NULL,NULL,NULL,NULL,NULL),(12805,'UniProt Function',NULL,15388,NULL,'Could function in retinol oxidation for the synthesis of retinoic acid, a hormone important for cellular differentiation. Medium-chain (octanol) and aromatic (m-nitrobenzaldehyde) compounds are the best substrates. Ethanol is not a good substrate but at the high ethanol concentrations reached in the digestive tract, it plays a role in the ethanol oxidation and contributes to the first pass ethanol metabolism.',NULL,NULL,NULL,NULL,NULL),(12806,'UniProt Function',NULL,15389,NULL,'Plays a role in lysosomal amyloid precursor protein (APP) processing by cleaving and activating CTSD/cathepsin D which leads to APP degradation (PubMed:27333034).',NULL,NULL,NULL,NULL,NULL),(12807,'UniProt Function',NULL,15390,NULL,'Catalyzes the formation of cAMP in response to calcium entry leadings to cAMP signaling activation that affect processes suche as synaptic plasticity and insulin secretion. Plays a role in many brain functions, such as learning, memory, drug addiction, and anxiety modulation through regulation of synaptic plasticity by modulating long-term memory and long-term potentiation (LTP) through CREB transcription factor activity modulation. Plays a central role in insulin secretion by controlling glucose homeostasis through glucagon-like peptide 1 and glucose signaling pathway and maintains insulin secretion through calcium-dependent PKA activation leading to vesicle pool replenishment. Also, allows PTGER3 to induce potentiation of PTGER4-mediated PLA2 secretion by switching from a negative to a positive regulation, during the IL1B induced-dedifferentiation of smooth muscle cells.',NULL,NULL,NULL,NULL,NULL),(12808,'UniProt Function',NULL,15391,NULL,'Hydrolyzes ADP-ribose, IDP-ribose, CDP-glycerol, CDP-choline and CDP-ethanolamine, but not other non-reducing ADP-sugars or CDP-glucose. May be involved in immune cell signaling as suggested by the second-messenger role of ADP-ribose, which activates TRPM2 as a mediator of oxidative/nitrosative stress (By similarity).',NULL,NULL,NULL,NULL,NULL),(12809,'UniProt Function',NULL,15392,NULL,'Class-III ADH is remarkably ineffective in oxidizing ethanol, but it readily catalyzes the oxidation of long-chain primary alcohols and the oxidation of S-(hydroxymethyl) glutathione.',NULL,NULL,NULL,NULL,NULL),(12810,'UniProt Function',NULL,15393,NULL,'Inter-alpha-trypsin inhibitor inhibits trypsin, plasmin, and lysosomal granulocytic elastase. Inhibits calcium oxalate crystallization.',NULL,NULL,NULL,NULL,NULL),(12811,'UniProt Function',NULL,15393,NULL,'Trypstatin is a trypsin inhibitor.',NULL,NULL,NULL,NULL,NULL),(12812,'UniProt Function',NULL,15394,NULL,'Necessary for efficient absorption of vitamin B12 (PubMed:12590260, PubMed:14576052). Required for normal CUBN-mediated protein transport in the kidney. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm (By similarity).',NULL,NULL,NULL,NULL,NULL),(12813,'UniProt Function',NULL,15398,NULL,'May be involved in the energy metabolism. Could be a molecular link between myofibrillar stretch-induced signaling pathways and muscle gene expression.',NULL,NULL,NULL,NULL,NULL),(12814,'UniProt Function',NULL,15399,NULL,'May regulate the interaction between the 3M complex and the histone deacetylases HDAC4 and HDAC5 (PubMed:25752541). May also regulate LRP2/megalin (By similarity).',NULL,NULL,NULL,NULL,NULL),(12815,'UniProt Function',NULL,15400,NULL,'Asymmetrically hydrolyzes Ap4A to yield AMP and ATP. Plays a major role in maintaining homeostasis.',NULL,NULL,NULL,NULL,NULL),(12816,'UniProt Function',NULL,15401,NULL,'Endogenous ligand for the apelin receptor (APLNR) (PubMed:10525157). Drives internalization of the apelin receptor (By similarity). Apelin-36 dissociates more hardly than (pyroglu)apelin-13 from APLNR (By similarity). Hormone involved in the regulation of cardiac precursor cell movements during gastrulation and heart morphogenesis (By similarity). Has an inhibitory effect on cytokine production in response to T-cell receptor/CD3 cross-linking; the oral intake of apelin in the colostrum and the milk might therefore modulate immune responses in neonates (By similarity). Plays a role in early coronary blood vessels formation (By similarity). Mediates myocardial contractility in an ERK1/2-dependent manner (By similarity). May also have a role in the central control of body fluid homeostasis by influencing vasopressin release and drinking behavior (By similarity).',NULL,NULL,NULL,NULL,NULL),(12817,'UniProt Function',NULL,15401,NULL,'(Microbial infection) Endogenous ligand for the apelin receptor (APLNR), an alternative coreceptor with CD4 for HIV-1 infection (PubMed:11090199). Inhibits HIV-1 entry in cells coexpressing CD4 and APLNR (PubMed:11090199). Apelin-36 has a greater inhibitory activity on HIV infection than other synthetic apelin derivatives (PubMed:11090199).',NULL,NULL,NULL,NULL,NULL),(12818,'UniProt Function',NULL,15402,NULL,'Forms a channel for water and glycerol.',NULL,NULL,NULL,NULL,NULL),(12819,'UniProt Function',NULL,15403,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:25599396, PubMed:28502770, PubMed:28076346). Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis (PubMed:16949364). Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly (PubMed:16949364). May act by helping the folding of the snoRNA sequence. Binds to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing (PubMed:16949364). Has ATP-dependent RNA helicase activity and can unwind double-stranded RNA molecules with a 3\' overhang (in vitro) (PubMed:25599396).',NULL,NULL,NULL,NULL,NULL),(12820,'UniProt Function',NULL,15404,NULL,'Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency (By similarity).',NULL,NULL,NULL,NULL,NULL),(12821,'UniProt Function',NULL,15405,NULL,'AMP deaminase plays a critical role in energy metabolism.',NULL,NULL,NULL,NULL,NULL),(12822,'UniProt Function',NULL,15407,NULL,'Could play pivotal roles in cell cycle and DNA regulation (PubMed:19150984). Involved in innate immune defense against viruse by positively regulating the viral dsRNA receptors DDX58 and IFIH1 signaling pathways (PubMed:22328336). Involves in NOD2- and NOD1-mediated responses to bacteria suggesting a role in innate antibacterial immune pathways too (PubMed:23711367). Target of enterovirus 71 which is the major etiological agent of HFMD (hand, foot and mouth disease) (PubMed:17276651). Could play a central role for the formation and/or maintenance of the blood vessels of the circulation system (By similarity).',NULL,NULL,NULL,NULL,NULL),(12823,'UniProt Function',NULL,15408,NULL,'Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation.',NULL,NULL,NULL,NULL,NULL),(12824,'UniProt Function',NULL,15410,NULL,'Adaptins are components of the adapter complexes which link clathrin to receptors in coated vesicles. Clathrin-associated protein complexes are believed to interact with the cytoplasmic tails of membrane proteins, leading to their selection and concentration. Binding of AP180 to clathrin triskelia induces their assembly into 60-70 nm coats (By similarity).',NULL,NULL,NULL,NULL,NULL),(12825,'UniProt Function',NULL,15412,NULL,'Endonuclease that probably plays a role in the DNA damage response and DNA repair.',NULL,NULL,NULL,NULL,NULL),(12826,'UniProt Function',NULL,15413,NULL,'Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1.',NULL,NULL,NULL,NULL,NULL),(12827,'UniProt Function',NULL,15414,NULL,'Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization.',NULL,NULL,NULL,NULL,NULL),(12828,'UniProt Function',NULL,15415,NULL,'Inhibitor of phospholipase A2, also possesses anti-coagulant properties. Also cleaves the cyclic bond of inositol 1,2-cyclic phosphate to form inositol 1-phosphate.',NULL,NULL,NULL,NULL,NULL),(12829,'UniProt Function',NULL,15416,NULL,'Antiapoptotic factor that may have a role in protein assembly. Negatively regulates ACIN1. By binding to ACIN1, it suppresses ACIN1 cleavage from CASP3 and ACIN1-mediated DNA fragmentation. Also known to efficiently suppress E2F1-induced apoptosis. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs.',NULL,NULL,NULL,NULL,NULL),(12830,'UniProt Function',NULL,15417,NULL,'Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and a inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate) (By similarity). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages.',NULL,NULL,NULL,NULL,NULL),(12831,'UniProt Function',NULL,15418,NULL,'Macrophage receptor that binds to the apolipoprotein B48 (APOB) of dietary triglyceride (TG)-rich lipoproteins (TRL) or to a like domain of APOB in hypertriglyceridemic very low density lipoprotein (HTG-VLDL). Binds and internalizes TRL when out of the context of the macrophage. May provide essential lipids to reticuloendothelial cells. Could also be involved in foam cell formation with elevated TRL and remnant lipoprotein (RLP). Mediates the rapid high-affinity uptake of chylomicrons (CM), HTG-VLDL, and trypsinized (tryp) VLDL devoid of APOE in vitro in macrophages.',NULL,NULL,NULL,NULL,NULL),(12832,'UniProt Function',NULL,15419,NULL,'Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Acts on ARF6, RAC1, RHOA and CDC42. Plays a role in the internalization of anthrax toxin.',NULL,NULL,NULL,NULL,NULL),(12833,'UniProt Function',NULL,15421,NULL,'Zinc metalloprotease. Exhibits aminopeptidase activity against neurogranin in vitro. Does not hydrolyze angiotensin-2.',NULL,NULL,NULL,NULL,NULL),(12834,'UniProt Function',NULL,15422,NULL,'Zinc metalloprotease. Exhibits activity against angiotensin-3 in vitro. Does not hydrolyze either neurogranin or angiotensin-2.',NULL,NULL,NULL,NULL,NULL),(12835,'UniProt Function',NULL,15423,NULL,'Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions.',NULL,NULL,NULL,NULL,NULL),(12836,'UniProt Function',NULL,15423,NULL,'Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils.',NULL,NULL,NULL,NULL,NULL),(12837,'UniProt Function',NULL,15426,NULL,'Calcium-activated chloride channel (CaCC) which may play a role in olfactory signal transduction. Odorant molecules bind to odor-sensing receptors (OSRs), leading to an increase in calcium entry that activates CaCC current which amplifies the depolarization of the OSR cells, ANO2 seems to be the underlying chloride channel involved in this process. May mediate light perception amplification in retina.',NULL,NULL,NULL,NULL,NULL),(12838,'UniProt Function',NULL,15428,NULL,'Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter.',NULL,NULL,NULL,NULL,NULL),(12839,'UniProt Function',NULL,15429,NULL,'Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Specifically mediates the symmetric dimethylation of histone H4 \'Arg-3\' to form H4R3me2s. Plays a role in gene imprinting by being recruited by CTCFL at the H19 imprinted control region (ICR) and methylating histone H4 to form H4R3me2s, possibly leading to recruit DNA methyltransferases at these sites. May also play a role in embryonic stem cell (ESC) pluripotency. Also able to mediate the arginine methylation of histone H2A and myelin basic protein (MBP) in vitro; the relevance of such results is however unclear in vivo.',NULL,NULL,NULL,NULL,NULL),(12840,'UniProt Function',NULL,15430,NULL,'Arginine methyltransferase that methylates the guanidino nitrogens of arginyl residues in proteins such as STAT3, FBL, histone H4. Acts as a coactivator (with NCOA2) of the androgen receptor (AR)-mediated transactivation. Acts as a coactivator (with estrogen) of estrogen receptor (ER)-mediated transactivation. Enhances PGR, PPARG, RARA-mediated transactivation. May inhibit NF-kappa-B transcription and promote apoptosis. Represses E2F1 transcriptional activity (in a RB1-dependent manner). May be involved in growth regulation.',NULL,NULL,NULL,NULL,NULL),(12841,'UniProt Function',NULL,15431,NULL,'Together with the cullin protein ANAPC2, constitutes the catalytic component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains. May recruit the E2 ubiquitin-conjugating enzymes to the complex.',NULL,NULL,NULL,NULL,NULL),(12842,'UniProt Function',NULL,15432,NULL,'This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade.',NULL,NULL,NULL,NULL,NULL),(12843,'UniProt Function',NULL,15433,NULL,'Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility.',NULL,NULL,NULL,NULL,NULL),(12844,'UniProt Function',NULL,15434,NULL,'Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system.',NULL,NULL,NULL,NULL,NULL),(12845,'UniProt Function',NULL,15435,NULL,'Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2.',NULL,NULL,NULL,NULL,NULL),(12846,'UniProt Function',NULL,15436,NULL,'Promotes osteoblast cell differentiation and terminal mineralization. Plays a role in inducing the cell cycle arrest via inhibiting CCND1 expression in all-trans-retinoic acid (ATRA) signal pathway.',NULL,NULL,NULL,NULL,NULL),(12847,'UniProt Function',NULL,15437,NULL,'May be involved in the trafficking of signaling proteins to the cilia.',NULL,NULL,NULL,NULL,NULL),(12848,'UniProt Function',NULL,15439,NULL,'Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable).',NULL,NULL,NULL,NULL,NULL),(12849,'UniProt Function',NULL,15440,NULL,'Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552).',NULL,NULL,NULL,NULL,NULL),(12850,'UniProt Function',NULL,15441,NULL,'Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.',NULL,NULL,NULL,NULL,NULL),(12851,'UniProt Function',NULL,15442,NULL,'As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport.',NULL,NULL,NULL,NULL,NULL),(12852,'UniProt Function',NULL,15443,NULL,'As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862, it is required for efficient homologous recombination DNA double-strand break repair.',NULL,NULL,NULL,NULL,NULL),(12853,'UniProt Function',NULL,15444,NULL,'Required for renal function.',NULL,NULL,NULL,NULL,NULL),(12854,'UniProt Function',NULL,15445,NULL,'Receptor for apelin receptor early endogenous ligand (APELA) and apelin (APLN) hormones coupled to G proteins that inhibit adenylate cyclase activity (PubMed:11090199, PubMed:25639753, PubMed:28137936). Plays a key role in early development such as gastrulation, blood vessels formation and heart morphogenesis by acting as a receptor for APELA hormone (By similarity). May promote angioblast migration toward the embryonic midline, i.e. the position of the future vessel formation, during vasculogenesis (By similarity). Promotes sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coronary blood vessel development (By similarity). Plays also a role in various processes in adults such as regulation of blood vessel formation, blood pressure, heart contractility and heart failure (PubMed:25639753, PubMed:28137936).',NULL,NULL,NULL,NULL,NULL),(12855,'UniProt Function',NULL,15445,NULL,'(Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection; may be involved in the development of AIDS dementia (PubMed:11090199).',NULL,NULL,NULL,NULL,NULL),(12856,'UniProt Function',NULL,15446,NULL,'Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12297508, PubMed:12522139, PubMed:12763021, PubMed:12679784, PubMed:25043039, PubMed:26280335). Required for normal gamma-secretase assembly (PubMed:12522139, PubMed:12471034, PubMed:12763021, PubMed:19369254). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable).',NULL,NULL,NULL,NULL,NULL),(12857,'UniProt Function',NULL,15447,NULL,'Forms a water-specific channel. Implicated in the generation of saliva, tears, and pulmonary secretions. Required for TRPV4 activation by hypotonicity (PubMed:16571723). Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723).',NULL,NULL,NULL,NULL,NULL),(12858,'UniProt Function',NULL,15448,NULL,'Plays a central role in tight junction maintenance via the complex formed with ARHGAP17, which acts by regulating the uptake of polarity proteins at tight junctions. Appears to regulate endothelial cell migration and tube formation. May also play a role in the assembly of endothelial cell-cell junctions.',NULL,NULL,NULL,NULL,NULL),(12859,'UniProt Function',NULL,15449,NULL,'Implicated in a number of cellular processes, including proliferation, differentiation, caspase-dependent and caspase-independent apoptosis, suppression of transformation (tumor suppressor), inhibition of protein phosphatase 2A, regulation of mRNA trafficking and stability in association with ELAVL1, and inhibition of acetyltransferases as part of the INHAT (inhibitor of histone acetyltransferases) complex. Plays a role in E4F1-mediated transcriptional repression.',NULL,NULL,NULL,NULL,NULL),(12860,'UniProt Function',NULL,15450,NULL,'Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway.',NULL,NULL,NULL,NULL,NULL),(12861,'UniProt Function',NULL,15451,NULL,'Required to prevent the misactivation of serine (Ser) with tRNA(Ala) by promoting the hydrolysis of Ser-mischarged tRNA(Ala), thereby playing a role in translational fidelity. Binds directly to the catalytic domain of AARS/AlaRS and captures Ser that is misactivated by AARS/AlaRS, preventing the charging of Ser adenylates to tRNA(Ala) and precluding Ser misincorporation in nascent peptides.',NULL,NULL,NULL,NULL,NULL),(12862,'UniProt Function',NULL,15453,NULL,'Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1.',NULL,NULL,NULL,NULL,NULL),(12863,'UniProt Function',NULL,15454,NULL,'This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade.',NULL,NULL,NULL,NULL,NULL),(12864,'UniProt Function',NULL,15455,NULL,'Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.',NULL,NULL,NULL,NULL,NULL),(12865,'UniProt Function',NULL,15458,NULL,'S-adenosyl-L-methionine-dependent and membrane-associated arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and asymmetrical dimethylarginine (aDMA) in proteins such as NIFK, myelin basic protein, histone H4, H2A and H2A/H2B dimer (PubMed:16051612, PubMed:17925405, PubMed:26876602, PubMed:26529540). Able to mono- and dimethylate EWS protein; however its precise role toward EWS remains unclear as it still interacts with fully methylated EWS (PubMed:18320585).',NULL,NULL,NULL,NULL,NULL),(12866,'UniProt Function',NULL,15459,NULL,'Required for normal progression through mitosis. Involved in chromosome alignment and cytokinesis via regulation of microtubules polymerization.',NULL,NULL,NULL,NULL,NULL),(12867,'UniProt Function',NULL,15460,NULL,'Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). May also play a role in extracellular calcium homeostasis.',NULL,NULL,NULL,NULL,NULL),(12868,'UniProt Function',NULL,15461,NULL,'Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5\'-GCCNNNGGC-3\' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region.',NULL,NULL,NULL,NULL,NULL),(12869,'UniProt Function',NULL,15462,NULL,'Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. In the complex, plays a role in the release of the mitotic checkpoint complex (MCC) from the APC/C: not required for APC/C activity itself, but promotes the turnover of CDC20 and MCC on the APC/C, thereby participating in the responsiveness of the spindle assembly checkpoint. Also required for degradation of CDC20.',NULL,NULL,NULL,NULL,NULL),(12870,'UniProt Function',NULL,15463,NULL,'As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair.',NULL,NULL,NULL,NULL,NULL),(12871,'UniProt Function',NULL,15464,NULL,'May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA 5\'-GTCACATG-3\'(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in fibroblasts (By similarity).',NULL,NULL,NULL,NULL,NULL),(12872,'UniProt Function',NULL,15465,NULL,'May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver (By similarity).',NULL,NULL,NULL,NULL,NULL),(12873,'UniProt Function',NULL,15467,NULL,'Putative target protein of ADP-ribosylation factor. Involved in membrane ruffling.',NULL,NULL,NULL,NULL,NULL),(12874,'UniProt Function',NULL,15468,NULL,'Presumably involved in the processing and regular turnover of intracellular proteins. Catalyzes the removal of unsubstituted N-terminal amino acids from various peptides.',NULL,NULL,NULL,NULL,NULL),(12875,'UniProt Function',NULL,15469,NULL,'Together with the RING-H2 protein ANAPC11, constitutes the catalytic component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains. The CDC20-APC/C complex positively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. CDC20-APC/C-induced degradation of NEUROD2 drives presynaptic differentiation.',NULL,NULL,NULL,NULL,NULL),(12876,'UniProt Function',NULL,15471,NULL,'Involved in the degradation of heparan sulfate.',NULL,NULL,NULL,NULL,NULL),(12877,'UniProt Function',NULL,15473,NULL,'Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function.',NULL,NULL,NULL,NULL,NULL),(12878,'UniProt Function',NULL,15476,NULL,'Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells.',NULL,NULL,NULL,NULL,NULL),(12879,'UniProt Function',NULL,15477,NULL,'Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.',NULL,NULL,NULL,NULL,NULL),(12880,'UniProt Function',NULL,15477,NULL,'Isoform 3 can regulate global protein synthesis by altering nucleolar numbers.',NULL,NULL,NULL,NULL,NULL),(12881,'UniProt Function',NULL,15477,NULL,'Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing.',NULL,NULL,NULL,NULL,NULL),(12882,'UniProt Function',NULL,15479,NULL,'Induces HBG1 expression (PubMed:16131492, PubMed:11162141). May have a role in spermatogenesis where it promotes autophagy in response to serum starvation, via the NF-kappaB pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(12883,'UniProt Function',NULL,15480,NULL,'Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.',NULL,NULL,NULL,NULL,NULL),(12884,'UniProt Function',NULL,15482,NULL,'Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network.',NULL,NULL,NULL,NULL,NULL),(12885,'UniProt Function',NULL,15483,NULL,'Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(12886,'UniProt Function',NULL,15484,NULL,'May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles.',NULL,NULL,NULL,NULL,NULL),(12887,'UniProt Function',NULL,15485,NULL,'May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles.',NULL,NULL,NULL,NULL,NULL),(12888,'UniProt Function',NULL,15486,NULL,'Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 are DNA repair and redox regulation of transcriptional factors. Functions as a apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5\'-deoxyribose phosphate and 3\'-hydroxyl ends. Does also incise at AP sites in the DNA strand of DNA/RNA hybrids, single-stranded DNA regions of R-loop structures, and single-stranded RNA molecules. Has a 3\'-5\' exoribonuclease activity on mismatched deoxyribonucleotides at the 3\' termini of nicked or gapped DNA molecules during short-patch BER. Possesses a DNA 3\' phosphodiesterase activity capable of removing lesions (such as phosphoglycolate) blocking the 3\' side of DNA strand breaks. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation. Acts as a loading factor for POLB onto non-incised AP sites in DNA and stimulates the 5\'-terminal deoxyribose 5\'-phosphate (dRp) excision activity of POLB. Plays a role in the protection from granzymes-mediated cellular repair leading to cell death. Also involved in the DNA cleavage step of class switch recombination (CSR). On the other hand, APEX1 also exerts reversible nuclear redox activity to regulate DNA binding affinity and transcriptional activity of transcriptional factors by controlling the redox status of their DNA-binding domain, such as the FOS/JUN AP-1 complex after exposure to IR. Involved in calcium-dependent down-regulation of parathyroid hormone (PTH) expression by binding to negative calcium response elements (nCaREs). Together with HNRNPL or the dimer XRCC5/XRCC6, associates with nCaRE, acting as an activator of transcriptional repression. Stimulates the YBX1-mediated MDR1 promoter activity, when acetylated at Lys-6 and Lys-7, leading to drug resistance. Acts also as an endoribonuclease involved in the control of single-stranded RNA metabolism. Plays a role in regulating MYC mRNA turnover by preferentially cleaving in between UA and CA dinucleotides of the MYC coding region determinant (CRD). In association with NMD1, plays a role in the rRNA quality control process during cell cycle progression. Associates, together with YBX1, on the MDR1 promoter. Together with NPM1, associates with rRNA. Binds DNA and RNA.',NULL,NULL,NULL,NULL,NULL),(12889,'UniProt Function',NULL,15487,NULL,'Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.',NULL,NULL,NULL,NULL,NULL),(12890,'UniProt Function',NULL,15489,NULL,'Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity-dependent manner. Promotes the catalytic efficiency of SLC1A1/EAAC1 probably by reducing its interaction with ARL6IP5, a negative regulator of SLC1A1/EAAC1-mediated glutamate transport (By similarity). Plays a role in the formation and stabilization of endoplasmic reticulum tubules (PubMed:24262037). Negatively regulates apoptosis, possibly by modulating the activity of caspase-9 (CASP9). Inhibits cleavage of CASP9-dependent substrates and downstream markers of apoptosis but not CASP9 itself (PubMed:12754298). May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation (PubMed:10995579).',NULL,NULL,NULL,NULL,NULL),(12891,'UniProt Function',NULL,15490,NULL,'Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells.',NULL,NULL,NULL,NULL,NULL),(12892,'UniProt Function',NULL,15493,NULL,'Required for cytokinesis (PubMed:16040610). Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. Plays a role in bleb assembly during metaphase and anaphase of mitosis (PubMed:23870127). May play a significant role in podocyte cell migration (PubMed:24676636).',NULL,NULL,NULL,NULL,NULL),(12893,'UniProt Function',NULL,15494,NULL,'May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics (PubMed:16525121, PubMed:18477474). May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation (PubMed:23104059). Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the function seems to require its GEF activity, probably towards Rab21, and VAMP7 but not Rab32/38 (By similarity). Proposed to be involved in Golgi sorting of VAMP7 and transport of VAMP7 vesicles to the cell surface; the function seems to implicate kinesin heavy chain isoform 5 proteins, GOLGA4, RAB21 and MACF1 (PubMed:22705394). Required for the colocalization of VAMP7 and Rab21, probably on TGN sites (PubMed:19745841). Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with VPS29 (PubMed:24856514). Regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(12894,'UniProt Function',NULL,15495,NULL,'Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha. Selectively inhibits the phosphatase activity of PPP1C. Targets PPP1C to modulate HNRPK phosphorylation.',NULL,NULL,NULL,NULL,NULL),(12895,'UniProt Function',NULL,15496,NULL,'Necessary for cellular interactions with laminin and the extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(12896,'UniProt Function',NULL,15497,NULL,'Cardiac hormone which may function as a paracrine antifibrotic factor in the heart. Also plays a key role in cardiovascular homeostasis through natriuresis, diuresis, vasorelaxation, and inhibition of renin and aldosterone secretion. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3.',NULL,NULL,NULL,NULL,NULL),(12897,'UniProt Function',NULL,15498,NULL,'Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation (PubMed:15184363). Has a role in proliferation and development of cortical neural precursors (PubMed:25556659). May also regulate bone homeostasis (By similarity).',NULL,NULL,NULL,NULL,NULL),(12898,'UniProt Function',NULL,15499,NULL,'May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation.',NULL,NULL,NULL,NULL,NULL),(12899,'UniProt Function',NULL,15500,NULL,'Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (By similarity).',NULL,NULL,NULL,NULL,NULL),(12900,'UniProt Function',NULL,15501,NULL,'May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells.',NULL,NULL,NULL,NULL,NULL),(12901,'UniProt Function',NULL,15502,NULL,'Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity).',NULL,NULL,NULL,NULL,NULL),(12902,'UniProt Function',NULL,15503,NULL,'Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(12903,'UniProt Function',NULL,15504,NULL,'Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta.',NULL,NULL,NULL,NULL,NULL),(12904,'UniProt Function',NULL,15505,NULL,'Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5\'-GCCNNNGGC-3\' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-beta appears to be required for normal face and limb development and for proper terminal differentiation and function of renal tubular epithelia.',NULL,NULL,NULL,NULL,NULL),(12905,'UniProt Function',NULL,15506,NULL,'Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A.',NULL,NULL,NULL,NULL,NULL),(12906,'UniProt Function',NULL,15507,NULL,'Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum/sarcolemma sites. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate (PubMed:12571597). In the inner segment of rod photoreceptors, required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) (By similarity). Plays a role in endocytosis and intracellular protein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range motility of cells. Recruits RABGAP1L to (PI3P)-positive early endosomes, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(12907,'UniProt Function',NULL,15508,NULL,'Ubiquitin-binding protein that specifically recognizes and binds \'Lys-63\'-linked ubiquitin. Does not bind \'Lys-48\'-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane.',NULL,NULL,NULL,NULL,NULL),(12908,'UniProt Function',NULL,15511,NULL,'Regulator of different signaling pathways. Regulates EPHA8 receptor tyrosine kinase signaling to control cell migration and neurite retraction (By similarity).',NULL,NULL,NULL,NULL,NULL),(12909,'UniProt Function',NULL,15512,NULL,'Necessary for adaptor protein complex 1 (AP-1)-dependent transport between the trans-Golgi network and endosomes. Regulates the membrane association of AP1G1/gamma1-adaptin, one of the subunits of the AP-1 adaptor complex. The direct interaction with AP1G1/gamma1-adaptin attenuates the release of the AP-1 complex from membranes. Regulates endosomal membrane traffic via association with AP-1 and KIF5B thus linking kinesin-based plus-end-directed microtubular transport to AP-1-dependent membrane traffic. May act as effector of AP-1 in calcium-induced endo-lysosome secretion. Inhibits Arp2/3 complex function; negatively regulates cell spreading, size and motility via intracellular sequestration of the Arp2/3 complex.',NULL,NULL,NULL,NULL,NULL),(12910,'UniProt Function',NULL,15513,NULL,'Cell adhesion protein that participates in lymphocyte extravasation and recirculation by mediating the binding of lymphocytes to peripheral lymph node vascular endothelial cells in an L-selectin-independent fashion. Has semicarbazide-sensitive (SSAO) monoamine oxidase activity. May play a role in adipogenesis.',NULL,NULL,NULL,NULL,NULL),(12911,'UniProt Function',NULL,15514,NULL,'Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit. Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation of BAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitating nuclear envelope assembly. It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex. Involved in brain development (PubMed:25259927).',NULL,NULL,NULL,NULL,NULL),(12912,'UniProt Function',NULL,15515,NULL,'Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response. Inhibits PCSK9-enhanced LDLR degradation, probably reduces PCSK9 protein levels via a translational mechanism but also competes with LDLR for binding with PCSK9 (PubMed:18799458, PubMed:24808179, PubMed:22848640).',NULL,NULL,NULL,NULL,NULL),(12913,'UniProt Function',NULL,15516,NULL,'Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.',NULL,NULL,NULL,NULL,NULL),(12914,'UniProt Function',NULL,15517,NULL,'May be involved in angiogenesis. May play a role in activity-dependent changes of brain vasculature. May affect blood-brain permeability.',NULL,NULL,NULL,NULL,NULL),(12915,'UniProt Function',NULL,15518,NULL,'APOD occurs in the macromolecular complex with lecithin-cholesterol acyltransferase. It is probably involved in the transport and binding of bilin. Appears to be able to transport a variety of ligands in a number of different contexts.',NULL,NULL,NULL,NULL,NULL),(12916,'UniProt Function',NULL,15519,NULL,'Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(12917,'UniProt Function',NULL,15520,NULL,'May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles.',NULL,NULL,NULL,NULL,NULL),(12918,'UniProt Function',NULL,15521,NULL,'May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles.',NULL,NULL,NULL,NULL,NULL),(12919,'UniProt Function',NULL,15522,NULL,'May modulate the internalization of amyloid-beta precursor protein.',NULL,NULL,NULL,NULL,NULL),(12920,'UniProt Function',NULL,15523,NULL,'Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.',NULL,NULL,NULL,NULL,NULL),(12921,'UniProt Function',NULL,15524,NULL,'Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol before it is transferred to the nascent peptide (By similarity). Required for PKD1/Polycystin-1 maturation and localization to the plasma membrane of the primary cilia (By similarity).',NULL,NULL,NULL,NULL,NULL),(12922,'UniProt Function',NULL,15525,NULL,'Dioxygenase that mediates demethylation of actin monomethylated at \'Lys-84\' (K84me1), thereby acting as a regulator of actomyosin-processes. Demethylation of actin K84me1 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration. May be involved in transcription regulation.',NULL,NULL,NULL,NULL,NULL),(12923,'UniProt Function',NULL,15526,NULL,'Ligand for receptor tyrosine kinase LTK and perhaps receptor tyrosine kinase ALK; activation of ALK is reported conflictingly.',NULL,NULL,NULL,NULL,NULL),(12924,'UniProt Function',NULL,15527,NULL,'Negative regulator of the canonical Wnt signaling pathway involved in neuroectodermal patterning. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex.',NULL,NULL,NULL,NULL,NULL),(12925,'UniProt Function',NULL,15529,NULL,'Ubiquitin-binding protein that specifically recognizes and binds \'Lys-63\'-linked ubiquitin. Does not bind \'Lys-48\'-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane.',NULL,NULL,NULL,NULL,NULL),(12926,'UniProt Function',NULL,15531,NULL,'Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable).',NULL,NULL,NULL,NULL,NULL),(12927,'UniProt Function',NULL,15533,NULL,'Plays a role in the regulation of apoptosis. Mediates mitochondria-induced cell death in vascular smooth muscle cells through the release of cytochrome c from mitochondria, followed by the activation of the caspase cascade.',NULL,NULL,NULL,NULL,NULL),(12928,'UniProt Function',NULL,15535,NULL,'The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.',NULL,NULL,NULL,NULL,NULL),(12929,'UniProt Function',NULL,15536,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12930,'UniProt Function',NULL,15537,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12931,'UniProt Function',NULL,15538,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12932,'UniProt Function',NULL,15539,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12933,'UniProt Function',NULL,15540,NULL,'The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.',NULL,NULL,NULL,NULL,NULL),(12934,'UniProt Function',NULL,15541,NULL,'Is able to inhibit all four classes of proteinases by a unique \'trapping\' mechanism. This protein has a peptide stretch, called the \'bait region\' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase (By similarity). Displays inhibitory activity against chymotrypsin, papain, thermolysin, subtilisin A and, to a lesser extent, elastase but not trypsin. May play an important role during desquamation by inhibiting extracellular proteases.',NULL,NULL,NULL,NULL,NULL),(12935,'UniProt Function',NULL,15543,NULL,'G-protein coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:1330647, PubMed:18703043, PubMed:19057895). Also functions as a receptor for various drugs and psychoactive substances, including mescaline, psilocybin, 1-(2,5-dimethoxy-4-iodophenyl)-2-aminopropane (DOI) and lysergic acid diethylamide (LSD) (PubMed:28129538). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors (PubMed:28129538). Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways (PubMed:28129538). Signaling activates phospholipase C and a phosphatidylinositol-calcium second messenger system that modulates the activity of phosphatidylinositol 3-kinase and promotes the release of Ca(2+) ions from intracellular stores (PubMed:18703043, PubMed:28129538). Affects neural activity, perception, cognition and mood (PubMed:18297054). Plays a role in the regulation of behavior, including responses to anxiogenic situations and psychoactive substances. Plays a role in intestinal smooth muscle contraction, and may play a role in arterial vasoconstriction.',NULL,NULL,NULL,NULL,NULL),(12936,'UniProt Function',NULL,15543,NULL,'(Microbial infection) Acts as a receptor for human JC polyomavirus/JCPyV.',NULL,NULL,NULL,NULL,NULL),(12937,'UniProt Function',NULL,15544,NULL,'Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.',NULL,NULL,NULL,NULL,NULL),(12938,'UniProt Function',NULL,15545,NULL,'May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(12939,'UniProt Function',NULL,15546,NULL,'Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids.',NULL,NULL,NULL,NULL,NULL),(12940,'UniProt Function',NULL,15547,NULL,'May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm.',NULL,NULL,NULL,NULL,NULL),(12941,'UniProt Function',NULL,15549,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12942,'UniProt Function',NULL,15550,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12943,'UniProt Function',NULL,15551,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12944,'UniProt Function',NULL,15553,NULL,'The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. Within the PP2A holoenzyme complex, isoform 2 is required to promote proapoptotic activity (By similarity). Isoform 2 regulates neuronal survival through the mitochondrial fission and fusion balance (By similarity).',NULL,NULL,NULL,NULL,NULL),(12945,'UniProt Function',NULL,15554,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12946,'UniProt Function',NULL,15555,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12947,'UniProt Function',NULL,15557,NULL,'This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel.',NULL,NULL,NULL,NULL,NULL),(12948,'UniProt Function',NULL,15558,NULL,'Putative serine protease inhibitor.',NULL,NULL,NULL,NULL,NULL),(12949,'UniProt Function',NULL,15559,NULL,'Catalytic component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in the APOB mRNA. Also involved in CGA (Arg) to UGA (Stop) editing in the NF1 mRNA. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation.',NULL,NULL,NULL,NULL,NULL),(12950,'UniProt Function',NULL,15560,NULL,'Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.',NULL,NULL,NULL,NULL,NULL),(12951,'UniProt Function',NULL,15562,NULL,'Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin-induced promoter activities through AP1 and SRE. Mediates Rap1-induced adhesion.',NULL,NULL,NULL,NULL,NULL),(12952,'UniProt Function',NULL,15563,NULL,'DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. Exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA. Exhibits antiviral activity also against hepatitis B virus (HBV), equine infectious anemia virus (EIAV), xenotropic MuLV-related virus (XMRV) and simian foamy virus (SFV) and may inhibit the mobility of LTR and non-LTR retrotransposons. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation.',NULL,NULL,NULL,NULL,NULL),(12953,'UniProt Function',NULL,15564,NULL,'ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11452359, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11452359, PubMed:15054092). The heterodimer with ABCG5 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356).',NULL,NULL,NULL,NULL,NULL),(12954,'UniProt Function',NULL,15565,NULL,'Regulator of actin cytoskeleton dynamics underlying cell motility and adhesion. Functions as a component of the WAVE complex, which activates actin nucleating machinery Arp2/3 to drive lamellipodia formation (PubMed:21107423). Acts as regulator and substrate of nonreceptor tyrosine kinases ABL1 and ABL2 involved in processes linked to cell growth and differentiation. Positively regulates ABL1-mediated phosphorylation of ENAH, which is required for proper polymerization of nucleated actin filaments at the leading edge (PubMed:7590236, PubMed:8649853, PubMed:10498863). Contributes to the regulation of actin assembly at the tips of neuron projections. In particular, controls dendritic spine morphogenesis and may promote dendritic spine specification toward large mushroom-type spines known as repositories of memory in the brain (By similarity). In hippocampal neurons, may mediate actin-dependent BDNF-NTRK2 early endocytic trafficking that triggers dendrite outgrowth (By similarity). Participates in ocular lens morphogenesis, likely by regulating lamellipodia-driven adherens junction formation at the epithelial cell-secondary lens fiber interface (By similarity). Also required for nascent adherens junction assembly in epithelial cells (PubMed:15572692).',NULL,NULL,NULL,NULL,NULL),(12955,'UniProt Function',NULL,15566,NULL,'DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. The A3H-var/haplotype 2 exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA. Exhibits antiviral activity also against T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons.',NULL,NULL,NULL,NULL,NULL),(12956,'UniProt Function',NULL,15567,NULL,'Displays an antiviral effect against flaviviruses such as west Nile virus (WNV) in the presence of OAS1B.',NULL,NULL,NULL,NULL,NULL),(12957,'UniProt Function',NULL,15568,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodium ions.',NULL,NULL,NULL,NULL,NULL),(12958,'UniProt Function',NULL,15569,NULL,'Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negative regulator of osteogenesis. Blocks the nuclear translocation of the phosphorylated form (by AKT1) of SRPK2 and antagonizes its stimulatory effect on cyclin D1 expression resulting in blockage of neuronal apoptosis elicited by SRPK2. Negative regulator of signaling cascades that mediate activation of MAP kinases via AKAP13.',NULL,NULL,NULL,NULL,NULL),(12959,'UniProt Function',NULL,15570,NULL,'3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.',NULL,NULL,NULL,NULL,NULL),(12960,'UniProt Function',NULL,15571,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12961,'UniProt Function',NULL,15572,NULL,'Required for the function of light chain amino-acid transporters. Involved in sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan. Involved in guiding and targeting of LAT1 and LAT2 to the plasma membrane. When associated with SLC7A6 or SLC7A7 acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Required for normal and neoplastic cell growth. When associated with SLC7A5/LAT1, is also involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. When associated with SLC7A5 or SLC7A8, involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Together with ICAM1, regulates the transport activity LAT2 in polarized intestinal cells, by generating and delivering intracellular signals. When associated with SLC7A5, plays an important role in transporting L-leucine from the circulating blood to the retina across the inner blood-retinal barrier. When associated with LAPTM4B, recruits SLC3A2 and SLC7A5 to lysosomes to promote leucine uptake into these organelles and is required for mTORC1 activation (PubMed:25998567).',NULL,NULL,NULL,NULL,NULL),(12962,'UniProt Function',NULL,15573,NULL,'Acts as a molecular chaperone for PCSK2/PC2, preventing its premature activation in the regulated secretory pathway. Binds to inactive PCSK2 in the endoplasmic reticulum and facilitates its transport from there to later compartments of the secretory pathway where it is proteolytically matured and activated. Also required for cleavage of PCSK2 but does not appear to be involved in its folding. Plays a role in regulating pituitary hormone secretion. The C-terminal peptide inhibits PCSK2 in vitro.',NULL,NULL,NULL,NULL,NULL),(12963,'UniProt Function',NULL,15575,NULL,'Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.',NULL,NULL,NULL,NULL,NULL),(12964,'UniProt Function',NULL,15576,NULL,'May act in negative regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved in cytoskeletal reorganization and EGFR signaling. Together with EPS8 participates in transduction of signals from Ras to Rac. In vitro, a trimeric complex of ABI1, EPS8 and SOS1 exhibits Rac specific guanine nucleotide exchange factor (GEF) activity and ABI1 seems to act as an adapter in the complex. Regulates ABL1/c-Abl-mediated phosphorylation of ENAH. Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level. In brain, seems to regulate the dendritic outgrowth and branching as well as to determine the shape and number of synaptic contacts of developing neurons.',NULL,NULL,NULL,NULL,NULL),(12965,'UniProt Function',NULL,15577,NULL,'May be involved in the initiation of hepatocyte growth.',NULL,NULL,NULL,NULL,NULL),(12966,'UniProt Function',NULL,15578,NULL,'Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively.',NULL,NULL,NULL,NULL,NULL),(12967,'UniProt Function',NULL,15580,NULL,'Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has also a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety.',NULL,NULL,NULL,NULL,NULL),(12968,'UniProt Function',NULL,15582,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12969,'UniProt Function',NULL,15583,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12970,'UniProt Function',NULL,15584,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12971,'UniProt Function',NULL,15585,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(12972,'UniProt Function',NULL,15586,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12973,'UniProt Function',NULL,15587,NULL,'May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5\'-monophosphate (IMP) and other purine nucleotides.',NULL,NULL,NULL,NULL,NULL),(12974,'UniProt Function',NULL,15588,NULL,'Transporter involved in macrophage lipid homeostasis. Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages.',NULL,NULL,NULL,NULL,NULL),(12975,'UniProt Function',NULL,15589,NULL,'Probable transporter involved in lipid homeostasis.',NULL,NULL,NULL,NULL,NULL),(12976,'UniProt Function',NULL,15590,NULL,'May be involved in macrophage lipid homeostasis.',NULL,NULL,NULL,NULL,NULL),(12977,'UniProt Function',NULL,15591,NULL,'May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes.',NULL,NULL,NULL,NULL,NULL),(12978,'UniProt Function',NULL,15592,NULL,'Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development.',NULL,NULL,NULL,NULL,NULL),(12979,'UniProt Function',NULL,15593,NULL,'Could be a novel TATA-binding protein (TBP) which can function as a basal transcription activator. Can act as a regulator of basal transcription for class II genes (By similarity).',NULL,NULL,NULL,NULL,NULL),(12980,'UniProt Function',NULL,15594,NULL,'Isoform 2 is required for efficient Cap- and IRES-mediated mRNA translation initiation. Isoform 2 is not involved in the ribosome biogenesis.',NULL,NULL,NULL,NULL,NULL),(12981,'UniProt Function',NULL,15595,NULL,'Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis.',NULL,NULL,NULL,NULL,NULL),(12982,'UniProt Function',NULL,15596,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(12983,'UniProt Function',NULL,15597,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(12984,'UniProt Function',NULL,15598,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12985,'UniProt Function',NULL,15599,NULL,'Hydrolysis of the deoxyribose N-glycosidic bond to excise 3-methyladenine, and 7-methylguanine from the damaged DNA polymer formed by alkylation lesions.',NULL,NULL,NULL,NULL,NULL),(12986,'UniProt Function',NULL,15601,NULL,'Inhibits the auto- and transphosphorylation activity of BTK. Plays a negative regulatory role in BTK-related cytoplasmic signaling in B-cells. May be involved in BCR-induced apoptotic cell death.',NULL,NULL,NULL,NULL,NULL),(12987,'UniProt Function',NULL,15602,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12988,'UniProt Function',NULL,15603,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(12989,'UniProt Function',NULL,15604,NULL,'Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial verotoxins.',NULL,NULL,NULL,NULL,NULL),(12990,'UniProt Function',NULL,15605,NULL,'Is able to inhibit all four classes of proteinases by a unique \'trapping\' mechanism. This protein has a peptide stretch, called the \'bait region\' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region, a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase.',NULL,NULL,NULL,NULL,NULL),(12991,'UniProt Function',NULL,15606,NULL,'Putative C to U editing enzyme whose physiological substrate is not yet known.',NULL,NULL,NULL,NULL,NULL),(12992,'UniProt Function',NULL,15607,NULL,'May mediate critical mitochondrial transport functions related to heme biosynthesis.',NULL,NULL,NULL,NULL,NULL),(12993,'UniProt Function',NULL,15608,NULL,'Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like WASF3 (involved in branch formation); ANXA1 (involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH (involved in signaling); or MAPT and PXN (microtubule-binding proteins). Phosphorylation of WASF3 is critical for the stimulation of lamellipodia formation and cell migration. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as BCAR1, CRK, CRKL, DOK1, EFS or NEDD9. Phosphorylates multiple receptor tyrosine kinases and more particularly promotes endocytosis of EGFR, facilitates the formation of neuromuscular synapses through MUSK, inhibits PDGFRB-mediated chemotaxis and modulates the endocytosis of activated B-cell receptor complexes. Other substrates which are involved in endocytosis regulation are the caveolin (CAV1) and RIN1. Moreover, ABL1 regulates the CBL family of ubiquitin ligases that drive receptor down-regulation and actin remodeling. Phosphorylation of CBL leads to increased EGFR stability. Involved in late-stage autophagy by regulating positively the trafficking and function of lysosomal components. ABL1 targets to mitochondria in response to oxidative stress and thereby mediates mitochondrial dysfunction and cell death. In response to oxidative stress, phosphorylates serine/threonine kinase PRKD2 at \'Tyr-717\' (PubMed:28428613). ABL1 is also translocated in the nucleus where it has DNA-binding activity and is involved in DNA-damage response and apoptosis. Many substrates are known mediators of DNA repair: DDB1, DDB2, ERCC3, ERCC6, RAD9A, RAD51, RAD52 or WRN. Activates the proapoptotic pathway when the DNA damage is too severe to be repaired. Phosphorylates TP73, a primary regulator for this type of damage-induced apoptosis. Phosphorylates the caspase CASP9 on \'Tyr-153\' and regulates its processing in the apoptotic response to DNA damage. Phosphorylates PSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocks. ABL1 acts also as a regulator of multiple pathological signaling cascades during infection. Several known tyrosine-phosphorylated microbial proteins have been identified as ABL1 substrates. This is the case of A36R of Vaccinia virus, Tir (translocated intimin receptor) of pathogenic E.coli and possibly Citrobacter, CagA (cytotoxin-associated gene A) of H.pylori, or AnkA (ankyrin repeat-containing protein A) of A.phagocytophilum. Pathogens can highjack ABL1 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. Regulates T-cell differentiation in a TBX21-dependent manner. Phosphorylates TBX21 on tyrosine residues leading to an enhancement of its transcriptional activator activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(12994,'UniProt Function',NULL,15609,NULL,'Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes \'Lys-63\'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes \'Lys-63\'-linked ubiquitin on histones H2A and H2AX.',NULL,NULL,NULL,NULL,NULL),(12995,'UniProt Function',NULL,15610,NULL,'Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids.',NULL,NULL,NULL,NULL,NULL),(12996,'UniProt Function',NULL,15611,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12997,'UniProt Function',NULL,15612,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(12998,'UniProt Function',NULL,15613,NULL,'The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.',NULL,NULL,NULL,NULL,NULL),(12999,'UniProt Function',NULL,15614,NULL,'Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner.',NULL,NULL,NULL,NULL,NULL),(13000,'UniProt Function',NULL,15615,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13001,'UniProt Function',NULL,15616,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13002,'UniProt Function',NULL,15617,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13003,'UniProt Function',NULL,15619,NULL,'DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. Exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single-or double-stranded RNA. May inhibit the mobility of LTR and non-LTR retrotransposons.',NULL,NULL,NULL,NULL,NULL),(13004,'UniProt Function',NULL,15620,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13005,'UniProt Function',NULL,15621,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13006,'UniProt Function',NULL,15622,NULL,'A bifunctional enzyme responsible for the oxidation and isomerization of 3beta-hydroxy-Delta(5)-steroid precursors to 3-oxo-Delta(4)-steroids, an essential step in steroid hormone biosynthesis. Specifically catalyzes the conversion of pregnenolone to progesterone, 17alpha-hydroxypregnenolone to 17alpha-hydroxyprogesterone, dehydroepiandrosterone (DHEA) to 4-androstenedione, and androstenediol to testosterone. Additionally, catalyzes the interconversion between 3beta-hydroxy and 3-oxo-5alpha-androstane steroids controlling the bioavalability of the active forms. Specifically converts dihydrotestosterone to its inactive form 5alpha-androstanediol, that does not bind androgen receptor/AR. Also converts androstanedione, a precursor of testosterone and estrone, to epiandrosterone (PubMed:1401999, PubMed:2139411). Expected to use NAD(+) as preferred electron donor for the 3beta-hydroxy-steroid dehydrogenase activity and NADPH for the 3-ketosteroid reductase activity (Probable).',NULL,NULL,NULL,NULL,NULL),(13007,'UniProt Function',NULL,15624,NULL,'G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various alkaloids and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity.',NULL,NULL,NULL,NULL,NULL),(13008,'UniProt Function',NULL,15625,NULL,'This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase.',NULL,NULL,NULL,NULL,NULL),(13009,'UniProt Function',NULL,15626,NULL,'Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Beta non-catalytic subunit acts as a scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1, PRKAG2 or PRKAG3).',NULL,NULL,NULL,NULL,NULL),(13010,'UniProt Function',NULL,15628,NULL,'Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala).',NULL,NULL,NULL,NULL,NULL),(13011,'UniProt Function',NULL,15629,NULL,'Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, myristoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons.',NULL,NULL,NULL,NULL,NULL),(13012,'UniProt Function',NULL,15630,NULL,'May inhibit tumor metastasis (By similarity). In vitro, reduces cell motility.',NULL,NULL,NULL,NULL,NULL),(13013,'UniProt Function',NULL,15631,NULL,'GTPase-activating protein for the ADP ribosylation factor family.',NULL,NULL,NULL,NULL,NULL),(13014,'UniProt Function',NULL,15632,NULL,'cAMP-dependent and sulfonylurea-sensitive anion transporter. Involved in the efflux of intracellular cholesterol and phospholipids and their transfer to apoliproteins to form nascent high density lipoproteins/HDLs.',NULL,NULL,NULL,NULL,NULL),(13015,'UniProt Function',NULL,15633,NULL,'Antagonizes the binding of 2-5A (5\'-phosphorylated 2\',5\'-linked oligoadenylates) by RNase L through direct interaction with RNase L and therefore inhibits its endoribonuclease activity. May play a central role in the regulation of mRNA turnover. Antagonizes the anti-viral effect of the interferon-regulated 2-5A/RNase L pathway. May act as a chaperone for post-translational events during HIV-1 capsid assembly.',NULL,NULL,NULL,NULL,NULL),(13016,'UniProt Function',NULL,15635,NULL,'Introduces a double bond at position 2 in saturated acyl-CoA\'s of short chain length, i.e. less than 6 carbon atoms.',NULL,NULL,NULL,NULL,NULL),(13017,'UniProt Function',NULL,15636,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13018,'UniProt Function',NULL,15637,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13019,'UniProt Function',NULL,15638,NULL,'Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation. Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways.',NULL,NULL,NULL,NULL,NULL),(13020,'UniProt Function',NULL,15639,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13021,'UniProt Function',NULL,15640,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13022,'UniProt Function',NULL,15641,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13023,'UniProt Function',NULL,15642,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13024,'UniProt Function',NULL,15643,NULL,'Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards NRAS and DLG4/PSD95.',NULL,NULL,NULL,NULL,NULL),(13025,'UniProt Function',NULL,15644,NULL,'Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes.',NULL,NULL,NULL,NULL,NULL),(13026,'UniProt Function',NULL,15646,NULL,'Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.',NULL,NULL,NULL,NULL,NULL),(13027,'UniProt Function',NULL,15647,NULL,'Acyl-CoA binding protein which acts as the peroxisome receptor for pexophagy but is dispensable for aggrephagy and nonselective autophagy. Binds medium- and long-chain acyl-CoA esters.',NULL,NULL,NULL,NULL,NULL),(13028,'UniProt Function',NULL,15648,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13029,'UniProt Function',NULL,15649,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(13030,'UniProt Function',NULL,15650,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13031,'UniProt Function',NULL,15651,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13032,'UniProt Function',NULL,15653,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13033,'UniProt Function',NULL,15654,NULL,'B regulatory subunit of protein phosphatase 2A (PP2A) that plays a key role in cell cycle by controlling mitosis entry and exit. The activity of PP2A complexes containing PPP2R2D (PR55-delta) fluctuate during the cell cycle: the activity is high in interphase and low in mitosis. During mitosis, activity of PP2A is inhibited via interaction with phosphorylated ENSA and ARPP19 inhibitors. Within the PP2A complexes, the B regulatory subunits modulate substrate selectivity and catalytic activity, and also may direct the localization of the catalytic enzyme to a particular subcellular compartment (By similarity).',NULL,NULL,NULL,NULL,NULL),(13034,'UniProt Function',NULL,15655,NULL,'Specifically hydrolyzes 7-methylguanosine monophosphate (m(7)GMP) to 7-methylguanosine and inorganic phosphate (PubMed:23223233, PubMed:24603684). The specific activity for m(7)GMP may protect cells against undesired salvage of m(7)GMP and its incorporation into nucleic acids (PubMed:23223233). Also has weak activity for CMP (PubMed:23223233, PubMed:24603684). UMP and purine nucleotides are poor substrates (PubMed:23223233).',NULL,NULL,NULL,NULL,NULL),(13035,'UniProt Function',NULL,15658,NULL,'May act as scaffold protein (By similarity). May play a role in the development of the retina. Has been suggested to play a role in axon guidance.',NULL,NULL,NULL,NULL,NULL),(13036,'UniProt Function',NULL,15659,NULL,'Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Has increased ability to activate oleic and linoleic acid. May play a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(13037,'UniProt Function',NULL,15660,NULL,'Probable transporter.',NULL,NULL,NULL,NULL,NULL),(13038,'UniProt Function',NULL,15662,NULL,'Binds medium- and long-chain acyl-CoA esters with very high affinity and may function as an intracellular carrier of acyl-CoA esters. It is also able to displace diazepam from the benzodiazepine (BZD) recognition site located on the GABA type A receptor. It is therefore possible that this protein also acts as a neuropeptide to modulate the action of the GABA receptor.',NULL,NULL,NULL,NULL,NULL),(13039,'UniProt Function',NULL,15663,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13040,'UniProt Function',NULL,15664,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13041,'UniProt Function',NULL,15665,NULL,'The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. Upon interaction with GNA12 promotes dephosphorylation of microtubule associated protein TAU/MAPT (PubMed:15525651). Required for proper chromosome segregation and for centromeric localization of SGO1 in mitosis (PubMed:16580887).',NULL,NULL,NULL,NULL,NULL),(13042,'UniProt Function',NULL,15666,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(13043,'UniProt Function',NULL,15667,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(13044,'UniProt Function',NULL,15668,NULL,'The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.',NULL,NULL,NULL,NULL,NULL),(13045,'UniProt Function',NULL,15669,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13046,'UniProt Function',NULL,15670,NULL,'Sodium-independent, high affinity transport of small neutral D- and L-amino acids. May play a role in the modulation of glutamatergic transmission through mobilization of D-serine at the glutamatergic synapse.',NULL,NULL,NULL,NULL,NULL),(13047,'UniProt Function',NULL,15671,NULL,'Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiation.',NULL,NULL,NULL,NULL,NULL),(13048,'UniProt Function',NULL,15672,NULL,'Phospholipase that may play a role in phospholipids remodeling. May selectively cleave myristate (C14)-containing phosphatidylcholines through its predominant phospholipase 1 activity, cleaving preferentially acyl groups in sn1 position. In parallel, may have a minor phospholipase 2 activity acting on acyl groups in position sn2. In addition to (C14)-containing phosphatidylcholines, may also act on other medium-chain-containing and oxidatively truncated phospholipids.',NULL,NULL,NULL,NULL,NULL),(13049,'UniProt Function',NULL,15673,NULL,'Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways. May also have a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity).',NULL,NULL,NULL,NULL,NULL),(13050,'UniProt Function',NULL,15674,NULL,'Catalyzes the deglucuronidation of mycophenolic acid acyl-glucuronide, a metabolite of the immunosuppressant drug mycophenolate.',NULL,NULL,NULL,NULL,NULL),(13051,'UniProt Function',NULL,15675,NULL,'Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides (PubMed:9096318). Negatively regulates BMP signaling (PubMed:25402622).',NULL,NULL,NULL,NULL,NULL),(13052,'UniProt Function',NULL,15676,NULL,'Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase.',NULL,NULL,NULL,NULL,NULL),(13053,'UniProt Function',NULL,15677,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(13054,'UniProt Function',NULL,15678,NULL,'After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(13055,'UniProt Function',NULL,15679,NULL,'ATP-citrate synthase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. Has a central role in de novo lipid synthesis. In nervous tissue it may be involved in the biosynthesis of acetylcholine.',NULL,NULL,NULL,NULL,NULL),(13056,'UniProt Function',NULL,15680,NULL,'Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active towards fatty acyl-CoA with chain-lengths of C12-C16 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13057,'UniProt Function',NULL,15681,NULL,'Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of intact white matter. In other tissues it act as a scavenger of NAA from body fluids.',NULL,NULL,NULL,NULL,NULL),(13058,'UniProt Function',NULL,15682,NULL,'Catalyzes the formation of cAMP in response to activation of G protein-coupled receptors (Probable). Functions in signaling cascades activated namely by thrombin and sphingosine 1-phosphate and mediates regulation of cAMP synthesis through synergistic action of the stimulatory G alpha protein with GNA13 (PubMed:23229509, PubMed:18541530). Also, during inflammation, mediates zymosan-induced increase intracellular cAMP, leading to protein kinase A pathway activation in order to modulate innate immune responses through heterotrimeric G proteins G(12/13) (By similarity). Functions in signaling cascades activated namely by dopamine and C5 alpha chain and mediates regulation of cAMP synthesis through synergistic action of the stimulatory G protein with G beta:gamma complex (PubMed:23842570, PubMed:23229509). Functions, through cAMP response regulation, to keep inflammation under control during bacterial infection by sensing the presence of serum factors, such as the bioactive lysophospholipid (LPA) that regulate LPS-induced TNF-alpha production. However, it is also required for the optimal functions of B and T cells during adaptive immune responses by regulating cAMP synthesis in both B and T cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(13059,'UniProt Function',NULL,15683,NULL,'Insulin-sensitizing adipocyte-secreted protein (adipokine) that regulates glucose metabolism in liver and adipose tissue. Promotes glucose uptake in adipocytes and suppresses de novo glucose production in hepatocytes via the PI3K-Akt signaling pathway. Administration lead to reduction of blood glucose. Able to attenuate inflammation in fat tissue.',NULL,NULL,NULL,NULL,NULL),(13060,'UniProt Function',NULL,15684,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(13061,'UniProt Function',NULL,15685,NULL,'Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA.',NULL,NULL,NULL,NULL,NULL),(13062,'UniProt Function',NULL,15686,NULL,'This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Its effect is mediated by G(q) and G(11) proteins. Nuclear ADRA1A-ADRA1B heterooligomers regulate phenylephrine (PE)-stimulated ERK signaling in cardiac myocytes.',NULL,NULL,NULL,NULL,NULL),(13063,'UniProt Function',NULL,15687,NULL,'G-protein coupled receptor which has an essential role in the development of hearing and vision. Couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, GNAS, inhibiting adenylate cyclase (AC) activity and cAMP production. Required for the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells of the inner ear. In response to extracellular calcium, activates kinases PKA and PKC to regulate myelination by inhibiting the ubiquitination of MAG, thus enhancing the stability of this protein in myelin-forming cells of the auditory pathway. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. Involved in the regulation of bone metabolism.',NULL,NULL,NULL,NULL,NULL),(13064,'UniProt Function',NULL,15687,NULL,'Cleaved ADGRV1 beta-subunit couples with G-alpha(i)-proteins, GNAI1/2/3, and constitutively inhibits adenylate cyclase (AC) activity with a stronger effect than full ADGRV1.',NULL,NULL,NULL,NULL,NULL),(13065,'UniProt Function',NULL,15688,NULL,'Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity).',NULL,NULL,NULL,NULL,NULL),(13066,'UniProt Function',NULL,15689,NULL,'Acyl-CoA synthetases (ACSL) activates long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. ACSL3 mediates hepatic lipogenesis (By similarity). Preferentially uses myristate, laurate, arachidonate and eicosapentaenoate as substrates (By similarity). Has mainly an anabolic role in energy metabolism. Required for the incorporation of fatty acids into phosphatidylcholine, the major phospholipid located on the surface of VLDL (very low density lipoproteins).',NULL,NULL,NULL,NULL,NULL),(13067,'UniProt Function',NULL,15690,NULL,'Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (By similarity). May be involved in regulatory processes in the central nervous system. May play a role in memory and learning. Plays a role in the regulation of the circadian rhythm of daytime contrast sensitivity probably by modulating the rhythmic synthesis of cyclic AMP in the retina (By similarity).',NULL,NULL,NULL,NULL,NULL),(13068,'UniProt Function',NULL,15691,NULL,'May play an important role in male reproduction including sperm maturation and gonadotrope function. This is a non catalytic metalloprotease-like protein (By similarity).',NULL,NULL,NULL,NULL,NULL),(13069,'UniProt Function',NULL,15692,NULL,'Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642, PubMed:26206488, PubMed:24700542). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion (PubMed:24740569).',NULL,NULL,NULL,NULL,NULL),(13070,'UniProt Function',NULL,15693,NULL,'The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).',NULL,NULL,NULL,NULL,NULL),(13071,'UniProt Function',NULL,15694,NULL,'Plays a role in stimulating adipocyte differentiation and development.',NULL,NULL,NULL,NULL,NULL),(13072,'UniProt Function',NULL,15695,NULL,'AM and PAMP are potent hypotensive and vasodilatator agents. Numerous actions have been reported most related to the physiologic control of fluid and electrolyte homeostasis. In the kidney, am is diuretic and natriuretic, and both am and pamp inhibit aldosterone secretion by direct adrenal actions. In pituitary gland, both peptides at physiologically relevant doses inhibit basal ACTH secretion. Both peptides appear to act in brain and pituitary gland to facilitate the loss of plasma volume, actions which complement their hypotensive effects in blood vessels.',NULL,NULL,NULL,NULL,NULL),(13073,'UniProt Function',NULL,15696,NULL,'Plays a role in spermatogenesis. Binds to RNA but not to DNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(13074,'UniProt Function',NULL,15697,NULL,'Ca(2+)-dependent actin filament-severing protein that has a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane (PubMed:8547642, PubMed:26365202). Severing activity is inhibited by phosphatidylinositol 4,5-bis-phosphate (PIP2) (By similarity). In vitro, also has barbed end capping and nucleating activities in the presence of Ca(2+). Required for megakaryocyte differentiation, maturation, polyploidization and apoptosis with the release of platelet-like particles (PubMed:11568009). Plays a role in osteoclastogenesis (OCG) and actin cytoskeletal organization in osteoclasts (By similarity). Regulates chondrocyte proliferation and differentiation (By similarity). Inhibits cell proliferation and tumorigenesis. Signaling is mediated by MAPK, p38 and JNK pathways (PubMed:11568009).',NULL,NULL,NULL,NULL,NULL),(13075,'UniProt Function',NULL,15698,NULL,'Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein.',NULL,NULL,NULL,NULL,NULL),(13076,'UniProt Function',NULL,15699,NULL,'Active metalloproteinase with gelatinolytic and collagenolytic activity. Plays a role in the wound healing process. Mediates both heterotypic intraepithelial cell/T-cell interactions and homotypic T-cell aggregation. Inhibits beta-1 integrin-mediated cell adhesion and migration of airway smooth muscle cells. Suppresses cell motility on or towards fibronectin possibly by driving alpha-v/beta-1 integrin (ITAGV-ITGB1) cell surface expression via ERK1/2 inactivation. Cleaves E-cadherin in response to growth factor deprivation. Plays a role in glomerular cell migration. Plays a role in pathological neovascularization. May play a role in cartilage remodeling. May be proteolytically processed, during sperm epididymal maturation and the acrosome reaction. May play a role in sperm-egg binding through its disintegrin domain.',NULL,NULL,NULL,NULL,NULL),(13077,'UniProt Function',NULL,15700,NULL,'Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Within the complex, functions as a proteasomal ubiquitin receptor. Engages and activates 19S-associated deubiquitinases UCHL5 and PSMD14 during protein degradation. UCHL5 reversibly associate with the 19S regulatory particle whereas PSMD14 is an intrinsic subunit of the proteasome lid subcomplex.',NULL,NULL,NULL,NULL,NULL),(13078,'UniProt Function',NULL,15701,NULL,'Can cross-link actin filaments into both network and bundle structures (By similarity). May modulate changes in actin filament integrity and induce lamellipodia formation. May function as an adapter molecule that links other proteins, such as SRC and PKC to the actin cytoskeleton. Seems to play a role in the development and progression of prostate adenocarcinoma by regulating cell-matrix adhesions and migration in the cancer cells.',NULL,NULL,NULL,NULL,NULL),(13079,'UniProt Function',NULL,15702,NULL,'Actin-binding protein that enhances membrane ruffling and RAC activation. Enhances the actin-bundling activity of LCP1. Binds calcium. Plays a role in RAC signaling and in phagocytosis. May play a role in macrophage activation and function. Promotes the proliferation of vascular smooth muscle cells and of T-lymphocytes. Enhances lymphocyte migration. Plays a role in vascular inflammation.',NULL,NULL,NULL,NULL,NULL),(13080,'UniProt Function',NULL,15703,NULL,'Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure.',NULL,NULL,NULL,NULL,NULL),(13081,'UniProt Function',NULL,15704,NULL,'May be involved in the control of adherens junction integrity.',NULL,NULL,NULL,NULL,NULL),(13082,'UniProt Function',NULL,15705,NULL,'Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, mitosis, cell-cell adhesion, cell differentiation, proliferation and migration. Contributes to the linking and/or strengthening of epithelia cell-cell junctions in part by linking adhesive receptors to the actin cytoskeleton. May be involved in signal transduction from cell adhesion sites to the nucleus. Plays an important role in regulation of the kinase activity of AURKA for mitotic commitment. Also a component of the IL-1 signaling pathway modulating IL-1-induced NFKB1 activation by influencing the assembly and activity of the PRKCZ-SQSTM1-TRAF6 multiprotein signaling complex. Functions as an HDAC-dependent corepressor for a subset of GFI1 target genes. Acts as a transcriptional corepressor for SNAI1 and SNAI2/SLUG-dependent repression of E-cadherin transcription. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. Positively regulates microRNA (miRNA)-mediated gene silencing. Negatively regulates the Hippo signaling pathway and antagonizes phosphorylation of YAP1.',NULL,NULL,NULL,NULL,NULL),(13083,'UniProt Function',NULL,15706,NULL,'Required for the innate immune response. Downstream effector of the Toll-like receptor (TLR), TNF and IL-1 beta signaling pathways leading to the production of IL-6. Forms a complex with YWHAB that acts to repress transcription of DUSP1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13084,'UniProt Function',NULL,15707,NULL,'Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome dynamics.',NULL,NULL,NULL,NULL,NULL),(13085,'UniProt Function',NULL,15708,NULL,'Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol-linked oligosaccharide chain.',NULL,NULL,NULL,NULL,NULL),(13086,'UniProt Function',NULL,15709,NULL,'Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CXCL11 and CXCL12/SDF1. Chemokine binding does not activate G-protein-mediated signal transduction but instead induces beta-arrestin recruitment, leading to ligand internalization and activation of MAPK signaling pathway. Required for regulation of CXCR4 protein levels in migrating interneurons, thereby adapting their chemokine responsiveness. In glioma cells, transduces signals via MEK/ERK pathway, mediating resistance to apoptosis. Promotes cell growth and survival. Not involved in cell migration, adhesion or proliferation of normal hematopoietic progenitors but activated by CXCL11 in malignant hemapoietic cells, leading to phosphorylation of ERK1/2 (MAPK3/MAPK1) and enhanced cell adhesion and migration. Plays a regulatory role in CXCR4-mediated activation of cell surface integrins by CXCL12. Required for heart valve development. Acts as coreceptor with CXCR4 for a restricted number of HIV isolates.',NULL,NULL,NULL,NULL,NULL),(13087,'UniProt Function',NULL,15710,NULL,'F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.',NULL,NULL,NULL,NULL,NULL),(13088,'UniProt Function',NULL,15711,NULL,'Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome.',NULL,NULL,NULL,NULL,NULL),(13089,'UniProt Function',NULL,15712,NULL,'F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.',NULL,NULL,NULL,NULL,NULL),(13090,'UniProt Function',NULL,15713,NULL,'Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates.',NULL,NULL,NULL,NULL,NULL),(13091,'UniProt Function',NULL,15714,NULL,'Cleaves the membrane-bound precursor of TNF-alpha at \'76-Ala-|-Val-77\' to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including heparin-binding epidermal growth-like factor, ephrin-A2, CD44, CDH2 and for constitutive and regulated alpha-secretase cleavage of amyloid precursor protein (APP) (PubMed:26686862, PubMed:11786905, PubMed:29224781). Contributes to the normal cleavage of the cellular prion protein (PubMed:11477090). Involved in the cleavage of the adhesion molecule L1 at the cell surface and in released membrane vesicles, suggesting a vesicle-based protease activity (PubMed:12475894). Controls also the proteolytic processing of Notch and mediates lateral inhibition during neurogenesis (By similarity). Responsible for the FasL ectodomain shedding and for the generation of the remnant ADAM10-processed FasL (FasL APL) transmembrane form (PubMed:17557115). Also cleaves the ectodomain of the integral membrane proteins CORIN and ITM2B (PubMed:19114711, PubMed:21288900). May regulate the EFNA5-EPHA3 signaling (PubMed:16239146).',NULL,NULL,NULL,NULL,NULL),(13092,'UniProt Function',NULL,15715,NULL,'Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to the erythrocyte membrane receptor SLC2A1/GLUT1 and may therefore provide a link between the spectrin cytoskeleton to the plasma membrane. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit.',NULL,NULL,NULL,NULL,NULL),(13093,'UniProt Function',NULL,15717,NULL,'Essential for the synthesis of various steroid hormones (PubMed:20547883, PubMed:21636783). Participates in the reduction of mitochondrial cytochrome P450 for steroidogenesis (PubMed:20547883, PubMed:21636783). Transfers electrons from adrenodoxin reductase to CYP11A1, a cytochrome P450 that catalyzes cholesterol side-chain cleavage (PubMed:20547883, PubMed:21636783). Does not form a ternary complex with adrenodoxin reductase and CYP11A1 but shuttles between the two enzymes to transfer electrons (By similarity).',NULL,NULL,NULL,NULL,NULL),(13094,'UniProt Function',NULL,15718,NULL,'Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity).',NULL,NULL,NULL,NULL,NULL),(13095,'UniProt Function',NULL,15719,NULL,'Participates in the proteolytic processing of beta-type neuregulin isoforms which are involved in neurogenesis and synaptogenesis, suggesting a regulatory role in glial cell. Also cleaves alpha-2 macroglobulin. May be involved in osteoblast differentiation and/or osteoblast activity in bone (By similarity).',NULL,NULL,NULL,NULL,NULL),(13096,'UniProt Function',NULL,15720,NULL,'Adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol.',NULL,NULL,NULL,NULL,NULL),(13097,'UniProt Function',NULL,15721,NULL,'Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Displays high levels of activity on medium- and long chain acyl CoAs.',NULL,NULL,NULL,NULL,NULL),(13098,'UniProt Function',NULL,15722,NULL,'Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CCL2, CCL8, CCL13, CCL19, CCL21 and CCL25. Chemokine-binding does not activate G-protein-mediated signal transduction but instead induces beta-arrestin recruitment, leading to ligand internalization. Plays an important role in controlling the migration of immune and cancer cells that express chemokine receptors CCR7 and CCR9, by reducing the availability of CCL19, CCL21, and CCL25 through internalization. Negatively regulates CXCR3-induced chemotaxis. Regulates T-cell development in the thymus.',NULL,NULL,NULL,NULL,NULL),(13099,'UniProt Function',NULL,15723,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex), as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion, and is required for postmitotic neural development and dendritic outgrowth. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. ACTL6B/BAF53B is not essential for assembly of the nBAF complex but is required for targeting the complex and CREST to the promoter of genes essential for dendritic growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(13100,'UniProt Function',NULL,15725,NULL,'Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA. Has some preference toward medium-chain substrates. Plays a role in adipocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(13101,'UniProt Function',NULL,15726,NULL,'This is a non catalytic metalloprotease-like protein.',NULL,NULL,NULL,NULL,NULL),(13102,'UniProt Function',NULL,15728,NULL,'Adenylyl cyclase that catalyzes the formation of the signaling molecule cAMP in response to activation of G protein-coupled receptors (PubMed:9628827, PubMed:12972952, PubMed:15879435, PubMed:10987815). Contributes to signaling cascades activated by CRH (corticotropin-releasing factor), corticosteroids and beta-adrenergic receptors (PubMed:9628827).',NULL,NULL,NULL,NULL,NULL),(13103,'UniProt Function',NULL,15730,NULL,'Putative GTPase-activating protein.',NULL,NULL,NULL,NULL,NULL),(13104,'UniProt Function',NULL,15731,NULL,'Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis.',NULL,NULL,NULL,NULL,NULL),(13105,'UniProt Function',NULL,15732,NULL,'Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression.',NULL,NULL,NULL,NULL,NULL),(13106,'UniProt Function',NULL,15733,NULL,'Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphingosine (PubMed:15939762). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (PubMed:28712724, PubMed:28712726). The TIM22 complex mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane by forming a twin-pore translocase that uses the membrane potential as the external driving force (PubMed:28712724, PubMed:28712726). In the TIM22 complex, required for the import of a subset of metabolite carriers into mitochondria, such as ANT1/SLC25A4 and SLC25A24, while it is not required for the import of TIMM23 (PubMed:28712724). Overexpression increases the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK signaling pathway, leading to increased cell growth (PubMed:15939762).',NULL,NULL,NULL,NULL,NULL),(13107,'UniProt Function',NULL,15735,NULL,'Regulates the expression and the cell-associated anticoagulant activity of the inhibitor TFPI in endothelial cells (in vitro).',NULL,NULL,NULL,NULL,NULL),(13108,'UniProt Function',NULL,15736,NULL,'Putative alpha-1,2-glucosyltransferase, which adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol (By similarity). When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2 (PubMed:14525949). Has a role in maintenance of cochlear outer hair cell function (By similarity).',NULL,NULL,NULL,NULL,NULL),(13109,'UniProt Function',NULL,15737,NULL,'ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:27642048). Required for the maturation of paraplegin (SPG7) after its cleavage by mitochondrial-processing peptidase (MPP), converting it into a proteolytically active mature form (By similarity).',NULL,NULL,NULL,NULL,NULL),(13110,'UniProt Function',NULL,15738,NULL,'Putative GTPase-activating protein.',NULL,NULL,NULL,NULL,NULL),(13111,'UniProt Function',NULL,15741,NULL,'Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Has a promiscuous chemokine-binding profile, interacting with inflammatory chemokines of both the CXC and the CC subfamilies but not with homeostatic chemokines. Acts as a receptor for chemokines including CCL2, CCL5, CCL7, CCL11, CCL13, CCL14, CCL17, CXCL5, CXCL6, IL8/CXCL8, CXCL11, GRO, RANTES, MCP-1, TARC and also for the malaria parasites P.vivax and P.knowlesi. May regulate chemokine bioavailability and, consequently, leukocyte recruitment through two distinct mechanisms: when expressed in endothelial cells, it sustains the abluminal to luminal transcytosis of tissue-derived chemokines and their subsequent presentation to circulating leukocytes; when expressed in erythrocytes, serves as blood reservoir of cognate chemokines but also as a chemokine sink, buffering potential surges in plasma chemokine levels.',NULL,NULL,NULL,NULL,NULL),(13112,'UniProt Function',NULL,15743,NULL,'Important for maintaining normal body temperature during fasting and for energy homeostasis. Essential for energy expenditure under ketogenic conditions (By similarity). Converts acetate to acetyl-CoA so that it can be used for oxidation through the tricarboxylic cycle to produce ATP and CO(2).',NULL,NULL,NULL,NULL,NULL),(13113,'UniProt Function',NULL,15744,NULL,'Its physiological role is not yet clear.',NULL,NULL,NULL,NULL,NULL),(13114,'UniProt Function',NULL,15745,NULL,'Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well.',NULL,NULL,NULL,NULL,NULL),(13115,'UniProt Function',NULL,15746,NULL,'Transcriptional corepressor. Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulated gene expression. May be required for the initiation and maintenance of the differentiated state. Essential for the transcriptional repressor activity of SIX3 during retina and lens development.',NULL,NULL,NULL,NULL,NULL),(13116,'UniProt Function',NULL,15747,NULL,'Probably participates in deamination of adenosine-34 to inosine in many tRNAs.',NULL,NULL,NULL,NULL,NULL),(13117,'UniProt Function',NULL,15748,NULL,'Endothelial orphan receptor that acts as a key regulator of angiogenesis.',NULL,NULL,NULL,NULL,NULL),(13118,'UniProt Function',NULL,15749,NULL,'Acts as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development. Specifically protects free alpha-hemoglobin from precipitation. It is predicted to modulate pathological states of alpha-hemoglobin excess such as beta-thalassemia.',NULL,NULL,NULL,NULL,NULL),(13119,'UniProt Function',NULL,15750,NULL,'Functions both as NADH oxidoreductase and as regulator of apoptosis. In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. In contrast, functions as an antiapoptotic factor in normal mitochondria via its NADH oxidoreductase activity. The soluble form (AIFsol) found in the nucleus induces \'parthanatos\' i.e. caspase-independent fragmentation of chromosomal DNA. Interacts with EIF3G,and thereby inhibits the EIF3 machinery and protein synthesis, and activates casapse-7 to amplify apoptosis. Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells. Binds to DNA in a sequence-independent manner.',NULL,NULL,NULL,NULL,NULL),(13120,'UniProt Function',NULL,15751,NULL,'AKT3 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT3 is the least studied AKT isoform. It plays an important role in brain development and is crucial for the viability of malignant glioma cells. AKT3 isoform may also be the key molecule in up-regulation and down-regulation of MMP13 via IL13. Required for the coordination of mitochondrial biogenesis with growth factor-induced increases in cellular energy demands. Down-regulation by RNA interference reduces the expression of the phosphorylated form of BAD, resulting in the induction of caspase-dependent apoptosis.',NULL,NULL,NULL,NULL,NULL),(13121,'UniProt Function',NULL,15752,NULL,'Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20-alpha-hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route.',NULL,NULL,NULL,NULL,NULL),(13122,'UniProt Function',NULL,15755,NULL,'Plays an important role in deacetylating mercapturic acids in kidney proximal tubules. Also acts on N-acetyl-aromatic amino acids (By similarity).',NULL,NULL,NULL,NULL,NULL),(13123,'UniProt Function',NULL,15756,NULL,'F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.',NULL,NULL,NULL,NULL,NULL),(13124,'UniProt Function',NULL,15757,NULL,'Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis.',NULL,NULL,NULL,NULL,NULL),(13125,'UniProt Function',NULL,15758,NULL,'Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin.',NULL,NULL,NULL,NULL,NULL),(13126,'UniProt Function',NULL,15759,NULL,'Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).',NULL,NULL,NULL,NULL,NULL),(13127,'UniProt Function',NULL,15760,NULL,'Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity.',NULL,NULL,NULL,NULL,NULL),(13128,'UniProt Function',NULL,15761,NULL,'Belongs to an adhesion system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). May connect the nectin-afadin and E-cadherin-catenin system through alpha-actinin and may be involved in organization of the actin cytoskeleton at AJs through afadin and alpha-actinin (By similarity). Involved in cell movement: localizes at the leading edge of moving cells in response to PDGF and is required for the formation of the leading edge and the promotion of cell movement, possibly via activation of Rac signaling (By similarity). Acts as a centrosome maturation factor, probably by maintaining the integrity of the pericentriolar material and proper microtubule nucleation at mitotic spindle poles. The function seems to implicate at least in part WRAP73; the SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome (PubMed:23816619, PubMed:26545777). Involved in ciliogenesis (PubMed:24356449). It is required for targeted recruitment of the BBSome, CEP290, RAB8, and SSTR3 to the cilia (PubMed:24356449).',NULL,NULL,NULL,NULL,NULL),(13129,'UniProt Function',NULL,15762,NULL,'GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system.',NULL,NULL,NULL,NULL,NULL),(13130,'UniProt Function',NULL,15763,NULL,'Functions as carrier for hydrophobic molecules in body fluids (Probable). Essential for the solubility and activity of lipidated Wnt family members, including WNT1, WNT2B, WNT3, WNT3A, WNT5A, WNT7A, WNT7B, WNT8, WNT9A, WNT9B, WNT10A and WNT10B (PubMed:26902720). Binds vitamin E (PubMed:15952736, PubMed:12463752). May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient (PubMed:15952736). May be involved in the transport of vitamin E across the blood-brain barrier (PubMed:19046407).',NULL,NULL,NULL,NULL,NULL),(13131,'UniProt Function',NULL,15764,NULL,'Putative GTPase-activating protein.',NULL,NULL,NULL,NULL,NULL),(13132,'UniProt Function',NULL,15765,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(13133,'UniProt Function',NULL,15766,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(13134,'UniProt Function',NULL,15768,NULL,'May function as a regulator of both motility- and head-associated functions such as capacitation and the acrosome reaction.',NULL,NULL,NULL,NULL,NULL),(13135,'UniProt Function',NULL,15769,NULL,'Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase (PubMed:10358004). Binds tRNA. Possesses inflammatory cytokine activity (PubMed:11306575). Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7-mediated degradation (By similarity). Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels (By similarity). Promotes dermal fibroblast proliferation and wound repair (PubMed:16472771). Regulates KDELR1-mediated retention of HSP90B1/gp96 in the endoplasmic reticulum (By similarity). Plays a role in angiogenesis by inducing endothelial cell migration at low concentrations and endothelian cell apoptosis at high concentrations (PubMed:12237313). Induces maturation of dendritic cells and monocyte cell adhesion (PubMed:11818442). Modulates endothelial cell responses by degrading HIF-1A through interaction with PSMA7 (PubMed:19362550).',NULL,NULL,NULL,NULL,NULL),(13136,'UniProt Function',NULL,15770,NULL,'Plays a role in cell adhesion and cell migration.',NULL,NULL,NULL,NULL,NULL),(13137,'UniProt Function',NULL,15771,NULL,'ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation.',NULL,NULL,NULL,NULL,NULL),(13138,'UniProt Function',NULL,15772,NULL,'May play a role in the adhesive and proteolytic events that occur during lymphocyte emigration or may function in ectodomain shedding of lymphocyte surface target proteins, such as FASL and CD40L. May be involved in sperm maturation.',NULL,NULL,NULL,NULL,NULL),(13139,'UniProt Function',NULL,15773,NULL,'G-protein coupled receptor which is activated by type IV collagen, a major constituent of the basement membrane (By similarity). Couples to G(i)-proteins as well as G(s)-proteins (PubMed:24227709). Essential for normal differentiation of promyelinating Schwann cells and for normal myelination of axons (PubMed:24227709). Regulates neural, cardiac and ear development via G-protein- and/or N-terminus-dependent signaling (By similarity). May act as a receptor for PRNP which may promote myelin homeostasis (By similarity).',NULL,NULL,NULL,NULL,NULL),(13140,'UniProt Function',NULL,15774,NULL,'Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines including CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL17, CCL22, CCL23, CCL24, SCYA2/MCP-1, SCY3/MIP-1-alpha, SCYA5/RANTES and SCYA7/MCP-3. Upon active ligand stimulation, activates a beta-arrestin 1 (ARRB1)-dependent, G protein-independent signaling pathway that results in the phosphorylation of the actin-binding protein cofilin (CFL1) through a RAC1-PAK1-LIMK1 signaling pathway. Activation of this pathway results in up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. By scavenging chemokines in tissues, on the surfaces of lymphatic vessels, and in placenta, plays an essential role in the resolution (termination) of the inflammatory response and in the regulation of adaptive immune responses. Plays a major role in the immune silencing of macrophages during the resolution of inflammation. Acts as a regulator of inflammatory leukocyte interactions with lymphatic endothelial cells (LECs) and is required for immature/mature dendritic cells discrimination by LECs.',NULL,NULL,NULL,NULL,NULL),(13141,'UniProt Function',NULL,15775,NULL,'Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH (By similarity). Succinyl-CoA thioesterase that also hydrolyzes long chain saturated and unsaturated monocarboxylic acyl-CoAs.',NULL,NULL,NULL,NULL,NULL),(13142,'UniProt Function',NULL,15777,NULL,'Acrosin is the major protease of mammalian spermatozoa. It is a serine protease of trypsin-like cleavage specificity, it is synthesized in a zymogen form, proacrosin and stored in the acrosome.',NULL,NULL,NULL,NULL,NULL),(13143,'UniProt Function',NULL,15778,NULL,'Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2.',NULL,NULL,NULL,NULL,NULL),(13144,'UniProt Function',NULL,15779,NULL,'Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization. Could have a direct role in sperm-zona binding or migration of sperm from the uterus into the oviduct. Interactions with egg membrane could be mediated via binding between its disintegrin-like domain to one or more integrins receptors on the egg. This is a non catalytic metalloprotease-like protein.',NULL,NULL,NULL,NULL,NULL),(13145,'UniProt Function',NULL,15780,NULL,'Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine (PubMed:8452534, PubMed:16670267). Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4 (PubMed:20959412). Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion (PubMed:11772392). Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity). Enhances CD4+ T-cell differentiation and proliferation (PubMed:20959412). Acts as a positive modulator of adenosine receptors ADORA1 and ADORA2A, by enhancing their ligand affinity via conformational change (PubMed:23193172). Stimulates plasminogen activation (PubMed:15016824). Plays a role in male fertility (PubMed:21919946, PubMed:26166670). Plays a protective role in early postimplantation embryonic development (By similarity).',NULL,NULL,NULL,NULL,NULL),(13146,'UniProt Function',NULL,15781,NULL,'Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.',NULL,NULL,NULL,NULL,NULL),(13147,'UniProt Function',NULL,15783,NULL,'May play an important role in the control of the immune response and during pregnancy.',NULL,NULL,NULL,NULL,NULL),(13148,'UniProt Function',NULL,15784,NULL,'The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).',NULL,NULL,NULL,NULL,NULL),(13149,'UniProt Function',NULL,15786,NULL,'Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulates DOT1L functions including histone H3 \'Lys-79\' dimethylation (H3K79me2) and gene activation (PubMed:26439302).',NULL,NULL,NULL,NULL,NULL),(13150,'UniProt Function',NULL,15787,NULL,'GTPase-activating protein (GAP) for ARF1 and ARF5, which also shows strong GTPase activity. Isoform 1 participates in the prevention of neuronal apoptosis by enhancing PI3 kinase activity. It aids the coupling of metabotropic glutamate receptor 1 (GRM1) to cytoplasmic PI3 kinase by interacting with Homer scaffolding proteins, and also seems to mediate anti-apoptotic effects of NGF by activating nuclear PI3 kinase. Isoform 2 does not stimulate PI3 kinase but may protect cells from apoptosis by stimulating Akt. It also regulates the adapter protein 1 (AP-1)-dependent trafficking of proteins in the endosomal system. It seems to be oncogenic. It is overexpressed in cancer cells, prevents apoptosis and promotes cancer cell invasion.',NULL,NULL,NULL,NULL,NULL),(13151,'UniProt Function',NULL,15788,NULL,'Serves as the first electron transfer protein in all the mitochondrial P450 systems including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver.',NULL,NULL,NULL,NULL,NULL),(13152,'UniProt Function',NULL,15789,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(13153,'UniProt Function',NULL,15790,NULL,'Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein (PubMed:19692335). Involved in regulation of cell adhesion and spreading and in inhibition of cell proliferation. Neuronal receptor for LGI1.',NULL,NULL,NULL,NULL,NULL),(13154,'UniProt Function',NULL,15791,NULL,'May play a role in cell-cell and cell-matrix interactions. This is a non-catalytic metalloprotease-like protein.',NULL,NULL,NULL,NULL,NULL),(13155,'UniProt Function',NULL,15792,NULL,'Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids.',NULL,NULL,NULL,NULL,NULL),(13156,'UniProt Function',NULL,15793,NULL,'Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Can also hydrolyze 3-hydroxyphenylacetyl-CoA and 3,4-dihydroxyphenylacetyl-CoA (in vitro). May play a role in controlling adaptive thermogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(13157,'UniProt Function',NULL,15794,NULL,'Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.',NULL,NULL,NULL,NULL,NULL),(13158,'UniProt Function',NULL,15795,NULL,'Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates.',NULL,NULL,NULL,NULL,NULL),(13159,'UniProt Function',NULL,15797,NULL,'May play a role in a signaling cascade by enhancing the kinase activity of SRC. Contributes to SRC-regulated transcription activation.',NULL,NULL,NULL,NULL,NULL),(13160,'UniProt Function',NULL,15799,NULL,'Cell surface receptor that binds to the chondroitin sulfate moiety of glycosaminoglycan chains and promotes cell attachment. Promotes granulocyte chemotaxis, degranulation and adhesion. In macrophages, promotes the release of inflammatory cytokines, including IL8 and TNF. Signals probably through G-proteins. Is a regulator of mast cell degranulation (PubMed:26841242).',NULL,NULL,NULL,NULL,NULL),(13161,'UniProt Function',NULL,15800,NULL,'Putative GTPase-activating protein.',NULL,NULL,NULL,NULL,NULL),(13162,'UniProt Function',NULL,15801,NULL,'Plays a role in weight homeostasis. Involved in the control of feeding behavior through the central melanocortin system. Acts as alpha melanocyte-stimulating hormone antagonist by inhibiting cAMP production mediated by stimulation of melanocortin receptors within the hypothalamus and adrenal gland. Has very low activity with MC5R (By similarity). Is an inverse agonist for MC3R and MC4R being able to suppress their constitutive activity. It promotes MC3R and MC4R endocytosis in an arrestin-dependent manner.',NULL,NULL,NULL,NULL,NULL),(13163,'UniProt Function',NULL,15802,NULL,'Endothelial receptor which functions together with RECK to enable brain endothelial cells to selectively respond to Wnt7 signals (WNT7A or WNT7B) (PubMed:28289266, PubMed:30026314). Plays a key role in Wnt7-specific responses, such as endothelial cell sprouting and migration in the forebrain and neural tube, and establishment of the blood-brain barrier (By similarity). Acts as a Wnt7-specific coactivator of canonical Wnt signaling: required to deliver RECK-bound Wnt7 to frizzled by assembling a higher-order RECK-ADGRA2-Fzd-LRP5-LRP6 complex (PubMed:30026314). ADGRA2-tethering function does not rely on its G-protein coupled receptor (GPCR) structure but instead on its combined capacity to interact with RECK extracellularly and recruit the Dishevelled scaffolding protein intracellularly (PubMed:30026314). Binds to the glycosaminoglycans heparin, heparin sulfate, chondroitin sulfate and dermatan sulfate (PubMed:16982628).',NULL,NULL,NULL,NULL,NULL),(13164,'UniProt Function',NULL,15803,NULL,'Major structural component of sperm fibrous sheath. Plays a role in sperm motility.',NULL,NULL,NULL,NULL,NULL),(13165,'UniProt Function',NULL,15804,NULL,'Orphan receptor. Could be involved in a signal transduction pathway controlling epididymal function and male fertility. May regulate fluid exchange within epididymis.',NULL,NULL,NULL,NULL,NULL),(13166,'UniProt Function',NULL,15805,NULL,'Stearyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates (PubMed:15907797, PubMed:18765284). Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA (PubMed:15907797, PubMed:18765284). Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids (PubMed:15610069). Plays an important role in lipid biosynthesis. Plays an important role in regulating the expression of genes that are involved in lipogenesis and in regulating mitochondrial fatty acid oxidation (By similarity). Plays an important role in body energy homeostasis (By similarity). Contributes to the biosynthesis of membrane phospholipids, cholesterol esters and triglycerides (By similarity).',NULL,NULL,NULL,NULL,NULL),(13167,'UniProt Function',NULL,15806,NULL,'The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover.',NULL,NULL,NULL,NULL,NULL),(13168,'UniProt Function',NULL,15807,NULL,'Activates acetate so that it can be used for lipid synthesis or for energy generation.',NULL,NULL,NULL,NULL,NULL),(13169,'UniProt Function',NULL,15808,NULL,'Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro). Functions as GTP-dependent lipoate-activating enzyme that generates the substrate for lipoyltransferase (By similarity).',NULL,NULL,NULL,NULL,NULL),(13170,'UniProt Function',NULL,15809,NULL,'Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping (PubMed:23836506). Binds to calmodulin.',NULL,NULL,NULL,NULL,NULL),(13171,'UniProt Function',NULL,15810,NULL,'Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity).',NULL,NULL,NULL,NULL,NULL),(13172,'UniProt Function',NULL,15811,NULL,'Probable non-functional remnant of adrenomedullin-5.',NULL,NULL,NULL,NULL,NULL),(13173,'UniProt Function',NULL,15812,NULL,'Catalyzes the reverse reaction of mono-ADP-ribosylation.',NULL,NULL,NULL,NULL,NULL),(13174,'UniProt Function',NULL,15813,NULL,'May be involved in podosome and invadosome formation.',NULL,NULL,NULL,NULL,NULL),(13175,'UniProt Function',NULL,15814,NULL,'Potential transcription factor. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation.',NULL,NULL,NULL,NULL,NULL),(13176,'UniProt Function',NULL,15815,NULL,'Catalyzes the formation of the signaling molecule cAMP (PubMed:12609998, PubMed:15659711, PubMed:24616449, PubMed:25040695, PubMed:24567411). May function as sensor that mediates responses to changes in cellular bicarbonate and CO(2) levels (PubMed:15659711, PubMed:17591988). Has a critical role in mammalian spermatogenesis by producing the cAMP which regulates cAMP-responsive nuclear factors indispensable for sperm maturation in the epididymis. Induces capacitation, the maturational process that sperm undergo prior to fertilization (By similarity). Involved in ciliary beat regulation (PubMed:17591988).',NULL,NULL,NULL,NULL,NULL),(13177,'UniProt Function',NULL,15816,NULL,'Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation.',NULL,NULL,NULL,NULL,NULL),(13178,'UniProt Function',NULL,15817,NULL,'Sperm surface membrane protein that may be involved in spermatogenesis and fertilization. This is a non catalytic metalloprotease-like protein (By similarity).',NULL,NULL,NULL,NULL,NULL),(13179,'UniProt Function',NULL,15818,NULL,'Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) or short interfering RNAs (siRNAs), and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for transcriptional gene silencing (TGS) of promoter regions which are complementary to bound short antigene RNAs (agRNAs).',NULL,NULL,NULL,NULL,NULL),(13180,'UniProt Function',NULL,15819,NULL,'Plays a role in fat cell development; promotes adipogenic differentiation and stimulates transcription initiation of master adipogenesis factors like PPARG and CEBPA at early stages of preadipocyte differentiation. Its overexpression confers resistance to the anticancer chemotherapeutic drug cisplatin.',NULL,NULL,NULL,NULL,NULL),(13181,'UniProt Function',NULL,15821,NULL,'May be involved in sperm maturation and/or fertilization.',NULL,NULL,NULL,NULL,NULL),(13182,'UniProt Function',NULL,15822,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(13183,'UniProt Function',NULL,15823,NULL,'Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability.',NULL,NULL,NULL,NULL,NULL),(13184,'UniProt Function',NULL,15824,NULL,'May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting.',NULL,NULL,NULL,NULL,NULL),(13185,'UniProt Function',NULL,15824,NULL,'Cellular negative regulator of the hepatitis B virus (HBV) X protein.',NULL,NULL,NULL,NULL,NULL),(13186,'UniProt Function',NULL,15825,NULL,'Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction (PubMed:29581253). In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA (PubMed:29925947).',NULL,NULL,NULL,NULL,NULL),(13187,'UniProt Function',NULL,15827,NULL,'The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).',NULL,NULL,NULL,NULL,NULL),(13188,'UniProt Function',NULL,15828,NULL,'Important adipokine involved in the control of fat metabolism and insulin sensitivity, with direct anti-diabetic, anti-atherogenic and anti-inflammatory activities. Stimulates AMPK phosphorylation and activation in the liver and the skeletal muscle, enhancing glucose utilization and fatty-acid combustion. Antagonizes TNF-alpha by negatively regulating its expression in various tissues such as liver and macrophages, and also by counteracting its effects. Inhibits endothelial NF-kappa-B signaling through a cAMP-dependent pathway. May play a role in cell growth, angiogenesis and tissue remodeling by binding and sequestering various growth factors with distinct binding affinities, depending on the type of complex, LMW, MMW or HMW.',NULL,NULL,NULL,NULL,NULL),(13189,'UniProt Function',NULL,15829,NULL,'Involved in mitochondrial ADP/ATP transport. Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.',NULL,NULL,NULL,NULL,NULL),(13190,'UniProt Function',NULL,15830,NULL,'Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (PubMed:20159561, PubMed:20471948, PubMed:25417107, PubMed:27105114, PubMed:27545619). Specifically recognizes and binds acylated histone H3, with a marked preference for histone H3 that is crotonylated (PubMed:25417107, PubMed:27105114, PubMed:27545619). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25417107, PubMed:27105114, PubMed:27545619). Recognizes and binds histone H3 crotonylated at \'Lys-9\' (H3K9cr), and with slightly lower affinity histone H3 crotonylated at \'Lys-18\' (H3K18cr) (PubMed:27105114). Also recognizes and binds histone H3 acetylated at \'Lys-9\' (H3K9ac), but with lower affinity than crotonylated histone H3 (PubMed:25417107, PubMed:27105114). In the SEC complex, MLLT3 is required to recruit the complex to crotonylated histones (PubMed:27105114, PubMed:27545619).',NULL,NULL,NULL,NULL,NULL),(13191,'UniProt Function',NULL,15831,NULL,'Putative GTPase-activating protein.',NULL,NULL,NULL,NULL,NULL),(13192,'UniProt Function',NULL,15832,NULL,'Orphan G-protein coupled receptor involved in cell adhesion and probably in cell-cell interactions. Activates NFAT-signaling pathway, a transcription factor, via the G-protein GNAZ (PubMed:20367554, PubMed:28891236). Involved in angiogenesis inhibition (By similarity).',NULL,NULL,NULL,NULL,NULL),(13193,'UniProt Function',NULL,15833,NULL,'Receptor that plays a role in the regulation of synaptogenesis and dendritic spine formation at least partly via interaction with ELMO1 and RAC1 activity (By similarity). Promotes myoblast fusion through ELMO/DOCK1 (PubMed:24567399).',NULL,NULL,NULL,NULL,NULL),(13194,'UniProt Function',NULL,15834,NULL,'Required for MUC2 post-transcriptional synthesis and secretion. May play a role in the production of mucus by intestinal cells (By similarity). Proto-oncogene that may play a role in cell migration, cell differentiation and cell growth. Promotes cell adhesion (PubMed:23274113).',NULL,NULL,NULL,NULL,NULL),(13195,'UniProt Function',NULL,15835,NULL,'Oxidoreductase, which may play a role in mediating a p53/TP53-dependent apoptosis response. Probable oxidoreductase that acts as a caspase-independent mitochondrial effector of apoptotic cell death. Binds to DNA in a sequence-independent manner. May contribute to genotoxin-induced growth arrest.',NULL,NULL,NULL,NULL,NULL),(13196,'UniProt Function',NULL,15836,NULL,'F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778).',NULL,NULL,NULL,NULL,NULL),(13197,'UniProt Function',NULL,15838,NULL,'Catalyzes the formation of the signaling molecule cAMP downstream of G protein-coupled receptors (PubMed:17916776, PubMed:17110384). Functions in signaling cascades downstream of beta-adrenergic receptors in the heart and in vascular smooth muscle cells (PubMed:17916776). Functions in signaling cascades downstream of the vasopressin receptor in the kidney and has a role in renal water reabsorption. Functions in signaling cascades downstream of PTH1R and plays a role in regulating renal phosphate excretion. Functions in signaling cascades downstream of the VIP and SCT receptors in pancreas and contributes to the regulation of pancreatic amylase and fluid secretion (By similarity). Signaling mediates cAMP-dependent activation of protein kinase PKA. This promotes increased phosphorylation of various proteins, including AKT. Plays a role in regulating cardiac sarcoplasmic reticulum Ca(2+) uptake and storage, and is required for normal heart ventricular contractibility. May contribute to normal heart function (By similarity). Mediates vasodilatation after activation of beta-adrenergic receptors by isoproterenol (PubMed:17916776). Contributes to bone cell responses to mechanical stimuli (By similarity).',NULL,NULL,NULL,NULL,NULL),(13198,'UniProt Function',NULL,15839,NULL,'GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway.',NULL,NULL,NULL,NULL,NULL),(13199,'UniProt Function',NULL,15840,NULL,'May mediate the cellular interaction between myeloid cells and B-cells.',NULL,NULL,NULL,NULL,NULL),(13200,'UniProt Function',NULL,15841,NULL,'Exonuclease with activity against single- and double-stranded DNA and RNA. Mediates p53-induced apoptosis. When induced by p53 following DNA damage, digests double-stranded DNA to form single-stranded DNA and amplifies DNA damage signals, leading to enhancement of apoptosis.',NULL,NULL,NULL,NULL,NULL),(13201,'UniProt Function',NULL,15842,NULL,'May play a role in androgen-regulated growth of hair follicles.',NULL,NULL,NULL,NULL,NULL),(13202,'UniProt Function',NULL,15843,NULL,'Binds to type II regulatory subunits of protein kinase A and anchors/targets them.',NULL,NULL,NULL,NULL,NULL),(13203,'UniProt Function',NULL,15844,NULL,'Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate.',NULL,NULL,NULL,NULL,NULL),(13204,'UniProt Function',NULL,15845,NULL,'Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).',NULL,NULL,NULL,NULL,NULL),(13205,'UniProt Function',NULL,15846,NULL,'Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro).',NULL,NULL,NULL,NULL,NULL),(13206,'UniProt Function',NULL,15847,NULL,'Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP).',NULL,NULL,NULL,NULL,NULL),(13207,'UniProt Function',NULL,15848,NULL,'Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is oxymetazoline > clonidine > epinephrine > norepinephrine > phenylephrine > dopamine > p-synephrine > p-tyramine > serotonin = p-octopamine. For antagonists, the rank order is yohimbine > phentolamine = mianserine > chlorpromazine = spiperone = prazosin > propanolol > alprenolol = pindolol.',NULL,NULL,NULL,NULL,NULL),(13208,'UniProt Function',NULL,15849,NULL,'Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642). Down-stream signaling cascades mediate changes in gene expression patterns and lead to increased IL6 production. Functions in signaling cascades downstream of the muscarinic acetylcholine receptors (By similarity).',NULL,NULL,NULL,NULL,NULL),(13209,'UniProt Function',NULL,15850,NULL,'Cleaves and releases a number of molecules with important roles in tumorigenesis and angiogenesis, such as TEK, KDR, EPHB4, CD40, VCAM1 and CDH5. May mediate cell-cell, cell-matrix interactions and regulate the motility of cells via interactions with integrins.',NULL,NULL,NULL,NULL,NULL),(13210,'UniProt Function',NULL,15850,NULL,'Isoform 2: May act as alpha-secretase for amyloid precursor protein (APP).',NULL,NULL,NULL,NULL,NULL),(13211,'UniProt Function',NULL,15852,NULL,'Orphan receptor that may play a role myeloid-myeloid interactions during immune and inflammatory responses. A ligand for the soluble form of this receptor is present at the surface of monocytes-derived macrophages and activated neutrophils.',NULL,NULL,NULL,NULL,NULL),(13212,'UniProt Function',NULL,15853,NULL,'Catalyzes the conversion of aldehydes and ketones to alcohols. Catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ) and the oxidation of 9-alpha,11-beta-PGF2 to PGD2. Functions as a bi-directional 3-alpha-, 17-beta- and 20-alpha HSD. Can interconvert active androgens, estrogens and progestins with their cognate inactive metabolites. Preferentially transforms androstenedione (4-dione) to testosterone.',NULL,NULL,NULL,NULL,NULL),(13213,'UniProt Function',NULL,15854,NULL,'Enhances NF-kappa-B transcriptional activity by regulating the nuclear localization of the NF-kappa-B subunit RELA and promoting the phosphorylation of RELA by PRKACA. Regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade.',NULL,NULL,NULL,NULL,NULL),(13214,'UniProt Function',NULL,15855,NULL,'Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.',NULL,NULL,NULL,NULL,NULL),(13215,'UniProt Function',NULL,15856,NULL,'Acts as a co-chaperone of HSP90AA1 (PubMed:29127155). Activates the ATPase activity of HSP90AA1 leading to increase in its chaperone activity (PubMed:29127155). Competes with the inhibitory co-chaperone FNIP1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:27353360). Competes with the inhibitory co-chaperone TSC1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155).',NULL,NULL,NULL,NULL,NULL),(13216,'UniProt Function',NULL,15858,NULL,'Calcium-independent receptor of high affinity for alpha-latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor for TENM2 that mediates heterophilic synaptic cell-cell contact and postsynaptic specialization. Receptor probably implicated in the regulation of exocytosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(13217,'UniProt Function',NULL,15859,NULL,'Isoform 1: Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities.',NULL,NULL,NULL,NULL,NULL),(13218,'UniProt Function',NULL,15859,NULL,'Isoform 2: May be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide pathway.',NULL,NULL,NULL,NULL,NULL),(13219,'UniProt Function',NULL,15863,NULL,'ATP-dependent chaperone which uses the energy provided by ATP hydrolysis to generate mechanical force to disassemble protein complexes. May be involved in morphological and functional mitochondrial transformations during spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(13220,'UniProt Function',NULL,15864,NULL,'Phosphatidylserine receptor which enhances the engulfment of apoptotic cells (PubMed:24509909). Also mediates the binding and engulfment of Gram-negative bacteria (PubMed:26838550). Stimulates production of reactive oxygen species by macrophages in response to Gram-negative bacteria, resulting in enhanced microbicidal macrophage activity (PubMed:26838550). In the gastric mucosa, required for recognition and engulfment of apoptotic gastric epithelial cells (PubMed:24509909). Promotes myoblast fusion (By similarity). Activates the Rho pathway in a G-protein-dependent manner (PubMed:23782696). Inhibits MDM2-mediated ubiquitination and degradation of DLG4/PSD95, promoting DLG4 stability and regulating synaptic plasticity (By similarity). Required for the formation of dendritic spines by ensuring the correct localization of PARD3 and TIAM1 (By similarity). Potent inhibitor of angiogenesis in brain and may play a significant role as a mediator of the p53/TP53 signal in suppression of glioblastoma (PubMed:11875720).',NULL,NULL,NULL,NULL,NULL),(13221,'UniProt Function',NULL,15864,NULL,'Vasculostatin-120: Inhibits angiogenesis in a CD36-dependent manner.',NULL,NULL,NULL,NULL,NULL),(13222,'UniProt Function',NULL,15864,NULL,'Vasculostatin-40: Inhibits angiogenesis.',NULL,NULL,NULL,NULL,NULL),(13223,'UniProt Function',NULL,15865,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(13224,'UniProt Function',NULL,15866,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(13225,'UniProt Function',NULL,15867,NULL,'Anchoring protein that mediates the subcellular compartmentation of cAMP-dependent protein kinase (PKA type II) (PubMed:9473338). Acts as an anchor for a PKA-signaling complex onto mitotic chromosomes, which is required for maintenance of chromosomes in a condensed form throughout mitosis. Recruits condensin complex subunit NCAPD2 to chromosomes required for chromatin condensation; the function appears to be independent from PKA-anchoring (PubMed:10601332, PubMed:10791967, PubMed:11964380). May help to deliver cyclin D/E to CDK4 to facilitate cell cycle progression (PubMed:14641107). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at \'Ser-10\' of histone H3; in this function may act redundantly with AKAP8L (PubMed:16980585). Involved in nuclear retention of RPS6KA1 upon ERK activation thus inducing cell proliferation (PubMed:22130794). May be involved in regulation of DNA replication by acting as scaffold for MCM2 (PubMed:12740381). Enhances HMT activity of the KMT2 family MLL4/WBP7 complex and is involved in transcriptional regulation. In a teratocarcinoma cell line is involved in retinoic acid-mediated induction of developmental genes implicating H3 \'Lys-4\' methylation (PubMed:23995757). May be involved in recruitment of active CASP3 to the nucleus in apoptotic cells (PubMed:16227597). May act as a carrier protein of GJA1 for its transport to the nucleus (PubMed:26880274). Seems to involved in modulation of rDNA transcription. Preferentially binds GC-rich DNA in vitro and associates to GC-rich ribosomal RNA promoters (PubMed:26683827). Involved in modulation of Toll-like receptor signaling. Required for the cAMP-dependent suppression of TNF-alpha in early stages of LPS-induced macrophage activation; the function probably implicates targeting of PKA to NFKB1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13226,'UniProt Function',NULL,15868,NULL,'ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde (Probable). They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation (Probable). Oxidizes medium and long chain aldehydes into non-toxic fatty acids (PubMed:1737758). Preferentially oxidizes aromatic aldehyde substrates (PubMed:1737758). Comprises about 50 percent of corneal epithelial soluble proteins (By similarity). May play a role in preventing corneal damage caused by ultraviolet light (By similarity).',NULL,NULL,NULL,NULL,NULL),(13227,'UniProt Function',NULL,15869,NULL,'Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol.',NULL,NULL,NULL,NULL,NULL),(13228,'UniProt Function',NULL,15870,NULL,'Required for leukotriene biosynthesis by ALOX5 (5-lipoxygenase). Anchors ALOX5 to the membrane. Binds arachidonic acid, and could play an essential role in the transfer of arachidonic acid to ALOX5. Binds to MK-886, a compound that blocks the biosynthesis of leukotrienes.',NULL,NULL,NULL,NULL,NULL),(13229,'UniProt Function',NULL,15871,NULL,'Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor binds epinephrine and norepinephrine with approximately equal affinity. Mediates Ras activation through G(s)-alpha- and cAMP-mediated signaling.',NULL,NULL,NULL,NULL,NULL),(13230,'UniProt Function',NULL,15872,NULL,'Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(13231,'UniProt Function',NULL,15873,NULL,'Putative GTPase-activating protein.',NULL,NULL,NULL,NULL,NULL),(13232,'UniProt Function',NULL,15874,NULL,'Probably involved in the sorting and selective transport of receptors and ligands across polarized epithelia.',NULL,NULL,NULL,NULL,NULL),(13233,'UniProt Function',NULL,15875,NULL,'Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion.',NULL,NULL,NULL,NULL,NULL),(13234,'UniProt Function',NULL,15876,NULL,'May be required for neuronal cell differentiation.',NULL,NULL,NULL,NULL,NULL),(13235,'UniProt Function',NULL,15877,NULL,'May be important in protein trafficking and/or protein folding and stabilization.',NULL,NULL,NULL,NULL,NULL),(13236,'UniProt Function',NULL,15878,NULL,'Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enhancing phosphorylation and activation of AKT1. Increases release of TNFSF6 via the AKT1/GSK3B/NFATC1 signaling cascade.',NULL,NULL,NULL,NULL,NULL),(13237,'UniProt Function',NULL,15880,NULL,'Acts as all-trans-retinaldehyde reductase. Can efficiently reduce aliphatic and aromatic aldehydes, and is less active on hexoses (in vitro). May be responsible for detoxification of reactive aldehydes in the digested food before the nutrients are passed on to other organs.',NULL,NULL,NULL,NULL,NULL),(13238,'UniProt Function',NULL,15881,NULL,'Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Does metabolize octanal and decanal but does not metabolize citral, benzaldehyde, acetaldehyde and propanal efficiently (By similarity).',NULL,NULL,NULL,NULL,NULL),(13239,'UniProt Function',NULL,15882,NULL,'Neuronal receptor tyrosine kinase that is essentially and transiently expressed in specific regions of the central and peripheral nervous systems and plays an important role in the genesis and differentiation of the nervous system. Transduces signals from ligands at the cell surface, through specific activation of the mitogen-activated protein kinase (MAPK) pathway. Phosphorylates almost exclusively at the first tyrosine of the Y-x-x-x-Y-Y motif. Following activation by ligand, ALK induces tyrosine phosphorylation of CBL, FRS2, IRS1 and SHC1, as well as of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Acts as a receptor for ligands pleiotrophin (PTN), a secreted growth factor, and midkine (MDK), a PTN-related factor, thus participating in PTN and MDK signal transduction. PTN-binding induces MAPK pathway activation, which is important for the anti-apoptotic signaling of PTN and regulation of cell proliferation. MDK-binding induces phosphorylation of the ALK target insulin receptor substrate (IRS1), activates mitogen-activated protein kinases (MAPKs) and PI3-kinase, resulting also in cell proliferation induction. Drives NF-kappa-B activation, probably through IRS1 and the activation of the AKT serine/threonine kinase. Recruitment of IRS1 to activated ALK and the activation of NF-kappa-B are essential for the autocrine growth and survival signaling of MDK.',NULL,NULL,NULL,NULL,NULL),(13240,'UniProt Function',NULL,15883,NULL,'Metalloprotease which may be important for placentation by regulating biological activity of key peptides at the embryo-maternal interface. On synthetic substrates it shows a marked preference for Leu-4-methylcoumaryl-7-amide (Leu-MCA) over Met-MCA, Arg-LCA and Lys-LCA. Cleaves the N-terminal amino acid of several peptides such as angiotensin-3, kisspeptin-10 and endokinin C.',NULL,NULL,NULL,NULL,NULL),(13241,'UniProt Function',NULL,15885,NULL,'RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.',NULL,NULL,NULL,NULL,NULL),(13242,'UniProt Function',NULL,15886,NULL,'Specifically deaminates adenosine-37 to inosine in tRNA-Ala.',NULL,NULL,NULL,NULL,NULL),(13243,'UniProt Function',NULL,15887,NULL,'Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc.',NULL,NULL,NULL,NULL,NULL),(13244,'UniProt Function',NULL,15889,NULL,'Putative glycosyltransferase.',NULL,NULL,NULL,NULL,NULL),(13245,'UniProt Function',NULL,15890,NULL,'Involved in cardiomyocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(13246,'UniProt Function',NULL,15891,NULL,'May play a role in membrane trafficking.',NULL,NULL,NULL,NULL,NULL),(13247,'UniProt Function',NULL,15892,NULL,'Putative glycosyltransferase.',NULL,NULL,NULL,NULL,NULL),(13248,'UniProt Function',NULL,15893,NULL,'Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation.',NULL,NULL,NULL,NULL,NULL),(13249,'UniProt Function',NULL,15894,NULL,'This alpha-adrenergic receptor mediates its effect through the influx of extracellular calcium.',NULL,NULL,NULL,NULL,NULL),(13250,'UniProt Function',NULL,15895,NULL,'May be involved in sperm maturation and/or fertilization. May also be involved in epithelia functions associated with establishing and maintaining gradients of ions or nutrients.',NULL,NULL,NULL,NULL,NULL),(13251,'UniProt Function',NULL,15896,NULL,'Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for RNA-directed transcription and replication of the human hapatitis delta virus (HDV).',NULL,NULL,NULL,NULL,NULL),(13252,'UniProt Function',NULL,15897,NULL,'Orphan receptor that regulates migration of lymphatic endothelial cells in vitro via the small GTPases RhoA and CDC42 (PubMed:24178298). Regulates B-cell development (By similarity). Seems to signal through G-alpha(q)-proteins (PubMed:22575658).',NULL,NULL,NULL,NULL,NULL),(13253,'UniProt Function',NULL,15898,NULL,'Receptor for angiotensin II. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(13254,'UniProt Function',NULL,15899,NULL,'Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate.',NULL,NULL,NULL,NULL,NULL),(13255,'UniProt Function',NULL,15900,NULL,'Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH-dependent reductase activity towards 9,10-phenanthrenequinone (in vitro) (PubMed:12604216, PubMed:15118078).',NULL,NULL,NULL,NULL,NULL),(13256,'UniProt Function',NULL,15901,NULL,'Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of the mitochondrial outer membrane.',NULL,NULL,NULL,NULL,NULL),(13257,'UniProt Function',NULL,15902,NULL,'Kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation.',NULL,NULL,NULL,NULL,NULL),(13258,'UniProt Function',NULL,15903,NULL,'DNA-binding transcriptional repressor. May interact with and stimulate the activity of the PRC2 complex, which methylates \'Lys-9\' and \'Lys-27\' residues of histone H3.',NULL,NULL,NULL,NULL,NULL),(13259,'UniProt Function',NULL,15904,NULL,'Catalyzes the phosphorylation of D-glucose to D-glucose 6-phosphate using ADP as the phosphate donor. GDP and CDP can replace ADP, but with reduced efficiency (By similarity).',NULL,NULL,NULL,NULL,NULL),(13260,'UniProt Function',NULL,15905,NULL,'Catalyzes the post-translational modification of target proteins by phosphopantetheine. Can transfer the 4\'-phosphopantetheine moiety from coenzyme A to a serine residue of a broad range of acceptors, such as the acyl carrier domain of FASN.',NULL,NULL,NULL,NULL,NULL),(13261,'UniProt Function',NULL,15906,NULL,'Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). The \'minimal RISC\' appears to include AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC-mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the mRNA specifically by AGO2. Binding of RISC to a partially complementary mRNA results in silencing through inhibition of translation, and this is independent of endonuclease activity. May inhibit translation initiation by binding to the 7-methylguanosine cap, thereby preventing the recruitment of the translation initiation factor eIF4-E. May also inhibit translation initiation via interaction with EIF6, which itself binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit. The inhibition of translational initiation leads to the accumulation of the affected mRNA in cytoplasmic processing bodies (P-bodies), where mRNA degradation may subsequently occur. In some cases RISC-mediated translational repression is also observed for miRNAs that perfectly match the 3\' untranslated region (3\'-UTR). Can also up-regulate the translation of specific mRNAs under certain growth conditions. Binds to the AU element of the 3\'-UTR of the TNF (TNF-alpha) mRNA and up-regulates translation under conditions of serum starvation. Also required for transcriptional gene silencing (TGS), in which short RNAs known as antigene RNAs or agRNAs direct the transcriptional repression of complementary promoter regions.',NULL,NULL,NULL,NULL,NULL),(13262,'UniProt Function',NULL,15907,NULL,'ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides.',NULL,NULL,NULL,NULL,NULL),(13263,'UniProt Function',NULL,15908,NULL,'Orphan receptor. Signals via G(s)-alpha family of G-proteins (PubMed:22025619, PubMed:22575658). Has protumorigenic function especially in glioblastoma (PubMed:27775701).',NULL,NULL,NULL,NULL,NULL),(13264,'UniProt Function',NULL,15909,NULL,'Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Proposed to be involved in stabilization of small RNA derivates (riRNA) derived from processed RNA polymerase III-transcribed Alu repeats containing a DR2 retinoic acid response element (RARE) in stem cells and in the subsequent riRNA-dependent degradation of a subset of RNA polymerase II-transcribed coding mRNAs by recruiting a mRNA decapping complex involving EDC4. Possesses RNA slicer activity but only on select RNAs bearing 5\'- and 3\'-flanking sequences to the region of guide-target complementarity (PubMed:29040713).',NULL,NULL,NULL,NULL,NULL),(13265,'UniProt Function',NULL,15910,NULL,'Ligand-activated transcriptional activator. Binds to the XRE promoter region of genes it activates. Activates the expression of multiple phase I and II xenobiotic chemical metabolizing enzyme genes (such as the CYP1A1 gene). Mediates biochemical and toxic effects of halogenated aromatic hydrocarbons. Involved in cell-cycle regulation. Likely to play an important role in the development and maturation of many tissues. Regulates the circadian clock by inhibiting the basal and circadian expression of the core circadian component PER1. Inhibits PER1 by repressing the CLOCK-ARNTL/BMAL1 heterodimer mediated transcriptional activation of PER1. The heterodimer ARNT:AHR binds to core DNA sequence 5\'-TGCGTG-3\' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28602820).',NULL,NULL,NULL,NULL,NULL),(13266,'UniProt Function',NULL,15911,NULL,'Class-IV neuronal intermediate filament that is able to self-assemble. It is involved in the morphogenesis of neurons. It may form an independent structural network without the involvement of other neurofilaments or it may cooperate with NF-L to form the filamentous backbone to which NF-M and NF-H attach to form the cross-bridges.',NULL,NULL,NULL,NULL,NULL),(13267,'UniProt Function',NULL,15912,NULL,'Isoform 1: heparan sulfate basal lamina glycoprotein that plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ) and directs key events in postsynaptic differentiation. Component of the AGRN-LRP4 receptor complex that induces the phosphorylation and activation of MUSK. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Calcium ions are required for maximal AChR clustering. AGRN function in neurons is highly regulated by alternative splicing, glycan binding and proteolytic processing. Modulates calcium ion homeostasis in neurons, specifically by inducing an increase in cytoplasmic calcium ions. Functions differentially in the central nervous system (CNS) by inhibiting the alpha(3)-subtype of Na+/K+-ATPase and evoking depolarization at CNS synapses. This secreted isoform forms a bridge, after release from motor neurons, to basal lamina through binding laminin via the NtA domain.',NULL,NULL,NULL,NULL,NULL),(13268,'UniProt Function',NULL,15912,NULL,'Isoform 2: transmembrane form that is the predominate form in neurons of the brain, induces dendritic filopodia and synapse formation in mature hippocampal neurons in large part due to the attached glycosaminoglycan chains and the action of Rho-family GTPases.',NULL,NULL,NULL,NULL,NULL),(13269,'UniProt Function',NULL,15912,NULL,'Isoform 1, isoform 4 and isoform 5: neuron-specific (z+) isoforms that contain C-terminal insertions of 8-19 AA are potent activators of AChR clustering. Isoform 5, agrin (z+8), containing the 8-AA insert, forms a receptor complex in myotubules containing the neuronal AGRN, the muscle-specific kinase MUSK and LRP4, a member of the LDL receptor family. The splicing factors, NOVA1 and NOVA2, regulate AGRN splicing and production of the \'z\' isoforms.',NULL,NULL,NULL,NULL,NULL),(13270,'UniProt Function',NULL,15912,NULL,'Isoform 3 and isoform 6: lack any \'z\' insert, are muscle-specific and may be involved in endothelial cell differentiation.',NULL,NULL,NULL,NULL,NULL),(13271,'UniProt Function',NULL,15912,NULL,'Agrin N-terminal 110 kDa subunit: is involved in regulation of neurite outgrowth probably due to the presence of the glycosaminoglcan (GAG) side chains of heparan and chondroitin sulfate attached to the Ser/Thr- and Gly/Ser-rich regions. Also involved in modulation of growth factor signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(13272,'UniProt Function',NULL,15912,NULL,'Agrin C-terminal 22 kDa fragment: this released fragment is important for agrin signaling and to exert a maximal dendritic filopodia-inducing effect. All \'z\' splice variants (z+) of this fragment also show an increase in the number of filopodia.',NULL,NULL,NULL,NULL,NULL),(13273,'UniProt Function',NULL,15913,NULL,'Involved in innate immune response by recognizing cytosolic double-stranded DNA and inducing caspase-1-activating inflammasome formation in macrophages. Upon binding to DNA is thought to undergo oligomerization and to associate with PYCARD initiating the recruitment of caspase-1 precusrsor and processing of interleukin-1 beta and interleukin-18. Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner. Can also trigger PYCARD-dependent, caspase-1-independent cell death that involves caspase-8 (By similarity). Tumor suppressor which may act by repressing NF-kappa-B transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(13274,'UniProt Function',NULL,15914,NULL,'Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling to the L-type calcium channel. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium.',NULL,NULL,NULL,NULL,NULL),(13275,'UniProt Function',NULL,15915,NULL,'Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes.',NULL,NULL,NULL,NULL,NULL),(13276,'UniProt Function',NULL,15916,NULL,'Probable dioxygenase that requires molecular oxygen, alpha-ketoglutarate and iron.',NULL,NULL,NULL,NULL,NULL),(13277,'UniProt Function',NULL,15917,NULL,'Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development.',NULL,NULL,NULL,NULL,NULL),(13278,'UniProt Function',NULL,15918,NULL,'E3 ubiquitin-protein ligase that mediates the polyubiquitination of a number of proteins such as CD3D, CYP3A4, CFTR and APOB for proteasomal degradation. Component of a VCP/p97-AMFR/gp78 complex that participates in the final step of endoplasmic reticulum-associated degradation (ERAD). The VCP/p97-AMFR/gp78 complex is involved in the sterol-accelerated ERAD degradation of HMGCR through binding to the HMGCR-INSIG complex at the ER membrane and initiating ubiquitination of HMGCR. The ubiquitinated HMGCR is then released from the ER by the complex into the cytosol for subsequent destruction. Also regulates ERAD through the ubiquitination of UBL4A a component of the BAG6/BAT3 complex. Also acts as a scaffold protein to assemble a complex that couples ubiquitination, retranslocation and deglycosylation. Mediates tumor invasion and metastasis as a receptor for the GPI/autocrine motility factor.',NULL,NULL,NULL,NULL,NULL),(13279,'UniProt Function',NULL,15919,NULL,'Putative mitochondrial ATPase. Plays a role in mitochondrial morphology and mitochondrial protein metabolism. Promotes degradation of excess nuclear-encoded complex IV subunits (COX4I1, COX5A and COX6A1) and normal activity of complexes III and IV of the respiratory chain (PubMed:26759378, PubMed:27323408). Mediates mitochondrial translocation of TP53 and its transcription-independent apoptosis in response to genotoxic stress (PubMed:27323408).',NULL,NULL,NULL,NULL,NULL),(13280,'UniProt Function',NULL,15920,NULL,'Receptor involved in cell adhesion and probably in cell-cell interactions. Mediates cell matrix adhesion in developing neurons and hematopoietic stem cells. Receptor for collagen III/COL3A1 in the developing brain and involved in regulation of cortical development, specifically in maintenance of the pial basement membrane integrity and in cortical lamination (By similarity). Binding to the COL3A1 ligand inhibits neuronal migration and activates the RhoA pathway by coupling to GNA13 and possibly GNA12 (PubMed:22238662). Plays a role in the maintenance of hematopoietic stem cells and/or leukemia stem cells in bone marrow niche (By similarity). Plays a critical role in cancer progression by inhibiting VEGFA production threreby inhibiting angiogenesis through a signaling pathway mediated by PRKCA (PubMed:16757564, PubMed:21724588). Plays an essential role in testis development (By similarity).',NULL,NULL,NULL,NULL,NULL),(13281,'UniProt Function',NULL,15920,NULL,'ADGRG1 N-terminal fragment: Plays a critical role in cancer progression by activating VEGFA production and angiogenesis through a signaling pathway mediated by PRKCA (PubMed:21724588).',NULL,NULL,NULL,NULL,NULL),(13282,'UniProt Function',NULL,15921,NULL,'Orphan receptor involved in cell adhesion and probably in cell-cell interactions specifically involving cells of the immune system. May play a role in regulatory T-cells (Treg) development.',NULL,NULL,NULL,NULL,NULL),(13283,'UniProt Function',NULL,15922,NULL,'Subunit of mTORC1, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at \'Thr-389\', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Within mTORC1, AKT1S1 negatively regulates mTOR activity in a manner that is dependent on its phosphorylation state and binding to 14-3-3 proteins. Inhibits RHEB-GTP-dependent mTORC1 activation. Substrate for AKT1 phosphorylation, but can also be activated by AKT1-independent mechanisms. May also play a role in nerve growth factor-mediated neuroprotection.',NULL,NULL,NULL,NULL,NULL),(13284,'UniProt Function',NULL,15923,NULL,'Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells.',NULL,NULL,NULL,NULL,NULL),(13285,'UniProt Function',NULL,15924,NULL,'Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA) (PubMed:26084028). Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5\'-ATTGGTTA-3\' combined with a 5\'-TTATTA-3\' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at \'Lys-4\', not phosphorylated at \'Thr-3\' and not methylated at \'Arg-2\'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Mainly expressed by medullary thymic epithelial cells (mTECs), induces the expression of thousands of tissue-restricted proteins, which are presented on major histocompatibility complex class I (MHC-I) and MHC-II molecules to developing T-cells percolating through the thymic medulla (PubMed:26084028). Also induces self-tolerance through other mechanisms such as the regulation of the mTEC differentiation program. Controls the medullary accumulation of thymic dendritic cells and the development of regulatory T-cell through the regulation of XCL1 expression. Regulates the production of CCR4 and CCR7 ligands in medullary thymic epithelial cells and alters the coordinated maturation and migration of thymocytes. In thimic B-cells, allows the presentation of licensing-dependent endogenous self-anitgen for negative selection. In secondary lymphoid organs, induces functional inactivation of CD4(+) T-cells. Expressed by a distinct bone marrow-derived population, induces self-tolerance through a mechanism that does not require regulatory T-cells and is resitant to innate inflammatory stimuli (By similarity).',NULL,NULL,NULL,NULL,NULL),(13286,'UniProt Function',NULL,15925,NULL,'Plays a role in cell-cell adhesion and neuron guidance via its interactions with FLRT2 and FLRT3 that are expressed at the surface of adjacent cells (PubMed:26235030). Plays a role in the development of glutamatergic synapses in the cortex. Important in determining the connectivity rates between the principal neurons in the cortex.',NULL,NULL,NULL,NULL,NULL),(13287,'UniProt Function',NULL,15926,NULL,'Dioxygenase that mediates demethylation of DNA and RNA containing 1-methyladenosine (m1A) (PubMed:12486230, PubMed:12594517, PubMed:16174769, PubMed:26863196, PubMed:26863410). Repairs alkylated DNA containing 1-methyladenosine (m1A) and 3-methylcytosine (m3C) by oxidative demethylation (PubMed:12486230, PubMed:12594517, PubMed:16174769, PubMed:25944111). Has a strong preference for single-stranded DNA (PubMed:12486230, PubMed:12594517, PubMed:16174769). Able to process alkylated m3C within double-stranded regions via its interaction with ASCC3, which promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3 (PubMed:22055184). Also acts on RNA (PubMed:12594517, PubMed:16174769, PubMed:26863196, PubMed:26863410, PubMed:16858410). Demethylates N(1)-methyladenosine (m1A) RNA, an epigenetic internal modification of messenger RNAs (mRNAs) highly enriched within 5\'-untranslated regions (UTRs) and in the vicinity of start codons (PubMed:26863196, PubMed:26863410). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:22055184, PubMed:16858410).',NULL,NULL,NULL,NULL,NULL),(13288,'UniProt Function',NULL,15927,NULL,'Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers.',NULL,NULL,NULL,NULL,NULL),(13289,'UniProt Function',NULL,15929,NULL,'Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart.',NULL,NULL,NULL,NULL,NULL),(13290,'UniProt Function',NULL,15931,NULL,'May play a role in the wound healing process. May promote epidermal proliferation, remodeling and regeneration. May promote the chemotactic activity of endothelial cells and induce neovascularization. May counteract high-fat diet-induced obesity and related insulin resistance through increased energy expenditure.',NULL,NULL,NULL,NULL,NULL),(13291,'UniProt Function',NULL,15933,NULL,'Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. May serve to mediate energy generating and energy consuming processes in the distal flagellum, possibly as a nucleotide shuttle between flagellar glycolysis, protein phosphorylation and mechanisms of motility.',NULL,NULL,NULL,NULL,NULL),(13292,'UniProt Function',NULL,15934,NULL,'This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Its effect is mediated by G(q) and G(11) proteins. Nuclear ADRA1A-ADRA1B heterooligomers regulate phenylephrine(PE)-stimulated ERK signaling in cardiac myocytes.',NULL,NULL,NULL,NULL,NULL),(13293,'UniProt Function',NULL,15935,NULL,'Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes movement of Rev-responsive element-containing RNAs from the nuclear periphery to the cytoplasm. This step is essential for HIV-1 replication.',NULL,NULL,NULL,NULL,NULL),(13294,'UniProt Function',NULL,15936,NULL,'Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382).',NULL,NULL,NULL,NULL,NULL),(13295,'UniProt Function',NULL,15937,NULL,'Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the nuclear membrane or sarcoplasmic reticulum. May act as an adapter for assembling multiprotein complexes.',NULL,NULL,NULL,NULL,NULL),(13296,'UniProt Function',NULL,15938,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(13297,'UniProt Function',NULL,15939,NULL,'May act as a negative regulator of Aurora-A kinase, by down-regulation through proteasome-dependent degradation.',NULL,NULL,NULL,NULL,NULL),(13298,'UniProt Function',NULL,15940,NULL,'Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates regulation of pre-mRNA splicing in a PKA-dependent manner.',NULL,NULL,NULL,NULL,NULL),(13299,'UniProt Function',NULL,15942,NULL,'Converts progesterone to its inactive form, 20-alpha-dihydroxyprogesterone (20-alpha-OHP). In the liver and intestine, may have a role in the transport of bile. May have a role in monitoring the intrahepatic bile acid concentration. Has a low bile-binding ability. May play a role in myelin formation.',NULL,NULL,NULL,NULL,NULL),(13300,'UniProt Function',NULL,15943,NULL,'Oxidizes medium and long chain saturated and unsaturated aldehydes. Metabolizes also benzaldehyde. Low activity towards acetaldehyde and 3,4-dihydroxyphenylacetaldehyde. May not metabolize short chain aldehydes. May use both NADP(+) and NAD(+) as cofactors. May have a protective role against the cytotoxicity induced by lipid peroxidation.',NULL,NULL,NULL,NULL,NULL),(13301,'UniProt Function',NULL,15944,NULL,'Dioxygenase that repairs alkylated DNA and RNA containing 1-methyladenine and 3-methylcytosine by oxidative demethylation. Can also repair alkylated DNA containing 1-ethenoadenine (in vitro). Has strong preference for double-stranded DNA. Has low efficiency with single-stranded substrates. Requires molecular oxygen, alpha-ketoglutarate and iron.',NULL,NULL,NULL,NULL,NULL),(13302,'UniProt Function',NULL,15945,NULL,'Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides.',NULL,NULL,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (13303,'UniProt Function',NULL,15946,NULL,'May function as protein hydroxylase; can catalyze auto-hydroxylation at Leu-110 (in vitro), but this activity may be due to the absence of the true substrate (PubMed:25122757). Required to induce programmed necrosis in response to DNA damage caused by cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death (PubMed:23666923). ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage (PubMed:23666923). Does not display DNA demethylase activity (PubMed:23666923). Involved in fatty acid metabolism (By similarity).',NULL,NULL,NULL,NULL,NULL),(13304,'UniProt Function',NULL,15947,NULL,'Receptor that plays a critical role in lung surfactant homeostasis. May play a role in controlling adipocyte function.',NULL,NULL,NULL,NULL,NULL),(13305,'UniProt Function',NULL,15948,NULL,'Required for calcium-mediated regulation of ciliary beat frequency and mucociliary clearance in the airway. Might be involved in the regulation of intracellular calcium in tracheal epithelial cells.',NULL,NULL,NULL,NULL,NULL),(13306,'UniProt Function',NULL,15949,NULL,'IMDL and IMDS may play a role as physiological regulators of gastrointestinal, cardiovascular bioactivities mediated by the CALCRL/RAMPs receptor complexes. Activates the cAMP-dependent pathway.',NULL,NULL,NULL,NULL,NULL),(13307,'UniProt Function',NULL,15950,NULL,'Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation (SHM), gene conversion, and class-switch recombination (CSR) in B-lymphocytes by deaminating C to U during transcription of Ig-variable (V) and Ig-switch (S) region DNA. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses (PubMed:18722174, PubMed:21385873, PubMed:21518874, PubMed:27716525). May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation (PubMed:21496894).',NULL,NULL,NULL,NULL,NULL),(13308,'UniProt Function',NULL,15951,NULL,'Functions as signal transducer for MSTN during skeletal muscle regeneration and myogenesis. May regulates chemotaxis of both macrophages and myoblasts by reorganising actin cytoskeleton, leading to more efficient lamellipodia formation via a PI3 kinase dependent pathway.',NULL,NULL,NULL,NULL,NULL),(13309,'UniProt Function',NULL,15952,NULL,'Receptor for angiotensin II. Cooperates with MTUS1 to inhibit ERK2 activation and cell proliferation.',NULL,NULL,NULL,NULL,NULL),(13310,'UniProt Function',NULL,15953,NULL,'Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation at the cis-side of the Golgi apparatus (PubMed:15047863, PubMed:19242490). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with PDE4DIP isoform 13/MMG8/SMYLE, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension also from the centrosome to the cell periphery (PubMed:29162697).',NULL,NULL,NULL,NULL,NULL),(13311,'UniProt Function',NULL,15953,NULL,'Isoform 4: Associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations.',NULL,NULL,NULL,NULL,NULL),(13312,'UniProt Function',NULL,15955,NULL,'Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER.',NULL,NULL,NULL,NULL,NULL),(13313,'UniProt Function',NULL,15956,NULL,'Binds to type II regulatory subunits of protein kinase A and anchors/targets them.',NULL,NULL,NULL,NULL,NULL),(13314,'UniProt Function',NULL,15957,NULL,'Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.',NULL,NULL,NULL,NULL,NULL),(13315,'UniProt Function',NULL,15958,NULL,'Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus.',NULL,NULL,NULL,NULL,NULL),(13316,'UniProt Function',NULL,15959,NULL,'May mediate heterophilic cell-cell interaction. May contribute to signal transduction through its intracellular domain (By similarity).',NULL,NULL,NULL,NULL,NULL),(13317,'UniProt Function',NULL,15960,NULL,'Bifunctional enzyme that catalyzes 2 sequential steps in C-terminal alpha-amidation of peptides. The monooxygenase part produces an unstable peptidyl(2-hydroxyglycine) intermediate that is dismutated to glyoxylate and the corresponding desglycine peptide amide by the lyase part. C-terminal amidation of peptides such as neuropeptides is essential for full biological activity.',NULL,NULL,NULL,NULL,NULL),(13318,'UniProt Function',NULL,15961,NULL,'Multifunctional protein working as a cell cycle progression factor as well as a cell survival factor. Required for the progression from the G1 to the S phase. Anti-apoptotic protein which functions as a caspase-3 inhibitor. Has no phosphatase 2A (PP2A) inhibitor activity (By similarity). Exhibits histone chaperone properties, stimulating core histones to assemble into a nucleosome.',NULL,NULL,NULL,NULL,NULL),(13319,'UniProt Function',NULL,15962,NULL,'AKT2 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT is responsible of the regulation of glucose uptake by mediating insulin-induced translocation of the SLC2A4/GLUT4 glucose transporter to the cell surface. Phosphorylation of PTPN1 at \'Ser-50\' negatively modulates its phosphatase activity preventing dephosphorylation of the insulin receptor and the attenuation of insulin signaling. Phosphorylation of TBC1D4 triggers the binding of this effector to inhibitory 14-3-3 proteins, which is required for insulin-stimulated glucose transport. AKT regulates also the storage of glucose in the form of glycogen by phosphorylating GSK3A at \'Ser-21\' and GSK3B at \'Ser-9\', resulting in inhibition of its kinase activity. Phosphorylation of GSK3 isoforms by AKT is also thought to be one mechanism by which cell proliferation is driven. AKT regulates also cell survival via the phosphorylation of MAP3K5 (apoptosis signal-related kinase). Phosphorylation of \'Ser-83\' decreases MAP3K5 kinase activity stimulated by oxidative stress and thereby prevents apoptosis. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 at \'Ser-939\' and \'Thr-1462\', thereby activating mTORC1 signaling and leading to both phosphorylation of 4E-BP1 and in activation of RPS6KB1. AKT is involved in the phosphorylation of members of the FOXO factors (Forkhead family of transcription factors), leading to binding of 14-3-3 proteins and cytoplasmic localization. In particular, FOXO1 is phosphorylated at \'Thr-24\', \'Ser-256\' and \'Ser-319\'. FOXO3 and FOXO4 are phosphorylated on equivalent sites. AKT has an important role in the regulation of NF-kappa-B-dependent gene transcription and positively regulates the activity of CREB1 (cyclic AMP (cAMP)-response element binding protein). The phosphorylation of CREB1 induces the binding of accessory proteins that are necessary for the transcription of pro-survival genes such as BCL2 and MCL1. AKT phosphorylates \'Ser-454\' on ATP citrate lyase (ACLY), thereby potentially regulating ACLY activity and fatty acid synthesis. Activates the 3B isoform of cyclic nucleotide phosphodiesterase (PDE3B) via phosphorylation of \'Ser-273\', resulting in reduced cyclic AMP levels and inhibition of lipolysis. Phosphorylates PIKFYVE on \'Ser-318\', which results in increased PI(3)P-5 activity. The Rho GTPase-activating protein DLC1 is another substrate and its phosphorylation is implicated in the regulation cell proliferation and cell growth. AKT plays a role as key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. Signals downstream of phosphatidylinositol 3-kinase (PI(3)K) to mediate the effects of various growth factors such as platelet-derived growth factor (PDGF), epidermal growth factor (EGF), insulin and insulin-like growth factor I (IGF-I). AKT mediates the antiapoptotic effects of IGF-I. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. May be involved in the regulation of the placental development.',NULL,NULL,NULL,NULL,NULL),(13320,'UniProt Function',NULL,15962,NULL,'One of the few specific substrates of AKT2 identified recently is PITX2. Phosphorylation of PITX2 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1. AKT2 seems also to be the principal isoform responsible of the regulation of glucose uptake. Phosphorylates C2CD5 on \'Ser-197\' during insulin-stimulated adipocytes. AKT2 is also specifically involved in skeletal muscle differentiation, one of its substrates in this process being ANKRD2. Down-regulation by RNA interference reduces the expression of the phosphorylated form of BAD, resulting in the induction of caspase-dependent apoptosis. Phosphorylates CLK2 on \'Thr-343\'.',NULL,NULL,NULL,NULL,NULL),(13321,'UniProt Function',NULL,15963,NULL,'Isoform 1: FAD-dependent sulfhydryl oxidase that regenerates the redox-active disulfide bonds in CHCHD4/MIA40, a chaperone essential for disulfide bond formation and protein folding in the mitochondrial intermembrane space. The reduced form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with GFER/ERV1, resulting in regeneration of the essential disulfide bonds in CHCHD4/MIA40, while GFER/ERV1 becomes re-oxidized by donating electrons to cytochrome c or molecular oxygen.',NULL,NULL,NULL,NULL,NULL),(13322,'UniProt Function',NULL,15963,NULL,'Isoform 2: May act as an autocrine hepatotrophic growth factor promoting liver regeneration.',NULL,NULL,NULL,NULL,NULL),(13323,'UniProt Function',NULL,15965,NULL,'Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.',NULL,NULL,NULL,NULL,NULL),(13324,'UniProt Function',NULL,15965,NULL,'Isoform 3 and isoform 4 lack the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones.',NULL,NULL,NULL,NULL,NULL),(13325,'UniProt Function',NULL,15966,NULL,'Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon binding of its ligand. May play a role in the regulation of skeletal growth.',NULL,NULL,NULL,NULL,NULL),(13326,'UniProt Function',NULL,15967,NULL,'Plays important roles in the innate immune response as effector of glucocorticoid-mediated responses and regulator of the inflammatory process. Has anti-inflammatory activity (PubMed:8425544). Plays a role in glucocorticoid-mediated down-regulation of the early phase of the inflammatory response (By similarity). Promotes resolution of inflammation and wound healing (PubMed:25664854). Functions at least in part by activating the formyl peptide receptors and downstream signaling cascades (PubMed:15187149, PubMed:25664854). Promotes chemotaxis of granulocytes and monocytes via activation of the formyl peptide receptors (PubMed:15187149). Contributes to the adaptive immune response by enhancing signaling cascades that are triggered by T-cell activation, regulates differentiation and proliferation of activated T-cells (PubMed:17008549). Promotes the differentiation of T-cells into Th1 cells and negatively regulates differentiation into Th2 cells (PubMed:17008549). Has no effect on unstimulated T cells (PubMed:17008549). Promotes rearrangement of the actin cytoskeleton, cell polarization and cell migration (PubMed:15187149). Negatively regulates hormone exocytosis via activation of the formyl peptide receptors and reorganization of the actin cytoskeleton (PubMed:19625660). Has high affinity for Ca(2+) and can bind up to eight Ca(2+) ions (By similarity). Displays Ca(2+)-dependent binding to phospholipid membranes (PubMed:2532504, PubMed:8557678). Plays a role in the formation of phagocytic cups and phagosomes. Plays a role in phagocytosis by mediating the Ca(2+)-dependent interaction between phagosomes and the actin cytoskeleton (By similarity).',NULL,NULL,NULL,NULL,NULL),(13327,'UniProt Function',NULL,15968,NULL,'May function in protein sorting in late endosomes or multivesucular bodies (MVBs).',NULL,NULL,NULL,NULL,NULL),(13328,'UniProt Function',NULL,15968,NULL,'(Microbial infection) Involved in MVB-assisted maturation of hepatitis B virus (HBV).',NULL,NULL,NULL,NULL,NULL),(13329,'UniProt Function',NULL,15969,NULL,'Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(13330,'UniProt Function',NULL,15970,NULL,'Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOB preferentially degrades benzylamine and phenylethylamine.',NULL,NULL,NULL,NULL,NULL),(13331,'UniProt Function',NULL,15971,NULL,'As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:18395520, it may play a role in cell death.',NULL,NULL,NULL,NULL,NULL),(13332,'UniProt Function',NULL,15972,NULL,'Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity).',NULL,NULL,NULL,NULL,NULL),(13333,'UniProt Function',NULL,15973,NULL,'Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490).',NULL,NULL,NULL,NULL,NULL),(13334,'UniProt Function',NULL,15974,NULL,'Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC).',NULL,NULL,NULL,NULL,NULL),(13335,'UniProt Function',NULL,15975,NULL,'Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation.',NULL,NULL,NULL,NULL,NULL),(13336,'UniProt Function',NULL,15977,NULL,'Broad specificity aminopeptidase which plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Also involved in the processing of various peptides including peptide hormones, such as angiotensin III and IV, neuropeptides, and chemokines. May also be involved the cleavage of peptides bound to major histocompatibility complex class II molecules of antigen presenting cells. May have a role in angiogenesis and promote cholesterol crystallization.',NULL,NULL,NULL,NULL,NULL),(13337,'UniProt Function',NULL,15977,NULL,'(Microbial infection) Acts as a receptor for human coronavirus 229E/HCoV-229E. In case of human coronavirus 229E (HCoV-229E) infection, serves as receptor for HCoV-229E spike glycoprotein.',NULL,NULL,NULL,NULL,NULL),(13338,'UniProt Function',NULL,15977,NULL,'(Microbial infection) Mediates as well Human cytomegalovirus (HCMV) infection.',NULL,NULL,NULL,NULL,NULL),(13339,'UniProt Function',NULL,15978,NULL,'May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(13340,'UniProt Function',NULL,15979,NULL,'Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis.',NULL,NULL,NULL,NULL,NULL),(13341,'UniProt Function',NULL,15980,NULL,'Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3.',NULL,NULL,NULL,NULL,NULL),(13342,'UniProt Function',NULL,15981,NULL,'Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel.',NULL,NULL,NULL,NULL,NULL),(13343,'UniProt Function',NULL,15985,NULL,'Binds to actin on the surface of endothelial cells; once bound, angiogenin is endocytosed and translocated to the nucleus. Stimulates ribosomal RNA synthesis including that containing the initiation site sequences of 45S rRNA. Cleaves tRNA within anticodon loops to produce tRNA-derived stress-induced fragments (tiRNAs) which inhibit protein synthesis and triggers the assembly of stress granules (SGs). Angiogenin induces vascularization of normal and malignant tissues. Angiogenic activity is regulated by interaction with RNH1 in vivo.',NULL,NULL,NULL,NULL,NULL),(13344,'UniProt Function',NULL,15986,NULL,'Does not exhibit calcium-activated chloride channel (CaCC) activity.',NULL,NULL,NULL,NULL,NULL),(13345,'UniProt Function',NULL,15987,NULL,'Proposed effector of Rab5. Binds to phosphatidylinositol 3-phosphate (PI(3)P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of chlathrin-coated vesicles with early endosomes. Involved in macropinocytosis; the function is dependent on Rab5-GTP. Required for correct endosomal localization. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Regulates the subcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport and biosynthetic transport to late endosomes and lysosomes indicative for a regulation of retromer complex-mediated retrograde transport.',NULL,NULL,NULL,NULL,NULL),(13346,'UniProt Function',NULL,15988,NULL,'Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA). Specifically mediates the symmetrical dimethylation of SF3B2. Involved in the regulation of alternative splicing of pre-mRNA (PubMed:25737013, PubMed:25979344).',NULL,NULL,NULL,NULL,NULL),(13347,'UniProt Function',NULL,15989,NULL,'Oxidase with broad substrate specificity, oxidizing aromatic azaheterocycles, such as N1-methylnicotinamide, N-methylphthalazinium and phthalazine, as well as aldehydes, such as benzaldehyde, retinal, pyridoxal, and vanillin. Plays a key role in the metabolism of xenobiotics and drugs containing aromatic azaheterocyclic substituents. Participates in the bioactivation of prodrugs such as famciclovir, catalyzing the oxidation step from 6-deoxypenciclovir to penciclovir, which is a potent antiviral agent. Is probably involved in the regulation of reactive oxygen species homeostasis. May be a prominent source of superoxide generation via the one-electron reduction of molecular oxygen. Also may catalyze nitric oxide (NO) production via the reduction of nitrite to NO with NADH or aldehyde as electron donor. May play a role in adipogenesis.',NULL,NULL,NULL,NULL,NULL),(13348,'UniProt Function',NULL,15990,NULL,'Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.',NULL,NULL,NULL,NULL,NULL),(13349,'UniProt Function',NULL,15991,NULL,'AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT is responsible of the regulation of glucose uptake by mediating insulin-induced translocation of the SLC2A4/GLUT4 glucose transporter to the cell surface. Phosphorylation of PTPN1 at \'Ser-50\' negatively modulates its phosphatase activity preventing dephosphorylation of the insulin receptor and the attenuation of insulin signaling. Phosphorylation of TBC1D4 triggers the binding of this effector to inhibitory 14-3-3 proteins, which is required for insulin-stimulated glucose transport. AKT regulates also the storage of glucose in the form of glycogen by phosphorylating GSK3A at \'Ser-21\' and GSK3B at \'Ser-9\', resulting in inhibition of its kinase activity. Phosphorylation of GSK3 isoforms by AKT is also thought to be one mechanism by which cell proliferation is driven. AKT regulates also cell survival via the phosphorylation of MAP3K5 (apoptosis signal-related kinase). Phosphorylation of \'Ser-83\' decreases MAP3K5 kinase activity stimulated by oxidative stress and thereby prevents apoptosis. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 at \'Ser-939\' and \'Thr-1462\', thereby activating mTORC1 signaling and leading to both phosphorylation of 4E-BP1 and in activation of RPS6KB1. AKT is involved in the phosphorylation of members of the FOXO factors (Forkhead family of transcription factors), leading to binding of 14-3-3 proteins and cytoplasmic localization. In particular, FOXO1 is phosphorylated at \'Thr-24\', \'Ser-256\' and \'Ser-319\'. FOXO3 and FOXO4 are phosphorylated on equivalent sites. AKT has an important role in the regulation of NF-kappa-B-dependent gene transcription and positively regulates the activity of CREB1 (cyclic AMP (cAMP)-response element binding protein). The phosphorylation of CREB1 induces the binding of accessory proteins that are necessary for the transcription of pro-survival genes such as BCL2 and MCL1. AKT phosphorylates \'Ser-454\' on ATP citrate lyase (ACLY), thereby potentially regulating ACLY activity and fatty acid synthesis. Activates the 3B isoform of cyclic nucleotide phosphodiesterase (PDE3B) via phosphorylation of \'Ser-273\', resulting in reduced cyclic AMP levels and inhibition of lipolysis. Phosphorylates PIKFYVE on \'Ser-318\', which results in increased PI(3)P-5 activity. The Rho GTPase-activating protein DLC1 is another substrate and its phosphorylation is implicated in the regulation cell proliferation and cell growth. AKT plays a role as key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. Signals downstream of phosphatidylinositol 3-kinase (PI(3)K) to mediate the effects of various growth factors such as platelet-derived growth factor (PDGF), epidermal growth factor (EGF), insulin and insulin-like growth factor I (IGF-I). AKT mediates the antiapoptotic effects of IGF-I. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. May be involved in the regulation of the placental development. Phosphorylates STK4/MST1 at \'Thr-120\' and \'Thr-387\' leading to inhibition of its: kinase activity, nuclear translocation, autophosphorylation and ability to phosphorylate FOXO3. Phosphorylates STK3/MST2 at \'Thr-117\' and \'Thr-384\' leading to inhibition of its: cleavage, kinase activity, autophosphorylation at Thr-180, binding to RASSF1 and nuclear translocation. Phosphorylates SRPK2 and enhances its kinase activity towards SRSF2 and ACIN1 and promotes its nuclear translocation. Phosphorylates RAF1 at \'Ser-259\' and negatively regulates its activity. Phosphorylation of BAD stimulates its pro-apoptotic activity. Phosphorylates KAT6A at \'Thr-369\' and this phosphorylation inhibits the interaction of KAT6A with PML and negatively regulates its acetylation activity towards p53/TP53.',NULL,NULL,NULL,NULL,NULL),(13350,'UniProt Function',NULL,15991,NULL,'AKT1-specific substrates have been recently identified, including palladin (PALLD), which phosphorylation modulates cytoskeletal organization and cell motility; prohibitin (PHB), playing an important role in cell metabolism and proliferation; and CDKN1A, for which phosphorylation at \'Thr-145\' induces its release from CDK2 and cytoplasmic relocalization. These recent findings indicate that the AKT1 isoform has a more specific role in cell motility and proliferation. Phosphorylates CLK2 thereby controlling cell survival to ionizing radiation.',NULL,NULL,NULL,NULL,NULL),(13351,'UniProt Function',NULL,15992,NULL,'May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame.',NULL,NULL,NULL,NULL,NULL),(13352,'UniProt Function',NULL,15993,NULL,'Involved in the mineralization and structural organization of enamel.',NULL,NULL,NULL,NULL,NULL),(13353,'UniProt Function',NULL,15996,NULL,'Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel.',NULL,NULL,NULL,NULL,NULL),(13354,'UniProt Function',NULL,15997,NULL,'Removes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial lipopolysaccharides (PubMed:1883828, PubMed:8089145, PubMed:29343645). By breaking down LPS, terminates the host response to bacterial infection and prevents prolonged and damaging inflammatory responses (By similarity). In peritoneal macrophages, seems to be important for recovery from a state of immune tolerance following infection by Gram-negative bacteria (By similarity).',NULL,NULL,NULL,NULL,NULL),(13355,'UniProt Function',NULL,15998,NULL,'Receptor for the atrial natriuretic peptide NPPA/ANP and the brain natriuretic peptide NPPB/BNP which are potent vasoactive hormones playing a key role in cardiovascular homeostasis. Has guanylate cyclase activity upon binding of the ligand.',NULL,NULL,NULL,NULL,NULL),(13356,'UniProt Function',NULL,15999,NULL,'Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis.',NULL,NULL,NULL,NULL,NULL),(13357,'UniProt Function',NULL,16000,NULL,'Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5\'-GCCNNNGGC-3\' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.',NULL,NULL,NULL,NULL,NULL),(13358,'UniProt Function',NULL,16002,NULL,'Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates.',NULL,NULL,NULL,NULL,NULL),(13359,'UniProt Function',NULL,16004,NULL,'Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity).',NULL,NULL,NULL,NULL,NULL),(13360,'UniProt Function',NULL,16005,NULL,'Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 beta subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins; at least some clathrin-associated sorting proteins (CLASPs) are recognized by their [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds to clathrin heavy chain, promoting clathrin lattice assembly; clathrin displaces at least some CLASPs from AP2B1 which probably then can be positioned for further coat assembly.',NULL,NULL,NULL,NULL,NULL),(13361,'UniProt Function',NULL,16007,NULL,'Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. Participates in cellular nitrogen metabolism and also in liver gluconeogenesis starting with precursors transported from skeletal muscles (By similarity).',NULL,NULL,NULL,NULL,NULL),(13362,'UniProt Function',NULL,16008,NULL,'Transcription factor that specifically activates the expression of the CD40 receptor and its ligand CD40L/CD154, two cell surface molecules on lymphocytes that are critical for antigen-dependent-B-cell development. Binds to A/T-rich promoters.',NULL,NULL,NULL,NULL,NULL),(13363,'UniProt Function',NULL,16009,NULL,'Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol.',NULL,NULL,NULL,NULL,NULL),(13364,'UniProt Function',NULL,16012,NULL,'AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle.',NULL,NULL,NULL,NULL,NULL),(13365,'UniProt Function',NULL,16013,NULL,'In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368).',NULL,NULL,NULL,NULL,NULL),(13366,'UniProt Function',NULL,16013,NULL,'Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.',NULL,NULL,NULL,NULL,NULL),(13367,'UniProt Function',NULL,16015,NULL,'Hormone which plays a role in endochondral ossification through regulation of cartilaginous growth plate chondrocytes proliferation and differentiation. May also be vasoactive and natriuretic. Specifically binds and stimulates the cGMP production of the NPR2 receptor. Binds the clearance receptor NPR3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13368,'UniProt Function',NULL,16016,NULL,'Calcium-activated chloride channel (CaCC) which plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage development.',NULL,NULL,NULL,NULL,NULL),(13369,'UniProt Function',NULL,16017,NULL,'May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases.',NULL,NULL,NULL,NULL,NULL),(13370,'UniProt Function',NULL,16019,NULL,'Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 mu subunit binds to transmembrane cargo proteins; it recognizes the Y-X-X-Phi motifs. The surface region interacting with to the Y-X-X-Phi motif is inaccessible in cytosolic AP-2, but becomes accessible through a conformational change following phosphorylation of AP-2 mu subunit at \'Tyr-156\' in membrane-associated AP-2. The membrane-specific phosphorylation event appears to involve assembled clathrin which activates the AP-2 mu kinase AAK1 (By similarity). Plays a role in endocytosis of frizzled family members upon Wnt signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(13371,'UniProt Function',NULL,16020,NULL,'Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.',NULL,NULL,NULL,NULL,NULL),(13372,'UniProt Function',NULL,16021,NULL,'Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates.',NULL,NULL,NULL,NULL,NULL),(13373,'UniProt Function',NULL,16022,NULL,'Actin-binding protein that promotes actin bundling. May neither bind calcium nor depend on calcium for function.',NULL,NULL,NULL,NULL,NULL),(13374,'UniProt Function',NULL,16023,NULL,'Co-chaperone that stimulates HSP90 ATPase activity.',NULL,NULL,NULL,NULL,NULL),(13375,'UniProt Function',NULL,16024,NULL,'Calcium-independent receptor of low affinity for alpha-latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor probably implicated in the regulation of exocytosis.',NULL,NULL,NULL,NULL,NULL),(13376,'UniProt Function',NULL,16025,NULL,'Protein kinase A (PKA)-binding protein. Binds to type II regulatory subunits of protein kinase A (PKA) and may block the A-kinase anchoring protein (AKAP)-mediated subcellular localization of PKA (PubMed:25653177).',NULL,NULL,NULL,NULL,NULL),(13377,'UniProt Function',NULL,16026,NULL,'Transcriptional regulator with a possible role in patterning of mesoderm during development.',NULL,NULL,NULL,NULL,NULL),(13378,'UniProt Function',NULL,16027,NULL,'Exopeptidase which selectively removes arginine and/or lysine residues from the N-terminus of several peptide substrates including Arg(0)-Leu-enkephalin, Arg(0)-Met-enkephalin and Arg(-1)-Lys(0)-somatostatin-14. Can hydrolyze leukotriene A4 (LTA-4) into leukotriene B4 (LTB-4) (By similarity).',NULL,NULL,NULL,NULL,NULL),(13379,'UniProt Function',NULL,16028,NULL,'Regulates the translocation of phosphorylated SRC to peripheral cell-matrix adhesion sites. Required for proper architecture of actin filaments. Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. Participates in angiogenesis. May play a role in the polarity, proliferation and migration of endothelial cells. Selectively promotes FGF-induced MAPK activation through SRC.',NULL,NULL,NULL,NULL,NULL),(13380,'UniProt Function',NULL,16030,NULL,'Histone chaperone that specifically mediates the genome-wide removal of histone H2A.Z/H2AFZ from the nucleosome: removes H2A.Z/H2AFZ from its normal sites of deposition, especially from enhancer and insulator regions. Not involved in deposition of H2A.Z/H2AFZ in the nucleosome. May stabilize the evicted H2A.Z/H2AFZ-H2B dimer, thus shifting the equilibrium towards dissociation and the off-chromatin state (PubMed:24463511). Inhibits activity of protein phosphatase 2A (PP2A). Does not inhibit protein phosphatase 1. May play a role in cerebellar development and synaptogenesis.',NULL,NULL,NULL,NULL,NULL),(13381,'UniProt Function',NULL,16031,NULL,'Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity).',NULL,NULL,NULL,NULL,NULL),(13382,'UniProt Function',NULL,16032,NULL,'Regulates central hypertension through its calcium-modulated preference to cleave N-terminal acidic residues from peptides such as angiotensin II.',NULL,NULL,NULL,NULL,NULL),(13383,'UniProt Function',NULL,16033,NULL,'Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity.',NULL,NULL,NULL,NULL,NULL),(13384,'UniProt Function',NULL,16034,NULL,'Has a monoamine oxidase activity with substrate specificity for 2-phenylethylamine and tryptamine. May play a role in adipogenesis. May be a critical modulator of signal transmission in retina.',NULL,NULL,NULL,NULL,NULL),(13385,'UniProt Function',NULL,16035,NULL,'Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes.',NULL,NULL,NULL,NULL,NULL),(13386,'UniProt Function',NULL,16036,NULL,'Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates.',NULL,NULL,NULL,NULL,NULL),(13387,'UniProt Function',NULL,16037,NULL,'Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOA preferentially oxidizes biogenic amines such as 5-hydroxytryptamine (5-HT), norepinephrine and epinephrine.',NULL,NULL,NULL,NULL,NULL),(13388,'UniProt Function',NULL,16038,NULL,'Recruits CKI-epsilon to the beta-catenin degradation complex that consists of AXN1 or AXN2 and GSK3-beta and allows efficient phosphorylation of beta-catenin, thereby inhibiting beta-catenin/Tcf signals.',NULL,NULL,NULL,NULL,NULL),(13389,'UniProt Function',NULL,16039,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(13390,'UniProt Function',NULL,16040,NULL,'Isoform 1: Mainly acts as a reductive enzyme that catalyzes the reduction of androgens and estrogens with high positional selectivity (shows 17-beta-hydroxysteroid dehydrogenase activity) as well as 3-keto-acyl-CoAs. Has a strong selectivity towards NADP(H) (PubMed:25577493).',NULL,NULL,NULL,NULL,NULL),(13391,'UniProt Function',NULL,16040,NULL,'Isoform 2: No oxidoreductase activity observed with the tested substrates.',NULL,NULL,NULL,NULL,NULL),(13392,'UniProt Function',NULL,16041,NULL,'Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols with a broad range of catalytic efficiencies.',NULL,NULL,NULL,NULL,NULL),(13393,'UniProt Function',NULL,16042,NULL,'May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER.',NULL,NULL,NULL,NULL,NULL),(13394,'UniProt Function',NULL,16043,NULL,'NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (PubMed:27759097). Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde (PubMed:27759097). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity).',NULL,NULL,NULL,NULL,NULL),(13395,'UniProt Function',NULL,16044,NULL,'Catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its methyltransferase domain (PubMed:20123966, PubMed:20308323). Catalyzes the last step in the formation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA (PubMed:20123966, PubMed:20308323). Has a preference for tRNA(Arg) and tRNA(Glu), and does not bind tRNA(Lys)(PubMed:20308323). Binds tRNA and catalyzes the iron and alpha-ketoglutarate dependent hydroxylation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its dioxygenase domain, giving rise to 5-(S)-methoxycarbonylhydroxymethyluridine; has a preference for tRNA(Gly) (PubMed:21285950). Required for normal survival after DNA damage (PubMed:20308323). May inhibit apoptosis and promote cell survival and angiogenesis (PubMed:19293182).',NULL,NULL,NULL,NULL,NULL),(13396,'UniProt Function',NULL,16046,NULL,'On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone.',NULL,NULL,NULL,NULL,NULL),(13397,'UniProt Function',NULL,16048,NULL,'Key regulator of abscission step in cytokinesis: part of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage. Together with CHMP4C, required to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ZFYVE19/ANCHR and VPS4 and subsequent abscission.',NULL,NULL,NULL,NULL,NULL),(13398,'UniProt Function',NULL,16050,NULL,'Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell-cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascades. In migrating endothelial cells that lack cell-cell adhesions, ANGT1 recruits TEK to contacts with the extracellular matrix, leading to the formation of focal adhesion complexes, activation of PTK2/FAK and of the downstream kinases MAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation of sprouting angiogenesis. Mediates blood vessel maturation/stability. Implicated in endothelial developmental processes later and distinct from that of VEGF. Appears to play a crucial role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme.',NULL,NULL,NULL,NULL,NULL),(13399,'UniProt Function',NULL,16051,NULL,'Binds to TEK/TIE2, competing for the ANGPT1 binding site, and modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2 in the absence of ANGPT1. In the absence of angiogenic inducers, such as VEGF, ANGPT2-mediated loosening of cell-matrix contacts may induce endothelial cell apoptosis with consequent vascular regression. In concert with VEGF, it may facilitate endothelial cell migration and proliferation, thus serving as a permissive angiogenic signal.',NULL,NULL,NULL,NULL,NULL),(13400,'UniProt Function',NULL,16052,NULL,'Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5\'-GCCNNNGGC-3\' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC (By similarity).',NULL,NULL,NULL,NULL,NULL),(13401,'UniProt Function',NULL,16053,NULL,'Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5\'-GCCNNNGGC-3\' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-epsilon may play a role in the development of the CNS and in cartilage differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(13402,'UniProt Function',NULL,16054,NULL,'Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.',NULL,NULL,NULL,NULL,NULL),(13403,'UniProt Function',NULL,16055,NULL,'May anchor the PKA protein to cytoskeletal and/or organelle-associated proteins, targeting the signal carried by cAMP to specific intracellular effectors. Association with to the beta2-adrenergic receptor (beta2-AR) not only regulates beta2-AR signaling pathway, but also the activation by PKA by switching off the beta2-AR signaling cascade.',NULL,NULL,NULL,NULL,NULL),(13404,'UniProt Function',NULL,16056,NULL,'Required for assembly and stability of the aminoacyl-tRNA synthase complex (PubMed:19131329). Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor.',NULL,NULL,NULL,NULL,NULL),(13405,'UniProt Function',NULL,16057,NULL,'Converts 9-cis-retinal to 9-cis-retinoic acid. Has lower activity towards 13-cis-retinal. Has much lower activity towards all-trans-retinal. Has highest activity with benzaldehyde and decanal (in vitro). Has a preference for NAD, but shows considerable activity with NADP (in vitro).',NULL,NULL,NULL,NULL,NULL),(13406,'UniProt Function',NULL,16058,NULL,'Catalyzes the NADPH-dependent reduction of a variety of aromatic and aliphatic aldehydes to their corresponding alcohols. Catalyzes the reduction of mevaldate to mevalonic acid and of glyceraldehyde to glycerol. Has broad substrate specificity. In vitro substrates include succinic semialdehyde, 4-nitrobenzaldehyde, 1,2-naphthoquinone, methylglyoxal, and D-glucuronic acid. Plays a role in the activation of procarcinogens, such as polycyclic aromatic hydrocarbon trans-dihydrodiols, and in the metabolism of various xenobiotics and drugs, including the anthracyclines doxorubicin (DOX) and daunorubicin (DAUN).',NULL,NULL,NULL,NULL,NULL),(13407,'UniProt Function',NULL,16059,NULL,'Scaffold protein that plays an important role in assembling signaling complexes downstream of several types of G protein-coupled receptors. Activates RHOA in response to signaling via G protein-coupled receptors via its function as Rho guanine nucleotide exchange factor (PubMed:11546812, PubMed:15229649, PubMed:23090968, PubMed:25186459, PubMed:24993829). May also activate other Rho family members (PubMed:11546812). Part of a kinase signaling complex that links ADRA1A and ADRA1B adrenergic receptor signaling to the activation of downstream p38 MAP kinases, such as MAPK11 and MAPK14 (PubMed:17537920, PubMed:23716597, PubMed:21224381). Part of a signaling complex that links ADRA1B signaling to the activation of RHOA and IKBKB/IKKB, leading to increased NF-kappa-B transcriptional activity (PubMed:23090968). Part of a RHOA-dependent signaling cascade that mediates responses to lysophosphatidic acid (LPA), a signaling molecule that activates G-protein coupled receptors and potentiates transcriptional activation of the glucocorticoid receptor NR3C1 (PubMed:16469733). Part of a signaling cascade that stimulates MEF2C-dependent gene expression in response to lysophosphatidic acid (LPA) (By similarity). Part of a signaling pathway that activates MAPK11 and/or MAPK14 and leads to increased transcription activation of the estrogen receptors ESR1 and ESR2 (PubMed:9627117, PubMed:11579095). Part of a signaling cascade that links cAMP and EGFR signaling to BRAF signaling and to PKA-mediated phosphorylation of KSR1, leading to the activation of downstream MAP kinases, such as MAPK1 or MAPK3 (PubMed:21102438). Functions as scaffold protein that anchors cAMP-dependent protein kinase (PKA) and PRKD1. This promotes activation of PRKD1, leading to increased phosphorylation of HDAC5 and ultimately cardiomyocyte hypertrophy (By similarity). Has no guanine nucleotide exchange activity on CDC42, Ras or Rac (PubMed:11546812). Required for normal embryonic heart development, and in particular for normal sarcomere formation in the developing cardiomyocytes (By similarity). Plays a role in cardiomyocyte growth and cardiac hypertrophy in response to activation of the beta-adrenergic receptor by phenylephrine or isoproterenol (PubMed:17537920, PubMed:23090968). Required for normal adaptive cardiac hypertrophy in response to pressure overload (PubMed:23716597). Plays a role in osteogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(13408,'UniProt Function',NULL,16060,NULL,'Oxidizes medium and long chain aldehydes into non-toxic fatty acids.',NULL,NULL,NULL,NULL,NULL),(13409,'UniProt Function',NULL,16061,NULL,'Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity (PubMed:28877472, PubMed:28222186, PubMed:30111836). Specifically recognizes and binds ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria (PubMed:30111836). ADP-Heptose-binding stimulates its kinase activity to phosphorylate and activate TIFA, triggering proinflammatory NF-kappa-B signaling (PubMed:30111836). May be involved in monosodium urate monohydrate (MSU)-induced inflammation by mediating phosphorylation of unconventional myosin MYO9A (PubMed:27169898). May also play a role in apical protein transport by mediating phosphorylation of unconventional myosin MYO1A (PubMed:15883161).',NULL,NULL,NULL,NULL,NULL),(13410,'UniProt Function',NULL,16062,NULL,'Dioxygenase that demethylates RNA by oxidative demethylation: specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:23177736, PubMed:24489119, PubMed:24616105, PubMed:24778178). Can also demethylate N(6)-methyladenosine in single-stranded DNA (in vitro) (PubMed:24616105). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:21264265, PubMed:23177736, PubMed:24489119, PubMed:24616105, PubMed:24778178). Demethylation of m6A mRNA affects mRNA processing and export (PubMed:23177736). Required for the late meiotic and haploid phases of spermatogenesis by mediating m6A demethylation in spermatocytes and round spermatids: m6A demethylation of target transcripts is required for correct splicing and the production of longer 3\'-UTR mRNAs in male germ cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(13411,'UniProt Function',NULL,16063,NULL,'May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(13412,'UniProt Function',NULL,16064,NULL,'Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(13413,'UniProt Function',NULL,16066,NULL,'Ubiquitin-binding protein that specifically recognizes and binds \'Lys-63\'-linked ubiquitin. Does not bind \'Lys-48\'-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane.',NULL,NULL,NULL,NULL,NULL),(13414,'UniProt Function',NULL,16068,NULL,'Binds specifically to calcyclin in a calcium-dependent manner (By similarity). Required for midbody formation and completion of the terminal phase of cytokinesis.',NULL,NULL,NULL,NULL,NULL),(13415,'UniProt Function',NULL,16070,NULL,'Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine. Catalyzes the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction.',NULL,NULL,NULL,NULL,NULL),(13416,'UniProt Function',NULL,16071,NULL,'Can convert/oxidize retinaldehyde to retinoic acid. Binds free retinal and cellular retinol-binding protein-bound retinal (By similarity). May have a broader specificity and oxidize other aldehydes in vivo (PubMed:19296407, PubMed:26373694, PubMed:25450233).',NULL,NULL,NULL,NULL,NULL),(13417,'UniProt Function',NULL,16072,NULL,'Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9. Increases CTE-dependent nuclear unspliced mRNA export (PubMed:10748171, PubMed:11402034). Proposed to target PRKACA to the nucleus but does not seem to be implicated in the binding of regulatory subunit II of PKA (PubMed:10761695, PubMed:11884601). May be involved in nuclear envelope breakdown and chromatin condensation. May be involved in anchoring nuclear membranes to chromatin in interphase and in releasing membranes from chromating at mitosis (PubMed:11034899). May regulate the initiation phase of DNA replication when associated with TMPO isoform Beta (PubMed:12538639). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at \'Ser-10\' of histone H3; in this function seems to act redundantly with AKAP8 (PubMed:16980585). May be involved in regulation of pre-mRNA splicing (PubMed:17594903).',NULL,NULL,NULL,NULL,NULL),(13418,'UniProt Function',NULL,16072,NULL,'(Microbial infection) In case of EBV infection, may target PRKACA to EBNA-LP-containing nuclear sites to modulate transcription from specific promoters.',NULL,NULL,NULL,NULL,NULL),(13419,'UniProt Function',NULL,16072,NULL,'(Microbial infection) Can synergize with DHX9 to activate the CTE-mediated gene expression of type D retroviruses.',NULL,NULL,NULL,NULL,NULL),(13420,'UniProt Function',NULL,16072,NULL,'(Microbial infection) In case of HIV-1 infection, involved in the DHX9-promoted annealing of host tRNA(Lys3) to viral genomic RNA as a primer in reverse transcription; in vitro negatively regulates DHX9 annealing activity.',NULL,NULL,NULL,NULL,NULL),(13421,'UniProt Function',NULL,16075,NULL,'Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carried by cAMP (By similarity).',NULL,NULL,NULL,NULL,NULL),(13422,'UniProt Function',NULL,16076,NULL,'Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells.',NULL,NULL,NULL,NULL,NULL),(13423,'UniProt Function',NULL,16077,NULL,'Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes.',NULL,NULL,NULL,NULL,NULL),(13424,'UniProt Function',NULL,16078,NULL,'Promotes growth and fasciculation of neurites from cultured hippocampal neurons. May be involved in fasciculation as well as myelination of developing neural axons. May have a role in regeneration as well as neural plasticity in the adult nervous system. May mediate homophilic as well as heterophilic cell-cell interaction and contribute to signal transduction through its intracellular domain. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1.',NULL,NULL,NULL,NULL,NULL),(13425,'UniProt Function',NULL,16080,NULL,'Acts as a molecular chaperone for G protein-coupled receptors, regulating their biogenesis and exit from the ER.',NULL,NULL,NULL,NULL,NULL),(13426,'UniProt Function',NULL,16081,NULL,'Arginine methyltransferase that can catalyze the formation of both omega-N monomethylarginine (MMA) and asymmetrical dimethylarginine (aDMA), with a strong preference for the formation of aDMA (PubMed:17898714, PubMed:18077460, PubMed:18079182, PubMed:19405910). Preferentially methylates arginyl residues present in a glycine and arginine-rich domain and displays preference for monomethylated substrates (PubMed:17898714, PubMed:18077460, PubMed:18079182, PubMed:19405910). Specifically mediates the asymmetric dimethylation of histone H3 \'Arg-2\' to form H3R2me2a (PubMed:17898714, PubMed:18079182, PubMed:18077460). H3R2me2a represents a specific tag for epigenetic transcriptional repression and is mutually exclusive with methylation on histone H3 \'Lys-4\' (H3K4me2 and H3K4me3) (PubMed:17898714, PubMed:18077460). Acts as a transcriptional repressor of various genes such as HOXA2, THBS1 and TP53 (PubMed:19509293). Repression of TP53 blocks cellular senescence (By similarity). Also methylates histone H2A and H4 \'Arg-3\' (H2AR3me and H4R3me, respectively). Acts as a regulator of DNA base excision during DNA repair by mediating the methylation of DNA polymerase beta (POLB), leading to the stimulation of its polymerase activity by enhancing DNA binding and processivity (PubMed:16600869). Methylates HMGA1 (PubMed:16157300, PubMed:16159886). Regulates alternative splicing events. Acts as a transcriptional coactivator of a number of steroid hormone receptors including ESR1, ESR2, PGR and NR3C1. Promotes fasting-induced transcriptional activation of the gluconeogenic program through methylation of the CRTC2 transcription coactivator. May play a role in innate immunity against HIV-1 in case of infection by methylating and impairing the function of various HIV-1 proteins such as Tat, Rev and Nucleocapsid protein p7 (NC) (PubMed:17267505). Methylates GPS2, protecting GPS2 from ubiquitination and degradation (By similarity).',NULL,NULL,NULL,NULL,NULL),(13427,'UniProt Function',NULL,16082,NULL,'Acts as a regulator of adipogenesis. Involved in the regulation of the feeding behavior.',NULL,NULL,NULL,NULL,NULL),(13428,'UniProt Function',NULL,16085,NULL,'Induces sprouting in endothelial cells through an autocrine and paracrine action.',NULL,NULL,NULL,NULL,NULL),(13429,'UniProt Function',NULL,16086,NULL,'Orphan receptor that may have a role in planar cell polarity pathway.',NULL,NULL,NULL,NULL,NULL),(13430,'UniProt Function',NULL,16087,NULL,'Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one can also act as substrates.',NULL,NULL,NULL,NULL,NULL),(13431,'UniProt Function',NULL,16088,NULL,'Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal structures. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium.',NULL,NULL,NULL,NULL,NULL),(13432,'UniProt Function',NULL,16089,NULL,'The function of this enzyme is unclear as allantoicase activity is not known to exist in mammals.',NULL,NULL,NULL,NULL,NULL),(13433,'UniProt Function',NULL,16090,NULL,'Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes (PubMed:9753625, PubMed:8756334). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:20451171). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (PubMed:23288509).',NULL,NULL,NULL,NULL,NULL),(13434,'UniProt Function',NULL,16091,NULL,'Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.',NULL,NULL,NULL,NULL,NULL),(13435,'UniProt Function',NULL,16092,NULL,'Required for depolarization-dependent survival of cultured cerebellar granule neurons. May mediate homophilic as well as heterophilic cell-cell interaction with AMIGO1 or AMIGO3. May contribute to signal transduction through its intracellular domain. May be required for tumorigenesis of a subset of gastric adenocarcinomas.',NULL,NULL,NULL,NULL,NULL),(13436,'UniProt Function',NULL,16093,NULL,'May associate with CD21. May regulate the release of Ca(2+) from intracellular stores.',NULL,NULL,NULL,NULL,NULL),(13437,'UniProt Function',NULL,16095,NULL,'Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis.',NULL,NULL,NULL,NULL,NULL),(13438,'UniProt Function',NULL,16095,NULL,'Angiotensin-2: acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone.',NULL,NULL,NULL,NULL,NULL),(13439,'UniProt Function',NULL,16095,NULL,'Angiotensin-3: stimulates aldosterone release.',NULL,NULL,NULL,NULL,NULL),(13440,'UniProt Function',NULL,16095,NULL,'Angiotensin 1-7: is a ligand for the G-protein coupled receptor MAS1. Has vasodilator and antidiuretic effects. Has an antithrombotic effect that involves MAS1-mediated release of nitric oxide from platelets.',NULL,NULL,NULL,NULL,NULL),(13441,'UniProt Function',NULL,16096,NULL,'Low affinity receptor for acetylcholine known to be targeted by disease-causing pemphigus vulgaris antibodies in keratinocytes.',NULL,NULL,NULL,NULL,NULL),(13442,'UniProt Function',NULL,16097,NULL,'Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site.',NULL,NULL,NULL,NULL,NULL),(13443,'UniProt Function',NULL,16098,NULL,'Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential.',NULL,NULL,NULL,NULL,NULL),(13444,'UniProt Function',NULL,16100,NULL,'Adhesion G protein-coupled receptor (GPCR). Transduces intracellular signals through coupling to guanine nucleotide-binding protein G(s) subunit alpha and activation of adenylate cyclase pathway. Isoform 1, but not isoform 2, is constitutively active, as evidenced by elevated basal cAMP levels, and responds to mechanical activation (shaking).',NULL,NULL,NULL,NULL,NULL),(13445,'UniProt Function',NULL,16101,NULL,'Acts as a ventralizing factor during embryogenesis. Inhibits axin-mediated JNK activation by binding axin and disrupting axin homodimerization. This in turn antagonizes a Wnt/beta-catenin-independent dorsalization pathway activated by AXIN/JNK-signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(13446,'UniProt Function',NULL,16103,NULL,'Dioxygenase that acts as on nucleic acids, such as DNA and tRNA (PubMed:18603530, PubMed:27745969, PubMed:27497299). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:18603530, PubMed:27497299). A number of activities have been described for this dioxygenase, but recent results suggest that it mainly acts as on tRNAs and mediates their demethylation or oxidation depending on the context and subcellular compartment (PubMed:27745969, PubMed:27497299). Mainly acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs, with a preference for N(1)-methyladenine at position 58 (m1A58) present on a stem loop structure of tRNAs (PubMed:27745969). Acts as a regulator of translation initiation and elongation in response to glucose deprivation: regulates both translation initiation, by mediating demethylation of tRNA(Met), and translation elongation, N(1)-methyladenine-containing tRNAs being preferentially recruited to polysomes to promote translation elongation (PubMed:27745969). In mitochondrion, specifically interacts with mt-tRNA(Met) and mediates oxidation of mt-tRNA(Met) methylated at cytosine(34) to form 5-formylcytosine (f(5)c) at this position (PubMed:27497299). mt-tRNA(Met) containing the f(5)c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation (PubMed:27497299). Specifically demethylates DNA methylated on the 6th position of adenine (N(6)-methyladenosine) DNA (PubMed:30017583). N(6)-methyladenosine (m6A) DNA is present at some L1 elements in embryonic stem cells and probably promotes their silencing (By similarity). Also able to repair alkylated single-stranded DNA and RNA containing 3-methylcytosine by oxidative demethylation, but with low activity (PubMed:18603530). Also has DNA lyase activity and introduces double-stranded breaks at abasic sites: cleaves both single-stranded DNA and double-stranded DNA at abasic sites, with the greatest activity towards double-stranded DNA with two abasic sites (PubMed:19959401). DNA lyase activity does not require alpha-ketboglutarate and iron and leads to the formation of an irreversible covalent protein-DNA adduct with the 5\' DNA product (PubMed:19959401, PubMed:23577621). DNA lyase activity is not required during base excision repair and class switch recombination of the immunoglobulin heavy chain during B lymphocyte activation. May play a role in placental trophoblast lineage differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(13447,'UniProt Function',NULL,16104,NULL,'Ligand for receptor tyrosine kinases LTK and ALK. Stimulation of ALK signaling may be involved in regulation of cell proliferation and transformation.',NULL,NULL,NULL,NULL,NULL),(13448,'UniProt Function',NULL,16105,NULL,'Hormone that acts as a blood lipid regulator by regulating serum triglyceride levels (PubMed:22569073, PubMed:22809513, PubMed:23150577). May be involved in the metabolic transition between fasting and refeeding: required to direct fatty acids to adipose tissue for storage in the fed state (By similarity).',NULL,NULL,NULL,NULL,NULL),(13449,'UniProt Function',NULL,16107,NULL,'Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner.',NULL,NULL,NULL,NULL,NULL),(13450,'UniProt Function',NULL,16108,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(13451,'UniProt Function',NULL,16109,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13452,'UniProt Function',NULL,16110,NULL,'Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation.',NULL,NULL,NULL,NULL,NULL),(13453,'UniProt Function',NULL,16111,NULL,'The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells.',NULL,NULL,NULL,NULL,NULL),(13454,'UniProt Function',NULL,16112,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13455,'UniProt Function',NULL,16113,NULL,'Essential component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in APOB mRNA. Binds to APOB mRNA and is probably responsible for docking the catalytic subunit, APOBEC1, to the mRNA to allow it to deaminate its target cytosine. The complex also protects the edited APOB mRNA from nonsense-mediated decay.',NULL,NULL,NULL,NULL,NULL),(13456,'UniProt Function',NULL,16114,NULL,'This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel.',NULL,NULL,NULL,NULL,NULL),(13457,'UniProt Function',NULL,16115,NULL,'G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for ergot alkaloid derivatives, various anxiolytic and antidepressant drugs and other psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. Regulates the release of 5-hydroxytryptamine in the brain, and thereby affects neural activity. May also play a role in regulating the release of other neurotransmitters. May play a role in vasoconstriction.',NULL,NULL,NULL,NULL,NULL),(13458,'UniProt Function',NULL,16116,NULL,'May play a role in the processing of autolysosomes.',NULL,NULL,NULL,NULL,NULL),(13459,'UniProt Function',NULL,16117,NULL,'Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.',NULL,NULL,NULL,NULL,NULL),(13460,'UniProt Function',NULL,16118,NULL,'Participates in physiological processes involving bile acids, conjugated steroids and cyclic nucleotides (PubMed:12764137, PubMed:15537867). Enhances the cellular extrusion of cAMP and cGMP (PubMed:12764137, PubMed:15537867). Stimulates the ATP-dependent uptake of a range of physiological and synthetic lipophilic anions, including the glutathione S-conjugates leukotriene C4 and dinitrophenyl S-glutathione, steroid sulfates such as dehydroepiandrosterone 3-sulfate (DHEAS) and estrone 3-sulfate, glucuronides such as estradiol 17-beta-D-glucuronide (E(2)17betaG), the monoanionic bile acids glycocholate and taurocholate, and methotrexate (PubMed:15537867, PubMed:25896536). Probably functions to secrete earwax (PubMed:16444273, PubMed:19383836). Required for the secretion of components contributing to axillary odor formation (PubMed:19710689).',NULL,NULL,NULL,NULL,NULL),(13461,'UniProt Function',NULL,16119,NULL,'Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol. Facilitates cellular uptake of long-chain free fatty acids.',NULL,NULL,NULL,NULL,NULL),(13462,'UniProt Function',NULL,16120,NULL,'Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Regulates lipid synthesis by phosphorylating and inactivating lipid metabolic enzymes such as ACACA, ACACB, GYS1, HMGCR and LIPE; regulates fatty acid and cholesterol synthesis by phosphorylating acetyl-CoA carboxylase (ACACA and ACACB) and hormone-sensitive lipase (LIPE) enzymes, respectively. Regulates insulin-signaling and glycolysis by phosphorylating IRS1, PFKFB2 and PFKFB3. AMPK stimulates glucose uptake in muscle by increasing the translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane, possibly by mediating phosphorylation of TBC1D4/AS160. Regulates transcription and chromatin structure by phosphorylating transcription regulators involved in energy metabolism such as CRTC2/TORC2, FOXO3, histone H2B, HDAC5, MEF2C, MLXIPL/ChREBP, EP300, HNF4A, p53/TP53, SREBF1, SREBF2 and PPARGC1A. Acts as a key regulator of glucose homeostasis in liver by phosphorylating CRTC2/TORC2, leading to CRTC2/TORC2 sequestration in the cytoplasm. In response to stress, phosphorylates \'Ser-36\' of histone H2B (H2BS36ph), leading to promote transcription. Acts as a key regulator of cell growth and proliferation by phosphorylating TSC2, RPTOR and ATG1/ULK1: in response to nutrient limitation, negatively regulates the mTORC1 complex by phosphorylating RPTOR component of the mTORC1 complex and by phosphorylating and activating TSC2. In response to nutrient limitation, promotes autophagy by phosphorylating and activating ATG1/ULK1. In that process also activates WDR45 (PubMed:28561066). In response to nutrient limitation, phosphorylates transcription factor FOXO3 promoting FOXO3 mitochondrial import (By similarity). AMPK also acts as a regulator of circadian rhythm by mediating phosphorylation of CRY1, leading to destabilize it. May regulate the Wnt signaling pathway by phosphorylating CTNNB1, leading to stabilize it. Also has tau-protein kinase activity: in response to amyloid beta A4 protein (APP) exposure, activated by CAMKK2, leading to phosphorylation of MAPT/TAU; however the relevance of such data remains unclear in vivo. Also phosphorylates CFTR, EEF2K, KLC1, NOS3 and SLC12A1.',NULL,NULL,NULL,NULL,NULL),(13463,'UniProt Function',NULL,16121,NULL,'Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. When bound to KRT17, regulates protein synthesis and epithelial cell growth by stimulating Akt/mTOR pathway. May also regulate MDM2 autoubiquitination and degradation and thereby activate p53/TP53.',NULL,NULL,NULL,NULL,NULL),(13464,'UniProt Function',NULL,16121,NULL,'p53-regulated inhibitor of G2/M progression.',NULL,NULL,NULL,NULL,NULL),(13465,'UniProt Function',NULL,16122,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13466,'UniProt Function',NULL,16123,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(13467,'UniProt Function',NULL,16124,NULL,'Hydrolysis of 6-phosphogluconolactone to 6-phosphogluconate.',NULL,NULL,NULL,NULL,NULL),(13468,'UniProt Function',NULL,16125,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13469,'UniProt Function',NULL,16126,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13470,'UniProt Function',NULL,16128,NULL,'By binding to ENY2, interferes with the nuclear functions of the deubiquitinase (DUB) module of the SAGA complex which consists of ENY2, ATXN7, ATXN7L3 and the histone deubiquitinating component USP22. Affects USP22 DUB activity toward histones indirectly by changing the subcellular distribution of ENY2 and altering ENY2 availability for ATXN7L3 interaction. Regulates H2B monoubiquitination (H2Bub1) levels through cytoplasmic sequestration of ENY2 resulting in loss of nuclear ENY2-ATXN7L3 association which destabilizes ATXN7L3. Affects protein expression levels of ENY2 and ATXN7L3.',NULL,NULL,NULL,NULL,NULL),(13471,'UniProt Function',NULL,16129,NULL,'May play a role in preadipocyte differentiation and adipogenesis.',NULL,NULL,NULL,NULL,NULL),(13472,'UniProt Function',NULL,16130,NULL,'Lysophosphatidylserine (LPS) lipase that plays a key role in the central nervous system. Represents a major LPS lipase in the brain (By similarity). May also have a 2-arachidonoylglycerol (2-AG) hydrolase activity and act as a regulator of endocannabinoid signaling pathways.',NULL,NULL,NULL,NULL,NULL),(13473,'UniProt Function',NULL,16132,NULL,'Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair.',NULL,NULL,NULL,NULL,NULL),(13474,'UniProt Function',NULL,16133,NULL,'Plays a role in the transport of free very-long-chain fatty acids (VLCFAs) as well as their CoA-esters across the peroxisomal membrane by acting as an ATP-specific binding subunit releasing ADP after ATP hydrolysis (PubMed:15682271, PubMed:11248239, PubMed:16946495). Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation (PubMed:23671276). Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Controls also the cellular response to oxidative stress by regulating mitochondrial function like, mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity).',NULL,NULL,NULL,NULL,NULL),(13475,'UniProt Function',NULL,16135,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13476,'UniProt Function',NULL,16136,NULL,'As the regulatory component of the serine/threonine-protein phosphatase 2A (PP2A) holoenzyme, modulates substrate specificity, subcellular localization, and responsiveness to phosphorylation. The phosphorylated form mediates the interaction between PP2A and AKT1, leading to AKT1 dephosphorylation.',NULL,NULL,NULL,NULL,NULL),(13477,'UniProt Function',NULL,16137,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13478,'UniProt Function',NULL,16138,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13479,'UniProt Function',NULL,16139,NULL,'Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1.',NULL,NULL,NULL,NULL,NULL),(13480,'UniProt Function',NULL,16140,NULL,'Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate.',NULL,NULL,NULL,NULL,NULL),(13481,'UniProt Function',NULL,16141,NULL,'G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various alkaloids and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity.',NULL,NULL,NULL,NULL,NULL),(13482,'UniProt Function',NULL,16142,NULL,'Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Interaction between APP molecules on neighboring cells promotes synaptogenesis (PubMed:25122912). Involved in cell mobility and transcription regulation through protein-protein interactions. Can promote transcription activation through binding to APBB1-KAT5 and inhibits Notch signaling through interaction with Numb. Couples to apoptosis-inducing pathways such as those mediated by G(O) and JIP. Inhibits G(o) alpha ATPase activity (By similarity). Acts as a kinesin I membrane receptor, mediating the axonal transport of beta-secretase and presenilin 1. Involved in copper homeostasis/oxidative stress through copper ion reduction. In vitro, copper-metallated APP induces neuronal death directly or is potentiated through Cu(2+)-mediated low-density lipoprotein oxidation. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I and IV. The splice isoforms that contain the BPTI domain possess protease inhibitor activity. Induces a AGER-dependent pathway that involves activation of p38 MAPK, resulting in internalization of amyloid-beta peptide and leading to mitochondrial dysfunction in cultured cortical neurons. Provides Cu(2+) ions for GPC1 which are required for release of nitric oxide (NO) and subsequent degradation of the heparan sulfate chains on GPC1.',NULL,NULL,NULL,NULL,NULL),(13483,'UniProt Function',NULL,16142,NULL,'Amyloid-beta peptides are lipophilic metal chelators with metal-reducing activity. Bind transient metals such as copper, zinc and iron. In vitro, can reduce Cu(2+) and Fe(3+) to Cu(+) and Fe(2+), respectively. Amyloid-beta protein 42 is a more effective reductant than amyloid-beta protein 40. Amyloid-beta peptides bind to lipoproteins and apolipoproteins E and J in the CSF and to HDL particles in plasma, inhibiting metal-catalyzed oxidation of lipoproteins. APP42-beta may activate mononuclear phagocytes in the brain and elicit inflammatory responses. Promotes both tau aggregation and TPK II-mediated phosphorylation. Interaction with overexpressed HADH2 leads to oxidative stress and neurotoxicity. Also binds GPC1 in lipid rafts.',NULL,NULL,NULL,NULL,NULL),(13484,'UniProt Function',NULL,16142,NULL,'Appicans elicit adhesion of neural cells to the extracellular matrix and may regulate neurite outgrowth in the brain.',NULL,NULL,NULL,NULL,NULL),(13485,'UniProt Function',NULL,16142,NULL,'The gamma-CTF peptides as well as the caspase-cleaved peptides, including C31, are potent enhancers of neuronal apoptosis.',NULL,NULL,NULL,NULL,NULL),(13486,'UniProt Function',NULL,16142,NULL,'N-APP binds TNFRSF21 triggering caspase activation and degeneration of both neuronal cell bodies (via caspase-3) and axons (via caspase-6).',NULL,NULL,NULL,NULL,NULL),(13487,'UniProt Function',NULL,16143,NULL,'Probable transporter which may play a role in macrophage lipid homeostasis.',NULL,NULL,NULL,NULL,NULL),(13488,'UniProt Function',NULL,16144,NULL,'Plays a role in angiogenesis and cell migration. In smooth muscle cell migration, may act through the RhoA pathway.',NULL,NULL,NULL,NULL,NULL),(13489,'UniProt Function',NULL,16145,NULL,'Component of the U5 snRNP complex that is required for spliceosome assembly and for pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(13490,'UniProt Function',NULL,16146,NULL,'AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive.',NULL,NULL,NULL,NULL,NULL),(13491,'UniProt Function',NULL,16147,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13492,'UniProt Function',NULL,16148,NULL,'Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner (By similarity). Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm (PubMed:12917326).',NULL,NULL,NULL,NULL,NULL),(13493,'UniProt Function',NULL,16149,NULL,'Repressor of translation initiation involved in synaptic plasticity, learning and memory formation (By similarity). Regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form of EIF4EBP2 competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation (PubMed:25533957). EIF4EBP2 is enriched in brain and acts as a regulator of synapse activity and neuronal stem cell renewal via its ability to repress translation initiation (By similarity). Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways (By similarity).',NULL,NULL,NULL,NULL,NULL),(13494,'UniProt Function',NULL,16150,NULL,'Synthesizes the galactose-alpha(1,3)-galactose group on the glycosphingolipid isoglobotrihexosylceramide or isogloboside 3 (iGb3) by catalyzing the transfer of galactose from UDP-Galactose to its acceptor molecule Gal-beta-1,4-Glc-ceramide. Can also catalyze the addition of galactose to iGb3 itself to form polygalactose structures.',NULL,NULL,NULL,NULL,NULL),(13495,'UniProt Function',NULL,16151,NULL,'Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Regulates lipid synthesis by phosphorylating and inactivating lipid metabolic enzymes such as ACACA, ACACB, GYS1, HMGCR and LIPE; regulates fatty acid and cholesterol synthesis by phosphorylating acetyl-CoA carboxylase (ACACA and ACACB) and hormone-sensitive lipase (LIPE) enzymes, respectively. Regulates insulin-signaling and glycolysis by phosphorylating IRS1, PFKFB2 and PFKFB3. Involved in insulin receptor/INSR internalization (PubMed:25687571). AMPK stimulates glucose uptake in muscle by increasing the translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane, possibly by mediating phosphorylation of TBC1D4/AS160. Regulates transcription and chromatin structure by phosphorylating transcription regulators involved in energy metabolism such as CRTC2/TORC2, FOXO3, histone H2B, HDAC5, MEF2C, MLXIPL/ChREBP, EP300, HNF4A, p53/TP53, SREBF1, SREBF2 and PPARGC1A. Acts as a key regulator of glucose homeostasis in liver by phosphorylating CRTC2/TORC2, leading to CRTC2/TORC2 sequestration in the cytoplasm. In response to stress, phosphorylates \'Ser-36\' of histone H2B (H2BS36ph), leading to promote transcription. Acts as a key regulator of cell growth and proliferation by phosphorylating TSC2, RPTOR and ATG1/ULK1: in response to nutrient limitation, negatively regulates the mTORC1 complex by phosphorylating RPTOR component of the mTORC1 complex and by phosphorylating and activating TSC2. In response to nutrient limitation, promotes autophagy by phosphorylating and activating ATG1/ULK1. In that process also activates WDR45 (PubMed:28561066). AMPK also acts as a regulator of circadian rhythm by mediating phosphorylation of CRY1, leading to destabilize it. May regulate the Wnt signaling pathway by phosphorylating CTNNB1, leading to stabilize it. Also phosphorylates CFTR, EEF2K, KLC1, NOS3 and SLC12A1. Plays an important role in the differential regulation of pro-autophagy (composed of PIK3C3, BECN1, PIK3R4 and UVRAG or ATG14) and non-autophagy (composed of PIK3C3, BECN1 and PIK3R4) complexes, in response to glucose starvation. Can inhibit the non-autophagy complex by phosphorylating PIK3C3 and can activate the pro-autophagy complex by phosphorylating BECN1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13496,'UniProt Function',NULL,16152,NULL,'Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin.',NULL,NULL,NULL,NULL,NULL),(13497,'UniProt Function',NULL,16152,NULL,'Short peptide from AAT: reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its major physiological function is the protection of the lower respiratory tract against proteolytic destruction by human leukocyte elastase (HLE).',NULL,NULL,NULL,NULL,NULL),(13498,'UniProt Function',NULL,16153,NULL,'Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.',NULL,NULL,NULL,NULL,NULL),(13499,'UniProt Function',NULL,16155,NULL,'Possible role in granule neuron development.',NULL,NULL,NULL,NULL,NULL),(13500,'UniProt Function',NULL,16156,NULL,'ATP-dependent lipophilic drug transporter.',NULL,NULL,NULL,NULL,NULL),(13501,'UniProt Function',NULL,16157,NULL,'DNA deaminase (cytidine deaminase) with restriction activity against viruses, foreign DNA and mobility of retrotransposons. Exhibits antiviral activity against adeno-associated virus (AAV) and human T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. Selectively targets single-stranded DNA and can deaminate both methylcytosine and cytosine in foreign DNA. Can induce somatic hypermutation in the nuclear and mitochondrial DNA. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation.',NULL,NULL,NULL,NULL,NULL),(13502,'UniProt Function',NULL,16158,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13503,'UniProt Function',NULL,16159,NULL,'Does not catalyze the synthesis of 1-aminocyclopropane-1-carboxylate but is capable of catalyzing the deamination of L-vinylglycine.',NULL,NULL,NULL,NULL,NULL),(13504,'UniProt Function',NULL,16160,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13505,'UniProt Function',NULL,16161,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13506,'UniProt Function',NULL,16162,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13507,'UniProt Function',NULL,16163,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(13508,'UniProt Function',NULL,16164,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13509,'UniProt Function',NULL,16165,NULL,'G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances, including ergot alkaloid derivatives, 1-2,5,-dimethoxy-4-iodophenyl-2-aminopropane (DOI) and lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling activates a phosphatidylinositol-calcium second messenger system that modulates the activity of phosphatidylinositol 3-kinase and down-stream signaling cascades and promotes the release of Ca(2+) ions from intracellular stores. Regulates neuronal activity via the activation of short transient receptor potential calcium channels in the brain, and thereby modulates the activation of pro-opiomelacortin neurons and the release of CRH that then regulates the release of corticosterone. Plays a role in the regulation of appetite and eating behavior, responses to anxiogenic stimuli and stress. Plays a role in insulin sensitivity and glucose homeostasis.',NULL,NULL,NULL,NULL,NULL),(13510,'UniProt Function',NULL,16166,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13511,'UniProt Function',NULL,16168,NULL,'Hydrolyzes extracellular nucleotides into membrane permeable nucleosides. Exhibits AMP-, NAD-, and NMN-nucleosidase activities.',NULL,NULL,NULL,NULL,NULL),(13512,'UniProt Function',NULL,16169,NULL,'Catalyzes the oxidative decarboxylation of 6-phosphogluconate to ribulose 5-phosphate and CO(2), with concomitant reduction of NADP to NADPH.',NULL,NULL,NULL,NULL,NULL),(13513,'UniProt Function',NULL,16170,NULL,'Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase.',NULL,NULL,NULL,NULL,NULL),(13514,'UniProt Function',NULL,16171,NULL,'Transaminase with broad substrate specificity. Has transaminase activity towards aminoadipate, kynurenine, methionine and glutamate. Shows activity also towards tryptophan, aspartate and hydroxykynurenine. Accepts a variety of oxo-acids as amino-group acceptors, with a preference for 2-oxoglutarate, 2-oxocaproic acid, phenylpyruvate and alpha-oxo-gamma-methiol butyric acid. Can also use glyoxylate as amino-group acceptor (in vitro).',NULL,NULL,NULL,NULL,NULL),(13515,'UniProt Function',NULL,16172,NULL,'Has hydrolase activity towards p-nitrophenyl butyrate (in vitro). May activate transcription.',NULL,NULL,NULL,NULL,NULL),(13516,'UniProt Function',NULL,16174,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(13517,'UniProt Function',NULL,16174,NULL,'(Microbial infection) Acts as a receptor for Epstein-Barr virus on lymphocytes.',NULL,NULL,NULL,NULL,NULL),(13518,'UniProt Function',NULL,16175,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13519,'UniProt Function',NULL,16176,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13520,'UniProt Function',NULL,16180,NULL,'Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans (PubMed:10430883). Necessary for the synthesis of type III mucin which is specifically produced in the stomach, duodenum, and pancreatic duct (PubMed:10430883). May protect against inflammation-associated gastric adenocarcinomas (By similarity).',NULL,NULL,NULL,NULL,NULL),(13521,'UniProt Function',NULL,16181,NULL,'Biosynthesis of L-glutamate from L-aspartate or L-cysteine. Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is converted into H(2)S via the action of 3-mercaptopyruvate sulfurtransferase (3MST). Hydrogen sulfide is an important synaptic modulator and neuroprotectant in the brain.',NULL,NULL,NULL,NULL,NULL),(13522,'UniProt Function',NULL,16182,NULL,'Dephosphorylates the 5\' and 2\'(3\')-phosphates of deoxyribonucleotides and has a broad substrate specificity. Helps to regulate adenosine levels in heart during ischemia and hypoxia.',NULL,NULL,NULL,NULL,NULL),(13523,'UniProt Function',NULL,16183,NULL,'Dephosphorylates the 5\' and 2\'(3\')-phosphates of deoxyribonucleotides. Helps to regulate adenosine levels (By similarity).',NULL,NULL,NULL,NULL,NULL),(13524,'UniProt Function',NULL,16184,NULL,'The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit.',NULL,NULL,NULL,NULL,NULL),(13525,'UniProt Function',NULL,16185,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(13526,'UniProt Function',NULL,16186,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13527,'UniProt Function',NULL,16187,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13528,'UniProt Function',NULL,16188,NULL,'Functions as transport protein in the blood stream. Binds various ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability in the body. Appears to function in modulating the activity of the immune system during the acute-phase reaction.',NULL,NULL,NULL,NULL,NULL),(13529,'UniProt Function',NULL,16189,NULL,'Displays cellular triglyceride lipase activity in liver, increases the levels of intracellular fatty acids derived from the hydrolysis of newly formed triglyceride stores and plays a role in very low-density lipoprotein assembly. Displays serine esterase activity in liver. Deacetylates a variety of arylacetamide substrates, including xenobiotic compounds and procarcinogens, converting them to the primary arylamide compounds and increasing their toxicity.',NULL,NULL,NULL,NULL,NULL),(13530,'UniProt Function',NULL,16190,NULL,'In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.',NULL,NULL,NULL,NULL,NULL),(13531,'UniProt Function',NULL,16191,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13532,'UniProt Function',NULL,16192,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13533,'UniProt Function',NULL,16193,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13534,'UniProt Function',NULL,16194,NULL,'G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling inhibits adenylate cyclase activity and activates a phosphatidylinositol-calcium second messenger system that regulates the release of Ca(2+) ions from intracellular stores. Plays a role in the regulation of 5-hydroxytryptamine release and in the regulation of dopamine and 5-hydroxytryptamine metabolism. Plays a role in the regulation of dopamine and 5-hydroxytryptamine levels in the brain, and thereby affects neural activity, mood and behavior. Plays a role in the response to anxiogenic stimuli.',NULL,NULL,NULL,NULL,NULL),(13535,'UniProt Function',NULL,16195,NULL,'Isoform 2: Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase (PubMed:8234299).',NULL,NULL,NULL,NULL,NULL),(13536,'UniProt Function',NULL,16195,NULL,'Isoform 1: Plays a suppressive role in osteosarcoma malignancy by inhibiting NF-kappa-B activity (PubMed:27886186).',NULL,NULL,NULL,NULL,NULL),(13537,'UniProt Function',NULL,16197,NULL,'This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses in neurons. It is a cation-specific, but otherwise relatively nonselective, ion channel.',NULL,NULL,NULL,NULL,NULL),(13538,'UniProt Function',NULL,16198,NULL,'This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel.',NULL,NULL,NULL,NULL,NULL),(13539,'UniProt Function',NULL,16199,NULL,'This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase. It has a high affinity for tricyclic psychotropic drugs (By similarity). Controls pyramidal neurons migration during corticogenesis, through the regulation of CDK5 activity (By similarity). Is an activator of TOR signaling (PubMed:23027611).',NULL,NULL,NULL,NULL,NULL),(13540,'UniProt Function',NULL,16200,NULL,'Activates acetoacetate to acetoacetyl-CoA. May be involved in utilizing ketone body for the fatty acid-synthesis during adipose tissue development (By similarity).',NULL,NULL,NULL,NULL,NULL),(13541,'UniProt Function',NULL,16202,NULL,'May be involved in endocytic recycling of growth factor receptors such as EGFR.',NULL,NULL,NULL,NULL,NULL),(13542,'UniProt Function',NULL,16203,NULL,'GTPase activating protein (GAP) which specifically converts GTP-bound Rho-type GTPases including RAC1 and CDC42 in their inactive GDP-bound form. By specifically inactivating RAC1 at the leading edge of migrating cells, it regulates the spatiotemporal organization of cell protrusions which is important for proper cell migration (PubMed:21658605). Also negatively regulates CDC42 in the process of actin remodeling and the formation of epithelial cell junctions (PubMed:22891260). Through its GAP activity toward RAC1 and/or CDC42 plays a specific role in phagocytosis of large particles. Specifically recruited by a PI3 kinase/PI3K-dependent mechanism to sites of large particles engagement, inactivates RAC1 and/or CDC42 allowing the reorganization of the underlying actin cytoskeleton required for engulfment (PubMed:26465210). It also plays a role in angiogenesis and the process of repulsive guidance as part of a semaphorin-plexin signaling pathway. Following the binding of PLXND1 to extracellular SEMA3E it dissociates from PLXND1 and inactivates RAC1, inducing the intracellular reorganization of the actin cytoskeleton and the collapse of cells (PubMed:24841563).',NULL,NULL,NULL,NULL,NULL),(13543,'UniProt Function',NULL,16204,NULL,'Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1.',NULL,NULL,NULL,NULL,NULL),(13544,'UniProt Function',NULL,16205,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13545,'UniProt Function',NULL,16206,NULL,'Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP) (PubMed:24603684). CMP seems to be the preferred substrate (PubMed:15968458).',NULL,NULL,NULL,NULL,NULL),(13546,'UniProt Function',NULL,16207,NULL,'Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127).',NULL,NULL,NULL,NULL,NULL),(13547,'UniProt Function',NULL,16208,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13548,'UniProt Function',NULL,16210,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13549,'UniProt Function',NULL,16211,NULL,'Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism.',NULL,NULL,NULL,NULL,NULL),(13550,'UniProt Function',NULL,16212,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(13551,'UniProt Function',NULL,16213,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13552,'UniProt Function',NULL,16214,NULL,'Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading.',NULL,NULL,NULL,NULL,NULL),(13553,'UniProt Function',NULL,16215,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13554,'UniProt Function',NULL,16216,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13555,'UniProt Function',NULL,16217,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13556,'UniProt Function',NULL,16218,NULL,'G-protein coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:8143856, PubMed:7926008, PubMed:8078486, PubMed:8882600, PubMed:18703043, PubMed:23519210). Also functions as a receptor for various ergot alkaloid derivatives and psychoactive substances (PubMed:8143856, PubMed:7926008, PubMed:8078486, PubMed:12970106, PubMed:18703043, PubMed:23519210, PubMed:23519215, PubMed:24357322, PubMed:28129538). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors (PubMed:8143856, PubMed:8078486, PubMed:8882600, PubMed:23519215, PubMed:28129538). Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways (PubMed:23519215, PubMed:28129538). Signaling activates a phosphatidylinositol-calcium second messenger system that modulates the activity of phosphatidylinositol 3-kinase and down-stream signaling cascades and promotes the release of Ca(2+) ions from intracellular stores (PubMed:8143856, PubMed:8078486, PubMed:8882600, PubMed:18703043, PubMed:23519215, PubMed:28129538). Plays a role in the regulation of dopamine and 5-hydroxytryptamine release, 5-hydroxytryptamine uptake and in the regulation of extracellular dopamine and 5-hydroxytryptamine levels, and thereby affects neural activity. May play a role in the perception of pain (By similarity). Plays a role in the regulation of behavior, including impulsive behavior (PubMed:21179162). Required for normal proliferation of embryonic cardiac myocytes and normal heart development. Protects cardiomyocytes against apoptosis. Plays a role in the adaptation of pulmonary arteries to chronic hypoxia. Plays a role in vasoconstriction. Required for normal osteoblast function and proliferation, and for maintaining normal bone density. Required for normal proliferation of the interstitial cells of Cajal in the intestine (By similarity).',NULL,NULL,NULL,NULL,NULL),(13557,'UniProt Function',NULL,16219,NULL,'Involved in the presentation of foreign antigens to the immune system.',NULL,NULL,NULL,NULL,NULL),(13558,'UniProt Function',NULL,16220,NULL,'Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase-3/TMPRSS7 and chymotrypsin.',NULL,NULL,NULL,NULL,NULL),(13559,'UniProt Function',NULL,16221,NULL,'Plays an essential role in autophagy: interacts with ATG12-ATG5 to mediate the conjugation of phosphatidylethanolamine (PE) to LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C), to produce a membrane-bound activated form of LC3 named LC3-II. Thereby, controls the elongation of the nascent autophagosomal membrane (PubMed:24553140, PubMed:23376921, PubMed:24954904, PubMed:27273576, PubMed:23392225). Regulates mitochondrial antiviral signaling (MAVS)-dependent type I interferon (IFN-I) production (PubMed:25645662). Negatively regulates NOD1- and NOD2-driven inflammatory cytokine response (PubMed:24238340). Instead, promotes with NOD2 an autophagy-dependent antibacterial pathway (PubMed:20637199). Plays a role in regulating morphology and function of Paneth cell (PubMed:18849966).',NULL,NULL,NULL,NULL,NULL),(13560,'UniProt Function',NULL,16222,NULL,'Functions as transport protein in the blood stream. Binds various hydrophobic ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability. Appears to function in modulating the activity of the immune system during the acute-phase reaction.',NULL,NULL,NULL,NULL,NULL),(13561,'UniProt Function',NULL,16223,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits apoptosis by ubiquitinating and targeting for degradation a number of proapoptotic proteins including DIABLO/SMAC, HTRA2 and SEPT4/ARTS which are released from the mitochondrion into the cytosol following apoptotic stimulation.',NULL,NULL,NULL,NULL,NULL),(13562,'UniProt Function',NULL,16224,NULL,'GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus.',NULL,NULL,NULL,NULL,NULL),(13563,'UniProt Function',NULL,16225,NULL,'May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. Involved in neurotrophin-induced neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(13564,'UniProt Function',NULL,16226,NULL,'Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases.',NULL,NULL,NULL,NULL,NULL),(13565,'UniProt Function',NULL,16227,NULL,'Transcription coactivator that binds to the 5\'-AATA[CT]-3\' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated \'Lys-9\' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. Required for adipogenesis: regulates triglyceride metabolism in adipocytes by regulating expression of adipogenic genes. Overexpression leads to induction of smooth muscle marker genes, suggesting that it may also act as a regulator of smooth muscle cell differentiation and proliferation. Represses the cytomegalovirus enhancer.',NULL,NULL,NULL,NULL,NULL),(13566,'UniProt Function',NULL,16228,NULL,'Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(13567,'UniProt Function',NULL,16231,NULL,'Saccharide- and LPS-binding protein with possible roles in pathogen sensing and endotoxin neutralization. Ligand-binding specificity relates to the length of the oligosaccharides, with preference for chitotetraose (in vitro).',NULL,NULL,NULL,NULL,NULL),(13568,'UniProt Function',NULL,16232,NULL,'Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form.',NULL,NULL,NULL,NULL,NULL),(13569,'UniProt Function',NULL,16233,NULL,'O-methyltransferase that methylates glutamate residues of target proteins to form gamma-glutamyl methyl ester residues. Methylates PCNA, suggesting it is involved in the DNA damage response.',NULL,NULL,NULL,NULL,NULL),(13570,'UniProt Function',NULL,16234,NULL,'GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance.',NULL,NULL,NULL,NULL,NULL),(13571,'UniProt Function',NULL,16239,NULL,'Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest and activation of DNA repair in response to the presence of DNA damage or unreplicated DNA. May also negatively regulate cell cycle progression during unperturbed cell cycles. This regulation is achieved by a number of mechanisms that together help to preserve the integrity of the genome. Recognizes the substrate consensus sequence [R-X-X-S/T]. Binds to and phosphorylates CDC25A, CDC25B and CDC25C. Phosphorylation of CDC25A at \'Ser-178\' and \'Thr-507\' and phosphorylation of CDC25C at \'Ser-216\' creates binding sites for 14-3-3 proteins which inhibit CDC25A and CDC25C. Phosphorylation of CDC25A at \'Ser-76\', \'Ser-124\', \'Ser-178\', \'Ser-279\' and \'Ser-293\' promotes proteolysis of CDC25A. Phosphorylation of CDC25A at \'Ser-76\' primes the protein for subsequent phosphorylation at \'Ser-79\', \'Ser-82\' and \'Ser-88\' by NEK11, which is required for polyubiquitination and degradation of CDCD25A. Inhibition of CDC25 leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. Also phosphorylates NEK6. Binds to and phosphorylates RAD51 at \'Thr-309\', which promotes the release of RAD51 from BRCA2 and enhances the association of RAD51 with chromatin, thereby promoting DNA repair by homologous recombination. Phosphorylates multiple sites within the C-terminus of TP53, which promotes activation of TP53 by acetylation and promotes cell cycle arrest and suppression of cellular proliferation. Also promotes repair of DNA cross-links through phosphorylation of FANCE. Binds to and phosphorylates TLK1 at \'Ser-743\', which prevents the TLK1-dependent phosphorylation of the chromatin assembly factor ASF1A. This may enhance chromatin assembly both in the presence or absence of DNA damage. May also play a role in replication fork maintenance through regulation of PCNA. May regulate the transcription of genes that regulate cell-cycle progression through the phosphorylation of histones. Phosphorylates histone H3.1 (to form H3T11ph), which leads to epigenetic inhibition of a subset of genes. May also phosphorylate RB1 to promote its interaction with the E2F family of transcription factors and subsequent cell cycle arrest.',NULL,NULL,NULL,NULL,NULL),(13572,'UniProt Function',NULL,16239,NULL,'Isoform 2: Endogenous repressor of isoform 1, interacts with, and antagonizes CHK1 to promote the S to G2/M phase transition.',NULL,NULL,NULL,NULL,NULL),(13573,'UniProt Function',NULL,16240,NULL,'Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis.',NULL,NULL,NULL,NULL,NULL),(13574,'UniProt Function',NULL,16241,NULL,'Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T]. Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activity leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. May also phosphorylate NEK6 which is involved in G2/M cell cycle arrest. Regulates DNA repair through phosphorylation of BRCA2, enhancing the association of RAD51 with chromatin which promotes DNA repair by homologous recombination. Also stimulates the transcription of genes involved in DNA repair (including BRCA2) through the phosphorylation and activation of the transcription factor FOXM1. Regulates apoptosis through the phosphorylation of p53/TP53, MDM4 and PML. Phosphorylation of p53/TP53 at \'Ser-20\' by CHEK2 may alleviate inhibition by MDM2, leading to accumulation of active p53/TP53. Phosphorylation of MDM4 may also reduce degradation of p53/TP53. Also controls the transcription of pro-apoptotic genes through phosphorylation of the transcription factor E2F1. Tumor suppressor, it may also have a DNA damage-independent function in mitotic spindle assembly by phosphorylating BRCA1. Its absence may be a cause of the chromosomal instability observed in some cancer cells. Promotes the CCAR2-SIRT1 association and is required for CCAR2-mediated SIRT1 inhibition (PubMed:25361978).',NULL,NULL,NULL,NULL,NULL),(13575,'UniProt Function',NULL,16242,NULL,'Has a key role in phospholipid biosynthesis and may contribute to tumor cell growth. Catalyzes the first step in phosphatidylcholine biosynthesis. Contributes to phosphatidylethanolamine biosynthesis. Phosphorylates choline and ethanolamine. Has higher activity with choline.',NULL,NULL,NULL,NULL,NULL),(13576,'UniProt Function',NULL,16243,NULL,'Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin. May play a role in stable cell cycle progression and in PcG gene silencing.',NULL,NULL,NULL,NULL,NULL),(13577,'UniProt Function',NULL,16244,NULL,'Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B and SPAST to the midbody of dividing cells. Involved in HIV-1 p6- and p9-dependent virus release.',NULL,NULL,NULL,NULL,NULL),(13578,'UniProt Function',NULL,16245,NULL,'Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:21310966). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4.',NULL,NULL,NULL,NULL,NULL),(13579,'UniProt Function',NULL,16245,NULL,'(Microbial infection) The ESCRT machinery functions in topologically equivalent membrane fission events, such as the budding of enveloped viruses (HIV-1 and other lentiviruses). Involved in HIV-1 p6- and p9-dependent virus release.',NULL,NULL,NULL,NULL,NULL),(13580,'UniProt Function',NULL,16246,NULL,'Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4.',NULL,NULL,NULL,NULL,NULL),(13581,'UniProt Function',NULL,16247,NULL,'Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released (PubMed:12860994, PubMed:18209100). The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:21310966). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Plays a role in the endosomal sorting pathway. ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. When overexpressed, membrane-assembled circular arrays of CHMP4B filaments can promote or stabilize negative curvature and outward budding. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(13582,'UniProt Function',NULL,16247,NULL,'(Microbial infection) The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the budding of enveloped viruses (HIV-1 and other lentiviruses). Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release.',NULL,NULL,NULL,NULL,NULL),(13583,'UniProt Function',NULL,16248,NULL,'Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidences are required to confirm these data.',NULL,NULL,NULL,NULL,NULL),(13584,'UniProt Function',NULL,16249,NULL,'Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also acts as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Required for EPB41L4B-mediated regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950).',NULL,NULL,NULL,NULL,NULL),(13585,'UniProt Function',NULL,16252,NULL,'Involved in fetal development, T-cell function and adrenal gland growth homeostasis (By similarity). Negatively regulates adrenal cells survival. Plays a role in steroidogenesis, modulates steroidogenic enzymes expression and cortisol production (PubMed:24283224, PubMed:28676429).',NULL,NULL,NULL,NULL,NULL),(13586,'UniProt Function',NULL,16253,NULL,'Required for ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(13587,'UniProt Function',NULL,16254,NULL,'Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity.',NULL,NULL,NULL,NULL,NULL),(13588,'UniProt Function',NULL,16255,NULL,'Regulates the G1/S phase transition of the cell cycle by binding and activating CDK1 and CDK2 (PubMed:12972555). Contributes to CDK2 activation without promoting CDK2 phosphorylation, by inducing a conformation change of the CDK2 T-loop that obstructs the substrate-binding cleft prior to kinase activation (PubMed:28666995). Mediates cell survival during the DNA damage process through activation of CDK2 (PubMed:12839962).',NULL,NULL,NULL,NULL,NULL),(13589,'UniProt Function',NULL,16256,NULL,'Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:14699129, PubMed:14738735). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:14738735, PubMed:14699129). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020).',NULL,NULL,NULL,NULL,NULL),(13590,'UniProt Function',NULL,16261,NULL,'Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR).',NULL,NULL,NULL,NULL,NULL),(13591,'UniProt Function',NULL,16262,NULL,'Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(13592,'UniProt Function',NULL,16263,NULL,'Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in ITM2B and TNF processing (PubMed:16829952, PubMed:16829951, PubMed:17965014, PubMed:19114711, PubMed:22194595). Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus (PubMed:16829952, PubMed:16829951). May play a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus processed leader peptide gp18 of the envelope glycoprotein gp130 dependently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852).',NULL,NULL,NULL,NULL,NULL),(13593,'UniProt Function',NULL,16264,NULL,'Cross-linked envelope protein of keratinocytes. Involved in UV-induced cornification.',NULL,NULL,NULL,NULL,NULL),(13594,'UniProt Function',NULL,16265,NULL,'Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3, involved in ubiquitination and proteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3. In complex with CUL3, involved in ubiquitination of H2AFY and BMI1; this does not lead to their proteasomal degradation. Inhibits transcriptional activation of PDX1/IPF1 targets, such as insulin, by promoting PDX1/IPF1 degradation. The cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing homodimeric SPOP has higher ubiquitin ligase activity than the complex that contains the heterodimer formed by SPOP and SPOPL.',NULL,NULL,NULL,NULL,NULL),(13595,'UniProt Function',NULL,16266,NULL,'May be a substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(13596,'UniProt Function',NULL,16268,NULL,'Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with TOP6BL, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles. Essential for the phosphorylation of SMC3, HORMAD1 and HORMAD2.',NULL,NULL,NULL,NULL,NULL),(13597,'UniProt Function',NULL,16269,NULL,'May be involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.',NULL,NULL,NULL,NULL,NULL),(13598,'UniProt Function',NULL,16270,NULL,'Functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. May function in neuronal cells differentiation. May play a role in vesicular transport from endoplasmic reticulum to Golgi.',NULL,NULL,NULL,NULL,NULL),(13599,'UniProt Function',NULL,16271,NULL,'Plays a role as a central modulator of cardiovascular and renal function and nociception. Plays also a role in energy metabolism and storage. Inhibits adrenocortical cell proliferation with minor stimulation on corticosteroid release (By similarity).',NULL,NULL,NULL,NULL,NULL),(13600,'UniProt Function',NULL,16271,NULL,'Spexin-1: Intracerebroventricular administration of the peptide induces an increase in arterial blood pressure, a decrease in both heart rate and renal excretion and delayed natriuresis. Intraventricular administration of the peptide induces antinociceptive activity. Also induces contraction of muscarinic-like stomach smooth muscles. Intraperitoneal administration of the peptide induces a reduction in food consumption and body weight. Inhibits long chain fatty acid uptake into adipocytes (By similarity). Acts as a ligand for galanin receptors GALR2 and GALR3 (PubMed:17284679, PubMed:24517231).',NULL,NULL,NULL,NULL,NULL),(13601,'UniProt Function',NULL,16271,NULL,'Spexin-2: Intracerebroventricular administration of the peptide induces a decrease in heart rate, but no change in arterial pressure, and an increase in urine flow rate. Intraventricular administration of the peptide induces antinociceptive activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(13602,'UniProt Function',NULL,16273,NULL,'May bind tubulin but has no microtubule bundling activity.',NULL,NULL,NULL,NULL,NULL),(13603,'UniProt Function',NULL,16274,NULL,'Presynaptic protein involved in the synaptic transmission tuning. Regulates synaptic release probability by decreasing the calcium sensitivity of release.',NULL,NULL,NULL,NULL,NULL),(13604,'UniProt Function',NULL,16275,NULL,'Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs, plays a role in the establishment of nuclear-peripheral chromatin compartmentalization in interphase, and in the mitotic spindle checkpoint signaling during mitosis. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with NUP153, regulates the nuclear export of unspliced mRNA species bearing constitutive transport element (CTE) in a NXF1- and KHDRBS1-independent manner. Negatively regulates both the association of CTE-containing mRNA with large polyribosomes and translation initiation. Does not play any role in Rev response element (RRE)-mediated export of unspliced mRNAs. Implicated in nuclear export of mRNAs transcribed from heat shock gene promoters; associates both with chromatin in the HSP70 promoter and with mRNAs transcribed from this promoter under stress-induced conditions. Modulates the nucleocytoplasmic transport of activated MAPK1/ERK2 and huntingtin/HTT and may serve as a docking site for the XPO1/CRM1-mediated nuclear export complex. According to some authors, plays a limited role in the regulation of nuclear protein export (PubMed:22253824 and PubMed:11952838). Plays also a role as a structural and functional element of the perinuclear chromatin distribution; involved in the formation and/or maintenance of NPC-associated perinuclear heterochromatin exclusion zones (HEZs). Finally, acts as a spatial regulator of the spindle-assembly checkpoint (SAC) response ensuring a timely and effective recruitment of spindle checkpoint proteins like MAD1L1 and MAD2L1 to unattached kinetochore during the metaphase-anaphase transition before chromosome congression. Its N-terminus is involved in activation of oncogenic kinases.',NULL,NULL,NULL,NULL,NULL),(13605,'UniProt Function',NULL,16276,NULL,'Contributes to oxidative stress resistance by reducing cysteine-sulfinic acid formed under exposure to oxidants in the peroxiredoxins PRDX1, PRDX2, PRDX3 and PRDX4. Does not act on PRDX5 or PRDX6. May catalyze the reduction in a multi-step process by acting both as a specific phosphotransferase and a thioltransferase.',NULL,NULL,NULL,NULL,NULL),(13606,'UniProt Function',NULL,16277,NULL,'Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May be involved in cytoskeletal organization and tumorogenicity. Isoform 1 seems to be involved in a signaling transduction pathway leading to activation of MAPK1/ERK2. Isoform 3 may block ERK2 activation stimulated by ABL1. Isoform 3 may alter cell morphology and cell growth.',NULL,NULL,NULL,NULL,NULL),(13607,'UniProt Function',NULL,16280,NULL,'Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Mediates cellular responses to ERBB4. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the GAS element and activates PRL-induced transcription. Regulates the expression of milk proteins during lactation.',NULL,NULL,NULL,NULL,NULL),(13608,'UniProt Function',NULL,16282,NULL,'May play a protective role in mucosal tissues by preventing exaggerated allergic responses.',NULL,NULL,NULL,NULL,NULL),(13609,'UniProt Function',NULL,16283,NULL,'Phosphatidylserine receptor that enhances the engulfment of apoptotic cells. Hyaluronan receptor that binds to and mediates endocytosis of hyaluronic acid (HA). Acts also, in different species, as a primary systemic scavenger receptor for heparin (Hep), chondroitin sulfate (CS), dermatan sulfate (DS), nonglycosaminoglycan (GAG), acetylated low-density lipoprotein (AcLDL), pro-collagen propeptides and advanced glycation end products (AGE). May serve to maintain tissue integrity by supporting extracellular matrix turnover or it may contribute to maintaining fluidity of bodily liquids by resorption of hyaluronan. Counter receptor which plays an important role in lymphocyte recruitment in the hepatic vasculature. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. The proteolytically processed 190 kDa form also functions as an endocytosis receptor for heparin internalisation as well as HA and CS.',NULL,NULL,NULL,NULL,NULL),(13610,'UniProt Function',NULL,16285,NULL,'Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes (By similarity).',NULL,NULL,NULL,NULL,NULL),(13611,'UniProt Function',NULL,16286,NULL,'May play a role in vesicle trafficking and exocytosis.',NULL,NULL,NULL,NULL,NULL),(13612,'UniProt Function',NULL,16287,NULL,'May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity).',NULL,NULL,NULL,NULL,NULL),(13613,'UniProt Function',NULL,16288,NULL,'Has an anti-hypocalcemic action on calcium and phosphate homeostasis.',NULL,NULL,NULL,NULL,NULL),(13614,'UniProt Function',NULL,16289,NULL,'Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor (By similarity).',NULL,NULL,NULL,NULL,NULL),(13615,'UniProt Function',NULL,16290,NULL,'Endosomal ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells. Participates in erythroid iron homeostasis by reducing Fe(3+) to Fe(2+). Can also reduce of Cu(2+) to Cu(1+), suggesting that it participates in copper homeostasis. Uses NADP(+) as acceptor. May play a role downstream of p53/TP53 to interface apoptosis and cell cycle progression. Indirectly involved in exosome secretion by facilitating the secretion of proteins such as TCTP.',NULL,NULL,NULL,NULL,NULL),(13616,'UniProt Function',NULL,16291,NULL,'Binds double-stranded RNA (regardless of the sequence) and tubulin. May play a role in specific positioning of mRNAs at given sites in the cell by cross-linking cytoskeletal and RNA components, and in stimulating their translation at the site.',NULL,NULL,NULL,NULL,NULL),(13617,'UniProt Function',NULL,16292,NULL,'Major cellular 3\'-to-5\' DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3\' termini. Prevents cell-intrinsic initiation of autoimmunity. Acts by metabolizing DNA fragments from endogenous retroelements, including L1, LTR and SINE elements. Unless degraded, these DNA fragments accumulate in the cytosol and activate the IFN-stimulatory DNA (ISD) response and innate immune signaling. Prevents chronic ATM-dependent checkpoint activation, by processing ssDNA polynucleotide species arising from the processing of aberrant DNA replication intermediates. Inefficiently degrades oxidized DNA, such as that generated upon antimicrobial reactive oxygen production or upon absorption of UV light. During GZMA-mediated cell death, contributes to DNA damage in concert with NME1. NME1 nicks one strand of DNA and TREX1 removes bases from the free 3\' end to enhance DNA damage and prevent DNA end reannealing and rapid repair.',NULL,NULL,NULL,NULL,NULL),(13618,'UniProt Function',NULL,16293,NULL,'Exonuclease with a preference for double-stranded DNA with mismatched 3\' termini. May play a role in DNA repair.',NULL,NULL,NULL,NULL,NULL),(13619,'UniProt Function',NULL,16294,NULL,'Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+) (By similarity). Uses NADP(+) as acceptor (By similarity). Plays a role in systemic metabolic homeostasis, integrating inflammatory and metabolic responses (By similarity). Associated with obesity and insulin-resistance (PubMed:18430367, PubMed:18381574). Involved in inflammatory arthritis, through the regulation of inflammatory cytokines (PubMed:19660107). Inhibits anchorage-independent cell proliferation (PubMed:19787193).',NULL,NULL,NULL,NULL,NULL),(13620,'UniProt Function',NULL,16295,NULL,'Acts as a co-chaperone for HSP90AA1 (PubMed:27353360). Mediates the association of the molecular chaperones HSPA8/HSC70 and HSP90 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13621,'UniProt Function',NULL,16296,NULL,'Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate.',NULL,NULL,NULL,NULL,NULL),(13622,'UniProt Function',NULL,16296,NULL,'Lactotransferrin is a major iron-binding and multifunctional protein found in exocrine fluids such as breast milk and mucosal secretions. Has antimicrobial activity, which depends on the extracellular cation concentration. Antimicrobial properties include bacteriostasis, which is related to its ability to sequester free iron and thus inhibit microbial growth, as well as direct bactericidal properties leading to the release of lipopolysaccharides from the bacterial outer membrane. Can also prevent bacterial biofilm development in P.aeruginosa infection. Has weak antifungal activity against C.albicans. Has anabolic, differentiating and anti-apoptotic effects on osteoblasts and can also inhibit osteoclastogenesis, possibly playing a role in the regulation of bone growth. Promotes binding of species C adenoviruses to epithelial cells, promoting adenovirus infection. Can inhibit papillomavirus infections. Stimulates the TLR4 signaling pathway leading to NF-kappa-B activation and subsequent pro-inflammatory cytokine production while also interfering with the lipopolysaccharide (LPS)-stimulated TLR4 signaling. Inhibits neutrophil granulocyte migration to sites of apoptosis, when secreted by apoptotic cells. Stimulates VEGFA-mediated endothelial cell migration and proliferation. Binds heparin, chondroitin sulfate and possibly other glycosaminoglycans (GAGs). Also binds specifically to pneumococcal surface protein A (pspA), the lipid A portion of bacterial lipopolysaccharide (LPS), lysozyme and DNA.',NULL,NULL,NULL,NULL,NULL),(13623,'UniProt Function',NULL,16296,NULL,'Lactoferricin binds to the bacterial surface and is crucial for the bactericidal functions. Has some antiviral activity against papillomavirus infection. N-terminal region shows strong antifungal activity against C.albicans. Contains two BBXB heparin-binding consensus sequences that appear to form the predominate functional GAG-binding site.',NULL,NULL,NULL,NULL,NULL),(13624,'UniProt Function',NULL,16296,NULL,'Kaliocin-1 has antimicrobial activity and is able to permeabilize different ions through liposomal membranes.',NULL,NULL,NULL,NULL,NULL),(13625,'UniProt Function',NULL,16296,NULL,'Lactoferroxins A, B and C have opioid antagonist activity. Lactoferroxin A shows preference for mu-receptors, while lactoferroxin B and C have somewhat higher degrees of preference for kappa-receptors than for mu-receptors.',NULL,NULL,NULL,NULL,NULL),(13626,'UniProt Function',NULL,16296,NULL,'The lactotransferrin transferrin-like domain 1 functions as a serine protease of the peptidase S60 family that cuts arginine rich regions. This function contributes to the antimicrobial activity. Shows a preferential cleavage at -Arg-Ser-Arg-Arg-|- and -Arg-Arg-Ser-Arg-|-, and of Z-Phe-Arg-|-aminomethylcoumarin sites.',NULL,NULL,NULL,NULL,NULL),(13627,'UniProt Function',NULL,16296,NULL,'Isoform DeltaLf: transcription factor with antiproliferative properties and ability to induce cell cycle arrest. Binds to the DeltaLf response element found in the SKP1, BAX, DCPS, and SELENOH promoters.',NULL,NULL,NULL,NULL,NULL),(13628,'UniProt Function',NULL,16298,NULL,'Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3\' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22964711, PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Required for efficicient replication of the duplex region of the telomere. Promotes efficient replication of lagging-strand telomeres (PubMed:22863775, PubMed:22964711). Promotes general replication start following replication-fork stalling implicating new origin firing (PubMed:22863775). May be in involved in C-strand fill-in during late S/G2 phase independent of its role in telomere duplex replication (PubMed:23142664).',NULL,NULL,NULL,NULL,NULL),(13629,'UniProt Function',NULL,16298,NULL,'Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites.',NULL,NULL,NULL,NULL,NULL),(13630,'UniProt Function',NULL,16300,NULL,'E3 ubiquitin ligase that plays an essential role in the organization of autophagic response and ubiquitination upon lysosomal and phagosomal damages. Plays a role in the stress-induced biogenesis and degradation of protein aggresomes by regulating the p62-KEAP1-NRF2 signaling and particularly by modulating the ubiquitination levels and thus stability of NRF2. Acts as a scaffold protein and facilitates autophagic degradation of protein aggregates by interacting with p62/SQSTM, ATG16L1 and LC3B/MAP1LC3B. In turn, protects the cell against oxidative stress-induced cell death as a consequence of endomembrane damage.',NULL,NULL,NULL,NULL,NULL),(13631,'UniProt Function',NULL,16301,NULL,'Conversion of sulfated steroid precursors to estrogens during pregnancy.',NULL,NULL,NULL,NULL,NULL),(13632,'UniProt Function',NULL,16302,NULL,'May function as a ubiquitin E3 ligase.',NULL,NULL,NULL,NULL,NULL),(13633,'UniProt Function',NULL,16303,NULL,'SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. The SNARE complex containing STX6, STX12, VAMP4 and VTI1A mediates vesicle fusion (in vitro) (By similarity). Through complex formation with GRIP1, GRIA2 and NSG1 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity).',NULL,NULL,NULL,NULL,NULL),(13634,'UniProt Function',NULL,16304,NULL,'SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network.',NULL,NULL,NULL,NULL,NULL),(13635,'UniProt Function',NULL,16305,NULL,'SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. STX17 is a SNARE of the autophagosome involved in autophagy through the direct control of autophagosome membrane fusion with the lysosome membrane (PubMed:23217709, PubMed:25686604). May also play a role in the early secretory pathway where it may maintain the architecture of the endoplasmic reticulum-Golgi intermediate compartment/ERGIC and Golgi and/or regulate transport between the endoplasmic reticulum, the ERGIC and the Golgi (PubMed:21545355).',NULL,NULL,NULL,NULL,NULL),(13636,'UniProt Function',NULL,16306,NULL,'Syntaxin that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER.',NULL,NULL,NULL,NULL,NULL),(13637,'UniProt Function',NULL,16307,NULL,'Plays a role in endosomal trafficking of the epidermal growth factor receptor (EGFR).',NULL,NULL,NULL,NULL,NULL),(13638,'UniProt Function',NULL,16308,NULL,'SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network.',NULL,NULL,NULL,NULL,NULL),(13639,'UniProt Function',NULL,16309,NULL,'SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network.',NULL,NULL,NULL,NULL,NULL),(13640,'UniProt Function',NULL,16310,NULL,'Mediates endoplasmic reticulum to Golgi transport. Together with p115/USO1 and GM130/GOLGA2, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus.',NULL,NULL,NULL,NULL,NULL),(13641,'UniProt Function',NULL,16311,NULL,'Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity).',NULL,NULL,NULL,NULL,NULL),(13642,'UniProt Function',NULL,16312,NULL,'Has an E3 ubiquitin ligase activity. Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation. May ubiquitinate BBS2. May play a significant role in mediating the biological activity of the HIV-1 Tat protein in vivo. Binds specifically to the activation domain of HIV-1 Tat and can also interact with the HIV-2 and EIAV Tat proteins in vivo.',NULL,NULL,NULL,NULL,NULL),(13643,'UniProt Function',NULL,16313,NULL,'Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to PubMed:16751102, does not promote a decrease in the level of endogenous SMAD4. May act as a transcriptional repressor. Inhibits the transcriptional response to TGF-beta/BMP signaling cascade. Plays a role in the control of cell proliferation. Its association with SMAD2 and SMAD3 stimulates erythroid differentiation of hematopoietic stem/progenitor (By similarity). Monoubiquitinates SMAD4 and acts as an inhibitor of SMAD4-dependent TGF-beta/BMP signaling cascade (Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade).',NULL,NULL,NULL,NULL,NULL),(13644,'UniProt Function',NULL,16314,NULL,'May function as antiviral protein and may contribute to the defense against retroviral infections.',NULL,NULL,NULL,NULL,NULL),(13645,'UniProt Function',NULL,16315,NULL,'E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Involved in chromosome segregation and cell cycle regulation (PubMed:28087737). May play a role in the acrosome reaction and fertilization.',NULL,NULL,NULL,NULL,NULL),(13646,'UniProt Function',NULL,16316,NULL,'Plasma membrane t-SNARE that mediates docking of transport vesicles. Necessary for the translocation of SLC2A4 from intracellular vesicles to the plasma membrane. Together with STXB3 and VAMP2, may also play a role in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes (By similarity). May also play a role in docking of synaptic vesicles at presynaptic active zones.',NULL,NULL,NULL,NULL,NULL),(13647,'UniProt Function',NULL,16317,NULL,'Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells.',NULL,NULL,NULL,NULL,NULL),(13648,'UniProt Function',NULL,16318,NULL,'Together with STX4 and VAMP2, may play a role in insulin-dependent movement of GLUT4 and in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes.',NULL,NULL,NULL,NULL,NULL),(13649,'UniProt Function',NULL,16319,NULL,'Functions as an E3 ligase that catalyzes the ubiquitin-mediated degradation of protein kinase C.',NULL,NULL,NULL,NULL,NULL),(13650,'UniProt Function',NULL,16320,NULL,'Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles to the plasma membrane. Competes with STXBP1 for STX1 binding (By similarity).',NULL,NULL,NULL,NULL,NULL),(13651,'UniProt Function',NULL,16321,NULL,'May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807).',NULL,NULL,NULL,NULL,NULL),(13652,'UniProt Function',NULL,16322,NULL,'May act as a transcriptional repressor in mitogen-activated protein kinase signaling pathway.',NULL,NULL,NULL,NULL,NULL),(13653,'UniProt Function',NULL,16323,NULL,'Probable tyrosine protein-kinase, which has strong transforming capabilities on a variety of cell lines. When overexpressed, it can also induce tumor cell invasion as well as metastasis in distant organs. May act by activating both MAP kinase and phosphatidylinositol 3\'-kinases (PI3K) pathways (By similarity).',NULL,NULL,NULL,NULL,NULL),(13654,'UniProt Function',NULL,16324,NULL,'Catalytically inactive phosphatase (PubMed:23847209). Acts as a nuclear anchor for MAPK1/MAPK3 (ERK1/ERK2) (PubMed:23847209). Modulates cell-fate decisions and cell migration by spatiotemporal regulation of MAPK1/MAPK3 (ERK1/ERK2) (PubMed:23847209). By binding to the F-box of FBXW7, prevents the assembly of FBXW7 into the SCF E3 ubiquitin-protein ligase complex, and thereby inhibits degradation of its substrates (PubMed:28007894). Plays a role in spermatogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(13655,'UniProt Function',NULL,16325,NULL,'E3 ubiquitin ligase whose activity is dependent on E2 ubiquitin-conjugating enzyme UBE2D2.',NULL,NULL,NULL,NULL,NULL),(13656,'UniProt Function',NULL,16326,NULL,'E3 ubiquitin ligase. Mediates the ubiquitination and subsequent proteasomal degradation of CKM, GMEB1 and HIBADH. Regulates the proteasomal degradation of muscle proteins under amino acid starvation, where muscle protein is catabolized to provide other organs with amino acids. Inhibits de novo skeletal muscle protein synthesis under amino acid starvation. Regulates proteasomal degradation of cardiac troponin I/TNNI3 and probably of other sarcomeric-associated proteins. May play a role in striated muscle atrophy and hypertrophy by regulating an anti-hypertrophic PKC-mediated signaling pathway. May regulate the organization of myofibrils through TTN in muscle cells.',NULL,NULL,NULL,NULL,NULL),(13657,'UniProt Function',NULL,16328,NULL,'May have E3 ubiquitin-protein ligase activity. May play a role in apoptosis.',NULL,NULL,NULL,NULL,NULL),(13658,'UniProt Function',NULL,16329,NULL,'Muscle-specific protein that plays a central role in cell membrane repair by nucleating the assembly of the repair machinery at injury sites. Specifically binds phosphatidylserine. Acts as a sensor of oxidation: upon membrane damage, entry of extracellular oxidative environment results in disulfide bond formation and homooligomerization at the injury site. This oligomerization acts as a nucleation site for recruitment of TRIM72-containing vesicles to the injury site, leading to membrane patch formation. Probably acts upstream of the Ca(2+)-dependent membrane resealing process. Required for transport of DYSF to sites of cell injury during repair patch formation. Regulates membrane budding and exocytosis. May be involved in the regulation of the mobility of KCNB1-containing endocytic vesicles (By similarity).',NULL,NULL,NULL,NULL,NULL),(13659,'UniProt Function',NULL,16334,NULL,'Adapter protein involved in protein degradation by interacting with COP1 ubiquitin ligase (PubMed:27041596). The COP1-binding motif is masked by autoinhibitory interactions with the protein kinase domain (PubMed:26455797). Serves to alter COP1 substrate specificity by directing the activity of COP1 toward CEBPA (PubMed:27041596). Binds selectively the recognition sequence of CEBPA (PubMed:26455797). Regulates myeloid cell differentiation by altering the expression of CEBPA in a COP1-dependent manner (By similarity). Controls macrophage, eosinophil and neutrophil differentiation via the COP1-binding domain (By similarity). Interacts with MAPK kinases and regulates activation of MAP kinases, but has no kinase activity (PubMed:15299019, PubMed:26455797).',NULL,NULL,NULL,NULL,NULL),(13660,'UniProt Function',NULL,16335,NULL,'ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA (PubMed:15877282). The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit (By similarity).',NULL,NULL,NULL,NULL,NULL),(13661,'UniProt Function',NULL,16336,NULL,'Component of the TLR4 signaling complex. Mediate the innate immune response to bacterial lipopolysaccharide (LPS) leading to cytokine secretion.',NULL,NULL,NULL,NULL,NULL),(13662,'UniProt Function',NULL,16337,NULL,'UBE2D1-dependent E3 ubiquitin-protein ligase that mediates the ubiquitination of NEFL and of phosphorylated BCL2L11. Plays a neuroprotective function. May play a role in neuronal rapid ischemic tolerance.',NULL,NULL,NULL,NULL,NULL),(13663,'UniProt Function',NULL,16338,NULL,'E3 ubiquitin-protein ligase which ubiquitinates MYC and inhibits its transcription activation activity, maintaining the pluripotency of embryonic stem cells (By similarity). Involved in the synthesis of unanchored K48-linked polyubiquitin chains which interact with and activate the serine/threonine kinase IKBKE, leading to phosphorylation of STAT1 and stimulation of an antiviral response (PubMed:24882218).',NULL,NULL,NULL,NULL,NULL),(13664,'UniProt Function',NULL,16339,NULL,'E3 ubiquitin-protein ligase. Mediates \'Lys-63\'-linked polyubiquitination and stabilization of the JUN coactivator RNF187 in response to growth factor signaling via the MEK/ERK pathway, thereby regulating JUN transactivation and cellular proliferation.',NULL,NULL,NULL,NULL,NULL),(13665,'UniProt Function',NULL,16340,NULL,'E3 ubiquitin-protein ligase which plays different roles in immune pathways. Participates in the activation of interferon-gamma signaling by promoting proteasomal degradation of the repressor SOCS1 (PubMed:12163497). Plays a positive role in the TNFalpha and IL-1beta signaling pathways. Mechanistically, induces the \'lys-63\' polyubiquitination of MAP3K7/TAK1 component leading to the activation of NF-kappa-B (PubMed:22084099, PubMed:23152791). Modulates also STAT3 activity through negative regulation of PIAS3, either by degradation of PIAS3 through the ubiquitin-proteasome pathway or exclusion of PIAS3 from the nucleus (PubMed:20516148).',NULL,NULL,NULL,NULL,NULL),(13666,'UniProt Function',NULL,16341,NULL,'E3 ubiquitin-protein ligase which ubiquitinates itself in cooperation with an E2 enzyme UBE2D2/UBC4 and serves as a targeting signal for proteasomal degradation. May play a role in regulation of neuronal functions and may also participate in the formation or breakdown of abnormal inclusions in neurodegenerative disorders. May act as a regulator of synaptic vesicle exocytosis by controlling the availability of SNAP25 for the SNARE complex formation.',NULL,NULL,NULL,NULL,NULL),(13667,'UniProt Function',NULL,16342,NULL,'May play a role in motor coordination and exploratory behavior.',NULL,NULL,NULL,NULL,NULL),(13668,'UniProt Function',NULL,16343,NULL,'Probable S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine at position 54 (m5U54) in all tRNA. May also have a role in tRNA stabilization or maturation (By similarity).',NULL,NULL,NULL,NULL,NULL),(13669,'UniProt Function',NULL,16344,NULL,'Catalyzes the succinyl-CoA-dependent conversion of glutarate to glutaryl-CoA. Can use different dicarboxylic acids as CoA acceptors, the preferred ones are glutarate, succinate, adipate, and 3-hydroxymethylglutarate.',NULL,NULL,NULL,NULL,NULL),(13670,'UniProt Function',NULL,16345,NULL,'Required for bone modeling during late embryogenesis. Regulates type I collagen synthesis in osteoblasts during their postnatal maturation (By similarity).',NULL,NULL,NULL,NULL,NULL),(13671,'UniProt Function',NULL,16346,NULL,'Plays an important role in the final stage of carbohydrate digestion. Isomaltase activity is specific for both alpha-1,4- and alpha-1,6-oligosaccharides.',NULL,NULL,NULL,NULL,NULL),(13672,'UniProt Function',NULL,16347,NULL,'Ubiquitin-like protein which can be covalently attached to target lysines either as a monomer or as a lysine-linked polymer. Does not seem to be involved in protein degradation and may function as an antagonist of ubiquitin in the degradation process. Plays a role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Covalent attachment to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by an E3 ligase such as PIAS1-4, RANBP2 or CBX4 (PubMed:11451954, PubMed:18538659, PubMed:21965678). Plays a role in the regulation of sumoylation status of SETX (PubMed:24105744).',NULL,NULL,NULL,NULL,NULL),(13673,'UniProt Function',NULL,16348,NULL,'Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1.',NULL,NULL,NULL,NULL,NULL),(13674,'UniProt Function',NULL,16350,NULL,'Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.',NULL,NULL,NULL,NULL,NULL),(13675,'UniProt Function',NULL,16351,NULL,'May play a role in vesicular transport from endoplasmic reticulum to Golgi.',NULL,NULL,NULL,NULL,NULL),(13676,'UniProt Function',NULL,16354,NULL,'Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the fatty acid and to a lesser degree the cholesterol synthesis pathway (By similarity). Binds to the sterol regulatory element 1 (SRE-1) (5\'-ATCACCCCAC-3\'). Has dual sequence specificity binding to both an E-box motif (5\'-ATCACGTGA-3\') and to SRE-1 (5\'-ATCACCCCAC-3\').',NULL,NULL,NULL,NULL,NULL),(13677,'UniProt Function',NULL,16355,NULL,'Binds tubulin and has microtubule bundling activity. May play a role in cell proliferation and mitosis.',NULL,NULL,NULL,NULL,NULL),(13678,'UniProt Function',NULL,16356,NULL,'May play a role in the polymerization of tubulin into microtubules, microtubule bundling and the stabilization of existing microtubules, thus maintaining the integrity of the microtubule network. May play a role in mitotic spindle assembly and nuclear envelope breakdown.',NULL,NULL,NULL,NULL,NULL),(13679,'UniProt Function',NULL,16357,NULL,'May be involved in transcription regulation of the alpha 2(I) collagen gene where it binds to the single-stranded polypyrimidine sequences in the promoter region.',NULL,NULL,NULL,NULL,NULL),(13680,'UniProt Function',NULL,16359,NULL,'Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4, RANBP2 or CBX4. This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Involved for instance in targeting RANGAP1 to the nuclear pore complex protein RANBP2. Covalently attached to the voltage-gated potassium channel KCNB1; this modulates the gating characteristics of KCNB1 (PubMed:19223394). Polymeric SUMO1 chains are also susceptible to polyubiquitination which functions as a signal for proteasomal degradation of modified proteins. May also regulate a network of genes involved in palate development. Covalently attached to ZFHX3 (PubMed:24651376).',NULL,NULL,NULL,NULL,NULL),(13681,'UniProt Function',NULL,16360,NULL,'This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. May induce fusion through binding of SLC1A4 and SLC1A5 (PubMed:10708449, PubMed:12050356, PubMed:23492904).',NULL,NULL,NULL,NULL,NULL),(13682,'UniProt Function',NULL,16360,NULL,'Endogenous envelope proteins may have kept, lost or modified their original function during evolution. Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. The surface protein (SU) mediates receptor recognition, while the transmembrane protein (TM) acts as a class I viral fusion protein. The protein may have at least 3 conformational states: pre-fusion native state, pre-hairpin intermediate state, and post-fusion hairpin state. During viral and target cell membrane fusion, the coiled coil regions (heptad repeats) assume a trimer-of-hairpins structure, positioning the fusion peptide in close proximity to the C-terminal region of the ectodomain. The formation of this structure appears to drive apposition and subsequent fusion of membranes.',NULL,NULL,NULL,NULL,NULL),(13683,'UniProt Function',NULL,16361,NULL,'May recognize and hydrolyze the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(13684,'UniProt Function',NULL,16362,NULL,'Deubiquitinating enzyme involved in various processes such as centrosome duplication, cellular migration and beta-2 adrenergic receptor/ADRB2 recycling. Involved in regulation of centrosome duplication by mediating deubiquitination of CCP110 in S and G2/M phase, leading to stabilize CCP110 during the period which centrioles duplicate and elongate. Involved in cell migration via its interaction with intracellular domain of ROBO1, leading to regulate the Slit signaling. Plays a role in commissural axon guidance cross the ventral midline of the neural tube in a Slit-dependent manner, possibly by mediating the deubiquitination of ROBO1. Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination of beta-arrestins (ARRB1 and ARRB2) and beta-2 adrenergic receptor (ADRB2). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, leading to beta-arrestins deubiquitination and disengagement from ADRB2. This suggests the existence of a dynamic exchange between the ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Mediates deubiquitination of both \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(13685,'UniProt Function',NULL,16363,NULL,'Ubiquitin hydrolase that can remove conjugated ubiquitin from AXIN1 and AXIN2, thereby acting as a regulator of Wnt signaling pathway. Acts as an activator of the Wnt signaling pathway downstream of the beta-catenin destruction complex by deubiquitinating and stabilizing AXIN1 and AXIN2, leading to promote nuclear accumulation of AXIN1 and AXIN2 and positively regulate beta-catenin (CTNBB1)-mediated transcription. Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins.',NULL,NULL,NULL,NULL,NULL),(13686,'UniProt Function',NULL,16364,NULL,'Deubiquitinating enzyme exhibiting a preference towards \'Lys-63\'-linked ubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(13687,'UniProt Function',NULL,16365,NULL,'May be catalytically inactive.',NULL,NULL,NULL,NULL,NULL),(13688,'UniProt Function',NULL,16366,NULL,'May recognize and hydrolyze the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(13689,'UniProt Function',NULL,16367,NULL,'Deubiquitinating enzyme which may play an important role during spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(13690,'UniProt Function',NULL,16368,NULL,'May recognize and hydrolyze the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(13691,'UniProt Function',NULL,16369,NULL,'Deubiquitinase that plays a key regulatory role in the spindle assembly checkpoint or mitotic checkpoint by preventing premature anaphase onset. Acts by specifically mediating deubiquitination of CDC20, a negative regulator of the anaphase promoting complex/cyclosome (APC/C). Deubiquitination of CDC20 leads to stabilize the MAD2L1-CDC20-APC/C ternary complex (also named mitotic checkpoint complex), thereby preventing premature activation of the APC/C. Promotes association of MAD2L1 with CDC20 and reinforces the spindle assembly checkpoint. Acts as a negative regulator of histone H2B (H2BK120ub1) ubiquitination.',NULL,NULL,NULL,NULL,NULL),(13692,'UniProt Function',NULL,16371,NULL,'Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by mediating the deubiquitination of GAD1/GAD67 (By similarity). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity (PubMed:19075014, PubMed:26388029). Not involved in deubiquitination of monoubiquitinated FANCD2 (PubMed:19075014).',NULL,NULL,NULL,NULL,NULL),(13693,'UniProt Function',NULL,16372,NULL,'Ubiquitin-specific protease that specifically deubiquitinates monoubiquitinated DNA polymerase beta (POLB), stabilizing POLB thereby playing a role in base-excision repair (BER). Acts as a regulator of cell growth and genome integrity. May also indirectly regulate CDC25A expression at a transcriptional level.',NULL,NULL,NULL,NULL,NULL),(13694,'UniProt Function',NULL,16373,NULL,'Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. May be involved in the regulation of NF-kappa-B activation by TNF receptor superfamily via its interactions with RELA and TRAF2. May also play a regulatory role at postsynaptic sites.',NULL,NULL,NULL,NULL,NULL),(13695,'UniProt Function',NULL,16374,NULL,'Specifically deubiquitinates histone H2B at \'Lys-120\' (H2BK120Ub). H2BK120Ub is a specific tag for epigenetic transcriptional activation and acts as a regulator of mRNA splicing. Deubiquitination is required for efficient cotranscriptional splicing of a large set of exons.',NULL,NULL,NULL,NULL,NULL),(13696,'UniProt Function',NULL,16375,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from target proteins (PubMed:16316627, PubMed:16472766, PubMed:16339847, PubMed:20595234, PubMed:22347420, PubMed:25404403). Deubiquitinates PDPK1 (PubMed:22347420). Deubiquitinates TRIM21 (PubMed:16316627). Deubiquitinates receptor ADORA2A which increases the amount of functional receptor at the cell surface (PubMed:16339847). May regulate mRNA splicing through deubiquitination of the U4 spliceosomal protein PRPF3 (PubMed:20595234). This may prevent its recognition by the U5 component PRPF8 thereby destabilizing interactions within the U4/U6.U5 snRNP (PubMed:20595234). May also play a role in the regulation of quality control in the ER (PubMed:16339847).',NULL,NULL,NULL,NULL,NULL),(13697,'UniProt Function',NULL,16376,NULL,'Has no peptidase activity.',NULL,NULL,NULL,NULL,NULL),(13698,'UniProt Function',NULL,16377,NULL,'Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:15147878). Plays a role in the ERAD pathway via its interaction with ER-localized proteins UBXN4, VCP and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:19822669, PubMed:18307982). Isoform 1, isoform 2 and isoform 3 play a role in unfolded protein response (UPR) by attenuating the induction of UPR-inducible genes, DDTI3/CHOP, HSPA5 and PDIA2 during ER stress (PubMed:18953672). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957, PubMed:23459205). Negatively regulates the TICAM1/TRIF-dependent toll-like receptor signaling pathway by decreasing the abundance of TICAM1 via the autophagic pathway (PubMed:21695056). Isoform 1 and isoform 3 play a key role in the regulation of the levels of PSEN1 by targeting its accumulation to aggresomes which may then be removed from cells by autophagocytosis (PubMed:21143716). Promotes the ubiquitination and lysosomal degradation of ORAI1, consequently downregulating the ORAI1-mediated Ca2+ mobilization (PubMed:23307288). Suppresses the maturation and proteasomal degradation of amyloid beta A4 protein (A4) by stimulating the lysine 63 (K63)-linked polyubiquitination. Delays the maturation of A4 by sequestering it in the Golgi apparatus and preventing its transport to the cell surface for subsequent processing (By similarity).',NULL,NULL,NULL,NULL,NULL),(13699,'UniProt Function',NULL,16378,NULL,'Involved in the biosynthesis of glycosaminoglycans; hyaluronan, chondroitin sulfate, and heparan sulfate.',NULL,NULL,NULL,NULL,NULL),(13700,'UniProt Function',NULL,16379,NULL,'Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation.',NULL,NULL,NULL,NULL,NULL),(13701,'UniProt Function',NULL,16380,NULL,'Plays a central role as a glucosyl donor in cellular metabolic pathways.',NULL,NULL,NULL,NULL,NULL),(13702,'UniProt Function',NULL,16381,NULL,'Isoform 1, isoform 2 and T1-TrpRS have aminoacylation activity while T2-TrpRS lacks it. Isoform 2, T1-TrpRS and T2-TrpRS possess angiostatic activity whereas isoform 1 lacks it. T2-TrpRS inhibits fluid shear stress-activated responses of endothelial cells. Regulates ERK, Akt, and eNOS activation pathways that are associated with angiogenesis, cytoskeletal reorganization and shear stress-responsive gene expression.',NULL,NULL,NULL,NULL,NULL),(13703,'UniProt Function',NULL,16382,NULL,'Mitochondrial aminoacyl-tRNA synthetase that activate and transfer the amino acids to their corresponding tRNAs during the translation of mitochondrial genes and protein synthesis.',NULL,NULL,NULL,NULL,NULL),(13704,'UniProt Function',NULL,16383,NULL,'Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Necessary for cell cycle progression through the S-M checkpoint. Overexpression of NAE1 causes apoptosis through deregulation of NEDD8 conjugation.',NULL,NULL,NULL,NULL,NULL),(13705,'UniProt Function',NULL,16384,NULL,'As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose (PubMed:28199306, PubMed:28199315). May play a role in the cellular response to oxidative stress (By similarity).',NULL,NULL,NULL,NULL,NULL),(13706,'UniProt Function',NULL,16385,NULL,'Necessary for efficient adipogenesis.',NULL,NULL,NULL,NULL,NULL),(13707,'UniProt Function',NULL,16387,NULL,'Regulates localization of phosphatidylinositol 4-kinase (PI4K) to the plasma membrane, possibly by reducing the association of TTC7 (TTC7A or TTC7B) with the PI4K complex (PubMed:25608530). Acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:25608530). May also play a role in fasting-induced catabolism (By similarity).',NULL,NULL,NULL,NULL,NULL),(13708,'UniProt Function',NULL,16388,NULL,'May play a role in protection against oxidative stress. Overexpression leads to reduced levels of oxidant-induced DNA damage and apoptosis.',NULL,NULL,NULL,NULL,NULL),(13709,'UniProt Function',NULL,16390,NULL,'Acts as a regulator of endoplasmic reticulum (ER) and nuclear envelope (NE) morphogenesis. Affects the ratio between tubular ER and ER sheets by promoting sheet formation at the expense of tubules. Influences NE expansion, nuclear pore complex formation and proper localization of inner nuclear membrane proteins (PubMed:26906412).',NULL,NULL,NULL,NULL,NULL),(13710,'UniProt Function',NULL,16391,NULL,'Negatively regulates the canonical Wnt signaling in breast cancer cells. Exerts an inhibitory effect on breast cancer growth by inhibiting CTNNB1 stabilization and nucleus translocation, which reduces the activity of Wnt targets (PubMed:29367600).',NULL,NULL,NULL,NULL,NULL),(13711,'UniProt Function',NULL,16393,NULL,'Acts as a negative regulator of osteoclast differentiation in basal and inflammatory conditions by regulating TNFSF11-induced Ca (2+) fluxes, thereby controlling the induction of NFATC1.',NULL,NULL,NULL,NULL,NULL),(13712,'UniProt Function',NULL,16398,NULL,'Acts as a heparin receptor in vascular cells (By similarity). May be involved in vesicle transport in exocrine cells and Sertoli cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(13713,'UniProt Function',NULL,16404,NULL,'Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.',NULL,NULL,NULL,NULL,NULL),(13714,'UniProt Function',NULL,16405,NULL,'Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.',NULL,NULL,NULL,NULL,NULL),(13715,'UniProt Function',NULL,16409,NULL,'Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter.',NULL,NULL,NULL,NULL,NULL),(13716,'UniProt Function',NULL,16412,NULL,'Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-depending refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity).',NULL,NULL,NULL,NULL,NULL),(13717,'UniProt Function',NULL,16413,NULL,'May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell synapses (By similarity).',NULL,NULL,NULL,NULL,NULL),(13718,'UniProt Function',NULL,16414,NULL,'Acts as co-chaperone for HSP90. Prevents the stimulation of HSP90AB1 ATPase activity by AHSA1. Positive factor in promoting PGR function in the cell. May be necessary for proper folding of myosin (Potential). Necessary for normal cell proliferation. Necessary for normal myotube formation and myosin accumulation during muscle cell development. May play a role in erythropoiesis in stroma cells in the spleen (By similarity).',NULL,NULL,NULL,NULL,NULL),(13719,'UniProt Function',NULL,16415,NULL,'Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development.',NULL,NULL,NULL,NULL,NULL),(13720,'UniProt Function',NULL,16416,NULL,'Inhibits NF-kappa-B-dependent transcription by impairing NF-kappa-B binding to its targets.',NULL,NULL,NULL,NULL,NULL),(13721,'UniProt Function',NULL,16418,NULL,'May be involved in cell surface expression of neuronal nicotinic receptors. Binds RNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(13722,'UniProt Function',NULL,16420,NULL,'Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.',NULL,NULL,NULL,NULL,NULL),(13723,'UniProt Function',NULL,16421,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13724,'UniProt Function',NULL,16422,NULL,'Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5.',NULL,NULL,NULL,NULL,NULL),(13725,'UniProt Function',NULL,16423,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13726,'UniProt Function',NULL,16424,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13727,'UniProt Function',NULL,16425,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). Activated by the sulfonyl amide sweeteners saccharin and acesulfame K.',NULL,NULL,NULL,NULL,NULL),(13728,'UniProt Function',NULL,16426,NULL,'Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine.',NULL,NULL,NULL,NULL,NULL),(13729,'UniProt Function',NULL,16427,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13730,'UniProt Function',NULL,16428,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13731,'UniProt Function',NULL,16430,NULL,'May play a significant role in p53/TP53-mediating signaling pathway.',NULL,NULL,NULL,NULL,NULL),(13732,'UniProt Function',NULL,16431,NULL,'Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5.',NULL,NULL,NULL,NULL,NULL),(13733,'UniProt Function',NULL,16432,NULL,'Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5.',NULL,NULL,NULL,NULL,NULL),(13734,'UniProt Function',NULL,16433,NULL,'Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13735,'UniProt Function',NULL,16434,NULL,'Receptor for thromboxane A2 (TXA2), a potent stimulator of platelet aggregation. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system. In the kidney, the binding of TXA2 to glomerular TP receptors causes intense vasoconstriction. Activates phospholipase C. Isoform 1 activates adenylyl cyclase. Isoform 2 inhibits adenylyl cyclase.',NULL,NULL,NULL,NULL,NULL),(13736,'UniProt Function',NULL,16435,NULL,'May be associated with TAP2 isoform activity.',NULL,NULL,NULL,NULL,NULL),(13737,'UniProt Function',NULL,16436,NULL,'Likely involved in the processes that promote cell division prior to the formation of differentiated tissues.',NULL,NULL,NULL,NULL,NULL),(13738,'UniProt Function',NULL,16438,NULL,'May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May function at a time after T and NK cells have penetrated the endothelium using integrins and selectins, when they are actively engaging diseased cells and moving within areas of inflammation.',NULL,NULL,NULL,NULL,NULL),(13739,'UniProt Function',NULL,16439,NULL,'Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity).',NULL,NULL,NULL,NULL,NULL),(13740,'UniProt Function',NULL,16440,NULL,'Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity).',NULL,NULL,NULL,NULL,NULL),(13741,'UniProt Function',NULL,16443,NULL,'DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3\'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3\' UTR.',NULL,NULL,NULL,NULL,NULL),(13742,'UniProt Function',NULL,16444,NULL,'Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate (PubMed:7488099). The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis.',NULL,NULL,NULL,NULL,NULL),(13743,'UniProt Function',NULL,16445,NULL,'TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TIIFD is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors.',NULL,NULL,NULL,NULL,NULL),(13744,'UniProt Function',NULL,16446,NULL,'Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. Shows substrate specificity and accept uridine, deoxyuridine, and thymidine as well as the two pyrimidine nucleoside analogs 5-fluorouridine and 5-fluoro-2(\')-deoxyuridine as substrates.',NULL,NULL,NULL,NULL,NULL),(13745,'UniProt Function',NULL,16447,NULL,'Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits. Recruits RNA polymerase I to the rRNA gene promoter via interaction with RRN3.',NULL,NULL,NULL,NULL,NULL),(13746,'UniProt Function',NULL,16448,NULL,'Part of the TFIID complex, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Potentiates transcriptional activation by the AF-2S of the retinoic acid, vitamin D3 and thyroid hormone.',NULL,NULL,NULL,NULL,NULL),(13747,'UniProt Function',NULL,16449,NULL,'Functions in exocytosis in pancreatic acinar cells regulating the fusion of zymogen granules with each other. May have a pore-forming activity on membranes and regulate exocytosis in other exocrine tissues (By similarity).',NULL,NULL,NULL,NULL,NULL),(13748,'UniProt Function',NULL,16450,NULL,'Part of a kinesin motor-adapter complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development.',NULL,NULL,NULL,NULL,NULL),(13749,'UniProt Function',NULL,16452,NULL,'As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Probable anchoring protein which tethers the nucleus to the cytoskeleton by binding PLEC which can associate with the intermediate filament system. Plays a role in the regulation of aortic epithelial cell morphology, and is required for flow-induced centrosome polarization and directional migration in aortic endothelial cells.',NULL,NULL,NULL,NULL,NULL),(13750,'UniProt Function',NULL,16453,NULL,'Deubiquitinating enzyme that regulates the degradation of various proteins. Deubiquitinates and prevents proteasomal degradation of RNF123 which in turn stimulates CDKN1B ubiquitin-dependent degradation thereby playing a role in cell proliferation. Involved in decreased protein synthesis in atrophying skeletal muscle. Modulates transcription of major myofibrillar proteins. Also involved in turnover of endoplasmic-reticulum-associated degradation (ERAD) substrates. Regulates the stability of BIRC2/c-IAP1 and BIRC3/c-IAP2 by preventing their ubiquitination. Required for cells to mount an appropriate response to hypoxia and rescues HIF1A from degradation in a non-catalytic manner. Plays an important role in 17 beta-estradiol (E2)-inhibited myogenesis. Decreases the levels of ubiquitinated proteins during skeletal muscle formation and acts to repress myogenesis. Exhibits a preference towards \'Lys-63\'-linked ubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(13751,'UniProt Function',NULL,16454,NULL,'Specifically deubiquitinates \'Lys-14\' (H2AK13Ub) and \'Lys-16\'(H2AK15Ub) of histone H2A regulating the DNA damage response at double-strand breaks (DSBs) (PubMed:27083998). USP51 is recruited to chromatin after DNA damage and regulates the dynamic assembly/disassembly of TP53BP1 and BRCA1. Exhibits also activity for \'Lys-27\' or \'Lys-63\'-linked di-ubiquitin (PubMed:27083998).',NULL,NULL,NULL,NULL,NULL),(13752,'UniProt Function',NULL,16455,NULL,'Tight junction-associated protein that is involved in the survival of auditory hair cells and hearing. Maybe by modulating the barrier properties and mechanical stability of tight junctions (By similarity). Has no peptidase activity (PubMed:14715245).',NULL,NULL,NULL,NULL,NULL),(13753,'UniProt Function',NULL,16457,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.',NULL,NULL,NULL,NULL,NULL),(13754,'UniProt Function',NULL,16458,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 3 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13755,'UniProt Function',NULL,16459,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.',NULL,NULL,NULL,NULL,NULL),(13756,'UniProt Function',NULL,16460,NULL,'UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity).',NULL,NULL,NULL,NULL,NULL),(13757,'UniProt Function',NULL,16462,NULL,'Possible negative regulator of polyubiquitination.',NULL,NULL,NULL,NULL,NULL),(13758,'UniProt Function',NULL,16463,NULL,'Non-amyloid component of senile plaques found in Alzheimer disease. Could act as a regulator of SNCA aggregation process. Protects neurons from staurosporine and 6-hydroxy dopamine (6OHDA)-stimulated caspase activation in a p53/TP53-dependent manner. Contributes to restore the SNCA anti-apoptotic function abolished by 6OHDA. Not found in the Lewy bodies associated with Parkinson disease.',NULL,NULL,NULL,NULL,NULL),(13759,'UniProt Function',NULL,16464,NULL,'Plays a role in neurofilament network integrity. May be involved in modulating axonal architecture during development and in the adult. In vitro, increases the susceptibility of neurofilament-H to calcium-dependent proteases (By similarity). May also function in modulating the keratin network in skin. Activates the MAPK and Elk-1 signal transduction pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(13760,'UniProt Function',NULL,16465,NULL,'Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and NPLOC4, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination and degradation of DDX58/RIG-I (PubMed:26471729).',NULL,NULL,NULL,NULL,NULL),(13761,'UniProt Function',NULL,16466,NULL,'E3 protein ligase that mediates ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to substrate proteins, a post-translational modification on lysine residues of proteins that may play a crucial role in a number of cellular processes. Mediates DDRGK1 ufmylation and may regulate the proteasomal degradation of DDRGK1 and CDK5RAP3 thereby modulating NF-kappa-B signaling (PubMed:20018847, PubMed:20164180, PubMed:20228063, PubMed:25219498). May also through TRIP4 ufmylation play a role in nuclear receptors-mediated transcription (PubMed:25219498). May play a role in the unfolded protein response, mediating the ufmylation of multiple proteins in response to endoplasmic reticulum stress (PubMed:23152784).',NULL,NULL,NULL,NULL,NULL),(13762,'UniProt Function',NULL,16467,NULL,'Ubiquitin-like modifier which can be covalently attached via an isopeptide bond to substrate proteins as a monomer or a lysine-linked polymer (PubMed:15071506, PubMed:20018847). The so-called ufmylation, requires the UFM1-activating E1 enzyme UBA5, the UFM1-conjugating E2 enzyme UFC1, and the UFM1-ligase E3 enzyme UFL1 (PubMed:15071506, PubMed:20018847). This post-translational modification on lysine residues of proteins may play a crucial role in a number of cellular processes (PubMed:15071506, PubMed:20018847). TRIP4 ufmylation may for instance play a role in nuclear receptors-mediated transcription (PubMed:25219498). Other substrates may include DDRGK1 with which it may play a role in the cellular response to endoplasmic reticulum stress (Probable).',NULL,NULL,NULL,NULL,NULL),(13763,'UniProt Function',NULL,16468,NULL,'Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding growth factor GAS6 and which is thus regulating many physiological processes including cell survival, cell proliferation, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of AXL. Following activation by ligand, ALX binds and induces tyrosine phosphorylation of PI3-kinase subunits PIK3R1, PIK3R2 and PIK3R3; but also GRB2, PLCG1, LCK and PTPN11. Other downstream substrate candidates for AXL are CBL, NCK2, SOCS1 and TNS2. Recruitment of GRB2 and phosphatidylinositol 3 kinase regulatory subunits by AXL leads to the downstream activation of the AKT kinase. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses. Plays also an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response.',NULL,NULL,NULL,NULL,NULL),(13764,'UniProt Function',NULL,16468,NULL,'(Microbial infection) Acts as a receptor for lassa virus and lymphocytic choriomeningitis virus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope.',NULL,NULL,NULL,NULL,NULL),(13765,'UniProt Function',NULL,16468,NULL,'(Microbial infection) Acts as a receptor for Ebolavirus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope.',NULL,NULL,NULL,NULL,NULL),(13766,'UniProt Function',NULL,16469,NULL,'Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(13767,'UniProt Function',NULL,16471,NULL,'Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.',NULL,NULL,NULL,NULL,NULL),(13768,'UniProt Function',NULL,16473,NULL,'May play a role in embryonic and postnatal development of the brain. Increased resistance to cell death induced by serum starvation in cultured cells. Regulates cAMP-induced GFAP gene expression via STAT3 phosphorylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(13769,'UniProt Function',NULL,16479,NULL,'Required for normal inner ear hair cell function and hearing.',NULL,NULL,NULL,NULL,NULL),(13770,'UniProt Function',NULL,16480,NULL,'Necessary for efficient adipogenesis (PubMed:26024229).',NULL,NULL,NULL,NULL,NULL),(13771,'UniProt Function',NULL,16481,NULL,'Component of a mechanosensitive cation channel. Confers mechanically activated (MA) currents with slow inactivation kinetics. May contribute to proprioception.',NULL,NULL,NULL,NULL,NULL),(13772,'UniProt Function',NULL,16482,NULL,'May play a role in the process of maturation of dendritic cells. Required for the development of cerebellar granule cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(13773,'UniProt Function',NULL,16484,NULL,'May activate the MAP kinase signaling pathway.',NULL,NULL,NULL,NULL,NULL),(13774,'UniProt Function',NULL,16485,NULL,'Possible tumor suppressor which may play a role in cell growth.',NULL,NULL,NULL,NULL,NULL),(13775,'UniProt Function',NULL,16486,NULL,'Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.',NULL,NULL,NULL,NULL,NULL),(13776,'UniProt Function',NULL,16487,NULL,'Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.',NULL,NULL,NULL,NULL,NULL),(13777,'UniProt Function',NULL,16488,NULL,'Isoform 1: Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.',NULL,NULL,NULL,NULL,NULL),(13778,'UniProt Function',NULL,16488,NULL,'Isoform 3: Down-regulates the expression of KLRK1 and stimulates natural killer cells to secrete IFNG.',NULL,NULL,NULL,NULL,NULL),(13779,'UniProt Function',NULL,16488,NULL,'Isoform 2: Stimulates natural killer cells to secrete IFNG.',NULL,NULL,NULL,NULL,NULL),(13780,'UniProt Function',NULL,16489,NULL,'Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK and also acts as a regulator of AMPK by mediating phosphorylation of AMPK subunits PRKAA1, PRKAB2 and PRKAG1, leading to negatively regulate AMPK activity. May phosphorylate ATG13/KIAA0652 and RPTOR; however such data need additional evidences. Plays a role early in neuronal differentiation and is required for granule cell axon formation. May also phosphorylate SESN2 and SQSTM1 to regulate autophagy (PubMed:25040165).',NULL,NULL,NULL,NULL,NULL),(13781,'UniProt Function',NULL,16490,NULL,'Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and a negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK, also acts as a negative regulator of AMPK through phosphorylation of the AMPK subunits PRKAA1, PRKAB2 and PRKAG1. May phosphorylate ATG13/KIAA0652, FRS2, FRS3 and RPTOR; however such data need additional evidences. Not involved in ammonia-induced autophagy or in autophagic response of cerebellar granule neurons (CGN) to low potassium concentration. Plays a role early in neuronal differentiation and is required for granule cell axon formation: may govern axon formation via Ras-like GTPase signaling and through regulation of the Rab5-mediated endocytic pathways within developing axons.',NULL,NULL,NULL,NULL,NULL),(13782,'UniProt Function',NULL,16491,NULL,'Serine/threonine protein kinase that acts as a regulator of Sonic hedgehog (SHH) signaling and autophagy. Acts as a negative regulator of SHH signaling in the absence of SHH ligand: interacts with SUFU, thereby inactivating the protein kinase activity and preventing phosphorylation of GLI proteins (GLI1, GLI2 and/or GLI3). Positively regulates SHH signaling in the presence of SHH: dissociates from SUFU, autophosphorylates and mediates phosphorylation of GLI2, activating it and promoting its nuclear translocation. Phosphorylates in vitro GLI2, as well as GLI1 and GLI3, although less efficiently. Also acts as a regulator of autophagy: following cellular senescence, able to induce autophagy.',NULL,NULL,NULL,NULL,NULL),(13783,'UniProt Function',NULL,16492,NULL,'May be involved in the remodeling of cytoskeletal components, such as alpha-tubulin, and in this way regulates neurite branching and elongation, as well as cell motility.',NULL,NULL,NULL,NULL,NULL),(13784,'UniProt Function',NULL,16498,NULL,'Protects T-cells from IL2 deprivation-induced apoptosis through the inhibition of FOXO3A transcriptional activity that leads to the down-regulation of the pro-apoptotic factor BCL2L11. In macrophages, plays a role in the anti-inflammatory and immunosuppressive effects of glucocorticoids and IL10. In T-cells, inhibits anti-CD3-induced NFKB1 nuclear translocation. In vitro, suppresses AP1 and NFKB1 DNA-binding activities (By similarity). Isoform 1 inhibits myogenic differentiation and mediates anti-myogenic effects of glucocorticoids by binding and regulating MYOD1 and HDAC1 transcriptional activity resulting in reduced expression of MYOG (By similarity).',NULL,NULL,NULL,NULL,NULL),(13785,'UniProt Function',NULL,16499,NULL,'Transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(13786,'UniProt Function',NULL,16500,NULL,'Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). Also involved in secretory granule priming in insulin secretion (By similarity). Interacts with FBXO45 (via SRY domain); leading to the degradation of UNC13A by the proteasome (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).',NULL,NULL,NULL,NULL,NULL),(13787,'UniProt Function',NULL,16501,NULL,'Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells.',NULL,NULL,NULL,NULL,NULL),(13788,'UniProt Function',NULL,16502,NULL,'Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TLR9) from the endoplasmic reticulum to endolysosomes where they can engage pathogen nucleotides and activate signaling cascades. May play a role in autoreactive B-cells removal.',NULL,NULL,NULL,NULL,NULL),(13789,'UniProt Function',NULL,16503,NULL,'Heme-dependent dioxygenase that catalyzes the oxidative cleavage of the L-tryptophan (L-Trp) pyrrole ring and converts L-tryptophan to N-formyl-L-kynurenine. Catalyzes the oxidative cleavage of the indole moiety.',NULL,NULL,NULL,NULL,NULL),(13790,'UniProt Function',NULL,16504,NULL,'Transcription factor involved in somitogenesis and neurogenesis. Required for the maintenance and differentiation of particular elements of the axial skeleton. May act upstream of PAX9. Plays a role in controlling the development of connections of hypothalamic neurons to pituitary elements, allowing central neurons to reach the peripheral blood circulation and to deliver hormones for control of peripheral functions (By similarity).',NULL,NULL,NULL,NULL,NULL),(13791,'UniProt Function',NULL,16506,NULL,'Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding. Axon repulsion in growth cones may be caused by its association with DCC that may trigger signaling for repulsion. Also involved in corticospinal tract axon guidances independently of DCC. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand.',NULL,NULL,NULL,NULL,NULL),(13792,'UniProt Function',NULL,16507,NULL,'Receptor for the netrin NTN4 that promotes neuronal cell survival (By similarity). Plays a role in cell-cell adhesion and cell guidance. Receptor for netrin involved in cell migration. Plays a role in axon guidance by mediating axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding (By similarity). May play a role in apoptosis in response to DNA damage (PubMed:24691657). It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand (PubMed:24519068). Mediates cell-cell adhesion via its interaction with FLRT3 on an adjacent cell (By similarity).',NULL,NULL,NULL,NULL,NULL),(13793,'UniProt Function',NULL,16508,NULL,'TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. TFIIA in a complex with TBP mediates transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(13794,'UniProt Function',NULL,16509,NULL,'Component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides substance P or neurotensin that controls neuronal excitability.',NULL,NULL,NULL,NULL,NULL),(13795,'UniProt Function',NULL,16510,NULL,'Component of the NALCN sodium channel complex, required for channel regulation. This complex is a cation channel activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular calcium.',NULL,NULL,NULL,NULL,NULL),(13796,'UniProt Function',NULL,16511,NULL,'Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.',NULL,NULL,NULL,NULL,NULL),(13797,'UniProt Function',NULL,16512,NULL,'E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Interacts with SMAD1 and SMAD7 in order to trigger their ubiquitination and proteasome-dependent degradation. In addition, interaction with SMAD7 activates autocatalytic degradation, which is prevented by interaction with SCYE1. Forms a stable complex with the TGF-beta receptor-mediated phosphorylated SMAD2 and SMAD3. In this way, SMAD2 may recruit substrates, such as SNON, for ubiquitin-mediated degradation. Enhances the inhibitory activity of SMAD7 and reduces the transcriptional activity of SMAD2. Coexpression of SMURF2 with SMAD1 results in considerable decrease in steady-state level of SMAD1 protein and a smaller decrease of SMAD2 level.',NULL,NULL,NULL,NULL,NULL),(13798,'UniProt Function',NULL,16516,NULL,'Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Golgi apparatus SMS1 directly and specifically recognizes the choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Major form in macrophages. Required for cell growth in certain cell types such as HeLa cells. Suppresses BAX-mediated apoptosis and also prevents cell death in response to stimuli such as hydrogen peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids. May protect against cell death by reversing the stress-inducible increase in levels of proapoptotic ceramide.',NULL,NULL,NULL,NULL,NULL),(13799,'UniProt Function',NULL,16517,NULL,'Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption.',NULL,NULL,NULL,NULL,NULL),(13800,'UniProt Function',NULL,16518,NULL,'Plays a role in intracellular membrane fusion.',NULL,NULL,NULL,NULL,NULL),(13801,'UniProt Function',NULL,16521,NULL,'Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Plays a role in endocytosis via clathrin-coated pits, but also clathrin-independent, actin-dependent fluid-phase endocytosis. Plays a role in macropinocytosis. Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane tubulation. Stimulates the GTPase activity of DNM2. Promotes DNM2 location at the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(13802,'UniProt Function',NULL,16522,NULL,'Involved in several stages of intracellular trafficking. Interacts with membranes phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate (Probable). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex (PubMed:19935774). The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Does not have in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Involved in retrograde endosome-to-TGN transport of lysosomal enzyme receptor IGF2R (PubMed:17148574). May function as link between transport vesicles and dynactin (Probable). Negatively regulates retrograde transport of BACE1 from the cell surface to the trans-Golgi network (PubMed:20354142). Involved in E-cadherin sorting and degradation; inhibits PIP5K1C isoform 3-mediated E-cadherin degradation (PubMed:24610942). In association with GIT1 involved in EGFR degradation. Promotes lysosomal degradation of CDKN1B (By similarity). May contribute to transcription regulation (Probable).',NULL,NULL,NULL,NULL,NULL),(13803,'UniProt Function',NULL,16523,NULL,'SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS1 is involved in negative regulation of cytokines that signal through the JAK/STAT3 pathway. Through binding to JAKs, inhibits their kinase activity. In vitro, also suppresses Tec protein-tyrosine activity. Appears to be a major regulator of signaling by interleukin 6 (IL6) and leukemia inhibitory factor (LIF). Regulates interferon-gamma mediated sensory neuron survival (By similarity). Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Seems to recognize JAK2. SOCS1 appears to be a negative regulator in IGF1R signaling pathway.',NULL,NULL,NULL,NULL,NULL),(13804,'UniProt Function',NULL,16524,NULL,'May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(13805,'UniProt Function',NULL,16527,NULL,'Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi.',NULL,NULL,NULL,NULL,NULL),(13806,'UniProt Function',NULL,16528,NULL,'Transcription factor that plays a central role in developing and mature glia. Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Once induced, MYRF cooperates with SOX10 to implement the myelination program. Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087).',NULL,NULL,NULL,NULL,NULL),(13807,'UniProt Function',NULL,16529,NULL,'Transcriptional activator. Binds to the DNA sequence 5\'-ACAAT-3\' and shows a preference for guanine residues surrounding this core motif.',NULL,NULL,NULL,NULL,NULL),(13808,'UniProt Function',NULL,16530,NULL,'Binds to the sequence 5\'-AACAAT-3\'.',NULL,NULL,NULL,NULL,NULL),(13809,'UniProt Function',NULL,16531,NULL,'Binds to the 5\'-AACAAT-3\' sequence.',NULL,NULL,NULL,NULL,NULL),(13810,'UniProt Function',NULL,16532,NULL,'Transcriptional activator. Binds specifically to the DNA sequence 5\'-AACAAT-3\'. Plays a key role in several developmental processes, including neurogenesis and skeleton formation.',NULL,NULL,NULL,NULL,NULL),(13811,'UniProt Function',NULL,16533,NULL,'Binds to and activates the CDH5 promoter, hence plays a role in the transcriptional regulation of genes expressed in the hemogenic endothelium and blocks further differentiation into blood precursors (By similarity). May be required for the survival of both hematopoietic and endothelial precursors during specification (By similarity). Competes with GATA4 for binding and activation of the FGF3 promoter (By similarity). Represses Wnt/beta-catenin-stimulated transcription, probably by targeting CTNNB1 to proteasomal degradation. Binds the DNA sequence 5\'-AACAAT-3\'.',NULL,NULL,NULL,NULL,NULL),(13812,'UniProt Function',NULL,16534,NULL,'May play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5\'-[AT][AT]CAA[AT]G-3\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(13813,'UniProt Function',NULL,16535,NULL,'May play a role as an activator of transcription of OPRM1.',NULL,NULL,NULL,NULL,NULL),(13814,'UniProt Function',NULL,16536,NULL,'Together with PML, this tumor suppressor is a major constituent of the PML bodies, a subnuclear organelle involved in a large number of physiological processes including cell growth, differentiation and apoptosis. Functions as a transcriptional coactivator of ETS1 and ETS2 according to PubMed:11909962. Under certain conditions, it may also act as a corepressor of ETS1 preventing its binding to DNA according to PubMed:15247905. Through the regulation of ETS1 it may play a role in angiogenesis, controlling endothelial cell motility and invasion. Through interaction with the MRN complex it may be involved in the regulation of telomeres lengthening. May also regulate TP53-mediated transcription and through CASP8AP2, regulate FAS-mediated apoptosis. Also plays a role in infection by viruses, including human cytomegalovirus and Epstein-Barr virus, through mechanisms that may involve chromatin and/or transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(13815,'UniProt Function',NULL,16537,NULL,'Promotes cell proliferation.',NULL,NULL,NULL,NULL,NULL),(13816,'UniProt Function',NULL,16539,NULL,'Protease inhibitor that inhibits trypsin and trypsin-like serine proteases (in vitro). Inhibits plasmin and thrombin with lower efficiency (in vitro).',NULL,NULL,NULL,NULL,NULL),(13817,'UniProt Function',NULL,16540,NULL,'ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated (PubMed:11809724, PubMed:15716377, PubMed:16219033, PubMed:17389232, PubMed:20530212, PubMed:22637577, PubMed:26875866). Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). Severing activity is not dependent on tubulin acetylation or detyrosination (PubMed:26875866). Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. It is critical for the biogenesis and maintenance of complex microtubule arrays in axons, spindles and cilia. SPAST is involved in abscission step of cytokinesis and nuclear envelope reassembly during anaphase in cooperation with the ESCRT-III complex (PubMed:19000169, PubMed:21310966, PubMed:26040712). Recruited at the midbody, probably by IST1, and participates in membrane fission during abscission together with the ESCRT-III complex (PubMed:21310966). Recruited to the nuclear membrane by IST1 and mediates microtubule severing, promoting nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and endosome recycling (PubMed:23897888). Recruited by IST1 to endosomes and regulates early endosomal tubulation and recycling by mediating microtubule severing (PubMed:23897888). Probably plays a role in axon growth and the formation of axonal branches (PubMed:15716377).',NULL,NULL,NULL,NULL,NULL),(13818,'UniProt Function',NULL,16540,NULL,'Isoform 1: Involved in lipid metabolism by regulating the size and distribution of lipid droplets.',NULL,NULL,NULL,NULL,NULL),(13819,'UniProt Function',NULL,16541,NULL,'Bridging factor that mediates the recruitment of CYLD to the LUBAC complex, thereby regulating TNF-alpha-induced necroptosis (PubMed:27307491, PubMed:27458237, PubMed:27545878, PubMed:27591049). Acts as a direct binding intermediate that bridges RNF31/HOIP, the catalytic subunit of the LUBAC complex, and the deubiquitinase (CYLD), thereby recruiting CYLD to the TNF-R1 signaling complex (TNF-RSC) (PubMed:27458237, PubMed:27545878, PubMed:27591049). Required to activate the \'Met-1\'- (linear) and \'Lys-63\'-linked deubiquitinase activities of CYLD (PubMed:27458237, PubMed:27591049). Controls the kinase activity of RIPK1 and TNF-alpha-induced necroptosis by promoting \'Met-1\'-linked deubiquitination of RIPK1 by CYLD (By similarity).',NULL,NULL,NULL,NULL,NULL),(13820,'UniProt Function',NULL,16542,NULL,'May play a role in cardiac physiology.',NULL,NULL,NULL,NULL,NULL),(13821,'UniProt Function',NULL,16543,NULL,'May play a role in testicular development/spermatogenesis and may be an important factor in male infertility.',NULL,NULL,NULL,NULL,NULL),(13822,'UniProt Function',NULL,16544,NULL,'Adapter protein involved in invadopodia and podosome formation, extracellular matrix degradation and invasiveness of some cancer cells. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. In association with ADAM12, mediates the neurotoxic effect of amyloid-beta peptide.',NULL,NULL,NULL,NULL,NULL),(13823,'UniProt Function',NULL,16545,NULL,'Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking. Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation. Also mediates poly-ADP-ribosylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination. Mediates poly-ADP-ribosylation of TERF1, thereby contributing to the regulation of telomere length. May also regulate vesicle trafficking and modulate the subcellular distribution of SLC2A4/GLUT4-vesicles. Stimulates 26S proteasome activity.',NULL,NULL,NULL,NULL,NULL),(13824,'UniProt Function',NULL,16546,NULL,'Involved in fertilization ability of sperm.',NULL,NULL,NULL,NULL,NULL),(13825,'UniProt Function',NULL,16547,NULL,'Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation.',NULL,NULL,NULL,NULL,NULL),(13826,'UniProt Function',NULL,16552,NULL,'Negatively regulates Ras signaling pathways and downstream activation of MAP kinases.',NULL,NULL,NULL,NULL,NULL),(13827,'UniProt Function',NULL,16553,NULL,'Involved in the regulation of the microtubule (MT) filament system by destabilizing microtubules. Prevents assembly and promotes disassembly of microtubules. Phosphorylation at Ser-16 may be required for axon formation during neurogenesis. Involved in the control of the learned and innate fear (By similarity).',NULL,NULL,NULL,NULL,NULL),(13828,'UniProt Function',NULL,16554,NULL,'Involved in iron cellular uptake. Seems to be internalized and then recycled back to the cell membrane. Binds a single atom of iron per subunit. Could also bind zinc.',NULL,NULL,NULL,NULL,NULL),(13829,'UniProt Function',NULL,16555,NULL,'Receptor for thyrotropin-releasing hormone. This receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(13830,'UniProt Function',NULL,16556,NULL,'Constant region of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:28920588, PubMed:23348415). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714).',NULL,NULL,NULL,NULL,NULL),(13831,'UniProt Function',NULL,16557,NULL,'Involved in regulating the levels of reactive oxidative species and reactive nitrogen species and in mitochondrial homeostasis in the placenta (PubMed:24738702). Required for regulation of inner ear epithelial cell proliferation via the AKT signaling pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(13832,'UniProt Function',NULL,16557,NULL,'Isoform A: Involved in cell cycle regulation by binding to the CCNB1 promoter, up-regulating its expression and promoting mitotic entry (PubMed:22253775). Induces phosphorylation of MAPT/tau (PubMed:22995177).',NULL,NULL,NULL,NULL,NULL),(13833,'UniProt Function',NULL,16558,NULL,'Specific inactivation of TRH after its release.',NULL,NULL,NULL,NULL,NULL),(13834,'UniProt Function',NULL,16559,NULL,'Poly(A) polymerase that creates the 3\'-poly(A) tail of specific pre-mRNAs. Localizes to nuclear speckles together with PIP5K1A and mediates polyadenylation of a select set of mRNAs, such as HMOX1. In addition to polyadenylation, it is also required for the 3\'-end cleavage of pre-mRNAs: binds to the 3\'UTR of targeted pre-mRNAs and promotes the recruitment and assembly of the CPSF complex on the 3\'UTR of pre-mRNAs. In addition to adenylyltransferase activity, also has uridylyltransferase activity. However, the ATP ratio is higher than UTP in cells, suggesting that it functions primarily as a poly(A) polymerase. Acts as a specific terminal uridylyltransferase for U6 snRNA in vitro: responsible for a controlled elongation reaction that results in the restoration of the four 3\'-terminal UMP-residues found in newly transcribed U6 snRNA. Not involved in replication-dependent histone mRNA degradation.',NULL,NULL,NULL,NULL,NULL),(13835,'UniProt Function',NULL,16560,NULL,'Functions as retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1 (PubMed:9452451, PubMed:18316031, PubMed:22665496). Retinol uptake is enhanced by LRAT, an enzyme that converts retinol to all-trans retinyl esters, the storage forms of vitamin A (PubMed:18316031, PubMed:22665496). Contributes to the activation of a signaling cascade that depends on retinol transport and LRAT-dependent generation of retinol metabolites that then trigger activation of JAK2 and its target STAT5, and ultimately increase the expression of SOCS3 and inhibit cellular responses to insulin (PubMed:21368206, PubMed:22665496). Important for the homeostasis of vitamin A and its derivatives, such as retinoic acid (PubMed:18316031). STRA6-mediated transport is particularly important in the eye, and under conditions of dietary vitamin A deficiency (Probable). Does not transport retinoic acid (PubMed:18316031).',NULL,NULL,NULL,NULL,NULL),(13836,'UniProt Function',NULL,16561,NULL,'Calmodulin-binding protein which may function as scaffolding or signaling protein and may play a role in dendritic Ca(2+) signaling.',NULL,NULL,NULL,NULL,NULL),(13837,'UniProt Function',NULL,16562,NULL,'The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. STRAP plays a role in the cellular distribution of the SMN complex. Negatively regulates TGF-beta signaling but positively regulates the PDPK1 kinase activity by enhancing its autophosphorylation and by significantly reducing the association of PDPK1 with 14-3-3 protein.',NULL,NULL,NULL,NULL,NULL),(13838,'UniProt Function',NULL,16563,NULL,'Plays a role in the innate immune defense against viruses. Facilitates the type I IFN response by interacting with MAVS at the outer mitochondria membrane and thereby recruiting NF-kappa-B essential modulator IKBKG/NEMO to the MAVS signalosome, leading to the activation of both the IFN regulatory factor 3/IRF3 and NF-kappa-B pathways (PubMed:24379373). Positively regulates the CGAS-induced type I interferon signaling pathway by stabilizing CGAS and inhibiting its autophagic degradation (PubMed:27666593).',NULL,NULL,NULL,NULL,NULL),(13839,'UniProt Function',NULL,16564,NULL,'Involved in spermatogenesis and sperm function. Plays a role in regulation of cell growth. Binds to double-stranded DNA and RNA. Binds most efficiently to poly(I:C) RNA than to poly(dI:dC) DNA. Binds also to single-stranded poly(G) RNA. Binds non-specifically to the mRNA PRM1 3\'-UTR and adenovirus VA RNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(13840,'UniProt Function',NULL,16565,NULL,'Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination.',NULL,NULL,NULL,NULL,NULL),(13841,'UniProt Function',NULL,16566,NULL,'Interferon-induced antiviral protein involved in cell innate immunity. The antiviral activity could in part be mediated by TRIM22-dependent ubiquitination of viral proteins. Plays a role in restricting the replication of HIV-1, encephalomyocarditis virus (EMCV) and hepatitis B virus (HBV). Acts as a transcriptional repressor of HBV core promoter. May have E3 ubiquitin-protein ligase activity.',NULL,NULL,NULL,NULL,NULL),(13842,'UniProt Function',NULL,16567,NULL,'E3 ubiquitin-protein ligase which regulates the IFN-beta production and antiviral response downstream of various DNA-encoded pattern-recognition receptors (PRRs). Promotes nuclear IRF3 ubiquitination and proteasomal degradation. Bridges together TBK1 and NEMO during the innate response to viral infection leading to the activation of TBK1.',NULL,NULL,NULL,NULL,NULL),(13843,'UniProt Function',NULL,16568,NULL,'Plays a role in hormone and neurotransmitter exocytosis (By similarity). Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm.',NULL,NULL,NULL,NULL,NULL),(13844,'UniProt Function',NULL,16569,NULL,'Plays a crucial role in the regulation of macrophage activation in response to viral or bacterial infections within the respiratory tract. Mechanistically, TRIM29 interacts with IKBKG/NEMO in the lysosome where it induces its \'Lys-48\' ubiquitination and subsequent degradation. In turn, the expression of type I interferons and the production of proinflammatory cytokines are inhibited. Additionally, induces the \'Lys-48\' ubiquitination of TMEM173/STING in a similar way, leading to its degradation.',NULL,NULL,NULL,NULL,NULL),(13845,'UniProt Function',NULL,16570,NULL,'Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm.',NULL,NULL,NULL,NULL,NULL),(13846,'UniProt Function',NULL,16571,NULL,'Potentially involved in docking of synaptic vesicles at presynaptic active zones.',NULL,NULL,NULL,NULL,NULL),(13847,'UniProt Function',NULL,16572,NULL,'Reduces FGFR1-dependent tyrosine phosphorylation of PKM, inhibiting PKM-dependent lactate production, glucose metabolism, and cell growth (PubMed:25263439). Involved in the cell death mechanism (By similarity).',NULL,NULL,NULL,NULL,NULL),(13848,'UniProt Function',NULL,16573,NULL,'Catalytically inactive phosphatase (PubMed:20180778, PubMed:23163895). By binding to G3BP1, inhibits the formation of G3BP1-induced stress granules (PubMed:20180778, PubMed:23163895). Does not act by protecting the dephosphorylation of G3BP1 at \'Ser-149\' (PubMed:23163895). Inhibits PTPMT1 phosphatase activity (PubMed:24709986). By inhibiting PTPMT1, positively regulates intrinsic apoptosis (PubMed:21262771). May play a role in the formation of neurites during neuronal development (PubMed:29250526).',NULL,NULL,NULL,NULL,NULL),(13849,'UniProt Function',NULL,16574,NULL,'E3 ubiquitin ligase induced during late erythropoiesis. Directly binds and ubiquitinates the intermediate chain of the microtubule motor dynein (DYNC1LI1/DYNC1LI2), stimulating the degradation of the dynein holoprotein complex. May participate in the erythroblast enucleation process through regulation of nuclear polarization.',NULL,NULL,NULL,NULL,NULL),(13850,'UniProt Function',NULL,16576,NULL,'Functions as a ubiquitin E3 ligase. Acts as a coactivator of androgen receptor (AR) depending on its ubiquitin ligase activity.',NULL,NULL,NULL,NULL,NULL),(13851,'UniProt Function',NULL,16577,NULL,'Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane (PubMed:23931759). Likewise, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes (in vitro) and probably functions as a PA transporter across the mitochondrion intermembrane space (in vivo) (PubMed:26071602). Mediates cell survival by inhibiting activation of caspase-9 which prevents induction of apoptosis (PubMed:15735003).',NULL,NULL,NULL,NULL,NULL),(13852,'UniProt Function',NULL,16578,NULL,'Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The alpha subunit of the enzyme binds the substrates coenzyme A and phosphate, while succinate binding and specificity for either ATP or GTP is provided by different beta subunits.',NULL,NULL,NULL,NULL,NULL),(13853,'UniProt Function',NULL,16579,NULL,'Interacts with MAPK kinases and regulates activation of MAP kinases. Does not display kinase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(13854,'UniProt Function',NULL,16580,NULL,'Disrupts insulin signaling by binding directly to Akt kinases and blocking their activation. May bind directly to and mask the \'Thr-308\' phosphorylation site in AKT1. Binds to ATF4 and inhibits its transcriptional activation activity. Interacts with the NF-kappa-B transactivator p65 RELA and inhibits its phosphorylation and thus its transcriptional activation activity. Interacts with MAPK kinases and regulates activation of MAP kinases. May play a role in programmed neuronal cell death but does not appear to affect non-neuronal cells. Does not display kinase activity. Inhibits the transcriptional activity of DDIT3/CHOP and is involved in DDIT3/CHOP-dependent cell death during ER stress. Can inhibit APOBEC3A editing of nuclear DNA.',NULL,NULL,NULL,NULL,NULL),(13855,'UniProt Function',NULL,16581,NULL,'GTP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit.',NULL,NULL,NULL,NULL,NULL),(13856,'UniProt Function',NULL,16582,NULL,'May play a role in microtubule stabilization.',NULL,NULL,NULL,NULL,NULL),(13857,'UniProt Function',NULL,16583,NULL,'Probably involved in vesicular trafficking via its association with the CART complex (PubMed:15772161). The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Positively regulates motility of microtubule-dependent motor protein KIF21B (By similarity).',NULL,NULL,NULL,NULL,NULL),(13858,'UniProt Function',NULL,16584,NULL,'Capsid-specific restriction factor that prevents infection from non-host-adapted retroviruses. Blocks viral replication early in the life cycle, after viral entry but before reverse transcription. In addition to acting as a capsid-specific restriction factor, also acts as a pattern recognition receptor that activates innate immune signaling in response to the retroviral capsid lattice. Binding to the viral capsid triggers its E3 ubiquitin ligase activity, and in concert with the heterodimeric ubiquitin conjugating enzyme complex UBE2V1-UBE2N (also known as UBC13-UEV1A complex) generates \'Lys-63\'-linked polyubiquitin chains, which in turn are catalysts in the autophosphorylation of the MAP3K7/TAK1 complex (includes TAK1, TAB2, and TAB3). Activation of the MAP3K7/TAK1 complex by autophosphorylation results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes, thereby leading to an innate immune response in the infected cell. Restricts infection by N-tropic murine leukemia virus (N-MLV), equine infectious anemia virus (EIAV), simian immunodeficiency virus of macaques (SIVmac), feline immunodeficiency virus (FIV), and bovine immunodeficiency virus (BIV) (PubMed:17156811). Plays a role in regulating autophagy through activation of autophagy regulator BECN1 by causing its dissociation from its inhibitors BCL2 and TAB2 (PubMed:25127057). Also plays a role in autophagy by acting as a selective autophagy receptor which recognizes and targets HIV-1 capsid protein p24 for autophagic destruction (PubMed:25127057).',NULL,NULL,NULL,NULL,NULL),(13859,'UniProt Function',NULL,16585,NULL,'Probable E3 ubiquitin-protein ligase which plays an important role in blastocyst development.',NULL,NULL,NULL,NULL,NULL),(13860,'UniProt Function',NULL,16587,NULL,'Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:8643598, PubMed:27418539). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202). In developing hippocampal neurons, limits dendrite formation, without affecting the establishment of axon polarity. Once dendrites are formed, involved in the control of synaptic function by regulating the endocytosis of AMPA-selective glutamate receptors (AMPARs) at CA1 excitatory synapses (By similarity). May act as a regulator of adipogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(13861,'UniProt Function',NULL,16588,NULL,'Transcription coactivator which associates with nuclear receptors, transcriptional coactivators including EP300, CREBBP and NCOA1, and basal transcription factors like TBP and TFIIA to facilitate nuclear receptors-mediated transcription. May thereby play an important role in establishing distinct coactivator complexes under different cellular conditions. Plays a role in thyroid hormone receptor and estrogen receptor transactivation (PubMed:10454579, PubMed:25219498). Also involved in androgen receptor transactivation (By similarity). Plays a pivotal role in the transactivation of NF-kappa-B, SRF and AP1. Acts as a mediator of transrepression between nuclear receptor and either AP1 or NF-kappa-B (PubMed:12077347). May play a role in the development of neuromuscular junction (PubMed:26924529). May play a role in late myogenic differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(13862,'UniProt Function',NULL,16589,NULL,'Relays signals from the cell surface to the nucleus to weaken adherens junction and promote actin cytoskeleton reorganization and cell invasiveness. Involved in lysophosphatidic acid-induced cell adhesion and migration. Acts as a transcriptional coactivator for NF-kappa-B and JUN, and mediates the transrepression of these transcription factors induced by glucocorticoid receptor.',NULL,NULL,NULL,NULL,NULL),(13863,'UniProt Function',NULL,16590,NULL,'Binds the ligand binding domain of the thyroid receptor (THRB) in the presence of triiodothyronine and enhances THRB-modulated transcription. Golgi auto-antigen; probably involved in maintaining cis-Golgi structure.',NULL,NULL,NULL,NULL,NULL),(13864,'UniProt Function',NULL,16591,NULL,'May play a role in cell growth and maintenance of cell morphology.',NULL,NULL,NULL,NULL,NULL),(13865,'UniProt Function',NULL,16592,NULL,'Exoribonuclease that is part of the telomerase RNA 3\' end processing complex and which has the ability to all four unpaired RNA nucleotides from 5\' end or 3\' end with higher efficiency for purine bases (PubMed:28322335).',NULL,NULL,NULL,NULL,NULL),(13866,'UniProt Function',NULL,16594,NULL,'Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination.',NULL,NULL,NULL,NULL,NULL),(13867,'UniProt Function',NULL,16595,NULL,'Catalyzes the attachment of serine to tRNA(Ser) in a two-step reaction: serine is first activated by ATP to form Ser-AMP and then transferred to the acceptor end of tRNA(Ser) (PubMed:22353712, PubMed:24095058, PubMed:9431993, PubMed:26433229, PubMed:28236339). Is probably also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec) (PubMed:9431993, PubMed:26433229, PubMed:28236339). In the nucleus, binds to the VEGFA core promoter and prevents MYC binding and transcriptional activation by MYC (PubMed:24940000). Recruits SIRT2 to the VEGFA promoter, promoting deacetylation of histone H4 at \'Lys-16\' (H4K16). Thereby, inhibits the production of VEGFA and sprouting angiogenesis mediated by VEGFA (PubMed:19423848, PubMed:19423847, PubMed:24940000).',NULL,NULL,NULL,NULL,NULL),(13868,'UniProt Function',NULL,16596,NULL,'Catalyzes the attachment of serine to tRNA(Ser). Is also probably able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec).',NULL,NULL,NULL,NULL,NULL),(13869,'UniProt Function',NULL,16597,NULL,'Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors, EGFR and PDGFRB, on the cell surface. Exhibits negligigle protein tyrosine phosphatase activity at neutral pH. May act as a dominant-negative regulator of UBASH3B-dependent dephosphorylation. May inhibit dynamin-dependent endocytic pathways by functionally sequestering dynamin via its SH3 domain.',NULL,NULL,NULL,NULL,NULL),(13870,'UniProt Function',NULL,16599,NULL,'May be involved in the reorganization of actin cytoskeleton mediated by RND1, RND2 AND RND3. Promotes RHOA activation mediated by GNA12 and GNA13 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13871,'UniProt Function',NULL,16601,NULL,'Ubiquitin-binding protein that plays a role in the modulation of innate immune response. Blocks both the RIG-I-like receptors (RLR) and NF-kappa-B pathways. Following viral infection, UBXN1 is induced and recruited to the RLR component MAVS. In turn, interferes with MAVS oligomerization, and disrupts the MAVS/TRAF3/TRAF6 signalosome. This function probably serves as a brake to prevent excessive RLR signaling (PubMed:23545497). Interferes with the TNFalpha-triggered NF-kappa-B pathway by interacting with cellular inhibitors of apoptosis proteins (cIAPs) and thereby inhibiting their recruitment to TNFR1 (PubMed:25681446). Prevents also the activation of NF-kappa-B by associating with CUL1 and thus inhibiting NF-kappa-B inhibitor alpha/NFKBIA degradation that remains bound to NF-kappa-B (PubMed:28152074). Interacts with the BRCA1-BARD1 heterodimer and regulates its activity. Specifically binds \'Lys-6\'-linked polyubiquitin chains. Interaction with autoubiquitinated BRCA1 leads to the inhibition of the E3 ubiquitin-protein ligase activity of the BRCA1-BARD1 heterodimer (PubMed:20351172). Component of a complex required to couple deglycosylation and proteasome-mediated degradation of misfolded proteins in the endoplasmic reticulum that are retrotranslocated in the cytosol.',NULL,NULL,NULL,NULL,NULL),(13872,'UniProt Function',NULL,16602,NULL,'UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Active on odorants and seems to be involved in olfaction; it could help clear lipophilic odorant molecules from the sensory epithelium.',NULL,NULL,NULL,NULL,NULL),(13873,'UniProt Function',NULL,16603,NULL,'UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme is active on polyhydroxylated estrogens (such as estriol, 4-hydroxyestrone and 2-hydroxyestriol) and xenobiotics (such as 4-methylumbelliferone, 1-naphthol, 4-nitrophenol, 2-aminophenol, 4-hydroxybiphenyl and menthol). It is capable of 6 alpha-hydroxyglucuronidation of hyodeoxycholic acid.',NULL,NULL,NULL,NULL,NULL),(13874,'UniProt Function',NULL,16604,NULL,'UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity).',NULL,NULL,NULL,NULL,NULL),(13875,'UniProt Function',NULL,16605,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.',NULL,NULL,NULL,NULL,NULL),(13876,'UniProt Function',NULL,16606,NULL,'UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The major substrates of this isozyme are eugenol > 4-methylumbelliferone > dihydrotestosterone (DHT) > androstane-3-alpha,17-beta-diol (3-alpha-diol) > testosterone > androsterone (ADT).',NULL,NULL,NULL,NULL,NULL),(13877,'UniProt Function',NULL,16607,NULL,'E2-like enzyme which forms an intermediate with UFM1 via a thioester linkage.',NULL,NULL,NULL,NULL,NULL),(13878,'UniProt Function',NULL,16609,NULL,'Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation (By similarity).',NULL,NULL,NULL,NULL,NULL),(13879,'UniProt Function',NULL,16611,NULL,'Multidomain protein that acts as a key epigenetic regulator by bridging DNA methylation and chromatin modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and recruits DNMT1 methyltransferase to ensure faithful propagation of the DNA methylation patterns through DNA replication. In addition to its role in maintenance of DNA methylation, also plays a key role in chromatin modification: through its tudor-like regions and PHD-type zinc fingers, specifically recognizes and binds histone H3 trimethylated at \'Lys-9\' (H3K9me3) and unmethylated at \'Arg-2\' (H3R2me0), respectively, and recruits chromatin proteins. Enriched in pericentric heterochromatin where it recruits different chromatin modifiers required for this chromatin replication. Also localizes to euchromatic regions where it negatively regulates transcription possibly by impacting DNA methylation and histone modifications. Has E3 ubiquitin-protein ligase activity by mediating the ubiquitination of target proteins such as histone H3 and PML. It is still unclear how E3 ubiquitin-protein ligase activity is related to its role in chromatin in vivo. May be involved in DNA repair.',NULL,NULL,NULL,NULL,NULL),(13880,'UniProt Function',NULL,16612,NULL,'Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr).',NULL,NULL,NULL,NULL,NULL),(13881,'UniProt Function',NULL,16613,NULL,'E3 ubiquitin-protein ligase that is an intermolecular hub protein in the cell cycle network. Through cooperative DNA and histone binding, may contribute to a tighter epigenetic control of gene expression in differentiated cells. Ubiquitinates cyclins, CCND1 and CCNE1, in an apparently phosphorylation-independent manner and induces G1 arrest. Also ubiquitinates PCNP leading to its degradation by the proteasome. E3 SUMO-, but not ubiquitin-, protein ligase for ZNF131.',NULL,NULL,NULL,NULL,NULL),(13882,'UniProt Function',NULL,16614,NULL,'Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr).',NULL,NULL,NULL,NULL,NULL),(13883,'UniProt Function',NULL,16615,NULL,'Required for mRNA export from the nucleus to the cytoplasm. Acts as an adapter that uses the DDX39B/UAP56-NFX1 pathway to ensure efficient mRNA export and delivering to the nuclear pore. Associates with spliced and unspliced mRNAs simultaneously with ALYREF/THOC4.',NULL,NULL,NULL,NULL,NULL),(13884,'UniProt Function',NULL,16616,NULL,'Ubiquitin-binding protein (PubMed:24627472). Specifically recognizes and binds \'Lys-63\'-linked ubiquitin (PubMed:19328070, Ref.37). Plays a central role in the BRCA1-A complex by specifically binding \'Lys-63\'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes \'Lys-63\'-linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity than \'Lys-63\'-linked ubiquitin. May interact with monoubiquitinated histones H2A and H2B; the relevance of such results is however unclear in vivo. Does not bind Lys-48\'-linked ubiquitin. May indirectly act as a transcriptional repressor by inhibiting the interaction of NR6A1 with the corepressor NCOR1.',NULL,NULL,NULL,NULL,NULL),(13885,'UniProt Function',NULL,16617,NULL,'Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.',NULL,NULL,NULL,NULL,NULL),(13886,'UniProt Function',NULL,16618,NULL,'May play a role in counteracting perturbation of actin filaments, such as after treatment with the actin depolymerizing microbial metabolite Chivosazole F.',NULL,NULL,NULL,NULL,NULL),(13887,'UniProt Function',NULL,16619,NULL,'Transcription elongation factor which increases mitochondrial RNA polymerase processivity. Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery.',NULL,NULL,NULL,NULL,NULL),(13888,'UniProt Function',NULL,16620,NULL,'May be a structural component of the sperm flagellum.',NULL,NULL,NULL,NULL,NULL),(13889,'UniProt Function',NULL,16621,NULL,'Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA.',NULL,NULL,NULL,NULL,NULL),(13890,'UniProt Function',NULL,16622,NULL,'Catalyzes the last of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme reduces the trans-2,3-enoyl-CoA fatty acid intermediate to an acyl-CoA that can be further elongated by entering a new cycle of elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.',NULL,NULL,NULL,NULL,NULL),(13891,'UniProt Function',NULL,16623,NULL,'Involved in ribosomal large subunit biogenesis. Binds the approximately 50 base pairs internal control region (ICR) of 5S ribosomal RNA genes. It is required for their RNA polymerase III-dependent transcription and may also maintain the transcription of other genes (PubMed:24120868). Also binds the transcribed 5S RNA\'s (By similarity).',NULL,NULL,NULL,NULL,NULL),(13892,'UniProt Function',NULL,16624,NULL,'Appears to promote apoptosis in a p53/TP53-independent manner.',NULL,NULL,NULL,NULL,NULL),(13893,'UniProt Function',NULL,16624,NULL,'Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.',NULL,NULL,NULL,NULL,NULL),(13894,'UniProt Function',NULL,16625,NULL,'Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.',NULL,NULL,NULL,NULL,NULL),(13895,'UniProt Function',NULL,16626,NULL,'Associated with the mammalian reproductive process. Catalyzes the cross-linking of proteins and the conjugation of polyamines to specific proteins in the seminal tract.',NULL,NULL,NULL,NULL,NULL),(13896,'UniProt Function',NULL,16627,NULL,'Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes.',NULL,NULL,NULL,NULL,NULL),(13897,'UniProt Function',NULL,16629,NULL,'Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.',NULL,NULL,NULL,NULL,NULL),(13898,'UniProt Function',NULL,16632,NULL,'Contributes to the degradation of bradykinin. Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro.',NULL,NULL,NULL,NULL,NULL),(13899,'UniProt Function',NULL,16633,NULL,'Membrane-bound metalloprotease which catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro. May play a role in the metabolism of the vasodilator bradykinin.',NULL,NULL,NULL,NULL,NULL),(13900,'UniProt Function',NULL,16637,NULL,'Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 N-terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and form large disulfide-bond oligomers, leading to their inactivation. Able to cleave WNT3A, WNT5, but not WNT11. Required for head formation.',NULL,NULL,NULL,NULL,NULL),(13901,'UniProt Function',NULL,16638,NULL,'Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space.',NULL,NULL,NULL,NULL,NULL),(13902,'UniProt Function',NULL,16639,NULL,'Participates in the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Also required for assembly of mitochondrial respiratory chain complex I and complex IV as component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex. Probably shuttles between the presequence translocase and respiratory-chain assembly intermediates in a process that promotes incorporation of early nuclear-encoded subunits into these complexes.',NULL,NULL,NULL,NULL,NULL),(13903,'UniProt Function',NULL,16640,NULL,'J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(13904,'UniProt Function',NULL,16641,NULL,'Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis.',NULL,NULL,NULL,NULL,NULL),(13905,'UniProt Function',NULL,16644,NULL,'Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by PAX5, and by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES. Essential for the transcriptional repressor activity of SIX3 during retina and lens development and for SIX3 transcriptional auto-repression (By similarity).',NULL,NULL,NULL,NULL,NULL),(13906,'UniProt Function',NULL,16645,NULL,'As a major component of focal adhesion plaques that links integrin to the actin cytoskeleton, may play an important role in cell adhesion. Recruits PIP5K1C to focal adhesion plaques and strongly activates its kinase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(13907,'UniProt Function',NULL,16646,NULL,'Serine protease.',NULL,NULL,NULL,NULL,NULL),(13908,'UniProt Function',NULL,16647,NULL,'Probable role in protein transport. May regulate growth factor-induced mitogenic signaling.',NULL,NULL,NULL,NULL,NULL),(13909,'UniProt Function',NULL,16648,NULL,'Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(13910,'UniProt Function',NULL,16649,NULL,'Mitochondrial tRNA N(1)-methyltransferase involved in mitochondrial tRNA maturation (PubMed:18984158, PubMed:21593607, PubMed:23042678, PubMed:27132592). Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and MRPP3, which cleaves tRNA molecules in their 5\'-ends (PubMed:18984158). Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; TRMT10C/MRPP1 acting as the catalytic N(1)-methyltransferase subunit (PubMed:23042678). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5\'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3\'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705). In addition to tRNA N(1)-methyltransferase activity, TRMT10C/MRPP1 also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA (PubMed:29072297).',NULL,NULL,NULL,NULL,NULL),(13911,'UniProt Function',NULL,16655,NULL,'Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR7 is a nucleotide-sensing TLR which is activated by single-stranded RNA. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity).',NULL,NULL,NULL,NULL,NULL),(13912,'UniProt Function',NULL,16656,NULL,'In cancer cells, plays a role in resistance to the chemotherapeutic agent cisplatin.',NULL,NULL,NULL,NULL,NULL),(13913,'UniProt Function',NULL,16659,NULL,'May function as a negative regulator of endoplasmic reticulum-stress induced autophagy.',NULL,NULL,NULL,NULL,NULL),(13914,'UniProt Function',NULL,16663,NULL,'Transcription activator that binds DNA elements with the consensus sequence 5\'-CGGTAATTGG-3\'. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract (By similarity).',NULL,NULL,NULL,NULL,NULL),(13915,'UniProt Function',NULL,16664,NULL,'Potential channel-forming protein implicated in import of protein precursors into mitochondria.',NULL,NULL,NULL,NULL,NULL),(13916,'UniProt Function',NULL,16666,NULL,'Required for normal motor neuron development (By similarity). Required for autophagosome formation (PubMed:30093494).',NULL,NULL,NULL,NULL,NULL),(13917,'UniProt Function',NULL,16671,NULL,'Endoplasmic reticulum membrane protein that promotes endoplasmic reticulum-associated endosome fission (PubMed:30220460). Localizes to contact sites between the endoplasmic reticulum and endosomes and acts by promoting recruitment of the endoplasmic reticulum to endosome tubules for fission (PubMed:30220460). Endosome membrane fission of early and late endosomes is essential to separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane (PubMed:30220460).',NULL,NULL,NULL,NULL,NULL),(13918,'UniProt Function',NULL,16672,NULL,'May be involved in the regulation of the proteolytic processing of the amyloid precursor protein (APP) possibly also implicating APOE.',NULL,NULL,NULL,NULL,NULL),(13919,'UniProt Function',NULL,16674,NULL,'Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis (PubMed:27212239). In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store (PubMed:27212239).',NULL,NULL,NULL,NULL,NULL),(13920,'UniProt Function',NULL,16676,NULL,'Probable Na(+)/H(+) antiporter.',NULL,NULL,NULL,NULL,NULL),(13921,'UniProt Function',NULL,16683,NULL,'Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase.',NULL,NULL,NULL,NULL,NULL),(13922,'UniProt Function',NULL,16684,NULL,'Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity).',NULL,NULL,NULL,NULL,NULL),(13923,'UniProt Function',NULL,16685,NULL,'Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity).',NULL,NULL,NULL,NULL,NULL),(13924,'UniProt Function',NULL,16686,NULL,'Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton.',NULL,NULL,NULL,NULL,NULL),(13925,'UniProt Function',NULL,16687,NULL,'Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response.',NULL,NULL,NULL,NULL,NULL),(13926,'UniProt Function',NULL,16690,NULL,'Transcriptional activator involved in T-cell lymphocyte differentiation. Necessary for the survival of CD4(+) CD8(+) immature thymocytes. Isoforms lacking the N-terminal CTNNB1 binding domain cannot fulfill this role. Binds to the T-lymphocyte-specific enhancer element (5\'-WWCAAAG-3\') found in the promoter of the CD3E gene. May also act as feedback transcriptional repressor of CTNNB1 and TCF7L2 target genes. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7 and CTNNB1.',NULL,NULL,NULL,NULL,NULL),(13927,'UniProt Function',NULL,16691,NULL,'Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters.',NULL,NULL,NULL,NULL,NULL),(13928,'UniProt Function',NULL,16692,NULL,'Isoform 2: Negatively regulates the plasma membrane cation channel TRPM8 activity. Involved in the recruitment of TRPM8 to the cell surface. Promotes prostate cancer cell migration stimulation in a TRPM8-dependent manner.',NULL,NULL,NULL,NULL,NULL),(13929,'UniProt Function',NULL,16695,NULL,'Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.',NULL,NULL,NULL,NULL,NULL),(13930,'UniProt Function',NULL,16696,NULL,'Major thyroid hormone transport protein in serum.',NULL,NULL,NULL,NULL,NULL),(13931,'UniProt Function',NULL,16698,NULL,'Transcriptional repressor that plays a central role for embryogenesis and the pluripotency of embryonic stem (ES) cells. Sequence-specific DNA-binding factor that represses gene expression in pluripotent ES cells by directly binding to key genetic loci and recruiting epigenetic modifiers (By similarity).',NULL,NULL,NULL,NULL,NULL),(13932,'UniProt Function',NULL,16699,NULL,'Plays a major role in ketone body metabolism.',NULL,NULL,NULL,NULL,NULL),(13933,'UniProt Function',NULL,16700,NULL,'Isoform 1: Acts as a catabolic phospho-lyase on both gamma- and beta-phosphorylated substrates. Degrades O-phospho-threonine (PThr) to alpha-ketobutyrate, ammonia and phosphate (By similarity).',NULL,NULL,NULL,NULL,NULL),(13934,'UniProt Function',NULL,16700,NULL,'Isoform SOFAT: Potent inducer of osteoblastic production of IL6. May act to exacerbate inflammation and/or bone turnover under inflammatory conditions.',NULL,NULL,NULL,NULL,NULL),(13935,'UniProt Function',NULL,16701,NULL,'Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing.',NULL,NULL,NULL,NULL,NULL),(13936,'UniProt Function',NULL,16702,NULL,'Transmembrane tyrosine-protein kinase that may modulate TEK/TIE2 activity and contribute to the regulation of angiogenesis.',NULL,NULL,NULL,NULL,NULL),(13937,'UniProt Function',NULL,16704,NULL,'Binds with high affinity to the poliovirus receptor (PVR) which causes increased secretion of IL10 and decreased secretion of IL12B and suppresses T-cell activation by promoting the generation of mature immunoregulatory dendritic cells.',NULL,NULL,NULL,NULL,NULL),(13938,'UniProt Function',NULL,16705,NULL,'May participate in diverse steps of neurogenesis. Inhibits the processing of pro-matrix metalloproteinase 2 (MMP-2) by MT1-MMP and MT3-MMP. May interfere with tumor invasion.',NULL,NULL,NULL,NULL,NULL),(13939,'UniProt Function',NULL,16706,NULL,'Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-8, MMP-9, MMP-10, MMP-13, MMP-14, MMP-15, MMP-16 and MMP-19.',NULL,NULL,NULL,NULL,NULL),(13940,'UniProt Function',NULL,16707,NULL,'J region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).',NULL,NULL,NULL,NULL,NULL),(13941,'UniProt Function',NULL,16708,NULL,'As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions.',NULL,NULL,NULL,NULL,NULL),(13942,'UniProt Function',NULL,16711,NULL,'Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis (PubMed:12198173, PubMed:15538381, PubMed:15467755, PubMed:17030608, PubMed:19179481, PubMed:20702587, PubMed:24700863, PubMed:25106868, PubMed:25014217, PubMed:26542173). Acts as a 3\'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery (PubMed:15687258). Functions by recruiting the CCR4-NOT deadenylase complex and components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promotes ARE-mediated mRNA deadenylation and decay processes (PubMed:15687258, PubMed:18326031, PubMed:25106868). Induces also the degradation of ARE-containing mRNAs even in absence of poly(A) tail (By similarity). Binds to 3\'-UTR ARE of numerous mRNAs (PubMed:12198173, PubMed:15538381, PubMed:15467755, PubMed:17030608, PubMed:19179481, PubMed:20702587, PubMed:24700863, PubMed:25106868, PubMed:25014217, PubMed:26542173). Positively regulates early adipogenesis by promoting ARE-mediated mRNA decay of immediate early genes (IEGs) (By similarity). Promotes ARE-mediated mRNA decay of mineralocorticoid receptor NR3C2 mRNA in response to hypertonic stress (PubMed:24700863). Negatively regulates hematopoietic/erythroid cell differentiation by promoting ARE-mediated mRNA decay of the transcription factor STAT5B mRNA (PubMed:20702587). Positively regulates monocyte/macrophage cell differentiation by promoting ARE-mediated mRNA decay of the cyclin-dependent kinase CDK6 mRNA (PubMed:26542173). Promotes degradation of ARE-containing pluripotency-associated mRNAs in embryonic stem cells (ESCs), such as NANOG, through a fibroblast growth factor (FGF)-induced MAPK-dependent signaling pathway, and hence attenuates ESC self-renewal and positively regulates mesendoderm differentiation (By similarity). May play a role in mediating pro-apoptotic effects in malignant B-cells by promoting ARE-mediated mRNA decay of BCL2 mRNA (PubMed:25014217). In association with ZFP36L2 maintains quiescence on developing B lymphocytes by promoting ARE-mediated decay of several mRNAs encoding cell cycle regulators that help B cells progress through the cell cycle, and hence ensuring accurate variable-diversity-joining (VDJ) recombination and functional immune cell formation (By similarity). Together with ZFP36L2 is also necessary for thymocyte development and prevention of T-cell acute lymphoblastic leukemia (T-ALL) transformation by promoting ARE-mediated mRNA decay of the oncogenic transcription factor NOTCH1 mRNA (By similarity). Participates in the delivery of target ARE-mRNAs to processing bodies (PBs) (PubMed:17369404). In addition to its cytosolic mRNA-decay function, plays a role in the regulation of nuclear mRNA 3\'-end processing; modulates mRNA 3\'-end maturation efficiency of the DLL4 mRNA through binding with an ARE embedded in a weak noncanonical polyadenylation (poly(A)) signal in endothelial cells (PubMed:21832157). Also involved in the regulation of stress granule (SG) and P-body (PB) formation and fusion (PubMed:15967811). Plays a role in vasculogenesis and endocardial development (By similarity). Plays a role in the regulation of keratinocyte proliferation, differentiation and apoptosis (PubMed:27182009). Plays a role in myoblast cell differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(13943,'UniProt Function',NULL,16716,NULL,'Possible molecular chaperone; assists the folding of proteins upon ATP hydrolysis.',NULL,NULL,NULL,NULL,NULL),(13944,'UniProt Function',NULL,16717,NULL,'Positively regulates the plasma membrane cation channel TRPM8 activity. Involved in the recruitment of TRPM8 to the cell surface. Promotes prostate cancer cell migration inhibition in a TRPM8-dependent manner.',NULL,NULL,NULL,NULL,NULL),(13945,'UniProt Function',NULL,16719,NULL,'Plays a role in the process of sperm capacitation and acrosome reactions. Probable receptor for the putative fertilization-promoting peptide (FPP) at the sperm membrane that may modulate the activity of the adenylyl cyclase cAMP pathway.',NULL,NULL,NULL,NULL,NULL),(13946,'UniProt Function',NULL,16720,NULL,'Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable).',NULL,NULL,NULL,NULL,NULL),(13947,'UniProt Function',NULL,16721,NULL,'May be involved in transcriptional regulation. Has in vitro transcription inhibition activity. Acts as a tumor suppressor in hepatocellular carcinoma (HCC) cells.',NULL,NULL,NULL,NULL,NULL),(13948,'UniProt Function',NULL,16722,NULL,'Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable).',NULL,NULL,NULL,NULL,NULL),(13949,'UniProt Function',NULL,16723,NULL,'Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). The TRiC complex plays a role in the folding of actin and tubulin (Probable).',NULL,NULL,NULL,NULL,NULL),(13950,'UniProt Function',NULL,16724,NULL,'Participates in the primary piRNA biogenesis pathway and is required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for the final steps of primary piRNA biogenesis by participating in the processing of 31-37 nt intermediates into mature piRNAs. May act in pi-bodies and piP-bodies by transferring piRNA precursors or intermediates to or between these granules.',NULL,NULL,NULL,NULL,NULL),(13951,'UniProt Function',NULL,16725,NULL,'Structural component of ciliary and flagellar microtubules. Forms filamentous polymers in the walls of ciliary and flagellar microtubules.',NULL,NULL,NULL,NULL,NULL),(13952,'UniProt Function',NULL,16727,NULL,'Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the MAJIN-TERB1-TERB2 complex, TERB1 probably mediates association with the shelterin/telosome complex via interaction with TERF1, promoting priming telomeric DNA attachment\'. Promotes telomere association with the nuclear envelope and deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity.',NULL,NULL,NULL,NULL,NULL),(13953,'UniProt Function',NULL,16728,NULL,'Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Phosphorylates cofilin at \'Ser-3\'. May play an important role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(13954,'UniProt Function',NULL,16729,NULL,'Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.',NULL,NULL,NULL,NULL,NULL),(13955,'UniProt Function',NULL,16731,NULL,'Can stimulate E2F-dependent transcription. Binds DNA cooperatively with E2F family members through the E2 recognition site, 5\'-TTTC[CG]CGC-3\', found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication (PubMed:8405995, PubMed:7739537). The E2F1:DP complex appears to mediate both cell proliferation and apoptosis. Blocks adipocyte differentiation by repressing CEBPA binding to its target gene promoters (PubMed:20176812).',NULL,NULL,NULL,NULL,NULL),(13956,'UniProt Function',NULL,16732,NULL,'Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(13957,'UniProt Function',NULL,16733,NULL,'Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively.',NULL,NULL,NULL,NULL,NULL),(13958,'UniProt Function',NULL,16733,NULL,'Latency-associated peptide: Required to maintain the Transforming growth factor beta-1 (TGF-beta-1) chain in a latent state during storage in extracellular matrix (PubMed:28117447). Associates non-covalently with TGF-beta-1 and regulates its activation via interaction with \'milieu molecules\', such as LTBP1, LRRC32/GARP and LRRC33/NRROS, that control activation of TGF-beta-1 (PubMed:2022183, PubMed:8617200, PubMed:8939931, PubMed:19750484, PubMed:22278742, PubMed:19651619). Interaction with LRRC33/NRROS regulates activation of TGF-beta-1 in macrophages and microglia (Probable). Interaction with LRRC32/GARP controls activation of TGF-beta-1 on the surface of activated regulatory T-cells (Tregs) (PubMed:19750484, PubMed:22278742, PubMed:19651619). Interaction with integrins (ITGAV:ITGB6 or ITGAV:ITGB8) results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-1 (PubMed:22278742, PubMed:28117447).',NULL,NULL,NULL,NULL,NULL),(13959,'UniProt Function',NULL,16733,NULL,'Transforming growth factor beta-1: Multifunctional protein that regulates the growth and differentiation of various cell types and is involved in various processes, such as normal development, immune function, microglia function and responses to neurodegeneration (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains remain non-covalently linked rendering TGF-beta-1 inactive during storage in extracellular matrix (PubMed:29109152). At the same time, LAP chain interacts with \'milieu molecules\', such as LTBP1, LRRC32/GARP and LRRC33/NRROS that control activation of TGF-beta-1 and maintain it in a latent state during storage in extracellular milieus (PubMed:2022183, PubMed:8617200, PubMed:8939931, PubMed:19750484, PubMed:22278742, PubMed:19651619). TGF-beta-1 is released from LAP by integrins (ITGAV:ITGB6 or ITGAV:ITGB8): integrin-binding to LAP stabilizes an alternative conformation of the LAP bowtie tail and results in distortion of the LAP chain and subsequent release of the active TGF-beta-1 (PubMed:22278742, PubMed:28117447). Once activated following release of LAP, TGF-beta-1 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (PubMed:20207738). While expressed by many cells types, TGF-beta-1 only has a very localized range of action within cell environment thanks to fine regulation of its activation by Latency-associated peptide chain (LAP) and \'milieu molecules\' (By similarity). Plays an important role in bone remodeling: acts as a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts (By similarity). Can promote either T-helper 17 cells (Th17) or regulatory T-cells (Treg) lineage differentiation in a concentration-dependent manner (By similarity). At high concentrations, leads to FOXP3-mediated suppression of RORC and down-regulation of IL-17 expression, favoring Treg cell development (By similarity). At low concentrations in concert with IL-6 and IL-21, leads to expression of the IL-17 and IL-23 receptors, favoring differentiation to Th17 cells (By similarity). Stimulates sustained production of collagen through the activation of CREB3L1 by regulated intramembrane proteolysis (RIP) (PubMed:25310401). Mediates SMAD2/3 activation by inducing its phosphorylation and subsequent translocation to the nucleus (PubMed:25893292). Can induce epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types (PubMed:25893292).',NULL,NULL,NULL,NULL,NULL),(13960,'UniProt Function',NULL,16734,NULL,'Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells (PubMed:27114531). Required for normal structure and function of the retina (PubMed:19093009).',NULL,NULL,NULL,NULL,NULL),(13961,'UniProt Function',NULL,16735,NULL,'RNA-binding protein. Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis.',NULL,NULL,NULL,NULL,NULL),(13962,'UniProt Function',NULL,16736,NULL,'Inhibits TIFA-mediated TRAF6 activation possibly by inducing a conformational change in TIFA.',NULL,NULL,NULL,NULL,NULL),(13963,'UniProt Function',NULL,16737,NULL,'Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7 and MMP-9.',NULL,NULL,NULL,NULL,NULL),(13964,'UniProt Function',NULL,16738,NULL,'Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix.',NULL,NULL,NULL,NULL,NULL),(13965,'UniProt Function',NULL,16739,NULL,'Plays an essential role in total transketolase activity and cell proliferation in cancer cells; after transfection with anti-TKTL1 siRNA, total transketolase activity dramatically decreases and proliferation was significantly inhibited in cancer cells. Plays a pivotal role in carcinogenesis.',NULL,NULL,NULL,NULL,NULL),(13966,'UniProt Function',NULL,16740,NULL,'Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. Represses IFIH1-mediated cellular antiviral response (PubMed:17600090).',NULL,NULL,NULL,NULL,NULL),(13967,'UniProt Function',NULL,16741,NULL,'Participates in the innate immune response to microbial agents. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity).',NULL,NULL,NULL,NULL,NULL),(13968,'UniProt Function',NULL,16742,NULL,'Adapter protein involved in I-kappa-B-kinase (IKK) regulation which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity. Acts as a regulator of TRAF function by maintaining them in a latent state. Blocks TRAF2 binding to LMP1 and inhibits LMP1-mediated NF-kappa-B activation. Negatively regulates NF-kappaB signaling and cell survival upon DNA damage (PubMed:25861989). Plays a role as an adapter to assemble ZC3H12A, USP10 in a deubiquitination complex which plays a negative feedback response to attenuate NF-kappaB activation through the deubiquitination of IKBKG or TRAF6 in response to interleukin-1-beta (IL1B) stimulation or upon DNA damage (PubMed:25861989). Promotes UBP10-induced deubiquitination of TRAF6 in response to DNA damage (PubMed:25861989). May control negatively TRAF2-mediated NF-kappa-B activation signaled by CD40, TNFR1 and TNFR2.',NULL,NULL,NULL,NULL,NULL),(13969,'UniProt Function',NULL,16743,NULL,'Plays a role in primary cilia formation (PubMed:26365339). May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May be involved in cartilage and bone development (By similarity). May play a role in the differentiation of cranial neural crest cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(13970,'UniProt Function',NULL,16743,NULL,'(Microbial infection) In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain AD169.',NULL,NULL,NULL,NULL,NULL),(13971,'UniProt Function',NULL,16744,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.',NULL,NULL,NULL,NULL,NULL),(13972,'UniProt Function',NULL,16745,NULL,'Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization.',NULL,NULL,NULL,NULL,NULL),(13973,'UniProt Function',NULL,16746,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).',NULL,NULL,NULL,NULL,NULL),(13974,'UniProt Function',NULL,16747,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.',NULL,NULL,NULL,NULL,NULL),(13975,'UniProt Function',NULL,16748,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).',NULL,NULL,NULL,NULL,NULL),(13976,'UniProt Function',NULL,16749,NULL,'May play a role in spermatid differentiation. Modulates thymic stromal cell proliferation and thymus function.',NULL,NULL,NULL,NULL,NULL),(13977,'UniProt Function',NULL,16750,NULL,'Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.',NULL,NULL,NULL,NULL,NULL),(13978,'UniProt Function',NULL,16751,NULL,'Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4. Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to produce (PP)2-InsP4.',NULL,NULL,NULL,NULL,NULL),(13979,'UniProt Function',NULL,16753,NULL,'Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13980,'UniProt Function',NULL,16754,NULL,'Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13981,'UniProt Function',NULL,16755,NULL,'Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).',NULL,NULL,NULL,NULL,NULL),(13982,'UniProt Function',NULL,16756,NULL,'F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219). Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (PubMed:21240272).',NULL,NULL,NULL,NULL,NULL),(13983,'UniProt Function',NULL,16757,NULL,'Inhibits E-box-mediated binding and transactivation of bHLH factors. Inhibitory effect is similar to that of ID proteins. Inhibits the formation of TCF3 and MYOD1 homodimers and heterodimers. Lacks DNA binding activity. Seems to play a role in the inhibition of myogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(13984,'UniProt Function',NULL,16758,NULL,'Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity).',NULL,NULL,NULL,NULL,NULL),(13985,'UniProt Function',NULL,16759,NULL,'Required for proper retrograde ciliary transport.',NULL,NULL,NULL,NULL,NULL),(13986,'UniProt Function',NULL,16760,NULL,'May be an accessory component of axonemal dynein and cytoplasmic dynein 1. Candidate for involvement in male sterility (By similarity).',NULL,NULL,NULL,NULL,NULL),(13987,'UniProt Function',NULL,16761,NULL,'Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable).',NULL,NULL,NULL,NULL,NULL),(13988,'UniProt Function',NULL,16762,NULL,'Enhances the phosphorylation and activation of AKT1 and AKT2.',NULL,NULL,NULL,NULL,NULL),(13989,'UniProt Function',NULL,16764,NULL,'Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds to multiple functional elements of the human chorionic somatomammotropin-B gene enhancer.',NULL,NULL,NULL,NULL,NULL),(13990,'UniProt Function',NULL,16765,NULL,'Extracellular matrix protein implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity as well as neuronal regeneration. Promotes neurite outgrowth from cortical neurons grown on a monolayer of astrocytes. Ligand for integrins alpha-8/beta-1, alpha-9/beta-1, alpha-V/beta-3 and alpha-V/beta-6. In tumors, stimulates angiogenesis by elongation, migration and sprouting of endothelial cells (PubMed:19884327).',NULL,NULL,NULL,NULL,NULL),(13991,'UniProt Function',NULL,16767,NULL,'May be involved in transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(13992,'UniProt Function',NULL,16768,NULL,'Cytosolic prostaglandin synthase that catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2) (PubMed:10922363). Molecular chaperone that localizes to genomic response elements in a hormone-dependent manner and disrupts receptor-mediated transcriptional activation, by promoting disassembly of transcriptional regulatory complexes (PubMed:11274138, PubMed:12077419). Facilitates HIF alpha proteins hydroxylation via interaction with EGLN1/PHD2, leading to recruit EGLN1/PHD2 to the HSP90 pathway (PubMed:24711448).',NULL,NULL,NULL,NULL,NULL),(13993,'UniProt Function',NULL,16770,NULL,'Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5\' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi\'s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. THOC5 in conjunction with ALYREF/THOC4 functions in NXF1-NXT1 mediated nuclear export of HSP70 mRNA; both proteins enhance the RNA binding activity of NXF1 and are required for NXF1 localization to the nuclear rim. Involved in transcription elongation and genome stability. Involved in alternative polyadenylation site choice by recruiting CPSF6 to 5\' region of target genes; probably mediates association of the TREX and CFIm complexes.',NULL,NULL,NULL,NULL,NULL),(13994,'UniProt Function',NULL,16770,NULL,'Regulates the expression of myeloid transcription factors CEBPA, CEBPB and GAB2 by enhancing the levels of phosphatidylinositol 3,4,5-trisphosphate. May be involved in the differentiation of granulocytes and adipocytes. Essential for hematopoietic primitive cell survival and plays an integral role in monocytic development.',NULL,NULL,NULL,NULL,NULL),(13995,'UniProt Function',NULL,16771,NULL,'Thrombospondin type-1 domain-containing protein 7A: Plays a role in actin cytoskeleton rearrangement.',NULL,NULL,NULL,NULL,NULL),(13996,'UniProt Function',NULL,16771,NULL,'Thrombospondin type-1 domain-containing protein 7A, soluble form: The soluble form promotes endothelial cell migration and filopodia formation during sprouting angiogenesis via a FAK-dependent mechanism.',NULL,NULL,NULL,NULL,NULL),(13997,'UniProt Function',NULL,16772,NULL,'Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5\' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi\'s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. THOC2 (and probably the THO complex) is involved in releasing mRNA from nuclear speckle domains. Required for NXF1 localization to the nuclear rim. Plays a role for proper neuronal development.',NULL,NULL,NULL,NULL,NULL),(13998,'UniProt Function',NULL,16773,NULL,'Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5\' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi\'s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production.',NULL,NULL,NULL,NULL,NULL),(13999,'UniProt Function',NULL,16774,NULL,'Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively regulating the expression of TGFB regulatory targets, such as POSTN (By similarity).',NULL,NULL,NULL,NULL,NULL),(14000,'UniProt Function',NULL,16775,NULL,'Functions as a tRNA-binding adapter to mediate NAT10-dependent tRNA acetylation (PubMed:25653167).',NULL,NULL,NULL,NULL,NULL),(14001,'UniProt Function',NULL,16776,NULL,'Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3).',NULL,NULL,NULL,NULL,NULL),(14002,'UniProt Function',NULL,16777,NULL,'Modulates the activity of RHO-like proteins and connects extracellular signals to cytoskeletal activities. Acts as a GDP-dissociation stimulator protein that stimulates the GDP-GTP exchange activity of RHO-like GTPases and activates them. Mediates extracellular laminin signals to activate Rac1, contributing to neurite growth. Involved in lamellipodial formation and advancement of the growth cone of embryonic hippocampal neurons. Promotes migration of neurons in the cerebral cortex. When overexpressed, induces membrane ruffling accompanied by the accumulation of actin filaments along the altered plasma membrane (By similarity). Activates specifically RAC1, but not CDC42 and RHOA.',NULL,NULL,NULL,NULL,NULL),(14003,'UniProt Function',NULL,16778,NULL,'May participate in diverse steps of neurogenesis. Binds calcium.',NULL,NULL,NULL,NULL,NULL),(14004,'UniProt Function',NULL,16779,NULL,'Regulator of DNA replication and S/M and G2/M checkpoints. Regulates the triggering of DNA replication initiation via its interaction with TOPBP1 by participating in CDK2-mediated loading of CDC45L onto replication origins. Required for the transition from pre-replication complex (pre-RC) to pre-initiation complex (pre-IC). Required to prevent mitotic entry after treatment with ionizing radiation.',NULL,NULL,NULL,NULL,NULL),(14005,'UniProt Function',NULL,16780,NULL,'General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID (PubMed:2374612, PubMed:2363050, PubMed:2194289, PubMed:9836642, PubMed:27193682). Binding of TFIID to the TATA box is the initial transcriptional step of the pre-initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II (PubMed:2374612, PubMed:2363050, PubMed:2194289, PubMed:9836642, PubMed:27193682). Component of a BRF2-containing transcription factor complex that regulates transcription mediated by RNA polymerase III (PubMed:26638071). Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription (PubMed:15970593). The rate of PIC formation probably is primarily dependent on the rate of association of SL1 with the rDNA promoter. SL1 is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA.',NULL,NULL,NULL,NULL,NULL),(14006,'UniProt Function',NULL,16781,NULL,'Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).',NULL,NULL,NULL,NULL,NULL),(14007,'UniProt Function',NULL,16782,NULL,'General coactivator that functions cooperatively with TAFs and mediates functional interactions between upstream activators and the general transcriptional machinery. May be involved in stabilizing the multiprotein transcription complex. Binds single-stranded DNA. Also binds, in vitro, non-specifically to double-stranded DNA (ds DNA).',NULL,NULL,NULL,NULL,NULL),(14008,'UniProt Function',NULL,16783,NULL,'Structural component of ciliary and flagellar microtubules. Plays a key role in the assembly or attachment of the inner dynein arm to microtubules in sperm flagella and tracheal cilia. Forms filamentous polymers in the walls of ciliary and flagellar microtubules.',NULL,NULL,NULL,NULL,NULL),(14009,'UniProt Function',NULL,16784,NULL,'Neural extracellular matrix (ECM) protein involved in interactions with different cells and matrix components. These interactions can influence cellular behavior by either evoking a stable adhesion and differentiation, or repulsion and inhibition of neurite growth. Binding to cell surface gangliosides inhibits RGD-dependent integrin-mediated cell adhesion and results in an inhibition of PTK2/FAK1 (FAK) phosphorylation and cell detachment. Binding to membrane surface sulfatides results in a oligodendrocyte adhesion and differentiation. Interaction with CNTN1 induces a repulsion of neurons and an inhibition of neurite outgrowth. Interacts with SCN2B may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier. TNR-linked chondroitin sulfate glycosaminoglycans are involved in the interaction with FN1 and mediate inhibition of cell adhesion and neurite outgrowth. The highly regulated addition of sulfated carbohydrate structure may modulate the adhesive properties of TNR over the course of development and during synapse maintenance (By similarity).',NULL,NULL,NULL,NULL,NULL),(14010,'UniProt Function',NULL,16785,NULL,'Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Promotes the formation of filopodia and enlarged growth cone in neuronal cells. Induces homophilic cell-cell adhesion (By similarity). May function as a cellular signal transducer.',NULL,NULL,NULL,NULL,NULL),(14011,'UniProt Function',NULL,16785,NULL,'Isoform 2: Acts as a ligand of the ADGRL1 receptor. Mediates axon guidance and heterophilic cell-cell adhesion.',NULL,NULL,NULL,NULL,NULL),(14012,'UniProt Function',NULL,16785,NULL,'Ten-2 intracellular domain: Induces gene transcription inhibition.',NULL,NULL,NULL,NULL,NULL),(14013,'UniProt Function',NULL,16786,NULL,'Could regulate proteolytic events associated with testicular germ cell maturation.',NULL,NULL,NULL,NULL,NULL),(14014,'UniProt Function',NULL,16787,NULL,'Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the growth of epithelial tumors.',NULL,NULL,NULL,NULL,NULL),(14015,'UniProt Function',NULL,16788,NULL,'Component of the telomerase ribonucleoprotein complex that is essential for the replication of chromosome termini (PubMed:19179534). Also component of the ribonucleoprotein vaults particle, a multi-subunit structure involved in nucleo-cytoplasmic transport (By similarity). Responsible for the localizing and stabilizing vault RNA (vRNA) association in the vault ribonucleoprotein particle. Binds to TERC (By similarity).',NULL,NULL,NULL,NULL,NULL),(14016,'UniProt Function',NULL,16789,NULL,'Transcription factor that specifically recognizes and binds E-box sequences (5\'-CANNTG-3\'). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFE3 or MITF. In association with TFE3, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes and binds the CLEAR-box sequence (5\'-GTCACGTGAC-3\') present in the regulatory region of many lysosomal genes, leading to activate their expression. It thereby plays a central role in expression of lysosomal genes. Acts as a positive regulator of autophagy by promoting expression of genes involved in autophagy. Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer. Plays a role in the signal transduction processes required for normal vascularization of the placenta.',NULL,NULL,NULL,NULL,NULL),(14017,'UniProt Function',NULL,16790,NULL,'TGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar.',NULL,NULL,NULL,NULL,NULL),(14018,'UniProt Function',NULL,16791,NULL,'May be involved in regulating membrane traffic to and from trans-Golgi network.',NULL,NULL,NULL,NULL,NULL),(14019,'UniProt Function',NULL,16792,NULL,'Functions as a molecular adapter coordinating multiple protein-protein interactions at the focal adhesion complex and in the nucleus. Links various intracellular signaling modules to plasma membrane receptors and regulates the Wnt and TGFB signaling pathways. May also regulate SLC6A3 and SLC6A4 targeting to the plasma membrane hence regulating their activity. In the nucleus, functions as a nuclear receptor coactivator regulating glucocorticoid, androgen, mineralocorticoid and progesterone receptor transcriptional activity. May play a role in the processes of cell growth, proliferation, migration, differentiation and senescence. May have a zinc-dependent DNA-binding activity.',NULL,NULL,NULL,NULL,NULL),(14020,'UniProt Function',NULL,16793,NULL,'Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activities.',NULL,NULL,NULL,NULL,NULL),(14021,'UniProt Function',NULL,16795,NULL,'May constitute a control point in macrophage inflammatory response, promoting LPS-induced TNF production.',NULL,NULL,NULL,NULL,NULL),(14022,'UniProt Function',NULL,16796,NULL,'Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5\' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi\'s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Plays a role in apoptosis negative control involved in brain development.',NULL,NULL,NULL,NULL,NULL),(14023,'UniProt Function',NULL,16797,NULL,'Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5\' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway.',NULL,NULL,NULL,NULL,NULL),(14024,'UniProt Function',NULL,16797,NULL,'The TREX complex is essential for the export of Kaposi\'s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production.',NULL,NULL,NULL,NULL,NULL),(14025,'UniProt Function',NULL,16799,NULL,'Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich elements (AREs) located in mRNA 3\' untranslated regions (3\' UTRs). Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis.',NULL,NULL,NULL,NULL,NULL),(14026,'UniProt Function',NULL,16800,NULL,'Inhibits the cytotoxic effects of TNF-alpha and overexpressed TNF receptor adapters TRADD, FADD, and RIPK1. Involved in TGF-beta1 inhibition of IkappaB-alpha expression and suppression of TNF-mediated IkappaB-alpha degradation.',NULL,NULL,NULL,NULL,NULL),(14027,'UniProt Function',NULL,16801,NULL,'Nuclear corepressor for KRAB domain-containing zinc finger proteins (KRAB-ZFPs). Mediates gene silencing by recruiting CHD3, a subunit of the nucleosome remodeling and deacetylation (NuRD) complex, and SETDB1 (which specifically methylates histone H3 at \'Lys-9\' (H3K9me)) to the promoter regions of KRAB target genes. Enhances transcriptional repression by coordinating the increase in H3K9me, the decrease in histone H3 \'Lys-9 and \'Lys-14\' acetylation (H3K9ac and H3K14ac, respectively) and the disposition of HP1 proteins to silence gene expression. Recruitment of SETDB1 induces heterochromatinization. May play a role as a coactivator for CEBPB and NR3C1 in the transcriptional activation of ORM1. Also corepressor for ERBB4. Inhibits E2F1 activity by stimulating E2F1-HDAC1 complex formation and inhibiting E2F1 acetylation. May serve as a partial backup to prevent E2F1-mediated apoptosis in the absence of RB1. Important regulator of CDKN1A/p21(CIP1). Has E3 SUMO-protein ligase activity toward itself via its PHD-type zinc finger. Also specifically sumoylates IRF7, thereby inhibiting its transactivation activity. Ubiquitinates p53/TP53 leading to its proteosomal degradation; the function is enhanced by MAGEC2 and MAGEA2, and possibly MAGEA3 and MAGEA6. Mediates the nuclear localization of KOX1, ZNF268 and ZNF300 transcription factors. In association with isoform 2 of ZFP90, is required for the transcriptional repressor activity of FOXP3 and the suppressive function of regulatory T-cells (Treg) (PubMed:23543754). Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306). The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3\'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (PubMed:27029610). Acts as a corepressor for ZFP568 (By similarity).',NULL,NULL,NULL,NULL,NULL),(14028,'UniProt Function',NULL,16801,NULL,'(Microbial infection) Plays a critical role in the shutdown of lytic gene expression during the early stage of herpes virus 8 primary infection. This inhibition is mediated through interaction with herpes virus 8 protein LANA1.',NULL,NULL,NULL,NULL,NULL),(14029,'UniProt Function',NULL,16803,NULL,'Inhibitor of the cytoplasmic carboxypeptidase AGBL2, may regulate the alpha-tubulin tyrosination cycle.',NULL,NULL,NULL,NULL,NULL),(14030,'UniProt Function',NULL,16804,NULL,'May act as a guanine-nucleotide releasing factor.',NULL,NULL,NULL,NULL,NULL),(14031,'UniProt Function',NULL,16805,NULL,'GTPase that recruits MYO1E to MHC class II-containing vesicles via the effector protein ARL14EP and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells.',NULL,NULL,NULL,NULL,NULL),(14032,'UniProt Function',NULL,16806,NULL,'Degrades chitin and chitotriose. May participate in the defense against nematodes, fungi and other pathogens. Plays a role in T-helper cell type 2 (Th2) immune response. Contributes to the response to IL-13 and inflammation in response to IL-13. Stimulates chemokine production by pulmonary epithelial cells. Protects lung epithelial cells against apoptosis and promotes phosphorylation of AKT1. Its function in the inflammatory response and in protecting cells against apoptosis is inhibited by allosamidin, suggesting that the function of this protein depends on carbohydrate binding.',NULL,NULL,NULL,NULL,NULL),(14033,'UniProt Function',NULL,16807,NULL,'May play a role in developmental myelination of peripheral nerves.',NULL,NULL,NULL,NULL,NULL),(14034,'UniProt Function',NULL,16808,NULL,'Probably plays a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.',NULL,NULL,NULL,NULL,NULL),(14035,'UniProt Function',NULL,16809,NULL,'Ubiquitin E3 ligase that acts as a limiting factor for crossing-over during meiosis: required during zygonema to limit the colocalization of RNF212 with MutS-gamma-associated recombination sites and thereby establish early differentiation of crossover and non-crossover sites. Later, it is directed by MutL-gamma to stably accumulate at designated crossover sites. Probably promotes the dissociation of RNF212 and MutS-gamma to allow the progression of recombination and the implementation of the final steps of crossing over (By similarity). Modulates cyclin-B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis.',NULL,NULL,NULL,NULL,NULL),(14036,'UniProt Function',NULL,16809,NULL,'E3 ubiquitin-protein ligase. Modulates cyclin B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis.',NULL,NULL,NULL,NULL,NULL),(14037,'UniProt Function',NULL,16810,NULL,'Oncoprotein that inhibits PP2A and stabilizes MYC in human malignancies. Promotes anchorage-independent cell growth and tumor formation.',NULL,NULL,NULL,NULL,NULL),(14038,'UniProt Function',NULL,16811,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14039,'UniProt Function',NULL,16812,NULL,'Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L-Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine.',NULL,NULL,NULL,NULL,NULL),(14040,'UniProt Function',NULL,16813,NULL,'Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface.',NULL,NULL,NULL,NULL,NULL),(14041,'UniProt Function',NULL,16814,NULL,'Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity.',NULL,NULL,NULL,NULL,NULL),(14042,'UniProt Function',NULL,16815,NULL,'Cation channel that gives rise to very low constitutive currents in the absence of activation. The activated channel exhibits selectivity for sodium, and is inhibited by amiloride.',NULL,NULL,NULL,NULL,NULL),(14043,'UniProt Function',NULL,16816,NULL,'Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy.',NULL,NULL,NULL,NULL,NULL),(14044,'UniProt Function',NULL,16818,NULL,'Neuronal adhesion molecule that is required for normal migration of young postmitotic neuroblasts along glial fibers, especially in the cerebellum. Required for normal rate of migration of granule cells during brain development and for normal cerebellum development.',NULL,NULL,NULL,NULL,NULL),(14045,'UniProt Function',NULL,16819,NULL,'Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable).',NULL,NULL,NULL,NULL,NULL),(14046,'UniProt Function',NULL,16820,NULL,'Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis in the adrenal gland and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity).',NULL,NULL,NULL,NULL,NULL),(14047,'UniProt Function',NULL,16821,NULL,'Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for potassium absorption in various tissues.',NULL,NULL,NULL,NULL,NULL),(14048,'UniProt Function',NULL,16822,NULL,'Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3.',NULL,NULL,NULL,NULL,NULL),(14049,'UniProt Function',NULL,16823,NULL,'Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport.',NULL,NULL,NULL,NULL,NULL),(14050,'UniProt Function',NULL,16824,NULL,'This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the contraction/relaxation cycle (PubMed:16402920). Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation (By similarity).',NULL,NULL,NULL,NULL,NULL),(14051,'UniProt Function',NULL,16825,NULL,'Component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable).',NULL,NULL,NULL,NULL,NULL),(14052,'UniProt Function',NULL,16826,NULL,'Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members function as impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN15 forms tight junctions that mediate the paracellular transport of small monovalent cations along a concentration gradient, due to selective permeability for Na(+), Li(+) and K(+) ions, but selects against Cl(-) ions. Plays an important role in paracellular Na(+) transport in the intestine and in Na(+) homeostasis. Required for normal Na(+)-dependent intestinal nutrient uptake.',NULL,NULL,NULL,NULL,NULL),(14053,'UniProt Function',NULL,16827,NULL,'Channel-forming tight junction protein with selectivity for anions, including chloride and bicarbonate, and for solutes smaller than 9 Angstrom in diameter. In the kidney proximal tubule, may be involved in quantitative reabsorption of filtered anions. Does not affect water permeability.',NULL,NULL,NULL,NULL,NULL),(14054,'UniProt Function',NULL,16828,NULL,'Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members play essential roles in the formation of impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN1 is required to prevent the paracellular diffusion of small molecules through tight junctions in the epidermis and is required for the normal barrier function of the skin. Required for normal water homeostasis and to prevent excessive water loss through the skin, probably via an indirect effect on the expression levels of other proteins, since CLDN1 itself seems to be dispensable for water barrier formation in keratinocyte tight junctions (PubMed:23407391).',NULL,NULL,NULL,NULL,NULL),(14055,'UniProt Function',NULL,16828,NULL,'(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes (PubMed:17325668, PubMed:20375010). Associates with CD81 and the CLDN1-CD81 receptor complex is essential for HCV entry into host cell (PubMed:20375010). Acts as a receptor for dengue virus (PubMed:24074594).',NULL,NULL,NULL,NULL,NULL),(14056,'UniProt Function',NULL,16830,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14057,'UniProt Function',NULL,16831,NULL,'Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia, inorganic phosphate and acetaldehyde.',NULL,NULL,NULL,NULL,NULL),(14058,'UniProt Function',NULL,16832,NULL,'Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes. May be involved in vesicle trafficking in neuronal cells. Involved in regulation of neurite outgrowth; acting in synergy with TMEM30A. Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival.',NULL,NULL,NULL,NULL,NULL),(14059,'UniProt Function',NULL,16833,NULL,'Channel-forming tight junction protein that mediates paracellular chloride transport in the kidney. Plays a critical role in the paracellular reabsorption of filtered chloride in the kidney collecting ducts. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14060,'UniProt Function',NULL,16834,NULL,'Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable).',NULL,NULL,NULL,NULL,NULL),(14061,'UniProt Function',NULL,16835,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space.',NULL,NULL,NULL,NULL,NULL),(14062,'UniProt Function',NULL,16836,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14063,'UniProt Function',NULL,16836,NULL,'(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) entry into hepatic cells.',NULL,NULL,NULL,NULL,NULL),(14064,'UniProt Function',NULL,16839,NULL,'Transcription factor that either stimulates or represses gene transcription through binding of different DNA regulatory elements such as cAMP response element (CRE) (consensus: 5\'-GTGACGT[AC][AG]-3\'), ATF5-specific response element (ARE) (consensus: 5\'-C[CT]TCT[CT]CCTT[AT]-3\') but also the amino acid response element (AARE), present in many viral and cellular promoters. Critically involved, often in a cell type-dependent manner, in cell survival, proliferation, and differentiation (PubMed:10373550, PubMed:15358120, PubMed:21212266, PubMed:20654631). Its transcriptional activity is enhanced by CCND3 and slightly inhibited by CDK4 (PubMed:15358120). Important regulator of the cerebral cortex formation, functions in cerebral cortical neuroprogenitor cells to maintain proliferation and to block differentiation into neurons. Must be down-regulated in order for such cells to exit the cycle and differentiate (By similarity). Participates in the pathways by which SHH promotes cerebellar granule neuron progenitor cells proliferation (By similarity). Critical for survival of mature olfactory sensory neurons (OSN), directs expression of OSN-specific genes (By similarity). May be involved in osteogenic differentiation (PubMed:22442021). Promotes cell proliferation and survival by inducing the expression of EGR1 sinergistically with ELK1. Once acetylated by EP300, binds to ARE sequences on target genes promoters, such as BCL2 and EGR1 (PubMed:21791614). Plays an anti-apoptotic role through the transcriptional regulation of BCL2, this function seems to be cell type-dependent (By similarity). Cooperates with NR1I3/CAR in the transcriptional activation of CYP2B6 in liver (PubMed:18332083). In hepatic cells, represses CRE-dependent transcription and inhibits proliferation by blocking at G2/M phase (PubMed:22528486, PubMed:18701499). May act as a negative regulator of IL1B transduction pathway in liver (PubMed:24379400). Upon IL1B stimulus, cooperates with NLK to activate the transactivation activity of C/EBP subfamily members (PubMed:25512613). Besides its function of transcription factor, acts as a cofactor of CEBPB to activate CEBPA and promote adipocyte differentiation (PubMed:24216764). Regulates centrosome dynamics in a cell-cycle- and centriole-age-dependent manner. Forms 9-foci symmetrical ring scaffold around the mother centriole to control centrosome function and the interaction between centrioles and pericentriolar material (PubMed:26213385).',NULL,NULL,NULL,NULL,NULL),(14065,'UniProt Function',NULL,16840,NULL,'E2-like enzyme involved in autophagy. Acts as an E2-like enzyme that catalyzes the conjugation of ATG12 to ATG5. ATG12 conjugation to ATG5 is required for autophagy. Likely serves as an ATG5-recognition molecule. Not involved in ATG12 conjugation to ATG3 (By similarity). Plays a role in adenovirus-mediated cell lysis.',NULL,NULL,NULL,NULL,NULL),(14066,'UniProt Function',NULL,16841,NULL,'Required for both autophagosome formation and regulation of lipid droplet morphology and dispersion.',NULL,NULL,NULL,NULL,NULL),(14067,'UniProt Function',NULL,16842,NULL,'Required for normal hearing (PubMed:24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315).',NULL,NULL,NULL,NULL,NULL),(14068,'UniProt Function',NULL,16844,NULL,'Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C-terminal amino acid of ATG8 family proteins to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Preferred substrate is GABARAPL2 followed by MAP1LC3A and GABARAP. Has also an activity of delipidating enzyme for the PE-conjugated forms.',NULL,NULL,NULL,NULL,NULL),(14069,'UniProt Function',NULL,16845,NULL,'Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C-terminal amino acid of ATG8 family proteins MAP1LC3, GABARAPL1, GABARAPL2 and GABARAP, to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Has also an activity of delipidating enzyme for the PE-conjugated forms.',NULL,NULL,NULL,NULL,NULL),(14070,'UniProt Function',NULL,16847,NULL,'Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Is not essential for autophagy development under normal conditions but is required for a proper autophagic response under stressful conditions such as prolonged starvation (By similarity). Cleaves the C-terminal amino acid of ATG8 family proteins MAP1LC3 and GABARAPL2, to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Has also an activity of delipidating enzyme for the PE-conjugated forms.',NULL,NULL,NULL,NULL,NULL),(14071,'UniProt Function',NULL,16848,NULL,'Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway.',NULL,NULL,NULL,NULL,NULL),(14072,'UniProt Function',NULL,16848,NULL,'May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.',NULL,NULL,NULL,NULL,NULL),(14073,'UniProt Function',NULL,16848,NULL,'(Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601).',NULL,NULL,NULL,NULL,NULL),(14074,'UniProt Function',NULL,16850,NULL,'Acts as an activating immune receptor through its interaction with ITAM-bearing adapter TYROBP, and also independently by recruitment of GRB2.',NULL,NULL,NULL,NULL,NULL),(14075,'UniProt Function',NULL,16851,NULL,'Receptor which may mediate L-selectin-dependent lymphocyte rollings. Binds SELL in a calcium dependent manner. Binds lymphocyte (By similarity).',NULL,NULL,NULL,NULL,NULL),(14076,'UniProt Function',NULL,16852,NULL,'Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane (PubMed:22431521).',NULL,NULL,NULL,NULL,NULL),(14077,'UniProt Function',NULL,16854,NULL,'Plays a role in the regulation of immunoreceptor signaling, including PLC-gamma-mediated B-cell antigen receptor (BCR) signaling and FC-epsilon R1-mediated mast cell degranulation. Involved in phosphorylation of LAT (By similarity).',NULL,NULL,NULL,NULL,NULL),(14078,'UniProt Function',NULL,16855,NULL,'Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal degradation.',NULL,NULL,NULL,NULL,NULL),(14079,'UniProt Function',NULL,16856,NULL,'Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots \'circa\' (about) and \'diem\' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for \'timegivers\'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5\'-CACGTG-3\') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. Regulates the circadian expression of ICAM1, VCAM1, CCL2, THPO and MPL and also acts as an enhancer of the transactivation potential of NF-kappaB. Plays an important role in the homeostatic regulation of sleep. The CLOCK-ARNTL/BMAL1 heterodimer regulates the circadian expression of SERPINE1/PAI1, VWF, B3, CCRN4L/NOC, NAMPT, DBP, MYOD1, PPARGC1A, PPARGC1B, SIRT1, GYS2, F7, NGFR, GNRHR, BHLHE40/DEC1, ATF4, MTA1, KLF10 and also genes implicated in glucose and lipid metabolism. Promotes rhythmic chromatin opening, regulating the DNA accessibility of other transcription factors. The CLOCK-ARNTL2/BMAL2 heterodimer activates the transcription of SERPINE1/PAI1 and BHLHE40/DEC1. The preferred binding motif for the CLOCK-ARNTL/BMAL1 heterodimer is 5\'-CACGTGA-3\', which contains a flanking Ala residue in addition to the canonical 6-nucleotide E-box sequence (PubMed:23229515). CLOCK specifically binds to the half-site 5\'-CAC-3\', while ARNTL binds to the half-site 5\'-GTGA-3\' (PubMed:23229515). The CLOCK-ARNTL/BMAL1 heterodimer also recognizes the non-canonical E-box motifs 5\'-AACGTGA-3\' and 5\'-CATGTGA-3\' (PubMed:23229515). CLOCK has an intrinsic acetyltransferase activity, which enables circadian chromatin remodeling by acetylating histones and nonhistone proteins, including its own partner ARNTL/BMAL1. Represses glucocorticoid receptor NR3C1/GR-induced transcriptional activity by reducing the association of NR3C1/GR to glucocorticoid response elements (GREs) via the acetylation of multiple lysine residues located in its hinge region (PubMed:21980503). The acetyltransferase activity of CLOCK is as important as its transcription activity in circadian control. Acetylates metabolic enzymes IMPDH2 and NDUFA9 in a circadian manner. Facilitated by BMAL1, rhythmically interacts and acetylates argininosuccinate synthase 1 (ASS1) leading to enzymatic inhibition of ASS1 as well as the circadian oscillation of arginine biosynthesis and subsequent ureagenesis (PubMed:28985504).',NULL,NULL,NULL,NULL,NULL),(14080,'UniProt Function',NULL,16859,NULL,'GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:18270207, PubMed:19665976, PubMed:27619977).',NULL,NULL,NULL,NULL,NULL),(14081,'UniProt Function',NULL,16860,NULL,'Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription.',NULL,NULL,NULL,NULL,NULL),(14082,'UniProt Function',NULL,16861,NULL,'Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates \'Ser-139\' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation. Phosphorylates ATF2 which stimulates its function in DNA damage response.',NULL,NULL,NULL,NULL,NULL),(14083,'UniProt Function',NULL,16862,NULL,'Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Gln (polyQ) repeats.',NULL,NULL,NULL,NULL,NULL),(14084,'UniProt Function',NULL,16863,NULL,'May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase.',NULL,NULL,NULL,NULL,NULL),(14085,'UniProt Function',NULL,16864,NULL,'Transcription factor that binds a palindromic (canonical) core consensus DNA sequence 5\'-CANNTG- 3\' known as an E-box element, possibly as a heterodimer with other bHLH proteins (PubMed:24236640). Regulates endothelial cell proliferation, migration and tube-like structures formation (PubMed:24463812). Modulates endothelial cell differentiation through NOS3 (PubMed:24463812). May be implicated in specification and differentiation of neuronal cell lineages in the brain (By similarity). May participate in kidney development and may be involved in podocyte differentiation (By similarity). During early embryonic development is involved in tissue-specific differentiation processes that are dependent on class II bHLH factors and namely modulates the differentiation program initiated by the pro-endocrine factor NEUROG3 (By similarity). During myogenesis, may play a role during the transition of myoblasts from the proliferative phase to the differentiation phase (By similarity). Positively regulates HAMP transcription in two ways, firstly by acting directly on the HAMP promoter via E-boxes binding and indirectly through increased phosphorylation of SMAD protein complex (PubMed:24236640). Repress NEUROG3-dependent gene activation in a gene-specific manner through at least two mechanisms; requires only either the sequestering of a general partner such as TCF3 through heterodimerization, either also requires binding of the bHLH domain to DNA via a basic motif (By similarity).',NULL,NULL,NULL,NULL,NULL),(14086,'UniProt Function',NULL,16865,NULL,'Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense.',NULL,NULL,NULL,NULL,NULL),(14087,'UniProt Function',NULL,16866,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane.',NULL,NULL,NULL,NULL,NULL),(14088,'UniProt Function',NULL,16867,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. Also involved in the restoration of oligomycin-sensitive ATPase activity to depleted F1-F0 complexes.',NULL,NULL,NULL,NULL,NULL),(14089,'UniProt Function',NULL,16868,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane.',NULL,NULL,NULL,NULL,NULL),(14090,'UniProt Function',NULL,16869,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By similarity).',NULL,NULL,NULL,NULL,NULL),(14091,'UniProt Function',NULL,16870,NULL,'Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(14092,'UniProt Function',NULL,16871,NULL,'Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload.',NULL,NULL,NULL,NULL,NULL),(14093,'UniProt Function',NULL,16873,NULL,'Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.',NULL,NULL,NULL,NULL,NULL),(14094,'UniProt Function',NULL,16874,NULL,'Water channel required to promote glycerol permeability and water transport across cell membranes. Acts as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may play an important role in gastrointestinal tract water transport and in glycerol metabolism (By similarity).',NULL,NULL,NULL,NULL,NULL),(14095,'UniProt Function',NULL,16875,NULL,'Inhibitor of lipoprotein binding to the low density lipoprotein (LDL) receptor, LDL receptor-related protein, and very low density lipoprotein (VLDL) receptor. Associates with high density lipoproteins (HDL) and the triacylglycerol-rich lipoproteins in the plasma and makes up about 10% of the protein of the VLDL and 2% of that of HDL. Appears to interfere directly with fatty acid uptake and is also the major plasma inhibitor of cholesteryl ester transfer protein (CETP). Binds free fatty acids and reduces their intracellular esterification. Modulates the interaction of APOE with beta-migrating VLDL and inhibits binding of beta-VLDL to the LDL receptor-related protein.',NULL,NULL,NULL,NULL,NULL),(14096,'UniProt Function',NULL,16876,NULL,'Forms a channel with a broad specificity. Mediates passage of a wide variety of non-charged solutes including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner, whereas amino acids, cyclic sugars, Na(+), K(+), Cl(-), and deprotonated monocarboxylates are excluded. Also permeable to urea and glycerol.',NULL,NULL,NULL,NULL,NULL),(14097,'UniProt Function',NULL,16877,NULL,'Capable of inducing cell cycle arrest in G1 and G2 phases. Acts as a tumor suppressor. Binds to MDM2 and blocks its nucleocytoplasmic shuttling by sequestering it in the nucleolus. This inhibits the oncogenic action of MDM2 by blocking MDM2-induced degradation of p53 and enhancing p53-dependent transactivation and apoptosis. Also induces G2 arrest and apoptosis in a p53-independent manner by preventing the activation of cyclin B1/CDC2 complexes. Binds to BCL6 and down-regulates BCL6-induced transcriptional repression. Binds to E2F1 and MYC and blocks their transcriptional activator activity but has no effect on MYC transcriptional repression. Binds to TOP1/TOPOI and stimulates its activity. This complex binds to rRNA gene promoters and may play a role in rRNA transcription and/or maturation. Interacts with NPM1/B23 and promotes its polyubiquitination and degradation, thus inhibiting rRNA processing. Interacts with COMMD1 and promotes its \'Lys63\'-linked polyubiquitination. Interacts with UBE2I/UBC9 and enhances sumoylation of a number of its binding partners including MDM2 and E2F1. Binds to HUWE1 and represses its ubiquitin ligase activity. May play a role in controlling cell proliferation and apoptosis during mammary gland development. Isoform smARF may be involved in regulation of autophagy and caspase-independent cell death; the short-lived mitochondrial isoform is stabilized by C1QBP.',NULL,NULL,NULL,NULL,NULL),(14098,'UniProt Function',NULL,16879,NULL,'Acts as a transcriptional repressor (PubMed:12724404). May function in the assembly and/or enzymatic activity of the Sin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes (PubMed:12724404). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4A. Involved in spermatogenesis, together with ARID4A, where it functions as a transcriptional coactivator for AR (androgen receptor) and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier. Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity).',NULL,NULL,NULL,NULL,NULL),(14099,'UniProt Function',NULL,16880,NULL,'May play a role in lysosomes motility. Alternatively, may play a role in chromosome segregation (By similarity).',NULL,NULL,NULL,NULL,NULL),(14100,'UniProt Function',NULL,16881,NULL,'Receptor with an affinity for galactose and fucose. Could be involved in endocytosis (By similarity).',NULL,NULL,NULL,NULL,NULL),(14101,'UniProt Function',NULL,16882,NULL,'Calcium-dependent lectin displaying mannose-binding specificity. Induces the formation of Birbeck granules (BGs); is a potent regulator of membrane superimposition and zippering. Binds to sulfated as well as mannosylated glycans, keratan sulfate (KS) and beta-glucans. Facilitates uptake of antigens and is involved in the routing and/or processing of antigen for presentation to T cells. Major receptor on primary Langerhans cells for Candida species, Saccharomyces species, and Malassezia furfur. Protects against human immunodeficiency virus-1 (HIV-1) infection. Binds to high-mannose structures present on the envelope glycoprotein which is followed by subsequent targeting of the virus to the Birbeck granules leading to its rapid degradation.',NULL,NULL,NULL,NULL,NULL),(14102,'UniProt Function',NULL,16883,NULL,'Binds high-mannose carbohydrates in a Ca(2+)-dependent manner (PubMed:28652405). Functional receptor for alpha-mannans on C.albicans hypheas. Plays an important role in the host defense against C.albicans infection by inducing TH17 cell differentiation. Recognizes also, in a mannose-dependent manner, allergens from house dust mite and fungi, by promoting cysteinyl leukotriene production. Recognizes soluble elements from the eggs of Shistosoma mansoni altering adaptive immune responses. Transduces signals through an Fc receptor gamma chain /FCER1G and Syk-CARD9-NF-kappa-B-dependent pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(14103,'UniProt Function',NULL,16884,NULL,'Possible role in EGF receptor signaling.',NULL,NULL,NULL,NULL,NULL),(14104,'UniProt Function',NULL,16885,NULL,'Plays a role in modulating chloride current across the plasma membrane in a calcium-dependent manner, and cell adhesion. Involved in basal cell adhesion and/or stratification of squamous epithelia. May act as a tumor suppressor in breast and colorectal cancer. Plays a key role for cell adhesion in the beginning stages of lung metastasis via the binding to ITGB4.',NULL,NULL,NULL,NULL,NULL),(14105,'UniProt Function',NULL,16886,NULL,'Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:21297582).',NULL,NULL,NULL,NULL,NULL),(14106,'UniProt Function',NULL,16887,NULL,'Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity).',NULL,NULL,NULL,NULL,NULL),(14107,'UniProt Function',NULL,16888,NULL,'Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at \'Lys-119\' (H2AK119ub1).',NULL,NULL,NULL,NULL,NULL),(14108,'UniProt Function',NULL,16889,NULL,'This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known.',NULL,NULL,NULL,NULL,NULL),(14109,'UniProt Function',NULL,16889,NULL,'Mediates cell adhesion of neurons and astrocytes, and promotes neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(14110,'UniProt Function',NULL,16890,NULL,'Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms.',NULL,NULL,NULL,NULL,NULL),(14111,'UniProt Function',NULL,16891,NULL,'This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients.',NULL,NULL,NULL,NULL,NULL),(14112,'UniProt Function',NULL,16892,NULL,'Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction.',NULL,NULL,NULL,NULL,NULL),(14113,'UniProt Function',NULL,16893,NULL,'Mediates the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the endosome and synaptic vesicle lumen, and may thereby affect vesicle trafficking and exocytosis. May play an important role in neuronal cell function through regulation of membrane excitability by protein kinase C. It could help neuronal cells to establish short-term memory.',NULL,NULL,NULL,NULL,NULL),(14114,'UniProt Function',NULL,16894,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By similarity).',NULL,NULL,NULL,NULL,NULL),(14115,'UniProt Function',NULL,16895,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements.',NULL,NULL,NULL,NULL,NULL),(14116,'UniProt Function',NULL,16896,NULL,'Chloride transport protein, initially identified as voltage-gated chloride channel. The presence of the conserved gating glutamate residues suggests that is functions as antiporter.',NULL,NULL,NULL,NULL,NULL),(14117,'UniProt Function',NULL,16897,NULL,'Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen.',NULL,NULL,NULL,NULL,NULL),(14118,'UniProt Function',NULL,16898,NULL,'This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.',NULL,NULL,NULL,NULL,NULL),(14119,'UniProt Function',NULL,16899,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.',NULL,NULL,NULL,NULL,NULL),(14120,'UniProt Function',NULL,16900,NULL,'Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell (PubMed:8530416). By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity).',NULL,NULL,NULL,NULL,NULL),(14121,'UniProt Function',NULL,16901,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14122,'UniProt Function',NULL,16902,NULL,'This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.',NULL,NULL,NULL,NULL,NULL),(14123,'UniProt Function',NULL,16903,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14124,'UniProt Function',NULL,16904,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14125,'UniProt Function',NULL,16905,NULL,'Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. In vitro, its ATPase activity is selectively and stereospecifically stimulated by phosphatidylserine (PS). The flippase complex ATP8A1:TMEM30A seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Acts as aminophospholipid translocase at the plasma membrane in neuronal cells.',NULL,NULL,NULL,NULL,NULL),(14126,'UniProt Function',NULL,16906,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14127,'UniProt Function',NULL,16907,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space.',NULL,NULL,NULL,NULL,NULL),(14128,'UniProt Function',NULL,16908,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space.',NULL,NULL,NULL,NULL,NULL),(14129,'UniProt Function',NULL,16908,NULL,'(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) entry into hepatic cells.',NULL,NULL,NULL,NULL,NULL),(14130,'UniProt Function',NULL,16909,NULL,'This protein binds the cAMP response element (CRE) (consensus: 5\'-GTGACGT[AC][AG]-3\'), a sequence present in many viral and cellular promoters. Represses transcription from promoters with ATF sites. It may repress transcription by stabilizing the binding of inhibitory cofactors at the promoter. Isoform 2 activates transcription presumably by sequestering inhibitory cofactors away from the promoters.',NULL,NULL,NULL,NULL,NULL),(14131,'UniProt Function',NULL,16910,NULL,'Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network (By similarity).',NULL,NULL,NULL,NULL,NULL),(14132,'UniProt Function',NULL,16911,NULL,'Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth and microtubule bundling. Links cytoplasmic vesicles to microtubules and thereby plays an important role in intracellular vesicle trafficking. Plays a role macropinocytosis and endosome trafficking.',NULL,NULL,NULL,NULL,NULL),(14133,'UniProt Function',NULL,16912,NULL,'Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity).',NULL,NULL,NULL,NULL,NULL),(14134,'UniProt Function',NULL,16913,NULL,'Functions as a cytoplasmic linker protein. Involved in TGN-endosome dynamics. May modulate the cellular compartmentalization of AKT kinase family and promote its cell membrane localization, thereby playing a role in glucose transport in adipocytes.',NULL,NULL,NULL,NULL,NULL),(14135,'UniProt Function',NULL,16914,NULL,'E2 conjugating enzyme required for the cytoplasm to vacuole transport (Cvt), autophagy, and mitochondrial homeostasis. Responsible for the E2-like covalent binding of phosphatidylethanolamine to the C-terminal Gly of ATG8-like proteins (GABARAP, GABARAPL1, GABARAPL2 or MAP1LC3A). The ATG12-ATG5 conjugate plays a role of an E3 and promotes the transfer of ATG8-like proteins from ATG3 to phosphatidylethanolamine (PE). This step is required for the membrane association of ATG8-like proteins. The formation of the ATG8-phosphatidylethanolamine conjugates is essential for autophagy and for the cytoplasm to vacuole transport (Cvt). Preferred substrate is MAP1LC3A. Also acts as an autocatalytic E2-like enzyme, catalyzing the conjugation of ATG12 to itself, ATG12 conjugation to ATG3 playing a role in mitochondrial homeostasis but not in autophagy. ATG7 (E1-like enzyme) facilitates this reaction by forming an E1-E2 complex with ATG3. Promotes primary ciliogenesis by removing OFD1 from centriolar satellites via the autophagic pathway.',NULL,NULL,NULL,NULL,NULL),(14136,'UniProt Function',NULL,16915,NULL,'Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Phosphorylates SRSF1 and SRSF3. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells.',NULL,NULL,NULL,NULL,NULL),(14137,'UniProt Function',NULL,16916,NULL,'Acts as an inhibitory receptor for myeloid cells and mast cells (PubMed:15549731). Positively regulates the phagocytosis of apoptotic cells (efferocytosis) via phosphatidylserine (PS) recognition; recognizes and binds PS as a ligand which is expressed on the surface of apoptotic cells. Plays an important role in the maintenance of immune homeostasis, by promoting macrophage-mediated efferocytosis and by inhibiting dendritic cell-mediated efferocytosis (By similarity). Negatively regulates Fc epsilon receptor-dependent mast cell activation and allergic responses via binding to ceramide and sphingomyelin which act as ligands (PubMed:24035150). May act as a coreceptor for interleukin 4 (IL-4). Associates with and regulates IL-4 receptor alpha-mediated responses by augmenting IL-4- and IL-13-induced signaling (By similarity). Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 and TRIF through activation of PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:22043923). Inhibits osteoclast formation. Induces macrophage cell death upon engagement (By similarity).',NULL,NULL,NULL,NULL,NULL),(14138,'UniProt Function',NULL,16917,NULL,'Cysteine protease ATG4D: Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C-terminal amino acid of ATG8 family proteins MAP1LC3 and GABARAPL2, to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Has also an activity of delipidating enzyme for the PE-conjugated forms.',NULL,NULL,NULL,NULL,NULL),(14139,'UniProt Function',NULL,16917,NULL,'Cysteine protease ATG4D, mitochondrial: Plays a role as an autophagy regulator that links mitochondrial dysfunction with apoptosis. The mitochondrial import of ATG4D during cellular stress and differentiation may play important roles in the regulation of mitochondrial physiology, ROS, mitophagy and cell viability.',NULL,NULL,NULL,NULL,NULL),(14140,'UniProt Function',NULL,16918,NULL,'May be involved in the cell-cell adhesion. May play a role in adipocyte differentiation and development of obesity. Is required for normal small intestine development.',NULL,NULL,NULL,NULL,NULL),(14141,'UniProt Function',NULL,16919,NULL,'Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle (By similarity).',NULL,NULL,NULL,NULL,NULL),(14142,'UniProt Function',NULL,16920,NULL,'Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle. Cycles between a juxta-nuclear trans-Golgi network compartment and late endosomes. Nutrient starvation induces accumulation on autophagosomes. Starvation-dependent trafficking requires ULK1, ATG13 and SUPT20H.',NULL,NULL,NULL,NULL,NULL),(14143,'UniProt Function',NULL,16921,NULL,'Endogenous F(1)F(o)-ATPase inhibitor limiting ATP depletion when the mitochondrial membrane potential falls below a threshold and the F(1)F(o)-ATP synthase starts hydrolyzing ATP to pump protons out of the mitochondrial matrix. Required to avoid the consumption of cellular ATP when the F(1)F(o)-ATP synthase enzyme acts as an ATP hydrolase. Indirectly acts as a regulator of heme synthesis in erythroid tissues: regulates heme synthesis by modulating the mitochondrial pH and redox potential, allowing FECH to efficiently catalyze the incorporation of iron into protoporphyrin IX to produce heme.',NULL,NULL,NULL,NULL,NULL),(14144,'UniProt Function',NULL,16922,NULL,'Enhances cisplatin-mediated apoptosis, when overexpressed.',NULL,NULL,NULL,NULL,NULL),(14145,'UniProt Function',NULL,16923,NULL,'May play a role in modulation of fibrillin microfibrils in the extracellular matrix (ECM).',NULL,NULL,NULL,NULL,NULL),(14146,'UniProt Function',NULL,16924,NULL,'Polynucleotide kinase that can phosphorylate the 5\'-hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double-stranded DNA (dsDNA) and double-stranded DNA:RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA:RNA hybrid is phosphorylated more efficiently than the DNA component. Plays a key role in both tRNA splicing and mRNA 3\'-end formation. Component of the tRNA splicing endonuclease complex: phosphorylates the 5\'-terminus of the tRNA 3\'-exon during tRNA splicing; this phosphorylation event is a prerequisite for the subsequent ligation of the two exon halves and the production of a mature tRNA (PubMed:24766809, PubMed:24766810). Its role in tRNA splicing and maturation is required for cerebellar development (PubMed:24766809, PubMed:24766810). Component of the pre-mRNA cleavage complex II (CF-II), which seems to be required for mRNA 3\'-end formation. Also phosphorylates the 5\'-terminus of exogenously introduced short interfering RNAs (siRNAs), which is a necessary prerequisite for their incorporation into the RNA-induced silencing complex (RISC). However, endogenous siRNAs and microRNAs (miRNAs) that are produced by the cleavage of dsRNA precursors by DICER1 already contain a 5\'-phosphate group, so this protein may be dispensible for normal RNA-mediated gene silencing.',NULL,NULL,NULL,NULL,NULL),(14147,'UniProt Function',NULL,16925,NULL,'GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:27619977). May also regulate Golgi biogenesis. May regulate axonal development.',NULL,NULL,NULL,NULL,NULL),(14148,'UniProt Function',NULL,16926,NULL,'GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:18270207, PubMed:19665976, PubMed:27619977).',NULL,NULL,NULL,NULL,NULL),(14149,'UniProt Function',NULL,16927,NULL,'May function as a regulatory ATPase and be related to secretion/protein trafficking process.',NULL,NULL,NULL,NULL,NULL),(14150,'UniProt Function',NULL,16928,NULL,'Transcriptional regulator. Activates E box-dependent transcription in collaboration with TCF3/E47, but the activity is completely antagonized by the negative regulator of neurogenesis HES1. Plays a role in the differentiation of subsets of neural cells by activating E box-dependent transcription (By similarity).',NULL,NULL,NULL,NULL,NULL),(14151,'UniProt Function',NULL,16930,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements.',NULL,NULL,NULL,NULL,NULL),(14152,'UniProt Function',NULL,16931,NULL,'May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells.',NULL,NULL,NULL,NULL,NULL),(14153,'UniProt Function',NULL,16932,NULL,'ATP-dependent specificity component of the Clp protease complex. Hydrolyzes ATP (PubMed:28874591). Targets specific substrates for degradation by the Clp complex (PubMed:11923310, PubMed:22710082). Can perform chaperone functions in the absence of CLPP. Enhances the DNA-binding activity of TFAM and is required for maintaining a normal mitochondrial nucleoid structure (PubMed:22841477). ATP-dependent unfoldase that stimulates the incorporation of the pyridoxal phosphate cofactor into 5-aminolevulinate synthase, thereby activating 5-aminolevulinate (ALA) synthesis, the first step in heme biosynthesis (PubMed:28874591). Important for efficient erythropoiesis through upregulation of heme biosynthesis (PubMed:25957689, PubMed:28874591).',NULL,NULL,NULL,NULL,NULL),(14154,'UniProt Function',NULL,16933,NULL,'May play a role in intracellular protein transport. May be involved in the translocation of APP along microtubules toward the cell surface.',NULL,NULL,NULL,NULL,NULL),(14155,'UniProt Function',NULL,16934,NULL,'Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an activator of lipoprotein lipase. Both proapolipoprotein C-II and apolipoprotein C-II can activate lipoprotein lipase. In normolipidemic individuals, it is mainly distributed in the HDL, whereas in hypertriglyceridemic individuals, predominantly found in the VLDL and LDL.',NULL,NULL,NULL,NULL,NULL),(14156,'UniProt Function',NULL,16935,NULL,'Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of \'Lys-11\'-linked polyubiquitin chains and, to a lower extent, the formation of \'Lys-48\'- and \'Lys-63\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(14157,'UniProt Function',NULL,16936,NULL,'May modulate the internalization of amyloid-beta precursor protein.',NULL,NULL,NULL,NULL,NULL),(14158,'UniProt Function',NULL,16937,NULL,'APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids (PubMed:6860692, PubMed:1911868, PubMed:14754908). APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance (PubMed:6860692, PubMed:2762297, PubMed:1911868, PubMed:1917954, PubMed:9395455, PubMed:14754908, PubMed:23620513). Apoliproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma (PubMed:6860692, PubMed:2762297, PubMed:9395455). As such, APOE associates with chylomicrons, chylomicron remnants, very low density lipoproteins (VLDL) and intermediate density lipoproteins (IDL) but shows a preferential binding to high-density lipoproteins (HDL) (PubMed:6860692, PubMed:1911868). It also binds a wide range of cellular receptors including the LDL receptor/LDLR, the LDL receptor-related proteins LRP1, LRP2 and LRP8 and the very low-density lipoprotein receptor/VLDLR that mediate the cellular uptake of the APOE-containing lipoprotein particles (PubMed:2762297, PubMed:1917954, PubMed:7768901, PubMed:8939961, PubMed:12950167, PubMed:20030366, PubMed:2063194, PubMed:8756331, PubMed:20303980, PubMed:1530612, PubMed:7635945). Finally, APOE has also a heparin-binding activity and binds heparan-sulfate proteoglycans on the surface of cells, a property that supports the capture and the receptor-mediated uptake of APOE-containing lipoproteins by cells (PubMed:9395455, PubMed:9488694, PubMed:23676495, PubMed:7635945). A main function of APOE is to mediate lipoprotein clearance through the uptake of chylomicrons, VLDLs, and HDLs by hepatocytes (PubMed:1911868, PubMed:1917954, PubMed:9395455, PubMed:23676495, PubMed:29516132). APOE is also involved in the biosynthesis by the liver of VLDLs as well as their uptake by peripheral tissues ensuring the delivery of triglycerides and energy storage in muscle, heart and adipose tissues (PubMed:2762297, PubMed:29516132). By participating to the lipoprotein-mediated distribution of lipids among tissues, APOE plays a critical role in plasma and tissues lipid homeostasis (PubMed:2762297, PubMed:1917954, PubMed:29516132). APOE is also involved in two steps of reverse cholesterol transport, the HDLs-mediated transport of cholesterol from peripheral tissues to the liver, and thereby plays an important role in cholesterol homeostasis (PubMed:9395455, PubMed:14754908, PubMed:23620513). First, it is functionally associated with ABCA1 in the biogenesis of HDLs in tissues (PubMed:14754908, PubMed:23620513). Second, it is enriched in circulating HDLs and mediates their uptake by hepatocytes (PubMed:9395455). APOE also plays an important role in lipid transport in the central nervous system, regulating neuron survival and sprouting (PubMed:8939961, PubMed:25173806). APOE in also involved in innate and adaptive immune responses, controlling for instance the survival of myeloid-derived suppressor cells (By similarity). APOE, may also play a role in transcription regulation through a receptor-dependent and cholesterol-independent mechanism, that activates MAP3K12 and a non-canonical MAPK signal transduction pathway that results in enhanced AP-1-mediated transcription of APP (PubMed:28111074).',NULL,NULL,NULL,NULL,NULL),(14159,'UniProt Function',NULL,16938,NULL,'Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.',NULL,NULL,NULL,NULL,NULL),(14160,'UniProt Function',NULL,16939,NULL,'GTP-binding protein involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus.',NULL,NULL,NULL,NULL,NULL),(14161,'UniProt Function',NULL,16939,NULL,'(Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase.',NULL,NULL,NULL,NULL,NULL),(14162,'UniProt Function',NULL,16940,NULL,'Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase.',NULL,NULL,NULL,NULL,NULL),(14163,'UniProt Function',NULL,16941,NULL,'Activates RhoG GTPase by promoting the exchange of GDP by GTP. Required for the formation of membrane ruffles during macropinocytosis. Required for the formation of cup-like structures during trans-endothelial migration of leukocytes. In case of Salmonella enterica infection, activated by SopB, which induces cytoskeleton rearrangements and promotes bacterial entry.',NULL,NULL,NULL,NULL,NULL),(14164,'UniProt Function',NULL,16942,NULL,'Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia (PubMed:20603001). Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation (PubMed:22072986). May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade (PubMed:20207729). Isoform 2 may be required for proper retinal function and organization (By similarity).',NULL,NULL,NULL,NULL,NULL),(14165,'UniProt Function',NULL,16943,NULL,'Guanine nucleotide exchange factor which activates Rho GTPases (PubMed:15601624). Strongly activates RHOA (PubMed:15601624). Also strongly activates RHOB, weakly activates RHOC and RHOG and shows no effect on RHOD, RHOV, RHOQ or RAC1 (By similarity). Involved in regulation of cell shape and actin cytoskeletal organization (PubMed:15601624). Plays a role in actin organization by generating a loss of actin stress fibers and the formation of membrane ruffles and filopodia (PubMed:14662653). Required for SRC-induced podosome formation (By similarity). Involved in positive regulation of immature dendritic cell migration (By similarity).',NULL,NULL,NULL,NULL,NULL),(14166,'UniProt Function',NULL,16944,NULL,'Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen.',NULL,NULL,NULL,NULL,NULL),(14167,'UniProt Function',NULL,16945,NULL,'Adapter protein that plays a role in regulating cell-surface expression of adrenergic receptors and probably also other G protein-coupled receptors (PubMed:20559325, PubMed:21982743, PubMed:23208550). Plays a role in NEDD4-mediated ubiquitination and endocytosis af activated ADRB2 and subsequent ADRB2 degradation (PubMed:20559325, PubMed:23208550). May recruit NEDD4 to ADRB2 (PubMed:20559325). Alternatively, may function as adapter protein that does not play a major role in recruiting NEDD4 to ADRB2, but rather plays a role in a targeting ADRB2 to endosomes (PubMed:23208550).',NULL,NULL,NULL,NULL,NULL),(14168,'UniProt Function',NULL,16946,NULL,'Calcium-binding protein that plays a role in the regulation of numerous cellular processes, such as cell differentiation, cell division, cell proliferation, cell migration, thrombosis, angiogenesis, cardiac hypertrophy and apoptosis. Involved in bone marrow megakaryocyte differentiation by negatively regulating thrombopoietin-mediated signaling pathway. Participates in the endomitotic cell cycle of megakaryocyte, a form of mitosis in which both karyokinesis and cytokinesis are interrupted. Plays a role in integrin signaling by negatively regulating alpha-IIb/beta3 activation in thrombin-stimulated megakaryocytes preventing platelet aggregation. Up-regulates PTK2/FAK1 activity, and is also needed for the recruitment of PTK2/FAK1 to focal adhesions; it thus appears to play an important role in focal adhesion formation. Positively regulates cell migration on fibronectin in a CDC42-dependent manner, the effect being negatively regulated by PAK1. Functions as a negative regulator of stress activated MAP kinase (MAPK) signaling pathways. Down-regulates inositol 1,4,5-trisphosphate receptor-dependent calcium signaling. Involved in sphingosine kinase SPHK1 translocation to the plasma membrane in a N-myristoylation-dependent manner preventing TNF-alpha-induced apoptosis. Regulates serine/threonine-protein kinase PLK3 activity for proper completion of cell division progression. Plays a role in microtubule (MT) dynamics during neuronal development; disrupts the MT depolymerization activity of STMN2 attenuating NGF-induced neurite outgrowth and the MT reorganization at the edge of lamellipodia. Promotes cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway. Stimulates calcineurin PPP3R1 activity by mediating its anchoring to the sarcolemma. In ischemia-induced (pathological or adaptive) angiogenesis, stimulates endothelial cell proliferation, migration and microvessel formation by activating the PAK1 and ERK1/ERK2 signaling pathway. Promotes also cancer cell survival and proliferation. May regulate cell cycle and differentiation of spermatogenic germ cells, and/or differentiation of supporting Sertoli cells.',NULL,NULL,NULL,NULL,NULL),(14169,'UniProt Function',NULL,16946,NULL,'Isoform 2: Plays a regulatory role in angiogenesis and tumor growth by mediating PKD/PRKD2-induced vascular endothelial growth factor A (VEGFA) secretion.',NULL,NULL,NULL,NULL,NULL),(14170,'UniProt Function',NULL,16947,NULL,'Regulates actin polymerization by inhibiting the actin-nucleating activity of the Arp2/3 complex; the function is competetive with nucleation promoting factors. Participates in an incoherent feedforward loop at the lamellipodium tip where it inhibits the ARP2/2 complex in response to Rac signaling and where Rac also stimulates actin polymerization through the WAVE complex. Involved in steering cell migration by controlling its directional persistence.',NULL,NULL,NULL,NULL,NULL),(14171,'UniProt Function',NULL,16948,NULL,'Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly and with HIRA to promote replication-independent chromatin assembly. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit.',NULL,NULL,NULL,NULL,NULL),(14172,'UniProt Function',NULL,16949,NULL,'Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface.',NULL,NULL,NULL,NULL,NULL),(14173,'UniProt Function',NULL,16950,NULL,'Involved in the regulation of melanogenesis. The binding of ASP to MC1R precludes alpha-MSH initiated signaling and thus blocks production of cAMP, leading to a down-regulation of eumelanogenesis (brown/black pigment) and thus increasing synthesis of pheomelanin (yellow/red pigment). In higher primates, agouti may affect the quality of hair pigmentation rather than its pattern of deposition. Could well play a role in neuroendocrine aspects of melanocortin action. May have some functional role in regulating the lipid metabolism with adipocytes.',NULL,NULL,NULL,NULL,NULL),(14174,'UniProt Function',NULL,16951,NULL,'Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates \'Lys-4\' of histone H3, but not if the neighboring \'Lys-9\' residue is already methylated. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at \'Lys-4\' of histone H3. May function as a transcriptional regulator. May play a role in hematopoiesis.',NULL,NULL,NULL,NULL,NULL),(14175,'UniProt Function',NULL,16952,NULL,'Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems to modulate channel properties.',NULL,NULL,NULL,NULL,NULL),(14176,'UniProt Function',NULL,16954,NULL,'Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depend on the association with the katanin complex formed by KATNA1 and KATNB1. Enhances the microtubule lattice severing activity of KATNA1 by recruiting the katanin complex to microtubules. Can block microtubule minus-end growth and reversely this function can be enhanced by the katanin complex (PubMed:28436967). May have a preferential role in regulating neurogenesis.',NULL,NULL,NULL,NULL,NULL),(14177,'UniProt Function',NULL,16963,NULL,'Potent and specific inhibitor of CaM-kinase II (CAMK2).',NULL,NULL,NULL,NULL,NULL),(14178,'UniProt Function',NULL,16964,NULL,'Potent and specific cellular inhibitor of CaM-kinase II (CAMK2). Traps Ca(2+)/calmodulin on CAMK2. May play an important role in the regulation of cell growth when overexpressed in colon adenocarcinoma LoVo cells. Traps Ca(2+)/calmodulin on CAMK2.',NULL,NULL,NULL,NULL,NULL),(14179,'UniProt Function',NULL,16965,NULL,'Specifically inhibits CDK5 activation by CDK5R1.',NULL,NULL,NULL,NULL,NULL),(14180,'UniProt Function',NULL,16966,NULL,'Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regulates centrosomal maturation by recruitment of the gamma-tubulin ring complex (gamma-TuRC) onto centrosomes (PubMed:26485573). In complex with PDE4DIP isoform 13/MMG8/SMYLE, MAPRE1 and AKAP9, contributes to microtubules nucleation and extension from the centrosome to the cell periphery (PubMed:29162697). Required for the recruitment of AKAP9 to centrosomes (PubMed:29162697). Plays a role in neurogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(14181,'UniProt Function',NULL,16967,NULL,'Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Acts as processive microtubule polymerase. Promotes cytoplasmic microtubule nucleation and elongation. Plays a major role in organizing spindle poles. In spindle formation protects kinetochore microtubules from depolymerization by KIF2C and has an essential role in centrosomal microtubule assembly independently of KIF2C activity. Contributes to centrosome integrity. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Enhances the strength of NDC80 complex-mediated kinetochore-tip microtubule attachments (PubMed:27156448).',NULL,NULL,NULL,NULL,NULL),(14182,'UniProt Function',NULL,16971,NULL,'May play an important role in inflammation and regeneration of skeletal muscle. Partly inhibited by interleukin 10.',NULL,NULL,NULL,NULL,NULL),(14183,'UniProt Function',NULL,16971,NULL,'Isoform 1: has chemotactic response in monocytes, neutrophils and lymphocytes (PubMed:11415443). Binds CCR4 (PubMed:16137713).',NULL,NULL,NULL,NULL,NULL),(14184,'UniProt Function',NULL,16972,NULL,'Plays a role in mast cell degranulation.',NULL,NULL,NULL,NULL,NULL),(14185,'UniProt Function',NULL,16979,NULL,'May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion. May help rescuing stalled mitoribosomes during translation (By similarity).',NULL,NULL,NULL,NULL,NULL),(14186,'UniProt Function',NULL,16980,NULL,'As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose.',NULL,NULL,NULL,NULL,NULL),(14187,'UniProt Function',NULL,16984,NULL,'Cell surface receptor that modulates signaling cascades and mediates tyrosine phosphorylation of target MAP kinases.',NULL,NULL,NULL,NULL,NULL),(14188,'UniProt Function',NULL,16985,NULL,'Cell surface receptor that protects target cells against natural killer cell-mediated lysis. Modulates signaling cascades and mediates tyrosine phosphorylation of target MAP kinases.',NULL,NULL,NULL,NULL,NULL),(14189,'UniProt Function',NULL,16986,NULL,'Binds polysaccharidesin a Ca(2+)-independent manner with a preferentially binding to fucoidan, beta-glucans and galactans.',NULL,NULL,NULL,NULL,NULL),(14190,'UniProt Function',NULL,16988,NULL,'Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules (PubMed:26003921). Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2 (PubMed:16824950). This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3-kinase signaling. Also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle (PubMed:16866869, PubMed:16914514). Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex.',NULL,NULL,NULL,NULL,NULL),(14191,'UniProt Function',NULL,16989,NULL,'Probably functions as an alternative splicing regulator. May regulate the mRNA splicing of genes such as CLK1. May act by regulating members of the CLK kinase family (By similarity).',NULL,NULL,NULL,NULL,NULL),(14192,'UniProt Function',NULL,16990,NULL,'Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.',NULL,NULL,NULL,NULL,NULL),(14193,'UniProt Function',NULL,16993,NULL,'Receptor for KLRB1 that protects target cells against natural killer cell-mediated lysis (PubMed:20843815, PubMed:16339513). Inhibits osteoclast formation (PubMed:14753741, PubMed:15123656). Inhibits bone resorption (PubMed:14753741). Modulates the release of interferon-gamma (PubMed:15104121). Binds high molecular weight sulfated glycosaminoglycans (PubMed:15123656).',NULL,NULL,NULL,NULL,NULL),(14194,'UniProt Function',NULL,16995,NULL,'A calcium-dependent lectin involved in innate recognition of pathogen-associated molecular patterns (PAMPs). Interacts with signaling adapter Fc receptor gamma chain/FCER1G, likely via CLEC4E, to form a functional complex in myeloid cells (By similarity). Binding of mycobacterial trehalose 6,6\'-dimycolate (TDM) to this receptor complex leads to phosphorylation of the immunoreceptor tyrosine-based activation motif (ITAM) of FCER1G, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes (PubMed:23602766). Functions as an endocytic receptor. May be involved in antigen uptake at the site of infection, either for clearance of the antigen, or for processing and further presentation to T cells (PubMed:14971047).',NULL,NULL,NULL,NULL,NULL),(14195,'UniProt Function',NULL,16996,NULL,'A calcium-dependent lectin that acts as a pattern recognition receptor of the innate immune system. Recognizes damage-associated molecular patterns (DAMPs) of abnormal self and pathogen-associated molecular patterns (PAMPs) of bacteria and fungi (PubMed:18509109, PubMed:23602766). The PAMPs notably include mycobacterial trehalose 6,6\'-dimycolate (TDM), a cell wall glycolipid with potent adjuvant immunomodulatory functions (PubMed:23602766, PubMed:24101491). Interacts with signaling adapter Fc receptor gamma chain/FCER1G to form a functional complex in myeloid cells. Binding of mycobacterial trehalose 6,6\'-dimycolate (TDM) to this receptor complex leads to phosphorylation of the immunoreceptor tyrosine-based activation motif (ITAM) of FCER1G, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes. Specifically recognizes alpha-mannose residues on pathogenic fungi of the genus Malassezia and mediates macrophage activation. Through recognition of DAMPs released upon nonhomeostatic cell death, enables immune sensing of damaged self and promotes inflammatory cell infiltration into the damaged tissue (By similarity).',NULL,NULL,NULL,NULL,NULL),(14196,'UniProt Function',NULL,16997,NULL,'Binds mannose, N-acetylglucosamine (GlcNAc) and fucose, but not galactose, in a Ca(2+)-dependent manner, in vitro.',NULL,NULL,NULL,NULL,NULL),(14197,'UniProt Function',NULL,16997,NULL,'(Microbial infection) Acts as a receptor for Japanese encephalitis virus.',NULL,NULL,NULL,NULL,NULL),(14198,'UniProt Function',NULL,16997,NULL,'(Microbial infection) Acts as a receptor for Ebolavirus.',NULL,NULL,NULL,NULL,NULL),(14199,'UniProt Function',NULL,16997,NULL,'(Microbial infection) Acts as a receptor for SARS coronavirus/SARS-CoV.',NULL,NULL,NULL,NULL,NULL),(14200,'UniProt Function',NULL,16997,NULL,'(Microbial infection) Acts as a receptor for Lassa virus and Lymphocytic choriomeningitis virus glycoprotein (PubMed:22156524, PubMed:22673088).',NULL,NULL,NULL,NULL,NULL),(14201,'UniProt Function',NULL,16998,NULL,'Functions as a positive regulator of osteoclastogenesis (By similarity). Cell surface receptor that signals via TYROBP (PubMed:10449773). Regulates inflammatory responses (By similarity).',NULL,NULL,NULL,NULL,NULL),(14202,'UniProt Function',NULL,16998,NULL,'(Microbial infection) Critical macrophage receptor for dengue virus serotypes 1-4 (PubMed:18496526, PubMed:21566123). The binding of dengue virus to CLEC5A triggers signaling through the phosphorylation of TYROBP (PubMed:18496526). This interaction does not result in viral entry, but stimulates proinflammatory cytokine release (PubMed:18496526).',NULL,NULL,NULL,NULL,NULL),(14203,'UniProt Function',NULL,16999,NULL,'Lectin that functions as pattern receptor specific for beta-1,3-linked and beta-1,6-linked glucans, such as cell wall constituents from pathogenic bacteria and fungi. Necessary for the TLR2-mediated inflammatory response and for TLR2-mediated activation of NF-kappa-B. Enhances cytokine production in macrophages and dendritic cells. Mediates production of reactive oxygen species in the cell. Mediates phagocytosis of C.albicans conidia. Binds T-cells in a way that does not involve their surface glycans and plays a role in T-cell activation. Stimulates T-cell proliferation (By similarity).',NULL,NULL,NULL,NULL,NULL),(14204,'UniProt Function',NULL,17000,NULL,'May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC.',NULL,NULL,NULL,NULL,NULL),(14205,'UniProt Function',NULL,17002,NULL,'Oocyte-specific oolemmal receptor involved in sperm and egg adhesion and fertilization. Plays a role in the polyspermy inhibition. Probably acts as a protease for the post-fertilization cleavage of ZP2. Cleaves the sperm-binding ZP2 at the surface of the zona pellucida after fertilization and cortical granule exocytosis, rendering the zona pellucida unable to support further sperm binding (By similarity).',NULL,NULL,NULL,NULL,NULL),(14206,'UniProt Function',NULL,17003,NULL,'Clathrin is the major protein of the polyhedral coat of coated pits and vesicles.',NULL,NULL,NULL,NULL,NULL),(14207,'UniProt Function',NULL,17004,NULL,'Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity). May play a role in tumor progression (By similarity).',NULL,NULL,NULL,NULL,NULL),(14208,'UniProt Function',NULL,17005,NULL,'Seems to act as a chloride ion channel.',NULL,NULL,NULL,NULL,NULL),(14209,'UniProt Function',NULL,17006,NULL,'Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms.',NULL,NULL,NULL,NULL,NULL),(14210,'UniProt Function',NULL,17007,NULL,'Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity).',NULL,NULL,NULL,NULL,NULL),(14211,'UniProt Function',NULL,17008,NULL,'This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-3 subunit is not known.',NULL,NULL,NULL,NULL,NULL),(14212,'UniProt Function',NULL,17009,NULL,'P4-ATPase flippase which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes. Involved in acrosome reactions and binding of spermatozoa to zona pellucida.',NULL,NULL,NULL,NULL,NULL),(14213,'UniProt Function',NULL,17010,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14214,'UniProt Function',NULL,17011,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14215,'UniProt Function',NULL,17012,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14216,'UniProt Function',NULL,17015,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14217,'UniProt Function',NULL,17016,NULL,'Specifically acetylates \'Lys-40\' in alpha-tubulin on the lumenal side of microtubules. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. Acetylates alpha-tubulin with a slow enzymatic rate, due to a catalytic site that is not optimized for acetyl transfer. Enters the microtubule through each end and diffuses quickly throughout the lumen of microtubules. Acetylates only long/old microtubules because of its slow acetylation rate since it does not have time to act on dynamically unstable microtubules before the enzyme is released. Required for normal sperm flagellar function. Promotes directional cell locomotion and chemotaxis, through AP2A2-dependent acetylation of alpha-tubulin at clathrin-coated pits that are concentrated at the leading edge of migrating cells. May facilitate primary cilium assembly.',NULL,NULL,NULL,NULL,NULL),(14218,'UniProt Function',NULL,17017,NULL,'Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1-RB1CC1 complex. Through its regulation of ULK1 activity, plays a role in the regulation of the kinase activity of mTORC1 and cell proliferation.',NULL,NULL,NULL,NULL,NULL),(14219,'UniProt Function',NULL,17018,NULL,'May play a role in a mitochondrial network organization typical for stem cells, characterized by reduced mitochondrial metabolism, low mtDNA copies and fragmentated mitochondrial network. may act by suppressing ATAD3A function, interfering with ATAD3A interaction with matrix nucleoid complexes.',NULL,NULL,NULL,NULL,NULL),(14220,'UniProt Function',NULL,17020,NULL,'Transcriptional activator. Binds the cAMP response element (CRE) (consensus: 5\'-GTGACGT[AC][AG]-3\'), a sequence present in many viral and cellular promoters. Cooperates with FOXO1 in osteoblasts to regulate glucose homeostasis through suppression of beta-cell production and decrease in insulin production (By similarity). It binds to a Tax-responsive enhancer element in the long terminal repeat of HTLV-I. Regulates the induction of DDIT3/CHOP and asparagine synthetase (ASNS) in response to endoplasmic reticulum (ER) stress. In concert with DDIT3/CHOP, activates the transcription of TRIB3 and promotes ER stress-induced neuronal apoptosis by regulating the transcriptional induction of BBC3/PUMA. Activates transcription of SIRT4. Regulates the circadian expression of the core clock component PER2 and the serotonin transporter SLC6A4. Binds in a circadian time-dependent manner to the cAMP response elements (CRE) in the SLC6A4 and PER2 promoters and periodically activates the transcription of these genes. During ER stress response, activates the transcription of NLRP1, possibly in concert with other factors (PubMed:26086088).',NULL,NULL,NULL,NULL,NULL),(14221,'UniProt Function',NULL,17021,NULL,'Transmembrane glycoprotein of the endoplasmic reticulum that functions as a transcription activator and initiates the unfolded protein response (UPR) during endoplasmic reticulum stress. Cleaved upon ER stress, the N-terminal processed cyclic AMP-dependent transcription factor ATF-6 alpha translocates to the nucleus where it activates transcription of genes involved in the UPR. Binds DNA on the 5\'-CCAC[GA]-3\'half of the ER stress response element (ERSE) (5\'-CCAAT-N(9)-CCAC[GA]-3\') and of ERSE II (5\'-ATTGG-N-CCACG-3\'). Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor. May play a role in foveal development and cone function in the retina.',NULL,NULL,NULL,NULL,NULL),(14222,'UniProt Function',NULL,17022,NULL,'Plays important functions in early cell signaling. Binds the cAMP response element (CRE) (consensus: 5\'-GTGACGT[AG][AG]-3\'), a sequence present in many viral and cellular promoters. Activator of the NF-ELAM1/delta-A site of the E-selectin promoter. Has no intrinsic transcriptional activity, but activates transcription on formation of JUN or FOS heterodimers. Also can bind TRE promoter sequences when heterodimerized with members of the JUN family.',NULL,NULL,NULL,NULL,NULL),(14223,'UniProt Function',NULL,17022,NULL,'Isoform 4 acts as a dominant repressor of the E-selectin/NF-ELAM1/delta-A promoter.',NULL,NULL,NULL,NULL,NULL),(14224,'UniProt Function',NULL,17022,NULL,'Isoform 5 acts as a negative regulator, inhibiting both ATF2 and ATF7 transcriptional activities. It may exert these effects by sequestrating in the cytoplasm the Thr-53 phosphorylating kinase, preventing activation.',NULL,NULL,NULL,NULL,NULL),(14225,'UniProt Function',NULL,17023,NULL,'Functions during spermatogenesis as a chaperone for a range of client proteins that are important for sperm adhesion onto the egg zona pellucida and for subsequent penetration of the zona pellucida. Required for normal sperm migration from the uterus into the oviduct. Required for normal male fertility. Binds calcium ions (By similarity).',NULL,NULL,NULL,NULL,NULL),(14226,'UniProt Function',NULL,17024,NULL,'Can insert into membranes and form chloride ion channels. May participate in cellular growth control.',NULL,NULL,NULL,NULL,NULL),(14227,'UniProt Function',NULL,17025,NULL,'Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Promotes cell-surface expression of HRH3. Has alternate cellular functions like a potential role in angiogenesis or in maintaining apical-basolateral membrane polarity during mitosis and cytokinesis. Could also promote endothelial cell proliferation and regulate endothelial morphogenesis (tubulogenesis).',NULL,NULL,NULL,NULL,NULL),(14228,'UniProt Function',NULL,17026,NULL,'May insert into membranes and form chloride ion channels. May play a critical role in water-secreting cells, possibly through the regulation of chloride ion transport (By similarity).',NULL,NULL,NULL,NULL,NULL),(14229,'UniProt Function',NULL,17027,NULL,'Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex and may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates: SRSF1, SRSF3 and PTPN1. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells and adenovirus E1A pre-mRNA.',NULL,NULL,NULL,NULL,NULL),(14230,'UniProt Function',NULL,17028,NULL,'Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Acts as a suppressor of hepatic gluconeogenesis and glucose output by repressing PPARGC1A transcriptional activity on gluconeogenic genes via its phosphorylation. Phosphorylates PPP2R5B thereby stimulating the assembly of PP2A phosphatase with the PPP2R5B-AKT1 complex leading to dephosphorylation of AKT1. Phosphorylates: PTPN1, SRSF1 and SRSF3. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells.',NULL,NULL,NULL,NULL,NULL),(14231,'UniProt Function',NULL,17029,NULL,'Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex and may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates SRSF1 and SRSF3. Required for the regulation of alternative splicing of MAPT/TAU. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells.',NULL,NULL,NULL,NULL,NULL),(14232,'UniProt Function',NULL,17030,NULL,'Probably acts as an activating receptor.',NULL,NULL,NULL,NULL,NULL),(14233,'UniProt Function',NULL,17032,NULL,'Inhibitory receptor which may contribute to the down-regulation of cytolytic activity in natural killer (NK) cells, and to the down-regulation of mast cell degranulation (PubMed:10746781, PubMed:16339535, PubMed:9701027). Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 but not TRIF through activation of PTPN6 (PubMed:22043923).',NULL,NULL,NULL,NULL,NULL),(14234,'UniProt Function',NULL,17035,NULL,'Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.',NULL,NULL,NULL,NULL,NULL),(14235,'UniProt Function',NULL,17036,NULL,'Transcription factor involved in the differentiation of retinal ganglion cells.',NULL,NULL,NULL,NULL,NULL),(14236,'UniProt Function',NULL,17037,NULL,'Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity. May play a role in cell-cell interactions.',NULL,NULL,NULL,NULL,NULL),(14237,'UniProt Function',NULL,17038,NULL,'Does not exhibit calcium-activated chloride channel (CaCC) activity.',NULL,NULL,NULL,NULL,NULL),(14238,'UniProt Function',NULL,17039,NULL,'Methylates (mono and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in some proteins.',NULL,NULL,NULL,NULL,NULL),(14239,'UniProt Function',NULL,17040,NULL,'Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta.',NULL,NULL,NULL,NULL,NULL),(14240,'UniProt Function',NULL,17041,NULL,'May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. May enhance the activity of HIF1A in macrophages by inhibiting the activity of HIF1AN.',NULL,NULL,NULL,NULL,NULL),(14241,'UniProt Function',NULL,17042,NULL,'May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism.',NULL,NULL,NULL,NULL,NULL),(14242,'UniProt Function',NULL,17043,NULL,'DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15380105, PubMed:15044383, PubMed:16964241, PubMed:17276982, PubMed:24362567). Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species (PubMed:16964241, PubMed:24362567). Catalyzes the release of adenylate groups covalently linked to 5\'-phosphate termini, resulting in the production of 5\'-phosphate termini that can be efficiently rejoined (PubMed:16964241, PubMed:17276982, PubMed:24362567). Also able to hydrolyze adenosine 5\'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity (PubMed:16547001). Likewise, catalyzes the release of 3\'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5\'-linked adenosine (AppDNA) (By similarity).',NULL,NULL,NULL,NULL,NULL),(14243,'UniProt Function',NULL,17044,NULL,'Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism.',NULL,NULL,NULL,NULL,NULL),(14244,'UniProt Function',NULL,17045,NULL,'Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Selectively binds to phosphatidylinositol 3,5-bisphosphate PtdIns(3,5)P2 and PtdIns(3,4)P2 in preference to other phosphoinositides tested. Involved in late stages of cytokinesis. Plays a role in endosomal sorting/trafficking of EGF receptor. Isoform 2 prevents stress-mediated cell death and accumulation of reactive oxygen species when expressed in yeast cells.',NULL,NULL,NULL,NULL,NULL),(14245,'UniProt Function',NULL,17046,NULL,'Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N-acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N-acetylgalactosaminyltransferase activity.',NULL,NULL,NULL,NULL,NULL),(14246,'UniProt Function',NULL,17047,NULL,'Forms a complex with DNA polymerase epsilon subunit POLE3 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome remodeling activity of ISWI/SNF2H and ACF1.',NULL,NULL,NULL,NULL,NULL),(14247,'UniProt Function',NULL,17048,NULL,'Histone methyltransferase specifically methylating \'Lys-36\' of histone H3 (H3K36me).',NULL,NULL,NULL,NULL,NULL),(14248,'UniProt Function',NULL,17049,NULL,'Isoform 2 and isoform 3 function as proton-gated sodium channels; they are activated by a drop of the extracellular pH and then become rapidly desensitized. The channel generates a biphasic current with a fast inactivating and a slow sustained phase. Has high selectivity for sodium ions and can also transport lithium ions with high efficiency. Isoform 2 can also transport potassium, but with lower efficiency. It is nearly impermeable to the larger rubidium and cesium ions. Isoform 3 can also transport calcium ions. Mediates glutamate-independent Ca(2+) entry into neurons upon acidosis. This Ca(2+) overloading is toxic for cortical neurons and may be in part responsible for ischemic brain injury. Heteromeric channel assembly seems to modulate channel properties. Functions as a postsynaptic proton receptor that influences intracellular Ca(2+) concentration and calmodulin-dependent protein kinase II phosphorylation and thereby the density of dendritic spines. Modulates activity in the circuits underlying innate fear.',NULL,NULL,NULL,NULL,NULL),(14249,'UniProt Function',NULL,17049,NULL,'Isoform 1 does not display proton-gated cation channel activity.',NULL,NULL,NULL,NULL,NULL),(14250,'UniProt Function',NULL,17050,NULL,'Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate.',NULL,NULL,NULL,NULL,NULL),(14251,'UniProt Function',NULL,17051,NULL,'Converts sphingomyelin to ceramide (PubMed:1840600, PubMed:18815062, PubMed:27659707, PubMed:25920558). Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol.',NULL,NULL,NULL,NULL,NULL),(14252,'UniProt Function',NULL,17051,NULL,'Isoform 2 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity.',NULL,NULL,NULL,NULL,NULL),(14253,'UniProt Function',NULL,17051,NULL,'Isoform 3 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity.',NULL,NULL,NULL,NULL,NULL),(14254,'UniProt Function',NULL,17052,NULL,'May modulate splice site selection during alternative splicing of pre-mRNAs (By similarity). Regulates transcription and acts as corepressor for RBPJ. Recruits RBPJ to the Sin3-histone deacetylase complex (HDAC). Required for RBPJ-mediated repression of transcription.',NULL,NULL,NULL,NULL,NULL),(14255,'UniProt Function',NULL,17053,NULL,'Cold-inducible mRNA binding protein that plays a protective role in the genotoxic stress response by stabilizing transcripts of genes involved in cell survival. Acts as a translational activator. Seems to play an essential role in cold-induced suppression of cell proliferation. Binds specifically to the 3\'-untranslated regions (3\'-UTRs) of stress-responsive transcripts RPA2 and TXN. Acts as a translational repressor (By similarity). Promotes assembly of stress granules (SGs), when overexpressed.',NULL,NULL,NULL,NULL,NULL),(14256,'UniProt Function',NULL,17054,NULL,'Plays a key role in regulating maximal capacity for electron transport and oxidative phosphorylation (By similarity). May be involved in Fe-S cluster shuttling and/or in redox reactions.',NULL,NULL,NULL,NULL,NULL),(14257,'UniProt Function',NULL,17056,NULL,'SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. CIS is involved in the negative regulation of cytokines that signal through the JAK-STAT5 pathway such as erythropoietin, prolactin and interleukin 3 (IL3) receptor. Inhibits STAT5 trans-activation by suppressing its tyrosine phosphorylation. May be a substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(14258,'UniProt Function',NULL,17059,NULL,'May function as 2-oxoglutarate-dependent dioxygenase.',NULL,NULL,NULL,NULL,NULL),(14259,'UniProt Function',NULL,17061,NULL,'Negatively regulates periodontal ligament (PDL) differentiation and mineralization to ensure that the PDL is not ossified and to maintain homeostasis of the tooth-supporting system. Inhibits BMP2-induced cytodifferentiation of PDL cells by preventing its binding to BMPR1B/BMP type-1B receptor, resulting in inhibition of BMP-dependent activation of SMAD proteins (By similarity). Critical regulator of TGF-beta in articular cartilage and plays an essential role in cartilage homeostasis and osteoarthritis (OA) pathogenesis. Negatively regulates chondrogenesis in the articular cartilage by blocking the TGF-beta/receptor interaction on the cell surface and inhibiting the canonical TGF-beta/Smad signal. Binds calcium and plays a role in osteoblast-driven collagen biomineralization activity.',NULL,NULL,NULL,NULL,NULL),(14260,'UniProt Function',NULL,17062,NULL,'May regulate the subcellular localization of CIP/WAF1.',NULL,NULL,NULL,NULL,NULL),(14261,'UniProt Function',NULL,17065,NULL,'Tumor suppressor that is required to sustain G2/M checkpoint after DNA damage. Acts as a p53/TP53 activator by inhibiting MDM2 binding to p53/TP53 and stimulating non-proteolytic polyubiquitination of p53/TP53. Exhibits ubiquitin ligase (E3) activity and assemble ubiquitin polymers through \'Lys-11\'- (K11-), \'Lys-29\'- (K29-) and \'Lys-63\'- (K63)-linkages, independently of the ubiquitin-conjugating enzyme (E2). Promotes p53/TP53-dependent transcription of CDKN1A/p21, leading to robust checkpoint response. Mediates CDKN1A/p21 protein stability in a ubiquitin-independent manner. Interacts with HDAC1 and prevents binding of HDAC1 to CDKN1A/p21 and facilitates the acetylation and stabilization of CDKN1A/p21 (By similarity). May have a role in the assembly of primary cilia (Probable).',NULL,NULL,NULL,NULL,NULL),(14262,'UniProt Function',NULL,17075,NULL,'One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.',NULL,NULL,NULL,NULL,NULL),(14263,'UniProt Function',NULL,17078,NULL,'Possesses microtubule stabilizing properties. Involved in regulating aneuploidy, cell cycling, and cell death in a p53/TP53-dependent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(14264,'UniProt Function',NULL,17079,NULL,'High-affinity epithelial cell surface receptor for APF.',NULL,NULL,NULL,NULL,NULL),(14265,'UniProt Function',NULL,17079,NULL,'Mediates the anchoring of the endoplasmic reticulum to microtubules.',NULL,NULL,NULL,NULL,NULL),(14266,'UniProt Function',NULL,17081,NULL,'Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PRKN pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteosomal degradation, RNF41/NRDP1 which regulates proteosomal degradation of PRKN. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health.',NULL,NULL,NULL,NULL,NULL),(14267,'UniProt Function',NULL,17082,NULL,'Cell surface receptor which may be involved in carbohydrate-mediated communication between cells in the germinal center. Binds glycans with terminal alpha-linked mannose or fucose residues.',NULL,NULL,NULL,NULL,NULL),(14268,'UniProt Function',NULL,17084,NULL,'Chemotactic for lymphocytes and monocytes. Is a ligand for CCR1, CCR3 and CCR5. Is an inhibitor of HIV-1-infection. The processed form LD78-beta(3-70) shows a 20-fold to 30-fold higher chemotactic activity and is a very potent inhibitor of HIV-1-infection. LD78-beta(3-70) is also a ligand for CCR1, CCR3 and CCR5.',NULL,NULL,NULL,NULL,NULL),(14269,'UniProt Function',NULL,17085,NULL,'C-type lectin-like receptor that functions as a platelet receptor for the lymphatic endothelial marker, PDPN (PubMed:18215137). After ligand activation, signals via sequential activation of SRC and SYK tyrosine kinases leading to activation of PLCG2 (PubMed:18955485).',NULL,NULL,NULL,NULL,NULL),(14270,'UniProt Function',NULL,17085,NULL,'(Microbial infection) Acts as a receptor for the platelet-aggregating snake venom protein rhodocytin. Rhodocytin binding leads to tyrosine phosphorylation and this promotes the binding of spleen tyrosine kinase (SYK) and initiation of downstream tyrosine phosphorylation events and activation of PLCG2 (PubMed:16174766, PubMed:18955485).',NULL,NULL,NULL,NULL,NULL),(14271,'UniProt Function',NULL,17085,NULL,'(Microbial infection) Acts as an attachment factor for Human immunodeficiency virus type 1 (HIV-1) and facilitates its capture by platelets (PubMed:16940507).',NULL,NULL,NULL,NULL,NULL),(14272,'UniProt Function',NULL,17086,NULL,'Promotes cell adhesion to laminin-332 and fibronectin.',NULL,NULL,NULL,NULL,NULL),(14273,'UniProt Function',NULL,17087,NULL,'C-type lectin receptor that binds carbohydrates mannose and fucose but also weakly interacts with N-acetylglucosamine (GlcNAc) in a Ca(2+)-dependent manner (PubMed:27015765). Involved in regulating immune reactivity (PubMed:18258799, PubMed:10438934). Once triggered by antigen, it is internalized by clathrin-dependent endocytosis and delivers its antigenic cargo into the antigen presentation pathway resulting in cross-priming of CD8(+) T cells. This cross-presentation and cross-priming are enhanced by TLR7 and TLR8 agonists with increased expansion of the CD8(+) T cells, high production of IFNG and TNF with reduced levels of IL4, IL5 and IL13 (PubMed:18258799, PubMed:20530286). In plasmacytoid dendritic cells, inhibits TLR9-mediated IFNA and TNF production (PubMed:18258799). May be involved via its ITIM motif (immunoreceptor tyrosine-based inhibitory motifs) in the inhibition of B-cell-receptor-mediated calcium mobilization and protein tyrosine phosphorylation (PubMed:10438934).',NULL,NULL,NULL,NULL,NULL),(14274,'UniProt Function',NULL,17087,NULL,'(Microbial infection) Involved in the interaction between HIV-1 virus and dendritic cells. Enhances HIV-1 binding/entry and virus infection. Requires ITIM motif-associated signal transduction pathway involving phosphatases PTPN6 and PTPN11, SYK, Src kinases and MAP kinases.',NULL,NULL,NULL,NULL,NULL),(14275,'UniProt Function',NULL,17088,NULL,'Lectin-type cell surface receptor which may play a role in antigen capturing by dendritic cells (PubMed:11748283, PubMed:21880719, PubMed:25995448). Specifically recognizes non-sialylated galactose-terminated biantennary glycans containing the trisaccharide epitope Gal(beta1-3/4)GlcNAc(beta1-2)Man (PubMed:21880719, PubMed:25995448). Binds to serum IgG (PubMed:25995448). Efficiently targets ligand into antigen-processing and peptide-loading compartments for presentation to T-cells (PubMed:11748283). May mediate potent inhibition of induction of IFN-alpha/beta expression in plasmacytoid dendritic cells (PubMed:11748283, PubMed:21880719). May act as a signaling receptor that activates protein-tyrosine kinases and mobilizes intracellular calcium (PubMed:11748283).',NULL,NULL,NULL,NULL,NULL),(14276,'UniProt Function',NULL,17089,NULL,'Probable pathogen-recognition receptor involved in peripheral immune surveillance in liver. May mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. Is a receptor for ICAM3, probably by binding to mannose-like carbohydrates.',NULL,NULL,NULL,NULL,NULL),(14277,'UniProt Function',NULL,17089,NULL,'(Microbial infection) Acts as an attachment receptor for Ebolavirus.',NULL,NULL,NULL,NULL,NULL),(14278,'UniProt Function',NULL,17089,NULL,'(Microbial infection) Acts as an attachment receptor for Hepatitis C virus.',NULL,NULL,NULL,NULL,NULL),(14279,'UniProt Function',NULL,17089,NULL,'(Microbial infection) Acts as an attachment receptor for HIV-1.',NULL,NULL,NULL,NULL,NULL),(14280,'UniProt Function',NULL,17089,NULL,'(Microbial infection) Acts as an attachment receptor for Human coronavirus 229E.',NULL,NULL,NULL,NULL,NULL),(14281,'UniProt Function',NULL,17089,NULL,'(Microbial infection) Acts as an attachment receptor for Human cytomegalovirus/HHV-5.',NULL,NULL,NULL,NULL,NULL),(14282,'UniProt Function',NULL,17089,NULL,'(Microbial infection) Acts as an attachment receptor for Influenzavirus.',NULL,NULL,NULL,NULL,NULL),(14283,'UniProt Function',NULL,17089,NULL,'(Microbial infection) Acts as an attachment receptor for SARS coronavirus.',NULL,NULL,NULL,NULL,NULL),(14284,'UniProt Function',NULL,17089,NULL,'(Microbial infection) Acts as an attachment receptor for West-nile virus.',NULL,NULL,NULL,NULL,NULL),(14285,'UniProt Function',NULL,17089,NULL,'(Microbial infection) Acts as an attachment receptor for Japanese encephalitis virus.',NULL,NULL,NULL,NULL,NULL),(14286,'UniProt Function',NULL,17089,NULL,'(Microbial infection) Acts as an attachment receptor for Marburg virus glycoprotein.',NULL,NULL,NULL,NULL,NULL),(14287,'UniProt Function',NULL,17089,NULL,'(Microbial infection) Recognition of M.bovis by dendritic cells may occur partially via this molecule.',NULL,NULL,NULL,NULL,NULL),(14288,'UniProt Function',NULL,17090,NULL,'Functions as an endocytic receptor on a small subset of myeloid cells specialized for the uptake and processing of material from dead cells. Recognizes filamentous form of actin in association with particular actin-binding domains of cytoskeletal proteins, including spectrin, exposed when cell membranes are damaged, and mediate the cross-presentation of dead-cell associated antigens in a Syk-dependent manner.',NULL,NULL,NULL,NULL,NULL),(14289,'UniProt Function',NULL,17092,NULL,'May be involved in mediating calcium-activated chloride conductance.',NULL,NULL,NULL,NULL,NULL),(14290,'UniProt Function',NULL,17093,NULL,'Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with pi-bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the pachytene stage to facilitate the production of multiple types of piRNAs, including those associated with repeats involved in the regulation of retrotransposons. May act by mediating protein-protein interactions during germ cell maturation (By similarity).',NULL,NULL,NULL,NULL,NULL),(14291,'UniProt Function',NULL,17094,NULL,'Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons. Promotes ASTN1 internalization and intracellular transport of endocytosed ASTN1 (By similarity). Selectively binds inositol-4,5-bisphosphate, inositol-3,4,5-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, suggesting it is recruited to membranes that contain lipids with a phosphoinositide headgroup (Ref.6).',NULL,NULL,NULL,NULL,NULL),(14292,'UniProt Function',NULL,17095,NULL,'Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable).',NULL,NULL,NULL,NULL,NULL),(14293,'UniProt Function',NULL,17096,NULL,'Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). May be involved in the uptake of farnesyltransferase inhibitor drugs, such as lonafarnib.',NULL,NULL,NULL,NULL,NULL),(14294,'UniProt Function',NULL,17098,NULL,'Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis.',NULL,NULL,NULL,NULL,NULL),(14295,'UniProt Function',NULL,17100,NULL,'May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit.',NULL,NULL,NULL,NULL,NULL),(14296,'UniProt Function',NULL,17101,NULL,'This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.',NULL,NULL,NULL,NULL,NULL),(14297,'UniProt Function',NULL,17102,NULL,'Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.',NULL,NULL,NULL,NULL,NULL),(14298,'UniProt Function',NULL,17103,NULL,'This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(14299,'UniProt Function',NULL,17103,NULL,'Involved in cell adhesion and establishing epithelial cell polarity.',NULL,NULL,NULL,NULL,NULL),(14300,'UniProt Function',NULL,17105,NULL,'This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.',NULL,NULL,NULL,NULL,NULL),(14301,'UniProt Function',NULL,17106,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Involved in paracellular magnesium reabsorption. Required for a selective paracellular conductance. May form, alone or in partnership with other constituents, an intercellular pore permitting paracellular passage of magnesium and calcium ions down their electrochemical gradients. Alternatively, it could be a sensor of magnesium concentration that could alter paracellular permeability mediated by other factors.',NULL,NULL,NULL,NULL,NULL),(14302,'UniProt Function',NULL,17107,NULL,'Involved in DNA damage response. Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages-induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(14303,'UniProt Function',NULL,17108,NULL,'This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium.',NULL,NULL,NULL,NULL,NULL),(14304,'UniProt Function',NULL,17109,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14305,'UniProt Function',NULL,17110,NULL,'Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14306,'UniProt Function',NULL,17111,NULL,'This protein binds the cAMP response element (CRE) (consensus: 5\'-GTGACGT[AC][AG]-3\'), a sequence present in many viral and cellular promoters. Binds to the Tax-responsive element (TRE) of HTLV-I. Mediates PKA-induced stimulation of CRE-reporter genes. Represses the expression of FTH1 and other antioxidant detoxification genes. Triggers cell proliferation and transformation.',NULL,NULL,NULL,NULL,NULL),(14307,'UniProt Function',NULL,17112,NULL,'Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites.',NULL,NULL,NULL,NULL,NULL),(14308,'UniProt Function',NULL,17113,NULL,'Tight-junction protein required for paracellular chloride transport in the kidney. Mediates recruitment of CLDN4 to tight junction in the kidney. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.',NULL,NULL,NULL,NULL,NULL),(14309,'UniProt Function',NULL,17115,NULL,'Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important role in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis.',NULL,NULL,NULL,NULL,NULL),(14310,'UniProt Function',NULL,17116,NULL,'Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes.',NULL,NULL,NULL,NULL,NULL),(14311,'UniProt Function',NULL,17116,NULL,'(Microbial infection) May act as a proviral factor. In association with ATG5, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for the initiation of HCV replication, but not required once infection is established (PubMed:19666601).',NULL,NULL,NULL,NULL,NULL),(14312,'UniProt Function',NULL,17117,NULL,'Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Does not arginylate cysteine residues (By similarity).',NULL,NULL,NULL,NULL,NULL),(14313,'UniProt Function',NULL,17118,NULL,'Trans-Golgi-associated GTPase that regulates protein sorting. Controls the targeting of ARL1 and its effector to the trans-Golgi. Required for the lipidation of chylomicrons in the intestine and required for VLDL lipidation in the liver.',NULL,NULL,NULL,NULL,NULL),(14314,'UniProt Function',NULL,17119,NULL,'May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13.',NULL,NULL,NULL,NULL,NULL),(14315,'UniProt Function',NULL,17120,NULL,'E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3 (PubMed:16118314, PubMed:17646546, PubMed:19340006, PubMed:24076655). Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-5-RING ubiquitin ligase complex (ECS complex, also named CRL5 complex) and initiating ubiquitination of ECS substrates: associates with ECS complex and specifically mediates addition of the first ubiquitin on ECS targets (By similarity). The initial ubiquitin is then elongated (By similarity). E3 ubiquitin-protein ligase activity is activated upon binding to neddylated form of the ECS complex (PubMed:24076655). Mediates \'Lys-6\', \'Lys-48\'-and \'Lys-63\'-linked polyubiquitination (PubMed:16118314, PubMed:17646546, PubMed:19340006). May play a role in myelopoiesis (PubMed:19340006).',NULL,NULL,NULL,NULL,NULL),(14316,'UniProt Function',NULL,17121,NULL,'Transcription factor which may be involved in the control of cell cycle progression by the RB1/E2F1 pathway and in B-cell differentiation.',NULL,NULL,NULL,NULL,NULL),(14317,'UniProt Function',NULL,17122,NULL,'DNA-binding protein which modulates activity of several transcription factors including RB1 (retinoblastoma-associated protein) and AR (androgen receptor) (By similarity). May function as part of an mSin3A repressor complex (PubMed:14581478). Has no intrinsic transcriptional activity (By similarity). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4B (By similarity). Involved in spermatogenesis, together with ARID4B, where it acts as a transcriptional coactivator for AR and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier (By similarity). Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity).',NULL,NULL,NULL,NULL,NULL),(14318,'UniProt Function',NULL,17124,NULL,'Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Isoform 2 may facilitate PRKN transport into the mitochondria. In collaboration with PRKN, isoform 2 may enhance cell viability and protect cells from oxidative stress.',NULL,NULL,NULL,NULL,NULL),(14319,'UniProt Function',NULL,17125,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of galactose (Gal) residues of keratan. Has a preference for sulfating keratan sulfate, but it also transfers sulfate to the unsulfated polymer. The sulfotransferase activity on sialyl LacNAc structures is much higher than the corresponding desialylated substrate, and only internal Gal residues are sulfated. May function in the sulfation of sialyl N-acetyllactosamine oligosaccharide chains attached to glycoproteins. Participates in biosynthesis of selectin ligands. Selectin ligands are present in high endothelial cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation.',NULL,NULL,NULL,NULL,NULL),(14320,'UniProt Function',NULL,17126,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on the non-reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N-acetyllactosamine structures.',NULL,NULL,NULL,NULL,NULL),(14321,'UniProt Function',NULL,17127,NULL,'Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues in desulfated dermatan sulfate. Preferentially sulfates in GlcA->GalNAc unit than in IdoA->GalNAc unit. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor.',NULL,NULL,NULL,NULL,NULL),(14322,'UniProt Function',NULL,17128,NULL,'Direct regulator of SIRT1. Enhances SIRT1-mediated deacetylation of p53/TP53, thereby participating in inhibition of p53/TP53-mediated transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(14323,'UniProt Function',NULL,17130,NULL,'Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-62 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase. May indirectly enhance GAP-43 expression.',NULL,NULL,NULL,NULL,NULL),(14324,'UniProt Function',NULL,17131,NULL,'ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9000076). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9000076). Seems to contact the pointed end of the daughter actin filament (PubMed:9000076). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:17220302, PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). Plays a role in ciliogenesis (PubMed:20393563).',NULL,NULL,NULL,NULL,NULL),(14325,'UniProt Function',NULL,17133,NULL,'Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). Seems to contact the mother actin filament (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).',NULL,NULL,NULL,NULL,NULL),(14326,'UniProt Function',NULL,17135,NULL,'Functions in regulating agonist-mediated G-protein coupled receptor (GPCR) signaling by mediating both receptor desensitization and resensitization processes. During homologous desensitization, beta-arrestins bind to the GPRK-phosphorylated receptor and sterically preclude its coupling to the cognate G-protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalization by acting as endocytic adapters (CLASPs, clathrin-associated sorting proteins) and recruiting the GPRCs to the adapter protein 2 complex 2 (AP-2) in clathrin-coated pits (CCPs). However, the extent of beta-arrestin involvement appears to vary significantly depending on the receptor, agonist and cell type. Internalized arrestin-receptor complexes traffic to intracellular endosomes, where they remain uncoupled from G-proteins. Two different modes of arrestin-mediated internalization occur. Class A receptors, like ADRB2, OPRM1, ENDRA, D1AR and ADRA1B dissociate from beta-arrestin at or near the plasma membrane and undergo rapid recycling. Class B receptors, like AVPR2, AGTR1, NTSR1, TRHR and TACR1 internalize as a complex with arrestin and traffic with it to endosomal vesicles, presumably as desensitized receptors, for extended periods of time. Receptor resensitization then requires that receptor-bound arrestin is removed so that the receptor can be dephosphorylated and returned to the plasma membrane. Involved in internalization of P2RY4 and UTP-stimulated internalization of P2RY2. Involved in phosphorylation-dependent internalization of OPRD1 ands subsequent recycling. Involved in the degradation of cAMP by recruiting cAMP phosphodiesterases to ligand-activated receptors. Beta-arrestins function as multivalent adapter proteins that can switch the GPCR from a G-protein signaling mode that transmits short-lived signals from the plasma membrane via small molecule second messengers and ion channels to a beta-arrestin signaling mode that transmits a distinct set of signals that are initiated as the receptor internalizes and transits the intracellular compartment. Acts as signaling scaffold for MAPK pathways such as MAPK1/3 (ERK1/2). ERK1/2 activated by the beta-arrestin scaffold is largely excluded from the nucleus and confined to cytoplasmic locations such as endocytic vesicles, also called beta-arrestin signalosomes. Recruits c-Src/SRC to ADRB2 resulting in ERK activation. GPCRs for which the beta-arrestin-mediated signaling relies on both ARRB1 and ARRB2 (codependent regulation) include ADRB2, F2RL1 and PTH1R. For some GPCRs the beta-arrestin-mediated signaling relies on either ARRB1 or ARRB2 and is inhibited by the other respective beta-arrestin form (reciprocal regulation). Inhibits ERK1/2 signaling in AGTR1- and AVPR2-mediated activation (reciprocal regulation). Is required for SP-stimulated endocytosis of NK1R and recruits c-Src/SRC to internalized NK1R resulting in ERK1/2 activation, which is required for the antiapoptotic effects of SP. Is involved in proteinase-activated F2RL1-mediated ERK activity. Acts as signaling scaffold for the AKT1 pathway. Is involved in alpha-thrombin-stimulated AKT1 signaling. Is involved in IGF1-stimulated AKT1 signaling leading to increased protection from apoptosis. Involved in activation of the p38 MAPK signaling pathway and in actin bundle formation. Involved in F2RL1-mediated cytoskeletal rearrangement and chemotaxis. Involved in AGTR1-mediated stress fiber formation by acting together with GNAQ to activate RHOA. Appears to function as signaling scaffold involved in regulation of MIP-1-beta-stimulated CCR5-dependent chemotaxis. Involved in attenuation of NF-kappa-B-dependent transcription in response to GPCR or cytokine stimulation by interacting with and stabilizing CHUK. May serve as nuclear messenger for GPCRs. Involved in OPRD1-stimulated transcriptional regulation by translocating to CDKN1B and FOS promoter regions and recruiting EP300 resulting in acetylation of histone H4. Involved in regulation of LEF1 transcriptional activity via interaction with DVL1 and/or DVL2 Also involved in regulation of receptors other than GPCRs. Involved in Toll-like receptor and IL-1 receptor signaling through the interaction with TRAF6 which prevents TRAF6 autoubiquitination and oligomerization required for activation of NF-kappa-B and JUN. Binds phosphoinositides. Binds inositolhexakisphosphate (InsP6) (By similarity). Involved in IL8-mediated granule release in neutrophils. Required for atypical chemokine receptor ACKR2-induced RAC1-LIMK1-PAK1-dependent phosphorylation of cofilin (CFL1) and for the up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. Involved in the internalization of the atypical chemokine receptor ACKR3. Negatively regulates the NOTCH signaling pathway by mediating the ubiquitination and degradation of NOTCH1 by ITCH. Participates to the recruitment of the ubiquitin-protein ligase to the receptor (PubMed:23886940).',NULL,NULL,NULL,NULL,NULL),(14327,'UniProt Function',NULL,17136,NULL,'Transcriptional repressor which forms a negative regulatory component of the circadian clock and acts independently of the circadian transcriptional repressors: CRY1, CRY2 and BHLHE41. In a histone deacetylase-dependent manner represses the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Abrogates the interaction of ARNTL/BMAL1 with the transcriptional coactivator CREBBP and can repress the histone acetyl-transferase activity of the CLOCK-ARNTL/BMAL1 heterodimer, reducing histone acetylation of its target genes. Rhythmically binds the E-box elements (5\'-CACGTG-3\') on circadian gene promoters and its occupancy shows circadian oscillation antiphasic to ARNTL/BMAL1. Interacts with the glucocorticoid receptor (NR3C1) and contributes to the repressive function in the glucocorticoid response (By similarity).',NULL,NULL,NULL,NULL,NULL),(14328,'UniProt Function',NULL,17137,NULL,'Functions in regulating agonist-mediated G-protein coupled receptor (GPCR) signaling by mediating both receptor desensitization and resensitization processes. During homologous desensitization, beta-arrestins bind to the GPRK-phosphorylated receptor and sterically preclude its coupling to the cognate G-protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalization by acting as endocytic adapters (CLASPs, clathrin-associated sorting proteins) and recruiting the GPRCs to the adapter protein 2 complex 2 (AP-2) in clathrin-coated pits (CCPs). However, the extent of beta-arrestin involvement appears to vary significantly depending on the receptor, agonist and cell type. Internalized arrestin-receptor complexes traffic to intracellular endosomes, where they remain uncoupled from G-proteins. Two different modes of arrestin-mediated internalization occur. Class A receptors, like ADRB2, OPRM1, ENDRA, D1AR and ADRA1B dissociate from beta-arrestin at or near the plasma membrane and undergo rapid recycling. Class B receptors, like AVPR2, AGTR1, NTSR1, TRHR and TACR1 internalize as a complex with arrestin and traffic with it to endosomal vesicles, presumably as desensitized receptors, for extended periods of time. Receptor resensitization then requires that receptor-bound arrestin is removed so that the receptor can be dephosphorylated and returned to the plasma membrane. Mediates endocytosis of CCR7 following ligation of CCL19 but not CCL21. Involved in internalization of P2RY1, P2RY4, P2RY6 and P2RY11 and ATP-stimulated internalization of P2RY2. Involved in phosphorylation-dependent internalization of OPRD1 and subsequent recycling or degradation. Involved in ubiquitination of IGF1R. Beta-arrestins function as multivalent adapter proteins that can switch the GPCR from a G-protein signaling mode that transmits short-lived signals from the plasma membrane via small molecule second messengers and ion channels to a beta-arrestin signaling mode that transmits a distinct set of signals that are initiated as the receptor internalizes and transits the intracellular compartment. Acts as signaling scaffold for MAPK pathways such as MAPK1/3 (ERK1/2) and MAPK10 (JNK3). ERK1/2 and JNK3 activated by the beta-arrestin scaffold are largely excluded from the nucleus and confined to cytoplasmic locations such as endocytic vesicles, also called beta-arrestin signalosomes. Acts as signaling scaffold for the AKT1 pathway. GPCRs for which the beta-arrestin-mediated signaling relies on both ARRB1 and ARRB2 (codependent regulation) include ADRB2, F2RL1 and PTH1R. For some GPCRs the beta-arrestin-mediated signaling relies on either ARRB1 or ARRB2 and is inhibited by the other respective beta-arrestin form (reciprocal regulation). Increases ERK1/2 signaling in AGTR1- and AVPR2-mediated activation (reciprocal regulation). Involved in CCR7-mediated ERK1/2 signaling involving ligand CCL19. Is involved in type-1A angiotensin II receptor/AGTR1-mediated ERK activity. Is involved in type-1A angiotensin II receptor/AGTR1-mediated MAPK10 activity. Is involved in dopamine-stimulated AKT1 activity in the striatum by disrupting the association of AKT1 with its negative regulator PP2A. Involved in AGTR1-mediated chemotaxis. Appears to function as signaling scaffold involved in regulation of MIP-1-beta-stimulated CCR5-dependent chemotaxis. Involved in attenuation of NF-kappa-B-dependent transcription in response to GPCR or cytokine stimulation by interacting with and stabilizing CHUK. Suppresses UV-induced NF-kappa-B-dependent activation by interacting with CHUK. The function is promoted by stimulation of ADRB2 and dephosphorylation of ARRB2. Involved in p53/TP53-mediated apoptosis by regulating MDM2 and reducing the MDM2-mediated degradation of p53/TP53. May serve as nuclear messenger for GPCRs. Upon stimulation of OR1D2, may be involved in regulation of gene expression during the early processes of fertilization. Also involved in regulation of receptors other than GPCRs. Involved in endocytosis of TGFBR2 and TGFBR3 and down-regulates TGF-beta signaling such as NF-kappa-B activation. Involved in endocytosis of low-density lipoprotein receptor/LDLR. Involved in endocytosis of smoothened homolog/Smo, which also requires GRK2. Involved in endocytosis of SLC9A5. Involved in endocytosis of ENG and subsequent TGF-beta-mediated ERK activation and migration of epithelial cells. Involved in Toll-like receptor and IL-1 receptor signaling through the interaction with TRAF6 which prevents TRAF6 autoubiquitination and oligomerization required for activation of NF-kappa-B and JUN. Involved in insulin resistance by acting as insulin-induced signaling scaffold for SRC, AKT1 and INSR. Involved in regulation of inhibitory signaling of natural killer cells by recruiting PTPN6 and PTPN11 to KIR2DL1. Involved in IL8-mediated granule release in neutrophils. Involved in the internalization of the atypical chemokine receptor ACKR3.',NULL,NULL,NULL,NULL,NULL),(14329,'UniProt Function',NULL,17138,NULL,'Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity).',NULL,NULL,NULL,NULL,NULL),(14330,'UniProt Function',NULL,17139,NULL,'May play a role in an as yet undefined retina-specific signal transduction. Could binds to photoactivated-phosphorylated red/green opsins.',NULL,NULL,NULL,NULL,NULL),(14331,'UniProt Function',NULL,17140,NULL,'Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development.',NULL,NULL,NULL,NULL,NULL),(14332,'UniProt Function',NULL,17143,NULL,'Displays arylsulfatase activity at acidic pH with pseudosubstrates, such as p-nitrocatechol sulfate and also, but with lower activity, p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate.',NULL,NULL,NULL,NULL,NULL),(14333,'UniProt Function',NULL,17146,NULL,'Could be involved in the activation of both NF-kappa-B via a NF-kappa-B inhibitor kinase (IKK)-dependent mechanism and stress-activated protein kinase (SAPK)/JNK.',NULL,NULL,NULL,NULL,NULL),(14334,'UniProt Function',NULL,17147,NULL,'May play a role in cartilage scaffolding.',NULL,NULL,NULL,NULL,NULL),(14335,'UniProt Function',NULL,17149,NULL,'Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 6.5-8.5 (PubMed:10781606, PubMed:26190575). Acts as a key regulator of sphingolipid signaling metabolites by generating sphingosine at the cell surface. Acts as a repressor of apoptosis both by reducing C16-ceramide, thereby preventing ceramide-induced apoptosis, and generating sphingosine, a precursor of the antiapoptotic factor sphingosine 1-phosphate. Probably involved in the digestion of dietary sphingolipids in intestine by acting as a key enzyme for the catabolism of dietary sphingolipids and regulating the levels of bioactive sphingolipid metabolites in the intestinal tract.',NULL,NULL,NULL,NULL,NULL),(14336,'UniProt Function',NULL,17150,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. May play a role in the initiation of arteriogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(14337,'UniProt Function',NULL,17151,NULL,'Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14338,'UniProt Function',NULL,17153,NULL,'Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction.',NULL,NULL,NULL,NULL,NULL),(14339,'UniProt Function',NULL,17154,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14340,'UniProt Function',NULL,17155,NULL,'AS-C proteins are involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system.',NULL,NULL,NULL,NULL,NULL),(14341,'UniProt Function',NULL,17157,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14342,'UniProt Function',NULL,17158,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14343,'UniProt Function',NULL,17159,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14344,'UniProt Function',NULL,17160,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14345,'UniProt Function',NULL,17161,NULL,'Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly. Does not participate in replication-independent nucleosome deposition which is mediated by ASF1A and HIRA. Required for spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(14346,'UniProt Function',NULL,17163,NULL,'Has in vitro nucleotide phosphodiesterase activity with nucleoside triphosphates, such as ATP (PubMed:25288789, PubMed:26783088). Has in vitro activity with p-nitrophenyl-TMP (PubMed:25288789). Has lower activity with nucleoside diphosphates, and no activity with nucleoside monophosphates (PubMed:25288789, PubMed:26783088). Has in vitro activity with CDP-choline, giving rise to CMP and phosphocholine. Has in vitro activity with CDP-ethanolamine (PubMed:26783088). Does not have sphingomyelin phosphodiesterase activity (PubMed:25288789, PubMed:26783088).',NULL,NULL,NULL,NULL,NULL),(14347,'UniProt Function',NULL,17164,NULL,'Lipid-modulating phosphodiesterase (PubMed:26095358). Active on the surface of macrophages and dendritic cells and strongly influences macrophage lipid composition and membrane fluidity. Acts as a negative regulator of Toll-like receptor signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(14348,'UniProt Function',NULL,17165,NULL,'Unknown. The presence of the putative catalytic domain of S-adenosyl-L-methionine binding argues for a methyltransferase activity.',NULL,NULL,NULL,NULL,NULL),(14349,'UniProt Function',NULL,17166,NULL,'Isoform 1 catalyzes the transfer of a methyl group onto N-acetylserotonin, producing melatonin (N-acetyl-5-methoxytryptamine). Isoform 2 and isoform 3 lack enzyme activity.',NULL,NULL,NULL,NULL,NULL),(14350,'UniProt Function',NULL,17167,NULL,'ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors, where the tail-anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. Subsequently, the homodimer reverts towards the open dimer state, lowering its affinity for the membrane-bound receptor, and returning it to the cytosol to initiate a new round of targeting (By similarity). May be involved in insulin signaling.',NULL,NULL,NULL,NULL,NULL),(14351,'UniProt Function',NULL,17168,NULL,'Can transfer its iron-sulfur clusters to the apoferrodoxins FDX1 and FDX2. Contributes to mitochondrial iron homeostasis and in maintaining normal levels of free iron and reactive oxygen species, and thereby contributes to normal mitochondrial function.',NULL,NULL,NULL,NULL,NULL),(14352,'UniProt Function',NULL,17169,NULL,'Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT.',NULL,NULL,NULL,NULL,NULL),(14353,'UniProt Function',NULL,17170,NULL,'Specifically catalyzes the NAD or NADP-dependent dehydrogenation of L-aspartate to iminoaspartate.',NULL,NULL,NULL,NULL,NULL),(14354,'UniProt Function',NULL,17171,NULL,'Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins.',NULL,NULL,NULL,NULL,NULL),(14355,'UniProt Function',NULL,17172,NULL,'Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53. Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo.',NULL,NULL,NULL,NULL,NULL),(14356,'UniProt Function',NULL,17173,NULL,'Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions. Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. Inhibits the ability of APPBP1 to conjugate NEDD8 to CUL1, and thereby decreases APPBP1 ability to induce apoptosis. Impedes cell cycle progression at G2/M. Its apoptosis-stimulating activity is inhibited by its interaction with DDX42.',NULL,NULL,NULL,NULL,NULL),(14357,'UniProt Function',NULL,17174,NULL,'Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.',NULL,NULL,NULL,NULL,NULL),(14358,'UniProt Function',NULL,17174,NULL,'Isoform 8: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells.',NULL,NULL,NULL,NULL,NULL),(14359,'UniProt Function',NULL,17175,NULL,'Transcriptional coactivator of the p300/CBP-mediated transcription complex. Enhances SMAD-mediated transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the p300/CBP transcription coactivator complex. Stimulates estrogen-dependent transactivation activity mediated by estrogen receptors signaling; stabilizes the interaction of estrogen receptor ESR1 and histone acetyltransferase EP300. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Induces transcription from estrogen-responsive promoters and protection against cell death. Potentiates EGR2-mediated transcriptional activation activity from the ERBB2 promoter. Acts as an inhibitor of osteoblastic mineralization through a cAMP-dependent parathyroid hormone receptor signaling. May play a role in pigmentation of melanocytes. Associates with chromatin to the estrogen-responsive TGF-alpha promoter region in a estrogen-dependent manner.',NULL,NULL,NULL,NULL,NULL),(14360,'UniProt Function',NULL,17176,NULL,'Transcriptional coactivator of the p300/CBP-mediated transcription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator-activated receptors PPARA transcriptional activity. Enhances estrogen-dependent transactivation mediated by estrogen receptors. Acts also as a transcriptional corepressor; interferes with the binding of the transcription factors HIF1A or STAT2 and the p300/CBP transcriptional coactivator complex. Participates in sex determination and early gonad development by stimulating transcription activation of SRY. Plays a role in controlling left-right patterning during embryogenesis; potentiates transcriptional activation of NODAL-mediated gene transcription in the left lateral plate mesoderm (LPM). Plays an essential role in differentiation of the adrenal cortex from the adrenogonadal primordium (AGP); stimulates WT1-mediated transcription activation thereby up-regulating the nuclear hormone receptor NR5A1 promoter activity. Associates with chromatin to the PITX2 P1 promoter region.',NULL,NULL,NULL,NULL,NULL),(14361,'UniProt Function',NULL,17177,NULL,'Acts as transcriptional coactivator for TFAP2/AP-2. Enhances estrogen-dependent transactivation mediated by estrogen receptors. May function as an inhibitor of transactivation by HIF1A by disrupting HIF1A interaction with CREBBP. May be involved in regulation of gene expression during development and differentiation of blood cells, endothelial cells and mammary epithelial cells.',NULL,NULL,NULL,NULL,NULL),(14362,'UniProt Function',NULL,17196,NULL,'Exhibits ester hydrolase activity on the substrate p-nitrophenyl acetate.',NULL,NULL,NULL,NULL,NULL),(14363,'UniProt Function',NULL,17202,NULL,'Probable tumor suppressor initially identified as a CDK5R1 interactor controlling cell proliferation (PubMed:12054757, PubMed:12737517). Negatively regulates NF-kappa-B-mediated gene transcription through the control of RELA phosphorylation (PubMed:17785205, PubMed:20228063). Also regulates mitotic G2/M transition checkpoint and mitotic G2 DNA damage checkpoint (PubMed:15790566, PubMed:19223857). Through its interaction with CDKN2A/ARF and MDM2 may induce MDM2-dependent p53/TP53 ubiquitination, stabilization and activation in the nucleus, thereby promoting G1 cell cycle arrest and inhibition of cell proliferation (PubMed:16173922). May play a role in the unfolded protein response, mediating the ufmylation of multiple proteins in response to endoplasmic reticulum stress (PubMed:23152784). May also play a role in the rupture of the nuclear envelope during apoptosis (PubMed:23478299). May regulate MAPK14 activity by regulating its dephosphorylation by PPM1D/WIP1 (PubMed:21283629).',NULL,NULL,NULL,NULL,NULL),(14364,'UniProt Function',NULL,17202,NULL,'(Microbial infection) May be negatively regulated by hepatitis B virus large envelope protein mutant pre-s2 to promote mitotic entry.',NULL,NULL,NULL,NULL,NULL),(14365,'UniProt Function',NULL,17205,NULL,'Acts as a backup for CMTM6 to regulate plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. May protect PD-L1/CD274 from being polyubiquitinated and targeted for degradation.',NULL,NULL,NULL,NULL,NULL),(14366,'UniProt Function',NULL,17207,NULL,'Master regulator of recycling and plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. Associates with both constitutive and IFNG-induced PD-L1/CD274 at recycling endosomes, where it protects PD-L1/CD274 from being targeted for lysosomal degradation, likely by preventing its STUB1-mediated ubiquitination. May stabilize PD-L1/CD274 expression on antigen presenting cells and potentiates inhibitory signaling by PDCD1/CD279, its receptor on T-cells, ultimately triggering T-cell anergy.',NULL,NULL,NULL,NULL,NULL),(14367,'UniProt Function',NULL,17219,NULL,'Binds polysaccharides in a Ca(2+)-independent manner with a preferentially binding to fucoidan, beta-glucans and galactans (PubMed:26170455).',NULL,NULL,NULL,NULL,NULL),(14368,'UniProt Function',NULL,17220,NULL,'Binds polysaccharides in a Ca(2+)-independent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(14369,'UniProt Function',NULL,17221,NULL,'Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules. Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3-kinase signaling. Also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle.',NULL,NULL,NULL,NULL,NULL),(14370,'UniProt Function',NULL,17223,NULL,'Probable role in regulating adaptive and innate immune responses. Binds in a calcium-dependent manner to terminal galactose and N-acetylgalactosamine units, linked to serine or threonine. These sugar moieties are known as Tn-Ag and are expressed in a variety of carcinoma cells.',NULL,NULL,NULL,NULL,NULL),(14371,'UniProt Function',NULL,17224,NULL,'Promotes osteogenesis by stimulating the differentiation of mesenchymal progenitors into mature osteoblasts (PubMed:27976999). Important for repair and maintenance of adult bone (By similarity).',NULL,NULL,NULL,NULL,NULL),(14372,'UniProt Function',NULL,17225,NULL,'Plays a role in modulating the extent of T-cell expansion. Enhances the expansion of TCR-stimulated T-cells by increasing their survival through enhanced expression of anti-apoptotic proteins. May modulate the capacity of T-cells to home to lymph nodes through SELL. Facilitates dedicated immune recognition of keratinocytes via interaction with its receptor KLRF2 by stimulating natural killer cell mediated cytotoxicity.',NULL,NULL,NULL,NULL,NULL),(14373,'UniProt Function',NULL,17227,NULL,'May act as a guanine nucleotide exchange factor (GEF).',NULL,NULL,NULL,NULL,NULL),(14374,'UniProt Function',NULL,17228,NULL,'Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: upon phosphorylation by AURKB, together with ZFYVE19/ANCHR, retains abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ANCHR and VPS4 and subsequent abscission (PubMed:22422861, PubMed:24814515). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in HIV-1 p6- and p9-dependent virus release. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(14375,'UniProt Function',NULL,17229,NULL,'Dorsalizing factor. Key developmental protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta family bone morphogenetic proteins (BMPs) and sequestering them in latent complexes (By similarity).',NULL,NULL,NULL,NULL,NULL),(14376,'UniProt Function',NULL,17230,NULL,'Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling.',NULL,NULL,NULL,NULL,NULL),(14377,'UniProt Function',NULL,17231,NULL,'Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Specific activity is much reduced compared to CHSY1.',NULL,NULL,NULL,NULL,NULL),(14378,'UniProt Function',NULL,17232,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues within keratan-like structures on N-linked glycans and within mucin-associated glycans that can ultimately serve as SELL ligands. SELL ligands are present in high endothelial cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation. Participates in biosynthesis of the SELL ligand sialyl 6-sulfo Lewis X and in lymphocyte homing to Peyer patches. Has no activity toward O-linked sugars. Its substrate specificity may be influenced by its subcellular location. Sulfates GlcNAc residues at terminal, non-reducing ends of oligosaccharide chains.',NULL,NULL,NULL,NULL,NULL),(14379,'UniProt Function',NULL,17233,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen.',NULL,NULL,NULL,NULL,NULL),(14380,'UniProt Function',NULL,17234,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues within mucin-associated glycans that ultimately serve as SELL ligands. SELL ligands are present in high endothelial cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation. Participates in biosynthesis of the SELL ligand sialyl 6-sulfo Lewis X on receptors SPN/CD43, GLYCAM1 and MADCAM1. Also involved in biosynthesis of SELL ligand recognized by MECA-79 antibody. Plays a central role in lymphocyte trafficking during chronic inflammation. Has a catalytic preference for core 2-branched mucin-type O-glycans. Can use GlcNAcbeta1-6[Galbeta1-3]GalNAc-pNP (core 2), GlcNAcbeta1-6ManOMe and GlcNAcbeta1-2Man oligosaccharide structures as acceptors. Has also activity toward core 3 of GlcNAcbeta1-3GalNAc-pNP. Its substrate specificity may be influenced by its subcellular location.',NULL,NULL,NULL,NULL,NULL),(14381,'UniProt Function',NULL,17235,NULL,'Catalyzes the transfer of sulfate to position 3 of terminal glucuronic acid of both protein- and lipid-linked oligosaccharides. Participates in biosynthesis of HNK-1 carbohydrate structure, a sulfated glucuronyl-lactosaminyl residue carried by many neural recognition molecules, which is involved in cell interactions during ontogenetic development and in synaptic plasticity in the adult. May be indirectly involved in synapse plasticity of the hippocampus, via its role in HNK-1 biosynthesis.',NULL,NULL,NULL,NULL,NULL),(14382,'UniProt Function',NULL,17236,NULL,'Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. Appears to have an important role in the formation of the cerebellar neural network during postnatal brain development.',NULL,NULL,NULL,NULL,NULL),(14383,'UniProt Function',NULL,17237,NULL,'Plays an important role in the ligand-dependent activation of estrogen receptor target genes (PubMed:19858291). May play a role in the silencing of fetal globin genes (PubMed:20688955). Recruits the 5FMC complex to ZNF148, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (By similarity). Plays an important role in the tumorigenicity of glioblastoma cells. Binds to 5-hydroxymethylcytosine (5hmC) and associates with the methylosome complex containing PRMT1, PRMT5, MEP50 and ERH. The CHTOP-methylosome complex associated with 5hmC is recruited to selective sites on the chromosome, where it methylates H4R3 and activates the transcription of genes involved in glioblastomagenesis (PubMed:25284789).',NULL,NULL,NULL,NULL,NULL),(14384,'UniProt Function',NULL,17237,NULL,'Required for effective mRNA nuclear export and is a component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5\' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi\'s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Stimulates DDX39B ATPase and helicase activities. In cooperation with ALYREF/THOC4 enhances NXF1 RNA binding activity (PubMed:23299939).',NULL,NULL,NULL,NULL,NULL),(14385,'UniProt Function',NULL,17238,NULL,'Isoform 2 may act as a competitive inhibitor of calmodulin-dependent enzymes such as calcineurin in neurons.',NULL,NULL,NULL,NULL,NULL),(14386,'UniProt Function',NULL,17241,NULL,'ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9000076). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9000076). Seems to contact the pointed end of the daughter actin filament (PubMed:9000076). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:17220302, PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).',NULL,NULL,NULL,NULL,NULL),(14387,'UniProt Function',NULL,17243,NULL,'Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Involved in DNA double-strand break repair and UV-damage excision repair.',NULL,NULL,NULL,NULL,NULL),(14388,'UniProt Function',NULL,17248,NULL,'Plays an important role in the functional organization of mitotic chromosomes. Exhibits low basal ATPase activity, and unable to polymerize.',NULL,NULL,NULL,NULL,NULL),(14389,'UniProt Function',NULL,17248,NULL,'Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Required for the recruitment of INO80 (and probably the INO80 complex) to sites of DNA damage. Strongly prefer nucleosomes and H3-H4 tetramers over H2A-H2B dimers, suggesting it may act as a nucleosome recognition module within the complex.',NULL,NULL,NULL,NULL,NULL),(14390,'UniProt Function',NULL,17251,NULL,'Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:23891004). As a CIA complex component and in collaboration with CIAO1 specifically matures ACO1 and stabilizes IREB2, connecting cytosolic iron-sulfur protein maturation with cellular iron regulation (PubMed:23891004). May play a role in chromosome segregation through establishment of sister chromatid cohesion. May induce apoptosis in collaboration with APAF1 (PubMed:25716227).',NULL,NULL,NULL,NULL,NULL),(14391,'UniProt Function',NULL,17252,NULL,'Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:23891004, PubMed:22678362, PubMed:22678361). As a CIA complex component and in collaboration with CIAO1 and MMS19, binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins (PubMed:23891004). As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD (PubMed:20797633).',NULL,NULL,NULL,NULL,NULL),(14392,'UniProt Function',NULL,17253,NULL,'Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (PubMed:23886940, PubMed:27462458). Through an ubiquitination-dependent mechanism plays for instance a role in the incorporation of SLC11A2 into extracellular vesicles (PubMed:27462458). More generally, plays a role in the extracellular transport of proteins between cells through the release in the extracellular space of microvesicles (PubMed:22315426). By participating to the ITCH-mediated ubiquitination and subsequent degradation of NOTCH1, negatively regulates the NOTCH signaling pathway (PubMed:23886940).',NULL,NULL,NULL,NULL,NULL),(14393,'UniProt Function',NULL,17254,NULL,'Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:17937914, PubMed:23891004). As a CIA complex component, interacts specifically with CIAO2A or CIAO2B and MMS19 to assist different branches of iron-sulfur protein assembly, depending of its interactors. The complex CIAO1:CIAO2B:MMS19 binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins. CIAO1:CIAO2A specifically matures ACO1 and stabilizes IREB2 (PubMed:23891004). Seems to specifically modulate the transactivation activity of WT1 (PubMed:9556563). As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation (PubMed:20797633).',NULL,NULL,NULL,NULL,NULL),(14394,'UniProt Function',NULL,17255,NULL,'Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (By similarity). Plays a role in endocytosis of activated G protein-coupled receptors (GPCRs) (Probable). Through an ubiquitination-dependent mechanism plays also a role in the incorporation of SLC11A2 into extracellular vesicles (By similarity). May play a role in glucose uptake (PubMed:19605364).',NULL,NULL,NULL,NULL,NULL),(14395,'UniProt Function',NULL,17256,NULL,'Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to negatively regulate the level of HIF1A expression, although this effect could be indirect.',NULL,NULL,NULL,NULL,NULL),(14396,'UniProt Function',NULL,17257,NULL,'Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO (By similarity). May play a role in preventing light-dependent degeneration of retinal photoreceptor cells (PubMed:9565049).',NULL,NULL,NULL,NULL,NULL),(14397,'UniProt Function',NULL,17258,NULL,'Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).',NULL,NULL,NULL,NULL,NULL),(14398,'UniProt Function',NULL,17259,NULL,'Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).',NULL,NULL,NULL,NULL,NULL),(14399,'UniProt Function',NULL,17260,NULL,'Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).',NULL,NULL,NULL,NULL,NULL),(14400,'UniProt Function',NULL,17261,NULL,'Displays arylsulfatase activity at neutral pH, when co-expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts.',NULL,NULL,NULL,NULL,NULL),(14401,'UniProt Function',NULL,17262,NULL,'Ligand for the GFR-alpha-3-RET receptor complex but can also activate the GFR-alpha-1-RET receptor complex. Supports the survival of sensory and sympathetic peripheral neurons in culture and also supports the survival of dopaminergic neurons of the ventral mid-brain. Strong attractant of gut hematopoietic cells thus promoting the formation Peyer\'s patch-like structures, a major component of the gut-associated lymphoid tissue.',NULL,NULL,NULL,NULL,NULL),(14402,'UniProt Function',NULL,17263,NULL,'Activates apoptosis.',NULL,NULL,NULL,NULL,NULL),(14403,'UniProt Function',NULL,17264,NULL,'Involved in protein-protein interactions at adherens junctions.',NULL,NULL,NULL,NULL,NULL),(14404,'UniProt Function',NULL,17265,NULL,'Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate.',NULL,NULL,NULL,NULL,NULL),(14405,'UniProt Function',NULL,17266,NULL,'Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes TNFRSF1B.',NULL,NULL,NULL,NULL,NULL),(14406,'UniProt Function',NULL,17267,NULL,'Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types (By similarity). Plays a role in ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(14407,'UniProt Function',NULL,17268,NULL,'Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14408,'UniProt Function',NULL,17269,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14409,'UniProt Function',NULL,17270,NULL,'Promotes cell proliferation.',NULL,NULL,NULL,NULL,NULL),(14410,'UniProt Function',NULL,17271,NULL,'Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14411,'UniProt Function',NULL,17272,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14412,'UniProt Function',NULL,17273,NULL,'Acts in part as a hepatokine that is involved in regulation of lipid and glucose metabolism (PubMed:11788823, PubMed:12909640, PubMed:23661675, PubMed:25495645). Proposed to play a role in the trafficking of energy substrates to either storage or oxidative tissues in response to food intake (By similarity). Has a stimulatory effect on plasma triglycerides (TG), which is achieved by suppressing plasma TG clearance via inhibition of LPL activity. The inhibition of LPL activity appears to be an indirect mechanism involving recruitment of proprotein convertases PCSK6 and FURIN to LPL leading to cleavage and dissociation of LPL from the cell surface; the function does not require ANGPTL3 proteolytic cleavage but seems to be mediated by the N-terminal domain, and is not inhibited by GPIHBP1 (PubMed:12097324, PubMed:19318355, PubMed:20581395). Can inhibit endothelial lipase, causing increased plasma levels of high density lipoprotein (HDL) cholesterol and phospholipids (PubMed:17110602, PubMed:19028676). Can bind to adipocytes to activate lipolysis, releasing free fatty acids and glycerol (PubMed:12565906). Suppresses LPL specifically in oxidative tissues which is required to route very low density lipoprotein (VLDL)-TG to white adipose tissue (WAT) for storage in response to food; the function may involve cooperation with circulating, liver-derived ANGPTL8 and ANGPTL4 expression in WAT (By similarity). Contributes to lower plasma levels of low density lipoprotein (LDL)-cholesterol by a mechanism that is independent of the canonical pathway implicating APOE and LDLR. May stimulate hypothalamic LPL activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(14413,'UniProt Function',NULL,17273,NULL,'ANGPTL3(17-221): In vitro inhibits LPL activity; not effective on GPIHBP1-stabilized LPL.',NULL,NULL,NULL,NULL,NULL),(14414,'UniProt Function',NULL,17273,NULL,'Involved in angiogenesis. Binds to endothelial cells via integrin alpha-V/beta-3 (ITGAV:ITGB3), activates FAK, MAPK and Akt signaling pathways and induces cell adhesion and cell migration (PubMed:11877390). Secreted from podocytes, may modulate properties of glomerular endothelial cells involving integrin alpha-V/beta-3 and Akt signaling (PubMed:18535744). May increase the motility of podocytes. May induce actin filament rearrangements in podocytes implicating integrin alpha-V/beta-3 and Rac1 activation. Binds to hematopoietic stem cells (HSC) and is involved in the regulation of HSC activity probably implicating down-regulation of IKZF1/IKAROS (By similarity).',NULL,NULL,NULL,NULL,NULL),(14415,'UniProt Function',NULL,17275,NULL,'Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys.',NULL,NULL,NULL,NULL,NULL),(14416,'UniProt Function',NULL,17275,NULL,'Functions in L-arginine homeostasis in nonhepatic tissues characterized by the competition between nitric oxide synthase (NOS) and arginase for the available intracellular substrate arginine. Arginine metabolism is a critical regulator of innate and adaptive immune responses. Involved in an antimicrobial effector pathway in polymorphonuclear granulocytes (PMN). Upon PMN cell death is liberated from the phagolysosome and depletes arginine in the microenvironment leading to suppressed T cell and natural killer (NK) cell proliferation and cytokine secretion (PubMed:15546957, PubMed:16709924, PubMed:19380772). In group 2 innate lymphoid cells (ILC2s) promotes acute type 2 inflammation in the lung and is involved in optimal ILC2 proliferation but not survival (By similarity). In humans, the immunological role in the monocytic/macrophage/dendritic cell (DC) lineage is unsure.',NULL,NULL,NULL,NULL,NULL),(14417,'UniProt Function',NULL,17276,NULL,'Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. May be involved in transport between a perinuclear compartment and the plasma membrane, apparently linked to the ABCA1-mediated cholesterol secretion pathway. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in the GDP-bound form. Regulates the microtubule-dependent intracellular vesicular transport from early endosome to recycling endosome process.',NULL,NULL,NULL,NULL,NULL),(14418,'UniProt Function',NULL,17277,NULL,'Activates Rho-GTPases by promoting the exchange of GDP for GTP. May be involved in epithelial barrier permeability, cell motility and polarization, dendritic spine morphology, antigen presentation, leukemic cell differentiation, cell cycle regulation, innate immune response, and cancer. Binds Rac-GTPases, but does not seem to promote nucleotide exchange activity toward Rac-GTPases, which was uniquely reported in PubMed:9857026. May stimulate instead the cortical activity of Rac. Inactive toward CDC42, TC10, or Ras-GTPases. Forms an intracellular sensing system along with NOD1 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIP2 dependent NF-kappaB signaling pathways activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides through NOD1 that is independent of its GEF activity, but also in the activation of NF-kappaB by Shigella effector proteins (IpgB2 and OspB) which requires its GEF activity and the activation of RhoA. Involved in innate immune signaling transduction pathway promoting cytokine IL6/interleukin-6 and TNF-alpha secretion in macrophage upon stimulation by bacterial peptidoglycans; acts as a signaling intermediate between NOD2 receptor and RIPK2 kinase. Contributes to the tyrosine phosphorylation of RIPK2 through Src tyrosine kinase leading to NF-kappaB activation by NOD2. Overexpression activates Rho-, but not Rac-GTPases, and increases paracellular permeability (By similarity). Involved in neuronal progenitor cell division and differentiation (PubMed:28453519). Involved in the migration of precerebellar neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(14419,'UniProt Function',NULL,17278,NULL,'May play a role in lysosome motility (PubMed:16537643, PubMed:25898167). May play a role in chromosome segregation (PubMed:15331635).',NULL,NULL,NULL,NULL,NULL),(14420,'UniProt Function',NULL,17279,NULL,'Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade, promotes the formation of spines and synapses in hippocampal neurons.',NULL,NULL,NULL,NULL,NULL),(14421,'UniProt Function',NULL,17280,NULL,'Catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Only active against terminal GalNAcbeta1,GalNAcbeta. Not active toward chondroitin.',NULL,NULL,NULL,NULL,NULL),(14422,'UniProt Function',NULL,17281,NULL,'Catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Participates in biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Has a higher activity toward carbonic anhydrase VI than toward lutropin. Only active against terminal GalNAcbeta1,GalNAcbeta. Isoform 2, but not isoform 1, is active toward chondroitin.',NULL,NULL,NULL,NULL,NULL),(14423,'UniProt Function',NULL,17282,NULL,'Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Activity toward partially desulfated dermatan sulfate is however lower. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor.',NULL,NULL,NULL,NULL,NULL),(14424,'UniProt Function',NULL,17283,NULL,'Sulfotransferase that transfers sulfate from 3\'-phosphoadenosine 5\'-phosphosulfate (PAPS) to the C-6 hydroxyl group of the GalNAc 4-sulfate residue of chondroitin sulfate A and forms chondroitin sulfate E containing GlcA-GalNAc(4,6-SO(4)) repeating units. It also transfers sulfate to a unique non-reducing terminal sequence, GalNAc(4SO4)-GlcA(2SO4)-GalNAc(6SO4), to yield a highly sulfated structure similar to the structure found in thrombomodulin chondroitin sulfate. May also act as a B-cell receptor involved in BCR ligation-mediated early activation that mediate regulatory signals key to B-cell development and/or regulation of B-cell-specific RAG expression; however such results are unclear in vivo.',NULL,NULL,NULL,NULL,NULL),(14425,'UniProt Function',NULL,17284,NULL,'Transcriptional activator that mediates FGF signaling during neural development. Plays a role in the regulation of cell movement (By similarity). Does not bind DNA by itself.',NULL,NULL,NULL,NULL,NULL),(14426,'UniProt Function',NULL,17295,NULL,'Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).',NULL,NULL,NULL,NULL,NULL),(14427,'UniProt Function',NULL,17297,NULL,'Hydrolyzes cerebroside sulfate.',NULL,NULL,NULL,NULL,NULL),(14428,'UniProt Function',NULL,17298,NULL,'Calcium-binding protein critical for proper photoreceptor cell maintenance and function. Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release (PubMed:23023331, PubMed:26173970, PubMed:26426422). May be involved in the mechanotransduction process (By similarity).',NULL,NULL,NULL,NULL,NULL),(14429,'UniProt Function',NULL,17301,NULL,'May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates.',NULL,NULL,NULL,NULL,NULL),(14430,'UniProt Function',NULL,17303,NULL,'Acts as a CEBPB coactivator in mammary epithelial cells to control the expression of a subset of CEBPB downstream target genes, including ID2, IGF1, PRLR, SOCS1, SOCS3, XDH, but not casein. By interacting with CEBPB, strengthens the association of CEBPB with the XDH promoter, increases histone acetylation and dissociates HDAC1 from the promoter (By similarity). Binds to lipid droplets and regulates their enlargement, thereby restricting lipolysis and favoring storage. At focal contact sites between lipid droplets, promotes directional net neutral lipid transfer from the smaller to larger lipid droplets. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair and occurs at a lower rate than that promoted by CIDEC. When overexpressed, induces apoptosis. The physiological significance of its role in apoptosis is unclear.',NULL,NULL,NULL,NULL,NULL),(14431,'UniProt Function',NULL,17304,NULL,'Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis (PubMed:11063737, PubMed:12145310, PubMed:20663892). Participates in sterol transport out of the ER and distribution into plasma membranes (PubMed:20663892).',NULL,NULL,NULL,NULL,NULL),(14432,'UniProt Function',NULL,17305,NULL,'Binds to lipid droplets and regulates their enlargement, thereby restricting lipolysis and favoring storage. At focal contact sites between lipid droplets, promotes directional net neutral lipid transfer from the smaller to larger lipid droplets. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair. Its role in neutral lipid transfer and lipid droplet enlargement is activated by the interaction with PLIN1. May act as a CEBPB coactivator in the white adipose tissue to control the expression of a subset of CEBPB downstream target genes, including SOCS1, SOCS3, TGFB1, TGFBR1, ID2 and XDH. When overexpressed in preadipocytes, induces apoptosis or increases cell susceptibility to apoptosis induced by serum deprivation or TGFB treatment. As mature adipocytes, that express high CIDEC levels, are quite resistant to apoptotic stimuli, the physiological significance of its role in apoptosis is unclear. May play a role in the modulation of the response to osmotic stress by preventing NFAT5 to translocate into the nucleus and activate its target genes expression.',NULL,NULL,NULL,NULL,NULL),(14433,'UniProt Function',NULL,17306,NULL,'Catalyzes the transfer of a methyl group from AdoMet to trivalent arsenicals producing methylated and dimethylated arsenicals (PubMed:16407288, PubMed:25997655). It methylates arsenite to form methylarsonate, Me-AsO(3)H(2), which is reduced by methylarsonate reductase to methylarsonite, Me-As(OH)2 (PubMed:16407288, PubMed:25997655). Methylarsonite is also a substrate and it is converted into the much less toxic compound dimethylarsinate (cacodylate), Me(2)As(O)-OH (PubMed:16407288, PubMed:25997655).',NULL,NULL,NULL,NULL,NULL),(14434,'UniProt Function',NULL,17307,NULL,'Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage.',NULL,NULL,NULL,NULL,NULL),(14435,'UniProt Function',NULL,17308,NULL,'Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens.',NULL,NULL,NULL,NULL,NULL),(14436,'UniProt Function',NULL,17309,NULL,'Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens.',NULL,NULL,NULL,NULL,NULL),(14437,'UniProt Function',NULL,17310,NULL,'Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid.',NULL,NULL,NULL,NULL,NULL),(14438,'UniProt Function',NULL,17311,NULL,'Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes differentiation and maturation of the vascular lineage by an oxygen-dependent mechanism (By similarity).',NULL,NULL,NULL,NULL,NULL),(14439,'UniProt Function',NULL,17312,NULL,'Activates the small GTPases ARF1, ARF5 and ARF6. Regulates the formation of post-Golgi vesicles and modulates constitutive secretion. Modulates phagocytosis mediated by Fc gamma receptor and ARF6. Modulates PXN recruitment to focal contacts and cell migration.',NULL,NULL,NULL,NULL,NULL),(14440,'UniProt Function',NULL,17313,NULL,'Substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes at least two forms of creatine kinase, CKB and CKMT1A.',NULL,NULL,NULL,NULL,NULL),(14441,'UniProt Function',NULL,17314,NULL,'May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14442,'UniProt Function',NULL,17315,NULL,'Plays a role in DNA damage repair as component of the ASCC complex. Recruits ASCC3 and ALKBH3 to sites of DNA damage by binding to polyubiquitinated proteins that have \'Lys-63\'-linked polyubiquitin chains (PubMed:29144457). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347).',NULL,NULL,NULL,NULL,NULL),(14443,'UniProt Function',NULL,17316,NULL,'3\'-5\' DNA helicase involved in repair of alkylated DNA. Promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3, enabling ALKBH3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions (PubMed:22055184). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347).',NULL,NULL,NULL,NULL,NULL),(14444,'UniProt Function',NULL,17317,NULL,'Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5\'-CANNTG-3\') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic neurons. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signaling activation.',NULL,NULL,NULL,NULL,NULL),(14445,'UniProt Function',NULL,17318,NULL,'Transcriptional repressor. Inhibits myogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(14446,'UniProt Function',NULL,17319,NULL,'Could be a transcriptional regulator involved in skin development.',NULL,NULL,NULL,NULL,NULL),(14447,'UniProt Function',NULL,17320,NULL,'Functions as key mediator in apoptosis and inflammation. Promotes caspase-mediated apoptosis involving predominantly caspase-8 and also caspase-9 in a probable cell type-specific manner. Involved in activation of the mitochondrial apoptotic pathway, promotes caspase-8-dependent proteolytic maturation of BID independently of FADD in certain cell types and also mediates mitochondrial translocation of BAX and activates BAX-dependent apoptosis coupled to activation of caspase-9, -2 and -3. Involved in macrophage pyroptosis, a caspase-1-dependent inflammatory form of cell death and is the major constituent of the ASC pyroptosome which forms upon potassium depletion and rapidly recruits and activates caspase-1. In innate immune response believed to act as an integral adapter in the assembly of the inflammasome which activates caspase-1 leading to processing and secretion of proinflammatory cytokines. The function as activating adapter in different types of inflammasomes is mediated by the pyrin and CARD domains and their homotypic interactions. Required for recruitment of caspase-1 to inflammasomes containing certain pattern recognition receptors, such as NLRP2, NLRP3, AIM2 and probably IFI16. In the NLRP1 and NLRC4 inflammasomes seems not be required but facilitates the processing of procaspase-1. In cooperation with NOD2 involved in an inflammasome activated by bacterial muramyl dipeptide leading to caspase-1 activation. May be involved in DDX58-triggered proinflammatory responses and inflammasome activation. Isoform 2 may have a regulating effect on the function as inflammasome adapter. Isoform 3 seems to inhibit inflammasome-mediated maturation of interleukin-1 beta. In collaboration with AIM2 which detects cytosolic double-stranded DNA may also be involved in a caspase-1-independent cell death that involves caspase-8. In adaptive immunity may be involved in maturation of dendritic cells to stimulate T-cell immunity and in cytoskeletal rearrangements coupled to chemotaxis and antigen uptake may be involved in post-transcriptional regulation of the guanine nucleotide exchange factor DOCK2; the latter function is proposed to involve the nuclear form. Also involved in transcriptional activation of cytokines and chemokines independent of the inflammasome; this function may involve AP-1, NF-kappa-B, MAPK and caspase-8 signaling pathways. For regulation of NF-kappa-B activating and inhibiting functions have been reported. Modulates NF-kappa-B induction at the level of the IKK complex by inhibiting kinase activity of CHUK and IKBK. Proposed to compete with RIPK2 for association with CASP1 thereby down-regulating CASP1-mediated RIPK2-dependent NF-kappa-B activation and activating interleukin-1 beta processing. Modulates host resistance to DNA virus infection, probably by inducing the cleavage of and inactivating CGAS in presence of cytoplasmic double-stranded DNA (PubMed:28314590).',NULL,NULL,NULL,NULL,NULL),(14448,'UniProt Function',NULL,17321,NULL,'Interacts with the components of the replication complex and 2 kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication. Regulates ATR-mediated checkpoint signaling.',NULL,NULL,NULL,NULL,NULL),(14449,'UniProt Function',NULL,17322,NULL,'Required for translocation of GLUT4 to the plasma membrane in response to insulin signaling (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by recruiting WASL/N-WASP which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Required for the formation of podosomes, actin-rich adhesion structures specific to monocyte-derived cells. May be required for the lysosomal retention of FASLG/FASL.',NULL,NULL,NULL,NULL,NULL),(14450,'UniProt Function',NULL,17323,NULL,'May play a role in testis development (By similarity). Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14451,'UniProt Function',NULL,17324,NULL,'Transcriptional repressor which may act as a negative-feedback regulator of CLOCK-ARNTL/BMAL1 transcriptional activity in the circadian-clock mechanism. May stimulate ARNTL/BMAL1-dependent phosphorylation of CLOCK. However, the physiogical relevance of these observations is unsure, since experiments in an animal model showed that CIPC is not critially required for basic circadian clock.',NULL,NULL,NULL,NULL,NULL),(14452,'UniProt Function',NULL,17325,NULL,'Substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.',NULL,NULL,NULL,NULL,NULL),(14453,'UniProt Function',NULL,17325,NULL,'Isoform 1: Enhances adhesion of hematopoietic cells to fibronectin through targeting of filamins FLNA and FLNB for proteasomal degradation, it is transiantly expressed during hematopoietic cell differentiation.',NULL,NULL,NULL,NULL,NULL),(14454,'UniProt Function',NULL,17325,NULL,'Isoform 2: Involved in myogenic differentiation and targets filamin FLNB for proteasomal degradation but not filamin FLNA.',NULL,NULL,NULL,NULL,NULL),(14455,'UniProt Function',NULL,17326,NULL,'Stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases (PubMed:25753423). May also function in Wnt signaling by promoting the rapid degradation of CTNNB1 (PubMed:10021369, PubMed:11691822, PubMed:9823329).',NULL,NULL,NULL,NULL,NULL),(14456,'UniProt Function',NULL,17327,NULL,'Nuclease involved in single-strand and double-strand DNA break repair. Recruited to sites of DNA damage through interaction with poly(ADP-ribose), a polymeric post-translational modification synthesized transiently at sites of chromosomal damage to accelerate DNA strand break repair reactions. Displays apurinic-apyrimidinic (AP) endonuclease and 3\'-5\' exonuclease activities in vitro. Also able to introduce nicks at hydroxyuracil and other types of pyrimidine base damage.',NULL,NULL,NULL,NULL,NULL),(14457,'UniProt Function',NULL,17328,NULL,'Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.',NULL,NULL,NULL,NULL,NULL),(14458,'UniProt Function',NULL,17329,NULL,'Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis.',NULL,NULL,NULL,NULL,NULL),(14459,'UniProt Function',NULL,17330,NULL,'May have a role in chylomicrons and VLDL secretion and catabolism. Required for efficient activation of lipoprotein lipase by ApoC-II; potent activator of LCAT. Apoa-IV is a major component of HDL and chylomicrons.',NULL,NULL,NULL,NULL,NULL),(14460,'UniProt Function',NULL,17331,NULL,'Promotes activation of caspases and apoptosis. Promotes mitochondrial membrane changes and efflux of apoptogenic proteins from the mitochondria. Contributes to p53/TP53-dependent apoptosis after radiation exposure. Promotes proteasomal degradation of MCL1. Competes with BAK1 for binding to MCL1 and can displace BAK1 from its binding site on MCL1 (By similarity). Competes with BIM/BCL2L11 for binding to MCL1 and can displace BIM/BCL2L11 from its binding site on MCL1.',NULL,NULL,NULL,NULL,NULL),(14461,'UniProt Function',NULL,17333,NULL,'Component of the tRNA-splicing ligase complex required to facilitate the enzymatic turnover of catalytic subunit RTCB. Together with DDX1, acts by facilitating the guanylylation of RTCB, a key intermediate step in tRNA ligation.',NULL,NULL,NULL,NULL,NULL),(14462,'UniProt Function',NULL,17334,NULL,'Specifically phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors, probably inducing a desensitization of them. Key regulator of LPAR1 signaling. Competes with RALA for binding to LPAR1 thus affecting the signaling properties of the receptor. Desensitizes LPAR1 and LPAR2 in a phosphorylation-independent manner (PubMed:19306925, PubMed:19715378). Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by faciltating the trafficking of SMO into the cilium and the stimulation of SMO activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(14463,'UniProt Function',NULL,17335,NULL,'Master regulator of synaptic plasticity that self-assembles into virion-like capsids that encapsulate RNAs and mediate intercellular RNA transfer in the nervous system. ARC protein is released from neurons in extracellular vesicles that mediate the transfer of ARC mRNA into new target cells, where ARC mRNA can undergo activity-dependent translation. ARC capsids are endocytosed and are able to transfer ARC mRNA into the cytoplasm of neurons. Acts as a key regulator of synaptic plasticity: required for protein synthesis-dependent forms of long-term potentiation (LTP) and depression (LTD) and for the formation of long-term memory. Regulates synaptic plasticity by promoting endocytosis of AMPA receptors (AMPARs) in response to synaptic activity: this endocytic pathway maintains levels of surface AMPARs in response to chronic changes in neuronal activity through synaptic scaling, thereby contributing to neuronal homeostasis. Acts as a postsynaptic mediator of activity-dependent synapse elimination in the developing cerebellum by mediating elimination of surplus climbing fiber synapses. Accumulates at weaker synapses, probably to prevent their undesired enhancement. This suggests that ARC-containing virion-like capsids may be required to eliminate synaptic material. Required to transduce experience into long-lasting changes in visual cortex plasticity and for long-term memory (By similarity). Involved in postsynaptic trafficking and processing of amyloid-beta A4 (APP) via interaction with PSEN1 (By similarity). In addition to its role in synapses, also involved in the regulation of the immune system: specifically expressed in skin-migratory dendritic cells and regulates fast dendritic cell migration, thereby regulating T-cell activation (By similarity).',NULL,NULL,NULL,NULL,NULL),(14464,'UniProt Function',NULL,17336,NULL,'GTP-binding protein involved in protein trafficking that regulates endocytic recycling and cytoskeleton remodeling (PubMed:11266366, PubMed:21170023, PubMed:16737952, PubMed:7589240, PubMed:18400762). Required for normal completion of mitotic cytokinesis (By similarity). Plays a role in the reorganization of the actin cytoskeleton and the formation of stress fibers (By similarity). Involved in the regulation of dendritic spine development, contributing to the regulation of dendritic branching and filopodia extension (PubMed:14978216). Plays an important role in membrane trafficking, during junctional remodeling and epithelial polarization. Regulates surface levels of adherens junction proteins such as CDH1 (By similarity). Required for NTRK1 sorting to the recycling pathway from early endosomes (By similarity).',NULL,NULL,NULL,NULL,NULL),(14465,'UniProt Function',NULL,17336,NULL,'(Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase.',NULL,NULL,NULL,NULL,NULL),(14466,'UniProt Function',NULL,17337,NULL,'GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus.',NULL,NULL,NULL,NULL,NULL),(14467,'UniProt Function',NULL,17338,NULL,'Putative transcription factor.',NULL,NULL,NULL,NULL,NULL),(14468,'UniProt Function',NULL,17339,NULL,'Acts as guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC.',NULL,NULL,NULL,NULL,NULL),(14469,'UniProt Function',NULL,17340,NULL,'May act as a guanine-nucleotide releasing factor.',NULL,NULL,NULL,NULL,NULL),(14470,'UniProt Function',NULL,17341,NULL,'Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.',NULL,NULL,NULL,NULL,NULL),(14471,'UniProt Function',NULL,17342,NULL,'Regulates centrosome duplication, probably by inhibiting the kinase activity of ROCK2. Proposed to act as co-chaperone for HSP90. May play a role in the regulation of NOD1 via a HSP90 chaperone complex. In vitro, has intrinsic chaperone activity. This function may be achieved by inhibiting association of ROCK2 with NPM1. Involved in stress response. Prevents tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(14472,'UniProt Function',NULL,17343,NULL,'Binds mRNA and regulates the stability of target mRNA. Binds single-stranded DNA (in vitro).',NULL,NULL,NULL,NULL,NULL),(14473,'UniProt Function',NULL,17344,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues and O-linked sugars of mucin-type acceptors. Acts on the non-reducing terminal GlcNAc of short carbohydrate substrates. However, it does not transfer sulfate to longer carbohydrate substrates that have poly-N-acetyllactosamine structures. Has no activity toward keratan. Not involved in generating HEV-expressed ligands for SELL. Its substrate specificity may be influenced by its subcellular location.',NULL,NULL,NULL,NULL,NULL),(14474,'UniProt Function',NULL,17345,NULL,'Sulfotransferase that utilizes 3\'-phospho-5\'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues. Preferentially acts on mannose-linked GlcNAc. Also able to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Also acts on core 2 mucin-type oligosaccharide and N-acetyllactosamine oligomer with a lower efficiency. Has weak or no activity toward keratan sulfate and oligosaccharides containing the Galbeta1-4GlcNAc. Catalyzes 6-O-sulfation of beta-benzyl GlcNAc but not alpha- or beta-benzyl GalNAc.',NULL,NULL,NULL,NULL,NULL),(14475,'UniProt Function',NULL,17346,NULL,'Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Transfers sulfate to the C4 hydroxyl of beta1,4-linked GalNAc that is substituted with a beta-linked glucuronic acid at the C-3 hydroxyl. No activity toward dermatan.',NULL,NULL,NULL,NULL,NULL),(14476,'UniProt Function',NULL,17347,NULL,'Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. May decrease the metastatic potential of tumors.',NULL,NULL,NULL,NULL,NULL),(14477,'UniProt Function',NULL,17348,NULL,'May play a role in the suppression of metastatic potential in lung adenoma carcinoma cells.',NULL,NULL,NULL,NULL,NULL),(14478,'UniProt Function',NULL,17355,NULL,'Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and modulating its protein kinase activity (PubMed:27617292). Positively regulates initiation of autophagy by regulating the RAB1A-dependent trafficking of the ATG1/ULK1 kinase complex to the phagophore which leads to autophagosome formation (PubMed:27334615). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131). Plays a role in endosomal trafficking (PubMed:24549040). May be involved in regulating the maturation of phagosomes to lysosomes (By similarity). Regulates actin dynamics in motor neurons by inhibiting the GTP-binding activity of ARF6, leading to ARF6 inactivation (PubMed:27723745). This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to cofilin activation (PubMed:27723745). Positively regulates axon extension and axon growth cone size in spinal motor neurons (PubMed:27723745). Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity (By similarity).',NULL,NULL,NULL,NULL,NULL),(14479,'UniProt Function',NULL,17355,NULL,'Isoform 1: Regulates stress granule assembly in response to cellular stress.',NULL,NULL,NULL,NULL,NULL),(14480,'UniProt Function',NULL,17355,NULL,'Isoform 2: Does not play a role in regulation of stress granule assembly in response to cellular stress.',NULL,NULL,NULL,NULL,NULL),(14481,'UniProt Function',NULL,17356,NULL,'May function as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks.',NULL,NULL,NULL,NULL,NULL),(14482,'UniProt Function',NULL,17358,NULL,'Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:20813266, PubMed:25657325). Also involved in chromosome alignment (PubMed:20813266). May promote centrosome maturation probably by recruiting A-kinase anchor protein AKAP9 to centrosomes in early mitosis (PubMed:25657325). Binds specifically to miRNA MIR145 hairpin, regulates MIR145 expression at a postranscriptional level (PubMed:28431233).',NULL,NULL,NULL,NULL,NULL),(14483,'UniProt Function',NULL,17359,NULL,'Probably functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks.',NULL,NULL,NULL,NULL,NULL),(14484,'UniProt Function',NULL,17361,NULL,'Transcription factor which may be involved in neuroblastoma growth and malignant transformation. Favors nuclear targeting of ARID3A.',NULL,NULL,NULL,NULL,NULL),(14485,'UniProt Function',NULL,17362,NULL,'May play a role in apoptosis. May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(14486,'UniProt Function',NULL,17363,NULL,'Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP) (PubMed:16525022, PubMed:18588884). Required for normal cytokinesis and cilia signaling (PubMed:22085962). Requires assistance from GTPase-activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins such as NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapter into the cilium (PubMed:22085962). Required for PKD1:PKD2 complex targeting from the trans-Golgi network to the cilium (By similarity).',NULL,NULL,NULL,NULL,NULL),(14487,'UniProt Function',NULL,17366,NULL,'GTPase-activating protein for p21-rac. Insufficient expression of beta-2 chimaerin is expected to lead to higher Rac activity and could therefore play a role in the progression from low-grade to high-grade tumors.',NULL,NULL,NULL,NULL,NULL),(14488,'UniProt Function',NULL,17367,NULL,'Regulates mitochondrial transport during axon regeneration. Increases the proportion of motile mitochondria by recruiting stationary mitochondria into the motile pool. Enhances mitochondria movement and neurite growth in both adult axons and embryonic neurons. Promotes neuronal survival and axon regeneration after nerve injury. May link mitochondria to the Trak1-kinesin motor complex via its interaction with MIRO1.',NULL,NULL,NULL,NULL,NULL),(14489,'UniProt Function',NULL,17368,NULL,'May regulate the dynamics and distribution of mitochondria in neural cells.',NULL,NULL,NULL,NULL,NULL),(14490,'UniProt Function',NULL,17371,NULL,'Transcription factor that plays a role in the development of the hypothalamo-pituitary axis, postnatal brain growth, and visual and renal function (PubMed:24022475). Specifically recognizes the xenobiotic response element (XRE).',NULL,NULL,NULL,NULL,NULL),(14491,'UniProt Function',NULL,17372,NULL,'Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form.',NULL,NULL,NULL,NULL,NULL),(14492,'UniProt Function',NULL,17373,NULL,'Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase. May be involved in activation of the SAPK/JNK pathway Stimulates genotoxic stress-induced RHOB activity in breast cancer cells leading to their cell death.',NULL,NULL,NULL,NULL,NULL),(14493,'UniProt Function',NULL,17375,NULL,'GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus (By similarity).',NULL,NULL,NULL,NULL,NULL),(14494,'UniProt Function',NULL,17377,NULL,'May regulate the dynamics and distribution of mitochondria in neural cells.',NULL,NULL,NULL,NULL,NULL),(14495,'UniProt Function',NULL,17378,NULL,'Required for activity of the Ah (dioxin) receptor. This protein is required for the ligand-binding subunit to translocate from the cytosol to the nucleus after ligand binding. The complex then initiates transcription of genes involved in the activation of PAH procarcinogens. The heterodimer binds to core DNA sequence 5\'-TACGTG-3\' within the hypoxia response element (HRE) of target gene promoters and functions as a transcriptional regulator of the adaptive response to hypoxia (By similarity). The heterodimer ARNT:AHR binds to core DNA sequence 5\'-TGCGTG-3\' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28396409).',NULL,NULL,NULL,NULL,NULL),(14496,'UniProt Function',NULL,17379,NULL,'Catalyzes phosphatidylcholine biosynthesis from CDP-choline. It thereby plays a central role in the formation and maintenance of vesicular membranes.',NULL,NULL,NULL,NULL,NULL),(14497,'UniProt Function',NULL,17381,NULL,'Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence 5\'-GGGTGGTC-3\'.',NULL,NULL,NULL,NULL,NULL),(14498,'UniProt Function',NULL,17382,NULL,'Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids. Binds also to the transferrin receptor promoter. Essential auxiliary factor for the replication of parvoviruses.',NULL,NULL,NULL,NULL,NULL),(14499,'UniProt Function',NULL,17383,NULL,'This protein causes differentiation of brain cells, stimulation of neural regeneration, and inhibition of proliferation of tumor cells.',NULL,NULL,NULL,NULL,NULL),(14500,'UniProt Function',NULL,17384,NULL,'May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose.',NULL,NULL,NULL,NULL,NULL),(14501,'UniProt Function',NULL,17385,NULL,'Stimulates, in vitro and in vivo, the GTPase activity of RhoA.',NULL,NULL,NULL,NULL,NULL),(14502,'UniProt Function',NULL,17386,NULL,'Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides (PubMed:12009299, PubMed:12669231, PubMed:16359702, PubMed:22037469). Plays a role in modulating cellular differentiation (PubMed:12669231).',NULL,NULL,NULL,NULL,NULL),(14503,'UniProt Function',NULL,17387,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.',NULL,NULL,NULL,NULL,NULL),(14504,'UniProt Function',NULL,17388,NULL,'Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:8774883, PubMed:18434541, PubMed:19478087). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (PubMed:19478087). Stimulates the activity of receptor-regulated K(+) channels (PubMed:2535845). The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division (PubMed:17635935).',NULL,NULL,NULL,NULL,NULL),(14505,'UniProt Function',NULL,17389,NULL,'Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161).',NULL,NULL,NULL,NULL,NULL),(14506,'UniProt Function',NULL,17390,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity).',NULL,NULL,NULL,NULL,NULL),(14507,'UniProt Function',NULL,17391,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase.',NULL,NULL,NULL,NULL,NULL),(14508,'UniProt Function',NULL,17392,NULL,'Stabilizes TERF1 telomeric association by preventing TERF1 recruitment by PML. Stabilizes TERF1 protein by preventing its ubiquitination and hence proteasomal degradation. Does so by interfering with TERF1-binding to FBXO4 E3 ubiquitin-protein ligase. Required for cell proliferation. By stabilizing TRF1 protein during mitosis, promotes metaphase-to-anaphase transition. Stabilizes MDM2 protein by preventing its ubiquitination, and hence proteasomal degradation. By acting on MDM2, may affect TP53 activity. Required for normal processing of ribosomal pre-rRNA. Binds GTP.',NULL,NULL,NULL,NULL,NULL),(14509,'UniProt Function',NULL,17393,NULL,'Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO.',NULL,NULL,NULL,NULL,NULL),(14510,'UniProt Function',NULL,17394,NULL,'Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing.',NULL,NULL,NULL,NULL,NULL),(14511,'UniProt Function',NULL,17396,NULL,'Seems to trigger calcium oscillations in mammalian eggs. These oscillations serve as the essential trigger for egg activation and early development of the embryo (By similarity).',NULL,NULL,NULL,NULL,NULL),(14512,'UniProt Function',NULL,17398,NULL,'Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment.',NULL,NULL,NULL,NULL,NULL),(14513,'UniProt Function',NULL,17399,NULL,'Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors.',NULL,NULL,NULL,NULL,NULL),(14514,'UniProt Function',NULL,17400,NULL,'May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3\',5\'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation.',NULL,NULL,NULL,NULL,NULL),(14515,'UniProt Function',NULL,17401,NULL,'Putative receptor for gonadotropin releasing hormone II (GnRH II) which is most probably non-functional.',NULL,NULL,NULL,NULL,NULL),(14516,'UniProt Function',NULL,17402,NULL,'Translational regulator that ensures constant high levels of translation upon a variety of stress conditions, such as amino acid starvation, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Plays a role as a negative regulator of the EIF2AK4/GCN2 kinase activity; impairs GCN1-mediated EIF2AK4/GCN2 activation, and hence EIF2AK4/GCN2-mediated eIF-2-alpha phosphorylation and subsequent down-regulation of protein synthesis. May be required to regulate translation in specific neuronal cells under amino acid starvation conditions by preventing GCN2 activation and therefore ATF4 synthesis. Through its inhibitory action on EIF2AK4/GCN2, plays a role in differentiation of neuronal cells by stimulating neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(14517,'UniProt Function',NULL,17405,NULL,'May be involved in maintaining Golgi structure.',NULL,NULL,NULL,NULL,NULL),(14518,'UniProt Function',NULL,17410,NULL,'Involved in maintaining Golgi structure. Stimulates the formation of Golgi stacks and ribbons. Involved in intra-Golgi retrograde transport.',NULL,NULL,NULL,NULL,NULL),(14519,'UniProt Function',NULL,17412,NULL,'Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.',NULL,NULL,NULL,NULL,NULL),(14520,'UniProt Function',NULL,17413,NULL,'Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. GON7 likely plays a supporting role to the catalytic subunit OSGEP in the complex.',NULL,NULL,NULL,NULL,NULL),(14521,'UniProt Function',NULL,17416,NULL,'Associates with IFNAR1 to form the type I interferon receptor. Receptor for interferons alpha and beta. Involved in IFN-mediated STAT1, STAT2 and STAT3 activation (PubMed:26424569). Isoform 1 and isoform 2 are directly involved in signal transduction due to their association with the TYR kinase, JAK1 (PubMed:8181059, PubMed:7665574, PubMed:7759950). Isoform 3 is a potent inhibitor of type I IFN receptor activity (PubMed:7759950).',NULL,NULL,NULL,NULL,NULL),(14522,'UniProt Function',NULL,17418,NULL,'Binds to CDK2-bound cyclins and inhibits the kinase activity of CDK2; binding to cyclins is critical for its function as CDK inhibitor (PubMed:21540187). Inhibits cell growth and cell proliferation and may play a role in cell cycle control (By similarity). Required for ING5-mediated regulation of S-phase progression, enhancement of Fas-induced apoptosis and inhibition of cell growth (By similarity).',NULL,NULL,NULL,NULL,NULL),(14523,'UniProt Function',NULL,17419,NULL,'Orphan receptor. Seems to act through a G(q/11)-mediated pathway.',NULL,NULL,NULL,NULL,NULL),(14524,'UniProt Function',NULL,17420,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14525,'UniProt Function',NULL,17421,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14526,'UniProt Function',NULL,17422,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14527,'UniProt Function',NULL,17423,NULL,'Putative receptor for purines coupled to G-proteins.',NULL,NULL,NULL,NULL,NULL),(14528,'UniProt Function',NULL,17424,NULL,'Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins.',NULL,NULL,NULL,NULL,NULL),(14529,'UniProt Function',NULL,17425,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14530,'UniProt Function',NULL,17426,NULL,'Orphan receptor, involved in vision. Required for signal transduction through retinal depolarizing bipolar cells.',NULL,NULL,NULL,NULL,NULL),(14531,'UniProt Function',NULL,17428,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14532,'UniProt Function',NULL,17429,NULL,'Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins.',NULL,NULL,NULL,NULL,NULL),(14533,'UniProt Function',NULL,17430,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14534,'UniProt Function',NULL,17431,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14535,'UniProt Function',NULL,17432,NULL,'Key negative regulator of Shh signaling, which promotes the processing of GLI3 into GLI3R during neural tube development. Recruited by TULP3 and the IFT-A complex to primary cilia and acts as a regulator of the PKA-dependent basal repression machinery in Shh signaling by increasing cAMP levels, leading to promote the PKA-dependent processing of GLI3 into GLI3R and repress the Shh signaling. In presence of SHH, it is removed from primary cilia and is internalized into recycling endosomes, preventing its activity and allowing activation of the Shh signaling. Its ligand is unknown (By similarity).',NULL,NULL,NULL,NULL,NULL),(14536,'UniProt Function',NULL,17433,NULL,'Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate.',NULL,NULL,NULL,NULL,NULL),(14537,'UniProt Function',NULL,17434,NULL,'ATPase component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and DNA repair (PubMed:16230350, PubMed:16298340, PubMed:17721549, PubMed:20855601, PubMed:20237820). Binds DNA (PubMed:16298340, PubMed:21303910). As part of the INO80 complex, remodels chromatin by shifting nucleosomes (PubMed:16230350, PubMed:21303910). Regulates transcription upon recruitment by YY1 to YY1-activated genes, where it acts as an essential coactivator (PubMed:17721549). Involved in UV-damage excision DNA repair (PubMed:20855601). The contribution to DNA double-strand break repair appears to be largely indirect through transcriptional regulation (PubMed:20687897). Involved in DNA replication (PubMed:20237820). Required for microtubule assembly during mitosis thereby regulating chromosome segregation cycle (PubMed:20237820).',NULL,NULL,NULL,NULL,NULL),(14538,'UniProt Function',NULL,17435,NULL,'This retinoic acid-inducible G-protein coupled receptor provide evidence for a possible interaction between retinoid and G-protein signaling pathways.',NULL,NULL,NULL,NULL,NULL),(14539,'UniProt Function',NULL,17437,NULL,'Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate and inositol 3,4-bisphosphate.',NULL,NULL,NULL,NULL,NULL),(14540,'UniProt Function',NULL,17438,NULL,'Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity). Enhances migration and invasion of cancer cells through WNT5A signaling.',NULL,NULL,NULL,NULL,NULL),(14541,'UniProt Function',NULL,17439,NULL,'Receptor for bile acid. Bile acid-binding induces its internalization, activation of extracellular signal-regulated kinase and intracellular cAMP production. May be involved in the suppression of macrophage functions by bile acids.',NULL,NULL,NULL,NULL,NULL),(14542,'UniProt Function',NULL,17440,NULL,'Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes.',NULL,NULL,NULL,NULL,NULL),(14543,'UniProt Function',NULL,17441,NULL,'Voltage dependent anion channel required for acidification and functions of the Golgi apparatus that may function in counter-ion conductance.',NULL,NULL,NULL,NULL,NULL),(14544,'UniProt Function',NULL,17442,NULL,'Involved in neuronal differentiation, including differentiation and migration of neuronal stem cells. Plays a role in neuronal plasticity and is involved in neurite and filopodia outgrowth, filopodia motility and probably synapse formation. GPM6A-induced filopodia formation involves mitogen-activated protein kinase (MAPK) and Src signaling pathways. May be involved in neuronal NGF-dependent Ca(2+) influx. May be involved in regulation of endocytosis and intracellular trafficking of G-protein-coupled receptors (GPCRs); enhances internalization and recycling of mu-type opioid receptor.',NULL,NULL,NULL,NULL,NULL),(14545,'UniProt Function',NULL,17443,NULL,'Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(14546,'UniProt Function',NULL,17445,NULL,'Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. Binds to CPEB3 and mediates its nuclear import following neuronal stimulation (By similarity). In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev.',NULL,NULL,NULL,NULL,NULL),(14547,'UniProt Function',NULL,17446,NULL,'Inhibitor of protein-phosphatase 1.',NULL,NULL,NULL,NULL,NULL),(14548,'UniProt Function',NULL,17447,NULL,'Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate oxidizes D-glycerate to hydroxypyruvate.',NULL,NULL,NULL,NULL,NULL),(14549,'UniProt Function',NULL,17448,NULL,'Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5\'-AACCGGTT-3\' (PubMed:12175488, PubMed:18288204, PubMed:29309642). Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity during epithelia development (By similarity).',NULL,NULL,NULL,NULL,NULL),(14550,'UniProt Function',NULL,17448,NULL,'Isoform 1: Functions as transcription activator.',NULL,NULL,NULL,NULL,NULL),(14551,'UniProt Function',NULL,17448,NULL,'Isoform 2: May function as a repressor in tissues where both isoform 1 and isoform 2 are expressed.',NULL,NULL,NULL,NULL,NULL),(14552,'UniProt Function',NULL,17449,NULL,'Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate.',NULL,NULL,NULL,NULL,NULL),(14553,'UniProt Function',NULL,17450,NULL,'Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists.',NULL,NULL,NULL,NULL,NULL),(14554,'UniProt Function',NULL,17451,NULL,'Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. Promotes synaptogenesis and mediates the D-Serine-dependent long term depression signals and AMPA receptor endocytosis of cerebellar parallel fiber-Purkinje cell (PF-PC) synapses through the beta-NRX1-CBLN1-GRID2 triad complex (PubMed:27418511).',NULL,NULL,NULL,NULL,NULL),(14555,'UniProt Function',NULL,17452,NULL,'G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system. May participate in the central action of glutamate in the CNS, such as long-term potentiation in the hippocampus and long-term depression in the cerebellum.',NULL,NULL,NULL,NULL,NULL),(14556,'UniProt Function',NULL,17453,NULL,'Transcriptional activator. Binds to the interferon-stimulated response element (ISRE) of the MHC class I promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in ISRE-targeted signal transduction mechanisms specific to lymphoid cells. Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5\'-TGAnTCA/GAAA-3\'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF4 and activation of genes (By similarity).',NULL,NULL,NULL,NULL,NULL),(14557,'UniProt Function',NULL,17454,NULL,'Involved in the inhibition of the inflammatory response. Acts as a negative regulator of the Toll-like receptors (TLRs)-mediated inflammatory innate response by stimulating the tumor necrosis factor alpha-induced protein TNFAIP3 expression via reactive oxygen species (ROS) in LPS-tolerized macrophages. Involved in antimicrobial response of innate immune cells; ACOD1-mediated itaconic acid production contributes to the antimicrobial activity of macrophages. Plays a role in the embryo implantation.',NULL,NULL,NULL,NULL,NULL),(14558,'UniProt Function',NULL,17455,NULL,'May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel (PubMed:12783849). May activate the MAP kinase JNK (PubMed:15123616). Plays a role in neurite outgrowth (By similarity). During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity).',NULL,NULL,NULL,NULL,NULL),(14559,'UniProt Function',NULL,17457,NULL,'May mediate the control of various cellular processes by insulin. When phosphorylated by the insulin receptor binds specifically to various cellular proteins containing SH2 domains such as phosphatidylinositol 3-kinase p85 subunit or GRB2. Activates phosphatidylinositol 3-kinase when bound to the regulatory p85 subunit (By similarity).',NULL,NULL,NULL,NULL,NULL),(14560,'UniProt Function',NULL,17458,NULL,'May mediate the control of various cellular processes by insulin.',NULL,NULL,NULL,NULL,NULL),(14561,'UniProt Function',NULL,17459,NULL,'Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2 domains. Involved in the IGF1R mitogenic signaling pathway. Promotes the AKT1 signaling pathway and BAD phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis. Interaction with GRB2 enhances insulin-stimulated mitogen-activated protein kinase activity. May be involved in nonreceptor tyrosine kinase signaling in myoblasts. Plays a pivotal role in the proliferation/differentiation of hepatoblastoma cell through EPHB2 activation upon IGF1 stimulation. May play a role in the signal transduction in response to insulin and to a lesser extent in response to IL4 and GH on mitogenesis. Plays a role in growth, reproduction and glucose homeostasis. May act as negative regulators of the IGF1 signaling pathway by suppressing the function of IRS1 and IRS2.',NULL,NULL,NULL,NULL,NULL),(14562,'UniProt Function',NULL,17462,NULL,'Transcription factor involved in SHH-dependent neural patterning. Together with NKX2-2 and NKX6-1 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class I proteins of neuronal progenitor factors, which are repressed by SHH signals. Involved in the transcriptional repression of MNX1 in non-motor neuron cells. Acts as a regulator of energy metabolism.',NULL,NULL,NULL,NULL,NULL),(14563,'UniProt Function',NULL,17463,NULL,'Likely to be an important mediator of ventricular differentiation during cardiac development.',NULL,NULL,NULL,NULL,NULL),(14564,'UniProt Function',NULL,17464,NULL,'Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12.',NULL,NULL,NULL,NULL,NULL),(14565,'UniProt Function',NULL,17466,NULL,'May promote pyroptosis (Probable). Upon cleavage in vitro of genetically engineered GSDMA, the released N-terminal moiety binds to some types of lipids, such as possibly phosphatidylinositol (4,5)-bisphosphate. Homooligomerizes within the membrane and forms pores of 10 -15 nanometers (nm) of inner diameter, triggering cell death. Also binds to bacterial and mitochondrial lipids, including cardiolipin, and exhibits bactericidal activity (PubMed:27281216). The physiological relevance of these observations is unknown (Probable).',NULL,NULL,NULL,NULL,NULL),(14566,'UniProt Function',NULL,17467,NULL,'May participate in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks.',NULL,NULL,NULL,NULL,NULL),(14567,'UniProt Function',NULL,17468,NULL,'Involved in transcription repression and activation. Its interaction with HDAC2 may provide a mechanism for histone deacetylation in heterochromatin following replication of DNA at late firing origins. Can also repress transcription independently of histone deacetylase activity. May specifically potentiate DAXX-mediated repression of glucocorticoid receptor-dependent transcription. Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Participates in the nuclear localization of URI1 and increases its transcriptional corepressor activity.',NULL,NULL,NULL,NULL,NULL),(14568,'UniProt Function',NULL,17469,NULL,'Regulates endothelial chemotaxis and tube formation. Has a role in angiogenesis and apoptosis via modulation of the actin cytoskeleton and facilitation of proteasomal degradation of the apoptosis inhibitors BIRC3/IAP1 and BIRC2/IAP2.',NULL,NULL,NULL,NULL,NULL),(14569,'UniProt Function',NULL,17470,NULL,'Adapter protein of the Toll-like and IL-1 receptor signaling pathway that is involved in the activation of NF-kappa-B via MAP3K1. Promotes proteolytic activation of MAP3K1. Involved in the BMP signaling pathway. Required for normal embryonic development (By similarity).',NULL,NULL,NULL,NULL,NULL),(14570,'UniProt Function',NULL,17470,NULL,'Required for efficient assembly of mitochondrial NADH:ubiquinone oxidoreductase.',NULL,NULL,NULL,NULL,NULL),(14571,'UniProt Function',NULL,17471,NULL,'May act as a guanine nucleotide exchange factor (GEF).',NULL,NULL,NULL,NULL,NULL),(14572,'UniProt Function',NULL,17472,NULL,'Guanine nucleotide exchange factor (GEF) that catalyzes the exchange of GDP for GTP. Promotes guanine nucleotide exchange on the Rho family members of small GTPases, like RHOA, RHOC, RAC1 and CDC42. Required for signal transduction pathways involved in the regulation of cytokinesis. Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Regulates the translocation of RHOA from the central spindle to the equatorial region. Plays a role in the control of mitotic spindle assembly; regulates the activation of CDC42 in metaphase for the process of spindle fibers attachment to kinetochores before chromosome congression. Involved in the regulation of epithelial cell polarity; participates in the formation of epithelial tight junctions in a polarity complex PARD3-PARD6-protein kinase PRKCQ-dependent manner. Plays a role in the regulation of neurite outgrowth. Inhibits phenobarbital (PB)-induced NR1I3 nuclear translocation. Stimulates the activity of RAC1 through its association with the oncogenic PARD6A-PRKCI complex in cancer cells, thereby acting to coordinately drive tumor cell proliferation and invasion. Also stimulates genotoxic stress-induced RHOB activity in breast cancer cells leading to their cell death.',NULL,NULL,NULL,NULL,NULL),(14573,'UniProt Function',NULL,17473,NULL,'The glycine cleavage system catalyzes the degradation of glycine.',NULL,NULL,NULL,NULL,NULL),(14574,'UniProt Function',NULL,17474,NULL,'Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B.',NULL,NULL,NULL,NULL,NULL),(14575,'UniProt Function',NULL,17475,NULL,'Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death.',NULL,NULL,NULL,NULL,NULL),(14576,'UniProt Function',NULL,17476,NULL,'Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:8696334, PubMed:11039935, PubMed:27144394). May also play a role in cell adhesion (By similarity).',NULL,NULL,NULL,NULL,NULL),(14577,'UniProt Function',NULL,17476,NULL,'Isoform 1: Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R.',NULL,NULL,NULL,NULL,NULL),(14578,'UniProt Function',NULL,17476,NULL,'Isoform 3: Binds only to the receptor EDA2R.',NULL,NULL,NULL,NULL,NULL),(14579,'UniProt Function',NULL,17477,NULL,'Binds single-stranded RNA. Involved in the process of mRNA degradation and in the positive regulation of mRNA decapping. May play a role in spermiogenesis and oogenesis.',NULL,NULL,NULL,NULL,NULL),(14580,'UniProt Function',NULL,17478,NULL,'Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded glycoproteins for degradation in an N-glycan-independent manner, probably by forming a complex with SEL1L. It has low mannosidase activity, catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2.',NULL,NULL,NULL,NULL,NULL),(14581,'UniProt Function',NULL,17479,NULL,'Endothelins are endothelium-derived vasoconstrictor peptides.',NULL,NULL,NULL,NULL,NULL),(14582,'UniProt Function',NULL,17480,NULL,'Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3.',NULL,NULL,NULL,NULL,NULL),(14583,'UniProt Function',NULL,17481,NULL,'Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(14584,'UniProt Function',NULL,17482,NULL,'This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. With PARP1 and TXK, forms a complex that acts as a T helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFN-gamma to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production.',NULL,NULL,NULL,NULL,NULL),(14585,'UniProt Function',NULL,17483,NULL,'Has guanylyl cyclase on binding to the beta-1 subunit.',NULL,NULL,NULL,NULL,NULL),(14586,'UniProt Function',NULL,17483,NULL,'Isoform 2 acts as a negative regulator of guanylyl cyclase activity as it forms non-functional heterodimers with the beta subunits.',NULL,NULL,NULL,NULL,NULL),(14587,'UniProt Function',NULL,17484,NULL,'Mediates responses to nitric oxide (NO) by catalyzing the biosynthesis of the signaling molecule cGMP.',NULL,NULL,NULL,NULL,NULL),(14588,'UniProt Function',NULL,17485,NULL,'This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.',NULL,NULL,NULL,NULL,NULL),(14589,'UniProt Function',NULL,17486,NULL,'Regulates the mitochondrial network by promoting mitochondrial fission.',NULL,NULL,NULL,NULL,NULL),(14590,'UniProt Function',NULL,17487,NULL,'EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP.',NULL,NULL,NULL,NULL,NULL),(14591,'UniProt Function',NULL,17488,NULL,'Required for the accumulation of coenzyme A in the mitochondrial matrix.',NULL,NULL,NULL,NULL,NULL),(14592,'UniProt Function',NULL,17489,NULL,'Regulates food intake, energy expenditure and body weight in response to metabolic and toxin-induced stresses (PubMed:28953886, PubMed:28846097, PubMed:28846098, PubMed:28846099, PubMed:23468844, PubMed:29046435). Binds to its receptor, GFRAL, and activates GFRAL-expressing neurons localized in the area postrema and nucleus tractus solitarius of the brainstem (PubMed:28953886, PubMed:28846097, PubMed:28846098, PubMed:28846099). It then triggers the activation of neurons localized within the parabrachial nucleus and central amygdala, which contitutes part of the \'emergency circuit\' that shapes feeding responses to stressful conditions (PubMed:28953886). On hepatocytes, inhibits growth hormone signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(14593,'UniProt Function',NULL,17490,NULL,'Probably plays a role in anchoring the complex to other cellular components.',NULL,NULL,NULL,NULL,NULL),(14594,'UniProt Function',NULL,17491,NULL,'Threonine kinase that regulates protein synthesis by controlling the rate of peptide chain elongation. Upon activation by a variety of upstream kinases including AMPK or TRPM7, phosphorylates the elongation factor EEF2 at a single site, renders it unable to bind ribosomes and thus inactive. In turn, the rate of protein synthesis is reduced.',NULL,NULL,NULL,NULL,NULL),(14595,'UniProt Function',NULL,17492,NULL,'May mediate cell differentiation events during embryonic development.',NULL,NULL,NULL,NULL,NULL),(14596,'UniProt Function',NULL,17493,NULL,'Growth factor involved in early embryonic development and adipose-tissue homeostasis. During embryogenesis controls formation of anterior visceral endoderm and mesoderm and the establishment of anterior-posterior identity through a receptor complex comprising the receptor ACVR1B and the coreceptor TDGF1/Cripto (By similarity). Regulates adipose-tissue homeostasis and energy balance under nutrient overload in part by signaling through the receptor complex based on ACVR1C and TDGF1/Cripto (PubMed:21805089).',NULL,NULL,NULL,NULL,NULL),(14597,'UniProt Function',NULL,17499,NULL,'Required for ovarian folliculogenesis. Promotes primordial follicle development. Stimulates granulosa cell proliferation. Promotes cell transition from G0/G1 to S and G2/M phases, through an increase of CCND1 and CCNE1 expression, and RB1 phosphorylation. It regulates STAR expression and cAMP-dependent progesterone release in granulosa and thecal cells. Attenuates the suppressive effects of activin A on STAR expression and progesterone production by increasing the expression of inhibin B. It suppresses FST and FSTL3 production in granulosa-lutein cells.',NULL,NULL,NULL,NULL,NULL),(14598,'UniProt Function',NULL,17500,NULL,'Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes.',NULL,NULL,NULL,NULL,NULL),(14599,'UniProt Function',NULL,17501,NULL,'Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them.',NULL,NULL,NULL,NULL,NULL),(14600,'UniProt Function',NULL,17502,NULL,'Inhibits GDP/GTP exchange reaction of RhoB. Interacts specifically with the GDP- and GTP-bound forms of post-translationally processed Rhob and Rhog proteins, both of which show a growth-regulated expression in mammalian cells. Stimulates the release of the GDP-bound but not the GTP-bound RhoB protein. Also inhibits the GDP/GTP exchange of RhoB but shows less ability to inhibit the dissociation of prebound GTP.',NULL,NULL,NULL,NULL,NULL),(14601,'UniProt Function',NULL,17503,NULL,'Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.',NULL,NULL,NULL,NULL,NULL),(14602,'UniProt Function',NULL,17504,NULL,'Has glycerophosphoinositol inositolphosphodiesterase activity and specifically hydrolyzes glycerophosphoinositol, with no activity for other substrates such as glycerophosphoinositol 4-phosphate, glycerophosphocholine, glycerophosphoethanolamine, and glycerophosphoserine. Accelerates the program of osteoblast differentiation and growth. May play a role in remodeling of the actin cytoskeleton (By similarity).',NULL,NULL,NULL,NULL,NULL),(14603,'UniProt Function',NULL,17505,NULL,'Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Shows a preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) and lysophosphatidylcholine (lyso-PC), and to a lesser extent for lysophosphatidylethanolamine (lyso-PE). Does not display glycerophosphodiester phosphodiesterase activity, since it cannot hydrolyze either glycerophosphoinositol or glycerophosphocholine.',NULL,NULL,NULL,NULL,NULL),(14604,'UniProt Function',NULL,17507,NULL,'Glycerophosphodiester phosphodiesterase that promotes neurite formation and drives spinal motor neuron differentiation (By similarity). Mediates the cleavage of glycosylphosphatidylinositol (GPI) anchor of target proteins: removes the GPI-anchor of RECK, leading to release RECK from the plasma membrane (By similarity). May contribute to the osmotic regulation of cellular glycerophosphocholine (By similarity).',NULL,NULL,NULL,NULL,NULL),(14605,'UniProt Function',NULL,17508,NULL,'Specific and highly efficient GDP-D-glucose phosphorylase regulating the levels of GDP-D-glucose in cells.',NULL,NULL,NULL,NULL,NULL),(14606,'UniProt Function',NULL,17509,NULL,'Stimulates GDP/GTP exchange reaction of a group of small GTP-binding proteins (G proteins) including Rap1a/Rap1b, RhoA, RhoB and KRas, by stimulating the dissociation of GDP from and the subsequent binding of GTP to each small G protein.',NULL,NULL,NULL,NULL,NULL),(14607,'UniProt Function',NULL,17511,NULL,'Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581).',NULL,NULL,NULL,NULL,NULL),(14608,'UniProt Function',NULL,17512,NULL,'Regulator of DNA replication. Promotes initiation of chromosomal DNA replication by mediating TOPBP1- and CDK2-dependent recruitment of CDC45L onto replication origins (By similarity).',NULL,NULL,NULL,NULL,NULL),(14609,'UniProt Function',NULL,17513,NULL,'Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at \'Lys-318\'.',NULL,NULL,NULL,NULL,NULL),(14610,'UniProt Function',NULL,17514,NULL,'The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus.',NULL,NULL,NULL,NULL,NULL),(14611,'UniProt Function',NULL,17515,NULL,'Protein-lysine methyltransferase that efficiently catalyzes three successive methylations on \'Lys-36\' in eukaryotic translation elongation factor 1 alpha (EEF1A1 or EEF1A2).',NULL,NULL,NULL,NULL,NULL),(14612,'UniProt Function',NULL,17516,NULL,'Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. Plays an important role in angiogenesis and tumor neovascularization. The recruitment of VAV2, VAV3 and PI3-kinase p85 subunit by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly. Exerts anti-oncogenic effects in tumor cells through activation and down-regulation of EPHA2. Activates EPHA2 by inducing tyrosine phosphorylation which leads to its internalization and degradation. Acts as a negative regulator in the tumorigenesis of gliomas by down-regulating EPHA2 and FAK. Can evoke collapse of embryonic neuronal growth cone and regulates dendritic spine morphogenesis.',NULL,NULL,NULL,NULL,NULL),(14613,'UniProt Function',NULL,17517,NULL,'Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. With the EPHA2 receptor may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(14614,'UniProt Function',NULL,17518,NULL,'Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(14615,'UniProt Function',NULL,17519,NULL,'Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. May play a role in the interaction between activated B-lymphocytes and dendritic cells in tonsils.',NULL,NULL,NULL,NULL,NULL),(14616,'UniProt Function',NULL,17520,NULL,'As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20676083, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20676083, PubMed:28104892, PubMed:25535373). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome (PubMed:28104892). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303).',NULL,NULL,NULL,NULL,NULL),(14617,'UniProt Function',NULL,17521,NULL,'GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells.',NULL,NULL,NULL,NULL,NULL),(14618,'UniProt Function',NULL,17522,NULL,'Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation. Transcriptional repressor or activator depending on both promoter and cell type context; represses promoter activity of SOCS1 and SOCS3 and thus, may regulate cytokine signaling pathways. Cooperates with GATA1 to repress target gene transcription, such as the apoptosis regulator BCL2L1; GFI1B silencing in leukemic cell lines markedly increase apoptosis rate. Inhibits down-regulation of MYC and MYB as well as the cyclin-dependent kinase inhibitor CDKN1A/P21WAF1 in IL6-treated myelomonocytic cells. Represses expression of GATA3 in T-cell lymphomas and inhibits GATA1-mediated transcription; as GATA1 also mediates erythroid GFI1B transcription, both GATA1 and GFI1B participate in a feedback regulatory pathway controlling the expression of GFI1B gene in erythroid cells. Suppresses GATA1-mediated stimulation of GFI1B promoter through protein interaction. Binds to gamma-satellite DNA and to its own promoter, auto-repressing its own expression. Alters histone methylation by recruiting histone methyltransferase to target genes promoters. Plays a role in heterochromatin formation.',NULL,NULL,NULL,NULL,NULL),(14619,'UniProt Function',NULL,17524,NULL,'May cause the redistribution of PAPOLB from the cytosol to the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(14620,'UniProt Function',NULL,17526,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.',NULL,NULL,NULL,NULL,NULL),(14621,'UniProt Function',NULL,17527,NULL,'Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-type current. May associate with HCN1 and HCN2 and increase potassium current. Interacts with KCNQ1; forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505).',NULL,NULL,NULL,NULL,NULL),(14622,'UniProt Function',NULL,17528,NULL,'A-kinase anchoring protein for GSK3B and PKA that regulates or facilitates their kinase activity towards their targets (PubMed:27484798, PubMed:25920809, PubMed:16981698). The ternary complex enhances Wnt-induced signaling by facilitating the GSK3B- and PKA-induced phosphorylation of beta-catenin leading to beta-catenin degradation and stabilization respectively (PubMed:27484798, PubMed:16981698). Upon cAMP activation, the ternary complex contributes to neuroprotection against oxidative stress-induced apoptosis by facilitating the PKA-induced phosphorylation of DML1 and PKA-induced inactivation of GSK3B (PubMed:25920809). During neurite outgrowth promotes neuron proliferation; while increases beta-catenin-induced transcriptional activity through GSK3B kinase activity inhibition, reduces N-cadherin level to promote cell cycle progression (PubMed:19830702).',NULL,NULL,NULL,NULL,NULL),(14623,'UniProt Function',NULL,17529,NULL,'Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:12954870). Associated with KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may form the intestinal cAMP-stimulated potassium channel involved in chloride secretion that produces a current with nearly instantaneous activation with a linear current-voltage relationship.',NULL,NULL,NULL,NULL,NULL),(14624,'UniProt Function',NULL,17530,NULL,'Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 (PubMed:19074135).',NULL,NULL,NULL,NULL,NULL),(14625,'UniProt Function',NULL,17532,NULL,'Facilitative glucose transporter.',NULL,NULL,NULL,NULL,NULL),(14626,'UniProt Function',NULL,17534,NULL,'Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit assembly.',NULL,NULL,NULL,NULL,NULL),(14627,'UniProt Function',NULL,17535,NULL,'Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly.',NULL,NULL,NULL,NULL,NULL),(14628,'UniProt Function',NULL,17536,NULL,'This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This receptor plays a crucial role in regulating the heartbeat.',NULL,NULL,NULL,NULL,NULL),(14629,'UniProt Function',NULL,17537,NULL,'This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium (By similarity).',NULL,NULL,NULL,NULL,NULL),(14630,'UniProt Function',NULL,17538,NULL,'This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium (By similarity).',NULL,NULL,NULL,NULL,NULL),(14631,'UniProt Function',NULL,17539,NULL,'Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low and inhibits guanylyl cyclases when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of guanylyl cyclase (GC) is a key event in recovery of the dark state of rod photoreceptors following light exposure.',NULL,NULL,NULL,NULL,NULL),(14632,'UniProt Function',NULL,17540,NULL,'Enhances bone morphogenetic protein (BMP) signaling in a paracrine manner. In contrast, it inhibits both the activin-A and TGFB1-mediated signaling pathways (By similarity).',NULL,NULL,NULL,NULL,NULL),(14633,'UniProt Function',NULL,17541,NULL,'Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.',NULL,NULL,NULL,NULL,NULL),(14634,'UniProt Function',NULL,17542,NULL,'Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.',NULL,NULL,NULL,NULL,NULL),(14635,'UniProt Function',NULL,17543,NULL,'Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner.',NULL,NULL,NULL,NULL,NULL),(14636,'UniProt Function',NULL,17547,NULL,'Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.',NULL,NULL,NULL,NULL,NULL),(14637,'UniProt Function',NULL,17548,NULL,'Transcriptional repressor that binds the GZF1 responsive element (GRE) (consensus: 5\'-TGCGCN[TG][CA]TATA-3\'). May be regulating VSX2/HOX10 expression.',NULL,NULL,NULL,NULL,NULL),(14638,'UniProt Function',NULL,17549,NULL,'Essential for normal spermatogenesis and male fertility (PubMed:16533358). Required for proper cell restructuring and DNA condensation during the elongation phase of spermiogenesis. Involved in the histone-protamine transition of sperm chromatin and the subsequent production of functional sperm. Binds both double-stranded and single-stranded DNA, ATP and protamine-1.',NULL,NULL,NULL,NULL,NULL),(14639,'UniProt Function',NULL,17550,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14640,'UniProt Function',NULL,17551,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14641,'UniProt Function',NULL,17552,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14642,'UniProt Function',NULL,17553,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14643,'UniProt Function',NULL,17554,NULL,'Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes and associate with the elongating form of RNA polymerase. They associate with spliceosome components and are required for mRNA splicing. May participate in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(14644,'UniProt Function',NULL,17555,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14645,'UniProt Function',NULL,17555,NULL,'Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid.',NULL,NULL,NULL,NULL,NULL),(14646,'UniProt Function',NULL,17556,NULL,'Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.',NULL,NULL,NULL,NULL,NULL),(14647,'UniProt Function',NULL,17557,NULL,'Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.',NULL,NULL,NULL,NULL,NULL),(14648,'UniProt Function',NULL,17558,NULL,'6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3\'-phosphoadenosine 5\'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate.',NULL,NULL,NULL,NULL,NULL),(14649,'UniProt Function',NULL,17559,NULL,'RNA-binding protein that plays a role in the regulation of transcription, pre-mRNA splicing and mRNA translation (PubMed:14699138, PubMed:16455055, PubMed:19523114, PubMed:21771594). Negatively regulates DNA-binding activity of the transcription factor MEF2C in myocardial cells in response to mechanical stress (By similarity). Plays a role in pre-mRNA splicing regulation (PubMed:19523114). Binds (via C-terminus) to poly(U) RNA (PubMed:19523114). Involved in mRNA translation regulation, probably at the initiation step (PubMed:21771594).',NULL,NULL,NULL,NULL,NULL),(14650,'UniProt Function',NULL,17560,NULL,'Isoform 1: Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.',NULL,NULL,NULL,NULL,NULL),(14651,'UniProt Function',NULL,17560,NULL,'Isoform 2: In tooth development, may play a role in the recruitment and the differentiation of cells that contribute to cementum formation. May also bind hydroxyapatite and regulate its crystal nucleation to form cementum.',NULL,NULL,NULL,NULL,NULL),(14652,'UniProt Function',NULL,17561,NULL,'The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin.',NULL,NULL,NULL,NULL,NULL),(14653,'UniProt Function',NULL,17562,NULL,'E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens. May also act as a transcription regulator via its interaction with RARB.',NULL,NULL,NULL,NULL,NULL),(14654,'UniProt Function',NULL,17564,NULL,'Receptor for 3-OH-octanoid acid mediates a negative feedback regulation of adipocyte lipolysis to counteract prolipolytic influences under conditions of physiological or pathological increases in beta-oxidation rates. Acts as a low affinity receptor for nicotinic acid. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet.',NULL,NULL,NULL,NULL,NULL),(14655,'UniProt Function',NULL,17565,NULL,'Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK. Widely used as target of antiviral and chemotherapeutic agents.',NULL,NULL,NULL,NULL,NULL),(14656,'UniProt Function',NULL,17566,NULL,'Substrate of the antigen receptor-coupled tyrosine kinase. Plays a role in antigen receptor signaling for both clonal expansion and deletion in lymphoid cells. May also be involved in the regulation of gene expression.',NULL,NULL,NULL,NULL,NULL),(14657,'UniProt Function',NULL,17567,NULL,'Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions (PubMed:28086084). Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). May mediate responses to sour stimuli.',NULL,NULL,NULL,NULL,NULL),(14658,'UniProt Function',NULL,17568,NULL,'Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Can also transport ammonium in the distal nephron. Produces a large instantaneous current. Modulated by intracellular chloride ions and pH; acidic pH shifts the activation to more negative voltages (By similarity).',NULL,NULL,NULL,NULL,NULL),(14659,'UniProt Function',NULL,17569,NULL,'Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity.',NULL,NULL,NULL,NULL,NULL),(14660,'UniProt Function',NULL,17570,NULL,'Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.',NULL,NULL,NULL,NULL,NULL),(14661,'UniProt Function',NULL,17572,NULL,'Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility.',NULL,NULL,NULL,NULL,NULL),(14662,'UniProt Function',NULL,17574,NULL,'Involved in cellular growth control, through the regulation of cyclin D1 expression.',NULL,NULL,NULL,NULL,NULL),(14663,'UniProt Function',NULL,17575,NULL,'Transcriptional repressor which binds to the consensus sequence 5\'-GGTGTG-3\'. Plays a role in the regulation of the circadian clock; binds to the GC box sequence in the promoter of the core clock component ARTNL/BMAL1 and represses its transcriptional activity. Regulates the circadian expression of genes involved in lipogenesis, gluconeogenesis, and glycolysis in the liver. Represses the expression of PCK2, a rate-limiting step enzyme of gluconeogenesis (By similarity). May play a role in the cell cycle regulation.',NULL,NULL,NULL,NULL,NULL),(14664,'UniProt Function',NULL,17576,NULL,'Dephosphorylates pseudouridine 5\'-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine.',NULL,NULL,NULL,NULL,NULL),(14665,'UniProt Function',NULL,17578,NULL,'Transcription factor that binds GC and GT boxes and displaces Sp1 and Sp3 from these sequences. Modulates dopaminergic transmission in the brain (By similarity).',NULL,NULL,NULL,NULL,NULL),(14666,'UniProt Function',NULL,17579,NULL,'Transcription factor that binds to the CACCC box in the promoter of target genes such as HBB/beta globin or NOV and activates their transcription.',NULL,NULL,NULL,NULL,NULL),(14667,'UniProt Function',NULL,17580,NULL,'Required during prometaphase for centrosome maturation. Following poly-ADP-ribosylation (PARsylation) by TNKS, translocates from the Golgi apparatus to mitotic centrosomes and plays a key role in the formation of robust microtubules for prompt movement of chromosomes: anchors AKAP9/CG-NAP, a scaffold protein of the gamma-tubulin ring complex and promotes centrosome maturation.',NULL,NULL,NULL,NULL,NULL),(14668,'UniProt Function',NULL,17581,NULL,'Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation.',NULL,NULL,NULL,NULL,NULL),(14669,'UniProt Function',NULL,17582,NULL,'Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.',NULL,NULL,NULL,NULL,NULL),(14670,'UniProt Function',NULL,17583,NULL,'Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I.',NULL,NULL,NULL,NULL,NULL),(14671,'UniProt Function',NULL,17585,NULL,'5\'-3\' DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection (PubMed:25617833, PubMed:26774285). Recruitment to single-stranded DNA (ssDNA) following DNA damage leads to inhibit the nucleases catalyzing resection, such as EXO1, BLM and DNA2, possibly via the 5\'-3\' ssDNA translocase activity of HELB (PubMed:26774285). As cells approach S phase, DNA end resection is promoted by the nuclear export of HELB following phosphorylation (PubMed:26774285). Acts independently of TP53BP1 (PubMed:26774285). Unwinds duplex DNA with 5\'-3\' polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates (PubMed:12181327). During S phase, may facilitate cellular recovery from replication stress (PubMed:22194613).',NULL,NULL,NULL,NULL,NULL),(14672,'UniProt Function',NULL,17588,NULL,'Antigen, recognized on melanoma by autologous cytolytic T-lymphocytes. Completely silent in normal adult tissues, except testis.',NULL,NULL,NULL,NULL,NULL),(14673,'UniProt Function',NULL,17590,NULL,'Cytoplasmic poly(A) RNA polymerase that adds successive AMP monomers to the 3\'-end of specific RNAs, forming a poly(A) tail. In contrast to the canonical nuclear poly(A) RNA polymerase, it only adds poly(A) to selected cytoplasmic mRNAs (PubMed:15070731). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Adds a single nucleotide to the 3\' end of specific miRNAs, monoadenylation stabilizes and prolongs the activity of some but not all miRNAs (PubMed:23200856).',NULL,NULL,NULL,NULL,NULL),(14674,'UniProt Function',NULL,17592,NULL,'Voltage dependent anion channel required for acidification and functions of the Golgi apparatus that may function in counter-ion conductance.',NULL,NULL,NULL,NULL,NULL),(14675,'UniProt Function',NULL,17593,NULL,'Key transcriptional regulator of type I interferon (IFN)-dependent immune responses which plays a critical role in the innate immune response against DNA and RNA viruses. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters. Acts as a more potent activator of the IFN-beta (IFNB) gene than the IFN-alpha (IFNA) gene and plays a critical role in both the early and late phases of the IFNA/B gene induction. Found in an inactive form in the cytoplasm of uninfected cells and following viral infection, double-stranded RNA (dsRNA), or toll-like receptor (TLR) signaling, is phosphorylated by IKBKE and TBK1 kinases. This induces a conformational change, leading to its dimerization and nuclear localization and association with CREB binding protein (CREBBP) to form dsRNA-activated factor 1 (DRAF1), a complex which activates the transcription of the type I IFN and ISG genes. Can activate distinct gene expression programs in macrophages and can induce significant apoptosis in primary macrophages.',NULL,NULL,NULL,NULL,NULL),(14676,'UniProt Function',NULL,17594,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.',NULL,NULL,NULL,NULL,NULL),(14677,'UniProt Function',NULL,17595,NULL,'Facilitative glucose transporter (By similarity). May have a specific function related to spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(14678,'UniProt Function',NULL,17596,NULL,'May be involved in p53-induced cell cycle arrest in G2/M phase by interfering with microtubule rearrangements that are required to enter mitosis. Overexpression delays G2/M phase progression.',NULL,NULL,NULL,NULL,NULL),(14679,'UniProt Function',NULL,17597,NULL,'Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly.',NULL,NULL,NULL,NULL,NULL),(14680,'UniProt Function',NULL,17598,NULL,'Voltage-insensitive potassium channel (PubMed:22282805). Channel opening is triggered by mechanical forces that deform the membrane (PubMed:22282805, PubMed:25471887, PubMed:25500157). Channel opening is triggered by raising the intracellular pH to basic levels (By similarity). The channel is inactive at 24 degrees Celsius (in vitro); raising the temperature to 37 degrees Celsius increases the frequency of channel opening, with a further increase in channel activity when the temperature is raised to 42 degrees Celsius (By similarity). Plays a role in the perception of pain caused by heat (By similarity). Plays a role in the sensory perception of pain caused by pressure (By similarity).',NULL,NULL,NULL,NULL,NULL),(14681,'UniProt Function',NULL,17599,NULL,'Probable potassium channel subunit. No channel activity observed in vitro as protein remains in the endoplasmic reticulum. May need to associate with an as yet unknown partner in order to reach the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(14682,'UniProt Function',NULL,17600,NULL,'Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(14683,'UniProt Function',NULL,17601,NULL,'Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(14684,'UniProt Function',NULL,17602,NULL,'Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(14685,'UniProt Function',NULL,17603,NULL,'Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(14686,'UniProt Function',NULL,17605,NULL,'May be a modulator of IL-2 signaling.',NULL,NULL,NULL,NULL,NULL),(14687,'UniProt Function',NULL,17606,NULL,'May play a key role in the control of gene expression during oogenesis and early embryogenesis, presumably through the perturbation of chromatin structure. Essential for meiotic maturation of germinal vesicle-stage oocytes. The somatic type linker histone H1c is rapidly replaced by H1oo in a donor nucleus transplanted into an oocyte. The greater mobility of H1oo as compared to H1c may contribute to this rapid replacement and increased instability of the embryonic chromatin structure. The rapid replacement of H1c with H1oo may play an important role in nuclear remodeling (By similarity).',NULL,NULL,NULL,NULL,NULL),(14688,'UniProt Function',NULL,17607,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14689,'UniProt Function',NULL,17608,NULL,'Hydrolase acting on ester bonds.',NULL,NULL,NULL,NULL,NULL),(14690,'UniProt Function',NULL,17609,NULL,'6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3\'-phosphoadenosine 5\'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate.',NULL,NULL,NULL,NULL,NULL),(14691,'UniProt Function',NULL,17610,NULL,'Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.',NULL,NULL,NULL,NULL,NULL),(14692,'UniProt Function',NULL,17611,NULL,'Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.',NULL,NULL,NULL,NULL,NULL),(14693,'UniProt Function',NULL,17612,NULL,'Involved in oxygen transport from the lung to the various peripheral tissues.',NULL,NULL,NULL,NULL,NULL),(14694,'UniProt Function',NULL,17612,NULL,'LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.',NULL,NULL,NULL,NULL,NULL),(14695,'UniProt Function',NULL,17612,NULL,'Spinorphin: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation.',NULL,NULL,NULL,NULL,NULL),(14696,'UniProt Function',NULL,17613,NULL,'Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.',NULL,NULL,NULL,NULL,NULL),(14697,'UniProt Function',NULL,17614,NULL,'Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor.',NULL,NULL,NULL,NULL,NULL),(14698,'UniProt Function',NULL,17616,NULL,'Acts as a receptor for L-lactate and mediates its anti-lipolytic effect through a G(i)-protein-mediated pathway.',NULL,NULL,NULL,NULL,NULL),(14699,'UniProt Function',NULL,17617,NULL,'Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons via its interactions with NRCAM and NFASC. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with NRCAM, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier.',NULL,NULL,NULL,NULL,NULL),(14700,'UniProt Function',NULL,17618,NULL,'Isoform 1: Regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes (PubMed:22405651, PubMed:22748924). Inhibits E3 ubiquitin ligase activity by binding to RBX1 (via RING domain) and inhibiting its interaction with the E2 ubiquitin-conjugating enzyme CDC34 (PubMed:22405651, PubMed:22748924). Inhibits RBX1-mediated neddylation of CUL1 (PubMed:22405651). Required for normal stability and normal cellular levels of key components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1, CUL2, CUL3, CUL4A, and thereby contributes to the regulation of CCNE1 and MYC levels (By similarity). Essential for normal development of the vasculature (PubMed:11845407). Contributes to the regulation of RPS6KB1 phosphorylation (PubMed:11571281).',NULL,NULL,NULL,NULL,NULL),(14701,'UniProt Function',NULL,17619,NULL,'Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein\'s C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein.',NULL,NULL,NULL,NULL,NULL),(14702,'UniProt Function',NULL,17620,NULL,'The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib.',NULL,NULL,NULL,NULL,NULL),(14703,'UniProt Function',NULL,17621,NULL,'Responsible for the deiodination of T4 (3,5,3\',5\'-tetraiodothyronine) into T3 (3,5,3\'-triiodothyronine) and of T3 into T2 (3,3\'-diiodothyronine). Plays a role in providing a source of plasma T3 by deiodination of T4 in peripheral tissues such as liver and kidney.',NULL,NULL,NULL,NULL,NULL),(14704,'UniProt Function',NULL,17622,NULL,'Responsible for the deiodination of T4 (3,5,3\',5\'-tetraiodothyronine) into T3 (3,5,3\'-triiodothyronine). Essential for providing the brain with appropriate levels of T3 during the critical period of development.',NULL,NULL,NULL,NULL,NULL),(14705,'UniProt Function',NULL,17623,NULL,'Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of UBC9, the RBM8A/MAGOH complex, PAX6 and probably other members of the paired homeobox family. Also mediates nuclear export of eIF-1A, and the cytoplasmic release of eIF-1A is triggered by the loading of import substrates onto IPO13.',NULL,NULL,NULL,NULL,NULL),(14706,'UniProt Function',NULL,17624,NULL,'Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists.',NULL,NULL,NULL,NULL,NULL),(14707,'UniProt Function',NULL,17625,NULL,'Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds kainate > quisqualate > domoate > L-glutamate >> AMPA >> NMDA = 1S,3R-ACPD.',NULL,NULL,NULL,NULL,NULL),(14708,'UniProt Function',NULL,17626,NULL,'May be involved in neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(14709,'UniProt Function',NULL,17627,NULL,'May be involved in neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(14710,'UniProt Function',NULL,17629,NULL,'May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons (PubMed:10197531). Through complex formation with NSG1, GRIA2 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity).',NULL,NULL,NULL,NULL,NULL),(14711,'UniProt Function',NULL,17630,NULL,'Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus.',NULL,NULL,NULL,NULL,NULL),(14712,'UniProt Function',NULL,17631,NULL,'Hydrolyzes inorganic pyrophosphate (PubMed:27523597). This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function (PubMed:27523598).',NULL,NULL,NULL,NULL,NULL),(14713,'UniProt Function',NULL,17632,NULL,'Participates in the organization of endoplasmic reticulum-plasma membrane contact sites (EPCS) with pleiotropic functions including STIM1 recruitment and calcium homeostasis. Constitutive tether that co-localize with ESYT2/3 tethers at endoplasmic reticulum-plasma membrane contact sites in a phosphatidylinositol lipid-dependent manner. Pre-marks the subset of phosphtidylinositol 4,5-biphosphate (PI(4,5)P2)-enriched EPCS destined for the store operated calcium entry pathway (SOCE).',NULL,NULL,NULL,NULL,NULL),(14714,'UniProt Function',NULL,17633,NULL,'Specifically phosphorylates the activated forms of G protein-coupled receptors. Such receptor phosphorylation initiates beta-arrestin-mediated receptor desensitization, internalization, and signaling events leading to their desensitization. Seems to be involved in the desensitization of D2-like dopamine receptors in striatum and chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis (By similarity). Phosphorylates rhodopsin (RHO) (in vitro) and a non G-protein-coupled receptor: LRP6 during Wnt signaling (in vitro).',NULL,NULL,NULL,NULL,NULL),(14715,'UniProt Function',NULL,17634,NULL,'Retina-specific kinase involved in the shutoff of the photoresponse and adaptation to changing light conditions via cone opsin phosphorylation, including rhodopsin (RHO).',NULL,NULL,NULL,NULL,NULL),(14716,'UniProt Function',NULL,17635,NULL,'Isoform 1 appears to be a stable component of the Pol II(G) complex form of RNA polymerase II (Pol II). Pol II synthesizes mRNA precursors and many functional non-coding RNAs and is the central component of the basal RNA polymerase II transcription machinery. Isoform 1 may play a role in the Mediator complex-dependent regulation of transcription activation. Isoform 1 acts in vitro as a negative regulator of transcriptional activation; this repression is relieved by the Mediator complex, which restores Pol II(G) activator-dependent transcription to a level equivalent to that of Pol II.',NULL,NULL,NULL,NULL,NULL),(14717,'UniProt Function',NULL,17636,NULL,'Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly.',NULL,NULL,NULL,NULL,NULL),(14718,'UniProt Function',NULL,17637,NULL,'Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals.',NULL,NULL,NULL,NULL,NULL),(14719,'UniProt Function',NULL,17638,NULL,'Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), EIF2B, CTNNB1/beta-catenin, APC, AXIN1, DPYSL2/CRMP2, JUN, NFATC1/NFATC, MAPT/TAU and MACF1. Requires primed phosphorylation of the majority of its substrates. In skeletal muscle, contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. May also mediate the development of insulin resistance by regulating activation of transcription factors. Regulates protein synthesis by controlling the activity of initiation factor 2B (EIF2BE/EIF2B5) in the same manner as glycogen synthase. In Wnt signaling, GSK3B forms a multimeric complex with APC, AXIN1 and CTNNB1/beta-catenin and phosphorylates the N-terminus of CTNNB1 leading to its degradation mediated by ubiquitin/proteasomes. Phosphorylates JUN at sites proximal to its DNA-binding domain, thereby reducing its affinity for DNA. Phosphorylates NFATC1/NFATC on conserved serine residues promoting NFATC1/NFATC nuclear export, shutting off NFATC1/NFATC gene regulation, and thereby opposing the action of calcineurin. Phosphorylates MAPT/TAU on \'Thr-548\', decreasing significantly MAPT/TAU ability to bind and stabilize microtubules. MAPT/TAU is the principal component of neurofibrillary tangles in Alzheimer disease. Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. Phosphorylates MACF1, inhibiting its binding to microtubules which is critical for its role in bulge stem cell migration and skin wound repair. Probably regulates NF-kappa-B (NFKB1) at the transcriptional level and is required for the NF-kappa-B-mediated anti-apoptotic response to TNF-alpha (TNF/TNFA). Negatively regulates replication in pancreatic beta-cells, resulting in apoptosis, loss of beta-cells and diabetes. Through phosphorylation of the anti-apoptotic protein MCL1, may control cell apoptosis in response to growth factors deprivation. Phosphorylates MUC1 in breast cancer cells, decreasing the interaction of MUC1 with CTNNB1/beta-catenin. Is necessary for the establishment of neuronal polarity and axon outgrowth. Phosphorylates MARK2, leading to inhibit its activity. Phosphorylates SIK1 at \'Thr-182\', leading to sustain its activity. Phosphorylates ZC3HAV1 which enhances its antiviral activity. Phosphorylates SNAI1, leading to its BTRC-triggered ubiquitination and proteasomal degradation. Phosphorylates SFPQ at \'Thr-687\' upon T-cell activation. Phosphorylates NR1D1 st \'Ser-55\' and \'Ser-59\' and stabilizes it by protecting it from proteasomal degradation. Regulates the circadian clock via phosphorylation of the major clock components including ARNTL/BMAL1, CLOCK and PER2. Phosphorylates CLOCK AT \'Ser-427\' and targets it for proteasomal degradation. Phosphorylates ARNTL/BMAL1 at \'Ser-17\' and \'Ser-21\' and primes it for ubiquitination and proteasomal degradation. Phosphorylates OGT at \'Ser-3\' or \'Ser-4\' which positively regulates its activity. Phosphorylates MYCN in neuroblastoma cells which may promote its degradation (PubMed:24391509).',NULL,NULL,NULL,NULL,NULL),(14720,'UniProt Function',NULL,17639,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. This isozyme has a high catalytic efficiency with 4-hydroxyalkenals such as 4-hydroxynonenal (4-HNE).',NULL,NULL,NULL,NULL,NULL),(14721,'UniProt Function',NULL,17640,NULL,'Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of collagen.',NULL,NULL,NULL,NULL,NULL),(14722,'UniProt Function',NULL,17641,NULL,'Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current with fast inactivation. Channel properties may be modulated by cAMP and subunit assembly.',NULL,NULL,NULL,NULL,NULL),(14723,'UniProt Function',NULL,17642,NULL,'GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.',NULL,NULL,NULL,NULL,NULL),(14724,'UniProt Function',NULL,17643,NULL,'Required for spermatogenesis and is involved in the suppression of retrotransposon transcription in male germ cells.',NULL,NULL,NULL,NULL,NULL),(14725,'UniProt Function',NULL,17644,NULL,'Ion channel that contributes to passive transmembrane potassium transport (PubMed:23169818). Reversibly converts between a voltage-insensitive potassium leak channel and a voltage-dependent outward rectifying potassium channel in a phosphorylation-dependent manner (PubMed:11319556). In astrocytes, forms mostly heterodimeric potassium channels with KCNK1, with only a minor proportion of functional channels containing homodimeric KCNK2. In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled receptors, such as F2R and CNR1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(14726,'UniProt Function',NULL,17644,NULL,'Isoform 4: Does not display channel activity but reduces the channel activity of isoform 1 and isoform 2 and reduces cell surface expression of isoform 2.',NULL,NULL,NULL,NULL,NULL),(14727,'UniProt Function',NULL,17645,NULL,'pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward.',NULL,NULL,NULL,NULL,NULL),(14728,'UniProt Function',NULL,17646,NULL,'pH-dependent, voltage insensitive, outwardly rectifying potassium channel. Outward rectification is lost at high external K(+) concentrations.',NULL,NULL,NULL,NULL,NULL),(14729,'UniProt Function',NULL,17647,NULL,'Forms a voltage-independent potassium channel that is activated by intracellular calcium (PubMed:26148990). Activation is followed by membrane hyperpolarization which promotes calcium influx. Required for maximal calcium influx and proliferation during the reactivation of naive T-cells (PubMed:17157250, PubMed:18796614). Plays a role in the late stages of EGF-induced macropinocytosis (PubMed:24591580).',NULL,NULL,NULL,NULL,NULL),(14730,'UniProt Function',NULL,17648,NULL,'Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine (PubMed:9836639, PubMed:11572947, PubMed:14534157, PubMed:12742592, PubMed:17872363). As the native M-channel, the potassium channel composed of KCNQ2 and KCNQ3 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1 (PubMed:10684873).',NULL,NULL,NULL,NULL,NULL),(14731,'UniProt Function',NULL,17649,NULL,'Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure.',NULL,NULL,NULL,NULL,NULL),(14732,'UniProt Function',NULL,17650,NULL,'Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia.',NULL,NULL,NULL,NULL,NULL),(14733,'UniProt Function',NULL,17652,NULL,'Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated (PubMed:19459154). This Ca(2+)-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure.',NULL,NULL,NULL,NULL,NULL),(14734,'UniProt Function',NULL,17653,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14735,'UniProt Function',NULL,17654,NULL,'Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in stable X chromosome inactivation.',NULL,NULL,NULL,NULL,NULL),(14736,'UniProt Function',NULL,17655,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14737,'UniProt Function',NULL,17656,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14738,'UniProt Function',NULL,17658,NULL,'Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).',NULL,NULL,NULL,NULL,NULL),(14739,'UniProt Function',NULL,17662,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a sulfatase activity.',NULL,NULL,NULL,NULL,NULL),(14740,'UniProt Function',NULL,17664,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.',NULL,NULL,NULL,NULL,NULL),(14741,'UniProt Function',NULL,17665,NULL,'Probable transcription factor that binds to the DNA sequence 5\'-GC[TA][AC]ATTA[GA]-3\'. Activates the transcription of the GHRH gene. Plays an important role in pituitary development.',NULL,NULL,NULL,NULL,NULL),(14742,'UniProt Function',NULL,17666,NULL,'Exhibits glutathione-dependent thiol transferase activity. Has high dehydroascorbate reductase activity and may contribute to the recycling of ascorbic acid. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA).',NULL,NULL,NULL,NULL,NULL),(14743,'UniProt Function',NULL,17667,NULL,'May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity).',NULL,NULL,NULL,NULL,NULL),(14744,'UniProt Function',NULL,17668,NULL,'Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed:9738473, PubMed:11943152, PubMed:10880439, PubMed:22732247, PubMed:25556795, PubMed:27325704, PubMed:27005320, PubMed:27618660). Channel properties are modulated by subunit assembly (PubMed:11943152). Mediates IK(NI) current in myoblasts (PubMed:9738473). Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs) (PubMed:23881642).',NULL,NULL,NULL,NULL,NULL),(14745,'UniProt Function',NULL,17669,NULL,'Facilitative glucose transporter; binds cytochalasin B with low affinity.',NULL,NULL,NULL,NULL,NULL),(14746,'UniProt Function',NULL,17670,NULL,'High-affinity transporter for glucose and fructose Does not transport galactose, 2-deoxy-d-glucose and xylose.',NULL,NULL,NULL,NULL,NULL),(14747,'UniProt Function',NULL,17671,NULL,'Promotes degradation of target mRNA species. Plays a role in the regulation of circadian mRNA stability. Binds GTP and has GTPase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(14748,'UniProt Function',NULL,17673,NULL,'Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, rectifying current (By similarity). Channel properties may be modulated by cAMP and subunit assembly.',NULL,NULL,NULL,NULL,NULL),(14749,'UniProt Function',NULL,17674,NULL,'Exhibits outward rectification in a physiological K(+) gradient and mild inward rectification in symmetrical K(+) conditions.',NULL,NULL,NULL,NULL,NULL),(14750,'UniProt Function',NULL,17675,NULL,'Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel (By similarity).',NULL,NULL,NULL,NULL,NULL),(14751,'UniProt Function',NULL,17676,NULL,'Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. May function as background potassium channel that sets the resting membrane potential. Channel activity is directly activated by calcium signal. Activated by the G(q)-protein coupled receptor pathway. The calcium signal robustly activates the channel via calcineurin, whereas the anchoring of 14-3-3/YWHAH interferes with the return of the current to the resting state after activation. Inhibited also by arachidonic acid and other naturally occurring unsaturated free fatty acids. Channel activity is also enhanced by volatile anesthetics, such as isoflurane. Appears to be the primary target of hydroxy-alpha-sanshool, an ingredient of Schezuan pepper. May be involved in the somatosensory function with special respect to pain sensation (By similarity).',NULL,NULL,NULL,NULL,NULL),(14752,'UniProt Function',NULL,17677,NULL,'Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity) (PubMed:10646604). Associates with KCNE beta subunits that modulates current kinetics (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta-adrenergic receptor stimulation participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (By similarity). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (By similarity). When associated with KCNE2, forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5-bisphosphate (PubMed:25037568).',NULL,NULL,NULL,NULL,NULL),(14753,'UniProt Function',NULL,17677,NULL,'Isoform 2: Non-functional alone but modulatory when coexpressed with the full-length isoform 1.',NULL,NULL,NULL,NULL,NULL),(14754,'UniProt Function',NULL,17678,NULL,'Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction.',NULL,NULL,NULL,NULL,NULL),(14755,'UniProt Function',NULL,17681,NULL,'May be involved in the control of excitability of cortical neurons.',NULL,NULL,NULL,NULL,NULL),(14756,'UniProt Function',NULL,17682,NULL,'Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity).',NULL,NULL,NULL,NULL,NULL),(14757,'UniProt Function',NULL,17684,NULL,'Catalyzes the phosphorylation of pyrimidine nucleoside monophosphates at the expense of ATP. Plays an important role in de novo pyrimidine nucleotide biosynthesis. Has preference for UMP and CMP as phosphate acceptors. Also displays broad nucleoside diphosphate kinase activity.',NULL,NULL,NULL,NULL,NULL),(14758,'UniProt Function',NULL,17685,NULL,'Histones H1 are necessary for the condensation of nucleosome chains into higher-order structures. The H1F0 histones are found in cells that are in terminal stages of differentiation or that have low rates of cell division.',NULL,NULL,NULL,NULL,NULL),(14759,'UniProt Function',NULL,17686,NULL,'Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(14760,'UniProt Function',NULL,17687,NULL,'NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids.',NULL,NULL,NULL,NULL,NULL),(14761,'UniProt Function',NULL,17688,NULL,'Endopeptidase that cleaves histones N-terminal tails at the carboxyl side of methylated arginine or lysine residues, to generate \'tailless nucleosomes\', which may trigger transcription elongation (PubMed:28847961, PubMed:29459673, PubMed:28982940). Preferentially recognizes and cleaves monomethylated and dimethylated arginine residues of histones H2, H3 and H4. After initial cleavage, continues to digest histones tails via its aminopeptidase activity (PubMed:28847961, PubMed:29459673). Upon DNA damage, cleaves the N-terminal tail of histone H3 at monomethylated lysine residues, preferably at monomethylated \'Lys-9\' (H3K9me1). The histone variant H3F3A is the major target for cleavage (PubMed:28982940). Additionnally, acts as a Fe(2+) and 2-oxoglutarate-dependent oxygenase, catalyzing (R)-stereospecific hydroxylation at C-3 of \'Arg-137\' of RPS6 and \'Arg-141\' of RCCD1, but the biological significance of this activity remains to be established (PubMed:29563586). Regulates mitosis through different mechanisms: Plays a role in transcriptional repression of satellite repeats, possibly by regulating H3K36 methylation levels in centromeric regions together with RCCD1. Possibly together with RCCD1, is involved in proper mitotic spindle organization and chromosome segregation (PubMed:24981860). Negatively regulates cell cycle repressor CDKN1A/p21, which controls G1/S phase transition (PubMed:24740926). Required for G2/M phase cell cycle progression. Regulates expression of CCNA1/cyclin-A1, leading to cancer cell proliferation (PubMed:20457893). Also, plays a role in regulating alpha-tubulin acetylation and cytoskeletal microtubule stability involved in epithelial to mesenchymal transition (PubMed:28455245).',NULL,NULL,NULL,NULL,NULL),(14762,'UniProt Function',NULL,17689,NULL,'Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division (By similarity).',NULL,NULL,NULL,NULL,NULL),(14763,'UniProt Function',NULL,17690,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14764,'UniProt Function',NULL,17691,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14765,'UniProt Function',NULL,17692,NULL,'Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription (PubMed:12718888, PubMed:15621527, PubMed:16428466). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Involved in stable X chromosome inactivation (PubMed:15897469). Inhibits the binding of transcription factors, including NF-kappa-B, and interferes with the activity of remodeling SWI/SNF complexes (PubMed:12718888, PubMed:16428466). Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces a hypoacetylated state of chromatin (PubMed:16428466, PubMed:16107708).',NULL,NULL,NULL,NULL,NULL),(14766,'UniProt Function',NULL,17692,NULL,'Isoform 1: Binds ADP-ribose and O-acetyl-ADP-ribose, and may be involved in ADP-ribose-mediated chromatin modulation (PubMed:15902274). Increases the expression of genes involved in redox metabolism, including SOD3 (PubMed:23022728).',NULL,NULL,NULL,NULL,NULL),(14767,'UniProt Function',NULL,17692,NULL,'Isoform 2: Represses SOD3 gene expression.',NULL,NULL,NULL,NULL,NULL),(14768,'UniProt Function',NULL,17693,NULL,'Metastasis suppressor protein in malignant melanomas and in some breast cancers. May regulate events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. Generates a C-terminally amidated peptide, metastin which functions as the endogenous ligand of the G-protein coupled receptor GPR54. Activation of the receptor inhibits cell proliferation and cell migration, key characteristics of tumor metastasis. Kp-10 is a decapeptide derived from the primary translation product, isolated in conditioned medium of first trimester trophoblast. Kp-10, but not other kisspeptins, increased intracellular Ca(2+) levels in isolated first trimester trophoblasts. Kp-10 is a paracrine/endocrine regulator in fine-tuning trophoblast invasion generated by the trophoblast itself. The receptor is also essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/GPR54 system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood.',NULL,NULL,NULL,NULL,NULL),(14769,'UniProt Function',NULL,17694,NULL,'Transposase-derived protein that may have nuclease activity (Potential). Does not have transposase activity.',NULL,NULL,NULL,NULL,NULL),(14770,'UniProt Function',NULL,17695,NULL,'Glutamine synthetase that catalyzes the ATP-dependent conversion of glutamate and ammonia to glutamine (PubMed:30158707, PubMed:16267323). Its role depends on tissue localization: in the brain, it regulates the levels of toxic ammonia and converts neurotoxic glutamate to harmless glutamine, whereas in the liver, it is one of the enzymes responsible for the removal of ammonia (By similarity). Essential for proliferation of fetal skin fibroblasts (PubMed:18662667). Independently of its glutamine synthetase activity, required for endothelial cell migration during vascular development: acts by regulating membrane localization and activation of the GTPase RHOJ, possibly by promoting RHOJ palmitoylation (PubMed:30158707). May act as a palmitoyltransferase for RHOJ: able to autopalmitoylate and then transfer the palmitoyl group to RHOJ (PubMed:30158707).',NULL,NULL,NULL,NULL,NULL),(14771,'UniProt Function',NULL,17696,NULL,'Seems to function in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro mediates the nuclear import of SRP19.',NULL,NULL,NULL,NULL,NULL),(14772,'UniProt Function',NULL,17697,NULL,'Functions in nuclear protein import as nuclear transport receptor (PubMed:11823430). Serves as receptor for nuclear localization signals (NLS) in cargo substrates (PubMed:11823430). Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism (PubMed:11823430). At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran (PubMed:11823430). The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (PubMed:11823430). Mediates the nuclear import of RPS7, RPL18A, RPL6, histone H2A, histone H2B and histone (PubMed:11823430). Prevents the cytoplasmic aggregation of RPS7 and RPL18A by shielding exposed basic domains (PubMed:11823430). Mediates the nuclear import of actin (By similarity).',NULL,NULL,NULL,NULL,NULL),(14773,'UniProt Function',NULL,17698,NULL,'Inhibitor of protein-phosphatase 1.',NULL,NULL,NULL,NULL,NULL),(14774,'UniProt Function',NULL,17699,NULL,'Functions as a protein phosphatase inhibitor. It inhibits activity of the catalytic subunit of PP1 and weakly inhibits the activity of myosin-associated phosphates.',NULL,NULL,NULL,NULL,NULL),(14775,'UniProt Function',NULL,17700,NULL,'Inhibitor of protein-phosphatase 1.',NULL,NULL,NULL,NULL,NULL),(14776,'UniProt Function',NULL,17701,NULL,'Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TNF-alpha-induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(14777,'UniProt Function',NULL,17702,NULL,'May play a role in organizing the actin cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(14778,'UniProt Function',NULL,17703,NULL,'Enhances Ca(2+)-mediated inhibition of inositol 1,4,5-triphosphate receptor (ITPR) Ca(2+) release.',NULL,NULL,NULL,NULL,NULL),(14779,'UniProt Function',NULL,17704,NULL,'Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate. Through complex formation with NSG1, GRIP1 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity).',NULL,NULL,NULL,NULL,NULL),(14780,'UniProt Function',NULL,17705,NULL,'Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate.',NULL,NULL,NULL,NULL,NULL),(14781,'UniProt Function',NULL,17706,NULL,'Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist (PubMed:28180184). May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(14782,'UniProt Function',NULL,17707,NULL,'Specifically phosphorylates the activated forms of G protein-coupled receptors. GRK4-alpha can phosphorylate rhodopsin and its activity is inhibited by calmodulin; the other three isoforms do not phosphorylate rhodopsin and do not interact with calmodulin. GRK4-alpha and GRK4-gamma phosphorylate DRD3. Phosphorylates ADRB2.',NULL,NULL,NULL,NULL,NULL),(14783,'UniProt Function',NULL,17708,NULL,'Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds domoate > kainate >> L-glutamate = quisqualate >> AMPA = NMDA.',NULL,NULL,NULL,NULL,NULL),(14784,'UniProt Function',NULL,17709,NULL,'G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. May mediate suppression of neurotransmission or may be involved in synaptogenesis or synaptic stabilization.',NULL,NULL,NULL,NULL,NULL),(14785,'UniProt Function',NULL,17710,NULL,'G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling inhibits adenylate cyclase activity.',NULL,NULL,NULL,NULL,NULL),(14786,'UniProt Function',NULL,17711,NULL,'G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system and generates a calcium-activated chloride current. Plays an important role in the regulation of synaptic plasticity and the modulation of the neural network activity.',NULL,NULL,NULL,NULL,NULL),(14787,'UniProt Function',NULL,17713,NULL,'G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity.',NULL,NULL,NULL,NULL,NULL),(14788,'UniProt Function',NULL,17714,NULL,'G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity.',NULL,NULL,NULL,NULL,NULL),(14789,'UniProt Function',NULL,17716,NULL,'Receptor for gastrin-releasing peptide (GRP) (PubMed:1655761). Signals via association with G proteins that activate a phosphatidylinositol-calcium second messenger system, resulting in Akt phosphorylation. Contributes to the regulation of food intake. Contributes to the perception of prurient stimuli and transmission of itch signals in the spinal cord that promote scratching behavior, but does not play a role in the perception of pain. Contributes primarily to nonhistaminergic itch sensation. Contributes to long-term fear memory, but not normal spatial memory (By similarity).',NULL,NULL,NULL,NULL,NULL),(14790,'UniProt Function',NULL,17717,NULL,'Key transcriptional regulator of type I interferon (IFN)-dependent immune responses and plays a critical role in the innate immune response against DNA and RNA viruses. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters. Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction via both the virus-activated, MyD88-independent pathway and the TLR-activated, MyD88-dependent pathway. Required during both the early and late phases of the IFN gene induction but is more critical for the late than for the early phase. Exists in an inactive form in the cytoplasm of uninfected cells and following viral infection, double-stranded RNA (dsRNA), or toll-like receptor (TLR) signaling, becomes phosphorylated by IKBKE and TBK1 kinases. This induces a conformational change, leading to its dimerization and nuclear localization where along with other coactivators it can activate transcription of the type I IFN and ISG genes. Can also play a role in regulating adaptive immune responses by inducing PSMB9/LMP2 expression, either directly or through induction of IRF1. Binds to the Q promoter (Qp) of EBV nuclear antigen 1 a (EBNA1) and may play a role in the regulation of EBV latency. Can activate distinct gene expression programs in macrophages and regulate the anti-tumor properties of primary macrophages.',NULL,NULL,NULL,NULL,NULL),(14791,'UniProt Function',NULL,17718,NULL,'Plays a role as a transcriptional activator or repressor (PubMed:25122610). Specifically binds to the upstream regulatory region of type I IFN and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)). Plays a negative regulatory role in cells of the immune system. Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5\'-TGAnTCA/GAAA-3\'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF8 and activation of genes (By similarity). Positively regulates macroautophagy in dendritic cells (PubMed:29434592).',NULL,NULL,NULL,NULL,NULL),(14792,'UniProt Function',NULL,17719,NULL,'Transcription factor that mediates signaling by type I IFNs (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading to tyrosine phosphorylation of STAT1 and STAT2. IRF9/ISGF3G associates with the phosphorylated STAT1:STAT2 dimer to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive the cell in an antiviral state.',NULL,NULL,NULL,NULL,NULL),(14793,'UniProt Function',NULL,17720,NULL,'Putative GTPase which is required for clearance of acute protozoan and bacterial infections. Functions in innate immune response probably through regulation of autophagy. May regulate proinflammatory cytokine production and prevent endotoxemia upon infection. May also play a role in macrophages adhesion and motility (By similarity).',NULL,NULL,NULL,NULL,NULL),(14794,'UniProt Function',NULL,17722,NULL,'The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores (PubMed:27281216). The physiological relevance of this observation is unknown (Probable).',NULL,NULL,NULL,NULL,NULL),(14795,'UniProt Function',NULL,17723,NULL,'Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly.',NULL,NULL,NULL,NULL,NULL),(14796,'UniProt Function',NULL,17724,NULL,'Gasdermin-D, N-terminal: Promotes pyroptosis in response to microbial infection and danger signals. Produced by the cleavage of gasdermin-D by inflammatory caspases CASP1 or CASP4 in response to canonical, as well as non-canonical (such as cytosolic LPS) inflammasome activators (PubMed:26375003, PubMed:26375259, PubMed:27418190). After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, including monophosphorylated phosphatidylinositols, such as phosphatidylinositol 4-phosphate, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate, as well as phosphatidylinositol (3,4,5)-bisphosphate, and more weakly to phosphatidic acid and phosphatidylserine (PubMed:27281216). Homooligomerizes within the membrane and forms pores of 10 - 15 nanometers (nm) of inner diameter, possibly allowing the release of mature IL1B and triggering pyroptosis (PubMed:27418190, PubMed:27281216). Exhibits bactericidal activity. Gasdermin-D, N-terminal released from pyroptotic cells into the extracellular milieu rapidly binds to and kills both Gram-negative and Gram-positive bacteria, without harming neighboring mammalian cells, as it does not disrupt the plasma membrane from the outside due to lipid-binding specificity (PubMed:27281216). Under cell culture conditions, also active against intracellular bacteria, such as Listeria monocytogenes (By similarity). Strongly binds to bacterial and mitochondrial lipids, including cardiolipin. Does not bind to unphosphorylated phosphatidylinositol, phosphatidylethanolamine nor phosphatidylcholine (PubMed:27281216).',NULL,NULL,NULL,NULL,NULL),(14797,'UniProt Function',NULL,17725,NULL,'Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53 (PubMed:16897187, PubMed:18223688).',NULL,NULL,NULL,NULL,NULL),(14798,'UniProt Function',NULL,17725,NULL,'Gasdermin-E, N-terminal: Switches CASP3-mediated apoptosis induced by TNF or danger signals, such as chemotherapy drugs, to pyroptosis (PubMed:28459430, PubMed:27281216). Produced by the cleavage of GSDME by CASP3, perforates cell membrane and thereby induces pyroptosis. After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate (PubMed:28459430). Mediates secondary necrosis downstream of the mitochondrial apoptotic pathway and CASP3 activation as well as in response to viral agents (PubMed:28045099). Exhibits bactericidal activity (PubMed:27281216).',NULL,NULL,NULL,NULL,NULL),(14799,'UniProt Function',NULL,17727,NULL,'As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating.',NULL,NULL,NULL,NULL,NULL),(14800,'UniProt Function',NULL,17728,NULL,'Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1. Requires primed phosphorylation of the majority of its substrates. Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. Regulates glycogen metabolism in liver, but not in muscle. May also mediate the development of insulin resistance by regulating activation of transcription factors. In Wnt signaling, regulates the level and transcriptional activity of nuclear CTNNB1/beta-catenin. Facilitates amyloid precursor protein (APP) processing and the generation of APP-derived amyloid plaques found in Alzheimer disease. May be involved in the regulation of replication in pancreatic beta-cells. Is necessary for the establishment of neuronal polarity and axon outgrowth. Through phosphorylation of the anti-apoptotic protein MCL1, may control cell apoptosis in response to growth factors deprivation.',NULL,NULL,NULL,NULL,NULL),(14801,'UniProt Function',NULL,17729,NULL,'Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits.',NULL,NULL,NULL,NULL,NULL),(14802,'UniProt Function',NULL,17730,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Active on 1-chloro-2,4-dinitrobenzene.',NULL,NULL,NULL,NULL,NULL),(14803,'UniProt Function',NULL,17731,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.',NULL,NULL,NULL,NULL,NULL),(14804,'UniProt Function',NULL,17732,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a sulfatase activity.',NULL,NULL,NULL,NULL,NULL),(14805,'UniProt Function',NULL,17733,NULL,'Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. May associate with KCNQ1/KVLTQ1 and inhibit potassium current.',NULL,NULL,NULL,NULL,NULL),(14806,'UniProt Function',NULL,17734,NULL,'Potassium channel subunit that does not form functional channels by itself (PubMed:11852086). Can form functional heterotetrameric channels with KCNB1; this promotes a reduction in the rate of activation and inactivation of the delayed rectifier voltage-gated potassium channel KCNB1 (PubMed:11852086, PubMed:19074135).',NULL,NULL,NULL,NULL,NULL),(14807,'UniProt Function',NULL,17735,NULL,'Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 (PubMed:19074135).',NULL,NULL,NULL,NULL,NULL),(14808,'UniProt Function',NULL,17736,NULL,'May be involved in the ribosome maturation process. Complements an ObgE(CgtA) function in E.coli ribosome maturation. Plays a role of GTPase in vitro. When missing, disorganization of the nucleolar architecture is observed.',NULL,NULL,NULL,NULL,NULL),(14809,'UniProt Function',NULL,17737,NULL,'Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin (By similarity).',NULL,NULL,NULL,NULL,NULL),(14810,'UniProt Function',NULL,17738,NULL,'Endogenous activator of intestinal guanylate cyclase. It stimulates this enzyme through the same receptor binding region as the heat-stable enterotoxins.',NULL,NULL,NULL,NULL,NULL),(14811,'UniProt Function',NULL,17739,NULL,'Endogenous activator of intestinal guanylate cyclase. It stimulates this enzyme through the same receptor binding region as the heat-stable enterotoxins. May be a potent physiological regulator of intestinal fluid and electrolyte transport. May be an autocrine/paracrine regulator of intestinal salt and water transport.',NULL,NULL,NULL,NULL,NULL),(14812,'UniProt Function',NULL,17741,NULL,'Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction.',NULL,NULL,NULL,NULL,NULL),(14813,'UniProt Function',NULL,17742,NULL,'Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.',NULL,NULL,NULL,NULL,NULL),(14814,'UniProt Function',NULL,17743,NULL,'Its interaction with CUL3 suggests that it may act as a substrate adapter in some E3 ligase complex. Does not affect the function of Kv channel Kv2.1/KCNB1, Kv1.2/KCNA2, Kv4.2/KCND2 and Kv3.4/KCNC4.',NULL,NULL,NULL,NULL,NULL),(14815,'UniProt Function',NULL,17744,NULL,'Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1; the function seems to depend on KCTD11:KCTD6 oligomerization. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblastoma (MDB) (PubMed:21472142). Involved in regulating protein levels of ANK1 isoform Mu17 probably implicating CUL3-dependent proteasomal degradation (PubMed:22573887).',NULL,NULL,NULL,NULL,NULL),(14816,'UniProt Function',NULL,17747,NULL,'Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance. Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit PP2A but acts by mediating phosphorylation and subsequent activation of ARPP19 and ENSA at \'Ser-62\' and \'Ser-67\', respectively. ARPP19 and ENSA are phosphatase inhibitors that specifically inhibit the PPP2R2D (PR55-delta) subunit of PP2A. Inactivation of PP2A during M phase is essential to keep cyclin-B1-CDK1 activity high. Following DNA damage, it is also involved in checkpoint recovery by being inhibited. Phosphorylates histone protein in vitro; however such activity is unsure in vivo. May be involved in megakaryocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(14817,'UniProt Function',NULL,17748,NULL,'Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.',NULL,NULL,NULL,NULL,NULL),(14818,'UniProt Function',NULL,17749,NULL,'Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.',NULL,NULL,NULL,NULL,NULL),(14819,'UniProt Function',NULL,17750,NULL,'Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.',NULL,NULL,NULL,NULL,NULL),(14820,'UniProt Function',NULL,17751,NULL,'Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values.',NULL,NULL,NULL,NULL,NULL),(14821,'UniProt Function',NULL,17752,NULL,'Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses.',NULL,NULL,NULL,NULL,NULL),(14822,'UniProt Function',NULL,17754,NULL,'Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a non-inactivating outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly.',NULL,NULL,NULL,NULL,NULL),(14823,'UniProt Function',NULL,17755,NULL,'Facilitative glucose transporter. This isoform likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell. May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney.',NULL,NULL,NULL,NULL,NULL),(14824,'UniProt Function',NULL,17756,NULL,'Functions as a fructose transporter that has only low activity with other monosaccharides (PubMed:8333543). Can mediate the uptake of 2-deoxyglucose, but with low efficiency (PubMed:1695905). Essential for fructose uptake in the small intestine. Plays a role in the regulation of salt uptake and blood pressure in response to dietary fructose. Required for the development of high blood pressure in response to high dietary fructose intake (By similarity).',NULL,NULL,NULL,NULL,NULL),(14825,'UniProt Function',NULL,17757,NULL,'Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel.',NULL,NULL,NULL,NULL,NULL),(14826,'UniProt Function',NULL,17758,NULL,'Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin.',NULL,NULL,NULL,NULL,NULL),(14827,'UniProt Function',NULL,17759,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14828,'UniProt Function',NULL,17760,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14829,'UniProt Function',NULL,17761,NULL,'Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Required for checkpoint-mediated arrest of cell cycle progression in response to low doses of ionizing radiation and for efficient repair of DNA double strand breaks (DSBs) specifically when modified by C-terminal phosphorylation.',NULL,NULL,NULL,NULL,NULL),(14830,'UniProt Function',NULL,17762,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14831,'UniProt Function',NULL,17763,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14832,'UniProt Function',NULL,17764,NULL,'Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14833,'UniProt Function',NULL,17765,NULL,'Variant histone H3 which replaces conventional H3 in a wide range of nucleosomes in active genes. Constitutes the predominant form of histone H3 in non-dividing cells and is incorporated into chromatin independently of DNA synthesis. Deposited at sites of nucleosomal displacement throughout transcribed genes, suggesting that it represents an epigenetic imprint of transcriptionally active chromatin. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.',NULL,NULL,NULL,NULL,NULL),(14834,'UniProt Function',NULL,17766,NULL,'Primate-specific variant histone H3, which constitutes a core component of nucleosomes (PubMed:20819935, PubMed:27016736). Histone H3.Y-containing nucleosomes accumulate around transcription start sites and have flexible DNA ends, suggesting that they form relaxed chromatin that allows transcription factor access (PubMed:27016736). Histone H1 binds less efficiently to histone H3.Y-containing nucleosomes (PubMed:27016736). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (Probable).',NULL,NULL,NULL,NULL,NULL),(14835,'UniProt Function',NULL,17767,NULL,'6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3\'-phosphoadenosine 5\'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. Critical for normal neuronal development where it may play a role in neuron branching. May also play a role in limb development. May prefer iduronic acid.',NULL,NULL,NULL,NULL,NULL),(14836,'UniProt Function',NULL,17768,NULL,'Non-receptor tyrosine-protein kinase found in hematopoietic cells that transmits signals from cell surface receptors and plays an important role in the regulation of innate immune responses, including neutrophil, monocyte, macrophage and mast cell functions, phagocytosis, cell survival and proliferation, cell adhesion and migration. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as FCGR1A and FCGR2A, but also CSF3R, PLAUR, the receptors for IFNG, IL2, IL6 and IL8, and integrins, such as ITGB1 and ITGB2. During the phagocytic process, mediates mobilization of secretory lysosomes, degranulation, and activation of NADPH oxidase to bring about the respiratory burst. Plays a role in the release of inflammatory molecules. Promotes reorganization of the actin cytoskeleton and actin polymerization, formation of podosomes and cell protrusions. Inhibits TP73-mediated transcription activation and TP73-mediated apoptosis. Phosphorylates CBL in response to activation of immunoglobulin gamma Fc region receptors. Phosphorylates ADAM15, BCR, ELMO1, FCGR2A, GAB1, GAB2, RAPGEF1, STAT5B, TP73, VAV1 and WAS.',NULL,NULL,NULL,NULL,NULL),(14837,'UniProt Function',NULL,17769,NULL,'Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1.',NULL,NULL,NULL,NULL,NULL),(14838,'UniProt Function',NULL,17770,NULL,'Hyperpolarization-activated ion channel with very slow activation and inactivation exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) that regulate the rhythm of heart beat. May contribute to the native pacemaker currents in neurons (Ih). May mediate responses to sour stimuli.',NULL,NULL,NULL,NULL,NULL),(14839,'UniProt Function',NULL,17771,NULL,'J region of the variable domain of immunoglobulin kappa light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(14840,'UniProt Function',NULL,17772,NULL,'Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.',NULL,NULL,NULL,NULL,NULL),(14841,'UniProt Function',NULL,17773,NULL,'Calcium/calmodulin-dependent protein kinase that belongs to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Phosphorylates CAMK1, CAMK1D, CAMK1G and CAMK4. Involved in regulating cell apoptosis. Promotes cell survival by phosphorylating AKT1/PKB that inhibits pro-apoptotic BAD/Bcl2-antagonist of cell death.',NULL,NULL,NULL,NULL,NULL),(14842,'UniProt Function',NULL,17774,NULL,'Involved in control of the cell cycle (PubMed:10629049, PubMed:10779346, PubMed:15190068, PubMed:16624878, PubMed:23629655). Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300 (PubMed:10675337, PubMed:12244100). Coactivator for EGR2 and GABP2 (PubMed:12244100, PubMed:14532282). Tethers the chromatin modifying Set1/Ash2 histone H3 \'Lys-4\' methyltransferase (H3K4me) and Sin3 histone deacetylase (HDAC) complexes (involved in the activation and repression of transcription, respectively) together (PubMed:12670868). Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1 (PubMed:20200153). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852). Recruits KMT2E/MLL5 to E2F1 responsive promoters promoting transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655).',NULL,NULL,NULL,NULL,NULL),(14843,'UniProt Function',NULL,17774,NULL,'(Microbial infection) In case of human herpes simplex virus (HSV) infection, HCFC1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and POU2F1 thereby enabling the transcription of the viral immediate early genes.',NULL,NULL,NULL,NULL,NULL),(14844,'UniProt Function',NULL,17778,NULL,'Enhances DNA synthesis and may play a role in cell proliferation.',NULL,NULL,NULL,NULL,NULL),(14845,'UniProt Function',NULL,17780,NULL,'Transcriptional regulator that binds to the GA element of the CLCNKA promoter. Binds to the KCNIP2 promoter and regulates KCNIP2 circadian expression in the heart (By similarity). Is a repressor of CTGF expression, involved in the control of cardiac fibrosis. It is also involved in the control of cardiac hypertrophy acting through the inhibition of MEF2A and GATA4 (By similarity). Involved in podocyte differentiation (By similarity). Inhibits MYOCD activity. Is a negative regulator of TP53 acetylation. Inhibits NF-kappa-B activation through repression of EP300-dependent RELA acetylation.',NULL,NULL,NULL,NULL,NULL),(14846,'UniProt Function',NULL,17781,NULL,'Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4), and some other non-histone substrates. Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Participates in the BCL6 transcriptional repressor activity by deacetylating the H3 \'Lys-27\' (H3K27) on enhancer elements, antagonizing EP300 acetyltransferase activity and repressing proximal gene expression. Probably participates in the regulation of transcription through its binding to the zinc-finger transcription factor YY1; increases YY1 repression activity. Required to repress transcription of the POU1F1 transcription factor. Acts as a molecular chaperone for shuttling phosphorylated NR2C1 to PML bodies for sumoylation (PubMed:21444723, PubMed:23911289). Contributes, together with XBP1 isoform 1, to the activation of NFE2L2-mediated HMOX1 transcription factor gene expression in a PI(3)K/mTORC2/Akt-dependent signaling pathway leading to endothelial cell (EC) survival under disturbed flow/oxidative stress (PubMed:25190803).',NULL,NULL,NULL,NULL,NULL),(14847,'UniProt Function',NULL,17782,NULL,'May play a role in microtubule-mediated transport or vesicle function.',NULL,NULL,NULL,NULL,NULL),(14848,'UniProt Function',NULL,17783,NULL,'Transcription factor that binds to GC box promoter elements. Activates the transcription of these genes.',NULL,NULL,NULL,NULL,NULL),(14849,'UniProt Function',NULL,17784,NULL,'May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo.',NULL,NULL,NULL,NULL,NULL),(14850,'UniProt Function',NULL,17786,NULL,'Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:24130829, PubMed:23798402). Chromatin interaction is mediated via the binding to tri-methylated histone H3 at \'Lys-4\' (H3K4me3) (PubMed:24130829, PubMed:23798402). Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity). Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages including G1/S transition, S phase progression and mitotic entry (PubMed:14718661, PubMed:18573682, PubMed:19264965, PubMed:23629655). Recruited to E2F1 responsive promoters by HCFC1 where it stimulates tri-methylation of histone H3 at \'Lys-4\' and transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(14851,'UniProt Function',NULL,17786,NULL,'Isoform NKp44L: Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and NK-cell-mediated innate immunity.',NULL,NULL,NULL,NULL,NULL),(14852,'UniProt Function',NULL,17788,NULL,'Receptor for the hormone galanin (PubMed:25691535). Receptor for the hormone spexin-1 (PubMed:24517231).',NULL,NULL,NULL,NULL,NULL),(14853,'UniProt Function',NULL,17789,NULL,'Transcription factor required during cardiovascular development (PubMed:23289003). Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer (PubMed:25543888).',NULL,NULL,NULL,NULL,NULL),(14854,'UniProt Function',NULL,17790,NULL,'Component of some chromatin complex recruited to chromatin sites methylated \'Lys-4\' of histone H3 (H3K4me).',NULL,NULL,NULL,NULL,NULL),(14855,'UniProt Function',NULL,17791,NULL,'Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).',NULL,NULL,NULL,NULL,NULL),(14856,'UniProt Function',NULL,17792,NULL,'Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5\'-GACCACCCAC-3\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(14857,'UniProt Function',NULL,17793,NULL,'Functions as transcription regulator in the hedgehog (Hh) pathway (PubMed:18455992, PubMed:26565916). Functions as transcriptional activator (PubMed:9557682, PubMed:19878745, PubMed:24311597). May also function as transcriptional repressor (By similarity). Requires STK36 for full transcriptional activator activity. Required for normal embryonic development (PubMed:15994174, PubMed:20685856).',NULL,NULL,NULL,NULL,NULL),(14858,'UniProt Function',NULL,17793,NULL,'Isoform 1, isoform 2, isoform 3 and isoform 4: Act as transcriptional activators in T-cell leukemia virus type 1 (HTLV-1)-infected cells in a Tax-dependent manner. Bind to the DNA sequence 5\'-GAACCACCCA-3\' which is part of the Tax-responsive element (TRE-2S) regulatory element that augments the Tax-dependent enhancer of HTLV-1 (PubMed:9557682). Are involved in the smoothened (SHH) signaling pathway (PubMed:18455992).',NULL,NULL,NULL,NULL,NULL),(14859,'UniProt Function',NULL,17793,NULL,'Isoform 5: Acts as a transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(14860,'UniProt Function',NULL,17794,NULL,'Key enzyme in the regulation of glycerol uptake and metabolism.',NULL,NULL,NULL,NULL,NULL),(14861,'UniProt Function',NULL,17795,NULL,'G-protein coupled receptor for glucagon that plays a central role in the regulation of blood glucose levels and glucose homeostasis. Regulates the rate of hepatic glucose production by promoting glycogen hydrolysis and gluconeogenesis. Plays an important role in mediating the responses to fasting. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Promotes activation of adenylate cyclase. Besides, plays a role in signaling via a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(14862,'UniProt Function',NULL,17796,NULL,'Glucagon plays a key role in glucose metabolism and homeostasis. Regulates blood glucose by increasing gluconeogenesis and decreasing glycolysis. A counterregulatory hormone of insulin, raises plasma glucose levels in response to insulin-induced hypoglycemia. Plays an important role in initiating and maintaining hyperglycemic conditions in diabetes.',NULL,NULL,NULL,NULL,NULL),(14863,'UniProt Function',NULL,17796,NULL,'GLP-1 is a potent stimulator of glucose-dependent insulin release. Play important roles on gastric motility and the suppression of plasma glucagon levels. May be involved in the suppression of satiety and stimulation of glucose disposal in peripheral tissues, independent of the actions of insulin. Have growth-promoting activities on intestinal epithelium. May also regulate the hypothalamic pituitary axis (HPA) via effects on LH, TSH, CRH, oxytocin, and vasopressin secretion. Increases islet mass through stimulation of islet neogenesis and pancreatic beta cell proliferation. Inhibits beta cell apoptosis.',NULL,NULL,NULL,NULL,NULL),(14864,'UniProt Function',NULL,17796,NULL,'GLP-2 stimulates intestinal growth and up-regulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. The gastrointestinal tract, from the stomach to the colon is the principal target for GLP-2 action. Plays a key role in nutrient homeostasis, enhancing nutrient assimilation through enhanced gastrointestinal function, as well as increasing nutrient disposal. Stimulates intestinal glucose transport and decreases mucosal permeability.',NULL,NULL,NULL,NULL,NULL),(14865,'UniProt Function',NULL,17796,NULL,'Oxyntomodulin significantly reduces food intake. Inhibits gastric emptying in humans. Suppression of gastric emptying may lead to increased gastric distension, which may contribute to satiety by causing a sensation of fullness.',NULL,NULL,NULL,NULL,NULL),(14866,'UniProt Function',NULL,17796,NULL,'Glicentin may modulate gastric acid secretion and the gastro-pyloro-duodenal activity. May play an important role in intestinal mucosal growth in the early period of life.',NULL,NULL,NULL,NULL,NULL),(14867,'UniProt Function',NULL,17797,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.',NULL,NULL,NULL,NULL,NULL),(14868,'UniProt Function',NULL,17799,NULL,'Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. Recognizes NLSs of influenza A virus nucleoprotein probably through ARM repeats 7-9.',NULL,NULL,NULL,NULL,NULL),(14869,'UniProt Function',NULL,17800,NULL,'Putative acyltransferase which transfers an acyl group to the N-terminus of glutamine. Can use phenylacetyl-CoA as an acyl donor.',NULL,NULL,NULL,NULL,NULL),(14870,'UniProt Function',NULL,17801,NULL,'Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.',NULL,NULL,NULL,NULL,NULL),(14871,'UniProt Function',NULL,17802,NULL,'Putative oxidoreductase that is recruited on chromatin and promotes KDM1B demethylase activity (PubMed:23260659). Recognizes and binds trimethylated \'Lys-36\' of histone H3 (H3K36me3) (PubMed:20850016). Regulates p38 MAP kinase activity by mediating stress activation of p38alpha/MAPK14 and specifically regulating MAPK14 signaling (PubMed:16352664). Indirectly promotes phosphorylation of MAPK14 and activation of ATF2 (PubMed:16352664). The phosphorylation of MAPK14 requires upstream activity of MAP2K4 and MAP2K6 (PubMed:16352664).',NULL,NULL,NULL,NULL,NULL),(14872,'UniProt Function',NULL,17803,NULL,'Mitochondrial acyltransferase which transfers the acyl group to the N-terminus of glycine. Conjugates numerous substrates, such as arachidonoyl-CoA and saturated medium and long-chain acyl-CoAs ranging from chain-length C8:0-CoA to C18:0-CoA, to form a variety of N-acylglycines. Shows a preference for monounsaturated fatty acid oleoyl-CoA (C18:1-CoA) as an acyl donor. Does not exhibit any activity toward C22:6-CoA and chenodeoxycholoyl-CoA, nor toward serine or alanine.',NULL,NULL,NULL,NULL,NULL),(14873,'UniProt Function',NULL,17804,NULL,'Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids. Binds also to the transferrin receptor promoter. Essential auxiliary factor for the replication of parvoviruses.',NULL,NULL,NULL,NULL,NULL),(14874,'UniProt Function',NULL,17805,NULL,'Has both folate hydrolase and N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity. Has a preference for tri-alpha-glutamate peptides. In the intestine, required for the uptake of folate. In the brain, modulates excitatory neurotransmission through the hydrolysis of the neuropeptide, N-aceylaspartylglutamate (NAAG), thereby releasing glutamate. Involved in prostate tumor progression.',NULL,NULL,NULL,NULL,NULL),(14875,'UniProt Function',NULL,17805,NULL,'Also exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC.',NULL,NULL,NULL,NULL,NULL),(14876,'UniProt Function',NULL,17806,NULL,'Possible transcriptional activator.',NULL,NULL,NULL,NULL,NULL),(14877,'UniProt Function',NULL,17807,NULL,'Adapter protein that links FGF and NGF receptors to downstream signaling pathways. Involved in the activation of MAP kinases. Down-regulates ERK2 signaling by interfering with the phosphorylation and nuclear translocation of ERK2.',NULL,NULL,NULL,NULL,NULL),(14878,'UniProt Function',NULL,17808,NULL,'Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(14879,'UniProt Function',NULL,17809,NULL,'May catalyze alpha-1,3 glycosidic linkages involved in the expression of Lewis X/SSEA-1 and VIM-2 antigens.',NULL,NULL,NULL,NULL,NULL),(14880,'UniProt Function',NULL,17810,NULL,'Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Mediates the polyubiquitination and proteasomal degradation of CAMK1 leading to disruption of cyclin D1/CDK4 complex assembly which results in G1 cell cycle arrest in lung epithelia.',NULL,NULL,NULL,NULL,NULL),(14881,'UniProt Function',NULL,17811,NULL,'Catalyzes alpha-1,3 glycosidic linkages involved in the expression of sialyl Lewis X antigens.',NULL,NULL,NULL,NULL,NULL),(14882,'UniProt Function',NULL,17813,NULL,'Receptor for Wnt proteins. Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable).',NULL,NULL,NULL,NULL,NULL),(14883,'UniProt Function',NULL,17815,NULL,'Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells. Modulates the expression of interleukin-2 (IL-2). Involved in platelet activation. Prevents the degradation of SKAP1 and SKAP2. May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(14884,'UniProt Function',NULL,17816,NULL,'Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates.',NULL,NULL,NULL,NULL,NULL),(14885,'UniProt Function',NULL,17817,NULL,'May hydrolyze glucose-6-phosphate to glucose in the endoplasmic reticulum. May be responsible for glucose production through glycogenolysis and gluconeogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(14886,'UniProt Function',NULL,17818,NULL,'Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis.',NULL,NULL,NULL,NULL,NULL),(14887,'UniProt Function',NULL,17819,NULL,'May play an important role in regulating the switch between different pathways for energy production during spermiogenesis and in the spermatozoon. Required for sperm motility and male fertility (By similarity).',NULL,NULL,NULL,NULL,NULL),(14888,'UniProt Function',NULL,17820,NULL,'Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine.',NULL,NULL,NULL,NULL,NULL),(14889,'UniProt Function',NULL,17821,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the immunoglobulin A1 (IgA1) hinge region.',NULL,NULL,NULL,NULL,NULL),(14890,'UniProt Function',NULL,17822,NULL,'Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053).',NULL,NULL,NULL,NULL,NULL),(14891,'UniProt Function',NULL,17823,NULL,'Negatively regulates B-cell proliferation following stimulation through the B-cell receptor. May play an important role in maintenance of marginal zone (MZ) B-cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(14892,'UniProt Function',NULL,17824,NULL,'Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.',NULL,NULL,NULL,NULL,NULL),(14893,'UniProt Function',NULL,17825,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Does not glycosylate apomucin or SDC3.',NULL,NULL,NULL,NULL,NULL),(14894,'UniProt Function',NULL,17826,NULL,'Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid.',NULL,NULL,NULL,NULL,NULL),(14895,'UniProt Function',NULL,17827,NULL,'Glycine receptors are ligand-gated chloride channels (PubMed:23994010, PubMed:25730860). Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:7920629, PubMed:14551753, PubMed:16144831, PubMed:22715885, PubMed:22973015, PubMed:25973519, PubMed:9009272). Channel opening is also triggered by taurine and beta-alanine (PubMed:16144831, PubMed:9009272). Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization (PubMed:14551753). Plays an important role in the down-regulation of neuronal excitability (PubMed:8298642, PubMed:9009272). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Channel activity is potentiated by ethanol (PubMed:25973519). Potentiation of channel activity by intoxicating levels of ethanol contribute to the sedative effects of ethanol (By similarity).',NULL,NULL,NULL,NULL,NULL),(14896,'UniProt Function',NULL,17828,NULL,'Monothiol glutaredoxin involved in the biogenesis of iron-sulfur clusters (PubMed:20364084). Involved in protein lipoylation, acting in the pathway that provides an iron-sulfur cluster to lipoate synthase (PubMed:24334290). Required for normal iron homeostasis. Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 (PubMed:20364084). May protect cells against apoptosis due to reactive oxygen species and oxidative stress (By similarity).',NULL,NULL,NULL,NULL,NULL),(14897,'UniProt Function',NULL,17829,NULL,'Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel opening is also triggered by taurine and beta-alanine. Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents.',NULL,NULL,NULL,NULL,NULL),(14898,'UniProt Function',NULL,17831,NULL,'Probable inactive glycosyltransferase required during spermatid development. May participate in protein loading into the acrosomes and accumulation of ubiquitin-proteasome systems around the head-tail coupling apparatus region.',NULL,NULL,NULL,NULL,NULL),(14899,'UniProt Function',NULL,17832,NULL,'Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity).',NULL,NULL,NULL,NULL,NULL),(14900,'UniProt Function',NULL,17833,NULL,'Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus.',NULL,NULL,NULL,NULL,NULL),(14901,'UniProt Function',NULL,17834,NULL,'Acyltransferase which transfers an acyl group to the N-terminus of glutamine. Can use phenylacetyl-CoA as an acyl donor.',NULL,NULL,NULL,NULL,NULL),(14902,'UniProt Function',NULL,17835,NULL,'Acyltransferase which transfers the acyl group to the N-terminus of glycine.',NULL,NULL,NULL,NULL,NULL),(14903,'UniProt Function',NULL,17836,NULL,'Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids.',NULL,NULL,NULL,NULL,NULL),(14904,'UniProt Function',NULL,17837,NULL,'May play a role in the apoptotic pathway or cell-cycle regulation induced by p53/TP53 after DNA damage.',NULL,NULL,NULL,NULL,NULL),(14905,'UniProt Function',NULL,17838,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:22609986, PubMed:15525651, PubMed:15240885, PubMed:17565996, PubMed:12515866, PubMed:16787920, PubMed:16705036, PubMed:23762476, PubMed:27084452). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF12/LARG) (PubMed:15240885, PubMed:12515866, PubMed:16202387). GNA12-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). GNA12-dependent Rho signaling also regulates protein phosphatese 2A activation causing dephosphorylation of its target proteins (PubMed:15525651, PubMed:17565996). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway and up-regulating proinflammatory cytokine production (PubMed:23762476, PubMed:16787920, PubMed:16705036, PubMed:27084452). Inhibits CDH1-mediated cell adhesion in process independent from Rho activation (PubMed:11976333, PubMed:16787920). Together with NAPA promotes CDH5 localization to plasma membrane (PubMed:15980433). May play a role in the control of cell migration through the TOR signaling cascade (PubMed:22609986).',NULL,NULL,NULL,NULL,NULL),(14906,'UniProt Function',NULL,17839,NULL,'Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:8774883, PubMed:18434541). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (By similarity). The inactive GDP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. Required for normal cytokinesis during mitosis (PubMed:17635935). Required for cortical dynein-dynactin complex recruitment during metaphase (PubMed:22327364).',NULL,NULL,NULL,NULL,NULL),(14907,'UniProt Function',NULL,17840,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear. Stimulated by RGS14.',NULL,NULL,NULL,NULL,NULL),(14908,'UniProt Function',NULL,17842,NULL,'Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells.',NULL,NULL,NULL,NULL,NULL),(14909,'UniProt Function',NULL,17842,NULL,'Isoform C: Determines the expression of the blood group I antigen in erythrocytes.',NULL,NULL,NULL,NULL,NULL),(14910,'UniProt Function',NULL,17843,NULL,'Golgi auto-antigen; probably involved in maintaining Golgi structure.',NULL,NULL,NULL,NULL,NULL),(14911,'UniProt Function',NULL,17844,NULL,'Involved in vesicular trafficking at the Golgi apparatus level. Involved in endosome-to-Golgi trafficking.',NULL,NULL,NULL,NULL,NULL),(14912,'UniProt Function',NULL,17846,NULL,'May have a role during the programmed cell death of hematopoietic cells (By similarity). Acts as an E3 ubiquitin-protein ligase.',NULL,NULL,NULL,NULL,NULL),(14913,'UniProt Function',NULL,17847,NULL,'Not yet known.',NULL,NULL,NULL,NULL,NULL),(14914,'UniProt Function',NULL,17848,NULL,'Induces growth and cell cycle arrests at the G1 phase of the cell cycle.',NULL,NULL,NULL,NULL,NULL),(14915,'UniProt Function',NULL,17848,NULL,'Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.',NULL,NULL,NULL,NULL,NULL),(14916,'UniProt Function',NULL,17849,NULL,'Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.',NULL,NULL,NULL,NULL,NULL),(14917,'UniProt Function',NULL,17850,NULL,'Has transcriptional repressor activity, probably as part of a complex with YY1, SIN3A AND HDAC1. Required for B cell lymphopoiesis.',NULL,NULL,NULL,NULL,NULL),(14918,'UniProt Function',NULL,17851,NULL,'May be involved in fusion of ER-derived transport vesicles with the Golgi complex.',NULL,NULL,NULL,NULL,NULL),(14919,'UniProt Function',NULL,17852,NULL,'Expressed in peripheral macrophages and intestinal myeloid-derived cells, is required for optimal PRR (pattern recognition receptor)-induced signaling, cytokine secretion, and bacterial clearance. Upon stimulation of a broad range of PRRs (pattern recognition receptor) such as NOD2 or TLR2, TLR3, TLR4, TLR5, TLR7 and TLR9, associates with YWHAQ/14-3-3T, which in turn leads to the recruitment and activation of MAP kinases and NF-kappa-B signaling complexes that amplifies PRR-induced downstream signals and cytokine secretion (PubMed:28436939). In the intestine, regulates adherens junction stability by regulating the degradation of CYTH1 and CYTH2, probably acting as substrate cofactor for SCF E3 ubiquitin-protein ligase complexes. Stabilizes adherens junctions by limiting CYTH1-dependent ARF6 activation (PubMed:29420262).',NULL,NULL,NULL,NULL,NULL),(14920,'UniProt Function',NULL,17853,NULL,'Plays a role in the assembly and membrane stacking of the Golgi cisternae, and in the process by which Golgi stacks reform after breakdown during mitosis and meiosis (PubMed:10487747, PubMed:21515684, PubMed:22523075). May regulate the intracellular transport and presentation of a defined set of transmembrane proteins, such as transmembrane TGFA (PubMed:11101516). Required for normal acrosome formation during spermiogenesis and normal male fertility, probably by promoting colocalization of JAM2 and JAM3 at contact sites between germ cells and Sertoli cells (By similarity). Mediates ER stress-induced unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936, PubMed:27062250, PubMed:28067262).',NULL,NULL,NULL,NULL,NULL),(14921,'UniProt Function',NULL,17856,NULL,'Orphan receptor. Has spontaneous activity for beta-arrestin recruitment (PubMed:28827538). Shows a reciprocal regulatory interaction with the melatonin receptor MTNR1B most likely through receptor heteromerization (PubMed:28827538).',NULL,NULL,NULL,NULL,NULL),(14922,'UniProt Function',NULL,17857,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14923,'UniProt Function',NULL,17858,NULL,'Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand-dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport.',NULL,NULL,NULL,NULL,NULL),(14924,'UniProt Function',NULL,17859,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14925,'UniProt Function',NULL,17860,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14926,'UniProt Function',NULL,17861,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14927,'UniProt Function',NULL,17862,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14928,'UniProt Function',NULL,17864,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14929,'UniProt Function',NULL,17865,NULL,'Orphan receptor that promotes neuronal differentiation of radial glial progenitors (RGPs). The activity of this receptor is mediated by a G(q)-protein that activates a phosphatidylinositol-calcium second messenger.',NULL,NULL,NULL,NULL,NULL),(14930,'UniProt Function',NULL,17866,NULL,'Chemotactic factor that mediates lymphocytes recruitement to epithelia through binding and activation of the G-protein coupled receptor GPR15 (PubMed:28900043, PubMed:28936214). May be a tumor suppressor; together with SUSD2 has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest (PubMed:25351403).',NULL,NULL,NULL,NULL,NULL),(14931,'UniProt Function',NULL,17866,NULL,'Has antimicrobial activity against Gram-positive bacteria, including Staphylococcus aureus and Actinomyces spec., and Mycoplasma hominis and lentivirus (PubMed:25585381).',NULL,NULL,NULL,NULL,NULL),(14932,'UniProt Function',NULL,17867,NULL,'Inhibitor of the serine/threonine-protein kinase PAK4 (PubMed:26607847). Acts by binding PAK4 in a substrate-like manner, inhibiting the protein kinase activity (PubMed:26607847).',NULL,NULL,NULL,NULL,NULL),(14933,'UniProt Function',NULL,17868,NULL,'Inhibitor of the serine/threonine-protein kinase PAK4. Acts by binding PAK4 in a substrate-like manner, inhibiting the protein kinase activity.',NULL,NULL,NULL,NULL,NULL),(14934,'UniProt Function',NULL,17870,NULL,'The IFNLR1/IL10RB dimer is a receptor for the cytokine ligands IFNL2 and IFNL3 and mediates their antiviral activity. The ligand/receptor complex stimulate the activation of the JAK/STAT signaling pathway leading to the expression of IFN-stimulated genes (ISG), which contribute to the antiviral state. Determines the cell type specificity of the lambda interferon action. Shows a more restricted pattern of expression in the epithelial tissues thereby limiting responses to lambda interferons primarily to epithelial cells of the respiratory, gastrointestinal, and reproductive tracts. Seems not to be essential for early virus-activated host defense in vaginal infection, but plays an important role in Toll-like receptor (TLR)-induced antiviral defense. Plays a significant role in the antiviral immune defense in the intestinal epithelium.',NULL,NULL,NULL,NULL,NULL),(14935,'UniProt Function',NULL,17871,NULL,'Functions as thioether S-methyltransferase and is active with a variety of thioethers and the corresponding selenium and tellurium compounds, including 3-methylthiopropionaldehyde, dimethyl selenide, dimethyl telluride, 2-methylthioethylamine, 2-methylthioethanol, methyl-n-propyl sulfide and diethyl sulfide. Plays an important role in the detoxification of selenium compounds (By similarity). Catalyzes the N-methylation of tryptamine and structurally related compounds.',NULL,NULL,NULL,NULL,NULL),(14936,'UniProt Function',NULL,17872,NULL,'Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5\'-GACCACCCAC-3\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(14937,'UniProt Function',NULL,17873,NULL,'Acts as a transcriptional activator (PubMed:19706761, PubMed:10806483, PubMed:19878745, PubMed:24311597, PubMed:24217340). Binds to the DNA consensus sequence 5\'-GACCACCCA-3\' (PubMed:2105456, PubMed:8378770, PubMed:24217340). May regulate the transcription of specific genes during normal development (PubMed:19706761). May play a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling (PubMed:19706761). Plays a role in cell proliferation and differentiation via its role in SHH signaling (Probable).',NULL,NULL,NULL,NULL,NULL),(14938,'UniProt Function',NULL,17873,NULL,'Isoform 2: Acts as a transcriptional activator, but activates a different set of genes than isoform 1. Activates expression of CD24, unlike isoform 1. Mediates SHH signaling. Promotes cancer cell migration.',NULL,NULL,NULL,NULL,NULL),(14939,'UniProt Function',NULL,17874,NULL,'May be involved in maintaining Golgi structure.',NULL,NULL,NULL,NULL,NULL),(14940,'UniProt Function',NULL,17875,NULL,'May be involved in maintaining Golgi structure.',NULL,NULL,NULL,NULL,NULL),(14941,'UniProt Function',NULL,17879,NULL,'May interact with hyaluronan which may serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix.',NULL,NULL,NULL,NULL,NULL),(14942,'UniProt Function',NULL,17880,NULL,'Peripheral membrane component of the cis-Golgi stack that acts as a membrane skeleton that maintains the structure of the Golgi apparatus, and as a vesicle thether that facilitates vesicle fusion to the Golgi membrane (Probable) (PubMed:16489344). Required for normal protein transport from the endoplasmic reticulum to the Golgi apparatus and the cell membrane (By similarity). Together with p115/USO1 and STX5, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus. Plays a central role in mitotic Golgi disassembly: phosphorylation at Ser-37 by CDK1 at the onset of mitosis inhibits the interaction with p115/USO1, preventing tethering of COPI vesicles and thereby inhibiting transport through the Golgi apparatus during mitosis (By similarity). Also plays a key role in spindle pole assembly and centrosome organization (PubMed:26165940). Promotes the mitotic spindle pole assembly by activating the spindle assembly factor TPX2 to nucleate microtubules around the Golgi and capture them to couple mitotic membranes to the spindle: upon phosphorylation at the onset of mitosis, GOLGA2 interacts with importin-alpha via the nuclear localization signal region, leading to recruit importin-alpha to the Golgi membranes and liberate the spindle assembly factor TPX2 from importin-alpha. TPX2 then activates AURKA kinase and stimulates local microtubule nucleation. Upon filament assembly, nascent microtubules are further captured by GOLGA2, thus linking Golgi membranes to the spindle (PubMed:19242490, PubMed:26165940). Regulates the meiotic spindle pole assembly, probably via the same mechanism (By similarity). Also regulates the centrosome organization (PubMed:18045989, PubMed:19109421). Also required for the Golgi ribbon formation and glycosylation of membrane and secretory proteins (PubMed:16489344, PubMed:17314401).',NULL,NULL,NULL,NULL,NULL),(14943,'UniProt Function',NULL,17881,NULL,'May be involved in protein transport from Golgi to cell surface. The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS.',NULL,NULL,NULL,NULL,NULL),(14944,'UniProt Function',NULL,17882,NULL,'May participate in forming intercisternal cross-bridges of the Golgi complex.',NULL,NULL,NULL,NULL,NULL),(14945,'UniProt Function',NULL,17883,NULL,'Plays a role in endosome to Golgi protein trafficking; mediates protein transport along the late endosome-bypass pathway from the early endosome to the Golgi.',NULL,NULL,NULL,NULL,NULL),(14946,'UniProt Function',NULL,17884,NULL,'Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.',NULL,NULL,NULL,NULL,NULL),(14947,'UniProt Function',NULL,17885,NULL,'Unknown. Cellular response protein to viral infection.',NULL,NULL,NULL,NULL,NULL),(14948,'UniProt Function',NULL,17886,NULL,'Phosphatidylinositol-4-phosphate-binding protein that links Golgi membranes to the cytoskeleton and may participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus. May also bind to the coatomer to regulate Golgi membrane trafficking. May play a role in anterograde transport from the Golgi to the plasma membrane and regulate secretion. Has also been involved in the control of the localization of Golgi enzymes through interaction with their cytoplasmic part. May play an indirect role in cell migration. Has also been involved in the modulation of mTOR signaling. May also be involved in the regulation of mitochondrial lipids biosynthesis.',NULL,NULL,NULL,NULL,NULL),(14949,'UniProt Function',NULL,17887,NULL,'Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.',NULL,NULL,NULL,NULL,NULL),(14950,'UniProt Function',NULL,17888,NULL,'Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.',NULL,NULL,NULL,NULL,NULL),(14951,'UniProt Function',NULL,17889,NULL,'Scaffolding protein that may bring different proteins into adjacent positions at the cell membrane. May regulate protein targeting, cell polarity and integrity of tight junctions. May regulate the surface expression and/or function of ASIC3 in sensory neurons. May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950).',NULL,NULL,NULL,NULL,NULL),(14952,'UniProt Function',NULL,17890,NULL,'Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide-sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an important physiological role in VLDL-transport vesicle-Golgi fusion and thus in VLDL delivery to the hepatic cis-Golgi.',NULL,NULL,NULL,NULL,NULL),(14953,'UniProt Function',NULL,17891,NULL,'Component of the receptor for type I interferons, including interferons alpha, IFNB1 and IFNW1 (PubMed:2153461, PubMed:7665574, PubMed:10049744, PubMed:14532120, PubMed:15337770, PubMed:21854986). Functions in general as heterodimer with IFNAR2 (PubMed:7665574, PubMed:10049744, PubMed:21854986). Type I interferon binding activates the JAK-STAT signaling cascade, and triggers tyrosine phosphorylation of a number of proteins including JAKs, TYK2, STAT proteins and the IFNR alpha- and beta-subunits themselves (PubMed:7665574, PubMed:21854986). Can form an active IFNB1 receptor by itself and activate a signaling cascade that does not involve activation of the JAK-STAT pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(14954,'UniProt Function',NULL,17892,NULL,'Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.',NULL,NULL,NULL,NULL,NULL),(14955,'UniProt Function',NULL,17893,NULL,'Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes.',NULL,NULL,NULL,NULL,NULL),(14956,'UniProt Function',NULL,17894,NULL,'May be involved in fusion of ER-derived transport vesicles with the Golgi complex.',NULL,NULL,NULL,NULL,NULL),(14957,'UniProt Function',NULL,17895,NULL,'Plays an important role in assembly and membrane stacking of the Golgi cisternae, and in the reassembly of Golgi stacks after breakdown during mitosis (PubMed:26363069). Key structural protein required for the maintenance of the Golgi apparatus integrity: its caspase-mediated cleavage is required for fragmentation of the Golgi during apoptosis (By similarity). Also mediates, via its interaction with GOLGA2/GM130, the docking of transport vesicles with the Golgi membranes (PubMed:16489344). Mediates ER stress-induced unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936).',NULL,NULL,NULL,NULL,NULL),(14958,'UniProt Function',NULL,17896,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14959,'UniProt Function',NULL,17897,NULL,'Involved in Golgi-to-ER retrograde transport. Functions as a host factor required for infection by Pseudomonas aeruginosa exotoxin A and Campylobacter jejuni CDT toxins.',NULL,NULL,NULL,NULL,NULL),(14960,'UniProt Function',NULL,17898,NULL,'Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Acts as a scaffold regulating CPC localization and activity. The C-terminus associates with AURKB or AURKC, the N-terminus associated with BIRC5/survivin and CDCA8/borealin tethers the CPC to the inner centromere, and the microtubule binding activity within the central SAH domain directs AURKB/C toward substrates near microtubules (PubMed:15316025, PubMed:12925766, PubMed:27332895). The flexibility of the SAH domain is proposed to allow AURKB/C to follow substrates on dynamic microtubules while ensuring CPC docking to static chromatin (By similarity). Activates AURKB and AURKC (PubMed:27332895). Required for localization of CBX5 to mitotic centromeres (PubMed:21346195). Controls the kinetochore localization of BUB1 (PubMed:16760428).',NULL,NULL,NULL,NULL,NULL),(14961,'UniProt Function',NULL,17899,NULL,'Receptor for the endogenous fatty-acid ethanolamide oleoylethanolamide (OEA) and lysophosphatidylcholine (LPC). Functions as a glucose-dependent insulinotropic receptor. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Seems to act through a G(s) mediated pathway.',NULL,NULL,NULL,NULL,NULL),(14962,'UniProt Function',NULL,17900,NULL,'May be a receptor for oxidized free fatty acids derived from linoleic and arachidonic acids such as 9-hydroxyoctadecadienoic acid (9-HODE). Activates a G alpha protein, most likely G alpha(q). May be involved in apoptosis. Functions at the G2/M checkpoint to delay mitosis. May function as a sensor that monitors the oxidative states and mediates appropriate cellular responses such as secretion of paracrine signals and attenuation of proliferation. May mediate ths accumulation of intracellular inositol phosphates at acidic pH through proton-sensing activity.',NULL,NULL,NULL,NULL,NULL),(14963,'UniProt Function',NULL,17901,NULL,'Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins.',NULL,NULL,NULL,NULL,NULL),(14964,'UniProt Function',NULL,17902,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14965,'UniProt Function',NULL,17903,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14966,'UniProt Function',NULL,17904,NULL,'Orphan receptor.',NULL,NULL,NULL,NULL,NULL),(14967,'UniProt Function',NULL,17905,NULL,'Orphan receptor involved in normal circadian rhythm behavior. Acts through the G-protein subclass G(z)-alpha and has an agonist-independent basal activity to repress cAMP production.',NULL,NULL,NULL,NULL,NULL),(14968,'UniProt Function',NULL,17906,NULL,'G-protein coupled receptor expressed in lymphocytes that acts as a chemotactic receptor for B-cells, T-cells, splenic dendritic cells, monocytes/macrophages and astrocytes (By similarity). Receptor for oxysterol 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC) and other related oxysterols (PubMed:21796212, PubMed:22875855, PubMed:22930711). Mediates cell positioning and movement of a number of cells by binding the 7-alpha,25-OHC ligand that forms a chemotactic gradient (By similarity). Binding of 7-alpha,25-OHC mediates the correct localization of B-cells during humoral immune responses (By similarity). Guides B-cell movement along the B-cell zone-T-cell zone boundary and later to interfollicular and outer follicular regions (By similarity). Its specific expression during B-cell maturation helps position B-cells appropriately for mounting T-dependent antibody responses (By similarity). Collaborates with CXCR5 to mediate B-cell migration; probably by forming a heterodimer with CXCR5 that affects the interaction between of CXCL13 and CXCR5 (PubMed:22913878). Also acts as a chemotactic receptor for some T-cells upon binding to 7-alpha,25-OHC ligand (By similarity). Promotes follicular helper T (Tfh) cells differentiation by positioning activated T-cells at the follicle-T-zone interface, promoting contact of newly activated CD4 T-cells with activated dendritic cells and exposing them to Tfh-cell-promoting inducible costimulator (ICOS) ligand (By similarity). Expression in splenic dendritic cells is required for their homeostasis, localization and ability to induce B- and T-cell responses: GPR183 acts as a chemotactic receptor in dendritic cells that mediates the accumulation of CD4(+) dendritic cells in bridging channels (By similarity). Regulates migration of astrocytes and is involved in communication between astrocytes and macrophages (PubMed:25297897). Promotes osteoclast precursor migration to bone surfaces (By similarity). Signals constitutively through G(i)-alpha, but not G(s)-alpha or G(q)-alpha (PubMed:21673108, PubMed:25297897). Signals constitutively also via MAPK1/3 (ERK1/2) (By similarity).',NULL,NULL,NULL,NULL,NULL),(14969,'UniProt Function',NULL,17907,NULL,'Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins.',NULL,NULL,NULL,NULL,NULL),(14970,'UniProt Function',NULL,17908,NULL,'Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins.',NULL,NULL,NULL,NULL,NULL),(14971,'UniProt Function',NULL,17909,NULL,'GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium.',NULL,NULL,NULL,NULL,NULL),(14972,'UniProt Function',NULL,17910,NULL,'Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium.',NULL,NULL,NULL,NULL,NULL),(14973,'UniProt Function',NULL,17911,NULL,'Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis.',NULL,NULL,NULL,NULL,NULL),(14974,'UniProt Function',NULL,17912,NULL,'Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Required for primary processing step during piRNA biosynthesis. Molecular mechanisms by which it promotes piRNA biosynthesis are unclear and do not involve its acyltransferase activity.',NULL,NULL,NULL,NULL,NULL),(14975,'UniProt Function',NULL,17913,NULL,'Cell surface proteoglycan that bears heparan sulfate. May fulfill a function related to the motile behaviors of developing neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(14976,'UniProt Function',NULL,17914,NULL,'May transfer the acyl-group from acyl-coA to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Also transfers the acyl-group from acyl-coA to the sn-2 position of 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid, or LPA), forming 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid, or PA).',NULL,NULL,NULL,NULL,NULL),(14977,'UniProt Function',NULL,17915,NULL,'Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity).',NULL,NULL,NULL,NULL,NULL),(14978,'UniProt Function',NULL,17916,NULL,'Unknown. This retinoic acid-inducible G-protein coupled receptor provide evidence for a possible interaction between retinoid and G-protein signaling pathways.',NULL,NULL,NULL,NULL,NULL),(14979,'UniProt Function',NULL,17917,NULL,'Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Active against both saturated and unsaturated long-chain fatty acyl-CoAs.',NULL,NULL,NULL,NULL,NULL),(14980,'UniProt Function',NULL,17918,NULL,'Possible transcription factor.',NULL,NULL,NULL,NULL,NULL),(14981,'UniProt Function',NULL,17919,NULL,'Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L.',NULL,NULL,NULL,NULL,NULL),(14982,'UniProt Function',NULL,17921,NULL,'May function as an adapter linking the Par3 complex to the GPSM1/GPSM2 complex (PubMed:16458856). Involved in spindle orientation during mitosis. May regulate cell proliferation and differentiation in the developing nervous system. May play a role in the asymmetric division of fibroblasts and participate in the process of stratification of the squamous epithelium (By similarity).',NULL,NULL,NULL,NULL,NULL),(14983,'UniProt Function',NULL,17922,NULL,'Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Initiates the sterol-mediated ubiquitin-mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase to the ubiquitin ligase, AMFR/gp78. May play a role in growth and differentiation of tissues involved in metabolic control. May play a regulatory role during G0/G1 transition of cell growth.',NULL,NULL,NULL,NULL,NULL),(14984,'UniProt Function',NULL,17924,NULL,'May have a role in gut contractility or in thymic development and regulation. Activates RXFP4 with high potency and appears to be the endogenous ligand for this receptor.',NULL,NULL,NULL,NULL,NULL),(14985,'UniProt Function',NULL,17925,NULL,'Component of the protein machinery at the inhibitory synapses, probably acting as a scaffold. Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. This synaptic inhibition is fundamental for the functioning of the central nervous system, shaping and orchestrating the flow of information through neuronal networks to generate a precise neural code.',NULL,NULL,NULL,NULL,NULL),(14986,'UniProt Function',NULL,17926,NULL,'Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver.',NULL,NULL,NULL,NULL,NULL),(14987,'UniProt Function',NULL,17927,NULL,'Catalytic component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Mediates the snRNAs 3\' cleavage. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).',NULL,NULL,NULL,NULL,NULL),(14988,'UniProt Function',NULL,17929,NULL,'Functions as a heterodimeric glycoprotein hormone with GPHA2 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production. Plays a central role in controlling thyroid cell metabolism.',NULL,NULL,NULL,NULL,NULL),(14989,'UniProt Function',NULL,17930,NULL,'Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.',NULL,NULL,NULL,NULL,NULL),(14990,'UniProt Function',NULL,17931,NULL,'RNA-binding protein involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(14991,'UniProt Function',NULL,17932,NULL,'Responsible for the deiodination of T4 (3,5,3\',5\'-tetraiodothyronine) into RT3 (3,3\',5\'-triiodothyronine) and of T3 (3,5,3\'-triiodothyronine) into T2 (3,3\'-diiodothyronine). RT3 and T2 are inactive metabolites. May play a role in preventing premature exposure of developing fetal tissues to adult levels of thyroid hormones. Can regulate circulating fetal thyroid hormone concentrations throughout gestation. Essential role for regulation of thyroid hormone inactivation during embryological development.',NULL,NULL,NULL,NULL,NULL),(14992,'UniProt Function',NULL,17933,NULL,'Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains.',NULL,NULL,NULL,NULL,NULL),(14993,'UniProt Function',NULL,17934,NULL,'Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains.',NULL,NULL,NULL,NULL,NULL),(14994,'UniProt Function',NULL,17935,NULL,'Inositol phosphate kinase with a broad substrate specificity. Has a preference for inositol 1,4,5-trisphosphate (Ins(1,4,5)P3) and inositol 1,3,4,6-tetrakisphosphate (Ins(1,3,4,6)P4) (PubMed:12027805, PubMed:12223481). Plays an important role in MLKL-mediated necroptosis. Produces highly phosphorylated inositol phosphates such as inositolhexakisphosphate (InsP6) which bind to MLKL mediating the release of an N-terminal auto-inhibitory region leading to its activation. Essential for activated phospho-MLKL to oligomerize and localize to the cell membrane during necroptosis (PubMed:29883610).',NULL,NULL,NULL,NULL,NULL),(14995,'UniProt Function',NULL,17936,NULL,'Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of UBE2E3, and of RPL12 (By similarity).',NULL,NULL,NULL,NULL,NULL),(14996,'UniProt Function',NULL,17937,NULL,'Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of RPS3A. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS.',NULL,NULL,NULL,NULL,NULL),(14997,'UniProt Function',NULL,17938,NULL,'Functions in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates autonomously the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In association with KPNB1 mediates the nuclear import of H1 histone and the Ran-binding site of IPO7 is not required but synergizes with that of KPNB1 in importin/substrate complex dissociation. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones.',NULL,NULL,NULL,NULL,NULL),(14998,'UniProt Function',NULL,17938,NULL,'(Microbial infection) Mediates the nuclear import of HIV-1 reverse transcription complex (RTC) integrase. Binds and mediates the nuclear import of HIV-1 Rev.',NULL,NULL,NULL,NULL,NULL),(14999,'UniProt Function',NULL,17939,NULL,'Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene.',NULL,NULL,NULL,NULL,NULL),(15000,'UniProt Function',NULL,17941,NULL,'Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Involved in the MET/HGF-signaling pathway (PubMed:29408807).',NULL,NULL,NULL,NULL,NULL),(15001,'UniProt Function',NULL,17942,NULL,'Seems to be involved in the cross-linking of microtubules and microfilaments.',NULL,NULL,NULL,NULL,NULL),(15002,'UniProt Function',NULL,17943,NULL,'May catalyze the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. Does not exhibit any decarboxylation activity toward glutamate.',NULL,NULL,NULL,NULL,NULL),(15003,'UniProt Function',NULL,17944,NULL,'The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(15004,'UniProt Function',NULL,17945,NULL,'The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(15005,'UniProt Function',NULL,17946,NULL,'Receptor for the hormone galanin and GALP. Receptor for the hormone spexin-1 (PubMed:24517231). The activity of this receptor is mediated by G proteins that activate the phospholipase C/protein kinase C pathway (via G(q)) and that inhibit adenylyl cyclase (via G(i)).',NULL,NULL,NULL,NULL,NULL),(15006,'UniProt Function',NULL,17947,NULL,'Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC).',NULL,NULL,NULL,NULL,NULL),(15007,'UniProt Function',NULL,17948,NULL,'Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signaling in a dose-dependent manner (By similarity). Antagonist of BMP2; inhibits BMP2-mediated differentiation of osteoblasts (in vitro) (PubMed:27036124). Acts as inhibitor of monocyte chemotaxis. Can inhibit the growth or viability of normal cells but not transformed cells when is overexpressed (By similarity).',NULL,NULL,NULL,NULL,NULL),(15008,'UniProt Function',NULL,17949,NULL,'May play a role in estrogen-stimulated cell proliferation. Acts as a regulator of hormone-dependent cancer growth in breast and prostate cancers.',NULL,NULL,NULL,NULL,NULL),(15009,'UniProt Function',NULL,17950,NULL,'Cytokine that inhibits the activity of BMP2 and BMP4 in a dose-dependent manner, and thereby modulates signaling by BMP family members. Contributes to the regulation of embryonic morphogenesis via BMP family members. Antagonizes BMP4-induced suppression of progesterone production in granulosa cells.',NULL,NULL,NULL,NULL,NULL),(15010,'UniProt Function',NULL,17951,NULL,'Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5\'-AACCGGTT-3\' acting as an activator and repressor on distinct target genes (PubMed:21081122, PubMed:25347468). xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity). Exhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair but is essential to form the epidermal barrier with TGM3 as critical direct target gene among others. Despite being dispensable during normal epidermal homeostasis in the adulthood, is again required for barrier repair after immune-mediated epidermal damage, regulates distinct gene batteries in embryonic epidermal differentiation and adult epidermal barrier reformation after injury. Plays unique and cooperative roles with GRHL2 in establishing distinct zones of primary neurulation. Essential for spinal closure, functions cooperatively with GRHL2 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Also required for proper development of the oral periderm (PubMed:24360809). No genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity (PubMed:21081122).',NULL,NULL,NULL,NULL,NULL),(15011,'UniProt Function',NULL,17952,NULL,'Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate.',NULL,NULL,NULL,NULL,NULL),(15012,'UniProt Function',NULL,17953,NULL,'Heparin-dependent serine protease inhibitor acting in body fluids and secretions. Inactivates serine proteases by binding irreversibly to their serine activation site. Involved in the regulation of intravascular and extravascular proteolytic activities. Plays hemostatic roles in the blood plasma. Acts as a procoagulant and proinflammatory factor by inhibiting the anticoagulant activated protein C factor as well as the generation of activated protein C factor by the thrombin/thrombomodulin complex. Acts as an anticoagulant factor by inhibiting blood coagulation factors like prothrombin, factor XI, factor Xa, plasma kallikrein and fibrinolytic enzymes such as tissue- and urinary-type plasminogen activators. In seminal plasma, inactivates several serine proteases implicated in the reproductive system. Inhibits the serpin acrosin; indirectly protects component of the male genital tract from being degraded by excessive released acrosin. Inhibits tissue-and urinary-type plasminogen activator, prostate-specific antigen and kallikrein activities; has a control on the sperm motility and fertilization. Inhibits the activated protein C-catalyzed degradation of SEMG1 and SEMG2; regulates the degradation of semenogelin during the process of transfer of spermatozoa from the male reproductive tract into the female tract. In urine, inhibits urinary-type plasminogen activator and kallikrein activities. Inactivates membrane-anchored serine proteases activities such as MPRSS7 and TMPRSS11E. Inhibits urinary-type plasminogen activator-dependent tumor cell invasion and metastasis. May also play a non-inhibitory role in seminal plasma and urine as a hydrophobic hormone carrier by its binding to retinoic acid.',NULL,NULL,NULL,NULL,NULL),(15013,'UniProt Function',NULL,17954,NULL,'Transcription factor playing an important role in primary neurulation and in epithelial development (PubMed:29309642, PubMed:25152456). Binds directly to the consensus DNA sequence 5\'-AACCGGTT-3\' acting as an activator and repressor on distinct target genes (By similarity). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Regulates epithelial morphogenesis acting as a target gene-associated transcriptional activator of apical junctional complex components. Up-regulates of CLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4 protein and its localization at tight junctions (By similarity). Comprises an essential component of the transcriptional machinery that establishes appropriate expression levels of CLDN4 and CDH1 in different types of epithelia. Exhibits functional redundancy with GRHL3 in epidermal morphogenetic events and epidermal wound repair (By similarity). In lung, forms a regulatory loop with NKX2-1 that coordinates lung epithelial cell morphogenesis and differentiation (By similarity). In keratinocytes, plays a role in telomerase activation during cellular proliferation, regulates TERT expression by binding to TERT promoter region and inhibiting DNA methylation at the 5\'-CpG island, possibly by interfering with DNMT1 enzyme activity (PubMed:19015635, PubMed:20938050). In addition, impairs keratinocyte differentiation and epidermal function by inhibiting the expression of genes clustered at the epidermal differentiation complex (EDC) as well as GRHL1 and GRHL3 through epigenetic mechanisms (PubMed:23254293).',NULL,NULL,NULL,NULL,NULL),(15014,'UniProt Function',NULL,17955,NULL,'May be involved in neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(15015,'UniProt Function',NULL,17956,NULL,'May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons.',NULL,NULL,NULL,NULL,NULL),(15016,'UniProt Function',NULL,17957,NULL,'Serine/threonine kinase that phosphorylates preferentially the activated forms of a variety of G-protein-coupled receptors (GPCRs). Such receptor phosphorylation initiates beta-arrestin-mediated receptor desensitization, internalization, and signaling events leading to their down-regulation. Phosphorylates a variety of GPCRs, including adrenergic receptors, muscarinic acetylcholine receptors (more specifically Gi-coupled M2/M4 subtypes), dopamine receptors and opioid receptors. In addition to GPCRs, also phosphorylates various substrates: Hsc70-interacting protein/ST13, TP53/p53, HDAC5, and arrestin-1/ARRB1. Phosphorylation of ARRB1 by GRK5 inhibits G-protein independent MAPK1/MAPK3 signaling downstream of 5HT4-receptors. Phosphorylation of HDAC5, a repressor of myocyte enhancer factor 2 (MEF2) leading to nuclear export of HDAC5 and allowing MEF2-mediated transcription. Phosphorylation of TP53/p53, a crucial tumor suppressor, inhibits TP53/p53-mediated apoptosis. Phosphorylation of ST13 regulates internalization of the chemokine receptor. Phosphorylates rhodopsin (RHO) (in vitro) and a non G-protein-coupled receptor, LRP6 during Wnt signaling (in vitro).',NULL,NULL,NULL,NULL,NULL),(15017,'UniProt Function',NULL,17959,NULL,'G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling inhibits adenylate cyclase activity.',NULL,NULL,NULL,NULL,NULL),(15018,'UniProt Function',NULL,17960,NULL,'G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity (By similarity). Signaling stimulates TRPM1 channel activity and Ca(2+) uptake. Required for normal vision.',NULL,NULL,NULL,NULL,NULL),(15019,'UniProt Function',NULL,17961,NULL,'Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses. These include the regulation of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during hematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage. Stimulates both innate and acquired immune responses through the activation of specific target genes and can act as a transcriptional activator and repressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters. Its target genes for transcriptional activation activity include: genes involved in anti-viral response, such as IFN-alpha/beta, DDX58/RIG-I, TNFSF10/TRAIL, OAS1/2, PIAS1/GBP, EIF2AK2/PKR and RSAD2/viperin; antibacterial response, such as NOS2/INOS; anti-proliferative response, such as p53/TP53, LOX and CDKN1A; apoptosis, such as BBC3/PUMA, CASP1, CASP7 and CASP8; immune response, such as IL7, IL12A/B and IL15, PTGS2/COX2 and CYBB; DNA damage responses and DNA repair, such as POLQ/POLH; MHC class I expression, such as TAP1, PSMB9/LMP2, PSME1/PA28A, PSME2/PA28B and B2M and MHC class II expression, such as CIITA. Represses genes involved in anti-proliferative response, such as BIRC5/survivin, CCNB1, CCNE1, CDK1, CDK2 and CDK4 and in immune response, such as FOXP3, IL4, ANXA2 and TLR4. Stimulates p53/TP53-dependent transcription through enhanced recruitment of EP300 leading to increased acetylation of p53/TP53. Plays an important role in immune response directly affecting NK maturation and activity, macrophage production of IL12, Th1 development and maturation of CD8+ T-cells. Also implicated in the differentiation and maturation of dendritic cells and in the suppression of regulatory T (Treg) cells development. Acts as a tumor suppressor and plays a role not only in antagonism of tumor cell growth but also in stimulating an immune response against tumor cells.',NULL,NULL,NULL,NULL,NULL),(15020,'UniProt Function',NULL,17962,NULL,'Specifically binds to the upstream regulatory region of type I IFN and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)) and represses those genes. Also acts as an activator for several genes including H4 and IL7. Constitutively binds to the ISRE promoter to activate IL7. Involved in cell cycle regulation through binding the site II (HiNF-M) promoter region of H4 and activating transcription during cell growth. Antagonizes IRF1 transcriptional activation.',NULL,NULL,NULL,NULL,NULL),(15021,'UniProt Function',NULL,17963,NULL,'Transcription factor involved in the induction of interferons IFNA and INFB and inflammatory cytokines upon virus infection. Activated by TLR7 or TLR8 signaling.',NULL,NULL,NULL,NULL,NULL),(15022,'UniProt Function',NULL,17964,NULL,'Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity).',NULL,NULL,NULL,NULL,NULL),(15023,'UniProt Function',NULL,17965,NULL,'The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores (PubMed:27281216). The physiological relevance of this observation is unknown (Probable).',NULL,NULL,NULL,NULL,NULL),(15024,'UniProt Function',NULL,17967,NULL,'May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC.',NULL,NULL,NULL,NULL,NULL),(15025,'UniProt Function',NULL,17968,NULL,'Maintains high levels of reduced glutathione in the cytosol.',NULL,NULL,NULL,NULL,NULL),(15026,'UniProt Function',NULL,17969,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. May govern uptake and detoxification of both endogenous compounds and xenobiotics at the testis and brain blood barriers.',NULL,NULL,NULL,NULL,NULL),(15027,'UniProt Function',NULL,17970,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Acts on 1,2-epoxy-3-(4-nitrophenoxy)propane, phenethylisothiocyanate 4-nitrobenzyl chloride and 4-nitrophenethyl bromide. Displays glutathione peroxidase activity with cumene hydroperoxide.',NULL,NULL,NULL,NULL,NULL),(15028,'UniProt Function',NULL,17971,NULL,'Binds fibroblast growth factor and E-selectin (cell-adhesion lectin on endothelial cells mediating the binding of neutrophils).',NULL,NULL,NULL,NULL,NULL),(15029,'UniProt Function',NULL,17972,NULL,'Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1.',NULL,NULL,NULL,NULL,NULL),(15030,'UniProt Function',NULL,17973,NULL,'Putative voltage-gated potassium channel.',NULL,NULL,NULL,NULL,NULL),(15031,'UniProt Function',NULL,17974,NULL,'Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr) (PubMed:18559421, PubMed:26363003, PubMed:27916661).',NULL,NULL,NULL,NULL,NULL),(15032,'UniProt Function',NULL,17974,NULL,'Isoform A-USO: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.',NULL,NULL,NULL,NULL,NULL),(15033,'UniProt Function',NULL,17974,NULL,'Isoform B-USO: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.',NULL,NULL,NULL,NULL,NULL),(15034,'UniProt Function',NULL,17976,NULL,'In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium.',NULL,NULL,NULL,NULL,NULL),(15035,'UniProt Function',NULL,17977,NULL,'This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium.',NULL,NULL,NULL,NULL,NULL),(15036,'UniProt Function',NULL,17978,NULL,'Involved in the de novo synthesis of guanine nucleotides which are not only essential for DNA and RNA synthesis, but also provide GTP, which is involved in a number of cellular processes important for cell division.',NULL,NULL,NULL,NULL,NULL),(15037,'UniProt Function',NULL,17979,NULL,'pH-dependent, voltage-insensitive, background potassium channel protein.',NULL,NULL,NULL,NULL,NULL),(15038,'UniProt Function',NULL,17980,NULL,'Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. Activated by arachidonic acid and other naturally occurring unsaturated free fatty acids.',NULL,NULL,NULL,NULL,NULL),(15039,'UniProt Function',NULL,17981,NULL,'Potassium channel displaying weak inward rectification in symmetrical K(+) solution.',NULL,NULL,NULL,NULL,NULL),(15040,'UniProt Function',NULL,17982,NULL,'Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents.',NULL,NULL,NULL,NULL,NULL),(15041,'UniProt Function',NULL,17983,NULL,'Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin.',NULL,NULL,NULL,NULL,NULL),(15042,'UniProt Function',NULL,17985,NULL,'Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to 1-myo-inositol 1-phosphate in a NAD-dependent manner. Rate-limiting enzyme in the synthesis of all inositol-containing compounds.',NULL,NULL,NULL,NULL,NULL),(15043,'UniProt Function',NULL,17986,NULL,'May play a role in cell-cell recognition and signaling.',NULL,NULL,NULL,NULL,NULL),(15044,'UniProt Function',NULL,17989,NULL,'Cell surface proteoglycan that bears heparan sulfate. Binds, via the heparan sulfate side chains, alpha-4 (V) collagen and participates in Schwann cell myelination (By similarity). May act as a catalyst in increasing the rate of conversion of prion protein PRPN(C) to PRNP(Sc) via associating (via the heparan sulfate side chains) with both forms of PRPN, targeting them to lipid rafts and facilitating their interaction. Required for proper skeletal muscle differentiation by sequestering FGF2 in lipid rafts preventing its binding to receptors (FGFRs) and inhibiting the FGF-mediated signaling.',NULL,NULL,NULL,NULL,NULL),(15045,'UniProt Function',NULL,17990,NULL,'Cell surface proteoglycan that bears heparan sulfate (PubMed:14610063). Negatively regulates the hedgehog signaling pathway when attached via the GPI-anchor to the cell surface by competing with the hedgehog receptor PTC1 for binding to hedgehog proteins (By similarity). Binding to the hedgehog protein SHH triggers internalization of the complex by endocytosis and its subsequent lysosomal degradation (By similarity). Positively regulates the canonical Wnt signaling pathway by binding to the Wnt receptor Frizzled and stimulating the binding of the Frizzled receptor to Wnt ligands (PubMed:16227623, PubMed:24496449). Positively regulates the non-canonical Wnt signaling pathway (By similarity). Binds to CD81 which decreases the availability of free CD81 for binding to the transcriptional repressor HHEX, resulting in nuclear translocation of HHEX and transcriptional repression (By similarity). Inhibits the dipeptidyl peptidase activity of DPP4 (PubMed:17549790). Plays a role in limb patterning and skeletal development by controlling the cellular response to BMP4 (By similarity). Modulates the effects of growth factors BMP2, BMP7 and FGF7 on renal branching morphogenesis (By similarity). Required for coronary vascular development (By similarity). Plays a role in regulating cell movements during gastrulation (By similarity).',NULL,NULL,NULL,NULL,NULL),(15046,'UniProt Function',NULL,17991,NULL,'Cell surface proteoglycan that bears heparan sulfate.',NULL,NULL,NULL,NULL,NULL),(15047,'UniProt Function',NULL,17992,NULL,'Receptor activated by amino acids with a preference for basic amino acids such as L-Lys, L-Arg and L-ornithine but also by small and polar amino acids. The L-alpha amino acids respond is augmented by divalent cations Ca(2+) and Mg(2+). Activated by extracellular calcium and osteocalcin. Seems to act through a G(q)/G(11) and G(i)-coupled pathway. Mediates the non-genomic effects of androgens in multiple tissue. May coordinate nutritional and hormonal anabolic signals through the sensing of extracellular amino acids, osteocalcin, divalent ions and its responsiveness to anabolic steroids.',NULL,NULL,NULL,NULL,NULL),(15048,'UniProt Function',NULL,17993,NULL,'Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5-trisphosphate (PubMed:10753883). Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (By similarity).',NULL,NULL,NULL,NULL,NULL),(15049,'UniProt Function',NULL,17994,NULL,'May have a role in sperm development and fertilization.',NULL,NULL,NULL,NULL,NULL),(15050,'UniProt Function',NULL,17995,NULL,'May function as a growth suppressor or tumor suppressor in liver cells and in certain neurons.',NULL,NULL,NULL,NULL,NULL),(15051,'UniProt Function',NULL,17997,NULL,'Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). May be not involved in the recruitment of cytoplasmic dynein to the nuclear envelope by different components of the INT complex (PubMed:23904267).',NULL,NULL,NULL,NULL,NULL),(15052,'UniProt Function',NULL,17998,NULL,'Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (PubMed:16239144). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).',NULL,NULL,NULL,NULL,NULL),(15053,'UniProt Function',NULL,17999,NULL,'Crucial regulator of the mitotic cell cycle and development. At prophase, required for dynein anchoring to the nuclear envelope important for proper centrosome-nucleus coupling. At G2/M phase, may be required for proper spindle formation and execution of cytokinesis. Probable component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing (PubMed:23904267).',NULL,NULL,NULL,NULL,NULL),(15054,'UniProt Function',NULL,18000,NULL,'Probable component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing.',NULL,NULL,NULL,NULL,NULL),(15055,'UniProt Function',NULL,18001,NULL,'Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).',NULL,NULL,NULL,NULL,NULL),(15056,'UniProt Function',NULL,18002,NULL,'Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).',NULL,NULL,NULL,NULL,NULL),(15057,'UniProt Function',NULL,18003,NULL,'Component of the Integrator (INT) complex. The Integrator complex is involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).',NULL,NULL,NULL,NULL,NULL),(15058,'UniProt Function',NULL,18003,NULL,'Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. The SOSS complex associates with single-stranded DNA at DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. The SOSS complex is required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways. In the SOSS complex, it is required for the assembly of the complex and for stabilization of the complex at DNA damage sites.',NULL,NULL,NULL,NULL,NULL),(15059,'UniProt Function',NULL,18004,NULL,'Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).',NULL,NULL,NULL,NULL,NULL),(15060,'UniProt Function',NULL,18005,NULL,'Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).',NULL,NULL,NULL,NULL,NULL),(15061,'UniProt Function',NULL,18006,NULL,'Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Plays a role in DNA damage response (DDR) signaling during the S phase (PubMed:21659603). May be not involved in the recruitment of cytoplasmic dynein to the nuclear envelope by different components of the INT complex (PubMed:23904267).',NULL,NULL,NULL,NULL,NULL),(15062,'UniProt Function',NULL,18007,NULL,'Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).',NULL,NULL,NULL,NULL,NULL),(15063,'UniProt Function',NULL,18008,NULL,'G-protein coupled estrogen receptor that binds to 17-beta-estradiol (E2) with high affinity, leading to rapid and transient activation of numerous intracellular signaling pathways. Stimulates cAMP production, calcium mobilization and tyrosine kinase Src inducing the release of heparin-bound epidermal growth factor (HB-EGF) and subsequent transactivation of the epidermal growth factor receptor (EGFR), activating downstream signaling pathways such as PI3K/Akt and ERK/MAPK. Mediates pleiotropic functions among others in the cardiovascular, endocrine, reproductive, immune and central nervous systems. Has a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a RAMP3-dependent manner. Regulates arterial blood pressure by stimulating vasodilation and reducing vascular smooth muscle and microvascular endothelial cell proliferation. Plays a role in blood glucose homeostasis contributing to the insulin secretion response by pancreatic beta cells. Triggers mitochondrial apoptosis during pachytene spermatocyte differentiation. Stimulates uterine epithelial cell proliferation. Enhances uterine contractility in response to oxytocin. Contributes to thymic atrophy by inducing apoptosis. Attenuates TNF-mediated endothelial expression of leukocyte adhesion molecules. Promotes neuritogenesis in developing hippocampal neurons. Plays a role in acute neuroprotection against NMDA-induced excitotoxic neuronal death. Increases firing activity and intracellular calcium oscillations in luteinizing hormone-releasing hormone (LHRH) neurons. Inhibits early osteoblast proliferation at growth plate during skeletal development. Inhibits mature adipocyte differentiation and lipid accumulation. Involved in the recruitment of beta-arrestin 2 ARRB2 at the plasma membrane in epithelial cells. Functions also as a receptor for aldosterone mediating rapid regulation of vascular contractibility through the PI3K/ERK signaling pathway. Involved in cancer progression regulation. Stimulates cancer-associated fibroblast (CAF) proliferation by a rapid genomic response through the EGFR/ERK transduction pathway. Associated with EGFR, may act as a transcription factor activating growth regulatory genes (c-fos, cyclin D1). Promotes integrin alpha-5/beta-1 and fibronectin (FN) matrix assembly in breast cancer cells.',NULL,NULL,NULL,NULL,NULL),(15064,'UniProt Function',NULL,18009,NULL,'Plays a key role in ciliogenesis and embryonic development. Regulator of cilia formation by controlling the organization of the apical actin cytoskeleton and the positioning of the basal bodies at the apical cell surface, which in turn is essential for the normal orientation of elongating ciliary microtubules. Plays a key role in definition of cell polarity via its role in ciliogenesis but not via conversion extension. Has an indirect effect on hedgehog signaling (By similarity). Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (PubMed:27158779).',NULL,NULL,NULL,NULL,NULL),(15065,'UniProt Function',NULL,18010,NULL,'Functions as a heterodimeric glycoprotein hormone with GPHB5 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production (PubMed:12045258). Plays a central role in controlling thyroid cell metabolism (PubMed:12045258).',NULL,NULL,NULL,NULL,NULL),(15066,'UniProt Function',NULL,18011,NULL,'May be involved in neural development. Involved in regulation of osteoblast function and bone formation. Involved in matrix vesicle release by osteoblasts; this function seems to involve maintenance of the actin cytoskeleton. May be involved in cellular trafficking of SERT and thereby in regulation of serotonin uptake.',NULL,NULL,NULL,NULL,NULL),(15067,'UniProt Function',NULL,18012,NULL,'Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains.',NULL,NULL,NULL,NULL,NULL),(15068,'UniProt Function',NULL,18013,NULL,'Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:19219384). Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).',NULL,NULL,NULL,NULL,NULL),(15069,'UniProt Function',NULL,18014,NULL,'Exhibits glutathione-dependent thiol transferase and dehydroascorbate reductase activities. Has S-(phenacyl)glutathione reductase activity. Has also glutathione S-transferase activity. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA) and dimethylarsonic acid.',NULL,NULL,NULL,NULL,NULL),(15070,'UniProt Function',NULL,18015,NULL,'Significant glutathione conjugating activity is found only with the model substrate, 1-chloro-2,4-dinitrobenzene (CDNB).',NULL,NULL,NULL,NULL,NULL),(15071,'UniProt Function',NULL,18016,NULL,'During telencephalic development, causes ventralization of pallial progenitors and, depending on the developmental stage, specifies different neuronal fates. At early stages, necessary and sufficient to correctly specify the ventral lateral ganglionic eminence (LGE) and its major derivatives, the striatal projection neurons. At later stages, may specify LGE progenitors toward dorsal LGE fates, including olfactory bulb interneurons (By similarity). Transcription factor that binds 5\'-CNAATTAG-3\' DNA sequence.',NULL,NULL,NULL,NULL,NULL),(15072,'UniProt Function',NULL,18017,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.',NULL,NULL,NULL,NULL,NULL),(15073,'UniProt Function',NULL,18018,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.',NULL,NULL,NULL,NULL,NULL),(15074,'UniProt Function',NULL,18019,NULL,'Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation.',NULL,NULL,NULL,NULL,NULL),(15075,'UniProt Function',NULL,18021,NULL,'Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells.',NULL,NULL,NULL,NULL,NULL),(15076,'UniProt Function',NULL,18022,NULL,'D-glutamate cyclase that converts D-glutamate to 5-oxo-D-proline.',NULL,NULL,NULL,NULL,NULL),(15077,'UniProt Function',NULL,18023,NULL,'Insulin-regulated facilitative glucose transporter.',NULL,NULL,NULL,NULL,NULL),(15078,'UniProt Function',NULL,18024,NULL,'Interconversion of serine and glycine (PubMed:8505317, PubMed:24698160).',NULL,NULL,NULL,NULL,NULL),(15079,'UniProt Function',NULL,18025,NULL,'Functions in nuclear protein import.',NULL,NULL,NULL,NULL,NULL),(15080,'UniProt Function',NULL,18026,NULL,'Functions in nuclear protein import, either in association with an adapter protein, like an importin-alpha subunit, which binds to nuclear localization signals (NLS) in cargo substrates, or by acting as autonomous nuclear transport receptor. Acting autonomously, serves itself as NLS receptor. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates autonomously the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In association with IPO7 mediates the nuclear import of H1 histone. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev. Imports SNAI1 and PRKCI into the nucleus.',NULL,NULL,NULL,NULL,NULL),(15081,'UniProt Function',NULL,18027,NULL,'Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53 probably by modulating the nucleocytoplasmic transport (By similarity).',NULL,NULL,NULL,NULL,NULL),(15082,'UniProt Function',NULL,18028,NULL,'Possible function in spermatogenesis. Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312).',NULL,NULL,NULL,NULL,NULL),(15083,'UniProt Function',NULL,18029,NULL,'Catalyzes the conversion of inosine 5\'-phosphate (IMP) to xanthosine 5\'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.',NULL,NULL,NULL,NULL,NULL),(15084,'UniProt Function',NULL,18031,NULL,'Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO.',NULL,NULL,NULL,NULL,NULL),(15085,'UniProt Function',NULL,18032,NULL,'May be required to maintain the proliferative capacity of stem cells. Stabilizes MDM2 by preventing its ubiquitination, and hence proteasomal degradation (By similarity).',NULL,NULL,NULL,NULL,NULL),(15086,'UniProt Function',NULL,18033,NULL,'Antimicrobial protein that kills intracellular pathogens. Active against a broad range of microbes, including Gram-positive and Gram-negative bacteria, fungi, and parasites. Kills Mycobacterium tuberculosis.',NULL,NULL,NULL,NULL,NULL),(15087,'UniProt Function',NULL,18034,NULL,'Catalyzes the methylation of glycine by using S-adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy). Possible crucial role in the regulation of tissue concentration of AdoMet and of metabolism of methionine.',NULL,NULL,NULL,NULL,NULL),(15088,'UniProt Function',NULL,18035,NULL,'Stimulates the dissociation of GDP from the Ras-related RalA and RalB GTPases which allows GTP binding and activation of the GTPases. Interacts and acts as an effector molecule for R-Ras, H-Ras, K-Ras, and Rap.',NULL,NULL,NULL,NULL,NULL),(15089,'UniProt Function',NULL,18037,NULL,'Responsible for the provision of inositol required for synthesis of phosphatidylinositol and polyphosphoinositides and has been implicated as the pharmacological target for lithium action in brain. Has broad substrate specificity and can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4-diphosphate, scyllo-inositol-phosphate, D-galactose 1-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2\'-AMP as substrates.',NULL,NULL,NULL,NULL,NULL),(15090,'UniProt Function',NULL,18038,NULL,'Can use myo-inositol monophosphates, scylloinositol 1,4-diphosphate, glucose-1-phosphate, beta-glycerophosphate, and 2\'-AMP as substrates. Has been implicated as the pharmacological target for lithium Li(+) action in brain.',NULL,NULL,NULL,NULL,NULL),(15091,'UniProt Function',NULL,18039,NULL,'Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling.',NULL,NULL,NULL,NULL,NULL),(15092,'UniProt Function',NULL,18040,NULL,'Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface.',NULL,NULL,NULL,NULL,NULL),(15093,'UniProt Function',NULL,18045,NULL,'May be involved in protein transport from Golgi to cell surface.',NULL,NULL,NULL,NULL,NULL),(15094,'UniProt Function',NULL,18050,NULL,'Involved in vesicular trafficking at the Golgi apparatus level. May play a role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with MACF1. Involved in endosome-to-Golgi trafficking (PubMed:29084197).',NULL,NULL,NULL,NULL,NULL),(15095,'UniProt Function',NULL,18051,NULL,'Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Binds heparin.',NULL,NULL,NULL,NULL,NULL),(15096,'UniProt Function',NULL,18052,NULL,'Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate (Probable). Plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3,4-bisphosphate in membrane ruffles (PubMed:24591580).',NULL,NULL,NULL,NULL,NULL),(15097,'UniProt Function',NULL,18053,NULL,'May be involved in the negative regulation of skeletal muscle differentiation, independently of its glycerophosphocholine phosphodiesterase activity.',NULL,NULL,NULL,NULL,NULL),(15098,'UniProt Function',NULL,18054,NULL,'Functions as a GC-rich promoter-specific transactivating transcription factor.',NULL,NULL,NULL,NULL,NULL),(15099,'UniProt Function',NULL,18055,NULL,'Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2, and phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Specific for lipid substrates, inactive towards water soluble inositol phosphates.',NULL,NULL,NULL,NULL,NULL),(15100,'UniProt Function',NULL,18056,NULL,'Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Seems to regulate the ubiquitin-mediated proteasomal degradation of HMGCR.',NULL,NULL,NULL,NULL,NULL),(15101,'UniProt Function',NULL,18057,NULL,'Seems to play a role in testicular function. May be a trophic hormone with a role in testicular descent in fetal life. Is a ligand for LGR8 receptor.',NULL,NULL,NULL,NULL,NULL),(15102,'UniProt Function',NULL,18058,NULL,'May play an important role in trophoblast development and in the regulation of bone formation.',NULL,NULL,NULL,NULL,NULL),(15103,'UniProt Function',NULL,18059,NULL,'Sequence-specific DNA-binding transcriptional regulator that plays a key role in neurogenesis and neuroendocrine cell differentiation during embryonic and/or fetal development. Binds to the consensus sequence 5\'-[TG][TC][TC][TT][GA]GGG[CG]A-3\' in target promoters. Acts as a transcriptional repressor of NEUROD1 and INS expression via its interaction with cyclin CCND1 in a cell cycle-independent manner. Negatively regulates skeletal muscle-specific gene expression in endocrine cells of the pituitary by inhibiting the Notch signaling pathway. Represses target gene transcription by recruiting chromatin-modifying factors, such as HDAC1, HDAC2, HDAC3, KDM1A and RCOR1 histone deacetylases. Binds to its own promoter, suggesting autoregulation as a self-control feedback mechanism. Promotes the generation and expansion of neuronal basal progenitor cells in the developing neocortex. Involved in the differentiation of endocrine cells of the developing anterior pituitary gland, of the pancreas and intestine, and of sympatho-adrenal cells in the peripheral nervous system. Promotes cell cycle signaling arrest and inhibition of cellular proliferation.',NULL,NULL,NULL,NULL,NULL),(15104,'UniProt Function',NULL,18060,NULL,'Receptor with tyrosine-protein kinase activity. Functions as a pH sensing receptor which is activated by increased extracellular pH. Activates an intracellular signaling pathway that involves IRS1 and AKT1/PKB.',NULL,NULL,NULL,NULL,NULL),(15105,'UniProt Function',NULL,18061,NULL,'Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC, GAB1, CBL and other signaling intermediates. Each of these phosphorylated proteins serve as docking proteins for other signaling proteins that contain Src-homology-2 domains (SH2 domain) that specifically recognize different phosphotyrosine residues, including the p85 regulatory subunit of PI3K and SHP2. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway, which is responsible for most of the metabolic actions of insulin, and the Ras-MAPK pathway, which regulates expression of some genes and cooperates with the PI3K pathway to control cell growth and differentiation. Binding of the SH2 domains of PI3K to phosphotyrosines on IRS1 leads to the activation of PI3K and the generation of phosphatidylinositol-(3, 4, 5)-triphosphate (PIP3), a lipid second messenger, which activates several PIP3-dependent serine/threonine kinases, such as PDPK1 and subsequently AKT/PKB. The net effect of this pathway is to produce a translocation of the glucose transporter SLC2A4/GLUT4 from cytoplasmic vesicles to the cell membrane to facilitate glucose transport. Moreover, upon insulin stimulation, activated AKT/PKB is responsible for: anti-apoptotic effect of insulin by inducing phosphorylation of BAD; regulates the expression of gluconeogenic and lipogenic enzymes by controlling the activity of the winged helix or forkhead (FOX) class of transcription factors. Another pathway regulated by PI3K-AKT/PKB activation is mTORC1 signaling pathway which regulates cell growth and metabolism and integrates signals from insulin. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 thereby activating mTORC1 pathway. The Ras/RAF/MAP2K/MAPK pathway is mainly involved in mediating cell growth, survival and cellular differentiation of insulin. Phosphorylated IRS1 recruits GRB2/SOS complex, which triggers the activation of the Ras/RAF/MAP2K/MAPK pathway. In addition to binding insulin, the insulin receptor can bind insulin-like growth factors (IGFI and IGFII). Isoform Short has a higher affinity for IGFII binding. When present in a hybrid receptor with IGF1R, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin.',NULL,NULL,NULL,NULL,NULL),(15106,'UniProt Function',NULL,18062,NULL,'Component of the protein machinery at the inhibitory synapses, probably acting as a scaffold. Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. This synaptic inhibition is fundamental for the functioning of the central nervous system, shaping and orchestrating the flow of information through neuronal networks to generate a precise neural code.',NULL,NULL,NULL,NULL,NULL),(15107,'UniProt Function',NULL,18064,NULL,'Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3\'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267). May have a tumor suppressor role; an ectopic expression suppressing tumor cell growth (PubMed:15254679, PubMed:16239144).',NULL,NULL,NULL,NULL,NULL),(15108,'UniProt Function',NULL,18065,NULL,'Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:9677400, PubMed:26416729). Channel characteristics depend on the subunit composition; heteropentameric channels display faster channel closure (By similarity). Plays an important role in the down-regulation of neuronal excitability (By similarity). Contributes to the generation of inhibitory postsynaptic currents (By similarity). Contributes to increased pain perception in response to increased prostaglandin E2 levels (By similarity). Plays a role in cellular responses to ethanol (By similarity).',NULL,NULL,NULL,NULL,NULL),(15109,'UniProt Function',NULL,18066,NULL,'Glycine receptors are ligand-gated chloride channels. GLRB does not form ligand-gated ion channels by itself, but is part of heteromeric ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:8717357, PubMed:15302677, PubMed:16144831, PubMed:22715885, PubMed:25445488, PubMed:11929858, PubMed:23238346). Heteropentameric channels composed of GLRB and GLRA1 are activated by lower glycine levels than homopentameric GLRA1 (PubMed:8717357). Plays an important role in the down-regulation of neuronal excitability (PubMed:11929858, PubMed:23238346). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488).',NULL,NULL,NULL,NULL,NULL),(15110,'UniProt Function',NULL,18067,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward Muc5Ac and EA2 peptide substrates.',NULL,NULL,NULL,NULL,NULL),(15111,'UniProt Function',NULL,18068,NULL,'Polypeptide N-acetylgalactosaminyltransferase that catalyzes the initiation of protein O-linked glycosylation and is involved in left/right asymmetry by mediating O-glycosylation of NOTCH1. O-glycosylation of NOTCH1 promotes activation of NOTCH1, modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). Polypeptide N-acetylgalactosaminyltransferases catalyze the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays the same enzyme activity toward MUC1, MUC4, and EA2 than GALNT1. Not involved in glycosylation of erythropoietin (EPO).',NULL,NULL,NULL,NULL,NULL),(15112,'UniProt Function',NULL,18069,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a much stronger activity than GALNT1 to transfer GalNAc to mucin peptides, such as Muc5Ac and Muc7. Able to glycosylate SDC3. May be responsible for the synthesis of Tn antigen in neuronal cells.',NULL,NULL,NULL,NULL,NULL),(15113,'UniProt Function',NULL,18070,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Although it displays a much weaker activity toward all substrates tested compared to GALNT2, it is able to transfer up to seven GalNAc residues to the Muc5AC peptide, suggesting that it can fill vicinal Thr/Ser residues in cooperation with other GALNT proteins. Prefers Muc1a as substrate.',NULL,NULL,NULL,NULL,NULL),(15114,'UniProt Function',NULL,18071,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.',NULL,NULL,NULL,NULL,NULL),(15115,'UniProt Function',NULL,18072,NULL,'Mitochondrial acyltransferase which transfers an acyl group to the N-terminus of glycine and glutamine, although much less efficiently. Can conjugate numerous substrates to form a variety of N-acylglycines, with a preference for benzoyl-CoA over phenylacetyl-CoA as acyl donors. Thereby detoxify xenobiotics, such as benzoic acid or salicylic acid, and endogenous organic acids, such as isovaleric acid.',NULL,NULL,NULL,NULL,NULL),(15116,'UniProt Function',NULL,18073,NULL,'Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS.',NULL,NULL,NULL,NULL,NULL),(15117,'UniProt Function',NULL,18074,NULL,'Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS.',NULL,NULL,NULL,NULL,NULL),(15118,'UniProt Function',NULL,18075,NULL,'Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates nuclear import of STAT1 homodimers and STAT1/STAT2 heterodimers by recognizing non-classical NLSs of STAT1 and STAT2 through ARM repeats 8-9. Recognizes influenza A virus nucleoprotein through ARM repeat 7-9 In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS.',NULL,NULL,NULL,NULL,NULL),(15119,'UniProt Function',NULL,18076,NULL,'Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus.',NULL,NULL,NULL,NULL,NULL),(15120,'UniProt Function',NULL,18077,NULL,'Catalyzes the cleavage of serine to glycine accompanied with the production of 5,10-methylenetetrahydrofolate, an essential intermediate for purine biosynthesis (PubMed:24075985, PubMed:29364879, PubMed:25619277). Serine provides the major source of folate one-carbon in cells by catalyzing the transfer of one carbon from serine to tetrahydrofolate (PubMed:25619277). Contributes to the de novo mitochondrial thymidylate biosynthesis pathway via its role in glycine and tetrahydrofolate metabolism: thymidylate biosynthesis is required to prevent uracil accumulation in mtDNA (PubMed:21876188). Also required for mitochondrial translation by producing 5,10-methylenetetrahydrofolate; 5,10-methylenetetrahydrofolate providing methyl donors to produce the taurinomethyluridine base at the wobble position of some mitochondrial tRNAs (PubMed:29452640, PubMed:29364879). Associates with mitochondrial DNA (PubMed:18063578). In addition to its role in mitochondria, also plays a role in the deubiquitination of target proteins as component of the BRISC complex: required for IFNAR1 deubiquitination by the BRISC complex (PubMed:24075985).',NULL,NULL,NULL,NULL,NULL),(15121,'UniProt Function',NULL,18078,NULL,'Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.',NULL,NULL,NULL,NULL,NULL),(15122,'UniProt Function',NULL,18079,NULL,'Catalyzes the conversion of GDP-D-mannose to GDP-4-dehydro-6-deoxy-D-mannose.',NULL,NULL,NULL,NULL,NULL),(15123,'UniProt Function',NULL,18080,NULL,'Catalyzes the conversion of inosine 5\'-phosphate (IMP) to xanthosine 5\'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.',NULL,NULL,NULL,NULL,NULL),(15124,'UniProt Function',NULL,18081,NULL,'Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides.',NULL,NULL,NULL,NULL,NULL),(15125,'UniProt Function',NULL,18082,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C.',NULL,NULL,NULL,NULL,NULL),(15126,'UniProt Function',NULL,18083,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:15240885, PubMed:16787920, PubMed:16705036, PubMed:27084452). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF1/p115RhoGEF, ARHGEF11/PDZ-RhoGEF and ARHGEF12/LARG) (PubMed:15240885, PubMed:12515866). GNA13-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway (PubMed:16787920, PubMed:16705036, PubMed:27084452). Inhibits CDH1-mediated cell adhesion in process independent from Rho activation (PubMed:11976333).',NULL,NULL,NULL,NULL,NULL),(15127,'UniProt Function',NULL,18084,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(i) proteins are involved in hormonal regulation of adenylate cyclase: they inhibit the cyclase in response to beta-adrenergic stimuli. May play a role in cell division.',NULL,NULL,NULL,NULL,NULL),(15128,'UniProt Function',NULL,18084,NULL,'Isoform sGi2: Regulates the cell surface density of dopamine receptors DRD2 by sequestrating them as an intracellular pool.',NULL,NULL,NULL,NULL,NULL),(15129,'UniProt Function',NULL,18085,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.',NULL,NULL,NULL,NULL,NULL),(15130,'UniProt Function',NULL,18087,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters.',NULL,NULL,NULL,NULL,NULL),(15131,'UniProt Function',NULL,18088,NULL,'Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. XLas isoforms interact with the same set of receptors as GNAS isoforms (By similarity).',NULL,NULL,NULL,NULL,NULL),(15132,'UniProt Function',NULL,18089,NULL,'Functions as signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina (PubMed:22190596). Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs), such as the photoreceptor RHO. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Activated RHO promotes GDP release and GTP binding. Signaling is mediated via downstream effector proteins, such as cGMP-phosphodiesterase (By similarity).',NULL,NULL,NULL,NULL,NULL),(15133,'UniProt Function',NULL,18090,NULL,'Guanine nucleotide-binding protein (G protein) alpha subunit playing a prominent role in bitter and sweet taste transduction as well as in umami (monosodium glutamate, monopotassium glutamate, and inosine monophosphate) taste transduction. Transduction by this alpha subunit involves coupling of specific cell-surface receptors with a cGMP-phosphodiesterase; Activation of phosphodiesterase lowers intracellular levels of cAMP and cGMP which may open a cyclic nucleotide-suppressible cation channel leading to influx of calcium, ultimately leading to release of neurotransmitter. Indeed, denatonium and strychnine induce transient reduction in cAMP and cGMP in taste tissue, whereas this decrease is inhibited by GNAT3 antibody. Gustducin heterotrimer transduces response to bitter and sweet compounds via regulation of phosphodiesterase for alpha subunit, as well as via activation of phospholipase C for beta and gamma subunits, with ultimate increase inositol trisphosphate and increase of intracellular Calcium. GNAT3 can functionally couple to taste receptors to transmit intracellular signal: receptor heterodimer TAS1R2/TAS1R3 senses sweetness and TAS1R1/TAS1R3 transduces umami taste, whereas the T2R family GPCRs act as bitter sensors. Functions also as lumenal sugar sensors in the gut to control the expression of the Na+-glucose transporter SGLT1 in response to dietaty sugar, as well as the secretion of Glucagon-like peptide-1, GLP-1 and glucose-dependent insulinotropic polypeptide, GIP. Thus, may modulate the gut capacity to absorb sugars, with implications in malabsorption syndromes and diet-related disorders including diabetes and obesity.',NULL,NULL,NULL,NULL,NULL),(15134,'UniProt Function',NULL,18091,NULL,'Possible regulatory or functional link with the histocompatibility cluster.',NULL,NULL,NULL,NULL,NULL),(15135,'UniProt Function',NULL,18092,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.',NULL,NULL,NULL,NULL,NULL),(15136,'UniProt Function',NULL,18094,NULL,'Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors (PubMed:27677260). May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity).',NULL,NULL,NULL,NULL,NULL),(15137,'UniProt Function',NULL,18095,NULL,'Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing.',NULL,NULL,NULL,NULL,NULL),(15138,'UniProt Function',NULL,18096,NULL,'Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophils chemotactic factors. Binding of FMLP to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(15139,'UniProt Function',NULL,18097,NULL,'Organizes filamentous actin into bundles with a minimum of 4.1:1 actin/fascin ratio. Plays a role in the organization of actin filament bundles and the formation of microspikes, membrane ruffles, and stress fibers. Important for the formation of a diverse set of cell protrusions, such as filopodia, and for cell motility and migration.',NULL,NULL,NULL,NULL,NULL),(15140,'UniProt Function',NULL,18099,NULL,'Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate.',NULL,NULL,NULL,NULL,NULL),(15141,'UniProt Function',NULL,18100,NULL,'Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool.',NULL,NULL,NULL,NULL,NULL),(15142,'UniProt Function',NULL,18100,NULL,'Binds and promotes bundling of vimentin filaments originating from the Golgi.',NULL,NULL,NULL,NULL,NULL),(15143,'UniProt Function',NULL,18101,NULL,'Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.',NULL,NULL,NULL,NULL,NULL),(15144,'UniProt Function',NULL,18104,NULL,'Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK.',NULL,NULL,NULL,NULL,NULL),(15145,'UniProt Function',NULL,18105,NULL,'Has alpha-glucosidase activity.',NULL,NULL,NULL,NULL,NULL),(15146,'UniProt Function',NULL,18106,NULL,'Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5\'-AGATAG-3\'.',NULL,NULL,NULL,NULL,NULL),(15147,'UniProt Function',NULL,18107,NULL,'May play a role in promoting maturation and morphological differentiation of cerebellar neurons.',NULL,NULL,NULL,NULL,NULL),(15148,'UniProt Function',NULL,18108,NULL,'Isoform 1: Hypothalamic neuropeptide which binds to the G-protein-coupled galanin receptors (GALR1, GALR2 and GALR3). Involved in a large number of putative physiological functions in CNS homeostatic processes, including the regulation of gonadotropin-releasing hormone secretion.',NULL,NULL,NULL,NULL,NULL),(15149,'UniProt Function',NULL,18108,NULL,'Isoform 2: Exhibits potent and dose-dependent vasoconstrictor and anti-edema activity in the cutaneous microvasculature, a physiologic effects which does not appear to be mediated via GALR1 or GALR2. Exhibits antimicrobial activity against Gram-negative bacterias, inducing bacterial membrane blebbing (PubMed:23537644).',NULL,NULL,NULL,NULL,NULL),(15150,'UniProt Function',NULL,18109,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(15151,'UniProt Function',NULL,18110,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(15152,'UniProt Function',NULL,18111,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction (By similarity).',NULL,NULL,NULL,NULL,NULL),(15153,'UniProt Function',NULL,18112,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(15154,'UniProt Function',NULL,18113,NULL,'Exhibits antiviral activity against influenza virus.',NULL,NULL,NULL,NULL,NULL),(15155,'UniProt Function',NULL,18114,NULL,'Binds GTP, GDP and GMP.',NULL,NULL,NULL,NULL,NULL),(15156,'UniProt Function',NULL,18115,NULL,'Hydrolyzes GTP to GMP in two consecutive cleavage reactions. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes (By similarity).',NULL,NULL,NULL,NULL,NULL),(15157,'UniProt Function',NULL,18116,NULL,'Regulator that plays a central role in regulation of apoptosis and transcription via its interaction with NF-kappa-B and p53/TP53 proteins. Blocks transcription of HIV-1 virus by inhibiting the action of both NF-kappa-B and SP1. Also inhibits p53/TP53 function, possibly by preventing the association between p53/TP53 and ASPP1 or ASPP2, and therefore suppressing the subsequent activation of apoptosis.',NULL,NULL,NULL,NULL,NULL),(15158,'UniProt Function',NULL,18118,NULL,'IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Promotes cell migration.',NULL,NULL,NULL,NULL,NULL),(15159,'UniProt Function',NULL,18119,NULL,'Inhibits IGF-mediated growth and developmental rates. IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors.',NULL,NULL,NULL,NULL,NULL),(15160,'UniProt Function',NULL,18120,NULL,'IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Also exhibits IGF-independent antiproliferative and apoptotic effects mediated by its receptor TMEM219/IGFBP-3R.',NULL,NULL,NULL,NULL,NULL),(15161,'UniProt Function',NULL,18121,NULL,'IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors.',NULL,NULL,NULL,NULL,NULL),(15162,'UniProt Function',NULL,18122,NULL,'IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors.',NULL,NULL,NULL,NULL,NULL),(15163,'UniProt Function',NULL,18123,NULL,'IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors.',NULL,NULL,NULL,NULL,NULL),(15164,'UniProt Function',NULL,18124,NULL,'Binds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production. Stimulates cell adhesion.',NULL,NULL,NULL,NULL,NULL),(15165,'UniProt Function',NULL,18125,NULL,'IGF-binding proteins prolong the half-life of IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs in cell culture. They alter the interaction of IGFs with their cell surface receptors (By similarity). May be a putative tumor suppressor protein.',NULL,NULL,NULL,NULL,NULL),(15166,'UniProt Function',NULL,18126,NULL,'Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development. Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and NF-kappa-B-driven transcription.',NULL,NULL,NULL,NULL,NULL),(15167,'UniProt Function',NULL,18127,NULL,'Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein.',NULL,NULL,NULL,NULL,NULL),(15168,'UniProt Function',NULL,18129,NULL,'May play a role in neurotransmitter secretion.',NULL,NULL,NULL,NULL,NULL),(15169,'UniProt Function',NULL,18130,NULL,'Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue.',NULL,NULL,NULL,NULL,NULL),(15170,'UniProt Function',NULL,18131,NULL,'ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). During leukocyte trans-endothelial migration, ICAM1 engagement promotes the assembly of endothelial apical cups through ARHGEF26/SGEF and RHOG activation.',NULL,NULL,NULL,NULL,NULL),(15171,'UniProt Function',NULL,18131,NULL,'(Microbial infection) Acts as a receptor for major receptor group rhinovirus A-B capsid proteins.',NULL,NULL,NULL,NULL,NULL),(15172,'UniProt Function',NULL,18131,NULL,'(Microbial infection) Acts as a receptor for Coxsackievirus A21 capsid proteins.',NULL,NULL,NULL,NULL,NULL),(15173,'UniProt Function',NULL,18131,NULL,'(Microbial infection) Upon Kaposi\'s sarcoma-associated herpesvirus/HHV-8 infection, is degraded by viral E3 ubiquitin ligase MIR2, presumably to prevent lysis of infected cells by cytotoxic T-lymphocytes and NK cell.',NULL,NULL,NULL,NULL,NULL),(15174,'UniProt Function',NULL,18132,NULL,'ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM2 may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance.',NULL,NULL,NULL,NULL,NULL),(15175,'UniProt Function',NULL,18133,NULL,'ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2) (PubMed:1448173). ICAM3 is also a ligand for integrin alpha-D/beta-2. In association with integrin alpha-L/beta-2, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590).',NULL,NULL,NULL,NULL,NULL),(15176,'UniProt Function',NULL,18134,NULL,'ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM4 is also a ligand for alpha-4/beta-1 and alpha-V integrins.',NULL,NULL,NULL,NULL,NULL),(15177,'UniProt Function',NULL,18135,NULL,'ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2).',NULL,NULL,NULL,NULL,NULL),(15178,'UniProt Function',NULL,18136,NULL,'Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:9872316, PubMed:9872744, PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054). Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins (PubMed:18165688). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase (PubMed:10075644, PubMed:10773016, PubMed:24305054). Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis (PubMed:10075644, PubMed:9872744, PubMed:10906333, PubMed:10773016). Plays a critical role in the fine-tuning of inhibitory synaptic transmission (PubMed:9872744, PubMed:22660477). Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials (PubMed:9872316, PubMed:10075644, PubMed:9872744, PubMed:22660477). Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception (Probable).',NULL,NULL,NULL,NULL,NULL),(15179,'UniProt Function',NULL,18137,NULL,'The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(15180,'UniProt Function',NULL,18138,NULL,'Acts on GalNAc. Also acts as a galactokinase when galactose is present at high concentrations. May be involved in a salvage pathway for the reutilization of free GalNAc derived from the degradation of complex carbohydrates.',NULL,NULL,NULL,NULL,NULL),(15181,'UniProt Function',NULL,18139,NULL,'The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution.',NULL,NULL,NULL,NULL,NULL),(15182,'UniProt Function',NULL,18140,NULL,'Catalyzes the ligation of glycine to the 3\'-end of its cognate tRNA. Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs.',NULL,NULL,NULL,NULL,NULL),(15183,'UniProt Function',NULL,18141,NULL,'Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.',NULL,NULL,NULL,NULL,NULL),(15184,'UniProt Function',NULL,18143,NULL,'Shared alpha chain of the active heterodimeric glycoprotein hormones thyrotropin/thyroid stimulating hormone/TSH, lutropin/luteinizing hormone/LH, follitropin/follicle stimulating hormone/FSH and choriogonadotropin/CG. These hormones bind specific receptors on target cells that in turn activate downstream signaling pathways.',NULL,NULL,NULL,NULL,NULL),(15185,'UniProt Function',NULL,18144,NULL,'G-protein coupled receptor for glucagon-like peptide 1 (GLP-1) (PubMed:8405712, PubMed:8216285, PubMed:7517895, PubMed:19861722, PubMed:26308095, PubMed:27196125, PubMed:28514449). Ligand binding triggers activation of a signaling cascade that leads to the activation of adenylyl cyclase and increased intracellular cAMP levels (PubMed:8405712, PubMed:8216285, PubMed:7517895, PubMed:19861722, PubMed:26308095, PubMed:27196125, PubMed:28514449). Plays a role in regulating insulin secretion in response to GLP-1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(15186,'UniProt Function',NULL,18145,NULL,'This is a receptor for glucagon-like peptide 2. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.',NULL,NULL,NULL,NULL,NULL),(15187,'UniProt Function',NULL,18146,NULL,'This protein is a minor sialoglycoprotein in erythrocyte membranes.',NULL,NULL,NULL,NULL,NULL),(15188,'UniProt Function',NULL,18147,NULL,'This protein is a minor sialoglycoprotein in human erythrocyte membranes. The blood group Gerbich antigens and receptors for Plasmodium falciparum merozoites are most likely located within the extracellular domain. Glycophorin-C plays an important role in regulating the stability of red cells.',NULL,NULL,NULL,NULL,NULL),(15189,'UniProt Function',NULL,18148,NULL,'Key enzyme in the regulation of glycerol uptake and metabolism.',NULL,NULL,NULL,NULL,NULL),(15190,'UniProt Function',NULL,18149,NULL,'Key enzyme in the regulation of glycerol uptake and metabolism.',NULL,NULL,NULL,NULL,NULL),(15191,'UniProt Function',NULL,18150,NULL,'Phosphatidylinositol-4-phosphate-binding protein that may antagonize the action of GOLPH3 which is required for the process of vesicle budding at the Golgi and anterograde transport to the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(15192,'UniProt Function',NULL,18151,NULL,'Glycophorin A is the major intrinsic membrane protein of the erythrocyte. The N-terminal glycosylated segment, which lies outside the erythrocyte membrane, has MN blood group receptors. Appears to be important for the function of SLC4A1 and is required for high activity of SLC4A1. May be involved in translocation of SLC4A1 to the plasma membrane. Is a receptor for influenza virus. Is a receptor for Plasmodium falciparum erythrocyte-binding antigen 175 (EBA-175); binding of EBA-175 is dependent on sialic acid residues of the O-linked glycans. Appears to be a receptor for Hepatitis A virus (HAV).',NULL,NULL,NULL,NULL,NULL),(15193,'UniProt Function',NULL,18152,NULL,'This protein is a minor sialoglycoprotein in human erythrocyte membranes.',NULL,NULL,NULL,NULL,NULL),(15194,'UniProt Function',NULL,18154,NULL,'Has a glutathione-disulfide oxidoreductase activity in the presence of NADPH and glutathione reductase. Reduces low molecular weight disulfides and proteins.',NULL,NULL,NULL,NULL,NULL),(15195,'UniProt Function',NULL,18155,NULL,'Glutathione-dependent oxidoreductase that facilitates the maintenance of mitochondrial redox homeostasis upon induction of apoptosis by oxidative stress. Involved in response to hydrogen peroxide and regulation of apoptosis caused by oxidative stress. Acts as a very efficient catalyst of monothiol reactions because of its high affinity for protein glutathione-mixed disulfides. Can receive electrons not only from glutathione (GSH), but also from thioredoxin reductase supporting both monothiol and dithiol reactions. Efficiently catalyzes both glutathionylation and deglutathionylation of mitochondrial complex I, which in turn regulates the superoxide production by the complex. Overexpression decreases the susceptibility to apoptosis and prevents loss of cardiolipin and cytochrome c release.',NULL,NULL,NULL,NULL,NULL),(15196,'UniProt Function',NULL,18156,NULL,'Together with BOLA2, acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins (PubMed:26613676, PubMed:27519415). Acts as a critical negative regulator of cardiac hypertrophy and a positive inotropic regulator (By similarity). Required for hemoglobin maturation (PubMed:23615448). Does not possess any thyoredoxin activity since it lacks the conserved motif that is essential for catalytic activity.',NULL,NULL,NULL,NULL,NULL),(15197,'UniProt Function',NULL,18157,NULL,'Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate in the brain. Isoform 2 lacks catalytic activity.',NULL,NULL,NULL,NULL,NULL),(15198,'UniProt Function',NULL,18158,NULL,'Plays an important role in the regulation of glutamine catabolism. Promotes mitochondrial respiration and increases ATP generation in cells by catalyzing the synthesis of glutamate and alpha-ketoglutarate. Increases cellular anti-oxidant function via NADH and glutathione production. May play a role in preventing tumor proliferation.',NULL,NULL,NULL,NULL,NULL),(15199,'UniProt Function',NULL,18159,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney.',NULL,NULL,NULL,NULL,NULL),(15200,'UniProt Function',NULL,18161,NULL,'Probable scaffold protein that may be involved in mRNA transport.',NULL,NULL,NULL,NULL,NULL),(15201,'UniProt Function',NULL,18162,NULL,'May mediate microtubule plus end-directed vesicle transport.',NULL,NULL,NULL,NULL,NULL),(15202,'UniProt Function',NULL,18163,NULL,'Transfers a sulfate group to the hydroxyl group at C3 of non-reducing beta-galactosyl residues. Acts both on type 1 (Gal-beta-1,3-GlcNAc) and type 2 (Gal-beta-1,4-GlcNAc) chains with similar efficiency.',NULL,NULL,NULL,NULL,NULL),(15203,'UniProt Function',NULL,18164,NULL,'Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6-phosphatase. May not play a role in homeostatic regulation of blood glucose levels.',NULL,NULL,NULL,NULL,NULL),(15204,'UniProt Function',NULL,18165,NULL,'Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:9872316, PubMed:9872744, PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054). Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins (PubMed:18165688). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase (PubMed:10906333, PubMed:10773016, PubMed:10075644, PubMed:9872744, PubMed:24305054). Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis (PubMed:10075644). Calcium is required for high affinity binding to GABA (By similarity). Plays a critical role in the fine-tuning of inhibitory synaptic transmission (PubMed:9844003). Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials (PubMed:9844003, PubMed:9872316, PubMed:10075644, PubMed:9872744, PubMed:22660477). Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception (Probable). Activated by (-)-baclofen, cgp27492 and blocked by phaclofen (PubMed:9844003, PubMed:9872316, PubMed:24305054).',NULL,NULL,NULL,NULL,NULL),(15205,'UniProt Function',NULL,18165,NULL,'Isoform 1E may regulate the formation of functional GABBR1/GABBR2 heterodimers by competing for GABBR2 binding. This could explain the observation that certain small molecule ligands exhibit differential affinity for central versus peripheral sites.',NULL,NULL,NULL,NULL,NULL),(15206,'UniProt Function',NULL,18166,NULL,'Plays an important role in galactose metabolism.',NULL,NULL,NULL,NULL,NULL),(15207,'UniProt Function',NULL,18168,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward EA2 peptide substrate, but has a weak activity toward Muc2 or Muc1b substrates (By similarity).',NULL,NULL,NULL,NULL,NULL),(15208,'UniProt Function',NULL,18169,NULL,'Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. May participate in synthesis of oncofetal fibronectin. Has activity toward Muc1a, Muc2, EA2 and fibronectin peptides.',NULL,NULL,NULL,NULL,NULL),(15209,'UniProt Function',NULL,18170,NULL,'Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine (\"psi\") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.',NULL,NULL,NULL,NULL,NULL),(15210,'UniProt Function',NULL,18172,NULL,'Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).',NULL,NULL,NULL,NULL,NULL),(15211,'UniProt Function',NULL,18173,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Interacts with beta-1 and beta-2, but not with beta-3.',NULL,NULL,NULL,NULL,NULL),(15212,'UniProt Function',NULL,18174,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(15213,'UniProt Function',NULL,18175,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(15214,'UniProt Function',NULL,18176,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(15215,'UniProt Function',NULL,18177,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(15216,'UniProt Function',NULL,18178,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.',NULL,NULL,NULL,NULL,NULL),(15217,'UniProt Function',NULL,18179,NULL,'Hydrolyzes GTP to GMP in 2 consecutive cleavage reactions. Exhibits antiviral activity against influenza virus. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes.',NULL,NULL,NULL,NULL,NULL),(15218,'UniProt Function',NULL,18180,NULL,'Hydrolyzes GTP to GMP in 2 consecutive cleavage reactions, but the major reaction product is GDP (PubMed:8706832). Exhibits antiviral activity against influenza virus. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes (By similarity).',NULL,NULL,NULL,NULL,NULL),(15219,'UniProt Function',NULL,18181,NULL,'Binds GTP, GDP and GMP. Hydrolyzes GTP very efficiently; GDP rather than GMP is the major reaction product. Plays a role in erythroid differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(15220,'UniProt Function',NULL,18182,NULL,'As an activator of NLRP3 inflammasome assembly, plays a role in innate immunity and inflammation. Promotes selective NLRP3 inflammasome assembly in response to microbial and soluble, but not crystalline, agents (PubMed:22461501). Hydrolyzes GTP, but in contrast to other family members, does not produce GMP (PubMed:20180847).',NULL,NULL,NULL,NULL,NULL),(15221,'UniProt Function',NULL,18183,NULL,'Selectively inhibits insulin-stimulated glucose utilization and glycogen deposition in muscle, while not affecting adipocyte glucose metabolism.',NULL,NULL,NULL,NULL,NULL),(15222,'UniProt Function',NULL,18186,NULL,'Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931). In 4EHP-GYF2 the complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (By similarity). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153).',NULL,NULL,NULL,NULL,NULL),(15223,'UniProt Function',NULL,18187,NULL,'Catalytic subunit of the enzyme which catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers.',NULL,NULL,NULL,NULL,NULL),(15224,'UniProt Function',NULL,18188,NULL,'Plays a structural role to facilitate the assembly and ensure the full activity of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers.',NULL,NULL,NULL,NULL,NULL),(15225,'UniProt Function',NULL,18189,NULL,'Regulatory subunit which plays a role in the allosteric regulation of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers.',NULL,NULL,NULL,NULL,NULL),(15226,'UniProt Function',NULL,18191,NULL,'Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.',NULL,NULL,NULL,NULL,NULL),(15227,'UniProt Function',NULL,18192,NULL,'Ghrelin is the ligand for growth hormone secretagogue receptor type 1 (GHSR). Induces the release of growth hormone from the pituitary. Has an appetite-stimulating effect, induces adiposity and stimulates gastric acid secretion. Involved in growth regulation.',NULL,NULL,NULL,NULL,NULL),(15228,'UniProt Function',NULL,18192,NULL,'Obestatin may be the ligand for GPR39. May have an appetite-reducing effect resulting in decreased food intake. May reduce gastric emptying activity and jejunal motility (By similarity).',NULL,NULL,NULL,NULL,NULL),(15229,'UniProt Function',NULL,18195,NULL,'Stress-activated kinase involved in tolerance to glucose starvation. Induces cell-cell detachment by increasing F-actin conversion to G-actin. Expression is induced by CD95 or TNF-alpha, via NF-kappa-B. Protects cells from CD95-mediated apoptosis and is required for the increased motility and invasiveness of CD95-activated tumor cells. Able to phosphorylate \'Ser-464\' of LATS1.',NULL,NULL,NULL,NULL,NULL),(15230,'UniProt Function',NULL,18196,NULL,'Binds RNA.',NULL,NULL,NULL,NULL,NULL),(15231,'UniProt Function',NULL,18197,NULL,'Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division (PubMed:7769006, PubMed:17172455, PubMed:19255246, PubMed:24996901, PubMed:26195665, PubMed:27462074). Functions to tether the minus ends of MTs at the spindle poles, which is critical for the establishment and maintenance of the spindle poles (PubMed:12445386, PubMed:11956313). Plays a role in the establishment of the mitotic spindle orientation during metaphase and elongation during anaphase in a dynein-dynactin-dependent manner (PubMed:23870127, PubMed:24109598, PubMed:24996901, PubMed:26765568). In metaphase, part of a ternary complex composed of GPSM2 and G(i) alpha proteins, that regulates the recruitment and anchorage of the dynein-dynactin complex in the mitotic cell cortex regions situated above the two spindle poles, and hence regulates the correct oritentation of the mitotic spindle (PubMed:23027904, PubMed:22327364, PubMed:23921553). During anaphase, mediates the recruitment and accumulation of the dynein-dynactin complex at the cell membrane of the polar cortical region through direct association with phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), and hence participates in the regulation of the spindle elongation and chromosome segregation (PubMed:22327364, PubMed:23921553, PubMed:24996901, PubMed:24371089). Binds also to other polyanionic phosphoinositides, such as phosphatidylinositol 3-phosphate (PIP), lysophosphatidic acid (LPA) and phosphatidylinositol triphosphate (PIP3), in vitro (PubMed:24996901, PubMed:24371089). Also required for proper orientation of the mitotic spindle during asymmetric cell divisions (PubMed:21816348). Plays a role in mitotic MT aster assembly (PubMed:11163243, PubMed:11229403, PubMed:12445386). Involved in anastral spindle assembly (PubMed:25657325). Positively regulates TNKS protein localization to spindle poles in mitosis (PubMed:16076287). Highly abundant component of the nuclear matrix where it may serve a non-mitotic structural role, occupies the majority of the nuclear volume (PubMed:10075938). Required for epidermal differentiation and hair follicle morphogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(15232,'UniProt Function',NULL,18198,NULL,'Receptor for ATP that acts as a ligand-gated ion channel.',NULL,NULL,NULL,NULL,NULL),(15233,'UniProt Function',NULL,18199,NULL,'Receptor for ATP that acts as a ligand-gated ion channel.',NULL,NULL,NULL,NULL,NULL),(15234,'UniProt Function',NULL,18200,NULL,'May act as a tumor suppressor. Inhibits tumor cell growth, when overexpressed.',NULL,NULL,NULL,NULL,NULL),(15235,'UniProt Function',NULL,18201,NULL,'Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic subunit. Plays an important role during the development of brain.',NULL,NULL,NULL,NULL,NULL),(15236,'UniProt Function',NULL,18202,NULL,'Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position.',NULL,NULL,NULL,NULL,NULL),(15237,'UniProt Function',NULL,18203,NULL,'PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides, this releases glycerophospholipids and arachidonic acid that serve as the precursors of signal molecules.',NULL,NULL,NULL,NULL,NULL),(15238,'UniProt Function',NULL,18204,NULL,'May play a role in a ERBB3-regulated signal transduction pathway. Seems be involved in growth regulation. Acts a corepressor of the androgen receptor (AR) and is regulated by the ERBB3 ligand neuregulin-1/heregulin (HRG). Inhibits transcription of some E2F1-regulated promoters, probably by recruiting histone acetylase (HAT) activity. Binds RNA. Associates with 28S, 18S and 5.8S mature rRNAs, several rRNA precursors and probably U3 small nucleolar RNA. May be involved in regulation of intermediate and late steps of rRNA processing. May be involved in ribosome assembly. Mediates cap-independent translation of specific viral IRESs (internal ribosomal entry site) (By similarity). Regulates cell proliferation, differentiation, and survival. Isoform 1 suppresses apoptosis whereas isoform 2 promotes cell differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(15239,'UniProt Function',NULL,18205,NULL,'Binds to activated (phosphorylated) protein-tyrosine kinases through its SH2 domain and regulates their kinase activity. During insulin stimulation, it also binds to IRS-1.',NULL,NULL,NULL,NULL,NULL),(15240,'UniProt Function',NULL,18206,NULL,'PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Has a powerful potency for releasing arachidonic acid from cell membrane phospholipids. Prefers phosphatidylethanolamine and phosphatidylcholine liposomes to those of phosphatidylserine.',NULL,NULL,NULL,NULL,NULL),(15241,'UniProt Function',NULL,18207,NULL,'Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Binds poly(A) with a slightly lower affinity as compared to PABPC1.',NULL,NULL,NULL,NULL,NULL),(15242,'UniProt Function',NULL,18208,NULL,'Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo (By similarity).',NULL,NULL,NULL,NULL,NULL),(15243,'UniProt Function',NULL,18209,NULL,'Pancreatic hormone is synthesized in pancreatic islets of Langerhans and acts as a regulator of pancreatic and gastrointestinal functions.',NULL,NULL,NULL,NULL,NULL),(15244,'UniProt Function',NULL,18209,NULL,'The physiological role for the icosapeptide has not yet been elucidated.',NULL,NULL,NULL,NULL,NULL),(15245,'UniProt Function',NULL,18210,NULL,'Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA.',NULL,NULL,NULL,NULL,NULL),(15246,'UniProt Function',NULL,18211,NULL,'Inhibits translation of capped and polyadenylated mRNAs by displacing PABPC1 from the poly(A) tail.',NULL,NULL,NULL,NULL,NULL),(15247,'UniProt Function',NULL,18212,NULL,'Acts as a coactivator in the regulation of translation initiation of poly(A)-containing mRNAs. Its stimulatory activity on translation is mediated via its action on PABPC1. Competes with PAIP2 for binding to PABPC1. Its association with EIF4A and PABPC1 may potentiate contacts between mRNA termini. May also be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain.',NULL,NULL,NULL,NULL,NULL),(15248,'UniProt Function',NULL,18213,NULL,'Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, growth, proliferation or cell survival. Activation by various effectors including growth factor receptors or active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates and inactivates the protein phosphatase SSH1, leading to increased inhibitory phosphorylation of the actin binding/depolymerizing factor cofilin. Decreased cofilin activity may lead to stabilization of actin filaments. Phosphorylates LIMK1, a kinase that also inhibits the activity of cofilin. Phosphorylates integrin beta5/ITGB5 and thus regulates cell motility. Phosphorylates ARHGEF2 and activates the downstream target RHOA that plays a role in the regulation of assembly of focal adhesions and actin stress fibers. Stimulates cell survival by phosphorylating the BCL2 antagonist of cell death BAD. Alternatively, inhibits apoptosis by preventing caspase-8 binding to death domain receptors in a kinase independent manner. Plays a role in cell-cycle progression by controlling levels of the cell-cycle regulatory protein CDKN1A and by phosphorylating RAN.',NULL,NULL,NULL,NULL,NULL),(15249,'UniProt Function',NULL,18214,NULL,'Serine/threonine protein kinase that plays a role in the regulation of gene transcription. The kinase activity is induced by various effectors including AR or MAP2K6/MAPKK6. Phosphorylates the DNA-binding domain of androgen receptor/AR and thereby inhibits AR-mediated transcription. Inhibits also ESR1-mediated transcription. May play a role in cytoskeleton regulation by interacting with IQGAP1. May protect cells from apoptosis through phosphorylation of BAD.',NULL,NULL,NULL,NULL,NULL),(15250,'UniProt Function',NULL,18215,NULL,'PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity).',NULL,NULL,NULL,NULL,NULL),(15251,'UniProt Function',NULL,18216,NULL,'PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity).',NULL,NULL,NULL,NULL,NULL),(15252,'UniProt Function',NULL,18219,NULL,'Structural component of the gap junctions and the hemichannels.',NULL,NULL,NULL,NULL,NULL),(15253,'UniProt Function',NULL,18220,NULL,'Flavoenzyme which catalyzes the oxidation of N(1)-acetylspermine to spermidine and is thus involved in the polyamine back-conversion. Can also oxidize N(1)-acetylspermidine to putrescine. Substrate specificity: N(1)-acetylspermine = N(1)-acetylspermidine > N(1),N(12)-diacylspermine >> spermine. Does not oxidize spermidine. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs.',NULL,NULL,NULL,NULL,NULL),(15254,'UniProt Function',NULL,18222,NULL,'Plays a role in the physiological regulation of the intracellular CoA concentration.',NULL,NULL,NULL,NULL,NULL),(15255,'UniProt Function',NULL,18223,NULL,'Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432, PubMed:23161870). Seems to act through a G(s) mediated pathway (PubMed:23161870). May be involved in regulating rapid P4 signaling in the nervous system (PubMed:23763432). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870).',NULL,NULL,NULL,NULL,NULL),(15256,'UniProt Function',NULL,18225,NULL,'Plays a role in nuclear envelope stability and nuclear remodeling during spermiogenesis (By similarity). In vitro, exhibits mono(ADP-ribosyl) transferase activity (PubMed:25673562).',NULL,NULL,NULL,NULL,NULL),(15257,'UniProt Function',NULL,18226,NULL,'Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity.',NULL,NULL,NULL,NULL,NULL),(15258,'UniProt Function',NULL,18227,NULL,'Probably plays a role in the regulation of cell adhesion and cytoskeleton organization.',NULL,NULL,NULL,NULL,NULL),(15259,'UniProt Function',NULL,18228,NULL,'Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.',NULL,NULL,NULL,NULL,NULL),(15260,'UniProt Function',NULL,18229,NULL,'Serine/threonine-protein kinase involved in energy homeostasis and protein translation. Phosphorylates EEF1A1, GYS1, PDX1 and RPS6. Probably plays a role under changing environmental conditions (oxygen, glucose, nutrition), rather than under standard conditions. Acts as a sensor involved in energy homeostasis: regulates glycogen synthase synthesis by mediating phosphorylation of GYS1, leading to GYS1 inactivation. May be involved in glucose-stimulated insulin production in pancreas and regulation of glucagon secretion by glucose in alpha cells; however such data require additional evidences. May play a role in regulation of protein translation by phosphorylating EEF1A1, leading to increase translation efficiency. May also participate to respiratory regulation.',NULL,NULL,NULL,NULL,NULL),(15261,'UniProt Function',NULL,18230,NULL,'Microtubule-associated protein with the capacity to bundle and stabilize microtubules (By similarity). May associate with chromosomes and promote the organization of mitotic spindle microtubules around them.',NULL,NULL,NULL,NULL,NULL),(15262,'UniProt Function',NULL,18231,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15263,'UniProt Function',NULL,18232,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15264,'UniProt Function',NULL,18233,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15265,'UniProt Function',NULL,18234,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15266,'UniProt Function',NULL,18235,NULL,'Ornithine-citrulline antiporter. Connects the cytosolic and the intramitochondrial reactions of the urea cycle by exchanging cytosolic ornithine with matrix citrulline (PubMed:12807890). The stoichiometry is close to 1:1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(15267,'UniProt Function',NULL,18236,NULL,'Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix.',NULL,NULL,NULL,NULL,NULL),(15268,'UniProt Function',NULL,18237,NULL,'Specifically phosphorylates seryl-tRNA(Sec) to O-phosphoseryl-tRNA(Sec), an activated intermediate for selenocysteine biosynthesis.',NULL,NULL,NULL,NULL,NULL),(15269,'UniProt Function',NULL,18238,NULL,'Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication.',NULL,NULL,NULL,NULL,NULL),(15270,'UniProt Function',NULL,18239,NULL,'PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Shows an 11-fold preference for phosphatidylglycerol over phosphatidylcholine (PC). Preferential cleavage: 1-palmitoyl-2-linoleoyl-phosphatidylethanolamine (PE) > 1-palmitoyl-2-linoleoyl-PC > 1-palmitoyl-2-arachidonoyl-PC > 1-palmitoyl-2-arachidonoyl-PE. Plays a role in ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(15271,'UniProt Function',NULL,18240,NULL,'Inhibits proteasome 26S assembly and proteolytic activity by impairing the association of the 19S regulatory complex with the 20S core. In case of HIV-1 infection, recruited by viral Tat to the HIV-1 promoter, where it promotes the recruitment of 19S regulatory complex through dissociation of the proteasome 26S. This presumably promotes provirus transcription efficiency. Protects SUPT6H from proteasomal degradation.',NULL,NULL,NULL,NULL,NULL),(15272,'UniProt Function',NULL,18241,NULL,'Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher affinity for NADP, but higher catalytic efficiency with NADH (PubMed:2722838, PubMed:6894153). Involved in cellular response to oxidative stress (PubMed:25865492).',NULL,NULL,NULL,NULL,NULL),(15273,'UniProt Function',NULL,18242,NULL,'May play a role in lipid mediator production in inflammatory conditions, by providing arachidonic acid to downstream cyclooxygenases and lipoxygenases (By similarity). Phospholipase A2, which catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides (PubMed:11112443). Hydrolyzes phosphatidylethanolamine more efficiently than phosphatidylcholine, with only a modest preference for arachidonic acid versus linoelic acid at the sn-2 position. Comparable activity toward 1-palmitoyl-2-oleoyl-phosphatidylserine vesicles to that toward 1-palmitoyl-2-oleoyl-phosphatidylglycerol (By similarity). Hydrolyzes phosphatidylglycerol versus phosphatidylcholine with a 15-fold preference (PubMed:11112443).',NULL,NULL,NULL,NULL,NULL),(15274,'UniProt Function',NULL,18243,NULL,'PCNA-binding protein that acts as a regulator of DNA repair during DNA replication. Following DNA damage, the interaction with PCNA is disrupted, facilitating the interaction between monoubiquitinated PCNA and the translesion DNA synthesis DNA polymerase eta (POLH) at stalled replisomes, facilitating the bypass of replication-fork-blocking lesions. Also acts as a regulator of centrosome number.',NULL,NULL,NULL,NULL,NULL),(15275,'UniProt Function',NULL,18244,NULL,'Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and \'Ser-2\'- and \'Ser-5\'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 \'Lys-4\' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of \'Lys-120\' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3\' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the RNF20/40 E3 ubiquitin-protein ligase complex. Involved in polyadenylation of mRNA precursors. Has oncogenic activity in vivo and in vitro.',NULL,NULL,NULL,NULL,NULL),(15276,'UniProt Function',NULL,18246,NULL,'Protein kinase involved in intracellular signaling pathways downstream of integrins and receptor-type kinases that plays an important role in cytoskeleton dynamics, in cell adhesion, migration, proliferation, apoptosis, mitosis, and in vesicle-mediated transport processes. Can directly phosphorylate BAD and protects cells against apoptosis. Activated by interaction with CDC42 and RAC1. Functions as GTPase effector that links the Rho-related GTPases CDC42 and RAC1 to the JNK MAP kinase pathway. Phosphorylates and activates MAP2K1, and thereby mediates activation of downstream MAP kinases. Involved in the reorganization of the actin cytoskeleton, actin stress fibers and of focal adhesion complexes. Phosphorylates the tubulin chaperone TBCB and thereby plays a role in the regulation of microtubule biogenesis and organization of the tubulin cytoskeleton. Plays a role in the regulation of insulin secretion in response to elevated glucose levels. Part of a ternary complex that contains PAK1, DVL1 and MUSK that is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ). Activity is inhibited in cells undergoing apoptosis, potentially due to binding of CDC2L1 and CDC2L2. Phosphorylates MYL9/MLC2. Phosphorylates RAF1 at \'Ser-338\' and \'Ser-339\' resulting in: activation of RAF1, stimulation of RAF1 translocation to mitochondria, phosphorylation of BAD by RAF1, and RAF1 binding to BCL2. Phosphorylates SNAI1 at \'Ser-246\' promoting its transcriptional repressor activity by increasing its accumulation in the nucleus. In podocytes, promotes NR3C2 nuclear localization. Required for atypical chemokine receptor ACKR2-induced phosphorylation of LIMK1 and cofilin (CFL1) and for the up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3, maybe through CFL1 phosphorylation and inactivation. Plays a role in RUFY3-mediated facilitating gastric cancer cells migration and invasion (PubMed:25766321).',NULL,NULL,NULL,NULL,NULL),(15277,'UniProt Function',NULL,18247,NULL,'Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell motility, cell cycle progression, apoptosis or proliferation. Acts as downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Full-length PAK2 stimulates cell survival and cell growth. Phosphorylates MAPK4 and MAPK6 and activates the downstream target MAPKAPK5, a regulator of F-actin polymerization and cell migration. Phosphorylates JUN and plays an important role in EGF-induced cell proliferation. Phosphorylates many other substrates including histone H4 to promote assembly of H3.3 and H4 into nucleosomes, BAD, ribosomal protein S6, or MBP. Additionally, associates with ARHGEF7 and GIT1 to perform kinase-independent functions such as spindle orientation control during mitosis. On the other hand, apoptotic stimuli such as DNA damage lead to caspase-mediated cleavage of PAK2, generating PAK-2p34, an active p34 fragment that translocates to the nucleus and promotes cellular apoptosis involving the JNK signaling pathway. Caspase-activated PAK2 phosphorylates MKNK1 and reduces cellular translation.',NULL,NULL,NULL,NULL,NULL),(15278,'UniProt Function',NULL,18248,NULL,'Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, or cell cycle regulation. Plays a role in dendrite spine morphogenesis as well as synapse formation and plasticity. Acts as downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates MAPK4 and MAPK6 and activates the downstream target MAPKAPK5, a regulator of F-actin polymerization and cell migration. Additionally, phosphorylates TNNI3/troponin I to modulate calcium sensitivity and relaxation kinetics of thin myofilaments. May also be involved in early neuronal development.',NULL,NULL,NULL,NULL,NULL),(15279,'UniProt Function',NULL,18249,NULL,'Acts as a repressor in the regulation of translation initiation of poly(A)-containing mRNAs. Its inhibitory activity on translation is mediated via its action on PABPC1. Displaces the interaction of PABPC1 with poly(A) RNA and competes with PAIP1 for binding to PABPC1. Its association with PABPC1 results in disruption of the cytoplasmic poly(A) RNP structure organization.',NULL,NULL,NULL,NULL,NULL),(15280,'UniProt Function',NULL,18250,NULL,'ATP-binding protein, which may act as a adapter in the Toll-like receptor (TLR) signaling.',NULL,NULL,NULL,NULL,NULL),(15281,'UniProt Function',NULL,18251,NULL,'May play a role in regeneration of skeletal muscle.',NULL,NULL,NULL,NULL,NULL),(15282,'UniProt Function',NULL,18252,NULL,'Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3\'-5\' exonucleolytic degradation, or deadenlyation-dependent mRNA decaping and subsequent 5\'-3\' exonucleolytic degradation by XRN1. Also acts as an important regulator of the HIF1A-mediated hypoxic response. Required for HIF1A mRNA stability independent of poly(A) tail length regulation.',NULL,NULL,NULL,NULL,NULL),(15283,'UniProt Function',NULL,18253,NULL,'Regulatory subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3\'-5\' exonucleolytic degradation, or deadenlyation-dependent mRNA decaping and subsequent 5\'-3\' exonucleolytic degradation by XRN1. PAN3 acts as a positive regulator for PAN activity, recruiting the catalytic subunit PAN2 to mRNA via its interaction with RNA and PABP, and to miRNA targets via its interaction with GW182 family proteins.',NULL,NULL,NULL,NULL,NULL),(15284,'UniProt Function',NULL,18254,NULL,'Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate.',NULL,NULL,NULL,NULL,NULL),(15285,'UniProt Function',NULL,18255,NULL,'Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis.',NULL,NULL,NULL,NULL,NULL),(15286,'UniProt Function',NULL,18255,NULL,'Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571).',NULL,NULL,NULL,NULL,NULL),(15287,'UniProt Function',NULL,18256,NULL,'Structural component of the gap junctions and the hemichannels. May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis.',NULL,NULL,NULL,NULL,NULL),(15288,'UniProt Function',NULL,18258,NULL,'Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions.',NULL,NULL,NULL,NULL,NULL),(15289,'UniProt Function',NULL,18259,NULL,'Involved in the dynamics of lysosomal membranes associated with microglial activation following brain lesion.',NULL,NULL,NULL,NULL,NULL),(15290,'UniProt Function',NULL,18260,NULL,'Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). May deliver of one or more Fe-S clusters to complex I subunits.',NULL,NULL,NULL,NULL,NULL),(15291,'UniProt Function',NULL,18261,NULL,'Serine/threonine-protein kinase involved in various processes such as cell adhesion, regulation of cell ploidy and senescence, cell proliferation and tumor progression. Phosphorylates ATM, CASP6, LATS1, PPP1R12A and p53/TP53. Acts as a regulator of cellular senescence and cellular ploidy by mediating phosphorylation of \'Ser-464\' of LATS1, thereby controlling its stability. Controls cell adhesion by regulating activity of the myosin protein phosphatase 1 (PP1) complex. Acts by mediating phosphorylation of PPP1R12A subunit of myosin PP1: phosphorylated PPP1R12A then interacts with 14-3-3, leading to reduced dephosphorylation of myosin MLC2 by myosin PP1. May be involved in DNA damage response: phosphorylates p53/TP53 at \'Ser-15\' and \'Ser-392\' and is recruited to the CDKN1A/WAF1 promoter to participate to transcription activation by p53/TP53. May also act as a tumor malignancy-associated factor by promoting tumor invasion and metastasis under regulation and phosphorylation by AKT1. Suppresses Fas-induced apoptosis by mediating phosphorylation of CASP6, thereby suppressing the activation of the caspase and the subsequent cleavage of CFLAR. Regulates UV radiation-induced DNA damage response mediated by CDKN1A. In association with STK11, phosphorylates CDKN1A in response to UV radiation and contributes to its degradation which is necessary for optimal DNA repair (PubMed:25329316).',NULL,NULL,NULL,NULL,NULL),(15292,'UniProt Function',NULL,18262,NULL,'Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.',NULL,NULL,NULL,NULL,NULL),(15293,'UniProt Function',NULL,18263,NULL,'Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation (PubMed:27534431). Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation (PubMed:27538435). In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta. Plays a neuroprotective role in the eye and optic nerve. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and hungtingtin (HD). Mediates the interaction of Rab8 with the probable GTPase-activating protein TBC1D17 during Rab8-mediated endocytic trafficking, such as of transferrin receptor (TFRC/TfR); regulates Rab8 recruitment to tubules emanating from the endocytic recycling compartment. Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family; targets ubiquitin-coated bacteria (xenophagy), such as cytoplasmic Salmonella enterica, and appears to function in the same pathway as SQSTM1 and CALCOCO2/NDP52.',NULL,NULL,NULL,NULL,NULL),(15294,'UniProt Function',NULL,18263,NULL,'(Microbial infection) May constitute a cellular target for adenovirus E3 14.7 and Bluetongue virus protein NS3 to inhibit innate immune response.',NULL,NULL,NULL,NULL,NULL),(15295,'UniProt Function',NULL,18264,NULL,'May play a role in rpe physiology either by detecting light directly or by monitoring the concentration of retinoids or other photoreceptor-derived compounds.',NULL,NULL,NULL,NULL,NULL),(15296,'UniProt Function',NULL,18265,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15297,'UniProt Function',NULL,18266,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15298,'UniProt Function',NULL,18267,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15299,'UniProt Function',NULL,18268,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15300,'UniProt Function',NULL,18269,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15301,'UniProt Function',NULL,18270,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15302,'UniProt Function',NULL,18271,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15303,'UniProt Function',NULL,18272,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15304,'UniProt Function',NULL,18273,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15305,'UniProt Function',NULL,18274,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15306,'UniProt Function',NULL,18275,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15307,'UniProt Function',NULL,18276,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15308,'UniProt Function',NULL,18277,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15309,'UniProt Function',NULL,18278,NULL,'Ca(2+) release-activated Ca(2+)-like (CRAC-like) channel subunit which mediates Ca(2+) influx and increase in Ca(2+)-selective current by synergy with the Ca(2+) sensor, STIM1.',NULL,NULL,NULL,NULL,NULL),(15310,'UniProt Function',NULL,18279,NULL,'Key regulator or component of store-operated Ca(2+) channel and transcription factor NFAT nuclear import.',NULL,NULL,NULL,NULL,NULL),(15311,'UniProt Function',NULL,18280,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15312,'UniProt Function',NULL,18281,NULL,'Odorant receptor (Potential). May be involved in taste perception.',NULL,NULL,NULL,NULL,NULL),(15313,'UniProt Function',NULL,18282,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15314,'UniProt Function',NULL,18283,NULL,'Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Does not bind histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3.',NULL,NULL,NULL,NULL,NULL),(15315,'UniProt Function',NULL,18284,NULL,'Regulates the differentiation and proliferation of normal cells through the regulation of cell death.',NULL,NULL,NULL,NULL,NULL),(15316,'UniProt Function',NULL,18285,NULL,'Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and alters functional properties of late endocytic compartments via its interaction with RAB7A (PubMed:16176980). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193).',NULL,NULL,NULL,NULL,NULL),(15317,'UniProt Function',NULL,18286,NULL,'Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (PubMed:11279184). Binds 25-hydroxycholesterol (PubMed:17428193).',NULL,NULL,NULL,NULL,NULL),(15318,'UniProt Function',NULL,18287,NULL,'Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood. Efficiently transports the major species of bile acids. Modulates SLC51A glycosylation, membrane trafficking and stability activities.',NULL,NULL,NULL,NULL,NULL),(15319,'UniProt Function',NULL,18288,NULL,'Required for osteoclast and melanocyte maturation and function.',NULL,NULL,NULL,NULL,NULL),(15320,'UniProt Function',NULL,18290,NULL,'Receptor for platelet activating factor, a chemotactic phospholipid mediator that possesses potent inflammatory, smooth-muscle contractile and hypotensive activity. Seems to mediate its action via a G protein that activates a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(15321,'UniProt Function',NULL,18291,NULL,'Collagen-like protein specifically expressed in the inner ear, which provides an organic scaffold for otoconia, a calcium carbonate structure in the saccule and utricle of the ear. Acts as a scaffold for biomineralization: sequesters calcium and forms interconnecting fibrils between otoconia that are incorporated into the calcium crystal structure. Together with OC90, modulates calcite crystal morphology and growth kinetics.',NULL,NULL,NULL,NULL,NULL),(15322,'UniProt Function',NULL,18292,NULL,'Proton-selective channel that specifically transports protons into cells. Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes.',NULL,NULL,NULL,NULL,NULL),(15323,'UniProt Function',NULL,18294,NULL,'May be essential for the survival of the neurosensory epithelium of the inner ear.',NULL,NULL,NULL,NULL,NULL),(15324,'UniProt Function',NULL,18295,NULL,'RNA-binding protein which binds to intronic polypyrimidine tracts and mediates negative regulation of exons splicing. May antagonize in a tissue-specific manner the ability of NOVA1 to activate exon selection. In addition to its function in pre-mRNA splicing, plays also a role in the regulation of translation. Isoform 5 has a reduced affinity for RNA.',NULL,NULL,NULL,NULL,NULL),(15325,'UniProt Function',NULL,18296,NULL,'Probably involved in the differentiation of hypothalamic neuroendocrine cells.',NULL,NULL,NULL,NULL,NULL),(15326,'UniProt Function',NULL,18297,NULL,'Deubiquitinating enzyme that hydrolyzes \'Lys-27\'-, \'Lys-29\'- and \'Lys-33\'-linked polyubiquitin chains. Also able to hydrolyze \'Lys-11\'-linked ubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(15327,'UniProt Function',NULL,18298,NULL,'Isoform 1: Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1 (PubMed:21267069, PubMed:27864334). May associate with the protein synthesis initiation complex and modify its ubiquitination to repress translation (PubMed:27864334). May also repress DNA synthesis and modify different cellular targets thereby regulating cell growth and proliferation (PubMed:27864334). May also play a role in proteasome assembly and function (PubMed:28343629).',NULL,NULL,NULL,NULL,NULL),(15328,'UniProt Function',NULL,18298,NULL,'Isoform 2: Stimulates protein synthesis. Influences the expression of CCND1/cyclin D1 by promoting its translation and regulates MYC/c-Myc protein stability.',NULL,NULL,NULL,NULL,NULL),(15329,'UniProt Function',NULL,18299,NULL,'Has deubiquitinating activity towards \'Lys-11\'-linked polyubiquitin chains.',NULL,NULL,NULL,NULL,NULL),(15330,'UniProt Function',NULL,18300,NULL,'Negative regulator of the non-canonical NF-kappa-B pathway that acts by mediating deubiquitination of TRAF3, an inhibitor of the NF-kappa-B pathway, thereby acting as a negative regulator of B-cell responses. In response to non-canonical NF-kappa-B stimuli, deubiquitinates \'Lys-48\'-linked polyubiquitin chains of TRAF3, preventing TRAF3 proteolysis and over-activation of non-canonical NF-kappa-B. Negatively regulates mucosal immunity against infections (By similarity). Deubiquitinates ZAP70, and thereby regulates T cell receptor (TCR) signaling that leads to the activation of NF-kappa-B (PubMed:26903241). Plays a role in T cell homeostasis and is required for normal T cell responses, including production of IFNG and IL2 (By similarity). Mediates deubiquitination of EGFR (PubMed:22179831). Has deubiquitinating activity toward \'Lys-11\', \'Lys-48\' and \'Lys-63\'-linked polyubiquitin chains (PubMed:27732584). Has a much higher catalytic rate with \'Lys-11\'-linked polyubiquitin chains (in vitro); however the physiological significance of these data are unsure (PubMed:27732584). Hydrolyzes both linear and branched forms of polyubiquitin.',NULL,NULL,NULL,NULL,NULL),(15331,'UniProt Function',NULL,18302,NULL,'Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Affects also the 3\'-processing of mitochondrial tRNAs.',NULL,NULL,NULL,NULL,NULL),(15332,'UniProt Function',NULL,18303,NULL,'Deubiquitinating enzyme that specifically hydrolyzes \'Lys-63\'-linked polyubiquitin to monoubiquitin.',NULL,NULL,NULL,NULL,NULL),(15333,'UniProt Function',NULL,18304,NULL,'Nonselective, high-affinity receptor for both orexin-A and orexin-B neuropeptides (PubMed:9491897, PubMed:26950369). Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding (PubMed:9491897, PubMed:26950369).',NULL,NULL,NULL,NULL,NULL),(15334,'UniProt Function',NULL,18305,NULL,'Zinc-finger transcription repressor factor (PubMed:19700410). Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT inducer (By similarity). Positively regulates neuronal differentiation (By similarity). Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1 (PubMed:19700410). Important for the correct development of primordial germ cells in embryos (By similarity).',NULL,NULL,NULL,NULL,NULL),(15335,'UniProt Function',NULL,18306,NULL,'Is able to inhibit all four classes of proteinases by a unique \'trapping\' mechanism.',NULL,NULL,NULL,NULL,NULL),(15336,'UniProt Function',NULL,18309,NULL,'The natural substrate for this enzyme may be peptidyl-tRNAs which drop off the ribosome during protein synthesis.',NULL,NULL,NULL,NULL,NULL),(15337,'UniProt Function',NULL,18309,NULL,'Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1.',NULL,NULL,NULL,NULL,NULL),(15338,'UniProt Function',NULL,18310,NULL,'Receptor for ADP and ATP coupled to G-proteins that inhibit the adenylyl cyclase second messenger system. Not activated by UDP and UTP. Required for normal platelet aggregation and blood coagulation.',NULL,NULL,NULL,NULL,NULL),(15339,'UniProt Function',NULL,18311,NULL,'Receptor for ATP that acts as a ligand-gated cation channel (PubMed:27626375). Plays a role in sensory perception. Required for normal perception of pain. Required for normal taste perception (By similarity).',NULL,NULL,NULL,NULL,NULL),(15340,'UniProt Function',NULL,18312,NULL,'Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the antagonists PPADS and suramin.',NULL,NULL,NULL,NULL,NULL),(15341,'UniProt Function',NULL,18313,NULL,'Potential NADPH-dependent oxidoreductase. May be involved in the regulation of neuronal survival, differentiation and axonal outgrowth.',NULL,NULL,NULL,NULL,NULL),(15342,'UniProt Function',NULL,18314,NULL,'Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells. In the absence of its natural ligand, ATP, functions as a scavenger receptor in the recognition and engulfment of apoptotic cells (PubMed:21821797, PubMed:23303206).',NULL,NULL,NULL,NULL,NULL),(15343,'UniProt Function',NULL,18315,NULL,'Receptor for extracellular adenine nucleotides such as ADP (PubMed:9442040, PubMed:9038354, PubMed:25822790). In platelets, binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and ultimately platelet aggregation (PubMed:9442040).',NULL,NULL,NULL,NULL,NULL),(15344,'UniProt Function',NULL,18316,NULL,'Receptor for ATP and UTP coupled to G-proteins that activate a phosphatidylinositol-calcium second messenger system. The affinity range is UTP = ATP > ATP-gamma-S >> 2-methylthio-ATP = ADP.',NULL,NULL,NULL,NULL,NULL),(15345,'UniProt Function',NULL,18317,NULL,'Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.',NULL,NULL,NULL,NULL,NULL),(15346,'UniProt Function',NULL,18318,NULL,'Receptor for extracellular UDP > UTP > ATP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(15347,'UniProt Function',NULL,18319,NULL,'Shows weak transcriptional activator activity.',NULL,NULL,NULL,NULL,NULL),(15348,'UniProt Function',NULL,18320,NULL,'Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. In cooperation with mitochondrial PPIF is involved in activating oxidative stress-induced necrosis; the function is largely independent of transcription. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-Mkln1. LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seems to have an effect on cell-cycle regulation. Implicated in Notch signaling cross-over. Prevents CDK7 kinase activity when associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Isoform 2 enhances the transactivation activity of isoform 1 from some but not all TP53-inducible promoters. Isoform 4 suppresses transactivation activity and impairs growth suppression mediated by isoform 1. Isoform 7 inhibits isoform 1-mediated apoptosis. Regulates the circadian clock by repressing CLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER2 (PubMed:24051492).',NULL,NULL,NULL,NULL,NULL),(15349,'UniProt Function',NULL,18321,NULL,'Participates in the apoptotic response to DNA damage. Isoforms containing the transactivation domain are pro-apoptotic, isoforms lacking the domain are anti-apoptotic and block the function of p53 and transactivating p73 isoforms. May be a tumor suppressor protein.',NULL,NULL,NULL,NULL,NULL),(15350,'UniProt Function',NULL,18322,NULL,'Catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides (PubMed:2925633). Thought to participate in the regulation of phospholipid metabolism in biomembranes including eicosanoid biosynthesis. Independent of its catalytic activity, acts as a ligand for integrins (PubMed:18635536, PubMed:25398877). Binds to and activates integrins ITGAV:ITGB3, ITGA4:ITGB1 and ITGA5:ITGB1 (PubMed:18635536, PubMed:25398877). Binds to a site (site 2) which is distinct from the classical ligand-binding site (site 1) and induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:25398877). Induces cell proliferation in an integrin-dependent manner (PubMed:18635536).',NULL,NULL,NULL,NULL,NULL),(15351,'UniProt Function',NULL,18324,NULL,'Acts as a transcriptional repressor by inhibiting gene expression at the NUPR1 promoter in a p53/TP53-dependent manner in cancer cells (PubMed:25899918). Involved in the G1 cell cycle arrest, and in a decrease in cell viability and cell proliferation (PubMed:25899918). Plays a role as a negative regulator of the protumoral factor NUPR1 (PubMed:25899918).',NULL,NULL,NULL,NULL,NULL),(15352,'UniProt Function',NULL,18325,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15353,'UniProt Function',NULL,18326,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15354,'UniProt Function',NULL,18327,NULL,'Odorant receptor (Potential). May be involved in taste perception.',NULL,NULL,NULL,NULL,NULL),(15355,'UniProt Function',NULL,18328,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15356,'UniProt Function',NULL,18329,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15357,'UniProt Function',NULL,18330,NULL,'3\'-to-5\' exoribonuclease specific for small oligoribonucleotides. Active on small (primarily </=5 nucleotides in length) single-stranded RNA and DNA oligomers. May have a role in cellular nucleotide recycling.',NULL,NULL,NULL,NULL,NULL),(15358,'UniProt Function',NULL,18331,NULL,'Enzyme that catalyzes the last step in proline biosynthesis. Proline is synthesized from either glutamate or ornithine; both are converted to pyrroline-5-carboxylate (P5C), and then to proline via pyrroline-5-carboxylate reductases (PYCRs). PYCRL is exclusively linked to the conversion of ornithine to proline.',NULL,NULL,NULL,NULL,NULL),(15359,'UniProt Function',NULL,18332,NULL,'Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling (PubMed:17626883, PubMed:19805105, PubMed:7518429). Modulates the cellular response to ER stress by promoting nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (PubMed:20348923).',NULL,NULL,NULL,NULL,NULL),(15360,'UniProt Function',NULL,18333,NULL,'Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG2. Plays a role in the regulation of epithelial morphogenesis. The ratio of DeltaN-type and TA*-type isoforms may govern the maintenance of epithelial stem cell compartments and regulate the initiation of epithelial stratification from the undifferentiated embryonal ectoderm. Required for limb formation from the apical ectodermal ridge. Activates transcription of the p21 promoter.',NULL,NULL,NULL,NULL,NULL),(15361,'UniProt Function',NULL,18334,NULL,'Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. Has higher enzyme activity for phosphatidylethanolamine than phosphatidylcholine (By similarity).',NULL,NULL,NULL,NULL,NULL),(15362,'UniProt Function',NULL,18335,NULL,'PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. This isozyme hydrolyzes more efficiently L-alpha-1-palmitoyl-2-oleoyl phosphatidylcholine than L-alpha-1-palmitoyl-2-arachidonyl phosphatidylcholine, L-alpha-1-palmitoyl-2-arachidonyl phosphatidylethanolamine, or L-alpha-1-stearoyl-2-arachidonyl phosphatidylinositol. May be involved in the production of lung surfactant, the remodeling or regulation of cardiac muscle.',NULL,NULL,NULL,NULL,NULL),(15363,'UniProt Function',NULL,18336,NULL,'Housekeeping enzyme that catalyzes the last step in proline biosynthesis. Can utilize both NAD and NADP, but has higher affinity for NAD. Involved in the cellular response to oxidative stress.',NULL,NULL,NULL,NULL,NULL),(15364,'UniProt Function',NULL,18337,NULL,'PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Has a preference for arachidonic-containing phospholipids.',NULL,NULL,NULL,NULL,NULL),(15365,'UniProt Function',NULL,18338,NULL,'Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to the cell cortex. Plays a role in the regulation of neurite formation, neurite branching and the regulation of neurite length. Required for normal synaptic vesicle endocytosis; this process retrieves previously released neurotransmitters to accommodate multiple cycles of neurotransmission. Required for normal excitatory and inhibitory synaptic transmission (By similarity). Binds to membranes via its F-BAR domain and mediates membrane tubulation.',NULL,NULL,NULL,NULL,NULL),(15366,'UniProt Function',NULL,18339,NULL,'Lipid-binding protein that is able to promote the tubulation of the phosphatidic acid-containing membranes it preferentially binds. Plays a role in intracellular vesicle-mediated transport. Involved in the endocytosis of cell-surface receptors like the EGF receptor, contributing to its internalization in the absence of EGF stimulus. May also play a role in the formation of caveolae at the cell membrane. Recruits DNM2 to caveolae, and thereby plays a role in caveola-mediated endocytosis.',NULL,NULL,NULL,NULL,NULL),(15367,'UniProt Function',NULL,18340,NULL,'Catalyzes the deimination of arginine residues of proteins (By similarity). May be involved in cytoskeletal reorganization in the egg and early embryo (PubMed:27545678).',NULL,NULL,NULL,NULL,NULL),(15368,'UniProt Function',NULL,18342,NULL,'Glycoprotein that regulates critical steps during fertilization and also has immunomonomodulatory effects. Four glycoforms, namely glycodelin-S, -A, -F and -C have been identified in reproductive tissues that differ in glycosylation and biological activity. Glycodelin-A has contraceptive and immunosuppressive activities (PubMed:9918684, PubMed:7531163). Glycodelin-C stimulates binding of spermatozoa to the zona pellucida (PubMed:17192260). Glycodelin-F inhibits spermatozoa-zona pellucida binding and significantly suppresses progesterone-induced acrosome reaction of spermatozoa (PubMed:12672671). Glycodelin-S in seminal plasma maintains the uncapacitated state of human spermatozoa (PubMed:15883155).',NULL,NULL,NULL,NULL,NULL),(15369,'UniProt Function',NULL,18344,NULL,'Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. However, in association with PAXIP1/PTIP is proposed to function at least in part independently of the MLL2/MLL3 complex. Proposed to be recruited by PAXIP1 to sites of DNA damage where the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage independently of the MLL2/MLL3 complex (PubMed:19124460). However, its function in DNA damage has been questioned (By similarity). During immunoglobulin class switching in activated B-cells is involved in transcription regulation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus independently of the MLL2/MLL3 complex (By similarity). Involved in both estrogen receptor-regulated gene transcription and estrogen-stimulated G1/S cell-cycle transition (PubMed:19039327). Acts as transcriptional cofactor for nuclear hormone receptors. Inhibits the induction properties of several steroid receptors such as NR3C1, AR and PPARG; the mechanism of inhibition appears to be gene-dependent (PubMed:23161582).',NULL,NULL,NULL,NULL,NULL),(15370,'UniProt Function',NULL,18345,NULL,'Inhibits urokinase-type plasminogen activator. The monocyte derived PAI-2 is distinct from the endothelial cell-derived PAI-1.',NULL,NULL,NULL,NULL,NULL),(15371,'UniProt Function',NULL,18346,NULL,'May play a role in the regulation of mRNA stability. Binds to the 3\'-most 134 nt of the SERPINE1/PAI1 mRNA, a region which confers cyclic nucleotide regulation of message decay.',NULL,NULL,NULL,NULL,NULL),(15372,'UniProt Function',NULL,18347,NULL,'PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity).',NULL,NULL,NULL,NULL,NULL),(15373,'UniProt Function',NULL,18348,NULL,'PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.',NULL,NULL,NULL,NULL,NULL),(15374,'UniProt Function',NULL,18349,NULL,'Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks (PubMed:16793542, PubMed:19423707, PubMed:19369211, PubMed:22941656, PubMed:24141787, PubMed:28319063). Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA) (PubMed:20871615). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51 (PubMed:20871616). Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination (PubMed:19369211). Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair (PubMed:24141787). Essential partner of BRCA2 that promotes the localization and stability of BRCA2 (PubMed:16793542). Also enables its recombinational repair and checkpoint functions of BRCA2 (PubMed:16793542). May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation (PubMed:16793542). Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures (PubMed:20871616). May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with BRCA2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity (PubMed:24485656).',NULL,NULL,NULL,NULL,NULL),(15375,'UniProt Function',NULL,18350,NULL,'Involved in plasma membrane dynamics and cell process formation. Isoform 1 and isoform 2 are necessary for axonal and dendritic filopodia induction, for dendritic spine maturation and synapse formation in a palmitoylation-dependent manner.',NULL,NULL,NULL,NULL,NULL),(15376,'UniProt Function',NULL,18351,NULL,'Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May function as a scaffolding molecule with the potential to influence both actin polymerization and the assembly of existing actin filaments into higher-order arrays. Binds to proteins that bind to either monomeric or filamentous actin. Localizes at sites where active actin remodeling takes place, such as lamellipodia and membrane ruffles. Different isoforms may have functional differences. Involved in the control of morphological and cytoskeletal changes associated with dendritic cell maturation. Involved in targeting ACTN to specific subcellular foci.',NULL,NULL,NULL,NULL,NULL),(15377,'UniProt Function',NULL,18353,NULL,'Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. In case of infection by HIV-1, it may participate in the docking of viral Vpr at the nuclear envelope.',NULL,NULL,NULL,NULL,NULL),(15378,'UniProt Function',NULL,18354,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15379,'UniProt Function',NULL,18355,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15380,'UniProt Function',NULL,18356,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15381,'UniProt Function',NULL,18357,NULL,'Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane.',NULL,NULL,NULL,NULL,NULL),(15382,'UniProt Function',NULL,18358,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15383,'UniProt Function',NULL,18359,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15384,'UniProt Function',NULL,18360,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15385,'UniProt Function',NULL,18361,NULL,'Essential component of the nuclear pore complex (PubMed:1915414). The N-terminal is probably involved in nucleocytoplasmic transport (PubMed:1915414). The C-terminal is involved in protein-protein interaction probably via coiled-coil formation, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex (PubMed:1915414, PubMed:24107630). Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation (PubMed:24107630). It might be involved in protein recruitment to the centrosome after nuclear breakdown (PubMed:24107630).',NULL,NULL,NULL,NULL,NULL),(15386,'UniProt Function',NULL,18362,NULL,'Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance (PubMed:12718872). As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to the nucleus (PubMed:12718872). The Nup107-160 complex seems to be required for spindle assembly during mitosis (PubMed:16807356). NUP85 is required for membrane clustering of CCL2-activated CCR2 (PubMed:15995708). Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade (PubMed:15995708).',NULL,NULL,NULL,NULL,NULL),(15387,'UniProt Function',NULL,18363,NULL,'Essential component of nuclear pore complex.',NULL,NULL,NULL,NULL,NULL),(15388,'UniProt Function',NULL,18364,NULL,'Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 signaling (PubMed:26878725).',NULL,NULL,NULL,NULL,NULL),(15389,'UniProt Function',NULL,18365,NULL,'Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC. May anchor NUP153 and TPR to the NPC. In cooperation with DHX9, plays a role in transcription and alternative splicing activation of a subset of genes (PubMed:28221134). Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body) (PubMed:28221134).',NULL,NULL,NULL,NULL,NULL),(15390,'UniProt Function',NULL,18366,NULL,'Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA.',NULL,NULL,NULL,NULL,NULL),(15391,'UniProt Function',NULL,18367,NULL,'Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in cytoplasmic and nuclear proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc) (PubMed:26678539, PubMed:23103939, PubMed:21240259, PubMed:21285374, PubMed:15361863). Glycosylates a large and diverse number of proteins including histone H2B, AKT1, EZH2, PFKL, KMT2E/MLL5, MAPT/TAU and HCFC1. Can regulate their cellular processes via cross-talk between glycosylation and phosphorylation or by affecting proteolytic processing (PubMed:21285374). Probably by glycosylating KMT2E/MLL5, stabilizes KMT2E/MLL5 by preventing its ubiquitination (PubMed:26678539). Involved in insulin resistance in muscle and adipocyte cells via glycosylating insulin signaling components and inhibiting the \'Thr-308\' phosphorylation of AKT1, enhancing IRS1 phosphorylation and attenuating insulin signaling (By similarity). Involved in glycolysis regulation by mediating glycosylation of 6-phosphofructokinase PFKL, inhibiting its activity (PubMed:22923583). Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. Plays a key role in chromatin structure by mediating O-GlcNAcylation of \'Ser-112\' of histone H2B: recruited to CpG-rich transcription start sites of active genes via its interaction with TET proteins (TET1, TET2 or TET3) (PubMed:22121020, PubMed:23353889). As part of the NSL complex indirectly involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852). O-GlcNAcylation of \'Ser-75\' of EZH2 increases its stability, and facilitating the formation of H3K27me3 by the PRC2/EED-EZH2 complex (PubMed:24474760). Regulates circadian oscillation of the clock genes and glucose homeostasis in the liver. Stabilizes clock proteins ARNTL/BMAL1 and CLOCK through O-glycosylation, which prevents their ubiquitination and subsequent degradation. Promotes the CLOCK-ARNTL/BMAL1-mediated transcription of genes in the negative loop of the circadian clock such as PER1/2 and CRY1/2 (PubMed:12150998, PubMed:19451179, PubMed:20018868, PubMed:20200153, PubMed:21285374, PubMed:15361863). O-glycosylates HCFC1 and regulates its proteolytic processing and transcriptional activity (PubMed:21285374, PubMed:28584052, PubMed:28302723). Regulates mitochondrial motility in neurons by mediating glycosylation of TRAK1 (By similarity). Glycosylates HOXA1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(15392,'UniProt Function',NULL,18367,NULL,'Isoform 2: the mitochondrial isoform (mOGT) is cytotoxic and triggers apoptosis in several cell types including INS1, an insulinoma cell line.',NULL,NULL,NULL,NULL,NULL),(15393,'UniProt Function',NULL,18369,NULL,'May be involved in hepatocellular function and development.',NULL,NULL,NULL,NULL,NULL),(15394,'UniProt Function',NULL,18371,NULL,'Transcriptional coactivator involved in neuroepithelial stem cell differentiation and neurogenesis. Involved in particular in lens epithelial cell gene regulation and stress responses. May play an important role in lens epithelial to fiber cell terminal differentiation. May play a protective role during stress-induced apoptosis. Isoform 2 is a more general and stronger transcriptional coactivator. Isoform 2 may also act as an adapter to coordinate pre-mRNA splicing. Cellular cofactor for lentiviral integration.',NULL,NULL,NULL,NULL,NULL),(15395,'UniProt Function',NULL,18372,NULL,'As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions.',NULL,NULL,NULL,NULL,NULL),(15396,'UniProt Function',NULL,18373,NULL,'Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission (PubMed:16778770, PubMed:17709429, PubMed:20185555, PubMed:24616225, PubMed:28746876). Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion (PubMed:17709429). Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation (PubMed:20185555). The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes (PubMed:20185555). Plays a role in remodeling cristae and the release of cytochrome c during apoptosis (By similarity). Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space (By similarity). Plays a role in mitochondrial genome maintenance (PubMed:20974897, PubMed:18158317).',NULL,NULL,NULL,NULL,NULL),(15397,'UniProt Function',NULL,18373,NULL,'Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation of mitochondrial fusion.',NULL,NULL,NULL,NULL,NULL),(15398,'UniProt Function',NULL,18373,NULL,'Isoforms that contain the alternative exon 4b (present in isoform 4 and isoform 5) are required for mitochondrial genome maintenance, possibly by anchoring the mitochondrial nucleoids to the inner mitochondrial membrane.',NULL,NULL,NULL,NULL,NULL),(15399,'UniProt Function',NULL,18375,NULL,'May play some role in mitochondrial processes.',NULL,NULL,NULL,NULL,NULL),(15400,'UniProt Function',NULL,18376,NULL,'Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG2. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization.',NULL,NULL,NULL,NULL,NULL),(15401,'UniProt Function',NULL,18377,NULL,'Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization.',NULL,NULL,NULL,NULL,NULL),(15402,'UniProt Function',NULL,18378,NULL,'Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity).',NULL,NULL,NULL,NULL,NULL),(15403,'UniProt Function',NULL,18379,NULL,'May play a role in encephalic photoreception.',NULL,NULL,NULL,NULL,NULL),(15404,'UniProt Function',NULL,18380,NULL,'Photoreceptor required for regulation of circadian rhythm. Contributes to pupillar reflex and other non-image forming responses to light. May be able to isomerize covalently bound all-trans retinal back to 11-cis retinal (By similarity).',NULL,NULL,NULL,NULL,NULL),(15405,'UniProt Function',NULL,18381,NULL,'Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins.',NULL,NULL,NULL,NULL,NULL),(15406,'UniProt Function',NULL,18382,NULL,'Regulates, cooperatively with NONO and SFPQ, androgen receptor-mediated gene transcription activity in Sertoli cell line (By similarity). Binds to poly(A), poly(G) and poly(U) RNA homopolymers. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer (By similarity). Together with NONO, required for the formation of nuclear paraspeckles. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway.',NULL,NULL,NULL,NULL,NULL),(15407,'UniProt Function',NULL,18383,NULL,'Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces.',NULL,NULL,NULL,NULL,NULL),(15408,'UniProt Function',NULL,18384,NULL,'Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate, and for normal rate of chromosomal segregation during anaphase. Plays a role in the regulation of mitotic spindle dynamics. Increases the rate of turnover of microtubules on metaphase spindles, and contributes to the generation of normal tension across sister kinetochores. Recruits KIF2A and ANKRD53 to the mitotic spindle and spindle poles. May participate in p53/TP53-regulated growth suppression.',NULL,NULL,NULL,NULL,NULL),(15409,'UniProt Function',NULL,18385,NULL,'G-protein coupled receptor that functions as receptor for endogenous enkephalins and for a subset of other opioids. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Plays a role in the perception of pain and in opiate-mediated analgesia. Plays a role in developing analgesic tolerance to morphine.',NULL,NULL,NULL,NULL,NULL),(15410,'UniProt Function',NULL,18386,NULL,'G-protein coupled opioid receptor that functions as receptor for endogenous alpha-neoendorphins and dynorphins, but has low affinity for beta-endorphins. Also functions as receptor for various synthetic opioids and for the psychoactive diterpene salvinorin A. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Plays a role in the perception of pain. Plays a role in mediating reduced physical activity upon treatment with synthetic opioids. Plays a role in the regulation of salivation in response to synthetic opioids. May play a role in arousal and regulation of autonomic and neuroendocrine functions.',NULL,NULL,NULL,NULL,NULL),(15411,'UniProt Function',NULL,18387,NULL,'G-protein coupled opioid receptor that functions as receptor for the endogenous neuropeptide nociceptin. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling via G proteins mediates inhibition of adenylate cyclase activity and calcium channel activity. Arrestins modulate signaling via G proteins and mediate the activation of alternative signaling pathways that lead to the activation of MAP kinases. Plays a role in modulating nociception and the perception of pain. Plays a role in the regulation of locomotor activity by the neuropeptide nociceptin.',NULL,NULL,NULL,NULL,NULL),(15412,'UniProt Function',NULL,18388,NULL,'Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.',NULL,NULL,NULL,NULL,NULL),(15413,'UniProt Function',NULL,18389,NULL,'Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.',NULL,NULL,NULL,NULL,NULL),(15414,'UniProt Function',NULL,18390,NULL,'Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.',NULL,NULL,NULL,NULL,NULL),(15415,'UniProt Function',NULL,18391,NULL,'Binds collagen fibrils.',NULL,NULL,NULL,NULL,NULL),(15416,'UniProt Function',NULL,18392,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15417,'UniProt Function',NULL,18393,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15418,'UniProt Function',NULL,18394,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15419,'UniProt Function',NULL,18395,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15420,'UniProt Function',NULL,18396,NULL,'Odorant receptor involved in the detection of the flavor compound cis-3-hexen-1-ol (C3HEX), a compound typically described as \'green grassy\' or the smell of \'cut grass\'.',NULL,NULL,NULL,NULL,NULL),(15421,'UniProt Function',NULL,18397,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15422,'UniProt Function',NULL,18398,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15423,'UniProt Function',NULL,18399,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15424,'UniProt Function',NULL,18400,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15425,'UniProt Function',NULL,18401,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15426,'UniProt Function',NULL,18402,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15427,'UniProt Function',NULL,18403,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15428,'UniProt Function',NULL,18404,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15429,'UniProt Function',NULL,18405,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15430,'UniProt Function',NULL,18406,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15431,'UniProt Function',NULL,18407,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15432,'UniProt Function',NULL,18408,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15433,'UniProt Function',NULL,18409,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15434,'UniProt Function',NULL,18410,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15435,'UniProt Function',NULL,18411,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15436,'UniProt Function',NULL,18412,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15437,'UniProt Function',NULL,18413,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15438,'UniProt Function',NULL,18414,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15439,'UniProt Function',NULL,18415,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15440,'UniProt Function',NULL,18416,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15441,'UniProt Function',NULL,18417,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15442,'UniProt Function',NULL,18418,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15443,'UniProt Function',NULL,18419,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15444,'UniProt Function',NULL,18420,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15445,'UniProt Function',NULL,18421,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15446,'UniProt Function',NULL,18422,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15447,'UniProt Function',NULL,18423,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15448,'UniProt Function',NULL,18424,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15449,'UniProt Function',NULL,18425,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15450,'UniProt Function',NULL,18426,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15451,'UniProt Function',NULL,18427,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15452,'UniProt Function',NULL,18428,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15453,'UniProt Function',NULL,18429,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15454,'UniProt Function',NULL,18430,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15455,'UniProt Function',NULL,18431,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15456,'UniProt Function',NULL,18432,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15457,'UniProt Function',NULL,18433,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15458,'UniProt Function',NULL,18434,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15459,'UniProt Function',NULL,18435,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15460,'UniProt Function',NULL,18436,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15461,'UniProt Function',NULL,18437,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15462,'UniProt Function',NULL,18438,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15463,'UniProt Function',NULL,18439,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15464,'UniProt Function',NULL,18440,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15465,'UniProt Function',NULL,18441,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15466,'UniProt Function',NULL,18442,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15467,'UniProt Function',NULL,18443,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15468,'UniProt Function',NULL,18444,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15469,'UniProt Function',NULL,18445,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15470,'UniProt Function',NULL,18446,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15471,'UniProt Function',NULL,18447,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15472,'UniProt Function',NULL,18448,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15473,'UniProt Function',NULL,18449,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15474,'UniProt Function',NULL,18450,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15475,'UniProt Function',NULL,18451,NULL,'Odorant receptor (Potential). May be involved in taste perception.',NULL,NULL,NULL,NULL,NULL),(15476,'UniProt Function',NULL,18452,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15477,'UniProt Function',NULL,18453,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15478,'UniProt Function',NULL,18454,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15479,'UniProt Function',NULL,18455,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15480,'UniProt Function',NULL,18456,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15481,'UniProt Function',NULL,18457,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15482,'UniProt Function',NULL,18458,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15483,'UniProt Function',NULL,18459,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15484,'UniProt Function',NULL,18460,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15485,'UniProt Function',NULL,18461,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15486,'UniProt Function',NULL,18462,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15487,'UniProt Function',NULL,18463,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15488,'UniProt Function',NULL,18464,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15489,'UniProt Function',NULL,18465,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15490,'UniProt Function',NULL,18466,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15491,'UniProt Function',NULL,18467,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15492,'UniProt Function',NULL,18468,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15493,'UniProt Function',NULL,18469,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15494,'UniProt Function',NULL,18470,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15495,'UniProt Function',NULL,18471,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15496,'UniProt Function',NULL,18472,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15497,'UniProt Function',NULL,18473,NULL,'Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3.',NULL,NULL,NULL,NULL,NULL),(15498,'UniProt Function',NULL,18474,NULL,'Hydrolyzes NAD(P)H to NMNH and AMP (2\',5\'-ADP), and diadenosine diphosphate to AMP. Has also activity towards NAD(P)(+), ADP-ribose and diadenosine triphosphate. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle.',NULL,NULL,NULL,NULL,NULL),(15499,'UniProt Function',NULL,18475,NULL,'Nucleolin is the major nucleolar protein of growing eukaryotic cells. It is found associated with intranucleolar chromatin and pre-ribosomal particles. It induces chromatin decondensation by binding to histone H1. It is thought to play a role in pre-rRNA transcription and ribosome assembly. May play a role in the process of transcriptional elongation. Binds RNA oligonucleotides with 5\'-UUAGGG-3\' repeats more tightly than the telomeric single-stranded DNA 5\'-TTAGGG-3\' repeats.',NULL,NULL,NULL,NULL,NULL),(15500,'UniProt Function',NULL,18476,NULL,'Probably mediates the hydrolysis of some nucleoside diphosphate derivatives.',NULL,NULL,NULL,NULL,NULL),(15501,'UniProt Function',NULL,18477,NULL,'Hydrolyzes ADP-ribose (ADPR) to AMP and ribose 5\'-phosphate.',NULL,NULL,NULL,NULL,NULL),(15502,'UniProt Function',NULL,18478,NULL,'Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication.',NULL,NULL,NULL,NULL,NULL),(15503,'UniProt Function',NULL,18479,NULL,'Regulator of osteoclastogenesis which plays an important bone-specific function in osteoclast differentiation.',NULL,NULL,NULL,NULL,NULL),(15504,'UniProt Function',NULL,18480,NULL,'May be involved in drug clearance in the placenta.',NULL,NULL,NULL,NULL,NULL),(15505,'UniProt Function',NULL,18482,NULL,'Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to fulfill this activity.',NULL,NULL,NULL,NULL,NULL),(15506,'UniProt Function',NULL,18483,NULL,'May be involved in meiosis or the maturation of germ cells.',NULL,NULL,NULL,NULL,NULL),(15507,'UniProt Function',NULL,18485,NULL,'Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:23934110, PubMed:26206935). May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes (PubMed:21220512). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193).',NULL,NULL,NULL,NULL,NULL),(15508,'UniProt Function',NULL,18486,NULL,'Weakly binds 25-hydroxycholesterol.',NULL,NULL,NULL,NULL,NULL),(15509,'UniProt Function',NULL,18487,NULL,'Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood. Efficiently transports the major species of bile acids.',NULL,NULL,NULL,NULL,NULL),(15510,'UniProt Function',NULL,18488,NULL,'Hormone that acts as a regulator of dendritic growth in the developing cerebral cortex in response to sensory experience (PubMed:27830782). Induced in the brain following membrane depolarization and inhibits dendritic branching in neurons of the developing cortex (PubMed:27830782). Probably acts by binding to natriuretic peptide receptor NPR3/NPR-C, thereby preventing binding between NPR3/NPR-C and natriuretic peptides, leading to increase cGMP production (By similarity).',NULL,NULL,NULL,NULL,NULL),(15511,'UniProt Function',NULL,18490,NULL,'Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity).',NULL,NULL,NULL,NULL,NULL),(15512,'UniProt Function',NULL,18491,NULL,'Proton-selective channel that specifically transports protons into cells. Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes.',NULL,NULL,NULL,NULL,NULL),(15513,'UniProt Function',NULL,18492,NULL,'May act as an adhesion molecule.',NULL,NULL,NULL,NULL,NULL),(15514,'UniProt Function',NULL,18495,NULL,'Binds to oocyte zona pellucida in vivo. May play a role in the fertilization process and/or early embryonic development.',NULL,NULL,NULL,NULL,NULL),(15515,'UniProt Function',NULL,18496,NULL,'Deubiquitinase which hydrolyzes the isopeptide bond between the ubiquitin C-terminus and the lysine epsilon-amino group of the target protein (PubMed:23827681, PubMed:25944111, PubMed:29395066). May negatively regulate inflammatory and pathogen recognition signaling in innate immune response. Upon phosphorylation at Ser-202 and Ser-204 residues, via IL-1 receptor and Toll-like receptor signaling pathway, specifically deubiquitinates \'Lys-63\'-polyubiquitinated MYD88 adapter protein triggering down-regulation of NF-kappa-B-dependent transcription of inflammatory mediators (PubMed:29395066). Independently of the catalytic activity, acts as a scaffold for alternative deubiquitinases to assemble specific deubiquitinase-substrate complexes. Associates with USP7 and USP9X deubiquitinases to stabilize alkylation repair enzyme ALKBH3, thereby promoting the repair of alkylated DNA lesions (PubMed:25944111).',NULL,NULL,NULL,NULL,NULL),(15516,'UniProt Function',NULL,18497,NULL,'Is able to inhibit all four classes of proteinases by a unique \'trapping\' mechanism.',NULL,NULL,NULL,NULL,NULL),(15517,'UniProt Function',NULL,18498,NULL,'Receptor for eicosanoids and polyunsaturated fatty acids such as 5-oxo-6E,8Z,11Z,14Z-eicosatetraenoic acid (5-OXO-ETE), 5(S)-hydroperoxy-6E,8Z,11Z,14Z-eicosatetraenoic acid (5(S)-HPETE) and arachidonic acid. Seems to be coupled to the G(i)/G(o), families of heteromeric G proteins.',NULL,NULL,NULL,NULL,NULL),(15518,'UniProt Function',NULL,18499,NULL,'Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5\'-TCTAATCCC-3\'.',NULL,NULL,NULL,NULL,NULL),(15519,'UniProt Function',NULL,18500,NULL,'Regulates the level of the neuromodulator D-serine in the brain. Has high activity towards D-DOPA and contributes to dopamine synthesis. Could act as a detoxifying agent which removes D-amino acids accumulated during aging. Acts on a variety of D-amino acids with a preference for those having small hydrophobic side chains followed by those bearing polar, aromatic, and basic groups. Does not act on acidic amino acids.',NULL,NULL,NULL,NULL,NULL),(15520,'UniProt Function',NULL,18501,NULL,'Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate with order of substrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4 (PubMed:26504226). The lipid phosphatase activity is critical for its tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival. The unphosphorylated form cooperates with AIP1 to suppress AKT1 activation. Dephosphorylates tyrosine-phosphorylated focal adhesion kinase and inhibits cell migration and integrin-mediated cell spreading and focal adhesion formation. Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. May be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. The nuclear monoubiquitinated form possesses greater apoptotic potential, whereas the cytoplasmic nonubiquitinated form induces less tumor suppressive ability. In motile cells, suppresses the formation of lateral pseudopods and thereby promotes cell polarization and directed movement.',NULL,NULL,NULL,NULL,NULL),(15521,'UniProt Function',NULL,18501,NULL,'Isoform alpha: Functional kinase, like isoform 1 it antagonizes the PI3K-AKT/PKB signaling pathway. Plays a role in mitochondrial energetic metabolism by promoting COX activity and ATP production, via collaboration with isoform 1 in increasing protein levels of PINK1.',NULL,NULL,NULL,NULL,NULL),(15522,'UniProt Function',NULL,18502,NULL,'Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL).',NULL,NULL,NULL,NULL,NULL),(15523,'UniProt Function',NULL,18503,NULL,'Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL).',NULL,NULL,NULL,NULL,NULL),(15524,'UniProt Function',NULL,18510,NULL,'The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization.',NULL,NULL,NULL,NULL,NULL),(15525,'UniProt Function',NULL,18511,NULL,'Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention.',NULL,NULL,NULL,NULL,NULL),(15526,'UniProt Function',NULL,18512,NULL,'May play a role in sperm development or sperm function.',NULL,NULL,NULL,NULL,NULL),(15527,'UniProt Function',NULL,18513,NULL,'Could act as a repressor of canonical hedgehog signaling by antagonizing the effects of SMO, as suggested by down-regulation of hedgehog target genes, including GLI1, PTCH1, and PTCH2 in PTCHD4-expressing cells.',NULL,NULL,NULL,NULL,NULL),(15528,'UniProt Function',NULL,18514,NULL,'Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle.',NULL,NULL,NULL,NULL,NULL),(15529,'UniProt Function',NULL,18515,NULL,'Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.',NULL,NULL,NULL,NULL,NULL),(15530,'UniProt Function',NULL,18516,NULL,'Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.',NULL,NULL,NULL,NULL,NULL),(15531,'UniProt Function',NULL,18517,NULL,'Catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at \'Pro-402\' and \'Pro-564\'. May function as a cellular oxygen sensor and, under normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von Hippel-Lindau ubiquitination complex.',NULL,NULL,NULL,NULL,NULL),(15532,'UniProt Function',NULL,18518,NULL,'Probable receptor for purines coupled to G-proteins.',NULL,NULL,NULL,NULL,NULL),(15533,'UniProt Function',NULL,18519,NULL,'Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic subunit.',NULL,NULL,NULL,NULL,NULL),(15534,'UniProt Function',NULL,18520,NULL,'Functions as a component of the nuclear pore complex (NPC). NPC components, collectively referred to as nucleoporins (NUPs), can play the role of both NPC structural components and of docking or interaction partners for transiently associated nuclear transport factors. May play a role in the association of MAD1 with the NPC.',NULL,NULL,NULL,NULL,NULL),(15535,'UniProt Function',NULL,18521,NULL,'Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.',NULL,NULL,NULL,NULL,NULL),(15536,'UniProt Function',NULL,18522,NULL,'Odorant receptor (Potential). May be involved in taste perception.',NULL,NULL,NULL,NULL,NULL),(15537,'UniProt Function',NULL,18523,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15538,'UniProt Function',NULL,18524,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15539,'UniProt Function',NULL,18525,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15540,'UniProt Function',NULL,18526,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15541,'UniProt Function',NULL,18527,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15542,'UniProt Function',NULL,18528,NULL,'Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate.',NULL,NULL,NULL,NULL,NULL),(15543,'UniProt Function',NULL,18529,NULL,'Receptor for endogenous opioids such as beta-endorphin and endomorphin. Receptor for natural and synthetic opioids including morphine, heroin, DAMGO, fentanyl, etorphine, buprenorphin and methadone (PubMed:7905839, PubMed:7957926, PubMed:7891175, PubMed:12589820, PubMed:9689128). Agonist binding to the receptor induces coupling to an inactive GDP-bound heterotrimeric G-protein complex and subsequent exchange of GDP for GTP in the G-protein alpha subunit leading to dissociation of the G-protein complex with the free GTP-bound G-protein alpha and the G-protein beta-gamma dimer activating downstream cellular effectors (PubMed:7905839). The agonist- and cell type-specific activity is predominantly coupled to pertussis toxin-sensitive G(i) and G(o) G alpha proteins, GNAI1, GNAI2, GNAI3 and GNAO1 isoforms Alpha-1 and Alpha-2, and to a lesser extent to pertussis toxin-insensitive G alpha proteins GNAZ and GNA15 (PubMed:12068084). They mediate an array of downstream cellular responses, including inhibition of adenylate cyclase activity and both N-type and L-type calcium channels, activation of inward rectifying potassium channels, mitogen-activated protein kinase (MAPK), phospholipase C (PLC), phosphoinositide/protein kinase (PKC), phosphoinositide 3-kinase (PI3K) and regulation of NF-kappa-B. Also couples to adenylate cyclase stimulatory G alpha proteins. The selective temporal coupling to G-proteins and subsequent signaling can be regulated by RGSZ proteins, such as RGS9, RGS17 and RGS4. Phosphorylation by members of the GPRK subfamily of Ser/Thr protein kinases and association with beta-arrestins is involved in short-term receptor desensitization. Beta-arrestins associate with the GPRK-phosphorylated receptor and uncouple it from the G-protein thus terminating signal transduction. The phosphorylated receptor is internalized through endocytosis via clathrin-coated pits which involves beta-arrestins. The activation of the ERK pathway occurs either in a G-protein-dependent or a beta-arrestin-dependent manner and is regulated by agonist-specific receptor phosphorylation. Acts as a class A G-protein coupled receptor (GPCR) which dissociates from beta-arrestin at or near the plasma membrane and undergoes rapid recycling. Receptor down-regulation pathways are varying with the agonist and occur dependent or independent of G-protein coupling. Endogenous ligands induce rapid desensitization, endocytosis and recycling whereas morphine induces only low desensitization and endocytosis. Heterooligomerization with other GPCRs can modulate agonist binding, signaling and trafficking properties. Involved in neurogenesis. Isoform 12 couples to GNAS and is proposed to be involved in excitatory effects (PubMed:20525224). Isoform 16 and isoform 17 do not bind agonists but may act through oligomerization with binding-competent OPRM1 isoforms and reduce their ligand binding activity (PubMed:16580639).',NULL,NULL,NULL,NULL,NULL),(15544,'UniProt Function',NULL,18530,NULL,'Photoreceptor required for image-forming vision at low light intensity (PubMed:8107847, PubMed:7846071). Required for photoreceptor cell viability after birth (PubMed:2215617, PubMed:12566452). Light-induced isomerization of the chromophore 11-cis-retinal to all-trans-retinal triggers a conformational change that activates signaling via G-proteins (PubMed:8107847, PubMed:28524165, PubMed:26200343, PubMed:28753425). Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by the arrestin SAG and terminates signaling (PubMed:28524165, PubMed:26200343).',NULL,NULL,NULL,NULL,NULL),(15545,'UniProt Function',NULL,18531,NULL,'Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.',NULL,NULL,NULL,NULL,NULL),(15546,'UniProt Function',NULL,18532,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15547,'UniProt Function',NULL,18533,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15548,'UniProt Function',NULL,18534,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15549,'UniProt Function',NULL,18535,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15550,'UniProt Function',NULL,18536,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15551,'UniProt Function',NULL,18537,NULL,'Odorant receptor which may be involved in sperm chemotaxis. Bourgeonal is a strong chemoattractant for sperm in vitro and is shown to be a strong agonist for OR1D2 in vitro. May also function in olfactory reception.',NULL,NULL,NULL,NULL,NULL),(15552,'UniProt Function',NULL,18538,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15553,'UniProt Function',NULL,18539,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15554,'UniProt Function',NULL,18540,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15555,'UniProt Function',NULL,18541,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15556,'UniProt Function',NULL,18542,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15557,'UniProt Function',NULL,18543,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15558,'UniProt Function',NULL,18544,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15559,'UniProt Function',NULL,18545,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15560,'UniProt Function',NULL,18546,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15561,'UniProt Function',NULL,18547,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15562,'UniProt Function',NULL,18548,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15563,'UniProt Function',NULL,18549,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15564,'UniProt Function',NULL,18550,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15565,'UniProt Function',NULL,18551,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15566,'UniProt Function',NULL,18552,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15567,'UniProt Function',NULL,18553,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15568,'UniProt Function',NULL,18554,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15569,'UniProt Function',NULL,18555,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15570,'UniProt Function',NULL,18556,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15571,'UniProt Function',NULL,18557,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15572,'UniProt Function',NULL,18558,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15573,'UniProt Function',NULL,18559,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15574,'UniProt Function',NULL,18560,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15575,'UniProt Function',NULL,18561,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15576,'UniProt Function',NULL,18562,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15577,'UniProt Function',NULL,18563,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15578,'UniProt Function',NULL,18564,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15579,'UniProt Function',NULL,18565,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15580,'UniProt Function',NULL,18566,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15581,'UniProt Function',NULL,18567,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15582,'UniProt Function',NULL,18568,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15583,'UniProt Function',NULL,18569,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15584,'UniProt Function',NULL,18570,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15585,'UniProt Function',NULL,18571,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15586,'UniProt Function',NULL,18572,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15587,'UniProt Function',NULL,18573,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15588,'UniProt Function',NULL,18574,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15589,'UniProt Function',NULL,18575,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15590,'UniProt Function',NULL,18576,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15591,'UniProt Function',NULL,18577,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15592,'UniProt Function',NULL,18578,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15593,'UniProt Function',NULL,18579,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15594,'UniProt Function',NULL,18580,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15595,'UniProt Function',NULL,18581,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15596,'UniProt Function',NULL,18582,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15597,'UniProt Function',NULL,18583,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15598,'UniProt Function',NULL,18584,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15599,'UniProt Function',NULL,18585,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15600,'UniProt Function',NULL,18586,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15601,'UniProt Function',NULL,18587,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15602,'UniProt Function',NULL,18588,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15603,'UniProt Function',NULL,18589,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15604,'UniProt Function',NULL,18590,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15605,'UniProt Function',NULL,18591,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15606,'UniProt Function',NULL,18592,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15607,'UniProt Function',NULL,18593,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15608,'UniProt Function',NULL,18594,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15609,'UniProt Function',NULL,18595,NULL,'Odorant receptor (Potential). May be involved in taste perception.',NULL,NULL,NULL,NULL,NULL),(15610,'UniProt Function',NULL,18596,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15611,'UniProt Function',NULL,18597,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15612,'UniProt Function',NULL,18598,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15613,'UniProt Function',NULL,18599,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15614,'UniProt Function',NULL,18600,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15615,'UniProt Function',NULL,18601,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15616,'UniProt Function',NULL,18602,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15617,'UniProt Function',NULL,18603,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15618,'UniProt Function',NULL,18604,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15619,'UniProt Function',NULL,18605,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15620,'UniProt Function',NULL,18606,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15621,'UniProt Function',NULL,18607,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15622,'UniProt Function',NULL,18608,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15623,'UniProt Function',NULL,18609,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15624,'UniProt Function',NULL,18610,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15625,'UniProt Function',NULL,18611,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15626,'UniProt Function',NULL,18612,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15627,'UniProt Function',NULL,18613,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15628,'UniProt Function',NULL,18614,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15629,'UniProt Function',NULL,18615,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15630,'UniProt Function',NULL,18616,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15631,'UniProt Function',NULL,18617,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15632,'UniProt Function',NULL,18618,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15633,'UniProt Function',NULL,18619,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15634,'UniProt Function',NULL,18620,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15635,'UniProt Function',NULL,18621,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15636,'UniProt Function',NULL,18622,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15637,'UniProt Function',NULL,18623,NULL,'Odorant receptor. Selectively activated by androstenone and the related odorous steroid androstadienone.',NULL,NULL,NULL,NULL,NULL),(15638,'UniProt Function',NULL,18624,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15639,'UniProt Function',NULL,18625,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15640,'UniProt Function',NULL,18626,NULL,'Odorant receptor (Potential). May be involved in taste perception.',NULL,NULL,NULL,NULL,NULL),(15641,'UniProt Function',NULL,18627,NULL,'Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. A broader role in the homeostatic regulation of energy metabolism, autonomic function, hormonal balance and the regulation of body fluids, is also suggested. Orexin-A binds to both OX1R and OX2R with a high affinity, whereas orexin-B binds only to OX2R with a similar high affinity.',NULL,NULL,NULL,NULL,NULL),(15642,'UniProt Function',NULL,18628,NULL,'Lectin which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation (ERAD). May bind terminally misfolded non-glycosylated proteins as well as improperly folded glycoproteins, retain them in the ER, and possibly transfer them to the ubiquitination machinery and promote their degradation. Possible targets include TRPV4.',NULL,NULL,NULL,NULL,NULL),(15643,'UniProt Function',NULL,18629,NULL,'Binds 7-ketocholesterol.',NULL,NULL,NULL,NULL,NULL),(15644,'UniProt Function',NULL,18630,NULL,'Probable lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane. Its ability to bind phosphatidylserine, suggests that it specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P (PubMed:23934110) (Probable). Plays a role in negative regulation of lipid biosynthesis (PubMed:19554302). Negatively regulates APOB secretion from hepatocytes (PubMed:19554302, PubMed:22906437). Binds cholesterol and acidic phospholipids (PubMed:22906437). Also binds 25-hydroxycholesterol (PubMed:17428193). Binds phosphatidylserine (PubMed:23934110).',NULL,NULL,NULL,NULL,NULL),(15645,'UniProt Function',NULL,18631,NULL,'Plays a role in regulating ADIPOQ and FABP4 levels in differentiating adipocytes and is also involved in regulation of adipocyte triglyceride storage (PubMed:23028956). Weakly binds 25-hydroxycholesterol (PubMed:17428193).',NULL,NULL,NULL,NULL,NULL),(15646,'UniProt Function',NULL,18632,NULL,'Associates with IL31RA to form the IL31 receptor. Binds IL31 to activate STAT3 and possibly STAT1 and STAT5. Capable of transducing OSM-specific signaling events.',NULL,NULL,NULL,NULL,NULL),(15647,'UniProt Function',NULL,18633,NULL,'Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial genome maintenance.',NULL,NULL,NULL,NULL,NULL),(15648,'UniProt Function',NULL,18634,NULL,'Phosphoinositide-binding protein which associates with both cell and endoplasmic reticulum (ER) membranes (PubMed:16143324). Can bind to the ER membrane protein VAPA and recruit VAPA to plasma membrane sites, thus linking these intracellular compartments (PubMed:25447204). The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface (PubMed:18270267, PubMed:25447204). With VAPA, may regulate ER morphology (PubMed:16143324). Has a role in regulation of the actin cytoskeleton, cell polarity and cell adhesion (PubMed:18270267). Binds to phosphoinositides with preference for PI(3,4)P2 and PI(3,4,5)P3 (PubMed:16143324). Also binds 25-hydroxycholesterol and cholesterol (PubMed:17428193).',NULL,NULL,NULL,NULL,NULL),(15649,'UniProt Function',NULL,18635,NULL,'Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:26206935). Binds oxysterol, 25-hydroxycholesterol and cholesterol (PubMed:17428193, PubMed:17991739, PubMed:21698267).',NULL,NULL,NULL,NULL,NULL),(15650,'UniProt Function',NULL,18636,NULL,'Receptor for the glycosphingolipid psychosine (PSY) and several related glycosphingolipids (PubMed:11309421). Plays a role in immune response by maintaining lysosome function and supporting phagocytosis-mediated intracellular bacteria clearance (PubMed:27287411). May have a role in activation-induced cell death or differentiation of T-cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(15651,'UniProt Function',NULL,18638,NULL,'Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction.',NULL,NULL,NULL,NULL,NULL),(15652,'UniProt Function',NULL,18638,NULL,'Acts as a cytokine involved in enhancing production of interferon-gamma and interleukin-12 and reducing production of interleukin-10 and is essential in the pathway that leads to type I immunity.',NULL,NULL,NULL,NULL,NULL),(15653,'UniProt Function',NULL,18640,NULL,'Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity).',NULL,NULL,NULL,NULL,NULL),(15654,'UniProt Function',NULL,18642,NULL,'Proton-selective channel that specifically transports protons into cells (PubMed:29371428). Proton channel activity is only weakly-sensitive to voltage (By similarity). Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes (PubMed:29371428). In the vestibular system of the inner ear, required for the formation and function of otoconia, which are calcium carbonate crystals that sense gravity and acceleration (By similarity). Probably acts by maintaining the pH appropriate for formation of otoconia (By similarity). Regulates purinergic control of intracellular calcium in vestibular supporting cells (By similarity). May be involved in sour taste perception in sour taste cells by mediating entry of protons within the cytosol (By similarity). Also involved in energy metabolism, by reducing adipose tissue inflammation and protecting from obesity-induced metabolic dysfunction (By similarity).',NULL,NULL,NULL,NULL,NULL),(15655,'UniProt Function',NULL,18643,NULL,'RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Plays a role in the regulation of cell proliferation, differentiation and migration. Positive regulator of EPO-dependent erythropoiesis. Participates in cell differentiation regulation by repressing tissue-specific exons. Promotes FAS exon 6 skipping. Binds RNA, preferentially to both poly(G) and poly(U).',NULL,NULL,NULL,NULL,NULL),(15656,'UniProt Function',NULL,18644,NULL,'May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).',NULL,NULL,NULL,NULL,NULL),(15657,'UniProt Function',NULL,18645,NULL,'Hydrolase that can specifically remove \'Lys-48\'-linked conjugated ubiquitin from proteins and plays an important regulatory role at the level of protein turnover by preventing degradation. Regulator of T-cell anergy, a phenomenon that occurs when T-cells are rendered unresponsive to antigen rechallenge and no longer respond to their cognate antigen. Acts via its interaction with RNF128/GRAIL, a crucial inductor of CD4 T-cell anergy. Isoform 1 destabilizes RNF128, leading to prevent anergy. In contrast, isoform 2 stabilizes RNF128 and promotes anergy. Surprisingly, it regulates RNF128-mediated ubiquitination, but does not deubiquitinate polyubiquitinated RNF128. Deubiquitinates estrogen receptor alpha (ESR1). Mediates deubiquitination of \'Lys-48\'-linked polyubiquitin chains, but not \'Lys-63\'-linked polyubiquitin chains. Not able to cleave di-ubiquitin. Also capable of removing NEDD8 from NEDD8 conjugates, but with a much lower preference compared to \'Lys-48\'-linked ubiquitin.',NULL,NULL,NULL,NULL,NULL),(15658,'UniProt Function',NULL,18645,NULL,'Plays a key non-catalytic role in DNA repair regulation by inhibiting activity of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of \'Lys-63\'-linked histone H2A and H2AX at DNA damage sites. Inhibits RNF168 independently of ubiquitin thioesterase activity by binding and inhibiting UBE2N/UBC13, the E2 partner of RNF168, thereby limiting spreading of \'Lys-63\'-linked histone H2A and H2AX marks. Inhibition occurs by binding to free ubiquitin: free ubiquitin acts as an allosteric regulator that increases affinity for UBE2N/UBC13 and disrupts interaction with UBE2V1. The OTUB1-UBE2N/UBC13-free ubiquitin complex adopts a configuration that mimics a cleaved \'Lys48\'-linked di-ubiquitin chain.',NULL,NULL,NULL,NULL,NULL),(15659,'UniProt Function',NULL,18647,NULL,'Deubiquitinating enzyme that hydrolyzes \'Lys-6\'- and \'Lys-11\'-linked polyubiquitin. Also hydrolyzes heterotypic (mixed and branched) and homotypic chains.',NULL,NULL,NULL,NULL,NULL),(15660,'UniProt Function',NULL,18648,NULL,'Putative transcription factor. Involved in hair formation and spermatogenesis. May function in the differentiation and/or maintenance of the urogenital system (By similarity).',NULL,NULL,NULL,NULL,NULL),(15661,'UniProt Function',NULL,18649,NULL,'Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome oxidase. Required for the correct biogenesis of ATP synthase and complex I in mitochondria.',NULL,NULL,NULL,NULL,NULL),(15662,'UniProt Function',NULL,18650,NULL,'Deubiquitinase that specifically removes linear (\'Met-1\'-linked) polyubiquitin chains to substrates and acts as a regulator of angiogenesis and innate immune response (PubMed:26997266, PubMed:23708998, PubMed:23746843, PubMed:23806334, PubMed:23827681, PubMed:27523608, PubMed:27559085, PubMed:24726323, PubMed:24726327, PubMed:28919039). Required during angiogenesis, craniofacial and neuronal development by regulating the canonical Wnt signaling together with the LUBAC complex (PubMed:23708998). Acts as a negative regulator of NF-kappa-B by regulating the activity of the LUBAC complex (PubMed:23746843, PubMed:23806334). OTULIN function is mainly restricted to homeostasis of the LUBAC complex: acts by removing \'Met-1\'-linked autoubiquitination of the LUBAC complex, thereby preventing inactivation of the LUBAC complex (PubMed:26670046). Acts as a key negative regulator of inflammation by restricting spontaneous inflammation and maintaining immune homeostasis (PubMed:27523608). In myeloid cell, required to prevent unwarranted secretion of cytokines leading to inflammation and autoimmunity by restricting linear polyubiquitin formation (PubMed:27523608). Plays a role in innate immune response by restricting linear polyubiquitin formation on LUBAC complex in response to NOD2 stimulation, probably to limit NOD2-dependent proinflammatory signaling (PubMed:23806334).',NULL,NULL,NULL,NULL,NULL),(15663,'UniProt Function',NULL,18652,NULL,'Phosphorylates RELL1, RELL2 and RELT (PubMed:16389068, PubMed:28688764). Phosphorylates PAK1 (PubMed:14707132). Phosphorylates PLSCR1 in the presence of RELT (PubMed:22052202).',NULL,NULL,NULL,NULL,NULL),(15664,'UniProt Function',NULL,18653,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346). Combines RNA-binding and PPIase activities (PubMed:8977107, PubMed:18258190, PubMed:20677832, PubMed:20460131). Binds mRNA and has a preference for single-stranded RNA molecules with poly-A and poly-U stretches, suggesting it binds to the poly(A)-region in the 3\'-UTR of mRNA molecules (PubMed:8977107, PubMed:18258190, PubMed:20460131). Catalyzes the cis-trans isomerization of proline imidic peptide bonds in proteins (PubMed:8977107, PubMed:18258190, PubMed:20677832, PubMed:20541251). Inhibits KMT2A activity; this requires proline isomerase activity (PubMed:20677832, PubMed:20541251, PubMed:20460131).',NULL,NULL,NULL,NULL,NULL),(15665,'UniProt Function',NULL,18654,NULL,'PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). May be implicated in the folding, transport, and assembly of proteins. May play an important role in the regulation of pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(15666,'UniProt Function',NULL,18655,NULL,'Specific down-regulator of the NEDD8 conjugation system. Recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. Isoform 1 promotes the degradation of NEDD8 more efficiently than isoform 2.',NULL,NULL,NULL,NULL,NULL),(15667,'UniProt Function',NULL,18656,NULL,'Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate) and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. InsP6 (inositol hexakisphophate) is not a substrate. Acts as a negative regulator of the ERK1/2 pathway. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate.',NULL,NULL,NULL,NULL,NULL),(15668,'UniProt Function',NULL,18657,NULL,'Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the onset of embryonic neurogenesis. Also required postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity. Negative regulator of NF-kappa-B signaling pathway. The inhibition of NF-kappa-B activation is mediated at least in part, by preventing MAP3K7IP2 to interact with polyubiquitin chains of TRAF6 and RIPK1 and by stimulating the \'Lys-48\'-linked polyubiquitination and degradation of TRAF6 in cortical neurons.',NULL,NULL,NULL,NULL,NULL),(15669,'UniProt Function',NULL,18659,NULL,'Receptor for alpha-ketoglutarate. Seems to act exclusively through a G(q)-mediated pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(15670,'UniProt Function',NULL,18660,NULL,'Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5\'-TCTAATCCC-3\'.',NULL,NULL,NULL,NULL,NULL),(15671,'UniProt Function',NULL,18661,NULL,'May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function.',NULL,NULL,NULL,NULL,NULL),(15672,'UniProt Function',NULL,18662,NULL,'Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation (By similarity).',NULL,NULL,NULL,NULL,NULL),(15673,'UniProt Function',NULL,18663,NULL,'May be involved in protection from oxidative damage.',NULL,NULL,NULL,NULL,NULL),(15674,'UniProt Function',NULL,18664,NULL,'Receptor for oxytocin. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(15675,'UniProt Function',NULL,18665,NULL,'Putative component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(15676,'UniProt Function',NULL,18668,NULL,'Bidirectional N-fatty-acyl amino acid synthase/hydrolase that regulates the production of N-fatty-acyl amino acids. These metabolites are endogenous chemical uncouplers of mitochondrial respiration. In an UCP1-independent manner, maybe through interaction with mitochondrial transporters, they promote proton leakage into the mitochondrial matrix. Thereby, this secreted protein may indirectly regulate the bodily dissipation of chemical energy as heat through thermogenic respiration.',NULL,NULL,NULL,NULL,NULL),(15677,'UniProt Function',NULL,18672,NULL,'Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5\'-CANNTG-3\'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an important role in cerebellar development. Directly regulated by FOXN4 and RORC during retinal development, FOXN4-PTF1A pathway plays a central role in directing the differentiation of retinal progenitors towards horizontal and amacrine fates.',NULL,NULL,NULL,NULL,NULL),(15678,'UniProt Function',NULL,18673,NULL,'Putative receptor for purines coupled to G-proteins.',NULL,NULL,NULL,NULL,NULL),(15679,'UniProt Function',NULL,18674,NULL,'Receptor for ATP and ADP coupled to G-proteins that activate both phosphatidylinositol-calcium and adenylyl cyclase second messenger systems. Not activated by UTP or UDP.',NULL,NULL,NULL,NULL,NULL),(15680,'UniProt Function',NULL,18675,NULL,'Receptor for ADP. Coupled to G(i)-proteins. May play a role in hematopoiesis and the immune system.',NULL,NULL,NULL,NULL,NULL),(15681,'UniProt Function',NULL,18676,NULL,'Receptor for UDP-glucose and other UDP-sugar coupled to G-proteins. Not activated by ATP, ADP, UTP or ATP.',NULL,NULL,NULL,NULL,NULL),(15682,'UniProt Function',NULL,18677,NULL,'Receptor for UTP and UDP coupled to G-proteins that activate a phosphatidylinositol-calcium second messenger system. Not activated by ATP or ADP.',NULL,NULL,NULL,NULL,NULL),(15683,'UniProt Function',NULL,18678,NULL,'Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Indirectly regulates autophagy (PubMed:23604317). Promotes nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (By similarity).',NULL,NULL,NULL,NULL,NULL),(15684,'UniProt Function',NULL,18679,NULL,'Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position (PubMed:14709560). May have a substrate specificity for linoleic acid at the sn-2 position (PubMed:14709560).',NULL,NULL,NULL,NULL,NULL),(15685,'UniProt Function',NULL,18680,NULL,'Catalyzes the deimination of arginine residues of proteins.',NULL,NULL,NULL,NULL,NULL),(15686,'UniProt Function',NULL,18681,NULL,'Catalyzes the deimination of arginine residues of proteins.',NULL,NULL,NULL,NULL,NULL),(15687,'UniProt Function',NULL,18682,NULL,'Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication, including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptotic inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death. May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinct subcellular compartments.',NULL,NULL,NULL,NULL,NULL),(15688,'UniProt Function',NULL,18683,NULL,'Involved in the 3\'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length (By similarity). Increases the affinity of poly(A) polymerase for RNA (By similarity). Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription through MYOD1 and may regulate the expression of muscle-specific genes (PubMed:11371506). Binds to poly(A) and to poly(G) with high affinity (By similarity). May protect the poly(A) tail from degradation (By similarity). Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484).',NULL,NULL,NULL,NULL,NULL),(15689,'UniProt Function',NULL,18684,NULL,'Modulates the action of platelet-activating factor (PAF) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-PAF. Has a specificity for substrates with a short residue at the sn-2 position. It is inactive against long-chain phospholipids.',NULL,NULL,NULL,NULL,NULL),(15690,'UniProt Function',NULL,18686,NULL,'Plays a role in neurogenesis and neuronal migration (By similarity). Necessary for correct formation of mitotic spindles and chromosome separation during mitosis. Necessary for cytokinesis and cell proliferation.',NULL,NULL,NULL,NULL,NULL),(15691,'UniProt Function',NULL,18687,NULL,'Coenzyme A diphosphatase which mediates the cleavage of CoA, CoA esters and oxidized CoA with similar efficiencies, yielding 3\',5\'-ADP and the corresponding 4\'-phosphopantetheine derivative as products. CoA into 3\',5\'-ADP and 4\'-phosphopantetheine. Has no activity toward NDP-sugars, CDP-alcohols, (deoxy)nucleoside 5\'-triphosphates, nucleoside 5\'-di or monophosphates, diadenosine polyphosphates, NAD, NADH, NADP, NADPH or thymidine-5\'-monophospho-p-nitrophenyl ester. May be required to eliminate oxidized CoA from peroxisomes, or regulate CoA and acyl-CoA levels in this organelle in response to metabolic demand. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(15692,'UniProt Function',NULL,18688,NULL,'Odorant receptor (Potential). May be involved in taste perception.',NULL,NULL,NULL,NULL,NULL),(15693,'UniProt Function',NULL,18689,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15694,'UniProt Function',NULL,18690,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15695,'UniProt Function',NULL,18691,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15696,'UniProt Function',NULL,18692,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15697,'UniProt Function',NULL,18693,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15698,'UniProt Function',NULL,18694,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15699,'UniProt Function',NULL,18695,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15700,'UniProt Function',NULL,18696,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15701,'UniProt Function',NULL,18697,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15702,'UniProt Function',NULL,18698,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15703,'UniProt Function',NULL,18699,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15704,'UniProt Function',NULL,18703,NULL,'May act as a modulator of the olfactory signal-transduction cascade.',NULL,NULL,NULL,NULL,NULL),(15705,'UniProt Function',NULL,18704,NULL,'Has some calmodulin-like activity with respect to enzyme activation and growth regulation. Binds two calcium ions.',NULL,NULL,NULL,NULL,NULL),(15706,'UniProt Function',NULL,18705,NULL,'Transcriptional activator. Activates the transcription of a number of liver genes such as HNF3B.',NULL,NULL,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (15707,'UniProt Function',NULL,18707,NULL,'Component of the spermatoproteasome, a form of the proteasome specifically found in testis that promotes degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis. The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH (By similarity).',NULL,NULL,NULL,NULL,NULL),(15708,'UniProt Function',NULL,18708,NULL,'Binds opioids in the presence of acidic lipids; probably involved in cell contact.',NULL,NULL,NULL,NULL,NULL),(15709,'UniProt Function',NULL,18709,NULL,'Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). During the base subcomplex assembly is part of an intermediate PSMD9:PSMC6:PSMC3 module, also known as modulator trimer complex; PSMD9 is released during the further base assembly process.',NULL,NULL,NULL,NULL,NULL),(15710,'UniProt Function',NULL,18710,NULL,'Implicated in immunoproteasome assembly and required for efficient antigen processing. The PA28 activator complex enhances the generation of class I binding peptides by altering the cleavage pattern of the proteasome.',NULL,NULL,NULL,NULL,NULL),(15711,'UniProt Function',NULL,18711,NULL,'Implicated in immunoproteasome assembly and required for efficient antigen processing. The PA28 activator complex enhances the generation of class I binding peptides by altering the cleavage pattern of the proteasome.',NULL,NULL,NULL,NULL,NULL),(15712,'UniProt Function',NULL,18712,NULL,'Subunit of the 11S REG-gamma (also called PA28-gamma) proteasome regulator, a doughnut-shaped homoheptamer which associates with the proteasome. 11S REG-gamma activates the trypsin-like catalytic subunit of the proteasome but inhibits the chymotrypsin-like and postglutamyl-preferring (PGPH) subunits. Facilitates the MDM2-p53/TP53 interaction which promotes ubiquitination- and MDM2-dependent proteasomal degradation of p53/TP53, limiting its accumulation and resulting in inhibited apoptosis after DNA damage. May also be involved in cell cycle regulation. Mediates CCAR2 and CHEK2-dependent SIRT1 inhibition (PubMed:25361978).',NULL,NULL,NULL,NULL,NULL),(15713,'UniProt Function',NULL,18713,NULL,'Associated component of the proteasome that specifically recognizes acetylated histones and promotes ATP- and ubiquitin-independent degradation of core histones during spermatogenesis and DNA damage response. Recognizes and binds acetylated histones via its bromodomain-like (BRDL) region and activates the proteasome by opening the gated channel for substrate entry. Binds to the core proteasome via its C-terminus, which occupies the same binding sites as the proteasomal ATPases, opening the closed structure of the proteasome via an active gating mechanism. Component of the spermatoproteasome, a form of the proteasome specifically found in testis: binds to acetylated histones and promotes degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis. Also involved in DNA damage response in somatic cells, by promoting degradation of histones following DNA double-strand breaks.',NULL,NULL,NULL,NULL,NULL),(15714,'UniProt Function',NULL,18714,NULL,'Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28.',NULL,NULL,NULL,NULL,NULL),(15715,'UniProt Function',NULL,18715,NULL,'Chaperone protein which promotes assembly of the 20S proteasome.',NULL,NULL,NULL,NULL,NULL),(15716,'UniProt Function',NULL,18716,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15717,'UniProt Function',NULL,18717,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15718,'UniProt Function',NULL,18718,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15719,'UniProt Function',NULL,18719,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15720,'UniProt Function',NULL,18720,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15721,'UniProt Function',NULL,18721,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15722,'UniProt Function',NULL,18722,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15723,'UniProt Function',NULL,18723,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15724,'UniProt Function',NULL,18724,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15725,'UniProt Function',NULL,18725,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15726,'UniProt Function',NULL,18726,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15727,'UniProt Function',NULL,18727,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15728,'UniProt Function',NULL,18728,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15729,'UniProt Function',NULL,18729,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15730,'UniProt Function',NULL,18730,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15731,'UniProt Function',NULL,18731,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15732,'UniProt Function',NULL,18732,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15733,'UniProt Function',NULL,18733,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15734,'UniProt Function',NULL,18734,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15735,'UniProt Function',NULL,18735,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15736,'UniProt Function',NULL,18736,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15737,'UniProt Function',NULL,18737,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15738,'UniProt Function',NULL,18738,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15739,'UniProt Function',NULL,18739,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15740,'UniProt Function',NULL,18740,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15741,'UniProt Function',NULL,18741,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15742,'UniProt Function',NULL,18742,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15743,'UniProt Function',NULL,18743,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15744,'UniProt Function',NULL,18744,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15745,'UniProt Function',NULL,18745,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15746,'UniProt Function',NULL,18746,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15747,'UniProt Function',NULL,18747,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15748,'UniProt Function',NULL,18748,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15749,'UniProt Function',NULL,18749,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15750,'UniProt Function',NULL,18750,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15751,'UniProt Function',NULL,18751,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15752,'UniProt Function',NULL,18752,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15753,'UniProt Function',NULL,18753,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15754,'UniProt Function',NULL,18754,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15755,'UniProt Function',NULL,18755,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15756,'UniProt Function',NULL,18756,NULL,'Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K20me3 and H4K27me3. Stabilizes LRWD1, by protecting it from ubiquitin-mediated proteasomal degradation. Also stabilizes ORC3.',NULL,NULL,NULL,NULL,NULL),(15757,'UniProt Function',NULL,18757,NULL,'Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3.',NULL,NULL,NULL,NULL,NULL),(15758,'UniProt Function',NULL,18758,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15759,'UniProt Function',NULL,18759,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15760,'UniProt Function',NULL,18760,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15761,'UniProt Function',NULL,18761,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15762,'UniProt Function',NULL,18764,NULL,'Possesses 3\'-5\' exoribonuclease activity. Required for 3\'-end trimming of AGO1-bound miRNAs (By similarity).',NULL,NULL,NULL,NULL,NULL),(15763,'UniProt Function',NULL,18766,NULL,'In kidney, has anti-inflammatory and anti-fibrotic properties by limiting the induction of chemokines, fibronectin and collagen expression in response to TGB1 and pro-inflammatory stimuli.',NULL,NULL,NULL,NULL,NULL),(15764,'UniProt Function',NULL,18768,NULL,'Transcription factor that specifically recognizes the sequence 5\'-YAAC[GT]G-3\' (PubMed:8058310, PubMed:7987850). Acts as a master regulator of male meiosis by promoting expression of piRNAs: activates expression of both piRNA precursor RNAs and expression of protein-coding genes involved in piRNA metabolism (By similarity). The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity (By similarity).',NULL,NULL,NULL,NULL,NULL),(15765,'UniProt Function',NULL,18769,NULL,'May regulate certain MYC target genes, MYC seems to be a direct upstream transcriptional activator. Does not seem to significantly affect growth cell capacity. Overexpression seems to mediate many of the known phenotypic features associated with MYC, including promotion of apoptosis, alteration of morphology, enhancement of anchorage-independent growth, tumorigenic conversion, promotion of genomic instability, and inhibition of hematopoietic differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(15766,'UniProt Function',NULL,18770,NULL,'Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5\'-[CT]TAAT[TG]-3\'. During development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell.',NULL,NULL,NULL,NULL,NULL),(15767,'UniProt Function',NULL,18771,NULL,'Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N-terminus of a myosin light chain.',NULL,NULL,NULL,NULL,NULL),(15768,'UniProt Function',NULL,18772,NULL,'Muscle contraction. Required for cytoskeleton organization (By similarity).',NULL,NULL,NULL,NULL,NULL),(15769,'UniProt Function',NULL,18773,NULL,'Regulatory light chain of myosin. Does not bind calcium.',NULL,NULL,NULL,NULL,NULL),(15770,'UniProt Function',NULL,18774,NULL,'Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity).',NULL,NULL,NULL,NULL,NULL),(15771,'UniProt Function',NULL,18775,NULL,'Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity).',NULL,NULL,NULL,NULL,NULL),(15772,'UniProt Function',NULL,18776,NULL,'Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho by stimulating it\'s GTPase activity in neurons, has a role in the regulation of neuronal morphology and function.',NULL,NULL,NULL,NULL,NULL),(15773,'UniProt Function',NULL,18777,NULL,'Transcriptional repressor; DNA-binding protein that specifically recognizes the core sequence 5\'-YAAC[GT]G-3\'. Dimerization with PFN1 reduces its DNA-binding capacity (By similarity).',NULL,NULL,NULL,NULL,NULL),(15774,'UniProt Function',NULL,18778,NULL,'Has 5\'-polynucleotide kinase and nicking endonuclease activity. May play a role in DNA repair or recombination.',NULL,NULL,NULL,NULL,NULL),(15775,'UniProt Function',NULL,18779,NULL,'Binds to target promoter DNA and functions as transcription regulator. Regulates transcription from the PADI1 and CDH2 promoter. May be one regulator of transcriptional events during hemopoietic development.',NULL,NULL,NULL,NULL,NULL),(15776,'UniProt Function',NULL,18780,NULL,'Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.',NULL,NULL,NULL,NULL,NULL),(15777,'UniProt Function',NULL,18783,NULL,'Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5\'-CCAAT-3\' box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors.',NULL,NULL,NULL,NULL,NULL),(15778,'UniProt Function',NULL,18784,NULL,'Neurophysin 2 specifically binds vasopressin.',NULL,NULL,NULL,NULL,NULL),(15779,'UniProt Function',NULL,18784,NULL,'Vasopressin has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the peripheral vessels. Acts by binding to vasopressin receptors (V1bR/AVPR1B, V1aR/AVPR1A, and V2R/AVPR2) (PubMed:18174156).',NULL,NULL,NULL,NULL,NULL),(15780,'UniProt Function',NULL,18785,NULL,'Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Isoform 3 binds to the X-box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination.',NULL,NULL,NULL,NULL,NULL),(15781,'UniProt Function',NULL,18786,NULL,'Hydrolyzes oligopeptides such as neurotensin, bradykinin and dynorphin A.',NULL,NULL,NULL,NULL,NULL),(15782,'UniProt Function',NULL,18787,NULL,'Functions as part of the SSP (stage selector protein) complex, a complex that contributes to the preferential expression of the gamma-gene in fetal erythroid cells by facilitating the interaction of the gamma-globin genes with enhancer elements contained in the locus control region (LCR). The complex binds to the stage selector element (SSE) in the proximal gamma-globin promoter. In contrast, isoform 2 acts as a repressor of gamma-globin gene expression by preventing NFE2 and RNA polymerase II recruitment to the promoter.',NULL,NULL,NULL,NULL,NULL),(15783,'UniProt Function',NULL,18788,NULL,'Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins.',NULL,NULL,NULL,NULL,NULL),(15784,'UniProt Function',NULL,18789,NULL,'A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resistance through its interaction with ABCC2 and PDZK1IP1. May potentiate the CFTR chloride channel activity. Required for normal cell-surface expression of SCARB1. Plays a role in maintaining normal plasma cholesterol levels via its effects on SCARB1. Plays a role in the normal localization and function of the chloride-anion exchanger SLC26A6 to the plasma membrane in the brush border of the proximal tubule of the kidney. May be involved in the regulation of proximal tubular Na(+)-dependent inorganic phosphate cotransport therefore playing an important role in tubule function (By similarity).',NULL,NULL,NULL,NULL,NULL),(15785,'UniProt Function',NULL,18790,NULL,'Receptor for neuromedin-B.',NULL,NULL,NULL,NULL,NULL),(15786,'UniProt Function',NULL,18791,NULL,'Receptor for the neuromedin-U and neuromedin-S neuropeptides.',NULL,NULL,NULL,NULL,NULL),(15787,'UniProt Function',NULL,18792,NULL,'NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine. May play a role in the development of dendritic spines. May play a role in PPP2CB-NMDAR mediated signaling mechanism (By similarity).',NULL,NULL,NULL,NULL,NULL),(15788,'UniProt Function',NULL,18793,NULL,'Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:7685113, PubMed:28126851, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:26919761).',NULL,NULL,NULL,NULL,NULL),(15789,'UniProt Function',NULL,18794,NULL,'Involved in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages (PubMed:18511561). Component of an autophagy-mediated antibacterial pathway together with ATG16L1 (PubMed:20637199). Plays also a role in sensing single-stranded RNA (ssRNA) from viruses. Interacts with mitochondrial antiviral signaling/MAVS, leading to activation of interferon regulatory factor-3/IRF3 and expression of type I interferon (PubMed:19701189).',NULL,NULL,NULL,NULL,NULL),(15790,'UniProt Function',NULL,18795,NULL,'Implicated in the regulation of circadian rhythms through autocrine and/or paracrine actions.',NULL,NULL,NULL,NULL,NULL),(15791,'UniProt Function',NULL,18796,NULL,'Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins.',NULL,NULL,NULL,NULL,NULL),(15792,'UniProt Function',NULL,18799,NULL,'May antagonize Nodal signaling.',NULL,NULL,NULL,NULL,NULL),(15793,'UniProt Function',NULL,18801,NULL,'Multivalent adapter protein which may decrease NOS3 activity by inducing its translocation away from the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(15794,'UniProt Function',NULL,18802,NULL,'Carboxylesterase that acts as a key negative regulator of the Wnt signaling pathway by specifically mediating depalmitoleoylation of WNT proteins. Serine palmitoleoylation of WNT proteins is required for efficient binding to frizzled receptors (PubMed:25731175).',NULL,NULL,NULL,NULL,NULL),(15795,'UniProt Function',NULL,18803,NULL,'Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body (PubMed:7531687, PubMed:7544004). In macrophages, NO mediates tumoricidal and bactericidal actions. Also has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such PTGS2/COX2 (By similarity). As component of the iNOS-S100A8/9 transnitrosylase complex involved in the selective inflammatory stimulus-dependent S-nitrosylation of GAPDH on \'Cys-247\' implicated in regulation of the GAIT complex activity and probably multiple targets including ANXA5, EZR, MSN and VIM (PubMed:25417112). Involved in inflammation, enhances the synthesis of proinflammatory mediators such as IL6 and IL8 (PubMed:19688109).',NULL,NULL,NULL,NULL,NULL),(15796,'UniProt Function',NULL,18805,NULL,'Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots \'circa\' (about) and \'diem\' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for \'timegivers\'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5\'-CACGTG-3\') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. The NPAS2-ARNTL/BMAL1 heterodimer positively regulates the expression of MAOA, F7 and LDHA and modulates the circadian rhythm of daytime contrast sensitivity by regulating the rhythmic expression of adenylate cyclase type 1 (ADCY1) in the retina. NPAS2 plays an important role in sleep homeostasis and in maintaining circadian behaviors in normal light/dark and feeding conditions and in the effective synchronization of feeding behavior with scheduled food availability. Regulates the gene transcription of key metabolic pathways in the liver and is involved in DNA damage response by regulating several cell cycle and DNA repair genes.',NULL,NULL,NULL,NULL,NULL),(15797,'UniProt Function',NULL,18813,NULL,'Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. May dephosphorylate CSNK1D and CSNK1E. Dephosphorylates the \'Ser-418\' residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208).',NULL,NULL,NULL,NULL,NULL),(15798,'UniProt Function',NULL,18815,NULL,'Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Dephosphorylates RPS6KB1. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin dependent protein kinase II. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. May dephosphorylate CSNK1D and CSNK1E. Dephosphorylates the \'Ser-418\' residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208).',NULL,NULL,NULL,NULL,NULL),(15799,'UniProt Function',NULL,18816,NULL,'Regulatory subunit of protein phosphatase 1.',NULL,NULL,NULL,NULL,NULL),(15800,'UniProt Function',NULL,18817,NULL,'Inhibitor subunit of the major nuclear protein phosphatase-1 (PP-1). It has RNA-binding activity but does not cleave RNA and may target PP-1 to RNA-associated substrates. May also be involved in pre-mRNA splicing. Binds DNA and might act as a transcriptional repressor. Seems to be required for cell proliferation.',NULL,NULL,NULL,NULL,NULL),(15801,'UniProt Function',NULL,18817,NULL,'Isoform Gamma is a site-specific single-strand endoribonuclease that cleaves single strand RNA 3\' to purines and pyrimidines in A+U-rich regions. It generates 5\'-phosphate termini at the site of cleavage. This isoform does not inhibit PP-1. May be implicated in mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(15802,'UniProt Function',NULL,18818,NULL,'Target-derived survival factor for peripheral sensory sympathetic neurons.',NULL,NULL,NULL,NULL,NULL),(15803,'UniProt Function',NULL,18819,NULL,'Mediates the import of GDP-bound RAN from the cytoplasm into the nucleus which is essential for the function of RAN in cargo receptor-mediated nucleocytoplasmic transport. Thereby, plays indirectly a more general role in cargo receptor-mediated nucleocytoplasmic transport. Interacts with GDP-bound RAN in the cytosol, recruits it to the nuclear pore complex via its interaction with nucleoporins and promotes its nuclear import.',NULL,NULL,NULL,NULL,NULL),(15804,'UniProt Function',NULL,18820,NULL,'G-protein coupled receptor for the tridecapeptide neurotensin (NTS) (PubMed:8381365, PubMed:21725197, PubMed:23140271). Signaling is effected via G proteins that activate a phosphatidylinositol-calcium second messenger system. Signaling leads to the activation of downstream MAP kinases and protects cells against apoptosis (PubMed:21725197).',NULL,NULL,NULL,NULL,NULL),(15805,'UniProt Function',NULL,18821,NULL,'PP2A is the major phosphatase for microtubule-associated proteins (MAPs). PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Cooperates with SGO2 to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I (By similarity). Can dephosphorylate SV40 large T antigen and p53/TP53. Activates RAF1 by dephosphorylating it at \'Ser-259\'.',NULL,NULL,NULL,NULL,NULL),(15806,'UniProt Function',NULL,18822,NULL,'Receptor tyrosine kinase involved in the development and the maturation of the central and the peripheral nervous systems through regulation of neuron survival, proliferation, migration, differentiation, and synapse formation and plasticity. Receptor for BDNF/brain-derived neurotrophic factor and NTF4/neurotrophin-4. Alternatively can also bind NTF3/neurotrophin-3 which is less efficient in activating the receptor but regulates neuron survival through NTRK2. Upon ligand-binding, undergoes homodimerization, autophosphorylation and activation. Recruits, phosphorylates and/or activates several downstream effectors including SHC1, FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlapping signaling cascades. Through SHC1, FRS2, SH2B1, SH2B2 activates the GRB2-Ras-MAPK cascade that regulates for instance neuronal differentiation including neurite outgrowth. Through the same effectors controls the Ras-PI3 kinase-AKT1 signaling cascade that mainly regulates growth and survival. Through PLCG1 and the downstream protein kinase C-regulated pathways controls synaptic plasticity. Thereby, plays a role in learning and memory by regulating both short term synaptic function and long-term potentiation. PLCG1 also leads to NF-Kappa-B activation and the transcription of genes involved in cell survival. Hence, it is able to suppress anoikis, the apoptosis resulting from loss of cell-matrix interactions. May also play a role in neutrophin-dependent calcium signaling in glial cells and mediate communication between neurons and glia.',NULL,NULL,NULL,NULL,NULL),(15807,'UniProt Function',NULL,18823,NULL,'Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283). Required for the assembly of peripheral proteins into the NPC (PubMed:15229283, PubMed:12552102). May anchor NUP62 to the NPC (PubMed:15229283).',NULL,NULL,NULL,NULL,NULL),(15808,'UniProt Function',NULL,18824,NULL,'Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals (PubMed:19154138, PubMed:26794871). Dephosphorylates and activates transcription factor NFATC1 (PubMed:19154138). Dephosphorylates and inactivates transcription factor ELK1 (PubMed:19154138). Dephosphorylates DARPP32 (PubMed:19154138).',NULL,NULL,NULL,NULL,NULL),(15809,'UniProt Function',NULL,18825,NULL,'Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals. Dephosphorylates and activates transcription factor NFATC1. Dephosphorylates and inactivates transcription factor ELK1. Dephosphorylates DARPP32.',NULL,NULL,NULL,NULL,NULL),(15810,'UniProt Function',NULL,18826,NULL,'Involved in poly(A)+ RNA transport.',NULL,NULL,NULL,NULL,NULL),(15811,'UniProt Function',NULL,18827,NULL,'Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport.',NULL,NULL,NULL,NULL,NULL),(15812,'UniProt Function',NULL,18828,NULL,'Protein phosphatase that is involved in many processes such as microtubule organization at centrosomes, maturation of spliceosomal snRNPs, apoptosis, DNA repair, tumor necrosis factor (TNF)-alpha signaling, activation of c-Jun N-terminal kinase MAPK8, regulation of histone acetylation, DNA damage checkpoint signaling, NF-kappa-B activation and cell migration. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on Ser-140 (gamma-H2AFX) generated during DNA replication and required for DNA double strand break repair. Dephosphorylates NDEL1 at CDK1 phosphorylation sites and negatively regulates CDK1 activity in interphase (By similarity). In response to DNA damage, catalyzes RPA2 dephosphorylation, an essential step for DNA repair since it allows the efficient RPA2-mediated recruitment of RAD51 to chromatin.',NULL,NULL,NULL,NULL,NULL),(15813,'UniProt Function',NULL,18829,NULL,'Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate. Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate.',NULL,NULL,NULL,NULL,NULL),(15814,'UniProt Function',NULL,18830,NULL,'Regulatory subunit of serine/threonine-protein phosphatase 4. May play a role in regulation of cell division in renal glomeruli. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3.',NULL,NULL,NULL,NULL,NULL),(15815,'UniProt Function',NULL,18831,NULL,'Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers. Its interaction with the SMN complex leads to enhance the temporal localization of snRNPs, suggesting a role of PPP4C in maturation of spliceosomal snRNPs. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on \'Ser-140\' (gamma-H2AFX) generated during DNA replication and required for DNA double strand break repair. Mediates RPA2 dephosphorylation by recruiting PPP4C to RPA2 in a DNA damage-dependent manner. RPA2 dephosphorylation is required for the efficient RPA2-mediated recruitment of RAD51 to chromatin following double strand breaks, an essential step for DNA repair.',NULL,NULL,NULL,NULL,NULL),(15816,'UniProt Function',NULL,18832,NULL,'Putative regulatory subunit of serine/threonine-protein phosphatase 4.',NULL,NULL,NULL,NULL,NULL),(15817,'UniProt Function',NULL,18833,NULL,'May be a regulatory subunit of serine/threonine-protein phosphatase 4.',NULL,NULL,NULL,NULL,NULL),(15818,'UniProt Function',NULL,18835,NULL,'Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha.',NULL,NULL,NULL,NULL,NULL),(15819,'UniProt Function',NULL,18836,NULL,'Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha.',NULL,NULL,NULL,NULL,NULL),(15820,'UniProt Function',NULL,18837,NULL,'Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. May have an important role in maintaining immune self-tolerance.',NULL,NULL,NULL,NULL,NULL),(15821,'UniProt Function',NULL,18838,NULL,'Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias.',NULL,NULL,NULL,NULL,NULL),(15822,'UniProt Function',NULL,18839,NULL,'Hydrolyzes lysophosphatidic acid (LPA) containing a medium length fatty acid chain to the corresponding monoacylglycerol. Has highest activity with lysophosphatidic acid containing myristate (C14:0), monounsaturated oleate (C18:1) or palmitate (C16:0), and lower activity with C18:0 and C6:0 lysophosphatidic acid.',NULL,NULL,NULL,NULL,NULL),(15823,'UniProt Function',NULL,18840,NULL,'Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates. Isoform 3 does not possess phosphatase activity.',NULL,NULL,NULL,NULL,NULL),(15824,'UniProt Function',NULL,18842,NULL,'May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex.',NULL,NULL,NULL,NULL,NULL),(15825,'UniProt Function',NULL,18843,NULL,'A non-specific tyrosine phosphatase that dephosphorylates a diverse number of substrates under acidic conditions (pH 4-6) including alkyl, aryl, and acyl orthophosphate monoesters and phosphorylated proteins. Has lipid phosphatase activity and inactivates lysophosphatidic acid in seminal plasma.',NULL,NULL,NULL,NULL,NULL),(15826,'UniProt Function',NULL,18843,NULL,'Isoform 2: the cellular form also has ecto-5\'-nucleotidase activity in dorsal root ganglion (DRG) neurons. Generates adenosine from AMP which acts as a pain suppressor. Acts as a tumor suppressor of prostate cancer through dephosphorylation of ERBB2 and deactivation of MAPK-mediated signaling.',NULL,NULL,NULL,NULL,NULL),(15827,'UniProt Function',NULL,18844,NULL,'Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl-2-oleoyl-sn-glycerol-3-phosphocholine (16:0/18:1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regulates satiety. Receptor for peroxisome proliferators such as hypolipidemic drugs and fatty acids. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the ACOX1 and P450 genes. Transactivation activity requires heterodimerization with RXRA and is antagonized by NR2C2. May be required for the propagation of clock information to metabolic pathways regulated by PER2.',NULL,NULL,NULL,NULL,NULL),(15828,'UniProt Function',NULL,18845,NULL,'Ligand-activated transcription factor. Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Has a preference for poly-unsaturated fatty acids, such as gamma-linoleic acid and eicosapentanoic acid. Once activated by a ligand, the receptor binds to promoter elements of target genes. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the acyl-CoA oxidase gene. Decreases expression of NPC1L1 once activated by a ligand.',NULL,NULL,NULL,NULL,NULL),(15829,'UniProt Function',NULL,18846,NULL,'Cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long.',NULL,NULL,NULL,NULL,NULL),(15830,'UniProt Function',NULL,18847,NULL,'Hydrolyzes UDP-glucose to glucose 1-phosphate and UMP and UDP-galactose to galactose 1-phosphate and UMP. Preferred substrate is UDP-glucose.',NULL,NULL,NULL,NULL,NULL),(15831,'UniProt Function',NULL,18848,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).',NULL,NULL,NULL,NULL,NULL),(15832,'UniProt Function',NULL,18849,NULL,'Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine morphogenesis. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension (By similarity).',NULL,NULL,NULL,NULL,NULL),(15833,'UniProt Function',NULL,18852,NULL,'May regulate RNA splicing or metabolism in a specific subset of developing neurons.',NULL,NULL,NULL,NULL,NULL),(15834,'UniProt Function',NULL,18855,NULL,'May play a broad role in neurogenesis. May control regulatory pathways relevant to schizophrenia and to psychotic illness (By similarity).',NULL,NULL,NULL,NULL,NULL),(15835,'UniProt Function',NULL,18858,NULL,'May be involved in the regulation of feeding, neuroendocrine system, memory, learning and in the afferent pain pathway.',NULL,NULL,NULL,NULL,NULL),(15836,'UniProt Function',NULL,18861,NULL,'Core histones chaperone involved in chromatin reprogramming, specially during fertilization and early embryonic development. Probably involved in sperm DNA decondensation during fertilization.',NULL,NULL,NULL,NULL,NULL),(15837,'UniProt Function',NULL,18862,NULL,'May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses.',NULL,NULL,NULL,NULL,NULL),(15838,'UniProt Function',NULL,18863,NULL,'Plays a regulatory role in the organization of neuroendocrine signals accessing the anterior pituitary gland. Stimulates water drinking and food intake. May play a role in the hypothalamic response to stress (By similarity). NPW23 activates GPR7 and GPR8 more efficiently than NPW30.',NULL,NULL,NULL,NULL,NULL),(15839,'UniProt Function',NULL,18864,NULL,'Receptor for neuropeptide Y and peptide YY. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity. Seems to be associated with food intake. Could be involved in feeding disorders.',NULL,NULL,NULL,NULL,NULL),(15840,'UniProt Function',NULL,18865,NULL,'The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinones involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis.',NULL,NULL,NULL,NULL,NULL),(15841,'UniProt Function',NULL,18866,NULL,'Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells (PubMed:16188940). Plays a role in VAMP3-mediated vesicular transport and recycling of different receptor molecules through its interaction with VAMP3. Plays a role in the regulation of cell shape and movement by modulating the Rho-family GTPase activity through its interaction with ARHGEF25/GEFT. Induces primordial adhesive contact and aggregation of epithelial cells in a Ca(2+)-independent manner. Also involved in striated muscle regeneration and repair and in the regulation of cell spreading (By similarity). Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density (PubMed:26642364). Is also a caveolae-associated protein important for the preservation of caveolae structural and functional integrity as well as for heart protection against ischemia injury.',NULL,NULL,NULL,NULL,NULL),(15842,'UniProt Function',NULL,18867,NULL,'Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density.',NULL,NULL,NULL,NULL,NULL),(15843,'UniProt Function',NULL,18868,NULL,'May have roles in neural function. Ectopic expression augments motility of gliomas. Promotes also axonal regeneration (By similarity). May also have functions in cellular differentiation (By similarity). Induces differentiation of fibroblast into myofibroblast and myofibroblast ameboid migration. Increases retinoic-acid regulation of lipid-droplet biogenesis (By similarity). Down-regulates the expression of TGFB1 and TGFB2 but not of TGFB3 (By similarity). May play a role in the regulation of alveolar generation.',NULL,NULL,NULL,NULL,NULL),(15844,'UniProt Function',NULL,18869,NULL,'Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B (PubMed:21981118). Functions also as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3 (PubMed:17335001). Binds in a sequence-specific manner to the rhodopsin promoter (PubMed:17335001).',NULL,NULL,NULL,NULL,NULL),(15845,'UniProt Function',NULL,18870,NULL,'High affinity receptor for semaphorins 3C, 3F, VEGF-165 and VEGF-145 isoforms of VEGF, and the PLGF-2 isoform of PGF.',NULL,NULL,NULL,NULL,NULL),(15846,'UniProt Function',NULL,18870,NULL,'(Microbial infection) Acts as a receptor for human cytomegalovirus pentamer-dependent entry in epithelial and endothelial cells.',NULL,NULL,NULL,NULL,NULL),(15847,'UniProt Function',NULL,18871,NULL,'The membrane-bound isoform 1 is a receptor involved in the development of the cardiovascular system, in angiogenesis, in the formation of certain neuronal circuits and in organogenesis outside the nervous system. It mediates the chemorepulsant activity of semaphorins. It binds to semaphorin 3A, The PLGF-2 isoform of PGF, The VEGF165 isoform of VEGFA and VEGFB. Coexpression with KDR results in increased VEGF165 binding to KDR as well as increased chemotaxis. Regulate VEGF-induced angiogenesis. Binding to VEGFA initiates a signaling pathway needed for motor neuron axon guidance and cell body migration, including for the caudal migration of facial motor neurons from rhombomere 4 to rhombomere 6 during embryonic development (By similarity).',NULL,NULL,NULL,NULL,NULL),(15848,'UniProt Function',NULL,18871,NULL,'The soluble isoform 2 binds VEGF-165 and appears to inhibit its binding to cells. It may also induce apoptosis by sequestering VEGF-165. May bind as well various members of the semaphorin family. Its expression has an averse effect on blood vessel number and integrity.',NULL,NULL,NULL,NULL,NULL),(15849,'UniProt Function',NULL,18872,NULL,'Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)-triggered exocytosis of secretory granules in pituitary gland. They may effect their functions at synapses and in endocrine cells via their interactions with proteins from the exocytotic machinery. Likewise, alpha-type isoforms play a role in regulating the activity of postsynaptic NMDA receptors, a subtype of glutamate-gated ion channels. Both alpha-type and beta-type isoforms may play a role in the formation or maintenance of synaptic junctions via their calcium-dependent interactions (via the extracellular domains) with neuroligin family members, CBLN1 or CBLN2. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Alpha-type isoforms were first identified as receptors for alpha-latrotoxin from spider venom (By similarity).',NULL,NULL,NULL,NULL,NULL),(15850,'UniProt Function',NULL,18873,NULL,'Neuronal cell surface protein that may be involved in cell recognition and cell adhesion.',NULL,NULL,NULL,NULL,NULL),(15851,'UniProt Function',NULL,18874,NULL,'Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis.',NULL,NULL,NULL,NULL,NULL),(15852,'UniProt Function',NULL,18875,NULL,'RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Within MAGE-RING ubiquitin ligase complex, MAGE stimulates and specifies ubiquitin ligase activity likely through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. Involved in maintenance of genome integrity, DNA damage response and DNA repair (PubMed:29225034, PubMed:20864041). NSMCE3/MAGEG1 and NSMCE1 ubiquitin ligase are components of SMC5-SMC6 complex and may positively regulate homologous recombination-mediated DNA repair (PubMed:18086888). MAGEF1-NSMCE1 ubiquitin ligase promotes proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Down-regulation of MMS19 impairs the activity of several DNA repair and metabolism enzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that require iron-sulfur clusters as cofactors (PubMed:29225034).',NULL,NULL,NULL,NULL,NULL),(15853,'UniProt Function',NULL,18877,NULL,'May have S-adenosyl-L-methionine-dependent methyl-transferase activity.',NULL,NULL,NULL,NULL,NULL),(15854,'UniProt Function',NULL,18878,NULL,'Glycogen-targeting subunit for protein phosphatase 1 (PP1). Involved in the regulation of hepatic glycogenesis in a manner coupled to the fasting-feeding cycle and distinct from other glycogen-targeting subunits (By similarity).',NULL,NULL,NULL,NULL,NULL),(15855,'UniProt Function',NULL,18879,NULL,'Inhibitor of PPP1CA. Has over 1000-fold higher inhibitory activity when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction.',NULL,NULL,NULL,NULL,NULL),(15856,'UniProt Function',NULL,18882,NULL,'Dephosphorylates specifically the 5\' and 2\'(3\')-phosphates of uracil and thymine deoxyribonucleotides, and so protects mitochondrial DNA replication from excess dTTP. Has only marginal activity towards dIMP and dGMP.',NULL,NULL,NULL,NULL,NULL),(15857,'UniProt Function',NULL,18883,NULL,'Involved in mitochondrial ribosome assembly. 5-methylcytosine rRNA methyltransferase that probably is involved in mitochondrial ribosome small subunit (SSU) maturation by methylation of mitochondrial 12S rRNA; the function is independent of MTERFD2/MTERF4 and assembled mitochondrial ribosome large subunit (LSU). Targeted to LSU by MTERFD2/MTERF4 and probably is involved in a final step in ribosome biogenesis to ensure that SSU and LSU are assembled. In vitro can methylate 16S rRNA of the LSU; the methylation is enhanced by MTERFD/MTERF4.',NULL,NULL,NULL,NULL,NULL),(15858,'UniProt Function',NULL,18884,NULL,'May have S-adenosyl-L-methionine-dependent methyl-transferase activity.',NULL,NULL,NULL,NULL,NULL),(15859,'UniProt Function',NULL,18885,NULL,'May have S-adenosyl-L-methionine-dependent methyl-transferase activity.',NULL,NULL,NULL,NULL,NULL),(15860,'UniProt Function',NULL,18886,NULL,'Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(15861,'UniProt Function',NULL,18887,NULL,'Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954, PubMed:29856955). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954, PubMed:29856955). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (PubMed:29856955).',NULL,NULL,NULL,NULL,NULL),(15862,'UniProt Function',NULL,18888,NULL,'Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(15863,'UniProt Function',NULL,18890,NULL,'Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism.',NULL,NULL,NULL,NULL,NULL),(15864,'UniProt Function',NULL,18891,NULL,'Transporter for bile acids.',NULL,NULL,NULL,NULL,NULL),(15865,'UniProt Function',NULL,18892,NULL,'Does not show transport activity towards bile acids or steroid sulfates (including taurocholate, cholate, chenodeoxycholate, estrone-3-sulfate, dehydroepiandrosterone sulfate (DHEAS) and pregnenolone sulfate).',NULL,NULL,NULL,NULL,NULL),(15866,'UniProt Function',NULL,18893,NULL,'The hepatic sodium/bile acid uptake system exhibits broad substrate specificity and transports various non-bile acid organic compounds as well. It is strictly dependent on the extracellular presence of sodium.',NULL,NULL,NULL,NULL,NULL),(15867,'UniProt Function',NULL,18893,NULL,'(Microbial infection) Acts as a receptor for hepatitis B virus.',NULL,NULL,NULL,NULL,NULL),(15868,'UniProt Function',NULL,18894,NULL,'Scaffold protein which mediates the formation of the PTW/PP1 phosphatase complex by providing a binding platform to each component of the complex. The PTW/PP1 phosphatase complex plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Mediates interaction of WDR82 and PPP1CA. Inhibitor of PPP1CA and PPP1CC phosphatase activities. Has inhibitory activity on PPP1CA only when phosphorylated. Binds to mRNA, single-stranded DNA (ssDNA), poly(A) and poly(G) homopolymers (By similarity).',NULL,NULL,NULL,NULL,NULL),(15869,'UniProt Function',NULL,18895,NULL,'Mediates the side-chain deamidation of N-terminal glutamine residues to glutamate, an important step in N-end rule pathway of protein degradation. Conversion of the resulting N-terminal glutamine to glutamate renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. Does not act on substrates with internal or C-terminal glutamine and does not act on non-glutamine residues in any position. Does not deaminate acetylated N-terminal glutamine. With the exception of proline, all tested second-position residues on substrate peptides do not greatly influence the activity. In contrast, a proline at position 2, virtually abolishes deamidation of N-terminal glutamine.',NULL,NULL,NULL,NULL,NULL),(15870,'UniProt Function',NULL,18896,NULL,'Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3\' to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines. Has also 8-oxo-7,8-dihydroguanine (8-oxoG) DNA glycosylase activity. Acts preferentially on DNA damage opposite guanine residues in DNA. Is able to process lesions in nucleosomes without requiring or inducing nucleosome disruption.',NULL,NULL,NULL,NULL,NULL),(15871,'UniProt Function',NULL,18897,NULL,'Seems to promote the survival of visceral and proprioceptive sensory neurons.',NULL,NULL,NULL,NULL,NULL),(15872,'UniProt Function',NULL,18898,NULL,'Alpha-N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes monomethylation of exposed alpha-amino group of Ala or Ser residue in the [Ala/Ser]-Pro-Lys motif and Pro in the Pro-Pro-Lys motif. May activate NTMT1 by priming its substrates for trimethylation.',NULL,NULL,NULL,NULL,NULL),(15873,'UniProt Function',NULL,18901,NULL,'Receptor for the tridecapeptide neurotensin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(15874,'UniProt Function',NULL,18902,NULL,'Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic and nervous neurons. High affinity receptor for NGF which is its primary ligand (PubMed:1850821, PubMed:1849459, PubMed:1281417, PubMed:8325889, PubMed:15488758, PubMed:17196528, PubMed:27445338). Can also bind and be activated by NTF3/neurotrophin-3. However, NTF3 only supports axonal extension through NTRK1 but has no effect on neuron survival (By similarity). Upon dimeric NGF ligand-binding, undergoes homodimerization, autophosphorylation and activation (PubMed:1281417). Recruits, phosphorylates and/or activates several downstream effectors including SHC1, FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlapping signaling cascades driving cell survival and differentiation. Through SHC1 and FRS2 activates a GRB2-Ras-MAPK cascade that regulates cell differentiation and survival. Through PLCG1 controls NF-Kappa-B activation and the transcription of genes involved in cell survival. Through SHC1 and SH2B1 controls a Ras-PI3 kinase-AKT1 signaling cascade that is also regulating survival. In absence of ligand and activation, may promote cell death, making the survival of neurons dependent on trophic factors.',NULL,NULL,NULL,NULL,NULL),(15875,'UniProt Function',NULL,18902,NULL,'Isoform TrkA-III: Resistant to NGF, it constitutively activates AKT1 and NF-kappa-B and is unable to activate the Ras-MAPK signaling cascade. Antagonizes the anti-proliferative NGF-NTRK1 signaling that promotes neuronal precursors differentiation. Isoform TrkA-III promotes angiogenesis and has oncogenic activity when overexpressed.',NULL,NULL,NULL,NULL,NULL),(15876,'UniProt Function',NULL,18903,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).',NULL,NULL,NULL,NULL,NULL),(15877,'UniProt Function',NULL,18905,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).',NULL,NULL,NULL,NULL,NULL),(15878,'UniProt Function',NULL,18907,NULL,'This isozyme may play a role in skeletal mineralization.',NULL,NULL,NULL,NULL,NULL),(15879,'UniProt Function',NULL,18908,NULL,'Neurotensin may play an endocrine or paracrine role in the regulation of fat metabolism. It causes contraction of smooth muscle.',NULL,NULL,NULL,NULL,NULL),(15880,'UniProt Function',NULL,18910,NULL,'Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa.',NULL,NULL,NULL,NULL,NULL),(15881,'UniProt Function',NULL,18911,NULL,'Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3 (PubMed:18829453). May also act as scaffold protein in the nucleus.',NULL,NULL,NULL,NULL,NULL),(15882,'UniProt Function',NULL,18912,NULL,'May function in cell specification, particularly in the CNS.',NULL,NULL,NULL,NULL,NULL),(15883,'UniProt Function',NULL,18913,NULL,'Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptional repressor NR1D1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(15884,'UniProt Function',NULL,18914,NULL,'Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and probably mediates its effects by recruiting and clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Required to maintain wakefulness quality and normal synchrony of cerebral cortex activity during wakefulness and sleep.',NULL,NULL,NULL,NULL,NULL),(15885,'UniProt Function',NULL,18915,NULL,'Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and may mediate its effects by clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system (By similarity).',NULL,NULL,NULL,NULL,NULL),(15886,'UniProt Function',NULL,18916,NULL,'Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition; channels containing GRIN1 and GRIN2A have higher sensitivity to glutamate and faster kinetics than channels formed by GRIN1 and GRIN2B (PubMed:26919761, PubMed:26875626). Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity).',NULL,NULL,NULL,NULL,NULL),(15887,'UniProt Function',NULL,18917,NULL,'Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28126851). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:8768735, PubMed:26875626). In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death. Contributes to neural pattern formation in the developing brain. Plays a role in long-term depression (LTD) of hippocampus membrane currents and in synaptic plasticity (By similarity).',NULL,NULL,NULL,NULL,NULL),(15888,'UniProt Function',NULL,18918,NULL,'As the sensor component of the NLRP9 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens, including rotavirus, initiates the formation of the inflammasome polymeric complex, made of NLRP9, PYCARD and CASP1. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and release in the extracellular milieu. The active cytokines stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death. NLRP9 inflammasome activation may be initiated by DHX9 interaction with viral double-stranded RNA (dsRNA), preferentially to short dsRNA segments.',NULL,NULL,NULL,NULL,NULL),(15889,'UniProt Function',NULL,18919,NULL,'Participates in antiviral signaling. Acts as a negative regulator of MAVS-mediated antiviral responses, through the inhibition of the virus-induced RLH (RIG-like helicase)-MAVS interaction (PubMed:18200010). Instead, promotes autophagy by interacting with TUFM and subsequently recruiting the autophagy-related proteins ATG5 and ATG12 (PubMed:22749352). Regulates also MAVS-dependent NLRP3 inflammasome activation to attenuate apoptosis (PubMed:27393910). Has no inhibitory function on NF-kappa-B signaling pathway, but enhances NF-kappa-B and JUN N-terminal kinase dependent signaling through the production of reactive oxygen species (PubMed:18219313).',NULL,NULL,NULL,NULL,NULL),(15890,'UniProt Function',NULL,18920,NULL,'May be involved in augmenting coactivator protein recruitment to a group of sequence-specific transcription factors. Augments cytokine-mediated STAT transcription. Enhances CBP/p300 coactivator protein recruitment to STAT1 and STAT5.',NULL,NULL,NULL,NULL,NULL),(15891,'UniProt Function',NULL,18921,NULL,'May bind to 28S rRNA.',NULL,NULL,NULL,NULL,NULL),(15892,'UniProt Function',NULL,18922,NULL,'Isoform 1: May be involved in RNA splicing.',NULL,NULL,NULL,NULL,NULL),(15893,'UniProt Function',NULL,18922,NULL,'Isoform 2: Functions as an apoptosis repressor that blocks multiple modes of cell death. Inhibits extrinsic apoptotic pathways through two different ways. Firstly by interacting with FAS and FADD upon FAS activation blocking death-inducing signaling complex (DISC) assembly (By similarity). Secondly by interacting with CASP8 in a mitochondria localization- and phosphorylation-dependent manner, limiting the amount of soluble CASP8 available for DISC-mediated activation (By similarity). Inhibits intrinsic apoptotic pathway in response to a wide range of stresses, through its interaction with BAX resulting in BAX inactivation, preventing mitochondrial dysfunction and release of pro-apoptotic factors (PubMed:15004034). Inhibits calcium-mediated cell death by functioning as a cytosolic calcium buffer, dissociating its interaction with CASP8 and maintaining calcium homeostasis (PubMed:15509781). Negatively regulates oxidative stress-induced apoptosis by phosphorylation-dependent suppression of the mitochondria-mediated intrinsic pathway, by blocking CASP2 activation and BAX translocation (By similarity). Negatively regulates hypoxia-induced apoptosis in part by inhibiting the release of cytochrome c from mitochondria in a caspase-independent manner (By similarity). Also inhibits TNF-induced necrosis by preventing TNF-signaling pathway through TNFRSF1A interaction abrogating the recruitment of RIPK1 to complex I (By similarity). Finally through its role as apoptosis repressor, promotes vascular remodeling through inhibition of apoptosis and stimulation of proliferation, in response to hypoxia (By similarity). Inhibits too myoblast differentiation through caspase inhibition (By similarity).',NULL,NULL,NULL,NULL,NULL),(15894,'UniProt Function',NULL,18923,NULL,'Involved in transforming growth factor beta (TGF-beta)-induced smooth muscle differentiation. TGF-beta induces expression and translocation of OLFM2 to the nucleus where it binds to SRF, causing its dissociation from the transcriptional repressor HEY2/HERP1 and facilitating binding of SRF to target genes (PubMed:25298399). Plays a role in AMPAR complex organization (By similarity). Is a regulator of vascular smooth-muscle cell (SMC) phenotypic switching, that acts by promoting RUNX2 and inhibiting MYOCD binding to SRF. SMC phenotypic switching is the process through which vascular SMCs undergo transition between a quiescent contractile phenotype and a proliferative synthetic phenotype in response to pathological stimuli. SMC phenotypic plasticity is essential for vascular development and remodeling (By similarity).',NULL,NULL,NULL,NULL,NULL),(15895,'UniProt Function',NULL,18924,NULL,'May antagonize Nodal signaling.',NULL,NULL,NULL,NULL,NULL),(15896,'UniProt Function',NULL,18926,NULL,'Plays an essential role in the survival of diffuse-type gastric cancer cells. Acts as a nucleolar anchoring protein for DDX47. May be involved in regulation of gene expression at the post-transcriptional level or in ribosome biogenesis in cancer cells.',NULL,NULL,NULL,NULL,NULL),(15897,'UniProt Function',NULL,18927,NULL,'Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine (\"psi\") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.',NULL,NULL,NULL,NULL,NULL),(15898,'UniProt Function',NULL,18929,NULL,'Ribosome biogenesis factor. May be required for both optimal rDNA transcription and small subunit (SSU) pre-rRNA processing at sites A\', A0, 1 and 2b.',NULL,NULL,NULL,NULL,NULL),(15899,'UniProt Function',NULL,18930,NULL,'May possess a function in tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(15900,'UniProt Function',NULL,18931,NULL,'May possess a function in tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(15901,'UniProt Function',NULL,18933,NULL,'Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(15902,'UniProt Function',NULL,18934,NULL,'Histone methyltransferase. Preferentially methylates \'Lys-36\' of histone H3 and \'Lys-20\' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.',NULL,NULL,NULL,NULL,NULL),(15903,'UniProt Function',NULL,18936,NULL,'Plays a role in the recycling mechanism in neurons of multiple receptors, including AMPAR, APP and L1CAM and acts at the level of early endosomes to promote sorting of receptors toward a recycling pathway. Regulates sorting and recycling of GRIA2 through interaction with GRIP1 and then contributes to the regulation of synaptic transmission and plasticity by affecting the recycling and targeting of AMPA receptors to the synapse (By similarity). Is required for faithful sorting of L1CAM to axons by facilitating trafficking from somatodendritic early endosome or the recycling endosome (By similarity). In an other hand, induces apoptosis via the activation of CASP3 in response to DNA damage (PubMed:20599942, PubMed:20878061).',NULL,NULL,NULL,NULL,NULL),(15904,'UniProt Function',NULL,18939,NULL,'Component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination (PubMed:20864041, PubMed:27427983). The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). In vitro enhances ubiquitin ligase activity of NSMCE1. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex (PubMed:20864041). May be a growth suppressor that facilitates the entry of the cell into cell cycle arrest (By similarity).',NULL,NULL,NULL,NULL,NULL),(15905,'UniProt Function',NULL,18940,NULL,'Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (PubMed:16517606). May sensitize cells to DNA damage-induced apoptosis (PubMed:18505924).',NULL,NULL,NULL,NULL,NULL),(15906,'UniProt Function',NULL,18941,NULL,'Converts sphingomyelin to ceramide. Hydrolyze 1-acyl-2-lyso-sn-glycero-3-phosphocholine (lyso-PC) and 1-O-alkyl-2-lyso-sn-glycero-3-phosphocholine (lyso-platelet-activating factor). The physiological substrate seems to be Lyso-PAF.',NULL,NULL,NULL,NULL,NULL),(15907,'UniProt Function',NULL,18942,NULL,'Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity).',NULL,NULL,NULL,NULL,NULL),(15908,'UniProt Function',NULL,18943,NULL,'Inhibitor of the PP1 regulatory subunit PPP1CA.',NULL,NULL,NULL,NULL,NULL),(15909,'UniProt Function',NULL,18944,NULL,'Inhibits protein phosphatase 1 activity toward phosphorylase, myosin light chain and myosin substrates.',NULL,NULL,NULL,NULL,NULL),(15910,'UniProt Function',NULL,18945,NULL,'Regulator of protein phosphatase 1 (PP1) that acts as a positive regulator of pulmonary endothelial cell (EC) barrier function (PubMed:18586956). Involved in the regulation of the PI3K/AKT signaling pathway, angiogenesis and endothelial cell proliferation (PubMed:25007873). Regulates angiogenesis and endothelial cell proliferation through the control of ECE1 dephosphorylation, trafficking and activity (By similarity). Protects the endothelial barrier from lipopolysaccharide (LPS)-induced vascular leakage (By similarity). Involved in the regulation of endothelial cell filopodia extension (By similarity). May be a downstream target for TGF-beta1 signaling cascade in endothelial cells (PubMed:16263087, PubMed:18586956). Involved in PKA-mediated moesin dephosphorylation which is important in EC barrier protection against thrombin stimulation (PubMed:18586956). Promotes the interaction of PPP1CA with RPSA/LAMR1 and in turn facilitates the dephosphorylation of RPSA/LAMR1 (PubMed:16263087). Involved in the dephosphorylation of EEF1A1 (PubMed:26497934).',NULL,NULL,NULL,NULL,NULL),(15911,'UniProt Function',NULL,18947,NULL,'S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 in 28S rRNA.',NULL,NULL,NULL,NULL,NULL),(15912,'UniProt Function',NULL,18948,NULL,'N-terminal asparagine deamidase that mediates deamidation of N-terminal asparagine residues to aspartate. Required for the ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by acylaminoacid hydrolase (AAH). Conversion of the resulting N-terminal asparagine to aspartate by NTAN1/PNAD renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. This enzyme does not act on substrates with internal or C-terminal asparagines and does not act on glutamine residues in any position, nor on acetylated N-terminal peptidyl Asn.',NULL,NULL,NULL,NULL,NULL),(15913,'UniProt Function',NULL,18949,NULL,'Atypical E3 ubiquitin-protein ligase which ubiquitinates TLR2 at \'Lys-754\' leading to its degradation by the proteasome. Plays a role in regulating inflammatory cytokine release and gram-positive bacterial clearance by functioning, in part, through the ubiquitination and degradation of TLR2 (PubMed:27805901). Inhibitor of protein phosphatase 1 (PubMed:9843442).',NULL,NULL,NULL,NULL,NULL),(15914,'UniProt Function',NULL,18950,NULL,'Distributive alpha-N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Gly/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes mono-, di- or tri-methylation of the exposed alpha-amino group of the Ala, Gly or Ser residue in the [Ala/Gly/Ser]-Pro-Lys motif and mono- or di-methylation of Pro in the Pro-Pro-Lys motif. Some of the substrates may be primed by METTL11B-mediated monomethylation (PubMed:24090352). Catalyzes the trimethylation of the N-terminal Gly in CENPA (after removal of Met-1). Responsible for the N-terminal methylation of KLHL31, MYL2, MYL3, RB1, RCC1, RPL23A and SET. Required during mitosis for normal bipolar spindle formation and chromosome segregation via its action on RCC1.',NULL,NULL,NULL,NULL,NULL),(15915,'UniProt Function',NULL,18951,NULL,'Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites.',NULL,NULL,NULL,NULL,NULL),(15916,'UniProt Function',NULL,18952,NULL,'Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites.',NULL,NULL,NULL,NULL,NULL),(15917,'UniProt Function',NULL,18957,NULL,'Has nucleotide phosphatase activity towards ATP, GTP, CTP, TTP and UTP. Hydrolyzes nucleoside diphosphates with lower efficiency.',NULL,NULL,NULL,NULL,NULL),(15918,'UniProt Function',NULL,18958,NULL,'Neural cell adhesion molecule.',NULL,NULL,NULL,NULL,NULL),(15919,'UniProt Function',NULL,18959,NULL,'PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase.',NULL,NULL,NULL,NULL,NULL),(15920,'UniProt Function',NULL,18960,NULL,'Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways, including the phosphatidylinositol 3-kinase/AKT and the MAPK pathways, that control cell survival and differentiation.',NULL,NULL,NULL,NULL,NULL),(15921,'UniProt Function',NULL,18961,NULL,'Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals (PubMed:15671020, PubMed:18838687, PubMed:19154138, PubMed:23468591). Many of the substrates contain a PxIxIT motif and/or a LxVP motif (PubMed:17498738, PubMed:17502104, PubMed:23468591, PubMed:27974827, PubMed:22343722). In response to increased Ca(2+) levels, dephosphorylates and activates phosphatase SSH1 which results in cofilin dephosphorylation (PubMed:15671020). In response to increased Ca(2+) levels following mitochondrial depolarization, dephosphorylates DNM1L inducing DNM1L translocation to the mitochondrion (PubMed:18838687). Dephosphorylates heat shock protein HSPB1 (By similarity). Dephosphorylates and activates transcription factor NFATC1 (PubMed:19154138). In response to increased Ca(2+) levels, regulates NFAT-mediated transcription probably by dephosphorylating NFAT and promoting its nuclear translocation (PubMed:26248042). Dephosphorylates and inactivates transcription factor ELK1 (PubMed:19154138). Dephosphorylates DARPP32 (PubMed:19154138).',NULL,NULL,NULL,NULL,NULL),(15922,'UniProt Function',NULL,18962,NULL,'Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with TPR, regulates the nuclear export of unspliced mRNA species bearing constitutive transport element (CTE) in a NXF1- and KHDRBS1-independent manner. Mediates TPR anchoring to the nuclear membrane at NPC. The repeat-containing domain may be involved in anchoring other components of the NPC to the pore membrane. Possible DNA-binding subunit of the nuclear pore complex (NPC).',NULL,NULL,NULL,NULL,NULL),(15923,'UniProt Function',NULL,18964,NULL,'Involved in poly(A)+ RNA transport.',NULL,NULL,NULL,NULL,NULL),(15924,'UniProt Function',NULL,18965,NULL,'May function as a component of the nuclear pore complex (NPC).',NULL,NULL,NULL,NULL,NULL),(15925,'UniProt Function',NULL,18966,NULL,'Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate. Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate.',NULL,NULL,NULL,NULL,NULL),(15926,'UniProt Function',NULL,18967,NULL,'Catalyzes the first step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4\'-phosphopantothenate to form 4-phosphopantothenoylcysteine.',NULL,NULL,NULL,NULL,NULL),(15927,'UniProt Function',NULL,18968,NULL,'Catalyzes the transfer of phosphatidylcholine between membranes. Binds a single lipid molecule.',NULL,NULL,NULL,NULL,NULL),(15928,'UniProt Function',NULL,18969,NULL,'May play a role in phototransduction. May dephosphorylate photoactivated rhodopsin. May function as a calcium sensing regulator of ionic currents, energy production or synaptic transmission.',NULL,NULL,NULL,NULL,NULL),(15929,'UniProt Function',NULL,18970,NULL,'Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3. In the HUSH complex, contributes to the maintenance of the complex at chromatin (PubMed:26022416). Acts as a transcriptional corepressor and regulates the cell cycle, probably via the HUSH complex (PubMed:15474462, PubMed:17963697). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (Probable).',NULL,NULL,NULL,NULL,NULL),(15930,'UniProt Function',NULL,18971,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).',NULL,NULL,NULL,NULL,NULL),(15931,'UniProt Function',NULL,18972,NULL,'Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate.',NULL,NULL,NULL,NULL,NULL),(15932,'UniProt Function',NULL,18973,NULL,'Calcium-binding protein. May have a role in calcium homeostasis.',NULL,NULL,NULL,NULL,NULL),(15933,'UniProt Function',NULL,18973,NULL,'Nesfatin-1: Anorexigenic peptide, seems to play an important role in hypothalamic pathways regulating food intake and energy homeostasis, acting in a leptin-independent manner. May also exert hypertensive roles and modulate blood pressure through directly acting on peripheral arterial resistance (By similarity).',NULL,NULL,NULL,NULL,NULL),(15934,'UniProt Function',NULL,18974,NULL,'Has a ubiquitin-protein ligase activity acting as an E3 ubiquitin protein ligase or as an ubiquitin-ubiquitin ligase promoting elongation of ubiquitin chains on substrates. By mediating \'Lys-48\'-linked polyubiquitination of proteins could target them for proteasomal degradation (PubMed:11435423). May also function as a chaperone, playing a role in transport to the cell membrane of BSG/Basigin for instance (PubMed:15946952). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357).',NULL,NULL,NULL,NULL,NULL),(15935,'UniProt Function',NULL,18975,NULL,'Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.',NULL,NULL,NULL,NULL,NULL),(15936,'UniProt Function',NULL,18976,NULL,'Component of the nuclear pore complex that has a direct role in nuclear protein import (PubMed:20016008). Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and importin recycling (PubMed:20016008). Interacts with regulatory proteins of cell cycle progression including CDKN1B (By similarity). This interaction is required for correct intracellular transport and degradation of CDKN1B (By similarity).',NULL,NULL,NULL,NULL,NULL),(15937,'UniProt Function',NULL,18977,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15938,'UniProt Function',NULL,18978,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15939,'UniProt Function',NULL,18979,NULL,'Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane.',NULL,NULL,NULL,NULL,NULL),(15940,'UniProt Function',NULL,18980,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15941,'UniProt Function',NULL,18981,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15942,'UniProt Function',NULL,18982,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15943,'UniProt Function',NULL,18983,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(15944,'UniProt Function',NULL,18984,NULL,'The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA.',NULL,NULL,NULL,NULL,NULL),(15945,'UniProt Function',NULL,18985,NULL,'The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA.',NULL,NULL,NULL,NULL,NULL),(15946,'UniProt Function',NULL,18991,NULL,'Growth regulator. Inhibits the proliferation of a number of tumor cell lines. Stimulates proliferation of AIDS-KS cells. It regulates cytokine production, including IL-6, G-CSF and GM-CSF from endothelial cells. Uses both type I OSM receptor (heterodimers composed of LIPR and IL6ST) and type II OSM receptor (heterodimers composed of OSMR and IL6ST). Involved in the maturation of fetal hepatocytes, thereby promoting liver development and regeneration (By similarity).',NULL,NULL,NULL,NULL,NULL),(15947,'UniProt Function',NULL,18992,NULL,'Transcriptional activator. Binds the consensus DNA sequence 5\'-DHWATTGAYTWWD-3\' on a variety of gene promoters such as those of HNF3B and TTR (By similarity).',NULL,NULL,NULL,NULL,NULL),(15948,'UniProt Function',NULL,18993,NULL,'May be involved in cell differentiation.',NULL,NULL,NULL,NULL,NULL),(15949,'UniProt Function',NULL,18995,NULL,'Chaperone protein which promotes assembly of the 20S proteasome. May cooperate with PSMG1-PSMG2 heterodimers to orchestrate the correct assembly of proteasomes.',NULL,NULL,NULL,NULL,NULL),(15950,'UniProt Function',NULL,18996,NULL,'Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:15274632, PubMed:10545183, PubMed:10593990, PubMed:10206644, PubMed:10899933, PubMed:10811883, PubMed:12679784, PubMed:12740439, PubMed:25043039, PubMed:26280335). Requires the presence of the other members of the gamma-secretase complex for protease activity (PubMed:15274632, PubMed:25043039, PubMed:26280335). Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (PubMed:9738936, PubMed:10593990, PubMed:10899933, PubMed:10811883). Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11953314). Under conditions of apoptosis or calcium influx, cleaves CDH1 (PubMed:11953314). This promotes the disassembly of the complexes between CDH1 and CTNND1, JUP and CTNNB1, increases the pool of cytoplasmic CTNNB1, and thereby negatively regulates Wnt signaling (PubMed:9738936, PubMed:11953314). Required for normal embryonic brain and skeleton development, and for normal angiogenesis (By similarity). Mediates the proteolytic cleavage of EphB2/CTF1 into EphB2/CTF2 (PubMed:17428795).',NULL,NULL,NULL,NULL,NULL),(15951,'UniProt Function',NULL,18998,NULL,'Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter.',NULL,NULL,NULL,NULL,NULL),(15952,'UniProt Function',NULL,19000,NULL,'Exhibits neurotrophic activity on mesencephalic dopaminergic and motor neurons.',NULL,NULL,NULL,NULL,NULL),(15953,'UniProt Function',NULL,19001,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(15954,'UniProt Function',NULL,19002,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(15955,'UniProt Function',NULL,19003,NULL,'Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate (By similarity). Negatively regulates Rho activity by interacting with AKAP13/LBC (PubMed:15249197). Acts as a transcriptional activator of the MYC gene; binds DNA non-specifically (PubMed:8392752, PubMed:19435876). Binds to both single-stranded guanine- and cytosine-rich strands within the nuclease hypersensitive element (NHE) III(1) region of the MYC gene promoter. Does not bind to duplex NHE III(1) (PubMed:19435876). Has G-quadruplex (G4) DNA-binding activity, which is independent of its nucleotide-binding and kinase activity. Binds both folded and unfolded G4 with similar low nanomolar affinities. Stabilizes folded G4s regardless of whether they are prefolded or not (PubMed:25679041). Exhibits histidine protein kinase activity (PubMed:20946858).',NULL,NULL,NULL,NULL,NULL),(15956,'UniProt Function',NULL,19004,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(15957,'UniProt Function',NULL,19005,NULL,'Acts as a transcriptional regulator that recognizes and binds to the sequence 5\'-[GA]TTA[CT]GTAA[CT]-3\', a sequence present in many cellular and viral promoters. Represses transcription from promoters with activating transcription factor (ATF) sites. Represses promoter activity in osteoblasts (By similarity). Represses transcriptional activity of PER1 (By similarity). Represses transcriptional activity of PER2 via the B-site on the promoter (By similarity). Activates transcription from the interleukin-3 promoter in T-cells. Competes for the same consensus-binding site with PAR DNA-binding factors (DBP, HLF and TEF) (By similarity). Component of the circadian clock that acts as a negative regulator for the circadian expression of PER2 oscillation in the cell-autonomous core clock (By similarity). Protects pro-B cells from programmed cell death (By similarity).',NULL,NULL,NULL,NULL,NULL),(15958,'UniProt Function',NULL,19006,NULL,'Acts as a \"third messenger\" substrate of protein kinase C-mediated molecular cascades during synaptic development and remodeling. Binds to calmodulin in the absence of calcium (By similarity).',NULL,NULL,NULL,NULL,NULL),(15959,'UniProt Function',NULL,19007,NULL,'May function in lysosomal catabolism of sialylated glycoconjugates. Has sialidase activity towards synthetic substrates, such as 2\'-(4-methylumbelliferyl)-alpha-D-N-acetylneuraminic acid (4-MU-NANA or 4MU-NeuAc). Has a broad substrate specificity being active on glycoproteins, oligosaccharides and sialylated glycolipids.',NULL,NULL,NULL,NULL,NULL),(15960,'UniProt Function',NULL,19008,NULL,'Acts as a transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5\'-CANNTG-3\'). Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(15961,'UniProt Function',NULL,19009,NULL,'Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5\'-CCAAT-3\' box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors. NF-YA positively regulates the transcription of the core clock component ARNTL/BMAL1.',NULL,NULL,NULL,NULL,NULL),(15962,'UniProt Function',NULL,19010,NULL,'As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). May have a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(15963,'UniProt Function',NULL,19011,NULL,'Transcriptional repressor of Notch-mediated signaling. Required for spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(15964,'UniProt Function',NULL,19012,NULL,'Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. May regulate branching morphogenesis in the developing vascular system (By similarity).',NULL,NULL,NULL,NULL,NULL),(15965,'UniProt Function',NULL,19013,NULL,'Required for 60S ribosomal subunit biogenesis (By similarity). Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such as U3, U8 and U14 snoRNAs.',NULL,NULL,NULL,NULL,NULL),(15966,'UniProt Function',NULL,19014,NULL,'May possess a function in tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(15967,'UniProt Function',NULL,19015,NULL,'Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5\'-ends. Also a component of RNase MRP complex, which cleaves pre-rRNA sequences.',NULL,NULL,NULL,NULL,NULL),(15968,'UniProt Function',NULL,19016,NULL,'May phosphorylate cofilin-1 and induce actin polymerization through this process, during the late stages of embryogenesis. Involved in the TNF-alpha-induced signaling pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(15969,'UniProt Function',NULL,19017,NULL,'Involved in many cell functions, including pre-mRNA splicing, the aryl hydrocarbon receptor (AHR) pathway, F-actin organization and protein ubiquitination. Plays a role in the dynamic organization of the actin skeleton as a stabilizer of actin filaments by association with F-actin through Kelch repeats (By similarity). Protects cells from cell death induced by actin destabilization (By similarity). Functions as modifier of the AHR/Aryl hydrocarbon receptor pathway increasing the concentration of AHR available to activate transcription (PubMed:16582008). In addition, functions as a negative regulator of BCR(KLHL20) E3 ubiquitin ligase complex to prevent ubiquitin-mediated proteolysis of PML and DAPK1, two tumor suppressors (PubMed:25619834). Inhibits pre-mRNA splicing (in vitro) (PubMed:9696811).',NULL,NULL,NULL,NULL,NULL),(15970,'UniProt Function',NULL,19017,NULL,'(Microbial infection) Involved in the alternative splicing of influenza A virus M1 mRNA through interaction with HNRNPK, thereby facilitating the generation of viral M2 protein.',NULL,NULL,NULL,NULL,NULL),(15971,'UniProt Function',NULL,19018,NULL,'Histone methyltransferase with histone H3 \'Lys-27\' (H3K27me) methyltransferase activity. Isoform 2 may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment.',NULL,NULL,NULL,NULL,NULL),(15972,'UniProt Function',NULL,19019,NULL,'E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination. Is not be required for the stability of the complex. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Acts as an E3 ligase mediating SUMO attachment to various proteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and maybe the cohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. SUMO protein-ligase activity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair, and for formation of APBs in ALT cell lines. Required for sister chromatid cohesion during prometaphase and mitotic progression.',NULL,NULL,NULL,NULL,NULL),(15973,'UniProt Function',NULL,19021,NULL,'Binds beta-galactoside and lactose. Strong inducer of T-cell apoptosis (PubMed:10527825, PubMed:19497882). Has hemagglutinating activity towards chicken erythrocytes (PubMed:29343868).',NULL,NULL,NULL,NULL,NULL),(15974,'UniProt Function',NULL,19022,NULL,'Inhibitor of PPP1CA. Has inhibitory activity only when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction.',NULL,NULL,NULL,NULL,NULL),(15975,'UniProt Function',NULL,19023,NULL,'Nuclear receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the nuclear receptor binds to DNA specific PPAR response elements (PPRE) and modulates the transcription of its target genes, such as acyl-CoA oxidase. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. ARF6 acts as a key regulator of the tissue-specific adipocyte P2 (aP2) enhancer. Acts as a critical regulator of gut homeostasis by suppressing NF-kappa-B-mediated proinflammatory responses. Plays a role in the regulation of cardiovascular circadian rhythms by regulating the transcription of ARNTL/BMAL1 in the blood vessels (By similarity).',NULL,NULL,NULL,NULL,NULL),(15976,'UniProt Function',NULL,19023,NULL,'(Microbial infection) Upon treatment with M.tuberculosis or its lipoprotein LpqH, phosphorylation of MAPK p38 and IL-6 production are modulated, probably via this protein.',NULL,NULL,NULL,NULL,NULL),(15977,'UniProt Function',NULL,19024,NULL,'May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage (PubMed:15219672). May play a role in odontogenesis (PubMed:27843125).',NULL,NULL,NULL,NULL,NULL),(15978,'UniProt Function',NULL,19025,NULL,'Probable serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides after a arginine or lysine residue. May play a role in the regulation of synaptic vesiscle exocytosis (PubMed:24610330).',NULL,NULL,NULL,NULL,NULL),(15979,'UniProt Function',NULL,19026,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).',NULL,NULL,NULL,NULL,NULL),(15980,'UniProt Function',NULL,19027,NULL,'May have a role in the recovery or adaptation response of photoreceptors. May have a role in development.',NULL,NULL,NULL,NULL,NULL),(15981,'UniProt Function',NULL,19028,NULL,'Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins.',NULL,NULL,NULL,NULL,NULL),(15982,'UniProt Function',NULL,19029,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).',NULL,NULL,NULL,NULL,NULL),(15983,'UniProt Function',NULL,19030,NULL,'Major calcium-binding protein of the Golgi. May have a role in calcium homeostasis (By similarity).',NULL,NULL,NULL,NULL,NULL),(15984,'UniProt Function',NULL,19031,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (PubMed:16595688).',NULL,NULL,NULL,NULL,NULL),(15985,'UniProt Function',NULL,19033,NULL,'Binds RNA.',NULL,NULL,NULL,NULL,NULL),(15986,'UniProt Function',NULL,19035,NULL,'May contribute to the regulation of cell proliferation.',NULL,NULL,NULL,NULL,NULL),(15987,'UniProt Function',NULL,19036,NULL,'Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. It also serve as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involved in tumorigenesis by regulating apoptosis.',NULL,NULL,NULL,NULL,NULL),(15988,'UniProt Function',NULL,19037,NULL,'Involved in pre-mRNA splicing as component of the spliceosome (PubMed:28781166). Binds to the 5\'-stem-loop of U4 snRNA and thereby contributes to spliceosome assembly (PubMed:10545122, PubMed:17412961). The protein undergoes a conformational change upon RNA-binding (PubMed:17412961).',NULL,NULL,NULL,NULL,NULL),(15989,'UniProt Function',NULL,19038,NULL,'Transcription activator that binds to antioxidant response (ARE) elements in the promoter regions of target genes. Important for the coordinated up-regulation of genes in response to oxidative stress and the regulation of cellular redox conditions. May be involved in the transcriptional activation of genes of the beta-globin cluster by mediating enhancer activity of hypersensitive site 2 of the beta-globin locus control region.',NULL,NULL,NULL,NULL,NULL),(15990,'UniProt Function',NULL,19039,NULL,'Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly.',NULL,NULL,NULL,NULL,NULL),(15991,'UniProt Function',NULL,19040,NULL,'Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:10993067, PubMed:12679784, PubMed:25043039, PubMed:26280335). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels.',NULL,NULL,NULL,NULL,NULL),(15992,'UniProt Function',NULL,19041,NULL,'Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity).',NULL,NULL,NULL,NULL,NULL),(15993,'UniProt Function',NULL,19042,NULL,'Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus (By similarity).',NULL,NULL,NULL,NULL,NULL),(15994,'UniProt Function',NULL,19043,NULL,'Putative transcription factor, which may be involved in patterning of central nervous system and pancreas.',NULL,NULL,NULL,NULL,NULL),(15995,'UniProt Function',NULL,19045,NULL,'Transcription regulator acting downstream of both FOXA2 and Brachyury (T) during notochord development. Required for node morphogenesis. Is essential for cilia formation in the posterior notochord (PNC) and for left-right patterning; acts upstream of FOXJ1 and RFX3 in this process and is required for the expression of various components important for axonemal assembly and function. Plays a role in regulating axial versus paraxial cell fate. Activates the transcription of ciliary proteins C11orf97 homolog, FAM183B and SPACA9 in the embryonic ventral node (By similarity).',NULL,NULL,NULL,NULL,NULL),(15996,'UniProt Function',NULL,19046,NULL,'Acidic protein which may be involved in interactions with other proteins or DNA.',NULL,NULL,NULL,NULL,NULL),(15997,'UniProt Function',NULL,19047,NULL,'Acts as histone chaperone in nucleosome assembly.',NULL,NULL,NULL,NULL,NULL),(15998,'UniProt Function',NULL,19048,NULL,'NOH-1S is a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes and other tissues. It participates in the regulation of cellular pH and is blocked by zinc. NOH-1L is a pyridine nucleotide-dependent oxidoreductase that generates superoxide and might conduct H(+) ions as part of its electron transport mechanism, whereas NOH-1S does not contain an electron transport chain.',NULL,NULL,NULL,NULL,NULL),(15999,'UniProt Function',NULL,19049,NULL,'Modulates arousal and anxiety. May play an important anorexigenic role (By similarity). Binds to its receptor NPSR1 with nanomolar affinity to increase intracellular calcium concentrations (PubMed:15312648, PubMed:16790440).',NULL,NULL,NULL,NULL,NULL),(16000,'UniProt Function',NULL,19051,NULL,'Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF with integrin alpha-8/beta-1 which is essential for kidney development. May also play a role in the development and function of various tissues, regulating cell adhesion, spreading and survival through the binding of several integrins (By similarity).',NULL,NULL,NULL,NULL,NULL),(16001,'UniProt Function',NULL,19052,NULL,'Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT).',NULL,NULL,NULL,NULL,NULL),(16002,'UniProt Function',NULL,19054,NULL,'Low affinity ligand for the ERBB4 tyrosine kinase receptor. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. Does not bind to the ERBB1, ERBB2 and ERBB3 receptors (By similarity).',NULL,NULL,NULL,NULL,NULL),(16003,'UniProt Function',NULL,19055,NULL,'Modulates transcriptional activation by steroid receptors such as NR3C1, NR3C2 and ESR1. Also modulates transcriptional repression by nuclear hormone receptors. Positive regulator of the circadian clock gene expression: stimulates transcription of ARNTL/BMAL1, CLOCK and CRY1 by acting as a coactivator for RORA and RORC.',NULL,NULL,NULL,NULL,NULL),(16004,'UniProt Function',NULL,19057,NULL,'Supports the survival of sympathetic neurons in culture. May regulate the development and maintenance of the CNS. Might control the size of non-neuronal cell population such as haemopoietic cells.',NULL,NULL,NULL,NULL,NULL),(16005,'UniProt Function',NULL,19058,NULL,'May play an important role in neural organelle transport, and in transduction of nerve signals or in nerve growth. May play a role in neurite extension. May play a role in memory consolidation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16006,'UniProt Function',NULL,19059,NULL,'May play a role in maintenance and/or transport of vesicles.',NULL,NULL,NULL,NULL,NULL),(16007,'UniProt Function',NULL,19060,NULL,'Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling.',NULL,NULL,NULL,NULL,NULL),(16008,'UniProt Function',NULL,19061,NULL,'Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May play a role in angiogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(16009,'UniProt Function',NULL,19064,NULL,'Histone methyltransferase. Preferentially methylates \'Lys-4\' and \'Lys-27\' of histone H3. H3 \'Lys-4\' methylation represents a specific tag for epigenetic transcriptional activation, while \'Lys-27\' is a mark for transcriptional repression.',NULL,NULL,NULL,NULL,NULL),(16010,'UniProt Function',NULL,19065,NULL,'Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Binds to two or more telomeric single-stranded 5\'-TTAGGG-3\' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5\'-TAGGGTTAG-3\' sequence. Binds telomeric single-stranded sequences internally or at proximity of a 3\'-end. Its activity is TERT dependent but it does not increase TERT activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity.',NULL,NULL,NULL,NULL,NULL),(16011,'UniProt Function',NULL,19069,NULL,'Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Is involved in positive regulation of response to DNA damage stimulus.',NULL,NULL,NULL,NULL,NULL),(16012,'UniProt Function',NULL,19070,NULL,'Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth suppressor in confluent cells. Probably acts as a regulator of postnatal development and participates in bone and dentin mineralization.',NULL,NULL,NULL,NULL,NULL),(16013,'UniProt Function',NULL,19071,NULL,'Reduces the ATPase activity of VCP (By similarity). Necessary for the fragmentation of Golgi stacks during mitosis and for VCP-mediated reassembly of Golgi stacks after mitosis (By similarity). May play a role in VCP-mediated formation of transitional endoplasmic reticulum (tER) (By similarity). Inhibits the activity of CTSL (in vitro) (PubMed:15498563). Together with UBXN2B/p37, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase (PubMed:23649807). Also, regulates spindle orientation during mitosis (PubMed:23649807).',NULL,NULL,NULL,NULL,NULL),(16014,'UniProt Function',NULL,19072,NULL,'Couples NMDA-sensitive glutamate receptor signaling to the nucleus and triggers long-lasting changes in the cytoarchitecture of dendrites and spine synapse processes. Part of the cAMP response element-binding protein (CREB) shut-off signaling pathway. Stimulates outgrowth of olfactory axons and migration of gonadotropin-releasing hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH) neuronal cells.',NULL,NULL,NULL,NULL,NULL),(16015,'UniProt Function',NULL,19073,NULL,'Regulates myosin phosphatase activity.',NULL,NULL,NULL,NULL,NULL),(16016,'UniProt Function',NULL,19074,NULL,'RNA-binding protein that mediates pre-mRNA alternative splicing regulation.',NULL,NULL,NULL,NULL,NULL),(16017,'UniProt Function',NULL,19075,NULL,'Inhibitor of PPP1CA. Has over 50-fold higher inhibitory activity when phosphorylated (By similarity).',NULL,NULL,NULL,NULL,NULL),(16018,'UniProt Function',NULL,19076,NULL,'Dephosphorylates the 5\' and 2\'(3\')-phosphates of deoxyribonucleotides, with a preference for dUMP and dTMP, intermediate activity towards dGMP, and low activity towards dCMP and dAMP.',NULL,NULL,NULL,NULL,NULL),(16019,'UniProt Function',NULL,19077,NULL,'RNA methyltransferase that methylates tRNAs, and possibly RNA polymerase III transcripts. Methylates cytosine to 5-methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors. May act downstream of Myc to regulate epidermal cell growth and proliferation. Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity.',NULL,NULL,NULL,NULL,NULL),(16020,'UniProt Function',NULL,19079,NULL,'Mitochondrial tRNA methyltransferase that mediates methylation of cytosine to 5-methylcytosine (m5C) at position 34 of mt-tRNA(Met) (PubMed:27497299, PubMed:27214402, PubMed:27356879). mt-tRNA(Met) methylation at cytosine(34) takes place at the wobble position of the anticodon and initiates the formation of 5-formylcytosine (f(5)c) at this position (PubMed:27497299, PubMed:27214402, PubMed:27356879). mt-tRNA(Met) containing the f(5)c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation (PubMed:27497299, PubMed:27356879).',NULL,NULL,NULL,NULL,NULL),(16021,'UniProt Function',NULL,19080,NULL,'Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin dependent protein kinase II. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Regulates NEK2 function in terms of kinase activity and centrosome number and splitting, both in the presence and absence of radiation-induced DNA damage. Regulator of neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. May dephosphorylate CSNK1D and CSNK1E. Dephosphorylates the \'Ser-418\' residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208). Dephosphorylates CENPA (PubMed:25556658). Dephosphorylates the \'Ser-139\' residue of ATG16L1 causing dissociation of ATG12-ATG5-ATG16L1 complex, thereby inhibiting autophagy (PubMed:26083323).',NULL,NULL,NULL,NULL,NULL),(16022,'UniProt Function',NULL,19081,NULL,'Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2.',NULL,NULL,NULL,NULL,NULL),(16023,'UniProt Function',NULL,19082,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(16024,'UniProt Function',NULL,19083,NULL,'Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(16025,'UniProt Function',NULL,19084,NULL,'E3 ubiquitin-protein ligase involved in regulation of the Notch pathway through influencing the stability and activity of several Notch ligands.',NULL,NULL,NULL,NULL,NULL),(16026,'UniProt Function',NULL,19085,NULL,'Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins.',NULL,NULL,NULL,NULL,NULL),(16027,'UniProt Function',NULL,19086,NULL,'Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. Its binding to scaffolding polyubiquitin seems to play a role in IKK activation by multiple signaling receptor pathways. However, the specific type of polyubiquitin recognized upon cell stimulation (either \'Lys-63\'-linked or linear polyubiquitin) and its functional importance is reported conflictingly. Also considered to be a mediator for TAX activation of NF-kappa-B. Could be implicated in NF-kappa-B-mediated protection from cytokine toxicity. Essential for viral activation of IRF3. Involved in TLR3- and IFIH1-mediated antiviral innate response; this function requires \'Lys-27\'-linked polyubiquitination.',NULL,NULL,NULL,NULL,NULL),(16028,'UniProt Function',NULL,19087,NULL,'Catalyzes the removal of elemental sulfur from cysteine to produce alanine. It supplies the inorganic sulfur for iron-sulfur (Fe-S) clusters. May be involved in the biosynthesis of molybdenum cofactor.',NULL,NULL,NULL,NULL,NULL),(16029,'UniProt Function',NULL,19088,NULL,'Recognizes and binds the palindromic sequence 5\'-TTGGCNNNNNGCCAA-3\' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.',NULL,NULL,NULL,NULL,NULL),(16030,'UniProt Function',NULL,19089,NULL,'Iron-trafficking protein involved in multiple processes such as apoptosis, innate immunity and renal development (PubMed:12453413, PubMed:27780864, PubMed:20581821). Binds iron through association with 2,5-dihydroxybenzoic acid (2,5-DHBA), a siderophore that shares structural similarities with bacterial enterobactin, and delivers or removes iron from the cell, depending on the context. Iron-bound form (holo-24p3) is internalized following binding to the SLC22A17 (24p3R) receptor, leading to release of iron and subsequent increase of intracellular iron concentration. In contrast, association of the iron-free form (apo-24p3) with the SLC22A17 (24p3R) receptor is followed by association with an intracellular siderophore, iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration. Involved in apoptosis due to interleukin-3 (IL3) deprivation: iron-loaded form increases intracellular iron concentration without promoting apoptosis, while iron-free form decreases intracellular iron levels, inducing expression of the proapoptotic protein BCL2L11/BIM, resulting in apoptosis (By similarity). Involved in innate immunity; limits bacterial proliferation by sequestering iron bound to microbial siderophores, such as enterobactin (PubMed:27780864). Can also bind siderophores from M.tuberculosis (PubMed:15642259, PubMed:21978368).',NULL,NULL,NULL,NULL,NULL),(16031,'UniProt Function',NULL,19091,NULL,'Constitutive NADPH oxidase which generates superoxide intracellularly upon formation of a complex with CYBA/p22phox. Regulates signaling cascades probably through phosphatases inhibition. May function as an oxygen sensor regulating the KCNK3/TASK-1 potassium channel and HIF1A activity. May regulate insulin signaling cascade. May play a role in apoptosis, bone resorption and lipolysaccharide-mediated activation of NFKB. May produce superoxide in the nucleus and play a role in regulating gene expression upon cell stimulation. Isoform 3 is not functional. Isoform 5 and isoform 6 display reduced activity.',NULL,NULL,NULL,NULL,NULL),(16032,'UniProt Function',NULL,19091,NULL,'Isoform 4: Involved in redox signaling in vascular cells. Constitutively and NADPH-dependently generates reactive oxygen species (ROS). Modulates the nuclear activation of ERK1/2 and the ELK1 transcription factor, and is capable of inducing nuclear DNA damage. Displays an increased activity relative to isoform 1.',NULL,NULL,NULL,NULL,NULL),(16033,'UniProt Function',NULL,19092,NULL,'Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.',NULL,NULL,NULL,NULL,NULL),(16034,'UniProt Function',NULL,19093,NULL,'Morphine modulating peptides. Have wide-ranging physiologic effects, including the modulation of morphine-induced analgesia, elevation of arterial blood pressure, and increased somatostatin secretion from the pancreas. Neuropeptide FF potentiates and sensitizes ASIC1 and ASIC3 channels.',NULL,NULL,NULL,NULL,NULL),(16035,'UniProt Function',NULL,19095,NULL,'Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By similarity).',NULL,NULL,NULL,NULL,NULL),(16036,'UniProt Function',NULL,19096,NULL,'Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5\'-ends. Also a component of RNase MRP.',NULL,NULL,NULL,NULL,NULL),(16037,'UniProt Function',NULL,19097,NULL,'May play a role in the maintenance of heart function mediated, at least in part, through cAMP-binding.',NULL,NULL,NULL,NULL,NULL),(16038,'UniProt Function',NULL,19098,NULL,'Neuronal cell surface protein that may be involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins. May play a role in formation or maintenance of synaptic junctions. May mediate intracellular signaling. May play a role in angiogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(16039,'UniProt Function',NULL,19099,NULL,'Probable regulator of exocrine pancreas development.',NULL,NULL,NULL,NULL,NULL),(16040,'UniProt Function',NULL,19100,NULL,'PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.',NULL,NULL,NULL,NULL,NULL),(16041,'UniProt Function',NULL,19101,NULL,'Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate.',NULL,NULL,NULL,NULL,NULL),(16042,'UniProt Function',NULL,19103,NULL,'May regulate the LIS1/dynein pathway by stabilizing LIS1 with Hsp90 chaperone.',NULL,NULL,NULL,NULL,NULL),(16043,'UniProt Function',NULL,19104,NULL,'Hydrolyzes UDP-glucose to glucose 1-phosphate and UMP and ADP-ribose to ribose 5-phosphate and AMP. The physiological substrate is probably UDP-glucose. Poor activity on other substrates such as ADP-glucose, CDP-glucose, GDP-glucose and GDP-mannose.',NULL,NULL,NULL,NULL,NULL),(16044,'UniProt Function',NULL,19105,NULL,'Forms with the serine/threonine protein phosphatase CTDNEP1 an active complex which dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol.',NULL,NULL,NULL,NULL,NULL),(16045,'UniProt Function',NULL,19106,NULL,'Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.',NULL,NULL,NULL,NULL,NULL),(16046,'UniProt Function',NULL,19107,NULL,'Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:9442076, PubMed:26329378, PubMed:19265707, PubMed:19285087, PubMed:11880376). May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator (Probable).',NULL,NULL,NULL,NULL,NULL),(16047,'UniProt Function',NULL,19108,NULL,'Plays a role in neurogenesis. Prevents motor neuron cell body migration out of the neural tube.',NULL,NULL,NULL,NULL,NULL),(16048,'UniProt Function',NULL,19109,NULL,'E3 ubiquitin-protein ligase. Seems to utilize UBE2E1. In vitro, generates polyubiquitin chains via non-canonical lysine residues suggesting that it is not involved in tagging substrates for proteasomal degradation.',NULL,NULL,NULL,NULL,NULL),(16049,'UniProt Function',NULL,19111,NULL,'Recognizes and binds the palindromic sequence 5\'-TTGGCNNNNNGCCAA-3\' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.',NULL,NULL,NULL,NULL,NULL),(16050,'UniProt Function',NULL,19112,NULL,'Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5\'-CCAAT-3\' box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors.',NULL,NULL,NULL,NULL,NULL),(16051,'UniProt Function',NULL,19113,NULL,'Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity).',NULL,NULL,NULL,NULL,NULL),(16052,'UniProt Function',NULL,19114,NULL,'This is a receptor for the tachykinin neuropeptide substance P. It is probably associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substance P > substance K > neuromedin-K.',NULL,NULL,NULL,NULL,NULL),(16053,'UniProt Function',NULL,19115,NULL,'This is a receptor for the tachykinin neuropeptide substance K (neurokinin A). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substance K > neuromedin-K > substance P.',NULL,NULL,NULL,NULL,NULL),(16054,'UniProt Function',NULL,19116,NULL,'Serine/threonine-protein kinase that regulates a number of transcription factors with key roles in cell fate determination. Positive effector of the non-canonical Wnt signaling pathway, acting downstream of WNT5A, MAP3K7/TAK1 and HIPK2. Activation of this pathway causes binding to and phosphorylation of the histone methyltransferase SETDB1. The NLK-SETDB1 complex subsequently interacts with PPARG, leading to methylation of PPARG target promoters at histone H3K9 and transcriptional silencing. The resulting loss of PPARG target gene transcription inhibits adipogenesis and promotes osteoblastogenesis in mesenchymal stem cells (MSCs). Negative regulator of the canonical Wnt/beta-catenin signaling pathway. Binds to and phosphorylates TCF7L2/TCF4 and LEF1, promoting the dissociation of the TCF7L2/LEF1/beta-catenin complex from DNA, as well as the ubiquitination and subsequent proteolysis of LEF1. Together these effects inhibit the transcriptional activation of canonical Wnt/beta-catenin target genes. Negative regulator of the Notch signaling pathway. Binds to and phosphorylates NOTCH1, thereby preventing the formation of a transcriptionally active ternary complex of NOTCH1, RBPJ/RBPSUH and MAML1. Negative regulator of the MYB family of transcription factors. Phosphorylation of MYB leads to its subsequent proteolysis while phosphorylation of MYBL1 and MYBL2 inhibits their interaction with the coactivator CREBBP. Other transcription factors may also be inhibited by direct phosphorylation of CREBBP itself. Acts downstream of IL6 and MAP3K7/TAK1 to phosphorylate STAT3, which is in turn required for activation of NLK by MAP3K7/TAK1. Upon IL1B stimulus, cooperates with ATF5 to activate the transactivation activity of C/EBP subfamily members. Phosphorylates ATF5 but also stabilizes ATF5 protein levels in a kinase-independent manner (PubMed:25512613).',NULL,NULL,NULL,NULL,NULL),(16055,'UniProt Function',NULL,19117,NULL,'Transcription factor with repressor activity involved in the regulation of axon-glial interactions at myelin paranodes in oligodendrocytes. Binds to the consensus DNA sequence 5\'-(A/T)TTAATGA-3\'. In oligodendrocytes, binds to MBP and PLP1 promoter regions.',NULL,NULL,NULL,NULL,NULL),(16056,'UniProt Function',NULL,19118,NULL,'Plays a role in regulating Notch activity. Plays a role in regulating the expression of CDKN1A and several members of the Wnt pathway, probably via its effects on Notch activity. Required during embryogenesis for inner mass cell survival (By similarity).',NULL,NULL,NULL,NULL,NULL),(16057,'UniProt Function',NULL,19119,NULL,'Probable transcription factor.',NULL,NULL,NULL,NULL,NULL),(16058,'UniProt Function',NULL,19120,NULL,'May regulate RNA splicing or metabolism in a specific subset of developing neurons (By similarity). Binds single strand RNA.',NULL,NULL,NULL,NULL,NULL),(16059,'UniProt Function',NULL,19121,NULL,'Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:17018531, PubMed:11125141, PubMed:18772377, PubMed:29580834, PubMed:15937921). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:17018531, PubMed:18772377, PubMed:27238017). May bind and mobilize cholesterol that is associated with membranes (PubMed:18823126). NPC2 binds cholesterol with a 1:1 stoichiometry (PubMed:17018531). Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol (PubMed:17018531). The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport (By similarity).',NULL,NULL,NULL,NULL,NULL),(16060,'UniProt Function',NULL,19122,NULL,'May control regulatory pathways relevant to schizophrenia and to psychotic illness. May play a role in late central nervous system development by modulating EPO expression in response to cellular oxygen level (By similarity). Forms a heterodimer that binds core DNA sequence 5\'-TACGTG-3\' within the hypoxia response element (HRE) leading to transcriptional repression on its target gene TH (By similarity).',NULL,NULL,NULL,NULL,NULL),(16061,'UniProt Function',NULL,19123,NULL,'E3 ubiquitin-protein ligase that is essential for proper development of the forebrain, the eye, and the face. Catalyzes monoubiquitination of serine/threonine-protein phosphatase 2A (PP2A) catalytic subunit PPP2CA/PPP2CB (By similarity). Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity (PubMed:11149895, PubMed:15548660, PubMed:16135813).',NULL,NULL,NULL,NULL,NULL),(16062,'UniProt Function',NULL,19124,NULL,'Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.',NULL,NULL,NULL,NULL,NULL),(16063,'UniProt Function',NULL,19125,NULL,'The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and UFD1, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination and degradation of DDX58/RIG-I (PubMed:26471729).',NULL,NULL,NULL,NULL,NULL),(16064,'UniProt Function',NULL,19126,NULL,'As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.',NULL,NULL,NULL,NULL,NULL),(16065,'UniProt Function',NULL,19128,NULL,'May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx.',NULL,NULL,NULL,NULL,NULL),(16066,'UniProt Function',NULL,19129,NULL,'Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is PP, PP (2-36) and [Ile-31, Gln-34] PP > [Pro-34] PYY > PYY and [Leu-31, Pro-34] NPY > NPY > PYY (3-36) and NPY (2-36) > PP (13-36) > PP (31-36) > NPY free acid.',NULL,NULL,NULL,NULL,NULL),(16067,'UniProt Function',NULL,19130,NULL,'The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinons involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis.',NULL,NULL,NULL,NULL,NULL),(16068,'UniProt Function',NULL,19131,NULL,'When expressed, is unable to bind pancreatic polypeptide (PP), neuropeptide Y (NPY), or peptide YY (PYY), suggesting that either it is functionally inactive or that it may have acquired a pancreatic polypeptide-independent function.',NULL,NULL,NULL,NULL,NULL),(16069,'UniProt Function',NULL,19132,NULL,'NPY is implicated in the control of feeding and in secretion of gonadotrophin-release hormone.',NULL,NULL,NULL,NULL,NULL),(16070,'UniProt Function',NULL,19133,NULL,'Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC (PubMed:15229283).',NULL,NULL,NULL,NULL,NULL),(16071,'UniProt Function',NULL,19134,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).',NULL,NULL,NULL,NULL,NULL),(16072,'UniProt Function',NULL,19135,NULL,'Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphate Ap6A, but not Ap5A. The major reaction products are ADP and p4a from Ap6A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA.',NULL,NULL,NULL,NULL,NULL),(16073,'UniProt Function',NULL,19136,NULL,'RNA-binding and decapping enzyme that catalyzes the cleavage of the cap structure of snoRNAs and mRNAs in a metal-dependent manner. Part of the U8 snoRNP complex that is required for the accumulation of mature 5.8S and 28S rRNA. Has diphosphatase activity and removes m7G and/or m227G caps from U8 snoRNA and leaves a 5\'monophosphate on the RNA. Catalyzes also the cleavage of the cap structure on mRNAs. Does not hydrolyze cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG). Also hydrolysis m7G- and m227G U3-capped RNAs but with less efficiencies. Has broad substrate specificity with manganese or cobalt as cofactor and can act on various RNA species. Binds to the U8 snoRNA; metal is not required for RNA-binding. May play a role in the regulation of snoRNAs and mRNAs degradation. Acts also as a phosphatase; hydrolyzes the non-canonical purine nucleotides inosine diphosphate (IDP) and deoxyinosine diphosphate (dITP) as well as guanosine diphosphate (GDP), deoxyguanosine diphosphate (dGDP), xanthine diphosphate (XDP), inosine triphosphate (ITP) and deoxyinosine triphosphate (ITP) to their respective monophosphate derivatives and does not distinguish between the deoxy- and ribose forms (PubMed:20385596, PubMed:26121039). The order of activity with different substrates is IDP > dIDP >> GDP = dGDP > XDP = ITP = dITP (PubMed:20385596). Binds strongly to GTP, ITP and XTP. Participates in the hydrolysis of dIDP/IDP and probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions (PubMed:20385596).',NULL,NULL,NULL,NULL,NULL),(16074,'UniProt Function',NULL,19137,NULL,'Enzyme that can either act as an ADP-sugar pyrophosphatase in absence of diphosphate or catalyze the synthesis of ATP in presence of diphosphate (PubMed:27257257). In absence of diphosphate, hydrolyzes with similar activities various modified nucleoside diphosphates such as ADP-ribose, ADP-mannose, ADP-glucose, 8-oxo-GDP and 8-oxo-dGDP (PubMed:10567213, PubMed:10722730, PubMed:19699693, PubMed:21389046, PubMed:17052728). Can also hydrolyze other nucleotide sugars with low activity (PubMed:19699693, PubMed:21389046). In presence of diphosphate, mediates the synthesis of ATP in the nucleus by catalyzing the conversion of ADP-ribose to ATP and ribose 5-phosphate. Nuclear ATP synthesis takes place when dephosphorylated at Thr-45 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). Does not play a role in U8 snoRNA decapping activity (By similarity). Binds U8 snoRNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(16075,'UniProt Function',NULL,19138,NULL,'Probably mediates the hydrolysis of some nucleoside diphosphate derivatives.',NULL,NULL,NULL,NULL,NULL),(16076,'UniProt Function',NULL,19139,NULL,'Acts as a regulator of transcriptional activation. Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2.',NULL,NULL,NULL,NULL,NULL),(16077,'UniProt Function',NULL,19140,NULL,'May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development.',NULL,NULL,NULL,NULL,NULL),(16078,'UniProt Function',NULL,19141,NULL,'Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gland and inducing differentiation of mammary tumor cells; stimulating Schwann cell proliferation; implication in the development of the myocardium such as trabeculation of the developing heart. Isoform 10 may play a role in motor and sensory neuron development. Binds to ERBB4 (PubMed:10867024, PubMed:7902537). Binds to ERBB3 (PubMed:20682778). Acts as a ligand for integrins and binds (via EGF domain) to integrins ITGAV:ITGB3 or ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and ERRB3 are essential for NRG1-ERBB signaling. Induces the phosphorylation and activation of MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:20682778). Ligand-dependent ERBB4 endocytosis is essential for the NRG1-mediated activation of these kinases in neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(16079,'UniProt Function',NULL,19142,NULL,'Direct ligand for the ERBB4 tyrosine kinase receptor. Binding results in ligand-stimulated tyrosine phosphorylation and activation of the receptor. Does not bind to the EGF receptor, ERBB2 or ERBB3 receptors. May be a survival factor for oligodendrocytes.',NULL,NULL,NULL,NULL,NULL),(16080,'UniProt Function',NULL,19143,NULL,'Promotes neurite outgrowth and especially branching of neuritic processes in primary hippocampal and cortical cells.',NULL,NULL,NULL,NULL,NULL),(16081,'UniProt Function',NULL,19151,NULL,'Involved in the biogenesis of the 60S ribosomal subunit. May play a part in the quality control of pre-60S particles (By similarity).',NULL,NULL,NULL,NULL,NULL),(16082,'UniProt Function',NULL,19152,NULL,'Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis.',NULL,NULL,NULL,NULL,NULL),(16083,'UniProt Function',NULL,19154,NULL,'Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphate Ap6A, but not Ap5A. The major reaction products are ADP and p4a from Ap6A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA.',NULL,NULL,NULL,NULL,NULL),(16084,'UniProt Function',NULL,19155,NULL,'Cleaves DNA at double-stranded (DG)n.(DC)n and at single-stranded (DC)n tracts. In addition to deoxyribonuclease activities, also has ribonuclease (RNase) and RNase H activities. Capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA (By similarity).',NULL,NULL,NULL,NULL,NULL),(16085,'UniProt Function',NULL,19156,NULL,'Component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation. NEMF is responsible for selective recognition of stalled 60S subunits by recognizing an exposed, nascent chain-conjugated tRNA moiety. NEMF is important for the stable association of LTN1 to the complex (PubMed:25578875). May indirectly play a role in nuclear export (PubMed:16103875).',NULL,NULL,NULL,NULL,NULL),(16086,'UniProt Function',NULL,19157,NULL,'Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins, oligosaccharides and gangliosides.',NULL,NULL,NULL,NULL,NULL),(16087,'UniProt Function',NULL,19158,NULL,'Nociceptin: Ligand of the opioid receptor-like receptor OPRL1. It may act as a transmitter in the brain by modulating nociceptive and locomotor behavior. May be involved in neuronal differentiation and development.',NULL,NULL,NULL,NULL,NULL),(16088,'UniProt Function',NULL,19158,NULL,'Nocistatin: Blocks nociceptin action in pain transmission by inhibiting nociceptin-induced hyperalgesia and allodynia.',NULL,NULL,NULL,NULL,NULL),(16089,'UniProt Function',NULL,19158,NULL,'Orphanin FQ2: Has potent analgesic activity.',NULL,NULL,NULL,NULL,NULL),(16090,'UniProt Function',NULL,19159,NULL,'Contributes to the regulation of axonal growth in the embryonic and adult central nervous system by inhibiting interactions between RTN4R and LINGO1. Inhibits RTN4R-mediated axon growth cone collapse (By similarity). May play an important role in regulating the production of neural crest cells by the neural tube (By similarity). May be required for normal responses to olfactory stimuli (By similarity).',NULL,NULL,NULL,NULL,NULL),(16091,'UniProt Function',NULL,19161,NULL,'May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning, via its interaction with NCLN.',NULL,NULL,NULL,NULL,NULL),(16092,'UniProt Function',NULL,19162,NULL,'DNA- and RNA binding protein, involved in several nuclear processes. Binds the conventional octamer sequence in double-stranded DNA. Also binds single-stranded DNA and RNA at a site independent of the duplex site. Involved in pre-mRNA splicing, probably as a heterodimer with SFPQ. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3\' side of U5 snRNA stem 1b. Together with PSPC1, required for the formation of nuclear paraspeckles. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclear retention of defective RNAs. The SFPQ-NONO heteromer may be involved in DNA unwinding by modulating the function of topoisomerase I/TOP1. The SFPQ-NONO heteromer may be involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination and may stabilize paired DNA ends. In vitro, the complex strongly stimulates DNA end joining, binds directly to the DNA substrates and cooperates with the Ku70/G22P1-Ku80/XRCC5 (Ku) dimer to establish a functional preligation complex. NONO is involved in transcriptional regulation. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. NONO binds to an enhancer element in long terminal repeats of endogenous intracisternal A particles (IAPs) and activates transcription. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Important for the functional organization of GABAergic synapses. Plays a specific and important role in the regulation of synaptic RNAs and GPHN/gephyrin scaffold structure, through the regulation of GABRA2 transcript. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728).',NULL,NULL,NULL,NULL,NULL),(16093,'UniProt Function',NULL,19163,NULL,'Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:10567578, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with TCOF1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). Involved in nucleologenesis, possibly by playing a role in the maintenance of the fundamental structure of the fibrillar center and dense fibrillar component in the nucleolus (PubMed:9016786). It has intrinsic GTPase and ATPase activities (PubMed:9016786).',NULL,NULL,NULL,NULL,NULL),(16094,'UniProt Function',NULL,19164,NULL,'Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543). Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity).',NULL,NULL,NULL,NULL,NULL),(16095,'UniProt Function',NULL,19165,NULL,'Transcription factor expressed in neurons of the brain that regulates the excitatory-inhibitory balance within neural circuits and is required for contextual memory in the hyppocampus (By similarity). Plays a key role in the structural and functional plasticity of neurons (By similarity). Acts as an early-response transcription factor in both excitatory and inhibitory neurons, where it induces distinct but overlapping sets of late-response genes in these two types of neurons, allowing the synapses that form on inhibitory and excitatory neurons to be modified by neuronal activity in a manner specific to their function within a circuit, thereby facilitating appropriate circuit responses to sensory experience (By similarity). In excitatory neurons, activates transcription of BDNF, which in turn controls the number of GABA-releasing synapses that form on excitatory neurons, thereby promoting an increased number of inhibitory synapses on excitatory neurons (By similarity). In inhibitory neurons, regulates a distinct set of target genes that serve to increase excitatory input onto somatostatin neurons, probably resulting in enhanced feedback inhibition within cortical circuits (By similarity). The excitatory and inhibitory balance in neurons affects a number of processes, such as short-term and long-term memory, acquisition of experience, fear memory, response to stress and social behavior (By similarity). Acts as a regulator of dendritic spine development in olfactory bulb granule cells in a sensory-experience-dependent manner by regulating expression of MDM2 (By similarity). Efficient DNA binding requires dimerization with another bHLH protein, such as ARNT, ARNT2 or BMAL1 (PubMed:14701734). Can activate the CME (CNS midline enhancer) element (PubMed:14701734).',NULL,NULL,NULL,NULL,NULL),(16096,'UniProt Function',NULL,19166,NULL,'Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).',NULL,NULL,NULL,NULL,NULL),(16097,'UniProt Function',NULL,19167,NULL,'Involved in diverse cellular processes such as ribosome biogenesis, centrosome duplication, protein chaperoning, histone assembly, cell proliferation, and regulation of tumor suppressors p53/TP53 and ARF. Binds ribosome presumably to drive ribosome nuclear export. Associated with nucleolar ribonucleoprotein structures and bind single-stranded nucleic acids. Acts as a chaperonin for the core histones H3, H2B and H4. Stimulates APEX1 endonuclease activity on apurinic/apyrimidinic (AP) double-stranded DNA but inhibits APEX1 endonuclease activity on AP single-stranded RNA. May exert a control of APEX1 endonuclease activity within nucleoli devoted to repair AP on rDNA and the removal of oxidized rRNA molecules. In concert with BRCA2, regulates centrosome duplication. Regulates centriole duplication: phosphorylation by PLK2 is able to trigger centriole replication. Negatively regulates the activation of EIF2AK2/PKR and suppresses apoptosis through inhibition of EIF2AK2/PKR autophosphorylation. Antagonizes the inhibitory effect of ATF5 on cell proliferation and relieves ATF5-induced G2/M blockade (PubMed:22528486). In complex with MYC enhances the transcription of MYC target genes (PubMed:25956029).',NULL,NULL,NULL,NULL,NULL),(16098,'UniProt Function',NULL,19169,NULL,'As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.',NULL,NULL,NULL,NULL,NULL),(16099,'UniProt Function',NULL,19169,NULL,'Suppresses Src-dependent tyrosine phosphorylation and activation of PDPK1 and its downstream signaling. Down-regulates PDPK1 kinase activity by interfering with tyrosine phosphorylation at \'Tyr-9\', \'Tyr-373\' and \'Tyr-376\' residues. May act as a tumor suppressor. Suppresses cell growth and enhances sensitivity to various anticancer drugs.',NULL,NULL,NULL,NULL,NULL),(16100,'UniProt Function',NULL,19173,NULL,'G-protein coupled receptor for neuropeptide S (NPS) (PubMed:16790440). Promotes mobilization of intracellular Ca(2+) stores (PubMed:16790440). Inhibits cell growth in response to NPS binding (PubMed:15947423). Involved in pathogenesis of asthma and other IgE-mediated diseases.',NULL,NULL,NULL,NULL,NULL),(16101,'UniProt Function',NULL,19174,NULL,'May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses.',NULL,NULL,NULL,NULL,NULL),(16102,'UniProt Function',NULL,19175,NULL,'Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is NPY > [Pro-34] PYY, PYY and [Leu-31, Pro-34] NPY > NPY (2-36) > [Ile-31, Gln-34] PP and PYY (3-36) > PP > NPY free acid.',NULL,NULL,NULL,NULL,NULL),(16103,'UniProt Function',NULL,19176,NULL,'Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum.',NULL,NULL,NULL,NULL,NULL),(16104,'UniProt Function',NULL,19177,NULL,'Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.',NULL,NULL,NULL,NULL,NULL),(16105,'UniProt Function',NULL,19178,NULL,'Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1), to Wnt proteins. Serine palmitoleylation of WNT proteins is required for efficient binding to frizzled receptors.',NULL,NULL,NULL,NULL,NULL),(16106,'UniProt Function',NULL,19179,NULL,'Implicated in oncotic cell death, characterized by cell swelling, organelle swelling, vacuolization and increased membrane permeability.',NULL,NULL,NULL,NULL,NULL),(16107,'UniProt Function',NULL,19180,NULL,'Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication.',NULL,NULL,NULL,NULL,NULL),(16108,'UniProt Function',NULL,19181,NULL,'Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. May also promote the heterodimerization with the EGF receptor.',NULL,NULL,NULL,NULL,NULL),(16109,'UniProt Function',NULL,19183,NULL,'Down-regulates transcriptional activation by nuclear receptors such as NR1F2.',NULL,NULL,NULL,NULL,NULL),(16110,'UniProt Function',NULL,19184,NULL,'Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). The enzyme also phosphorylates the antitumor drugs tiazofurin and 3-deazaguanosine.',NULL,NULL,NULL,NULL,NULL),(16111,'UniProt Function',NULL,19185,NULL,'Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). Reduces laminin matrix deposition and cell adhesion to laminin, but not to fibronectin. Involved in the regulation of PXN at the protein level and of PXN tyrosine phosphorylation. May play a role in the regulation of terminal myogenesis.',NULL,NULL,NULL,NULL,NULL),(16112,'UniProt Function',NULL,19186,NULL,'Induces cell attachment and spreading and plays a role in cell adhesion (PubMed:12235007). Enhances incorporation of BMP1 in the fibronectin matrix of connective tissues, and subsequent proteolytic activation of lysyl oxidase LOX (By similarity).',NULL,NULL,NULL,NULL,NULL),(16113,'UniProt Function',NULL,19187,NULL,'Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling.',NULL,NULL,NULL,NULL,NULL),(16114,'UniProt Function',NULL,19189,NULL,'Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration (PubMed:25961457). Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes (PubMed:25961457). Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1 (PubMed:25961457). Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma. Regulates Rac signaling pathways (PubMed:25961457).',NULL,NULL,NULL,NULL,NULL),(16115,'UniProt Function',NULL,19190,NULL,'Probable methyltransferase.',NULL,NULL,NULL,NULL,NULL),(16116,'UniProt Function',NULL,19191,NULL,'Probable methyltransferase.',NULL,NULL,NULL,NULL,NULL),(16117,'UniProt Function',NULL,19192,NULL,'Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at \'Lys-120\' and \'Lys-382\' and controls its transcriptional activity via association with PML.',NULL,NULL,NULL,NULL,NULL),(16118,'UniProt Function',NULL,19193,NULL,'Histone acetyltransferase which may be involved in transcriptional activation. May influence the function of ATM. As part of the MSL complex it is involved in acetylation of nucleosomal histone H4 producing specifically H4K16ac. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. That activity is less specific than the one of the MSL complex. Can also acetylate TP53/p53 at \'Lys-120\'.',NULL,NULL,NULL,NULL,NULL),(16119,'UniProt Function',NULL,19196,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of neural crest specification (PubMed:26399832). The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1: monoubiquitination promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).',NULL,NULL,NULL,NULL,NULL),(16120,'UniProt Function',NULL,19199,NULL,'Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.',NULL,NULL,NULL,NULL,NULL),(16121,'UniProt Function',NULL,19200,NULL,'Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(16122,'UniProt Function',NULL,19201,NULL,'Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates CTNNB1 at \'Ser-45\'. May phosphorylate PER1 and PER2. May play a role in segregating chromosomes during mitosis (PubMed:11955436, PubMed:1409656, PubMed:18305108). May play a role in keratin cytoskeleton disassembly and thereby, it may regulate epithelial cell migration (PubMed:23902688).',NULL,NULL,NULL,NULL,NULL),(16123,'UniProt Function',NULL,19202,NULL,'RNA binding protein, may be involved in post-transcriptional regulatory mechanisms.',NULL,NULL,NULL,NULL,NULL),(16124,'UniProt Function',NULL,19205,NULL,'Probably functions as a guanine nucleotide exchange factor.',NULL,NULL,NULL,NULL,NULL),(16125,'UniProt Function',NULL,19206,NULL,'May participate in the nuclear signaling of EGFR and MAPK1/ERK2. May a have a role in metastasis.',NULL,NULL,NULL,NULL,NULL),(16126,'UniProt Function',NULL,19207,NULL,'Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN.',NULL,NULL,NULL,NULL,NULL),(16127,'UniProt Function',NULL,19208,NULL,'Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, regulates transcription activators activity, cell cycle, hormone production, cell differentiation, actin filament organization and neurite outgrowth. Recognizes the substrate consensus sequence [MVLIF]-x-R-x(2)-[ST]-x(3)-[MVLIF]. Regulates axonal extension and growth cone motility in hippocampal and cerebellar nerve cells. Upon NMDA receptor-mediated Ca(2+) elevation, promotes dendritic growth in hippocampal neurons and is essential in synapses for full long-term potentiation (LTP) and ERK2-dependent translational activation. Downstream of NMDA receptors, promotes the formation of spines and synapses in hippocampal neurons by phosphorylating ARHGEF7/BETAPIX on \'Ser-694\', which results in the enhancement of ARHGEF7 activity and activation of RAC1. Promotes neuronal differentiation and neurite outgrowth by activation and phosphorylation of MARK2 on \'Ser-91\', \'Ser-92\', \'Ser-93\' and \'Ser-294\'. Promotes nuclear export of HDAC5 and binding to 14-3-3 by phosphorylation of \'Ser-259\' and \'Ser-498\' in the regulation of muscle cell differentiation. Regulates NUMB-mediated endocytosis by phosphorylation of NUMB on \'Ser-276\' and \'Ser-295\'. Involved in the regulation of basal and estrogen-stimulated migration of medulloblastoma cells through ARHGEF7/BETAPIX phosphorylation (By similarity). Is required for proper activation of cyclin-D1/CDK4 complex during G1 progression in diploid fibroblasts. Plays a role in K(+) and ANG2-mediated regulation of the aldosterone synthase (CYP11B2) to produce aldosterone in the adrenal cortex. Phosphorylates EIF4G3/eIF4GII. In vitro phosphorylates CREB1, ATF1, CFTR, MYL9 and SYN1/synapsin I.',NULL,NULL,NULL,NULL,NULL),(16128,'UniProt Function',NULL,19209,NULL,'Mediates voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. The channel activity is up-regulated by cAMP.',NULL,NULL,NULL,NULL,NULL),(16129,'UniProt Function',NULL,19210,NULL,'Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in synaptic plasticity, neurotransmitter release and long-term potentiation. Member of the NMDAR signaling complex in excitatory synapses, it regulates NMDAR-dependent potentiation of the AMPAR and therefore excitatory synaptic transmission (By similarity). Regulates dendritic spine development (PubMed:28130356). Also regulates the migration of developing neurons (PubMed:29100089). Phosphorylates the transcription factor FOXO3 to activate its transcriptional activity (PubMed:23805378).',NULL,NULL,NULL,NULL,NULL),(16130,'UniProt Function',NULL,19211,NULL,'Calcium/calmodulin-dependent protein kinase involved in the regulation of Ca(2+) homeostatis and excitation-contraction coupling (ECC) in heart by targeting ion channels, transporters and accessory proteins involved in Ca(2+) influx into the myocyte, Ca(2+) release from the sarcoplasmic reticulum (SR), SR Ca(2+) uptake and Na(+) and K(+) channel transport. Targets also transcription factors and signaling molecules to regulate heart function. In its activated form, is involved in the pathogenesis of dilated cardiomyopathy and heart failure. Contributes to cardiac decompensation and heart failure by regulating SR Ca(2+) release via direct phosphorylation of RYR2 Ca(2+) channel on \'Ser-2808\'. In the nucleus, phosphorylates the MEF2 repressor HDAC4, promoting its nuclear export and binding to 14-3-3 protein, and expression of MEF2 and genes involved in the hypertrophic program. Is essential for left ventricular remodeling responses to myocardial infarction. In pathological myocardial remodeling acts downstream of the beta adrenergic receptor signaling cascade to regulate key proteins involved in ECC. Regulates Ca(2+) influx to myocytes by binding and phosphorylating the L-type Ca(2+) channel subunit beta-2 CACNB2. In addition to Ca(2+) channels, can target and regulate the cardiac sarcolemmal Na(+) channel Nav1.5/SCN5A and the K+ channel Kv4.3/KCND3, which contribute to arrhythmogenesis in heart failure. Phosphorylates phospholamban (PLN/PLB), an endogenous inhibitor of SERCA2A/ATP2A2, contributing to the enhancement of SR Ca(2+) uptake that may be important in frequency-dependent acceleration of relaxation (FDAR) and maintenance of contractile function during acidosis. May participate in the modulation of skeletal muscle function in response to exercise, by regulating SR Ca(2+) transport through phosphorylation of PLN/PLB and triadin, a ryanodine receptor-coupling factor.',NULL,NULL,NULL,NULL,NULL),(16131,'UniProt Function',NULL,19212,NULL,'Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplasmic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine and synapse formation and neuronal plasticity. In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of the ryanodine receptor-coupling factor triadin. In neurons, may participate in the promotion of dendritic spine and synapse formation and maintenance of synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning.',NULL,NULL,NULL,NULL,NULL),(16132,'UniProt Function',NULL,19213,NULL,'Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as probable substrate-specific adapter for a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex towards HDAC1. Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcription factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. When knock-down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade.',NULL,NULL,NULL,NULL,NULL),(16133,'UniProt Function',NULL,19214,NULL,'Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity).',NULL,NULL,NULL,NULL,NULL),(16134,'UniProt Function',NULL,19216,NULL,'During embryonic development, interferes with neural crest formation (By similarity). Inhibits AP2 transcriptional activity by interaction with its activation domain.',NULL,NULL,NULL,NULL,NULL),(16135,'UniProt Function',NULL,19217,NULL,'Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity).',NULL,NULL,NULL,NULL,NULL),(16136,'UniProt Function',NULL,19218,NULL,'Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation (PubMed:25270598). May be involved in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243).',NULL,NULL,NULL,NULL,NULL),(16137,'UniProt Function',NULL,19221,NULL,'Promotes the phosphorylation of AKT family members.',NULL,NULL,NULL,NULL,NULL),(16138,'UniProt Function',NULL,19222,NULL,'Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblastoma (MDB) (PubMed:21472142).',NULL,NULL,NULL,NULL,NULL),(16139,'UniProt Function',NULL,19224,NULL,'Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Regulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND1/Kv4.1 and KCND2/Kv4.2 currents. Increases the presence of KCND2 at the cell surface.',NULL,NULL,NULL,NULL,NULL),(16140,'UniProt Function',NULL,19225,NULL,'Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved in KCND2 and KCND3 trafficking to the cell surface. May be required for the expression of I(To) currents in the heart (By similarity).',NULL,NULL,NULL,NULL,NULL),(16141,'UniProt Function',NULL,19226,NULL,'Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates KCND2 channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner (PubMed:11847232, PubMed:18957440, PubMed:23576435). Modulates KCND3/Kv4.3 currents (PubMed:23576435). Isoform 4 does not increase KCND2 expression at the cell membrane (PubMed:18957440). Isoform 4 retains KCND3 in the endoplasmic reticulum and negatively regulates its expression at the cell membrane.',NULL,NULL,NULL,NULL,NULL),(16142,'UniProt Function',NULL,19227,NULL,'May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules.',NULL,NULL,NULL,NULL,NULL),(16143,'UniProt Function',NULL,19228,NULL,'This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.',NULL,NULL,NULL,NULL,NULL),(16144,'UniProt Function',NULL,19229,NULL,'Inward rectifying potassium channel that is activated by phosphatidylinositol 4,5-bisphosphate and that probably participates in controlling the resting membrane potential in electrically excitable cells. Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.',NULL,NULL,NULL,NULL,NULL),(16145,'UniProt Function',NULL,19230,NULL,'Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium.',NULL,NULL,NULL,NULL,NULL),(16146,'UniProt Function',NULL,19231,NULL,'Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient.',NULL,NULL,NULL,NULL,NULL),(16147,'UniProt Function',NULL,19232,NULL,'Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:19912772, PubMed:8495559). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:8495559). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA4 forms a potassium channel that opens in response to membrane depolarization, followed by rapid spontaneous channel closure (PubMed:19912772, PubMed:8495559). Likewise, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed:17156368).',NULL,NULL,NULL,NULL,NULL),(16148,'UniProt Function',NULL,19233,NULL,'Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivity of the KCNMA1 channel, but with fast deactivation kinetics. May decrease KCNMA1 channel openings at low calcium concentrations but increases channel openings at high calcium concentrations. Makes KCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxin concentrations.',NULL,NULL,NULL,NULL,NULL),(16149,'UniProt Function',NULL,19234,NULL,'Has intrinsic E3 ubiquitin ligase activity and promotes ubiquitination.',NULL,NULL,NULL,NULL,NULL),(16150,'UniProt Function',NULL,19235,NULL,'Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the cardiovascular system. Prevents aberrant action potential firing and regulates neuronal output. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:19912772, PubMed:8495559, PubMed:11211111, PubMed:23769686). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNA7, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:8495559, PubMed:20220134). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation of delayed rectifier potassium channels. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA2 forms a delayed-rectifier potassium channel that opens in response to membrane depolarization, followed by slow spontaneous channel closure (PubMed:19912772, PubMed:23769686). In contrast, a heteromultimer formed by KCNA2 and KCNA4 shows rapid inactivation (PubMed:8495559). Regulates neuronal excitability and plays a role as pacemaker in the regulation of neuronal action potentials (By similarity). KCNA2-containing channels play a presynaptic role and prevent hyperexcitability and aberrant action potential firing (By similarity). Response to toxins that are selective for KCNA2-containing potassium channels suggests that in Purkinje cells, dendritic subthreshold KCNA2-containing potassium channels prevent random spontaneous calcium spikes, suppressing dendritic hyperexcitability without hindering the generation of somatic action potentials, and thereby play an important role in motor coordination (By similarity). Plays a role in the induction of long-term potentiation of neuron excitability in the CA3 layer of the hippocampus (By similarity). May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) (By similarity). Contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Reduced KCNA2 expression plays a role in the perception of neuropathic pain after peripheral nerve injury, but not acute pain (By similarity). Plays a role in the regulation of the time spent in non-rapid eye movement (NREM) sleep (By similarity).',NULL,NULL,NULL,NULL,NULL),(16151,'UniProt Function',NULL,19236,NULL,'Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Contributes to the regulation of the fast action potential repolarization and in sustained high-frequency firing in neurons of the central nervous system. Homotetramer channels mediate delayed-rectifier voltage-dependent potassium currents that activate rapidly at high-threshold voltages and inactivate slowly. Forms tetrameric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:15709110). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNC1, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel. Channel properties may be modulated either by the association with ancillary subunits, such as KCNE1, KCNE2 or KCNE3 or indirectly by nitric oxide (NO) through a cGMP- and PKG-mediated signaling cascade, slowing channel activation and deactivation of delayed rectifier potassium channels (By similarity). Contributes to fire sustained trains of very brief action potentials at high frequency in retinal ganglion cells, thalamocortical and suprachiasmatic nucleus (SCN) neurons and in hippocampal and neocortical interneurons (PubMed:15709110). Sustained maximal action potential firing frequency in inhibitory hippocampal interneurons is negatively modulated by histamine H2 receptor activation in a cAMP- and protein kinase (PKA) phosphorylation-dependent manner. Plays a role in maintaining the fidelity of synaptic transmission in neocortical GABAergic interneurons by generating action potential (AP) repolarization at nerve terminals, thus reducing spike-evoked calcium influx and GABA neurotransmitter release. Required for long-range synchronization of gamma oscillations over distance in the neocortex. Contributes to the modulation of the circadian rhythm of spontaneous action potential firing in suprachiasmatic nucleus (SCN) neurons in a light-dependent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(16152,'UniProt Function',NULL,19237,NULL,'Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. The channel displays rapid activation and inactivation kinetics (PubMed:10712820, PubMed:26997484, PubMed:22289912, PubMed:23734863, PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:25756792). It plays a role in the regulation of the frequency, shape and duration of action potentials in Purkinje cells. Required for normal survival of cerebellar neurons, probably via its role in regulating the duration and frequency of action potentials that in turn regulate the activity of voltage-gated Ca(2+) channels and cellular Ca(2+) homeostasis (By similarity). Required for normal motor function (PubMed:23734863, PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:25756792). Plays a role in the reorganization of the cortical actin cytoskeleton and the formation of actin veil structures in neuronal growth cones via its interaction with HAX1 and the Arp2/3 complex (PubMed:26997484).',NULL,NULL,NULL,NULL,NULL),(16153,'UniProt Function',NULL,19238,NULL,'Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 and KCNB2.',NULL,NULL,NULL,NULL,NULL),(16154,'UniProt Function',NULL,19239,NULL,'Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity).',NULL,NULL,NULL,NULL,NULL),(16155,'UniProt Function',NULL,19240,NULL,'Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. Activated by high intracellular sodium and chloride levels (PubMed:14684870, PubMed:16687497, PubMed:29069600). Channel activity is inhibited by ATP and by inhalation anesthetics, such as isoflurane (PubMed:16687497) (By similarity). Inhibited upon stimulation of G-protein coupled receptors, such as CHRM1 and GRM1 (PubMed:16687497).',NULL,NULL,NULL,NULL,NULL),(16156,'UniProt Function',NULL,19241,NULL,'Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+). May represent the primary spermatozoan K(+) current. In contrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+). Critical for fertility. May play an important role in sperm osmoregulation required for the acquisition of normal morphology and motility when faced with osmotic challenges, such as those experienced after mixing with seminal fluid and entry into the vagina.',NULL,NULL,NULL,NULL,NULL),(16157,'UniProt Function',NULL,19242,NULL,'Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity).',NULL,NULL,NULL,NULL,NULL),(16158,'UniProt Function',NULL,19243,NULL,'Mitochondrial iron transporter that mediates iron uptake. Probably required for heme synthesis of hemoproteins and Fe-S cluster assembly in non-erythroid cells. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity).',NULL,NULL,NULL,NULL,NULL),(16159,'UniProt Function',NULL,19244,NULL,'May play a role in eye development.',NULL,NULL,NULL,NULL,NULL),(16160,'UniProt Function',NULL,19245,NULL,'Cation-dependent lipid transporter that specifically mediates export of sphingosine-1-phosphate in red blood cells and platelets (PubMed:29045386). Sphingosine-1-phosphate is a signaling sphingolipid and its export from red blood cells into in the plasma is required for red blood cell morphology (By similarity). Does not transport lysophosphatidylcholine (LPC) (By similarity).',NULL,NULL,NULL,NULL,NULL),(16161,'UniProt Function',NULL,19248,NULL,'Histone demethylase that demethylates \'Lys-4\' of histone H3, a specific tag for epigenetic transcriptional activation, thereby acting as a corepressor. Required for de novo DNA methylation of a subset of imprinted genes during oogenesis. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Demethylates both mono- and di-methylated \'Lys-4\' of histone H3. Has no effect on tri-methylated \'Lys-4\', mono-, di- or tri-methylated \'Lys-9\', mono-, di- or tri-methylated \'Lys-27\', mono-, di- or tri-methylated \'Lys-36\' of histone H3, or on mono-, di- or tri-methylated \'Lys-20\' of histone H4.',NULL,NULL,NULL,NULL,NULL),(16162,'UniProt Function',NULL,19249,NULL,'Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3.',NULL,NULL,NULL,NULL,NULL),(16163,'UniProt Function',NULL,19251,NULL,'Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites.',NULL,NULL,NULL,NULL,NULL),(16164,'UniProt Function',NULL,19252,NULL,'Atypical kinesin that plays a key role in enteric neuron development. Acts by repressing a cell growth signaling pathway in the enteric nervous system development, possibly via its interaction with GRB2 that prevents GRB2-binding to SHC, thereby attenating the GDNF-Ret signaling. Binds to microtubules but lacks microtubule-based motility due to the absence of ATPase activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(16165,'UniProt Function',NULL,19253,NULL,'Microtubule motor protein that binds to microtubules with high affinity through each tubulin heterodimer and has an ATPase activity (By similarity). Plays a role in many processes like cell division, cytokinesis and also in cell proliferation and apoptosis (PubMed:24784001, PubMed:16648480). During cytokinesis, targets to central spindle and midbody through its interaction with PRC1 and CIT respectively (PubMed:16431929). Regulates cell growth through regulation of cell cycle progression and cytokinesis (PubMed:24854087). During cell cycle progression acts through SCF-dependent proteasomal ubiquitin-dependent protein catabolic process which controls CDKN1B degradation, resulting in positive regulation of cyclins, including CCNE1, CCND1 and CCNB1 (PubMed:24854087). During late neurogenesis, regulates the cerebellar, cerebral cortex and olfactory bulb development through regulation of apoptosis, cell proliferation and cell division (By similarity). Also is required for chromosome congression and alignment during mitotic cell cycle process (PubMed:15843429). Regulates cell spreading, focal adhesion dynamics, and cell migration through its interaction with RADIL resulting in regulation of RAP1A-mediated inside-out integrin activation by tethering RADIL on microtubules (PubMed:23209302).',NULL,NULL,NULL,NULL,NULL),(16166,'UniProt Function',NULL,19255,NULL,'Required to maintain individual mitotic chromosomes dispersed in the cytoplasm following nuclear envelope disassembly (PubMed:27362226). Associates with the surface of the mitotic chromosome, the perichromosomal layer, and covers a substantial fraction of the chromosome surface (PubMed:27362226). Prevents chromosomes from collapsing into a single chromatin mass by forming a steric and electrostatic charge barrier: the protein has a high net electrical charge and acts as a surfactant, dispersing chromosomes and enabling independent chromosome motility (PubMed:27362226). Binds DNA, with a preference for supercoiled DNA and AT-rich DNA (PubMed:10878551). Does not contribute to the internal structure of mitotic chromosomes (By similarity). May play a role in chromatin organization (PubMed:24867636). It is however unclear whether it plays a direct role in chromatin organization or whether it is an indirect consequence of its function in maintaining mitotic chromosomes dispersed (Probable).',NULL,NULL,NULL,NULL,NULL),(16167,'UniProt Function',NULL,19256,NULL,'In complex with KIF2C, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells. Its major role may be to transport KIF2C and/or MAPRE1 along microtubules.',NULL,NULL,NULL,NULL,NULL),(16168,'UniProt Function',NULL,19257,NULL,'Plus-end-directed motor enzyme that is required for completion of cytokinesis (PubMed:11470801, PubMed:12740395). Required for proper midbody organization and abscission in polarized cortical stem cells. Plays a role in the regulation of neuronal polarization by mediating the transport of specific cargos. Participates in the mobilization of SHTN1 and in the accumulation of PIP3 in the growth cone of primary hippocampal neurons in a tubulin and actin-dependent manner. In the developing telencephalon, cooperates with SHTN1 to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in cerebral cortex growth (By similarity). Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression (PubMed:17409436).',NULL,NULL,NULL,NULL,NULL),(16169,'UniProt Function',NULL,19258,NULL,'Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment.',NULL,NULL,NULL,NULL,NULL),(16170,'UniProt Function',NULL,19259,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).',NULL,NULL,NULL,NULL,NULL),(16171,'UniProt Function',NULL,19260,NULL,'Cytokine that promotes the proliferation, survival and differentiation of monocytes and macrophages. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, and in the regulation of bone resorption. Signaling via CSF1R and its downstream effectors stimulates phosphorylation of MAPK1/ERK2 AND MAPK3/ERK1.',NULL,NULL,NULL,NULL,NULL),(16172,'UniProt Function',NULL,19261,NULL,'Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells.',NULL,NULL,NULL,NULL,NULL),(16173,'UniProt Function',NULL,19262,NULL,'Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC.',NULL,NULL,NULL,NULL,NULL),(16174,'UniProt Function',NULL,19262,NULL,'Associates with IL23A to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak-Stat signaling cascade, stimulates memory rather than naive T-cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(16175,'UniProt Function',NULL,19263,NULL,'This is a receptor for interleukin-21.',NULL,NULL,NULL,NULL,NULL),(16176,'UniProt Function',NULL,19264,NULL,'IL-8 is a chemotactic factor that attracts neutrophils, basophils, and T-cells, but not monocytes. It is also involved in neutrophil activation. It is released from several cell types in response to an inflammatory stimulus. IL-8(6-77) has a 5-10-fold higher activity on neutrophil activation, IL-8(5-77) has increased activity on neutrophil activation and IL-8(7-77) has a higher affinity to receptors CXCR1 and CXCR2 as compared to IL-8(1-77), respectively.',NULL,NULL,NULL,NULL,NULL),(16177,'UniProt Function',NULL,19266,NULL,'Associates with IL12B to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak-Stat signaling cascade, stimulates memory rather than naive T-cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(16178,'UniProt Function',NULL,19268,NULL,'Probable serine protease inhibitor.',NULL,NULL,NULL,NULL,NULL),(16179,'UniProt Function',NULL,19269,NULL,'Serine protease inhibitor which exhibits anti-trypsin activity (PubMed:7142173). In the pancreas, protects against trypsin-catalyzed premature activation of zymogens (By similarity).',NULL,NULL,NULL,NULL,NULL),(16180,'UniProt Function',NULL,19269,NULL,'In the male reproductive tract, binds to sperm heads where it modulates sperm capacitance by inhibiting calcium uptake and nitrogen oxide (NO) production.',NULL,NULL,NULL,NULL,NULL),(16181,'UniProt Function',NULL,19270,NULL,'Required for axon extension during neural development.',NULL,NULL,NULL,NULL,NULL),(16182,'UniProt Function',NULL,19272,NULL,'Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle.',NULL,NULL,NULL,NULL,NULL),(16183,'UniProt Function',NULL,19273,NULL,'Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).',NULL,NULL,NULL,NULL,NULL),(16184,'UniProt Function',NULL,19274,NULL,'Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.',NULL,NULL,NULL,NULL,NULL),(16185,'UniProt Function',NULL,19275,NULL,'Blocks interferon-dependent interphase and stimulates DNA synthesis in cells. Involved in the translational regulation of the human papillomavirus type 16 E7 mRNA (HPV16 E7).',NULL,NULL,NULL,NULL,NULL),(16186,'UniProt Function',NULL,19276,NULL,'Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle.',NULL,NULL,NULL,NULL,NULL),(16187,'UniProt Function',NULL,19277,NULL,'Possible role in axon guidance through interaction with RTN4R.',NULL,NULL,NULL,NULL,NULL),(16188,'UniProt Function',NULL,19277,NULL,'(Microbial infection) Acts as a receptor for adeno-associated virus and is involved in adeno-associated virus infection through endocytosis system.',NULL,NULL,NULL,NULL,NULL),(16189,'UniProt Function',NULL,19278,NULL,'Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities.',NULL,NULL,NULL,NULL,NULL),(16190,'UniProt Function',NULL,19279,NULL,'Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates only AMP when using GTP as phosphate donor. Also displays broad nucleoside diphosphate kinase activity.',NULL,NULL,NULL,NULL,NULL),(16191,'UniProt Function',NULL,19280,NULL,'Broad-specificity nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. AMP and dAMP are the preferred substrates, but CMP and dCMP are also good substrates. IMP is phosphorylated to a much lesser extent. All nucleoside triphosphates ATP, GTP, UTP, CTP, dATP, dCTP, dGTP, and TTP are accepted as phosphate donors. CTP is the best phosphate donor, followed by UTP, ATP, GTP and dCTP. May have a role in nuclear energy homeostasis. Has also ATPase activity. May be involved in regulation of Cajal body (CB) formation.',NULL,NULL,NULL,NULL,NULL),(16192,'UniProt Function',NULL,19281,NULL,'Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity. Involved in maintaining ciliary structure and function.',NULL,NULL,NULL,NULL,NULL),(16193,'UniProt Function',NULL,19282,NULL,'Involved in transcription regulation by sequestering in the cytoplasm nuclear receptor coactivators such as NCOA1, NCOA2 and NCOA3 (PubMed:17476305). Involved in regulation of caspase-independent apoptosis by sequestering the proapoptotic factor AIFM1 in mitochondria (PubMed:22371500). Pro-apoptotic stimuli can induce its proteasomal degradation allowing the translocation of AIFM1 to the nucleus to induce apoptosis (PubMed:22371500). Involved in the negative control of vitamin D receptor signaling pathway (PubMed:24671081). Involved in actin stress fibers formation through its interaction with ARHGDIA and the regulation of the Rho signaling pathway (PubMed:17996375, PubMed:25961457). May thereby play a role in cell adhesion and migration, regulating for instance podocytes migration during development of the kidney (PubMed:25961457). Through the Rho signaling pathway may also regulate cell proliferation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16194,'UniProt Function',NULL,19283,NULL,'May be involved in the control of cytoskeleton formation by regulating actin polymerization.',NULL,NULL,NULL,NULL,NULL),(16195,'UniProt Function',NULL,19284,NULL,'Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:12130714). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (PubMed:12130714). Homotetrameric channels display rapid activation and slow inactivation (PubMed:8505626, PubMed:12130714). May play a role in regulating the secretion of insulin in normal pancreatic islets. Isoform 2 exhibits a voltage-dependent recovery from inactivation and an excessive cumulative inactivation (PubMed:11524461).',NULL,NULL,NULL,NULL,NULL),(16196,'UniProt Function',NULL,19285,NULL,'Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX).',NULL,NULL,NULL,NULL,NULL),(16197,'UniProt Function',NULL,19286,NULL,'Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Acts as a negative regulator that confers rapid and complete inactivation of KCNMA1 channel complex. May participate in KCNMA1 inactivation in chromaffin cells of the adrenal gland or in hippocampal CA1 neurons.',NULL,NULL,NULL,NULL,NULL),(16198,'UniProt Function',NULL,19287,NULL,'Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in the pancreas and cardiovascular system. Contributes to the regulation of the action potential (AP) repolarization, duration and frequency of repetitive AP firing in neurons, muscle cells and endocrine cells and plays a role in homeostatic attenuation of electrical excitability throughout the brain (PubMed:23161216). Plays also a role in the regulation of exocytosis independently of its electrical function (By similarity). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization (PubMed:8081723, PubMed:1283219, PubMed:10484328, PubMed:12560340, PubMed:19074135, PubMed:19717558, PubMed:24901643). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB2; channel properties depend on the type of alpha subunits that are part of the channel (By similarity). Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNF1, KCNG1, KCNG3, KCNG4, KCNH1, KCNH2, KCNS1, KCNS2, KCNS3 and KCNV1, creating a functionally diverse range of channel complexes (PubMed:10484328, PubMed:11852086, PubMed:12060745, PubMed:19074135, PubMed:19717558, PubMed:24901643). Heterotetrameric channel activity formed with KCNS3 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity). Channel properties are also modulated by cytoplasmic ancillary beta subunits such as AMIGO1, KCNE1, KCNE2 and KCNE3, slowing activation and inactivation rate of the delayed rectifier potassium channels (By similarity). In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Major contributor to the slowly inactivating delayed-rectifier voltage-gated potassium current in neurons of the central nervous system, sympathetic ganglion neurons, neuroendocrine cells, pancreatic beta cells, cardiomyocytes and smooth muscle cells. Mediates the major part of the somatodendritic delayed-rectifier potassium current in hippocampal and cortical pyramidal neurons and sympathetic superior cervical ganglion (CGC) neurons that acts to slow down periods of firing, especially during high frequency stimulation. Plays a role in the induction of long-term potentiation (LTP) of neuron excitability in the CA3 layer of the hippocampus (By similarity). Contributes to the regulation of glucose-induced action potential amplitude and duration in pancreatic beta cells, hence limiting calcium influx and insulin secretion (PubMed:23161216). Plays a role in the regulation of resting membrane potential and contraction in hypoxia-treated pulmonary artery smooth muscle cells. May contribute to the regulation of the duration of both the action potential of cardiomyocytes and the heart ventricular repolarization QT interval. Contributes to the pronounced pro-apoptotic potassium current surge during neuronal apoptotic cell death in response to oxidative injury. May confer neuroprotection in response to hypoxia/ischemic insults by suppressing pyramidal neurons hyperexcitability in hippocampal and cortical regions (By similarity). Promotes trafficking of KCNG3, KCNH1 and KCNH2 to the cell surface membrane, presumably by forming heterotetrameric channels with these subunits (PubMed:12060745). Plays a role in the calcium-dependent recruitment and release of fusion-competent vesicles from the soma of neurons, neuroendocrine and glucose-induced pancreatic beta cells by binding key components of the fusion machinery in a pore-independent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(16199,'UniProt Function',NULL,19288,NULL,'Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney (PubMed:19903818). Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability (PubMed:17156368). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:19912772). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNA7, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:12077175, PubMed:17156368). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation of delayed rectifier potassium channels (PubMed:12077175, PubMed:17156368). In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA1 forms a delayed-rectifier potassium channel that opens in response to membrane depolarization, followed by slow spontaneous channel closure (PubMed:19912772, PubMed:19968958, PubMed:19307729, PubMed:19903818). In contrast, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed:17156368). Regulates neuronal excitability in hippocampus, especially in mossy fibers and medial perforant path axons, preventing neuronal hyperexcitability. Response to toxins that are selective for KCNA1, respectively for KCNA2, suggests that heteromeric potassium channels composed of both KCNA1 and KCNA2 play a role in pacemaking and regulate the output of deep cerebellar nuclear neurons (By similarity). May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) release (By similarity). Plays a role in regulating the generation of action potentials and preventing hyperexcitability in myelinated axons of the vagus nerve, and thereby contributes to the regulation of heart contraction (By similarity). Required for normal neuromuscular responses (PubMed:11026449, PubMed:17136396). Regulates the frequency of neuronal action potential firing in response to mechanical stimuli, and plays a role in the perception of pain caused by mechanical stimuli, but does not play a role in the perception of pain due to heat stimuli (By similarity). Required for normal responses to auditory stimuli and precise location of sound sources, but not for sound perception (By similarity). The use of toxins that block specific channels suggest that it contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Required for normal postnatal brain development and normal proliferation of neuronal precursor cells in the brain (By similarity). Plays a role in the reabsorption of Mg(2+) in the distal convoluted tubules in the kidney and in magnesium ion homeostasis, probably via its effect on the membrane potential (PubMed:23903368, PubMed:19307729).',NULL,NULL,NULL,NULL,NULL),(16200,'UniProt Function',NULL,19289,NULL,'Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and smooth muscle cells. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization. Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB1; channel properties depend on the type of alpha subunits that are part of the channel. Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNS1 and KCNS2, creating a functionally diverse range of channel complexes. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Contributes to the delayed-rectifier voltage-gated potassium current in cortical pyramidal neurons and smooth muscle cells.',NULL,NULL,NULL,NULL,NULL),(16201,'UniProt Function',NULL,19290,NULL,'Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability.',NULL,NULL,NULL,NULL,NULL),(16202,'UniProt Function',NULL,19291,NULL,'This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient.',NULL,NULL,NULL,NULL,NULL),(16203,'UniProt Function',NULL,19292,NULL,'Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits.',NULL,NULL,NULL,NULL,NULL),(16204,'UniProt Function',NULL,19293,NULL,'Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Mediates the major part of the dendritic A-type current I(SA) in brain neurons (By similarity). This current is activated at membrane potentials that are below the threshold for action potentials. It regulates neuronal excitability, prolongs the latency before the first spike in a series of action potentials, regulates the frequency of repetitive action potential firing, shortens the duration of action potentials and regulates the back-propagation of action potentials from the neuronal cell body to the dendrites. Contributes to the regulation of the circadian rhythm of action potential firing in suprachiasmatic nucleus neurons, which regulates the circadian rhythm of locomotor activity (By similarity). Functions downstream of the metabotropic glutamate receptor GRM5 and plays a role in neuronal excitability and in nociception mediated by activation of GRM5 (By similarity). Mediates the transient outward current I(to) in rodent heart left ventricle apex cells, but not in human heart, where this current is mediated by another family member. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient (PubMed:10551270, PubMed:15454437, PubMed:14695263, PubMed:14623880, PubMed:14980201, PubMed:16934482, PubMed:24811166, PubMed:24501278). The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:11507158). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCND2 and KCND3; channel properties depend on the type of pore-forming alpha subunits that are part of the channel. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes. Interaction with specific isoforms of the regulatory subunits KCNIP1, KCNIP2, KCNIP3 or KCNIP4 strongly increases expression at the cell surface and thereby increases channel activity; it modulates the kinetics of channel activation and inactivation, shifts the threshold for channel activation to more negative voltage values, shifts the threshold for inactivation to less negative voltages and accelerates recovery after inactivation (PubMed:15454437, PubMed:14623880, PubMed:14980201, PubMed:19171772, PubMed:24501278, PubMed:24811166). Likewise, interaction with DPP6 or DPP10 promotes expression at the cell membrane and regulates both channel characteristics and activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(16205,'UniProt Function',NULL,19294,NULL,'Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules (PubMed:10935626). Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(16206,'UniProt Function',NULL,19295,NULL,'Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 (PubMed:10484328). Heterotetrameric channel activity formed with KCNB1 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(16207,'UniProt Function',NULL,19297,NULL,'Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate the channel activity of KCNB1, KCNB2, KCNC4 and KCND1, possibly by trapping them in intracellular membranes.',NULL,NULL,NULL,NULL,NULL),(16208,'UniProt Function',NULL,19298,NULL,'Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values.',NULL,NULL,NULL,NULL,NULL),(16209,'UniProt Function',NULL,19299,NULL,'Confers cellular resistance to apoptosis induced by the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. May act as an efflux pump.',NULL,NULL,NULL,NULL,NULL),(16210,'UniProt Function',NULL,19302,NULL,'May function as a sodium-dependent glucose transporter. Potential channels for urea in the inner medulla of kidney.',NULL,NULL,NULL,NULL,NULL),(16211,'UniProt Function',NULL,19305,NULL,'Mediates high-affinity intracellular uptake of the rare oligo-element molybdenum.',NULL,NULL,NULL,NULL,NULL),(16212,'UniProt Function',NULL,19307,NULL,'Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities (PubMed:12799427). Represses the NFAT1-dependent transactivation of NFAT-responsive promoters (PubMed:21576369). Acts as a coactivator of VEGFA expression in cardiac and skeletal muscles (PubMed:20702774). Plays a role in immature B-cell differentiation (PubMed:27016798).',NULL,NULL,NULL,NULL,NULL),(16213,'UniProt Function',NULL,19308,NULL,'May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.',NULL,NULL,NULL,NULL,NULL),(16214,'UniProt Function',NULL,19309,NULL,'Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation. May inhibit FGF-induced FGFR1 tyrosine phosphorylation. Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK. Mediates JNK activation and may be involved in apoptosis. Might have a role in the early stages of fate specification of GnRH-secreting neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(16215,'UniProt Function',NULL,19310,NULL,'Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product which is further hydrolyzed by sperm hyaluronidase to give small oligosaccharides. Displays very low levels of activity. Associates with and negatively regulates MST1R.',NULL,NULL,NULL,NULL,NULL),(16216,'UniProt Function',NULL,19311,NULL,'Inhibits the activity of interleukin-36 (IL36A,IL36B and IL36G) by binding to receptor IL1RL2 and preventing its association with the coreceptor IL1RAP for signaling. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor. Proposed to play a role in skin inflammation. May be involved in the innate immune response to fungal pathogens, such as Aspergillus fumigatus. May activate an anti-inflammatory signaling pathway by recruiting SIGIRR.',NULL,NULL,NULL,NULL,NULL),(16217,'UniProt Function',NULL,19312,NULL,'Catalyzes the first and rate limiting step of the catabolism of the essential amino acid tryptophan along the kynurenine pathway (PubMed:17671174). Involved in the peripheral immune tolerance, contributing to maintain homeostasis by preventing autoimmunity or immunopathology that would result from uncontrolled and overreacting immune responses (PubMed:25691885). Tryptophan shortage inhibits T lymphocytes division and accumulation of tryptophan catabolites induces T-cell apoptosis and differentiation of regulatory T-cells (PubMed:25691885). Acts as a suppressor of anti-tumor immunity (PubMed:23103127, PubMed:25157255, PubMed:14502282, PubMed:25691885). Limits the growth of intracellular pathogens by depriving tryptophan (PubMed:25691885). Protects the fetus from maternal immune rejection (PubMed:25691885).',NULL,NULL,NULL,NULL,NULL),(16218,'UniProt Function',NULL,19313,NULL,'Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structure.',NULL,NULL,NULL,NULL,NULL),(16219,'UniProt Function',NULL,19314,NULL,'Plays a role in the apoptotic process and has a pro-apoptotic activity.',NULL,NULL,NULL,NULL,NULL),(16220,'UniProt Function',NULL,19315,NULL,'Receptor for IL27. Requires IL6ST/gp130 to mediate signal transduction in response to IL27. This signaling system acts through STAT3 and STAT1. Involved in the regulation of Th1-type immune responses. Also appears to be involved in innate defense mechanisms.',NULL,NULL,NULL,NULL,NULL),(16221,'UniProt Function',NULL,19316,NULL,'Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events.',NULL,NULL,NULL,NULL,NULL),(16222,'UniProt Function',NULL,19317,NULL,'Binds as a monomer with high affinity to interleukin-13 (IL13), but not to interleukin-4 (IL4).',NULL,NULL,NULL,NULL,NULL),(16223,'UniProt Function',NULL,19318,NULL,'Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP).',NULL,NULL,NULL,NULL,NULL),(16224,'UniProt Function',NULL,19319,NULL,'Cytokine with immunomodulatory activity. Alone, does not induce cytokine production, but reduces IL22 and IL17A production by T-cells in response to heat-killed Candida albicans. Reduces IL36G-induced production of IL8 by peripheral blood mononuclear cells. Increases IL6 production by dendritic cells stimulated by bacterial lipopolysaccharides (LPS). Ligand for IL-36R/IL1RL2.',NULL,NULL,NULL,NULL,NULL),(16225,'UniProt Function',NULL,19320,NULL,'Non-signaling receptor for IL1A, IL1B and IL1RN. Reduces IL1B activities. Serves as a decoy receptor by competetive binding to IL1B and preventing its binding to IL1R1. Also modulates cellular response through non-signaling association with IL1RAP after binding to IL1B. IL1R2 (membrane and secreted forms) preferentially binds IL1B and poorly IL1A and IL1RN. The secreted IL1R2 recruits secreted IL1RAP with high affinity; this complex formation may be the dominant mechanism for neutralization of IL1B by secreted/soluble receptors.',NULL,NULL,NULL,NULL,NULL),(16226,'UniProt Function',NULL,19321,NULL,'Hematopoietic growth factor capable of stimulating the proliferation of lymphoid progenitors. It is important for proliferation during certain stages of B-cell maturation.',NULL,NULL,NULL,NULL,NULL),(16227,'UniProt Function',NULL,19322,NULL,'Proinflammatory and angiogenic cytokine that may be involved in epidermal function and psoriasis. Angiogenic and proliferative activities are antagonized by IL10. May act through STAT3.',NULL,NULL,NULL,NULL,NULL),(16228,'UniProt Function',NULL,19323,NULL,'Signal-transducing molecule. The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Binding of IL6 to IL6R induces IL6ST homodimerization and formation of a high-affinity receptor complex, which activates Janus kinases (PubMed:2261637). That causes phosphorylation of IL6ST tyrosine residues which in turn activates STAT3 (PubMed:19915009, PubMed:23294003). Mediates signals which regulate immune response, hematopoiesis, pain control and bone metabolism (By similarity). Has a role in embryonic development (By similarity). Does not bind IL6 (PubMed:2261637). Essential for survival of motor and sensory neurons and for differentiation of astrocytes (By similarity). Required for expression of TRPA1 in nociceptive neurons (By similarity). Required for the maintenance of PTH1R expression in the osteoblast lineage and for the stimulation of PTH-induced osteoblast differentiation (By similarity). Required for normal trabecular bone mass and cortical bone composition (By similarity).',NULL,NULL,NULL,NULL,NULL),(16229,'UniProt Function',NULL,19324,NULL,'Within the IL18 receptor complex, responsible for the binding of the proinflammatory cytokine IL18, but not IL1A nor IL1B (PubMed:8626725, PubMed:14528293, PubMed:25261253, PubMed:25500532). Involved in IL18-mediated IFNG synthesis from T-helper 1 (Th1) cells (PubMed:10653850). Contributes to IL18-induced cytokine production, either independently of SLC12A3, or as a complex with SLC12A3 (By similarity).',NULL,NULL,NULL,NULL,NULL),(16230,'UniProt Function',NULL,19325,NULL,'Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages.',NULL,NULL,NULL,NULL,NULL),(16231,'UniProt Function',NULL,19325,NULL,'This CSF induces granulocytes, macrophages, mast cells, stem cells, erythroid cells, eosinophils and megakaryocytes.',NULL,NULL,NULL,NULL,NULL),(16232,'UniProt Function',NULL,19328,NULL,'Single-stranded DNA-binding protein required for homologous recombination in meiosis I. Required for double strand breaks (DSBs) repair and crossover formation and promotion of faithful and complete synapsis. Not required for the initial loading of recombinases but required to maintain a proper number of RAD51 and DMC1 foci after the zygotene stage. May act by ensuring the stabilization of recombinases, which is required for successful homology search and meiotic recombination. Displays Single-stranded DNA 3\'-5\' exonuclease activity in vitro (By similarity).',NULL,NULL,NULL,NULL,NULL),(16233,'UniProt Function',NULL,19329,NULL,'Acts as a transcriptional regulator of PAX6. Acts as a transcriptional activator of PF4 in complex with PBX1 or PBX2. Required for hematopoiesis, megakaryocyte lineage development and vascular patterning. May function as a cofactor for HOXA7 and HOXA9 in the induction of myeloid leukemias.',NULL,NULL,NULL,NULL,NULL),(16234,'UniProt Function',NULL,19330,NULL,'Binds to activated CDC42 and RAC1 but does not seem to stimulate their GTPase activity. Associates with calmodulin.',NULL,NULL,NULL,NULL,NULL),(16235,'UniProt Function',NULL,19331,NULL,'Mesodermal transcription factor that plays a key role in somitogenesis and is required for sclerotome development (By similarity). Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner (PubMed:22206000). May have a regulatory role when quiescent vascular smooth muscle cells reenter the cell cycle.',NULL,NULL,NULL,NULL,NULL),(16236,'UniProt Function',NULL,19332,NULL,'ESCRT-III-like protein involved in specific functions of the ESCRT machinery. Is required for efficient abscission during cytokinesis, but not for HIV-1 budding. The involvement in the MVB pathway is not established. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells (PubMed:19129479, PubMed:19129480). During late anaphase, involved in nuclear envelope reassembly and mitotic spindle disassembly together with the ESCRT-III complex: IST1 acts by mediating the recruitment of SPAST to the nuclear membrane, leading to microtubule severing (PubMed:26040712). Regulates early endosomal tubulation together with the ESCRT-III complex by mediating the recruitment of SPAST (PubMed:23897888).',NULL,NULL,NULL,NULL,NULL),(16237,'UniProt Function',NULL,19333,NULL,'Integrin alpha-2/beta-1 is a receptor for laminin, collagen, collagen C-propeptides, fibronectin and E-cadherin. It recognizes the proline-hydroxylated sequence G-F-P-G-E-R in collagen. It is responsible for adhesion of platelets and other cells to collagens, modulation of collagen and collagenase gene expression, force generation and organization of newly synthesized extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(16238,'UniProt Function',NULL,19333,NULL,'(Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human rotavirus A.',NULL,NULL,NULL,NULL,NULL),(16239,'UniProt Function',NULL,19333,NULL,'(Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human echoviruses 1 and 8.',NULL,NULL,NULL,NULL,NULL),(16240,'UniProt Function',NULL,19334,NULL,'Integrin alpha-10/beta-1 is a receptor for collagen.',NULL,NULL,NULL,NULL,NULL),(16241,'UniProt Function',NULL,19335,NULL,'Integrin alpha-11/beta-1 is a receptor for collagen.',NULL,NULL,NULL,NULL,NULL),(16242,'UniProt Function',NULL,19336,NULL,'Integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta-1 and alpha-11/beta-1 are receptors for collagen. Integrins alpha-1/beta-1 and alpha-2/beta-2 recognize the proline-hydroxylated sequence G-F-P-G-E-R in collagen. Integrins alpha-2/beta-1, alpha-3/beta-1, alpha-4/beta-1, alpha-5/beta-1, alpha-8/beta-1, alpha-10/beta-1, alpha-11/beta-1 and alpha-V/beta-1 are receptors for fibronectin. Alpha-4/beta-1 recognizes one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. Integrin alpha-5/beta-1 is a receptor for fibrinogen. Integrin alpha-1/beta-1, alpha-2/beta-1, alpha-6/beta-1 and alpha-7/beta-1 are receptors for lamimin. Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-4/beta-1 is a receptor for VCAM1. It recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha-9/beta-1 is a receptor for VCAM1, cytotactin and osteopontin. It recognizes the sequence A-E-I-D-G-I-E-L in cytotactin. Integrin alpha-3/beta-1 is a receptor for epiligrin, thrombospondin and CSPG4. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. Integrin alpha-V/beta-1 is a receptor for vitronectin. Beta-1 integrins recognize the sequence R-G-D in a wide array of ligands. Isoform 2 interferes with isoform 1 resulting in a dominant negative effect on cell adhesion and migration (in vitro). When associated with alpha-7/beta-1 integrin, regulates cell adhesion and laminin matrix deposition. Involved in promoting endothelial cell motility and angiogenesis. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process and the formation of mineralized bone nodules. May be involved in up-regulation of the activity of kinases such as PKC via binding to KRT1. Together with KRT1 and RACK1, serves as a platform for SRC activation or inactivation. Plays a mechanistic adhesive role during telophase, required for the successful completion of cytokinesis. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. ITGA4:ITGB1 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415, PubMed:24789099). ITGA4:ITGB1 and ITGA5:ITGB1 bind to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). ITGA5:ITGB1 is a receptor for IL1B and binding is essential for IL1B signaling (PubMed:29030430).',NULL,NULL,NULL,NULL,NULL),(16243,'UniProt Function',NULL,19336,NULL,'Isoform 5: Isoform 5 displaces isoform 1 in striated muscles.',NULL,NULL,NULL,NULL,NULL),(16244,'UniProt Function',NULL,19336,NULL,'(Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human echoviruses 1 and 8.',NULL,NULL,NULL,NULL,NULL),(16245,'UniProt Function',NULL,19336,NULL,'(Microbial infection) Acts as a receptor for Cytomegalovirus/HHV-5.',NULL,NULL,NULL,NULL,NULL),(16246,'UniProt Function',NULL,19336,NULL,'(Microbial infection) Acts as a receptor for Epstein-Barr virus/HHV-4.',NULL,NULL,NULL,NULL,NULL),(16247,'UniProt Function',NULL,19336,NULL,'(Microbial infection) Integrin ITGA5:ITGB1 acts as a receptor for Human parvovirus B19.',NULL,NULL,NULL,NULL,NULL),(16248,'UniProt Function',NULL,19336,NULL,'(Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human rotavirus.',NULL,NULL,NULL,NULL,NULL),(16249,'UniProt Function',NULL,19336,NULL,'(Microbial infection) Acts as a receptor for Mammalian reovirus.',NULL,NULL,NULL,NULL,NULL),(16250,'UniProt Function',NULL,19336,NULL,'(Microbial infection) In case of HIV-1 infection, integrin ITGA5:ITGB1 binding to extracellular viral Tat protein seems to enhance angiogenesis in Kaposi\'s sarcoma lesions.',NULL,NULL,NULL,NULL,NULL),(16251,'UniProt Function',NULL,19337,NULL,'May play a role in the defense system against pathogens.',NULL,NULL,NULL,NULL,NULL),(16252,'UniProt Function',NULL,19338,NULL,'Integrin alpha-5/beta-1 (ITGA5:ITGB1) is a receptor for fibronectin and fibrinogen. It recognizes the sequence R-G-D in its ligands. ITGA5:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). ITGA5:ITGB1 is a receptor for IL1B and binding is essential for IL1B signaling (PubMed:29030430).',NULL,NULL,NULL,NULL,NULL),(16253,'UniProt Function',NULL,19338,NULL,'(Microbial infection) Integrin ITGA5:ITGB1 acts as a receptor for Human metapneumovirus.',NULL,NULL,NULL,NULL,NULL),(16254,'UniProt Function',NULL,19338,NULL,'(Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human parvovirus B19.',NULL,NULL,NULL,NULL,NULL),(16255,'UniProt Function',NULL,19338,NULL,'(Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi\'s sarcoma lesions.',NULL,NULL,NULL,NULL,NULL),(16256,'UniProt Function',NULL,19339,NULL,'Integrin alpha-L/beta-2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrin alpha-L/beta-2 is also a receptor for F11R (PubMed:11812992, PubMed:15528364). Involved in a variety of immune phenomena including leukocyte-endothelial cell interaction, cytotoxic T-cell mediated killing, and antibody dependent killing by granulocytes and monocytes. Contributes to natural killer cell cytotoxicity (PubMed:15356110). Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutrophils (PubMed:11812992). Required for generation of common lymphoid progenitor cells in bone marrow, indicating a role in lymphopoiesis (By similarity). Integrin alpha-L/beta-2 in association with ICAM3, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590).',NULL,NULL,NULL,NULL,NULL),(16257,'UniProt Function',NULL,19340,NULL,'The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 and ITGAV:ITGB6 act as a receptor for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). Integrin alpha-V/beta-6 or alpha-V/beta-8 (ITGAV:ITGB6 or ITGAV:ITGB8) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447).',NULL,NULL,NULL,NULL,NULL),(16258,'UniProt Function',NULL,19340,NULL,'(Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for Adenovirus type C.',NULL,NULL,NULL,NULL,NULL),(16259,'UniProt Function',NULL,19340,NULL,'(Microbial infection) Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for Coxsackievirus A9 and B1.',NULL,NULL,NULL,NULL,NULL),(16260,'UniProt Function',NULL,19340,NULL,'(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8.',NULL,NULL,NULL,NULL,NULL),(16261,'UniProt Function',NULL,19340,NULL,'(Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1.',NULL,NULL,NULL,NULL,NULL),(16262,'UniProt Function',NULL,19340,NULL,'(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1.',NULL,NULL,NULL,NULL,NULL),(16263,'UniProt Function',NULL,19340,NULL,'(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus.',NULL,NULL,NULL,NULL,NULL),(16264,'UniProt Function',NULL,19340,NULL,'(Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi\'s sarcoma lesions.',NULL,NULL,NULL,NULL,NULL),(16265,'UniProt Function',NULL,19341,NULL,'Transcription factor which plays a key role in defining the composition of the RNA polymerase II (RNAPII) elongation complex and in modulating the production of mature mRNA transcripts. Acts as an assembly factor to recruit various factors to the RNAPII elongation complex and is recruited to the complex via binding to the transcription elongation factor SUPT6H bound to the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2) to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription.',NULL,NULL,NULL,NULL,NULL),(16266,'UniProt Function',NULL,19343,NULL,'Probable S-adenosyl-L-methionine-dependent methyltransferase.',NULL,NULL,NULL,NULL,NULL),(16267,'UniProt Function',NULL,19344,NULL,'RNA N6-methyltransferase that methylates adenosine residues at the N(6) position of a subset of RNAs and is involved in S-adenosyl-L-methionine homeostasis by regulating expression of MAT2A transcripts (PubMed:28525753, PubMed:30197299, PubMed:30197297). Able to N6-methylate a subset of mRNAs and U6 small nuclear RNAs (U6 snRNAs) (PubMed:28525753). In contrast to the METTL3-METTL14 heterodimer, only able to methylate a limited number of RNAs: requires both a 5\'UACAGAGAA-3\' nonamer sequence and a specific RNA structure (PubMed:28525753, PubMed:30197299, PubMed:30197297). Plays a key role in S-adenosyl-L-methionine homeostasis by mediating N6-methylation of MAT2A mRNAs, altering splicing and/or stability of MAT2A transcripts: in presence of S-adenosyl-L-methionine, binds the 3\'-UTR region of MAT2A mRNA and specifically N6-methylates the first hairpin of MAT2A mRNA, impairing MAT2A expression (PubMed:28525753). In S-adenosyl-L-methionine-limiting conditions, binds the 3\'-UTR region of MAT2A mRNA but stalls due to the lack of a methyl donor, preventing N6-methylation and promoting expression of MAT2A (PubMed:28525753). In addition to mRNAs, also able to mediate N6-methylation of U6 small nuclear RNA (U6 snRNA): specifically N6-methylates adenine in position 43 of U6 snRNAs (PubMed:28525753, PubMed:29051200). Also able to bind various lncRNAs (PubMed:29051200). Specifically binds the 3\'-end of the MALAT1 long non-coding RNA (PubMed:27872311).',NULL,NULL,NULL,NULL,NULL),(16268,'UniProt Function',NULL,19345,NULL,'Probable histidine methyltransferase.',NULL,NULL,NULL,NULL,NULL),(16269,'UniProt Function',NULL,19346,NULL,'Probable methyltransferase.',NULL,NULL,NULL,NULL,NULL),(16270,'UniProt Function',NULL,19347,NULL,'IFN-induced antiviral protein which inhibits the entry of viruses to the host cell cytoplasm, permitting endocytosis, but preventing subsequent viral fusion and release of viral contents into the cytosol. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV), Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus type 1 (HIV-1) and vesicular stomatitis virus (VSV). Can inhibit: influenza virus hemagglutinin protein-mediated viral entry, MARV and EBOV GP1,2-mediated viral entry, SARS-CoV S protein-mediated viral entry and VSV G protein-mediated viral entry. Induces cell cycle arrest and mediates apoptosis by caspase activation and in p53-independent manner.',NULL,NULL,NULL,NULL,NULL),(16271,'UniProt Function',NULL,19348,NULL,'Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.',NULL,NULL,NULL,NULL,NULL),(16272,'UniProt Function',NULL,19349,NULL,'Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.',NULL,NULL,NULL,NULL,NULL),(16273,'UniProt Function',NULL,19350,NULL,'Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-selective action is because of the epithelial cell-specific expression of its receptor IFNLR1. Seems not to be essential for early virus-activated host defense in vaginal infection, but plays an important role in Toll-like receptor (TLR)-induced antiviral defense. Plays a significant role in the antiviral immune defense in the intestinal epithelium. Exerts an immunomodulatory effect by up-regulating MHC class I antigen expression.',NULL,NULL,NULL,NULL,NULL),(16274,'UniProt Function',NULL,19351,NULL,'Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.',NULL,NULL,NULL,NULL,NULL),(16275,'UniProt Function',NULL,19352,NULL,'Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.',NULL,NULL,NULL,NULL,NULL),(16276,'UniProt Function',NULL,19354,NULL,'Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). Ig alpha is the major immunoglobulin class in body secretions (PubMed:2241915).',NULL,NULL,NULL,NULL,NULL),(16277,'UniProt Function',NULL,19355,NULL,'Ligand for IL17RA and IL17RC (PubMed:17911633). The heterodimer formed by IL17A and IL17F is a ligand for the heterodimeric complex formed by IL17RA and IL17RC (PubMed:18684971). Involved in stimulating the production of other cytokines such as IL6, IL8 and CSF2, and in regulation of cartilage matrix turnover (PubMed:11591732, PubMed:11591768, PubMed:11574464). Also involved in stimulating the proliferation of peripheral blood mononuclear cells and T-cells and in inhibition of angiogenesis (PubMed:11591732). Plays a role in the induction of neutrophilia in the lungs and in the exacerbation of antigen-induced pulmonary allergic inflammation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16278,'UniProt Function',NULL,19356,NULL,'Transcriptional regulator which directly modulates PDPK1 expression, thus promoting survival of pancreatic beta-cells. Also regulates expression of NDFIP1, BNIP3, and CCNG1.',NULL,NULL,NULL,NULL,NULL),(16279,'UniProt Function',NULL,19357,NULL,'Ubiquitin-like protein which plays a key role in the innate immune response to viral infection either via its conjugation to a target protein (ISGylation) or via its action as a free or unconjugated protein. ISGylation involves a cascade of enzymatic reactions involving E1, E2, and E3 enzymes which catalyze the conjugation of ISG15 to a lysine residue in the target protein. Its target proteins include IFIT1, MX1/MxA, PPM1B, UBE2L6, UBA7, CHMP5, CHMP2A, CHMP4B and CHMP6. Can also isgylate: EIF2AK2/PKR which results in its activation, DDX58/RIG-I which inhibits its function in antiviral signaling response, EIF4E2 which enhances its cap structure-binding activity and translation-inhibition activity, UBE2N and UBE2E1 which negatively regulates their activity, IRF3 which inhibits its ubiquitination and degradation and FLNB which prevents its ability to interact with the upstream activators of the JNK cascade therby inhibiting IFNA-induced JNK signaling. Exhibits antiviral activity towards both DNA and RNA viruses, including influenza A, HIV-1 and Ebola virus. Restricts HIV-1 and ebola virus via disruption of viral budding. Inhibits the ubiquitination of HIV-1 Gag and host TSG101 and disrupts their interaction, thereby preventing assembly and release of virions from infected cells. Inhibits Ebola virus budding mediated by the VP40 protein by disrupting ubiquitin ligase activity of NEDD4 and its ability to ubiquitinate VP40. ISGylates influenza A virus NS1 protein which causes a loss of function of the protein and the inhibition of virus replication. The secreted form of ISG15 can: induce natural killer cell proliferation, act as a chemotactic factor for neutrophils and act as a IFN-gamma-inducing cytokine playing an essential role in antimycobacterial immunity.',NULL,NULL,NULL,NULL,NULL),(16280,'UniProt Function',NULL,19358,NULL,'May be a serine protease inhibitor.',NULL,NULL,NULL,NULL,NULL),(16281,'UniProt Function',NULL,19360,NULL,'Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and multiple interleukins (PubMed:7615558). Following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins (PubMed:9618263). Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, cell stimulation with erythropoietin (EPO) during erythropoiesis leads to JAK2 autophosphorylation, activation, and its association with erythropoietin receptor (EPOR) that becomes phosphorylated in its cytoplasmic domain. Then, STAT5 (STAT5A or STAT5B) is recruited, phosphorylated and activated by JAK2. Once activated, dimerized STAT5 translocates into the nucleus and promotes the transcription of several essential genes involved in the modulation of erythropoiesis. Part of a signaling cascade that is activated by increased cellular retinol and that leads to the activation of STAT5 (STAT5A or STAT5B) (PubMed:21368206). In addition, JAK2 mediates angiotensin-2-induced ARHGEF1 phosphorylation (PubMed:20098430). Plays a role in cell cycle by phosphorylating CDKN1B (PubMed:21423214). Cooperates with TEC through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. In the nucleus, plays a key role in chromatin by specifically mediating phosphorylation of \'Tyr-41\' of histone H3 (H3Y41ph), a specific tag that promotes exclusion of CBX5 (HP1 alpha) from chromatin (PubMed:19783980).',NULL,NULL,NULL,NULL,NULL),(16282,'UniProt Function',NULL,19362,NULL,'Component of the AP-1 transcription factor that represses transactivation mediated by the Jun family of proteins. Involved in a variety of transcriptional responses associated with AP-1 such as UV-induced apoptosis, cell differentiation, tumorigenesis and antitumogeneris. Can also function as a repressor by recruiting histone deacetylase 3/HDAC3 to the promoter region of JUN. May control transcription via direct regulation of the modification of histones and the assembly of chromatin.',NULL,NULL,NULL,NULL,NULL),(16283,'UniProt Function',NULL,19363,NULL,'The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Required for JNK activation in response to excitotoxic stress. Cytoplasmic MAPK8IP1 causes inhibition of JNK-regulated activity by retaining JNK in the cytoplasm and inhibiting JNK phosphorylation of c-Jun. May also participate in ApoER2-specific reelin signaling. Directly, or indirectly, regulates GLUT2 gene expression and beta-cell function. Appears to have a role in cell signaling in mature and developing nerve terminals. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins. Functions as an anti-apoptotic protein and whose level seems to influence the beta-cell death or survival response. Acts as a scaffold protein that coordinates with SH3RF1 in organizing different components of the JNK pathway, including RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/or MAPK9/JNK2 into a functional multiprotein complex to ensure the effective activation of the JNK signaling pathway. Regulates the activation of MAPK8/JNK1 and differentiation of CD8(+) T-cells.',NULL,NULL,NULL,NULL,NULL),(16284,'UniProt Function',NULL,19364,NULL,'Functions as a positive regulator of TNF-induced NF-kappa-B signaling (PubMed:27671354). Regulates angiogenesis and cellular metabolism through interaction with PKM (PubMed:27199445).',NULL,NULL,NULL,NULL,NULL),(16285,'UniProt Function',NULL,19365,NULL,'Acts both as a nuclear p53/TP53-cofactor and a cytoplasmic regulator of actin dynamics depending on conditions. In nucleus, acts as a cofactor that increases p53/TP53 response via its interaction with p300/EP300. Increases p53/TP53-dependent transcription and apoptosis, suggesting an important role in p53/TP53 stress response such as DNA damage. In cytoplasm, acts as a nucleation-promoting factor for both branched and unbranched actin filaments. Activates the Arp2/3 complex to induce branched actin filament networks. Also catalyzes actin polymerization in the absence of Arp2/3, creating unbranched filaments. Contributes to cell motility by controlling actin dynamics. May promote the rapid formation of a branched actin network by first nucleating new mother filaments and then activating Arp2/3 to branch off these filaments. The p53/TP53-cofactor and actin activator activities are regulated via its subcellular location (By similarity).',NULL,NULL,NULL,NULL,NULL),(16286,'UniProt Function',NULL,19366,NULL,'Inhibits human amidolytic and kininogenase activities of tissue kallikrein. Inhibition is achieved by formation of an equimolar, heat- and SDS-stable complex between the inhibitor and the enzyme, and generation of a small C-terminal fragment of the inhibitor due to cleavage at the reactive site by tissue kallikrein.',NULL,NULL,NULL,NULL,NULL),(16287,'UniProt Function',NULL,19367,NULL,'Transcriptional regulator with bimodal DNA-binding specificity. Binds to methylated CpG dinucleotides in the consensus sequence 5\'-CGCG-3\' and also binds to the non-methylated consensus sequence 5\'-CTGCNA-3\' also known as the consensus kaiso binding site (KBS). Recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. May contribute to the repression of target genes of the Wnt signaling pathway. May also activate transcription of a subset of target genes by the recruitment of CTNND2. Represses expression of MMP7 in conjunction with transcriptional corepressors CBFA2T3, CBFA2T2 and RUNX1T1 (PubMed:23251453).',NULL,NULL,NULL,NULL,NULL),(16288,'UniProt Function',NULL,19368,NULL,'Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of its GEF activity.',NULL,NULL,NULL,NULL,NULL),(16289,'UniProt Function',NULL,19369,NULL,'Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells.',NULL,NULL,NULL,NULL,NULL),(16290,'UniProt Function',NULL,19370,NULL,'Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase.',NULL,NULL,NULL,NULL,NULL),(16291,'UniProt Function',NULL,19371,NULL,'As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.',NULL,NULL,NULL,NULL,NULL),(16292,'UniProt Function',NULL,19372,NULL,'As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.',NULL,NULL,NULL,NULL,NULL),(16293,'UniProt Function',NULL,19373,NULL,'Phosphorylates a large number of substrates in the cytoplasm and the nucleus. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis. Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, PSMC5/RPT6, PJA2, RYR2, RORA and VASP. RORA is activated by phosphorylation. Required for glucose-mediated adipogenic differentiation increase and osteogenic differentiation inhibition from osteoblasts. Involved in the regulation of platelets in response to thrombin and collagen; maintains circulating platelets in a resting state by phosphorylating proteins in numerous platelet inhibitory pathways when in complex with NF-kappa-B (NFKB1 and NFKB2) and I-kappa-B-alpha (NFKBIA), but thrombin and collagen disrupt these complexes and free active PRKACA stimulates platelets and leads to platelet aggregation by phosphorylating VASP. Prevents the antiproliferative and anti-invasive effects of alpha-difluoromethylornithine in breast cancer cells when activated. RYR2 channel activity is potentiated by phosphorylation in presence of luminal Ca(2+), leading to reduced amplitude and increased frequency of store overload-induced Ca(2+) release (SOICR) characterized by an increased rate of Ca(2+) release and propagation velocity of spontaneous Ca(2+) waves, despite reduced wave amplitude and resting cytosolic Ca(2+). PSMC5/RPT6 activation by phosphorylation stimulates proteasome. Negatively regulates tight junctions (TJs) in ovarian cancer cells via CLDN3 phosphorylation. NFKB1 phosphorylation promotes NF-kappa-B p50-p50 DNA binding. Involved in embryonic development by down-regulating the Hedgehog (Hh) signaling pathway that determines embryo pattern formation and morphogenesis. Prevents meiosis resumption in prophase-arrested oocytes via CDC25B inactivation by phosphorylation. May also regulate rapid eye movement (REM) sleep in the pedunculopontine tegmental (PPT). Phosphorylates APOBEC3G and AICDA. Isoform 2 phosphorylates and activates ABL1 in sperm flagellum to promote spermatozoa capacitation. Phosphorylates HSF1; this phosphorylation promotes HSF1 nuclear localization and transcriptional activity upon heat shock (PubMed:21085490).',NULL,NULL,NULL,NULL,NULL),(16294,'UniProt Function',NULL,19374,NULL,'Catalytic subunit of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome-DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Directly acetylates and activates ATM. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome. Relieves NR1D2-mediated inhibition of APOC3 expression by acetylating NR1D2. Promotes FOXP3 acetylation and positively regulates its transcriptional repressor activity (PubMed:17360565). Acetylates RAN at \'Lys-134\' (PubMed:29040603).',NULL,NULL,NULL,NULL,NULL),(16295,'UniProt Function',NULL,19375,NULL,'Histone demethylase that specifically demethylates \'Lys-36\' of histone H3, thereby playing a central role in histone code. Preferentially demethylates dimethylated H3 \'Lys-36\' residue while it has weak or no activity for mono- and tri-methylated H3 \'Lys-36\'. May also recognize and bind to some phosphorylated proteins and promote their ubiquitination and degradation. Required to maintain the heterochromatic state. Associates with centromeres and represses transcription of small non-coding RNAs that are encoded by the clusters of satellite repeats at the centromere. Required to sustain centromeric integrity and genomic stability, particularly during mitosis.',NULL,NULL,NULL,NULL,NULL),(16296,'UniProt Function',NULL,19376,NULL,'Histone demethylase that specifically demethylates \'Lys-9\' of histone H3, thereby playing a central role in histone code. Preferentially demethylates mono- and dimethylated H3 \'Lys-9\' residue, with a preference for dimethylated residue, while it has weak or no activity on trimethylated H3 \'Lys-9\'. Demethylation of Lys residue generates formaldehyde and succinate. Involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes, resulting in H3 \'Lys-9\' demethylation and transcriptional activation. Involved in spermatogenesis by regulating expression of target genes such as PRM1 and TNP1 which are required for packaging and condensation of sperm chromatin. Involved in obesity resistance through regulation of metabolic genes such as PPARA and UCP1.',NULL,NULL,NULL,NULL,NULL),(16297,'UniProt Function',NULL,19377,NULL,'Histone demethylase that specifically demethylates \'Lys-9\' and \'Lys-36\' residues of histone H3, thereby playing a central role in histone code (PubMed:26741168). Does not demethylate histone H3 \'Lys-4\', H3 \'Lys-27\' nor H4 \'Lys-20\'. Demethylates trimethylated H3 \'Lys-9\' and H3 \'Lys-36\' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate. Participates in transcriptional repression of ASCL2 and E2F-responsive promoters via the recruitment of histone deacetylases and NCOR1, respectively.',NULL,NULL,NULL,NULL,NULL),(16298,'UniProt Function',NULL,19377,NULL,'Isoform 2: Crucial for muscle differentiation, promotes transcriptional activation of the Myog gene by directing the removal of repressive chromatin marks at its promoter. Lacks the N-terminal demethylase domain.',NULL,NULL,NULL,NULL,NULL),(16299,'UniProt Function',NULL,19378,NULL,'Histone demethylase that specifically demethylates \'Lys-9\' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 \'Lys-4\', H3 \'Lys-27\', H3 \'Lys-36\' nor H4 \'Lys-20\'. Demethylates both di- and trimethylated H3 \'Lys-9\' residue, while it has no activity on monomethylated residues. Demethylation of Lys residue generates formaldehyde and succinate.',NULL,NULL,NULL,NULL,NULL),(16300,'UniProt Function',NULL,19379,NULL,'Histone demethylase that specifically demethylates \'Lys-9\' of histone H3, thereby playing a central role in histone code.',NULL,NULL,NULL,NULL,NULL),(16301,'UniProt Function',NULL,19380,NULL,'Histone demethylase that demethylates \'Lys-4\' of histone H3, thereby playing a central role in histone code (PubMed:24952722, PubMed:27214403, PubMed:28262558). Does not demethylate histone H3 \'Lys-9\' or H3 \'Lys-27\'. Demethylates trimethylated, dimethylated and monomethylated H3 \'Lys-4\'. Acts as a transcriptional corepressor for FOXG1B and PAX9. Favors the proliferation of breast cancer cells by repressing tumor suppressor genes such as BRCA1 and HOXA5 (PubMed:24952722). In contrast, may act as a tumor suppressor for melanoma. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(16302,'UniProt Function',NULL,19381,NULL,'Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Microtubule-based anterograde translocator for membranous organelles. Plus end-directed microtubule sliding activity in vitro (By similarity).',NULL,NULL,NULL,NULL,NULL),(16303,'UniProt Function',NULL,19382,NULL,'DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stranded DNA.',NULL,NULL,NULL,NULL,NULL),(16304,'UniProt Function',NULL,19383,NULL,'Microtubule-dependent motor required for normal distribution of mitochondria and lysosomes. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner (By similarity). Regulates centrosome and nuclear positioning during mitotic entry. During the G2 phase of the cell cycle in a BICD2-dependent manner, antagonizes dynein function and drives the separation of nuclei and centrosomes (PubMed:20386726). Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16305,'UniProt Function',NULL,19384,NULL,'Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis.',NULL,NULL,NULL,NULL,NULL),(16306,'UniProt Function',NULL,19385,NULL,'Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.',NULL,NULL,NULL,NULL,NULL),(16307,'UniProt Function',NULL,19386,NULL,'ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5\'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon.',NULL,NULL,NULL,NULL,NULL),(16308,'UniProt Function',NULL,19387,NULL,'ATP-dependent RNA helicase (PubMed:16170325). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:22961380, PubMed:28502770, PubMed:28076346). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Its RNA-dependent ATPase and RNA-helicase activities are induced by CASC3, but abolished in presence of the MAGOH-RBM8A heterodimer, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The inhibition of ATPase activity by the MAGOH-RBM8A heterodimer increases the RNA-binding affinity of the EJC. Involved in translational enhancement of spliced mRNAs after formation of the 80S ribosome complex. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Shows higher affinity for single-stranded RNA in an ATP-bound core EJC complex than after the ATP is hydrolyzed. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly (PubMed:22203037). Involved in craniofacial development (PubMed:24360810).',NULL,NULL,NULL,NULL,NULL),(16309,'UniProt Function',NULL,19388,NULL,'Catalyzes the hydrolysis of GTP bound to the 40S ribosomal initiation complex (40S.mRNA.Met-tRNA[F].eIF-2.GTP) with the subsequent joining of a 60S ribosomal subunit resulting in the release of eIF-2 and the guanine nucleotide. The subsequent joining of a 60S ribosomal subunit results in the formation of a functional 80S initiation complex (80S.mRNA.Met-tRNA[F]).',NULL,NULL,NULL,NULL,NULL),(16310,'UniProt Function',NULL,19389,NULL,'Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include mRNA lacking 2\'-O-methylation at their 5\' cap and long-dsRNA (>1 kb in length). Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylate interferon regulatory factors: IRF3 and IRF7 which in turn activate transcription of antiviral immunological genes, including interferons (IFNs); IFN-alpha and IFN-beta. Responsible for detecting the Picornaviridae family members such as encephalomyocarditis virus (EMCV) and mengo encephalomyocarditis virus (ENMG). Can also detect other viruses such as dengue virus (DENV), west Nile virus (WNV), and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome, such as vaccinia virus. Plays an important role in amplifying innate immune signaling through recognition of RNA metabolites that are produced during virus infection by ribonuclease L (RNase L). May play an important role in enhancing natural killer cell function and may be involved in growth inhibition and apoptosis in several tumor cell lines.',NULL,NULL,NULL,NULL,NULL),(16311,'UniProt Function',NULL,19390,NULL,'Component of the intraflagellar transport (IFT) complex B required for transport of proteins in the motile cilium. Required for transport of specific ciliary cargo proteins related to motility, while it is neither required for IFT complex B assembly or motion nor for cilium assembly. Required for efficient coupling between the accumulation of GLI2 and GLI3 at the ciliary tips and their dissociation from the negative regulator SUFU. Plays a key role in maintaining the integrity of the IFT complex B and the proper ciliary localization of the IFT complex B components. Not required for IFT complex A ciliary localization or function. Essential for maintaining proper microtubule organization within the ciliary axoneme.',NULL,NULL,NULL,NULL,NULL),(16312,'UniProt Function',NULL,19391,NULL,'mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16313,'UniProt Function',NULL,19392,NULL,'Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region (PubMed:23990561). Required for ciliogenesis (PubMed:27666822, PubMed:23990561). Required for proper regulation of SHH signaling (PubMed:27666822).',NULL,NULL,NULL,NULL,NULL),(16314,'UniProt Function',NULL,19393,NULL,'Involved in the control of early migration of neurons expressing gonadotropin-releasing hormone (GNRH neurons) (By similarity). May be involved in the maintenance of osteochondroprogenitor cells pool (By similarity).',NULL,NULL,NULL,NULL,NULL),(16315,'UniProt Function',NULL,19394,NULL,'Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the GIF-cobalamin complex is internalized via receptor-mediated endocytosis.',NULL,NULL,NULL,NULL,NULL),(16316,'UniProt Function',NULL,19395,NULL,'Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription.',NULL,NULL,NULL,NULL,NULL),(16317,'UniProt Function',NULL,19397,NULL,'Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170). Ig alpha is the major immunoglobulin class in body secretions (PubMed:2241915).',NULL,NULL,NULL,NULL,NULL),(16318,'UniProt Function',NULL,19399,NULL,'Coreceptor for IL1RL2 in the IL-36 signaling system (By similarity). Coreceptor with IL1R1 in the IL-1 signaling system. Associates with IL1R1 bound to IL1B to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Recruits TOLLIP to the signaling complex. Does not bind to interleukin-1 alone; binding of IL1RN to IL1R1, prevents its association with IL1R1 to form a signaling complex. The cellular response is modulated through a non-signaling association with the membrane IL1R2 decoy receptor. Coreceptor for IL1RL1 in the IL-33 signaling system. Can bidirectionally induce pre- and postsynaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity). May play a role in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (Probable).',NULL,NULL,NULL,NULL,NULL),(16319,'UniProt Function',NULL,19399,NULL,'Isoform 2: Associates with secreted ligand-bound IL1R2 and increases the affinity of secreted IL1R2 for IL1B; this complex formation may be the dominant mechanism for neutralization of IL1B by secreted/soluble receptors (PubMed:12530978). Enhances the ability of secreted IL1R1 to inhibit IL-33 signaling (By similarity).',NULL,NULL,NULL,NULL,NULL),(16320,'UniProt Function',NULL,19399,NULL,'Isoform 4: Unable to mediate canonical IL-1 signaling (PubMed:19481478). Required for Src phosphorylation by IL1B. May be involved in IL1B-potentiated NMDA-induced calcium influx in neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(16321,'UniProt Function',NULL,19400,NULL,'Cytokine that binds to and signals through the IL1RL1/ST2 receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells (PubMed:16286016). Involved in the maturation of Th2 cells inducing the secretion of T-helper type 2-associated cytokines. Also involved in activation of mast cells, basophils, eosinophils and natural killer cells. Acts as a chemoattractant for Th2 cells, and may function as an \"alarmin\", that amplifies immune responses during tissue injury (PubMed:17853410, PubMed:18836528).',NULL,NULL,NULL,NULL,NULL),(16322,'UniProt Function',NULL,19400,NULL,'In quiescent endothelia the uncleaved form is constitutively and abundantly expressed, and acts as a chromatin-associated nuclear factor with transcriptional repressor properties, it may sequester nuclear NF-kappaB/RELA, lowering expression of its targets (PubMed:21734074). This form is rapidely lost upon angiogenic or proinflammatory activation (PubMed:18787100).',NULL,NULL,NULL,NULL,NULL),(16323,'UniProt Function',NULL,19401,NULL,'This is the receptor for interleukin-5. The alpha chain binds to IL5.',NULL,NULL,NULL,NULL,NULL),(16324,'UniProt Function',NULL,19402,NULL,'Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure.',NULL,NULL,NULL,NULL,NULL),(16325,'UniProt Function',NULL,19403,NULL,'Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cell proliferation. In cultured keratinocytes induces the expression of macrophage, T-cell, and neutrophil chemokines, such as CCL3, CCL4, CCL5, CCL2, CCL17, CCL22, CL20, CCL5, CCL2, CCL17, CCL22, CXCL8, CCL20 and CXCL1; also stimulates its own expression and that of the prototypic cutaneous proinflammatory parameters TNF-alpha, S100A7/psoriasin and inducible NOS. May play a role in proinflammatory responses during particular neutrophilic airway inflammation: activates mitogen-activated protein kinases and NF-kappa B in primary lung fibroblasts, and stimulates the expression of IL-8 and CXCL3 and Th17 chemokine CCL20 in lung fibroblasts. May be involved in the innate immune response to fungal pathogens, such as Aspergillus fumigatus.',NULL,NULL,NULL,NULL,NULL),(16326,'UniProt Function',NULL,19404,NULL,'Suppressor of innate inflammatory and immune responses involved in curbing excessive inflammation. This function requires SMAD3. Suppresses, or reduces, proinflammatory cytokine production, including IL1A and IL6, as well as CCL12, CSF1, CSF2, CXCL13, IL1B, IL23A and IL1RN, but spares anti-inflammatory cytokines. Inhibits dendritic cell activation.',NULL,NULL,NULL,NULL,NULL),(16327,'UniProt Function',NULL,19405,NULL,'Produced by T-cells in response to antigenic or mitogenic stimulation, this protein is required for T-cell proliferation and other activities crucial to regulation of the immune response. Can stimulate B-cells, monocytes, lymphokine-activated killer cells, natural killer cells, and glioma cells.',NULL,NULL,NULL,NULL,NULL),(16328,'UniProt Function',NULL,19406,NULL,'Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation.',NULL,NULL,NULL,NULL,NULL),(16329,'UniProt Function',NULL,19407,NULL,'Interferon-induced antiviral exoribonuclease that acts on single-stranded RNA and also has minor activity towards single-stranded DNA. Exhibits antiviral activity against RNA viruses including hepatitis C virus (HCV), hepatitis A virus (HAV) and yellow fever virus (YFV) in an exonuclease-dependent manner. May also play additional roles in the maturation of snRNAs and rRNAs, and in ribosome biogenesis.',NULL,NULL,NULL,NULL,NULL),(16330,'UniProt Function',NULL,19408,NULL,'DNA-binding transcriptional activator. Recognizes and binds to the consensus octamer binding site 5\'-ATAATTAA-3\' in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor POU4F2 to achieve maximal levels of expression of RGC target genes and RGC fate specification in the developing retina. Involved in the specification of motor neurons in cooperation with LHX3 and LDB1. Binds to insulin gene enhancer sequences. Essential for heart development. Marker of one progenitor cell population that give rise to the outflow tract, right ventricle, a subset of left ventricular cells, and a large number of atrial cells as well, its function is required for these progenitors to contribute to the heart. Controls the expression of FGF and BMP growth factors in this cell population and is required for proliferation and survival of cells within pharyngeal foregut endoderm and adjacent splanchnic mesoderm as well as for migration of cardiac progenitors into the heart (By similarity).',NULL,NULL,NULL,NULL,NULL),(16331,'UniProt Function',NULL,19409,NULL,'May control cell migration by relaying extracellular chemotactic signals to the microtubule cytoskeleton. Mediator of ERBB2 signaling. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Is required for breast carcinoma cell migration.',NULL,NULL,NULL,NULL,NULL),(16332,'UniProt Function',NULL,19410,NULL,'Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates \'Lys-4\' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair.',NULL,NULL,NULL,NULL,NULL),(16333,'UniProt Function',NULL,19411,NULL,'Involved in control of cellular proliferation. Onconcogenic modifier contributing to the tumor suppressor function of DNMT3B.',NULL,NULL,NULL,NULL,NULL),(16334,'UniProt Function',NULL,19412,NULL,'Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints (PubMed:23290072, PubMed:24073994). Binds specifically to the promoter of target genes and regulates their expression. Activates expression of NKX3-2 in the sclerotome. Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner. Required for hematopoietic stem cell (HSCs) induction via its role in somitogenesis: specification of HSCs occurs via the deployment of a specific endothelial precursor population, which arises within a sub-compartment of the somite named endotome.',NULL,NULL,NULL,NULL,NULL),(16335,'UniProt Function',NULL,19413,NULL,'Non-catalytic component of the methylosome complex, composed of PRMT5, WDR77 and CLNS1A, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins and histones (PubMed:11756452). This modification targets Sm proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein core particles. Might play a role in transcription regulation. The methylosome complex also methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-containing proteins and subsequent localization to the meiotic nuage (PubMed:23071334).',NULL,NULL,NULL,NULL,NULL),(16336,'UniProt Function',NULL,19414,NULL,'Integrin alpha-1/beta-1 is a receptor for laminin and collagen. It recognizes the proline-hydroxylated sequence G-F-P-G-E-R in collagen. Involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth.',NULL,NULL,NULL,NULL,NULL),(16337,'UniProt Function',NULL,19415,NULL,'May play a role in pre-mRNA splicing as component of the spliceosome.',NULL,NULL,NULL,NULL,NULL),(16338,'UniProt Function',NULL,19416,NULL,'Acts as a substrate adapter protein for the E3 ubiquitin ligase complex formed by CUL3 and RBX1 and targets NFE2L2/NRF2 for ubiquitination and degradation by the proteasome, thus resulting in the suppression of its transcriptional activity and the repression of antioxidant response element-mediated detoxifying enzyme gene expression. Retains NFE2L2/NRF2 and may also retain BPTF in the cytosol. Targets PGAM5 for ubiquitination and degradation by the proteasome.',NULL,NULL,NULL,NULL,NULL),(16339,'UniProt Function',NULL,19418,NULL,'RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds preferentially to the 5\'-[AU]UAAA-3\' motif in vitro. Binds optimally to RNA containing 5\'-[AU]UAA-3\' as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). RNA-binding abilities are down-regulated by tyrosine kinase PTK6 (PubMed:10564820, PubMed:19561594, PubMed:26758068). Involved in splice site selection of vascular endothelial growth factor (PubMed:15901763). In vitro regulates CD44 alternative splicing by direct binding to purine-rich exonic enhancer (By similarity). Can regulate alternative splicing of neurexins NRXN1-3 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners such as neuroligins and LRRTM family members (PubMed:26758068). Targeted, cell-type specific splicing regulation of NRXN1 at AS4 is involved in neuronal glutamatergic synapse function and plasticity (By similarity). May regulate expression of KHDRBS2/SLIM-1 in defined brain neuron populations by modifying its alternative splicing (By similarity). Can bind FABP9 mRNA (By similarity). May play a role as a negative regulator of cell growth. Inhibits cell proliferation.',NULL,NULL,NULL,NULL,NULL),(16340,'UniProt Function',NULL,19418,NULL,'(Microbial infection) Involved in post-transcriptional regulation of HIV-1 gene expression.',NULL,NULL,NULL,NULL,NULL),(16341,'UniProt Function',NULL,19419,NULL,'Catalyzes the phosphorylation of the ketose sugar fructose to fructose-1-phosphate.',NULL,NULL,NULL,NULL,NULL),(16342,'UniProt Function',NULL,19420,NULL,'Essential for embryonic kidney development. Plays an important role in the compact adhesion between mesenchymal cells adjacent to the ureteric buds, possibly by interacting with MYH10. This could lead to the establishment of the basolateral integrity of the mesenchyme and the polarized expression of ITGA8, which maintains the GDNF expression required for further ureteric bud attraction. Although it seems to lack ATPase activity it is constitutively associated with microtubules (By similarity).',NULL,NULL,NULL,NULL,NULL),(16343,'UniProt Function',NULL,19421,NULL,'Receptor on natural killer (NK) cells for some HLA-C alleles such as w4 and w6. Inhibits the activity of NK cells thus preventing cell lysis.',NULL,NULL,NULL,NULL,NULL),(16344,'UniProt Function',NULL,19422,NULL,'Receptor for non-classical major histocompatibility class Ib HLA-G molecules. Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (peptide-bound HLA-G-B2M). In decidual NK cells, binds peptide-bound HLA-G-B2M complex and triggers NK cell senescence-associated secretory phenotype as a molecular switch to promote vascular remodeling and fetal growth in early pregnancy (PubMed:23184984, PubMed:29262349, PubMed:16366734). May play a role in balancing tolerance and antiviral-immunity at maternal-fetal interface by keeping in check the effector functions of NK, CD8+ T cells and B cells (PubMed:10190900, PubMed:16366734). Upon interaction with peptide-bound HLA-G-B2M, initiates signaling from the endosomal compartment leading to downstream activation of PRKDC-XRCC5 and AKT1, and ultimately triggering NF-kappa-B-dependent proinflammatory response (PubMed:20179272).',NULL,NULL,NULL,NULL,NULL),(16345,'UniProt Function',NULL,19423,NULL,'Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells.',NULL,NULL,NULL,NULL,NULL),(16346,'UniProt Function',NULL,19424,NULL,'Receptor on natural killer (NK) cells for HLA-A alleles. Inhibits the activity of NK cells thus preventing cell lysis.',NULL,NULL,NULL,NULL,NULL),(16347,'UniProt Function',NULL,19425,NULL,'Plus end-directed microtubule-dependent motor protein involved in endosome transport and receptor recycling and degradation. Regulates the plus end motility of early endosomes and the balance between recycling and degradation of receptors such as EGF receptor (EGFR) and FGF receptor (FGFR). Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development.',NULL,NULL,NULL,NULL,NULL),(16348,'UniProt Function',NULL,19426,NULL,'Transports vesicles containing N-methyl-D-aspartate (NMDA) receptor 2B along microtubules.',NULL,NULL,NULL,NULL,NULL),(16349,'UniProt Function',NULL,19427,NULL,'Motor protein that translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis. May play a role in mitotic chromosomal positioning and bipolar spindle stabilization (By similarity).',NULL,NULL,NULL,NULL,NULL),(16350,'UniProt Function',NULL,19428,NULL,'Plays an essential role in motile ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(16351,'UniProt Function',NULL,19429,NULL,'Plus end-directed microtubule-dependent motor required for normal brain development. May regulate microtubule dynamics during axonal growth. Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate. Required for normal spindle dynamics during mitosis. Promotes spindle turnover. Implicated in formation of bipolar mitotic spindles. Has microtubule depolymerization activity.',NULL,NULL,NULL,NULL,NULL),(16352,'UniProt Function',NULL,19430,NULL,'Plays a significant role in the normal development and function of the glomerular permeability. Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(16353,'UniProt Function',NULL,19431,NULL,'Microtubule-binding motor protein probably involved in neuronal axonal transport. In vitro, has a plus-end directed motor activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(16354,'UniProt Function',NULL,19432,NULL,'Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures connecting dentate granule and GABA neurons. Probably acts as a homophilic adhesion molecule that promotes trans-cellular interactions and stabilize mossy fiber filipodia contact and subsequent synapse formation. Required for the coalescence of vomeronasal sensory neuron axons. May be involved in the hematopoietic supportive capacity of stroma cells; the secreted extracellular domain is directly responsible for supporting hematopoietic stem cells.',NULL,NULL,NULL,NULL,NULL),(16355,'UniProt Function',NULL,19435,NULL,'Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limiting enzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bind FGF21 (By similarity).',NULL,NULL,NULL,NULL,NULL),(16356,'UniProt Function',NULL,19436,NULL,'May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(16357,'UniProt Function',NULL,19436,NULL,'The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling.',NULL,NULL,NULL,NULL,NULL),(16358,'UniProt Function',NULL,19437,NULL,'Serine-type endopeptidase with a dual trypsin-like and chymotrypsin-like substrate specificity. May activate/inactivate the proteinase-activated receptors F2R, F2RL1 and F2RL3 and other kallikreins including KLK1, KLK3, KLK5 and KLK11. May function in seminal clot liquefaction through direct cleavage of the semenogelin SEMG1 and SEMG2 and activation of KLK3. May function through desmoglein DSG1 cleavage in epidermal desquamation a process by which the most superficial corneocytes are shed from the skin surface. May be involved in several aspects of tumor progression including growth, invasion and angiogenesis.',NULL,NULL,NULL,NULL,NULL),(16359,'UniProt Function',NULL,19438,NULL,'Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity).',NULL,NULL,NULL,NULL,NULL),(16360,'UniProt Function',NULL,19439,NULL,'Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays diverse roles in neuronal cells and eye tissues, such as regulation of the neuronal receptors GRIA4/GLUR4 and GRIN1/NMDAR1, modulation of receptors and neuronal functions related to sensitivity to opiates, pain and alcohol, mediation of synaptic function and cell survival after ischemia, and inhibition of gap junction activity after oxidative stress. Binds and phosphorylates GRIA4/GLUR4 glutamate receptor and regulates its function by increasing plasma membrane-associated GRIA4 expression. In primary cerebellar neurons treated with the agonist 3,5-dihyidroxyphenylglycine, functions downstream of the metabotropic glutamate receptor GRM5/MGLUR5 and phosphorylates GRIN1/NMDAR1 receptor which plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. May be involved in the regulation of hippocampal long-term potentiation (LTP), but may be not necessary for the process of synaptic plasticity. May be involved in desensitization of mu-type opioid receptor-mediated G-protein activation in the spinal cord, and may be critical for the development and/or maintenance of morphine-induced reinforcing effects in the limbic forebrain. May modulate the functionality of mu-type-opioid receptors by participating in a signaling pathway which leads to the phosphorylation and degradation of opioid receptors. May also contributes to chronic morphine-induced changes in nociceptive processing. Plays a role in neuropathic pain mechanisms and contributes to the maintenance of the allodynia pain produced by peripheral inflammation. Plays an important role in initial sensitivity and tolerance to ethanol, by mediating the behavioral effects of ethanol as well as the effects of this drug on the GABA(A) receptors. During and after cerebral ischemia modulate neurotransmission and cell survival in synaptic membranes, and is involved in insulin-induced inhibition of necrosis, an important mechanism for minimizing ischemic injury. Required for the elimination of multiple climbing fibers during innervation of Purkinje cells in developing cerebellum. Is activated in lens epithelial cells upon hydrogen peroxide treatment, and phosphorylates connexin-43 (GJA1/CX43), resulting in disassembly of GJA1 gap junction plaques and inhibition of gap junction activity which could provide a protective effect against oxidative stress (By similarity). Phosphorylates p53/TP53 and promotes p53/TP53-dependent apoptosis in response to DNA damage. Involved in the phase resetting of the cerebral cortex circadian clock during temporally restricted feeding. Stabilizes the core clock component ARNTL/BMAL1 by interfering with its ubiquitination, thus suppressing its degradation, resulting in phase resetting of the cerebral cortex clock (By similarity).',NULL,NULL,NULL,NULL,NULL),(16361,'UniProt Function',NULL,19440,NULL,'Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in positive and negative regulation of cell proliferation, apoptosis, differentiation, migration and adhesion, tumorigenesis, cardiac hypertrophy, angiogenesis, platelet function and inflammation, by directly phosphorylating targets such as RAF1, BCL2, CSPG4, TNNT2/CTNT, or activating signaling cascade involving MAPK1/3 (ERK1/2) and RAP1GAP. Involved in cell proliferation and cell growth arrest by positive and negative regulation of the cell cycle. Can promote cell growth by phosphorylating and activating RAF1, which mediates the activation of the MAPK/ERK signaling cascade, and/or by up-regulating CDKN1A, which facilitates active cyclin-dependent kinase (CDK) complex formation in glioma cells. In intestinal cells stimulated by the phorbol ester PMA, can trigger a cell cycle arrest program which is associated with the accumulation of the hyper-phosphorylated growth-suppressive form of RB1 and induction of the CDK inhibitors CDKN1A and CDKN1B. Exhibits anti-apoptotic function in glioma cells and protects them from apoptosis by suppressing the p53/TP53-mediated activation of IGFBP3, and in leukemia cells mediates anti-apoptotic action by phosphorylating BCL2. During macrophage differentiation induced by macrophage colony-stimulating factor (CSF1), is translocated to the nucleus and is associated with macrophage development. After wounding, translocates from focal contacts to lamellipodia and participates in the modulation of desmosomal adhesion. Plays a role in cell motility by phosphorylating CSPG4, which induces association of CSPG4 with extensive lamellipodia at the cell periphery and polarization of the cell accompanied by increases in cell motility. During chemokine-induced CD4(+) T cell migration, phosphorylates CDC42-guanine exchange factor DOCK8 resulting in its dissociation from LRCH1 and the activation of GTPase CDC42 (PubMed:28028151). Is highly expressed in a number of cancer cells where it can act as a tumor promoter and is implicated in malignant phenotypes of several tumors such as gliomas and breast cancers. Negatively regulates myocardial contractility and positively regulates angiogenesis, platelet aggregation and thrombus formation in arteries. Mediates hypertrophic growth of neonatal cardiomyocytes, in part through a MAPK1/3 (ERK1/2)-dependent signaling pathway, and upon PMA treatment, is required to induce cardiomyocyte hypertrophy up to heart failure and death, by increasing protein synthesis, protein-DNA ratio and cell surface area. Regulates cardiomyocyte function by phosphorylating cardiac troponin T (TNNT2/CTNT), which induces significant reduction in actomyosin ATPase activity, myofilament calcium sensitivity and myocardial contractility. In angiogenesis, is required for full endothelial cell migration, adhesion to vitronectin (VTN), and vascular endothelial growth factor A (VEGFA)-dependent regulation of kinase activation and vascular tube formation. Involved in the stabilization of VEGFA mRNA at post-transcriptional level and mediates VEGFA-induced cell proliferation. In the regulation of calcium-induced platelet aggregation, mediates signals from the CD36/GP4 receptor for granule release, and activates the integrin heterodimer ITGA2B-ITGB3 through the RAP1GAP pathway for adhesion. During response to lipopolysaccharides (LPS), may regulate selective LPS-induced macrophage functions involved in host defense and inflammation. But in some inflammatory responses, may negatively regulate NF-kappa-B-induced genes, through IL1A-dependent induction of NF-kappa-B inhibitor alpha (NFKBIA/IKBA). Upon stimulation with 12-O-tetradecanoylphorbol-13-acetate (TPA), phosphorylates EIF4G1, which modulates EIF4G1 binding to MKNK1 and may be involved in the regulation of EIF4E phosphorylation. Phosphorylates KIT, leading to inhibition of KIT activity. Phosphorylates ATF2 which promotes cooperation between ATF2 and JUN, activating transcription.',NULL,NULL,NULL,NULL,NULL),(16362,'UniProt Function',NULL,19441,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16363,'UniProt Function',NULL,19442,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16364,'UniProt Function',NULL,19444,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16365,'UniProt Function',NULL,19445,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16366,'UniProt Function',NULL,19446,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16367,'UniProt Function',NULL,19447,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).',NULL,NULL,NULL,NULL,NULL),(16368,'UniProt Function',NULL,19448,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16369,'UniProt Function',NULL,19449,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16370,'UniProt Function',NULL,19454,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16371,'UniProt Function',NULL,19456,NULL,'Phosphorylates psicosamines and ribulosamines, but not fructosamines, on the third carbon of the sugar moiety. Protein-bound psicosamine 3-phosphates and ribulosamine 3-phosphates are unstable and decompose under physiological conditions. Thus phosphorylation leads to deglycation.',NULL,NULL,NULL,NULL,NULL),(16372,'UniProt Function',NULL,19457,NULL,'Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (PubMed:22467853). May be involved in N-glycosylation of APP (amyloid-beta precursor protein). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1 (PubMed:21768116).',NULL,NULL,NULL,NULL,NULL),(16373,'UniProt Function',NULL,19459,NULL,'Phosphorylates specifically ribosomal protein S6.',NULL,NULL,NULL,NULL,NULL),(16374,'UniProt Function',NULL,19460,NULL,'May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In osteoblasts, supports transcription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Has also been shown to be an essential corepressor protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH, and therefore suppresses the transactivation activity of Notch signaling. Blocks the differentiation of precursor B-cells into marginal zone B-cells. Probably represses transcription via the recruitment of large complexes containing histone deacetylase proteins. May bind both to DNA and RNA.',NULL,NULL,NULL,NULL,NULL),(16375,'UniProt Function',NULL,19461,NULL,'Hydrolase that can specifically remove \'Lys-48\'-linked conjugated ubiquitin from proteins. Has exodeubiquitinase activity and has a preference for long polyubiquitin chains. May play a regulatory role at the level of protein turnover.',NULL,NULL,NULL,NULL,NULL),(16376,'UniProt Function',NULL,19463,NULL,'Water channel (PubMed:24120416). Channel activity is down-regulated by CALM when cytoplasmic Ca(2+) levels are increased. May be responsible for regulating the osmolarity of the lens. Interactions between homotetramers from adjoining membranes may stabilize cell junctions in the eye lens core (By similarity). Plays a role in cell-to-cell adhesion and facilitates gap junction coupling (PubMed:24120416).',NULL,NULL,NULL,NULL,NULL),(16377,'UniProt Function',NULL,19465,NULL,'Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution (By similarity).',NULL,NULL,NULL,NULL,NULL),(16378,'UniProt Function',NULL,19466,NULL,'Required for efficient abscission at the end of cytokinesis, together with components of the ESCRT-III complex.',NULL,NULL,NULL,NULL,NULL),(16379,'UniProt Function',NULL,19467,NULL,'Transcription factor that play a central role in proper axial mesendoderm morphogenesis and endoderm formation. Required for efficient differentiation of cells from the primitive streak stage to blood, by acting early in the recruitment and/or expansion of mesodermal progenitors to the hemangioblastic and hematopoietic lineages. Also involved in the morphogenesis of the heart and the gut during embryogenesis. Acts as a negative regulator of brachyury expression (By similarity).',NULL,NULL,NULL,NULL,NULL),(16380,'UniProt Function',NULL,19468,NULL,'Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays also a role in initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors. About 160 substrates have already been discovered for ERKs. Many of these substrates are localized in the nucleus, and seem to participate in the regulation of transcription upon stimulation. However, other substrates are found in the cytosol as well as in other cellular organelles, and those are responsible for processes such as translation, mitosis and apoptosis. Moreover, the MAPK/ERK cascade is also involved in the regulation of the endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC); as well as in the fragmentation of the Golgi apparatus during mitosis. The substrates include transcription factors (such as ATF2, BCL6, ELK1, ERF, FOS, HSF4 or SPZ1), cytoskeletal elements (such as CANX, CTTN, GJA1, MAP2, MAPT, PXN, SORBS3 or STMN1), regulators of apoptosis (such as BAD, BTG2, CASP9, DAPK1, IER3, MCL1 or PPARG), regulators of translation (such as EIF4EBP1) and a variety of other signaling-related molecules (like ARHGEF2, DCC, FRS2 or GRB10). Protein kinases (such as RAF1, RPS6KA1/RSK1, RPS6KA3/RSK2, RPS6KA2/RSK3, RPS6KA6/RSK4, SYK, MKNK1/MNK1, MKNK2/MNK2, RPS6KA5/MSK1, RPS6KA4/MSK2, MAPKAPK3 or MAPKAPK5) and phosphatases (such as DUSP1, DUSP4, DUSP6 or DUSP16) are other substrates which enable the propagation the MAPK/ERK signal to additional cytosolic and nuclear targets, thereby extending the specificity of the cascade. Mediates phosphorylation of TPR in respons to EGF stimulation. May play a role in the spindle assembly checkpoint. Phosphorylates PML and promotes its interaction with PIN1, leading to PML degradation. Phosphorylates CDK2AP2 (By similarity).',NULL,NULL,NULL,NULL,NULL),(16381,'UniProt Function',NULL,19468,NULL,'Acts as a transcriptional repressor. Binds to a [GC]AAA[GC] consensus sequence. Repress the expression of interferon gamma-induced genes. Seems to bind to the promoter of CCL5, DMP1, IFIH1, IFITM1, IRF7, IRF9, LAMP3, OAS1, OAS2, OAS3 and STAT1. Transcriptional activity is independent of kinase activity.',NULL,NULL,NULL,NULL,NULL),(16382,'UniProt Function',NULL,19469,NULL,'Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays also a role in initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors. About 160 substrates have already been discovered for ERKs. Many of these substrates are localized in the nucleus, and seem to participate in the regulation of transcription upon stimulation. However, other substrates are found in the cytosol as well as in other cellular organelles, and those are responsible for processes such as translation, mitosis and apoptosis. Moreover, the MAPK/ERK cascade is also involved in the regulation of the endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC); as well as in the fragmentation of the Golgi apparatus during mitosis. The substrates include transcription factors (such as ATF2, BCL6, ELK1, ERF, FOS, HSF4 or SPZ1), cytoskeletal elements (such as CANX, CTTN, GJA1, MAP2, MAPT, PXN, SORBS3 or STMN1), regulators of apoptosis (such as BAD, BTG2, CASP9, DAPK1, IER3, MCL1 or PPARG), regulators of translation (such as EIF4EBP1) and a variety of other signaling-related molecules (like ARHGEF2, FRS2 or GRB10). Protein kinases (such as RAF1, RPS6KA1/RSK1, RPS6KA3/RSK2, RPS6KA2/RSK3, RPS6KA6/RSK4, SYK, MKNK1/MNK1, MKNK2/MNK2, RPS6KA5/MSK1, RPS6KA4/MSK2, MAPKAPK3 or MAPKAPK5) and phosphatases (such as DUSP1, DUSP4, DUSP6 or DUSP16) are other substrates which enable the propagation the MAPK/ERK signal to additional cytosolic and nuclear targets, thereby extending the specificity of the cascade.',NULL,NULL,NULL,NULL,NULL),(16383,'UniProt Function',NULL,19470,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16384,'UniProt Function',NULL,19474,NULL,'Acts as a phosphoinositide 5- and phosphoinositide 6-phosphatase and regulates cellular levels of inositol pentakisphosphate (InsP5) and inositol hexakisphosphate (InsP6). Also acts as a 2,3-bisphosphoglycerate 3-phosphatase, by mediating the dephosphorylation of 2,3-bisphosphoglycerate (2,3-BPG) to produce phospho-D-glycerate without formation of 3-phosphoglycerate. May play a role in bone development (endochondral ossification). May play a role in the transition of chondrocytes from proliferation to hypertrophy (By similarity).',NULL,NULL,NULL,NULL,NULL),(16385,'UniProt Function',NULL,19475,NULL,'Probable hydrolase that can remove \'Lys-48\'-linked conjugated ubiquitin from proteins.',NULL,NULL,NULL,NULL,NULL),(16386,'UniProt Function',NULL,19476,NULL,'As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210).',NULL,NULL,NULL,NULL,NULL),(16387,'UniProt Function',NULL,19477,NULL,'Cleaves proteins, imported into the mitochondrion, to their mature size.',NULL,NULL,NULL,NULL,NULL),(16388,'UniProt Function',NULL,19478,NULL,'Catalyzes the conversion of dTMP to dTDP.',NULL,NULL,NULL,NULL,NULL),(16389,'UniProt Function',NULL,19480,NULL,'Atypical MAPK protein. Phosphorylates microtubule-associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK4/MAPK4 is phosphorylated at Ser-186 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK4/MAPK4. May promote entry in the cell cycle (By similarity).',NULL,NULL,NULL,NULL,NULL),(16390,'UniProt Function',NULL,19481,NULL,'Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK9/JNK2. In turn, MAPK9/JNK2 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN and ATF2 and thus regulates AP-1 transcriptional activity. In response to oxidative or ribotoxic stresses, inhibits rRNA synthesis by phosphorylating and inactivating the RNA polymerase 1-specific transcription initiation factor RRN3. Promotes stressed cell apoptosis by phosphorylating key regulatory factors including TP53 and YAP1. In T-cells, MAPK8 and MAPK9 are required for polarized differentiation of T-helper cells into Th1 cells. Upon T-cell receptor (TCR) stimulation, is activated by CARMA1, BCL10, MAP2K7 and MAP3K7/TAK1 to regulate JUN protein levels. Plays an important role in the osmotic stress-induced epithelial tight-junctions disruption. When activated, promotes beta-catenin/CTNNB1 degradation and inhibits the canonical Wnt signaling pathway. Participates also in neurite growth in spiral ganglion neurons. Phosphorylates the CLOCK-ARNTL/BMAL1 heterodimer and plays a role in the regulation of the circadian clock (PubMed:22441692). Phosphorylates POU5F1, which results in the inhibition of POU5F1\'s transcriptional activity and enhances its proteosomal degradation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16391,'UniProt Function',NULL,19481,NULL,'MAPK9 isoforms display different binding patterns: alpha-1 and alpha-2 preferentially bind to JUN, whereas beta-1 and beta-2 bind to ATF2. However, there is no correlation between binding and phosphorylation, which is achieved at about the same efficiency by all isoforms. JUNB is not a substrate for JNK2 alpha-2, and JUND binds only weakly to it.',NULL,NULL,NULL,NULL,NULL),(16392,'UniProt Function',NULL,19482,NULL,'Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK11 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK11 functions are mostly redundant with those of MAPK14. Some of the targets are downstream kinases which are activated through phosphorylation and further phosphorylate additional targets. RPS6KA5/MSK1 and RPS6KA4/MSK2 can directly phosphorylate and activate transcription factors such as CREB1, ATF1, the NF-kappa-B isoform RELA/NFKB3, STAT1 and STAT3, but can also phosphorylate histone H3 and the nucleosomal protein HMGN1. RPS6KA5/MSK1 and RPS6KA4/MSK2 play important roles in the rapid induction of immediate-early genes in response to stress or mitogenic stimuli, either by inducing chromatin remodeling or by recruiting the transcription machinery. On the other hand, two other kinase targets, MAPKAPK2/MK2 and MAPKAPK3/MK3, participate in the control of gene expression mostly at the post-transcriptional level, by phosphorylating ZFP36 (tristetraprolin) and ELAVL1, and by regulating EEF2K, which is important for the elongation of mRNA during translation. MKNK1/MNK1 and MKNK2/MNK2, two other kinases activated by p38 MAPKs, regulate protein synthesis by phosphorylating the initiation factor EIF4E2. In the cytoplasm, the p38 MAPK pathway is an important regulator of protein turnover. For example, CFLAR is an inhibitor of TNF-induced apoptosis whose proteasome-mediated degradation is regulated by p38 MAPK phosphorylation. Ectodomain shedding of transmembrane proteins is regulated by p38 MAPKs as well. In response to inflammatory stimuli, p38 MAPKs phosphorylate the membrane-associated metalloprotease ADAM17. Such phosphorylation is required for ADAM17-mediated ectodomain shedding of TGF-alpha family ligands, which results in the activation of EGFR signaling and cell proliferation. Additional examples of p38 MAPK substrates are the FGFR1. FGFR1 can be translocated from the extracellular space into the cytosol and nucleus of target cells, and regulates processes such as rRNA synthesis and cell growth. FGFR1 translocation requires p38 MAPK activation. In the nucleus, many transcription factors are phosphorylated and activated by p38 MAPKs in response to different stimuli. Classical examples include ATF1, ATF2, ATF6, ELK1, PTPRH, DDIT3, TP53/p53 and MEF2C and MEF2A. The p38 MAPKs are emerging as important modulators of gene expression by regulating chromatin modifiers and remodelers. The promoters of several genes involved in the inflammatory response, such as IL6, IL8 and IL12B, display a p38 MAPK-dependent enrichment of histone H3 phosphorylation on \'Ser-10\' (H3S10ph) in LPS-stimulated myeloid cells. This phosphorylation enhances the accessibility of the cryptic NF-kappa-B-binding sites marking promoters for increased NF-kappa-B recruitment.',NULL,NULL,NULL,NULL,NULL),(16393,'UniProt Function',NULL,19483,NULL,'Receptor for kinesin thus involved in kinesin-driven vesicle motility. Accumulates in integrin-based adhesion complexes (IAC) upon integrin aggregation by fibronectin.',NULL,NULL,NULL,NULL,NULL),(16394,'UniProt Function',NULL,19484,NULL,'Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK13 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK13 is one of the less studied p38 MAPK isoforms. Some of the targets are downstream kinases such as MAPKAPK2, which are activated through phosphorylation and further phosphorylate additional targets. Plays a role in the regulation of protein translation by phosphorylating and inactivating EEF2K. Involved in cytoskeletal remodeling through phosphorylation of MAPT and STMN1. Mediates UV irradiation induced up-regulation of the gene expression of CXCL14. Plays an important role in the regulation of epidermal keratinocyte differentiation, apoptosis and skin tumor development. Phosphorylates the transcriptional activator MYB in response to stress which leads to rapid MYB degradation via a proteasome-dependent pathway. MAPK13 also phosphorylates and down-regulates PRKD1 during regulation of insulin secretion in pancreatic beta cells.',NULL,NULL,NULL,NULL,NULL),(16395,'UniProt Function',NULL,19485,NULL,'Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK14 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases which are activated through phosphorylation and further phosphorylate additional targets. RPS6KA5/MSK1 and RPS6KA4/MSK2 can directly phosphorylate and activate transcription factors such as CREB1, ATF1, the NF-kappa-B isoform RELA/NFKB3, STAT1 and STAT3, but can also phosphorylate histone H3 and the nucleosomal protein HMGN1. RPS6KA5/MSK1 and RPS6KA4/MSK2 play important roles in the rapid induction of immediate-early genes in response to stress or mitogenic stimuli, either by inducing chromatin remodeling or by recruiting the transcription machinery. On the other hand, two other kinase targets, MAPKAPK2/MK2 and MAPKAPK3/MK3, participate in the control of gene expression mostly at the post-transcriptional level, by phosphorylating ZFP36 (tristetraprolin) and ELAVL1, and by regulating EEF2K, which is important for the elongation of mRNA during translation. MKNK1/MNK1 and MKNK2/MNK2, two other kinases activated by p38 MAPKs, regulate protein synthesis by phosphorylating the initiation factor EIF4E2. MAPK14 interacts also with casein kinase II, leading to its activation through autophosphorylation and further phosphorylation of TP53/p53. In the cytoplasm, the p38 MAPK pathway is an important regulator of protein turnover. For example, CFLAR is an inhibitor of TNF-induced apoptosis whose proteasome-mediated degradation is regulated by p38 MAPK phosphorylation. In a similar way, MAPK14 phosphorylates the ubiquitin ligase SIAH2, regulating its activity towards EGLN3. MAPK14 may also inhibit the lysosomal degradation pathway of autophagy by interfering with the intracellular trafficking of the transmembrane protein ATG9. Another function of MAPK14 is to regulate the endocytosis of membrane receptors by different mechanisms that impinge on the small GTPase RAB5A. In addition, clathrin-mediated EGFR internalization induced by inflammatory cytokines and UV irradiation depends on MAPK14-mediated phosphorylation of EGFR itself as well as of RAB5A effectors. Ectodomain shedding of transmembrane proteins is regulated by p38 MAPKs as well. In response to inflammatory stimuli, p38 MAPKs phosphorylate the membrane-associated metalloprotease ADAM17. Such phosphorylation is required for ADAM17-mediated ectodomain shedding of TGF-alpha family ligands, which results in the activation of EGFR signaling and cell proliferation. Another p38 MAPK substrate is FGFR1. FGFR1 can be translocated from the extracellular space into the cytosol and nucleus of target cells, and regulates processes such as rRNA synthesis and cell growth. FGFR1 translocation requires p38 MAPK activation. In the nucleus, many transcription factors are phosphorylated and activated by p38 MAPKs in response to different stimuli. Classical examples include ATF1, ATF2, ATF6, ELK1, PTPRH, DDIT3, TP53/p53 and MEF2C and MEF2A. The p38 MAPKs are emerging as important modulators of gene expression by regulating chromatin modifiers and remodelers. The promoters of several genes involved in the inflammatory response, such as IL6, IL8 and IL12B, display a p38 MAPK-dependent enrichment of histone H3 phosphorylation on \'Ser-10\' (H3S10ph) in LPS-stimulated myeloid cells. This phosphorylation enhances the accessibility of the cryptic NF-kappa-B-binding sites marking promoters for increased NF-kappa-B recruitment. Phosphorylates CDC25B and CDC25C which is required for binding to 14-3-3 proteins and leads to initiation of a G2 delay after ultraviolet radiation. Phosphorylates TIAR following DNA damage, releasing TIAR from GADD45A mRNA and preventing mRNA degradation. The p38 MAPKs may also have kinase-independent roles, which are thought to be due to the binding to targets in the absence of phosphorylation. Protein O-Glc-N-acylation catalyzed by the OGT is regulated by MAPK14, and, although OGT does not seem to be phosphorylated by MAPK14, their interaction increases upon MAPK14 activation induced by glucose deprivation. This interaction may regulate OGT activity by recruiting it to specific targets such as neurofilament H, stimulating its O-Glc-N-acylation. Required in mid-fetal development for the growth of embryo-derived blood vessels in the labyrinth layer of the placenta. Also plays an essential role in developmental and stress-induced erythropoiesis, through regulation of EPO gene expression. Isoform MXI2 activation is stimulated by mitogens and oxidative stress and only poorly phosphorylates ELK1 and ATF2. Isoform EXIP may play a role in the early onset of apoptosis. Phosphorylates S100A9 at \'Thr-113\'.',NULL,NULL,NULL,NULL,NULL),(16396,'UniProt Function',NULL,19485,NULL,'(Microbial infection) Activated by phosphorylation by M.tuberculosis EsxA in T-cells leading to inhibition of IFN-gamma production; phosphorylation is apparent within 15 minute and is inhibited by kinase-specific inhibitors SB203580 and siRNA (PubMed:21586573).',NULL,NULL,NULL,NULL,NULL),(16397,'UniProt Function',NULL,19486,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(16398,'UniProt Function',NULL,19487,NULL,'Modulates secretion by lacrimal acinar cells.',NULL,NULL,NULL,NULL,NULL),(16399,'UniProt Function',NULL,19488,NULL,'Stimulates mRNA translation.',NULL,NULL,NULL,NULL,NULL),(16400,'UniProt Function',NULL,19489,NULL,'Negative transcriptional regulator of polymerase II genes, acting by means of the 7SK RNP system. Within the 7SK RNP complex, the positive transcription elongation factor b (P-TEFb) is sequestered in an inactive form, preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation.',NULL,NULL,NULL,NULL,NULL),(16401,'UniProt Function',NULL,19490,NULL,'Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.',NULL,NULL,NULL,NULL,NULL),(16402,'UniProt Function',NULL,19491,NULL,'Major protein in sweat, has surfactant properties.',NULL,NULL,NULL,NULL,NULL),(16403,'UniProt Function',NULL,19492,NULL,'Might play a role in cell proliferation.',NULL,NULL,NULL,NULL,NULL),(16404,'UniProt Function',NULL,19493,NULL,'Can degrade fibronectin, laminin, gelatins of type I, III, IV, and V; collagens III, IV, X, and IX, and cartilage proteoglycans. Activates procollagenase.',NULL,NULL,NULL,NULL,NULL),(16405,'UniProt Function',NULL,19494,NULL,'Can degrade fibrillar type I, II, and III collagens.',NULL,NULL,NULL,NULL,NULL),(16406,'UniProt Function',NULL,19495,NULL,'May bind a variety of ligands including lipids.',NULL,NULL,NULL,NULL,NULL),(16407,'UniProt Function',NULL,19496,NULL,'Binds cAMP regulatory element DNA sequence. May play a role in RNA splicing.',NULL,NULL,NULL,NULL,NULL),(16408,'UniProt Function',NULL,19497,NULL,'Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.',NULL,NULL,NULL,NULL,NULL),(16409,'UniProt Function',NULL,19498,NULL,'May play a role in male fertility. May act as a retinoid carrier protein within the epididymis.',NULL,NULL,NULL,NULL,NULL),(16410,'UniProt Function',NULL,19500,NULL,'A structural component of the cornified envelope of the stratum corneum involved in innate cutaneous host defense (Probable). Possesses defensin-like antimicrobial activity against a broad spectrum of Gram-positive and Gram-negative bacteria, both aerobic and anaerobic species. Upon inflammation, may regulate skin barrier repair by shaping cutaneous microbiota composition and immune response to bacterial antigens (PubMed:28634035).',NULL,NULL,NULL,NULL,NULL),(16411,'UniProt Function',NULL,19501,NULL,'A structural component of the cornified envelope of the stratum corneum involved in innate cutaneous host defense (Probable). Possesses defensin-like antimicrobial activity against a broad spectrum of Gram-positive and Gram-negative bacteria, both aerobic and anaerobic species. Upon inflammation, may regulate skin barrier repair by shaping cutaneous microbiota composition and immune response to bacterial antigens (PubMed:28634035).',NULL,NULL,NULL,NULL,NULL),(16412,'UniProt Function',NULL,19502,NULL,'May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.',NULL,NULL,NULL,NULL,NULL),(16413,'UniProt Function',NULL,19503,NULL,'Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T-cells, down-regulating IL2 and IFNG production while inducing secretion of transforming growth factor beta. Down-regulates also IgG and IgE production in B-cells as well as IL8, IL10 and TNF secretion. Inhibits proliferation and induces apoptosis in myeloid leukemia cell lines as well as prevents nuclear translocation of NF-kappa-B p65 subunit/RELA and phosphorylation of I-kappa-B alpha/CHUK in these cells. Inhibits the differentiation of peripheral blood precursors towards dendritic cells.',NULL,NULL,NULL,NULL,NULL),(16414,'UniProt Function',NULL,19504,NULL,'Plays a specialized role in the generation of left-right asymmetry during embryogenesis. May act as a negative regulator of the NOTCH-signaling pathway (PubMed:26429889, PubMed:26437028). Cleaves alpha-1-antitrypsin (PubMed:12617721).',NULL,NULL,NULL,NULL,NULL),(16415,'UniProt Function',NULL,19505,NULL,'Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.',NULL,NULL,NULL,NULL,NULL),(16416,'UniProt Function',NULL,19506,NULL,'Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Ladsin exerts cell-scattering activity toward a wide variety of cells, including epithelial, endothelial, and fibroblastic cells.',NULL,NULL,NULL,NULL,NULL),(16417,'UniProt Function',NULL,19507,NULL,'Can degrade casein. Could play a role in tissues homeostasis and repair.',NULL,NULL,NULL,NULL,NULL),(16418,'UniProt Function',NULL,19509,NULL,'Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.',NULL,NULL,NULL,NULL,NULL),(16419,'UniProt Function',NULL,19510,NULL,'Required for TCR (T-cell antigen receptor)- and pre-TCR-mediated signaling, both in mature T-cells and during their development. Involved in FCGR3 (low affinity immunoglobulin gamma Fc region receptor III)-mediated signaling in natural killer cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Couples activation of these receptors and their associated kinases with distal intracellular events such as mobilization of intracellular calcium stores, PKC activation, MAPK activation or cytoskeletal reorganization through the recruitment of PLCG1, GRB2, GRAP2, and other signaling molecules.',NULL,NULL,NULL,NULL,NULL),(16420,'UniProt Function',NULL,19511,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(16421,'UniProt Function',NULL,19512,NULL,'Involved in T-cell antigen receptor mediated signaling.',NULL,NULL,NULL,NULL,NULL),(16422,'UniProt Function',NULL,19513,NULL,'May play a role in neuritogenesis, as well as in neuronal recovery and/or restructuring in the hippocampus following transient cerebral ischemia.',NULL,NULL,NULL,NULL,NULL),(16423,'UniProt Function',NULL,19514,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(16424,'UniProt Function',NULL,19515,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(16425,'UniProt Function',NULL,19516,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(16426,'UniProt Function',NULL,19518,NULL,'May act as transcription activator that binds DNA elements with the sequence 5\'-CCCTATCGATCGATCTCTACCT-3\'. May play a role in spermatogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(16427,'UniProt Function',NULL,19519,NULL,'Putative transcription factor.',NULL,NULL,NULL,NULL,NULL),(16428,'UniProt Function',NULL,19520,NULL,'May act as transcription activator that binds DNA elements with the sequence 5\'-CCCTATCGATCGATCTCTACCT-3\' (By similarity). Repressor of ligand-dependent transcription activation by target nuclear receptors. Repressor of ligand-dependent transcription activation by ESR1, ESR2, NR3C1, PGR, RARA, RARB, RARG, RXRA and VDR.',NULL,NULL,NULL,NULL,NULL),(16429,'UniProt Function',NULL,19521,NULL,'Inhibits endothelial cells motility and acts as a negative regulator of angiogenesis; it downregulates KDR activation by binding VEGFA.',NULL,NULL,NULL,NULL,NULL),(16430,'UniProt Function',NULL,19524,NULL,'Intrinsically disordered protein which may negatively regulate mTOR signaling pathway by stabilizing the mTOR complex component DEPTOR (PubMed:30080879). Negatively regulates angiogenesis (PubMed:29329397). Negatively regulates cell growth (PubMed:29329397, PubMed:30080879). Negatively regulates neurite outgrowth in hippocampal neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(16431,'UniProt Function',NULL,19525,NULL,'Binds galactosides.',NULL,NULL,NULL,NULL,NULL),(16432,'UniProt Function',NULL,19526,NULL,'May act as a tumor suppressor.',NULL,NULL,NULL,NULL,NULL),(16433,'UniProt Function',NULL,19527,NULL,'Binds microtubules. Together with MAPRE1 may target the microtubule depolymerase KIF2C to the plus-end of microtubules. May regulate the dynamics of microtubules at their growing distal tip.',NULL,NULL,NULL,NULL,NULL),(16434,'UniProt Function',NULL,19528,NULL,'Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces.',NULL,NULL,NULL,NULL,NULL),(16435,'UniProt Function',NULL,19529,NULL,'May play a role in tumor progression. Ability to promote tumor growth may be mainly due to repression of apoptosis as opposed to proliferation. Has anti-adhesive properties. Seems to alter cellular behavior through both anti-adhesive effects on cell-cell and cell-extracellular matrix interactions and in its ability to act as an intramembrane ligand for ERBB2. Plays an important role in cell proliferation and differentiation of epithelial cells by inducing specific phosphorylation of ERBB2. The MUC4-ERBB2 complex causes site-specific phosphorylation of the ERBB2 \'Tyr-1248\'. In polarized epithelial cells segregates ERBB2 and other ERBB receptors and prevents ERBB2 from acting as a coreceptor. The interaction with ERBB2 leads to enhanced expression of CDKN1B. The formation of a MUC4-ERBB2-ERBB3-NRG1 complex leads to down-regulation of CDKN1B, resulting in repression of apoptosis and stimulation of proliferation.',NULL,NULL,NULL,NULL,NULL),(16436,'UniProt Function',NULL,19531,NULL,'Plays a role in the regulation of inhibitory synapse formation and function by being involved in maintening gamma-aminobutyric acid receptors (GABAARs) clustering and their associated scaffold proteins at inhibitory synaptic sites. Acts in concert with NLGN2 to recruit or stabilize GABAARs.',NULL,NULL,NULL,NULL,NULL),(16437,'UniProt Function',NULL,19533,NULL,'As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose.',NULL,NULL,NULL,NULL,NULL),(16438,'UniProt Function',NULL,19534,NULL,'Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.',NULL,NULL,NULL,NULL,NULL),(16439,'UniProt Function',NULL,19535,NULL,'Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that mediates non-redundant functions in T-cell receptor (TCR) signaling, including T-cells activation, proliferation, differentiation and survival, by mediating activation of multiple transcription factors such as NF-kappa-B, JUN, NFATC1 and NFATC2. In TCR-CD3/CD28-co-stimulated T-cells, is required for the activation of NF-kappa-B and JUN, which in turn are essential for IL2 production, and participates in the calcium-dependent NFATC1 and NFATC2 transactivation. Mediates the activation of the canonical NF-kappa-B pathway (NFKB1) by direct phosphorylation of CARD11 on several serine residues, inducing CARD11 association with lipid rafts and recruitment of the BCL10-MALT1 complex, which then activates IKK complex, resulting in nuclear translocation and activation of NFKB1. May also play an indirect role in activation of the non-canonical NF-kappa-B (NFKB2) pathway. In the signaling pathway leading to JUN activation, acts by phosphorylating the mediator STK39/SPAK and may not act through MAP kinases signaling. Plays a critical role in TCR/CD28-induced NFATC1 and NFATC2 transactivation by participating in the regulation of reduced inositol 1,4,5-trisphosphate generation and intracellular calcium mobilization. After costimulation of T-cells through CD28 can phosphorylate CBLB and is required for the ubiquitination and subsequent degradation of CBLB, which is a prerequisite for the activation of TCR. During T-cells differentiation, plays an important role in the development of T-helper 2 (Th2) cells following immune and inflammatory responses, and, in the development of inflammatory autoimmune diseases, is necessary for the activation of IL17-producing Th17 cells. May play a minor role in Th1 response. Upon TCR stimulation, mediates T-cell protective survival signal by phosphorylating BAD, thus protecting T-cells from BAD-induced apoptosis, and by up-regulating BCL-X(L)/BCL2L1 levels through NF-kappa-B and JUN pathways. In platelets, regulates signal transduction downstream of the ITGA2B, CD36/GP4, F2R/PAR1 and F2RL3/PAR4 receptors, playing a positive role in \'outside-in\' signaling and granule secretion signal transduction. May relay signals from the activated ITGA2B receptor by regulating the uncoupling of WASP and WIPF1, thereby permitting the regulation of actin filament nucleation and branching activity of the Arp2/3 complex. May mediate inhibitory effects of free fatty acids on insulin signaling by phosphorylating IRS1, which in turn blocks IRS1 tyrosine phosphorylation and downstream activation of the PI3K/AKT pathway. Phosphorylates MSN (moesin) in the presence of phosphatidylglycerol or phosphatidylinositol. Phosphorylates PDPK1 at \'Ser-504\' and \'Ser-532\' and negatively regulates its ability to phosphorylate PKB/AKT1.',NULL,NULL,NULL,NULL,NULL),(16440,'UniProt Function',NULL,19536,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16441,'UniProt Function',NULL,19537,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16442,'UniProt Function',NULL,19538,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16443,'UniProt Function',NULL,19539,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).',NULL,NULL,NULL,NULL,NULL),(16444,'UniProt Function',NULL,19540,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16445,'UniProt Function',NULL,19541,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).',NULL,NULL,NULL,NULL,NULL),(16446,'UniProt Function',NULL,19542,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16447,'UniProt Function',NULL,19543,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16448,'UniProt Function',NULL,19544,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16449,'UniProt Function',NULL,19546,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16450,'UniProt Function',NULL,19547,NULL,'Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1 and histone H3 at \'Ser-10\', which results in the subsequent transcriptional activation of several immediate-early genes. In response to mitogenic stimulation (EGF and PMA), phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP. Upon insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at \'Ser-9\' and inhibiting its activity. Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism and promotes translation initiation by facilitating assembly of the preinitiation complex. In response to insulin, phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation. Is involved in the mTOR nutrient-sensing pathway by directly phosphorylating TSC2 at \'Ser-1798\', which potently inhibits TSC2 ability to suppress mTOR signaling, and mediates phosphorylation of RPTOR, which regulates mTORC1 activity and may promote rapamycin-sensitive signaling independently of the PI3K/AKT pathway. Mediates cell survival by phosphorylating the pro-apoptotic proteins BAD and DAPK1 and suppressing their pro-apoptotic function. Promotes the survival of hepatic stellate cells by phosphorylating CEBPB in response to the hepatotoxin carbon tetrachloride (CCl4). Is involved in cell cycle regulation by phosphorylating the CDK inhibitor CDKN1B, which promotes CDKN1B association with 14-3-3 proteins and prevents its translocation to the nucleus and inhibition of G1 progression. In LPS-stimulated dendritic cells, is involved in TLR4-induced macropinocytosis, and in myeloma cells, acts as effector of FGFR3-mediated transformation signaling, after direct phosphorylation at Tyr-529 by FGFR3. Negatively regulates EGF-induced MAPK1/3 phosphorylation via phosphorylation of SOS1. Phosphorylates SOS1 at \'Ser-1134\' and \'Ser-1161\' that create YWHAB and YWHAE binding sites and which contribute to the negative regulation of MAPK1/3 phosphorylation (By similarity). Phosphorylates EPHA2 at \'Ser-897\', the RPS6KA-EPHA2 signaling pathway controls cell migration (PubMed:26158630).',NULL,NULL,NULL,NULL,NULL),(16451,'UniProt Function',NULL,19548,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16452,'UniProt Function',NULL,19549,NULL,'Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factor RELA, and that contributes to gene activation by histone phosphorylation and functions in the regulation of inflammatory genes. Phosphorylates CREB1 and ATF1 in response to mitogenic or stress stimuli such as UV-C irradiation, epidermal growth factor (EGF) and anisomycin. Plays an essential role in the control of RELA transcriptional activity in response to TNF. Phosphorylates \'Ser-10\' of histone H3 in response to mitogenics, stress stimuli and EGF, which results in the transcriptional activation of several immediate early genes, including proto-oncogenes c-fos/FOS and c-jun/JUN. May also phosphorylate \'Ser-28\' of histone H3. Mediates the mitogen- and stress-induced phosphorylation of high mobility group protein 1 (HMGN1/HMG14). In lipopolysaccharide-stimulated primary macrophages, acts downstream of the Toll-like receptor TLR4 to limit the production of pro-inflammatory cytokines. Functions probably by inducing transcription of the MAP kinase phosphatase DUSP1 and the anti-inflammatory cytokine interleukin 10 (IL10), via CREB1 and ATF1 transcription factors.',NULL,NULL,NULL,NULL,NULL),(16453,'UniProt Function',NULL,19550,NULL,'Necessary for abscisic acid (ABA) binding on the cell membrane and activation of the ABA signaling pathway in granulocytes.',NULL,NULL,NULL,NULL,NULL),(16454,'UniProt Function',NULL,19551,NULL,'May have a special functional role during embryogenesis and in adult hematopoietic cells.',NULL,NULL,NULL,NULL,NULL),(16455,'UniProt Function',NULL,19552,NULL,'Serine lipid hydrolase associated with lipid droplets. Highly expressed in macrophage-rich areas in atherosclerotic lesions, suggesting that it could promote cholesterol ester turnover in macrophages.',NULL,NULL,NULL,NULL,NULL),(16456,'UniProt Function',NULL,19553,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(16457,'UniProt Function',NULL,19554,NULL,'May play a role in male fertility.',NULL,NULL,NULL,NULL,NULL),(16458,'UniProt Function',NULL,19555,NULL,'A structural component of the cornified envelope of the stratum corneum involved in innate cutaneous host defense (Probable). Possesses defensin-like antimicrobial activity against a broad spectrum of Gram-positive and Gram-negative bacteria, both aerobic and anaerobic species. Upon inflammation, may regulate skin barrier repair by shaping cutaneous microbiota composition and immune response to bacterial antigens (PubMed:28634035).',NULL,NULL,NULL,NULL,NULL),(16459,'UniProt Function',NULL,19556,NULL,'Release of an N-terminal amino acid, cleaves before cysteine, leucine as well as other amino acids. Degrades peptide hormones such as oxytocin, vasopressin and angiotensin III, and plays a role in maintaining homeostasis during pregnancy. May be involved in the inactivation of neuronal peptides in the brain. Cleaves Met-enkephalin and dynorphin. Binds angiotensin IV and may be the angiotensin IV receptor in the brain.',NULL,NULL,NULL,NULL,NULL),(16460,'UniProt Function',NULL,19557,NULL,'Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.',NULL,NULL,NULL,NULL,NULL),(16461,'UniProt Function',NULL,19558,NULL,'Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull (By similarity). May play a role in tumor suppression (Probable).',NULL,NULL,NULL,NULL,NULL),(16462,'UniProt Function',NULL,19560,NULL,'Regulates immune responses through the recognition of cell-surface glycans. Essential for the anergy and suppressive function of CD25-positive regulatory T-cells (Treg).',NULL,NULL,NULL,NULL,NULL),(16463,'UniProt Function',NULL,19561,NULL,'Has a neutrophil chemotactic activity. Also a positive regulator of chondrocyte proliferation (PubMed:9524238). Does not show metalloendopeptidase activity (PubMed:27334921).',NULL,NULL,NULL,NULL,NULL),(16464,'UniProt Function',NULL,19562,NULL,'Plays a role in cell adhesion, and in cohesion of the endothelial monolayer at intercellular junctions in vascular tissue. Its expression may allow melanoma cells to interact with cellular elements of the vascular system, thereby enhancing hematogeneous tumor spread. Could be an adhesion molecule active in neural crest cells during embryonic development. Acts as surface receptor that triggers tyrosine phosphorylation of FYN and PTK2/FAK1, and a transient increase in the intracellular calcium concentration.',NULL,NULL,NULL,NULL,NULL),(16465,'UniProt Function',NULL,19563,NULL,'Coats the epithelia of the intestines, airways, and other mucus membrane-containing organs. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. Major constituent of both the inner and outer mucus layers of the colon and may play a role in excluding bacteria from the inner mucus layer.',NULL,NULL,NULL,NULL,NULL),(16466,'UniProt Function',NULL,19564,NULL,'Endothelial sialomucin, also called endomucin or mucin-like sialoglycoprotein, which interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(16467,'UniProt Function',NULL,19565,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16468,'UniProt Function',NULL,19566,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16469,'UniProt Function',NULL,19567,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16470,'UniProt Function',NULL,19568,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16471,'UniProt Function',NULL,19569,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16472,'UniProt Function',NULL,19570,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16473,'UniProt Function',NULL,19571,NULL,'Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress (By similarity).',NULL,NULL,NULL,NULL,NULL),(16474,'UniProt Function',NULL,19572,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16475,'UniProt Function',NULL,19573,NULL,'In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.',NULL,NULL,NULL,NULL,NULL),(16476,'UniProt Function',NULL,19574,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(16477,'UniProt Function',NULL,19575,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(16478,'UniProt Function',NULL,19576,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(16479,'UniProt Function',NULL,19577,NULL,'V segment of the variable domain of immunoglobulins light chain that participates to the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(16480,'UniProt Function',NULL,19578,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(16481,'UniProt Function',NULL,19579,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(16482,'UniProt Function',NULL,19580,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(16483,'UniProt Function',NULL,19581,NULL,'V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).',NULL,NULL,NULL,NULL,NULL),(16484,'UniProt Function',NULL,19583,NULL,'Mitochondrial serine protease that acts as a regulator of mitochondrial lipid metabolism (PubMed:28329758). Acts by decreasing protein levels of PISD, a mitochondrial enzyme that converts phosphatidylserine (PtdSer) to phosphatidylethanolamine (PtdEtn), thereby affecting mitochondrial lipid metabolism (PubMed:28329758). It is unclear whether it acts directly by mediating proteolysis of PISD or by mediating proteolysis of another lipid metabolism protein (PubMed:28329758). Acts as a tumor suppressor that has the ability to inhibit proliferation of multiple types of breast cancer cells: probably by promoting decreased levels of PISD, thereby affecting mitochondrial lipid metabolism (PubMed:28329758).',NULL,NULL,NULL,NULL,NULL),(16485,'UniProt Function',NULL,19584,NULL,'Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes.',NULL,NULL,NULL,NULL,NULL),(16486,'UniProt Function',NULL,19585,NULL,'Endoribonuclease; cleaves preferentially 3\' to purine-pyrimidine dinucleotide motifs in single-stranded RNA. The cleavage product contains a free 3\' -OH group. Has no activity with double-stranded RNA or DNA. Required for normal mitochondrial function and cell viability.',NULL,NULL,NULL,NULL,NULL),(16487,'UniProt Function',NULL,19588,NULL,'Precursors of the cornified envelope of the stratum corneum.',NULL,NULL,NULL,NULL,NULL),(16488,'UniProt Function',NULL,19590,NULL,'May regulate MET signaling cascade. Seems to decrease hepatocyte growth factor (HGF)-induced transient MAPK activation. Blocks GRB2 recruitment to MET thus suppressing the GRB2-RAS pathway. Inhibits HGF-induced proliferation of MMP1 and MMP9 expression.',NULL,NULL,NULL,NULL,NULL),(16489,'UniProt Function',NULL,19591,NULL,'Potential apoptotic regulator.',NULL,NULL,NULL,NULL,NULL),(16490,'UniProt Function',NULL,19592,NULL,'Anti-apoptotic protein which can inhibit apoptosis induced by intrinsic and extrinsic apoptotic stimuli. Can modulate both capacitative Ca2+ entry and inositol 1,4,5-trisphosphate (IP3)-mediated Ca2+ release.',NULL,NULL,NULL,NULL,NULL),(16491,'UniProt Function',NULL,19593,NULL,'Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16492,'UniProt Function',NULL,19595,NULL,'May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates (By similarity).',NULL,NULL,NULL,NULL,NULL),(16493,'UniProt Function',NULL,19596,NULL,'Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix (PubMed:11401429, PubMed:18384665). Required for normal expression of the mitochondrial respiratory complex I subunits (PubMed:18384665).',NULL,NULL,NULL,NULL,NULL),(16494,'UniProt Function',NULL,19598,NULL,'Seems to be a major component of sperm tail outer dense fibers (ODF). ODFs are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail. May have a modulating influence on sperm motility. Functions as a general scaffold protein that is specifically localized at the distal/subdistal appendages of mother centrioles. Component of the centrosome matrix required for the localization of PLK1 and NIN to the centrosomes. Required for the formation and/or maintenance of normal CETN1 assembly.',NULL,NULL,NULL,NULL,NULL),(16495,'UniProt Function',NULL,19599,NULL,'Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis.',NULL,NULL,NULL,NULL,NULL),(16496,'UniProt Function',NULL,19600,NULL,'Involved in specifying the paraxial, but not dorsal, mesoderm. May regulate the expression of T-box transcription factors required for mesoderm formation and differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16497,'UniProt Function',NULL,19601,NULL,'Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Recruits DNA helicase MCM9 to chromatin which unwinds the mismatch containg DNA strand (PubMed:26300262). ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. In melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis.',NULL,NULL,NULL,NULL,NULL),(16498,'UniProt Function',NULL,19602,NULL,'Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis.',NULL,NULL,NULL,NULL,NULL),(16499,'UniProt Function',NULL,19603,NULL,'Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.',NULL,NULL,NULL,NULL,NULL),(16500,'UniProt Function',NULL,19604,NULL,'RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity).',NULL,NULL,NULL,NULL,NULL),(16501,'UniProt Function',NULL,19605,NULL,'Promotes migration of primary monocytes and neutrophils, in response to various chemokines.',NULL,NULL,NULL,NULL,NULL),(16502,'UniProt Function',NULL,19606,NULL,'Membrane glycoproteins implicated in the pathologic deposition of cholesterol in arterial walls during atherogenesis. Two types of receptor subunits exist. These receptors mediate the endocytosis of a diverse group of macromolecules, including modified low density lipoproteins (LDL) (PubMed:2251254). Isoform III does not internalize acetylated LDL (PubMed:9548586).',NULL,NULL,NULL,NULL,NULL),(16503,'UniProt Function',NULL,19607,NULL,'Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.',NULL,NULL,NULL,NULL,NULL),(16504,'UniProt Function',NULL,19608,NULL,'Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.',NULL,NULL,NULL,NULL,NULL),(16505,'UniProt Function',NULL,19609,NULL,'Protein-lysine methyltransferase that selectively trimethylates residues in heat shock protein 70 (HSP70) family members. Contributes to the in vivo trimethylation of Lys residues in HSPA1 and HSPA8. In vitro methylates \'Lys-561\' in HSPA1, \'Lys-564\' in HSPA2, \'Lys-585\' in HSPA5, \'Lys-563\' in HSPA6 and \'Lys-561\' in HSPA8.',NULL,NULL,NULL,NULL,NULL),(16506,'UniProt Function',NULL,19610,NULL,'Protein-lysine methyltransferase.',NULL,NULL,NULL,NULL,NULL),(16507,'UniProt Function',NULL,19611,NULL,'Isoform 1: Cleaves GlcNAc but not GalNAc from O-glycosylated proteins. Can use p-nitrophenyl-beta-GlcNAc and 4-methylumbelliferone-GlcNAc as substrates but not p-nitrophenyl-beta-GalNAc or p-nitrophenyl-alpha-GlcNAc (in vitro) (PubMed:11148210). Does not bind acetyl-CoA and does not have histone acetyltransferase activity (PubMed:24088714).',NULL,NULL,NULL,NULL,NULL),(16508,'UniProt Function',NULL,19611,NULL,'Isoform 3: Cleaves GlcNAc but not GalNAc from O-glycosylated proteins. Can use p-nitrophenyl-beta-GlcNAc as substrate but not p-nitrophenyl-beta-GalNAc or p-nitrophenyl-alpha-GlcNAc (in vitro), but has about six times lower specific activity than isoform 1.',NULL,NULL,NULL,NULL,NULL),(16509,'UniProt Function',NULL,19612,NULL,'Transcriptional coregulator which can act as both a transcriptional corepressor and coactivator. As a part of the histone-deacetylase multiprotein complex (NuRD), regulates transcription of its targets by modifying the acetylation status of the target chromatin and cofactor accessibility to the target DNA. In conjunction with other components of NuRD, acts as a transcriptional corepressor of BRCA1, ESR1, TFF1 and CDKN1A. Acts as a transcriptional coactivator of BCAS3, PAX5 and SUMO2, independent of the NuRD complex. Stimulates the expression of WNT1 by inhibiting the expression of its transcriptional corepressor SIX3. Regulates p53-dependent and -independent DNA repair processes following genotoxic stress. Regulates the stability and function of p53/TP53 by inhibiting its ubiquitination by COP1 and MDM2 thereby regulating the p53-dependent DNA repair. Plays an important role in tumorigenesis, tumor invasion, and metastasis. Involved in the epigenetic regulation of ESR1 expression in breast cancer in a TFAP2C, IFI16 and HDAC4/5/6-dependent manner. Plays a role in the regulation of the circadian clock and is essential for the generation and maintenance of circadian rhythms under constant light and for normal entrainment of behavior to light-dark (LD) cycles. Positively regulates the CLOCK-ARNTL/BMAL1 heterodimer mediated transcriptional activation of its own transcription and the transcription of CRY1. Regulates deacetylation of ARNTL/BMAL1 by regulating SIRT1 expression, resulting in derepressing CRY1-mediated transcription repression. Isoform Short binds to ESR1 and sequesters it in the cytoplasm and enhances its non-genomic responses. With TFCP2L1, promotes establishment and maintenance of pluripotency in embryonic stem cells (ESCs) and inhibits endoderm differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16510,'UniProt Function',NULL,19613,NULL,'Plays a role in maintenance of the normal epithelial architecture through the repression of SNAI1 transcription in a histone deacetylase-dependent manner, and thus the regulation of E-cadherin levels. Contributes to transcriptional repression by BCL6.',NULL,NULL,NULL,NULL,NULL),(16511,'UniProt Function',NULL,19614,NULL,'The METTL3-METTL14 heterodimer forms a N6-methyltransferase complex that methylates adenosine residues at the N(6) position of some RNAs and regulates various processes such as the circadian clock, differentiation of embryonic and haematopoietic stem cells, cortical neurogenesis, response to DNA damage, differentiation of T-cells and primary miRNA processing (PubMed:22575960, PubMed:24284625, PubMed:25719671, PubMed:25799998, PubMed:26321680, PubMed:26593424, PubMed:27627798, PubMed:27373337, PubMed:27281194, PubMed:28297716, PubMed:29506078, PubMed:29348140, PubMed:9409616). In the heterodimer formed with METTL14, METTL3 constitutes the catalytic core (PubMed:27627798, PubMed:27373337, PubMed:27281194). N6-methyladenosine (m6A), which takes place at the 5\'-[AG]GAC-3\' consensus sites of some mRNAs, plays a role in mRNA stability, processing, translation efficiency and editing (PubMed:22575960, PubMed:24284625, PubMed:25719671, PubMed:25799998, PubMed:26321680, PubMed:26593424, PubMed:28297716, PubMed:9409616). M6A acts as a key regulator of mRNA stability: methylation is completed upon the release of mRNA into the nucleoplasm and promotes mRNA destabilization and degradation (PubMed:28637692). In embryonic stem cells (ESCs), m6A methylation of mRNAs encoding key naive pluripotency-promoting transcripts results in transcript destabilization, promoting differentiation of ESCs (By similarity). M6A regulates the length of the circadian clock: acts as an early pace-setter in the circadian loop by putting mRNA production on a fast-track for facilitating nuclear processing, thereby providing an early point of control in setting the dynamics of the feedback loop (By similarity). M6A regulates spermatogonial differentiation and meiosis and is essential for male fertility and spermatogenesis (By similarity). Involved in the response to DNA damage: in response to ultraviolet irradiation, METTL3 rapidly catalyzes the formation of m6A on poly(A) transcripts at DNA damage sites, leading to the recruitment of POLK to DNA damage sites (PubMed:28297716). M6A is also required for T-cell homeostasis and differentiation: m6A methylation of transcripts of SOCS family members (SOCS1, SOCS3 and CISH) in naive T-cells promotes mRNA destabilization and degradation, promoting T-cell differentiation (By similarity). M6A also takes place in other RNA molecules, such as primary miRNA (pri-miRNAs) (PubMed:25799998). Mediates m6A methylation of Xist RNA, thereby participating in random X inactivation: m6A methylation of Xist leads to target YTHDC1 reader on Xist and promote transcription repression activity of Xist (PubMed:27602518). M6A also regulates cortical neurogenesis: m6A methylation of transcripts related to transcription factors, neural stem cells, the cell cycle and neuronal differentiation during brain development promotes their destabilization and decay, promoting differentiation of radial glial cells (By similarity). METTL3 mediates methylation of pri-miRNAs, marking them for recognition and processing by DGCR8 (PubMed:25799998). Acts as a positive regulator of mRNA translation independently of the methyltransferase activity: promotes translation by interacting with the translation initiation machinery in the cytoplasm (PubMed:27117702). Its overexpression in a number of cancer cells suggests that it may participate to cancer cell proliferation by promoting mRNA translation (PubMed:27117702).',NULL,NULL,NULL,NULL,NULL),(16512,'UniProt Function',NULL,19615,NULL,'Proton-sensing receptor involved in pH homeostasis. May represents an osteoblastic pH sensor regulating cell-mediated responses to acidosis in bone. Mediates its action by association with G proteins that stimulates inositol phosphate (IP) production or Ca(2+) mobilization. The receptor is almost silent at pH 7.8 but fully activated at pH 6.8. Function also as a metastasis suppressor gene in prostate cancer (By similarity).',NULL,NULL,NULL,NULL,NULL),(16513,'UniProt Function',NULL,19617,NULL,'Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding. Promotes base flipping. Transcription termination activity appears to be polarized with highest specificity for transcripts initiated on the light strand.',NULL,NULL,NULL,NULL,NULL),(16514,'UniProt Function',NULL,19618,NULL,'Binds mitochondrial DNA and plays a role in the regulation of transcription of mitochondrial mRNA and rRNA species.',NULL,NULL,NULL,NULL,NULL),(16515,'UniProt Function',NULL,19619,NULL,'Involved in the mitochondrial division probably by regulating membrane fission. Loss-of-function induces the release of cytochrome c, which activates the caspase cascade and leads to apoptosis.',NULL,NULL,NULL,NULL,NULL),(16516,'UniProt Function',NULL,19620,NULL,'May play a role in mitochondrial aerobic respiration essentially in the testis. Can also promote mitochondrial fission (By similarity).',NULL,NULL,NULL,NULL,NULL),(16517,'UniProt Function',NULL,19621,NULL,'Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway (PubMed:25974097). Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulating the expression of glycolytic genes including PFKFB3, PFKFB4, PDK1, PFKP, LDHA and HK1 which are direct targets of HIF1A (PubMed:23840896, PubMed:25974097). Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Plays a role in granulocyte differentiation (PubMed:15231665).',NULL,NULL,NULL,NULL,NULL),(16518,'UniProt Function',NULL,19621,NULL,'Isoform 2 functions as an A-kinase-anchoring protein (PubMed:11823486).',NULL,NULL,NULL,NULL,NULL),(16519,'UniProt Function',NULL,19622,NULL,'Secreted scaffold protein that plays an essential role in dorsoventral patterning during early development. Stabilizes axial formation by restricting chordin (CHRD) activity on the dorsal side. Acts by facilitating the association between the tolloid proteases and their substrate chordin (CHRD), leading to enhance chordin (CHRD) degradation (By similarity). May have matrix-related function involved in placental and embryonic development, or play a similar role in other physiological processes.',NULL,NULL,NULL,NULL,NULL),(16520,'UniProt Function',NULL,19623,NULL,'Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids. Catalyzes the irreversible conversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10-methenyltetrahydrofolate.',NULL,NULL,NULL,NULL,NULL),(16521,'UniProt Function',NULL,19624,NULL,'Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.',NULL,NULL,NULL,NULL,NULL),(16522,'UniProt Function',NULL,19626,NULL,'May be implicated in biomineralization processes. Has a function in binding of osteoblasts via the alpha(V)beta(3)-integrin (By similarity).',NULL,NULL,NULL,NULL,NULL),(16523,'UniProt Function',NULL,19627,NULL,'Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. Has a role in several intracellular trafficking events. Functions in insulin signaling and secretion. Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane and glucose uptake in response to insulin-mediated RHOQ activation. Regulates insulin secretion through two different mechanisms: involved in glucose-induced insulin secretion downstream of insulin receptor in a pathway that involves AKT1 activation and TBC1D4/AS160 phosphorylation, and participates in the late step of insulin granule exocytosis probably in insulin granule fusion. Synthesizes PtdIns3P in response to insulin signaling. Functions in clathrin-coated endocytic vesicle formation and distribution. Regulates dynamin-independent endocytosis, probably by recruiting EEA1 to internalizing vesicles. In neurosecretory cells synthesizes PtdIns3P on large dense core vesicles. Participates in calcium induced contraction of vascular smooth muscle by regulating myosin light chain (MLC) phosphorylation through a mechanism involving Rho kinase-dependent phosphorylation of the MLCP-regulatory subunit MYPT1. May play a role in the EGF signaling cascade. May be involved in mitosis and UV-induced damage response. Required for maintenance of normal renal structure and function by supporting normal podocyte function.',NULL,NULL,NULL,NULL,NULL),(16524,'UniProt Function',NULL,19628,NULL,'Phosphorylates PtdIns and PtdIns4P with a preference for PtdIns. Does not phosphorylate PtdIns(4,5)P2. May be involved in EGF and PDGF signaling cascades.',NULL,NULL,NULL,NULL,NULL),(16525,'UniProt Function',NULL,19629,NULL,'Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers.',NULL,NULL,NULL,NULL,NULL),(16526,'UniProt Function',NULL,19630,NULL,'Involved in the reductive regeneration of cob(I)alamin (vitamin B12) cofactor required for the maintenance of methionine synthase in a functional state. Necessary for utilization of methylgroups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Folate pathway donates methyl groups necessary for cellular methylation and affects different pathways such as DNA methylation, possibly explaining the transgenerational epigenetic inheritance effects.',NULL,NULL,NULL,NULL,NULL),(16527,'UniProt Function',NULL,19631,NULL,'May have a role in hematopoietic cell differentiation.',NULL,NULL,NULL,NULL,NULL),(16528,'UniProt Function',NULL,19632,NULL,'Stress-activated component of a protein kinase signal transduction cascade. Regulates the JNK and p38 pathways. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Pro-apoptotic. Role in regulation of S and G2 cell cycle checkpoint by direct phosphorylation of CHEK2 (PubMed:10924358, PubMed:11836244, PubMed:15342622, PubMed:21224381). Involved in limb development (PubMed:26755636).',NULL,NULL,NULL,NULL,NULL),(16529,'UniProt Function',NULL,19632,NULL,'Isoform 1: Phosphorylates histone H3 at \'Ser-28\' (PubMed:15684425). May have role in neoplastic cell transformation and cancer development (PubMed:15172994). Causes cell shrinkage and disruption of actin stress fibers (PubMed:11042189).',NULL,NULL,NULL,NULL,NULL),(16530,'UniProt Function',NULL,19633,NULL,'Promotes sorting of SMDT1/EMRE in mitochondria by ensuring its maturation (PubMed:27642048). Interacts with the transit peptide region of SMDT1/EMRE precursor protein in the mitochondrial matrix, leading to protect it against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB) (PubMed:27642048).',NULL,NULL,NULL,NULL,NULL),(16531,'UniProt Function',NULL,19635,NULL,'Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade through the phosphorylation of MAP2K4/MKK4 and MAP2K7/MKK7 which in turn activate the JNKs. The MKK/JNK signaling pathway regulates stress response via activator protein-1 (JUN) and GATA4 transcription factors. Plays also a role in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis.',NULL,NULL,NULL,NULL,NULL),(16532,'UniProt Function',NULL,19636,NULL,'Plays a role in cell-cell adhesion through heterophilic trans-interactions with nectin-like proteins or nectins, such as trans-interaction with NECTIN2 at Sertoli-spermatid junctions. Trans-interaction with PVR induces activation of CDC42 and RAC small G proteins through common signaling molecules such as SRC and RAP1. Also involved in the formation of cell-cell junctions, including adherens junctions and synapses. Induces endocytosis-mediated down-regulation of PVR from the cell surface, resulting in reduction of cell movement and proliferation. Plays a role in the morphology of the ciliary body.',NULL,NULL,NULL,NULL,NULL),(16533,'UniProt Function',NULL,19637,NULL,'Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). Required for normal progression through the cell cycle.',NULL,NULL,NULL,NULL,NULL),(16534,'UniProt Function',NULL,19638,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination of CD86 and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. May also promote ubiquitination and endocytosis of TFRC and FAS.',NULL,NULL,NULL,NULL,NULL),(16535,'UniProt Function',NULL,19639,NULL,'Serine/threonine-protein kinase (PubMed:23666762). Involved in cell polarity and microtubule dynamics regulation. Phosphorylates DCX, MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Involved in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins (DVL1, DVL2 and/or DVL3).',NULL,NULL,NULL,NULL,NULL),(16536,'UniProt Function',NULL,19640,NULL,'Microtubule-associated protein that mediates aggregation of mitochondria resulting in cell death and genomic destruction (MAGD). Plays a role in anchoring the microtubule organizing center to the centrosomes. Binds to DNA. Plays a role in apoptosis. Involved in the formation of microtubule bundles (By similarity).',NULL,NULL,NULL,NULL,NULL),(16537,'UniProt Function',NULL,19641,NULL,'Functions in the lectin pathway of complement, which performs a key role in innate immunity by recognizing pathogens through patterns of sugar moieties and neutralizing them. The lectin pathway is triggered upon binding of mannan-binding lectin (MBL) and ficolins to sugar moieties which leads to activation of the associated proteases MASP1 and MASP2. Functions as an endopeptidase and may activate MASP2 or C2 or directly activate C3 the key component of complement reaction. Isoform 2 may have an inhibitory effect on the activation of the lectin pathway of complement or may cleave IGFBP5. Also plays a role in development (PubMed:21258343).',NULL,NULL,NULL,NULL,NULL),(16538,'UniProt Function',NULL,19642,NULL,'Transports arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine (PubMed:24652292). Can restore ornithine transport in cells lacking the primary mitochondrial ornithine transporter SLC25A15 (PubMed:19287344). Does not transport carnitine nor acylcarnitines (PubMed:24652292). Functions by both counter-exchange and uniport mechanisms (PubMed:24652292).',NULL,NULL,NULL,NULL,NULL),(16539,'UniProt Function',NULL,19643,NULL,'Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion (PubMed:23178883, PubMed:26445506, PubMed:27184846, PubMed:26976564). Plays a direct role in uniporter-mediated calcium uptake via a direct interaction with MCU (PubMed:23178883). Probably involved in the assembly of the membrane components of the uniporter complex (uniplex) (PubMed:27184846).',NULL,NULL,NULL,NULL,NULL),(16540,'UniProt Function',NULL,19644,NULL,'Acts as a transcriptional activator or repressor. Inhibits the transcriptional activation of Zic family proteins ZIC1, ZIC2 and ZIC3. Retains nuclear Zic proteins ZIC1, ZIC2 and ZIC3 in the cytoplasm. Modulates the expression from both cellular and viral promoters. Down-regulates Tat-dependent transcription of the human immunodeficiency virus type 1 (HIV-1) LTR by interacting with HIV-1 Tat and Rev and impairing their nuclear import, probably by rendering the NLS domains inaccessible to importin-beta. Also stimulates activation of human T-cell leukemia virus type I (HTLV-I) LTR. Binds to the axin complex, resulting in an increase in the level of free beta-catenin. Affects axin regulation of the WNT and JNK signaling pathways.',NULL,NULL,NULL,NULL,NULL),(16541,'UniProt Function',NULL,19646,NULL,'May play an important role in spermatogenesis and/or testis development.',NULL,NULL,NULL,NULL,NULL),(16542,'UniProt Function',NULL,19647,NULL,'Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but the enzyme accepts both ACP and CoA thioesters as substrates in vitro. Has a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA (C6), trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16).',NULL,NULL,NULL,NULL,NULL),(16543,'UniProt Function',NULL,19648,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(16544,'UniProt Function',NULL,19649,NULL,'Required for transcriptional activation subsequent to the assembly of the pre-initiation complex (By similarity). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. Required for transcriptional activation by adenovirus E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling.',NULL,NULL,NULL,NULL,NULL),(16545,'UniProt Function',NULL,19650,NULL,'Acts as an inhibitor of histone acetyltransferase activity; prevents acetylation of all core histones by the EP300/p300 histone acetyltransferase at p53/TP53-regulated target promoters in a histone deacetylases (HDAC)-independent manner. Acts as a transcription corepressor of p53/TP53- and TP63-mediated transactivation of the p21/CDKN1A promoter. Involved in the regulation of p53/TP53-dependent apoptosis. Associates together with TP63 isoform TA*-gamma to the p21/CDKN1A promoter.',NULL,NULL,NULL,NULL,NULL),(16546,'UniProt Function',NULL,19651,NULL,'Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.',NULL,NULL,NULL,NULL,NULL),(16547,'UniProt Function',NULL,19653,NULL,'Probable S-adenosyl-L-methionine-dependent methyltransferase that mediates 3-methylcytidine modification of some tRNAs.',NULL,NULL,NULL,NULL,NULL),(16548,'UniProt Function',NULL,19655,NULL,'Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative feedback mechanism. Primarily repressor of a broad range of genes. Binds to hormone response elements (HREs) consisting of two 5\'-AGGTCA-3\' half site direct repeat consensus sequences. Together with NR2C2, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription. Also activator of OCT4 gene expression. May be involved in stem cell proliferation and differentiation. Mediator of retinoic acid-regulated preadipocyte proliferation.',NULL,NULL,NULL,NULL,NULL),(16549,'UniProt Function',NULL,19656,NULL,'Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended core motif half-site sequence 5\'-AAGGTCA-3\' in which the 5\' flanking nucleotides participate in determining receptor specificity (By similarity). May be required to pattern anterior brain differentiation. Involved in the regulation of retinal development and essential for vision. During retinogenesis, regulates PTEN-Cyclin D expression via binding to the promoter region of PTEN and suppressing its activity (By similarity). May be involved in retinoic acid receptor (RAR) regulation in retinal cells.',NULL,NULL,NULL,NULL,NULL),(16550,'UniProt Function',NULL,19657,NULL,'Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression.',NULL,NULL,NULL,NULL,NULL),(16551,'UniProt Function',NULL,19658,NULL,'Transcription factor predominantly involved in transcriptional repression. Binds to promoter/enhancer response elements that contain the imperfect 5\'-AGGTCA-3\' direct or inverted repeats with various spacings which are also recognized by other nuclear hormone receptors. Involved in modulation of hormonal responses. Represses transcriptional activity of the lutropin-choriogonadotropic hormone receptor/LHCGR gene, the renin/REN gene and the oxytocin-neurophysin/OXT gene. Represses the triiodothyronine-dependent and -independent transcriptional activity of the thyroid hormone receptor gene in a cell type-specific manner. The corepressing function towards thyroid hormone receptor beta/THRB involves at least in part the inhibition of THRB binding to triiodothyronine response elements (TREs) by NR2F6. Inhibits NFATC transcription factor DNA binding and subsequently its transcriptional activity. Acts as transcriptional repressor of IL-17 expression in Th-17 differentiated CD4(+) T cells and may be involved in induction and/or maintenance of peripheral immunological tolerance and autoimmunity. Involved in development of forebrain circadian clock; is required early in the development of the locus coeruleus (LC).',NULL,NULL,NULL,NULL,NULL),(16552,'UniProt Function',NULL,19659,NULL,'Triggers NCR3-dependent natural killer cell activation.',NULL,NULL,NULL,NULL,NULL),(16553,'UniProt Function',NULL,19660,NULL,'Hormone induced following exercise or cold exposure that promotes energy expenditure. Induced either in the skeletal muscle after exercise or in adipose tissue following cold exposure and is present in the circulation. Able to stimulate energy expenditure associated with the browning of the white fat depots and improves glucose tolerance. Does not promote an increase in a thermogenic gene program via direct action on adipocytes, but acts by stimulating several immune cell subtypes to enter the adipose tissue and activate their prothermogenic actions. Stimulates an eosinophil-dependent increase in IL4 expression and promotes alternative activation of adipose tissue macrophages, which are required for the increased expression of the thermogenic and anti-inflammatory gene programs in fat. Required for some cold-induced thermogenic responses, suggesting a role in metabolic adaptations to cold temperatures (By similarity).',NULL,NULL,NULL,NULL,NULL),(16554,'UniProt Function',NULL,19661,NULL,'Involved in both glial cell differentiation and axonal network formation during neurogenesis. Promotes astrocyte differentiation and transforms cerebellar astrocytes into radial glia. Also induces axonal extension in small and intermediate neurons of sensory ganglia by activating nearby satellite glia (By similarity).',NULL,NULL,NULL,NULL,NULL),(16555,'UniProt Function',NULL,19662,NULL,'Nuclear receptor that acts as a key metabolic sensor by regulating the expression of genes involved in bile acid synthesis, cholesterol homeostasis and triglyceride synthesis. Together with the oxysterol receptors NR1H3/LXR-alpha and NR1H2/LXR-beta, acts as an essential transcriptional regulator of lipid metabolism. Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957). Binds to the sequence element 5\'-AACGACCGACCTTGAG-3\' of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development.',NULL,NULL,NULL,NULL,NULL),(16556,'UniProt Function',NULL,19663,NULL,'Orphan nuclear receptor. Binds to a response element containing the sequence 5\'-TCAAGGTCA-3\'. May be involved in the regulation of gene expression in germ cell development during gametogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(16557,'UniProt Function',NULL,19664,NULL,'Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and tissue iron distribution. May serve to import iron into the mitochondria.',NULL,NULL,NULL,NULL,NULL),(16558,'UniProt Function',NULL,19665,NULL,'May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix.',NULL,NULL,NULL,NULL,NULL),(16559,'UniProt Function',NULL,19666,NULL,'It is involved in the regulation of the biosynthesis and biological function of glycoprotein oligosaccharides. Catalyzes the addition of N-acetylglucosamine in beta 1-4 linkage to the beta-linked mannose of the trimannosyl core of N-linked sugar chains, called bisecting N-acetylglucosamine (GlcNAc). It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. The addition of this bisecting GlcNAc residue alters not only the composition, but also the conformation of the N-glycan. The introduction of the bisecting GlcNAc residue results in the suppression of further processing and elongation of N-glycans, precluding the formation of beta-1,6 GlcNAc branching, catalyzed by MGAT5 since it is unable to use the bisected oligosaccharide as a substrate (PubMed:19403558). Addition of bisecting N-acetylglucosamine to CDH1/E-cadherin modulates CDH1 cell membrane location (PubMed:19403558). Inhibits NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc- formation which modulates sialylation levels and plays a role in cell migration regulation (PubMed:26801611). In brain, addition of bisecting N-acetylglucosamine to BACE1 blocks its lysosomal targeting in response to oxidative stress and further degradation which increases its location to early endosome and the APP cleavage (By similarity).',NULL,NULL,NULL,NULL,NULL),(16560,'UniProt Function',NULL,19667,NULL,'Transports folate across the inner membranes of mitochondria.',NULL,NULL,NULL,NULL,NULL),(16561,'UniProt Function',NULL,19669,NULL,'Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a wide substrate specificity.',NULL,NULL,NULL,NULL,NULL),(16562,'UniProt Function',NULL,19672,NULL,'Mediates homophilic cell-cell adhesion.',NULL,NULL,NULL,NULL,NULL),(16563,'UniProt Function',NULL,19673,NULL,'Transcriptional coactivator that specifically associates with either OCT1 or OCT2. It boosts the OCT1 mediated promoter activity and to a lesser extent, that of OCT2. It has no intrinsic DNA-binding activity. It recognizes the POU domains of OCT1 and OCT2. It is essential for the response of B-cells to antigens and required for the formation of germinal centers.',NULL,NULL,NULL,NULL,NULL),(16564,'UniProt Function',NULL,19675,NULL,'Negatively regulates leptin receptor (LEPR) cell surface expression, and thus decreases response to leptin. Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability.',NULL,NULL,NULL,NULL,NULL),(16565,'UniProt Function',NULL,19676,NULL,'Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration. Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715, PubMed:21949762). In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). Phosphorylates PPP1R12A (PubMed:21457715). In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16566,'UniProt Function',NULL,19677,NULL,'May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16567,'UniProt Function',NULL,19678,NULL,'Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons.',NULL,NULL,NULL,NULL,NULL),(16568,'UniProt Function',NULL,19679,NULL,'Mast cell-specific receptor for basic secretagogues, i.e. cationic amphiphilic drugs, as well as endo- or exogenous peptides, consisting of a basic head group and a hydrophobic core (PubMed:25517090). Recognizes and binds small molecules containing a cyclized tetrahydroisoquinoline (THIQ), such as non-steroidal neuromuscular blocking drugs (NMBDs), including tubocurarine and atracurium. In response to these compounds, mediates pseudo-allergic reactions characterized by histamine release, inflammation and airway contraction (By similarity). Acts as a receptor for a number of other ligands, including peptides and alkaloids, such as cortistatin-14, proadrenomedullin N-terminal peptides PAMP-12 and, at lower extent, PAMP-20, antibacterial protein LL-37, PMX-53 peptide, beta-defensins, and complanadine A.',NULL,NULL,NULL,NULL,NULL),(16569,'UniProt Function',NULL,19681,NULL,'S-adenosyl-L-methionine-dependent 2\'-O-ribose methyltransferase that catalyzes the formation of 2\'-O-methylguanosine at position 1370 (Gm1370) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a conserved modification in the peptidyl transferase domain of the mtLSU rRNA.',NULL,NULL,NULL,NULL,NULL),(16570,'UniProt Function',NULL,19682,NULL,'Probable cell surface receptor that plays a role in cellular fusion and cell differentiation. Cooperates with DCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Involved in osteoclast bone resorption. Promotes osteoclast differentiation and may play a role in the multinucleated osteoclast maturation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16571,'UniProt Function',NULL,19683,NULL,'Plays a role in the cellular response to DNA damage and the maintenance of genome stability through its association with the MRN damage-sensing complex (PubMed:27568553). Promotes chromatin loading and activity of the MRN complex to facilitate subsequent ATM-mediated DNA damage response signaling and DNA repair (PubMed:27568553).',NULL,NULL,NULL,NULL,NULL),(16572,'UniProt Function',NULL,19684,NULL,'Mediates export of organic anions and drugs from the cytoplasm. Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o-glucuronide, methotrexate, antiviral drugs and other xenobiotics. Confers resistance to anticancer drugs. Hydrolyzes ATP with low efficiency.',NULL,NULL,NULL,NULL,NULL),(16573,'UniProt Function',NULL,19685,NULL,'Controls cell movement by regulating actin cytoskeleton homeostasis and filopodium and lamellipodium formation (PubMed:22751924). When unphosphorylated, induces cell migration (By similarity). When phosphorylated by MAPK8, induces actin bundles formation and stabilization, thereby reducing actin plasticity, hence restricting cell movement, including neuronal migration (By similarity). May be involved in coupling the protein kinase C and calmodulin signal transduction systems (By similarity).',NULL,NULL,NULL,NULL,NULL),(16574,'UniProt Function',NULL,19686,NULL,'The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).',NULL,NULL,NULL,NULL,NULL),(16575,'UniProt Function',NULL,19690,NULL,'Transports C5-C7 oxodicarboxylates across the inner membranes of mitochondria. Can transport 2-oxoadipate, 2-oxoglutarate, adipate, glutarate, and to a lesser extent, pimelate, 2-oxopimelate, 2-aminoadipate, oxaloacetate, and citrate.',NULL,NULL,NULL,NULL,NULL),(16576,'UniProt Function',NULL,19691,NULL,'Acts as a suppressor of ciliogenesis, specifically, the initiation of ciliogenesis.',NULL,NULL,NULL,NULL,NULL),(16577,'UniProt Function',NULL,19692,NULL,'Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. MRTFA binds G-actin via its RPEL repeats, regulating activity of the MRTFA-SRF complex. Activity is also regulated by filamentous actin (F-actin) in the nucleus.',NULL,NULL,NULL,NULL,NULL),(16578,'UniProt Function',NULL,19693,NULL,'Component of the outer dense fibers (ODF) of spermatozoa. ODF are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail.',NULL,NULL,NULL,NULL,NULL),(16579,'UniProt Function',NULL,19694,NULL,'May be involved in chromatin remodeling and transcriptional regulation. May have a role in X inactivation. Component of the MSL complex which is responsible for the majority of histone H4 acetylation at \'Lys-16\' which is implicated in the formation of higher-order chromatin structure. Specifically recognizes histone H4 monomethylated at \'Lys-20\' (H4K20Me1) in a DNA-dependent manner and is proposed to be involved in chromosomal targeting of the MSL complex.',NULL,NULL,NULL,NULL,NULL),(16580,'UniProt Function',NULL,19695,NULL,'May be involved in chromatin remodeling and transcriptional regulation.',NULL,NULL,NULL,NULL,NULL),(16581,'UniProt Function',NULL,19696,NULL,'Hematopoietic modulator for the G1-S cell cycle transition. Modulates the level of phosphorylation of cyclin-dependent kinase 2 (CDK2) through its direct binding to cyclin-dependent kinase inhibitor 3 (CDKN3/KAP).',NULL,NULL,NULL,NULL,NULL),(16582,'UniProt Function',NULL,19697,NULL,'May be involved in signal transduction as a component of a multimeric receptor complex.',NULL,NULL,NULL,NULL,NULL),(16583,'UniProt Function',NULL,19698,NULL,'May be involved in signal transduction as a component of a multimeric receptor complex.',NULL,NULL,NULL,NULL,NULL),(16584,'UniProt Function',NULL,19699,NULL,'Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis.',NULL,NULL,NULL,NULL,NULL),(16585,'UniProt Function',NULL,19701,NULL,'Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Stimulates the kinase activity of STK38 and STK38L. Acts cooperatively with STK3/MST2 to activate STK38.',NULL,NULL,NULL,NULL,NULL),(16586,'UniProt Function',NULL,19702,NULL,'Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Stimulates the kinase activity of STK38L.',NULL,NULL,NULL,NULL,NULL),(16587,'UniProt Function',NULL,19703,NULL,'May function as a tissue-specific nuclear mRNA export factor.',NULL,NULL,NULL,NULL,NULL),(16588,'UniProt Function',NULL,19704,NULL,'May play a role in cone cell viability, slowing down cone degeneration, does not seem to play a role in degenerating rods.',NULL,NULL,NULL,NULL,NULL),(16589,'UniProt Function',NULL,19705,NULL,'Stimulates the autophosphorylation and kinase activity of STK38 and STK38L.',NULL,NULL,NULL,NULL,NULL),(16590,'UniProt Function',NULL,19706,NULL,'May regulate the activity of kinases.',NULL,NULL,NULL,NULL,NULL),(16591,'UniProt Function',NULL,19707,NULL,'May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors.',NULL,NULL,NULL,NULL,NULL),(16592,'UniProt Function',NULL,19708,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16593,'UniProt Function',NULL,19709,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16594,'UniProt Function',NULL,19710,NULL,'Odorant receptor. Activated by isovaleric acid.',NULL,NULL,NULL,NULL,NULL),(16595,'UniProt Function',NULL,19711,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16596,'UniProt Function',NULL,19712,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16597,'UniProt Function',NULL,19713,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16598,'UniProt Function',NULL,19714,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16599,'UniProt Function',NULL,19715,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16600,'UniProt Function',NULL,19716,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16601,'UniProt Function',NULL,19717,NULL,'Probably involved in connections of major cytoskeletal structures to the plasma membrane. May inhibit herpes simplex virus 1 infection at an early stage. Plays a role in regulating the proliferation, migration, and adhesion of human lymphoid cells and participates in immunologic synapse formation (PubMed:27405666).',NULL,NULL,NULL,NULL,NULL),(16602,'UniProt Function',NULL,19719,NULL,'Involved in centriole duplication. Positively regulates CEP63 centrosomal localization. Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:24613305, PubMed:26297806).',NULL,NULL,NULL,NULL,NULL),(16603,'UniProt Function',NULL,19721,NULL,'Required for spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(16604,'UniProt Function',NULL,19723,NULL,'Might have a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(16605,'UniProt Function',NULL,19725,NULL,'Plays a role in promoting axonal degeneration following neuronal injury by toxic insult or trauma.',NULL,NULL,NULL,NULL,NULL),(16606,'UniProt Function',NULL,19726,NULL,'Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Functions as high-affinity pyruvate transporter.',NULL,NULL,NULL,NULL,NULL),(16607,'UniProt Function',NULL,19727,NULL,'HA acts as an autocrine growth factor for neural cells in the G2/mitosis transition.',NULL,NULL,NULL,NULL,NULL),(16608,'UniProt Function',NULL,19728,NULL,'Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity).',NULL,NULL,NULL,NULL,NULL),(16609,'UniProt Function',NULL,19729,NULL,'Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity).',NULL,NULL,NULL,NULL,NULL),(16610,'UniProt Function',NULL,19730,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16611,'UniProt Function',NULL,19731,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16612,'UniProt Function',NULL,19732,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16613,'UniProt Function',NULL,19733,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16614,'UniProt Function',NULL,19734,NULL,'Mediates the uptake of pyruvate into mitochondria.',NULL,NULL,NULL,NULL,NULL),(16615,'UniProt Function',NULL,19735,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16616,'UniProt Function',NULL,19736,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16617,'UniProt Function',NULL,19738,NULL,'Involved in the regulation of mitochondrial distribution and morphology (PubMed:17349998, PubMed:28554942, PubMed:28544275). Required for mitochondrial fusion and mitochondrial network formation (PubMed:28554942, PubMed:28544275).',NULL,NULL,NULL,NULL,NULL),(16618,'UniProt Function',NULL,19739,NULL,'Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.',NULL,NULL,NULL,NULL,NULL),(16619,'UniProt Function',NULL,19740,NULL,'Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.',NULL,NULL,NULL,NULL,NULL),(16620,'UniProt Function',NULL,19741,NULL,'Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.',NULL,NULL,NULL,NULL,NULL),(16621,'UniProt Function',NULL,19742,NULL,'Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. May be involved in FAM168A anti-apoptotic signaling (PubMed:23251525).',NULL,NULL,NULL,NULL,NULL),(16622,'UniProt Function',NULL,19743,NULL,'Protein-lysine N-methyltransferase that specifically trimethylates \'Lys-315\' of VCP/p97; this modification may decrease VCP ATPase activity.',NULL,NULL,NULL,NULL,NULL),(16623,'UniProt Function',NULL,19744,NULL,'Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X(2,3)-S/T-C2-X(2)-G of thrombospondin type 1 repeats where C1 and C2 are the first and second cysteines, respectively. O-fucosylates members of several protein families including the ADAMTS family, the thrombosporin (TSP) and spondin families. The O-fucosylation of TSRs is also required for restricting epithelial to mesenchymal transition (EMT), maintaining the correct patterning of mesoderm and localization of the definite endoderm (By similarity). Required for the proper secretion of ADAMTS family members such as ADAMSL1 and ADAMST13.',NULL,NULL,NULL,NULL,NULL),(16624,'UniProt Function',NULL,19745,NULL,'Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.',NULL,NULL,NULL,NULL,NULL),(16625,'UniProt Function',NULL,19746,NULL,'May be involved in the regulation of gene expression as repressor and activator. The repression might be related to covalent modification of histone proteins.',NULL,NULL,NULL,NULL,NULL),(16626,'UniProt Function',NULL,19749,NULL,'Receptor for opioid growth factor (OGF), also known as Met-enkephalin. Seems to be involved in growth regulation.',NULL,NULL,NULL,NULL,NULL),(16627,'UniProt Function',NULL,19750,NULL,'Seems to bind zinc and copper. Could play a special role in regulating zinc metabolism during the differentiation of stratified epithelia.',NULL,NULL,NULL,NULL,NULL),(16628,'UniProt Function',NULL,19751,NULL,'Binds promoter DNA and regulates initiation of transcription (PubMed:17662942). Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function (By similarity). Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit (By similarity).',NULL,NULL,NULL,NULL,NULL),(16629,'UniProt Function',NULL,19752,NULL,'Regulator of mitochondrial ribosome biogenesis and translation. Binds to mitochondrial ribosomal RNAs 16S, 12S and 7S and targets NSUN4 RNA methyltransferase to the mitochondrial large ribosomal subunit (39S).',NULL,NULL,NULL,NULL,NULL),(16630,'UniProt Function',NULL,19753,NULL,'Activates the metallothionein I promoter. Binds to the metal responsive element (MRE).',NULL,NULL,NULL,NULL,NULL),(16631,'UniProt Function',NULL,19755,NULL,'May determine the distinct specification program of class A neurons in the dorsal part of the spinal cord and suppress specification of class B neurons.',NULL,NULL,NULL,NULL,NULL),(16632,'UniProt Function',NULL,19757,NULL,'Cell adhesion molecule contributing to the interactive process required for myelination in the central nervous system.',NULL,NULL,NULL,NULL,NULL),(16633,'UniProt Function',NULL,19758,NULL,'Positively regulates mitochondrial complex assembly and/or stability (By similarity). Increases mitochondrial membrane potential and mitochondrial respiration rate awhile decreasing mitochondrial reactive oxygen species (PubMed:29949756). Also increases mitochondrial calcium retention capacity (PubMed:29949756).',NULL,NULL,NULL,NULL,NULL),(16634,'UniProt Function',NULL,19759,NULL,'Receptor for motilin.',NULL,NULL,NULL,NULL,NULL),(16635,'UniProt Function',NULL,19760,NULL,'Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) (PubMed:11001925, PubMed:10900271, PubMed:12646134, PubMed:14722070). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides (PubMed:9537414). Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome (PubMed:14722070). Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture (PubMed:21135508). Plays a role in mitochondrial morphology and positioning (PubMed:21135508). Required for skeletal muscle maintenance but not for myogenesis (PubMed:21135508). In skeletal muscles, stabilizes MTMR12 protein levels (PubMed:23818870).',NULL,NULL,NULL,NULL,NULL),(16636,'UniProt Function',NULL,19761,NULL,'Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.',NULL,NULL,NULL,NULL,NULL),(16637,'UniProt Function',NULL,19762,NULL,'Dephosphorylates proteins phosphorylated on Ser, Thr, and Tyr residues and low molecular weight phosphatase substrate para-nitrophenylphosphate. Phosphorylates phosphatidylinositol 3,4,5-trisphosphate (PIP3).',NULL,NULL,NULL,NULL,NULL),(16638,'UniProt Function',NULL,19763,NULL,'Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. According to PubMed:20937701, may function as a guanine nucleotide exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.',NULL,NULL,NULL,NULL,NULL),(16639,'UniProt Function',NULL,19764,NULL,'Phosphatase that acts on lipids with a phosphoinositol headgroup (PubMed:22647598, PubMed:26143924). Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate (PubMed:22647598, PubMed:26143924). In complex with MTMR9, negatively regulates autophagy (PubMed:22647598).',NULL,NULL,NULL,NULL,NULL),(16640,'UniProt Function',NULL,19765,NULL,'Acts as an adapter for the myotubularin-related phosphatases (PubMed:11504939, PubMed:12847286, PubMed:23818870). Regulates phosphatase MTM1 protein stability and possibly its intracellular location (PubMed:23818870). By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(16641,'UniProt Function',NULL,19766,NULL,'Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P). Functions in the methionine salvage pathway, which plays a key role in cancer, apoptosis, microbial proliferation and inflammation. May inhibit the CASP1-related inflammatory response (pyroptosis), the CASP9-dependent apoptotic pathway and the cytochrome c-dependent and APAF1-mediated cell death.',NULL,NULL,NULL,NULL,NULL),(16642,'UniProt Function',NULL,19767,NULL,'Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction.',NULL,NULL,NULL,NULL,NULL),(16643,'UniProt Function',NULL,19768,NULL,'Required for several aspects of embryonic development including normal development of the eye.',NULL,NULL,NULL,NULL,NULL),(16644,'UniProt Function',NULL,19770,NULL,'Receptor for melanin-concentrating hormone, coupled to both G proteins that inhibit adenylyl cyclase and G proteins that activate phosphoinositide hydrolysis.',NULL,NULL,NULL,NULL,NULL),(16645,'UniProt Function',NULL,19773,NULL,'Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for \'once per cell cycle\' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for the entry in S phase and for cell division. Plays a role in terminally differentiated hair cells development of the cochlea and induces cells apoptosis.',NULL,NULL,NULL,NULL,NULL),(16646,'UniProt Function',NULL,19774,NULL,'Cleaves peptide substrates on the N-terminus of arginine residues in dibasic pairs.',NULL,NULL,NULL,NULL,NULL),(16647,'UniProt Function',NULL,19775,NULL,'Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The MAGOH-RBM8A heterodimer inhibits the ATPase activity of EIF4A3, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The MAGOH-RBM8A heterodimer interacts with the EJC key regulator PYM1 leading to EJC disassembly in the cytoplasm and translation enhancement of EJC-bearing spliced mRNAs by recruiting them to the ribosomal 48S preinitiation complex. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly.',NULL,NULL,NULL,NULL,NULL),(16648,'UniProt Function',NULL,19776,NULL,'Also functions as a glutathione peroxidase.',NULL,NULL,NULL,NULL,NULL),(16649,'UniProt Function',NULL,19778,NULL,'Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Has lower affinities for donors or acceptors than MGAT4A, suggesting that, under physiological conditions, it is not the main contributor in N-glycan biosynthesis.',NULL,NULL,NULL,NULL,NULL),(16650,'UniProt Function',NULL,19780,NULL,'Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.',NULL,NULL,NULL,NULL,NULL),(16651,'UniProt Function',NULL,19781,NULL,'Involved in the regulation of mitochondrial fission mediated by DNM1L (PubMed:29083303). Positively regulates mitochondrial translation (PubMed:30215512). May play a role in ribosome biogenesis by preventing premature association of the 28S and 39S ribosomal subunits (Probable).',NULL,NULL,NULL,NULL,NULL),(16652,'UniProt Function',NULL,19782,NULL,'Transcriptional repressor regulating the expression of a number of genes including SP1 target genes. Probably functions through recruitment of HDAC1 a histone deacetylase involved in chromatin silencing.',NULL,NULL,NULL,NULL,NULL),(16653,'UniProt Function',NULL,19783,NULL,'Transcriptional repressor.',NULL,NULL,NULL,NULL,NULL),(16654,'UniProt Function',NULL,19784,NULL,'Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD.',NULL,NULL,NULL,NULL,NULL),(16655,'UniProt Function',NULL,19785,NULL,'Key regulator of mitochondrial calcium uniporter (MCU) required to limit calcium uptake by MCU when cytoplasmic calcium is low (PubMed:24503055, PubMed:24560927, PubMed:26903221). MICU1 and MICU2 form a disulfide-linked heterodimer that stimulate and inhibit MCU activity, depending on the concentration of calcium (PubMed:24560927). MICU2 acts as a gatekeeper of MCU that senses calcium level via its EF-hand domains: prevents channel opening at resting calcium, avoiding energy dissipation and cell-death triggering (PubMed:24560927).',NULL,NULL,NULL,NULL,NULL),(16656,'UniProt Function',NULL,19786,NULL,'Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assembly of DNM1L into long, oligomeric tubules with a spiral pattern, as opposed to the ring-like DNM1L oligomers observed in the absence of bound ADP. Does not require ADP for its function in recruiting DNM1L.',NULL,NULL,NULL,NULL,NULL),(16657,'UniProt Function',NULL,19787,NULL,'Induces bone formation in conjunction with TGF-beta-1 or TGF-beta-2.',NULL,NULL,NULL,NULL,NULL),(16658,'UniProt Function',NULL,19788,NULL,'Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx.',NULL,NULL,NULL,NULL,NULL),(16659,'UniProt Function',NULL,19789,NULL,'Mediates Mg(2+) transport.',NULL,NULL,NULL,NULL,NULL),(16660,'UniProt Function',NULL,19790,NULL,'Contractile protein that plays a role in heart development and function (By similarity). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin binding sites to sustain thin filament activation as a means to fine-tune myofilament calcium sensitivity to force (By similarity). During cardiogenesis plays an early role in cardiac contractility by promoting cardiac myofibril assembly (By similarity).',NULL,NULL,NULL,NULL,NULL),(16661,'UniProt Function',NULL,19791,NULL,'Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion (By similarity).',NULL,NULL,NULL,NULL,NULL),(16662,'UniProt Function',NULL,19792,NULL,'Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity).',NULL,NULL,NULL,NULL,NULL),(16663,'UniProt Function',NULL,19793,NULL,'Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity).',NULL,NULL,NULL,NULL,NULL),(16664,'UniProt Function',NULL,19794,NULL,'Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity).',NULL,NULL,NULL,NULL,NULL),(16665,'UniProt Function',NULL,19795,NULL,'Proton-linked monocarboxylate transporter. It catalyzes the transport of pyruvate across the plasma membrane (PubMed:28666119). Probably involved in hepatic lipid metabolism: overexpression results in an increase of triacylglycerol(TAG) levels, small increases in intracellular diacylglycerols and decreases in lysophosphatidylcholine, cholesterol ester and sphingomyelin lipids (PubMed:24390345).',NULL,NULL,NULL,NULL,NULL),(16666,'UniProt Function',NULL,19796,NULL,'Proton-linked monocarboxylate transporter that mediates creatine transport across the plasma membrane.',NULL,NULL,NULL,NULL,NULL),(16667,'UniProt Function',NULL,19797,NULL,'Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2, leading to their activation and further transduction of the signal within the MAPK/ERK cascade. Depending on the cellular context, this pathway mediates diverse biological functions such as cell growth, adhesion, survival and differentiation, predominantly through the regulation of transcription, metabolism and cytoskeletal rearrangements. One target of the MAPK/ERK cascade is peroxisome proliferator-activated receptor gamma (PPARG), a nuclear receptor that promotes differentiation and apoptosis. MAP2K1/MEK1 has been shown to export PPARG from the nucleus. The MAPK/ERK cascade is also involved in the regulation of endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC), as well as in the fragmentation of the Golgi apparatus during mitosis.',NULL,NULL,NULL,NULL,NULL),(16668,'UniProt Function',NULL,19798,NULL,'Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis.',NULL,NULL,NULL,NULL,NULL),(16669,'UniProt Function',NULL,19799,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16670,'UniProt Function',NULL,19800,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16671,'UniProt Function',NULL,19801,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16672,'UniProt Function',NULL,19802,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16673,'UniProt Function',NULL,19803,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16674,'UniProt Function',NULL,19804,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16675,'UniProt Function',NULL,19805,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16676,'UniProt Function',NULL,19806,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16677,'UniProt Function',NULL,19807,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16678,'UniProt Function',NULL,19808,NULL,'Probable G protein-coupled receptor that is activated by the short chain fatty acids (SCFA) acetate and propionate. In response to SCFA, may positively regulate renin secretion and increase blood pressure (PubMed:23401498). May also be activated by steroid hormones and regulate cell proliferation (PubMed:19389702). May also function as an olfactory receptor being activated by beta-ionone (PubMed:19389702).',NULL,NULL,NULL,NULL,NULL),(16679,'UniProt Function',NULL,19809,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16680,'UniProt Function',NULL,19810,NULL,'Acts as a scaffold for the formation of a ternary MAP3K2/MAP3K3-MAP3K5-MAPK7 signaling complex. Activation of this pathway appears to play a critical role in protecting cells from stress-induced apoptosis, neuronal survival and cardiac development and angiogenesis.',NULL,NULL,NULL,NULL,NULL),(16681,'UniProt Function',NULL,19811,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16682,'UniProt Function',NULL,19812,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16683,'UniProt Function',NULL,19813,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16684,'UniProt Function',NULL,19814,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16685,'UniProt Function',NULL,19815,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16686,'UniProt Function',NULL,19816,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16687,'UniProt Function',NULL,19817,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16688,'UniProt Function',NULL,19818,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16689,'UniProt Function',NULL,19819,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16690,'UniProt Function',NULL,19820,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16691,'UniProt Function',NULL,19821,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16692,'UniProt Function',NULL,19822,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16693,'UniProt Function',NULL,19823,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16694,'UniProt Function',NULL,19824,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16695,'UniProt Function',NULL,19825,NULL,'Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner. Directly dephosphorylates CDK1 and stimulates its kinase activity. The three isoforms seem to have a different level of activity.',NULL,NULL,NULL,NULL,NULL),(16696,'UniProt Function',NULL,19826,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16697,'UniProt Function',NULL,19827,NULL,'Functions as a dosage-dependent inducer in mitotic control. Tyrosine protein phosphatase required for progression of the cell cycle. When phosphorylated, highly effective in activating G2 cells into prophase. Directly dephosphorylates CDK1 and activates its kinase activity.',NULL,NULL,NULL,NULL,NULL),(16698,'UniProt Function',NULL,19828,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16699,'UniProt Function',NULL,19829,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(16700,'UniProt Function',NULL,19830,NULL,'May play a role in retinal photoreceptors development.',NULL,NULL,NULL,NULL,NULL),(16701,'UniProt Function',NULL,19831,NULL,'May play a role in tight junctions biogenesis and in the establishment of cell polarity in epithelial cells. May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter. Required for localization of EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By similarity).',NULL,NULL,NULL,NULL,NULL),(16702,'UniProt Function',NULL,19833,NULL,'Displays low metallophosphoesterase activity (in vitro). May play a role in the development of the nervous system (By similarity).',NULL,NULL,NULL,NULL,NULL),(16703,'UniProt Function',NULL,19834,NULL,'Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4.',NULL,NULL,NULL,NULL,NULL),(16704,'UniProt Function',NULL,19835,NULL,'Mediates homophilic cell-cell adhesion.',NULL,NULL,NULL,NULL,NULL),(16705,'UniProt Function',NULL,19836,NULL,'Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimers. Does not target the ODC monomers for degradation, which allows a protein synthesis-independent restoration of ODC activity (PubMed:17900240). Stabilizes AZIN2 by interfering with its ubiquitination. Involved in the translocation of AZNI2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol. Probably plays a key role in spermatogenesis by regulating the intracellular concentration of polyamines in haploid germ cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(16706,'UniProt Function',NULL,19838,NULL,'The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.',NULL,NULL,NULL,NULL,NULL),(16707,'UniProt Function',NULL,19839,NULL,'Membrane-anchored forms may play a role in cellular adhesion.',NULL,NULL,NULL,NULL,NULL),(16708,'UniProt Function',NULL,19839,NULL,'Megakaryocyte-potentiating factor (MPF) potentiates megakaryocyte colony formation in vitro.',NULL,NULL,NULL,NULL,NULL),(16709,'UniProt Function',NULL,19840,NULL,'Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Acts as a regulator of actin assembly by reducing methionine (R)-sulfoxide mediated by MICALs (MICAL1, MICAL2 or MICAL3) on actin, thereby promoting filament repolymerization. Plays a role in innate immunity by reducing oxidized actin, leading to actin repolymerization in macrophages.',NULL,NULL,NULL,NULL,NULL),(16710,'UniProt Function',NULL,19841,NULL,'Hydrolyzes ATP, and can also hydrolyze GTP with lower efficiency. Has lower affinity for GTP.',NULL,NULL,NULL,NULL,NULL),(16711,'UniProt Function',NULL,19842,NULL,'Polycomb group (PcG) that specifically binds histone H3 trimethylated at \'Lys-36\' (H3K36me3) and recruits the PRC2 complex. Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex, leading to enhance PRC2 H3K27me3 methylation activity. Regulates the transcriptional networks during embryonic stem cell self-renewal and differentiation. Promotes recruitment of the PRC2 complex to the inactive X chromosome in differentiating XX ES cells and PRC2 recruitment to target genes in undifferentiated ES cells. Required to repress Hox genes by enhancing H3K27me3 methylation of the PRC2 complex. In some conditions may act as an inhibitor of PRC2 activity: able to activate the CDKN2A gene and promote cellular senescence by suppressing the catalytic activity of the PRC2 complex locally. Binds to the metal-regulating-element (MRE) of MT1A gene promoter (By similarity).',NULL,NULL,NULL,NULL,NULL),(16712,'UniProt Function',NULL,19843,NULL,'Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Can repress transactivation mediated by TCF12 (PubMed:16803958). Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal (PubMed:23812588).',NULL,NULL,NULL,NULL,NULL),(16713,'UniProt Function',NULL,19844,NULL,'Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency (PubMed:27281218). Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16714,'UniProt Function',NULL,19845,NULL,'Required for oligodendrocyte and motor neuron specification in the spinal cord, as well as for the development of somatic motor neurons in the hindbrain. Functions together with ZNF488 to promote oligodendrocyte differentiation. Cooperates with OLIG1 to establish the pMN domain of the embryonic neural tube. Antagonist of V2 interneuron and of NKX2-2-induced V3 interneuron development.',NULL,NULL,NULL,NULL,NULL),(16715,'UniProt Function',NULL,19847,NULL,'Metalloprotease that is part of the quality control system in the inner membrane of mitochondria. Following stress conditions that induce loss of mitochondrial membrane potential, mediates cleavage of OPA1 at S1 position, leading to OPA1 inactivation and negative regulation of mitochondrial fusion. May also cleave UQCC3 under these conditions. Its role in mitochondrial quality control is essential for regulating lipid metabolism as well as to maintain body temperature and energy expenditure under cold-stress conditions.',NULL,NULL,NULL,NULL,NULL),(16716,'UniProt Function',NULL,19848,NULL,'Lipid phosphatase that has high specificity for phosphatidylinositol 3-phosphate and has no activity with phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:11733541, PubMed:27018598). Activity with phosphatidylinositol (3,5)-bisphosphate is controversial; it has been shown by PubMed:27018598, while PubMed:11733541 find no activity with this substrate.',NULL,NULL,NULL,NULL,NULL),(16717,'UniProt Function',NULL,19849,NULL,'Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate.',NULL,NULL,NULL,NULL,NULL),(16718,'UniProt Function',NULL,19850,NULL,'Phosphatase that acts on lipids with a phosphoinositol headgroup. Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4+ T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3 phosphatase. Negatively regulates proliferation of reactivated CD4+ T-cells.',NULL,NULL,NULL,NULL,NULL),(16719,'UniProt Function',NULL,19852,NULL,'Guanine nucleotide exchange factor (GEF) which may activate RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.',NULL,NULL,NULL,NULL,NULL),(16720,'UniProt Function',NULL,19853,NULL,'Negative regulator of sphingolipid synthesis.',NULL,NULL,NULL,NULL,NULL),(16721,'UniProt Function',NULL,19854,NULL,'Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2) signaling.',NULL,NULL,NULL,NULL,NULL),(16722,'UniProt Function',NULL,19855,NULL,'Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity).',NULL,NULL,NULL,NULL,NULL),(16723,'UniProt Function',NULL,19856,NULL,'Negative regulator of hepatic phosphatidylinositol 3-kinase (PI3K) activity.',NULL,NULL,NULL,NULL,NULL),(16724,'UniProt Function',NULL,19857,NULL,'Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces (PubMed:23475612, PubMed:8939939, PubMed:26224785, PubMed:25108285, PubMed:22236406). Required for the secretion of plasma lipoproteins that contain apolipoprotein B (PubMed:23475612, PubMed:8939939, PubMed:26224785).',NULL,NULL,NULL,NULL,NULL),(16725,'UniProt Function',NULL,19858,NULL,'High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity.',NULL,NULL,NULL,NULL,NULL),(16726,'UniProt Function',NULL,19860,NULL,'Microtubule-associated factor involved in the late phase of epithelial polarization and microtubule dynamics regulation. Plays a role in the development and maintenance of non-centrosomal microtubule bundles at the lateral membrane in polarized epithelial cells.',NULL,NULL,NULL,NULL,NULL),(16727,'UniProt Function',NULL,19861,NULL,'Although its dehydrogenase activity is NAD-specific, it can also utilize NADP at a reduced efficiency.',NULL,NULL,NULL,NULL,NULL),(16728,'UniProt Function',NULL,19862,NULL,'Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays mitochondrial GTPase activity.',NULL,NULL,NULL,NULL,NULL),(16729,'UniProt Function',NULL,19863,NULL,'Receptor that mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. OxLDL is a marker of atherosclerosis that induces vascular endothelial cell activation and dysfunction, resulting in pro-inflammatory responses, pro-oxidative conditions and apoptosis. Its association with oxLDL induces the activation of NF-kappa-B through an increased production of intracellular reactive oxygen and a variety of pro-atherogenic cellular responses including a reduction of nitric oxide (NO) release, monocyte adhesion and apoptosis. In addition to binding oxLDL, it acts as a receptor for the HSP70 protein involved in antigen cross-presentation to naive T-cells in dendritic cells, thereby participating in cell-mediated antigen cross-presentation. Also involved in inflammatory process, by acting as a leukocyte-adhesion molecule at the vascular interface in endotoxin-induced inflammation. Also acts as a receptor for advanced glycation end (AGE) products, activated platelets, monocytes, apoptotic cells and both Gram-negative and Gram-positive bacteria.',NULL,NULL,NULL,NULL,NULL),(16730,'UniProt Function',NULL,19864,NULL,'May have a role in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(16731,'UniProt Function',NULL,19865,NULL,'Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues (PubMed:10733931).',NULL,NULL,NULL,NULL,NULL),(16732,'UniProt Function',NULL,19866,NULL,'Phosphatase that acts on lipids with a phosphoinositol headgroup.',NULL,NULL,NULL,NULL,NULL),(16733,'UniProt Function',NULL,19867,NULL,'Probable pseudophosphatase. Contains a Gly residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential).',NULL,NULL,NULL,NULL,NULL),(16734,'UniProt Function',NULL,19869,NULL,'Catalyzes the interconversion of methylthioribose-1-phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1-P). Independently from catalytic activity, promotes cell invasion in response to constitutive RhoA activation by promoting FAK tyrosine phosphorylation and stress fiber turnover.',NULL,NULL,NULL,NULL,NULL),(16735,'UniProt Function',NULL,19870,NULL,'Negative regulator of sphingolipid synthesis.',NULL,NULL,NULL,NULL,NULL),(16736,'UniProt Function',NULL,19871,NULL,'The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.',NULL,NULL,NULL,NULL,NULL),(16737,'UniProt Function',NULL,19872,NULL,'The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.',NULL,NULL,NULL,NULL,NULL),(16738,'UniProt Function',NULL,19873,NULL,'May regulate MCM3AP phosphorylation through phosphatase recruitment. May act as a negative regulator of ABCB1 expression and function through the dephosphorylation of ABCB1 by TFPI2/PPP2R3C complex. May play a role in the activation-induced cell death of B-cells.',NULL,NULL,NULL,NULL,NULL),(16739,'UniProt Function',NULL,19874,NULL,'Upstream regulator of interferon-induced serine/threonine protein kinase R (PKR). May block the PKR-inhibitory function of DNAJC3, resulting in restoration of kinase activity and suppression of cell growth.',NULL,NULL,NULL,NULL,NULL),(16740,'UniProt Function',NULL,19875,NULL,'Does not bind melatonin.',NULL,NULL,NULL,NULL,NULL),(16741,'UniProt Function',NULL,19876,NULL,'Exhibits weak E3 ubiquitin-protein ligase activity (PubMed:18591963, PubMed:19407830, PubMed:22410793). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates (PubMed:18591963, PubMed:19407830, PubMed:22410793). Can ubiquitinate AKT1 preferentially at \'Lys-284\' involving \'Lys-48\'-linked polyubiquitination and seems to be involved in regulation of Akt signaling by targeting phosphorylated Akt to proteosomal degradation (PubMed:22410793). Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations (PubMed:19407830). Plays a role in the control of mitochondrial morphology by promoting mitochondrial fragmentation, and influences mitochondrial localization (PubMed:19407830, PubMed:18207745, PubMed:18213395). Likely to promote mitochondrial fission through negatively regulating the mitochondrial fusion proteins MFN1 and MFN2, acting in a pathway that is parallel to the PRKN/PINK1 regulatory pathway (PubMed:24898855). May also be involved in the sumoylation of the membrane fission protein DNM1L (PubMed:18207745, PubMed:19407830). Inhibits cell growth (PubMed:18591963, PubMed:22410793). When overexpressed, activates JNK through MAP3K7/TAK1 and induces caspase-dependent apoptosis (PubMed:23399697). Involved in the modulation of innate immune defense against viruses by inhibiting DDX58-dependent antiviral response (PubMed:23399697). Can mediate DDX58 sumoylation and disrupt its polyubiquitination (PubMed:23399697).',NULL,NULL,NULL,NULL,NULL),(16742,'UniProt Function',NULL,19877,NULL,'Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes (PubMed:1374913, PubMed:11241183, PubMed:1476165). Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A1 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Required for normal embryonic heart development and the onset of heart contractions.',NULL,NULL,NULL,NULL,NULL),(16743,'UniProt Function',NULL,19878,NULL,'N-alpha-acetyltransferase that specifically mediates the acetylation of the acidic amino terminus of processed forms of beta- and gamma-actin (ACTB and ACTG, respectively) (PubMed:30028079, PubMed:29581253). N-terminal acetylation of processed beta- and gamma-actin regulates actin filament depolymerization and elongation (PubMed:29581253). In vivo, preferentially displays N-terminal acetyltransferase activity towards acid N-terminal sequences starting with Asp-Asp-Asp and Glu-Glu-Glu (PubMed:30028079, PubMed:29581253). In vitro, shows high activity towards Met-Asp-Glu-Leu and Met-Asp-Asp-Asp (PubMed:10644992, PubMed:29581307). May act as a tumor suppressor (PubMed:10644992).',NULL,NULL,NULL,NULL,NULL),(16744,'UniProt Function',NULL,19879,NULL,'May be involved in processing of pneumocyte surfactant precursors.',NULL,NULL,NULL,NULL,NULL),(16745,'UniProt Function',NULL,19880,NULL,'May act as a transcription regulator (By similarity). When overexpressed, promotes entry of cells into S phase and cell proliferation.',NULL,NULL,NULL,NULL,NULL),(16746,'UniProt Function',NULL,19882,NULL,'RNA cytidine acetyltransferase with specificity toward both 18S rRNA and tRNAs (PubMed:25411247, PubMed:25653167). Catalyzes the formation of N(4)-acetylcytidine (ac4C) at position 1842 in 18S rRNA (PubMed:25411247). May also catalyze the formation of ac4C at position 1337 in 18S rRNA (By similarity). Required for early nucleolar cleavages of precursor rRNA at sites A0, A1 and A2 during 18S rRNA synthesis (PubMed:25411247, PubMed:25653167). Catalyzes the formation of ac4C in serine and leucine tRNAs (By similarity). Requires the tRNA-binding adapter protein THUMBD1 for full tRNA acetyltransferase activity but not for 18S rRNA acetylation (PubMed:25653167). Can acetylate both histones and microtubules (PubMed:14592445, PubMed:17631499, PubMed:19303003). Histone acetylation may regulate transcription and mitotic chromosome de-condensation (PubMed:17631499). Activates telomerase activity by stimulating the transcription of TERT, and may also regulate telomerase function by affecting the balance of telomerase subunit assembly, disassembly, and localization (PubMed:14592445, PubMed:18082603). Acetylates alpha-tubulin, which may affect microtubule stability and cell division (PubMed:19303003).',NULL,NULL,NULL,NULL,NULL),(16747,'UniProt Function',NULL,19883,NULL,'Possesses 3\' to 5\' helicase activity and exonuclease activity. Involved in neuronal development, specifically in the development of different sensory organs.',NULL,NULL,NULL,NULL,NULL),(16748,'UniProt Function',NULL,19884,NULL,'Probable acetyltransferase that binds the 5\'-GGACTACAG-3\' sequence of coproporphyrinogen oxidase promoter. Able to activate transcription of a reporter construct in vitro.',NULL,NULL,NULL,NULL,NULL),(16749,'UniProt Function',NULL,19885,NULL,'May have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6-acetylation of various proteins. Thereby, may regulate apoptosis through the acetylation and the regulation of the expression of PROM1 (PubMed:24556617). May also regulate amyloid beta-peptide secretion through acetylation of BACE1 and the regulation of its expression in neurons (PubMed:19011241).',NULL,NULL,NULL,NULL,NULL),(16750,'UniProt Function',NULL,19886,NULL,'Transcriptional coactivator for steroid receptors and nuclear receptors. Coactivator of the steroid binding domain (AF-2) but not of the modulating N-terminal domain (AF-1). Required with NCOA1 to control energy balance between white and brown adipose tissues. Critical regulator of glucose metabolism regulation, acts as RORA coactivator to specifically modulate G6PC expression. Involved in the positive regulation of the transcriptional activity of the glucocorticoid receptor NR3C1 by sumoylation enhancer RWDD3. Positively regulates the circadian clock by acting as a transcriptional coactivator for the CLOCK-ARNTL/BMAL1 heterodimer (By similarity).',NULL,NULL,NULL,NULL,NULL),(16751,'UniProt Function',NULL,19887,NULL,'Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane.',NULL,NULL,NULL,NULL,NULL),(16752,'UniProt Function',NULL,19888,NULL,'Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).',NULL,NULL,NULL,NULL,NULL),(16753,'UniProt Function',NULL,19889,NULL,'Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex.',NULL,NULL,NULL,NULL,NULL),(16754,'UniProt Function',NULL,19890,NULL,'Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species.',NULL,NULL,NULL,NULL,NULL),(16755,'UniProt Function',NULL,19891,NULL,'Probable guanine nucleotide exchange factor (GEF) which may activate RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. According to PubMed:8056341, it may bind to ISRE-like element (interferon-stimulated response element) of MYC P2 promoter.',NULL,NULL,NULL,NULL,NULL),(16756,'UniProt Function',NULL,19892,NULL,'Fast twitching myosin mediating the high-velocity and low-tension contractions of specific striated muscles.',NULL,NULL,NULL,NULL,NULL),(16757,'UniProt Function',NULL,19893,NULL,'May control the transcriptional activity of MYC. Stimulates the activation of E box-dependent transcription by MYC.',NULL,NULL,NULL,NULL,NULL),(16758,'UniProt Function',NULL,19894,NULL,'Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10.',NULL,NULL,NULL,NULL,NULL),(16759,'UniProt Function',NULL,19895,NULL,'Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.',NULL,NULL,NULL,NULL,NULL),(16760,'UniProt Function',NULL,19897,NULL,'May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues.',NULL,NULL,NULL,NULL,NULL),(16761,'UniProt Function',NULL,19898,NULL,'Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines.',NULL,NULL,NULL,NULL,NULL),(16762,'UniProt Function',NULL,19900,NULL,'Non-catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp-Glu. May play a role in normal cell-cycle progression.',NULL,NULL,NULL,NULL,NULL),(16763,'UniProt Function',NULL,19901,NULL,'Plays a role in axon and dendrite arborization during cranial nerve development. May also be important for neural crest migration and early development of other anterior structures including eye, brain and cranial cartilage.',NULL,NULL,NULL,NULL,NULL),(16764,'UniProt Function',NULL,19904,NULL,'Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Involved in the import of catalase and proteins containing a PTS2 target sequence, but not in import of proteins with a PTS1 target sequence.',NULL,NULL,NULL,NULL,NULL),(16765,'UniProt Function',NULL,19905,NULL,'Inhibitor of the E3 ubiquitin-protein ligase ITCH. Acts by interacting with the second WW domain of ITCH, leading to compete with ITCH\'s substrates and impairing ubiquitination of substrates (By similarity).',NULL,NULL,NULL,NULL,NULL),(16766,'UniProt Function',NULL,19906,NULL,'Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells. Contributes to the rapid decrease of cytoplasmic Ca(2+) levels back to baseline after neuronal activation, and thereby contributes to modulate synaptic plasticity, learning and memory. Plays a role in regulating urinary Ca(2+) and Na(+) excretion.',NULL,NULL,NULL,NULL,NULL),(16767,'UniProt Function',NULL,19907,NULL,'Has N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity. Also exhibits a dipeptidyl-peptidase IV type activity. Inactivate the peptide neurotransmitter N-acetylaspartylglutamate.',NULL,NULL,NULL,NULL,NULL),(16768,'UniProt Function',NULL,19909,NULL,'Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the central part but not the margins of spreading cells), and lamellipodial extension; this function is mechanically antagonized by MYH9.',NULL,NULL,NULL,NULL,NULL),(16769,'UniProt Function',NULL,19910,NULL,'Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle.',NULL,NULL,NULL,NULL,NULL),(16770,'UniProt Function',NULL,19911,NULL,'Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYOG and MYOD1, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.',NULL,NULL,NULL,NULL,NULL),(16771,'UniProt Function',NULL,19912,NULL,'Probable actin-based motor with a protein kinase activity. Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments.',NULL,NULL,NULL,NULL,NULL),(16772,'UniProt Function',NULL,19913,NULL,'Muscle contraction.',NULL,NULL,NULL,NULL,NULL),(16773,'UniProt Function',NULL,19914,NULL,'Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.',NULL,NULL,NULL,NULL,NULL),(16774,'UniProt Function',NULL,19915,NULL,'Catalytic subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity (PubMed:15496142, PubMed:19826488, PubMed:19420222, PubMed:20145209, PubMed:27708256, PubMed:25489052). Acetylates amino termini that are devoid of initiator methionine (PubMed:19420222). The alpha (N-terminal) acetyltransferase activity may be important for vascular, hematopoietic and neuronal growth and development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting its degradation (PubMed:12464182). Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration (PubMed:19826488). Acetylates, and stabilizes TSC2, thereby repressing mTOR activity and suppressing cancer development (PubMed:20145209). Acetylates HSPA1A and HSPA1B at \'Lys-77\' which enhances its chaperone activity and leads to preferential binding to co-chaperone HOPX (PubMed:27708256). Acts as a negative regulator of sister chromatid cohesion during mitosis (PubMed:27422821).',NULL,NULL,NULL,NULL,NULL),(16775,'UniProt Function',NULL,19916,NULL,'Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Contributes to tumor progression, and tumor cell proliferation and survival. This may be mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines.',NULL,NULL,NULL,NULL,NULL),(16776,'UniProt Function',NULL,19917,NULL,'Somewhat implicated in the biogenesis of peroxisomes.',NULL,NULL,NULL,NULL,NULL),(16777,'UniProt Function',NULL,19918,NULL,'N-alpha-acetyltransferase that specifically mediates the acetylation of N-terminal residues of the transmembrane proteins, with a strong preference for N-termini facing the cytosol (PubMed:25732826). Displays N-terminal acetyltransferase activity towards a range of N-terminal sequences including those starting with Met-Lys, Met-Val, Met-Ala and Met-Met (PubMed:21750686, PubMed:25732826, PubMed:27550639, PubMed:27320834). Required for normal chromosomal segregation during anaphase (PubMed:21750686). May also show histone acetyltransferase activity; such results are however unclear in vivo and would require additional experimental evidences (PubMed:21981917).',NULL,NULL,NULL,NULL,NULL),(16778,'UniProt Function',NULL,19919,NULL,'May be catalytically inactive.',NULL,NULL,NULL,NULL,NULL),(16779,'UniProt Function',NULL,19920,NULL,'Has ADP-ribosyltransferase activity toward GLP1R.',NULL,NULL,NULL,NULL,NULL),(16780,'UniProt Function',NULL,19923,NULL,'May be involved in neuronal migration.',NULL,NULL,NULL,NULL,NULL),(16781,'UniProt Function',NULL,19926,NULL,'RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4.',NULL,NULL,NULL,NULL,NULL),(16782,'UniProt Function',NULL,19927,NULL,'Involved in inflammation.',NULL,NULL,NULL,NULL,NULL),(16783,'UniProt Function',NULL,19928,NULL,'May be involved in inflammation and spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(16784,'UniProt Function',NULL,19929,NULL,'NAALADase-like activity unknown. Has no NAAG hydrolyzing activity. Exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC (By similarity).',NULL,NULL,NULL,NULL,NULL),(16785,'UniProt Function',NULL,19930,NULL,'Involved in inflammation.',NULL,NULL,NULL,NULL,NULL),(16786,'UniProt Function',NULL,19932,NULL,'NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4-disulfophenyl]-2H tetrazolium monosodium salt (WST-1).',NULL,NULL,NULL,NULL,NULL),(16787,'UniProt Function',NULL,19934,NULL,'This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5.',NULL,NULL,NULL,NULL,NULL),(16788,'UniProt Function',NULL,19935,NULL,'Essential hematopoietic-specific regulator of the actin cytoskeleton (Probable). Controls lymphocyte development, activation, proliferation and homeostasis, erythrocyte membrane stability, as well as phagocytosis and migration by neutrophils and macrophages (PubMed:16417406, PubMed:17696648). Component of the WAVE2 complex which signals downstream of RAC to stimulate F-actin polymerization. Required for stabilization and/or translation of the WAVE2 complex proteins in hematopoietic cells (By similarity). Exhibits complex cycles of activation and inhibition to generate waves of propagating the assembly with actin (PubMed:16417406). Also involved in mechanisms WAVE-independent to regulate myosin and actin polymerization during neutrophil chemotaxis (PubMed:17696648).',NULL,NULL,NULL,NULL,NULL),(16789,'UniProt Function',NULL,19936,NULL,'Required for organization of the cellular microtubule array and microtubule anchoring at the centrosome. May regulate microtubule organization at least in part by targeting the microtubule severing protein KATNA1 to the centrosome. Also positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus ends. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the centripetal motion of secretory vesicles and the coupling of the nucleus and centrosome. Also required during brain development for the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Plays a role, together with DISC1, in the regulation of neurite outgrowth. Required for mitosis in some cell types but appears to be dispensible for mitosis in cortical neuronal progenitors, which instead requires NDE1. Facilitates the polymerization of neurofilaments from the individual subunits NEFH and NEFL. Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity).',NULL,NULL,NULL,NULL,NULL),(16790,'UniProt Function',NULL,19937,NULL,'Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Coactivates expression in an agonist- and AF2-dependent manner. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ERs), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Probably functions as a general coactivator, rather than just a nuclear receptor coactivator. May also be involved in the coactivation of the NF-kappa-B pathway. May coactivate expression via a remodeling of chromatin and its interaction with histone acetyltransferase proteins.',NULL,NULL,NULL,NULL,NULL),(16791,'UniProt Function',NULL,19938,NULL,'Mediates transcriptional repression by certain nuclear receptors (PubMed:20812024). Part of a complex which promotes histone deacetylation and the formation of repressive chromatin structures which may impede the access of basal transcription factors. Participates in the transcriptional repressor activity produced by BCL6. Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024).',NULL,NULL,NULL,NULL,NULL),(16792,'UniProt Function',NULL,19939,NULL,'Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate (By similarity).',NULL,NULL,NULL,NULL,NULL),(16793,'UniProt Function',NULL,19940,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(16794,'UniProt Function',NULL,19941,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized.',NULL,NULL,NULL,NULL,NULL),(16795,'UniProt Function',NULL,19943,NULL,'Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres (PubMed:27733623). Isoform 2 might play a role in the assembly of focal adhesion (PubMed:15004028).',NULL,NULL,NULL,NULL,NULL),(16796,'UniProt Function',NULL,19944,NULL,'Binds to the DNA consensus sequence 5\'-GGGGAATCTCC-3\'.',NULL,NULL,NULL,NULL,NULL),(16797,'UniProt Function',NULL,19944,NULL,'Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Modulates the deubiquitinase activity of UCHL5 in the INO80 complex.',NULL,NULL,NULL,NULL,NULL),(16798,'UniProt Function',NULL,19945,NULL,'Acts as a transcriptional regulator. Together with NKX2-2, initiates transcriptional activation of NEUROD1. Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity).',NULL,NULL,NULL,NULL,NULL),(16799,'UniProt Function',NULL,19946,NULL,'Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system.',NULL,NULL,NULL,NULL,NULL),(16800,'UniProt Function',NULL,19947,NULL,'Sulfated glycoprotein widely distributed in basement membranes and tightly associated with laminin. Also binds to collagen IV and perlecan. It probably has a role in cell-extracellular matrix interactions.',NULL,NULL,NULL,NULL,NULL),(16801,'UniProt Function',NULL,19948,NULL,'Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway.',NULL,NULL,NULL,NULL,NULL),(16802,'UniProt Function',NULL,19950,NULL,'May act as a positive regulator of L-type calcium channels.',NULL,NULL,NULL,NULL,NULL),(16803,'UniProt Function',NULL,19952,NULL,'Transcription factor.',NULL,NULL,NULL,NULL,NULL),(16804,'UniProt Function',NULL,19953,NULL,'Putative neuronal cell surface protein involved in cell-cell-interactions.',NULL,NULL,NULL,NULL,NULL),(16805,'UniProt Function',NULL,19954,NULL,'Neuromedin-U-25: Ligand for receptors NMUR1 and NMUR2 (By similarity). Stimulates muscle contractions of specific regions of the gastrointestinal tract. In humans, NmU stimulates contractions of the ileum and urinary bladder.',NULL,NULL,NULL,NULL,NULL),(16806,'UniProt Function',NULL,19954,NULL,'Neuromedin precursor-related peptide 33: Does not function as a ligand for either NMUR1 or NMUR2. Indirectly induces prolactin release although its potency is much lower than that of neuromedin precursor-related peptide 36.',NULL,NULL,NULL,NULL,NULL),(16807,'UniProt Function',NULL,19954,NULL,'Neuromedin precursor-related peptide 36: Does not function as a ligand for either NMUR1 or NMUR2. Indirectly induces prolactin release from lactotroph cells in the pituitary gland, probably via the hypothalamic dopaminergic system.',NULL,NULL,NULL,NULL,NULL),(16808,'UniProt Function',NULL,19955,NULL,'Involved in the biogenesis of the 60S ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(16809,'UniProt Function',NULL,19957,NULL,'Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR.',NULL,NULL,NULL,NULL,NULL),(16810,'UniProt Function',NULL,19958,NULL,'Calcium-dependent NADPH oxidase that generates superoxide. Also functions as a calcium-dependent proton channel and may regulate redox-dependent processes in lymphocytes and spermatozoa. May play a role in cell growth and apoptosis. Isoform v2 and isoform v5 are involved in endothelial generation of reactive oxygen species (ROS), proliferation and angiogenesis and contribute to endothelial response to thrombin.',NULL,NULL,NULL,NULL,NULL),(16811,'UniProt Function',NULL,19960,NULL,'Immediate-early protein playing a role in various cellular processes including proliferation, adhesion, migration, differentiation and survival (PubMed:15181016, PubMed:15611078, PubMed:12695522, PubMed:21344378, PubMed:12050162). Acts by binding to integrins or membrane receptors such as NOTCH1 (PubMed:12695522, PubMed:21344378, PubMed:15611078). Essential regulator of hematopoietic stem and progenitor cell function (PubMed:17463287). Inhibits myogenic differentiation through the activation of Notch-signaling pathway (PubMed:12050162). Inhibits vascular smooth muscle cells proliferation by increasing expression of cell-cycle regulators such as CDKN2B or CDKN1A independently of TGFB1 signaling (PubMed:20139355). Ligand of integrins ITGAV:ITGB3 and ITGA5:ITGB1, acts directly upon endothelial cells to stimulate pro-angiogenic activities and induces angiogenesis. In endothelial cells, supports cell adhesion, induces directed cell migration (chemotaxis) and promotes cell survival (PubMed:12695522). Plays also a role in cutaneous wound healing acting as integrin receptor ligand. Supports skin fibroblast adhesion through ITGA5:ITGB1 and ITGA6:ITGB1 and induces fibroblast chemotaxis through ITGAV:ITGB5. Seems to enhance bFGF-induced DNA synthesis in fibroblasts (PubMed:15611078). Involved in bone regeneration as a negative regulator (By similarity). Enhances the articular chondrocytic phenotype, whereas it repressed the one representing endochondral ossification (PubMed:21871891). Impairs pancreatic beta-cell function, inhibits beta-cell proliferation and insulin secretion (By similarity). Plays a role as negative regulator of endothelial pro-inflammatory activation reducing monocyte adhesion, its anti-inflammatory effects occur secondary to the inhibition of NF-kappaB signaling pathway (PubMed:21063504). Contributes to the control and coordination of inflammatory processes in atherosclerosis (By similarity). Attenuates inflammatory pain through regulation of IL1B- and TNF-induced MMP9, MMP2 and CCL2 expression. Inhibits MMP9 expression through ITGB1 engagement (PubMed:21871891).',NULL,NULL,NULL,NULL,NULL),(16812,'UniProt Function',NULL,19961,NULL,'Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and accelerating its degradation.',NULL,NULL,NULL,NULL,NULL),(16813,'UniProt Function',NULL,19962,NULL,'Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus (PubMed:21378985, PubMed:21378989). Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation (PubMed:29149593). Positively regulates self-renewal of liver cancer cells (PubMed:25985737).',NULL,NULL,NULL,NULL,NULL),(16814,'UniProt Function',NULL,19963,NULL,'May be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of surfactant in lungs\' alveoli.',NULL,NULL,NULL,NULL,NULL),(16815,'UniProt Function',NULL,19964,NULL,'Interacts specifically with a number of opioid ligands. Receptor for neuropeptides B and W, which may be involved in neuroendocrine system regulation, food intake and the organization of other signals.',NULL,NULL,NULL,NULL,NULL),(16816,'UniProt Function',NULL,19965,NULL,'Isoform 2: voltage-driven, multispecific, organic anion transporter able to transport para-aminohippurate (PAH), estrone sulfate, estradiol-17-beta-glucuronide, bumetanide, and ochratoxin A. Isoform 2 functions as urate efflux transporter on the apical side of renal proximal tubule and is likely to act as an exit path for organic anionic drugs as well as urate in vivo. May be involved in actively transporting phosphate into cells via Na(+) cotransport.',NULL,NULL,NULL,NULL,NULL),(16817,'UniProt Function',NULL,19966,NULL,'Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:9211849, PubMed:9927649, PubMed:10821832, PubMed:18772377, PubMed:27238017, PubMed:12554680). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:9211849, PubMed:9927649, PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:28784760). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable).',NULL,NULL,NULL,NULL,NULL),(16818,'UniProt Function',NULL,19966,NULL,'(Microbial infection) Acts as an endosomal entry receptor for ebolavirus.',NULL,NULL,NULL,NULL,NULL),(16819,'UniProt Function',NULL,19967,NULL,'Likely to play role in the modification of cellular properties that underlie long-term plasticity. Binds to agar matrix in a calcium-dependent manner (By similarity).',NULL,NULL,NULL,NULL,NULL),(16820,'UniProt Function',NULL,19968,NULL,'Neuropeptide RFRP-1 acts as a potent negative regulator of gonadotropin synthesis and secretion. Neuropeptides NPSF and NPVF efficiently inhibit forskolin-induced production of cAMP, but RFRP-2 shows no inhibitory activity. Neuropeptide RFRP-1 induces secretion of prolactin in rats. Neuropeptide NPVF blocks morphine-induced analgesia.',NULL,NULL,NULL,NULL,NULL),(16821,'UniProt Function',NULL,19969,NULL,'Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is PYY > NPY > PYY (3-36) > NPY (2-36) > [Ile-31, Gln-34] PP > [Leu-31, Pro-34] NPY > PP, [Pro-34] PYY and NPY free acid.',NULL,NULL,NULL,NULL,NULL),(16822,'UniProt Function',NULL,19970,NULL,'Catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln. Proteins with cell cycle functions are overrepresented in the pool of NatB substrates. Required for maintaining the structure and function of actomyosin fibers and for proper cellular migration.',NULL,NULL,NULL,NULL,NULL),(16823,'UniProt Function',NULL,19971,NULL,'Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes.',NULL,NULL,NULL,NULL,NULL),(16824,'UniProt Function',NULL,19972,NULL,'May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK.',NULL,NULL,NULL,NULL,NULL),(16825,'UniProt Function',NULL,19974,NULL,'Suppresses TNF- and CD40-induced NFKB1 activity at the level of the IKK complex, by inhibiting NFKBIA degradation induced by TNF. When associated with PYCARD, activates CASP1, leading to the secretion of mature proinflammatory cytokine IL1B. May be a component of the inflammasome, a protein complex which also includes PYCARD, CARD8 and CASP1 and whose function would be the activation of proinflammatory caspases.',NULL,NULL,NULL,NULL,NULL),(16826,'UniProt Function',NULL,19975,NULL,'Plays a key role in the sexual differentiation of germ cells by promoting the male fate but suppressing the female fate. Represses the female fate pathways by suppressing meiosis, which in turn results in the promotion of the male fate. Maintains the suppression of meiosis by preventing STRA8 expression, which is required for premeiotic DNA replication, after CYP26B1 is decreased. Regulates the localization of the CCR4-NOT deadenylation complex to P-bodies and plays a role in recruiting the complex to trigger the degradation of mRNAs involved in meiosis. Required for the maintenance of the spermatogonial stem cell population. Not essential for the assembly of P-bodies but is required for the maintenance of their normal state (By similarity).',NULL,NULL,NULL,NULL,NULL),(16827,'UniProt Function',NULL,19977,NULL,'Required for DNA replication, normal cell cycle progression and cell proliferation. Forms a cytoplasmic complex with HSP90 and H1 linker histones and stimulates HSP90 ATPase activity. NASP and H1 histone are subsequently released from the complex and translocate to the nucleus where the histone is released for binding to DNA.',NULL,NULL,NULL,NULL,NULL),(16828,'UniProt Function',NULL,19978,NULL,'May regulate IL2 production by T-cells. May be involved in neuron regeneration.',NULL,NULL,NULL,NULL,NULL),(16829,'UniProt Function',NULL,19979,NULL,'Probable N-acetyltransferase. Shows only trace activity toward L-His and no N-acetyltransferase activity toward other amino acids. The physiological substrate of this enzyme is unknown.',NULL,NULL,NULL,NULL,NULL),(16830,'UniProt Function',NULL,19980,NULL,'NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.',NULL,NULL,NULL,NULL,NULL),(16831,'UniProt Function',NULL,19982,NULL,'Adapter protein which associates with tyrosine-phosphorylated growth factor receptors, such as KDR and PDGFRB, or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in the DNA damage response, not in the detection of the damage by ATM/ATR, but for efficient activation of downstream effectors, such as that of CHEK2. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling. Modulates the activation of EIF2AK2/PKR by dsRNA. May play a role in cell adhesion and migration through interaction with ephrin receptors.',NULL,NULL,NULL,NULL,NULL),(16832,'UniProt Function',NULL,19983,NULL,'The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own.',NULL,NULL,NULL,NULL,NULL),(16833,'UniProt Function',NULL,19984,NULL,'Probably acts as a transcriptional activator. Mediates neuronal differentiation. Required for the regulation of amacrine cell fate specification in the retina (By similarity).',NULL,NULL,NULL,NULL,NULL),(16834,'UniProt Function',NULL,19985,NULL,'Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Probably has a role in normal hematopoiesis by inhibition of granulocyte differentiation and induction of apoptosis.',NULL,NULL,NULL,NULL,NULL),(16835,'UniProt Function',NULL,19986,NULL,'Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.',NULL,NULL,NULL,NULL,NULL),(16836,'UniProt Function',NULL,19987,NULL,'Inhibits autoprocessing of CASP1, CASP1-dependent IL1B secretion, PYCARD aggregation and PYCARD-mediated apoptosis but not apoptosis induced by FAS or BID (PubMed:15096476). Displays anti-inflammatory activity (PubMed:20393137). Required for immunity against C.albicans infection (By similarity). Involved in the innate immune response by contributing to proinflammatory cytokine release in response to invasive bacterial infection (PubMed:22672233). Contributes to T-cell-mediated inflammatory responses in the skin (By similarity). Plays a role in protection against periodontitis through its involvement in induction of IL1A via ERK activation in oral epithelial cells infected with periodontal pathogens (PubMed:28766990). Exhibits both ATPase and GTPase activities (PubMed:23861819).',NULL,NULL,NULL,NULL,NULL),(16837,'UniProt Function',NULL,19993,NULL,'Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Involved in the coactivation of different nuclear receptors, such as for steroids (PGR, GR and ER), retinoids (RXRs), thyroid hormone (TRs) and prostanoids (PPARs). Also involved in coactivation mediated by STAT3, STAT5A, STAT5B and STAT6 transcription factors. Displays histone acetyltransferase activity toward H3 and H4; the relevance of such activity remains however unclear. Plays a central role in creating multisubunit coactivator complexes that act via remodeling of chromatin, and possibly acts by participating in both chromatin remodeling and recruitment of general transcription factors. Required with NCOA2 to control energy balance between white and brown adipose tissues. Required for mediating steroid hormone response. Isoform 2 has a higher thyroid hormone-dependent transactivation activity than isoform 1 and isoform 3.',NULL,NULL,NULL,NULL,NULL),(16838,'UniProt Function',NULL,19994,NULL,'Acts probably as a receptor for selective autophagosomal degradation of ubiquitinated targets.',NULL,NULL,NULL,NULL,NULL),(16839,'UniProt Function',NULL,19995,NULL,'Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Plays a central role in creating a multisubunit coactivator complex, which probably acts via remodeling of chromatin. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ER), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Displays histone acetyltransferase activity. Also involved in the coactivation of the NF-kappa-B pathway via its interaction with the NFKB1 subunit.',NULL,NULL,NULL,NULL,NULL),(16840,'UniProt Function',NULL,19996,NULL,'Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).',NULL,NULL,NULL,NULL,NULL),(16841,'UniProt Function',NULL,19997,NULL,'May be required for activation of the latent NADPH oxidase (necessary for superoxide production).',NULL,NULL,NULL,NULL,NULL),(16842,'UniProt Function',NULL,19998,NULL,'May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning.',NULL,NULL,NULL,NULL,NULL),(16843,'UniProt Function',NULL,19999,NULL,'Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5\'-CANNTG-3\'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(16844,'UniProt Function',NULL,20000,NULL,'Does not seem to have NDK kinase activity. Confers protection from cell death by Bax and alters the cellular levels of several antioxidant enzymes including Gpx5. May play a role in spermiogenesis by increasing the ability of late-stage spermatids to eliminate reactive oxygen species (By similarity).',NULL,NULL,NULL,NULL,NULL),(16845,'UniProt Function',NULL,20001,NULL,'Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regulates microtubule dynamics and maintains euploidy.',NULL,NULL,NULL,NULL,NULL),(16846,'UniProt Function',NULL,20002,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(16847,'UniProt Function',NULL,20003,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).',NULL,NULL,NULL,NULL,NULL),(16848,'UniProt Function',NULL,20004,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:12611891).',NULL,NULL,NULL,NULL,NULL),(16849,'UniProt Function',NULL,20005,NULL,'Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May be involved in neurite formation. Inhibits protein phosphatase 1-alpha activity (By similarity).',NULL,NULL,NULL,NULL,NULL),(16850,'UniProt Function',NULL,20006,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(16851,'UniProt Function',NULL,20007,NULL,'Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.',NULL,NULL,NULL,NULL,NULL),(16852,'UniProt Function',NULL,20008,NULL,'Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:16200211, PubMed:27626371).',NULL,NULL,NULL,NULL,NULL),(16853,'UniProt Function',NULL,20009,NULL,'Acts as a neurotrophic factor in postnatal mature neurons enhancing neuronal survival. Promotes cell proliferation and neurogenesis in undifferentiated neural pro-genitor cells at the embryonic stage and inhibits differentiation of astrocyte. Its neurotrophic activity is exerted via MAPK1/ERK2, MAPK3/ERK1 and AKT1/AKT pathways. Neurotrophic activity is enhanced by binding to heme. Acts also as an anorexigenic neurotrophic factor that contributes to energy balance (By similarity). Plays a role in the human tumorigenesis (PubMed:22748190).',NULL,NULL,NULL,NULL,NULL),(16854,'UniProt Function',NULL,20010,NULL,'Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations.',NULL,NULL,NULL,NULL,NULL),(16855,'UniProt Function',NULL,20011,NULL,'Involved in the translational repression of cytoplasmic polyadenylation element (CPE)-containing mRNAs.',NULL,NULL,NULL,NULL,NULL),(16856,'UniProt Function',NULL,20012,NULL,'May play a role in cortex development as part of the Notch signaling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors. May also play a role in preimplentation embryo development.',NULL,NULL,NULL,NULL,NULL),(16857,'UniProt Function',NULL,20013,NULL,'Activates HECT domain-containing E3 ubiquitin-protein ligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, and consequently modulates the stability of their targets. As a result, may control many cellular processes. Recruits ITCH, NEDD4 and SMURF2 to endosomal membranes. Negatively regulates KCNH2 potassium channel activity by decreasing its cell-surface expression and interfering with channel maturation through recruitment of NEDD4L to the Golgi apparatus and multivesicular body where it mediates KCNH2 degradation (PubMed:26363003). May modulate EGFR signaling. Together with NDFIP1, limits the cytokine signaling and expansion of effector Th2 T-cells by promoting degradation of JAK1, probably by ITCH- and NEDD4L-mediated ubiquitination (By similarity).',NULL,NULL,NULL,NULL,NULL),(16858,'UniProt Function',NULL,20014,NULL,'Recognizes and binds the palindromic sequence 5\'-TTGGCNNNNNGCCAA-3\' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.',NULL,NULL,NULL,NULL,NULL),(16859,'UniProt Function',NULL,20015,NULL,'NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. In a non-canonical activation pathway, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. The NF-kappa-B heterodimeric RelB-p52 complex is a transcriptional activator. The NF-kappa-B p52-p52 homodimer is a transcriptional repressor. NFKB2 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p100 and generation of p52 by a cotranslational processing. The proteasome-mediated process ensures the production of both p52 and p100 and preserves their independent function. p52 binds to the kappa-B consensus sequence 5\'-GGRNNYYCC-3\', located in the enhancer region of genes involved in immune response and acute phase reactions. p52 and p100 are respectively the minor and major form; the processing of p100 being relatively poor. Isoform p49 is a subunit of the NF-kappa-B protein complex, which stimulates the HIV enhancer in synergy with p65. In concert with RELB, regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer.',NULL,NULL,NULL,NULL,NULL),(16860,'UniProt Function',NULL,20016,NULL,'DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary (PubMed:16439204, PubMed:16439205, PubMed:17470781). Binds DNA in a length-dependent manner (PubMed:17317666).',NULL,NULL,NULL,NULL,NULL),(16861,'UniProt Function',NULL,20017,NULL,'May function as a transcriptional corepressor through its interaction with COPS2, negatively regulating the expression of genes involved in neuronal differentiation.',NULL,NULL,NULL,NULL,NULL),(16862,'UniProt Function',NULL,20018,NULL,'Activates erythroid-specific, globin gene expression.',NULL,NULL,NULL,NULL,NULL),(16863,'UniProt Function',NULL,20019,NULL,'May play a role in apoptosis suppression. May promote melanoma cell invasion in vitro.',NULL,NULL,NULL,NULL,NULL),(16864,'UniProt Function',NULL,20020,NULL,'Acts as a selective Mg(2+) transporter.',NULL,NULL,NULL,NULL,NULL),(16865,'UniProt Function',NULL,20021,NULL,'Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.',NULL,NULL,NULL,NULL,NULL),(16866,'UniProt Function',NULL,20022,NULL,'Transcription factor, which binds preferentially the consensus sequence 5\'-TAAGT[AG]-3\' and can behave as a transcriptional repressor. Plays an important role in normal prostate development, regulating proliferation of glandular epithelium and in the formation of ducts in prostate. Acts as a tumor suppressor controlling prostate carcinogenesis, as shown by the ability to inhibit proliferation and invasion activities of PC-3 prostate cancer cells.',NULL,NULL,NULL,NULL,NULL),(16867,'UniProt Function',NULL,20023,NULL,'Essential component of a SCF-type E3 ligase complex, SCF(NIPA), a complex that controls mitotic entry by mediating ubiquitination and subsequent degradation of cyclin B1 (CCNB1). Its cell-cycle-dependent phosphorylation regulates the assembly of the SCF(NIPA) complex, restricting CCNB1 ubiquitination activity to interphase. Its inactivation results in nuclear accumulation of CCNB1 in interphase and premature mitotic entry. May have an antiapoptotic role in NPM-ALK-mediated signaling events.',NULL,NULL,NULL,NULL,NULL),(16868,'UniProt Function',NULL,20026,NULL,'PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Component of a putative tumor-recognition complex involved in the function of NK cells (PubMed:8421688).',NULL,NULL,NULL,NULL,NULL),(16869,'UniProt Function',NULL,20027,NULL,'Cell autonomous antagonist of the canonical Wnt signaling pathway. May activate a second Wnt signaling pathway that controls planar cell polarity (By similarity). Required for processing of TGFA and for targeting of TGFA to the basolateral membrane of polarized epithelial cells.',NULL,NULL,NULL,NULL,NULL),(16870,'UniProt Function',NULL,20028,NULL,'Negative regulator of the innate immune response (PubMed:15705585, PubMed:22863753, PubMed:25277106). Attenuates signaling pathways activated by Toll-like receptors (TLRs) and the DNA sensor STING/TMEM173 in response to pathogen-associated molecular patterns, such as intracellular poly(dA:dT), but not poly(I:C), or in response to DNA virus infection, including that of Herpes simplex virus 1 (HSV1) (By similarity) (PubMed:22863753). May affect TLR4 signaling by acting at the level of TRAF6 ubiquitination, decreasing the activating \'Lys-63\'-linked ubiquitination and leaving unchanged the degradative \'Lys-48\'-linked ubiquitination (PubMed:22863753). Inhibits the PI3K-AKT-mTOR pathway possibly by directly interacting with the posphatidylinositol 3-kinase regulatory subunit p85 (PIK3R1/PIK3R2) and disrupting the association between PIK3R1/PIK3R2 and the catalytic subunit p110 (PIK3CA/PIK3CB/PIK3CD) and reducing PIK3R1/PIK3R2 activation. Via its regulation of the PI3K-AKT-mTOR pathway, controls cell proliferation, predominantly in intestinal epithelial cells (By similarity). May also affect NOD1- or NOD2-mediated NF-kappa-B activation (PubMed:25277106). Might also affect the inflammatory response by preventing NLRP3 inflammasome formation, CASP1 cleavage and IL1B maturation (PubMed:25277106).',NULL,NULL,NULL,NULL,NULL),(16871,'UniProt Function',NULL,20029,NULL,'As the sensor component of the NLRP3 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP3, PYCARD and CASP1 (and possibly CASP4 and CASP5). Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu (PubMed:28847925). Activation of NLRP3 inflammasome is also required for HMGB1 secretion (PubMed:22801494). The active cytokines and HMGB1 stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death. Under resting conditions, NLRP3 is autoinhibited. NLRP3 activation stimuli include extracellular ATP, reactive oxygen species, K(+) efflux, crystals of monosodium urate or cholesterol, amyloid-beta fibers, environmental or industrial particles and nanoparticles, cytosolic dsRNA, etc. However, it is unclear what constitutes the direct NLRP3 activator. Activation in presence of cytosolic dsRNA is mediated by DHX33 (PubMed:23871209). Independently of inflammasome activation, regulates the differentiation of T helper 2 (Th2) cells and has a role in Th2 cell-dependent asthma and tumor growth (By similarity). During Th2 differentiation, required for optimal IRF4 binding to IL4 promoter and for IRF4-dependent IL4 transcription. Binds to the consensus DNA sequence 5\'-GRRGGNRGAG-3\'. May also participate in the transcription of IL5, IL13, GATA3, CCR3, CCR4 and MAF (By similarity).',NULL,NULL,NULL,NULL,NULL),(16872,'UniProt Function',NULL,20030,NULL,'NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine.',NULL,NULL,NULL,NULL,NULL),(16873,'UniProt Function',NULL,20031,NULL,'As the sensor component of the NLRP6 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP6, PYCARD and CASP1 (and possibly CASP4 and CASP5). Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. The precise NLRP6 activation stimulus has not been identified yet (By similarity) (PubMed:12387869). Essential for gut mucosal self-renewal and proliferation. Maintains intestinal homeostasis and a healthy intestinal microbiota. This function is, at least partially, mediated by IL18, and not IL1B, produced by nonhematopoietic cells. Influences intestinal barrier function and microbial homeostasis through the regulation of goblet cell mucus secretion. Acts by promoting autophagy in goblet cells, an essential step for mucus granule exocytosis. Its role in goblet cell physiology is inflammasome-dependent, but IL1B- and IL18-independent. During systemic bacterial infections, may negatively regulate inflammatory signaling and inhibit the influx of monocytes and neutrophils to the circulation and to the peritoneum. May promote peripheral nerve recovery following injury via an inflammasome-independent mechanism (By similarity).',NULL,NULL,NULL,NULL,NULL),(16874,'UniProt Function',NULL,20032,NULL,'Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:17402747). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency (PubMed:17402747). Can use triazofurin monophosphate (TrMP) as substrate (PubMed:17402747). Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+) (PubMed:17402747). For the pyrophosphorolytic activity, prefers NAD(+) and NaAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively (PubMed:17402747). Involved in the synthesis of ATP in the nucleus, together with PARP1, PARG and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+) (PubMed:17402747). Protects against axonal degeneration following mechanical or toxic insults (By similarity).',NULL,NULL,NULL,NULL,NULL),(16875,'UniProt Function',NULL,20033,NULL,'Functions as an activator of NOX1, a superoxide-producing NADPH oxidase. Functions in the production of reactive oxygen species (ROS) which participate in a variety of biological processes including host defense, hormone biosynthesis, oxygen sensing and signal transduction. May also activate CYBB/gp91phox and NOX3.',NULL,NULL,NULL,NULL,NULL),(16876,'UniProt Function',NULL,20034,NULL,'Constitutively potentiates the superoxide-generating activity of NOX1 and NOX3 and is required for the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. Isoform 3 is more potent than isoform 1 in activating NOX3. Together with NOXA1, may also substitute to NCF1/p47phox and NCF2/p67phox in supporting the phagocyte NOX2/gp91phox superoxide-generating activity.',NULL,NULL,NULL,NULL,NULL),(16877,'UniProt Function',NULL,20035,NULL,'Suppresses oncogenic transformation in neural and non-neural cells and down-regulates neural cell proliferation. Might be involved in transcriptional regulation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16878,'UniProt Function',NULL,20037,NULL,'Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4(+) and CD8(+) cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, functions as a receptor for neuronal DNER and is involved in the differentiation of Bergmann glia. Represses neuronal and myogenic differentiation. May play an essential role in postimplantation development, probably in some aspect of cell specification and/or differentiation. May be involved in mesoderm development, somite formation and neurogenesis. May enhance HIF1A function by sequestering HIF1AN away from HIF1A. Required for the THBS4 function in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury. Involved in determination of left/right symmetry by modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO).',NULL,NULL,NULL,NULL,NULL),(16879,'UniProt Function',NULL,20038,NULL,'NADPH oxidase which constitutively produces superoxide upon formation of a complex with CYBA/p22phox. Plays a role in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.',NULL,NULL,NULL,NULL,NULL),(16880,'UniProt Function',NULL,20039,NULL,'Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(16881,'UniProt Function',NULL,20040,NULL,'Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:21565611). Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may downregulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling (PubMed:21498478, PubMed:22654112). Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ (PubMed:21555462).',NULL,NULL,NULL,NULL,NULL),(16882,'UniProt Function',NULL,20041,NULL,'Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Plays a role in urate transport in the kidney (PubMed:27906618).',NULL,NULL,NULL,NULL,NULL),(16883,'UniProt Function',NULL,20042,NULL,'Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx.',NULL,NULL,NULL,NULL,NULL),(16884,'UniProt Function',NULL,20043,NULL,'Required for progression through the G1 and S phases of the cell cycle and for S phase entry. Activates transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes in conjunction with MIZF. Also positively regulates the ATM, MIZF and PRKDC promoters. Transcriptional activation may be accomplished at least in part by the recruitment of the NuA4 histone acetyltransferase (HAT) complex to target gene promoters.',NULL,NULL,NULL,NULL,NULL),(16885,'UniProt Function',NULL,20045,NULL,'Interacts specifically with a number of opioid ligands. Receptor for neuropeptides B and W, which may be involved in neuroendocrine system regulation, food intake and the organization of other signals. Has a higher affinity for neuropeptide B.',NULL,NULL,NULL,NULL,NULL),(16886,'UniProt Function',NULL,20046,NULL,'May be involved in actively transporting phosphate into cells via Na(+) cotransport.',NULL,NULL,NULL,NULL,NULL),(16887,'UniProt Function',NULL,20047,NULL,'Probable homophilic and heterophilic cell adhesion molecule involved in long term potentiation at hippocampal excitatory synapses through activation of p38MAPK. May also regulate neurite outgrowth by activating the FGFR1 signaling pathway. May play a role in synaptic plasticity (By similarity).',NULL,NULL,NULL,NULL,NULL),(16888,'UniProt Function',NULL,20048,NULL,'May act as a chaperone.',NULL,NULL,NULL,NULL,NULL),(16889,'UniProt Function',NULL,20050,NULL,'Probably involved in signal transduction, in the nervous system, via increasing cell surface localization of GRM5 and positively regulating its signaling (By similarity). Required for the spatial learning process. Acts as a negative regulator of Ca(2+)-calmodulin-dependent protein kinase 2 (CaMK2) phosphorylation. May play a role in modulating melanin-concentrating hormone-mediated functions via its interaction with MCHR1 that interferes with G protein-coupled signal transduction. May be involved in bone metabolism. May also be involved in neurite outgrowth.',NULL,NULL,NULL,NULL,NULL),(16890,'UniProt Function',NULL,20051,NULL,'Cytotoxicity-activating receptor that may contribute to the increased efficiency of activated natural killer (NK) cells to mediate tumor cell lysis.',NULL,NULL,NULL,NULL,NULL),(16891,'UniProt Function',NULL,20052,NULL,'Activates E box-dependent transcription in collaboration with TCF3/E47. May be a trans-acting factor involved in the development and maintenance of the mammalian nervous system. Transactivates the promoter of its own gene (By similarity).',NULL,NULL,NULL,NULL,NULL),(16892,'UniProt Function',NULL,20053,NULL,'Promotes matrix assembly and cell adhesiveness (By similarity). Promotes neuron migration, growth and survival as well as neurite outgrowth (PubMed:20969804). Promotes endothelial cell survival, vessel formation and plays an important role in the process of revascularization through NOS3-dependent mechanisms (PubMed:24706764).',NULL,NULL,NULL,NULL,NULL),(16893,'UniProt Function',NULL,20054,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(16894,'UniProt Function',NULL,20055,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371). Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes (PubMed:15753091).',NULL,NULL,NULL,NULL,NULL),(16895,'UniProt Function',NULL,20056,NULL,'Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397). Acts by mediating symmetric dimethylation of \'Arg-118\' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531).',NULL,NULL,NULL,NULL,NULL),(16896,'UniProt Function',NULL,20057,NULL,'Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF-alpha or GM-CSF. Promotes invasive migration through the activation of GPC6 expression and WNT5A signaling pathway.',NULL,NULL,NULL,NULL,NULL),(16897,'UniProt Function',NULL,20058,NULL,'Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage.',NULL,NULL,NULL,NULL,NULL),(16898,'UniProt Function',NULL,20060,NULL,'E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway.',NULL,NULL,NULL,NULL,NULL),(16899,'UniProt Function',NULL,20063,NULL,'The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.',NULL,NULL,NULL,NULL,NULL),(16900,'UniProt Function',NULL,20064,NULL,'Has a omega-amidase activity. The role of omega-amidase is to remove potentially toxic intermediates by converting alpha-ketoglutaramate and alpha-ketosuccinamate to biologically useful alpha-ketoglutarate and oxaloacetate, respectively. Overexpression decreases the colony-forming capacity of cultured cells by arresting cells in the G2 phase of the cell cycle.',NULL,NULL,NULL,NULL,NULL),(16901,'UniProt Function',NULL,20065,NULL,'Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.',NULL,NULL,NULL,NULL,NULL),(16902,'UniProt Function',NULL,20066,NULL,'May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells.',NULL,NULL,NULL,NULL,NULL),(16903,'UniProt Function',NULL,20069,NULL,'Interacts with a specific negative regulatory element (NRE) 5\'-AATTCCTCTGA-3\' to mediate transcriptional repression of certain NK-kappa-B responsive genes. Involved in the constitutive silencing of the interferon beta promoter, independently of the virus-induced signals, and in the inhibition of the basal and cytokine-induced iNOS promoter activity. Also involved in the regulation of IL-8 transcription.',NULL,NULL,NULL,NULL,NULL),(16904,'UniProt Function',NULL,20070,NULL,'Acts as an adapter for the XPO1/CRM1-mediated export of the 60S ribosomal subunit.',NULL,NULL,NULL,NULL,NULL),(16905,'UniProt Function',NULL,20071,NULL,'Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins.',NULL,NULL,NULL,NULL,NULL),(16906,'UniProt Function',NULL,20072,NULL,'Nicotinamide/nicotinate-nucleotide adenylyltransferase that acts as an axon maintenance factor (By similarity). Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:16118205, PubMed:17402747). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency (PubMed:16118205, PubMed:17402747). Cannot use triazofurin monophosphate (TrMP) as substrate (PubMed:16118205, PubMed:17402747). Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+) (PubMed:16118205, PubMed:17402747). For the pyrophosphorolytic activity prefers NAD(+), NADH and NaAD as substrates and degrades nicotinic acid adenine dinucleotide phosphate (NHD) less effectively (PubMed:16118205, PubMed:17402747). Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+) (PubMed:16118205, PubMed:17402747). Axon survival factor required for the maintenance of healthy axons: acts by delaying Wallerian axon degeneration, an evolutionarily conserved process that drives the loss of damaged axons (By similarity).',NULL,NULL,NULL,NULL,NULL),(16907,'UniProt Function',NULL,20073,NULL,'Probable regulator of the NF-kappa-B and type I interferon signaling pathways. May also regulate the type II interferon signaling pathway. Plays a role in homeostatic control of innate immunity and in antiviral defense mechanisms.',NULL,NULL,NULL,NULL,NULL),(16908,'UniProt Function',NULL,20074,NULL,'As the sensor component of the NLRP1 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP1, CASP1, and possibly PYCARD. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. Activation of NLRP1 inflammasome is also required for HMGB1 secretion. The active cytokines and HMGB1 stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death (PubMed:22665479, PubMed:17418785). May be activated by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, in a NOD2-dependent manner (PubMed:18511561). Contrary to its mouse ortholog, not activated by Bacillus anthracis lethal toxin (PubMed:19651869). It is unclear whether isoform 2 is involved in inflammasome formation. It is not cleaved within the FIIND domain, does not assemble into specks, nor promote IL1B release (PubMed:22665479). However, in an vitro cell-free system, it has been shown to be activated by MDP (PubMed:17349957). Binds ATP (PubMed:11113115, PubMed:15212762).',NULL,NULL,NULL,NULL,NULL),(16909,'UniProt Function',NULL,20075,NULL,'Receptor for the neuromedin-U and neuromedin-S neuropeptides.',NULL,NULL,NULL,NULL,NULL),(16910,'UniProt Function',NULL,20076,NULL,'May participate in the maintenance of segment identity in the hindbrain and pituitary development, and maturation or maintenance of the overall structure of the nervous system. May function as a regulatory subunit of ion channels.',NULL,NULL,NULL,NULL,NULL),(16911,'UniProt Function',NULL,20077,NULL,'Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:26875626). Sensitivity to glutamate and channel kinetics depend on the subunit composition (Probable). Plays a role in regulating the balance between excitatory and inhibitory activity of pyramidal neurons in the prefrontal cortex. Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity).',NULL,NULL,NULL,NULL,NULL),(16912,'UniProt Function',NULL,20078,NULL,'Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:9489750, PubMed:27616483, PubMed:26875626, PubMed:28126851). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:9489750).',NULL,NULL,NULL,NULL,NULL),(16913,'UniProt Function',NULL,20079,NULL,'Enhances caspase-9-mediated apoptosis. Induces NF-kappa-B activity via RIPK2 and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS). Forms an intracellular sensing system along with ARHGEF2 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIPK2 dependent NF-kappa-B signaling pathway activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides but also in the activation of NF-kappa-B by Shigella effector proteins IpgB2 and OspB. Recruits NLRP10 to the cell membrane following bacterial infection.',NULL,NULL,NULL,NULL,NULL),(16914,'UniProt Function',NULL,20080,NULL,'Plays a role in the regulation of lipogenesis by producing N-acetylaspartate acid (NAA), a brain-specific metabolite. NAA occurs in high concentration in brain and its hydrolysis plays a significant part in the maintenance of intact white matter. Promotes dopamine uptake by regulating TNF-alpha expression. Attenuates methamphetamine-induced inhibition of dopamine uptake.',NULL,NULL,NULL,NULL,NULL),(16915,'UniProt Function',NULL,20081,NULL,'Associates with NCBP1/CBP80 to form an alternative cap-binding complex (CBC) which plays a key role in mRNA export. NCBP3 serves as adapter protein linking the capped RNAs (m7GpppG-capped RNA) to NCBP1/CBP80. Unlike the conventional CBC with NCBP2 which binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus, the alternative CBC with NCBP3 does not bind snRNA and associates only with mRNA thereby playing a role in only mRNA export. The alternative CBC is particularly important in cellular stress situations such as virus infections and the NCBP3 activity is critical to inhibit virus growth (PubMed:26382858).',NULL,NULL,NULL,NULL,NULL),(16916,'UniProt Function',NULL,20082,NULL,'May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds three calcium ions.',NULL,NULL,NULL,NULL,NULL),(16917,'UniProt Function',NULL,20084,NULL,'Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. Required for the maturation of extramitochondrial Fe-S proteins (By similarity). Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis. Transfers electrons from NADPH to the Fe/S cluster of CIAPIN1.',NULL,NULL,NULL,NULL,NULL),(16918,'UniProt Function',NULL,20085,NULL,'Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.',NULL,NULL,NULL,NULL,NULL),(16919,'UniProt Function',NULL,20086,NULL,'Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) (PubMed:27499296). Required to stabilize NDUFAF5 (PubMed:27499296).',NULL,NULL,NULL,NULL,NULL),(16920,'UniProt Function',NULL,20087,NULL,'Neurophysin 1 specifically binds oxytocin.',NULL,NULL,NULL,NULL,NULL),(16921,'UniProt Function',NULL,20087,NULL,'Oxytocin causes contraction of the smooth muscle of the uterus and of the mammary gland. Acts by binding to oxytocin receptor (OXTR) (PubMed:18174156).',NULL,NULL,NULL,NULL,NULL),(16922,'UniProt Function',NULL,20088,NULL,'NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric p65-p50 and RelB-p50 complexes are transcriptional activators. The NF-kappa-B p50-p50 homodimer is a transcriptional repressor, but can act as a transcriptional activator when associated with BCL3. NFKB1 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p105 and generation of p50 by a cotranslational processing. The proteasome-mediated process ensures the production of both p50 and p105 and preserves their independent function, although processing of NFKB1/p105 also appears to occur post-translationally. p50 binds to the kappa-B consensus sequence 5\'-GGRNNYYCC-3\', located in the enhancer region of genes involved in immune response and acute phase reactions. In a complex with MAP3K8, NFKB1/p105 represses MAP3K8-induced MAPK signaling; active MAP3K8 is released by proteasome-dependent degradation of NFKB1/p105.',NULL,NULL,NULL,NULL,NULL),(16923,'UniProt Function',NULL,20089,NULL,'Netrins control guidance of CNS commissural axons and peripheral motor axons.',NULL,NULL,NULL,NULL,NULL),(16924,'UniProt Function',NULL,20090,NULL,'Specifically deglycosylates the denatured form of N-linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl-glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting Asn to Asp. Prefers proteins containing high-mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulum that are exported to the cytosol to be destroyed and deglycosylate them, while it has no activity toward native proteins. Deglycosylation is a prerequisite for subsequent proteasome-mediated degradation of some, but not all, misfolded glycoproteins.',NULL,NULL,NULL,NULL,NULL),(16925,'UniProt Function',NULL,20091,NULL,'Transcriptional regulator. Involved in neuronal differentiation. Activates transcription by binding to the E box (5\'-CANNTG-3\').',NULL,NULL,NULL,NULL,NULL),(16926,'UniProt Function',NULL,20093,NULL,'Acts as a regulatory protein that associates with GUCY2C and negatively modulates its heat-stable enterotoxin-mediated activation (PubMed:11950846). Stimulates SLC9A3 activity in the presence of elevated calcium ions (PubMed:19088451).',NULL,NULL,NULL,NULL,NULL),(16927,'UniProt Function',NULL,20094,NULL,'Catalyzes the hydrolysis of the amide bond in N-(4-oxoglutarate)-L-cysteinylglycine (deaminated glutathione), a metabolite repair reaction to dispose of the harmful deaminated glutathione. Plays a role in cell growth and apoptosis: loss of expression promotes cell growth, resistance to DNA damage stress and increased incidence to NMBA-induced tumors. Has tumor suppressor properties that enhances the apoptotic responsiveness in cancer cells; this effect is additive to the tumor suppressor activity of FHIT. It is also a negative regulator of primary T-cells.',NULL,NULL,NULL,NULL,NULL),(16928,'UniProt Function',NULL,20095,NULL,'Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.',NULL,NULL,NULL,NULL,NULL),(16929,'UniProt Function',NULL,20096,NULL,'RNA-binding protein implicated in numerous RNA metabolic processes. Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3\'-to-5\' direction. Mitochondrial intermembrane factor with RNA-processing exoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3\' overhang double-stranded RNA with a 3\'-to-5\' directionality in an ATP-dependent manner. Required for correct processing and polyadenylation of mitochondrial mRNAs. Plays a role as a cytoplasmic RNA import factor that mediates the translocation of small RNA components, like the 5S RNA, the RNA subunit of ribonuclease P and the mitochondrial RNA-processing (MRP) RNA, into the mitochondrial matrix. Plays a role in mitochondrial morphogenesis and respiration; regulates the expression of the electron transport chain (ETC) components at the mRNA and protein levels. In the cytoplasm, shows a 3\'-to-5\' exoribonuclease mediating mRNA degradation activity; degrades c-myc mRNA upon treatment with IFNB1/IFN-beta, resulting in a growth arrest in melanoma cells. Regulates the stability of specific mature miRNAs in melanoma cells; specifically and selectively degrades miR-221, preferentially. Plays also a role in RNA cell surveillance by cleaning up oxidized RNAs. Binds to the RNA subunit of ribonuclease P, MRP RNA and miR-221 microRNA.',NULL,NULL,NULL,NULL,NULL),(16930,'UniProt Function',NULL,20097,NULL,'Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitement to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitement to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity).',NULL,NULL,NULL,NULL,NULL),(16931,'UniProt Function',NULL,20099,NULL,'Acts either as the functional imidazoline-1 receptor (I1R) candidate or as a membrane-associated mediator of the I1R signaling. Binds numerous imidazoline ligands that induces initiation of cell-signaling cascades triggering to cell survival, growth and migration. Its activation by the agonist rilmenidine induces an increase in phosphorylation of mitogen-activated protein kinases MAPK1 and MAPK3 in rostral ventrolateral medulla (RVLM) neurons that exhibited rilmenidine-evoked hypotension (By similarity). Blocking its activation with efaroxan abolished rilmenidine-induced mitogen-activated protein kinase phosphorylation in RVLM neurons (By similarity). Acts as a modulator of Rac-regulated signal transduction pathways (By similarity). Suppresses Rac1-stimulated cell migration by interacting with PAK1 and inhibiting its kinase activity (By similarity). Also blocks Pak-independent Rac signaling by interacting with RAC1 and inhibiting Rac1-stimulated NF-kB response element and cyclin D1 promoter activation (By similarity). Inhibits also LIMK1 kinase activity by reducing LIMK1 \'Tyr-508\' phosphorylation (By similarity). Inhibits Rac-induced cell migration and invasion in breast and colon epithelial cells (By similarity). Inhibits lamellipodia formation, when overexpressed (By similarity). Plays a role in protection against apoptosis. Involved in association with IRS4 in the enhancement of insulin activation of MAPK1 and MAPK3. When overexpressed, induces a redistribution of cell surface ITGA5 integrin to intracellular endosomal structures.',NULL,NULL,NULL,NULL,NULL),(16932,'UniProt Function',NULL,20100,NULL,'Acts as a transcriptional repressor. Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development. Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter.',NULL,NULL,NULL,NULL,NULL),(16933,'UniProt Function',NULL,20101,NULL,'Transcriptional activator involved in the development of insulin-producting beta cells in the endocrine pancreas (By similarity). May also be involved in specifying diencephalic neuromeric boundaries, and in controlling the expression of genes that play a role in axonal guidance. Binds to elements within the NEUROD1 promoter (By similarity).',NULL,NULL,NULL,NULL,NULL),(16934,'UniProt Function',NULL,20102,NULL,'Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). Binds to the core DNA motif of NPPA promoter (PubMed:22849347, PubMed:26926761). It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development.',NULL,NULL,NULL,NULL,NULL),(16935,'UniProt Function',NULL,20103,NULL,'Acts as a transcriptional activator (PubMed:15649947). In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development.',NULL,NULL,NULL,NULL,NULL),(16936,'UniProt Function',NULL,20104,NULL,'Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis.',NULL,NULL,NULL,NULL,NULL),(16937,'UniProt Function',NULL,20106,NULL,'S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position (PubMed:20047967). Has also an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-ribosomes (By similarity).',NULL,NULL,NULL,NULL,NULL),(16938,'UniProt Function',NULL,20107,NULL,'Endoplasmic reticulum membrane sensor NFE2L1: Endoplasmic reticulum membrane sensor that translocates into the nucleus in response to various stresses to act as a transcription factor (PubMed:20932482, PubMed:24448410). Constitutes a precursor of the transcription factor NRF1 (By similarity). Able to detect various cellular stresses, such as cholesterol excess, oxidative stress or proteasome inhibition (PubMed:20932482). In response to stress, it is released from the endoplasmic reticulum membrane following cleavage by the protease DDI2 and translocates into the nucleus to form the transcription factor NRF1 (By similarity). Acts as a key sensor of cholesterol excess: in excess cholesterol conditions, the endoplasmic reticulum membrane form of the protein directly binds cholesterol via its CRAC motif, preventing cleavage and release of the transcription factor NRF1, thereby allowing expression of genes promoting cholesterol removal, such as CD36 (By similarity). Involved in proteasome homeostasis: in response to proteasome inhibition, it is released from the endoplasmic reticulum membrane, translocates to the nucleus and activates expression of genes encoding proteasome subunits (PubMed:20932482).',NULL,NULL,NULL,NULL,NULL),(16939,'UniProt Function',NULL,20107,NULL,'Transcription factor NRF1: CNC-type bZIP family transcription factor that translocates to the nucleus and regulates expression of target genes in response to various stresses (PubMed:8932385, PubMed:9421508). Heterodimerizes with small-Maf proteins (MAFF, MAFG or MAFK) and binds DNA motifs including the antioxidant response elements (AREs), which regulate expression of genes involved in oxidative stress response (PubMed:8932385, PubMed:9421508). Activates or represses expression of target genes, depending on the context (PubMed:8932385, PubMed:9421508). Plays a key role in cholesterol homeostasis by acting as a sensor of cholesterol excess: in low cholesterol conditions, translocates into the nucleus and represses expression of genes involved in defense against cholesterol excess, such as CD36 (By similarity). In excess cholesterol conditions, the endoplasmic reticulum membrane form of the protein directly binds cholesterol via its CRAC motif, preventing cleavage and release of the transcription factor NRF1, thereby allowing expression of genes promoting cholesterol removal (By similarity). Critical for redox balance in response to oxidative stress: acts by binding the AREs motifs on promoters and mediating activation of oxidative stress response genes, such as GCLC, GCLM, GSS, MT1 and MT2 (By similarity). Plays an essential role during fetal liver hematopoiesis: probably has a protective function against oxidative stress and is involved in lipid homeostasis in the liver (By similarity). Involved in proteasome homeostasis: in response to proteasome inhibition, mediates the \'bounce-back\' of proteasome subunits by translocating into the nucleus and activating expression of genes encoding proteasome subunits (PubMed:20932482). Also involved in regulating glucose flux (By similarity). Together with CEBPB; represses expression of DSPP during odontoblast differentiation (PubMed:15308669). In response to ascorbic acid induction, activates expression of SP7/Osterix in osteoblasts.',NULL,NULL,NULL,NULL,NULL),(16940,'UniProt Function',NULL,20108,NULL,'Promotes CCP110 ubiquitination and proteasome-dependent degradation. By counteracting accumulation of CP110, maintains normal centriolar homeostasis and preventing formation of ectopic microtubular organizing centers.',NULL,NULL,NULL,NULL,NULL),(16941,'UniProt Function',NULL,20109,NULL,'Cell adhesion glycoprotein which is widely distributed in basement membranes. Binds to collagens I and IV, to perlecan and to laminin 1. Does not bind fibulins. It probably has a role in cell-extracellular matrix interactions.',NULL,NULL,NULL,NULL,NULL),(16942,'UniProt Function',NULL,20110,NULL,'Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells (PubMed:15190203, PubMed:23386061). May also act as a centrosome maturation factor (PubMed:11956314). May play a role in microtubule nucleation, by recruiting the gamma-tubulin ring complex to the centrosome (PubMed:15190203). Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules (PubMed:15190203). Required for centriole organization and microtubule anchoring at the mother centriole (PubMed:23386061).',NULL,NULL,NULL,NULL,NULL),(16943,'UniProt Function',NULL,20111,NULL,'Catalyzes the oxidation of either pyridoxine 5\'-phosphate (PNP) or pyridoxamine 5\'-phosphate (PMP) into pyridoxal 5\'-phosphate (PLP).',NULL,NULL,NULL,NULL,NULL),(16944,'UniProt Function',NULL,20112,NULL,'Transcription factor which binds to specific A/T-rich DNA sequences in the promoter regions of a number of genes. Involved in the development of insulin-producing beta cells in the islets of Langerhans at the secondary transition (By similarity). Together with NKX2-2 and IRX3 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class II proteins of neuronal progenitor factors, which are induced by SHH signals (By similarity).',NULL,NULL,NULL,NULL,NULL),(16945,'UniProt Function',NULL,20114,NULL,'Cell autonomous antagonist of the canonical Wnt signaling pathway. May activate a second Wnt signaling pathway that controls planar cell polarity.',NULL,NULL,NULL,NULL,NULL),(16946,'UniProt Function',NULL,20115,NULL,'Transmembrane scaffolding protein involved in cell-cell interactions via its interactions with neurexin family members. Mediates cell-cell interactions both in neurons and in other types of cells, such as Langerhans beta cells. Plays a role in synapse function and synaptic signal transmission, especially via gamma-aminobutyric acid receptors (GABA(A) receptors). Functions by recruiting and clustering synaptic proteins. Promotes clustering of postsynaptic GABRG2 and GPHN. Promotes clustering of postsynaptic LHFPL4 (By similarity). Modulates signaling by inhibitory synapses, and thereby plays a role in controlling the ratio of signaling by excitatory and inhibitory synapses and information processing. Required for normal signal amplitude from inhibitory synapses, but is not essential for normal signal frequency. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. Mediates cell-cell interactions between Langerhans beta cells and modulates insulin secretion (By similarity).',NULL,NULL,NULL,NULL,NULL),(16947,'UniProt Function',NULL,20116,NULL,'Putative neuronal cell surface protein involved in cell-cell-interactions.',NULL,NULL,NULL,NULL,NULL),(16948,'UniProt Function',NULL,20117,NULL,'Stimulates smooth muscle contraction in a manner similar to that of bombesin.',NULL,NULL,NULL,NULL,NULL),(16949,'UniProt Function',NULL,20118,NULL,'Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration.',NULL,NULL,NULL,NULL,NULL),(16950,'UniProt Function',NULL,20119,NULL,'Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (By similarity). Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain (By similarity). Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain (PubMed:26005868). Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons (By similarity). Does not transport docosahexaenoic acid in unesterified fatty acid (By similarity). Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport (By similarity). Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation (PubMed:21677192). In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion (PubMed:18988732, PubMed:23177091).',NULL,NULL,NULL,NULL,NULL),(16951,'UniProt Function',NULL,20120,NULL,'Redox sensor protein. Undergoes restructuring and subcellular redistribution in response to changes in intracellular NADPH/NADP(+) levels. At low NADPH concentrations the protein is found mainly as a monomer, and binds argininosuccinate synthase (ASS1), the enzyme involved in nitric oxide synthesis. Association with ASS1 impairs its activity and reduces the production of nitric oxide, which subsecuently prevents apoptosis. Under normal NADPH concentrations, the protein is found as a dimer and hides the binding site for ASS1. The homodimer binds one molecule of NADPH. Has higher affinity for NADPH than for NADP(+). Binding to NADPH is necessary to form a stable dimer.',NULL,NULL,NULL,NULL,NULL),(16952,'UniProt Function',NULL,20121,NULL,'Essential for mesoderm formation and axial patterning during embryonic development.',NULL,NULL,NULL,NULL,NULL),(16953,'UniProt Function',NULL,20122,NULL,'GTPase that associates with pre-60S ribosomal subunits in the nucleolus and is required for their nuclear export and maturation (By similarity). May promote cell proliferation possibly by increasing p53/TP53 protein levels, and consequently those of its downstream product CDKN1A/p21, and decreasing RPL23A protein levels (PubMed:26203195).',NULL,NULL,NULL,NULL,NULL),(16954,'UniProt Function',NULL,20123,NULL,'Plays a role in targeting PPP1CA to the nucleolus.',NULL,NULL,NULL,NULL,NULL),(16955,'UniProt Function',NULL,20124,NULL,'Polynucleotide 5\'-kinase involved in rRNA processing. The kinase activity is required for the processing of the 32S precursor into 5.8S and 28S rRNAs, more specifically for the generation of the major 5.8S(S) form. In vitro, has both DNA and RNA 5\'-kinase activities. Probably binds RNA.',NULL,NULL,NULL,NULL,NULL),(16956,'UniProt Function',NULL,20125,NULL,'Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its interaction with GDF5 and, probably, GDF6 (PubMed:21976273, PubMed:26643732).',NULL,NULL,NULL,NULL,NULL),(16957,'UniProt Function',NULL,20127,NULL,'May possess a function in tumorigenesis.',NULL,NULL,NULL,NULL,NULL),(16958,'UniProt Function',NULL,20128,NULL,'Plays a key role in the regulation of embryonic neurogenesis (By similarity). Promotes the proliferation of neural progenitors and inhibits neuronal differentiation during cortical development (By similarity). Regulates neurogenesis via the modulation of RASSF10; regulates RASSF10 expression by promoting SETD1A-mediated H3K4 methylation at the RASSF10 promoter (By similarity).',NULL,NULL,NULL,NULL,NULL),(16959,'UniProt Function',NULL,20129,NULL,'May be involved in spermatogenesis.',NULL,NULL,NULL,NULL,NULL),(16960,'UniProt Function',NULL,20130,NULL,'Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets.',NULL,NULL,NULL,NULL,NULL),(16961,'UniProt Function',NULL,20130,NULL,'Isoform eNOS13C: Lacks eNOS activity, dominant-negative form that may down-regulate eNOS activity by forming heterodimers with isoform 1.',NULL,NULL,NULL,NULL,NULL),(16962,'UniProt Function',NULL,20131,NULL,'This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.',NULL,NULL,NULL,NULL,NULL),(16963,'UniProt Function',NULL,20131,NULL,'(Microbial infection) Acts as a receptor for rabies virus.',NULL,NULL,NULL,NULL,NULL),(16964,'UniProt Function',NULL,20133,NULL,'Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:9315664, PubMed:12351790, PubMed:14654001, PubMed:14699129, PubMed:15062103, PubMed:15235793, PubMed:15239953, PubMed:15548592, PubMed:16732327). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:15548592). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020). Plays a role in chromosome congression and is essential for the end-on attachment of the kinetochores to spindle microtubules (PubMed:25743205, PubMed:23891108).',NULL,NULL,NULL,NULL,NULL),(16965,'UniProt Function',NULL,20134,NULL,'Hydrolyzes 2-acetyl monoalkylglycerol ether, the penultimate precursor of the pathway for de novo synthesis of platelet-activating factor. May be responsible for cholesterol ester hydrolysis in macrophages, thereby contributing to the development of atherosclerosis. Also involved in organ detoxification by hydrolyzing exogenous organophosphorus compounds. May contribute to cancer pathogenesis by promoting tumor cell migration.',NULL,NULL,NULL,NULL,NULL),(16966,'UniProt Function',NULL,20135,NULL,'NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).',NULL,NULL,NULL,NULL,NULL),(16967,'UniProt Function',NULL,20136,NULL,'Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin, insulin and AGRP.',NULL,NULL,NULL,NULL,NULL),(16968,'UniProt Function',NULL,20137,NULL,'In T-helper 2 (Th2) cells, regulates the magnitude of NFAT-driven transcription of a specific subset of cytokine genes, including IL3, IL4, IL5 and IL13, but not IL2. Recruits PRMT1 to the IL4 promoter; this leads to enhancement of histone H4 \'Arg-3\'-methylation and facilitates subsequent histone acetylation at the IL4 locus, thus promotes robust cytokine expression (By similarity). Down-regulates formation of poly-SUMO chains by UBE2I/UBC9 (By similarity).',NULL,NULL,NULL,NULL,NULL),(16969,'UniProt Function',NULL,20138,NULL,'May play an important role in neural, kidney and vascular development. Promotes neurite elongation from olfactory bulb explants.',NULL,NULL,NULL,NULL,NULL),(16970,'UniProt Function',NULL,20139,NULL,'Component of the NF-E2 complex essential for regulating erythroid and megakaryocytic maturation and differentiation. Binds to the hypersensitive site 2 (HS2) of the beta-globin control region (LCR). This subunit (NFE2) recognizes the TCAT/C sequence of the AP-1-like core palindrome present in a number of erythroid and megakaryocytic gene promoters. Requires MAFK or other small MAF proteins for binding to the NF-E2 motif. May play a role in all aspects of hemoglobin production from globin and heme synthesis to procurement of iron.',NULL,NULL,NULL,NULL,NULL),(16971,'UniProt Function',NULL,20140,NULL,'Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity).',NULL,NULL,NULL,NULL,NULL),(16972,'UniProt Function',NULL,20142,NULL,'Homophilic cell adhesion molecule that promotes axonal growth. May play a role in nerve regeneration and in the formation and function of other tissues. Cell adhesion requires divalent cations.',NULL,NULL,NULL,NULL,NULL),(16973,'UniProt Function',NULL,20143,NULL,'Homophilic cell adhesion molecule that promotes axonal growth. May play a role in nerve regeneration and in the formation and function of other tissues.',NULL,NULL,NULL,NULL,NULL),(16974,'UniProt Function',NULL,20144,NULL,'Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine (\"psi\") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.',NULL,NULL,NULL,NULL,NULL),(16975,'UniProt Function',NULL,20145,NULL,'Function as an activating and costimulatory receptor involved in immunosurveillance upon binding to various cellular stress-inducible ligands displayed at the surface of autologous tumor cells and virus-infected cells. Provides both stimulatory and costimulatory innate immune responses on activated killer (NK) cells, leading to cytotoxic activity. Acts as a costimulatory receptor for T-cell receptor (TCR) in CD8(+) T-cell-mediated adaptive immune responses by amplifying T-cell activation. Stimulates perforin-mediated elimination of ligand-expressing tumor cells. Signaling involves calcium influx, culminating in the expression of TNF-alpha. Participates in NK cell-mediated bone marrow graft rejection. May play a regulatory role in differentiation and survival of NK cells. Binds to ligands belonging to various subfamilies of MHC class I-related glycoproteins including MICA, MICB, RAET1E, RAET1G, RAET1L/ULBP6, ULBP1, ULBP2, ULBP3 (ULBP2>ULBP1>ULBP3) and ULBP4.',NULL,NULL,NULL,NULL,NULL),(16976,'UniProt Function',NULL,20147,NULL,'Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis (PubMed:15107016). The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria (By similarity).',NULL,NULL,NULL,NULL,NULL),(16977,'UniProt Function',NULL,20148,NULL,'Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Can also use GTP and ITP as nucleotide donors. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, can use NAD(+), NADH, NaAD, nicotinic acid adenine dinucleotide phosphate (NHD), nicotinamide guanine dinucleotide (NGD) as substrates. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+). Protects against axonal degeneration following injury.',NULL,NULL,NULL,NULL,NULL),(16978,'UniProt Function',NULL,20149,NULL,'Catalyzes the N-methylation of nicotinamide and other pyridines to form pyridinium ions. This activity is important for biotransformation of many drugs and xenobiotic compounds.',NULL,NULL,NULL,NULL,NULL),(16979,'UniProt Function',NULL,20151,NULL,'May modulate neuronal adhesion and neurite growth during development by binding to neural cell adhesion molecules (NG-CAM and N-CAM). Chondroitin sulfate proteoglycan; binds to hyaluronic acid.',NULL,NULL,NULL,NULL,NULL),(16980,'UniProt Function',NULL,20152,NULL,'Component of the cap-binding complex (CBC), which binds co-transcriptionally to the 5\' cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus via its interaction with ALYREF/THOC4/ALY, leading to the recruitment of the mRNA export machinery to the 5\' end of mRNA and to mRNA export in a 5\' to 3\' direction through the nuclear pore. The CBC complex is also involved in mediating U snRNA and intronless mRNAs export from the nucleus. The CBC complex is essential for a pioneer round of mRNA translation, before steady state translation when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. The pioneer round of mRNA translation mediated by the CBC complex plays a central role in nonsense-mediated mRNA decay (NMD), NMD only taking place in mRNAs bound to the CBC complex, but not on eIF4E-bound mRNAs. The CBC complex enhances NMD in mRNAs containing at least one exon-junction complex (EJC) via its interaction with UPF1, promoting the interaction between UPF1 and UPF2. The CBC complex is also involved in \'failsafe\' NMD, which is independent of the EJC complex, while it does not participate in Staufen-mediated mRNA decay (SMD). During cell proliferation, the CBC complex is also involved in microRNAs (miRNAs) biogenesis via its interaction with SRRT/ARS2, thereby being required for miRNA-mediated RNA interference. The CBC complex also acts as a negative regulator of PARN, thereby acting as an inhibitor of mRNA deadenylation. In the CBC complex, NCBP2/CBP20 recognizes and binds capped RNAs (m7GpppG-capped RNA) but requires NCBP1/CBP80 to stabilize the movement of its N-terminal loop and lock the CBC into a high affinity cap-binding state with the cap structure. The conventional cap-binding complex with NCBP2 binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus (PubMed:26382858).',NULL,NULL,NULL,NULL,NULL),(16981,'UniProt Function',NULL,20153,NULL,'Enhances the androgen receptor transcriptional activity in prostate cancer cells. Ligand-independent coactivator of the peroxisome proliferator-activated receptor (PPAR) gamma.',NULL,NULL,NULL,NULL,NULL),(16982,'UniProt Function',NULL,20154,NULL,'Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repression of the genetic program for neuronal differentiation; prevents the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Induces transcription of ZEB1, which in turn represses neuronal differentiation by down-regulating REST expression. Plays a role in the establishment and maturation of thalamocortical connections; involved in the segregation of thalamic afferents into distinct barrel domains within layer VI of the somatosensory cortex. Involved in the development of the cerebellar and hippocampal granular neurons, neurons in the basolateral nucleus of amygdala and the hypothalamic-pituitary axis. Associates with chromatin to the DPYSL3 E box-containing promoter (By similarity).',NULL,NULL,NULL,NULL,NULL),(16983,'UniProt Function',NULL,20156,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(16984,'UniProt Function',NULL,20157,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(16985,'UniProt Function',NULL,20158,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(16986,'UniProt Function',NULL,20159,NULL,'Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5\'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN).',NULL,NULL,NULL,NULL,NULL),(16987,'UniProt Function',NULL,20160,NULL,'Multi-functional cell surface receptor regulating cell adhesion in many diverse developmental processes, including neural tube and mammary gland formation, myogenesis and angiogenesis. Receptor for members of the BMP, netrin, and repulsive guidance molecule (RGM) families. Netrin-Neogenin interactions result in a chemoattractive axon guidance response and cell-cell adhesion, the interaction between NEO1/Neogenin and RGMa and RGMb induces a chemorepulsive response.',NULL,NULL,NULL,NULL,NULL),(16988,'UniProt Function',NULL,20161,NULL,'Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity.',NULL,NULL,NULL,NULL,NULL),(16989,'UniProt Function',NULL,20162,NULL,'Heme-binding protein which promotes neuronal but not astrocyte differentiation.',NULL,NULL,NULL,NULL,NULL),(16990,'UniProt Function',NULL,20163,NULL,'Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.',NULL,NULL,NULL,NULL,NULL),(16991,'UniProt Function',NULL,20164,NULL,'May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Overexpression promotes the development of heart hypertrophy. Contributes to the regulation of dendritic spine morphogenesis in neurons. May restrain postsynaptic growth of excitatory synapses (By similarity).',NULL,NULL,NULL,NULL,NULL),(16992,'UniProt Function',NULL,20165,NULL,'Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle (PubMed:25537362). Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation (By similarity).',NULL,NULL,NULL,NULL,NULL),(16993,'UniProt Function',NULL,20166,NULL,'Transcription factor that plays a key role in neuronal differentiation by specifically repressing expression of non-neuronal genes during neuron differentiation. In contrast to other transcription repressors that inhibit specific lineages, mediates repression of multiple differentiation programs. Also represses expression of negative regulators of neurogenesis, such as members of the Notch signaling pathway, including HES1. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Directly binds the 5\'-AAGTT-3\' core motif present on the promoter of target genes and represses transcription by recruiting a multiprotein complex containing SIN3B. The 5\'-AAGTT-3\' core motif is absent from the promoter of neural genes.',NULL,NULL,NULL,NULL,NULL),(16994,'UniProt Function',NULL,20167,NULL,'May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis.',NULL,NULL,NULL,NULL,NULL),(16995,'UniProt Function',NULL,20168,NULL,'Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. Promotes cell migration through activation of PTK2 and the downstream phosphatidylinositol 3-kinase signaling. Plays a role in bone formation and promotes osteoblast differentiation in a dose-dependent manner through mitogen-activated protein kinase signaling. Mediates myelination in the peripheral nervous system through ERBB2/ERBB3 signaling. Plays a role as a regulator of muscle hypertrophy through the components of dystrophin-associated protein complex. Involved in positive regulation of mitochondrial depolarization. Plays a role in neurite outgrowth. May participate in the obstruction of fluid outflow in the trabecular meshwork.',NULL,NULL,NULL,NULL,NULL),(16996,'UniProt Function',NULL,20169,NULL,'Displays alpha (N-terminal) acetyltransferase activity. Proposed alternative catalytic subunit of the N-terminal acetyltransferase A (NatA) complex.',NULL,NULL,NULL,NULL,NULL),(16997,'UniProt Function',NULL,20170,NULL,'Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity.',NULL,NULL,NULL,NULL,NULL),(16998,'UniProt Function',NULL,20171,NULL,'Induces apoptosis.',NULL,NULL,NULL,NULL,NULL),(16999,'UniProt Function',NULL,20172,NULL,'Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPS1) activity.',NULL,NULL,NULL,NULL,NULL),(17000,'UniProt Function',NULL,20174,NULL,'May play important roles in selective fasciculation and zone-to-zone projection of the primary olfactory axons.',NULL,NULL,NULL,NULL,NULL),(17001,'UniProt Function',NULL,20175,NULL,'Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin (By similarity). Stimulates PI4KB kinase activity (By similarity). Involved in long-term synaptic plasticity through its interaction with PICK1 (By similarity). May also play a role in neuron differentiation through inhibition of the activity of N-type voltage-gated calcium channel (By similarity).',NULL,NULL,NULL,NULL,NULL),(17002,'UniProt Function',NULL,20176,NULL,'May be required for activation of the latent NADPH oxidase (necessary for superoxide production).',NULL,NULL,NULL,NULL,NULL),(17003,'UniProt Function',NULL,20177,NULL,'Required for normal vault structure. Vaults are multi-subunit structures that may act as scaffolds for proteins involved in signal transduction. Vaults may also play a role in nucleo-cytoplasmic transport. Down-regulates IFNG-mediated STAT1 signaling and subsequent activation of JAK. Down-regulates SRC activity and signaling through MAP kinases.',NULL,NULL,NULL,NULL,NULL),(17004,'UniProt Function',NULL,20178,NULL,'Performs the first committed step in the biosynthesis of isoprenes.',NULL,NULL,NULL,NULL,NULL),(17005,'UniProt Function',NULL,20179,NULL,'Interferon-induced dynamin-like GTPase with antiviral activity against a wide range of RNA viruses and some DNA viruses. Its target viruses include negative-stranded RNA viruses and HBV through binding and inactivation of their ribonucleocapsid. May also antagonize reoviridae and asfarviridae replication. Inhibits thogoto virus (THOV) replication by preventing the nuclear import of viral nucleocapsids. Inhibits La Crosse virus (LACV) replication by sequestering viral nucleoprotein in perinuclear complexes, preventing genome amplification, budding, and egress. Inhibits influenza A virus (IAV) replication by decreasing or delaying NP synthesis and by blocking endocytic traffic of incoming virus particles. Enhances ER stress-mediated cell death after influenza virus infection. May regulate the calcium channel activity of TRPCs.',NULL,NULL,NULL,NULL,NULL),(17006,'UniProt Function',NULL,20180,NULL,'Transcriptional repressor of the myelin basic protein gene (MBP). Binds to the proximal MB1 element 5\'-TTGTCC-3\' of the MBP promoter. Its binding to MB1 and function are inhibited by PURA (By similarity).',NULL,NULL,NULL,NULL,NULL),(17007,'UniProt Function',NULL,20181,NULL,'Muscle contraction.',NULL,NULL,NULL,NULL,NULL),(17008,'UniProt Function',NULL,20182,NULL,'Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5\'-CAC[GA]TG-3\'. Activates the transcription of growth-related genes. Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis (PubMed:24940000).',NULL,NULL,NULL,NULL,NULL),(17009,'UniProt Function',NULL,20185,NULL,'Regulatory light chain of myosin. Does not bind calcium.',NULL,NULL,NULL,NULL,NULL),(17010,'UniProt Function',NULL,20186,NULL,'Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation.',NULL,NULL,NULL,NULL,NULL),(17011,'UniProt Function',NULL,20187,NULL,'Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity).',NULL,NULL,NULL,NULL,NULL),(17012,'UniProt Function',NULL,20188,NULL,'Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion.',NULL,NULL,NULL,NULL,NULL),(17013,'UniProt Function',NULL,20189,NULL,'Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. MYO10 binds to actin filaments and actin bundles and functions as plus end-directed motor. The tail domain binds to membranous compartments containing phosphatidylinositol 3,4,5-trisphosphate or integrins, and mediates cargo transport along actin filaments. Regulates cell shape, cell spreading and cell adhesion. Stimulates the formation and elongation of filopodia. May play a role in neurite outgrowth and axon guidance. In hippocampal neurons it induces the formation of dendritic filopodia by trafficking the actin-remodeling protein VASP to the tips of filopodia, where it promotes actin elongation. Plays a role in formation of the podosome belt in osteoclasts.',NULL,NULL,NULL,NULL,NULL),(17014,'UniProt Function',NULL,20189,NULL,'Isoform Headless: Functions as a dominant-negative regulator of isoform 1, suppressing its filopodia-inducing and axon outgrowth-promoting activities. In hippocampal neurons, it increases VASP retention in spine heads to induce spine formation and spine head expansion (By similarity).',NULL,NULL,NULL,NULL,NULL),(17015,'UniProt Function',NULL,20190,NULL,'Putative glycosidase. Promotes myogenesis by activating AKT signaling through the maturation and secretion of IGF2.',NULL,NULL,NULL,NULL,NULL),(17016,'UniProt Function',NULL,20191,NULL,'Cardiac- and muscle-specific transcription factor. May act to regulate the expression of genes involved in the development of myotubes. Plays a critical role in ventricular cardiomyocyte expansion and regulates postnatal skeletal muscle growth and regeneration. Involved in the organized assembly of thick and thin filaments of myofibril sarcomeres (By similarity).',NULL,NULL,NULL,NULL,NULL),(17017,'UniProt Function',NULL,20193,NULL,'Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Also has weak NADH kinase activity in vitro; however NADH kinase activity is much weaker than the NAD(+) kinase activity and may not be relevant in vivo.',NULL,NULL,NULL,NULL,NULL),(17018,'UniProt Function',NULL,20194,NULL,'Involved in inflammation.',NULL,NULL,NULL,NULL,NULL),(17019,'UniProt Function',NULL,20195,NULL,'Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Regulates the resting membrane potential and controls neuronal excitability (PubMed:17448995). Neuropeptides such as neurotensin and substance P (SP) stimulate the firing of action potentials by activating NALCN through a SRC family kinases-dependent pathway. In addition to its baseline activity, NALCN activity is enhanced/modulated by several GPCRs. Required for normal respiratory rhythm and neonatal survival. Involved in systemic osmoregulation by controlling the serum sodium concentration. NALCN is partly responsible for the substance P-induced depolarization and regulation of the intestinal pace-making activity in the interstitial cells of Cajal. Plays a critical role in both maintenance of spontaneous firing of substantia nigra pars reticulata (SNr) neurons and physiological modulation of SNr neuron excitability (By similarity).',NULL,NULL,NULL,NULL,NULL),(17020,'UniProt Function',NULL,20196,NULL,'Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex.',NULL,NULL,NULL,NULL,NULL),(17021,'UniProt Function',NULL,20198,NULL,'Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles (By similarity).',NULL,NULL,NULL,NULL,NULL),(17022,'UniProt Function',NULL,20199,NULL,'Kinase that phosphorylates MYL2 in vitro. Promotes sarcomere formation in cardiomyocytes and increases cardiomyocyte contractility (By similarity).',NULL,NULL,NULL,NULL,NULL),(17023,'UniProt Function',NULL,20200,NULL,'Involved in directing the movement of organelles along actin filaments.',NULL,NULL,NULL,NULL,NULL),(17024,'UniProt Function',NULL,20201,NULL,'May play a role in lipid transport protein in Schwann cells. May bind cholesterol.',NULL,NULL,NULL,NULL,NULL),(17025,'UniProt Function',NULL,20202,NULL,'N-alpha-acetyltransferase that specifically mediates the acetylation of the N-terminal residues of histones H4 and H2A (PubMed:21935442, PubMed:25619998). In contrast to other N-alpha-acetyltransferase, has a very specific selectivity for histones H4 and H2A N-terminus and specifically recognizes the \'Ser-Gly-Arg-Gly sequence\' (PubMed:21935442, PubMed:25619998). Acts as a negative regulator of apoptosis (PubMed:26666750). May play a role in hepatic lipid metabolism (By similarity).',NULL,NULL,NULL,NULL,NULL),(17026,'UniProt Function',NULL,20203,NULL,'Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites). May act as a specific coactivator for JUN, binding to DNA and stabilizing the interaction of JUN homodimers with target gene promoters.',NULL,NULL,NULL,NULL,NULL),(17027,'UniProt Function',NULL,20204,NULL,'Degrades bioactive fatty acid amides to their corresponding acids, with the following preference: N-palmitoylethanolamine > N-myristoylethanolamine > N-lauroylethanolamine = N-stearoylethanolamine > N-arachidonoylethanolamine > N-oleoylethanolamine. Also exhibits weak hydrolytic activity against the ceramides N-lauroylsphingosine and N-palmitoylsphingosine.',NULL,NULL,NULL,NULL,NULL),(17028,'UniProt Function',NULL,20205,NULL,'Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence.',NULL,NULL,NULL,NULL,NULL),(17029,'UniProt Function',NULL,20206,NULL,'Hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6-phosphate (GlcNGc-6-P) in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded.',NULL,NULL,NULL,NULL,NULL),(17030,'UniProt Function',NULL,20207,NULL,'Probable transcriptional regulator.',NULL,NULL,NULL,NULL,NULL),(17031,'UniProt Function',NULL,20208,NULL,'Catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, an intermediate in the biosynthesis of NAD. It is the rate limiting component in the mammalian NAD biosynthesis pathway. The secreted form behaves both as a cytokine with immunomodulating properties and an adipokine with anti-diabetic properties, it has no enzymatic activity, partly because of lack of activation by ATP, which has a low level in extracellular space and plasma. Plays a role in the modulation of circadian clock function. NAMPT-dependent oscillatory production of NAD regulates oscillation of clock target gene expression by releasing the core clock component: CLOCK-ARNTL/BMAL1 heterodimer from NAD-dependent SIRT1-mediated suppression (By similarity).',NULL,NULL,NULL,NULL,NULL),(17032,'UniProt Function',NULL,20209,NULL,'Inhibits CASP1/caspase-1-dependent IL1B secretion.',NULL,NULL,NULL,NULL,NULL),(17033,'UniProt Function',NULL,20211,NULL,'Acetylates the free alpha-amino group of cysteine S-conjugates to form mercapturic acids (PubMed:20392701). This is the final step in a major route for detoxification of a wide variety of reactive electrophiles which starts with their incorporation into glutathione S-conjugates. The glutathione S-conjugates are then further processed into cysteine S-conjugates and finally mercapturic acids which are water soluble and can be readily excreted in urine or bile. Alternatively, may have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6-acetylation of various proteins. Thereby, may regulate apoptosis through the acetylation and the regulation of the expression of PROM1 (PubMed:24556617). May also regulate amyloid beta-peptide secretion through acetylation of BACE1 and the regulation of its expression in neurons (PubMed:19011241).',NULL,NULL,NULL,NULL,NULL),(17034,'UniProt Function',NULL,20212,NULL,'Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may be important for the assembly and/or activation of the NADPH-oxidase complex.',NULL,NULL,NULL,NULL,NULL),(17035,'UniProt Function',NULL,20214,NULL,'Involved in the catabolism of quinolinic acid (QA).',NULL,NULL,NULL,NULL,NULL),(17036,'UniProt Function',NULL,20215,NULL,'May act as a translational repressor which regulates translation of specific mRNAs by forming a complex with PUM2 that associates with the 3\'-UTR of mRNA targets. Capable of interfering with the proadhesive and anti-invasive functions of E-cadherin. Up-regulates the production of MMP14 to promote tumor cell invasion.',NULL,NULL,NULL,NULL,NULL),(17037,'UniProt Function',NULL,20216,NULL,'Transcription regulator involved in inner cell mass and embryonic stem (ES) cells proliferation and self-renewal. Imposes pluripotency on ES cells and prevents their differentiation towards extraembryonic endoderm and trophectoderm lineages. Blocks bone morphogenetic protein-induced mesoderm differentiation of ES cells by physically interacting with SMAD1 and interfering with the recruitment of coactivators to the active SMAD transcriptional complexes. Acts as a transcriptional activator or repressor. Binds optimally to the DNA consensus sequence 5\'-TAAT[GT][GT]-3\' or 5\'-[CG][GA][CG]C[GC]ATTAN[GC]-3\'. Binds to the POU5F1/OCT4 promoter (PubMed:25825768). Able to autorepress its expression in differentiating (ES) cells: binds to its own promoter following interaction with ZNF281/ZFP281, leading to recruitment of the NuRD complex and subsequent repression of expression. When overexpressed, promotes cells to enter into S phase and proliferation.',NULL,NULL,NULL,NULL,NULL),(17038,'UniProt Function',NULL,20217,NULL,'Hydrolyzes N-acyl-phosphatidylethanolamines (NAPEs) to produce N-acylethanolamines (NAEs) and phosphatidic acid (PubMed:25684574, PubMed:14634025, PubMed:16527816). Responsible for the generation of these bioactive fatty acid ethanolamides (FAEs), including anandamide (N-arachidonoylethanolamine), the ligand of cannabinoid and vanilloid receptors (PubMed:14634025). As a regulator of lipid metabolism in the adipose tissue, mediates the crosstalk between adipocytes, gut microbiota and immune cells to control body temperature and weight. In particular, regulates energy homeostasis by promoting cold-induced brown or beige adipocyte differentiation program to generate heat from fatty acids and glucose (By similarity).',NULL,NULL,NULL,NULL,NULL),(17039,'UniProt Function',NULL,20218,NULL,'NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).',NULL,NULL,NULL,NULL,NULL),(17040,'UniProt Function',NULL,20221,NULL,'Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the division plane yields one proliferative neuronal progenitor and a post-mitotic neuron. A premature shift towards a neuronal fate within the progenitor population may result in an overall reduction in the final number of neurons and an increase in the number of neurons in the deeper layers of the cortex.',NULL,NULL,NULL,NULL,NULL),(17041,'UniProt Function',NULL,20222,NULL,'Transcriptional corepressor (PubMed:20812024). Mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. Isoform 1 and isoform 4 have different affinities for different nuclear receptors. Involved in the regulation BCL6-dependent of the germinal center (GC) reactions, mainly through the control of the GC B-cells proliferation and survival. Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024).',NULL,NULL,NULL,NULL,NULL),(17042,'UniProt Function',NULL,20223,NULL,'Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Through the catalyzed exchange of gamma-phosphate between di- and triphosphonucleosides participates in regulation of intracellular nucleotide homeostasis (PubMed:10799505). Binds to anionic phospholipids, predominantly to cardiolipin; the binding inhibits its phosphotransfer activity (PubMed:18635542, PubMed:23150663). Acts as mitochondria-specific NDK; its association with cardiolipin-containing mitochondrial inner membrane is coupled to respiration suggesting that ADP locally regenerated in the mitochondrion innermembrane space by its activity is directly taken up via ANT ADP/ATP translocase into the matrix space to stimulate respiratory ATP regeneration (PubMed:18635542). Proposed to increase GTP-loading on dynamin-related GTPase OPA1 in mitochondria (PubMed:24970086). In vitro can induce liposome cross-linking suggesting that it can cross-link inner and outer membranes to form contact sites, and promotes intermembrane migration of anionic phosphoplipids. Promotes the redistribution of cardiolipin between the mitochondrial inner membrane and outer membrane which is implicated in pro-apoptotic signaling (PubMed:18635542, PubMed:17028143, PubMed:23150663).',NULL,NULL,NULL,NULL,NULL),(17043,'UniProt Function',NULL,20224,NULL,'Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate.',NULL,NULL,NULL,NULL,NULL),(17044,'UniProt Function',NULL,20225,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(17045,'UniProt Function',NULL,20226,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(17046,'UniProt Function',NULL,20227,NULL,'Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities.',NULL,NULL,NULL,NULL,NULL),(17047,'UniProt Function',NULL,20228,NULL,'Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.',NULL,NULL,NULL,NULL,NULL),(17048,'UniProt Function',NULL,20229,NULL,'Catalytic subunit of the N-terminal acetyltransferase C (NatC) complex. Catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Leu-Ala and Met-Leu-Gly. Necessary for the lysosomal localization and function of ARL8B sugeesting that ARL8B is a NatC substrate.',NULL,NULL,NULL,NULL,NULL),(17049,'UniProt Function',NULL,20230,NULL,'Regulates myosin phosphatase activity. Augments Ca(2+) sensitivity of the contractile apparatus.',NULL,NULL,NULL,NULL,NULL),(17050,'UniProt Function',NULL,20231,NULL,'Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2.',NULL,NULL,NULL,NULL,NULL),(17051,'UniProt Function',NULL,20232,NULL,'Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues. Involved in regulation of apoptosis and proliferation of smooth muscle cells.',NULL,NULL,NULL,NULL,NULL),(17052,'UniProt Function',NULL,20233,NULL,'Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.',NULL,NULL,NULL,NULL,NULL),(17053,'UniProt Function',NULL,20234,NULL,'Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases.',NULL,NULL,NULL,NULL,NULL),(17054,'UniProt Function',NULL,20235,NULL,'Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. Also has ManNAc kinase activity.',NULL,NULL,NULL,NULL,NULL),(17055,'UniProt Function',NULL,20236,NULL,'Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47. May play a role in regulating antigen-dependent B-cell differentiation.',NULL,NULL,NULL,NULL,NULL),(17056,'UniProt Function',NULL,20237,NULL,'H(+)-myo-inositol cotransporter. Can also transport related stereoisomers.',NULL,NULL,NULL,NULL,NULL),(17057,'UniProt Function',NULL,20238,NULL,'Transcription factor involved in the regulation of cell survival, proliferation, and differentiation. Transactivates the expression of the CLU gene.',NULL,NULL,NULL,NULL,NULL),(17058,'UniProt Function',NULL,20239,NULL,'Atypical E3 ubiquitin-protein ligase which specifically mediates ubiquitination of threonine and serine residues on target proteins, instead of ubiquitinating lysine residues (PubMed:29643511). Shows esterification activity towards both threonine and serine, with a preference for threonine, and acts via two essential catalytic cysteine residues that relay ubiquitin to its substrate via thioester intermediates (PubMed:29643511). Interacts with the E2 enzymes UBE2D1, UBE2D3, UBE2E1 and UBE2L3 (PubMed:18308511, PubMed:29643511). Plays a key role in neural development, probably by mediating ubiquitination of threonine residues on target proteins (Probable). Involved in different processes such as regulation of neurite outgrowth, synaptic growth, synaptogenesis and axon degeneration (By similarity). Required for the formation of major central nervous system axon tracts (By similarity). Required for proper axon growth by regulating axon navigation and axon branching: acts by regulating the subcellular location and stability of MAP3K12/DLK (By similarity). Required for proper localization of retinogeniculate projections but not for eye-specific segregation (By similarity). Regulates axon guidance in the olfactory system (By similarity). Involved in Wallerian axon degeneration, an evolutionarily conserved process that drives the loss of damaged axons: acts by promoting destabilization of NMNAT2, probably via ubiquitination of NMNAT2 (By similarity). Catalyzes ubiquitination of threonine and/or serine residues on NMNAT2, consequences of threonine and/or serine ubiquitination are however unknown (PubMed:29643511). Regulates the internalization of TRPV1 in peripheral sensory neurons (By similarity). May mediate ubiquitination and subsequent proteasomal degradation of TSC2/tuberin (PubMed:18308511). Independently of the E3 ubiquitin-protein ligase activity, also acts as a guanosine exchange factor (GEF) for RAN in neurons of dorsal root ganglia (PubMed:26304119). May function as a facilitator or regulator of transcriptional activation by MYC (PubMed:9689053).',NULL,NULL,NULL,NULL,NULL),(17059,'UniProt Function',NULL,20240,NULL,'Muscle contraction.',NULL,NULL,NULL,NULL,NULL),(17060,'UniProt Function',NULL,20241,NULL,'Binds to myosin; probably involved in interaction with thick myofilaments in the A-band.',NULL,NULL,NULL,NULL,NULL),(17061,'UniProt Function',NULL,20242,NULL,'Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing (PubMed:12032315). Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments (By similarity).',NULL,NULL,NULL,NULL,NULL),(17062,'UniProt Function',NULL,20243,NULL,'Smooth muscle cells (SM) and cardiac muscle cells-specific transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage (myogenesis) (By similarity).',NULL,NULL,NULL,NULL,NULL),(17063,'UniProt Function',NULL,20244,NULL,'Muscle contraction.',NULL,NULL,NULL,NULL,NULL),(17064,'UniProt Function',NULL,20245,NULL,'Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. May link the complex to the actin core bundle of microvilli (Probable).',NULL,NULL,NULL,NULL,NULL),(17065,'UniProt Function',NULL,20246,NULL,'Required for gamma-tubulin complex recruitment to the centrosome.',NULL,NULL,NULL,NULL,NULL),(17066,'UniProt Function',NULL,20247,NULL,'Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.',NULL,NULL,NULL,NULL,NULL),(17067,'UniProt Function',NULL,20248,NULL,'Myozenins may serve as intracellular binding proteins involved in linking Z-disk proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.',NULL,NULL,NULL,NULL,NULL),(17068,'UniProt Function',NULL,20249,NULL,'Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells, both in muscle and in brain. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A3 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In neurons, contributes to the rapid decrease of cytoplasmic Ca(2+) levels back to baseline after neuronal activation, and thereby contributes to modulate synaptic plasticity, learning and memory (By similarity). Required for normal oligodendrocyte differentiation and for normal myelination (PubMed:21959935). Mediates Ca(2+) efflux from mitochondria and contributes to mitochondrial Ca(2+) ion homeostasis (By similarity).',NULL,NULL,NULL,NULL,NULL),(17069,'UniProt Function',NULL,20250,NULL,'Metalloprotease that specifically deubiquitinates monoubiquitinated histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Preferentially deubiquitinates monoubiquitinated H2A in hyperacetylated nucleosomes. Deubiquitination of histone H2A leads to facilitate the phosphorylation and dissociation of histone H1 from the nucleosome. Acts as a coactivator by participating in the initiation and elongation steps of androgen receptor (AR)-induced gene activation.',NULL,NULL,NULL,NULL,NULL),(17070,'UniProt Function',NULL,20251,NULL,'May prevent inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). May bind to nascent polypeptide chains as they emerge from the ribosome and block their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. May also reduce the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites) (By similarity).',NULL,NULL,NULL,NULL,NULL),(17071,'UniProt Function',NULL,20253,NULL,'Functions as a transcriptional repressor through its association with the NuRD complex. Recruits the NuRD complex to the promoter of MDM2, leading to the repression of MDM2 transcription and subsequent stability of p53/TP53.',NULL,NULL,NULL,NULL,NULL),(17072,'UniProt Function',NULL,20254,NULL,'May be involved in inflammation and recognition of cytosolic pathogen-associated molecular patterns (PAMPs) not intercepted by membrane-bound receptors. Acts as a negative regulator of the type I interferon signaling pathway by serving as an adapter to promote DTX4-mediated ubiquitination of activated TBK1, and its subsequent degradation. Suppresses NF-kappaB induction by the cytokines TNFA and IL1B, suggesting that it operates at a point of convergence in these two cytokine signaling pathways.',NULL,NULL,NULL,NULL,NULL),(17073,'UniProt Function',NULL,20255,NULL,'As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions.',NULL,NULL,NULL,NULL,NULL),(17074,'UniProt Function',NULL,20256,NULL,'Plays a role in the maintenance of the undifferentiated state of germ cells regulating the spermatogonia cell cycle and inducing a prolonged transit in G1 phase. Affects cell proliferation probably by repressing translation of specific mRNAs. Maintains the germ cell lineage by suppressing both Bax-dependent and -independent apoptotic pathways. Essential in the early stage embryo to protect the migrating primordial germ cells (PGCs) from apoptosis.',NULL,NULL,NULL,NULL,NULL),(17075,'UniProt Function',NULL,20257,NULL,'The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4.',NULL,NULL,NULL,NULL,NULL),(17076,'UniProt Function',NULL,20259,NULL,'Component of the cap-binding complex (CBC), which binds cotranscriptionally to the 5\'-cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus via its interaction with ALYREF/THOC4/ALY, leading to the recruitment of the mRNA export machinery to the 5\'-end of mRNA and to mRNA export in a 5\' to 3\' direction through the nuclear pore. The CBC complex is also involved in mediating U snRNA and intronless mRNAs export from the nucleus. The CBC complex is essential for a pioneer round of mRNA translation, before steady state translation when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. The pioneer round of mRNA translation mediated by the CBC complex plays a central role in nonsense-mediated mRNA decay (NMD), NMD only taking place in mRNAs bound to the CBC complex, but not on eIF4E-bound mRNAs. The CBC complex enhances NMD in mRNAs containing at least one exon-junction complex (EJC) via its interaction with UPF1, promoting the interaction between UPF1 and UPF2. The CBC complex is also involved in \'failsafe\' NMD, which is independent of the EJC complex, while it does not participate in Staufen-mediated mRNA decay (SMD). During cell proliferation, the CBC complex is also involved in microRNAs (miRNAs) biogenesis via its interaction with SRRT/ARS2 and is required for miRNA-mediated RNA interference. The CBC complex also acts as a negative regulator of PARN, thereby acting as an inhibitor of mRNA deadenylation. In the CBC complex, NCBP1/CBP80 does not bind directly capped RNAs (m7GpppG-capped RNA) but is required to stabilize the movement of the N-terminal loop of NCBP2/CBP20 and lock the CBC into a high affinity cap-binding state with the cap structure. Associates with NCBP3 to form an alternative cap-binding complex (CBC) which plays a key role in mRNA export and is particularly important in cellular stress situations such as virus infections. The conventional CBC with NCBP2 binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus whereas the alternative CBC with NCBP3 does not bind snRNA and associates only with mRNA thereby playing a role only in mRNA export. NCBP1/CBP80 is required for cell growth and viability (PubMed:26382858).',NULL,NULL,NULL,NULL,NULL),(17077,'UniProt Function',NULL,20260,NULL,'Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes.',NULL,NULL,NULL,NULL,NULL),(17078,'UniProt Function',NULL,20261,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(17079,'UniProt Function',NULL,20262,NULL,'Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634). Acts by mediating hydroxylation of \'Arg-111\' of NDUFS7 (PubMed:27226634). May also have methyltransferase activity (Probable).',NULL,NULL,NULL,NULL,NULL),(17080,'UniProt Function',NULL,20263,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(17081,'UniProt Function',NULL,20264,NULL,'Seems to act as a scaffold protein in multiple signaling pathways. Modulates excitatory synaptic transmission and dendritic spine morphology. Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May play an important role in linking the actin cytoskeleton to the plasma membrane at the synaptic junction. Believed to target protein phosphatase 1/PP1 to dendritic spines, which are rich in F-actin, and regulates its specificity toward ion channels and other substrates, such as AMPA-type and NMDA-type glutamate receptors. Plays a role in regulation of G-protein coupled receptor signaling, including dopamine D2 receptors and alpha-adrenergic receptors. May establish a signaling complex for dopaminergic neurotransmission through D2 receptors by linking receptors downstream signaling molecules and the actin cytoskeleton. Binds to ADRA1B and RGS2 and mediates regulation of ADRA1B signaling. May confer to Rac signaling specificity by binding to both, RacGEFs and Rac effector proteins. Probably regulates p70 S6 kinase activity by forming a complex with TIAM1 (By similarity). Required for hepatocyte growth factor (HGF)-induced cell migration.',NULL,NULL,NULL,NULL,NULL),(17082,'UniProt Function',NULL,20265,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).',NULL,NULL,NULL,NULL,NULL),(17083,'UniProt Function',NULL,20266,NULL,'Required for neuron survival through the modulation of MAPK pathways (By similarity). Involved in the regulation of hypothalamic GNRH secretion and the control of puberty (By similarity).',NULL,NULL,NULL,NULL,NULL),(17084,'UniProt Function',NULL,20267,NULL,'Plays a role in myelin formation.',NULL,NULL,NULL,NULL,NULL),(17085,'UniProt Function',NULL,20268,NULL,'Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).',NULL,NULL,NULL,NULL,NULL),(17086,'UniProt Function',NULL,20269,NULL,'Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.',NULL,NULL,NULL,NULL,NULL),(17087,'UniProt Function',NULL,20270,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(17088,'UniProt Function',NULL,20271,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(17089,'UniProt Function',NULL,20272,NULL,'Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Has high deacetylase activity but low sulfotransferase activity.',NULL,NULL,NULL,NULL,NULL),(17090,'UniProt Function',NULL,20273,NULL,'Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Responsible for the release of glucagon from proglucagon in pancreatic A cells.',NULL,NULL,NULL,NULL,NULL),(17091,'UniProt Function',NULL,20274,NULL,'Involved in the development and/or maintenance of neuronal circuitry. Accessory subunit of the neuronal N-methyl-D-aspartate receptor (NMDAR) critical for maintaining the abundance of GRIN2A-containing NMDARs in the postsynaptic density. Regulates long-term NMDA receptor-dependent synaptic plasticity and cognition, at least in the context of spatial learning and memory (By similarity).',NULL,NULL,NULL,NULL,NULL),(17092,'UniProt Function',NULL,20275,NULL,'Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 and IL-4. Transcriptionally repressed by estrogen receptors; this inhibition is further enhanced by estrogen. Increases the transcriptional activity of PPARG and has a direct role in adipocyte differentiation. May play an important role in myotube differentiation. May play a critical role in cardiac development and hypertrophy. May play a role in deafferentation-induced apoptosis of sensory neurons.',NULL,NULL,NULL,NULL,NULL),(17093,'UniProt Function',NULL,20276,NULL,'May function in immune system as a receptor which activates via the calcineurin/NFAT-signaling pathway the downstream cytokine gene promoters. Activates the transcription of IL-13 and TNF-alpha promoters. May be involved in the regulation of B-cell, but not T-cell, development. Overexpression activates downstream effectors without ligand binding or antibody cross-linking.',NULL,NULL,NULL,NULL,NULL),(17094,'UniProt Function',NULL,20277,NULL,'Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems. Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades through those receptor tyrosine kinase to regulate neuronal proliferation, differentiation and survival. Inhibits metalloproteinase dependent proteolysis of platelet glycoprotein VI (PubMed:20164177).',NULL,NULL,NULL,NULL,NULL),(17095,'UniProt Function',NULL,20278,NULL,'Involved in the microtubule organization in interphase cells. Overexpression induces the fragmentation of the Golgi, and causes lysosomes to disperse toward the cell periphery; it also interferes with mitotic spindle assembly. May play a role in ovarian carcinogenesis.',NULL,NULL,NULL,NULL,NULL),(17096,'UniProt Function',NULL,20282,NULL,'Cell membrane receptor of natural killer/NK cells that is activated by binding of extracellular ligands including BAG6 and NCR3LG1. Stimulates NK cells cytotoxicity toward neighboring cells producing these ligands. It controls, for instance, NK cells cytotoxicity against tumor cells. Engagement of NCR3 by BAG6 also promotes myeloid dendritic cells (DC) maturation, both through killing DCs that did not acquire a mature phenotype, and inducing the release by NK cells of TNFA and IFNG which promote DC maturation.',NULL,NULL,NULL,NULL,NULL),(17097,'UniProt Function',NULL,20283,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(17098,'UniProt Function',NULL,20284,NULL,'Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1.',NULL,NULL,NULL,NULL,NULL),(17099,'UniProt Function',NULL,20285,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(17100,'UniProt Function',NULL,20286,NULL,'Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).',NULL,NULL,NULL,NULL,NULL),(17101,'UniProt Function',NULL,20287,NULL,'This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.',NULL,NULL,NULL,NULL,NULL),(17102,'UniProt Function',NULL,20288,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. May be the terminally assembled subunit of Complex I.',NULL,NULL,NULL,NULL,NULL),(17103,'UniProt Function',NULL,20289,NULL,'Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II. Provides the strongest RNA binding activity of the NELF complex and may initially recruit the NELF complex to RNA. Binds to the HIV-1 TAR RNA which is located in the long terminal repeat (LTR) of HIV-1.',NULL,NULL,NULL,NULL,NULL),(17104,'UniProt Function',NULL,20290,NULL,'Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells (PubMed:10358178). Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity).',NULL,NULL,NULL,NULL,NULL),(17105,'UniProt Function',NULL,20291,NULL,'Plays a role in modulating the ganglioside content of the lipid bilayer at the level of membrane-bound sialyl glycoconjugates.',NULL,NULL,NULL,NULL,NULL),(17106,'UniProt Function',NULL,20292,NULL,'Transcription factor involved, among others, in the transcriptional regulation of osmoprotective and inflammatory genes. Mediates the transcriptional response to hypertonicity (PubMed:10051678). Positively regulates the transcription of LCN2 and S100A4 genes; optimal transactivation of these genes requires the presence of DDX5/DDX17 (PubMed:22266867). Binds the DNA consensus sequence 5\'-[ACT][AG]TGGAAA[CAT]A[TA][ATC][CA][ATG][GT][GAC][CG][CT]-3\' (PubMed:10377394).',NULL,NULL,NULL,NULL,NULL),(17107,'UniProt Function',NULL,20293,NULL,'Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens (PubMed:18487197). Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule (By similarity). Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1 (PubMed:18487197). Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline (PubMed:18487197). Has no activity on substrates that lack 4-hydroxyproline in the third position (PubMed:18487197).',NULL,NULL,NULL,NULL,NULL),(17108,'UniProt Function',NULL,20294,NULL,'Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy.',NULL,NULL,NULL,NULL,NULL),(17109,'UniProt Function',NULL,20295,NULL,'Bone marrow-derived monocyte and paracrine-acting protein that promotes cardiac myocyte survival and adaptive angiogenesis for cardiac protection and/or repair after myocardial infarction (MI). Stimulates endothelial cell proliferation through a MAPK1/3-, STAT3- and CCND1-mediated signaling pathway. Inhibits cardiac myocyte apoptosis in a PI3K/AKT-dependent signaling pathway (By similarity). Involved in endothelial cell proliferation and angiogenesis (PubMed:25581518).',NULL,NULL,NULL,NULL,NULL),(17110,'UniProt Function',NULL,20296,NULL,'Actin-based motor molecule with ATPase activity that localizes to the mitochondrion outer membrane (PubMed:19932026, PubMed:23568824, PubMed:25447992). Motor protein that moves towards the plus-end of actin filaments (By similarity). Required for mitochondrial inheritance during mitosis (PubMed:25447992). May be involved in mitochondrial transport or positioning (PubMed:23568824).',NULL,NULL,NULL,NULL,NULL),(17111,'UniProt Function',NULL,20298,NULL,'Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction.',NULL,NULL,NULL,NULL,NULL),(17112,'UniProt Function',NULL,20299,NULL,'Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity).',NULL,NULL,NULL,NULL,NULL),(17113,'UniProt Function',NULL,20300,NULL,'Regulatory light chain of myosin. Does not bind calcium.',NULL,NULL,NULL,NULL,NULL),(17114,'UniProt Function',NULL,20301,NULL,'Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions (PubMed:9490638). Also acts as a GTPase activator for RHOA (PubMed:9490638, PubMed:26529257). Plays a role in the regulation of cell migration via its role as RHOA GTPase activator. This is regulated by its interaction with the SLIT2 receptor ROBO1; interaction with ROBO1 impairs interaction with RHOA and subsequent activation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257).',NULL,NULL,NULL,NULL,NULL),(17115,'UniProt Function',NULL,20302,NULL,'Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Actively participates in the membrane fusion reaction. Associates with MYMX to promote myoblast fusion.',NULL,NULL,NULL,NULL,NULL),(17116,'UniProt Function',NULL,20303,NULL,'Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.',NULL,NULL,NULL,NULL,NULL),(17117,'UniProt Function',NULL,20304,NULL,'This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin.',NULL,NULL,NULL,NULL,NULL),(17118,'UniProt Function',NULL,20306,NULL,'Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2. Isoform 2 lacks repression ability (By similarity).',NULL,NULL,NULL,NULL,NULL),(17119,'UniProt Function',NULL,20307,NULL,'N-alpha-acetyltransferase that acetylates the N-terminus of proteins that retain their initiating methionine (PubMed:19744929, PubMed:22311970, PubMed:21900231, PubMed:27484799). Has a broad substrate specificity: able to acetylate the initiator methionine of most peptides, except for those with a proline in second position (PubMed:27484799). Also displays N-epsilon-acetyltransferase activity by mediating acetylation of the side chain of specific lysines on proteins (PubMed:19744929). Autoacetylates in vivo (PubMed:19744929). The relevance of N-epsilon-acetyltransferase activity is however unclear: able to acetylate H4 in vitro, but this result has not been confirmed in vivo (PubMed:19744929). Component of a N-alpha-acetyltransferase complex containing NAA10 and NAA15, but NAA50 does not influence the acetyltransferase activity of NAA10: this multiprotein complex probably constitutes the major contributor for N-terminal acetylation at the ribosome exit tunnel, with NAA10 acetylating all amino termini that are devoid of methionine and NAA50 acetylating other peptides (PubMed:16507339, PubMed:27484799). Required for sister chromatid cohesion during mitosis by promoting binding of CDCA5/sororin to cohesin: may act by counteracting the function of NAA10 (PubMed:17502424, PubMed:27422821).',NULL,NULL,NULL,NULL,NULL),(17120,'UniProt Function',NULL,20308,NULL,'Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity).',NULL,NULL,NULL,NULL,NULL),(17121,'UniProt Function',NULL,20309,NULL,'Adapter protein which associates with tyrosine-phosphorylated growth factor receptors or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling.',NULL,NULL,NULL,NULL,NULL),(17122,'UniProt Function',NULL,20310,NULL,'Cytotoxicity-activating receptor that may contribute to the increased efficiency of activated natural killer (NK) cells to mediate tumor cell lysis.',NULL,NULL,NULL,NULL,NULL),(17123,'UniProt Function',NULL,20311,NULL,'Regulates stability of MYCN in neuroblastoma cells by inhibiting GSK3B-mediated MYCN phosphorylation. Inhibits GSK3B activity by promoting its phosphorylation at \'Ser-9\' (PubMed:24391509).',NULL,NULL,NULL,NULL,NULL),(17124,'UniProt Function',NULL,20312,NULL,'Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived. May play a role in calcium transport during amelogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(17125,'UniProt Function',NULL,20313,NULL,'Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium-Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+).',NULL,NULL,NULL,NULL,NULL),(17126,'UniProt Function',NULL,20314,NULL,'Enhances the transcriptional activities of several nuclear receptors. Involved in the coactivation of different nuclear receptors, such as ESR1, THRB, PPARG and RARA.',NULL,NULL,NULL,NULL,NULL),(17127,'UniProt Function',NULL,20315,NULL,'Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Inhibitor of p53-induced apoptosis.',NULL,NULL,NULL,NULL,NULL),(17128,'UniProt Function',NULL,20316,NULL,'Contributes to the regulation of the Wnt signaling pathway. Down-regulates CTNNB1-mediated transcriptional activation of target genes, such as CCND1, and may thereby act as tumor suppressor. May be involved in dendritic cell and neuron differentiation.',NULL,NULL,NULL,NULL,NULL),(17129,'UniProt Function',NULL,20317,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(17130,'UniProt Function',NULL,20318,NULL,'Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.',NULL,NULL,NULL,NULL,NULL),(17131,'UniProt Function',NULL,20319,NULL,'Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis (PubMed:10758005, PubMed:12634318). Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Compared to other NDST enzymes, its presence is absolutely required. Participates in biosynthesis of heparan sulfate that can ultimately serve as L-selectin ligands, thereby playing a role in inflammatory response (PubMed:10758005, PubMed:12634318). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).',NULL,NULL,NULL,NULL,NULL),(17132,'UniProt Function',NULL,20320,NULL,'Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).',NULL,NULL,NULL,NULL,NULL),(17133,'UniProt Function',NULL,20321,NULL,'Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization.',NULL,NULL,NULL,NULL,NULL),(17134,'UniProt Function',NULL,20322,NULL,'Accessory subunit of neuronal kainate-sensitive glutamate receptors, GRIK2 and GRIK3. Increases kainate-receptor channel activity, slowing the decay kinetics of the receptors, without affecting their expression at the cell surface, and increasing the open probability of the receptor channels. Modulates the agonist sensitivity of kainate receptors. Slows the decay of kainate receptor-mediated excitatory postsynaptic currents (EPSCs), thus directly influencing synaptic transmission (By similarity).',NULL,NULL,NULL,NULL,NULL),(17135,'UniProt Function',NULL,20323,NULL,'Activates HECT domain-containing E3 ubiquitin-protein ligases, including NEDD4 and ITCH, and consequently modulates the stability of their targets. As a result, controls many cellular processes. Prevents chronic T-helper cell-mediated inflammation by activating ITCH and thus controlling JUNB degradation (By similarity). Promotes pancreatic beta cell death through degradation of JUNB and inhibition of the unfolded protein response, leading to reduction of insulin secretion (PubMed:26319551). Restricts the production of proinflammatory cytokines in effector Th17 T-cells by promoting ITCH-mediated ubiquitination and degradation of RORC (By similarity). Together with NDFIP2, limits the cytokine signaling and expansion of effector Th2 T-cells by promoting degradation of JAK1, probably by ITCH- and NEDD4L-mediated ubiquitination (By similarity). Regulates peripheral T-cell tolerance to self and foreign antigens, forcing the exit of naive CD4+ T-cells from the cell cycle before they become effector T-cells (By similarity). Negatively regulates RLR-mediated antiviral response by promoting SMURF1-mediated ubiquitination and subsequent degradation of MAVS (PubMed:23087404). Negatively regulates KCNH2 potassium channel activity by decreasing its cell-surface expression and interfering with channel maturation through recruitment of NEDD4L to the Golgi apparatus where it mediates KCNH2 degradation (PubMed:26363003). In cortical neurons, mediates the ubiquitination of the divalent metal transporter SLC11A2/DMT1 by NEDD4L, leading to its down-regulation and protection of the cells from cobalt and iron toxicity (PubMed:19706893). Important for normal development of dendrites and dendritic spines in cortex (By similarity). Enhances the ubiquitination of BRAT1 mediated by: NEDD4, NEDD4L and ITCH and is required for the nuclear localization of ubiquitinated BRAT1 (PubMed:25631046). Enhances the ITCH-mediated ubiquitination of MAP3K7 by recruiting E2 ubiquitin-conjugating enzyme UBE2L3 to ITCH (By similarity). Modulates EGFR signaling through multiple pathways. In particular, may regulate the ratio of AKT1-to-MAPK8 signaling in response to EGF, acting on AKT1 probably through PTEN destabilization and on MAPK8 through ITCH-dependent MAP2K4 inactivation. As a result, may control cell growth rate (PubMed:20534535). Inhibits cell proliferation by promoting PTEN nuclear localization and changing its signaling specificity (PubMed:25801959).',NULL,NULL,NULL,NULL,NULL),(17136,'UniProt Function',NULL,20324,NULL,'Required for brain and eye development. Promotes the disassembly of phosphorylated vimentin intermediate filaments (IF) during mitosis and may play a role in the trafficking and distribution of IF proteins and other cellular factors to daughter cells during progenitor cell division. Required for survival, renewal and mitogen-stimulated proliferation of neural progenitor cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(17137,'UniProt Function',NULL,20326,NULL,'Plays an important role in the process of myofiber differentiation and maturation. Probable substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of proteins. Probably contributes to catalysis through recognition and positioning of the substrate and the ubiquitin-conjugating enzyme. During myogenesis, controls the ubiquitination and degradation of the specific pool of CTNNB1/beta-catenin located at the sarcolemma (By similarity).',NULL,NULL,NULL,NULL,NULL),(17138,'UniProt Function',NULL,20327,NULL,'Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.',NULL,NULL,NULL,NULL,NULL),(17139,'UniProt Function',NULL,20328,NULL,'Recognizes and binds the palindromic sequence 5\'-TTGGCNNNNNGCCAA-3\' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.',NULL,NULL,NULL,NULL,NULL),(17140,'UniProt Function',NULL,20329,NULL,'E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.',NULL,NULL,NULL,NULL,NULL),(17141,'UniProt Function',NULL,20332,NULL,'Developmentally regulated, secreted growth factor homologous to pleiotrophin (PTN), which has heparin binding activity. Binds anaplastic lymphoma kinase (ALK) which induces ALK activation and subsequent phosphorylation of the insulin receptor substrate (IRS1), followed by the activation of mitogen-activated protein kinase (MAPK) and PI3-kinase, and the induction of cell proliferation. Involved in neointima formation after arterial injury, possibly by mediating leukocyte recruitment. Also involved in early fetal adrenal gland development (By similarity).',NULL,NULL,NULL,NULL,NULL),(17142,'UniProt Function',NULL,20333,NULL,'Putative transcription factor involved in pancreas development and function.',NULL,NULL,NULL,NULL,NULL),(17143,'UniProt Function',NULL,20334,NULL,'Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. Also component of the mSin3A complex which acts to repress transcription by deacetylation of nucleosomal histones. Required for homologous recombination repair (HRR) and resistance to mitomycin C (MMC). Involved in the localization of PALB2, BRCA2 and RAD51, but not BRCA1, to DNA-damage foci.',NULL,NULL,NULL,NULL,NULL),(17144,'UniProt Function',NULL,20335,NULL,'Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. Also component of the MSIN3A complex which acts to repress transcription by deacetylation of nucleosomal histones.',NULL,NULL,NULL,NULL,NULL),(17145,'UniProt Function',NULL,20336,NULL,'Odorant receptor.',NULL,NULL,NULL,NULL,NULL),(17146,'UniProt Function',NULL,20337,NULL,'Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. May play a role in SDF1A-stimulated chemotaxis (By similarity).',NULL,NULL,NULL,NULL,NULL),(17147,'UniProt Function',NULL,20338,NULL,'Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts.',NULL,NULL,NULL,NULL,NULL),(17148,'UniProt Function',NULL,20339,NULL,'Together with PI4K2A and the type III PI4Ks (PIK4CA and PIK4CB) it contributes to the overall PI4-kinase activity of the cell. This contribution may be especially significant in plasma membrane, endosomal and Golgi compartments. The phosphorylation of phosphatidylinositol (PI) to PI4P is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3). Contributes to the production of InsP3 in stimulated cells and is likely to be involved in the regulation of vesicular trafficking.',NULL,NULL,NULL,NULL,NULL),(17149,'UniProt Function',NULL,20340,NULL,'Catalyzes the formation of formate and 2-keto-4-methylthiobutyrate (KMTB) from 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene). Also down-regulates cell migration mediated by MMP14. Necessary for hepatitis C virus replication in an otherwise non-permissive cell line.',NULL,NULL,NULL,NULL,NULL),(17150,'UniProt Function',NULL,20341,NULL,'Involved in the DNA damage response pathway by contributing to the maintenance of chromatin architecture. Recruited to the vicinity of DNA breaks by TP53BP1 and plays an accessory role to facilitate damage-induced chromatin changes and promoting chromatin relaxation. Required for efficient DNA repair and cell survival following DNA damage.',NULL,NULL,NULL,NULL,NULL),(17151,'UniProt Function',NULL,20342,NULL,'Isoform 1: Suppresses SRC activation by recognizing and binding to active SRC and facilitating PTPN13-mediated dephosphorylation of SRC \'Tyr-419\' leading to its inactivation. Inactivated SRC dissociates from this protein allowing the initiation of a new SRC inactivation cycle (PubMed:19307596). Involved in reorganization of the actin cytoskeleton (PubMed:21636573). In nonmuscle cells, binds to ACTN1 (alpha-actinin-1), increases the affinity of ACTN1 to F-actin (filamentous actin), and promotes formation of actin stress fibers. Involved in regulation of the synaptic AMPA receptor transport in dendritic spines of hippocampal pyramidal neurons directing the receptors toward an insertion at the postsynaptic membrane. Links endosomal surface-internalized GRIA1-containing AMPA receptors to the alpha-actinin/actin cytoskeleton. Increases AMPA receptor-mediated excitatory postsynaptic currents in neurons (By similarity).',NULL,NULL,NULL,NULL,NULL),(17152,'UniProt Function',NULL,20342,NULL,'Isoform 2: Involved in reorganization of the actin cytoskeleton and in regulation of cell migration. In response to oxidative stress, binds to NQO1, which stabilizes it and protects it from ubiquitin-independent degradation by the core 20S proteasome. Stabilized protein is able to heterodimerize with isoform 1 changing the subcellular location of it from cytoskeleton and nuclei to cytosol, leading to loss of isoforms 1 ability to induce formation of actin stress fibers. Counteracts the effects produced by isoform 1 on organization of actin cytoskeleton and cell motility to fine-tune actin cytoskeleton rearrangement and to attenuate cell migration.',NULL,NULL,NULL,NULL,NULL),(17153,'UniProt Function',NULL,20344,NULL,'Positively regulates the transcription of MYCNOS in neuroblastoma cells.',NULL,NULL,NULL,NULL,NULL),(17154,'UniProt Function',NULL,20345,NULL,'Involved in muscle contraction.',NULL,NULL,NULL,NULL,NULL),(17155,'UniProt Function',NULL,20346,NULL,'Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.',NULL,NULL,NULL,NULL,NULL),(17156,'UniProt Function',NULL,20347,NULL,'Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. Binds to membranes containing anionic phospholipids via its tail domain. Required for normal morphology of the glomerular basement membrane, normal development of foot processes by kidney podocytes and normal kidney function. In dendritic cells, may control the movement of class II-containing cytoplasmic vesicles along the actin cytoskeleton by connecting them with the actin network via ARL14EP and ARL14.',NULL,NULL,NULL,NULL,NULL),(17157,'UniProt Function',NULL,20348,NULL,'Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.',NULL,NULL,NULL,NULL,NULL),(17158,'UniProt Function',NULL,20349,NULL,'Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation, cell cycle exit and muscle atrophy. Essential for the development of functional embryonic skeletal fiber muscle differentiation. However is dispensable for postnatal skeletal muscle growth; phosphorylation by CAMK2G inhibits its transcriptional activity in respons to muscle activity. Required for the recruitment of the FACT complex to muscle-specific promoter regions, thus promoting gene expression initiation. During terminal myoblast differentiation, plays a role as a strong activator of transcription at loci with an open chromatin structure previously initiated by MYOD1. Together with MYF5 and MYOD1, co-occupies muscle-specific gene promoter core regions during myogenesis. Cooperates also with myocyte-specific enhancer factor MEF2D and BRG1-dependent recruitment of SWI/SNF chromatin-remodeling enzymes to alter chromatin structure at myogenic late gene promoters. Facilitates cell cycle exit during terminal muscle differentiation through the up-regulation of miR-20a expression, which in turn represses genes involved in cell cycle progression. Binds to the E-box containing (E1) promoter region of the miR-20a gene. Plays also a role in preventing reversal of muscle cell differentiation. Contributes to the atrophy-related gene expression in adult denervated muscles. Induces fibroblasts to differentiate into myoblasts (By similarity).',NULL,NULL,NULL,NULL,NULL),(17159,'UniProt Function',NULL,20350,NULL,'Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Probably acts by mediating the mixing of cell membranes. Associates with MYMK to promote myoblast fusion.',NULL,NULL,NULL,NULL,NULL),(17160,'UniProt Function',NULL,20351,NULL,'May link the intermediate filament cytoskeleton to the M-disk of the myofibrils in striated muscle.',NULL,NULL,NULL,NULL,NULL),(17161,'UniProt Function',NULL,20352,NULL,'Key regulator of protein phosphatase 1C (PPP1C). Mediates binding to myosin. As part of the PPP1C complex, involved in dephosphorylation of PLK1. Capable of inhibiting HIF1AN-dependent suppression of HIF1A activity.',NULL,NULL,NULL,NULL,NULL),(17162,'UniProt Function',NULL,20353,NULL,'Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites) (By similarity).',NULL,NULL,NULL,NULL,NULL),(17163,'UniProt Function',NULL,20354,NULL,'Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity).',NULL,NULL,NULL,NULL,NULL),(17164,'UniProt Function',NULL,20355,NULL,'Methyltransferase that can methylate both proteins and DNA, and to a lower extent, arsenic (PubMed:18539146, PubMed:21193388, PubMed:30017583). Catalytic subunit of a heterodimer with TRMT112, which catalyzes N5-methylation of Glu residue of proteins with a Gly-Gln-Xaa-Xaa-Xaa-Arg motif (PubMed:18539146) (By similarity). Methylates ETF1 on \'Gln-185\'; ETF1 needs to be complexed to ERF3 in its GTP-bound form to be efficiently methylated (PubMed:18539146, PubMed:20606008). Also acts as a N(6)-adenine-specific DNA methyltransferase by mediating methylation of DNA on the 6th position of adenine (N(6)-methyladenosine) (PubMed:30017583). N(6)-methyladenosine (m6A) DNA is significantly enriched in exonic regions and is associated with gene transcriptional activation (PubMed:30017583). May also play a role in the modulation of arsenic-induced toxicity by mediating the conversion of monomethylarsonous acid (3+) into the less toxic dimethylarsonic acid (PubMed:21193388, PubMed:25997655). It however only plays a limited role in arsenic metabolism compared with AS3MT (PubMed:25997655).',NULL,NULL,NULL,NULL,NULL),(17165,'UniProt Function',NULL,20356,NULL,'Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. The NAT activity may be important for vascular, hematopoietic and neuronal growth and development. Required to control retinal neovascularization in adult ocular endothelial cells. In complex with XRCC6 and XRCC5 (Ku80), up-regulates transcription from the osteocalcin promoter.',NULL,NULL,NULL,NULL,NULL),(17166,'UniProt Function',NULL,20357,NULL,'Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals. MTOR directly or indirectly regulates the phosphorylation of at least 800 proteins. Functions as part of 2 structurally and functionally distinct signaling complexes mTORC1 and mTORC2 (mTOR complex 1 and 2). Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. This includes phosphorylation of EIF4EBP1 and release of its inhibition toward the elongation initiation factor 4E (eiF4E). Moreover, phosphorylates and activates RPS6KB1 and RPS6KB2 that promote protein synthesis by modulating the activity of their downstream targets including ribosomal protein S6, eukaryotic translation initiation factor EIF4B, and the inhibitor of translation initiation PDCD4. Stimulates the pyrimidine biosynthesis pathway, both by acute regulation through RPS6KB1-mediated phosphorylation of the biosynthetic enzyme CAD, and delayed regulation, through transcriptional enhancement of the pentose phosphate pathway which produces 5-phosphoribosyl-1-pyrophosphate (PRPP), an allosteric activator of CAD at a later step in synthesis, this function is dependent on the mTORC1 complex. Regulates ribosome synthesis by activating RNA polymerase III-dependent transcription through phosphorylation and inhibition of MAF1 an RNA polymerase III-repressor. In parallel to protein synthesis, also regulates lipid synthesis through SREBF1/SREBP1 and LPIN1. To maintain energy homeostasis mTORC1 may also regulate mitochondrial biogenesis through regulation of PPARGC1A. mTORC1 also negatively regulates autophagy through phosphorylation of ULK1. Under nutrient sufficiency, phosphorylates ULK1 at \'Ser-758\', disrupting the interaction with AMPK and preventing activation of ULK1. Also prevents autophagy through phosphorylation of the autophagy inhibitor DAP. mTORC1 exerts a feedback control on upstream growth factor signaling that includes phosphorylation and activation of GRB10 a INSR-dependent signaling suppressor. Among other potential targets mTORC1 may phosphorylate CLIP1 and regulate microtubules. As part of the mTORC2 complex MTOR may regulate other cellular processes including survival and organization of the cytoskeleton. Plays a critical role in the phosphorylation at \'Ser-473\' of AKT1, a pro-survival effector of phosphoinositide 3-kinase, facilitating its activation by PDK1. mTORC2 may regulate the actin cytoskeleton, through phosphorylation of PRKCA, PXN and activation of the Rho-type guanine nucleotide exchange factors RHOA and RAC1A or RAC1B. mTORC2 also regulates the phosphorylation of SGK1 at \'Ser-422\' (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:12231510, PubMed:12718876, PubMed:14651849, PubMed:15268862, PubMed:15467718, PubMed:15545625, PubMed:15718470, PubMed:18497260, PubMed:18762023, PubMed:18925875, PubMed:20516213, PubMed:20537536, PubMed:21659604, PubMed:23429703, PubMed:23429704, PubMed:25799227, PubMed:26018084). Regulates osteoclastogenesis by adjusting the expression of CEBPB isoforms (By similarity).',NULL,NULL,NULL,NULL,NULL),(17167,'UniProt Function',NULL,20358,NULL,'Interacts with EME1 and EME2 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5\'-end at the branch nick. Typical substrates include 3\'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks.',NULL,NULL,NULL,NULL,NULL),(17168,'UniProt Function',NULL,20359,NULL,'Mediates effects on cell migration and adhesion through its different partners. During development plays a role in blood and lymphatic vessels separation by binding CLEC1B, triggering CLEC1B activation in platelets and leading to platelet activation and/or aggregation (PubMed:14522983, PubMed:15231832, PubMed:17616532, PubMed:18215137, PubMed:17222411). Interaction with CD9, on the contrary, attenuates platelet aggregation induced by PDPN (PubMed:18541721). Through MSN or EZR interaction promotes epithelial-mesenchymal transition (EMT) leading to ERZ phosphorylation and triggering RHOA activation leading to cell migration increase and invasiveness (PubMed:17046996, PubMed:21376833). Interaction with CD44 promotes directional cell migration in epithelial and tumor cells (PubMed:20962267). In lymph nodes (LNs), controls fibroblastic reticular cells (FRCs) adhesion to the extracellular matrix (ECM) and contraction of the actomyosin by maintaining ERM proteins (EZR; MSN and RDX) and MYL9 activation through association with unknown transmembrane proteins. Engagement of CLEC1B by PDPN promotes FRCs relaxation by blocking lateral membrane interactions leading to reduction of ERM proteins (EZR; MSN and RDX) and MYL9 activation (By similarity). Through binding with LGALS8 may participate to connection of the lymphatic endothelium to the surrounding extracellular matrix (PubMed:19268462). In keratinocytes, induces changes in cell morphology showing an elongated shape, numerous membrane protrusions, major reorganization of the actin cytoskeleton, increased motility and decreased cell adhesion (PubMed:15515019). Controls invadopodia stability and maturation leading to efficient degradation of the extracellular matrix (ECM) in tumor cells through modulation of RHOC activity in order to activate ROCK1/ROCK2 and LIMK1/LIMK2 and inactivation of CFL1 (PubMed:25486435). Required for normal lung cell proliferation and alveolus formation at birth (By similarity). Does not function as a water channel or as a regulator of aquaporin-type water channels (PubMed:9651190). Does not have any effect on folic acid or amino acid transport (By similarity).',NULL,NULL,NULL,NULL,NULL),(17169,'UniProt Function',NULL,20360,NULL,'Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5\'-CAC[GA]TG-3\'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX.',NULL,NULL,NULL,NULL,NULL),(17170,'UniProt Function',NULL,20361,NULL,'May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. May play a role in the control of tumor development and progression; restored MYO18B expression in lung cancer cells suppresses anchorage-independent growth.',NULL,NULL,NULL,NULL,NULL),(17171,'UniProt Function',NULL,20362,NULL,'Muscle contraction.',NULL,NULL,NULL,NULL,NULL),(17172,'UniProt Function',NULL,20363,NULL,'Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.',NULL,NULL,NULL,NULL,NULL),(17173,'UniProt Function',NULL,20364,NULL,'Regulatory light chain of myosin. Does not bind calcium.',NULL,NULL,NULL,NULL,NULL),(17174,'UniProt Function',NULL,20365,NULL,'Unconventional myosin required during immune response for detection of rare antigen-presenting cells by regulating T-cell migration. Unconventional myosins are actin-based motor molecules with ATPase activity and serve in intracellular movements. Acts as a regulator of T-cell migration by generating membrane tension, enforcing cell-intrinsic meandering search, thereby enhancing detection of rare antigens during lymph-node surveillance, enabling pathogen eradication. Also required in B-cells, where it regulates different membrane/cytoskeleton-dependent processes. Involved in Fc-gamma receptor (Fc-gamma-R) phagocytosis.',NULL,NULL,NULL,NULL,NULL),(17175,'UniProt Function',NULL,20365,NULL,'Minor histocompatibility antigen HA-2: Constitutes the minor histocompatibility antigen HA-2. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and their expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. HA-2 is restricted to MHC class I HLA-A*0201.',NULL,NULL,NULL,NULL,NULL),(17176,'UniProt Function',NULL,20366,NULL,'Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.',NULL,NULL,NULL,NULL,NULL),(17177,'UniProt Function',NULL,20367,NULL,'Binds to the promoter region of genes encoding proteolipid proteins of the central nervous system. May play a role in the development of neurons and oligodendroglia in the CNS. May regulate a critical transition point in oligodendrocyte lineage development by modulating oligodendrocyte progenitor proliferation relative to terminal differentiation and up-regulation of myelin gene transcription.',NULL,NULL,NULL,NULL,NULL),(17178,'UniProt Function',NULL,20368,NULL,'Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.',NULL,NULL,NULL,NULL,NULL),(17179,'UniProt Function',NULL,20369,NULL,'Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.',NULL,NULL,NULL,NULL,NULL),(17180,'UniProt Function',NULL,20370,NULL,'Plays a role in cellular signaling via Rho-related GTP-binding proteins and subsequent activation of transcription factor SRF (By similarity). Targets TJP1 to cell junctions. In cortical neurons, may play a role in glutaminergic signal transduction through interaction with the NMDA receptor subunit GRIN1 (By similarity).',NULL,NULL,NULL,NULL,NULL),(17181,'UniProt Function',NULL,20371,NULL,'Associates with immunoglobulin M (IgM) heavy and light chains and promotes IgM assembly and secretion. May exert its effect by acting as a molecular chaperone or as an oxidoreductase as it displays a low level of oxidoreductase activity (By similarity). Isoform 2 may be involved in regulation of apoptosis. Helps to diversify peripheral B-cell functions by regulating Ca(2+) stores, antibody secretion and integrin activation.',NULL,NULL,NULL,NULL,NULL),(17182,'UniProt Function',NULL,20371,NULL,'Acts as a hormone-regulated adipokine/proinflammatory cytokine that is implicated in causing chronic inflammation, affecting cellular expansion and blunting insulin response in adipocytes. May have a role in the onset of insulin resistance.',NULL,NULL,NULL,NULL,NULL),(17183,'UniProt Function',NULL,20372,NULL,'Membrane-bound phosphatidylinositol-4 kinase (PI4-kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3).',NULL,NULL,NULL,NULL,NULL),(17184,'UniProt Function',NULL,20374,NULL,'Component of exosome targeting complexes. Subunit of the trimeric nuclear exosome targeting (NEXT) complex, a complex that directs a subset of non-coding short-lived RNAs for exosomal degradation. Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484). Associated with the RNA exosome complex and involved in the 3\'-processing of the 7S pre-RNA to the mature 5.8S rRNA (PubMed:17412707, PubMed:29107693). May be involved in pre-mRNA splicing.',NULL,NULL,NULL,NULL,NULL),(17185,'UniProt Function',NULL,20375,NULL,'Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine spermine.',NULL,NULL,NULL,NULL,NULL),(17186,'UniProt Function',NULL,20376,NULL,'Regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Plays a role in androgen-induced proliferative arrest in prostate cells.',NULL,NULL,NULL,NULL,NULL),(17187,'UniProt Function',NULL,20377,NULL,'May link Golgi membranes to the cytoskeleton and participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus (PubMed:19837035, PubMed:23345592). Alternatively, in concert with LURAP1 and CDC42BPA/CDC42BPB, has been involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). May be involved in the maintenance of the stromal cell architectures required for cell to cell contact (By similarity). Regulates trafficking, expression, and activation of innate immune receptors on macrophages. Plays a role to suppress inflammatory responsiveness of macrophages via a mechanism that modulates CD14 trafficking (PubMed:25965346). Acts as a receptor of surfactant-associated protein A (SFTPA1/SP-A) and plays an important role in internalization and clearance of SFTPA1-opsonized S.aureus by alveolar macrophages (PubMed:16087679, PubMed:21123169). Strongly enhances natural killer cell cytotoxicity (PubMed:27467939).',NULL,NULL,NULL,NULL,NULL),(17188,'UniProt Function',NULL,20379,NULL,'May play a role in the maturation and maintenance of blood-brain barrier.',NULL,NULL,NULL,NULL,NULL),(17189,'UniProt Function',NULL,20379,NULL,'(Microbial infection) Contributes to arthritogenic alphavirus pathogenesis and acts as a receptor for these viruses.',NULL,NULL,NULL,NULL,NULL),(17190,'UniProt Function',NULL,20380,NULL,'Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5\'-YAAC[GT]G-3\'. Plays an important role in the control of proliferation and differentiation of hematopoietic progenitor cells.',NULL,NULL,NULL,NULL,NULL),(17191,'UniProt Function',NULL,20381,NULL,'E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of myosin regulatory light chain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymes of the UBE2D family. Proteasomal degradation of MRLC leads to inhibit neurite outgrowth in presence of NGF by counteracting the stabilization of MRLC by saposin-like protein (CNPY2/MSAP) and reducing CNPY2-stimulated neurite outgrowth. Acts as a sterol-dependent inhibitor of cellular cholesterol uptake by mediating ubiquitination and subsequent degradation of LDLR.',NULL,NULL,NULL,NULL,NULL),(17192,'UniProt Function',NULL,20382,NULL,'Has most probably lost the function in masticatory muscles contraction suspected for its homologs in dog (AC F1PT61) and apes.',NULL,NULL,NULL,NULL,NULL),(17193,'UniProt Function',NULL,20384,NULL,'May play a role in spermatogenesis. May be involved in synaptic processes (By similarity).',NULL,NULL,NULL,NULL,NULL),(17194,'UniProt Function',NULL,20385,NULL,'Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Involved in glucose transporter recycling in response to insulin by regulating movement of intracellular GLUT4-containing vesicles to the plasma membrane. Component of the hair cell\'s (the sensory cells of the inner ear) adaptation-motor complex. Acts as a mediator of adaptation of mechanoelectrical transduction in stereocilia of vestibular hair cells. Binds phosphoinositides and links the actin cytoskeleton to cellular membranes.',NULL,NULL,NULL,NULL,NULL),(17195,'UniProt Function',NULL,20385,NULL,'Isoform 3 is involved in regulation of transcription. Associated with transcriptional active ribosomal genes. Appears to cooperate with the WICH chromatin-remodeling complex to facilitate transcription. Necessary for the formation of the first phosphodiester bond during transcription initiation (By similarity).',NULL,NULL,NULL,NULL,NULL),(17196,'UniProt Function',NULL,20386,NULL,'Regulatory light chain of myosin. Does not bind calcium.',NULL,NULL,NULL,NULL,NULL),(17197,'UniProt Function',NULL,20387,NULL,'Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessary for physiological and asthmatic airway resistance. Necessary for gastrointestinal motility. Implicated in the regulation of endothelial as well as vascular permeability, probably via the regulation of cytoskeletal rearrangements. In the nervous system it has been shown to control the growth initiation of astrocytic processes in culture and to participate in transmitter release at synapses formed between cultured sympathetic ganglion cells. Critical participant in signaling sequences that result in fibroblast apoptosis. Plays a role in the regulation of epithelial cell survival. Required for epithelial wound healing, especially during actomyosin ring contraction during purse-string wound closure. Mediates RhoA-dependent membrane blebbing. Triggers TRPC5 channel activity in a calcium-dependent signaling, by inducing its subcellular localization at the plasma membrane. Promotes cell migration (including tumor cells) and tumor metastasis. PTK2B/PYK2 activation by phosphorylation mediates ITGB2 activation and is thus essential to trigger neutrophil transmigration during acute lung injury (ALI). May regulate optic nerve head astrocyte migration. Probably involved in mitotic cytoskeletal regulation. Regulates tight junction probably by modulating ZO-1 exchange in the perijunctional actomyosin ring. Mediates burn-induced microvascular barrier injury; triggers endothelial contraction in the development of microvascular hyperpermeability by phosphorylating MLC. Essential for intestinal barrier dysfunction. Mediates Giardia spp.-mediated reduced epithelial barrier function during giardiasis intestinal infection via reorganization of cytoskeletal F-actin and tight junctional ZO-1. Necessary for hypotonicity-induced Ca(2+) entry and subsequent activation of volume-sensitive organic osmolyte/anion channels (VSOAC) in cervical cancer cells. Responsible for high proliferative ability of breast cancer cells through anti-apoptosis.',NULL,NULL,NULL,NULL,NULL),(17198,'UniProt Function',NULL,20389,NULL,'Myelin regulatory factor: Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous system (CNS) myelin genes (PubMed:23966832).',NULL,NULL,NULL,NULL,NULL),(17199,'UniProt Function',NULL,20389,NULL,'Myelin regulatory factor, C-terminal: Membrane-bound part that has no transcription factor activity and remains attached to the endoplasmic reticulum membrane following cleavage.',NULL,NULL,NULL,NULL,NULL),(17200,'UniProt Function',NULL,20389,NULL,'Myelin regulatory factor, N-terminal: Transcription factor that specifically activates expression of myelin genes such as MBP, MOG, MAG, DUSP15 and PLP1 during oligodendrocyte (OL) maturation, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Specifically recognizes and binds DNA sequence 5\'-CTGGYAC-3\' in the regulatory regions of myelin-specific genes and directly activates their expression. Not only required during oligodendrocyte differentiation but is also required on an ongoing basis for the maintenance of expression of myelin genes and for the maintenance of a mature, viable oligodendrocyte phenotype (PubMed:23966832).',NULL,NULL,NULL,NULL,NULL),(17201,'UniProt Function',NULL,20390,NULL,'Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring protein (AKAP). May act as a scaffolding protein that links PKA to components of the exocytosis machinery, thus facilitating exocytosis, including insulin release (By similarity).',NULL,NULL,NULL,NULL,NULL),(17202,'UniProt Function',NULL,20391,NULL,'Functions as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes (By similarity).',NULL,NULL,NULL,NULL,NULL),(17203,'UniProt Function',NULL,20391,NULL,'Isoform 13: Participates in microtubule dynamics, promoting microtubule assembly. Depending upon the cell context, may act at the level of the Golgi apparatus or that of the centrosome (PubMed:25217626, PubMed:27666745, PubMed:28814570, PubMed:29162697). In complex with AKAP9, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with AKAP9, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension from the centrosome to the cell periphery, a crucial process for directed cell migration, mitotic spindle orientation and cell-cycle progression (PubMed:29162697).',NULL,NULL,NULL,NULL,NULL),(17204,'UniProt Function',NULL,20392,NULL,'Serine/threonine kinase which acts as a master kinase, phosphorylating and activating a subgroup of the AGC family of protein kinases. Its targets include: protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), p70 ribosomal protein S6 kinase (RPS6KB1), p90 ribosomal protein S6 kinase (RPS6KA1, RPS6KA2 and RPS6KA3), cyclic AMP-dependent protein kinase (PRKACA), protein kinase C (PRKCD and PRKCZ), serum and glucocorticoid-inducible kinase (SGK1, SGK2 and SGK3), p21-activated kinase-1 (PAK1), protein kinase PKN (PKN1 and PKN2). Plays a central role in the transduction of signals from insulin by providing the activating phosphorylation to PKB/AKT1, thus propagating the signal to downstream targets controlling cell proliferation and survival, as well as glucose and amino acid uptake and storage. Negatively regulates the TGF-beta-induced signaling by: modulating the association of SMAD3 and SMAD7 with TGF-beta receptor, phosphorylating SMAD2, SMAD3, SMAD4 and SMAD7, preventing the nuclear translocation of SMAD3 and SMAD4 and the translocation of SMAD7 from the nucleus to the cytoplasm in response to TGF-beta. Activates PPARG transcriptional activity and promotes adipocyte differentiation. Activates the NF-kappa-B pathway via phosphorylation of IKKB. The tyrosine phosphorylated form is crucial for the regulation of focal adhesions by angiotensin II. Controls proliferation, survival, and growth of developing pancreatic cells. Participates in the regulation of Ca(2+) entry and Ca(2+)-activated K(+) channels of mast cells. Essential for the motility of vascular endothelial cells (ECs) and is involved in the regulation of their chemotaxis. Plays a critical role in cardiac homeostasis by serving as a dual effector for cell survival and beta-adrenergic response. Plays an important role during thymocyte development by regulating the expression of key nutrient receptors on the surface of pre-T cells and mediating Notch-induced cell growth and proliferative responses. Provides negative feedback inhibition to toll-like receptor-mediated NF-kappa-B activation in macrophages. Isoform 3 is catalytically inactive.',NULL,NULL,NULL,NULL,NULL),(17205,'UniProt Function',NULL,20393,NULL,'Phosphorylates and activates not only PKB/AKT, but also PKA, PKC-zeta, RPS6KA1 and RPS6KB1. May play a general role in signaling processes and in development (By similarity).',NULL,NULL,NULL,NULL,NULL),(17206,'UniProt Function',NULL,20394,NULL,'May play a role in chaperone-mediated protein folding.',NULL,NULL,NULL,NULL,NULL),(17207,'UniProt Function',NULL,20395,NULL,'Probable regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair.',NULL,NULL,NULL,NULL,NULL),(17208,'UniProt Function',NULL,20396,NULL,'Unknown, due to the absence of a functional motor domain.',NULL,NULL,NULL,NULL,NULL),(17209,'UniProt Function',NULL,20397,NULL,'Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response (PubMed:15361868, PubMed:18292575). Acts via IRAK1, IRAK2, IRF7 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:15361868, PubMed:24316379, PubMed:19506249). Increases IL-8 transcription (PubMed:9013863). Involved in IL-18-mediated signaling pathway. Activates IRF1 resulting in its rapid migration into the nucleus to mediate an efficient induction of IFN-beta, NOS2/INOS, and IL12A genes. MyD88-mediated signaling in intestinal epithelial cells is crucial for maintenance of gut homeostasis and controls the expression of the antimicrobial lectin REG3G in the small intestine (By similarity).',NULL,NULL,NULL,NULL,NULL),(17210,'UniProt Function',NULL,20398,NULL,'May function as a scaffold on which the coordinated assembly of proteins can occur. May play a role as an adapter that, via its PDZ domain, localizes LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Involved in both of the two fundamental mechanisms of bone formation, direct bone formation (e.g. embryonic flat bones mandible and cranium), and endochondral bone formation (e.g. embryonic long bone development). Plays a role during fracture repair. Involved in BMP6 signaling pathway (By similarity).',NULL,NULL,NULL,NULL,NULL),(17211,'UniProt Function',NULL,20399,NULL,'Interferon-induced dynamin-like GTPase with potent antiviral activity against human immunodeficiency virus type 1 (HIV-1). Acts by targeting the viral capsid and affects the nuclear uptake and/or stability of the HIV-1 replication complex and the subsequent chromosomal integration of the proviral DNA. Exhibits antiviral activity also against simian immunodeficiency virus (SIV-mnd). May play a role in regulating nucleocytoplasmic transport and cell-cycle progression.',NULL,NULL,NULL,NULL,NULL),(17212,'UniProt Function',NULL,20400,NULL,'Muscle contraction.',NULL,NULL,NULL,NULL,NULL),(17213,'UniProt Function',NULL,20401,NULL,'Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. May be involved in targeting of the catalytic subunit of protein phosphatase 1 during brain development. Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis (By similarity).',NULL,NULL,NULL,NULL,NULL),(17214,'UniProt Function',NULL,20402,NULL,'Motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport.',NULL,NULL,NULL,NULL,NULL),(17215,'UniProt Function',NULL,20403,NULL,'Muscle contraction.',NULL,NULL,NULL,NULL,NULL),(17216,'UniProt Function',NULL,20404,NULL,'Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells. May act as a regulator of F-actin dynamics. May play a role in transporting DAB2 from the plasma membrane to specific cellular targets. Required for structural integrity of inner ear hair cells (By similarity).',NULL,NULL,NULL,NULL,NULL),(17217,'UniProt Function',NULL,20405,NULL,'The ubiquitous expression and the conservation of the sequence in distant animal species suggest that the gene codes for a protein with housekeeping functions.',NULL,NULL,NULL,NULL,NULL),(17218,'UniProt Function',NULL,20406,NULL,'Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.',NULL,NULL,NULL,NULL,NULL),(17219,'UniProt Function',NULL,20407,NULL,'Regulatory subunit of serine/threonine-protein phosphatase 4. May regulate the activity of PPP4C at centrosomal microtubule organizing centers. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on \'Ser-140\' (gamma-H2AFX) generated during DNA replication and required for DNA DSB repair.',NULL,NULL,NULL,NULL,NULL),(17220,'UniProt Function',NULL,20408,NULL,'High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity.',NULL,NULL,NULL,NULL,NULL),(17221,'UniProt Function',NULL,20410,NULL,'Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5\'-CACGTG-3\' (By similarity).',NULL,NULL,NULL,NULL,NULL),(17222,'UniProt Function',NULL,20411,NULL,'Required for proper homologous chromosome pairing and efficient cross-over and intragenic recombination during meiosis (By similarity). Stimulates both DMC1- and RAD51-mediated homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks.',NULL,NULL,NULL,NULL,NULL),(17223,'UniProt Function',NULL,20412,NULL,'Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils. Required for normal hydroxylation of lysine residues in type I collagen chains in skin, bone, tendon, aorta and cornea. Required for normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly. Apparently not required for normal prolyl 3-hydroxylation on collagen chains, possibly because it functions redundantly with other prolyl 3-hydroxylases.',NULL,NULL,NULL,NULL,NULL),(17224,'NCBI Gene Summary',NULL,1,NULL,'This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(17225,'NCBI Gene PubMed Count',NULL,1,NULL,NULL,NULL,78,NULL,NULL,NULL),(17226,'NCBI Gene PubMed Count',NULL,2,NULL,NULL,NULL,1,NULL,NULL,NULL),(17227,'NCBI Gene Summary',NULL,3,NULL,'This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(17228,'NCBI Gene PubMed Count',NULL,3,NULL,NULL,NULL,7,NULL,NULL,NULL),(17229,'NCBI Gene Summary',NULL,4,NULL,'This gene encodes a CGG repeat-binding protein that primarily localizes to the nucleus. CGG trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-regulatory elements, can produce hairpin structures which cause DNA replication errors, and form regions prone to chromosomal breakage. CGG repeats are also targets for CpG methylation. In addition to its ability to bind CGG repeats and regulate transcription, this gene is believed to play a role in DNA damage repair and telomere protection. In vitro studies indicate this protein does not bind to methylated CpG sequences. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(17230,'NCBI Gene PubMed Count',NULL,4,NULL,NULL,NULL,27,NULL,NULL,NULL),(17231,'NCBI Gene PubMed Count',NULL,5,NULL,NULL,NULL,6,NULL,NULL,NULL),(17232,'NCBI Gene Summary',NULL,6,NULL,'The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains.  CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17233,'NCBI Gene PubMed Count',NULL,6,NULL,NULL,NULL,44,NULL,NULL,NULL),(17234,'NCBI Gene PubMed Count',NULL,7,NULL,NULL,NULL,13,NULL,NULL,NULL),(17235,'NCBI Gene Summary',NULL,8,NULL,'This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17236,'NCBI Gene PubMed Count',NULL,8,NULL,NULL,NULL,29,NULL,NULL,NULL),(17237,'NCBI Gene Summary',NULL,9,NULL,'The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(17238,'NCBI Gene PubMed Count',NULL,9,NULL,NULL,NULL,13,NULL,NULL,NULL),(17239,'NCBI Gene PubMed Count',NULL,10,NULL,NULL,NULL,5,NULL,NULL,NULL),(17240,'NCBI Gene PubMed Count',NULL,11,NULL,NULL,NULL,5,NULL,NULL,NULL),(17241,'NCBI Gene PubMed Count',NULL,12,NULL,NULL,NULL,12,NULL,NULL,NULL),(17242,'NCBI Gene Summary',NULL,13,NULL,'Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17243,'NCBI Gene PubMed Count',NULL,13,NULL,NULL,NULL,25,NULL,NULL,NULL),(17244,'NCBI Gene PubMed Count',NULL,14,NULL,NULL,NULL,6,NULL,NULL,NULL),(17245,'NCBI Gene Summary',NULL,15,NULL,'The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17246,'NCBI Gene PubMed Count',NULL,15,NULL,NULL,NULL,97,NULL,NULL,NULL),(17247,'NCBI Gene Summary',NULL,16,NULL,'CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17248,'NCBI Gene PubMed Count',NULL,16,NULL,NULL,NULL,22,NULL,NULL,NULL),(17249,'NCBI Gene Summary',NULL,17,NULL,'This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(17250,'NCBI Gene PubMed Count',NULL,17,NULL,NULL,NULL,13,NULL,NULL,NULL),(17251,'NCBI Gene PubMed Count',NULL,18,NULL,NULL,NULL,10,NULL,NULL,NULL),(17252,'NCBI Gene PubMed Count',NULL,19,NULL,NULL,NULL,5,NULL,NULL,NULL),(17253,'NCBI Gene Summary',NULL,20,NULL,'This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(17254,'NCBI Gene PubMed Count',NULL,20,NULL,NULL,NULL,30,NULL,NULL,NULL),(17255,'NCBI Gene PubMed Count',NULL,21,NULL,NULL,NULL,12,NULL,NULL,NULL),(17256,'NCBI Gene PubMed Count',NULL,22,NULL,NULL,NULL,10,NULL,NULL,NULL),(17257,'NCBI Gene Summary',NULL,23,NULL,'Cnpy1 is expressed in the midbrain-hindbrain (MHB) boundary in zebrafish, binds FGFR1 (MIM 136350), and plays a role in FGF signaling (Hirate and Okamoto, 2006 [PubMed 16488878]).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(17258,'NCBI Gene PubMed Count',NULL,23,NULL,NULL,NULL,5,NULL,NULL,NULL),(17259,'NCBI Gene Summary',NULL,24,NULL,'This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(17260,'NCBI Gene PubMed Count',NULL,24,NULL,NULL,NULL,25,NULL,NULL,NULL),(17261,'NCBI Gene PubMed Count',NULL,25,NULL,NULL,NULL,16,NULL,NULL,NULL),(17262,'NCBI Gene Summary',NULL,26,NULL,'Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(17263,'NCBI Gene PubMed Count',NULL,26,NULL,NULL,NULL,15,NULL,NULL,NULL),(17264,'NCBI Gene Summary',NULL,27,NULL,'This gene encodes a member of the type 1 cytokine receptor family. The encoded protein is the ligand-specific component of a tripartite receptor for ciliary neurotrophic factor, which plays a critical role in neuronal cell survival, differentiation and gene expression. Binding of ciliary neurotrophic factor to the encoded protein recruits the transmembrane components of the receptor, gp130 and leukemia inhibitory factor receptor, facilitating signal transduction. Single nucleotide polymorphisms in this gene may be associated with variations in muscle strength, as well as early onset of eating disorders. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(17265,'NCBI Gene PubMed Count',NULL,27,NULL,NULL,NULL,44,NULL,NULL,NULL),(17266,'NCBI Gene PubMed Count',NULL,28,NULL,NULL,NULL,16,NULL,NULL,NULL),(17267,'NCBI Gene PubMed Count',NULL,29,NULL,NULL,NULL,4,NULL,NULL,NULL),(17268,'NCBI Gene PubMed Count',NULL,30,NULL,NULL,NULL,2,NULL,NULL,NULL),(17269,'NCBI Gene PubMed Count',NULL,31,NULL,NULL,NULL,0,NULL,NULL,NULL),(17270,'NCBI Gene Summary',NULL,32,NULL,'Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(17271,'NCBI Gene PubMed Count',NULL,32,NULL,NULL,NULL,136,NULL,NULL,NULL),(17272,'NCBI Gene Summary',NULL,33,NULL,'Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(17273,'NCBI Gene PubMed Count',NULL,33,NULL,NULL,NULL,114,NULL,NULL,NULL),(17274,'NCBI Gene Summary',NULL,34,NULL,'This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(17275,'NCBI Gene PubMed Count',NULL,34,NULL,NULL,NULL,45,NULL,NULL,NULL),(17276,'NCBI Gene Summary',NULL,35,NULL,'This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]',NULL,NULL,NULL,NULL,NULL),(17277,'NCBI Gene PubMed Count',NULL,35,NULL,NULL,NULL,231,NULL,NULL,NULL),(17278,'NCBI Gene Summary',NULL,36,NULL,'This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17279,'NCBI Gene PubMed Count',NULL,36,NULL,NULL,NULL,172,NULL,NULL,NULL),(17280,'NCBI Gene Summary',NULL,37,NULL,'This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(17281,'NCBI Gene PubMed Count',NULL,37,NULL,NULL,NULL,132,NULL,NULL,NULL),(17282,'NCBI Gene Summary',NULL,38,NULL,'This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17283,'NCBI Gene PubMed Count',NULL,38,NULL,NULL,NULL,18,NULL,NULL,NULL),(17284,'NCBI Gene Summary',NULL,39,NULL,'This gene may represent a processed pseudogene of DPH3, GeneID: 285381, because it lacks the exon/intron structure found in the functional gene. However, it does contain an intact open reading frame and it has not been established that the predicted protein is not translated. The NCBI RefSeq Project continues to treat this as a protein coding gene in agreement with Swiss-Prot. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(17285,'NCBI Gene PubMed Count',NULL,39,NULL,NULL,NULL,2,NULL,NULL,NULL),(17286,'NCBI Gene Summary',NULL,40,NULL,'This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(17287,'NCBI Gene PubMed Count',NULL,40,NULL,NULL,NULL,69,NULL,NULL,NULL),(17288,'NCBI Gene PubMed Count',NULL,41,NULL,NULL,NULL,8,NULL,NULL,NULL),(17289,'NCBI Gene Summary',NULL,42,NULL,'This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(17290,'NCBI Gene PubMed Count',NULL,42,NULL,NULL,NULL,61,NULL,NULL,NULL),(17291,'NCBI Gene PubMed Count',NULL,43,NULL,NULL,NULL,11,NULL,NULL,NULL),(17292,'NCBI Gene Summary',NULL,44,NULL,'Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(17293,'NCBI Gene PubMed Count',NULL,44,NULL,NULL,NULL,9,NULL,NULL,NULL),(17294,'NCBI Gene Summary',NULL,45,NULL,'Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4\'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(17295,'NCBI Gene PubMed Count',NULL,45,NULL,NULL,NULL,30,NULL,NULL,NULL),(17296,'NCBI Gene PubMed Count',NULL,46,NULL,NULL,NULL,1,NULL,NULL,NULL),(17297,'NCBI Gene PubMed Count',NULL,47,NULL,NULL,NULL,7,NULL,NULL,NULL),(17298,'NCBI Gene PubMed Count',NULL,48,NULL,NULL,NULL,3,NULL,NULL,NULL),(17299,'NCBI Gene PubMed Count',NULL,49,NULL,NULL,NULL,7,NULL,NULL,NULL),(17300,'NCBI Gene PubMed Count',NULL,50,NULL,NULL,NULL,2,NULL,NULL,NULL),(17301,'NCBI Gene Summary',NULL,51,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17302,'NCBI Gene PubMed Count',NULL,51,NULL,NULL,NULL,52,NULL,NULL,NULL),(17303,'NCBI Gene Summary',NULL,52,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(17304,'NCBI Gene PubMed Count',NULL,52,NULL,NULL,NULL,119,NULL,NULL,NULL),(17305,'NCBI Gene Summary',NULL,53,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme\'s endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3\' untranslated region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17306,'NCBI Gene PubMed Count',NULL,53,NULL,NULL,NULL,460,NULL,NULL,NULL),(17307,'NCBI Gene Summary',NULL,54,NULL,'The protein encoded by this gene is one subunit of a cleavage factor required for 3\' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3\' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17308,'NCBI Gene PubMed Count',NULL,54,NULL,NULL,NULL,48,NULL,NULL,NULL),(17309,'NCBI Gene Summary',NULL,55,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17310,'NCBI Gene PubMed Count',NULL,55,NULL,NULL,NULL,93,NULL,NULL,NULL),(17311,'NCBI Gene Summary',NULL,56,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17312,'NCBI Gene PubMed Count',NULL,56,NULL,NULL,NULL,517,NULL,NULL,NULL),(17313,'NCBI Gene Summary',NULL,57,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17314,'NCBI Gene PubMed Count',NULL,57,NULL,NULL,NULL,10,NULL,NULL,NULL),(17315,'NCBI Gene Summary',NULL,58,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme\'s substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(17316,'NCBI Gene PubMed Count',NULL,58,NULL,NULL,NULL,949,NULL,NULL,NULL),(17317,'NCBI Gene Summary',NULL,59,NULL,'Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease \'zonular cataract with sutural opacities\'. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17318,'NCBI Gene PubMed Count',NULL,59,NULL,NULL,NULL,48,NULL,NULL,NULL),(17319,'NCBI Gene Summary',NULL,60,NULL,'This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(17320,'NCBI Gene PubMed Count',NULL,60,NULL,NULL,NULL,23,NULL,NULL,NULL),(17321,'NCBI Gene Summary',NULL,61,NULL,'Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17322,'NCBI Gene PubMed Count',NULL,61,NULL,NULL,NULL,55,NULL,NULL,NULL),(17323,'NCBI Gene PubMed Count',NULL,62,NULL,NULL,NULL,6,NULL,NULL,NULL),(17324,'NCBI Gene Summary',NULL,63,NULL,'This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer\'s disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(17325,'NCBI Gene PubMed Count',NULL,63,NULL,NULL,NULL,27,NULL,NULL,NULL),(17326,'NCBI Gene PubMed Count',NULL,64,NULL,NULL,NULL,11,NULL,NULL,NULL),(17327,'NCBI Gene PubMed Count',NULL,65,NULL,NULL,NULL,14,NULL,NULL,NULL),(17328,'NCBI Gene Summary',NULL,66,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to mouse cystatin 9. Based on its testis-specific expression, it is likely to have a role in tissue reorganization during early testis development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17329,'NCBI Gene PubMed Count',NULL,66,NULL,NULL,NULL,15,NULL,NULL,NULL),(17330,'NCBI Gene PubMed Count',NULL,67,NULL,NULL,NULL,3,NULL,NULL,NULL),(17331,'NCBI Gene Summary',NULL,68,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted protein that may play a role in hematopoietic differentiation or inflammation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17332,'NCBI Gene PubMed Count',NULL,68,NULL,NULL,NULL,7,NULL,NULL,NULL),(17333,'NCBI Gene PubMed Count',NULL,69,NULL,NULL,NULL,8,NULL,NULL,NULL),(17334,'NCBI Gene PubMed Count',NULL,70,NULL,NULL,NULL,8,NULL,NULL,NULL),(17335,'NCBI Gene PubMed Count',NULL,71,NULL,NULL,NULL,2,NULL,NULL,NULL),(17336,'NCBI Gene Summary',NULL,72,NULL,'The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(17337,'NCBI Gene PubMed Count',NULL,72,NULL,NULL,NULL,30,NULL,NULL,NULL),(17338,'NCBI Gene Summary',NULL,73,NULL,'CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(17339,'NCBI Gene PubMed Count',NULL,73,NULL,NULL,NULL,15,NULL,NULL,NULL),(17340,'NCBI Gene PubMed Count',NULL,74,NULL,NULL,NULL,9,NULL,NULL,NULL),(17341,'NCBI Gene Summary',NULL,75,NULL,'This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(17342,'NCBI Gene PubMed Count',NULL,75,NULL,NULL,NULL,15,NULL,NULL,NULL),(17343,'NCBI Gene PubMed Count',NULL,76,NULL,NULL,NULL,32,NULL,NULL,NULL),(17344,'NCBI Gene PubMed Count',NULL,77,NULL,NULL,NULL,7,NULL,NULL,NULL),(17345,'NCBI Gene Summary',NULL,78,NULL,'The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(17346,'NCBI Gene PubMed Count',NULL,78,NULL,NULL,NULL,492,NULL,NULL,NULL),(17347,'NCBI Gene Summary',NULL,79,NULL,'The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(17348,'NCBI Gene PubMed Count',NULL,79,NULL,NULL,NULL,23,NULL,NULL,NULL),(17349,'NCBI Gene Summary',NULL,80,NULL,'This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17350,'NCBI Gene PubMed Count',NULL,80,NULL,NULL,NULL,14,NULL,NULL,NULL),(17351,'NCBI Gene PubMed Count',NULL,81,NULL,NULL,NULL,6,NULL,NULL,NULL),(17352,'NCBI Gene Summary',NULL,84,NULL,'CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(17353,'NCBI Gene PubMed Count',NULL,84,NULL,NULL,NULL,5,NULL,NULL,NULL),(17354,'NCBI Gene PubMed Count',NULL,85,NULL,NULL,NULL,10,NULL,NULL,NULL),(17355,'NCBI Gene PubMed Count',NULL,86,NULL,NULL,NULL,40,NULL,NULL,NULL),(17356,'NCBI Gene PubMed Count',NULL,87,NULL,NULL,NULL,7,NULL,NULL,NULL),(17357,'NCBI Gene PubMed Count',NULL,88,NULL,NULL,NULL,2,NULL,NULL,NULL),(17358,'NCBI Gene PubMed Count',NULL,89,NULL,NULL,NULL,16,NULL,NULL,NULL),(17359,'NCBI Gene PubMed Count',NULL,90,NULL,NULL,NULL,2,NULL,NULL,NULL),(17360,'NCBI Gene PubMed Count',NULL,91,NULL,NULL,NULL,6,NULL,NULL,NULL),(17361,'NCBI Gene PubMed Count',NULL,92,NULL,NULL,NULL,1,NULL,NULL,NULL),(17362,'NCBI Gene PubMed Count',NULL,93,NULL,NULL,NULL,2,NULL,NULL,NULL),(17363,'NCBI Gene Summary',NULL,94,NULL,'Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17364,'NCBI Gene PubMed Count',NULL,94,NULL,NULL,NULL,82,NULL,NULL,NULL),(17365,'NCBI Gene PubMed Count',NULL,95,NULL,NULL,NULL,1,NULL,NULL,NULL),(17366,'NCBI Gene PubMed Count',NULL,96,NULL,NULL,NULL,2,NULL,NULL,NULL),(17367,'NCBI Gene PubMed Count',NULL,97,NULL,NULL,NULL,18,NULL,NULL,NULL),(17368,'NCBI Gene Summary',NULL,98,NULL,'This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(17369,'NCBI Gene PubMed Count',NULL,98,NULL,NULL,NULL,167,NULL,NULL,NULL),(17370,'NCBI Gene Summary',NULL,99,NULL,'The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(17371,'NCBI Gene PubMed Count',NULL,99,NULL,NULL,NULL,91,NULL,NULL,NULL),(17372,'NCBI Gene PubMed Count',NULL,100,NULL,NULL,NULL,6,NULL,NULL,NULL),(17373,'NCBI Gene Summary',NULL,101,NULL,'This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(17374,'NCBI Gene PubMed Count',NULL,101,NULL,NULL,NULL,18,NULL,NULL,NULL),(17375,'NCBI Gene Summary',NULL,102,NULL,'This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17376,'NCBI Gene PubMed Count',NULL,102,NULL,NULL,NULL,158,NULL,NULL,NULL),(17377,'NCBI Gene Summary',NULL,103,NULL,'Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17378,'NCBI Gene PubMed Count',NULL,103,NULL,NULL,NULL,9,NULL,NULL,NULL),(17379,'NCBI Gene Summary',NULL,104,NULL,'Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(17380,'NCBI Gene PubMed Count',NULL,104,NULL,NULL,NULL,19,NULL,NULL,NULL),(17381,'NCBI Gene Summary',NULL,105,NULL,'Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17382,'NCBI Gene PubMed Count',NULL,105,NULL,NULL,NULL,2,NULL,NULL,NULL),(17383,'NCBI Gene Summary',NULL,106,NULL,'This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(17384,'NCBI Gene PubMed Count',NULL,106,NULL,NULL,NULL,67,NULL,NULL,NULL),(17385,'NCBI Gene Summary',NULL,107,NULL,'This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17386,'NCBI Gene PubMed Count',NULL,107,NULL,NULL,NULL,87,NULL,NULL,NULL),(17387,'NCBI Gene Summary',NULL,108,NULL,'Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17388,'NCBI Gene PubMed Count',NULL,108,NULL,NULL,NULL,150,NULL,NULL,NULL),(17389,'NCBI Gene Summary',NULL,109,NULL,'This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(17390,'NCBI Gene PubMed Count',NULL,109,NULL,NULL,NULL,45,NULL,NULL,NULL),(17391,'NCBI Gene Summary',NULL,110,NULL,'This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(17392,'NCBI Gene PubMed Count',NULL,110,NULL,NULL,NULL,209,NULL,NULL,NULL),(17393,'NCBI Gene PubMed Count',NULL,111,NULL,NULL,NULL,50,NULL,NULL,NULL),(17394,'NCBI Gene Summary',NULL,112,NULL,'The protein encoded by this gene is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by synovial cells. The protein also is an antimicrobial protein with bactericidal and antifungal activity. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(17395,'NCBI Gene PubMed Count',NULL,112,NULL,NULL,NULL,96,NULL,NULL,NULL),(17396,'NCBI Gene Summary',NULL,113,NULL,'This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17397,'NCBI Gene PubMed Count',NULL,113,NULL,NULL,NULL,64,NULL,NULL,NULL),(17398,'NCBI Gene Summary',NULL,114,NULL,'Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17399,'NCBI Gene PubMed Count',NULL,114,NULL,NULL,NULL,6,NULL,NULL,NULL),(17400,'NCBI Gene Summary',NULL,115,NULL,'The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(17401,'NCBI Gene PubMed Count',NULL,115,NULL,NULL,NULL,330,NULL,NULL,NULL),(17402,'NCBI Gene PubMed Count',NULL,116,NULL,NULL,NULL,3,NULL,NULL,NULL),(17403,'NCBI Gene Summary',NULL,117,NULL,'This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17404,'NCBI Gene PubMed Count',NULL,117,NULL,NULL,NULL,1391,NULL,NULL,NULL),(17405,'NCBI Gene Summary',NULL,118,NULL,'The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(17406,'NCBI Gene PubMed Count',NULL,118,NULL,NULL,NULL,63,NULL,NULL,NULL),(17407,'NCBI Gene PubMed Count',NULL,119,NULL,NULL,NULL,17,NULL,NULL,NULL),(17408,'NCBI Gene Summary',NULL,120,NULL,'The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17409,'NCBI Gene PubMed Count',NULL,120,NULL,NULL,NULL,42,NULL,NULL,NULL),(17410,'NCBI Gene PubMed Count',NULL,121,NULL,NULL,NULL,1,NULL,NULL,NULL),(17411,'NCBI Gene PubMed Count',NULL,122,NULL,NULL,NULL,1,NULL,NULL,NULL),(17412,'NCBI Gene PubMed Count',NULL,123,NULL,NULL,NULL,7,NULL,NULL,NULL),(17413,'NCBI Gene Summary',NULL,124,NULL,'Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(17414,'NCBI Gene PubMed Count',NULL,124,NULL,NULL,NULL,17,NULL,NULL,NULL),(17415,'NCBI Gene Summary',NULL,125,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(17416,'NCBI Gene PubMed Count',NULL,125,NULL,NULL,NULL,204,NULL,NULL,NULL),(17417,'NCBI Gene Summary',NULL,126,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(17418,'NCBI Gene PubMed Count',NULL,126,NULL,NULL,NULL,112,NULL,NULL,NULL),(17419,'NCBI Gene PubMed Count',NULL,127,NULL,NULL,NULL,7,NULL,NULL,NULL),(17420,'NCBI Gene PubMed Count',NULL,128,NULL,NULL,NULL,2,NULL,NULL,NULL),(17421,'NCBI Gene Summary',NULL,129,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17422,'NCBI Gene PubMed Count',NULL,129,NULL,NULL,NULL,31,NULL,NULL,NULL),(17423,'NCBI Gene Summary',NULL,130,NULL,'The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17424,'NCBI Gene PubMed Count',NULL,130,NULL,NULL,NULL,20,NULL,NULL,NULL),(17425,'NCBI Gene Summary',NULL,131,NULL,'This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(17426,'NCBI Gene PubMed Count',NULL,131,NULL,NULL,NULL,22,NULL,NULL,NULL),(17427,'NCBI Gene Summary',NULL,132,NULL,'This gene encodes a member of the type I cytokine receptor family. The encoded protein is a receptor for thymic stromal lymphopoietin (TSLP). Together with the interleukin 7 receptor (IL7R), the encoded protein and TSLP activate STAT3, STAT5, and JAK2 pathways, which control processes such as cell proliferation and development of the hematopoietic system. Rearrangement of this gene with immunoglobulin heavy chain gene (IGH) on chromosome 14, or with P2Y purinoceptor 8 gene (P2RY8) on the same X or Y chromosomes is associated with B-progenitor acute lymphoblastic leukemia (ALL) and Down syndrome ALL. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(17428,'NCBI Gene PubMed Count',NULL,132,NULL,NULL,NULL,62,NULL,NULL,NULL),(17429,'NCBI Gene PubMed Count',NULL,133,NULL,NULL,NULL,42,NULL,NULL,NULL),(17430,'NCBI Gene Summary',NULL,134,NULL,'This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17431,'NCBI Gene PubMed Count',NULL,134,NULL,NULL,NULL,62,NULL,NULL,NULL),(17432,'NCBI Gene Summary',NULL,135,NULL,'The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17433,'NCBI Gene PubMed Count',NULL,135,NULL,NULL,NULL,84,NULL,NULL,NULL),(17434,'NCBI Gene PubMed Count',NULL,136,NULL,NULL,NULL,8,NULL,NULL,NULL),(17435,'NCBI Gene PubMed Count',NULL,137,NULL,NULL,NULL,8,NULL,NULL,NULL),(17436,'NCBI Gene Summary',NULL,138,NULL,'Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17437,'NCBI Gene PubMed Count',NULL,138,NULL,NULL,NULL,110,NULL,NULL,NULL),(17438,'NCBI Gene Summary',NULL,139,NULL,'The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17439,'NCBI Gene PubMed Count',NULL,139,NULL,NULL,NULL,66,NULL,NULL,NULL),(17440,'NCBI Gene Summary',NULL,140,NULL,'The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(17441,'NCBI Gene PubMed Count',NULL,140,NULL,NULL,NULL,124,NULL,NULL,NULL),(17442,'NCBI Gene PubMed Count',NULL,141,NULL,NULL,NULL,10,NULL,NULL,NULL),(17443,'NCBI Gene Summary',NULL,142,NULL,'This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(17444,'NCBI Gene PubMed Count',NULL,142,NULL,NULL,NULL,11,NULL,NULL,NULL),(17445,'NCBI Gene Summary',NULL,143,NULL,'The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17446,'NCBI Gene PubMed Count',NULL,143,NULL,NULL,NULL,54,NULL,NULL,NULL),(17447,'NCBI Gene Summary',NULL,144,NULL,'This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(17448,'NCBI Gene PubMed Count',NULL,144,NULL,NULL,NULL,24,NULL,NULL,NULL),(17449,'NCBI Gene Summary',NULL,145,NULL,'The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17450,'NCBI Gene PubMed Count',NULL,145,NULL,NULL,NULL,112,NULL,NULL,NULL),(17451,'NCBI Gene Summary',NULL,146,NULL,'This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(17452,'NCBI Gene PubMed Count',NULL,146,NULL,NULL,NULL,115,NULL,NULL,NULL),(17453,'NCBI Gene PubMed Count',NULL,147,NULL,NULL,NULL,26,NULL,NULL,NULL),(17454,'NCBI Gene PubMed Count',NULL,148,NULL,NULL,NULL,2,NULL,NULL,NULL),(17455,'NCBI Gene Summary',NULL,149,NULL,'This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(17456,'NCBI Gene PubMed Count',NULL,149,NULL,NULL,NULL,131,NULL,NULL,NULL),(17457,'NCBI Gene Summary',NULL,150,NULL,'CUL4A is the ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(17458,'NCBI Gene PubMed Count',NULL,150,NULL,NULL,NULL,122,NULL,NULL,NULL),(17459,'NCBI Gene Summary',NULL,151,NULL,'Members of the CUT family of copper transporters are associated with copper homeostasis and are involved in the uptake, storage, delivery, and efflux of copper (Gupta et al., 1995 [PubMed 7635807]; Li et al., 2005 [PubMed 16182249]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17460,'NCBI Gene PubMed Count',NULL,151,NULL,NULL,NULL,17,NULL,NULL,NULL),(17461,'NCBI Gene Summary',NULL,152,NULL,'This gene encodes a protein which contains three CUT domains and a homeodomain; both domains are DNA-binding motifs. A similar gene, whose gene product possesses different DNA-binding activities, is located on chromosome on chromosome 7. Two pseudogenes of this gene have been identified on chromosomes 10 and 4. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(17462,'NCBI Gene PubMed Count',NULL,152,NULL,NULL,NULL,17,NULL,NULL,NULL),(17463,'NCBI Gene Summary',NULL,153,NULL,'This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CXC subfamily, is expressed at sites of inflammation and may suppress hematopoietic progenitor cell proliferation. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(17464,'NCBI Gene PubMed Count',NULL,153,NULL,NULL,NULL,82,NULL,NULL,NULL),(17465,'NCBI Gene Summary',NULL,154,NULL,'This gene encodes a protein that is a member of the CXC subfamily of chemokines. Chemokines, which recruit and activate leukocytes, are classified by function (inflammatory or homeostatic) or by structure. This protein is proposed to bind the G-protein coupled receptor chemokine (C-X-C motif) receptor 2 to recruit neutrophils, to promote angiogenesis and to remodel connective tissues. This protein is thought to play a role in cancer cell proliferation, migration, and invasion. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(17466,'NCBI Gene PubMed Count',NULL,154,NULL,NULL,NULL,121,NULL,NULL,NULL),(17467,'NCBI Gene Summary',NULL,155,NULL,'This gene encodes a multi-pass membrane protein that belongs to the CXC chemokine receptor family. It is expressed in mature B-cells and Burkitt\'s lymphoma. This cytokine receptor binds to B-lymphocyte chemoattractant (BLC), and is involved in B-cell migration into B-cell follicles of spleen and Peyer patches. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(17468,'NCBI Gene PubMed Count',NULL,155,NULL,NULL,NULL,96,NULL,NULL,NULL),(17469,'NCBI Gene Summary',NULL,156,NULL,'This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(17470,'NCBI Gene PubMed Count',NULL,156,NULL,NULL,NULL,23,NULL,NULL,NULL),(17471,'NCBI Gene Summary',NULL,157,NULL,'B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer\'s patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt\'s lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(17472,'NCBI Gene PubMed Count',NULL,157,NULL,NULL,NULL,166,NULL,NULL,NULL),(17473,'NCBI Gene Summary',NULL,158,NULL,'This antimicrobial gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(17474,'NCBI Gene PubMed Count',NULL,158,NULL,NULL,NULL,79,NULL,NULL,NULL),(17475,'NCBI Gene Summary',NULL,159,NULL,'The protein encoded by this gene is a mucosal chemokine that attracts immature dendritic cells and blood monocytes to the lungs. The encoded protein also promotes tumorigenesis through an angiogenic activity. Finally, this protein exhibits strong antimicrobial activity against E. coli, S. aureus, Salmonella, P. aeruginosa, and C. albicans. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(17476,'NCBI Gene PubMed Count',NULL,159,NULL,NULL,NULL,22,NULL,NULL,NULL),(17477,'NCBI Gene PubMed Count',NULL,160,NULL,NULL,NULL,10,NULL,NULL,NULL),(17478,'NCBI Gene PubMed Count',NULL,161,NULL,NULL,NULL,18,NULL,NULL,NULL),(17479,'NCBI Gene Summary',NULL,162,NULL,'Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell\'s respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17480,'NCBI Gene PubMed Count',NULL,162,NULL,NULL,NULL,296,NULL,NULL,NULL),(17481,'NCBI Gene Summary',NULL,163,NULL,'This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17482,'NCBI Gene PubMed Count',NULL,163,NULL,NULL,NULL,27,NULL,NULL,NULL),(17483,'NCBI Gene Summary',NULL,164,NULL,'Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17484,'NCBI Gene PubMed Count',NULL,164,NULL,NULL,NULL,17,NULL,NULL,NULL),(17485,'NCBI Gene Summary',NULL,165,NULL,'The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(17486,'NCBI Gene PubMed Count',NULL,165,NULL,NULL,NULL,15,NULL,NULL,NULL),(17487,'NCBI Gene Summary',NULL,166,NULL,'The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(17488,'NCBI Gene PubMed Count',NULL,166,NULL,NULL,NULL,8,NULL,NULL,NULL),(17489,'NCBI Gene PubMed Count',NULL,167,NULL,NULL,NULL,1,NULL,NULL,NULL),(17490,'NCBI Gene Summary',NULL,168,NULL,'This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(17491,'NCBI Gene PubMed Count',NULL,168,NULL,NULL,NULL,32,NULL,NULL,NULL),(17492,'NCBI Gene PubMed Count',NULL,169,NULL,NULL,NULL,5,NULL,NULL,NULL),(17493,'NCBI Gene Summary',NULL,170,NULL,'This gene belongs to the CEBP family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. Methylation of the promoter of this gene or mutations within the gene may be correlated with occurance of acute myeloid leukemia (AML). [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(17494,'NCBI Gene PubMed Count',NULL,170,NULL,NULL,NULL,22,NULL,NULL,NULL),(17495,'NCBI Gene Summary',NULL,171,NULL,'The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17496,'NCBI Gene PubMed Count',NULL,171,NULL,NULL,NULL,50,NULL,NULL,NULL),(17497,'NCBI Gene PubMed Count',NULL,172,NULL,NULL,NULL,6,NULL,NULL,NULL),(17498,'NCBI Gene Summary',NULL,173,NULL,'This gene encodes an enzyme that catalyzes the first glycosylation step in the biosynthesis of glycosphingolipids, which are membrane components containing lipid and sugar moieties. The product of this reaction is glucosylceramide, which is the core structure of many glycosphingolipids. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(17499,'NCBI Gene PubMed Count',NULL,173,NULL,NULL,NULL,46,NULL,NULL,NULL),(17500,'NCBI Gene Summary',NULL,174,NULL,'The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(17501,'NCBI Gene PubMed Count',NULL,174,NULL,NULL,NULL,13,NULL,NULL,NULL),(17502,'NCBI Gene Summary',NULL,175,NULL,'CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17503,'NCBI Gene PubMed Count',NULL,175,NULL,NULL,NULL,10,NULL,NULL,NULL),(17504,'NCBI Gene Summary',NULL,176,NULL,'This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17505,'NCBI Gene PubMed Count',NULL,176,NULL,NULL,NULL,46,NULL,NULL,NULL),(17506,'NCBI Gene Summary',NULL,177,NULL,'The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17507,'NCBI Gene PubMed Count',NULL,177,NULL,NULL,NULL,25,NULL,NULL,NULL),(17508,'NCBI Gene Summary',NULL,178,NULL,'This gene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(17509,'NCBI Gene PubMed Count',NULL,178,NULL,NULL,NULL,26,NULL,NULL,NULL),(17510,'NCBI Gene Summary',NULL,179,NULL,'The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(17511,'NCBI Gene PubMed Count',NULL,179,NULL,NULL,NULL,23,NULL,NULL,NULL),(17512,'NCBI Gene PubMed Count',NULL,180,NULL,NULL,NULL,2,NULL,NULL,NULL),(17513,'NCBI Gene PubMed Count',NULL,181,NULL,NULL,NULL,7,NULL,NULL,NULL),(17514,'NCBI Gene PubMed Count',NULL,182,NULL,NULL,NULL,5,NULL,NULL,NULL),(17515,'NCBI Gene PubMed Count',NULL,183,NULL,NULL,NULL,4,NULL,NULL,NULL),(17516,'NCBI Gene PubMed Count',NULL,184,NULL,NULL,NULL,1,NULL,NULL,NULL),(17517,'NCBI Gene PubMed Count',NULL,185,NULL,NULL,NULL,2,NULL,NULL,NULL),(17518,'NCBI Gene PubMed Count',NULL,187,NULL,NULL,NULL,9,NULL,NULL,NULL),(17519,'NCBI Gene Summary',NULL,188,NULL,'This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(17520,'NCBI Gene PubMed Count',NULL,188,NULL,NULL,NULL,22,NULL,NULL,NULL),(17521,'NCBI Gene Summary',NULL,189,NULL,'WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17522,'NCBI Gene PubMed Count',NULL,189,NULL,NULL,NULL,6,NULL,NULL,NULL),(17523,'NCBI Gene PubMed Count',NULL,190,NULL,NULL,NULL,3,NULL,NULL,NULL),(17524,'NCBI Gene PubMed Count',NULL,191,NULL,NULL,NULL,7,NULL,NULL,NULL),(17525,'NCBI Gene Summary',NULL,192,NULL,'This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(17526,'NCBI Gene PubMed Count',NULL,192,NULL,NULL,NULL,61,NULL,NULL,NULL),(17527,'NCBI Gene Summary',NULL,193,NULL,'This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(17528,'NCBI Gene PubMed Count',NULL,193,NULL,NULL,NULL,53,NULL,NULL,NULL),(17529,'NCBI Gene PubMed Count',NULL,194,NULL,NULL,NULL,16,NULL,NULL,NULL),(17530,'NCBI Gene Summary',NULL,195,NULL,'This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17531,'NCBI Gene PubMed Count',NULL,195,NULL,NULL,NULL,45,NULL,NULL,NULL),(17532,'NCBI Gene PubMed Count',NULL,196,NULL,NULL,NULL,11,NULL,NULL,NULL),(17533,'NCBI Gene Summary',NULL,197,NULL,'CNGA4 is a modulatory subunit of vertebrate cyclic nucleotide-gated membrane channels that transduce odorant signals (Munger et al., 2001 [PubMed 11739959]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17534,'NCBI Gene PubMed Count',NULL,197,NULL,NULL,NULL,8,NULL,NULL,NULL),(17535,'NCBI Gene PubMed Count',NULL,198,NULL,NULL,NULL,15,NULL,NULL,NULL),(17536,'NCBI Gene Summary',NULL,199,NULL,'In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(17537,'NCBI Gene PubMed Count',NULL,199,NULL,NULL,NULL,29,NULL,NULL,NULL),(17538,'NCBI Gene Summary',NULL,200,NULL,'HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17539,'NCBI Gene PubMed Count',NULL,200,NULL,NULL,NULL,337,NULL,NULL,NULL),(17540,'NCBI Gene PubMed Count',NULL,201,NULL,NULL,NULL,41,NULL,NULL,NULL),(17541,'NCBI Gene PubMed Count',NULL,202,NULL,NULL,NULL,5,NULL,NULL,NULL),(17542,'NCBI Gene Summary',NULL,203,NULL,'This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(17543,'NCBI Gene PubMed Count',NULL,203,NULL,NULL,NULL,10,NULL,NULL,NULL),(17544,'NCBI Gene PubMed Count',NULL,204,NULL,NULL,NULL,6,NULL,NULL,NULL),(17545,'NCBI Gene PubMed Count',NULL,205,NULL,NULL,NULL,32,NULL,NULL,NULL),(17546,'NCBI Gene Summary',NULL,206,NULL,'The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(17547,'NCBI Gene PubMed Count',NULL,206,NULL,NULL,NULL,22,NULL,NULL,NULL),(17548,'NCBI Gene Summary',NULL,207,NULL,'This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(17549,'NCBI Gene PubMed Count',NULL,207,NULL,NULL,NULL,433,NULL,NULL,NULL),(17550,'NCBI Gene Summary',NULL,208,NULL,'This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(17551,'NCBI Gene PubMed Count',NULL,208,NULL,NULL,NULL,111,NULL,NULL,NULL),(17552,'NCBI Gene PubMed Count',NULL,209,NULL,NULL,NULL,38,NULL,NULL,NULL),(17553,'NCBI Gene Summary',NULL,210,NULL,'This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(17554,'NCBI Gene PubMed Count',NULL,210,NULL,NULL,NULL,14,NULL,NULL,NULL),(17555,'NCBI Gene Summary',NULL,211,NULL,'This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(17556,'NCBI Gene PubMed Count',NULL,211,NULL,NULL,NULL,26,NULL,NULL,NULL),(17557,'NCBI Gene Summary',NULL,212,NULL,'This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17558,'NCBI Gene PubMed Count',NULL,212,NULL,NULL,NULL,27,NULL,NULL,NULL),(17559,'NCBI Gene PubMed Count',NULL,213,NULL,NULL,NULL,3,NULL,NULL,NULL),(17560,'NCBI Gene Summary',NULL,214,NULL,'The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(17561,'NCBI Gene PubMed Count',NULL,214,NULL,NULL,NULL,19,NULL,NULL,NULL),(17562,'NCBI Gene Summary',NULL,215,NULL,'This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(17563,'NCBI Gene PubMed Count',NULL,215,NULL,NULL,NULL,51,NULL,NULL,NULL),(17564,'NCBI Gene Summary',NULL,216,NULL,'Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(17565,'NCBI Gene PubMed Count',NULL,216,NULL,NULL,NULL,541,NULL,NULL,NULL),(17566,'NCBI Gene Summary',NULL,217,NULL,'This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17567,'NCBI Gene PubMed Count',NULL,217,NULL,NULL,NULL,55,NULL,NULL,NULL),(17568,'NCBI Gene Summary',NULL,218,NULL,'The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17569,'NCBI Gene PubMed Count',NULL,218,NULL,NULL,NULL,97,NULL,NULL,NULL),(17570,'NCBI Gene Summary',NULL,219,NULL,'This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(17571,'NCBI Gene PubMed Count',NULL,219,NULL,NULL,NULL,71,NULL,NULL,NULL),(17572,'NCBI Gene Summary',NULL,220,NULL,'This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(17573,'NCBI Gene PubMed Count',NULL,220,NULL,NULL,NULL,19,NULL,NULL,NULL),(17574,'NCBI Gene Summary',NULL,221,NULL,'This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(17575,'NCBI Gene PubMed Count',NULL,221,NULL,NULL,NULL,13,NULL,NULL,NULL),(17576,'NCBI Gene Summary',NULL,222,NULL,'This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(17577,'NCBI Gene PubMed Count',NULL,222,NULL,NULL,NULL,47,NULL,NULL,NULL),(17578,'NCBI Gene Summary',NULL,223,NULL,'This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17579,'NCBI Gene PubMed Count',NULL,223,NULL,NULL,NULL,13,NULL,NULL,NULL),(17580,'NCBI Gene Summary',NULL,224,NULL,'Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(17581,'NCBI Gene PubMed Count',NULL,224,NULL,NULL,NULL,24,NULL,NULL,NULL),(17582,'NCBI Gene Summary',NULL,225,NULL,'Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17583,'NCBI Gene PubMed Count',NULL,225,NULL,NULL,NULL,11,NULL,NULL,NULL),(17584,'NCBI Gene Summary',NULL,226,NULL,'Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17585,'NCBI Gene PubMed Count',NULL,226,NULL,NULL,NULL,12,NULL,NULL,NULL),(17586,'NCBI Gene PubMed Count',NULL,227,NULL,NULL,NULL,7,NULL,NULL,NULL),(17587,'NCBI Gene Summary',NULL,228,NULL,'Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17588,'NCBI Gene PubMed Count',NULL,228,NULL,NULL,NULL,27,NULL,NULL,NULL),(17589,'NCBI Gene Summary',NULL,229,NULL,'This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing pathways including protein processing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(17590,'NCBI Gene PubMed Count',NULL,229,NULL,NULL,NULL,14,NULL,NULL,NULL),(17591,'NCBI Gene Summary',NULL,230,NULL,'This gene likely encodes a member of the complexin family. The encoded protein may be involved in synaptic vesicle exocytosis. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(17592,'NCBI Gene PubMed Count',NULL,230,NULL,NULL,NULL,7,NULL,NULL,NULL),(17593,'NCBI Gene Summary',NULL,231,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17594,'NCBI Gene PubMed Count',NULL,231,NULL,NULL,NULL,186,NULL,NULL,NULL),(17595,'NCBI Gene Summary',NULL,232,NULL,'CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17596,'NCBI Gene PubMed Count',NULL,232,NULL,NULL,NULL,5,NULL,NULL,NULL),(17597,'NCBI Gene PubMed Count',NULL,233,NULL,NULL,NULL,3,NULL,NULL,NULL),(17598,'NCBI Gene PubMed Count',NULL,234,NULL,NULL,NULL,7,NULL,NULL,NULL),(17599,'NCBI Gene Summary',NULL,235,NULL,'This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(17600,'NCBI Gene PubMed Count',NULL,235,NULL,NULL,NULL,6,NULL,NULL,NULL),(17601,'NCBI Gene PubMed Count',NULL,236,NULL,NULL,NULL,4,NULL,NULL,NULL),(17602,'NCBI Gene PubMed Count',NULL,237,NULL,NULL,NULL,3,NULL,NULL,NULL),(17603,'NCBI Gene PubMed Count',NULL,238,NULL,NULL,NULL,7,NULL,NULL,NULL),(17604,'NCBI Gene PubMed Count',NULL,240,NULL,NULL,NULL,5,NULL,NULL,NULL),(17605,'NCBI Gene PubMed Count',NULL,241,NULL,NULL,NULL,4,NULL,NULL,NULL),(17606,'NCBI Gene Summary',NULL,242,NULL,'DISCONTINUED: This record has been withdrawn by NCBI staff because there is insufficient support for a transcript in this orientation.',NULL,NULL,NULL,NULL,NULL),(17607,'NCBI Gene PubMed Count',NULL,242,NULL,NULL,NULL,3,NULL,NULL,NULL),(17608,'NCBI Gene PubMed Count',NULL,243,NULL,NULL,NULL,0,NULL,NULL,NULL),(17609,'NCBI Gene PubMed Count',NULL,244,NULL,NULL,NULL,153,NULL,NULL,NULL),(17610,'NCBI Gene PubMed Count',NULL,245,NULL,NULL,NULL,23,NULL,NULL,NULL),(17611,'NCBI Gene Summary',NULL,246,NULL,'This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3\' exon that is complementary to the 3\'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(17612,'NCBI Gene PubMed Count',NULL,246,NULL,NULL,NULL,21,NULL,NULL,NULL),(17613,'NCBI Gene PubMed Count',NULL,247,NULL,NULL,NULL,3,NULL,NULL,NULL),(17614,'NCBI Gene Summary',NULL,248,NULL,'This gene encodes a factor that is part of the multi-protein C complex involved in pre-mRNA splicing. Alternatively spliced transcripts have been described for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(17615,'NCBI Gene PubMed Count',NULL,248,NULL,NULL,NULL,4,NULL,NULL,NULL),(17616,'NCBI Gene PubMed Count',NULL,249,NULL,NULL,NULL,10,NULL,NULL,NULL),(17617,'NCBI Gene PubMed Count',NULL,250,NULL,NULL,NULL,6,NULL,NULL,NULL),(17618,'NCBI Gene PubMed Count',NULL,251,NULL,NULL,NULL,4,NULL,NULL,NULL),(17619,'NCBI Gene PubMed Count',NULL,252,NULL,NULL,NULL,4,NULL,NULL,NULL),(17620,'NCBI Gene PubMed Count',NULL,253,NULL,NULL,NULL,0,NULL,NULL,NULL),(17621,'NCBI Gene PubMed Count',NULL,254,NULL,NULL,NULL,0,NULL,NULL,NULL),(17622,'NCBI Gene PubMed Count',NULL,255,NULL,NULL,NULL,2,NULL,NULL,NULL),(17623,'NCBI Gene PubMed Count',NULL,256,NULL,NULL,NULL,3,NULL,NULL,NULL),(17624,'NCBI Gene Summary',NULL,257,NULL,'This gene is a tumor-specific member of the ECTO-NOX family of genes that encode cell surface NADH oxidases. The encoded protein has two enzymatic activities: catalysis of hydroquinone or NADH oxidation, and protein disulfide interchange. The protein also displays prion-like properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(17625,'NCBI Gene PubMed Count',NULL,257,NULL,NULL,NULL,33,NULL,NULL,NULL),(17626,'NCBI Gene Summary',NULL,258,NULL,'Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene lead to increased susceptibility to HIV-1 infection and rapid progression to AIDS. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(17627,'NCBI Gene PubMed Count',NULL,258,NULL,NULL,NULL,284,NULL,NULL,NULL),(17628,'NCBI Gene Summary',NULL,259,NULL,'Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17629,'NCBI Gene PubMed Count',NULL,259,NULL,NULL,NULL,19,NULL,NULL,NULL),(17630,'NCBI Gene Summary',NULL,260,NULL,'Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17631,'NCBI Gene PubMed Count',NULL,260,NULL,NULL,NULL,23,NULL,NULL,NULL),(17632,'NCBI Gene Summary',NULL,261,NULL,'Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(17633,'NCBI Gene PubMed Count',NULL,261,NULL,NULL,NULL,18,NULL,NULL,NULL),(17634,'NCBI Gene PubMed Count',NULL,262,NULL,NULL,NULL,8,NULL,NULL,NULL),(17635,'NCBI Gene Summary',NULL,263,NULL,'This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(17636,'NCBI Gene PubMed Count',NULL,263,NULL,NULL,NULL,545,NULL,NULL,NULL),(17637,'NCBI Gene Summary',NULL,264,NULL,'This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17638,'NCBI Gene PubMed Count',NULL,264,NULL,NULL,NULL,86,NULL,NULL,NULL),(17639,'NCBI Gene Summary',NULL,265,NULL,'Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17640,'NCBI Gene PubMed Count',NULL,265,NULL,NULL,NULL,7,NULL,NULL,NULL),(17641,'NCBI Gene Summary',NULL,266,NULL,'The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(17642,'NCBI Gene PubMed Count',NULL,266,NULL,NULL,NULL,119,NULL,NULL,NULL),(17643,'NCBI Gene Summary',NULL,267,NULL,'Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17644,'NCBI Gene PubMed Count',NULL,267,NULL,NULL,NULL,10,NULL,NULL,NULL),(17645,'NCBI Gene Summary',NULL,268,NULL,'This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(17646,'NCBI Gene PubMed Count',NULL,268,NULL,NULL,NULL,743,NULL,NULL,NULL),(17647,'NCBI Gene Summary',NULL,269,NULL,'This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17648,'NCBI Gene PubMed Count',NULL,269,NULL,NULL,NULL,8,NULL,NULL,NULL),(17649,'NCBI Gene Summary',NULL,270,NULL,'This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(17650,'NCBI Gene PubMed Count',NULL,270,NULL,NULL,NULL,13,NULL,NULL,NULL),(17651,'NCBI Gene Summary',NULL,271,NULL,'Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This antimicrobial gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(17652,'NCBI Gene PubMed Count',NULL,271,NULL,NULL,NULL,108,NULL,NULL,NULL),(17653,'NCBI Gene Summary',NULL,272,NULL,'This gene encodes a G protein-coupled receptor with selectivity for three chemokines, termed CXCL9/Mig (monokine induced by interferon-g), CXCL10/IP10 (interferon-g-inducible 10 kDa protein) and CXCL11/I-TAC (interferon-inducible T cell a-chemoattractant). Binding of chemokines to this protein induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the isoforms (CXCR3-B) shows high affinity binding to chemokine, CXCL4/PF4 (PMID:12782716). [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(17654,'NCBI Gene PubMed Count',NULL,272,NULL,NULL,NULL,253,NULL,NULL,NULL),(17655,'NCBI Gene Summary',NULL,273,NULL,'The protein encoded by this gene is a retinoid-inducible nuclear protein containing a CXXC-type zinc finger motif. The encoded protein is involved in myelopoiesis, is required for DNA damage-induced p53 activation, regulates the differentiation of C2C12 myoblasts into myocytes, and negatively regulates cutaneous wound healing. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(17656,'NCBI Gene PubMed Count',NULL,273,NULL,NULL,NULL,25,NULL,NULL,NULL),(17657,'NCBI Gene Summary',NULL,274,NULL,'This gene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. The protein is a component of the SETD1 complex, regulates gene expression and is essential for vertebrate development. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(17658,'NCBI Gene PubMed Count',NULL,274,NULL,NULL,NULL,27,NULL,NULL,NULL),(17659,'NCBI Gene Summary',NULL,275,NULL,'Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17660,'NCBI Gene PubMed Count',NULL,275,NULL,NULL,NULL,304,NULL,NULL,NULL),(17661,'NCBI Gene PubMed Count',NULL,276,NULL,NULL,NULL,15,NULL,NULL,NULL),(17662,'NCBI Gene Summary',NULL,277,NULL,'This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(17663,'NCBI Gene PubMed Count',NULL,277,NULL,NULL,NULL,112,NULL,NULL,NULL),(17664,'NCBI Gene Summary',NULL,278,NULL,'This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17665,'NCBI Gene PubMed Count',NULL,278,NULL,NULL,NULL,181,NULL,NULL,NULL),(17666,'NCBI Gene PubMed Count',NULL,279,NULL,NULL,NULL,13,NULL,NULL,NULL),(17667,'NCBI Gene PubMed Count',NULL,280,NULL,NULL,NULL,2,NULL,NULL,NULL),(17668,'NCBI Gene PubMed Count',NULL,281,NULL,NULL,NULL,12,NULL,NULL,NULL),(17669,'NCBI Gene PubMed Count',NULL,282,NULL,NULL,NULL,7,NULL,NULL,NULL),(17670,'NCBI Gene Summary',NULL,283,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17671,'NCBI Gene PubMed Count',NULL,283,NULL,NULL,NULL,16,NULL,NULL,NULL),(17672,'NCBI Gene Summary',NULL,284,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17673,'NCBI Gene PubMed Count',NULL,284,NULL,NULL,NULL,932,NULL,NULL,NULL),(17674,'NCBI Gene Summary',NULL,285,NULL,'This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17675,'NCBI Gene PubMed Count',NULL,285,NULL,NULL,NULL,281,NULL,NULL,NULL),(17676,'NCBI Gene Summary',NULL,286,NULL,'Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis.  These proteins bind syntaxin, part of the SNAP receptor.  The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17677,'NCBI Gene PubMed Count',NULL,286,NULL,NULL,NULL,31,NULL,NULL,NULL),(17678,'NCBI Gene PubMed Count',NULL,287,NULL,NULL,NULL,14,NULL,NULL,NULL),(17679,'NCBI Gene Summary',NULL,288,NULL,'This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(17680,'NCBI Gene PubMed Count',NULL,288,NULL,NULL,NULL,13,NULL,NULL,NULL),(17681,'NCBI Gene PubMed Count',NULL,289,NULL,NULL,NULL,21,NULL,NULL,NULL),(17682,'NCBI Gene PubMed Count',NULL,290,NULL,NULL,NULL,31,NULL,NULL,NULL),(17683,'NCBI Gene Summary',NULL,291,NULL,'This gene encodes a member of the chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the transforming growth factor beta superfamily. In vitro assays demonstrate a direct interaction between the encoded protein and human activin A. This gene is expressed in many tissues including osteoblasts, where it is differentially expressed during differentiation. In addition, its expression is upregulated in human osteoarthritic joint cartilage, suggesting a role in adult cartilage regeneration. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(17684,'NCBI Gene PubMed Count',NULL,291,NULL,NULL,NULL,13,NULL,NULL,NULL),(17685,'NCBI Gene Summary',NULL,292,NULL,'The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(17686,'NCBI Gene PubMed Count',NULL,292,NULL,NULL,NULL,293,NULL,NULL,NULL),(17687,'NCBI Gene Summary',NULL,293,NULL,'This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(17688,'NCBI Gene PubMed Count',NULL,293,NULL,NULL,NULL,27,NULL,NULL,NULL),(17689,'NCBI Gene Summary',NULL,294,NULL,'This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17690,'NCBI Gene PubMed Count',NULL,294,NULL,NULL,NULL,46,NULL,NULL,NULL),(17691,'NCBI Gene PubMed Count',NULL,295,NULL,NULL,NULL,8,NULL,NULL,NULL),(17692,'NCBI Gene PubMed Count',NULL,296,NULL,NULL,NULL,4,NULL,NULL,NULL),(17693,'NCBI Gene Summary',NULL,297,NULL,'The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17694,'NCBI Gene PubMed Count',NULL,297,NULL,NULL,NULL,30,NULL,NULL,NULL),(17695,'NCBI Gene Summary',NULL,298,NULL,'The protein encoded by this gene belongs to the pentaxin family. It is involved in several host defense related functions based on its ability to recognize foreign pathogens and damaged cells of the host and to initiate their elimination by interacting with humoral and cellular effector systems in the blood. Consequently, the level of this protein in plasma increases greatly during acute phase response to tissue injury, infection, or other inflammatory stimuli. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(17696,'NCBI Gene PubMed Count',NULL,298,NULL,NULL,NULL,2017,NULL,NULL,NULL),(17697,'NCBI Gene PubMed Count',NULL,299,NULL,NULL,NULL,8,NULL,NULL,NULL),(17698,'NCBI Gene PubMed Count',NULL,300,NULL,NULL,NULL,25,NULL,NULL,NULL),(17699,'NCBI Gene Summary',NULL,301,NULL,'This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Drosophila determines apicobasal polarity in embryonic epithelial cells. Mutations in this gene are associated with focal segmental glomerulosclerosis 9, and with ventriculomegaly with cystic kidney disease. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(17700,'NCBI Gene PubMed Count',NULL,301,NULL,NULL,NULL,22,NULL,NULL,NULL),(17701,'NCBI Gene Summary',NULL,302,NULL,'This gene encodes a member of the Crumbs family of proteins. This gene is widely expressed in epithelial tissues where the encoded protein isoforms play various roles such as the control of cytokinesis and ciliogenesis or the formation of tight junctions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(17702,'NCBI Gene PubMed Count',NULL,302,NULL,NULL,NULL,20,NULL,NULL,NULL),(17703,'NCBI Gene Summary',NULL,303,NULL,'The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17704,'NCBI Gene PubMed Count',NULL,303,NULL,NULL,NULL,63,NULL,NULL,NULL),(17705,'NCBI Gene Summary',NULL,304,NULL,'This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(17706,'NCBI Gene PubMed Count',NULL,304,NULL,NULL,NULL,222,NULL,NULL,NULL),(17707,'NCBI Gene Summary',NULL,305,NULL,'This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(17708,'NCBI Gene PubMed Count',NULL,305,NULL,NULL,NULL,64,NULL,NULL,NULL),(17709,'NCBI Gene PubMed Count',NULL,306,NULL,NULL,NULL,27,NULL,NULL,NULL),(17710,'NCBI Gene PubMed Count',NULL,307,NULL,NULL,NULL,11,NULL,NULL,NULL),(17711,'NCBI Gene Summary',NULL,308,NULL,'This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(17712,'NCBI Gene PubMed Count',NULL,308,NULL,NULL,NULL,13,NULL,NULL,NULL),(17713,'NCBI Gene PubMed Count',NULL,309,NULL,NULL,NULL,10,NULL,NULL,NULL),(17714,'NCBI Gene Summary',NULL,310,NULL,'Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17715,'NCBI Gene PubMed Count',NULL,310,NULL,NULL,NULL,33,NULL,NULL,NULL),(17716,'NCBI Gene PubMed Count',NULL,311,NULL,NULL,NULL,10,NULL,NULL,NULL),(17717,'NCBI Gene Summary',NULL,312,NULL,'This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17718,'NCBI Gene PubMed Count',NULL,312,NULL,NULL,NULL,39,NULL,NULL,NULL),(17719,'NCBI Gene PubMed Count',NULL,313,NULL,NULL,NULL,8,NULL,NULL,NULL),(17720,'NCBI Gene PubMed Count',NULL,314,NULL,NULL,NULL,4,NULL,NULL,NULL),(17721,'NCBI Gene PubMed Count',NULL,316,NULL,NULL,NULL,3,NULL,NULL,NULL),(17722,'NCBI Gene PubMed Count',NULL,319,NULL,NULL,NULL,4,NULL,NULL,NULL),(17723,'NCBI Gene PubMed Count',NULL,321,NULL,NULL,NULL,7,NULL,NULL,NULL),(17724,'NCBI Gene PubMed Count',NULL,322,NULL,NULL,NULL,29,NULL,NULL,NULL),(17725,'NCBI Gene PubMed Count',NULL,323,NULL,NULL,NULL,1,NULL,NULL,NULL),(17726,'NCBI Gene PubMed Count',NULL,324,NULL,NULL,NULL,2,NULL,NULL,NULL),(17727,'NCBI Gene PubMed Count',NULL,325,NULL,NULL,NULL,3,NULL,NULL,NULL),(17728,'NCBI Gene PubMed Count',NULL,326,NULL,NULL,NULL,4,NULL,NULL,NULL),(17729,'NCBI Gene PubMed Count',NULL,327,NULL,NULL,NULL,8,NULL,NULL,NULL),(17730,'NCBI Gene PubMed Count',NULL,328,NULL,NULL,NULL,22,NULL,NULL,NULL),(17731,'NCBI Gene PubMed Count',NULL,329,NULL,NULL,NULL,72,NULL,NULL,NULL),(17732,'NCBI Gene PubMed Count',NULL,330,NULL,NULL,NULL,73,NULL,NULL,NULL),(17733,'NCBI Gene Summary',NULL,331,NULL,'This antimicrobial gene encodes a protein thought to be involved in T cell trafficking. The encoded protein binds to C-X-C motif chemokine 3 and is a chemoattractant for lymphocytes but not for neutrophils. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(17734,'NCBI Gene PubMed Count',NULL,331,NULL,NULL,NULL,164,NULL,NULL,NULL),(17735,'NCBI Gene Summary',NULL,332,NULL,'This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(17736,'NCBI Gene PubMed Count',NULL,332,NULL,NULL,NULL,32,NULL,NULL,NULL),(17737,'NCBI Gene Summary',NULL,333,NULL,'The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. Knockout studies in mice suggested that this protein inhibits embryonic oligodendrocyte precursor migration in developing spinal cord. This gene, IL8RB, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17738,'NCBI Gene PubMed Count',NULL,333,NULL,NULL,NULL,203,NULL,NULL,NULL),(17739,'NCBI Gene PubMed Count',NULL,334,NULL,NULL,NULL,12,NULL,NULL,NULL),(17740,'NCBI Gene PubMed Count',NULL,335,NULL,NULL,NULL,7,NULL,NULL,NULL),(17741,'NCBI Gene Summary',NULL,336,NULL,'The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(17742,'NCBI Gene PubMed Count',NULL,336,NULL,NULL,NULL,604,NULL,NULL,NULL),(17743,'NCBI Gene PubMed Count',NULL,337,NULL,NULL,NULL,3,NULL,NULL,NULL),(17744,'NCBI Gene Summary',NULL,338,NULL,'This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(17745,'NCBI Gene PubMed Count',NULL,338,NULL,NULL,NULL,68,NULL,NULL,NULL),(17746,'NCBI Gene Summary',NULL,339,NULL,'Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17747,'NCBI Gene PubMed Count',NULL,339,NULL,NULL,NULL,15,NULL,NULL,NULL),(17748,'NCBI Gene PubMed Count',NULL,340,NULL,NULL,NULL,12,NULL,NULL,NULL),(17749,'NCBI Gene Summary',NULL,341,NULL,'The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17750,'NCBI Gene PubMed Count',NULL,341,NULL,NULL,NULL,79,NULL,NULL,NULL),(17751,'NCBI Gene Summary',NULL,342,NULL,'Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17752,'NCBI Gene PubMed Count',NULL,342,NULL,NULL,NULL,44,NULL,NULL,NULL),(17753,'NCBI Gene Summary',NULL,343,NULL,'CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17754,'NCBI Gene PubMed Count',NULL,343,NULL,NULL,NULL,14,NULL,NULL,NULL),(17755,'NCBI Gene Summary',NULL,344,NULL,'Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17756,'NCBI Gene PubMed Count',NULL,344,NULL,NULL,NULL,83,NULL,NULL,NULL),(17757,'NCBI Gene Summary',NULL,345,NULL,'Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17758,'NCBI Gene PubMed Count',NULL,345,NULL,NULL,NULL,33,NULL,NULL,NULL),(17759,'NCBI Gene PubMed Count',NULL,346,NULL,NULL,NULL,12,NULL,NULL,NULL),(17760,'NCBI Gene Summary',NULL,347,NULL,'Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. This gene encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. Centromere protein A is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. The protein is a replication-independent histone that is a member of the histone H3 family. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(17761,'NCBI Gene PubMed Count',NULL,347,NULL,NULL,NULL,123,NULL,NULL,NULL),(17762,'NCBI Gene Summary',NULL,348,NULL,'Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17763,'NCBI Gene PubMed Count',NULL,348,NULL,NULL,NULL,23,NULL,NULL,NULL),(17764,'NCBI Gene Summary',NULL,349,NULL,'The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(17765,'NCBI Gene PubMed Count',NULL,349,NULL,NULL,NULL,11,NULL,NULL,NULL),(17766,'NCBI Gene Summary',NULL,350,NULL,'The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(17767,'NCBI Gene PubMed Count',NULL,350,NULL,NULL,NULL,28,NULL,NULL,NULL),(17768,'NCBI Gene PubMed Count',NULL,351,NULL,NULL,NULL,32,NULL,NULL,NULL),(17769,'NCBI Gene PubMed Count',NULL,353,NULL,NULL,NULL,5,NULL,NULL,NULL),(17770,'NCBI Gene Summary',NULL,354,NULL,'The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(17771,'NCBI Gene PubMed Count',NULL,354,NULL,NULL,NULL,7,NULL,NULL,NULL),(17772,'NCBI Gene PubMed Count',NULL,355,NULL,NULL,NULL,1,NULL,NULL,NULL),(17773,'NCBI Gene Summary',NULL,356,NULL,'The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(17774,'NCBI Gene PubMed Count',NULL,356,NULL,NULL,NULL,625,NULL,NULL,NULL),(17775,'NCBI Gene Summary',NULL,357,NULL,'This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(17776,'NCBI Gene PubMed Count',NULL,357,NULL,NULL,NULL,13,NULL,NULL,NULL),(17777,'NCBI Gene PubMed Count',NULL,358,NULL,NULL,NULL,5,NULL,NULL,NULL),(17778,'NCBI Gene PubMed Count',NULL,359,NULL,NULL,NULL,10,NULL,NULL,NULL),(17779,'NCBI Gene Summary',NULL,360,NULL,'This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(17780,'NCBI Gene PubMed Count',NULL,360,NULL,NULL,NULL,15,NULL,NULL,NULL),(17781,'NCBI Gene PubMed Count',NULL,361,NULL,NULL,NULL,8,NULL,NULL,NULL),(17782,'NCBI Gene Summary',NULL,362,NULL,'Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(17783,'NCBI Gene PubMed Count',NULL,362,NULL,NULL,NULL,375,NULL,NULL,NULL),(17784,'NCBI Gene Summary',NULL,363,NULL,'This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(17785,'NCBI Gene PubMed Count',NULL,363,NULL,NULL,NULL,39,NULL,NULL,NULL),(17786,'NCBI Gene PubMed Count',NULL,364,NULL,NULL,NULL,10,NULL,NULL,NULL),(17787,'NCBI Gene PubMed Count',NULL,365,NULL,NULL,NULL,13,NULL,NULL,NULL),(17788,'NCBI Gene Summary',NULL,366,NULL,'This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(17789,'NCBI Gene PubMed Count',NULL,366,NULL,NULL,NULL,15,NULL,NULL,NULL),(17790,'NCBI Gene PubMed Count',NULL,367,NULL,NULL,NULL,21,NULL,NULL,NULL),(17791,'NCBI Gene Summary',NULL,368,NULL,'This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17792,'NCBI Gene PubMed Count',NULL,368,NULL,NULL,NULL,46,NULL,NULL,NULL),(17793,'NCBI Gene PubMed Count',NULL,369,NULL,NULL,NULL,2,NULL,NULL,NULL),(17794,'NCBI Gene Summary',NULL,370,NULL,'This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17795,'NCBI Gene PubMed Count',NULL,370,NULL,NULL,NULL,55,NULL,NULL,NULL),(17796,'NCBI Gene Summary',NULL,371,NULL,'This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(17797,'NCBI Gene PubMed Count',NULL,371,NULL,NULL,NULL,26,NULL,NULL,NULL),(17798,'NCBI Gene PubMed Count',NULL,372,NULL,NULL,NULL,13,NULL,NULL,NULL),(17799,'NCBI Gene PubMed Count',NULL,373,NULL,NULL,NULL,17,NULL,NULL,NULL),(17800,'NCBI Gene Summary',NULL,374,NULL,'The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Several pseudogenes of this gene have been identified, and are present on chromosomes 1, 2, 3, 6, 9, 11, 13, 15, 16, 21 and 22. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(17801,'NCBI Gene PubMed Count',NULL,374,NULL,NULL,NULL,22,NULL,NULL,NULL),(17802,'NCBI Gene Summary',NULL,375,NULL,'This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involved in contraction. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17803,'NCBI Gene PubMed Count',NULL,375,NULL,NULL,NULL,25,NULL,NULL,NULL),(17804,'NCBI Gene PubMed Count',NULL,376,NULL,NULL,NULL,18,NULL,NULL,NULL),(17805,'NCBI Gene PubMed Count',NULL,377,NULL,NULL,NULL,50,NULL,NULL,NULL),(17806,'NCBI Gene PubMed Count',NULL,378,NULL,NULL,NULL,20,NULL,NULL,NULL),(17807,'NCBI Gene Summary',NULL,379,NULL,'This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(17808,'NCBI Gene PubMed Count',NULL,379,NULL,NULL,NULL,27,NULL,NULL,NULL),(17809,'NCBI Gene Summary',NULL,380,NULL,'The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(17810,'NCBI Gene PubMed Count',NULL,380,NULL,NULL,NULL,21,NULL,NULL,NULL),(17811,'NCBI Gene Summary',NULL,381,NULL,'This gene encodes a membrane-bound glycoprotein from the family of dipeptidases involved in hydrolytic metabolism of various dipeptides, including penem and carbapenem beta-lactam antibiotics. This gene is located on chromosome 16 in a cluster with another member of this family. Alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17812,'NCBI Gene PubMed Count',NULL,381,NULL,NULL,NULL,8,NULL,NULL,NULL),(17813,'NCBI Gene Summary',NULL,382,NULL,'The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) (CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled receptor for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. The cannabinoid receptors are members of family 1 of the G-protein-coupled receptors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17814,'NCBI Gene PubMed Count',NULL,382,NULL,NULL,NULL,197,NULL,NULL,NULL),(17815,'NCBI Gene PubMed Count',NULL,383,NULL,NULL,NULL,4,NULL,NULL,NULL),(17816,'NCBI Gene Summary',NULL,384,NULL,'The protein encoded by this gene is a polypeptide hormone whose actions appear to be restricted to the nervous system where it promotes neurotransmitter synthesis and neurite outgrowth in certain neuronal populations. The protein is a potent survival factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction during inflammatory attacks. A mutation in this gene, which results in aberrant splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is not causally related to neurologic disease. A read-through transcript variant composed of the upstream ZFP91 gene and CNTF sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(17817,'NCBI Gene PubMed Count',NULL,384,NULL,NULL,NULL,96,NULL,NULL,NULL),(17818,'NCBI Gene Summary',NULL,385,NULL,'This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17819,'NCBI Gene PubMed Count',NULL,385,NULL,NULL,NULL,181,NULL,NULL,NULL),(17820,'NCBI Gene Summary',NULL,386,NULL,'Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17821,'NCBI Gene PubMed Count',NULL,386,NULL,NULL,NULL,18,NULL,NULL,NULL),(17822,'NCBI Gene Summary',NULL,387,NULL,'The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(17823,'NCBI Gene PubMed Count',NULL,387,NULL,NULL,NULL,18,NULL,NULL,NULL),(17824,'NCBI Gene PubMed Count',NULL,388,NULL,NULL,NULL,7,NULL,NULL,NULL),(17825,'NCBI Gene Summary',NULL,389,NULL,'The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17826,'NCBI Gene PubMed Count',NULL,389,NULL,NULL,NULL,11,NULL,NULL,NULL),(17827,'NCBI Gene PubMed Count',NULL,390,NULL,NULL,NULL,2,NULL,NULL,NULL),(17828,'NCBI Gene PubMed Count',NULL,391,NULL,NULL,NULL,6,NULL,NULL,NULL),(17829,'NCBI Gene PubMed Count',NULL,392,NULL,NULL,NULL,12,NULL,NULL,NULL),(17830,'NCBI Gene Summary',NULL,393,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17831,'NCBI Gene PubMed Count',NULL,393,NULL,NULL,NULL,139,NULL,NULL,NULL),(17832,'NCBI Gene PubMed Count',NULL,394,NULL,NULL,NULL,1,NULL,NULL,NULL),(17833,'NCBI Gene PubMed Count',NULL,395,NULL,NULL,NULL,7,NULL,NULL,NULL),(17834,'NCBI Gene Summary',NULL,396,NULL,'This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17835,'NCBI Gene PubMed Count',NULL,396,NULL,NULL,NULL,14,NULL,NULL,NULL),(17836,'NCBI Gene PubMed Count',NULL,397,NULL,NULL,NULL,1,NULL,NULL,NULL),(17837,'NCBI Gene Summary',NULL,398,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid. It can also catalyze the epoxidation of 22:6n-3 and 22:5n-3 polyunsaturated long-chain fatty acids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(17838,'NCBI Gene PubMed Count',NULL,398,NULL,NULL,NULL,24,NULL,NULL,NULL),(17839,'NCBI Gene Summary',NULL,399,NULL,'Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. More variants may exist, but their full-length natures could not be determined. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(17840,'NCBI Gene PubMed Count',NULL,399,NULL,NULL,NULL,14,NULL,NULL,NULL),(17841,'NCBI Gene Summary',NULL,400,NULL,'The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(17842,'NCBI Gene PubMed Count',NULL,400,NULL,NULL,NULL,17,NULL,NULL,NULL),(17843,'NCBI Gene Summary',NULL,401,NULL,'This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(17844,'NCBI Gene PubMed Count',NULL,401,NULL,NULL,NULL,60,NULL,NULL,NULL),(17845,'NCBI Gene Summary',NULL,402,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17846,'NCBI Gene PubMed Count',NULL,402,NULL,NULL,NULL,21,NULL,NULL,NULL),(17847,'NCBI Gene Summary',NULL,403,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17848,'NCBI Gene PubMed Count',NULL,403,NULL,NULL,NULL,126,NULL,NULL,NULL),(17849,'NCBI Gene Summary',NULL,404,NULL,'This locus represents readthrough transcription between the neighboring CYP3A7 (cytochrome P450, family 3, subfamily A, polypeptide 7) and CYP3A51P (cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene) genes, which are members of the CYP3A gene cluster on chromosome 7. The downstream pseudogene is not known to be independently transcribed. The readthrough transcript includes CYP3A7 exons 1-13 and exons 2 and 13 of the pseudogene. It encodes a CYP3A isoform with a novel C-terminus. This isoform is only expressed in alleles containing a T nucleotide at the -6 position of a splice acceptor in the pseudogene, which enables correct splicing of the upstream CYP3A7 exons to the pseudogene exons. It should be noted that the reference genome sequence represents the CYP3A7_39256 T->A allele, and thus this haplotype is unlikely to produce the readthrough transcript. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(17850,'NCBI Gene PubMed Count',NULL,404,NULL,NULL,NULL,5,NULL,NULL,NULL),(17851,'NCBI Gene PubMed Count',NULL,405,NULL,NULL,NULL,4,NULL,NULL,NULL),(17852,'NCBI Gene Summary',NULL,406,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17853,'NCBI Gene PubMed Count',NULL,406,NULL,NULL,NULL,26,NULL,NULL,NULL),(17854,'NCBI Gene Summary',NULL,407,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17855,'NCBI Gene PubMed Count',NULL,407,NULL,NULL,NULL,14,NULL,NULL,NULL),(17856,'NCBI Gene PubMed Count',NULL,408,NULL,NULL,NULL,23,NULL,NULL,NULL),(17857,'NCBI Gene Summary',NULL,409,NULL,'Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17858,'NCBI Gene PubMed Count',NULL,409,NULL,NULL,NULL,36,NULL,NULL,NULL),(17859,'NCBI Gene Summary',NULL,410,NULL,'The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17860,'NCBI Gene PubMed Count',NULL,410,NULL,NULL,NULL,91,NULL,NULL,NULL),(17861,'NCBI Gene PubMed Count',NULL,411,NULL,NULL,NULL,42,NULL,NULL,NULL),(17862,'NCBI Gene Summary',NULL,412,NULL,'This gene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is a segregating pseudogene, where some individuals may have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. In this case, the functional allele is thought to be rare. This locus is part of a cluster of cytochrome P450 genes on chromosome 22. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(17863,'NCBI Gene PubMed Count',NULL,412,NULL,NULL,NULL,17,NULL,NULL,NULL),(17864,'NCBI Gene Summary',NULL,413,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(17865,'NCBI Gene PubMed Count',NULL,413,NULL,NULL,NULL,9,NULL,NULL,NULL),(17866,'NCBI Gene Summary',NULL,414,NULL,'Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17867,'NCBI Gene PubMed Count',NULL,414,NULL,NULL,NULL,21,NULL,NULL,NULL),(17868,'NCBI Gene Summary',NULL,415,NULL,'This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(17869,'NCBI Gene PubMed Count',NULL,415,NULL,NULL,NULL,46,NULL,NULL,NULL),(17870,'NCBI Gene PubMed Count',NULL,416,NULL,NULL,NULL,32,NULL,NULL,NULL),(17871,'NCBI Gene PubMed Count',NULL,417,NULL,NULL,NULL,3,NULL,NULL,NULL),(17872,'NCBI Gene Summary',NULL,418,NULL,'This gene encodes a cytokine receptor-like factor that may negatively regulate cell cycle progression at the G0/G1 phase. Studies of the related rat protein suggest that it may regulate neuronal morphology and synaptic vesicle biogenesis. This gene is one of several genes located in the neurofibromatosis type I tumor suppressor region on the q arm of chromosome 17, a region that is subject to microdeletions, duplications, chromosomal breaks and rearrangements. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2 and 5. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(17873,'NCBI Gene PubMed Count',NULL,418,NULL,NULL,NULL,19,NULL,NULL,NULL),(17874,'NCBI Gene PubMed Count',NULL,419,NULL,NULL,NULL,4,NULL,NULL,NULL),(17875,'NCBI Gene Summary',NULL,420,NULL,'The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17876,'NCBI Gene PubMed Count',NULL,420,NULL,NULL,NULL,12,NULL,NULL,NULL),(17877,'NCBI Gene PubMed Count',NULL,421,NULL,NULL,NULL,17,NULL,NULL,NULL),(17878,'NCBI Gene Summary',NULL,422,NULL,'The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17879,'NCBI Gene PubMed Count',NULL,422,NULL,NULL,NULL,280,NULL,NULL,NULL),(17880,'NCBI Gene Summary',NULL,423,NULL,'This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(17881,'NCBI Gene PubMed Count',NULL,423,NULL,NULL,NULL,18,NULL,NULL,NULL),(17882,'NCBI Gene PubMed Count',NULL,424,NULL,NULL,NULL,8,NULL,NULL,NULL),(17883,'NCBI Gene Summary',NULL,425,NULL,'This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(17884,'NCBI Gene PubMed Count',NULL,425,NULL,NULL,NULL,84,NULL,NULL,NULL),(17885,'NCBI Gene Summary',NULL,426,NULL,'The protein encoded by this gene is involved in multiple pathways, including the regulation of Src family kinases. It plays an important role in T-cell activation through its association with the protein encoded by the protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene. This protein also phosphorylates C-terminal tyrosine residues on multiple substrates, including the protein encoded by the SRC proto-oncogene, non-receptor tyrosine kinase gene. Phosphorylation suppresses the kinase activity of the Src family tyrosine kinases. An intronic polymorphism (rs34933034) in this gene has been found to affect B-cell activation and is associated with systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(17886,'NCBI Gene PubMed Count',NULL,426,NULL,NULL,NULL,198,NULL,NULL,NULL),(17887,'NCBI Gene PubMed Count',NULL,427,NULL,NULL,NULL,13,NULL,NULL,NULL),(17888,'NCBI Gene PubMed Count',NULL,428,NULL,NULL,NULL,40,NULL,NULL,NULL),(17889,'NCBI Gene PubMed Count',NULL,429,NULL,NULL,NULL,12,NULL,NULL,NULL),(17890,'NCBI Gene Summary',NULL,430,NULL,'This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variants have been observed at this locus. Readthrough transcription originates upstream of this locus in diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 and is represented by GeneID:110006325. Related pseudogenes are found next to this locus on chromosome 15 and on chromosome 5. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(17891,'NCBI Gene PubMed Count',NULL,430,NULL,NULL,NULL,20,NULL,NULL,NULL),(17892,'NCBI Gene Summary',NULL,431,NULL,'This gene encodes a serine-type endopeptidase with chymotrypsin- and elastase-2-like activities. The gene encoding this zymogen is expressed specifically in the pancreas and likely functions as a digestive enzyme. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(17893,'NCBI Gene PubMed Count',NULL,431,NULL,NULL,NULL,10,NULL,NULL,NULL),(17894,'NCBI Gene PubMed Count',NULL,433,NULL,NULL,NULL,33,NULL,NULL,NULL),(17895,'NCBI Gene PubMed Count',NULL,434,NULL,NULL,NULL,5,NULL,NULL,NULL),(17896,'NCBI Gene PubMed Count',NULL,437,NULL,NULL,NULL,8,NULL,NULL,NULL),(17897,'NCBI Gene PubMed Count',NULL,438,NULL,NULL,NULL,1,NULL,NULL,NULL),(17898,'NCBI Gene Summary',NULL,439,NULL,'This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17899,'NCBI Gene PubMed Count',NULL,439,NULL,NULL,NULL,83,NULL,NULL,NULL),(17900,'NCBI Gene PubMed Count',NULL,440,NULL,NULL,NULL,14,NULL,NULL,NULL),(17901,'NCBI Gene PubMed Count',NULL,441,NULL,NULL,NULL,6,NULL,NULL,NULL),(17902,'NCBI Gene PubMed Count',NULL,442,NULL,NULL,NULL,2,NULL,NULL,NULL),(17903,'NCBI Gene PubMed Count',NULL,443,NULL,NULL,NULL,8,NULL,NULL,NULL),(17904,'NCBI Gene PubMed Count',NULL,444,NULL,NULL,NULL,2,NULL,NULL,NULL),(17905,'NCBI Gene PubMed Count',NULL,445,NULL,NULL,NULL,5,NULL,NULL,NULL),(17906,'NCBI Gene PubMed Count',NULL,446,NULL,NULL,NULL,3,NULL,NULL,NULL),(17907,'NCBI Gene PubMed Count',NULL,447,NULL,NULL,NULL,3,NULL,NULL,NULL),(17908,'NCBI Gene PubMed Count',NULL,448,NULL,NULL,NULL,14,NULL,NULL,NULL),(17909,'NCBI Gene PubMed Count',NULL,449,NULL,NULL,NULL,20,NULL,NULL,NULL),(17910,'NCBI Gene PubMed Count',NULL,450,NULL,NULL,NULL,16,NULL,NULL,NULL),(17911,'NCBI Gene PubMed Count',NULL,452,NULL,NULL,NULL,2,NULL,NULL,NULL),(17912,'NCBI Gene PubMed Count',NULL,453,NULL,NULL,NULL,0,NULL,NULL,NULL),(17913,'NCBI Gene PubMed Count',NULL,454,NULL,NULL,NULL,2,NULL,NULL,NULL),(17914,'NCBI Gene PubMed Count',NULL,455,NULL,NULL,NULL,6,NULL,NULL,NULL),(17915,'NCBI Gene PubMed Count',NULL,456,NULL,NULL,NULL,1,NULL,NULL,NULL),(17916,'NCBI Gene PubMed Count',NULL,457,NULL,NULL,NULL,14,NULL,NULL,NULL),(17917,'NCBI Gene PubMed Count',NULL,458,NULL,NULL,NULL,6,NULL,NULL,NULL),(17918,'NCBI Gene Summary',NULL,459,NULL,'While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(17919,'NCBI Gene PubMed Count',NULL,459,NULL,NULL,NULL,7,NULL,NULL,NULL),(17920,'NCBI Gene Summary',NULL,460,NULL,'The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(17921,'NCBI Gene PubMed Count',NULL,460,NULL,NULL,NULL,18,NULL,NULL,NULL),(17922,'NCBI Gene Summary',NULL,461,NULL,'The protein encoded by this gene is predicted to be a type I membrane protein, however, its exact function is not known. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(17923,'NCBI Gene PubMed Count',NULL,461,NULL,NULL,NULL,2,NULL,NULL,NULL),(17924,'NCBI Gene PubMed Count',NULL,462,NULL,NULL,NULL,6,NULL,NULL,NULL),(17925,'NCBI Gene PubMed Count',NULL,463,NULL,NULL,NULL,8,NULL,NULL,NULL),(17926,'NCBI Gene Summary',NULL,464,NULL,'The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(17927,'NCBI Gene PubMed Count',NULL,464,NULL,NULL,NULL,60,NULL,NULL,NULL),(17928,'NCBI Gene Summary',NULL,465,NULL,'This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17929,'NCBI Gene PubMed Count',NULL,465,NULL,NULL,NULL,36,NULL,NULL,NULL),(17930,'NCBI Gene Summary',NULL,466,NULL,'This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17931,'NCBI Gene PubMed Count',NULL,466,NULL,NULL,NULL,31,NULL,NULL,NULL),(17932,'NCBI Gene Summary',NULL,467,NULL,'This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(17933,'NCBI Gene PubMed Count',NULL,467,NULL,NULL,NULL,14,NULL,NULL,NULL),(17934,'NCBI Gene Summary',NULL,468,NULL,'This antimicrobial gene encodes a chemokine of the CXC subfamily and ligand for the receptor CXCR3. Binding of this protein to CXCR3 results in pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(17935,'NCBI Gene PubMed Count',NULL,468,NULL,NULL,NULL,564,NULL,NULL,NULL),(17936,'NCBI Gene PubMed Count',NULL,469,NULL,NULL,NULL,144,NULL,NULL,NULL),(17937,'NCBI Gene Summary',NULL,470,NULL,'This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(17938,'NCBI Gene PubMed Count',NULL,470,NULL,NULL,NULL,31,NULL,NULL,NULL),(17939,'NCBI Gene Summary',NULL,471,NULL,'This gene encodes a CXXC-type zinc finger domain-containing protein that functions as an antagonist of the canonical wingless/integrated signaling pathway. The encoded protein negatively regulates wingless/integrated signaling through interaction with the post synaptic density protein/ Drosophila disc large tumor suppressor/ zonula occludens-1 protein domain of Dishevelled, a scaffolding protein required for the stabilization of the transcriptional co-activator beta-catenin. In addition, the CXXC domain of this protein has been shown to bind unmethylated CpG dinucleotides, localize to promoters and CpG islands, and interact with the catalytic domain of methylcytosine dioxygenase ten-eleven-translocation 2, an iron and alpha-ketoglutarate-dependent dioxygenase that modifies the methylation status of DNA. In humans, a mutation in this gene has been associated with development of malignant renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(17940,'NCBI Gene PubMed Count',NULL,471,NULL,NULL,NULL,12,NULL,NULL,NULL),(17941,'NCBI Gene Summary',NULL,472,NULL,'The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(17942,'NCBI Gene PubMed Count',NULL,472,NULL,NULL,NULL,160,NULL,NULL,NULL),(17943,'NCBI Gene Summary',NULL,473,NULL,'The protein encoded by this gene is a member of the beta chemokine receptor family. It is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are key regulators of the thymocytes migration and maturation in normal and inflammation conditions. The specific ligand of this receptor is CCL25. It has been found that this gene is differentially expressed by T lymphocytes of small intestine and colon, suggested a role in the thymocytes recruitment and development that may permit functional specialization of immune responses in different segment of the gastrointestinal tract. This gene is mapped to the chemokine receptor gene cluster region. Two alternatively spliced transcript variants have been described. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(17944,'NCBI Gene PubMed Count',NULL,473,NULL,NULL,NULL,60,NULL,NULL,NULL),(17945,'NCBI Gene Summary',NULL,474,NULL,'The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17946,'NCBI Gene PubMed Count',NULL,474,NULL,NULL,NULL,69,NULL,NULL,NULL),(17947,'NCBI Gene Summary',NULL,475,NULL,'The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17948,'NCBI Gene PubMed Count',NULL,475,NULL,NULL,NULL,1089,NULL,NULL,NULL),(17949,'NCBI Gene Summary',NULL,476,NULL,'This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3\' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(17950,'NCBI Gene PubMed Count',NULL,476,NULL,NULL,NULL,122,NULL,NULL,NULL),(17951,'NCBI Gene PubMed Count',NULL,477,NULL,NULL,NULL,37,NULL,NULL,NULL),(17952,'NCBI Gene PubMed Count',NULL,478,NULL,NULL,NULL,2,NULL,NULL,NULL),(17953,'NCBI Gene PubMed Count',NULL,479,NULL,NULL,NULL,3,NULL,NULL,NULL),(17954,'NCBI Gene PubMed Count',NULL,480,NULL,NULL,NULL,34,NULL,NULL,NULL),(17955,'NCBI Gene Summary',NULL,481,NULL,'This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17956,'NCBI Gene PubMed Count',NULL,481,NULL,NULL,NULL,17,NULL,NULL,NULL),(17957,'NCBI Gene PubMed Count',NULL,482,NULL,NULL,NULL,29,NULL,NULL,NULL),(17958,'NCBI Gene PubMed Count',NULL,483,NULL,NULL,NULL,6,NULL,NULL,NULL),(17959,'NCBI Gene PubMed Count',NULL,484,NULL,NULL,NULL,29,NULL,NULL,NULL),(17960,'NCBI Gene PubMed Count',NULL,485,NULL,NULL,NULL,12,NULL,NULL,NULL),(17961,'NCBI Gene Summary',NULL,486,NULL,'This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(17962,'NCBI Gene PubMed Count',NULL,486,NULL,NULL,NULL,82,NULL,NULL,NULL),(17963,'NCBI Gene PubMed Count',NULL,487,NULL,NULL,NULL,12,NULL,NULL,NULL),(17964,'NCBI Gene Summary',NULL,488,NULL,'The protein encoded by this gene belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues spaced ten amino acids apart from one another. These residues form disulfide linkages that define a CHCH fold. In response to stress, the protein translocates from the mitochondrial intermembrane space to the nucleus where it binds to a highly conserved 13 nucleotide oxygen responsive element in the promoter of cytochrome oxidase 4I2, a subunit of the terminal enzyme of the electron transport chain. In concert with recombination signal sequence-binding protein J, binding of this protein activates the oxygen responsive element at four percent oxygen. In addition, it has been shown that this protein is a negative regulator of mitochondria-mediated apoptosis. In response to apoptotic stimuli, mitochondrial levels of this protein decrease, allowing BCL2-associated X protein to oligomerize and activate the caspase cascade. Pseudogenes of this gene are found on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(17965,'NCBI Gene PubMed Count',NULL,488,NULL,NULL,NULL,40,NULL,NULL,NULL),(17966,'NCBI Gene PubMed Count',NULL,489,NULL,NULL,NULL,6,NULL,NULL,NULL),(17967,'NCBI Gene Summary',NULL,490,NULL,'This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer\'s disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(17968,'NCBI Gene PubMed Count',NULL,490,NULL,NULL,NULL,207,NULL,NULL,NULL),(17969,'NCBI Gene Summary',NULL,491,NULL,'CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(17970,'NCBI Gene PubMed Count',NULL,491,NULL,NULL,NULL,351,NULL,NULL,NULL),(17971,'NCBI Gene Summary',NULL,492,NULL,'CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(17972,'NCBI Gene PubMed Count',NULL,492,NULL,NULL,NULL,335,NULL,NULL,NULL),(17973,'NCBI Gene Summary',NULL,493,NULL,'CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(17974,'NCBI Gene PubMed Count',NULL,493,NULL,NULL,NULL,42,NULL,NULL,NULL),(17975,'NCBI Gene Summary',NULL,494,NULL,'This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer\'s disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(17976,'NCBI Gene PubMed Count',NULL,494,NULL,NULL,NULL,23,NULL,NULL,NULL),(17977,'NCBI Gene Summary',NULL,495,NULL,'This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(17978,'NCBI Gene PubMed Count',NULL,495,NULL,NULL,NULL,519,NULL,NULL,NULL),(17979,'NCBI Gene Summary',NULL,496,NULL,'The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(17980,'NCBI Gene PubMed Count',NULL,496,NULL,NULL,NULL,21,NULL,NULL,NULL),(17981,'NCBI Gene Summary',NULL,497,NULL,'This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17982,'NCBI Gene PubMed Count',NULL,497,NULL,NULL,NULL,19,NULL,NULL,NULL),(17983,'NCBI Gene Summary',NULL,498,NULL,'This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17984,'NCBI Gene PubMed Count',NULL,498,NULL,NULL,NULL,36,NULL,NULL,NULL),(17985,'NCBI Gene Summary',NULL,499,NULL,'This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(17986,'NCBI Gene PubMed Count',NULL,499,NULL,NULL,NULL,28,NULL,NULL,NULL),(17987,'NCBI Gene Summary',NULL,500,NULL,'This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(17988,'NCBI Gene PubMed Count',NULL,500,NULL,NULL,NULL,31,NULL,NULL,NULL),(17989,'NCBI Gene Summary',NULL,501,NULL,'HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17990,'NCBI Gene PubMed Count',NULL,501,NULL,NULL,NULL,33,NULL,NULL,NULL),(17991,'NCBI Gene Summary',NULL,502,NULL,'This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(17992,'NCBI Gene PubMed Count',NULL,502,NULL,NULL,NULL,18,NULL,NULL,NULL),(17993,'NCBI Gene PubMed Count',NULL,503,NULL,NULL,NULL,5,NULL,NULL,NULL),(17994,'NCBI Gene Summary',NULL,504,NULL,'There are at least two protein isoforms of the Double C2 protein,  namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains.  DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(17995,'NCBI Gene PubMed Count',NULL,504,NULL,NULL,NULL,16,NULL,NULL,NULL),(17996,'NCBI Gene Summary',NULL,505,NULL,'This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(17997,'NCBI Gene PubMed Count',NULL,505,NULL,NULL,NULL,70,NULL,NULL,NULL),(17998,'NCBI Gene Summary',NULL,506,NULL,'This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(17999,'NCBI Gene PubMed Count',NULL,506,NULL,NULL,NULL,26,NULL,NULL,NULL),(18000,'NCBI Gene Summary',NULL,507,NULL,'The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(18001,'NCBI Gene PubMed Count',NULL,507,NULL,NULL,NULL,45,NULL,NULL,NULL),(18002,'NCBI Gene PubMed Count',NULL,508,NULL,NULL,NULL,5,NULL,NULL,NULL),(18003,'NCBI Gene Summary',NULL,509,NULL,'The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(18004,'NCBI Gene PubMed Count',NULL,509,NULL,NULL,NULL,43,NULL,NULL,NULL),(18005,'NCBI Gene Summary',NULL,510,NULL,'This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(18006,'NCBI Gene PubMed Count',NULL,510,NULL,NULL,NULL,26,NULL,NULL,NULL),(18007,'NCBI Gene Summary',NULL,511,NULL,'This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(18008,'NCBI Gene PubMed Count',NULL,511,NULL,NULL,NULL,23,NULL,NULL,NULL),(18009,'NCBI Gene Summary',NULL,512,NULL,'This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(18010,'NCBI Gene PubMed Count',NULL,512,NULL,NULL,NULL,51,NULL,NULL,NULL),(18011,'NCBI Gene PubMed Count',NULL,514,NULL,NULL,NULL,2,NULL,NULL,NULL),(18012,'NCBI Gene PubMed Count',NULL,515,NULL,NULL,NULL,5,NULL,NULL,NULL),(18013,'NCBI Gene PubMed Count',NULL,516,NULL,NULL,NULL,3,NULL,NULL,NULL),(18014,'NCBI Gene PubMed Count',NULL,517,NULL,NULL,NULL,11,NULL,NULL,NULL),(18015,'NCBI Gene PubMed Count',NULL,518,NULL,NULL,NULL,5,NULL,NULL,NULL),(18016,'NCBI Gene PubMed Count',NULL,519,NULL,NULL,NULL,7,NULL,NULL,NULL),(18017,'NCBI Gene PubMed Count',NULL,520,NULL,NULL,NULL,1,NULL,NULL,NULL),(18018,'NCBI Gene PubMed Count',NULL,521,NULL,NULL,NULL,7,NULL,NULL,NULL),(18019,'NCBI Gene PubMed Count',NULL,522,NULL,NULL,NULL,3,NULL,NULL,NULL),(18020,'NCBI Gene PubMed Count',NULL,523,NULL,NULL,NULL,2,NULL,NULL,NULL),(18021,'NCBI Gene PubMed Count',NULL,524,NULL,NULL,NULL,60,NULL,NULL,NULL),(18022,'NCBI Gene PubMed Count',NULL,525,NULL,NULL,NULL,26,NULL,NULL,NULL),(18023,'NCBI Gene Summary',NULL,527,NULL,'This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(18024,'NCBI Gene PubMed Count',NULL,527,NULL,NULL,NULL,43,NULL,NULL,NULL),(18025,'NCBI Gene Summary',NULL,528,NULL,'The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(18026,'NCBI Gene PubMed Count',NULL,528,NULL,NULL,NULL,60,NULL,NULL,NULL),(18027,'NCBI Gene Summary',NULL,529,NULL,'This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(18028,'NCBI Gene PubMed Count',NULL,529,NULL,NULL,NULL,39,NULL,NULL,NULL),(18029,'NCBI Gene Summary',NULL,530,NULL,'The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(18030,'NCBI Gene PubMed Count',NULL,530,NULL,NULL,NULL,35,NULL,NULL,NULL),(18031,'NCBI Gene Summary',NULL,531,NULL,'This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(18032,'NCBI Gene PubMed Count',NULL,531,NULL,NULL,NULL,51,NULL,NULL,NULL),(18033,'NCBI Gene Summary',NULL,532,NULL,'The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(18034,'NCBI Gene PubMed Count',NULL,532,NULL,NULL,NULL,25,NULL,NULL,NULL),(18035,'NCBI Gene Summary',NULL,533,NULL,'The protein encoded by this gene binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The encoded protein downregulates the innate immune response and therefore provides a therapeutic target for enhancing its antimicrobial activity against foreign agents. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(18036,'NCBI Gene PubMed Count',NULL,533,NULL,NULL,NULL,56,NULL,NULL,NULL),(18037,'NCBI Gene PubMed Count',NULL,534,NULL,NULL,NULL,4,NULL,NULL,NULL),(18038,'NCBI Gene Summary',NULL,535,NULL,'The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18039,'NCBI Gene PubMed Count',NULL,535,NULL,NULL,NULL,8,NULL,NULL,NULL),(18040,'NCBI Gene Summary',NULL,536,NULL,'This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(18041,'NCBI Gene PubMed Count',NULL,536,NULL,NULL,NULL,17,NULL,NULL,NULL),(18042,'NCBI Gene PubMed Count',NULL,537,NULL,NULL,NULL,8,NULL,NULL,NULL),(18043,'NCBI Gene Summary',NULL,538,NULL,'This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(18044,'NCBI Gene PubMed Count',NULL,538,NULL,NULL,NULL,11,NULL,NULL,NULL),(18045,'NCBI Gene Summary',NULL,539,NULL,'This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18046,'NCBI Gene PubMed Count',NULL,539,NULL,NULL,NULL,318,NULL,NULL,NULL),(18047,'NCBI Gene Summary',NULL,540,NULL,'This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18048,'NCBI Gene PubMed Count',NULL,540,NULL,NULL,NULL,106,NULL,NULL,NULL),(18049,'NCBI Gene Summary',NULL,541,NULL,'This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(18050,'NCBI Gene PubMed Count',NULL,541,NULL,NULL,NULL,31,NULL,NULL,NULL),(18051,'NCBI Gene Summary',NULL,542,NULL,'This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(18052,'NCBI Gene PubMed Count',NULL,542,NULL,NULL,NULL,64,NULL,NULL,NULL),(18053,'NCBI Gene Summary',NULL,543,NULL,'The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(18054,'NCBI Gene PubMed Count',NULL,543,NULL,NULL,NULL,26,NULL,NULL,NULL),(18055,'NCBI Gene Summary',NULL,544,NULL,'CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(18056,'NCBI Gene PubMed Count',NULL,544,NULL,NULL,NULL,12,NULL,NULL,NULL),(18057,'NCBI Gene PubMed Count',NULL,545,NULL,NULL,NULL,10,NULL,NULL,NULL),(18058,'NCBI Gene PubMed Count',NULL,546,NULL,NULL,NULL,7,NULL,NULL,NULL),(18059,'NCBI Gene Summary',NULL,547,NULL,'This gene is a member of the carboxylesterase (CES) gene family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene does not encode a protein and the sequence is similar to the CES1 gene, so represents a pseudogene of the CES1 gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(18060,'NCBI Gene PubMed Count',NULL,547,NULL,NULL,NULL,9,NULL,NULL,NULL),(18061,'NCBI Gene PubMed Count',NULL,548,NULL,NULL,NULL,10,NULL,NULL,NULL),(18062,'NCBI Gene Summary',NULL,549,NULL,'This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(18063,'NCBI Gene PubMed Count',NULL,549,NULL,NULL,NULL,744,NULL,NULL,NULL),(18064,'NCBI Gene Summary',NULL,550,NULL,'This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(18065,'NCBI Gene PubMed Count',NULL,550,NULL,NULL,NULL,110,NULL,NULL,NULL),(18066,'NCBI Gene Summary',NULL,551,NULL,'This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(18067,'NCBI Gene PubMed Count',NULL,551,NULL,NULL,NULL,34,NULL,NULL,NULL),(18068,'NCBI Gene PubMed Count',NULL,552,NULL,NULL,NULL,23,NULL,NULL,NULL),(18069,'NCBI Gene PubMed Count',NULL,553,NULL,NULL,NULL,3,NULL,NULL,NULL),(18070,'NCBI Gene PubMed Count',NULL,554,NULL,NULL,NULL,9,NULL,NULL,NULL),(18071,'NCBI Gene PubMed Count',NULL,555,NULL,NULL,NULL,13,NULL,NULL,NULL),(18072,'NCBI Gene Summary',NULL,556,NULL,'This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(18073,'NCBI Gene PubMed Count',NULL,556,NULL,NULL,NULL,21,NULL,NULL,NULL),(18074,'NCBI Gene Summary',NULL,557,NULL,'This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(18075,'NCBI Gene PubMed Count',NULL,557,NULL,NULL,NULL,43,NULL,NULL,NULL),(18076,'NCBI Gene Summary',NULL,558,NULL,'This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(18077,'NCBI Gene PubMed Count',NULL,558,NULL,NULL,NULL,45,NULL,NULL,NULL),(18078,'NCBI Gene PubMed Count',NULL,559,NULL,NULL,NULL,12,NULL,NULL,NULL),(18079,'NCBI Gene Summary',NULL,560,NULL,'The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(18080,'NCBI Gene PubMed Count',NULL,560,NULL,NULL,NULL,22,NULL,NULL,NULL),(18081,'NCBI Gene Summary',NULL,562,NULL,'Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DPRX homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18082,'NCBI Gene PubMed Count',NULL,562,NULL,NULL,NULL,2,NULL,NULL,NULL),(18083,'NCBI Gene Summary',NULL,563,NULL,'The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18084,'NCBI Gene PubMed Count',NULL,563,NULL,NULL,NULL,19,NULL,NULL,NULL),(18085,'NCBI Gene PubMed Count',NULL,564,NULL,NULL,NULL,5,NULL,NULL,NULL),(18086,'NCBI Gene Summary',NULL,565,NULL,'Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(18087,'NCBI Gene PubMed Count',NULL,565,NULL,NULL,NULL,12,NULL,NULL,NULL),(18088,'NCBI Gene PubMed Count',NULL,566,NULL,NULL,NULL,10,NULL,NULL,NULL),(18089,'NCBI Gene Summary',NULL,567,NULL,'The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(18090,'NCBI Gene PubMed Count',NULL,567,NULL,NULL,NULL,7,NULL,NULL,NULL),(18091,'NCBI Gene PubMed Count',NULL,568,NULL,NULL,NULL,11,NULL,NULL,NULL),(18092,'NCBI Gene Summary',NULL,569,NULL,'This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18093,'NCBI Gene PubMed Count',NULL,569,NULL,NULL,NULL,270,NULL,NULL,NULL),(18094,'NCBI Gene Summary',NULL,570,NULL,'This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18095,'NCBI Gene PubMed Count',NULL,570,NULL,NULL,NULL,1128,NULL,NULL,NULL),(18096,'NCBI Gene Summary',NULL,571,NULL,'COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(18097,'NCBI Gene PubMed Count',NULL,571,NULL,NULL,NULL,17,NULL,NULL,NULL),(18098,'NCBI Gene Summary',NULL,572,NULL,'This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18099,'NCBI Gene PubMed Count',NULL,572,NULL,NULL,NULL,663,NULL,NULL,NULL),(18100,'NCBI Gene Summary',NULL,573,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(18101,'NCBI Gene PubMed Count',NULL,573,NULL,NULL,NULL,10,NULL,NULL,NULL),(18102,'NCBI Gene Summary',NULL,574,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam and erythromycin. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(18103,'NCBI Gene PubMed Count',NULL,574,NULL,NULL,NULL,815,NULL,NULL,NULL),(18104,'NCBI Gene Summary',NULL,575,NULL,'The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(18105,'NCBI Gene PubMed Count',NULL,575,NULL,NULL,NULL,26,NULL,NULL,NULL),(18106,'NCBI Gene Summary',NULL,576,NULL,'This gene is a member of the receptors of complement activation (RCA) family and is located in the \'cluster RCA\' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18107,'NCBI Gene PubMed Count',NULL,576,NULL,NULL,NULL,208,NULL,NULL,NULL),(18108,'NCBI Gene Summary',NULL,577,NULL,'This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18109,'NCBI Gene PubMed Count',NULL,577,NULL,NULL,NULL,310,NULL,NULL,NULL),(18110,'NCBI Gene Summary',NULL,578,NULL,'The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(18111,'NCBI Gene PubMed Count',NULL,578,NULL,NULL,NULL,43,NULL,NULL,NULL),(18112,'NCBI Gene Summary',NULL,579,NULL,'The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18113,'NCBI Gene PubMed Count',NULL,579,NULL,NULL,NULL,20,NULL,NULL,NULL),(18114,'NCBI Gene Summary',NULL,580,NULL,'This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(18115,'NCBI Gene PubMed Count',NULL,580,NULL,NULL,NULL,16,NULL,NULL,NULL),(18116,'NCBI Gene Summary',NULL,581,NULL,'The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(18117,'NCBI Gene PubMed Count',NULL,581,NULL,NULL,NULL,24,NULL,NULL,NULL),(18118,'NCBI Gene Summary',NULL,582,NULL,'This gene encodes a purine-converting ectoenzyme which belongs to the ecto-nucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The encoded protein hydrolyzes extracellular nucleoside triphosphates (UTP, GTP, and CTP) to nucleoside monophosphates as part of a purinergic signaling pathway. It contains two transmembrane domains at the N- and C-termini and a large, hydrophobic catalytic domain located in between. This gene affects oxidative stress as well as DNA damage and is a mediator of senescence. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(18119,'NCBI Gene PubMed Count',NULL,582,NULL,NULL,NULL,14,NULL,NULL,NULL),(18120,'NCBI Gene PubMed Count',NULL,583,NULL,NULL,NULL,10,NULL,NULL,NULL),(18121,'NCBI Gene PubMed Count',NULL,584,NULL,NULL,NULL,9,NULL,NULL,NULL),(18122,'NCBI Gene Summary',NULL,585,NULL,'This locus represents naturally occurring read-through transcription between the neighboring SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) and WFDC6 (WAP four-disulfide core domain 6) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(18123,'NCBI Gene PubMed Count',NULL,585,NULL,NULL,NULL,1,NULL,NULL,NULL),(18124,'NCBI Gene Summary',NULL,586,NULL,'This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(18125,'NCBI Gene PubMed Count',NULL,586,NULL,NULL,NULL,88,NULL,NULL,NULL),(18126,'NCBI Gene Summary',NULL,587,NULL,'This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(18127,'NCBI Gene PubMed Count',NULL,587,NULL,NULL,NULL,31,NULL,NULL,NULL),(18128,'NCBI Gene Summary',NULL,588,NULL,'Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(18129,'NCBI Gene PubMed Count',NULL,588,NULL,NULL,NULL,16,NULL,NULL,NULL),(18130,'NCBI Gene Summary',NULL,589,NULL,'Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into two groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(18131,'NCBI Gene PubMed Count',NULL,589,NULL,NULL,NULL,38,NULL,NULL,NULL),(18132,'NCBI Gene Summary',NULL,590,NULL,'This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(18133,'NCBI Gene PubMed Count',NULL,590,NULL,NULL,NULL,19,NULL,NULL,NULL),(18134,'NCBI Gene Summary',NULL,591,NULL,'This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(18135,'NCBI Gene PubMed Count',NULL,591,NULL,NULL,NULL,9,NULL,NULL,NULL),(18136,'NCBI Gene PubMed Count',NULL,592,NULL,NULL,NULL,9,NULL,NULL,NULL),(18137,'NCBI Gene PubMed Count',NULL,593,NULL,NULL,NULL,15,NULL,NULL,NULL),(18138,'NCBI Gene PubMed Count',NULL,594,NULL,NULL,NULL,6,NULL,NULL,NULL),(18139,'NCBI Gene Summary',NULL,595,NULL,'ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(18140,'NCBI Gene PubMed Count',NULL,595,NULL,NULL,NULL,14,NULL,NULL,NULL),(18141,'NCBI Gene PubMed Count',NULL,596,NULL,NULL,NULL,11,NULL,NULL,NULL),(18142,'NCBI Gene PubMed Count',NULL,597,NULL,NULL,NULL,3,NULL,NULL,NULL),(18143,'NCBI Gene PubMed Count',NULL,598,NULL,NULL,NULL,5,NULL,NULL,NULL),(18144,'NCBI Gene PubMed Count',NULL,599,NULL,NULL,NULL,3,NULL,NULL,NULL),(18145,'NCBI Gene PubMed Count',NULL,600,NULL,NULL,NULL,2,NULL,NULL,NULL),(18146,'NCBI Gene PubMed Count',NULL,601,NULL,NULL,NULL,1,NULL,NULL,NULL),(18147,'NCBI Gene PubMed Count',NULL,602,NULL,NULL,NULL,3,NULL,NULL,NULL),(18148,'NCBI Gene Summary',NULL,604,NULL,'The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(18149,'NCBI Gene PubMed Count',NULL,604,NULL,NULL,NULL,27,NULL,NULL,NULL),(18150,'NCBI Gene Summary',NULL,605,NULL,'This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(18151,'NCBI Gene PubMed Count',NULL,605,NULL,NULL,NULL,35,NULL,NULL,NULL),(18152,'NCBI Gene Summary',NULL,606,NULL,'The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18153,'NCBI Gene PubMed Count',NULL,606,NULL,NULL,NULL,17,NULL,NULL,NULL),(18154,'NCBI Gene PubMed Count',NULL,607,NULL,NULL,NULL,9,NULL,NULL,NULL),(18155,'NCBI Gene PubMed Count',NULL,608,NULL,NULL,NULL,15,NULL,NULL,NULL),(18156,'NCBI Gene PubMed Count',NULL,609,NULL,NULL,NULL,15,NULL,NULL,NULL),(18157,'NCBI Gene PubMed Count',NULL,610,NULL,NULL,NULL,21,NULL,NULL,NULL),(18158,'NCBI Gene Summary',NULL,611,NULL,'This gene encodes a member of the G-protein-coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. The encoded protein activates a Gq signal transduction pathway which mobilizes calcium. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(18159,'NCBI Gene PubMed Count',NULL,611,NULL,NULL,NULL,6,NULL,NULL,NULL),(18160,'NCBI Gene Summary',NULL,612,NULL,'This gene encodes a G protein-couple receptor protein. G-protein-coupled receptors are a large family of membrane proteins that are involved in cellular responses to environmental stimuli, neurotransmitters, and hormones. The encoded protein may play a role in neurodegenerative diseases. Epigenetic silencing of this gene has been observed in gliomas. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(18161,'NCBI Gene PubMed Count',NULL,612,NULL,NULL,NULL,14,NULL,NULL,NULL),(18162,'NCBI Gene Summary',NULL,613,NULL,'Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on human chromosome 19 that has inactivating mutations in the gag and pol genes. The gene\'s envelope protein is expressed in the human placenta but is truncated at its C-terminus. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(18163,'NCBI Gene PubMed Count',NULL,613,NULL,NULL,NULL,7,NULL,NULL,NULL),(18164,'NCBI Gene Summary',NULL,614,NULL,'Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on human chromosome 19 that has inactivating mutations in the gag and pol genes. This envelope glycoprotein gene appears to have been selectively preserved. The gene\'s protein product is expressed in the placenta and acts as a syncytin in Old World monkeys, but has lost the fusogenic activity in humans and other primate lineages. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(18165,'NCBI Gene PubMed Count',NULL,614,NULL,NULL,NULL,7,NULL,NULL,NULL),(18166,'NCBI Gene Summary',NULL,615,NULL,'This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18167,'NCBI Gene PubMed Count',NULL,615,NULL,NULL,NULL,16,NULL,NULL,NULL),(18168,'NCBI Gene Summary',NULL,616,NULL,'This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(18169,'NCBI Gene PubMed Count',NULL,616,NULL,NULL,NULL,17,NULL,NULL,NULL),(18170,'NCBI Gene Summary',NULL,617,NULL,'This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18171,'NCBI Gene PubMed Count',NULL,617,NULL,NULL,NULL,15,NULL,NULL,NULL),(18172,'NCBI Gene PubMed Count',NULL,618,NULL,NULL,NULL,20,NULL,NULL,NULL),(18173,'NCBI Gene Summary',NULL,619,NULL,'ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(18174,'NCBI Gene PubMed Count',NULL,619,NULL,NULL,NULL,21,NULL,NULL,NULL),(18175,'NCBI Gene Summary',NULL,620,NULL,'This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18176,'NCBI Gene PubMed Count',NULL,620,NULL,NULL,NULL,25,NULL,NULL,NULL),(18177,'NCBI Gene Summary',NULL,621,NULL,'This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike several other characterized glutathione peroxidases, this enzyme is not a selenoprotein, lacking the selenocysteine residue. Thus, it is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(18178,'NCBI Gene PubMed Count',NULL,621,NULL,NULL,NULL,17,NULL,NULL,NULL),(18179,'NCBI Gene Summary',NULL,622,NULL,'The protein encoded by this gene has been shown to promote tumor invasion and metastasis in some invasive cancer cells when overexpressed. Expression of this gene has been shown to be upregulated by direct binding of the Kruppel like factor 8 protein to promoter sequences. The translated protein interacts with the amino terminal region of the valosin containing protein gene product, resulting in the nuclear translocation of the nuclear factor kappa B subunit 1 gene product, and activation of target genes. Overexpression of this gene has been observed in some breast cancers and in some individuals with systemic lupus erythematosus (SLE). [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(18180,'NCBI Gene PubMed Count',NULL,622,NULL,NULL,NULL,11,NULL,NULL,NULL),(18181,'NCBI Gene Summary',NULL,623,NULL,'ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(18182,'NCBI Gene PubMed Count',NULL,623,NULL,NULL,NULL,33,NULL,NULL,NULL),(18183,'NCBI Gene Summary',NULL,624,NULL,'This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson\'s disease. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(18184,'NCBI Gene PubMed Count',NULL,624,NULL,NULL,NULL,36,NULL,NULL,NULL),(18185,'NCBI Gene Summary',NULL,625,NULL,'Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface \'nonself\' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18186,'NCBI Gene PubMed Count',NULL,625,NULL,NULL,NULL,63,NULL,NULL,NULL),(18187,'NCBI Gene Summary',NULL,626,NULL,'This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(18188,'NCBI Gene PubMed Count',NULL,626,NULL,NULL,NULL,268,NULL,NULL,NULL),(18189,'NCBI Gene Summary',NULL,627,NULL,'This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain. The C-terminal fragment localizes to the cytoplasm while the N-terminal fragment localizes exclusively to the nucleus. In contrast to human, the mouse homolog has a novel PN/PF motif in the C-terminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(18190,'NCBI Gene PubMed Count',NULL,627,NULL,NULL,NULL,14,NULL,NULL,NULL),(18191,'NCBI Gene Summary',NULL,628,NULL,'This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface \'nonself\' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18192,'NCBI Gene PubMed Count',NULL,628,NULL,NULL,NULL,21,NULL,NULL,NULL),(18193,'NCBI Gene Summary',NULL,629,NULL,'GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(18194,'NCBI Gene PubMed Count',NULL,629,NULL,NULL,NULL,9,NULL,NULL,NULL),(18195,'NCBI Gene Summary',NULL,630,NULL,'This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(18196,'NCBI Gene PubMed Count',NULL,630,NULL,NULL,NULL,62,NULL,NULL,NULL),(18197,'NCBI Gene Summary',NULL,631,NULL,'This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(18198,'NCBI Gene PubMed Count',NULL,631,NULL,NULL,NULL,15,NULL,NULL,NULL),(18199,'NCBI Gene PubMed Count',NULL,632,NULL,NULL,NULL,20,NULL,NULL,NULL),(18200,'NCBI Gene PubMed Count',NULL,633,NULL,NULL,NULL,20,NULL,NULL,NULL),(18201,'NCBI Gene PubMed Count',NULL,634,NULL,NULL,NULL,14,NULL,NULL,NULL),(18202,'NCBI Gene Summary',NULL,635,NULL,'The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(18203,'NCBI Gene PubMed Count',NULL,635,NULL,NULL,NULL,79,NULL,NULL,NULL),(18204,'NCBI Gene PubMed Count',NULL,636,NULL,NULL,NULL,0,NULL,NULL,NULL),(18205,'NCBI Gene PubMed Count',NULL,637,NULL,NULL,NULL,0,NULL,NULL,NULL),(18206,'NCBI Gene PubMed Count',NULL,638,NULL,NULL,NULL,0,NULL,NULL,NULL),(18207,'NCBI Gene Summary',NULL,639,NULL,'This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18208,'NCBI Gene PubMed Count',NULL,639,NULL,NULL,NULL,31,NULL,NULL,NULL),(18209,'NCBI Gene PubMed Count',NULL,640,NULL,NULL,NULL,6,NULL,NULL,NULL),(18210,'NCBI Gene Summary',NULL,641,NULL,'This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(18211,'NCBI Gene PubMed Count',NULL,641,NULL,NULL,NULL,79,NULL,NULL,NULL),(18212,'NCBI Gene Summary',NULL,642,NULL,'This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5\'-CGGA[AT]-3\'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(18213,'NCBI Gene PubMed Count',NULL,642,NULL,NULL,NULL,82,NULL,NULL,NULL),(18214,'NCBI Gene PubMed Count',NULL,643,NULL,NULL,NULL,15,NULL,NULL,NULL),(18215,'NCBI Gene Summary',NULL,644,NULL,'This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(18216,'NCBI Gene PubMed Count',NULL,644,NULL,NULL,NULL,113,NULL,NULL,NULL),(18217,'NCBI Gene PubMed Count',NULL,645,NULL,NULL,NULL,9,NULL,NULL,NULL),(18218,'NCBI Gene PubMed Count',NULL,646,NULL,NULL,NULL,10,NULL,NULL,NULL),(18219,'NCBI Gene Summary',NULL,647,NULL,'This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18220,'NCBI Gene PubMed Count',NULL,647,NULL,NULL,NULL,32,NULL,NULL,NULL),(18221,'NCBI Gene PubMed Count',NULL,648,NULL,NULL,NULL,8,NULL,NULL,NULL),(18222,'NCBI Gene PubMed Count',NULL,649,NULL,NULL,NULL,14,NULL,NULL,NULL),(18223,'NCBI Gene PubMed Count',NULL,650,NULL,NULL,NULL,39,NULL,NULL,NULL),(18224,'NCBI Gene PubMed Count',NULL,651,NULL,NULL,NULL,2,NULL,NULL,NULL),(18225,'NCBI Gene Summary',NULL,652,NULL,'This gene encodes a member of the even-skipped homeobox family characterized by the presence of a homeodomain closely related to the Drosophila even-skipped (eve) segmentation gene of the pair-rule class. The encoded protein may play an important role as a transcriptional repressor during embryogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18226,'NCBI Gene PubMed Count',NULL,652,NULL,NULL,NULL,10,NULL,NULL,NULL),(18227,'NCBI Gene Summary',NULL,653,NULL,'This gene is located at the 5\' end of the HOXD gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. A 117 kb microdeletion at the 5\' end of the HOXD gene cluster, which includes this gene and the HOXD9-HOXD13 genes, causes synpolydactyly, a dominantly inherited disease resulting in limb malformation. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(18228,'NCBI Gene PubMed Count',NULL,653,NULL,NULL,NULL,12,NULL,NULL,NULL),(18229,'NCBI Gene Summary',NULL,654,NULL,'This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(18230,'NCBI Gene PubMed Count',NULL,654,NULL,NULL,NULL,233,NULL,NULL,NULL),(18231,'NCBI Gene PubMed Count',NULL,655,NULL,NULL,NULL,7,NULL,NULL,NULL),(18232,'NCBI Gene Summary',NULL,656,NULL,'The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(18233,'NCBI Gene PubMed Count',NULL,656,NULL,NULL,NULL,23,NULL,NULL,NULL),(18234,'NCBI Gene Summary',NULL,657,NULL,'This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18235,'NCBI Gene PubMed Count',NULL,657,NULL,NULL,NULL,13,NULL,NULL,NULL),(18236,'NCBI Gene Summary',NULL,658,NULL,'The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(18237,'NCBI Gene PubMed Count',NULL,658,NULL,NULL,NULL,35,NULL,NULL,NULL),(18238,'NCBI Gene PubMed Count',NULL,659,NULL,NULL,NULL,5,NULL,NULL,NULL),(18239,'NCBI Gene PubMed Count',NULL,660,NULL,NULL,NULL,1,NULL,NULL,NULL),(18240,'NCBI Gene PubMed Count',NULL,661,NULL,NULL,NULL,5,NULL,NULL,NULL),(18241,'NCBI Gene Summary',NULL,662,NULL,'This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18242,'NCBI Gene PubMed Count',NULL,662,NULL,NULL,NULL,47,NULL,NULL,NULL),(18243,'NCBI Gene Summary',NULL,663,NULL,'The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18244,'NCBI Gene PubMed Count',NULL,663,NULL,NULL,NULL,130,NULL,NULL,NULL),(18245,'NCBI Gene PubMed Count',NULL,664,NULL,NULL,NULL,29,NULL,NULL,NULL),(18246,'NCBI Gene Summary',NULL,665,NULL,'Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(18247,'NCBI Gene PubMed Count',NULL,665,NULL,NULL,NULL,7,NULL,NULL,NULL),(18248,'NCBI Gene PubMed Count',NULL,666,NULL,NULL,NULL,15,NULL,NULL,NULL),(18249,'NCBI Gene PubMed Count',NULL,667,NULL,NULL,NULL,12,NULL,NULL,NULL),(18250,'NCBI Gene PubMed Count',NULL,669,NULL,NULL,NULL,11,NULL,NULL,NULL),(18251,'NCBI Gene PubMed Count',NULL,670,NULL,NULL,NULL,3,NULL,NULL,NULL),(18252,'NCBI Gene Summary',NULL,671,NULL,'This gene encodes a conserved, N-glycosylated protein that likely functions in the cellular response to endoplasmic reticulum stress. This protein is able to induce apoptosis in vitro in CD4+ T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(18253,'NCBI Gene PubMed Count',NULL,671,NULL,NULL,NULL,7,NULL,NULL,NULL),(18254,'NCBI Gene PubMed Count',NULL,672,NULL,NULL,NULL,7,NULL,NULL,NULL),(18255,'NCBI Gene PubMed Count',NULL,673,NULL,NULL,NULL,5,NULL,NULL,NULL),(18256,'NCBI Gene PubMed Count',NULL,674,NULL,NULL,NULL,7,NULL,NULL,NULL),(18257,'NCBI Gene PubMed Count',NULL,675,NULL,NULL,NULL,6,NULL,NULL,NULL),(18258,'NCBI Gene Summary',NULL,676,NULL,'The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(18259,'NCBI Gene PubMed Count',NULL,676,NULL,NULL,NULL,24,NULL,NULL,NULL),(18260,'NCBI Gene PubMed Count',NULL,677,NULL,NULL,NULL,77,NULL,NULL,NULL),(18261,'NCBI Gene Summary',NULL,678,NULL,'This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(18262,'NCBI Gene PubMed Count',NULL,678,NULL,NULL,NULL,1528,NULL,NULL,NULL),(18263,'NCBI Gene Summary',NULL,679,NULL,'This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(18264,'NCBI Gene PubMed Count',NULL,679,NULL,NULL,NULL,17,NULL,NULL,NULL),(18265,'NCBI Gene Summary',NULL,680,NULL,'This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(18266,'NCBI Gene PubMed Count',NULL,680,NULL,NULL,NULL,21,NULL,NULL,NULL),(18267,'NCBI Gene Summary',NULL,681,NULL,'This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(18268,'NCBI Gene PubMed Count',NULL,681,NULL,NULL,NULL,38,NULL,NULL,NULL),(18269,'NCBI Gene Summary',NULL,682,NULL,'This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(18270,'NCBI Gene PubMed Count',NULL,682,NULL,NULL,NULL,157,NULL,NULL,NULL),(18271,'NCBI Gene Summary',NULL,683,NULL,'The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(18272,'NCBI Gene PubMed Count',NULL,683,NULL,NULL,NULL,29,NULL,NULL,NULL),(18273,'NCBI Gene Summary',NULL,684,NULL,'This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18274,'NCBI Gene PubMed Count',NULL,684,NULL,NULL,NULL,50,NULL,NULL,NULL),(18275,'NCBI Gene Summary',NULL,685,NULL,'This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(18276,'NCBI Gene PubMed Count',NULL,685,NULL,NULL,NULL,199,NULL,NULL,NULL),(18277,'NCBI Gene Summary',NULL,686,NULL,'This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18278,'NCBI Gene PubMed Count',NULL,686,NULL,NULL,NULL,66,NULL,NULL,NULL),(18279,'NCBI Gene Summary',NULL,687,NULL,'This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(18280,'NCBI Gene PubMed Count',NULL,687,NULL,NULL,NULL,14,NULL,NULL,NULL),(18281,'NCBI Gene Summary',NULL,688,NULL,'This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18282,'NCBI Gene PubMed Count',NULL,688,NULL,NULL,NULL,172,NULL,NULL,NULL),(18283,'NCBI Gene Summary',NULL,689,NULL,'This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3\' to 5\' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(18284,'NCBI Gene PubMed Count',NULL,689,NULL,NULL,NULL,38,NULL,NULL,NULL),(18285,'NCBI Gene Summary',NULL,690,NULL,'This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3\' to 5\' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(18286,'NCBI Gene PubMed Count',NULL,690,NULL,NULL,NULL,23,NULL,NULL,NULL),(18287,'NCBI Gene Summary',NULL,691,NULL,'This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(18288,'NCBI Gene PubMed Count',NULL,691,NULL,NULL,NULL,102,NULL,NULL,NULL),(18289,'NCBI Gene Summary',NULL,692,NULL,'DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(18290,'NCBI Gene PubMed Count',NULL,692,NULL,NULL,NULL,22,NULL,NULL,NULL),(18291,'NCBI Gene Summary',NULL,693,NULL,'POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(18292,'NCBI Gene PubMed Count',NULL,693,NULL,NULL,NULL,17,NULL,NULL,NULL),(18293,'NCBI Gene Summary',NULL,694,NULL,'The protein encoded by this gene is a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18294,'NCBI Gene PubMed Count',NULL,694,NULL,NULL,NULL,21,NULL,NULL,NULL),(18295,'NCBI Gene Summary',NULL,695,NULL,'This gene encodes a protein that is a member of the M49 family of metallopeptidases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Increased activity of this protein is associated with endometrial and ovarian cancers. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(18296,'NCBI Gene PubMed Count',NULL,695,NULL,NULL,NULL,48,NULL,NULL,NULL),(18297,'NCBI Gene Summary',NULL,696,NULL,'The protein encoded by this gene is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18298,'NCBI Gene PubMed Count',NULL,696,NULL,NULL,NULL,432,NULL,NULL,NULL),(18299,'NCBI Gene Summary',NULL,697,NULL,'The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganization of the actin cytoskeleton. Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(18300,'NCBI Gene PubMed Count',NULL,697,NULL,NULL,NULL,220,NULL,NULL,NULL),(18301,'NCBI Gene Summary',NULL,698,NULL,'This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(18302,'NCBI Gene PubMed Count',NULL,698,NULL,NULL,NULL,44,NULL,NULL,NULL),(18303,'NCBI Gene Summary',NULL,699,NULL,'This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18304,'NCBI Gene PubMed Count',NULL,699,NULL,NULL,NULL,27,NULL,NULL,NULL),(18305,'NCBI Gene Summary',NULL,700,NULL,'This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18306,'NCBI Gene PubMed Count',NULL,700,NULL,NULL,NULL,35,NULL,NULL,NULL),(18307,'NCBI Gene Summary',NULL,701,NULL,'This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(18308,'NCBI Gene PubMed Count',NULL,701,NULL,NULL,NULL,29,NULL,NULL,NULL),(18309,'NCBI Gene Summary',NULL,702,NULL,'This gene encodes a protein that may function in the control of cell pluripotency and early embryogenesis. Expression of this gene is a specific marker for pluripotent stem cells. Pseudogenes of this gene are located on the short arm of chromosome 10 and the long arm of chromosomes 14 and 19. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(18310,'NCBI Gene PubMed Count',NULL,702,NULL,NULL,NULL,11,NULL,NULL,NULL),(18311,'NCBI Gene Summary',NULL,703,NULL,'This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(18312,'NCBI Gene PubMed Count',NULL,703,NULL,NULL,NULL,13,NULL,NULL,NULL),(18313,'NCBI Gene PubMed Count',NULL,704,NULL,NULL,NULL,50,NULL,NULL,NULL),(18314,'NCBI Gene Summary',NULL,705,NULL,'Members of the protein-tyrosine phosphatase superfamily cooperate with protein kinases to regulate cell proliferation and  differentiation. This superfamily is separated into two families based on the substrate that is dephosphorylated. One family, the dual specificity phosphatases (DSPs) acts on both phosphotyrosine and phosphoserine/threonine residues. This gene encodes different but related DSP proteins through the use of non-overlapping open reading frames, alternate splicing, and presumed different transcription promoters. Expression of the distinct proteins from this gene has been found to be tissue specific and the proteins may be involved in postnatal development of specific tissues. A protein encoded by the upstream ORF was found in skeletal muscle, whereas the encoded protein from the downstream ORF was found only in testis. In mouse, a similar pattern of expression was found. Multiple alternatively spliced transcript variants were described, but the full-length sequence of only some were determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18315,'NCBI Gene PubMed Count',NULL,705,NULL,NULL,NULL,14,NULL,NULL,NULL),(18316,'NCBI Gene Summary',NULL,706,NULL,'This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(18317,'NCBI Gene PubMed Count',NULL,706,NULL,NULL,NULL,16,NULL,NULL,NULL),(18318,'NCBI Gene Summary',NULL,707,NULL,'This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(18319,'NCBI Gene PubMed Count',NULL,707,NULL,NULL,NULL,231,NULL,NULL,NULL),(18320,'NCBI Gene PubMed Count',NULL,708,NULL,NULL,NULL,5,NULL,NULL,NULL),(18321,'NCBI Gene PubMed Count',NULL,709,NULL,NULL,NULL,13,NULL,NULL,NULL),(18322,'NCBI Gene Summary',NULL,710,NULL,'This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(18323,'NCBI Gene PubMed Count',NULL,710,NULL,NULL,NULL,9,NULL,NULL,NULL),(18324,'NCBI Gene Summary',NULL,711,NULL,'ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(18325,'NCBI Gene PubMed Count',NULL,711,NULL,NULL,NULL,20,NULL,NULL,NULL),(18326,'NCBI Gene Summary',NULL,712,NULL,'This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18327,'NCBI Gene PubMed Count',NULL,712,NULL,NULL,NULL,580,NULL,NULL,NULL),(18328,'NCBI Gene Summary',NULL,713,NULL,'The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(18329,'NCBI Gene PubMed Count',NULL,713,NULL,NULL,NULL,18,NULL,NULL,NULL),(18330,'NCBI Gene Summary',NULL,714,NULL,'This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]',NULL,NULL,NULL,NULL,NULL),(18331,'NCBI Gene PubMed Count',NULL,714,NULL,NULL,NULL,77,NULL,NULL,NULL),(18332,'NCBI Gene Summary',NULL,715,NULL,'This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(18333,'NCBI Gene PubMed Count',NULL,715,NULL,NULL,NULL,21,NULL,NULL,NULL),(18334,'NCBI Gene PubMed Count',NULL,716,NULL,NULL,NULL,12,NULL,NULL,NULL),(18335,'NCBI Gene Summary',NULL,717,NULL,'This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(18336,'NCBI Gene PubMed Count',NULL,717,NULL,NULL,NULL,256,NULL,NULL,NULL),(18337,'NCBI Gene Summary',NULL,718,NULL,'This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(18338,'NCBI Gene PubMed Count',NULL,718,NULL,NULL,NULL,10,NULL,NULL,NULL),(18339,'NCBI Gene PubMed Count',NULL,719,NULL,NULL,NULL,7,NULL,NULL,NULL),(18340,'NCBI Gene Summary',NULL,720,NULL,'This gene encodes a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF2) family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/SNF protein family member is that during interphase, the protein is excluded from the nucleus, and only associates with chromatin after the nuclear envelope has broken down. This protein is a DNA translocase that is thought to bind double-stranded DNA that is exposed to stretching forces, such as those exerted by the mitotic spindle. This protein associates with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine structures that connect sister chromatids during anaphase at some sites such as fragile sites, telomeres and centromeres. This gene is required for the faithful segregation of sister chromatids during mitosis, and the ATPase activity of this protein required for the resolution of UFBs before cytokinesis. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(18341,'NCBI Gene PubMed Count',NULL,720,NULL,NULL,NULL,30,NULL,NULL,NULL),(18342,'NCBI Gene Summary',NULL,721,NULL,'The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5\' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(18343,'NCBI Gene PubMed Count',NULL,721,NULL,NULL,NULL,623,NULL,NULL,NULL),(18344,'NCBI Gene Summary',NULL,722,NULL,'The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(18345,'NCBI Gene PubMed Count',NULL,722,NULL,NULL,NULL,797,NULL,NULL,NULL),(18346,'NCBI Gene Summary',NULL,723,NULL,'This gene encodes a single-strand specific DNA endonuclease that makes the 3\' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(18347,'NCBI Gene PubMed Count',NULL,723,NULL,NULL,NULL,242,NULL,NULL,NULL),(18348,'NCBI Gene Summary',NULL,724,NULL,'This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3\' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(18349,'NCBI Gene PubMed Count',NULL,724,NULL,NULL,NULL,184,NULL,NULL,NULL),(18350,'NCBI Gene Summary',NULL,725,NULL,'This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(18351,'NCBI Gene PubMed Count',NULL,725,NULL,NULL,NULL,52,NULL,NULL,NULL),(18352,'NCBI Gene Summary',NULL,726,NULL,'ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(18353,'NCBI Gene PubMed Count',NULL,726,NULL,NULL,NULL,28,NULL,NULL,NULL),(18354,'NCBI Gene Summary',NULL,727,NULL,'Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18355,'NCBI Gene PubMed Count',NULL,727,NULL,NULL,NULL,28,NULL,NULL,NULL),(18356,'NCBI Gene PubMed Count',NULL,728,NULL,NULL,NULL,13,NULL,NULL,NULL),(18357,'NCBI Gene PubMed Count',NULL,729,NULL,NULL,NULL,21,NULL,NULL,NULL),(18358,'NCBI Gene PubMed Count',NULL,730,NULL,NULL,NULL,18,NULL,NULL,NULL),(18359,'NCBI Gene Summary',NULL,731,NULL,'The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(18360,'NCBI Gene PubMed Count',NULL,731,NULL,NULL,NULL,32,NULL,NULL,NULL),(18361,'NCBI Gene Summary',NULL,732,NULL,'This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18362,'NCBI Gene PubMed Count',NULL,732,NULL,NULL,NULL,19,NULL,NULL,NULL),(18363,'NCBI Gene PubMed Count',NULL,733,NULL,NULL,NULL,4,NULL,NULL,NULL),(18364,'NCBI Gene Summary',NULL,734,NULL,'This gene is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18365,'NCBI Gene PubMed Count',NULL,734,NULL,NULL,NULL,2,NULL,NULL,NULL),(18366,'NCBI Gene Summary',NULL,735,NULL,'This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of unfolded proteins in the endoplasmic reticulum (ER) and triggers an intracellular signaling pathway termed the unfolded protein response (UPR). The UPR is an ER stress response that is conserved from yeast to mammals and activates genes involved in degrading misfolded proteins, regulating protein synthesis and activating molecular chaperones. This protein specifically mediates the splicing and activation of the stress response transcription factor X-box binding protein 1. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(18367,'NCBI Gene PubMed Count',NULL,735,NULL,NULL,NULL,186,NULL,NULL,NULL),(18368,'NCBI Gene Summary',NULL,736,NULL,'This gene encodes a G protein-coupled receptor that acts as a chemokine receptor for human immunodeficiency virus type 1 and 2. The encoded protein localizes to the cell membrane. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(18369,'NCBI Gene PubMed Count',NULL,736,NULL,NULL,NULL,25,NULL,NULL,NULL),(18370,'NCBI Gene PubMed Count',NULL,737,NULL,NULL,NULL,25,NULL,NULL,NULL),(18371,'NCBI Gene PubMed Count',NULL,738,NULL,NULL,NULL,10,NULL,NULL,NULL),(18372,'NCBI Gene PubMed Count',NULL,739,NULL,NULL,NULL,61,NULL,NULL,NULL),(18373,'NCBI Gene Summary',NULL,740,NULL,'This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18374,'NCBI Gene PubMed Count',NULL,740,NULL,NULL,NULL,11,NULL,NULL,NULL),(18375,'NCBI Gene Summary',NULL,741,NULL,'This gene is intronless and encodes a member of the G-protein coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. This gene has been linked to arterial stiffness. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(18376,'NCBI Gene PubMed Count',NULL,741,NULL,NULL,NULL,6,NULL,NULL,NULL),(18377,'NCBI Gene Summary',NULL,742,NULL,'This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(18378,'NCBI Gene PubMed Count',NULL,742,NULL,NULL,NULL,14,NULL,NULL,NULL),(18379,'NCBI Gene PubMed Count',NULL,743,NULL,NULL,NULL,8,NULL,NULL,NULL),(18380,'NCBI Gene Summary',NULL,744,NULL,'This gene is intronless and encodes a member of the G-protein coupled receptor 1 family. The encoded protein binds to resolvin D1 and lipoxin A4 and has been linked to pulmonary inflammation. A related pseudogene has been identified on chromosome 19. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(18381,'NCBI Gene PubMed Count',NULL,744,NULL,NULL,NULL,11,NULL,NULL,NULL),(18382,'NCBI Gene Summary',NULL,745,NULL,'This gene has been identified as an orphan chemoattractant G-protein-coupled receptors (GPCR) pseudogene. Studies have shown that the inactivated gene is present as the predominant allele in the human population. A small fraction of the human population has been found to harbor an intact allele.[provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(18383,'NCBI Gene PubMed Count',NULL,745,NULL,NULL,NULL,4,NULL,NULL,NULL),(18384,'NCBI Gene Summary',NULL,746,NULL,'G protein-coupled receptors (GPCRs), such as GPR34, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM, Apr 2006]',NULL,NULL,NULL,NULL,NULL),(18385,'NCBI Gene PubMed Count',NULL,746,NULL,NULL,NULL,17,NULL,NULL,NULL),(18386,'NCBI Gene Summary',NULL,747,NULL,'This gene is a member of the ghrelin receptor family and encodes a rhodopsin-type G-protein-coupled receptor (GPCR). The encoded protein is involved in zinc-dependent signaling in epithelial tissue in intestines, prostate and salivary glands. The protein may also be involved in the pathophysiology of depression. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(18387,'NCBI Gene PubMed Count',NULL,747,NULL,NULL,NULL,40,NULL,NULL,NULL),(18388,'NCBI Gene PubMed Count',NULL,748,NULL,NULL,NULL,8,NULL,NULL,NULL),(18389,'NCBI Gene Summary',NULL,749,NULL,'This intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes to the interior of the cell via activation of heterotrimeric G proteins. This protein may function in the central nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18390,'NCBI Gene PubMed Count',NULL,749,NULL,NULL,NULL,9,NULL,NULL,NULL),(18391,'NCBI Gene Summary',NULL,750,NULL,'G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(18392,'NCBI Gene PubMed Count',NULL,750,NULL,NULL,NULL,35,NULL,NULL,NULL),(18393,'NCBI Gene Summary',NULL,751,NULL,'The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(18394,'NCBI Gene PubMed Count',NULL,751,NULL,NULL,NULL,49,NULL,NULL,NULL),(18395,'NCBI Gene PubMed Count',NULL,752,NULL,NULL,NULL,11,NULL,NULL,NULL),(18396,'NCBI Gene Summary',NULL,753,NULL,'This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3\' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(18397,'NCBI Gene PubMed Count',NULL,753,NULL,NULL,NULL,184,NULL,NULL,NULL),(18398,'NCBI Gene Summary',NULL,754,NULL,'The protein encoded by this gene is a nuclear receptor that is closely related to the estrogen receptor. This protein acts as a site-specific transcription regulator and has been also shown to interact with estrogen and the transcripton factor TFIIB by direct protein-protein contact. The binding and regulatory activities of this protein have been demonstrated in the regulation of a variety of genes including lactoferrin, osteopontin, medium-chain acyl coenzyme A dehydrogenase (MCAD) and thyroid hormone receptor genes. A processed pseudogene of ESRRA is located on chromosome 13q12.1. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(18399,'NCBI Gene PubMed Count',NULL,754,NULL,NULL,NULL,144,NULL,NULL,NULL),(18400,'NCBI Gene PubMed Count',NULL,755,NULL,NULL,NULL,7,NULL,NULL,NULL),(18401,'NCBI Gene Summary',NULL,756,NULL,'This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18402,'NCBI Gene PubMed Count',NULL,756,NULL,NULL,NULL,47,NULL,NULL,NULL),(18403,'NCBI Gene Summary',NULL,757,NULL,'This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5\' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(18404,'NCBI Gene PubMed Count',NULL,757,NULL,NULL,NULL,90,NULL,NULL,NULL),(18405,'NCBI Gene Summary',NULL,758,NULL,'This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(18406,'NCBI Gene PubMed Count',NULL,758,NULL,NULL,NULL,177,NULL,NULL,NULL),(18407,'NCBI Gene Summary',NULL,759,NULL,'ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(18408,'NCBI Gene PubMed Count',NULL,759,NULL,NULL,NULL,76,NULL,NULL,NULL),(18409,'NCBI Gene Summary',NULL,760,NULL,'The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants have been found for this gene. Pseudogenes of this locus have been identified on chromosomes X and 21. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(18410,'NCBI Gene PubMed Count',NULL,760,NULL,NULL,NULL,326,NULL,NULL,NULL),(18411,'NCBI Gene Summary',NULL,761,NULL,'The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is predominantly expressed in the gastrointestinal tract (also in liver in human), is localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. Overexpression of this gene is associated with increased differentiation and proliferation in colorectal cancer. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(18412,'NCBI Gene PubMed Count',NULL,761,NULL,NULL,NULL,51,NULL,NULL,NULL),(18413,'NCBI Gene Summary',NULL,762,NULL,'The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted, and is abundantly found in plasma. Downregulation of expression of this gene by promoter hypermethylation has been observed in a wide spectrum of human malignancies, including thyroid cancer, hepatocellular carcinoma and chronic myeloid leukemia. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(18414,'NCBI Gene PubMed Count',NULL,762,NULL,NULL,NULL,95,NULL,NULL,NULL),(18415,'NCBI Gene PubMed Count',NULL,763,NULL,NULL,NULL,15,NULL,NULL,NULL),(18416,'NCBI Gene PubMed Count',NULL,764,NULL,NULL,NULL,24,NULL,NULL,NULL),(18417,'NCBI Gene Summary',NULL,765,NULL,'This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(18418,'NCBI Gene PubMed Count',NULL,765,NULL,NULL,NULL,102,NULL,NULL,NULL),(18419,'NCBI Gene PubMed Count',NULL,766,NULL,NULL,NULL,4,NULL,NULL,NULL),(18420,'NCBI Gene Summary',NULL,767,NULL,'This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(18421,'NCBI Gene PubMed Count',NULL,767,NULL,NULL,NULL,2853,NULL,NULL,NULL),(18422,'NCBI Gene Summary',NULL,768,NULL,'This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene is expressed in several tissues, particularly in colon, trachea and in brain, and the protein participates in colon and neural drug metabolism. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported, but the biological validity and/or full-length nature of some variants have not been determined.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(18423,'NCBI Gene PubMed Count',NULL,768,NULL,NULL,NULL,16,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (18424,'NCBI Gene Summary',NULL,769,NULL,'This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(18425,'NCBI Gene PubMed Count',NULL,769,NULL,NULL,NULL,9,NULL,NULL,NULL),(18426,'NCBI Gene Summary',NULL,770,NULL,'This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(18427,'NCBI Gene PubMed Count',NULL,770,NULL,NULL,NULL,11,NULL,NULL,NULL),(18428,'NCBI Gene PubMed Count',NULL,771,NULL,NULL,NULL,3,NULL,NULL,NULL),(18429,'NCBI Gene Summary',NULL,772,NULL,'This gene encodes a member of the peptidase S1 family of serine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a chymotrypsin-like protease. This protein is reported to be constitutively expressed in the NK (natural killer) cells of the immune system and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. This gene is present in a gene cluster with another member of the granzyme subfamily on chromosome 14. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(18430,'NCBI Gene PubMed Count',NULL,772,NULL,NULL,NULL,25,NULL,NULL,NULL),(18431,'NCBI Gene Summary',NULL,773,NULL,'Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes and include 4 distinct gene products: granzyme A, granzyme B, granzyme H, and the protein encoded by this gene, granzyme M. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(18432,'NCBI Gene PubMed Count',NULL,773,NULL,NULL,NULL,25,NULL,NULL,NULL),(18433,'NCBI Gene Summary',NULL,774,NULL,'This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(18434,'NCBI Gene PubMed Count',NULL,774,NULL,NULL,NULL,24,NULL,NULL,NULL),(18435,'NCBI Gene Summary',NULL,775,NULL,'This gene encodes a guanine nucleotide exchange factor for the Ras family of small G proteins (RasGEF). The encoded protein interacts in a complex with glutamate receptor interacting protein 1 (GRIP1) and plays a role in the regulation of AMPA receptor function. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(18436,'NCBI Gene PubMed Count',NULL,775,NULL,NULL,NULL,16,NULL,NULL,NULL),(18437,'NCBI Gene PubMed Count',NULL,776,NULL,NULL,NULL,1,NULL,NULL,NULL),(18438,'NCBI Gene Summary',NULL,777,NULL,'This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(18439,'NCBI Gene PubMed Count',NULL,777,NULL,NULL,NULL,15,NULL,NULL,NULL),(18440,'NCBI Gene PubMed Count',NULL,778,NULL,NULL,NULL,11,NULL,NULL,NULL),(18441,'NCBI Gene Summary',NULL,779,NULL,'The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(18442,'NCBI Gene PubMed Count',NULL,779,NULL,NULL,NULL,47,NULL,NULL,NULL),(18443,'NCBI Gene PubMed Count',NULL,780,NULL,NULL,NULL,7,NULL,NULL,NULL),(18444,'NCBI Gene Summary',NULL,781,NULL,'The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18445,'NCBI Gene PubMed Count',NULL,781,NULL,NULL,NULL,538,NULL,NULL,NULL),(18446,'NCBI Gene Summary',NULL,782,NULL,'The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(18447,'NCBI Gene PubMed Count',NULL,782,NULL,NULL,NULL,75,NULL,NULL,NULL),(18448,'NCBI Gene Summary',NULL,783,NULL,'ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18449,'NCBI Gene PubMed Count',NULL,783,NULL,NULL,NULL,35,NULL,NULL,NULL),(18450,'NCBI Gene Summary',NULL,784,NULL,'The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(18451,'NCBI Gene PubMed Count',NULL,784,NULL,NULL,NULL,142,NULL,NULL,NULL),(18452,'NCBI Gene Summary',NULL,785,NULL,'This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(18453,'NCBI Gene PubMed Count',NULL,785,NULL,NULL,NULL,678,NULL,NULL,NULL),(18454,'NCBI Gene PubMed Count',NULL,786,NULL,NULL,NULL,6,NULL,NULL,NULL),(18455,'NCBI Gene Summary',NULL,787,NULL,'This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(18456,'NCBI Gene PubMed Count',NULL,787,NULL,NULL,NULL,41,NULL,NULL,NULL),(18457,'NCBI Gene Summary',NULL,788,NULL,'This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18458,'NCBI Gene PubMed Count',NULL,788,NULL,NULL,NULL,26,NULL,NULL,NULL),(18459,'NCBI Gene Summary',NULL,789,NULL,'This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(18460,'NCBI Gene PubMed Count',NULL,789,NULL,NULL,NULL,35,NULL,NULL,NULL),(18461,'NCBI Gene Summary',NULL,790,NULL,'This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(18462,'NCBI Gene PubMed Count',NULL,790,NULL,NULL,NULL,7,NULL,NULL,NULL),(18463,'NCBI Gene Summary',NULL,791,NULL,'The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5\'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18464,'NCBI Gene PubMed Count',NULL,791,NULL,NULL,NULL,18,NULL,NULL,NULL),(18465,'NCBI Gene Summary',NULL,792,NULL,'The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(18466,'NCBI Gene PubMed Count',NULL,792,NULL,NULL,NULL,193,NULL,NULL,NULL),(18467,'NCBI Gene Summary',NULL,793,NULL,'This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(18468,'NCBI Gene PubMed Count',NULL,793,NULL,NULL,NULL,76,NULL,NULL,NULL),(18469,'NCBI Gene Summary',NULL,794,NULL,'This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(18470,'NCBI Gene PubMed Count',NULL,794,NULL,NULL,NULL,437,NULL,NULL,NULL),(18471,'NCBI Gene Summary',NULL,795,NULL,'This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18472,'NCBI Gene PubMed Count',NULL,795,NULL,NULL,NULL,31,NULL,NULL,NULL),(18473,'NCBI Gene Summary',NULL,796,NULL,'Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18474,'NCBI Gene PubMed Count',NULL,796,NULL,NULL,NULL,65,NULL,NULL,NULL),(18475,'NCBI Gene Summary',NULL,797,NULL,'The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3\' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(18476,'NCBI Gene PubMed Count',NULL,797,NULL,NULL,NULL,18,NULL,NULL,NULL),(18477,'NCBI Gene Summary',NULL,798,NULL,'Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18478,'NCBI Gene PubMed Count',NULL,798,NULL,NULL,NULL,127,NULL,NULL,NULL),(18479,'NCBI Gene PubMed Count',NULL,799,NULL,NULL,NULL,7,NULL,NULL,NULL),(18480,'NCBI Gene Summary',NULL,800,NULL,'This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18481,'NCBI Gene PubMed Count',NULL,800,NULL,NULL,NULL,293,NULL,NULL,NULL),(18482,'NCBI Gene Summary',NULL,801,NULL,'This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(18483,'NCBI Gene PubMed Count',NULL,801,NULL,NULL,NULL,56,NULL,NULL,NULL),(18484,'NCBI Gene PubMed Count',NULL,802,NULL,NULL,NULL,42,NULL,NULL,NULL),(18485,'NCBI Gene Summary',NULL,803,NULL,'This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing\'s sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(18486,'NCBI Gene PubMed Count',NULL,803,NULL,NULL,NULL,390,NULL,NULL,NULL),(18487,'NCBI Gene PubMed Count',NULL,804,NULL,NULL,NULL,25,NULL,NULL,NULL),(18488,'NCBI Gene Summary',NULL,805,NULL,'This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(18489,'NCBI Gene PubMed Count',NULL,805,NULL,NULL,NULL,22,NULL,NULL,NULL),(18490,'NCBI Gene PubMed Count',NULL,806,NULL,NULL,NULL,11,NULL,NULL,NULL),(18491,'NCBI Gene PubMed Count',NULL,807,NULL,NULL,NULL,9,NULL,NULL,NULL),(18492,'NCBI Gene Summary',NULL,808,NULL,'This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(18493,'NCBI Gene PubMed Count',NULL,808,NULL,NULL,NULL,29,NULL,NULL,NULL),(18494,'NCBI Gene PubMed Count',NULL,809,NULL,NULL,NULL,6,NULL,NULL,NULL),(18495,'NCBI Gene PubMed Count',NULL,810,NULL,NULL,NULL,23,NULL,NULL,NULL),(18496,'NCBI Gene Summary',NULL,811,NULL,'GPR27 is a member of the G protein-coupled receptors (GPCRs), a large family of receptors that have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli such as neurotransmitters, hormones, or light induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins.[supplied by OMIM, May 2010]',NULL,NULL,NULL,NULL,NULL),(18497,'NCBI Gene PubMed Count',NULL,811,NULL,NULL,NULL,2,NULL,NULL,NULL),(18498,'NCBI Gene Summary',NULL,812,NULL,'This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, suggesting that this protein does not function as a disulfide isomerase. The canonical protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(18499,'NCBI Gene PubMed Count',NULL,812,NULL,NULL,NULL,49,NULL,NULL,NULL),(18500,'NCBI Gene PubMed Count',NULL,813,NULL,NULL,NULL,28,NULL,NULL,NULL),(18501,'NCBI Gene Summary',NULL,814,NULL,'This gene is a member of the G protein-coupled receptor family. The encoded protein contains seven transmembrane domains and is found in cell and endoplasmic reticulum membranes. G protein-coupled receptors are involved in translating outside signals into G protein mediated intracellular effects. This gene product interacts with Parkin and is involved in juvenile Parkinson disease. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(18502,'NCBI Gene PubMed Count',NULL,814,NULL,NULL,NULL,31,NULL,NULL,NULL),(18503,'NCBI Gene Summary',NULL,815,NULL,'This gene is a member of the G protein-coupled receptor family and is found in the cell membrane. G protein-coupled receptors, characterized by a seven transmembrane domain motif, are involved in translating outside signals into G protein mediated intracellular effects. The encoded protein activates adenylate cyclase and modulates amyloid-beta production in a mouse model, suggesting that it may play a role in Alzheimer\'s disease. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(18504,'NCBI Gene PubMed Count',NULL,815,NULL,NULL,NULL,17,NULL,NULL,NULL),(18505,'NCBI Gene PubMed Count',NULL,816,NULL,NULL,NULL,28,NULL,NULL,NULL),(18506,'NCBI Gene Summary',NULL,817,NULL,'Members of the G protein-coupled receptor (GPR) family play important roles in signal transduction from the external environment to the inside of the cell.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(18507,'NCBI Gene PubMed Count',NULL,817,NULL,NULL,NULL,8,NULL,NULL,NULL),(18508,'NCBI Gene Summary',NULL,818,NULL,'This gene belongs to the G-protein-coupled receptor superfamily. The encoded integral membrane protein is a likely cannabinoid receptor. It may be involved in several physiological and pathological processes by activating a variety of signal transduction pathways. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(18509,'NCBI Gene PubMed Count',NULL,818,NULL,NULL,NULL,108,NULL,NULL,NULL),(18510,'NCBI Gene Summary',NULL,819,NULL,'This gene belongs to the G-protein coupled receptor 1 family. G protein-coupled receptors contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. The protein encoded by this gene is most closely related to biogenic amine receptors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18511,'NCBI Gene PubMed Count',NULL,819,NULL,NULL,NULL,13,NULL,NULL,NULL),(18512,'NCBI Gene PubMed Count',NULL,820,NULL,NULL,NULL,5,NULL,NULL,NULL),(18513,'NCBI Gene Summary',NULL,821,NULL,'This gene encodes a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(18514,'NCBI Gene PubMed Count',NULL,821,NULL,NULL,NULL,12,NULL,NULL,NULL),(18515,'NCBI Gene PubMed Count',NULL,822,NULL,NULL,NULL,9,NULL,NULL,NULL),(18516,'NCBI Gene Summary',NULL,823,NULL,'GPR75 is a member of the G protein-coupled receptor family. GPRs are cell surface receptors that activate guanine-nucleotide binding proteins upon the binding of a ligand.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(18517,'NCBI Gene PubMed Count',NULL,823,NULL,NULL,NULL,5,NULL,NULL,NULL),(18518,'NCBI Gene Summary',NULL,824,NULL,'The protein encoded by this gene belongs to the G protein-coupled receptor family, which contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. This is an orphan receptor, which displays significant level of constitutive activity. Association analysis shows preliminary evidence for the involvement of this gene in susceptibility to bipolar affective disorder and schizophrenia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(18519,'NCBI Gene PubMed Count',NULL,824,NULL,NULL,NULL,12,NULL,NULL,NULL),(18520,'NCBI Gene Summary',NULL,825,NULL,'The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(18521,'NCBI Gene PubMed Count',NULL,825,NULL,NULL,NULL,5,NULL,NULL,NULL),(18522,'NCBI Gene PubMed Count',NULL,826,NULL,NULL,NULL,9,NULL,NULL,NULL),(18523,'NCBI Gene PubMed Count',NULL,827,NULL,NULL,NULL,15,NULL,NULL,NULL),(18524,'NCBI Gene Summary',NULL,828,NULL,'Members of the G protein-coupled receptor (GPCR) family, such as GPR85, have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli, such as neurotransmitters, hormones, or light, induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins (Matsumoto et al., 2000 [PubMed 10833454]).[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(18525,'NCBI Gene PubMed Count',NULL,828,NULL,NULL,NULL,18,NULL,NULL,NULL),(18526,'NCBI Gene Summary',NULL,829,NULL,'This gene encodes a G protein-coupled receptor and is located in a cluster of G protein-couple receptor genes on chromosome 3. The encoded protein has been shown to be overexpressed in lung squamous cell carcinoma (PMID:18057535) and regulated by p53 (PMID:19602589). [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(18527,'NCBI Gene PubMed Count',NULL,829,NULL,NULL,NULL,16,NULL,NULL,NULL),(18528,'NCBI Gene Summary',NULL,830,NULL,'The protein encoded by this gene is a G protein-coupled receptor found almost exclusively in the striatum, a brain structure that controls motor function and cognition. Defects in this gene have been associated with chorea, speech delay, and learning difficulties, as well as some neuropsychiatric disorders. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(18529,'NCBI Gene PubMed Count',NULL,830,NULL,NULL,NULL,8,NULL,NULL,NULL),(18530,'NCBI Gene PubMed Count',NULL,831,NULL,NULL,NULL,8,NULL,NULL,NULL),(18531,'NCBI Gene Summary',NULL,832,NULL,'This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. When overexpressed in mammalian cells, this gene could potently suppress a RAS- and MAPK-mediated signal and interfere with JNK activity, suggesting that the function of this gene may be signal repression. The encoded protein is an integral subunit of the NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3) complex, and it was shown that the complex inhibits JNK activation through this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antagonism of AP1 (activator protein 1) function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18532,'NCBI Gene PubMed Count',NULL,832,NULL,NULL,NULL,40,NULL,NULL,NULL),(18533,'NCBI Gene PubMed Count',NULL,833,NULL,NULL,NULL,24,NULL,NULL,NULL),(18534,'NCBI Gene PubMed Count',NULL,834,NULL,NULL,NULL,9,NULL,NULL,NULL),(18535,'NCBI Gene PubMed Count',NULL,835,NULL,NULL,NULL,9,NULL,NULL,NULL),(18536,'NCBI Gene Summary',NULL,836,NULL,'The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(18537,'NCBI Gene PubMed Count',NULL,836,NULL,NULL,NULL,14,NULL,NULL,NULL),(18538,'NCBI Gene PubMed Count',NULL,837,NULL,NULL,NULL,9,NULL,NULL,NULL),(18539,'NCBI Gene Summary',NULL,838,NULL,'The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(18540,'NCBI Gene PubMed Count',NULL,838,NULL,NULL,NULL,19,NULL,NULL,NULL),(18541,'NCBI Gene Summary',NULL,839,NULL,'The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18542,'NCBI Gene PubMed Count',NULL,839,NULL,NULL,NULL,38,NULL,NULL,NULL),(18543,'NCBI Gene Summary',NULL,840,NULL,'Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(18544,'NCBI Gene PubMed Count',NULL,840,NULL,NULL,NULL,33,NULL,NULL,NULL),(18545,'NCBI Gene Summary',NULL,841,NULL,'The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a \'moonlighting\' protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Transcript variants resulting from alternative splicing or use of alternate promoters have been described to encode isoforms with different subcellular localization. [provided by RefSeq, Dec 2018]',NULL,NULL,NULL,NULL,NULL),(18546,'NCBI Gene PubMed Count',NULL,841,NULL,NULL,NULL,103,NULL,NULL,NULL),(18547,'NCBI Gene Summary',NULL,842,NULL,'This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(18548,'NCBI Gene PubMed Count',NULL,842,NULL,NULL,NULL,6,NULL,NULL,NULL),(18549,'NCBI Gene Summary',NULL,843,NULL,'This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(18550,'NCBI Gene PubMed Count',NULL,843,NULL,NULL,NULL,6,NULL,NULL,NULL),(18551,'NCBI Gene Summary',NULL,844,NULL,'This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(18552,'NCBI Gene PubMed Count',NULL,844,NULL,NULL,NULL,6,NULL,NULL,NULL),(18553,'NCBI Gene Summary',NULL,845,NULL,'GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(18554,'NCBI Gene PubMed Count',NULL,845,NULL,NULL,NULL,42,NULL,NULL,NULL),(18555,'NCBI Gene PubMed Count',NULL,846,NULL,NULL,NULL,8,NULL,NULL,NULL),(18556,'NCBI Gene PubMed Count',NULL,847,NULL,NULL,NULL,6,NULL,NULL,NULL),(18557,'NCBI Gene Summary',NULL,848,NULL,'This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(18558,'NCBI Gene PubMed Count',NULL,848,NULL,NULL,NULL,15,NULL,NULL,NULL),(18559,'NCBI Gene Summary',NULL,849,NULL,'This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(18560,'NCBI Gene PubMed Count',NULL,849,NULL,NULL,NULL,14,NULL,NULL,NULL),(18561,'NCBI Gene Summary',NULL,850,NULL,'The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18562,'NCBI Gene PubMed Count',NULL,850,NULL,NULL,NULL,38,NULL,NULL,NULL),(18563,'NCBI Gene Summary',NULL,851,NULL,'This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(18564,'NCBI Gene PubMed Count',NULL,851,NULL,NULL,NULL,32,NULL,NULL,NULL),(18565,'NCBI Gene Summary',NULL,852,NULL,'GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(18566,'NCBI Gene PubMed Count',NULL,852,NULL,NULL,NULL,17,NULL,NULL,NULL),(18567,'NCBI Gene Summary',NULL,853,NULL,'Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18568,'NCBI Gene PubMed Count',NULL,853,NULL,NULL,NULL,52,NULL,NULL,NULL),(18569,'NCBI Gene Summary',NULL,854,NULL,'The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18570,'NCBI Gene PubMed Count',NULL,854,NULL,NULL,NULL,81,NULL,NULL,NULL),(18571,'NCBI Gene Summary',NULL,855,NULL,'This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18572,'NCBI Gene PubMed Count',NULL,855,NULL,NULL,NULL,126,NULL,NULL,NULL),(18573,'NCBI Gene Summary',NULL,856,NULL,'The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18574,'NCBI Gene PubMed Count',NULL,856,NULL,NULL,NULL,25,NULL,NULL,NULL),(18575,'NCBI Gene Summary',NULL,857,NULL,'This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(18576,'NCBI Gene PubMed Count',NULL,857,NULL,NULL,NULL,24,NULL,NULL,NULL),(18577,'NCBI Gene Summary',NULL,858,NULL,'This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18578,'NCBI Gene PubMed Count',NULL,858,NULL,NULL,NULL,59,NULL,NULL,NULL),(18579,'NCBI Gene Summary',NULL,859,NULL,'This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18580,'NCBI Gene PubMed Count',NULL,859,NULL,NULL,NULL,65,NULL,NULL,NULL),(18581,'NCBI Gene PubMed Count',NULL,860,NULL,NULL,NULL,10,NULL,NULL,NULL),(18582,'NCBI Gene Summary',NULL,861,NULL,'The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(18583,'NCBI Gene PubMed Count',NULL,861,NULL,NULL,NULL,11,NULL,NULL,NULL),(18584,'NCBI Gene PubMed Count',NULL,862,NULL,NULL,NULL,17,NULL,NULL,NULL),(18585,'NCBI Gene Summary',NULL,863,NULL,'The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(18586,'NCBI Gene PubMed Count',NULL,863,NULL,NULL,NULL,14,NULL,NULL,NULL),(18587,'NCBI Gene Summary',NULL,864,NULL,'This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells). Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins, namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear, cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18588,'NCBI Gene PubMed Count',NULL,864,NULL,NULL,NULL,9,NULL,NULL,NULL),(18589,'NCBI Gene Summary',NULL,865,NULL,'This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(18590,'NCBI Gene PubMed Count',NULL,865,NULL,NULL,NULL,22,NULL,NULL,NULL),(18591,'NCBI Gene PubMed Count',NULL,866,NULL,NULL,NULL,13,NULL,NULL,NULL),(18592,'NCBI Gene PubMed Count',NULL,867,NULL,NULL,NULL,8,NULL,NULL,NULL),(18593,'NCBI Gene Summary',NULL,868,NULL,'This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(18594,'NCBI Gene PubMed Count',NULL,868,NULL,NULL,NULL,40,NULL,NULL,NULL),(18595,'NCBI Gene Summary',NULL,869,NULL,'This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(18596,'NCBI Gene PubMed Count',NULL,869,NULL,NULL,NULL,56,NULL,NULL,NULL),(18597,'NCBI Gene PubMed Count',NULL,870,NULL,NULL,NULL,14,NULL,NULL,NULL),(18598,'NCBI Gene PubMed Count',NULL,871,NULL,NULL,NULL,15,NULL,NULL,NULL),(18599,'NCBI Gene PubMed Count',NULL,872,NULL,NULL,NULL,16,NULL,NULL,NULL),(18600,'NCBI Gene PubMed Count',NULL,873,NULL,NULL,NULL,8,NULL,NULL,NULL),(18601,'NCBI Gene PubMed Count',NULL,874,NULL,NULL,NULL,10,NULL,NULL,NULL),(18602,'NCBI Gene PubMed Count',NULL,875,NULL,NULL,NULL,2,NULL,NULL,NULL),(18603,'NCBI Gene PubMed Count',NULL,876,NULL,NULL,NULL,1,NULL,NULL,NULL),(18604,'NCBI Gene Summary',NULL,877,NULL,'This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. This gene produces multiple isoforms by using alternative translational start codons and by alternative splicing. Related pseudogenes have been identified on chromosomes 7 and 14. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(18605,'NCBI Gene PubMed Count',NULL,877,NULL,NULL,NULL,153,NULL,NULL,NULL),(18606,'NCBI Gene Summary',NULL,878,NULL,'This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(18607,'NCBI Gene PubMed Count',NULL,878,NULL,NULL,NULL,37,NULL,NULL,NULL),(18608,'NCBI Gene Summary',NULL,879,NULL,'The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18609,'NCBI Gene PubMed Count',NULL,879,NULL,NULL,NULL,11,NULL,NULL,NULL),(18610,'NCBI Gene PubMed Count',NULL,880,NULL,NULL,NULL,17,NULL,NULL,NULL),(18611,'NCBI Gene PubMed Count',NULL,881,NULL,NULL,NULL,31,NULL,NULL,NULL),(18612,'NCBI Gene Summary',NULL,882,NULL,'The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(18613,'NCBI Gene PubMed Count',NULL,882,NULL,NULL,NULL,26,NULL,NULL,NULL),(18614,'NCBI Gene Summary',NULL,883,NULL,'This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(18615,'NCBI Gene PubMed Count',NULL,883,NULL,NULL,NULL,11,NULL,NULL,NULL),(18616,'NCBI Gene Summary',NULL,884,NULL,'The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very low affinity to DNA due to its negative regulatory domain at the amino terminus. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(18617,'NCBI Gene PubMed Count',NULL,884,NULL,NULL,NULL,33,NULL,NULL,NULL),(18618,'NCBI Gene Summary',NULL,885,NULL,'The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18619,'NCBI Gene PubMed Count',NULL,885,NULL,NULL,NULL,21,NULL,NULL,NULL),(18620,'NCBI Gene Summary',NULL,886,NULL,'This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene is thought to be involved in the differentiation of T helper (Th) cells of the Th1 lineage, and the related mouse gene has been shown to be critical for the development of mature B and T lymphocytes. Read-through transcription exists between this gene and the downstream GIMAP5 (GTPase, IMAP family member 5) gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(18621,'NCBI Gene PubMed Count',NULL,886,NULL,NULL,NULL,11,NULL,NULL,NULL),(18622,'NCBI Gene Summary',NULL,887,NULL,'This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18623,'NCBI Gene PubMed Count',NULL,887,NULL,NULL,NULL,12,NULL,NULL,NULL),(18624,'NCBI Gene Summary',NULL,888,NULL,'This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18625,'NCBI Gene PubMed Count',NULL,888,NULL,NULL,NULL,19,NULL,NULL,NULL),(18626,'NCBI Gene Summary',NULL,889,NULL,'This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene encodes an antiapoptotic protein that functions in T-cell survival. Polymorphisms in this gene are associated with systemic lupus erythematosus. Read-through transcription exists between this gene and the neighboring upstream GIMAP1 (GTPase, IMAP family member 1) gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(18627,'NCBI Gene PubMed Count',NULL,889,NULL,NULL,NULL,23,NULL,NULL,NULL),(18628,'NCBI Gene Summary',NULL,890,NULL,'This gene encodes a member of the GTPases of immunity-associated proteins (GIMAP) family. GIMAP proteins contain GTP-binding and coiled-coil motifs, and may play roles in the regulation of cell survival. Decreased expression of this gene may play a role in non-small cell lung cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is found in a cluster with seven additional GIMAP genes on the long arm of chromosome 7. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(18629,'NCBI Gene PubMed Count',NULL,890,NULL,NULL,NULL,13,NULL,NULL,NULL),(18630,'NCBI Gene Summary',NULL,891,NULL,'This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18631,'NCBI Gene PubMed Count',NULL,891,NULL,NULL,NULL,9,NULL,NULL,NULL),(18632,'NCBI Gene Summary',NULL,892,NULL,'This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18633,'NCBI Gene PubMed Count',NULL,892,NULL,NULL,NULL,13,NULL,NULL,NULL),(18634,'NCBI Gene PubMed Count',NULL,893,NULL,NULL,NULL,2,NULL,NULL,NULL),(18635,'NCBI Gene PubMed Count',NULL,894,NULL,NULL,NULL,6,NULL,NULL,NULL),(18636,'NCBI Gene PubMed Count',NULL,895,NULL,NULL,NULL,5,NULL,NULL,NULL),(18637,'NCBI Gene Summary',NULL,896,NULL,'GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(18638,'NCBI Gene PubMed Count',NULL,896,NULL,NULL,NULL,67,NULL,NULL,NULL),(18639,'NCBI Gene PubMed Count',NULL,897,NULL,NULL,NULL,13,NULL,NULL,NULL),(18640,'NCBI Gene Summary',NULL,898,NULL,'The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(18641,'NCBI Gene PubMed Count',NULL,898,NULL,NULL,NULL,16,NULL,NULL,NULL),(18642,'NCBI Gene Summary',NULL,899,NULL,'This gene encodes a G-protein coupled receptor for gastric inhibitory polypeptide (GIP), which was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release in the presence of elevated glucose. Mice lacking this gene exhibit higher blood glucose levels with impaired initial insulin response after oral glucose load. Defect in this gene thus may contribute to the pathogenesis of diabetes. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(18643,'NCBI Gene PubMed Count',NULL,899,NULL,NULL,NULL,69,NULL,NULL,NULL),(18644,'NCBI Gene Summary',NULL,900,NULL,'This gene encodes an incretin hormone and belongs to the glucagon superfamily. The encoded protein is important in maintaining glucose homeostasis as it is a potent stimulator of insulin secretion from pancreatic beta-cells following food ingestion and nutrient absorption. This gene stimulates insulin secretion via its G protein-coupled receptor activation of adenylyl cyclase and other signal transduction pathways. It is a relatively poor inhibitor of gastric acid secretion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18645,'NCBI Gene PubMed Count',NULL,900,NULL,NULL,NULL,81,NULL,NULL,NULL),(18646,'NCBI Gene PubMed Count',NULL,901,NULL,NULL,NULL,74,NULL,NULL,NULL),(18647,'NCBI Gene Summary',NULL,902,NULL,'This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(18648,'NCBI Gene PubMed Count',NULL,902,NULL,NULL,NULL,38,NULL,NULL,NULL),(18649,'NCBI Gene Summary',NULL,903,NULL,'This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(18650,'NCBI Gene PubMed Count',NULL,903,NULL,NULL,NULL,8,NULL,NULL,NULL),(18651,'NCBI Gene Summary',NULL,904,NULL,'The protein encoded by this gene is found to be down-regulated in human gastric cancer tissue as compared to normal gastric mucosa. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18652,'NCBI Gene PubMed Count',NULL,904,NULL,NULL,NULL,42,NULL,NULL,NULL),(18653,'NCBI Gene Summary',NULL,905,NULL,'The secretory protein encoded by this gene is produced in gastric surface mucous cells, where it can bind trefoil factor family peptide 1 or gastrokine-1. This gene may be a tumor suppressor gene, as its expression is markedly decreased in gastric cancer tissues. The encoded protein interacts with gastrokine-1 and regulates homeostasis of the gastric mucosa. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(18654,'NCBI Gene PubMed Count',NULL,905,NULL,NULL,NULL,20,NULL,NULL,NULL),(18655,'NCBI Gene PubMed Count',NULL,906,NULL,NULL,NULL,5,NULL,NULL,NULL),(18656,'NCBI Gene PubMed Count',NULL,907,NULL,NULL,NULL,4,NULL,NULL,NULL),(18657,'NCBI Gene PubMed Count',NULL,908,NULL,NULL,NULL,1,NULL,NULL,NULL),(18658,'NCBI Gene Summary',NULL,909,NULL,'This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5\' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(18659,'NCBI Gene PubMed Count',NULL,909,NULL,NULL,NULL,173,NULL,NULL,NULL),(18660,'NCBI Gene Summary',NULL,910,NULL,'This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(18661,'NCBI Gene PubMed Count',NULL,910,NULL,NULL,NULL,47,NULL,NULL,NULL),(18662,'NCBI Gene Summary',NULL,911,NULL,'This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(18663,'NCBI Gene PubMed Count',NULL,911,NULL,NULL,NULL,15,NULL,NULL,NULL),(18664,'NCBI Gene Summary',NULL,912,NULL,'This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]',NULL,NULL,NULL,NULL,NULL),(18665,'NCBI Gene PubMed Count',NULL,912,NULL,NULL,NULL,77,NULL,NULL,NULL),(18666,'NCBI Gene Summary',NULL,913,NULL,'The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(18667,'NCBI Gene PubMed Count',NULL,913,NULL,NULL,NULL,31,NULL,NULL,NULL),(18668,'NCBI Gene Summary',NULL,914,NULL,'Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18669,'NCBI Gene PubMed Count',NULL,914,NULL,NULL,NULL,8,NULL,NULL,NULL),(18670,'NCBI Gene PubMed Count',NULL,915,NULL,NULL,NULL,36,NULL,NULL,NULL),(18671,'NCBI Gene Summary',NULL,916,NULL,'This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(18672,'NCBI Gene PubMed Count',NULL,916,NULL,NULL,NULL,41,NULL,NULL,NULL),(18673,'NCBI Gene PubMed Count',NULL,917,NULL,NULL,NULL,3,NULL,NULL,NULL),(18674,'NCBI Gene Summary',NULL,918,NULL,'This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain cancer types. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(18675,'NCBI Gene PubMed Count',NULL,918,NULL,NULL,NULL,30,NULL,NULL,NULL),(18676,'NCBI Gene Summary',NULL,919,NULL,'This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes to the peri-Golgi region and the cell periphery. The protein is thought to be involved in clathrin-mediated endocytosis. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18677,'NCBI Gene PubMed Count',NULL,919,NULL,NULL,NULL,18,NULL,NULL,NULL),(18678,'NCBI Gene Summary',NULL,920,NULL,'The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(18679,'NCBI Gene PubMed Count',NULL,920,NULL,NULL,NULL,163,NULL,NULL,NULL),(18680,'NCBI Gene Summary',NULL,921,NULL,'This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(18681,'NCBI Gene PubMed Count',NULL,921,NULL,NULL,NULL,62,NULL,NULL,NULL),(18682,'NCBI Gene PubMed Count',NULL,922,NULL,NULL,NULL,9,NULL,NULL,NULL),(18683,'NCBI Gene Summary',NULL,923,NULL,'This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18684,'NCBI Gene PubMed Count',NULL,923,NULL,NULL,NULL,440,NULL,NULL,NULL),(18685,'NCBI Gene Summary',NULL,924,NULL,'This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne\'s syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(18686,'NCBI Gene PubMed Count',NULL,924,NULL,NULL,NULL,139,NULL,NULL,NULL),(18687,'NCBI Gene Summary',NULL,925,NULL,'This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(18688,'NCBI Gene PubMed Count',NULL,925,NULL,NULL,NULL,138,NULL,NULL,NULL),(18689,'NCBI Gene Summary',NULL,926,NULL,'The protein encoded by this gene is a single-stranded DNA (ssDNA)-specific exonuclease that can slide along the DNA before cutting it. However, human replication protein A binds ssDNA and restricts sliding of the encoded protein, providing a 5\'-directionality to the enzyme. This protein localizes to nuclear repair loci after DNA damage. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(18690,'NCBI Gene PubMed Count',NULL,926,NULL,NULL,NULL,9,NULL,NULL,NULL),(18691,'NCBI Gene Summary',NULL,927,NULL,'The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18692,'NCBI Gene PubMed Count',NULL,927,NULL,NULL,NULL,48,NULL,NULL,NULL),(18693,'NCBI Gene PubMed Count',NULL,928,NULL,NULL,NULL,47,NULL,NULL,NULL),(18694,'NCBI Gene Summary',NULL,929,NULL,'This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(18695,'NCBI Gene PubMed Count',NULL,929,NULL,NULL,NULL,42,NULL,NULL,NULL),(18696,'NCBI Gene Summary',NULL,930,NULL,'This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(18697,'NCBI Gene PubMed Count',NULL,930,NULL,NULL,NULL,55,NULL,NULL,NULL),(18698,'NCBI Gene PubMed Count',NULL,931,NULL,NULL,NULL,14,NULL,NULL,NULL),(18699,'NCBI Gene Summary',NULL,932,NULL,'The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18700,'NCBI Gene PubMed Count',NULL,932,NULL,NULL,NULL,437,NULL,NULL,NULL),(18701,'NCBI Gene PubMed Count',NULL,933,NULL,NULL,NULL,13,NULL,NULL,NULL),(18702,'NCBI Gene PubMed Count',NULL,934,NULL,NULL,NULL,3,NULL,NULL,NULL),(18703,'NCBI Gene PubMed Count',NULL,935,NULL,NULL,NULL,15,NULL,NULL,NULL),(18704,'NCBI Gene PubMed Count',NULL,936,NULL,NULL,NULL,10,NULL,NULL,NULL),(18705,'NCBI Gene PubMed Count',NULL,937,NULL,NULL,NULL,12,NULL,NULL,NULL),(18706,'NCBI Gene Summary',NULL,938,NULL,'Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18707,'NCBI Gene PubMed Count',NULL,938,NULL,NULL,NULL,36,NULL,NULL,NULL),(18708,'NCBI Gene PubMed Count',NULL,939,NULL,NULL,NULL,4,NULL,NULL,NULL),(18709,'NCBI Gene PubMed Count',NULL,940,NULL,NULL,NULL,10,NULL,NULL,NULL),(18710,'NCBI Gene Summary',NULL,941,NULL,'This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(18711,'NCBI Gene PubMed Count',NULL,941,NULL,NULL,NULL,140,NULL,NULL,NULL),(18712,'NCBI Gene PubMed Count',NULL,942,NULL,NULL,NULL,2,NULL,NULL,NULL),(18713,'NCBI Gene Summary',NULL,943,NULL,'Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18714,'NCBI Gene PubMed Count',NULL,943,NULL,NULL,NULL,20,NULL,NULL,NULL),(18715,'NCBI Gene Summary',NULL,944,NULL,' The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily.  These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues.  They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation.  Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli.  This gene product inactivates ERK1, is expressed in a variety of tissues with the highest levels in pancreas and brain, and is localized in the nucleus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18716,'NCBI Gene PubMed Count',NULL,944,NULL,NULL,NULL,33,NULL,NULL,NULL),(18717,'NCBI Gene Summary',NULL,945,NULL,'The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(18718,'NCBI Gene PubMed Count',NULL,945,NULL,NULL,NULL,64,NULL,NULL,NULL),(18719,'NCBI Gene Summary',NULL,946,NULL,'Dual specificity protein phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the MAP kinase superfamily, which is associated with cellular proliferation and differentiation. Different members of this family of dual specificity phosphatases show distinct substrate specificities for MAP kinases, different tissue distribution and subcellular localization, and different modes of expression induction by extracellular stimuli. This gene product binds to and inactivates p38 and SAPK/JNK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(18720,'NCBI Gene PubMed Count',NULL,946,NULL,NULL,NULL,42,NULL,NULL,NULL),(18721,'NCBI Gene PubMed Count',NULL,947,NULL,NULL,NULL,16,NULL,NULL,NULL),(18722,'NCBI Gene PubMed Count',NULL,948,NULL,NULL,NULL,8,NULL,NULL,NULL),(18723,'NCBI Gene PubMed Count',NULL,949,NULL,NULL,NULL,2,NULL,NULL,NULL),(18724,'NCBI Gene PubMed Count',NULL,950,NULL,NULL,NULL,1,NULL,NULL,NULL),(18725,'NCBI Gene Summary',NULL,951,NULL,'This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18726,'NCBI Gene PubMed Count',NULL,951,NULL,NULL,NULL,9,NULL,NULL,NULL),(18727,'NCBI Gene PubMed Count',NULL,952,NULL,NULL,NULL,4,NULL,NULL,NULL),(18728,'NCBI Gene PubMed Count',NULL,953,NULL,NULL,NULL,3,NULL,NULL,NULL),(18729,'NCBI Gene PubMed Count',NULL,954,NULL,NULL,NULL,2,NULL,NULL,NULL),(18730,'NCBI Gene PubMed Count',NULL,955,NULL,NULL,NULL,5,NULL,NULL,NULL),(18731,'NCBI Gene PubMed Count',NULL,956,NULL,NULL,NULL,2,NULL,NULL,NULL),(18732,'NCBI Gene PubMed Count',NULL,957,NULL,NULL,NULL,0,NULL,NULL,NULL),(18733,'NCBI Gene PubMed Count',NULL,958,NULL,NULL,NULL,4,NULL,NULL,NULL),(18734,'NCBI Gene PubMed Count',NULL,959,NULL,NULL,NULL,3,NULL,NULL,NULL),(18735,'NCBI Gene PubMed Count',NULL,960,NULL,NULL,NULL,1,NULL,NULL,NULL),(18736,'NCBI Gene PubMed Count',NULL,961,NULL,NULL,NULL,3,NULL,NULL,NULL),(18737,'NCBI Gene Summary',NULL,962,NULL,'This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18738,'NCBI Gene PubMed Count',NULL,962,NULL,NULL,NULL,66,NULL,NULL,NULL),(18739,'NCBI Gene PubMed Count',NULL,963,NULL,NULL,NULL,5,NULL,NULL,NULL),(18740,'NCBI Gene Summary',NULL,964,NULL,'This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18741,'NCBI Gene PubMed Count',NULL,964,NULL,NULL,NULL,46,NULL,NULL,NULL),(18742,'NCBI Gene Summary',NULL,965,NULL,'This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(18743,'NCBI Gene PubMed Count',NULL,965,NULL,NULL,NULL,46,NULL,NULL,NULL),(18744,'NCBI Gene Summary',NULL,966,NULL,'The protein encoded by this gene aids in the proteolytic degradation of crosslinked fibrin by breaking down isodipeptide L-gamma-glutamyl-L-epsilon-lysine, a byproduct of fibrin degradation. The reaction catalyzed by the encoded gamma-glutamylaminecyclotransferase produces 5-oxo-L-proline and a free alkylamine. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(18745,'NCBI Gene PubMed Count',NULL,966,NULL,NULL,NULL,8,NULL,NULL,NULL),(18746,'NCBI Gene Summary',NULL,967,NULL,'The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(18747,'NCBI Gene PubMed Count',NULL,967,NULL,NULL,NULL,29,NULL,NULL,NULL),(18748,'NCBI Gene Summary',NULL,968,NULL,'This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18749,'NCBI Gene PubMed Count',NULL,968,NULL,NULL,NULL,8,NULL,NULL,NULL),(18750,'NCBI Gene PubMed Count',NULL,969,NULL,NULL,NULL,3,NULL,NULL,NULL),(18751,'NCBI Gene Summary',NULL,970,NULL,'This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18752,'NCBI Gene PubMed Count',NULL,970,NULL,NULL,NULL,66,NULL,NULL,NULL),(18753,'NCBI Gene Summary',NULL,971,NULL,'This gene is the ortholog of the mouse gametogenetin-binding protein 1 gene. In human, the open reading frame is disrupted by a nonsense mutation after 8-aa; consequently, this gene is currently considered to be a unitary pseudogene in human even though it is functional in other mammals. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(18754,'NCBI Gene PubMed Count',NULL,971,NULL,NULL,NULL,4,NULL,NULL,NULL),(18755,'NCBI Gene PubMed Count',NULL,972,NULL,NULL,NULL,11,NULL,NULL,NULL),(18756,'NCBI Gene PubMed Count',NULL,973,NULL,NULL,NULL,8,NULL,NULL,NULL),(18757,'NCBI Gene PubMed Count',NULL,974,NULL,NULL,NULL,21,NULL,NULL,NULL),(18758,'NCBI Gene Summary',NULL,975,NULL,'The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(18759,'NCBI Gene PubMed Count',NULL,975,NULL,NULL,NULL,402,NULL,NULL,NULL),(18760,'NCBI Gene PubMed Count',NULL,976,NULL,NULL,NULL,90,NULL,NULL,NULL),(18761,'NCBI Gene PubMed Count',NULL,977,NULL,NULL,NULL,8,NULL,NULL,NULL),(18762,'NCBI Gene PubMed Count',NULL,978,NULL,NULL,NULL,4,NULL,NULL,NULL),(18763,'NCBI Gene Summary',NULL,979,NULL,'The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5\' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(18764,'NCBI Gene PubMed Count',NULL,979,NULL,NULL,NULL,152,NULL,NULL,NULL),(18765,'NCBI Gene Summary',NULL,980,NULL,'The protein encoded by this gene is a member of the epidermal growth factor family. Members of this family are ligands for the epidermal growth factor receptor and play a role in cell survival, proliferation and migration. This protein has been reported to have high mitogenic activity but low affinity for its receptor. Expression of this transcript and protein have been reported in cancer specimens of the breast, bladder, and prostate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(18766,'NCBI Gene PubMed Count',NULL,980,NULL,NULL,NULL,17,NULL,NULL,NULL),(18767,'NCBI Gene Summary',NULL,981,NULL,'Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18768,'NCBI Gene PubMed Count',NULL,981,NULL,NULL,NULL,10,NULL,NULL,NULL),(18769,'NCBI Gene PubMed Count',NULL,982,NULL,NULL,NULL,6,NULL,NULL,NULL),(18770,'NCBI Gene PubMed Count',NULL,983,NULL,NULL,NULL,5,NULL,NULL,NULL),(18771,'NCBI Gene Summary',NULL,984,NULL,'This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(18772,'NCBI Gene PubMed Count',NULL,984,NULL,NULL,NULL,224,NULL,NULL,NULL),(18773,'NCBI Gene Summary',NULL,985,NULL,'This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(18774,'NCBI Gene PubMed Count',NULL,985,NULL,NULL,NULL,377,NULL,NULL,NULL),(18775,'NCBI Gene PubMed Count',NULL,986,NULL,NULL,NULL,14,NULL,NULL,NULL),(18776,'NCBI Gene Summary',NULL,987,NULL,'The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18777,'NCBI Gene PubMed Count',NULL,987,NULL,NULL,NULL,80,NULL,NULL,NULL),(18778,'NCBI Gene PubMed Count',NULL,988,NULL,NULL,NULL,0,NULL,NULL,NULL),(18779,'NCBI Gene Summary',NULL,989,NULL,'This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18780,'NCBI Gene PubMed Count',NULL,989,NULL,NULL,NULL,2678,NULL,NULL,NULL),(18781,'NCBI Gene Summary',NULL,990,NULL,'This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(18782,'NCBI Gene PubMed Count',NULL,990,NULL,NULL,NULL,59,NULL,NULL,NULL),(18783,'NCBI Gene Summary',NULL,991,NULL,'This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 6, 7, and X. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(18784,'NCBI Gene PubMed Count',NULL,991,NULL,NULL,NULL,53,NULL,NULL,NULL),(18785,'NCBI Gene Summary',NULL,992,NULL,'Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18786,'NCBI Gene PubMed Count',NULL,992,NULL,NULL,NULL,23,NULL,NULL,NULL),(18787,'NCBI Gene Summary',NULL,993,NULL,'This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(18788,'NCBI Gene PubMed Count',NULL,993,NULL,NULL,NULL,23,NULL,NULL,NULL),(18789,'NCBI Gene Summary',NULL,994,NULL,'Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18790,'NCBI Gene PubMed Count',NULL,994,NULL,NULL,NULL,17,NULL,NULL,NULL),(18791,'NCBI Gene Summary',NULL,995,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18792,'NCBI Gene PubMed Count',NULL,995,NULL,NULL,NULL,14,NULL,NULL,NULL),(18793,'NCBI Gene Summary',NULL,996,NULL,'Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(18794,'NCBI Gene PubMed Count',NULL,996,NULL,NULL,NULL,38,NULL,NULL,NULL),(18795,'NCBI Gene Summary',NULL,997,NULL,'This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18796,'NCBI Gene PubMed Count',NULL,997,NULL,NULL,NULL,36,NULL,NULL,NULL),(18797,'NCBI Gene Summary',NULL,998,NULL,'This gene encodes a transcription factor that contains a cyclin D-binding domain, three central Myb-like repeats, and two flanking acidic transactivation domains at the N- and C-termini. The encoded protein is induced by the oncogenic Ras signaling pathway and functions as a tumor suppressor by activating the transcription of ARF and thus the ARF-p53 pathway to arrest cell growth or induce apoptosis. It also activates the transcription of aminopeptidase N and may play a role in hematopoietic cell differentiation. The transcriptional activity of this protein is regulated by binding of D-cyclins. This gene is hemizygously deleted in approximately 40% of human non-small-cell lung cancer and is a potential prognostic and gene-therapy target for non-small-cell lung cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(18798,'NCBI Gene PubMed Count',NULL,998,NULL,NULL,NULL,29,NULL,NULL,NULL),(18799,'NCBI Gene PubMed Count',NULL,999,NULL,NULL,NULL,9,NULL,NULL,NULL),(18800,'NCBI Gene Summary',NULL,1000,NULL,'The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(18801,'NCBI Gene PubMed Count',NULL,1000,NULL,NULL,NULL,9,NULL,NULL,NULL),(18802,'NCBI Gene Summary',NULL,1001,NULL,'The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(18803,'NCBI Gene PubMed Count',NULL,1001,NULL,NULL,NULL,90,NULL,NULL,NULL),(18804,'NCBI Gene Summary',NULL,1002,NULL,'This gene encodes a mitogen-activated protein kinase phosphatase that is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. The encoded protein specifically regulates the c-Jun amino-terminal kinase (JNK) and extracellular signal-regulated kinase (ERK) pathways.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(18805,'NCBI Gene PubMed Count',NULL,1002,NULL,NULL,NULL,28,NULL,NULL,NULL),(18806,'NCBI Gene Summary',NULL,1003,NULL,'The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18807,'NCBI Gene PubMed Count',NULL,1003,NULL,NULL,NULL,17,NULL,NULL,NULL),(18808,'NCBI Gene Summary',NULL,1004,NULL,'This gene encodes a member of the dual specificity phosphatase family, specifically the low molecular weight dual specificity phosphatase family. The encoded protein localizes to both the cytoplasm and the nucleus and functions to remove phosphate groups from phosphotyrosine and phosphothreonine residues.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(18809,'NCBI Gene PubMed Count',NULL,1004,NULL,NULL,NULL,6,NULL,NULL,NULL),(18810,'NCBI Gene Summary',NULL,1005,NULL,'This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glycosylase. This repair process, resulting in the removal and reincorporation of dUTP, is self-defeating and leads to DNA fragmentation and cell death. Alternative splicing of this gene leads to different isoforms that localize to either the mitochondrion or nucleus. A related pseudogene is located on chromosome 19. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18811,'NCBI Gene PubMed Count',NULL,1005,NULL,NULL,NULL,41,NULL,NULL,NULL),(18812,'NCBI Gene Summary',NULL,1006,NULL,'The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX1, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(18813,'NCBI Gene PubMed Count',NULL,1006,NULL,NULL,NULL,4,NULL,NULL,NULL),(18814,'NCBI Gene Summary',NULL,1007,NULL,'This gene represents naturally occurring readthrough transcription between adjacent genes eukaryotic translation elongation factor 1 alpha lysine methyltransferase 4 (GeneID: 110599564) and endothelin converting enzyme 2 (GeneID:9718). The readthrough transcript representing this gene encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(18815,'NCBI Gene PubMed Count',NULL,1007,NULL,NULL,NULL,4,NULL,NULL,NULL),(18816,'NCBI Gene PubMed Count',NULL,1008,NULL,NULL,NULL,6,NULL,NULL,NULL),(18817,'NCBI Gene Summary',NULL,1009,NULL,'This gene encodes a putative tumor suppressor and has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The encoded protein may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, 7, and 8. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(18818,'NCBI Gene PubMed Count',NULL,1009,NULL,NULL,NULL,24,NULL,NULL,NULL),(18819,'NCBI Gene Summary',NULL,1010,NULL,'This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(18820,'NCBI Gene PubMed Count',NULL,1010,NULL,NULL,NULL,63,NULL,NULL,NULL),(18821,'NCBI Gene Summary',NULL,1011,NULL,'This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previously referred to as ligatin, but is now known to localize to the cytoplasm and localize and function with translation factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(18822,'NCBI Gene PubMed Count',NULL,1011,NULL,NULL,NULL,13,NULL,NULL,NULL),(18823,'NCBI Gene Summary',NULL,1012,NULL,'This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(18824,'NCBI Gene PubMed Count',NULL,1012,NULL,NULL,NULL,54,NULL,NULL,NULL),(18825,'NCBI Gene PubMed Count',NULL,1013,NULL,NULL,NULL,22,NULL,NULL,NULL),(18826,'NCBI Gene PubMed Count',NULL,1014,NULL,NULL,NULL,41,NULL,NULL,NULL),(18827,'NCBI Gene Summary',NULL,1015,NULL,'The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(18828,'NCBI Gene PubMed Count',NULL,1015,NULL,NULL,NULL,61,NULL,NULL,NULL),(18829,'NCBI Gene Summary',NULL,1016,NULL,'A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18830,'NCBI Gene PubMed Count',NULL,1016,NULL,NULL,NULL,9,NULL,NULL,NULL),(18831,'NCBI Gene Summary',NULL,1017,NULL,'ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(18832,'NCBI Gene PubMed Count',NULL,1017,NULL,NULL,NULL,28,NULL,NULL,NULL),(18833,'NCBI Gene Summary',NULL,1018,NULL,'This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(18834,'NCBI Gene PubMed Count',NULL,1018,NULL,NULL,NULL,23,NULL,NULL,NULL),(18835,'NCBI Gene PubMed Count',NULL,1019,NULL,NULL,NULL,5,NULL,NULL,NULL),(18836,'NCBI Gene Summary',NULL,1020,NULL,'The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila \'doublesex\' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(18837,'NCBI Gene PubMed Count',NULL,1020,NULL,NULL,NULL,9,NULL,NULL,NULL),(18838,'NCBI Gene Summary',NULL,1021,NULL,'The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18839,'NCBI Gene PubMed Count',NULL,1021,NULL,NULL,NULL,15,NULL,NULL,NULL),(18840,'NCBI Gene Summary',NULL,1022,NULL,'This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(18841,'NCBI Gene PubMed Count',NULL,1022,NULL,NULL,NULL,9,NULL,NULL,NULL),(18842,'NCBI Gene Summary',NULL,1023,NULL,'This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18843,'NCBI Gene PubMed Count',NULL,1023,NULL,NULL,NULL,87,NULL,NULL,NULL),(18844,'NCBI Gene Summary',NULL,1024,NULL,'This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5\' exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like protein complex subunit. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(18845,'NCBI Gene PubMed Count',NULL,1024,NULL,NULL,NULL,21,NULL,NULL,NULL),(18846,'NCBI Gene PubMed Count',NULL,1025,NULL,NULL,NULL,41,NULL,NULL,NULL),(18847,'NCBI Gene Summary',NULL,1026,NULL,'Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18848,'NCBI Gene PubMed Count',NULL,1026,NULL,NULL,NULL,263,NULL,NULL,NULL),(18849,'NCBI Gene Summary',NULL,1027,NULL,'The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(18850,'NCBI Gene PubMed Count',NULL,1027,NULL,NULL,NULL,195,NULL,NULL,NULL),(18851,'NCBI Gene Summary',NULL,1029,NULL,'The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(18852,'NCBI Gene PubMed Count',NULL,1029,NULL,NULL,NULL,16,NULL,NULL,NULL),(18853,'NCBI Gene Summary',NULL,1030,NULL,'The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(18854,'NCBI Gene PubMed Count',NULL,1030,NULL,NULL,NULL,9,NULL,NULL,NULL),(18855,'NCBI Gene Summary',NULL,1031,NULL,'This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18856,'NCBI Gene PubMed Count',NULL,1031,NULL,NULL,NULL,130,NULL,NULL,NULL),(18857,'NCBI Gene PubMed Count',NULL,1032,NULL,NULL,NULL,4,NULL,NULL,NULL),(18858,'NCBI Gene Summary',NULL,1033,NULL,'This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(18859,'NCBI Gene PubMed Count',NULL,1033,NULL,NULL,NULL,71,NULL,NULL,NULL),(18860,'NCBI Gene PubMed Count',NULL,1034,NULL,NULL,NULL,52,NULL,NULL,NULL),(18861,'NCBI Gene Summary',NULL,1035,NULL,'Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18862,'NCBI Gene PubMed Count',NULL,1035,NULL,NULL,NULL,23,NULL,NULL,NULL),(18863,'NCBI Gene Summary',NULL,1036,NULL,'This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(18864,'NCBI Gene PubMed Count',NULL,1036,NULL,NULL,NULL,34,NULL,NULL,NULL),(18865,'NCBI Gene PubMed Count',NULL,1037,NULL,NULL,NULL,52,NULL,NULL,NULL),(18866,'NCBI Gene PubMed Count',NULL,1038,NULL,NULL,NULL,3,NULL,NULL,NULL),(18867,'NCBI Gene Summary',NULL,1039,NULL,'This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18868,'NCBI Gene PubMed Count',NULL,1039,NULL,NULL,NULL,52,NULL,NULL,NULL),(18869,'NCBI Gene Summary',NULL,1040,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role in the development of the nervous and other organ systems, and may regulate aging. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(18870,'NCBI Gene PubMed Count',NULL,1040,NULL,NULL,NULL,37,NULL,NULL,NULL),(18871,'NCBI Gene PubMed Count',NULL,1041,NULL,NULL,NULL,11,NULL,NULL,NULL),(18872,'NCBI Gene Summary',NULL,1042,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(18873,'NCBI Gene PubMed Count',NULL,1042,NULL,NULL,NULL,78,NULL,NULL,NULL),(18874,'NCBI Gene PubMed Count',NULL,1043,NULL,NULL,NULL,1,NULL,NULL,NULL),(18875,'NCBI Gene PubMed Count',NULL,1044,NULL,NULL,NULL,9,NULL,NULL,NULL),(18876,'NCBI Gene PubMed Count',NULL,1045,NULL,NULL,NULL,5,NULL,NULL,NULL),(18877,'NCBI Gene PubMed Count',NULL,1046,NULL,NULL,NULL,1,NULL,NULL,NULL),(18878,'NCBI Gene PubMed Count',NULL,1047,NULL,NULL,NULL,6,NULL,NULL,NULL),(18879,'NCBI Gene PubMed Count',NULL,1048,NULL,NULL,NULL,9,NULL,NULL,NULL),(18880,'NCBI Gene Summary',NULL,1049,NULL,'GGT2 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(18881,'NCBI Gene PubMed Count',NULL,1049,NULL,NULL,NULL,25,NULL,NULL,NULL),(18882,'NCBI Gene Summary',NULL,1050,NULL,'This gene is a member of the gamma-glutamyl transpeptidase gene family, and some reports indicate that it is capable of cleaving the gamma-glutamyl moiety of glutathione. The protein encoded by this gene is synthesized as a single, catalytically-inactive polypeptide, that is processed post-transcriptionally to form a heavy and light subunit, with the catalytic activity contained within the small subunit. The encoded enzyme is able to convert leukotriene C4 to leukotriene D4, but appears to have distinct substrate specificity compared to gamma-glutamyl transpeptidase. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(18883,'NCBI Gene PubMed Count',NULL,1050,NULL,NULL,NULL,20,NULL,NULL,NULL),(18884,'NCBI Gene Summary',NULL,1051,NULL,'GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(18885,'NCBI Gene PubMed Count',NULL,1051,NULL,NULL,NULL,9,NULL,NULL,NULL),(18886,'NCBI Gene Summary',NULL,1052,NULL,'This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18887,'NCBI Gene PubMed Count',NULL,1052,NULL,NULL,NULL,14,NULL,NULL,NULL),(18888,'NCBI Gene Summary',NULL,1053,NULL,'This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18889,'NCBI Gene PubMed Count',NULL,1053,NULL,NULL,NULL,38,NULL,NULL,NULL),(18890,'NCBI Gene Summary',NULL,1054,NULL,'This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(18891,'NCBI Gene PubMed Count',NULL,1054,NULL,NULL,NULL,35,NULL,NULL,NULL),(18892,'NCBI Gene PubMed Count',NULL,1055,NULL,NULL,NULL,18,NULL,NULL,NULL),(18893,'NCBI Gene PubMed Count',NULL,1056,NULL,NULL,NULL,24,NULL,NULL,NULL),(18894,'NCBI Gene PubMed Count',NULL,1057,NULL,NULL,NULL,11,NULL,NULL,NULL),(18895,'NCBI Gene Summary',NULL,1058,NULL,'This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18896,'NCBI Gene PubMed Count',NULL,1058,NULL,NULL,NULL,11,NULL,NULL,NULL),(18897,'NCBI Gene PubMed Count',NULL,1059,NULL,NULL,NULL,9,NULL,NULL,NULL),(18898,'NCBI Gene Summary',NULL,1060,NULL,'This gene encodes a cytoplasmic protein that catalyzes the conversion of uridine residues to dihydrouridine in the D-loop of tRNA. The resulting modified bases confer enhanced regional flexibility to tRNA. The encoded protein may increase the rate of translation by inhibiting an interferon-induced protein kinase. This gene has been implicated in pulmonary carcinogenesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(18899,'NCBI Gene PubMed Count',NULL,1060,NULL,NULL,NULL,13,NULL,NULL,NULL),(18900,'NCBI Gene Summary',NULL,1061,NULL,'Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP7 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see MIM 601795), JNK (see MIM 601158), and p38 (see MIM 600289) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see MIM 116947)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(18901,'NCBI Gene PubMed Count',NULL,1061,NULL,NULL,NULL,18,NULL,NULL,NULL),(18902,'NCBI Gene Summary',NULL,1062,NULL,'The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18903,'NCBI Gene PubMed Count',NULL,1062,NULL,NULL,NULL,44,NULL,NULL,NULL),(18904,'NCBI Gene Summary',NULL,1063,NULL,'The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(18905,'NCBI Gene PubMed Count',NULL,1063,NULL,NULL,NULL,54,NULL,NULL,NULL),(18906,'NCBI Gene PubMed Count',NULL,1064,NULL,NULL,NULL,29,NULL,NULL,NULL),(18907,'NCBI Gene Summary',NULL,1065,NULL,'The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18908,'NCBI Gene PubMed Count',NULL,1065,NULL,NULL,NULL,22,NULL,NULL,NULL),(18909,'NCBI Gene Summary',NULL,1066,NULL,'This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18910,'NCBI Gene PubMed Count',NULL,1066,NULL,NULL,NULL,12,NULL,NULL,NULL),(18911,'NCBI Gene Summary',NULL,1067,NULL,'Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18912,'NCBI Gene PubMed Count',NULL,1067,NULL,NULL,NULL,41,NULL,NULL,NULL),(18913,'NCBI Gene Summary',NULL,1068,NULL,'This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(18914,'NCBI Gene PubMed Count',NULL,1068,NULL,NULL,NULL,147,NULL,NULL,NULL),(18915,'NCBI Gene Summary',NULL,1069,NULL,'This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(18916,'NCBI Gene PubMed Count',NULL,1069,NULL,NULL,NULL,430,NULL,NULL,NULL),(18917,'NCBI Gene Summary',NULL,1070,NULL,'The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18918,'NCBI Gene PubMed Count',NULL,1070,NULL,NULL,NULL,8,NULL,NULL,NULL),(18919,'NCBI Gene Summary',NULL,1071,NULL,'This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(18920,'NCBI Gene PubMed Count',NULL,1071,NULL,NULL,NULL,39,NULL,NULL,NULL),(18921,'NCBI Gene PubMed Count',NULL,1072,NULL,NULL,NULL,12,NULL,NULL,NULL),(18922,'NCBI Gene PubMed Count',NULL,1073,NULL,NULL,NULL,38,NULL,NULL,NULL),(18923,'NCBI Gene PubMed Count',NULL,1074,NULL,NULL,NULL,2,NULL,NULL,NULL),(18924,'NCBI Gene Summary',NULL,1075,NULL,'The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(18925,'NCBI Gene PubMed Count',NULL,1075,NULL,NULL,NULL,10,NULL,NULL,NULL),(18926,'NCBI Gene Summary',NULL,1076,NULL,'This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(18927,'NCBI Gene PubMed Count',NULL,1076,NULL,NULL,NULL,10,NULL,NULL,NULL),(18928,'NCBI Gene Summary',NULL,1077,NULL,'This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(18929,'NCBI Gene PubMed Count',NULL,1077,NULL,NULL,NULL,70,NULL,NULL,NULL),(18930,'NCBI Gene Summary',NULL,1078,NULL,'The protein encoded by this gene is a member of the ELAVL family of RNA-binding proteins that contain several RNA recognition motifs, and selectively bind AU-rich elements (AREs) found in the 3\' untranslated regions of mRNAs. AREs signal degradation of mRNAs as a means to regulate gene expression, thus by binding AREs, the ELAVL family of proteins play a role in stabilizing ARE-containing mRNAs. This gene has been implicated in a variety of biological processes and has been linked to a number of diseases, including cancer. It is highly expressed in many cancers, and could be potentially useful in cancer diagnosis, prognosis, and therapy. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(18931,'NCBI Gene PubMed Count',NULL,1078,NULL,NULL,NULL,388,NULL,NULL,NULL),(18932,'NCBI Gene Summary',NULL,1079,NULL,'Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(18933,'NCBI Gene PubMed Count',NULL,1079,NULL,NULL,NULL,263,NULL,NULL,NULL),(18934,'NCBI Gene Summary',NULL,1080,NULL,'This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18935,'NCBI Gene PubMed Count',NULL,1080,NULL,NULL,NULL,52,NULL,NULL,NULL),(18936,'NCBI Gene Summary',NULL,1081,NULL,'This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role in salvaging nucleotides from lysosomes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and these isoforms may differ in divalent cation dependence and substrate specificity. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(18937,'NCBI Gene PubMed Count',NULL,1081,NULL,NULL,NULL,13,NULL,NULL,NULL),(18938,'NCBI Gene Summary',NULL,1082,NULL,'This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(18939,'NCBI Gene PubMed Count',NULL,1082,NULL,NULL,NULL,32,NULL,NULL,NULL),(18940,'NCBI Gene PubMed Count',NULL,1083,NULL,NULL,NULL,13,NULL,NULL,NULL),(18941,'NCBI Gene Summary',NULL,1084,NULL,'HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18942,'NCBI Gene PubMed Count',NULL,1084,NULL,NULL,NULL,73,NULL,NULL,NULL),(18943,'NCBI Gene Summary',NULL,1085,NULL,'The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(18944,'NCBI Gene PubMed Count',NULL,1085,NULL,NULL,NULL,11,NULL,NULL,NULL),(18945,'NCBI Gene Summary',NULL,1086,NULL,'This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18946,'NCBI Gene PubMed Count',NULL,1086,NULL,NULL,NULL,73,NULL,NULL,NULL),(18947,'NCBI Gene Summary',NULL,1087,NULL,'This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18948,'NCBI Gene PubMed Count',NULL,1087,NULL,NULL,NULL,39,NULL,NULL,NULL),(18949,'NCBI Gene Summary',NULL,1088,NULL,'This gene encodes a member of the N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on mucin-type glycoproteins.[provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(18950,'NCBI Gene PubMed Count',NULL,1088,NULL,NULL,NULL,18,NULL,NULL,NULL),(18951,'NCBI Gene PubMed Count',NULL,1089,NULL,NULL,NULL,2,NULL,NULL,NULL),(18952,'NCBI Gene PubMed Count',NULL,1090,NULL,NULL,NULL,20,NULL,NULL,NULL),(18953,'NCBI Gene Summary',NULL,1091,NULL,'DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(18954,'NCBI Gene PubMed Count',NULL,1091,NULL,NULL,NULL,8,NULL,NULL,NULL),(18955,'NCBI Gene Summary',NULL,1092,NULL,'The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(18956,'NCBI Gene PubMed Count',NULL,1092,NULL,NULL,NULL,14,NULL,NULL,NULL),(18957,'NCBI Gene Summary',NULL,1093,NULL,'The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18958,'NCBI Gene PubMed Count',NULL,1093,NULL,NULL,NULL,21,NULL,NULL,NULL),(18959,'NCBI Gene Summary',NULL,1094,NULL,'This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(18960,'NCBI Gene PubMed Count',NULL,1094,NULL,NULL,NULL,12,NULL,NULL,NULL),(18961,'NCBI Gene Summary',NULL,1095,NULL,'This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(18962,'NCBI Gene PubMed Count',NULL,1095,NULL,NULL,NULL,10,NULL,NULL,NULL),(18963,'NCBI Gene PubMed Count',NULL,1096,NULL,NULL,NULL,15,NULL,NULL,NULL),(18964,'NCBI Gene Summary',NULL,1097,NULL,'Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(18965,'NCBI Gene PubMed Count',NULL,1097,NULL,NULL,NULL,8,NULL,NULL,NULL),(18966,'NCBI Gene Summary',NULL,1098,NULL,'Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(18967,'NCBI Gene PubMed Count',NULL,1098,NULL,NULL,NULL,9,NULL,NULL,NULL),(18968,'NCBI Gene Summary',NULL,1099,NULL,'This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(18969,'NCBI Gene PubMed Count',NULL,1099,NULL,NULL,NULL,10,NULL,NULL,NULL),(18970,'NCBI Gene Summary',NULL,1100,NULL,'Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18971,'NCBI Gene PubMed Count',NULL,1100,NULL,NULL,NULL,99,NULL,NULL,NULL),(18972,'NCBI Gene Summary',NULL,1101,NULL,'This gene encodes a member of a subclass of dynein light chains. The encoded protein homodimerizes and forms the light chain component of the cytoplasmic dynein motor protein complex. This protein may be important for binding dynein to specific cargos including the spindle checkpoint protein BUB3. This protein may also function independently of dynein as a transcriptional modulator. Pseudogenes of this gene are found on chromosomes 2 and 20.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(18973,'NCBI Gene PubMed Count',NULL,1101,NULL,NULL,NULL,17,NULL,NULL,NULL),(18974,'NCBI Gene Summary',NULL,1102,NULL,'This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(18975,'NCBI Gene PubMed Count',NULL,1102,NULL,NULL,NULL,27,NULL,NULL,NULL),(18976,'NCBI Gene Summary',NULL,1103,NULL,'Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(18977,'NCBI Gene PubMed Count',NULL,1103,NULL,NULL,NULL,166,NULL,NULL,NULL),(18978,'NCBI Gene Summary',NULL,1104,NULL,'This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(18979,'NCBI Gene PubMed Count',NULL,1104,NULL,NULL,NULL,45,NULL,NULL,NULL),(18980,'NCBI Gene Summary',NULL,1105,NULL,'This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(18981,'NCBI Gene PubMed Count',NULL,1105,NULL,NULL,NULL,49,NULL,NULL,NULL),(18982,'NCBI Gene PubMed Count',NULL,1106,NULL,NULL,NULL,10,NULL,NULL,NULL),(18983,'NCBI Gene Summary',NULL,1107,NULL,' DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development.  The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues.  DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro.  Two isoforms of DYRK2 have been isolated.  The predominant isoform, isoform 1, lacks a 5\' terminal insert. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18984,'NCBI Gene PubMed Count',NULL,1107,NULL,NULL,NULL,34,NULL,NULL,NULL),(18985,'NCBI Gene Summary',NULL,1108,NULL,'This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18986,'NCBI Gene PubMed Count',NULL,1108,NULL,NULL,NULL,15,NULL,NULL,NULL),(18987,'NCBI Gene Summary',NULL,1109,NULL,'This gene encodes an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(18988,'NCBI Gene PubMed Count',NULL,1109,NULL,NULL,NULL,11,NULL,NULL,NULL),(18989,'NCBI Gene Summary',NULL,1110,NULL,'This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. [provided by RefSeq, Dec 2018]',NULL,NULL,NULL,NULL,NULL),(18990,'NCBI Gene PubMed Count',NULL,1110,NULL,NULL,NULL,7,NULL,NULL,NULL),(18991,'NCBI Gene PubMed Count',NULL,1111,NULL,NULL,NULL,7,NULL,NULL,NULL),(18992,'NCBI Gene Summary',NULL,1112,NULL,'This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18993,'NCBI Gene PubMed Count',NULL,1112,NULL,NULL,NULL,27,NULL,NULL,NULL),(18994,'NCBI Gene Summary',NULL,1113,NULL,'The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(18995,'NCBI Gene PubMed Count',NULL,1113,NULL,NULL,NULL,31,NULL,NULL,NULL),(18996,'NCBI Gene Summary',NULL,1114,NULL,'The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(18997,'NCBI Gene PubMed Count',NULL,1114,NULL,NULL,NULL,321,NULL,NULL,NULL),(18998,'NCBI Gene Summary',NULL,1115,NULL,'The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the  tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(18999,'NCBI Gene PubMed Count',NULL,1115,NULL,NULL,NULL,94,NULL,NULL,NULL),(19000,'NCBI Gene Summary',NULL,1116,NULL,'The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionarily conserved domains that are present in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein is differentially phosphorylated and is expressed in a wide variety of human tissues. It has higher identity to E2F4 than to other family members. Both this protein and E2F4 interact with tumor suppressor proteins p130 and p107, but not with pRB. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19001,'NCBI Gene PubMed Count',NULL,1116,NULL,NULL,NULL,43,NULL,NULL,NULL),(19002,'NCBI Gene Summary',NULL,1117,NULL,'The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(19003,'NCBI Gene PubMed Count',NULL,1117,NULL,NULL,NULL,151,NULL,NULL,NULL),(19004,'NCBI Gene Summary',NULL,1118,NULL,'This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(19005,'NCBI Gene PubMed Count',NULL,1118,NULL,NULL,NULL,68,NULL,NULL,NULL),(19006,'NCBI Gene Summary',NULL,1119,NULL,'This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(19007,'NCBI Gene PubMed Count',NULL,1119,NULL,NULL,NULL,25,NULL,NULL,NULL),(19008,'NCBI Gene Summary',NULL,1120,NULL,'Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(19009,'NCBI Gene PubMed Count',NULL,1120,NULL,NULL,NULL,18,NULL,NULL,NULL),(19010,'NCBI Gene Summary',NULL,1121,NULL,'Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(19011,'NCBI Gene PubMed Count',NULL,1121,NULL,NULL,NULL,40,NULL,NULL,NULL),(19012,'NCBI Gene PubMed Count',NULL,1122,NULL,NULL,NULL,10,NULL,NULL,NULL),(19013,'NCBI Gene PubMed Count',NULL,1123,NULL,NULL,NULL,17,NULL,NULL,NULL),(19014,'NCBI Gene PubMed Count',NULL,1124,NULL,NULL,NULL,27,NULL,NULL,NULL),(19015,'NCBI Gene PubMed Count',NULL,1125,NULL,NULL,NULL,7,NULL,NULL,NULL),(19016,'NCBI Gene Summary',NULL,1126,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(19017,'NCBI Gene PubMed Count',NULL,1126,NULL,NULL,NULL,142,NULL,NULL,NULL),(19018,'NCBI Gene Summary',NULL,1127,NULL,'This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19019,'NCBI Gene PubMed Count',NULL,1127,NULL,NULL,NULL,68,NULL,NULL,NULL),(19020,'NCBI Gene Summary',NULL,1128,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(19021,'NCBI Gene PubMed Count',NULL,1128,NULL,NULL,NULL,36,NULL,NULL,NULL),(19022,'NCBI Gene PubMed Count',NULL,1129,NULL,NULL,NULL,5,NULL,NULL,NULL),(19023,'NCBI Gene PubMed Count',NULL,1130,NULL,NULL,NULL,7,NULL,NULL,NULL),(19024,'NCBI Gene Summary',NULL,1131,NULL,'Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19025,'NCBI Gene PubMed Count',NULL,1131,NULL,NULL,NULL,23,NULL,NULL,NULL),(19026,'NCBI Gene Summary',NULL,1132,NULL,'This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(19027,'NCBI Gene PubMed Count',NULL,1132,NULL,NULL,NULL,90,NULL,NULL,NULL),(19028,'NCBI Gene Summary',NULL,1133,NULL,'This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19029,'NCBI Gene PubMed Count',NULL,1133,NULL,NULL,NULL,9,NULL,NULL,NULL),(19030,'NCBI Gene Summary',NULL,1134,NULL,'This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(19031,'NCBI Gene PubMed Count',NULL,1134,NULL,NULL,NULL,33,NULL,NULL,NULL),(19032,'NCBI Gene Summary',NULL,1135,NULL,'This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19033,'NCBI Gene PubMed Count',NULL,1135,NULL,NULL,NULL,172,NULL,NULL,NULL),(19034,'NCBI Gene PubMed Count',NULL,1136,NULL,NULL,NULL,2,NULL,NULL,NULL),(19035,'NCBI Gene Summary',NULL,1137,NULL,'Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(19036,'NCBI Gene PubMed Count',NULL,1137,NULL,NULL,NULL,152,NULL,NULL,NULL),(19037,'NCBI Gene Summary',NULL,1138,NULL,'The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(19038,'NCBI Gene PubMed Count',NULL,1138,NULL,NULL,NULL,136,NULL,NULL,NULL),(19039,'NCBI Gene Summary',NULL,1139,NULL,'This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(19040,'NCBI Gene PubMed Count',NULL,1139,NULL,NULL,NULL,78,NULL,NULL,NULL),(19041,'NCBI Gene PubMed Count',NULL,1140,NULL,NULL,NULL,1,NULL,NULL,NULL),(19042,'NCBI Gene PubMed Count',NULL,1141,NULL,NULL,NULL,17,NULL,NULL,NULL),(19043,'NCBI Gene PubMed Count',NULL,1142,NULL,NULL,NULL,14,NULL,NULL,NULL),(19044,'NCBI Gene Summary',NULL,1143,NULL,'This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(19045,'NCBI Gene PubMed Count',NULL,1143,NULL,NULL,NULL,129,NULL,NULL,NULL),(19046,'NCBI Gene Summary',NULL,1144,NULL,'This gene encodes a member of a family of transcription factors that play a crucial role in the control of the cell cycle. The protein encoded by this gene lacks the transactivation and tumor suppressor protein association domains found in other family members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex with chromatin modifying factors. There are pseudogenes for this gene on chromosomes 22 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(19047,'NCBI Gene PubMed Count',NULL,1144,NULL,NULL,NULL,48,NULL,NULL,NULL),(19048,'NCBI Gene Summary',NULL,1145,NULL,'E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008]',NULL,NULL,NULL,NULL,NULL),(19049,'NCBI Gene PubMed Count',NULL,1145,NULL,NULL,NULL,32,NULL,NULL,NULL),(19050,'NCBI Gene Summary',NULL,1146,NULL,'The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain.  This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19051,'NCBI Gene PubMed Count',NULL,1146,NULL,NULL,NULL,642,NULL,NULL,NULL),(19052,'NCBI Gene PubMed Count',NULL,1147,NULL,NULL,NULL,38,NULL,NULL,NULL),(19053,'NCBI Gene PubMed Count',NULL,1148,NULL,NULL,NULL,67,NULL,NULL,NULL),(19054,'NCBI Gene Summary',NULL,1149,NULL,'This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(19055,'NCBI Gene PubMed Count',NULL,1149,NULL,NULL,NULL,98,NULL,NULL,NULL),(19056,'NCBI Gene PubMed Count',NULL,1150,NULL,NULL,NULL,12,NULL,NULL,NULL),(19057,'NCBI Gene Summary',NULL,1151,NULL,'This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(19058,'NCBI Gene PubMed Count',NULL,1151,NULL,NULL,NULL,17,NULL,NULL,NULL),(19059,'NCBI Gene Summary',NULL,1152,NULL,'This gene encodes a nuclear protein involved in transcriptional activation. The encoded protein may form a component of several different histone acetyltransferase complexes. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(19060,'NCBI Gene PubMed Count',NULL,1152,NULL,NULL,NULL,26,NULL,NULL,NULL),(19061,'NCBI Gene PubMed Count',NULL,1153,NULL,NULL,NULL,20,NULL,NULL,NULL),(19062,'NCBI Gene Summary',NULL,1154,NULL,'This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19063,'NCBI Gene PubMed Count',NULL,1154,NULL,NULL,NULL,71,NULL,NULL,NULL),(19064,'NCBI Gene Summary',NULL,1155,NULL,'This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(19065,'NCBI Gene PubMed Count',NULL,1155,NULL,NULL,NULL,41,NULL,NULL,NULL),(19066,'NCBI Gene PubMed Count',NULL,1156,NULL,NULL,NULL,6,NULL,NULL,NULL),(19067,'NCBI Gene PubMed Count',NULL,1157,NULL,NULL,NULL,7,NULL,NULL,NULL),(19068,'NCBI Gene Summary',NULL,1158,NULL,'The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19069,'NCBI Gene PubMed Count',NULL,1158,NULL,NULL,NULL,40,NULL,NULL,NULL),(19070,'NCBI Gene Summary',NULL,1159,NULL,'The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19071,'NCBI Gene PubMed Count',NULL,1159,NULL,NULL,NULL,18,NULL,NULL,NULL),(19072,'NCBI Gene Summary',NULL,1160,NULL,'This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(19073,'NCBI Gene PubMed Count',NULL,1160,NULL,NULL,NULL,11,NULL,NULL,NULL),(19074,'NCBI Gene Summary',NULL,1161,NULL,'This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(19075,'NCBI Gene PubMed Count',NULL,1161,NULL,NULL,NULL,26,NULL,NULL,NULL),(19076,'NCBI Gene PubMed Count',NULL,1162,NULL,NULL,NULL,7,NULL,NULL,NULL),(19077,'NCBI Gene Summary',NULL,1163,NULL,'This gene encodes a member of the DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(19078,'NCBI Gene PubMed Count',NULL,1163,NULL,NULL,NULL,18,NULL,NULL,NULL),(19079,'NCBI Gene PubMed Count',NULL,1164,NULL,NULL,NULL,14,NULL,NULL,NULL),(19080,'NCBI Gene PubMed Count',NULL,1165,NULL,NULL,NULL,9,NULL,NULL,NULL),(19081,'NCBI Gene Summary',NULL,1166,NULL,'The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19082,'NCBI Gene PubMed Count',NULL,1166,NULL,NULL,NULL,24,NULL,NULL,NULL),(19083,'NCBI Gene PubMed Count',NULL,1167,NULL,NULL,NULL,3,NULL,NULL,NULL),(19084,'NCBI Gene Summary',NULL,1168,NULL,'This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19085,'NCBI Gene PubMed Count',NULL,1168,NULL,NULL,NULL,15,NULL,NULL,NULL),(19086,'NCBI Gene PubMed Count',NULL,1169,NULL,NULL,NULL,7,NULL,NULL,NULL),(19087,'NCBI Gene Summary',NULL,1170,NULL,'The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(19088,'NCBI Gene PubMed Count',NULL,1170,NULL,NULL,NULL,25,NULL,NULL,NULL),(19089,'NCBI Gene Summary',NULL,1171,NULL,'The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19090,'NCBI Gene PubMed Count',NULL,1171,NULL,NULL,NULL,24,NULL,NULL,NULL),(19091,'NCBI Gene PubMed Count',NULL,1172,NULL,NULL,NULL,13,NULL,NULL,NULL),(19092,'NCBI Gene Summary',NULL,1173,NULL,'This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19093,'NCBI Gene PubMed Count',NULL,1173,NULL,NULL,NULL,63,NULL,NULL,NULL),(19094,'NCBI Gene Summary',NULL,1175,NULL,'This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(19095,'NCBI Gene PubMed Count',NULL,1175,NULL,NULL,NULL,85,NULL,NULL,NULL),(19096,'NCBI Gene Summary',NULL,1176,NULL,'This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19097,'NCBI Gene PubMed Count',NULL,1176,NULL,NULL,NULL,202,NULL,NULL,NULL),(19098,'NCBI Gene Summary',NULL,1177,NULL,'This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19099,'NCBI Gene PubMed Count',NULL,1177,NULL,NULL,NULL,48,NULL,NULL,NULL),(19100,'NCBI Gene PubMed Count',NULL,1178,NULL,NULL,NULL,4,NULL,NULL,NULL),(19101,'NCBI Gene PubMed Count',NULL,1179,NULL,NULL,NULL,22,NULL,NULL,NULL),(19102,'NCBI Gene Summary',NULL,1180,NULL,'This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]',NULL,NULL,NULL,NULL,NULL),(19103,'NCBI Gene PubMed Count',NULL,1180,NULL,NULL,NULL,25,NULL,NULL,NULL),(19104,'NCBI Gene PubMed Count',NULL,1181,NULL,NULL,NULL,14,NULL,NULL,NULL),(19105,'NCBI Gene Summary',NULL,1182,NULL,'This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19106,'NCBI Gene PubMed Count',NULL,1182,NULL,NULL,NULL,20,NULL,NULL,NULL),(19107,'NCBI Gene Summary',NULL,1183,NULL,'This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(19108,'NCBI Gene PubMed Count',NULL,1183,NULL,NULL,NULL,33,NULL,NULL,NULL),(19109,'NCBI Gene Summary',NULL,1184,NULL,'This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(19110,'NCBI Gene PubMed Count',NULL,1184,NULL,NULL,NULL,956,NULL,NULL,NULL),(19111,'NCBI Gene Summary',NULL,1185,NULL,'This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19112,'NCBI Gene PubMed Count',NULL,1185,NULL,NULL,NULL,41,NULL,NULL,NULL),(19113,'NCBI Gene Summary',NULL,1186,NULL,'This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3\' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19114,'NCBI Gene PubMed Count',NULL,1186,NULL,NULL,NULL,140,NULL,NULL,NULL),(19115,'NCBI Gene Summary',NULL,1187,NULL,'The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F3, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits overall 46% amino acid identity to E2F1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19116,'NCBI Gene PubMed Count',NULL,1187,NULL,NULL,NULL,76,NULL,NULL,NULL),(19117,'NCBI Gene PubMed Count',NULL,1188,NULL,NULL,NULL,10,NULL,NULL,NULL),(19118,'NCBI Gene Summary',NULL,1189,NULL,'The zinc finger protein encoded by this gene is one of several cellular transcription factors whose DNA-binding activities are regulated through the action of adenovirus E1A. A 50-kDa amino-terminal product is generated from the full-length protein through proteolytic cleavage. The protein is differentially regulated by E1A-induced phosphorylation. The full-length gene product represses transcription from the E4 promoter in the absence of E1A, while the 50-kDa form acts as a transcriptional activator in its presence. Alternative splicing results in multiple transcripts encoding different proteins. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(19119,'NCBI Gene PubMed Count',NULL,1189,NULL,NULL,NULL,23,NULL,NULL,NULL),(19120,'NCBI Gene PubMed Count',NULL,1190,NULL,NULL,NULL,3,NULL,NULL,NULL),(19121,'NCBI Gene Summary',NULL,1191,NULL,'The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(19122,'NCBI Gene PubMed Count',NULL,1191,NULL,NULL,NULL,10,NULL,NULL,NULL),(19123,'NCBI Gene Summary',NULL,1192,NULL,'This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19124,'NCBI Gene PubMed Count',NULL,1192,NULL,NULL,NULL,126,NULL,NULL,NULL),(19125,'NCBI Gene Summary',NULL,1193,NULL,'Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19126,'NCBI Gene PubMed Count',NULL,1193,NULL,NULL,NULL,49,NULL,NULL,NULL),(19127,'NCBI Gene Summary',NULL,1194,NULL,'Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(19128,'NCBI Gene PubMed Count',NULL,1194,NULL,NULL,NULL,103,NULL,NULL,NULL),(19129,'NCBI Gene Summary',NULL,1195,NULL,'The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX3, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(19130,'NCBI Gene PubMed Count',NULL,1195,NULL,NULL,NULL,1,NULL,NULL,NULL),(19131,'NCBI Gene PubMed Count',NULL,1196,NULL,NULL,NULL,7,NULL,NULL,NULL),(19132,'NCBI Gene Summary',NULL,1197,NULL,'This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(19133,'NCBI Gene PubMed Count',NULL,1197,NULL,NULL,NULL,36,NULL,NULL,NULL),(19134,'NCBI Gene PubMed Count',NULL,1198,NULL,NULL,NULL,26,NULL,NULL,NULL),(19135,'NCBI Gene PubMed Count',NULL,1199,NULL,NULL,NULL,5,NULL,NULL,NULL),(19136,'NCBI Gene PubMed Count',NULL,1200,NULL,NULL,NULL,6,NULL,NULL,NULL),(19137,'NCBI Gene Summary',NULL,1201,NULL,'The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(19138,'NCBI Gene PubMed Count',NULL,1201,NULL,NULL,NULL,113,NULL,NULL,NULL),(19139,'NCBI Gene PubMed Count',NULL,1202,NULL,NULL,NULL,25,NULL,NULL,NULL),(19140,'NCBI Gene Summary',NULL,1203,NULL,'This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(19141,'NCBI Gene PubMed Count',NULL,1203,NULL,NULL,NULL,17,NULL,NULL,NULL),(19142,'NCBI Gene Summary',NULL,1204,NULL,'The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein exhibits antimicrobial activity against pathogenic bacteria [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(19143,'NCBI Gene PubMed Count',NULL,1204,NULL,NULL,NULL,116,NULL,NULL,NULL),(19144,'NCBI Gene PubMed Count',NULL,1205,NULL,NULL,NULL,26,NULL,NULL,NULL),(19145,'NCBI Gene PubMed Count',NULL,1206,NULL,NULL,NULL,1,NULL,NULL,NULL),(19146,'NCBI Gene Summary',NULL,1207,NULL,'In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(19147,'NCBI Gene PubMed Count',NULL,1207,NULL,NULL,NULL,19,NULL,NULL,NULL),(19148,'NCBI Gene Summary',NULL,1208,NULL,'Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(19149,'NCBI Gene PubMed Count',NULL,1208,NULL,NULL,NULL,16,NULL,NULL,NULL),(19150,'NCBI Gene Summary',NULL,1209,NULL,'This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(19151,'NCBI Gene PubMed Count',NULL,1209,NULL,NULL,NULL,21,NULL,NULL,NULL),(19152,'NCBI Gene Summary',NULL,1210,NULL,'The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19153,'NCBI Gene PubMed Count',NULL,1210,NULL,NULL,NULL,35,NULL,NULL,NULL),(19154,'NCBI Gene Summary',NULL,1211,NULL,'The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(19155,'NCBI Gene PubMed Count',NULL,1211,NULL,NULL,NULL,72,NULL,NULL,NULL),(19156,'NCBI Gene PubMed Count',NULL,1212,NULL,NULL,NULL,11,NULL,NULL,NULL),(19157,'NCBI Gene Summary',NULL,1213,NULL,'This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(19158,'NCBI Gene PubMed Count',NULL,1213,NULL,NULL,NULL,9,NULL,NULL,NULL),(19159,'NCBI Gene Summary',NULL,1214,NULL,'This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(19160,'NCBI Gene PubMed Count',NULL,1214,NULL,NULL,NULL,62,NULL,NULL,NULL),(19161,'NCBI Gene Summary',NULL,1215,NULL,'The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(19162,'NCBI Gene PubMed Count',NULL,1215,NULL,NULL,NULL,10,NULL,NULL,NULL),(19163,'NCBI Gene PubMed Count',NULL,1216,NULL,NULL,NULL,11,NULL,NULL,NULL),(19164,'NCBI Gene PubMed Count',NULL,1217,NULL,NULL,NULL,3,NULL,NULL,NULL),(19165,'NCBI Gene PubMed Count',NULL,1218,NULL,NULL,NULL,3,NULL,NULL,NULL),(19166,'NCBI Gene Summary',NULL,1219,NULL,'This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19167,'NCBI Gene PubMed Count',NULL,1219,NULL,NULL,NULL,23,NULL,NULL,NULL),(19168,'NCBI Gene Summary',NULL,1220,NULL,'The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(19169,'NCBI Gene PubMed Count',NULL,1220,NULL,NULL,NULL,79,NULL,NULL,NULL),(19170,'NCBI Gene Summary',NULL,1221,NULL,'This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(19171,'NCBI Gene PubMed Count',NULL,1221,NULL,NULL,NULL,15,NULL,NULL,NULL),(19172,'NCBI Gene PubMed Count',NULL,1222,NULL,NULL,NULL,22,NULL,NULL,NULL),(19173,'NCBI Gene PubMed Count',NULL,1223,NULL,NULL,NULL,11,NULL,NULL,NULL),(19174,'NCBI Gene Summary',NULL,1224,NULL,'This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(19175,'NCBI Gene PubMed Count',NULL,1224,NULL,NULL,NULL,59,NULL,NULL,NULL),(19176,'NCBI Gene PubMed Count',NULL,1225,NULL,NULL,NULL,10,NULL,NULL,NULL),(19177,'NCBI Gene Summary',NULL,1226,NULL,'This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. DNAJ family members are characterized by a highly conserved amino acid stretch called the \'J-domain\' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(19178,'NCBI Gene PubMed Count',NULL,1226,NULL,NULL,NULL,87,NULL,NULL,NULL),(19179,'NCBI Gene Summary',NULL,1227,NULL,'CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(19180,'NCBI Gene PubMed Count',NULL,1227,NULL,NULL,NULL,68,NULL,NULL,NULL),(19181,'NCBI Gene Summary',NULL,1228,NULL,'The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19182,'NCBI Gene PubMed Count',NULL,1228,NULL,NULL,NULL,12,NULL,NULL,NULL),(19183,'NCBI Gene PubMed Count',NULL,1229,NULL,NULL,NULL,16,NULL,NULL,NULL),(19184,'NCBI Gene PubMed Count',NULL,1230,NULL,NULL,NULL,27,NULL,NULL,NULL),(19185,'NCBI Gene Summary',NULL,1231,NULL,'HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19186,'NCBI Gene PubMed Count',NULL,1231,NULL,NULL,NULL,44,NULL,NULL,NULL),(19187,'NCBI Gene Summary',NULL,1232,NULL,'There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(19188,'NCBI Gene PubMed Count',NULL,1232,NULL,NULL,NULL,17,NULL,NULL,NULL),(19189,'NCBI Gene Summary',NULL,1233,NULL,'The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. Mutations in this gene result in immunodeficiency 40 (IMD40), a combined form of immunodeficiency that affects T cell number and function, also with variable defects in B cell and NK cell function. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(19190,'NCBI Gene PubMed Count',NULL,1233,NULL,NULL,NULL,69,NULL,NULL,NULL),(19191,'NCBI Gene Summary',NULL,1234,NULL,'This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19192,'NCBI Gene PubMed Count',NULL,1234,NULL,NULL,NULL,33,NULL,NULL,NULL),(19193,'NCBI Gene Summary',NULL,1235,NULL,'This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(19194,'NCBI Gene PubMed Count',NULL,1235,NULL,NULL,NULL,11,NULL,NULL,NULL),(19195,'NCBI Gene Summary',NULL,1236,NULL,'This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(19196,'NCBI Gene PubMed Count',NULL,1236,NULL,NULL,NULL,19,NULL,NULL,NULL),(19197,'NCBI Gene Summary',NULL,1237,NULL,'This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(19198,'NCBI Gene PubMed Count',NULL,1237,NULL,NULL,NULL,64,NULL,NULL,NULL),(19199,'NCBI Gene PubMed Count',NULL,1238,NULL,NULL,NULL,22,NULL,NULL,NULL),(19200,'NCBI Gene Summary',NULL,1239,NULL,'This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(19201,'NCBI Gene PubMed Count',NULL,1239,NULL,NULL,NULL,13,NULL,NULL,NULL),(19202,'NCBI Gene Summary',NULL,1240,NULL,'The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(19203,'NCBI Gene PubMed Count',NULL,1240,NULL,NULL,NULL,77,NULL,NULL,NULL),(19204,'NCBI Gene Summary',NULL,1241,NULL,'The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19205,'NCBI Gene PubMed Count',NULL,1241,NULL,NULL,NULL,45,NULL,NULL,NULL),(19206,'NCBI Gene PubMed Count',NULL,1242,NULL,NULL,NULL,21,NULL,NULL,NULL),(19207,'NCBI Gene PubMed Count',NULL,1243,NULL,NULL,NULL,15,NULL,NULL,NULL),(19208,'NCBI Gene Summary',NULL,1244,NULL,'The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(19209,'NCBI Gene PubMed Count',NULL,1244,NULL,NULL,NULL,25,NULL,NULL,NULL),(19210,'NCBI Gene Summary',NULL,1245,NULL,'DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(19211,'NCBI Gene PubMed Count',NULL,1245,NULL,NULL,NULL,11,NULL,NULL,NULL),(19212,'NCBI Gene Summary',NULL,1246,NULL,'The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(19213,'NCBI Gene PubMed Count',NULL,1246,NULL,NULL,NULL,46,NULL,NULL,NULL),(19214,'NCBI Gene Summary',NULL,1247,NULL,'The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(19215,'NCBI Gene PubMed Count',NULL,1247,NULL,NULL,NULL,15,NULL,NULL,NULL),(19216,'NCBI Gene Summary',NULL,1248,NULL,'This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19217,'NCBI Gene PubMed Count',NULL,1248,NULL,NULL,NULL,13,NULL,NULL,NULL),(19218,'NCBI Gene PubMed Count',NULL,1249,NULL,NULL,NULL,8,NULL,NULL,NULL),(19219,'NCBI Gene PubMed Count',NULL,1250,NULL,NULL,NULL,20,NULL,NULL,NULL),(19220,'NCBI Gene Summary',NULL,1251,NULL,'D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19221,'NCBI Gene PubMed Count',NULL,1251,NULL,NULL,NULL,35,NULL,NULL,NULL),(19222,'NCBI Gene Summary',NULL,1252,NULL,'The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(19223,'NCBI Gene PubMed Count',NULL,1252,NULL,NULL,NULL,202,NULL,NULL,NULL),(19224,'NCBI Gene Summary',NULL,1253,NULL,'A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(19225,'NCBI Gene PubMed Count',NULL,1253,NULL,NULL,NULL,9,NULL,NULL,NULL),(19226,'NCBI Gene Summary',NULL,1254,NULL,'The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(19227,'NCBI Gene PubMed Count',NULL,1254,NULL,NULL,NULL,76,NULL,NULL,NULL),(19228,'NCBI Gene Summary',NULL,1255,NULL,'Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(19229,'NCBI Gene PubMed Count',NULL,1255,NULL,NULL,NULL,21,NULL,NULL,NULL),(19230,'NCBI Gene Summary',NULL,1256,NULL,'This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(19231,'NCBI Gene PubMed Count',NULL,1256,NULL,NULL,NULL,19,NULL,NULL,NULL),(19232,'NCBI Gene Summary',NULL,1257,NULL,'The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19233,'NCBI Gene PubMed Count',NULL,1257,NULL,NULL,NULL,80,NULL,NULL,NULL),(19234,'NCBI Gene Summary',NULL,1258,NULL,'The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(19235,'NCBI Gene PubMed Count',NULL,1258,NULL,NULL,NULL,29,NULL,NULL,NULL),(19236,'NCBI Gene PubMed Count',NULL,1259,NULL,NULL,NULL,0,NULL,NULL,NULL),(19237,'NCBI Gene Summary',NULL,1260,NULL,'HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19238,'NCBI Gene PubMed Count',NULL,1260,NULL,NULL,NULL,107,NULL,NULL,NULL),(19239,'NCBI Gene Summary',NULL,1261,NULL,'DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(19240,'NCBI Gene PubMed Count',NULL,1261,NULL,NULL,NULL,11,NULL,NULL,NULL),(19241,'NCBI Gene Summary',NULL,1262,NULL,'Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(19242,'NCBI Gene PubMed Count',NULL,1262,NULL,NULL,NULL,22,NULL,NULL,NULL),(19243,'NCBI Gene Summary',NULL,1263,NULL,'This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3\'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19244,'NCBI Gene PubMed Count',NULL,1263,NULL,NULL,NULL,43,NULL,NULL,NULL),(19245,'NCBI Gene Summary',NULL,1264,NULL,'This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19246,'NCBI Gene PubMed Count',NULL,1264,NULL,NULL,NULL,5,NULL,NULL,NULL),(19247,'NCBI Gene Summary',NULL,1265,NULL,'This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19248,'NCBI Gene PubMed Count',NULL,1265,NULL,NULL,NULL,7,NULL,NULL,NULL),(19249,'NCBI Gene Summary',NULL,1266,NULL,'This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(19250,'NCBI Gene PubMed Count',NULL,1266,NULL,NULL,NULL,24,NULL,NULL,NULL),(19251,'NCBI Gene Summary',NULL,1267,NULL,'The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(19252,'NCBI Gene PubMed Count',NULL,1267,NULL,NULL,NULL,15,NULL,NULL,NULL),(19253,'NCBI Gene Summary',NULL,1268,NULL,'DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(19254,'NCBI Gene PubMed Count',NULL,1268,NULL,NULL,NULL,14,NULL,NULL,NULL),(19255,'NCBI Gene Summary',NULL,1269,NULL,'This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(19256,'NCBI Gene PubMed Count',NULL,1269,NULL,NULL,NULL,399,NULL,NULL,NULL),(19257,'NCBI Gene Summary',NULL,1270,NULL,'This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19258,'NCBI Gene PubMed Count',NULL,1270,NULL,NULL,NULL,42,NULL,NULL,NULL),(19259,'NCBI Gene Summary',NULL,1271,NULL,'The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(19260,'NCBI Gene PubMed Count',NULL,1271,NULL,NULL,NULL,16,NULL,NULL,NULL),(19261,'NCBI Gene PubMed Count',NULL,1272,NULL,NULL,NULL,6,NULL,NULL,NULL),(19262,'NCBI Gene Summary',NULL,1273,NULL,'The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3\' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(19263,'NCBI Gene PubMed Count',NULL,1273,NULL,NULL,NULL,143,NULL,NULL,NULL),(19264,'NCBI Gene Summary',NULL,1274,NULL,'This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(19265,'NCBI Gene PubMed Count',NULL,1274,NULL,NULL,NULL,58,NULL,NULL,NULL),(19266,'NCBI Gene Summary',NULL,1275,NULL,'This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(19267,'NCBI Gene PubMed Count',NULL,1275,NULL,NULL,NULL,16,NULL,NULL,NULL),(19268,'NCBI Gene Summary',NULL,1276,NULL,'POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(19269,'NCBI Gene PubMed Count',NULL,1276,NULL,NULL,NULL,8,NULL,NULL,NULL),(19270,'NCBI Gene Summary',NULL,1277,NULL,'This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(19271,'NCBI Gene PubMed Count',NULL,1277,NULL,NULL,NULL,31,NULL,NULL,NULL),(19272,'NCBI Gene Summary',NULL,1278,NULL,'This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(19273,'NCBI Gene PubMed Count',NULL,1278,NULL,NULL,NULL,79,NULL,NULL,NULL),(19274,'NCBI Gene PubMed Count',NULL,1279,NULL,NULL,NULL,11,NULL,NULL,NULL),(19275,'NCBI Gene Summary',NULL,1280,NULL,'Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(19276,'NCBI Gene PubMed Count',NULL,1280,NULL,NULL,NULL,391,NULL,NULL,NULL),(19277,'NCBI Gene Summary',NULL,1281,NULL,'Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19278,'NCBI Gene PubMed Count',NULL,1281,NULL,NULL,NULL,27,NULL,NULL,NULL),(19279,'NCBI Gene Summary',NULL,1282,NULL,'The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19280,'NCBI Gene PubMed Count',NULL,1282,NULL,NULL,NULL,23,NULL,NULL,NULL),(19281,'NCBI Gene Summary',NULL,1283,NULL,'This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19282,'NCBI Gene PubMed Count',NULL,1283,NULL,NULL,NULL,138,NULL,NULL,NULL),(19283,'NCBI Gene Summary',NULL,1284,NULL,'This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(19284,'NCBI Gene PubMed Count',NULL,1284,NULL,NULL,NULL,7,NULL,NULL,NULL),(19285,'NCBI Gene Summary',NULL,1285,NULL,'The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19286,'NCBI Gene PubMed Count',NULL,1285,NULL,NULL,NULL,10,NULL,NULL,NULL),(19287,'NCBI Gene Summary',NULL,1286,NULL,'The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19288,'NCBI Gene PubMed Count',NULL,1286,NULL,NULL,NULL,23,NULL,NULL,NULL),(19289,'NCBI Gene PubMed Count',NULL,1287,NULL,NULL,NULL,2,NULL,NULL,NULL),(19290,'NCBI Gene Summary',NULL,1288,NULL,'Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP19 contains a variation of the consensus DUSP C-terminal catalytic domain, with the last serine residue replaced by alanine, and lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(19291,'NCBI Gene PubMed Count',NULL,1288,NULL,NULL,NULL,13,NULL,NULL,NULL),(19292,'NCBI Gene Summary',NULL,1289,NULL,'The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX5, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(19293,'NCBI Gene PubMed Count',NULL,1289,NULL,NULL,NULL,3,NULL,NULL,NULL),(19294,'NCBI Gene Summary',NULL,1290,NULL,'This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19295,'NCBI Gene PubMed Count',NULL,1290,NULL,NULL,NULL,189,NULL,NULL,NULL),(19296,'NCBI Gene Summary',NULL,1291,NULL,'This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19297,'NCBI Gene PubMed Count',NULL,1291,NULL,NULL,NULL,35,NULL,NULL,NULL),(19298,'NCBI Gene PubMed Count',NULL,1292,NULL,NULL,NULL,15,NULL,NULL,NULL),(19299,'NCBI Gene PubMed Count',NULL,1293,NULL,NULL,NULL,4,NULL,NULL,NULL),(19300,'NCBI Gene Summary',NULL,1294,NULL,'This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(19301,'NCBI Gene PubMed Count',NULL,1294,NULL,NULL,NULL,12,NULL,NULL,NULL),(19302,'NCBI Gene Summary',NULL,1295,NULL,'The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19303,'NCBI Gene PubMed Count',NULL,1295,NULL,NULL,NULL,37,NULL,NULL,NULL),(19304,'NCBI Gene Summary',NULL,1296,NULL,'Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(19305,'NCBI Gene PubMed Count',NULL,1296,NULL,NULL,NULL,91,NULL,NULL,NULL),(19306,'NCBI Gene Summary',NULL,1297,NULL,'Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(19307,'NCBI Gene PubMed Count',NULL,1297,NULL,NULL,NULL,14,NULL,NULL,NULL),(19308,'NCBI Gene Summary',NULL,1298,NULL,'This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(19309,'NCBI Gene PubMed Count',NULL,1298,NULL,NULL,NULL,29,NULL,NULL,NULL),(19310,'NCBI Gene Summary',NULL,1299,NULL,'This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(19311,'NCBI Gene PubMed Count',NULL,1299,NULL,NULL,NULL,21,NULL,NULL,NULL),(19312,'NCBI Gene Summary',NULL,1300,NULL,'Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(19313,'NCBI Gene PubMed Count',NULL,1300,NULL,NULL,NULL,6,NULL,NULL,NULL),(19314,'NCBI Gene PubMed Count',NULL,1301,NULL,NULL,NULL,25,NULL,NULL,NULL),(19315,'NCBI Gene Summary',NULL,1302,NULL,'This gene encodes a component of the motor complex, cytoplasmic dynein, which transports cellular cargo along microtubules in the cell. The encoded protein regulates the length of primary cilia which are sensory organelles found on the surface of cells. The protein encoded by this gene interacts with viral proteins, like the minor capsid protein L2 of human papillomavirus, and is required for dynein-mediated delivery of the viral nucleic acid to the host nucleus. This protein interacts with oncogenic nucleoporins to disrupt gene regulation and cause leukemic transformation. Pseudogenes of this gene are present on chromosomes 4 and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(19316,'NCBI Gene PubMed Count',NULL,1302,NULL,NULL,NULL,43,NULL,NULL,NULL),(19317,'NCBI Gene Summary',NULL,1303,NULL,'This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5\' UTR or in the 3\' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19318,'NCBI Gene PubMed Count',NULL,1303,NULL,NULL,NULL,143,NULL,NULL,NULL),(19319,'NCBI Gene Summary',NULL,1304,NULL,'This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(19320,'NCBI Gene PubMed Count',NULL,1304,NULL,NULL,NULL,72,NULL,NULL,NULL),(19321,'NCBI Gene Summary',NULL,1305,NULL,'This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. The encoded protein has been identified as the autoantigen of the autoimmune blistering disease pemphigus vulgaris. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(19322,'NCBI Gene PubMed Count',NULL,1305,NULL,NULL,NULL,102,NULL,NULL,NULL),(19323,'NCBI Gene PubMed Count',NULL,1306,NULL,NULL,NULL,4,NULL,NULL,NULL),(19324,'NCBI Gene PubMed Count',NULL,1307,NULL,NULL,NULL,9,NULL,NULL,NULL),(19325,'NCBI Gene PubMed Count',NULL,1308,NULL,NULL,NULL,6,NULL,NULL,NULL),(19326,'NCBI Gene Summary',NULL,1309,NULL,'GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19327,'NCBI Gene PubMed Count',NULL,1309,NULL,NULL,NULL,50,NULL,NULL,NULL),(19328,'NCBI Gene PubMed Count',NULL,1310,NULL,NULL,NULL,11,NULL,NULL,NULL),(19329,'NCBI Gene Summary',NULL,1311,NULL,'Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(19330,'NCBI Gene PubMed Count',NULL,1311,NULL,NULL,NULL,37,NULL,NULL,NULL),(19331,'NCBI Gene Summary',NULL,1312,NULL,'This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(19332,'NCBI Gene PubMed Count',NULL,1312,NULL,NULL,NULL,32,NULL,NULL,NULL),(19333,'NCBI Gene Summary',NULL,1313,NULL,'GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19334,'NCBI Gene PubMed Count',NULL,1313,NULL,NULL,NULL,47,NULL,NULL,NULL),(19335,'NCBI Gene Summary',NULL,1314,NULL,'Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19336,'NCBI Gene PubMed Count',NULL,1314,NULL,NULL,NULL,83,NULL,NULL,NULL),(19337,'NCBI Gene Summary',NULL,1315,NULL,'The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19338,'NCBI Gene PubMed Count',NULL,1315,NULL,NULL,NULL,52,NULL,NULL,NULL),(19339,'NCBI Gene Summary',NULL,1316,NULL,'This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(19340,'NCBI Gene PubMed Count',NULL,1316,NULL,NULL,NULL,107,NULL,NULL,NULL),(19341,'NCBI Gene Summary',NULL,1317,NULL,'This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(19342,'NCBI Gene PubMed Count',NULL,1317,NULL,NULL,NULL,7,NULL,NULL,NULL),(19343,'NCBI Gene Summary',NULL,1318,NULL,'This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(19344,'NCBI Gene PubMed Count',NULL,1318,NULL,NULL,NULL,6,NULL,NULL,NULL),(19345,'NCBI Gene PubMed Count',NULL,1319,NULL,NULL,NULL,3,NULL,NULL,NULL),(19346,'NCBI Gene Summary',NULL,1320,NULL,'The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(19347,'NCBI Gene PubMed Count',NULL,1320,NULL,NULL,NULL,21,NULL,NULL,NULL),(19348,'NCBI Gene PubMed Count',NULL,1321,NULL,NULL,NULL,7,NULL,NULL,NULL),(19349,'NCBI Gene Summary',NULL,1322,NULL,'The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19350,'NCBI Gene PubMed Count',NULL,1322,NULL,NULL,NULL,49,NULL,NULL,NULL),(19351,'NCBI Gene Summary',NULL,1323,NULL,'The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(19352,'NCBI Gene PubMed Count',NULL,1323,NULL,NULL,NULL,16,NULL,NULL,NULL),(19353,'NCBI Gene PubMed Count',NULL,1324,NULL,NULL,NULL,7,NULL,NULL,NULL),(19354,'NCBI Gene PubMed Count',NULL,1325,NULL,NULL,NULL,17,NULL,NULL,NULL),(19355,'NCBI Gene Summary',NULL,1326,NULL,'The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(19356,'NCBI Gene PubMed Count',NULL,1326,NULL,NULL,NULL,28,NULL,NULL,NULL),(19357,'NCBI Gene PubMed Count',NULL,1327,NULL,NULL,NULL,13,NULL,NULL,NULL),(19358,'NCBI Gene Summary',NULL,1328,NULL,'Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19359,'NCBI Gene PubMed Count',NULL,1328,NULL,NULL,NULL,2,NULL,NULL,NULL),(19360,'NCBI Gene Summary',NULL,1329,NULL,'This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. The function of its protein product is unknown, but its ubiquitous expression and conservation in both simple and complex eukaryotes suggests that this may be a housekeeping gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19361,'NCBI Gene PubMed Count',NULL,1329,NULL,NULL,NULL,17,NULL,NULL,NULL),(19362,'NCBI Gene Summary',NULL,1330,NULL,'This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19363,'NCBI Gene PubMed Count',NULL,1330,NULL,NULL,NULL,94,NULL,NULL,NULL),(19364,'NCBI Gene PubMed Count',NULL,1331,NULL,NULL,NULL,9,NULL,NULL,NULL),(19365,'NCBI Gene Summary',NULL,1332,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(19366,'NCBI Gene PubMed Count',NULL,1332,NULL,NULL,NULL,7,NULL,NULL,NULL),(19367,'NCBI Gene Summary',NULL,1333,NULL,'This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19368,'NCBI Gene PubMed Count',NULL,1333,NULL,NULL,NULL,35,NULL,NULL,NULL),(19369,'NCBI Gene Summary',NULL,1334,NULL,'The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2\'-5\' prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point of excised lariat intron RNA, converting them to linear molecules that are then degraded. This protein may also be involved in retroviral replication. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(19370,'NCBI Gene PubMed Count',NULL,1334,NULL,NULL,NULL,18,NULL,NULL,NULL),(19371,'NCBI Gene Summary',NULL,1335,NULL,'This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(19372,'NCBI Gene PubMed Count',NULL,1335,NULL,NULL,NULL,8,NULL,NULL,NULL),(19373,'NCBI Gene Summary',NULL,1336,NULL,'This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. Mouse studies show that the DCX gene, another family member, and this gene share function in the establishment of hippocampal organization and that their absence results in a severe epileptic phenotype and lethality, as described in human patients with lissencephaly. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(19374,'NCBI Gene PubMed Count',NULL,1336,NULL,NULL,NULL,14,NULL,NULL,NULL),(19375,'NCBI Gene Summary',NULL,1337,NULL,' Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs.  Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents.  Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives.  DCK is clinically important because of its relationship to drug resistance and sensitivity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19376,'NCBI Gene PubMed Count',NULL,1337,NULL,NULL,NULL,87,NULL,NULL,NULL),(19377,'NCBI Gene Summary',NULL,1338,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19378,'NCBI Gene PubMed Count',NULL,1338,NULL,NULL,NULL,53,NULL,NULL,NULL),(19379,'NCBI Gene PubMed Count',NULL,1339,NULL,NULL,NULL,10,NULL,NULL,NULL),(19380,'NCBI Gene PubMed Count',NULL,1340,NULL,NULL,NULL,12,NULL,NULL,NULL),(19381,'NCBI Gene Summary',NULL,1341,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein of unknown function. It shows high transcription levels in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19382,'NCBI Gene PubMed Count',NULL,1341,NULL,NULL,NULL,54,NULL,NULL,NULL),(19383,'NCBI Gene Summary',NULL,1342,NULL,'This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(19384,'NCBI Gene PubMed Count',NULL,1342,NULL,NULL,NULL,100,NULL,NULL,NULL),(19385,'NCBI Gene PubMed Count',NULL,1343,NULL,NULL,NULL,7,NULL,NULL,NULL),(19386,'NCBI Gene Summary',NULL,1344,NULL,'In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19387,'NCBI Gene PubMed Count',NULL,1344,NULL,NULL,NULL,42,NULL,NULL,NULL),(19388,'NCBI Gene Summary',NULL,1345,NULL,'The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19389,'NCBI Gene PubMed Count',NULL,1345,NULL,NULL,NULL,33,NULL,NULL,NULL),(19390,'NCBI Gene Summary',NULL,1346,NULL,'This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(19391,'NCBI Gene PubMed Count',NULL,1346,NULL,NULL,NULL,13,NULL,NULL,NULL),(19392,'NCBI Gene PubMed Count',NULL,1347,NULL,NULL,NULL,10,NULL,NULL,NULL),(19393,'NCBI Gene Summary',NULL,1348,NULL,'This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(19394,'NCBI Gene PubMed Count',NULL,1348,NULL,NULL,NULL,9,NULL,NULL,NULL),(19395,'NCBI Gene PubMed Count',NULL,1349,NULL,NULL,NULL,3,NULL,NULL,NULL),(19396,'NCBI Gene Summary',NULL,1350,NULL,'This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19397,'NCBI Gene PubMed Count',NULL,1350,NULL,NULL,NULL,33,NULL,NULL,NULL),(19398,'NCBI Gene Summary',NULL,1351,NULL,'This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19399,'NCBI Gene PubMed Count',NULL,1351,NULL,NULL,NULL,7,NULL,NULL,NULL),(19400,'NCBI Gene PubMed Count',NULL,1352,NULL,NULL,NULL,8,NULL,NULL,NULL),(19401,'NCBI Gene PubMed Count',NULL,1353,NULL,NULL,NULL,9,NULL,NULL,NULL),(19402,'NCBI Gene Summary',NULL,1354,NULL,'This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone.  It preferentially uses NADP as cofactor.  Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19403,'NCBI Gene PubMed Count',NULL,1354,NULL,NULL,NULL,53,NULL,NULL,NULL),(19404,'NCBI Gene Summary',NULL,1355,NULL,'The protein encoded by this gene is localized to the mitochondrion and acts as a homohexamer to recycle glutamate during neurotransmission. The encoded enzyme catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate. This gene is intronless.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(19405,'NCBI Gene PubMed Count',NULL,1355,NULL,NULL,NULL,43,NULL,NULL,NULL),(19406,'NCBI Gene Summary',NULL,1356,NULL,'Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(19407,'NCBI Gene PubMed Count',NULL,1356,NULL,NULL,NULL,8,NULL,NULL,NULL),(19408,'NCBI Gene Summary',NULL,1357,NULL,'This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(19409,'NCBI Gene PubMed Count',NULL,1357,NULL,NULL,NULL,30,NULL,NULL,NULL),(19410,'NCBI Gene Summary',NULL,1358,NULL,'This gene is one of two human homologs of a segment-polarity gene known as dispatched identified in Drosophila. The product of this gene may be required for normal Hedgehog (Hh) signaling during embryonic pattern formation. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(19411,'NCBI Gene PubMed Count',NULL,1358,NULL,NULL,NULL,8,NULL,NULL,NULL),(19412,'NCBI Gene PubMed Count',NULL,1359,NULL,NULL,NULL,11,NULL,NULL,NULL),(19413,'NCBI Gene Summary',NULL,1360,NULL,' DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family.  It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19414,'NCBI Gene PubMed Count',NULL,1360,NULL,NULL,NULL,96,NULL,NULL,NULL),(19415,'NCBI Gene PubMed Count',NULL,1361,NULL,NULL,NULL,7,NULL,NULL,NULL),(19416,'NCBI Gene Summary',NULL,1362,NULL,'This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19417,'NCBI Gene PubMed Count',NULL,1362,NULL,NULL,NULL,52,NULL,NULL,NULL),(19418,'NCBI Gene Summary',NULL,1363,NULL,'This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19419,'NCBI Gene PubMed Count',NULL,1363,NULL,NULL,NULL,24,NULL,NULL,NULL),(19420,'NCBI Gene Summary',NULL,1364,NULL,'The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(19421,'NCBI Gene PubMed Count',NULL,1364,NULL,NULL,NULL,11,NULL,NULL,NULL),(19422,'NCBI Gene Summary',NULL,1365,NULL,'The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(19423,'NCBI Gene PubMed Count',NULL,1365,NULL,NULL,NULL,26,NULL,NULL,NULL),(19424,'NCBI Gene PubMed Count',NULL,1366,NULL,NULL,NULL,22,NULL,NULL,NULL),(19425,'NCBI Gene PubMed Count',NULL,1367,NULL,NULL,NULL,9,NULL,NULL,NULL),(19426,'NCBI Gene Summary',NULL,1368,NULL,'DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(19427,'NCBI Gene PubMed Count',NULL,1368,NULL,NULL,NULL,18,NULL,NULL,NULL),(19428,'NCBI Gene Summary',NULL,1369,NULL,'Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(19429,'NCBI Gene PubMed Count',NULL,1369,NULL,NULL,NULL,35,NULL,NULL,NULL),(19430,'NCBI Gene Summary',NULL,1370,NULL,' The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily.  These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues.  They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation.  Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli.  This gene product inactivates ERK1 and ERK2, is predominantly expressed in hematopoietic tissues, and is localized in the nucleus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19431,'NCBI Gene PubMed Count',NULL,1370,NULL,NULL,NULL,31,NULL,NULL,NULL),(19432,'NCBI Gene Summary',NULL,1371,NULL,'This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(19433,'NCBI Gene PubMed Count',NULL,1371,NULL,NULL,NULL,16,NULL,NULL,NULL),(19434,'NCBI Gene PubMed Count',NULL,1372,NULL,NULL,NULL,7,NULL,NULL,NULL),(19435,'NCBI Gene Summary',NULL,1373,NULL,'Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP14 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(19436,'NCBI Gene PubMed Count',NULL,1373,NULL,NULL,NULL,18,NULL,NULL,NULL),(19437,'NCBI Gene Summary',NULL,1374,NULL,'The protein encoded by this gene has both protein-tyrosine phophatase activity and serine/threonine-specific phosphatase activity, and therefore is known as a dual specificity phosphatase. This protein may function in the differentiation of oligodendrocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(19438,'NCBI Gene PubMed Count',NULL,1374,NULL,NULL,NULL,15,NULL,NULL,NULL),(19439,'NCBI Gene Summary',NULL,1376,NULL,'Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP18 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(19440,'NCBI Gene PubMed Count',NULL,1376,NULL,NULL,NULL,12,NULL,NULL,NULL),(19441,'NCBI Gene PubMed Count',NULL,1377,NULL,NULL,NULL,3,NULL,NULL,NULL),(19442,'NCBI Gene Summary',NULL,1378,NULL,'The protein encoded by this gene is a phosphatase with dual specificity for tyrosine and threonine. The encoded protein can dephosphorylate MAP kinase MAPK1/ERK2, which results in its involvement in several cellular processes. This protein appears to play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. Finally, the encoded protein can make some solid tumors resistant to both chemotherapy and radiotherapy, making it a target for cancer therapy. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(19443,'NCBI Gene PubMed Count',NULL,1378,NULL,NULL,NULL,192,NULL,NULL,NULL),(19444,'NCBI Gene Summary',NULL,1379,NULL,'This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(19445,'NCBI Gene PubMed Count',NULL,1379,NULL,NULL,NULL,83,NULL,NULL,NULL),(19446,'NCBI Gene Summary',NULL,1380,NULL,'DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19447,'NCBI Gene PubMed Count',NULL,1380,NULL,NULL,NULL,94,NULL,NULL,NULL),(19448,'NCBI Gene PubMed Count',NULL,1381,NULL,NULL,NULL,9,NULL,NULL,NULL),(19449,'NCBI Gene PubMed Count',NULL,1382,NULL,NULL,NULL,15,NULL,NULL,NULL),(19450,'NCBI Gene PubMed Count',NULL,1383,NULL,NULL,NULL,91,NULL,NULL,NULL),(19451,'NCBI Gene PubMed Count',NULL,1384,NULL,NULL,NULL,67,NULL,NULL,NULL),(19452,'NCBI Gene PubMed Count',NULL,1385,NULL,NULL,NULL,0,NULL,NULL,NULL),(19453,'NCBI Gene Summary',NULL,1386,NULL,'This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5\' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with \'idiopathic\' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19454,'NCBI Gene PubMed Count',NULL,1386,NULL,NULL,NULL,218,NULL,NULL,NULL),(19455,'NCBI Gene Summary',NULL,1387,NULL,'The protein encoded by this gene is a guanine nucleotide exchange factor that activates the oncogenes HRAS and RAP1A. Defects in this gene have been associated with systemic lupus erythematosus and several cancers. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(19456,'NCBI Gene PubMed Count',NULL,1387,NULL,NULL,NULL,35,NULL,NULL,NULL),(19457,'NCBI Gene Summary',NULL,1388,NULL,'This gene encodes an endo/exonuclease with 5\'-3\' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5\' end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(19458,'NCBI Gene PubMed Count',NULL,1388,NULL,NULL,NULL,15,NULL,NULL,NULL),(19459,'NCBI Gene Summary',NULL,1389,NULL,'This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(19460,'NCBI Gene PubMed Count',NULL,1389,NULL,NULL,NULL,30,NULL,NULL,NULL),(19461,'NCBI Gene Summary',NULL,1390,NULL,'This gene encodes a 3\'-5\' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(19462,'NCBI Gene PubMed Count',NULL,1390,NULL,NULL,NULL,24,NULL,NULL,NULL),(19463,'NCBI Gene Summary',NULL,1391,NULL,'This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(19464,'NCBI Gene PubMed Count',NULL,1391,NULL,NULL,NULL,28,NULL,NULL,NULL),(19465,'NCBI Gene PubMed Count',NULL,1392,NULL,NULL,NULL,6,NULL,NULL,NULL),(19466,'NCBI Gene Summary',NULL,1393,NULL,'The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(19467,'NCBI Gene PubMed Count',NULL,1393,NULL,NULL,NULL,43,NULL,NULL,NULL),(19468,'NCBI Gene PubMed Count',NULL,1394,NULL,NULL,NULL,11,NULL,NULL,NULL),(19469,'NCBI Gene PubMed Count',NULL,1395,NULL,NULL,NULL,7,NULL,NULL,NULL),(19470,'NCBI Gene PubMed Count',NULL,1396,NULL,NULL,NULL,5,NULL,NULL,NULL),(19471,'NCBI Gene Summary',NULL,1397,NULL,'This gene encodes a product belonging to a family of proteins with unknown function. The presence of two transmembrane domains suggests that this protein is a multi-pass membrane protein. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(19472,'NCBI Gene PubMed Count',NULL,1397,NULL,NULL,NULL,2,NULL,NULL,NULL),(19473,'NCBI Gene PubMed Count',NULL,1398,NULL,NULL,NULL,0,NULL,NULL,NULL),(19474,'NCBI Gene PubMed Count',NULL,1399,NULL,NULL,NULL,2,NULL,NULL,NULL),(19475,'NCBI Gene PubMed Count',NULL,1400,NULL,NULL,NULL,5,NULL,NULL,NULL),(19476,'NCBI Gene PubMed Count',NULL,1401,NULL,NULL,NULL,11,NULL,NULL,NULL),(19477,'NCBI Gene Summary',NULL,1402,NULL,'This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19478,'NCBI Gene PubMed Count',NULL,1402,NULL,NULL,NULL,17,NULL,NULL,NULL),(19479,'NCBI Gene PubMed Count',NULL,1403,NULL,NULL,NULL,8,NULL,NULL,NULL),(19480,'NCBI Gene PubMed Count',NULL,1404,NULL,NULL,NULL,2,NULL,NULL,NULL),(19481,'NCBI Gene PubMed Count',NULL,1405,NULL,NULL,NULL,12,NULL,NULL,NULL),(19482,'NCBI Gene PubMed Count',NULL,1406,NULL,NULL,NULL,4,NULL,NULL,NULL),(19483,'NCBI Gene PubMed Count',NULL,1407,NULL,NULL,NULL,9,NULL,NULL,NULL),(19484,'NCBI Gene PubMed Count',NULL,1408,NULL,NULL,NULL,3,NULL,NULL,NULL),(19485,'NCBI Gene Summary',NULL,1409,NULL,'This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(19486,'NCBI Gene PubMed Count',NULL,1409,NULL,NULL,NULL,9,NULL,NULL,NULL),(19487,'NCBI Gene Summary',NULL,1410,NULL,'This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(19488,'NCBI Gene PubMed Count',NULL,1410,NULL,NULL,NULL,16,NULL,NULL,NULL),(19489,'NCBI Gene Summary',NULL,1411,NULL,'This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(19490,'NCBI Gene PubMed Count',NULL,1411,NULL,NULL,NULL,12,NULL,NULL,NULL),(19491,'NCBI Gene PubMed Count',NULL,1412,NULL,NULL,NULL,11,NULL,NULL,NULL),(19492,'NCBI Gene PubMed Count',NULL,1413,NULL,NULL,NULL,6,NULL,NULL,NULL),(19493,'NCBI Gene PubMed Count',NULL,1414,NULL,NULL,NULL,5,NULL,NULL,NULL),(19494,'NCBI Gene PubMed Count',NULL,1415,NULL,NULL,NULL,9,NULL,NULL,NULL),(19495,'NCBI Gene PubMed Count',NULL,1416,NULL,NULL,NULL,3,NULL,NULL,NULL),(19496,'NCBI Gene PubMed Count',NULL,1417,NULL,NULL,NULL,0,NULL,NULL,NULL),(19497,'NCBI Gene PubMed Count',NULL,1418,NULL,NULL,NULL,2,NULL,NULL,NULL),(19498,'NCBI Gene PubMed Count',NULL,1419,NULL,NULL,NULL,5,NULL,NULL,NULL),(19499,'NCBI Gene PubMed Count',NULL,1420,NULL,NULL,NULL,10,NULL,NULL,NULL),(19500,'NCBI Gene Summary',NULL,1421,NULL,'The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(19501,'NCBI Gene PubMed Count',NULL,1421,NULL,NULL,NULL,9,NULL,NULL,NULL),(19502,'NCBI Gene PubMed Count',NULL,1422,NULL,NULL,NULL,2,NULL,NULL,NULL),(19503,'NCBI Gene PubMed Count',NULL,1423,NULL,NULL,NULL,8,NULL,NULL,NULL),(19504,'NCBI Gene PubMed Count',NULL,1424,NULL,NULL,NULL,4,NULL,NULL,NULL),(19505,'NCBI Gene PubMed Count',NULL,1425,NULL,NULL,NULL,5,NULL,NULL,NULL),(19506,'NCBI Gene PubMed Count',NULL,1426,NULL,NULL,NULL,3,NULL,NULL,NULL),(19507,'NCBI Gene PubMed Count',NULL,1427,NULL,NULL,NULL,1,NULL,NULL,NULL),(19508,'NCBI Gene PubMed Count',NULL,1431,NULL,NULL,NULL,3,NULL,NULL,NULL),(19509,'NCBI Gene PubMed Count',NULL,1433,NULL,NULL,NULL,0,NULL,NULL,NULL),(19510,'NCBI Gene PubMed Count',NULL,1434,NULL,NULL,NULL,0,NULL,NULL,NULL),(19511,'NCBI Gene PubMed Count',NULL,1435,NULL,NULL,NULL,1,NULL,NULL,NULL),(19512,'NCBI Gene PubMed Count',NULL,1436,NULL,NULL,NULL,1,NULL,NULL,NULL),(19513,'NCBI Gene PubMed Count',NULL,1437,NULL,NULL,NULL,0,NULL,NULL,NULL),(19514,'NCBI Gene PubMed Count',NULL,1438,NULL,NULL,NULL,6,NULL,NULL,NULL),(19515,'NCBI Gene PubMed Count',NULL,1439,NULL,NULL,NULL,10,NULL,NULL,NULL),(19516,'NCBI Gene Summary',NULL,1440,NULL,'The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19517,'NCBI Gene PubMed Count',NULL,1440,NULL,NULL,NULL,38,NULL,NULL,NULL),(19518,'NCBI Gene PubMed Count',NULL,1441,NULL,NULL,NULL,5,NULL,NULL,NULL),(19519,'NCBI Gene PubMed Count',NULL,1442,NULL,NULL,NULL,3,NULL,NULL,NULL),(19520,'NCBI Gene PubMed Count',NULL,1443,NULL,NULL,NULL,3,NULL,NULL,NULL),(19521,'NCBI Gene PubMed Count',NULL,1444,NULL,NULL,NULL,3,NULL,NULL,NULL),(19522,'NCBI Gene PubMed Count',NULL,1445,NULL,NULL,NULL,4,NULL,NULL,NULL),(19523,'NCBI Gene PubMed Count',NULL,1446,NULL,NULL,NULL,0,NULL,NULL,NULL),(19524,'NCBI Gene PubMed Count',NULL,1447,NULL,NULL,NULL,2,NULL,NULL,NULL),(19525,'NCBI Gene Summary',NULL,1448,NULL,'FAM90A8 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19526,'NCBI Gene PubMed Count',NULL,1448,NULL,NULL,NULL,2,NULL,NULL,NULL),(19527,'NCBI Gene Summary',NULL,1449,NULL,'FAM90A9 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19528,'NCBI Gene PubMed Count',NULL,1449,NULL,NULL,NULL,2,NULL,NULL,NULL),(19529,'NCBI Gene Summary',NULL,1450,NULL,'FAM90A18 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19530,'NCBI Gene PubMed Count',NULL,1450,NULL,NULL,NULL,2,NULL,NULL,NULL),(19531,'NCBI Gene Summary',NULL,1451,NULL,'FAM90A15 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19532,'NCBI Gene PubMed Count',NULL,1451,NULL,NULL,NULL,2,NULL,NULL,NULL),(19533,'NCBI Gene Summary',NULL,1452,NULL,'FAM90A20 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19534,'NCBI Gene PubMed Count',NULL,1452,NULL,NULL,NULL,3,NULL,NULL,NULL),(19535,'NCBI Gene PubMed Count',NULL,1453,NULL,NULL,NULL,2,NULL,NULL,NULL),(19536,'NCBI Gene PubMed Count',NULL,1454,NULL,NULL,NULL,2,NULL,NULL,NULL),(19537,'NCBI Gene PubMed Count',NULL,1455,NULL,NULL,NULL,1,NULL,NULL,NULL),(19538,'NCBI Gene Summary',NULL,1456,NULL,'This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19539,'NCBI Gene PubMed Count',NULL,1456,NULL,NULL,NULL,194,NULL,NULL,NULL),(19540,'NCBI Gene Summary',NULL,1457,NULL,'This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(19541,'NCBI Gene PubMed Count',NULL,1457,NULL,NULL,NULL,290,NULL,NULL,NULL),(19542,'NCBI Gene PubMed Count',NULL,1458,NULL,NULL,NULL,39,NULL,NULL,NULL),(19543,'NCBI Gene PubMed Count',NULL,1459,NULL,NULL,NULL,13,NULL,NULL,NULL),(19544,'NCBI Gene PubMed Count',NULL,1460,NULL,NULL,NULL,20,NULL,NULL,NULL),(19545,'NCBI Gene PubMed Count',NULL,1461,NULL,NULL,NULL,10,NULL,NULL,NULL),(19546,'NCBI Gene Summary',NULL,1462,NULL,'This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(19547,'NCBI Gene PubMed Count',NULL,1462,NULL,NULL,NULL,13,NULL,NULL,NULL),(19548,'NCBI Gene PubMed Count',NULL,1463,NULL,NULL,NULL,6,NULL,NULL,NULL),(19549,'NCBI Gene Summary',NULL,1464,NULL,'This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(19550,'NCBI Gene PubMed Count',NULL,1464,NULL,NULL,NULL,1259,NULL,NULL,NULL),(19551,'NCBI Gene PubMed Count',NULL,1465,NULL,NULL,NULL,6,NULL,NULL,NULL),(19552,'NCBI Gene Summary',NULL,1466,NULL,'This gene encodes a protein that interacts with the Rab2B small GTPase and may be important for integrity of the Golgi body. A knockdown of this gene induces fragmentation of the Golgi, similar to the effect seen with a knockdown of the Rab2B small GTPase. The encoded protein has an N-terminal Rab-binding domain specific for Rab2B. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(19553,'NCBI Gene PubMed Count',NULL,1466,NULL,NULL,NULL,7,NULL,NULL,NULL),(19554,'NCBI Gene PubMed Count',NULL,1467,NULL,NULL,NULL,6,NULL,NULL,NULL),(19555,'NCBI Gene PubMed Count',NULL,1468,NULL,NULL,NULL,6,NULL,NULL,NULL),(19556,'NCBI Gene PubMed Count',NULL,1469,NULL,NULL,NULL,22,NULL,NULL,NULL),(19557,'NCBI Gene Summary',NULL,1470,NULL,'This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(19558,'NCBI Gene PubMed Count',NULL,1470,NULL,NULL,NULL,45,NULL,NULL,NULL),(19559,'NCBI Gene Summary',NULL,1471,NULL,'This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be involved in epithelial differentiation and carcinogenesis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(19560,'NCBI Gene PubMed Count',NULL,1471,NULL,NULL,NULL,53,NULL,NULL,NULL),(19561,'NCBI Gene Summary',NULL,1472,NULL,'The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(19562,'NCBI Gene PubMed Count',NULL,1472,NULL,NULL,NULL,81,NULL,NULL,NULL),(19563,'NCBI Gene Summary',NULL,1473,NULL,'This gene encodes the transcriptionally active subunit of the SIII (or elongin) transcription elongation factor complex, which also includes two regulatory subunits, elongins B and C. This complex acts to increase the rate of RNA chain elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites along the DNA template. Whereas a related protein with similar function, elongin A, is ubiquitously expressed, the encoded protein is specifically expressed in the testis, suggesting it may have a role in spermatogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19564,'NCBI Gene PubMed Count',NULL,1473,NULL,NULL,NULL,8,NULL,NULL,NULL),(19565,'NCBI Gene PubMed Count',NULL,1474,NULL,NULL,NULL,51,NULL,NULL,NULL),(19566,'NCBI Gene PubMed Count',NULL,1475,NULL,NULL,NULL,15,NULL,NULL,NULL),(19567,'NCBI Gene Summary',NULL,1476,NULL,'This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19568,'NCBI Gene PubMed Count',NULL,1476,NULL,NULL,NULL,22,NULL,NULL,NULL),(19569,'NCBI Gene Summary',NULL,1477,NULL,'This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19570,'NCBI Gene PubMed Count',NULL,1477,NULL,NULL,NULL,61,NULL,NULL,NULL),(19571,'NCBI Gene Summary',NULL,1478,NULL,'This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19572,'NCBI Gene PubMed Count',NULL,1478,NULL,NULL,NULL,79,NULL,NULL,NULL),(19573,'NCBI Gene Summary',NULL,1479,NULL,'This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major histocompatibility complex (MHC) class I molecules. Certain mutations in this gene are associated with the inflammatory arthritis syndrome ankylosing spondylitis and pre-eclampsia. This gene is located adjacent to a closely related aminopeptidase gene on chromosome 5. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(19574,'NCBI Gene PubMed Count',NULL,1479,NULL,NULL,NULL,55,NULL,NULL,NULL),(19575,'NCBI Gene PubMed Count',NULL,1480,NULL,NULL,NULL,7,NULL,NULL,NULL),(19576,'NCBI Gene Summary',NULL,1481,NULL,'The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(19577,'NCBI Gene PubMed Count',NULL,1481,NULL,NULL,NULL,46,NULL,NULL,NULL),(19578,'NCBI Gene Summary',NULL,1482,NULL,'This gene encodes a protein with 5\' to 3\' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19579,'NCBI Gene PubMed Count',NULL,1482,NULL,NULL,NULL,105,NULL,NULL,NULL),(19580,'NCBI Gene PubMed Count',NULL,1483,NULL,NULL,NULL,30,NULL,NULL,NULL),(19581,'NCBI Gene PubMed Count',NULL,1484,NULL,NULL,NULL,34,NULL,NULL,NULL),(19582,'NCBI Gene Summary',NULL,1485,NULL,'This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19583,'NCBI Gene PubMed Count',NULL,1485,NULL,NULL,NULL,105,NULL,NULL,NULL),(19584,'NCBI Gene Summary',NULL,1486,NULL,'This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19585,'NCBI Gene PubMed Count',NULL,1486,NULL,NULL,NULL,11,NULL,NULL,NULL),(19586,'NCBI Gene Summary',NULL,1487,NULL,'The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(19587,'NCBI Gene PubMed Count',NULL,1487,NULL,NULL,NULL,49,NULL,NULL,NULL),(19588,'NCBI Gene PubMed Count',NULL,1488,NULL,NULL,NULL,6,NULL,NULL,NULL),(19589,'NCBI Gene PubMed Count',NULL,1489,NULL,NULL,NULL,6,NULL,NULL,NULL),(19590,'NCBI Gene PubMed Count',NULL,1490,NULL,NULL,NULL,4,NULL,NULL,NULL),(19591,'NCBI Gene PubMed Count',NULL,1491,NULL,NULL,NULL,3,NULL,NULL,NULL),(19592,'NCBI Gene PubMed Count',NULL,1492,NULL,NULL,NULL,32,NULL,NULL,NULL),(19593,'NCBI Gene Summary',NULL,1493,NULL,'The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(19594,'NCBI Gene PubMed Count',NULL,1493,NULL,NULL,NULL,11,NULL,NULL,NULL),(19595,'NCBI Gene Summary',NULL,1494,NULL,'This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin&#8208;like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(19596,'NCBI Gene PubMed Count',NULL,1494,NULL,NULL,NULL,9,NULL,NULL,NULL),(19597,'NCBI Gene PubMed Count',NULL,1495,NULL,NULL,NULL,16,NULL,NULL,NULL),(19598,'NCBI Gene Summary',NULL,1496,NULL,'This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(19599,'NCBI Gene PubMed Count',NULL,1496,NULL,NULL,NULL,26,NULL,NULL,NULL),(19600,'NCBI Gene Summary',NULL,1497,NULL,'This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19601,'NCBI Gene PubMed Count',NULL,1497,NULL,NULL,NULL,316,NULL,NULL,NULL),(19602,'NCBI Gene Summary',NULL,1498,NULL,'This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone.  These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19603,'NCBI Gene PubMed Count',NULL,1498,NULL,NULL,NULL,73,NULL,NULL,NULL),(19604,'NCBI Gene PubMed Count',NULL,1499,NULL,NULL,NULL,7,NULL,NULL,NULL),(19605,'NCBI Gene PubMed Count',NULL,1500,NULL,NULL,NULL,5,NULL,NULL,NULL),(19606,'NCBI Gene Summary',NULL,1501,NULL,'The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(19607,'NCBI Gene PubMed Count',NULL,1501,NULL,NULL,NULL,14,NULL,NULL,NULL),(19608,'NCBI Gene PubMed Count',NULL,1502,NULL,NULL,NULL,2,NULL,NULL,NULL),(19609,'NCBI Gene PubMed Count',NULL,1503,NULL,NULL,NULL,9,NULL,NULL,NULL),(19610,'NCBI Gene PubMed Count',NULL,1504,NULL,NULL,NULL,7,NULL,NULL,NULL),(19611,'NCBI Gene PubMed Count',NULL,1505,NULL,NULL,NULL,7,NULL,NULL,NULL),(19612,'NCBI Gene PubMed Count',NULL,1506,NULL,NULL,NULL,3,NULL,NULL,NULL),(19613,'NCBI Gene PubMed Count',NULL,1507,NULL,NULL,NULL,5,NULL,NULL,NULL),(19614,'NCBI Gene PubMed Count',NULL,1508,NULL,NULL,NULL,6,NULL,NULL,NULL),(19615,'NCBI Gene PubMed Count',NULL,1509,NULL,NULL,NULL,1,NULL,NULL,NULL),(19616,'NCBI Gene PubMed Count',NULL,1510,NULL,NULL,NULL,6,NULL,NULL,NULL),(19617,'NCBI Gene PubMed Count',NULL,1511,NULL,NULL,NULL,3,NULL,NULL,NULL),(19618,'NCBI Gene PubMed Count',NULL,1512,NULL,NULL,NULL,3,NULL,NULL,NULL),(19619,'NCBI Gene PubMed Count',NULL,1513,NULL,NULL,NULL,4,NULL,NULL,NULL),(19620,'NCBI Gene PubMed Count',NULL,1514,NULL,NULL,NULL,3,NULL,NULL,NULL),(19621,'NCBI Gene Summary',NULL,1515,NULL,'This gene encodes a member of a conserved protein family. Alternative splicing results in multiple transcript variants. This gene is thought to be associated with susceptibility to juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(19622,'NCBI Gene PubMed Count',NULL,1515,NULL,NULL,NULL,7,NULL,NULL,NULL),(19623,'NCBI Gene PubMed Count',NULL,1516,NULL,NULL,NULL,3,NULL,NULL,NULL),(19624,'NCBI Gene PubMed Count',NULL,1517,NULL,NULL,NULL,1,NULL,NULL,NULL),(19625,'NCBI Gene PubMed Count',NULL,1518,NULL,NULL,NULL,8,NULL,NULL,NULL),(19626,'NCBI Gene PubMed Count',NULL,1519,NULL,NULL,NULL,8,NULL,NULL,NULL),(19627,'NCBI Gene PubMed Count',NULL,1520,NULL,NULL,NULL,8,NULL,NULL,NULL),(19628,'NCBI Gene Summary',NULL,1521,NULL,'This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19629,'NCBI Gene PubMed Count',NULL,1521,NULL,NULL,NULL,14,NULL,NULL,NULL),(19630,'NCBI Gene PubMed Count',NULL,1522,NULL,NULL,NULL,7,NULL,NULL,NULL),(19631,'NCBI Gene PubMed Count',NULL,1523,NULL,NULL,NULL,7,NULL,NULL,NULL),(19632,'NCBI Gene PubMed Count',NULL,1524,NULL,NULL,NULL,6,NULL,NULL,NULL),(19633,'NCBI Gene PubMed Count',NULL,1525,NULL,NULL,NULL,5,NULL,NULL,NULL),(19634,'NCBI Gene PubMed Count',NULL,1526,NULL,NULL,NULL,4,NULL,NULL,NULL),(19635,'NCBI Gene PubMed Count',NULL,1527,NULL,NULL,NULL,5,NULL,NULL,NULL),(19636,'NCBI Gene PubMed Count',NULL,1528,NULL,NULL,NULL,5,NULL,NULL,NULL),(19637,'NCBI Gene PubMed Count',NULL,1529,NULL,NULL,NULL,5,NULL,NULL,NULL),(19638,'NCBI Gene PubMed Count',NULL,1530,NULL,NULL,NULL,5,NULL,NULL,NULL),(19639,'NCBI Gene PubMed Count',NULL,1531,NULL,NULL,NULL,5,NULL,NULL,NULL),(19640,'NCBI Gene PubMed Count',NULL,1532,NULL,NULL,NULL,7,NULL,NULL,NULL),(19641,'NCBI Gene PubMed Count',NULL,1533,NULL,NULL,NULL,1,NULL,NULL,NULL),(19642,'NCBI Gene PubMed Count',NULL,1534,NULL,NULL,NULL,3,NULL,NULL,NULL),(19643,'NCBI Gene PubMed Count',NULL,1535,NULL,NULL,NULL,2,NULL,NULL,NULL),(19644,'NCBI Gene PubMed Count',NULL,1536,NULL,NULL,NULL,3,NULL,NULL,NULL),(19645,'NCBI Gene PubMed Count',NULL,1537,NULL,NULL,NULL,6,NULL,NULL,NULL),(19646,'NCBI Gene PubMed Count',NULL,1538,NULL,NULL,NULL,6,NULL,NULL,NULL),(19647,'NCBI Gene PubMed Count',NULL,1539,NULL,NULL,NULL,1,NULL,NULL,NULL),(19648,'NCBI Gene PubMed Count',NULL,1540,NULL,NULL,NULL,5,NULL,NULL,NULL),(19649,'NCBI Gene PubMed Count',NULL,1541,NULL,NULL,NULL,19,NULL,NULL,NULL),(19650,'NCBI Gene PubMed Count',NULL,1542,NULL,NULL,NULL,6,NULL,NULL,NULL),(19651,'NCBI Gene PubMed Count',NULL,1543,NULL,NULL,NULL,0,NULL,NULL,NULL),(19652,'NCBI Gene PubMed Count',NULL,1544,NULL,NULL,NULL,0,NULL,NULL,NULL),(19653,'NCBI Gene PubMed Count',NULL,1545,NULL,NULL,NULL,2,NULL,NULL,NULL),(19654,'NCBI Gene PubMed Count',NULL,1546,NULL,NULL,NULL,0,NULL,NULL,NULL),(19655,'NCBI Gene Summary',NULL,1547,NULL,'This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(19656,'NCBI Gene PubMed Count',NULL,1547,NULL,NULL,NULL,19,NULL,NULL,NULL),(19657,'NCBI Gene Summary',NULL,1548,NULL,'This gene encodes a eukaryotic translation initiation factor that catalyzes the formation of puromycin-sensitive 80 S preinitiation complexes and the poly(U)-directed synthesis of polyphenylalanine at low concentrations of Mg2+. This gene should not be confused with eIF2-alpha (EIF2S1, Gene ID: 1965), the alpha subunit of the eIF2 translation initiation complex. Although both of these proteins function in binding initiator tRNA to the 40 S ribosomal subunit, the encoded protein does so in a codon-dependent manner, whereas eIF2 complex requires GTP. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(19658,'NCBI Gene PubMed Count',NULL,1548,NULL,NULL,NULL,17,NULL,NULL,NULL),(19659,'NCBI Gene PubMed Count',NULL,1549,NULL,NULL,NULL,4,NULL,NULL,NULL),(19660,'NCBI Gene PubMed Count',NULL,1550,NULL,NULL,NULL,5,NULL,NULL,NULL),(19661,'NCBI Gene Summary',NULL,1551,NULL,'The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(19662,'NCBI Gene PubMed Count',NULL,1551,NULL,NULL,NULL,92,NULL,NULL,NULL),(19663,'NCBI Gene Summary',NULL,1552,NULL,'The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19664,'NCBI Gene PubMed Count',NULL,1552,NULL,NULL,NULL,33,NULL,NULL,NULL),(19665,'NCBI Gene PubMed Count',NULL,1553,NULL,NULL,NULL,41,NULL,NULL,NULL),(19666,'NCBI Gene Summary',NULL,1554,NULL,'This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19667,'NCBI Gene PubMed Count',NULL,1554,NULL,NULL,NULL,30,NULL,NULL,NULL),(19668,'NCBI Gene Summary',NULL,1555,NULL,'Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(19669,'NCBI Gene PubMed Count',NULL,1555,NULL,NULL,NULL,27,NULL,NULL,NULL),(19670,'NCBI Gene Summary',NULL,1556,NULL,'This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(19671,'NCBI Gene PubMed Count',NULL,1556,NULL,NULL,NULL,13,NULL,NULL,NULL),(19672,'NCBI Gene PubMed Count',NULL,1557,NULL,NULL,NULL,13,NULL,NULL,NULL),(19673,'NCBI Gene PubMed Count',NULL,1558,NULL,NULL,NULL,11,NULL,NULL,NULL),(19674,'NCBI Gene Summary',NULL,1559,NULL,'The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(19675,'NCBI Gene PubMed Count',NULL,1559,NULL,NULL,NULL,18,NULL,NULL,NULL),(19676,'NCBI Gene Summary',NULL,1560,NULL,'The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein\'s activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(19677,'NCBI Gene PubMed Count',NULL,1560,NULL,NULL,NULL,118,NULL,NULL,NULL),(19678,'NCBI Gene Summary',NULL,1561,NULL,'The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. Expression of this gene has been observed in embryos and olfactory epithelium; however, the exact function of this gene is not known. This isozyme is a selenoprotein in humans, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The orthologs of this gene in mouse and rat (and some other species) contain a cysteine (Cys) residue in place of the Sec residue, and their corresponding mRNAs lack SECIS element. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(19679,'NCBI Gene PubMed Count',NULL,1561,NULL,NULL,NULL,10,NULL,NULL,NULL),(19680,'NCBI Gene PubMed Count',NULL,1562,NULL,NULL,NULL,14,NULL,NULL,NULL),(19681,'NCBI Gene Summary',NULL,1563,NULL,'Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(19682,'NCBI Gene PubMed Count',NULL,1563,NULL,NULL,NULL,43,NULL,NULL,NULL),(19683,'NCBI Gene Summary',NULL,1564,NULL,'The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19684,'NCBI Gene PubMed Count',NULL,1564,NULL,NULL,NULL,11,NULL,NULL,NULL),(19685,'NCBI Gene Summary',NULL,1565,NULL,'This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(19686,'NCBI Gene PubMed Count',NULL,1565,NULL,NULL,NULL,24,NULL,NULL,NULL),(19687,'NCBI Gene PubMed Count',NULL,1566,NULL,NULL,NULL,6,NULL,NULL,NULL),(19688,'NCBI Gene PubMed Count',NULL,1567,NULL,NULL,NULL,12,NULL,NULL,NULL),(19689,'NCBI Gene PubMed Count',NULL,1568,NULL,NULL,NULL,14,NULL,NULL,NULL),(19690,'NCBI Gene PubMed Count',NULL,1569,NULL,NULL,NULL,33,NULL,NULL,NULL),(19691,'NCBI Gene Summary',NULL,1570,NULL,'Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19692,'NCBI Gene PubMed Count',NULL,1570,NULL,NULL,NULL,410,NULL,NULL,NULL),(19693,'NCBI Gene Summary',NULL,1571,NULL,'This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(19694,'NCBI Gene PubMed Count',NULL,1571,NULL,NULL,NULL,214,NULL,NULL,NULL),(19695,'NCBI Gene Summary',NULL,1572,NULL,'This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(19696,'NCBI Gene PubMed Count',NULL,1572,NULL,NULL,NULL,26,NULL,NULL,NULL),(19697,'NCBI Gene Summary',NULL,1573,NULL,'This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19698,'NCBI Gene PubMed Count',NULL,1573,NULL,NULL,NULL,49,NULL,NULL,NULL),(19699,'NCBI Gene Summary',NULL,1574,NULL,'The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer\'s disease. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(19700,'NCBI Gene PubMed Count',NULL,1574,NULL,NULL,NULL,13,NULL,NULL,NULL),(19701,'NCBI Gene PubMed Count',NULL,1575,NULL,NULL,NULL,6,NULL,NULL,NULL),(19702,'NCBI Gene PubMed Count',NULL,1576,NULL,NULL,NULL,53,NULL,NULL,NULL),(19703,'NCBI Gene Summary',NULL,1577,NULL,'The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5\' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(19704,'NCBI Gene PubMed Count',NULL,1577,NULL,NULL,NULL,29,NULL,NULL,NULL),(19705,'NCBI Gene Summary',NULL,1578,NULL,'The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(19706,'NCBI Gene PubMed Count',NULL,1578,NULL,NULL,NULL,34,NULL,NULL,NULL),(19707,'NCBI Gene Summary',NULL,1579,NULL,'This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19708,'NCBI Gene PubMed Count',NULL,1579,NULL,NULL,NULL,98,NULL,NULL,NULL),(19709,'NCBI Gene Summary',NULL,1580,NULL,'This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3\' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(19710,'NCBI Gene PubMed Count',NULL,1580,NULL,NULL,NULL,17,NULL,NULL,NULL),(19711,'NCBI Gene PubMed Count',NULL,1581,NULL,NULL,NULL,4,NULL,NULL,NULL),(19712,'NCBI Gene PubMed Count',NULL,1582,NULL,NULL,NULL,4,NULL,NULL,NULL),(19713,'NCBI Gene Summary',NULL,1583,NULL,'This gene encodes a member of the bombesin-like family of gastrin-releasing peptides. The encoded preproprotein is proteolytically processed to generate two peptides, gastrin-releasing peptide and neuromedin-C. These peptides regulate numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation. These peptides are also likely to play a role in human cancers of the lung, colon, stomach, pancreas, breast, and prostate. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(19714,'NCBI Gene PubMed Count',NULL,1583,NULL,NULL,NULL,77,NULL,NULL,NULL),(19715,'NCBI Gene PubMed Count',NULL,1584,NULL,NULL,NULL,5,NULL,NULL,NULL),(19716,'NCBI Gene PubMed Count',NULL,1585,NULL,NULL,NULL,3,NULL,NULL,NULL),(19717,'NCBI Gene PubMed Count',NULL,1586,NULL,NULL,NULL,24,NULL,NULL,NULL),(19718,'NCBI Gene PubMed Count',NULL,1587,NULL,NULL,NULL,4,NULL,NULL,NULL),(19719,'NCBI Gene PubMed Count',NULL,1588,NULL,NULL,NULL,8,NULL,NULL,NULL),(19720,'NCBI Gene PubMed Count',NULL,1589,NULL,NULL,NULL,3,NULL,NULL,NULL),(19721,'NCBI Gene PubMed Count',NULL,1590,NULL,NULL,NULL,4,NULL,NULL,NULL),(19722,'NCBI Gene Summary',NULL,1591,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(19723,'NCBI Gene PubMed Count',NULL,1591,NULL,NULL,NULL,23,NULL,NULL,NULL),(19724,'NCBI Gene Summary',NULL,1592,NULL,'Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19725,'NCBI Gene PubMed Count',NULL,1592,NULL,NULL,NULL,46,NULL,NULL,NULL),(19726,'NCBI Gene Summary',NULL,1593,NULL,'This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19727,'NCBI Gene PubMed Count',NULL,1593,NULL,NULL,NULL,29,NULL,NULL,NULL),(19728,'NCBI Gene PubMed Count',NULL,1594,NULL,NULL,NULL,30,NULL,NULL,NULL),(19729,'NCBI Gene PubMed Count',NULL,1595,NULL,NULL,NULL,49,NULL,NULL,NULL),(19730,'NCBI Gene Summary',NULL,1596,NULL,'The SIII (or elongin) transcription elongation factor complex stimulates the rate of transcription elongation by RNA polymerase II by suppressing the transient pausing of the polymerase at many sites along the DNA template. This complex is a heterotrimer, composed of the transcriptionally active subunit A, A2 or A3 (or elongin A, A2 or A3) and two regulatory subunits, B and C (or elongin B and C). This gene encodes subunit A3. A3 and A are ubiquitously expressed, whereas A2 is specifically expressed in the testis. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(19731,'NCBI Gene PubMed Count',NULL,1596,NULL,NULL,NULL,4,NULL,NULL,NULL),(19732,'NCBI Gene Summary',NULL,1597,NULL,'This gene encodes the protein elongin B, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. Pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(19733,'NCBI Gene PubMed Count',NULL,1597,NULL,NULL,NULL,58,NULL,NULL,NULL),(19734,'NCBI Gene Summary',NULL,1598,NULL,'This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(19735,'NCBI Gene PubMed Count',NULL,1598,NULL,NULL,NULL,89,NULL,NULL,NULL),(19736,'NCBI Gene Summary',NULL,1599,NULL,'The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(19737,'NCBI Gene PubMed Count',NULL,1599,NULL,NULL,NULL,13,NULL,NULL,NULL),(19738,'NCBI Gene PubMed Count',NULL,1600,NULL,NULL,NULL,21,NULL,NULL,NULL),(19739,'NCBI Gene Summary',NULL,1601,NULL,'The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3\' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(19740,'NCBI Gene PubMed Count',NULL,1601,NULL,NULL,NULL,21,NULL,NULL,NULL),(19741,'NCBI Gene PubMed Count',NULL,1602,NULL,NULL,NULL,63,NULL,NULL,NULL),(19742,'NCBI Gene Summary',NULL,1603,NULL,'This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(19743,'NCBI Gene PubMed Count',NULL,1603,NULL,NULL,NULL,253,NULL,NULL,NULL),(19744,'NCBI Gene PubMed Count',NULL,1604,NULL,NULL,NULL,30,NULL,NULL,NULL),(19745,'NCBI Gene Summary',NULL,1605,NULL,'This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(19746,'NCBI Gene PubMed Count',NULL,1605,NULL,NULL,NULL,36,NULL,NULL,NULL),(19747,'NCBI Gene PubMed Count',NULL,1606,NULL,NULL,NULL,14,NULL,NULL,NULL),(19748,'NCBI Gene PubMed Count',NULL,1607,NULL,NULL,NULL,2,NULL,NULL,NULL),(19749,'NCBI Gene Summary',NULL,1608,NULL,'This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(19750,'NCBI Gene PubMed Count',NULL,1608,NULL,NULL,NULL,330,NULL,NULL,NULL),(19751,'NCBI Gene PubMed Count',NULL,1609,NULL,NULL,NULL,88,NULL,NULL,NULL),(19752,'NCBI Gene Summary',NULL,1610,NULL,'This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(19753,'NCBI Gene PubMed Count',NULL,1610,NULL,NULL,NULL,238,NULL,NULL,NULL),(19754,'NCBI Gene Summary',NULL,1611,NULL,'The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(19755,'NCBI Gene PubMed Count',NULL,1611,NULL,NULL,NULL,18,NULL,NULL,NULL),(19756,'NCBI Gene PubMed Count',NULL,1612,NULL,NULL,NULL,8,NULL,NULL,NULL),(19757,'NCBI Gene PubMed Count',NULL,1613,NULL,NULL,NULL,19,NULL,NULL,NULL),(19758,'NCBI Gene Summary',NULL,1614,NULL,'The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(19759,'NCBI Gene PubMed Count',NULL,1614,NULL,NULL,NULL,12,NULL,NULL,NULL),(19760,'NCBI Gene PubMed Count',NULL,1615,NULL,NULL,NULL,2,NULL,NULL,NULL),(19761,'NCBI Gene Summary',NULL,1616,NULL,'This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(19762,'NCBI Gene PubMed Count',NULL,1616,NULL,NULL,NULL,29,NULL,NULL,NULL),(19763,'NCBI Gene Summary',NULL,1617,NULL,'This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. Mutations in this gene may be related to Joubert syndrome. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(19764,'NCBI Gene PubMed Count',NULL,1617,NULL,NULL,NULL,24,NULL,NULL,NULL),(19765,'NCBI Gene Summary',NULL,1618,NULL,'This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition of human exosome is similar to its yeast counterpart. This protein is homologous to the yeast Mtr3 protein. Its exact function is not known, however, it has been shown using a cell-free RNA decay system that the exosome is required for rapid degradation of unstable mRNAs containing AU-rich elements (AREs), but not for poly(A) shortening. The exosome does not recognize ARE-containing mRNAs on its own, but requires ARE-binding proteins that could interact with the exosome and recruit it to unstable mRNAs, thereby promoting their rapid degradation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19766,'NCBI Gene PubMed Count',NULL,1618,NULL,NULL,NULL,14,NULL,NULL,NULL),(19767,'NCBI Gene Summary',NULL,1619,NULL,'This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(19768,'NCBI Gene PubMed Count',NULL,1619,NULL,NULL,NULL,73,NULL,NULL,NULL),(19769,'NCBI Gene PubMed Count',NULL,1620,NULL,NULL,NULL,26,NULL,NULL,NULL),(19770,'NCBI Gene Summary',NULL,1621,NULL,'The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(19771,'NCBI Gene PubMed Count',NULL,1621,NULL,NULL,NULL,16,NULL,NULL,NULL),(19772,'NCBI Gene Summary',NULL,1622,NULL,'EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(19773,'NCBI Gene PubMed Count',NULL,1622,NULL,NULL,NULL,26,NULL,NULL,NULL),(19774,'NCBI Gene Summary',NULL,1623,NULL,'This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(19775,'NCBI Gene PubMed Count',NULL,1623,NULL,NULL,NULL,856,NULL,NULL,NULL),(19776,'NCBI Gene PubMed Count',NULL,1624,NULL,NULL,NULL,6,NULL,NULL,NULL),(19777,'NCBI Gene PubMed Count',NULL,1625,NULL,NULL,NULL,8,NULL,NULL,NULL),(19778,'NCBI Gene PubMed Count',NULL,1626,NULL,NULL,NULL,4,NULL,NULL,NULL),(19779,'NCBI Gene Summary',NULL,1627,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19780,'NCBI Gene PubMed Count',NULL,1627,NULL,NULL,NULL,90,NULL,NULL,NULL),(19781,'NCBI Gene PubMed Count',NULL,1628,NULL,NULL,NULL,11,NULL,NULL,NULL),(19782,'NCBI Gene Summary',NULL,1629,NULL,'This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(19783,'NCBI Gene PubMed Count',NULL,1629,NULL,NULL,NULL,254,NULL,NULL,NULL),(19784,'NCBI Gene Summary',NULL,1630,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the H2B histone family that is specifically expressed in sperm nuclei. A polymorphism in the 5\' UTR of this gene is associated with male infertility.[provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(19785,'NCBI Gene PubMed Count',NULL,1630,NULL,NULL,NULL,12,NULL,NULL,NULL),(19786,'NCBI Gene Summary',NULL,1631,NULL,'The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(19787,'NCBI Gene PubMed Count',NULL,1631,NULL,NULL,NULL,16,NULL,NULL,NULL),(19788,'NCBI Gene Summary',NULL,1632,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(19789,'NCBI Gene PubMed Count',NULL,1632,NULL,NULL,NULL,99,NULL,NULL,NULL),(19790,'NCBI Gene Summary',NULL,1633,NULL,'The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19791,'NCBI Gene PubMed Count',NULL,1633,NULL,NULL,NULL,22,NULL,NULL,NULL),(19792,'NCBI Gene PubMed Count',NULL,1634,NULL,NULL,NULL,5,NULL,NULL,NULL),(19793,'NCBI Gene Summary',NULL,1635,NULL,'This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be a nuclear protein that is localized to the nucleolus, and has some similarity to a synaptonemal complex protein. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(19794,'NCBI Gene PubMed Count',NULL,1635,NULL,NULL,NULL,5,NULL,NULL,NULL),(19795,'NCBI Gene Summary',NULL,1636,NULL,'This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5\' flap endonuclease and 5\'-3\' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(19796,'NCBI Gene PubMed Count',NULL,1636,NULL,NULL,NULL,30,NULL,NULL,NULL),(19797,'NCBI Gene PubMed Count',NULL,1637,NULL,NULL,NULL,5,NULL,NULL,NULL),(19798,'NCBI Gene Summary',NULL,1638,NULL,'This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(19799,'NCBI Gene PubMed Count',NULL,1638,NULL,NULL,NULL,27,NULL,NULL,NULL),(19800,'NCBI Gene Summary',NULL,1639,NULL,'The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(19801,'NCBI Gene PubMed Count',NULL,1639,NULL,NULL,NULL,5043,NULL,NULL,NULL),(19802,'NCBI Gene PubMed Count',NULL,1640,NULL,NULL,NULL,22,NULL,NULL,NULL),(19803,'NCBI Gene PubMed Count',NULL,1641,NULL,NULL,NULL,8,NULL,NULL,NULL),(19804,'NCBI Gene Summary',NULL,1642,NULL,'The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(19805,'NCBI Gene PubMed Count',NULL,1642,NULL,NULL,NULL,65,NULL,NULL,NULL),(19806,'NCBI Gene PubMed Count',NULL,1643,NULL,NULL,NULL,47,NULL,NULL,NULL),(19807,'NCBI Gene PubMed Count',NULL,1644,NULL,NULL,NULL,47,NULL,NULL,NULL),(19808,'NCBI Gene Summary',NULL,1645,NULL,'This gene encodes a peptide hormone that binds to the Apelin receptor. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic stem cells through activation of the PI3K/AKT pathway. Experiments in human and mouse cell lines point to additional roles for the encoded protein in angiogenesis and regulation of vascular tone. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(19809,'NCBI Gene PubMed Count',NULL,1645,NULL,NULL,NULL,13,NULL,NULL,NULL),(19810,'NCBI Gene PubMed Count',NULL,1646,NULL,NULL,NULL,11,NULL,NULL,NULL),(19811,'NCBI Gene Summary',NULL,1647,NULL,'This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been identified. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(19812,'NCBI Gene PubMed Count',NULL,1647,NULL,NULL,NULL,70,NULL,NULL,NULL),(19813,'NCBI Gene PubMed Count',NULL,1648,NULL,NULL,NULL,8,NULL,NULL,NULL),(19814,'NCBI Gene Summary',NULL,1649,NULL,'The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(19815,'NCBI Gene PubMed Count',NULL,1649,NULL,NULL,NULL,26,NULL,NULL,NULL),(19816,'NCBI Gene Summary',NULL,1650,NULL,'This gene contains sequence derived from endogenous retrovirus, and is therefore similar to multiple other loci in the genome. Transcripts at this locus encode a conserved protein with a predicted signal peptide and similarity to the Env polyprotein. This protein is overexpressed in colorectal and other cancers. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(19817,'NCBI Gene PubMed Count',NULL,1650,NULL,NULL,NULL,36,NULL,NULL,NULL),(19818,'NCBI Gene Summary',NULL,1651,NULL,'This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(19819,'NCBI Gene PubMed Count',NULL,1651,NULL,NULL,NULL,20,NULL,NULL,NULL),(19820,'NCBI Gene Summary',NULL,1652,NULL,'This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19821,'NCBI Gene PubMed Count',NULL,1652,NULL,NULL,NULL,1080,NULL,NULL,NULL),(19822,'NCBI Gene PubMed Count',NULL,1653,NULL,NULL,NULL,4,NULL,NULL,NULL),(19823,'NCBI Gene Summary',NULL,1654,NULL,'ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(19824,'NCBI Gene PubMed Count',NULL,1654,NULL,NULL,NULL,19,NULL,NULL,NULL),(19825,'NCBI Gene Summary',NULL,1655,NULL,'This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(19826,'NCBI Gene PubMed Count',NULL,1655,NULL,NULL,NULL,23,NULL,NULL,NULL),(19827,'NCBI Gene Summary',NULL,1656,NULL,'This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(19828,'NCBI Gene PubMed Count',NULL,1656,NULL,NULL,NULL,44,NULL,NULL,NULL),(19829,'NCBI Gene Summary',NULL,1657,NULL,'This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(19830,'NCBI Gene PubMed Count',NULL,1657,NULL,NULL,NULL,105,NULL,NULL,NULL),(19831,'NCBI Gene Summary',NULL,1658,NULL,'This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. The protein encoded by this gene is the major intestinal enzyme and functions in intestine drug clearance. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(19832,'NCBI Gene PubMed Count',NULL,1658,NULL,NULL,NULL,67,NULL,NULL,NULL),(19833,'NCBI Gene Summary',NULL,1659,NULL,'This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(19834,'NCBI Gene PubMed Count',NULL,1659,NULL,NULL,NULL,9,NULL,NULL,NULL),(19835,'NCBI Gene Summary',NULL,1660,NULL,'This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(19836,'NCBI Gene PubMed Count',NULL,1660,NULL,NULL,NULL,3,NULL,NULL,NULL),(19837,'NCBI Gene Summary',NULL,1661,NULL,'Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(19838,'NCBI Gene PubMed Count',NULL,1661,NULL,NULL,NULL,6,NULL,NULL,NULL),(19839,'NCBI Gene PubMed Count',NULL,1662,NULL,NULL,NULL,60,NULL,NULL,NULL),(19840,'NCBI Gene PubMed Count',NULL,1663,NULL,NULL,NULL,0,NULL,NULL,NULL),(19841,'NCBI Gene PubMed Count',NULL,1664,NULL,NULL,NULL,4,NULL,NULL,NULL),(19842,'NCBI Gene PubMed Count',NULL,1665,NULL,NULL,NULL,1,NULL,NULL,NULL),(19843,'NCBI Gene PubMed Count',NULL,1666,NULL,NULL,NULL,3,NULL,NULL,NULL),(19844,'NCBI Gene PubMed Count',NULL,1667,NULL,NULL,NULL,8,NULL,NULL,NULL),(19845,'NCBI Gene PubMed Count',NULL,1668,NULL,NULL,NULL,3,NULL,NULL,NULL),(19846,'NCBI Gene PubMed Count',NULL,1669,NULL,NULL,NULL,1,NULL,NULL,NULL),(19847,'NCBI Gene Summary',NULL,1670,NULL,'FAM90A5 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, May 2010]',NULL,NULL,NULL,NULL,NULL),(19848,'NCBI Gene PubMed Count',NULL,1670,NULL,NULL,NULL,2,NULL,NULL,NULL),(19849,'NCBI Gene Summary',NULL,1671,NULL,'FAM90A10 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19850,'NCBI Gene PubMed Count',NULL,1671,NULL,NULL,NULL,2,NULL,NULL,NULL),(19851,'NCBI Gene Summary',NULL,1672,NULL,'FAM90A12 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(19852,'NCBI Gene PubMed Count',NULL,1672,NULL,NULL,NULL,3,NULL,NULL,NULL),(19853,'NCBI Gene Summary',NULL,1673,NULL,'FAM90A13 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19854,'NCBI Gene PubMed Count',NULL,1673,NULL,NULL,NULL,3,NULL,NULL,NULL),(19855,'NCBI Gene Summary',NULL,1674,NULL,'FAM90A14 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, May 2010]',NULL,NULL,NULL,NULL,NULL),(19856,'NCBI Gene PubMed Count',NULL,1674,NULL,NULL,NULL,2,NULL,NULL,NULL),(19857,'NCBI Gene PubMed Count',NULL,1675,NULL,NULL,NULL,2,NULL,NULL,NULL),(19858,'NCBI Gene PubMed Count',NULL,1676,NULL,NULL,NULL,2,NULL,NULL,NULL),(19859,'NCBI Gene PubMed Count',NULL,1677,NULL,NULL,NULL,2,NULL,NULL,NULL),(19860,'NCBI Gene PubMed Count',NULL,1678,NULL,NULL,NULL,11,NULL,NULL,NULL),(19861,'NCBI Gene PubMed Count',NULL,1679,NULL,NULL,NULL,4,NULL,NULL,NULL),(19862,'NCBI Gene Summary',NULL,1680,NULL,'This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19863,'NCBI Gene PubMed Count',NULL,1680,NULL,NULL,NULL,191,NULL,NULL,NULL),(19864,'NCBI Gene PubMed Count',NULL,1681,NULL,NULL,NULL,7,NULL,NULL,NULL),(19865,'NCBI Gene PubMed Count',NULL,1682,NULL,NULL,NULL,12,NULL,NULL,NULL),(19866,'NCBI Gene Summary',NULL,1683,NULL,'This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(19867,'NCBI Gene PubMed Count',NULL,1683,NULL,NULL,NULL,18,NULL,NULL,NULL),(19868,'NCBI Gene PubMed Count',NULL,1684,NULL,NULL,NULL,0,NULL,NULL,NULL),(19869,'NCBI Gene Summary',NULL,1685,NULL,'The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2) and an isoform of gamma-glutamyltranspeptidase-like 3. An alternatively spliced variant encoding a protein that lacks a 32 aa internal segment showed the opposite effect, inhibiting lung cancer cell growth. Knockdown of this gene also inhibited lung carcinogenesis and tumor cell growth. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(19870,'NCBI Gene PubMed Count',NULL,1685,NULL,NULL,NULL,13,NULL,NULL,NULL),(19871,'NCBI Gene PubMed Count',NULL,1686,NULL,NULL,NULL,15,NULL,NULL,NULL),(19872,'NCBI Gene PubMed Count',NULL,1687,NULL,NULL,NULL,1,NULL,NULL,NULL),(19873,'NCBI Gene Summary',NULL,1688,NULL,'This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(19874,'NCBI Gene PubMed Count',NULL,1688,NULL,NULL,NULL,4,NULL,NULL,NULL),(19875,'NCBI Gene Summary',NULL,1689,NULL,'This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(19876,'NCBI Gene PubMed Count',NULL,1689,NULL,NULL,NULL,4,NULL,NULL,NULL),(19877,'NCBI Gene Summary',NULL,1690,NULL,'Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19878,'NCBI Gene PubMed Count',NULL,1690,NULL,NULL,NULL,56,NULL,NULL,NULL),(19879,'NCBI Gene PubMed Count',NULL,1691,NULL,NULL,NULL,6,NULL,NULL,NULL),(19880,'NCBI Gene PubMed Count',NULL,1692,NULL,NULL,NULL,2,NULL,NULL,NULL),(19881,'NCBI Gene PubMed Count',NULL,1693,NULL,NULL,NULL,12,NULL,NULL,NULL),(19882,'NCBI Gene Summary',NULL,1694,NULL,'This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere\'s disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(19883,'NCBI Gene PubMed Count',NULL,1694,NULL,NULL,NULL,17,NULL,NULL,NULL),(19884,'NCBI Gene PubMed Count',NULL,1695,NULL,NULL,NULL,7,NULL,NULL,NULL),(19885,'NCBI Gene PubMed Count',NULL,1696,NULL,NULL,NULL,12,NULL,NULL,NULL),(19886,'NCBI Gene PubMed Count',NULL,1697,NULL,NULL,NULL,6,NULL,NULL,NULL),(19887,'NCBI Gene PubMed Count',NULL,1698,NULL,NULL,NULL,6,NULL,NULL,NULL),(19888,'NCBI Gene PubMed Count',NULL,1699,NULL,NULL,NULL,7,NULL,NULL,NULL),(19889,'NCBI Gene Summary',NULL,1700,NULL,'Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19890,'NCBI Gene PubMed Count',NULL,1700,NULL,NULL,NULL,81,NULL,NULL,NULL),(19891,'NCBI Gene Summary',NULL,1701,NULL,'This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(19892,'NCBI Gene PubMed Count',NULL,1701,NULL,NULL,NULL,9,NULL,NULL,NULL),(19893,'NCBI Gene Summary',NULL,1702,NULL,'Differences in the expression level of this gene are associated with the survival rate of those with glioma. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(19894,'NCBI Gene PubMed Count',NULL,1702,NULL,NULL,NULL,7,NULL,NULL,NULL),(19895,'NCBI Gene PubMed Count',NULL,1703,NULL,NULL,NULL,3,NULL,NULL,NULL),(19896,'NCBI Gene PubMed Count',NULL,1704,NULL,NULL,NULL,20,NULL,NULL,NULL),(19897,'NCBI Gene PubMed Count',NULL,1705,NULL,NULL,NULL,1,NULL,NULL,NULL),(19898,'NCBI Gene Summary',NULL,1706,NULL,'This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(19899,'NCBI Gene PubMed Count',NULL,1706,NULL,NULL,NULL,6,NULL,NULL,NULL),(19900,'NCBI Gene Summary',NULL,1707,NULL,'Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(19901,'NCBI Gene PubMed Count',NULL,1707,NULL,NULL,NULL,11,NULL,NULL,NULL),(19902,'NCBI Gene PubMed Count',NULL,1708,NULL,NULL,NULL,1,NULL,NULL,NULL),(19903,'NCBI Gene PubMed Count',NULL,1709,NULL,NULL,NULL,3,NULL,NULL,NULL),(19904,'NCBI Gene PubMed Count',NULL,1710,NULL,NULL,NULL,3,NULL,NULL,NULL),(19905,'NCBI Gene PubMed Count',NULL,1711,NULL,NULL,NULL,4,NULL,NULL,NULL),(19906,'NCBI Gene PubMed Count',NULL,1712,NULL,NULL,NULL,5,NULL,NULL,NULL),(19907,'NCBI Gene PubMed Count',NULL,1713,NULL,NULL,NULL,1,NULL,NULL,NULL),(19908,'NCBI Gene PubMed Count',NULL,1714,NULL,NULL,NULL,2,NULL,NULL,NULL),(19909,'NCBI Gene Summary',NULL,1715,NULL,'This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(19910,'NCBI Gene PubMed Count',NULL,1715,NULL,NULL,NULL,9,NULL,NULL,NULL),(19911,'NCBI Gene PubMed Count',NULL,1716,NULL,NULL,NULL,9,NULL,NULL,NULL),(19912,'NCBI Gene Summary',NULL,1717,NULL,'This gene encodes a protein of unknown function. The protein is weakly similar to transposase-like proteins in human and mouse. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19913,'NCBI Gene PubMed Count',NULL,1717,NULL,NULL,NULL,8,NULL,NULL,NULL),(19914,'NCBI Gene PubMed Count',NULL,1718,NULL,NULL,NULL,5,NULL,NULL,NULL),(19915,'NCBI Gene PubMed Count',NULL,1719,NULL,NULL,NULL,6,NULL,NULL,NULL),(19916,'NCBI Gene Summary',NULL,1720,NULL,'This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19917,'NCBI Gene PubMed Count',NULL,1720,NULL,NULL,NULL,11,NULL,NULL,NULL),(19918,'NCBI Gene Summary',NULL,1721,NULL,'This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(19919,'NCBI Gene PubMed Count',NULL,1721,NULL,NULL,NULL,5,NULL,NULL,NULL),(19920,'NCBI Gene PubMed Count',NULL,1722,NULL,NULL,NULL,6,NULL,NULL,NULL),(19921,'NCBI Gene PubMed Count',NULL,1723,NULL,NULL,NULL,12,NULL,NULL,NULL),(19922,'NCBI Gene PubMed Count',NULL,1724,NULL,NULL,NULL,12,NULL,NULL,NULL),(19923,'NCBI Gene PubMed Count',NULL,1725,NULL,NULL,NULL,13,NULL,NULL,NULL),(19924,'NCBI Gene Summary',NULL,1726,NULL,'This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19925,'NCBI Gene PubMed Count',NULL,1726,NULL,NULL,NULL,4,NULL,NULL,NULL),(19926,'NCBI Gene Summary',NULL,1727,NULL,'FAM90A1 belongs to subfamily I of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19927,'NCBI Gene PubMed Count',NULL,1727,NULL,NULL,NULL,7,NULL,NULL,NULL),(19928,'NCBI Gene Summary',NULL,1728,NULL,'FAM90A7 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(19929,'NCBI Gene PubMed Count',NULL,1728,NULL,NULL,NULL,2,NULL,NULL,NULL),(19930,'NCBI Gene Summary',NULL,1729,NULL,'The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(19931,'NCBI Gene PubMed Count',NULL,1729,NULL,NULL,NULL,84,NULL,NULL,NULL),(19932,'NCBI Gene Summary',NULL,1730,NULL,'The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(19933,'NCBI Gene PubMed Count',NULL,1730,NULL,NULL,NULL,35,NULL,NULL,NULL),(19934,'NCBI Gene PubMed Count',NULL,1731,NULL,NULL,NULL,13,NULL,NULL,NULL),(19935,'NCBI Gene Summary',NULL,1732,NULL,'This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional factor. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(19936,'NCBI Gene PubMed Count',NULL,1732,NULL,NULL,NULL,21,NULL,NULL,NULL),(19937,'NCBI Gene Summary',NULL,1733,NULL,'This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(19938,'NCBI Gene PubMed Count',NULL,1733,NULL,NULL,NULL,14,NULL,NULL,NULL),(19939,'NCBI Gene PubMed Count',NULL,1734,NULL,NULL,NULL,7,NULL,NULL,NULL),(19940,'NCBI Gene Summary',NULL,1735,NULL,'This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(19941,'NCBI Gene PubMed Count',NULL,1735,NULL,NULL,NULL,36,NULL,NULL,NULL),(19942,'NCBI Gene Summary',NULL,1736,NULL,'The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(19943,'NCBI Gene PubMed Count',NULL,1736,NULL,NULL,NULL,11,NULL,NULL,NULL),(19944,'NCBI Gene PubMed Count',NULL,1737,NULL,NULL,NULL,4,NULL,NULL,NULL),(19945,'NCBI Gene Summary',NULL,1738,NULL,'This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(19946,'NCBI Gene PubMed Count',NULL,1738,NULL,NULL,NULL,32,NULL,NULL,NULL),(19947,'NCBI Gene PubMed Count',NULL,1739,NULL,NULL,NULL,5,NULL,NULL,NULL),(19948,'NCBI Gene PubMed Count',NULL,1740,NULL,NULL,NULL,4,NULL,NULL,NULL),(19949,'NCBI Gene Summary',NULL,1741,NULL,'This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(19950,'NCBI Gene PubMed Count',NULL,1741,NULL,NULL,NULL,14,NULL,NULL,NULL),(19951,'NCBI Gene PubMed Count',NULL,1742,NULL,NULL,NULL,4,NULL,NULL,NULL),(19952,'NCBI Gene PubMed Count',NULL,1743,NULL,NULL,NULL,6,NULL,NULL,NULL),(19953,'NCBI Gene PubMed Count',NULL,1744,NULL,NULL,NULL,4,NULL,NULL,NULL),(19954,'NCBI Gene Summary',NULL,1745,NULL,'This gene encodes a product belonging to a family of proteins with unknown function. The coding sequence of this family member includes several tandemly repeated regions. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(19955,'NCBI Gene PubMed Count',NULL,1745,NULL,NULL,NULL,2,NULL,NULL,NULL),(19956,'NCBI Gene PubMed Count',NULL,1746,NULL,NULL,NULL,0,NULL,NULL,NULL),(19957,'NCBI Gene PubMed Count',NULL,1747,NULL,NULL,NULL,11,NULL,NULL,NULL),(19958,'NCBI Gene Summary',NULL,1748,NULL,'The gene encodes a small, highly conserved cytoplasmic protein that bind long-chain fatty acids and other hydrophobic ligands. The encoded protein is important in the establishment of the radial glial fiber in the developing brain. Alternative splicing and promoter usage results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(19959,'NCBI Gene PubMed Count',NULL,1748,NULL,NULL,NULL,61,NULL,NULL,NULL),(19960,'NCBI Gene PubMed Count',NULL,1749,NULL,NULL,NULL,4,NULL,NULL,NULL),(19961,'NCBI Gene Summary',NULL,1750,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family. The protein encoded is an antimicrobial protein with antibacterial and antifungal activity. Two transcripts that encode the same protein have been identified for this gene, which is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(19962,'NCBI Gene PubMed Count',NULL,1750,NULL,NULL,NULL,29,NULL,NULL,NULL),(19963,'NCBI Gene Summary',NULL,1751,NULL,'This gene encodes a conserved protein of unknown function. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(19964,'NCBI Gene PubMed Count',NULL,1751,NULL,NULL,NULL,4,NULL,NULL,NULL),(19965,'NCBI Gene PubMed Count',NULL,1752,NULL,NULL,NULL,1,NULL,NULL,NULL),(19966,'NCBI Gene Summary',NULL,1753,NULL,'The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19967,'NCBI Gene PubMed Count',NULL,1753,NULL,NULL,NULL,233,NULL,NULL,NULL),(19968,'NCBI Gene PubMed Count',NULL,1754,NULL,NULL,NULL,3,NULL,NULL,NULL),(19969,'NCBI Gene Summary',NULL,1755,NULL,'The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19970,'NCBI Gene PubMed Count',NULL,1755,NULL,NULL,NULL,170,NULL,NULL,NULL),(19971,'NCBI Gene PubMed Count',NULL,1756,NULL,NULL,NULL,7,NULL,NULL,NULL),(19972,'NCBI Gene PubMed Count',NULL,1757,NULL,NULL,NULL,11,NULL,NULL,NULL),(19973,'NCBI Gene Summary',NULL,1758,NULL,'The protein encoded by this gene protects against death receptor-triggered apoptosis and regulates B-cell signaling and differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(19974,'NCBI Gene PubMed Count',NULL,1758,NULL,NULL,NULL,18,NULL,NULL,NULL),(19975,'NCBI Gene Summary',NULL,1759,NULL,'Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(19976,'NCBI Gene PubMed Count',NULL,1759,NULL,NULL,NULL,23,NULL,NULL,NULL),(19977,'NCBI Gene Summary',NULL,1760,NULL,'This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(19978,'NCBI Gene PubMed Count',NULL,1760,NULL,NULL,NULL,797,NULL,NULL,NULL),(19979,'NCBI Gene PubMed Count',NULL,1761,NULL,NULL,NULL,24,NULL,NULL,NULL),(19980,'NCBI Gene Summary',NULL,1762,NULL,'This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(19981,'NCBI Gene PubMed Count',NULL,1762,NULL,NULL,NULL,32,NULL,NULL,NULL),(19982,'NCBI Gene Summary',NULL,1763,NULL,'This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(19983,'NCBI Gene PubMed Count',NULL,1763,NULL,NULL,NULL,24,NULL,NULL,NULL),(19984,'NCBI Gene Summary',NULL,1764,NULL,'This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart, skeletal muscle and brown-adipose tissue. Some members of this protein family may play a role in apoptosis. The protein encoded by this gene interacts with components of the mitochondrial respiratory and translation networks. A pseudogene of this gene is also present on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(19985,'NCBI Gene PubMed Count',NULL,1764,NULL,NULL,NULL,10,NULL,NULL,NULL),(19986,'NCBI Gene Summary',NULL,1765,NULL,'The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19987,'NCBI Gene PubMed Count',NULL,1765,NULL,NULL,NULL,75,NULL,NULL,NULL),(19988,'NCBI Gene Summary',NULL,1766,NULL,'This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(19989,'NCBI Gene PubMed Count',NULL,1766,NULL,NULL,NULL,273,NULL,NULL,NULL),(19990,'NCBI Gene Summary',NULL,1767,NULL,'This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19991,'NCBI Gene PubMed Count',NULL,1767,NULL,NULL,NULL,66,NULL,NULL,NULL),(19992,'NCBI Gene Summary',NULL,1768,NULL,'Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(19993,'NCBI Gene PubMed Count',NULL,1768,NULL,NULL,NULL,9,NULL,NULL,NULL),(19994,'NCBI Gene PubMed Count',NULL,1769,NULL,NULL,NULL,4,NULL,NULL,NULL),(19995,'NCBI Gene Summary',NULL,1770,NULL,'The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(19996,'NCBI Gene PubMed Count',NULL,1770,NULL,NULL,NULL,12,NULL,NULL,NULL),(19997,'NCBI Gene Summary',NULL,1771,NULL,'This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(19998,'NCBI Gene PubMed Count',NULL,1771,NULL,NULL,NULL,14,NULL,NULL,NULL),(19999,'NCBI Gene PubMed Count',NULL,1772,NULL,NULL,NULL,4,NULL,NULL,NULL),(20000,'NCBI Gene Summary',NULL,1773,NULL,'The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20001,'NCBI Gene PubMed Count',NULL,1773,NULL,NULL,NULL,27,NULL,NULL,NULL),(20002,'NCBI Gene Summary',NULL,1774,NULL,'The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20003,'NCBI Gene PubMed Count',NULL,1774,NULL,NULL,NULL,25,NULL,NULL,NULL),(20004,'NCBI Gene Summary',NULL,1775,NULL,'The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20005,'NCBI Gene PubMed Count',NULL,1775,NULL,NULL,NULL,27,NULL,NULL,NULL),(20006,'NCBI Gene Summary',NULL,1776,NULL,'This gene encodes a non-catalytic component of the human exosome, a complex with 3\'-5\' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(20007,'NCBI Gene PubMed Count',NULL,1776,NULL,NULL,NULL,39,NULL,NULL,NULL),(20008,'NCBI Gene PubMed Count',NULL,1777,NULL,NULL,NULL,8,NULL,NULL,NULL),(20009,'NCBI Gene PubMed Count',NULL,1778,NULL,NULL,NULL,9,NULL,NULL,NULL),(20010,'NCBI Gene PubMed Count',NULL,1779,NULL,NULL,NULL,5,NULL,NULL,NULL),(20011,'NCBI Gene PubMed Count',NULL,1780,NULL,NULL,NULL,4,NULL,NULL,NULL),(20012,'NCBI Gene PubMed Count',NULL,1781,NULL,NULL,NULL,4,NULL,NULL,NULL),(20013,'NCBI Gene Summary',NULL,1782,NULL,'The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5\' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(20014,'NCBI Gene PubMed Count',NULL,1782,NULL,NULL,NULL,12,NULL,NULL,NULL),(20015,'NCBI Gene PubMed Count',NULL,1783,NULL,NULL,NULL,9,NULL,NULL,NULL),(20016,'NCBI Gene PubMed Count',NULL,1784,NULL,NULL,NULL,9,NULL,NULL,NULL),(20017,'NCBI Gene PubMed Count',NULL,1785,NULL,NULL,NULL,2,NULL,NULL,NULL),(20018,'NCBI Gene PubMed Count',NULL,1786,NULL,NULL,NULL,3,NULL,NULL,NULL),(20019,'NCBI Gene PubMed Count',NULL,1787,NULL,NULL,NULL,24,NULL,NULL,NULL),(20020,'NCBI Gene PubMed Count',NULL,1788,NULL,NULL,NULL,5,NULL,NULL,NULL),(20021,'NCBI Gene PubMed Count',NULL,1789,NULL,NULL,NULL,17,NULL,NULL,NULL),(20022,'NCBI Gene PubMed Count',NULL,1790,NULL,NULL,NULL,6,NULL,NULL,NULL),(20023,'NCBI Gene Summary',NULL,1791,NULL,'The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20024,'NCBI Gene PubMed Count',NULL,1791,NULL,NULL,NULL,20,NULL,NULL,NULL),(20025,'NCBI Gene PubMed Count',NULL,1792,NULL,NULL,NULL,3,NULL,NULL,NULL),(20026,'NCBI Gene PubMed Count',NULL,1793,NULL,NULL,NULL,6,NULL,NULL,NULL),(20027,'NCBI Gene PubMed Count',NULL,1794,NULL,NULL,NULL,5,NULL,NULL,NULL),(20028,'NCBI Gene PubMed Count',NULL,1795,NULL,NULL,NULL,3,NULL,NULL,NULL),(20029,'NCBI Gene Summary',NULL,1796,NULL,'This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(20030,'NCBI Gene PubMed Count',NULL,1796,NULL,NULL,NULL,19,NULL,NULL,NULL),(20031,'NCBI Gene PubMed Count',NULL,1797,NULL,NULL,NULL,14,NULL,NULL,NULL),(20032,'NCBI Gene PubMed Count',NULL,1798,NULL,NULL,NULL,12,NULL,NULL,NULL),(20033,'NCBI Gene PubMed Count',NULL,1799,NULL,NULL,NULL,5,NULL,NULL,NULL),(20034,'NCBI Gene Summary',NULL,1800,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3\' end. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20035,'NCBI Gene PubMed Count',NULL,1800,NULL,NULL,NULL,20,NULL,NULL,NULL),(20036,'NCBI Gene Summary',NULL,1801,NULL,'This gene encodes a member of the F-box protein family which is characterized by the F-box motif. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it contains an F-box domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(20037,'NCBI Gene PubMed Count',NULL,1801,NULL,NULL,NULL,16,NULL,NULL,NULL),(20038,'NCBI Gene Summary',NULL,1802,NULL,'This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20039,'NCBI Gene PubMed Count',NULL,1802,NULL,NULL,NULL,58,NULL,NULL,NULL),(20040,'NCBI Gene Summary',NULL,1803,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(20041,'NCBI Gene PubMed Count',NULL,1803,NULL,NULL,NULL,30,NULL,NULL,NULL),(20042,'NCBI Gene Summary',NULL,1804,NULL,'This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(20043,'NCBI Gene PubMed Count',NULL,1804,NULL,NULL,NULL,12,NULL,NULL,NULL),(20044,'NCBI Gene Summary',NULL,1805,NULL,'The protein encoded by this gene is a low affinity receptor for the Fc region of immunoglobulin gamma complexes. The encoded protein is involved in the phagocytosis of immune complexes and in the regulation of antibody production by B-cells. Variations in this gene may increase susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(20045,'NCBI Gene PubMed Count',NULL,1805,NULL,NULL,NULL,186,NULL,NULL,NULL),(20046,'NCBI Gene Summary',NULL,1806,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(20047,'NCBI Gene PubMed Count',NULL,1806,NULL,NULL,NULL,37,NULL,NULL,NULL),(20048,'NCBI Gene Summary',NULL,1807,NULL,'The protein encoded by this gene is an intracellular fatty acid-binding protein that participates in the uptake, intracellular metabolism, and transport of long-chain fatty acids. The encoded protein is also involved in the modulation of cell growth and proliferation. This protein binds saturated long-chain fatty acids with high affinity, and may act as a lipid sensor to maintain energy homeostasis. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(20049,'NCBI Gene PubMed Count',NULL,1807,NULL,NULL,NULL,190,NULL,NULL,NULL),(20050,'NCBI Gene Summary',NULL,1808,NULL,'This gene encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. This protein and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(20051,'NCBI Gene PubMed Count',NULL,1808,NULL,NULL,NULL,127,NULL,NULL,NULL),(20052,'NCBI Gene Summary',NULL,1809,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(20053,'NCBI Gene PubMed Count',NULL,1809,NULL,NULL,NULL,28,NULL,NULL,NULL),(20054,'NCBI Gene Summary',NULL,1810,NULL,'The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(20055,'NCBI Gene PubMed Count',NULL,1810,NULL,NULL,NULL,176,NULL,NULL,NULL),(20056,'NCBI Gene Summary',NULL,1811,NULL,'This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20057,'NCBI Gene PubMed Count',NULL,1811,NULL,NULL,NULL,53,NULL,NULL,NULL),(20058,'NCBI Gene Summary',NULL,1812,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is located separately from the other H3 genes that are in the histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(20059,'NCBI Gene PubMed Count',NULL,1812,NULL,NULL,NULL,139,NULL,NULL,NULL),(20060,'NCBI Gene Summary',NULL,1813,NULL,'Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20061,'NCBI Gene PubMed Count',NULL,1813,NULL,NULL,NULL,65,NULL,NULL,NULL),(20062,'NCBI Gene PubMed Count',NULL,1814,NULL,NULL,NULL,17,NULL,NULL,NULL),(20063,'NCBI Gene PubMed Count',NULL,1815,NULL,NULL,NULL,12,NULL,NULL,NULL),(20064,'NCBI Gene Summary',NULL,1816,NULL,'This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(20065,'NCBI Gene PubMed Count',NULL,1816,NULL,NULL,NULL,12,NULL,NULL,NULL),(20066,'NCBI Gene Summary',NULL,1817,NULL,'FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(20067,'NCBI Gene PubMed Count',NULL,1817,NULL,NULL,NULL,21,NULL,NULL,NULL),(20068,'NCBI Gene Summary',NULL,1818,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(20069,'NCBI Gene PubMed Count',NULL,1818,NULL,NULL,NULL,141,NULL,NULL,NULL),(20070,'NCBI Gene Summary',NULL,1819,NULL,'This gene encodes a cancer-testis antigen that is highly expressed in hepatocellular carcinomas and other tumors and weakly expressed in normal tissues except testis. The protein is strongly expressed in spermatogonia, primary spermatocytes, and Sertoli cells in seminiferous tubules. This protein may have a role in the control of early testicular differentiation and cell proliferation. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(20071,'NCBI Gene PubMed Count',NULL,1819,NULL,NULL,NULL,24,NULL,NULL,NULL),(20072,'NCBI Gene PubMed Count',NULL,1820,NULL,NULL,NULL,10,NULL,NULL,NULL),(20073,'NCBI Gene Summary',NULL,1821,NULL,'A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(20074,'NCBI Gene PubMed Count',NULL,1821,NULL,NULL,NULL,52,NULL,NULL,NULL),(20075,'NCBI Gene Summary',NULL,1822,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20076,'NCBI Gene PubMed Count',NULL,1822,NULL,NULL,NULL,9,NULL,NULL,NULL),(20077,'NCBI Gene Summary',NULL,1823,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(20078,'NCBI Gene PubMed Count',NULL,1823,NULL,NULL,NULL,52,NULL,NULL,NULL),(20079,'NCBI Gene PubMed Count',NULL,1824,NULL,NULL,NULL,10,NULL,NULL,NULL),(20080,'NCBI Gene PubMed Count',NULL,1825,NULL,NULL,NULL,10,NULL,NULL,NULL),(20081,'NCBI Gene PubMed Count',NULL,1826,NULL,NULL,NULL,1,NULL,NULL,NULL),(20082,'NCBI Gene Summary',NULL,1827,NULL,'This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20083,'NCBI Gene PubMed Count',NULL,1827,NULL,NULL,NULL,51,NULL,NULL,NULL),(20084,'NCBI Gene Summary',NULL,1828,NULL,'The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(20085,'NCBI Gene PubMed Count',NULL,1828,NULL,NULL,NULL,147,NULL,NULL,NULL),(20086,'NCBI Gene Summary',NULL,1829,NULL,'The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20087,'NCBI Gene PubMed Count',NULL,1829,NULL,NULL,NULL,33,NULL,NULL,NULL),(20088,'NCBI Gene PubMed Count',NULL,1830,NULL,NULL,NULL,14,NULL,NULL,NULL),(20089,'NCBI Gene Summary',NULL,1831,NULL,'The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(20090,'NCBI Gene PubMed Count',NULL,1831,NULL,NULL,NULL,26,NULL,NULL,NULL),(20091,'NCBI Gene Summary',NULL,1832,NULL,'The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20092,'NCBI Gene PubMed Count',NULL,1832,NULL,NULL,NULL,100,NULL,NULL,NULL),(20093,'NCBI Gene PubMed Count',NULL,1833,NULL,NULL,NULL,14,NULL,NULL,NULL),(20094,'NCBI Gene Summary',NULL,1834,NULL,'This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(20095,'NCBI Gene PubMed Count',NULL,1834,NULL,NULL,NULL,21,NULL,NULL,NULL),(20096,'NCBI Gene Summary',NULL,1835,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20097,'NCBI Gene PubMed Count',NULL,1835,NULL,NULL,NULL,15,NULL,NULL,NULL),(20098,'NCBI Gene Summary',NULL,1836,NULL,'This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(20099,'NCBI Gene PubMed Count',NULL,1836,NULL,NULL,NULL,135,NULL,NULL,NULL),(20100,'NCBI Gene PubMed Count',NULL,1837,NULL,NULL,NULL,6,NULL,NULL,NULL),(20101,'NCBI Gene Summary',NULL,1838,NULL,'The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(20102,'NCBI Gene PubMed Count',NULL,1838,NULL,NULL,NULL,104,NULL,NULL,NULL),(20103,'NCBI Gene Summary',NULL,1839,NULL,'This gene encodes one of three members of a family of low-affinity immunoglobulin gamma Fc receptors found on the surface of many immune response cells. The encoded protein is a transmembrane glycoprotein and may be involved in phagocytosis and clearing of immune complexes. An allelic polymorphism in this gene results in both coding and non-coding variants. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(20104,'NCBI Gene PubMed Count',NULL,1839,NULL,NULL,NULL,30,NULL,NULL,NULL),(20105,'NCBI Gene Summary',NULL,1840,NULL,'This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains one immunoreceptor-tyrosine activation motif and two immunoreceptor-tyrosine inhibitory motifs. This protein may be a prognostic marker for chronic lymphocytic leukemia. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(20106,'NCBI Gene PubMed Count',NULL,1840,NULL,NULL,NULL,20,NULL,NULL,NULL),(20107,'NCBI Gene Summary',NULL,1841,NULL,'This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(20108,'NCBI Gene PubMed Count',NULL,1841,NULL,NULL,NULL,19,NULL,NULL,NULL),(20109,'NCBI Gene Summary',NULL,1842,NULL,'The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20110,'NCBI Gene PubMed Count',NULL,1842,NULL,NULL,NULL,65,NULL,NULL,NULL),(20111,'NCBI Gene Summary',NULL,1843,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(20112,'NCBI Gene PubMed Count',NULL,1843,NULL,NULL,NULL,91,NULL,NULL,NULL),(20113,'NCBI Gene Summary',NULL,1844,NULL,'Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(20114,'NCBI Gene PubMed Count',NULL,1844,NULL,NULL,NULL,9,NULL,NULL,NULL),(20115,'NCBI Gene PubMed Count',NULL,1845,NULL,NULL,NULL,4,NULL,NULL,NULL),(20116,'NCBI Gene PubMed Count',NULL,1846,NULL,NULL,NULL,2,NULL,NULL,NULL),(20117,'NCBI Gene PubMed Count',NULL,1847,NULL,NULL,NULL,13,NULL,NULL,NULL),(20118,'NCBI Gene Summary',NULL,1848,NULL,'This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(20119,'NCBI Gene PubMed Count',NULL,1848,NULL,NULL,NULL,112,NULL,NULL,NULL),(20120,'NCBI Gene Summary',NULL,1849,NULL,'In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20121,'NCBI Gene PubMed Count',NULL,1849,NULL,NULL,NULL,24,NULL,NULL,NULL),(20122,'NCBI Gene Summary',NULL,1850,NULL,'This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(20123,'NCBI Gene PubMed Count',NULL,1850,NULL,NULL,NULL,216,NULL,NULL,NULL),(20124,'NCBI Gene Summary',NULL,1851,NULL,'The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(20125,'NCBI Gene PubMed Count',NULL,1851,NULL,NULL,NULL,32,NULL,NULL,NULL),(20126,'NCBI Gene Summary',NULL,1852,NULL,'Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(20127,'NCBI Gene PubMed Count',NULL,1852,NULL,NULL,NULL,18,NULL,NULL,NULL),(20128,'NCBI Gene Summary',NULL,1853,NULL,'The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5\'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Crystal structure analysis demonstrates that the functional molecule is a dimer, with the central portion containing the catalytic site. It is used as a prognostic marker for patients with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(20129,'NCBI Gene PubMed Count',NULL,1853,NULL,NULL,NULL,223,NULL,NULL,NULL),(20130,'NCBI Gene PubMed Count',NULL,1854,NULL,NULL,NULL,35,NULL,NULL,NULL),(20131,'NCBI Gene Summary',NULL,1855,NULL,'This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(20132,'NCBI Gene PubMed Count',NULL,1855,NULL,NULL,NULL,15,NULL,NULL,NULL),(20133,'NCBI Gene PubMed Count',NULL,1856,NULL,NULL,NULL,5,NULL,NULL,NULL),(20134,'NCBI Gene Summary',NULL,1857,NULL,'The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20135,'NCBI Gene PubMed Count',NULL,1857,NULL,NULL,NULL,59,NULL,NULL,NULL),(20136,'NCBI Gene PubMed Count',NULL,1858,NULL,NULL,NULL,32,NULL,NULL,NULL),(20137,'NCBI Gene Summary',NULL,1859,NULL,'The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(20138,'NCBI Gene PubMed Count',NULL,1859,NULL,NULL,NULL,47,NULL,NULL,NULL),(20139,'NCBI Gene PubMed Count',NULL,1860,NULL,NULL,NULL,6,NULL,NULL,NULL),(20140,'NCBI Gene Summary',NULL,1861,NULL,'This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(20141,'NCBI Gene PubMed Count',NULL,1861,NULL,NULL,NULL,12,NULL,NULL,NULL),(20142,'NCBI Gene Summary',NULL,1862,NULL,'Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20143,'NCBI Gene PubMed Count',NULL,1862,NULL,NULL,NULL,21,NULL,NULL,NULL),(20144,'NCBI Gene Summary',NULL,1863,NULL,'This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(20145,'NCBI Gene PubMed Count',NULL,1863,NULL,NULL,NULL,2150,NULL,NULL,NULL),(20146,'NCBI Gene Summary',NULL,1864,NULL,'This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(20147,'NCBI Gene PubMed Count',NULL,1864,NULL,NULL,NULL,378,NULL,NULL,NULL),(20148,'NCBI Gene PubMed Count',NULL,1865,NULL,NULL,NULL,1,NULL,NULL,NULL),(20149,'NCBI Gene PubMed Count',NULL,1866,NULL,NULL,NULL,1,NULL,NULL,NULL),(20150,'NCBI Gene Summary',NULL,1867,NULL,'The protein encoded by this gene is similar to bacterial chitinases but lacks chitinase activity. The encoded protein is secreted and is involved in cartilage biogenesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(20151,'NCBI Gene PubMed Count',NULL,1867,NULL,NULL,NULL,18,NULL,NULL,NULL),(20152,'NCBI Gene Summary',NULL,1868,NULL,'This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(20153,'NCBI Gene PubMed Count',NULL,1868,NULL,NULL,NULL,305,NULL,NULL,NULL),(20154,'NCBI Gene Summary',NULL,1869,NULL,'The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20155,'NCBI Gene PubMed Count',NULL,1869,NULL,NULL,NULL,30,NULL,NULL,NULL),(20156,'NCBI Gene Summary',NULL,1870,NULL,'This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) signaling pathway. Another member of the CHP subfamily, Calcineurin B homologous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a genetic phenotype associated with Parkinson\'s Disease (OMIM:606988). This gene was initially identified as a tumor-associated antigen and was previously referred to as Hepatocellular carcinoma-associated antigen 520. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(20157,'NCBI Gene PubMed Count',NULL,1870,NULL,NULL,NULL,13,NULL,NULL,NULL),(20158,'NCBI Gene PubMed Count',NULL,1871,NULL,NULL,NULL,22,NULL,NULL,NULL),(20159,'NCBI Gene Summary',NULL,1872,NULL,'This gene encodes a protein that binds to microRNA-targeting sequences of mRNAs, inhibiting microRNA-mediated repression. Reduced expression of this gene has been implicated in tongue squamous cell carcinoma. Two pseudogenes of this gene are located on the long arm of chromosome 17. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(20160,'NCBI Gene PubMed Count',NULL,1872,NULL,NULL,NULL,18,NULL,NULL,NULL),(20161,'NCBI Gene Summary',NULL,1873,NULL,'This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein 70, is thought to regulate the proper folding of other proteins. The orthologous mouse protein is membrane-associated and is targeted to the trans-golgi network. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(20162,'NCBI Gene PubMed Count',NULL,1873,NULL,NULL,NULL,11,NULL,NULL,NULL),(20163,'NCBI Gene PubMed Count',NULL,1874,NULL,NULL,NULL,3,NULL,NULL,NULL),(20164,'NCBI Gene Summary',NULL,1875,NULL,'This gene encodes a member of the DnaJ family of proteins, which act as heat shock protein 70 cochaperones. Heat shock proteins facilitate protein folding, trafficking, prevention of aggregation, and proteolytic degradation. Members of this family are characterized by a highly conserved N-terminal J domain, a glycine/phenylalanine-rich region, four CxxCxGxG zinc finger repeats, and a C-terminal substrate-binding domain. The J domain mediates the interaction with heat shock protein 70 to recruit substrates and regulate ATP hydrolysis activity. In humans, this gene has been implicated in positive regulation of virus replication through co-option by the influenza A virus. Several pseudogenes of this gene are found on other chromosomes. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(20165,'NCBI Gene PubMed Count',NULL,1875,NULL,NULL,NULL,44,NULL,NULL,NULL),(20166,'NCBI Gene Summary',NULL,1876,NULL,'The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20167,'NCBI Gene PubMed Count',NULL,1876,NULL,NULL,NULL,23,NULL,NULL,NULL),(20168,'NCBI Gene Summary',NULL,1877,NULL,'This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(20169,'NCBI Gene PubMed Count',NULL,1877,NULL,NULL,NULL,33,NULL,NULL,NULL),(20170,'NCBI Gene PubMed Count',NULL,1878,NULL,NULL,NULL,6,NULL,NULL,NULL),(20171,'NCBI Gene Summary',NULL,1879,NULL,'The protein encoded by this gene is a molecular chaperone, tumor suppressor, and member of the heat shock protein-40 family. The encoded protein binds the cell adhesion protein E-cadherin and targets it to the plasma membrane. This protein also binds incorrectly folded E-cadherin and targets it for endoplasmic reticulum-associated degradation. This gene is a strong tumor suppressor for colorectal carcinoma, and downregulation of it may serve as a good biomarker for predicting patient outcomes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(20172,'NCBI Gene PubMed Count',NULL,1879,NULL,NULL,NULL,30,NULL,NULL,NULL),(20173,'NCBI Gene Summary',NULL,1880,NULL,'This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins. The encoded protein contains an N-terminal DNAJ domain and a C-terminal substrate binding domain but lacks the cysteine-rich domain found in other DNAJ family members. In mice, a multi-protein complex containing this protein, thioredoxin 1, and histone deacetylase 4, serves as a master negative regulator of cardiac hypertrophy. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(20174,'NCBI Gene PubMed Count',NULL,1880,NULL,NULL,NULL,16,NULL,NULL,NULL),(20175,'NCBI Gene Summary',NULL,1881,NULL,'This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the \'J-domain\' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20176,'NCBI Gene PubMed Count',NULL,1881,NULL,NULL,NULL,71,NULL,NULL,NULL),(20177,'NCBI Gene Summary',NULL,1882,NULL,'The protein encoded by this intronless gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(20178,'NCBI Gene PubMed Count',NULL,1882,NULL,NULL,NULL,7,NULL,NULL,NULL),(20179,'NCBI Gene Summary',NULL,1883,NULL,'The protein encoded by this gene belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(20180,'NCBI Gene PubMed Count',NULL,1883,NULL,NULL,NULL,14,NULL,NULL,NULL),(20181,'NCBI Gene Summary',NULL,1884,NULL,'This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(20182,'NCBI Gene PubMed Count',NULL,1884,NULL,NULL,NULL,35,NULL,NULL,NULL),(20183,'NCBI Gene Summary',NULL,1885,NULL,'The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(20184,'NCBI Gene PubMed Count',NULL,1885,NULL,NULL,NULL,14,NULL,NULL,NULL),(20185,'NCBI Gene Summary',NULL,1886,NULL,'This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20186,'NCBI Gene PubMed Count',NULL,1886,NULL,NULL,NULL,26,NULL,NULL,NULL),(20187,'NCBI Gene Summary',NULL,1887,NULL,'This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(20188,'NCBI Gene PubMed Count',NULL,1887,NULL,NULL,NULL,31,NULL,NULL,NULL),(20189,'NCBI Gene PubMed Count',NULL,1888,NULL,NULL,NULL,10,NULL,NULL,NULL),(20190,'NCBI Gene Summary',NULL,1889,NULL,'This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington\'s disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(20191,'NCBI Gene PubMed Count',NULL,1889,NULL,NULL,NULL,48,NULL,NULL,NULL),(20192,'NCBI Gene Summary',NULL,1890,NULL,'This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the chaperone proteins heat shock proteins 70 and 90 in an ATP-dependent manner and may function as a co-chaperone. Pseudogenes of this gene are found on chromosomes 1 and 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(20193,'NCBI Gene PubMed Count',NULL,1890,NULL,NULL,NULL,22,NULL,NULL,NULL),(20194,'NCBI Gene PubMed Count',NULL,1891,NULL,NULL,NULL,14,NULL,NULL,NULL),(20195,'NCBI Gene PubMed Count',NULL,1892,NULL,NULL,NULL,13,NULL,NULL,NULL),(20196,'NCBI Gene Summary',NULL,1893,NULL,'The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(20197,'NCBI Gene PubMed Count',NULL,1893,NULL,NULL,NULL,9,NULL,NULL,NULL),(20198,'NCBI Gene Summary',NULL,1894,NULL,'This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(20199,'NCBI Gene PubMed Count',NULL,1894,NULL,NULL,NULL,87,NULL,NULL,NULL),(20200,'NCBI Gene Summary',NULL,1895,NULL,'This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20201,'NCBI Gene PubMed Count',NULL,1895,NULL,NULL,NULL,82,NULL,NULL,NULL),(20202,'NCBI Gene Summary',NULL,1896,NULL,'CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20203,'NCBI Gene PubMed Count',NULL,1896,NULL,NULL,NULL,30,NULL,NULL,NULL),(20204,'NCBI Gene Summary',NULL,1897,NULL,'The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20205,'NCBI Gene PubMed Count',NULL,1897,NULL,NULL,NULL,156,NULL,NULL,NULL),(20206,'NCBI Gene Summary',NULL,1898,NULL,'This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(20207,'NCBI Gene PubMed Count',NULL,1898,NULL,NULL,NULL,25,NULL,NULL,NULL),(20208,'NCBI Gene PubMed Count',NULL,1899,NULL,NULL,NULL,8,NULL,NULL,NULL),(20209,'NCBI Gene PubMed Count',NULL,1900,NULL,NULL,NULL,15,NULL,NULL,NULL),(20210,'NCBI Gene PubMed Count',NULL,1901,NULL,NULL,NULL,17,NULL,NULL,NULL),(20211,'NCBI Gene Summary',NULL,1902,NULL,'This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(20212,'NCBI Gene PubMed Count',NULL,1902,NULL,NULL,NULL,4,NULL,NULL,NULL),(20213,'NCBI Gene PubMed Count',NULL,1903,NULL,NULL,NULL,35,NULL,NULL,NULL),(20214,'NCBI Gene PubMed Count',NULL,1904,NULL,NULL,NULL,3,NULL,NULL,NULL),(20215,'NCBI Gene PubMed Count',NULL,1905,NULL,NULL,NULL,9,NULL,NULL,NULL),(20216,'NCBI Gene PubMed Count',NULL,1906,NULL,NULL,NULL,7,NULL,NULL,NULL),(20217,'NCBI Gene PubMed Count',NULL,1907,NULL,NULL,NULL,3,NULL,NULL,NULL),(20218,'NCBI Gene PubMed Count',NULL,1908,NULL,NULL,NULL,10,NULL,NULL,NULL),(20219,'NCBI Gene PubMed Count',NULL,1909,NULL,NULL,NULL,1,NULL,NULL,NULL),(20220,'NCBI Gene PubMed Count',NULL,1910,NULL,NULL,NULL,49,NULL,NULL,NULL),(20221,'NCBI Gene Summary',NULL,1911,NULL,'The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(20222,'NCBI Gene PubMed Count',NULL,1911,NULL,NULL,NULL,43,NULL,NULL,NULL),(20223,'NCBI Gene PubMed Count',NULL,1912,NULL,NULL,NULL,4,NULL,NULL,NULL),(20224,'NCBI Gene PubMed Count',NULL,1913,NULL,NULL,NULL,21,NULL,NULL,NULL),(20225,'NCBI Gene Summary',NULL,1914,NULL,'This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(20226,'NCBI Gene PubMed Count',NULL,1914,NULL,NULL,NULL,21,NULL,NULL,NULL),(20227,'NCBI Gene Summary',NULL,1915,NULL,'CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(20228,'NCBI Gene PubMed Count',NULL,1915,NULL,NULL,NULL,14,NULL,NULL,NULL),(20229,'NCBI Gene Summary',NULL,1916,NULL,'This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(20230,'NCBI Gene PubMed Count',NULL,1916,NULL,NULL,NULL,9,NULL,NULL,NULL),(20231,'NCBI Gene Summary',NULL,1917,NULL,'This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3\'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5\' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20232,'NCBI Gene PubMed Count',NULL,1917,NULL,NULL,NULL,27,NULL,NULL,NULL),(20233,'NCBI Gene Summary',NULL,1918,NULL,'This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3\' end cleavage and polyadenylation of pre-mRNAs. Specifically, this protein binds GU-rich elements within the 3\'-untranslated region of mRNAs. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20234,'NCBI Gene PubMed Count',NULL,1918,NULL,NULL,NULL,50,NULL,NULL,NULL),(20235,'NCBI Gene PubMed Count',NULL,1919,NULL,NULL,NULL,24,NULL,NULL,NULL),(20236,'NCBI Gene PubMed Count',NULL,1920,NULL,NULL,NULL,1,NULL,NULL,NULL),(20237,'NCBI Gene PubMed Count',NULL,1921,NULL,NULL,NULL,7,NULL,NULL,NULL),(20238,'NCBI Gene PubMed Count',NULL,1922,NULL,NULL,NULL,5,NULL,NULL,NULL),(20239,'NCBI Gene PubMed Count',NULL,1923,NULL,NULL,NULL,12,NULL,NULL,NULL),(20240,'NCBI Gene PubMed Count',NULL,1924,NULL,NULL,NULL,19,NULL,NULL,NULL),(20241,'NCBI Gene Summary',NULL,1925,NULL,'Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20242,'NCBI Gene PubMed Count',NULL,1925,NULL,NULL,NULL,3,NULL,NULL,NULL),(20243,'NCBI Gene PubMed Count',NULL,1926,NULL,NULL,NULL,2,NULL,NULL,NULL),(20244,'NCBI Gene PubMed Count',NULL,1927,NULL,NULL,NULL,7,NULL,NULL,NULL),(20245,'NCBI Gene PubMed Count',NULL,1928,NULL,NULL,NULL,23,NULL,NULL,NULL),(20246,'NCBI Gene PubMed Count',NULL,1929,NULL,NULL,NULL,2,NULL,NULL,NULL),(20247,'NCBI Gene Summary',NULL,1930,NULL,'This gene represents one of a cluster of several similar genes located on the q arm of chromosome X. The genes in this cluster encode members of the cancer/testis (CT) family of antigens, and are distinct from other CT antigens. These antigens are thought to be novel therapeutic targets for human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(20248,'NCBI Gene PubMed Count',NULL,1930,NULL,NULL,NULL,5,NULL,NULL,NULL),(20249,'NCBI Gene PubMed Count',NULL,1931,NULL,NULL,NULL,4,NULL,NULL,NULL),(20250,'NCBI Gene PubMed Count',NULL,1932,NULL,NULL,NULL,8,NULL,NULL,NULL),(20251,'NCBI Gene PubMed Count',NULL,1933,NULL,NULL,NULL,3,NULL,NULL,NULL),(20252,'NCBI Gene Summary',NULL,1934,NULL,'The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(20253,'NCBI Gene PubMed Count',NULL,1934,NULL,NULL,NULL,38,NULL,NULL,NULL),(20254,'NCBI Gene Summary',NULL,1935,NULL,'This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Oct 2018]',NULL,NULL,NULL,NULL,NULL),(20255,'NCBI Gene PubMed Count',NULL,1935,NULL,NULL,NULL,18,NULL,NULL,NULL),(20256,'NCBI Gene Summary',NULL,1936,NULL,'This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Oct 2018]',NULL,NULL,NULL,NULL,NULL),(20257,'NCBI Gene PubMed Count',NULL,1936,NULL,NULL,NULL,18,NULL,NULL,NULL),(20258,'NCBI Gene Summary',NULL,1937,NULL,'This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(20259,'NCBI Gene PubMed Count',NULL,1937,NULL,NULL,NULL,56,NULL,NULL,NULL),(20260,'NCBI Gene PubMed Count',NULL,1938,NULL,NULL,NULL,7,NULL,NULL,NULL),(20261,'NCBI Gene PubMed Count',NULL,1939,NULL,NULL,NULL,21,NULL,NULL,NULL),(20262,'NCBI Gene Summary',NULL,1940,NULL,'This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(20263,'NCBI Gene PubMed Count',NULL,1940,NULL,NULL,NULL,66,NULL,NULL,NULL),(20264,'NCBI Gene Summary',NULL,1941,NULL,'This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(20265,'NCBI Gene PubMed Count',NULL,1941,NULL,NULL,NULL,57,NULL,NULL,NULL),(20266,'NCBI Gene PubMed Count',NULL,1942,NULL,NULL,NULL,4,NULL,NULL,NULL),(20267,'NCBI Gene Summary',NULL,1943,NULL,'The protein encoded by this gene is a component of the PAF1 complex, which associates with RNA polymerase II and functions in transcriptional regulation and elongation. This complex also plays a role in the modification of histones. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(20268,'NCBI Gene PubMed Count',NULL,1943,NULL,NULL,NULL,32,NULL,NULL,NULL),(20269,'NCBI Gene Summary',NULL,1944,NULL,'This gene encodes a member of the serine protease family of enzymes and forms a principal precursor of the pancreatic proteolytic enzymes. The encoded preproprotein is synthesized in the acinar cells of the pancreas and secreted into the small intestine where it undergoes proteolytic activation to generate a functional enzyme. This gene is located adjacent to a related chymotrypsinogen gene. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(20270,'NCBI Gene PubMed Count',NULL,1944,NULL,NULL,NULL,16,NULL,NULL,NULL),(20271,'NCBI Gene PubMed Count',NULL,1945,NULL,NULL,NULL,8,NULL,NULL,NULL),(20272,'NCBI Gene Summary',NULL,1946,NULL,'This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(20273,'NCBI Gene PubMed Count',NULL,1946,NULL,NULL,NULL,42,NULL,NULL,NULL),(20274,'NCBI Gene Summary',NULL,1947,NULL,'This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(20275,'NCBI Gene PubMed Count',NULL,1947,NULL,NULL,NULL,9,NULL,NULL,NULL),(20276,'NCBI Gene Summary',NULL,1948,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20277,'NCBI Gene PubMed Count',NULL,1948,NULL,NULL,NULL,13,NULL,NULL,NULL),(20278,'NCBI Gene PubMed Count',NULL,1949,NULL,NULL,NULL,4,NULL,NULL,NULL),(20279,'NCBI Gene Summary',NULL,1950,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20280,'NCBI Gene PubMed Count',NULL,1950,NULL,NULL,NULL,325,NULL,NULL,NULL),(20281,'NCBI Gene Summary',NULL,1951,NULL,'This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(20282,'NCBI Gene PubMed Count',NULL,1951,NULL,NULL,NULL,20,NULL,NULL,NULL),(20283,'NCBI Gene Summary',NULL,1952,NULL,'Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(20284,'NCBI Gene PubMed Count',NULL,1952,NULL,NULL,NULL,16,NULL,NULL,NULL),(20285,'NCBI Gene Summary',NULL,1953,NULL,'The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(20286,'NCBI Gene PubMed Count',NULL,1953,NULL,NULL,NULL,49,NULL,NULL,NULL),(20287,'NCBI Gene Summary',NULL,1954,NULL,'This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(20288,'NCBI Gene PubMed Count',NULL,1954,NULL,NULL,NULL,21,NULL,NULL,NULL),(20289,'NCBI Gene Summary',NULL,1955,NULL,'This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(20290,'NCBI Gene PubMed Count',NULL,1955,NULL,NULL,NULL,42,NULL,NULL,NULL),(20291,'NCBI Gene Summary',NULL,1956,NULL,'Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20292,'NCBI Gene PubMed Count',NULL,1956,NULL,NULL,NULL,103,NULL,NULL,NULL),(20293,'NCBI Gene Summary',NULL,1957,NULL,'This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. The encoded protein is an extensively palmitoylated membrane phosphoprotein containing a PDZ domain, a Src homology 3 (SH3) motif, and a guanylate kinase domain. This gene product interacts with various cytoskeletal proteins and cell junctional proteins in different tissue and cell types, and may be involved in the regulation of cell shape, hair cell development, neural patterning of the retina, and apico-basal polarity and tumor suppression pathways in non-erythroid cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(20294,'NCBI Gene PubMed Count',NULL,1957,NULL,NULL,NULL,31,NULL,NULL,NULL),(20295,'NCBI Gene Summary',NULL,1958,NULL,'The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(20296,'NCBI Gene PubMed Count',NULL,1958,NULL,NULL,NULL,101,NULL,NULL,NULL),(20297,'NCBI Gene Summary',NULL,1959,NULL,'This gene encodes a member of the corticotropin-releasing factor family. The encoded preproprotein is proteolytically processed to generate the mature neuropeptide hormone. In response to stress, this hormone is secreted by the paraventricular nucleus (PVN) of the hypothalamus, binds to corticotropin releasing hormone receptors and stimulates the release of adrenocorticotropic hormone from the pituitary gland. Marked reduction in this protein has been observed in association with Alzheimer\'s disease. Autosomal recessive hypothalamic corticotropin deficiency has multiple and potentially fatal metabolic consequences including hypoglycemia and hepatitis. In addition to production in the hypothalamus, this protein is also synthesized in peripheral tissues, such as T lymphocytes, and is highly expressed in the placenta. In the placenta it is a marker that determines the length of gestation and the timing of parturition and delivery. A rapid increase in circulating levels of the hormone occurs at the onset of parturition, suggesting that, in addition to its metabolic functions, this protein may act as a trigger for parturition. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(20298,'NCBI Gene PubMed Count',NULL,1959,NULL,NULL,NULL,198,NULL,NULL,NULL),(20299,'NCBI Gene Summary',NULL,1960,NULL,'This gene encodes a member of an adapter protein family that binds to several tyrosine-phosphorylated proteins. The product of this gene has several SH2 and SH3 domains (src-homology domains) and is involved in several signaling pathways, recruiting cytoplasmic proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. The N-terminal SH2 domain of this protein functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation. Two alternative transcripts encoding different isoforms with distinct biological activity have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20300,'NCBI Gene PubMed Count',NULL,1960,NULL,NULL,NULL,199,NULL,NULL,NULL),(20301,'NCBI Gene PubMed Count',NULL,1961,NULL,NULL,NULL,6,NULL,NULL,NULL),(20302,'NCBI Gene PubMed Count',NULL,1962,NULL,NULL,NULL,11,NULL,NULL,NULL),(20303,'NCBI Gene Summary',NULL,1963,NULL,'This gene encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elevated cAMP or calcium, the encoded protein translocates to the nucleus and increases target gene expression. Single nucleotide polymorphisms in this gene may increase the risk of type 2 diabetes. A pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(20304,'NCBI Gene PubMed Count',NULL,1963,NULL,NULL,NULL,44,NULL,NULL,NULL),(20305,'NCBI Gene Summary',NULL,1964,NULL,'Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019]',NULL,NULL,NULL,NULL,NULL),(20306,'NCBI Gene PubMed Count',NULL,1964,NULL,NULL,NULL,293,NULL,NULL,NULL),(20307,'NCBI Gene Summary',NULL,1965,NULL,'This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(20308,'NCBI Gene PubMed Count',NULL,1965,NULL,NULL,NULL,16,NULL,NULL,NULL),(20309,'NCBI Gene PubMed Count',NULL,1966,NULL,NULL,NULL,16,NULL,NULL,NULL),(20310,'NCBI Gene PubMed Count',NULL,1967,NULL,NULL,NULL,4,NULL,NULL,NULL),(20311,'NCBI Gene PubMed Count',NULL,1968,NULL,NULL,NULL,8,NULL,NULL,NULL),(20312,'NCBI Gene Summary',NULL,1969,NULL,'The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(20313,'NCBI Gene PubMed Count',NULL,1969,NULL,NULL,NULL,184,NULL,NULL,NULL),(20314,'NCBI Gene Summary',NULL,1970,NULL,'EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(20315,'NCBI Gene PubMed Count',NULL,1970,NULL,NULL,NULL,9,NULL,NULL,NULL),(20316,'NCBI Gene Summary',NULL,1971,NULL,'This gene encodes the alpha\', or alpha 2, catalytic subunit of the protein kinase enzyme, casein kinase 2 (CK2). Casein kinase 2 is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythms. This heterotetrameric kinase includes two catalytic subunits, either alpha or alpha\', and two regulatory beta subunits. The closely related gene paralog encoding the alpha, or alpha 1 subunit (CSNK2A1, Gene ID: 1457) is found on chromosome 20. An intronic variant in this gene (alpha 2) may be associated with leukocyte telomere length in a South Asian population. A related transcribed pseudogene is found on chromosome 11. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(20317,'NCBI Gene PubMed Count',NULL,1971,NULL,NULL,NULL,177,NULL,NULL,NULL),(20318,'NCBI Gene PubMed Count',NULL,1972,NULL,NULL,NULL,21,NULL,NULL,NULL),(20319,'NCBI Gene PubMed Count',NULL,1973,NULL,NULL,NULL,7,NULL,NULL,NULL),(20320,'NCBI Gene Summary',NULL,1974,NULL,'This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(20321,'NCBI Gene PubMed Count',NULL,1974,NULL,NULL,NULL,44,NULL,NULL,NULL),(20322,'NCBI Gene PubMed Count',NULL,1975,NULL,NULL,NULL,2,NULL,NULL,NULL),(20323,'NCBI Gene Summary',NULL,1976,NULL,'This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20324,'NCBI Gene PubMed Count',NULL,1976,NULL,NULL,NULL,19,NULL,NULL,NULL),(20325,'NCBI Gene Summary',NULL,1977,NULL,'The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(20326,'NCBI Gene PubMed Count',NULL,1977,NULL,NULL,NULL,7,NULL,NULL,NULL),(20327,'NCBI Gene Summary',NULL,1978,NULL,'This gene encodes a glycoprotein involved in the regulation of the complement cascade. Binding of the encoded protein to complement proteins accelerates their decay, thereby disrupting the cascade and preventing damage to host cells. Antigens present on this protein constitute the Cromer blood group system (CROM). Alternative splicing results in multiple transcript variants. The predominant transcript variant encodes a membrane-bound protein, but alternatively spliced transcripts may produce soluble proteins. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(20328,'NCBI Gene PubMed Count',NULL,1978,NULL,NULL,NULL,207,NULL,NULL,NULL),(20329,'NCBI Gene PubMed Count',NULL,1979,NULL,NULL,NULL,4,NULL,NULL,NULL),(20330,'NCBI Gene PubMed Count',NULL,1980,NULL,NULL,NULL,3,NULL,NULL,NULL),(20331,'NCBI Gene PubMed Count',NULL,1981,NULL,NULL,NULL,1,NULL,NULL,NULL),(20332,'NCBI Gene PubMed Count',NULL,1982,NULL,NULL,NULL,5,NULL,NULL,NULL),(20333,'NCBI Gene Summary',NULL,1983,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20334,'NCBI Gene PubMed Count',NULL,1983,NULL,NULL,NULL,17,NULL,NULL,NULL),(20335,'NCBI Gene Summary',NULL,1984,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20336,'NCBI Gene PubMed Count',NULL,1984,NULL,NULL,NULL,54,NULL,NULL,NULL),(20337,'NCBI Gene Summary',NULL,1985,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(20338,'NCBI Gene PubMed Count',NULL,1985,NULL,NULL,NULL,31,NULL,NULL,NULL),(20339,'NCBI Gene Summary',NULL,1986,NULL,'This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3\'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3\'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(20340,'NCBI Gene PubMed Count',NULL,1986,NULL,NULL,NULL,26,NULL,NULL,NULL),(20341,'NCBI Gene PubMed Count',NULL,1987,NULL,NULL,NULL,9,NULL,NULL,NULL),(20342,'NCBI Gene Summary',NULL,1988,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(20343,'NCBI Gene PubMed Count',NULL,1988,NULL,NULL,NULL,37,NULL,NULL,NULL),(20344,'NCBI Gene PubMed Count',NULL,1989,NULL,NULL,NULL,9,NULL,NULL,NULL),(20345,'NCBI Gene Summary',NULL,1990,NULL,'This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(20346,'NCBI Gene PubMed Count',NULL,1990,NULL,NULL,NULL,24,NULL,NULL,NULL),(20347,'NCBI Gene PubMed Count',NULL,1991,NULL,NULL,NULL,14,NULL,NULL,NULL),(20348,'NCBI Gene Summary',NULL,1992,NULL,'This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(20349,'NCBI Gene PubMed Count',NULL,1992,NULL,NULL,NULL,11,NULL,NULL,NULL),(20350,'NCBI Gene Summary',NULL,1993,NULL,'This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20351,'NCBI Gene PubMed Count',NULL,1993,NULL,NULL,NULL,111,NULL,NULL,NULL),(20352,'NCBI Gene Summary',NULL,1994,NULL,'This gene encodes a member of the crystallin family of proteins that are localized to the refractive structure of vertebrate eye lenses. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(20353,'NCBI Gene PubMed Count',NULL,1994,NULL,NULL,NULL,7,NULL,NULL,NULL),(20354,'NCBI Gene PubMed Count',NULL,1995,NULL,NULL,NULL,15,NULL,NULL,NULL),(20355,'NCBI Gene PubMed Count',NULL,1996,NULL,NULL,NULL,9,NULL,NULL,NULL),(20356,'NCBI Gene Summary',NULL,1997,NULL,'This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(20357,'NCBI Gene PubMed Count',NULL,1997,NULL,NULL,NULL,80,NULL,NULL,NULL),(20358,'NCBI Gene PubMed Count',NULL,1998,NULL,NULL,NULL,5,NULL,NULL,NULL),(20359,'NCBI Gene PubMed Count',NULL,1999,NULL,NULL,NULL,5,NULL,NULL,NULL),(20360,'NCBI Gene Summary',NULL,2000,NULL,'The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(20361,'NCBI Gene PubMed Count',NULL,2000,NULL,NULL,NULL,6,NULL,NULL,NULL),(20362,'NCBI Gene Summary',NULL,2001,NULL,'The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence \'AGAGTG\', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(20363,'NCBI Gene PubMed Count',NULL,2001,NULL,NULL,NULL,11,NULL,NULL,NULL),(20364,'NCBI Gene PubMed Count',NULL,2002,NULL,NULL,NULL,9,NULL,NULL,NULL),(20365,'NCBI Gene Summary',NULL,2003,NULL,'This gene encodes a member of the cysteine-rich protein (CSRP) family. This gene family includes a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this gene product occurs in proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(20366,'NCBI Gene PubMed Count',NULL,2003,NULL,NULL,NULL,28,NULL,NULL,NULL),(20367,'NCBI Gene Summary',NULL,2004,NULL,'CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(20368,'NCBI Gene PubMed Count',NULL,2004,NULL,NULL,NULL,14,NULL,NULL,NULL),(20369,'NCBI Gene Summary',NULL,2005,NULL,'This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5\' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20370,'NCBI Gene PubMed Count',NULL,2005,NULL,NULL,NULL,39,NULL,NULL,NULL),(20371,'NCBI Gene PubMed Count',NULL,2006,NULL,NULL,NULL,11,NULL,NULL,NULL),(20372,'NCBI Gene Summary',NULL,2007,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20373,'NCBI Gene PubMed Count',NULL,2007,NULL,NULL,NULL,9,NULL,NULL,NULL),(20374,'NCBI Gene Summary',NULL,2008,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes an epididymal-specific protein shown to have antimicrobial activity against E. coli. Alternative splicing yields two variants encoding distinct isoforms. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(20375,'NCBI Gene PubMed Count',NULL,2008,NULL,NULL,NULL,11,NULL,NULL,NULL),(20376,'NCBI Gene PubMed Count',NULL,2009,NULL,NULL,NULL,25,NULL,NULL,NULL),(20377,'NCBI Gene Summary',NULL,2010,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(20378,'NCBI Gene PubMed Count',NULL,2010,NULL,NULL,NULL,14,NULL,NULL,NULL),(20379,'NCBI Gene PubMed Count',NULL,2011,NULL,NULL,NULL,3,NULL,NULL,NULL),(20380,'NCBI Gene PubMed Count',NULL,2012,NULL,NULL,NULL,6,NULL,NULL,NULL),(20381,'NCBI Gene PubMed Count',NULL,2013,NULL,NULL,NULL,4,NULL,NULL,NULL),(20382,'NCBI Gene Summary',NULL,2014,NULL,'This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(20383,'NCBI Gene PubMed Count',NULL,2014,NULL,NULL,NULL,11,NULL,NULL,NULL),(20384,'NCBI Gene PubMed Count',NULL,2015,NULL,NULL,NULL,2,NULL,NULL,NULL),(20385,'NCBI Gene PubMed Count',NULL,2016,NULL,NULL,NULL,8,NULL,NULL,NULL),(20386,'NCBI Gene PubMed Count',NULL,2017,NULL,NULL,NULL,9,NULL,NULL,NULL),(20387,'NCBI Gene PubMed Count',NULL,2018,NULL,NULL,NULL,2,NULL,NULL,NULL),(20388,'NCBI Gene Summary',NULL,2019,NULL,'This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20389,'NCBI Gene PubMed Count',NULL,2019,NULL,NULL,NULL,145,NULL,NULL,NULL),(20390,'NCBI Gene Summary',NULL,2020,NULL,'This gene encodes an autoimmunogenic tumor antigen that belongs to the ESO/LAGE family of cancer-testis antigens. This protein is expressed in a wide array of cancers including melanoma, breast cancer, bladder cancer and prostate cancer. This protein is also expressed in normal testis tissue. An alternative open reading frame product of this gene has been described in PMID:10399963. This alternate protein, termed CAMEL, is a tumor antigen that is recognized by melanoma-specific cytotoxic T-lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(20391,'NCBI Gene PubMed Count',NULL,2020,NULL,NULL,NULL,28,NULL,NULL,NULL),(20392,'NCBI Gene Summary',NULL,2021,NULL,'CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(20393,'NCBI Gene PubMed Count',NULL,2021,NULL,NULL,NULL,65,NULL,NULL,NULL),(20394,'NCBI Gene Summary',NULL,2022,NULL,'The protein encoded by this gene is an antigen that is overexpressed in many cancers but that is also expressed in normal testis. This gene is found in a duplicated region of the X-chromosome and therefore has a neighboring gene of identical sequence. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(20395,'NCBI Gene PubMed Count',NULL,2022,NULL,NULL,NULL,100,NULL,NULL,NULL),(20396,'NCBI Gene Summary',NULL,2023,NULL,'This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species (TANGO1-like or TALI). Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(20397,'NCBI Gene PubMed Count',NULL,2023,NULL,NULL,NULL,40,NULL,NULL,NULL),(20398,'NCBI Gene PubMed Count',NULL,2024,NULL,NULL,NULL,9,NULL,NULL,NULL),(20399,'NCBI Gene PubMed Count',NULL,2025,NULL,NULL,NULL,1,NULL,NULL,NULL),(20400,'NCBI Gene Summary',NULL,2026,NULL,'This gene, CYP4F8, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20401,'NCBI Gene PubMed Count',NULL,2026,NULL,NULL,NULL,14,NULL,NULL,NULL),(20402,'NCBI Gene Summary',NULL,2027,NULL,'The protein encoded by this gene is one subunit of a cleavage factor required for 3\' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3\' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20403,'NCBI Gene PubMed Count',NULL,2027,NULL,NULL,NULL,47,NULL,NULL,NULL),(20404,'NCBI Gene Summary',NULL,2028,NULL,'This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(20405,'NCBI Gene PubMed Count',NULL,2028,NULL,NULL,NULL,10,NULL,NULL,NULL),(20406,'NCBI Gene PubMed Count',NULL,2029,NULL,NULL,NULL,9,NULL,NULL,NULL),(20407,'NCBI Gene PubMed Count',NULL,2030,NULL,NULL,NULL,4,NULL,NULL,NULL),(20408,'NCBI Gene PubMed Count',NULL,2031,NULL,NULL,NULL,0,NULL,NULL,NULL),(20409,'NCBI Gene PubMed Count',NULL,2032,NULL,NULL,NULL,1,NULL,NULL,NULL),(20410,'NCBI Gene Summary',NULL,2033,NULL,'This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(20411,'NCBI Gene PubMed Count',NULL,2033,NULL,NULL,NULL,12,NULL,NULL,NULL),(20412,'NCBI Gene Summary',NULL,2034,NULL,'This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(20413,'NCBI Gene PubMed Count',NULL,2034,NULL,NULL,NULL,32,NULL,NULL,NULL),(20414,'NCBI Gene PubMed Count',NULL,2035,NULL,NULL,NULL,51,NULL,NULL,NULL),(20415,'NCBI Gene Summary',NULL,2036,NULL,'A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20416,'NCBI Gene PubMed Count',NULL,2036,NULL,NULL,NULL,87,NULL,NULL,NULL),(20417,'NCBI Gene Summary',NULL,2037,NULL,'This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(20418,'NCBI Gene PubMed Count',NULL,2037,NULL,NULL,NULL,17,NULL,NULL,NULL),(20419,'NCBI Gene Summary',NULL,2038,NULL,'The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3\' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20420,'NCBI Gene PubMed Count',NULL,2038,NULL,NULL,NULL,22,NULL,NULL,NULL),(20421,'NCBI Gene Summary',NULL,2039,NULL,'This gene encodes a protein with protease activity and is expressed in the placenta. The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants have been found for this protein. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(20422,'NCBI Gene PubMed Count',NULL,2039,NULL,NULL,NULL,11,NULL,NULL,NULL),(20423,'NCBI Gene PubMed Count',NULL,2040,NULL,NULL,NULL,4,NULL,NULL,NULL),(20424,'NCBI Gene Summary',NULL,2041,NULL,'The protein encoded by this gene is thought to be a human-specific protein. Currently available evidence suggests that orthologous regions in other organisms contain sequence differences that would not support production of a protein product. Genome-wide association studies have suggested the possibility that a SNP in the 3\' UTR, rs17123507, could be associated with nicotine addiction. Expression of this gene may be elevated in some individuals with Alzheimer\'s disease. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(20425,'NCBI Gene PubMed Count',NULL,2041,NULL,NULL,NULL,10,NULL,NULL,NULL),(20426,'NCBI Gene PubMed Count',NULL,2042,NULL,NULL,NULL,3,NULL,NULL,NULL),(20427,'NCBI Gene Summary',NULL,2043,NULL,'This gene represents one of a cluster of several similar genes located on the q arm of chromosome X. The genes in this cluster encode members of the cancer/testis (CT) family of antigens, and are distinct from other CT antigens. These antigens are thought to be novel therapeutic targets for human cancers. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(20428,'NCBI Gene PubMed Count',NULL,2043,NULL,NULL,NULL,4,NULL,NULL,NULL),(20429,'NCBI Gene PubMed Count',NULL,2044,NULL,NULL,NULL,6,NULL,NULL,NULL),(20430,'NCBI Gene PubMed Count',NULL,2045,NULL,NULL,NULL,1,NULL,NULL,NULL),(20431,'NCBI Gene PubMed Count',NULL,2046,NULL,NULL,NULL,1,NULL,NULL,NULL),(20432,'NCBI Gene PubMed Count',NULL,2047,NULL,NULL,NULL,3,NULL,NULL,NULL),(20433,'NCBI Gene Summary',NULL,2048,NULL,'This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3\' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(20434,'NCBI Gene PubMed Count',NULL,2048,NULL,NULL,NULL,96,NULL,NULL,NULL),(20435,'NCBI Gene Summary',NULL,2049,NULL,'This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(20436,'NCBI Gene PubMed Count',NULL,2049,NULL,NULL,NULL,32,NULL,NULL,NULL),(20437,'NCBI Gene Summary',NULL,2050,NULL,'This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms\' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(20438,'NCBI Gene PubMed Count',NULL,2050,NULL,NULL,NULL,237,NULL,NULL,NULL),(20439,'NCBI Gene Summary',NULL,2051,NULL,'This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(20440,'NCBI Gene PubMed Count',NULL,2051,NULL,NULL,NULL,38,NULL,NULL,NULL),(20441,'NCBI Gene Summary',NULL,2052,NULL,'This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(20442,'NCBI Gene PubMed Count',NULL,2052,NULL,NULL,NULL,25,NULL,NULL,NULL),(20443,'NCBI Gene PubMed Count',NULL,2053,NULL,NULL,NULL,17,NULL,NULL,NULL),(20444,'NCBI Gene Summary',NULL,2054,NULL,'This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20445,'NCBI Gene PubMed Count',NULL,2054,NULL,NULL,NULL,1074,NULL,NULL,NULL),(20446,'NCBI Gene Summary',NULL,2055,NULL,'The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(20447,'NCBI Gene PubMed Count',NULL,2055,NULL,NULL,NULL,48,NULL,NULL,NULL),(20448,'NCBI Gene PubMed Count',NULL,2056,NULL,NULL,NULL,38,NULL,NULL,NULL),(20449,'NCBI Gene PubMed Count',NULL,2057,NULL,NULL,NULL,3,NULL,NULL,NULL),(20450,'NCBI Gene Summary',NULL,2058,NULL,'The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(20451,'NCBI Gene PubMed Count',NULL,2058,NULL,NULL,NULL,2186,NULL,NULL,NULL),(20452,'NCBI Gene Summary',NULL,2059,NULL,'The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(20453,'NCBI Gene PubMed Count',NULL,2059,NULL,NULL,NULL,51,NULL,NULL,NULL),(20454,'NCBI Gene PubMed Count',NULL,2060,NULL,NULL,NULL,57,NULL,NULL,NULL),(20455,'NCBI Gene PubMed Count',NULL,2061,NULL,NULL,NULL,3,NULL,NULL,NULL),(20456,'NCBI Gene PubMed Count',NULL,2062,NULL,NULL,NULL,0,NULL,NULL,NULL),(20457,'NCBI Gene Summary',NULL,2063,NULL,'Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(20458,'NCBI Gene PubMed Count',NULL,2063,NULL,NULL,NULL,24,NULL,NULL,NULL),(20459,'NCBI Gene Summary',NULL,2064,NULL,'This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20460,'NCBI Gene PubMed Count',NULL,2064,NULL,NULL,NULL,51,NULL,NULL,NULL),(20461,'NCBI Gene Summary',NULL,2065,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(20462,'NCBI Gene PubMed Count',NULL,2065,NULL,NULL,NULL,8,NULL,NULL,NULL),(20463,'NCBI Gene PubMed Count',NULL,2066,NULL,NULL,NULL,8,NULL,NULL,NULL),(20464,'NCBI Gene Summary',NULL,2067,NULL,'This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(20465,'NCBI Gene PubMed Count',NULL,2067,NULL,NULL,NULL,40,NULL,NULL,NULL),(20466,'NCBI Gene Summary',NULL,2068,NULL,'The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(20467,'NCBI Gene PubMed Count',NULL,2068,NULL,NULL,NULL,38,NULL,NULL,NULL),(20468,'NCBI Gene Summary',NULL,2069,NULL,'The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with ARF1, ARF3, and ARF6 and is 83% homologous to CYTH1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(20469,'NCBI Gene PubMed Count',NULL,2069,NULL,NULL,NULL,59,NULL,NULL,NULL),(20470,'NCBI Gene PubMed Count',NULL,2070,NULL,NULL,NULL,8,NULL,NULL,NULL),(20471,'NCBI Gene PubMed Count',NULL,2071,NULL,NULL,NULL,13,NULL,NULL,NULL),(20472,'NCBI Gene PubMed Count',NULL,2072,NULL,NULL,NULL,7,NULL,NULL,NULL),(20473,'NCBI Gene PubMed Count',NULL,2073,NULL,NULL,NULL,16,NULL,NULL,NULL),(20474,'NCBI Gene PubMed Count',NULL,2074,NULL,NULL,NULL,3,NULL,NULL,NULL),(20475,'NCBI Gene Summary',NULL,2075,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20476,'NCBI Gene PubMed Count',NULL,2075,NULL,NULL,NULL,21,NULL,NULL,NULL),(20477,'NCBI Gene Summary',NULL,2076,NULL,'The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(20478,'NCBI Gene PubMed Count',NULL,2076,NULL,NULL,NULL,21,NULL,NULL,NULL),(20479,'NCBI Gene PubMed Count',NULL,2077,NULL,NULL,NULL,5,NULL,NULL,NULL),(20480,'NCBI Gene Summary',NULL,2078,NULL,'Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. A pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(20481,'NCBI Gene PubMed Count',NULL,2078,NULL,NULL,NULL,4,NULL,NULL,NULL),(20482,'NCBI Gene Summary',NULL,2079,NULL,'This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20483,'NCBI Gene PubMed Count',NULL,2079,NULL,NULL,NULL,21,NULL,NULL,NULL),(20484,'NCBI Gene Summary',NULL,2080,NULL,'This gene produces a long non-coding RNA that functions as a negative regulator of cell differentiation. This transcript associates with enhancer of zeste homolog 2 to repress expression of the runt related transcription factor 2 gene. Increased expression of this transcript may be associated with cancer. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(20485,'NCBI Gene PubMed Count',NULL,2080,NULL,NULL,NULL,41,NULL,NULL,NULL),(20486,'NCBI Gene Summary',NULL,2081,NULL,'This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(20487,'NCBI Gene PubMed Count',NULL,2081,NULL,NULL,NULL,19,NULL,NULL,NULL),(20488,'NCBI Gene PubMed Count',NULL,2082,NULL,NULL,NULL,4,NULL,NULL,NULL),(20489,'NCBI Gene Summary',NULL,2083,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate the formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 1. However, the CDS of this intronless gene remains intact, it is conserved in other primate species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(20490,'NCBI Gene PubMed Count',NULL,2083,NULL,NULL,NULL,2,NULL,NULL,NULL),(20491,'NCBI Gene Summary',NULL,2084,NULL,'This gene encodes a subunit of dynactin, a component of the cytoplasmic dynein motor machinery involved in minus-end-directed transport. The encoded protein is a component of the pointed-end subcomplex and is thought to bind membranous cargo. A pseudogene of this gene is located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(20492,'NCBI Gene PubMed Count',NULL,2084,NULL,NULL,NULL,11,NULL,NULL,NULL),(20493,'NCBI Gene Summary',NULL,2085,NULL,'This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5\'-3\' exonuclease activity; it also exhibits endonuclease activity on 5\' and 3\' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(20494,'NCBI Gene PubMed Count',NULL,2085,NULL,NULL,NULL,84,NULL,NULL,NULL),(20495,'NCBI Gene PubMed Count',NULL,2086,NULL,NULL,NULL,15,NULL,NULL,NULL),(20496,'NCBI Gene Summary',NULL,2087,NULL,'This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(20497,'NCBI Gene PubMed Count',NULL,2087,NULL,NULL,NULL,439,NULL,NULL,NULL),(20498,'NCBI Gene Summary',NULL,2088,NULL,'The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(20499,'NCBI Gene PubMed Count',NULL,2088,NULL,NULL,NULL,231,NULL,NULL,NULL),(20500,'NCBI Gene PubMed Count',NULL,2089,NULL,NULL,NULL,11,NULL,NULL,NULL),(20501,'NCBI Gene Summary',NULL,2090,NULL,'The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(20502,'NCBI Gene PubMed Count',NULL,2090,NULL,NULL,NULL,24,NULL,NULL,NULL),(20503,'NCBI Gene Summary',NULL,2091,NULL,'Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(20504,'NCBI Gene PubMed Count',NULL,2091,NULL,NULL,NULL,10,NULL,NULL,NULL),(20505,'NCBI Gene Summary',NULL,2092,NULL,'This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(20506,'NCBI Gene PubMed Count',NULL,2092,NULL,NULL,NULL,14,NULL,NULL,NULL),(20507,'NCBI Gene Summary',NULL,2093,NULL,'DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line.  The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis.  DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20508,'NCBI Gene PubMed Count',NULL,2093,NULL,NULL,NULL,25,NULL,NULL,NULL),(20509,'NCBI Gene Summary',NULL,2095,NULL,'This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(20510,'NCBI Gene PubMed Count',NULL,2095,NULL,NULL,NULL,6,NULL,NULL,NULL),(20511,'NCBI Gene Summary',NULL,2096,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20512,'NCBI Gene PubMed Count',NULL,2096,NULL,NULL,NULL,37,NULL,NULL,NULL),(20513,'NCBI Gene Summary',NULL,2097,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20514,'NCBI Gene PubMed Count',NULL,2097,NULL,NULL,NULL,26,NULL,NULL,NULL),(20515,'NCBI Gene PubMed Count',NULL,2098,NULL,NULL,NULL,6,NULL,NULL,NULL),(20516,'NCBI Gene PubMed Count',NULL,2099,NULL,NULL,NULL,10,NULL,NULL,NULL),(20517,'NCBI Gene Summary',NULL,2100,NULL,'The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(20518,'NCBI Gene PubMed Count',NULL,2100,NULL,NULL,NULL,14,NULL,NULL,NULL),(20519,'NCBI Gene Summary',NULL,2101,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(20520,'NCBI Gene PubMed Count',NULL,2101,NULL,NULL,NULL,3,NULL,NULL,NULL),(20521,'NCBI Gene Summary',NULL,2102,NULL,'DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]',NULL,NULL,NULL,NULL,NULL),(20522,'NCBI Gene PubMed Count',NULL,2102,NULL,NULL,NULL,87,NULL,NULL,NULL),(20523,'NCBI Gene Summary',NULL,2103,NULL,'Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells.  These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20524,'NCBI Gene PubMed Count',NULL,2103,NULL,NULL,NULL,45,NULL,NULL,NULL),(20525,'NCBI Gene PubMed Count',NULL,2104,NULL,NULL,NULL,17,NULL,NULL,NULL),(20526,'NCBI Gene PubMed Count',NULL,2105,NULL,NULL,NULL,41,NULL,NULL,NULL),(20527,'NCBI Gene Summary',NULL,2106,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(20528,'NCBI Gene PubMed Count',NULL,2106,NULL,NULL,NULL,2,NULL,NULL,NULL),(20529,'NCBI Gene PubMed Count',NULL,2107,NULL,NULL,NULL,10,NULL,NULL,NULL),(20530,'NCBI Gene PubMed Count',NULL,2108,NULL,NULL,NULL,4,NULL,NULL,NULL),(20531,'NCBI Gene Summary',NULL,2109,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 9. However, the CDS of this intronless gene remains intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(20532,'NCBI Gene PubMed Count',NULL,2109,NULL,NULL,NULL,3,NULL,NULL,NULL),(20533,'NCBI Gene PubMed Count',NULL,2110,NULL,NULL,NULL,34,NULL,NULL,NULL),(20534,'NCBI Gene Summary',NULL,2111,NULL,'The protein encoded by this gene belongs to light intermediate subunit family, whose members are components of the multiprotein cytoplasmic dynein complex, which is involved in intracellular trafficking and chromosome segregation during mitosis. The protein plays a role in moving the spindle assembly checkpoint (SAC) from kinetochores to spindle poles. The protein may also mediate binding to other cargo molecules to facilitate intracellular vesicle trafficking. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(20535,'NCBI Gene PubMed Count',NULL,2111,NULL,NULL,NULL,26,NULL,NULL,NULL),(20536,'NCBI Gene Summary',NULL,2112,NULL,'This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(20537,'NCBI Gene PubMed Count',NULL,2112,NULL,NULL,NULL,20,NULL,NULL,NULL),(20538,'NCBI Gene Summary',NULL,2113,NULL,'The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20539,'NCBI Gene PubMed Count',NULL,2113,NULL,NULL,NULL,24,NULL,NULL,NULL),(20540,'NCBI Gene Summary',NULL,2114,NULL,'Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20541,'NCBI Gene PubMed Count',NULL,2114,NULL,NULL,NULL,24,NULL,NULL,NULL),(20542,'NCBI Gene Summary',NULL,2115,NULL,'This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(20543,'NCBI Gene PubMed Count',NULL,2115,NULL,NULL,NULL,44,NULL,NULL,NULL),(20544,'NCBI Gene Summary',NULL,2116,NULL,'Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(20545,'NCBI Gene PubMed Count',NULL,2116,NULL,NULL,NULL,25,NULL,NULL,NULL),(20546,'NCBI Gene Summary',NULL,2117,NULL,'This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3\' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3\' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(20547,'NCBI Gene PubMed Count',NULL,2117,NULL,NULL,NULL,44,NULL,NULL,NULL),(20548,'NCBI Gene PubMed Count',NULL,2118,NULL,NULL,NULL,0,NULL,NULL,NULL),(20549,'NCBI Gene Summary',NULL,2119,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20550,'NCBI Gene PubMed Count',NULL,2119,NULL,NULL,NULL,22,NULL,NULL,NULL),(20551,'NCBI Gene PubMed Count',NULL,2120,NULL,NULL,NULL,3,NULL,NULL,NULL),(20552,'NCBI Gene Summary',NULL,2121,NULL,'This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(20553,'NCBI Gene PubMed Count',NULL,2121,NULL,NULL,NULL,19,NULL,NULL,NULL),(20554,'NCBI Gene Summary',NULL,2122,NULL,'This gene encodes a member of the PSCD family of proteins, which have an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(20555,'NCBI Gene PubMed Count',NULL,2122,NULL,NULL,NULL,16,NULL,NULL,NULL),(20556,'NCBI Gene PubMed Count',NULL,2123,NULL,NULL,NULL,8,NULL,NULL,NULL),(20557,'NCBI Gene Summary',NULL,2124,NULL,'This gene encodes a sperm head cytoskeletal protein. The encoded protein is associated with the calyx of spermatozoa and spermatids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(20558,'NCBI Gene PubMed Count',NULL,2124,NULL,NULL,NULL,9,NULL,NULL,NULL),(20559,'NCBI Gene Summary',NULL,2125,NULL,'Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads.  Cylicin II may play a role in the morphogenesis of the sperm head. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20560,'NCBI Gene PubMed Count',NULL,2125,NULL,NULL,NULL,10,NULL,NULL,NULL),(20561,'NCBI Gene Summary',NULL,2126,NULL,'This gene encodes a protein that regulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE regulatory complex (WRC), which promotes actin polymerization.This protein also interacts with the Fragile X mental retardation protein (FMRP) and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion including this gene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this gene has been observed in various human cancers and the encoded protein may inhibit tumor invasion. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(20562,'NCBI Gene PubMed Count',NULL,2126,NULL,NULL,NULL,48,NULL,NULL,NULL),(20563,'NCBI Gene PubMed Count',NULL,2127,NULL,NULL,NULL,7,NULL,NULL,NULL),(20564,'NCBI Gene Summary',NULL,2128,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20565,'NCBI Gene PubMed Count',NULL,2128,NULL,NULL,NULL,71,NULL,NULL,NULL),(20566,'NCBI Gene PubMed Count',NULL,2129,NULL,NULL,NULL,3,NULL,NULL,NULL),(20567,'NCBI Gene Summary',NULL,2130,NULL,'The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(20568,'NCBI Gene PubMed Count',NULL,2130,NULL,NULL,NULL,71,NULL,NULL,NULL),(20569,'NCBI Gene Summary',NULL,2131,NULL,'Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(20570,'NCBI Gene PubMed Count',NULL,2131,NULL,NULL,NULL,3,NULL,NULL,NULL),(20571,'NCBI Gene Summary',NULL,2132,NULL,'This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(20572,'NCBI Gene PubMed Count',NULL,2132,NULL,NULL,NULL,87,NULL,NULL,NULL),(20573,'NCBI Gene Summary',NULL,2133,NULL,'The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20574,'NCBI Gene PubMed Count',NULL,2133,NULL,NULL,NULL,5,NULL,NULL,NULL),(20575,'NCBI Gene Summary',NULL,2134,NULL,'The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(20576,'NCBI Gene PubMed Count',NULL,2134,NULL,NULL,NULL,10,NULL,NULL,NULL),(20577,'NCBI Gene Summary',NULL,2135,NULL,' Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide.  They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid.  They show extensive diversity in tissue distribution and in their subcellular localization.  CA VA is localized in the mitochondria and expressed primarily in the liver.  It may play an important role in ureagenesis and gluconeogenesis.  CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20578,'NCBI Gene PubMed Count',NULL,2135,NULL,NULL,NULL,10,NULL,NULL,NULL),(20579,'NCBI Gene Summary',NULL,2136,NULL,'Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20580,'NCBI Gene PubMed Count',NULL,2136,NULL,NULL,NULL,14,NULL,NULL,NULL),(20581,'NCBI Gene Summary',NULL,2137,NULL,'This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20582,'NCBI Gene PubMed Count',NULL,2137,NULL,NULL,NULL,9,NULL,NULL,NULL),(20583,'NCBI Gene PubMed Count',NULL,2138,NULL,NULL,NULL,17,NULL,NULL,NULL),(20584,'NCBI Gene Summary',NULL,2139,NULL,'This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(20585,'NCBI Gene PubMed Count',NULL,2139,NULL,NULL,NULL,48,NULL,NULL,NULL),(20586,'NCBI Gene Summary',NULL,2140,NULL,'The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(20587,'NCBI Gene PubMed Count',NULL,2140,NULL,NULL,NULL,44,NULL,NULL,NULL),(20588,'NCBI Gene PubMed Count',NULL,2141,NULL,NULL,NULL,6,NULL,NULL,NULL),(20589,'NCBI Gene PubMed Count',NULL,2142,NULL,NULL,NULL,9,NULL,NULL,NULL),(20590,'NCBI Gene PubMed Count',NULL,2143,NULL,NULL,NULL,11,NULL,NULL,NULL),(20591,'NCBI Gene Summary',NULL,2144,NULL,'This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(20592,'NCBI Gene PubMed Count',NULL,2144,NULL,NULL,NULL,335,NULL,NULL,NULL),(20593,'NCBI Gene Summary',NULL,2145,NULL,'The protein encoded by this gene, a member of the peptidase C1 family, is a cysteine proteinase that may have a specific function in the mechanism or regulation of T-cell cytolytic activity. The encoded protein is found associated with the membrane inside the endoplasmic reticulum of natural killer and cytotoxic T-cells. Expression of this gene is up-regulated by interleukin-2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20594,'NCBI Gene PubMed Count',NULL,2145,NULL,NULL,NULL,19,NULL,NULL,NULL),(20595,'NCBI Gene Summary',NULL,2146,NULL,'The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(20596,'NCBI Gene PubMed Count',NULL,2146,NULL,NULL,NULL,45,NULL,NULL,NULL),(20597,'NCBI Gene Summary',NULL,2147,NULL,'This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3\' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(20598,'NCBI Gene PubMed Count',NULL,2147,NULL,NULL,NULL,54,NULL,NULL,NULL),(20599,'NCBI Gene Summary',NULL,2148,NULL,'This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(20600,'NCBI Gene PubMed Count',NULL,2148,NULL,NULL,NULL,32,NULL,NULL,NULL),(20601,'NCBI Gene PubMed Count',NULL,2149,NULL,NULL,NULL,14,NULL,NULL,NULL),(20602,'NCBI Gene PubMed Count',NULL,2150,NULL,NULL,NULL,3,NULL,NULL,NULL),(20603,'NCBI Gene Summary',NULL,2151,NULL,'This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that catalyze the release of carboxy-terminal amino acids, and are synthesized as zymogens that are activated by proteolytic cleavage. This gene could be involved in the histone hyperacetylation pathway. It is imprinted and may be a strong candidate gene for prostate cancer aggressiveness. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20604,'NCBI Gene PubMed Count',NULL,2151,NULL,NULL,NULL,17,NULL,NULL,NULL),(20605,'NCBI Gene Summary',NULL,2152,NULL,'This gene encodes a member of the M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature peptidase. This peripheral membrane protein cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. This protein may also function independently of its peptidase activity, as a neurotrophic factor that promotes neuronal survival, and as a sorting receptor that binds to regulated secretory pathway proteins, including prohormones. Mutations in this gene are implicated in type 2 diabetes. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(20606,'NCBI Gene PubMed Count',NULL,2152,NULL,NULL,NULL,64,NULL,NULL,NULL),(20607,'NCBI Gene Summary',NULL,2153,NULL,'This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquitin-protein ligase. Protein localization suggests a role in human sperm production and quality control. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(20608,'NCBI Gene PubMed Count',NULL,2153,NULL,NULL,NULL,8,NULL,NULL,NULL),(20609,'NCBI Gene Summary',NULL,2154,NULL,'Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20610,'NCBI Gene PubMed Count',NULL,2154,NULL,NULL,NULL,25,NULL,NULL,NULL),(20611,'NCBI Gene Summary',NULL,2155,NULL,'NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(20612,'NCBI Gene PubMed Count',NULL,2155,NULL,NULL,NULL,12,NULL,NULL,NULL),(20613,'NCBI Gene Summary',NULL,2156,NULL,'At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5\' UTR, have been found for this gene.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(20614,'NCBI Gene PubMed Count',NULL,2156,NULL,NULL,NULL,82,NULL,NULL,NULL),(20615,'NCBI Gene Summary',NULL,2157,NULL,'This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(20616,'NCBI Gene PubMed Count',NULL,2157,NULL,NULL,NULL,31,NULL,NULL,NULL),(20617,'NCBI Gene PubMed Count',NULL,2158,NULL,NULL,NULL,2,NULL,NULL,NULL),(20618,'NCBI Gene PubMed Count',NULL,2159,NULL,NULL,NULL,14,NULL,NULL,NULL),(20619,'NCBI Gene PubMed Count',NULL,2160,NULL,NULL,NULL,10,NULL,NULL,NULL),(20620,'NCBI Gene Summary',NULL,2161,NULL,'The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20621,'NCBI Gene PubMed Count',NULL,2161,NULL,NULL,NULL,26,NULL,NULL,NULL),(20622,'NCBI Gene PubMed Count',NULL,2162,NULL,NULL,NULL,2,NULL,NULL,NULL),(20623,'NCBI Gene PubMed Count',NULL,2163,NULL,NULL,NULL,12,NULL,NULL,NULL),(20624,'NCBI Gene PubMed Count',NULL,2164,NULL,NULL,NULL,7,NULL,NULL,NULL),(20625,'NCBI Gene Summary',NULL,2165,NULL,'This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(20626,'NCBI Gene PubMed Count',NULL,2165,NULL,NULL,NULL,13,NULL,NULL,NULL),(20627,'NCBI Gene Summary',NULL,2166,NULL,'The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20628,'NCBI Gene PubMed Count',NULL,2166,NULL,NULL,NULL,39,NULL,NULL,NULL),(20629,'NCBI Gene Summary',NULL,2167,NULL,'This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(20630,'NCBI Gene PubMed Count',NULL,2167,NULL,NULL,NULL,519,NULL,NULL,NULL),(20631,'NCBI Gene PubMed Count',NULL,2168,NULL,NULL,NULL,5,NULL,NULL,NULL),(20632,'NCBI Gene PubMed Count',NULL,2169,NULL,NULL,NULL,2,NULL,NULL,NULL),(20633,'NCBI Gene PubMed Count',NULL,2170,NULL,NULL,NULL,12,NULL,NULL,NULL),(20634,'NCBI Gene PubMed Count',NULL,2171,NULL,NULL,NULL,3,NULL,NULL,NULL),(20635,'NCBI Gene PubMed Count',NULL,2172,NULL,NULL,NULL,11,NULL,NULL,NULL),(20636,'NCBI Gene Summary',NULL,2173,NULL,'The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(20637,'NCBI Gene PubMed Count',NULL,2173,NULL,NULL,NULL,311,NULL,NULL,NULL),(20638,'NCBI Gene Summary',NULL,2174,NULL,'The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). The encoded protein is necessary for proper control of the G2/M transition phase of the cell cycle. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(20639,'NCBI Gene PubMed Count',NULL,2174,NULL,NULL,NULL,283,NULL,NULL,NULL),(20640,'NCBI Gene Summary',NULL,2175,NULL,'The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The 8 species of cyclins reported in mammals, cyclins A through H, share a conserved amino acid sequence of about 90 residues called the cyclin box. The amino acid sequence of cyclin G is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin G2 are 53% identical. Unlike cyclin G1, cyclin G2 contains a C-terminal PEST protein destabilization motif, suggesting that cyclin G2 expression is tightly regulated through the cell cycle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20641,'NCBI Gene PubMed Count',NULL,2175,NULL,NULL,NULL,40,NULL,NULL,NULL),(20642,'NCBI Gene Summary',NULL,2176,NULL,'Cyclins, such as CCNY, control cell division cycles and regulate cyclin-dependent kinases (e.g., CDC2; MIM 116940) (Li et al., 2009 [PubMed 18060517]).[supplied by OMIM, May 2009]',NULL,NULL,NULL,NULL,NULL),(20643,'NCBI Gene PubMed Count',NULL,2176,NULL,NULL,NULL,39,NULL,NULL,NULL),(20644,'NCBI Gene Summary',NULL,2177,NULL,'This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(20645,'NCBI Gene PubMed Count',NULL,2177,NULL,NULL,NULL,62,NULL,NULL,NULL),(20646,'NCBI Gene Summary',NULL,2178,NULL,'This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(20647,'NCBI Gene PubMed Count',NULL,2178,NULL,NULL,NULL,151,NULL,NULL,NULL),(20648,'NCBI Gene Summary',NULL,2179,NULL,'The protein encoded by this gene is a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The encoded protein mediates agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This protein can also be a coreceptor with CD4 for HIV-1 infection. This gene is located in the chemokine receptor gene cluster region of chromosome 3. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(20649,'NCBI Gene PubMed Count',NULL,2179,NULL,NULL,NULL,471,NULL,NULL,NULL),(20650,'NCBI Gene Summary',NULL,2180,NULL,'This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(20651,'NCBI Gene PubMed Count',NULL,2180,NULL,NULL,NULL,116,NULL,NULL,NULL),(20652,'NCBI Gene Summary',NULL,2181,NULL,'This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20653,'NCBI Gene PubMed Count',NULL,2181,NULL,NULL,NULL,59,NULL,NULL,NULL),(20654,'NCBI Gene Summary',NULL,2182,NULL,'This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as well as in stabilizing actin filament lengths in muscle and nonmuscle cells. A pseudogene of this gene is located on the long arm of chromosome 2. Multiple alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(20655,'NCBI Gene PubMed Count',NULL,2182,NULL,NULL,NULL,37,NULL,NULL,NULL),(20656,'NCBI Gene Summary',NULL,2183,NULL,'The protein encoded by this gene regulates the DNA damage response through several different signaling pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damage response. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(20657,'NCBI Gene PubMed Count',NULL,2183,NULL,NULL,NULL,22,NULL,NULL,NULL),(20658,'NCBI Gene PubMed Count',NULL,2184,NULL,NULL,NULL,14,NULL,NULL,NULL),(20659,'NCBI Gene PubMed Count',NULL,2185,NULL,NULL,NULL,6,NULL,NULL,NULL),(20660,'NCBI Gene PubMed Count',NULL,2186,NULL,NULL,NULL,16,NULL,NULL,NULL),(20661,'NCBI Gene PubMed Count',NULL,2187,NULL,NULL,NULL,7,NULL,NULL,NULL),(20662,'NCBI Gene PubMed Count',NULL,2189,NULL,NULL,NULL,9,NULL,NULL,NULL),(20663,'NCBI Gene PubMed Count',NULL,2190,NULL,NULL,NULL,10,NULL,NULL,NULL),(20664,'NCBI Gene PubMed Count',NULL,2191,NULL,NULL,NULL,4,NULL,NULL,NULL),(20665,'NCBI Gene PubMed Count',NULL,2192,NULL,NULL,NULL,10,NULL,NULL,NULL),(20666,'NCBI Gene PubMed Count',NULL,2193,NULL,NULL,NULL,7,NULL,NULL,NULL),(20667,'NCBI Gene PubMed Count',NULL,2194,NULL,NULL,NULL,12,NULL,NULL,NULL),(20668,'NCBI Gene PubMed Count',NULL,2195,NULL,NULL,NULL,11,NULL,NULL,NULL),(20669,'NCBI Gene PubMed Count',NULL,2196,NULL,NULL,NULL,8,NULL,NULL,NULL),(20670,'NCBI Gene Summary',NULL,2197,NULL,'This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(20671,'NCBI Gene PubMed Count',NULL,2197,NULL,NULL,NULL,1286,NULL,NULL,NULL),(20672,'NCBI Gene Summary',NULL,2198,NULL,'This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20673,'NCBI Gene PubMed Count',NULL,2198,NULL,NULL,NULL,89,NULL,NULL,NULL),(20674,'NCBI Gene PubMed Count',NULL,2199,NULL,NULL,NULL,19,NULL,NULL,NULL),(20675,'NCBI Gene Summary',NULL,2200,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(20676,'NCBI Gene PubMed Count',NULL,2200,NULL,NULL,NULL,42,NULL,NULL,NULL),(20677,'NCBI Gene Summary',NULL,2201,NULL,'The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20678,'NCBI Gene PubMed Count',NULL,2201,NULL,NULL,NULL,257,NULL,NULL,NULL),(20679,'NCBI Gene Summary',NULL,2202,NULL,'This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(20680,'NCBI Gene PubMed Count',NULL,2202,NULL,NULL,NULL,17,NULL,NULL,NULL),(20681,'NCBI Gene Summary',NULL,2203,NULL,'The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role in signal transduction cascades in terminally differentiated cells; in exocytosis; and in transport of secretory cargo from the endoplasmic reticulum. This gene is thought to escape X inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(20682,'NCBI Gene PubMed Count',NULL,2203,NULL,NULL,NULL,43,NULL,NULL,NULL),(20683,'NCBI Gene Summary',NULL,2204,NULL,'The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(20684,'NCBI Gene PubMed Count',NULL,2204,NULL,NULL,NULL,89,NULL,NULL,NULL),(20685,'NCBI Gene Summary',NULL,2205,NULL,'The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20686,'NCBI Gene PubMed Count',NULL,2205,NULL,NULL,NULL,28,NULL,NULL,NULL),(20687,'NCBI Gene PubMed Count',NULL,2206,NULL,NULL,NULL,2,NULL,NULL,NULL),(20688,'NCBI Gene PubMed Count',NULL,2207,NULL,NULL,NULL,2,NULL,NULL,NULL),(20689,'NCBI Gene PubMed Count',NULL,2208,NULL,NULL,NULL,6,NULL,NULL,NULL),(20690,'NCBI Gene Summary',NULL,2209,NULL,'This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(20691,'NCBI Gene PubMed Count',NULL,2209,NULL,NULL,NULL,24,NULL,NULL,NULL),(20692,'NCBI Gene PubMed Count',NULL,2210,NULL,NULL,NULL,7,NULL,NULL,NULL),(20693,'NCBI Gene Summary',NULL,2211,NULL,'The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(20694,'NCBI Gene PubMed Count',NULL,2211,NULL,NULL,NULL,14,NULL,NULL,NULL),(20695,'NCBI Gene Summary',NULL,2212,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Differential expression of this gene may be associated with progression of breast and prostate cancer. Mutations in this gene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(20696,'NCBI Gene PubMed Count',NULL,2212,NULL,NULL,NULL,130,NULL,NULL,NULL),(20697,'NCBI Gene Summary',NULL,2213,NULL,'Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(20698,'NCBI Gene PubMed Count',NULL,2213,NULL,NULL,NULL,14,NULL,NULL,NULL),(20699,'NCBI Gene PubMed Count',NULL,2214,NULL,NULL,NULL,1,NULL,NULL,NULL),(20700,'NCBI Gene Summary',NULL,2215,NULL,'The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20701,'NCBI Gene PubMed Count',NULL,2215,NULL,NULL,NULL,198,NULL,NULL,NULL),(20702,'NCBI Gene Summary',NULL,2216,NULL,'This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20703,'NCBI Gene PubMed Count',NULL,2216,NULL,NULL,NULL,21,NULL,NULL,NULL),(20704,'NCBI Gene PubMed Count',NULL,2217,NULL,NULL,NULL,25,NULL,NULL,NULL),(20705,'NCBI Gene PubMed Count',NULL,2218,NULL,NULL,NULL,13,NULL,NULL,NULL),(20706,'NCBI Gene Summary',NULL,2219,NULL,'This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(20707,'NCBI Gene PubMed Count',NULL,2219,NULL,NULL,NULL,61,NULL,NULL,NULL),(20708,'NCBI Gene PubMed Count',NULL,2220,NULL,NULL,NULL,6,NULL,NULL,NULL),(20709,'NCBI Gene Summary',NULL,2221,NULL,'This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(20710,'NCBI Gene PubMed Count',NULL,2221,NULL,NULL,NULL,20,NULL,NULL,NULL),(20711,'NCBI Gene PubMed Count',NULL,2222,NULL,NULL,NULL,6,NULL,NULL,NULL),(20712,'NCBI Gene Summary',NULL,2223,NULL,'This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20713,'NCBI Gene PubMed Count',NULL,2223,NULL,NULL,NULL,92,NULL,NULL,NULL),(20714,'NCBI Gene Summary',NULL,2224,NULL,'Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3\' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(20715,'NCBI Gene PubMed Count',NULL,2224,NULL,NULL,NULL,224,NULL,NULL,NULL),(20716,'NCBI Gene Summary',NULL,2225,NULL,'This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(20717,'NCBI Gene PubMed Count',NULL,2225,NULL,NULL,NULL,18,NULL,NULL,NULL),(20718,'NCBI Gene Summary',NULL,2226,NULL,'The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(20719,'NCBI Gene PubMed Count',NULL,2226,NULL,NULL,NULL,14,NULL,NULL,NULL),(20720,'NCBI Gene Summary',NULL,2227,NULL,'This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein\'s homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20721,'NCBI Gene PubMed Count',NULL,2227,NULL,NULL,NULL,21,NULL,NULL,NULL),(20722,'NCBI Gene Summary',NULL,2228,NULL,'This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator and as an antimicrobial peptide while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(20723,'NCBI Gene PubMed Count',NULL,2228,NULL,NULL,NULL,421,NULL,NULL,NULL),(20724,'NCBI Gene Summary',NULL,2229,NULL,'This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(20725,'NCBI Gene PubMed Count',NULL,2229,NULL,NULL,NULL,182,NULL,NULL,NULL),(20726,'NCBI Gene Summary',NULL,2230,NULL,'This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20727,'NCBI Gene PubMed Count',NULL,2230,NULL,NULL,NULL,8,NULL,NULL,NULL),(20728,'NCBI Gene Summary',NULL,2231,NULL,'This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(20729,'NCBI Gene PubMed Count',NULL,2231,NULL,NULL,NULL,53,NULL,NULL,NULL),(20730,'NCBI Gene Summary',NULL,2232,NULL,'The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil elastase activity. The encoded protein has been implicated in several pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed of disulfide-linked heavy and light chains, both produced from a single protein precursor. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(20731,'NCBI Gene PubMed Count',NULL,2232,NULL,NULL,NULL,215,NULL,NULL,NULL),(20732,'NCBI Gene Summary',NULL,2233,NULL,'The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may participate in the degradation of antigenic proteins to peptides for presentation on MHC class II molecules. The encoded protein can function as an elastase over a broad pH range in alveolar macrophages. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(20733,'NCBI Gene PubMed Count',NULL,2233,NULL,NULL,NULL,151,NULL,NULL,NULL),(20734,'NCBI Gene Summary',NULL,2234,NULL,'The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(20735,'NCBI Gene PubMed Count',NULL,2234,NULL,NULL,NULL,33,NULL,NULL,NULL),(20736,'NCBI Gene PubMed Count',NULL,2235,NULL,NULL,NULL,5,NULL,NULL,NULL),(20737,'NCBI Gene PubMed Count',NULL,2236,NULL,NULL,NULL,2,NULL,NULL,NULL),(20738,'NCBI Gene PubMed Count',NULL,2237,NULL,NULL,NULL,2,NULL,NULL,NULL),(20739,'NCBI Gene PubMed Count',NULL,2238,NULL,NULL,NULL,8,NULL,NULL,NULL),(20740,'NCBI Gene Summary',NULL,2239,NULL,'This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(20741,'NCBI Gene PubMed Count',NULL,2239,NULL,NULL,NULL,129,NULL,NULL,NULL),(20742,'NCBI Gene PubMed Count',NULL,2240,NULL,NULL,NULL,7,NULL,NULL,NULL),(20743,'NCBI Gene PubMed Count',NULL,2241,NULL,NULL,NULL,5,NULL,NULL,NULL),(20744,'NCBI Gene Summary',NULL,2242,NULL,'The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(20745,'NCBI Gene PubMed Count',NULL,2242,NULL,NULL,NULL,98,NULL,NULL,NULL),(20746,'NCBI Gene Summary',NULL,2243,NULL,'Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(20747,'NCBI Gene PubMed Count',NULL,2243,NULL,NULL,NULL,214,NULL,NULL,NULL),(20748,'NCBI Gene Summary',NULL,2244,NULL,'This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(20749,'NCBI Gene PubMed Count',NULL,2244,NULL,NULL,NULL,15,NULL,NULL,NULL),(20750,'NCBI Gene Summary',NULL,2245,NULL,'This gene is a member of the metallocarboxypeptidase gene family. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(20751,'NCBI Gene PubMed Count',NULL,2245,NULL,NULL,NULL,8,NULL,NULL,NULL),(20752,'NCBI Gene Summary',NULL,2246,NULL,'This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5\' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(20753,'NCBI Gene PubMed Count',NULL,2246,NULL,NULL,NULL,357,NULL,NULL,NULL),(20754,'NCBI Gene PubMed Count',NULL,2247,NULL,NULL,NULL,3,NULL,NULL,NULL),(20755,'NCBI Gene PubMed Count',NULL,2248,NULL,NULL,NULL,8,NULL,NULL,NULL),(20756,'NCBI Gene PubMed Count',NULL,2249,NULL,NULL,NULL,4,NULL,NULL,NULL),(20757,'NCBI Gene Summary',NULL,2250,NULL,'The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet\'s Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(20758,'NCBI Gene PubMed Count',NULL,2250,NULL,NULL,NULL,12,NULL,NULL,NULL),(20759,'NCBI Gene PubMed Count',NULL,2251,NULL,NULL,NULL,8,NULL,NULL,NULL),(20760,'NCBI Gene PubMed Count',NULL,2252,NULL,NULL,NULL,5,NULL,NULL,NULL),(20761,'NCBI Gene PubMed Count',NULL,2253,NULL,NULL,NULL,3,NULL,NULL,NULL),(20762,'NCBI Gene PubMed Count',NULL,2254,NULL,NULL,NULL,37,NULL,NULL,NULL),(20763,'NCBI Gene PubMed Count',NULL,2255,NULL,NULL,NULL,9,NULL,NULL,NULL),(20764,'NCBI Gene PubMed Count',NULL,2256,NULL,NULL,NULL,18,NULL,NULL,NULL),(20765,'NCBI Gene PubMed Count',NULL,2257,NULL,NULL,NULL,4,NULL,NULL,NULL),(20766,'NCBI Gene PubMed Count',NULL,2258,NULL,NULL,NULL,20,NULL,NULL,NULL),(20767,'NCBI Gene Summary',NULL,2259,NULL,'The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(20768,'NCBI Gene PubMed Count',NULL,2259,NULL,NULL,NULL,37,NULL,NULL,NULL),(20769,'NCBI Gene PubMed Count',NULL,2260,NULL,NULL,NULL,11,NULL,NULL,NULL),(20770,'NCBI Gene Summary',NULL,2261,NULL,'This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(20771,'NCBI Gene PubMed Count',NULL,2261,NULL,NULL,NULL,3,NULL,NULL,NULL),(20772,'NCBI Gene Summary',NULL,2262,NULL,'This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20773,'NCBI Gene PubMed Count',NULL,2262,NULL,NULL,NULL,85,NULL,NULL,NULL),(20774,'NCBI Gene Summary',NULL,2263,NULL,'The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(20775,'NCBI Gene PubMed Count',NULL,2263,NULL,NULL,NULL,115,NULL,NULL,NULL),(20776,'NCBI Gene Summary',NULL,2264,NULL,'The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(20777,'NCBI Gene PubMed Count',NULL,2264,NULL,NULL,NULL,9,NULL,NULL,NULL),(20778,'NCBI Gene Summary',NULL,2265,NULL,'Cyclin B2 is a member of the cyclin family, specifically the B-type cyclins. The B-type cyclins, B1 and B2, associate with p34cdc2 and are essential components of the cell cycle regulatory machinery. B1 and B2 differ in their subcellular localization. Cyclin B1 co-localizes with microtubules, whereas cyclin B2 is primarily associated with the Golgi region. Cyclin B2 also binds to transforming growth factor beta RII and thus cyclin B2/cdc2 may play a key role in transforming growth factor beta-mediated cell cycle control. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20779,'NCBI Gene PubMed Count',NULL,2265,NULL,NULL,NULL,51,NULL,NULL,NULL),(20780,'NCBI Gene PubMed Count',NULL,2266,NULL,NULL,NULL,10,NULL,NULL,NULL),(20781,'NCBI Gene Summary',NULL,2267,NULL,'The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. Signals mediated by this receptor regulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(20782,'NCBI Gene PubMed Count',NULL,2267,NULL,NULL,NULL,256,NULL,NULL,NULL),(20783,'NCBI Gene PubMed Count',NULL,2268,NULL,NULL,NULL,10,NULL,NULL,NULL),(20784,'NCBI Gene Summary',NULL,2269,NULL,'This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(20785,'NCBI Gene PubMed Count',NULL,2269,NULL,NULL,NULL,165,NULL,NULL,NULL),(20786,'NCBI Gene PubMed Count',NULL,2270,NULL,NULL,NULL,1,NULL,NULL,NULL),(20787,'NCBI Gene PubMed Count',NULL,2271,NULL,NULL,NULL,30,NULL,NULL,NULL),(20788,'NCBI Gene Summary',NULL,2272,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20789,'NCBI Gene PubMed Count',NULL,2272,NULL,NULL,NULL,29,NULL,NULL,NULL),(20790,'NCBI Gene Summary',NULL,2273,NULL,'The protein encoded by this gene is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20791,'NCBI Gene PubMed Count',NULL,2273,NULL,NULL,NULL,11,NULL,NULL,NULL),(20792,'NCBI Gene PubMed Count',NULL,2274,NULL,NULL,NULL,3,NULL,NULL,NULL),(20793,'NCBI Gene Summary',NULL,2275,NULL,'This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20794,'NCBI Gene PubMed Count',NULL,2275,NULL,NULL,NULL,82,NULL,NULL,NULL),(20795,'NCBI Gene Summary',NULL,2276,NULL,'This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. This protein also plays a role in early embryonic development of the intestinal tract. Aberrant expression of this gene is associated with intestinal inflammation and tumorigenesis. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(20796,'NCBI Gene PubMed Count',NULL,2276,NULL,NULL,NULL,295,NULL,NULL,NULL),(20797,'NCBI Gene Summary',NULL,2277,NULL,'The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(20798,'NCBI Gene PubMed Count',NULL,2277,NULL,NULL,NULL,43,NULL,NULL,NULL),(20799,'NCBI Gene Summary',NULL,2278,NULL,'This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(20800,'NCBI Gene PubMed Count',NULL,2278,NULL,NULL,NULL,8,NULL,NULL,NULL),(20801,'NCBI Gene PubMed Count',NULL,2279,NULL,NULL,NULL,13,NULL,NULL,NULL),(20802,'NCBI Gene Summary',NULL,2280,NULL,'The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(20803,'NCBI Gene PubMed Count',NULL,2280,NULL,NULL,NULL,172,NULL,NULL,NULL),(20804,'NCBI Gene PubMed Count',NULL,2281,NULL,NULL,NULL,12,NULL,NULL,NULL),(20805,'NCBI Gene PubMed Count',NULL,2282,NULL,NULL,NULL,3,NULL,NULL,NULL),(20806,'NCBI Gene Summary',NULL,2283,NULL,'This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer\'s disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(20807,'NCBI Gene PubMed Count',NULL,2283,NULL,NULL,NULL,354,NULL,NULL,NULL),(20808,'NCBI Gene PubMed Count',NULL,2284,NULL,NULL,NULL,3,NULL,NULL,NULL),(20809,'NCBI Gene PubMed Count',NULL,2285,NULL,NULL,NULL,2,NULL,NULL,NULL),(20810,'NCBI Gene Summary',NULL,2286,NULL,'This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20811,'NCBI Gene PubMed Count',NULL,2286,NULL,NULL,NULL,57,NULL,NULL,NULL),(20812,'NCBI Gene Summary',NULL,2287,NULL,'This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(20813,'NCBI Gene PubMed Count',NULL,2287,NULL,NULL,NULL,13,NULL,NULL,NULL),(20814,'NCBI Gene Summary',NULL,2288,NULL,'The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. In addition, the encoded protein is antimicrobial, with bacteriocidal activity against S. aureus and N. gonorrhoeae. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(20815,'NCBI Gene PubMed Count',NULL,2288,NULL,NULL,NULL,124,NULL,NULL,NULL),(20816,'NCBI Gene Summary',NULL,2289,NULL,'This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(20817,'NCBI Gene PubMed Count',NULL,2289,NULL,NULL,NULL,13,NULL,NULL,NULL),(20818,'NCBI Gene Summary',NULL,2290,NULL,'This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(20819,'NCBI Gene PubMed Count',NULL,2290,NULL,NULL,NULL,23,NULL,NULL,NULL),(20820,'NCBI Gene Summary',NULL,2291,NULL,'This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein is proteolytically processed to generate a mature protease that is released by mast cells and may be involved in the degradation of endogenous proteins and the inactivation of venom-associated peptides. Expression of this gene may be elevated in human asthma patients. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(20821,'NCBI Gene PubMed Count',NULL,2291,NULL,NULL,NULL,26,NULL,NULL,NULL),(20822,'NCBI Gene PubMed Count',NULL,2292,NULL,NULL,NULL,2,NULL,NULL,NULL),(20823,'NCBI Gene PubMed Count',NULL,2293,NULL,NULL,NULL,0,NULL,NULL,NULL),(20824,'NCBI Gene PubMed Count',NULL,2294,NULL,NULL,NULL,3,NULL,NULL,NULL),(20825,'NCBI Gene PubMed Count',NULL,2295,NULL,NULL,NULL,6,NULL,NULL,NULL),(20826,'NCBI Gene PubMed Count',NULL,2296,NULL,NULL,NULL,2,NULL,NULL,NULL),(20827,'NCBI Gene PubMed Count',NULL,2297,NULL,NULL,NULL,6,NULL,NULL,NULL),(20828,'NCBI Gene PubMed Count',NULL,2298,NULL,NULL,NULL,5,NULL,NULL,NULL),(20829,'NCBI Gene PubMed Count',NULL,2299,NULL,NULL,NULL,7,NULL,NULL,NULL),(20830,'NCBI Gene PubMed Count',NULL,2300,NULL,NULL,NULL,9,NULL,NULL,NULL),(20831,'NCBI Gene PubMed Count',NULL,2301,NULL,NULL,NULL,11,NULL,NULL,NULL),(20832,'NCBI Gene Summary',NULL,2302,NULL,'The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20833,'NCBI Gene PubMed Count',NULL,2302,NULL,NULL,NULL,27,NULL,NULL,NULL),(20834,'NCBI Gene PubMed Count',NULL,2303,NULL,NULL,NULL,0,NULL,NULL,NULL),(20835,'NCBI Gene Summary',NULL,2304,NULL,'The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(20836,'NCBI Gene PubMed Count',NULL,2304,NULL,NULL,NULL,70,NULL,NULL,NULL),(20837,'NCBI Gene Summary',NULL,2305,NULL,'Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols.  The enzyme is classified as a monomeric NADPH-dependent oxidoreductase.  CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20838,'NCBI Gene PubMed Count',NULL,2305,NULL,NULL,NULL,41,NULL,NULL,NULL),(20839,'NCBI Gene Summary',NULL,2306,NULL,'This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(20840,'NCBI Gene PubMed Count',NULL,2306,NULL,NULL,NULL,20,NULL,NULL,NULL),(20841,'NCBI Gene PubMed Count',NULL,2307,NULL,NULL,NULL,15,NULL,NULL,NULL),(20842,'NCBI Gene PubMed Count',NULL,2308,NULL,NULL,NULL,3,NULL,NULL,NULL),(20843,'NCBI Gene Summary',NULL,2309,NULL,'This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20844,'NCBI Gene PubMed Count',NULL,2309,NULL,NULL,NULL,85,NULL,NULL,NULL),(20845,'NCBI Gene Summary',NULL,2310,NULL,'This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for resting CD4 or CD8 T cells and eosinophils. The product of this gene binds to chemokine receptors CCR3 and CCR10. This chemokine may play a role in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(20846,'NCBI Gene PubMed Count',NULL,2310,NULL,NULL,NULL,43,NULL,NULL,NULL),(20847,'NCBI Gene PubMed Count',NULL,2311,NULL,NULL,NULL,9,NULL,NULL,NULL),(20848,'NCBI Gene Summary',NULL,2312,NULL,'This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(20849,'NCBI Gene PubMed Count',NULL,2312,NULL,NULL,NULL,139,NULL,NULL,NULL),(20850,'NCBI Gene Summary',NULL,2313,NULL,'This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20851,'NCBI Gene PubMed Count',NULL,2313,NULL,NULL,NULL,87,NULL,NULL,NULL),(20852,'NCBI Gene Summary',NULL,2314,NULL,'This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymphocytes and can repress proliferation of myeloid progenitors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(20853,'NCBI Gene PubMed Count',NULL,2314,NULL,NULL,NULL,205,NULL,NULL,NULL),(20854,'NCBI Gene PubMed Count',NULL,2315,NULL,NULL,NULL,3,NULL,NULL,NULL),(20855,'NCBI Gene Summary',NULL,2316,NULL,'The protein encoded by this gene belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20856,'NCBI Gene PubMed Count',NULL,2316,NULL,NULL,NULL,86,NULL,NULL,NULL),(20857,'NCBI Gene Summary',NULL,2317,NULL,'This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity on resting T lymphocytes and monocytes, lower activity on neutrophils and no activity on activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. In addition, the product of this gene is a potent agonist of the chemokine (C-C motif) receptor 1. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(20858,'NCBI Gene PubMed Count',NULL,2317,NULL,NULL,NULL,43,NULL,NULL,NULL),(20859,'NCBI Gene Summary',NULL,2318,NULL,'This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20860,'NCBI Gene PubMed Count',NULL,2318,NULL,NULL,NULL,52,NULL,NULL,NULL),(20861,'NCBI Gene Summary',NULL,2319,NULL,'This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(20862,'NCBI Gene PubMed Count',NULL,2319,NULL,NULL,NULL,63,NULL,NULL,NULL),(20863,'NCBI Gene Summary',NULL,2320,NULL,'The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(20864,'NCBI Gene PubMed Count',NULL,2320,NULL,NULL,NULL,161,NULL,NULL,NULL),(20865,'NCBI Gene Summary',NULL,2321,NULL,'This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(20866,'NCBI Gene PubMed Count',NULL,2321,NULL,NULL,NULL,57,NULL,NULL,NULL),(20867,'NCBI Gene Summary',NULL,2322,NULL,'This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(20868,'NCBI Gene PubMed Count',NULL,2322,NULL,NULL,NULL,65,NULL,NULL,NULL),(20869,'NCBI Gene Summary',NULL,2323,NULL,'The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20870,'NCBI Gene PubMed Count',NULL,2323,NULL,NULL,NULL,86,NULL,NULL,NULL),(20871,'NCBI Gene Summary',NULL,2324,NULL,'The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20872,'NCBI Gene PubMed Count',NULL,2324,NULL,NULL,NULL,476,NULL,NULL,NULL),(20873,'NCBI Gene Summary',NULL,2325,NULL,'This gene encodes a transmembrane protein which is a member of the immunoglobulin superfamily. This protein is found on thymocytes and mature T cells. It plays an essential role in T-cell interactions and also in T-cell/B-cell interaction during early lymphoid development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20874,'NCBI Gene PubMed Count',NULL,2325,NULL,NULL,NULL,40,NULL,NULL,NULL),(20875,'NCBI Gene Summary',NULL,2326,NULL,'The protein encoded by this gene belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response. Studies show that while the transcript of this gene is ubiquitously expressed in normal tissues and solid tumors, the protein is preferentially expressed only in tumor tissues. Additionally, it was observed that the 3\' UTR of this transcript contains a target site for miR29 microRNA, and there is an inverse correlation between the expression of this protein and miR29 levels, suggesting regulation of expression of this gene product by miR29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(20876,'NCBI Gene PubMed Count',NULL,2326,NULL,NULL,NULL,120,NULL,NULL,NULL),(20877,'NCBI Gene Summary',NULL,2327,NULL,'CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle.  It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20878,'NCBI Gene PubMed Count',NULL,2327,NULL,NULL,NULL,156,NULL,NULL,NULL),(20879,'NCBI Gene Summary',NULL,2328,NULL,'This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(20880,'NCBI Gene PubMed Count',NULL,2328,NULL,NULL,NULL,195,NULL,NULL,NULL),(20881,'NCBI Gene Summary',NULL,2329,NULL,'The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(20882,'NCBI Gene PubMed Count',NULL,2329,NULL,NULL,NULL,122,NULL,NULL,NULL),(20883,'NCBI Gene PubMed Count',NULL,2330,NULL,NULL,NULL,13,NULL,NULL,NULL),(20884,'NCBI Gene Summary',NULL,2331,NULL,'The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(20885,'NCBI Gene PubMed Count',NULL,2331,NULL,NULL,NULL,8,NULL,NULL,NULL),(20886,'NCBI Gene Summary',NULL,2332,NULL,'This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(20887,'NCBI Gene PubMed Count',NULL,2332,NULL,NULL,NULL,42,NULL,NULL,NULL),(20888,'NCBI Gene Summary',NULL,2333,NULL,'The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(20889,'NCBI Gene PubMed Count',NULL,2333,NULL,NULL,NULL,860,NULL,NULL,NULL),(20890,'NCBI Gene PubMed Count',NULL,2334,NULL,NULL,NULL,2,NULL,NULL,NULL),(20891,'NCBI Gene PubMed Count',NULL,2335,NULL,NULL,NULL,0,NULL,NULL,NULL),(20892,'NCBI Gene Summary',NULL,2336,NULL,'This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(20893,'NCBI Gene PubMed Count',NULL,2336,NULL,NULL,NULL,31,NULL,NULL,NULL),(20894,'NCBI Gene PubMed Count',NULL,2337,NULL,NULL,NULL,21,NULL,NULL,NULL),(20895,'NCBI Gene Summary',NULL,2338,NULL,'The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(20896,'NCBI Gene PubMed Count',NULL,2338,NULL,NULL,NULL,166,NULL,NULL,NULL),(20897,'NCBI Gene PubMed Count',NULL,2339,NULL,NULL,NULL,6,NULL,NULL,NULL),(20898,'NCBI Gene Summary',NULL,2340,NULL,'Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(20899,'NCBI Gene PubMed Count',NULL,2340,NULL,NULL,NULL,5,NULL,NULL,NULL),(20900,'NCBI Gene PubMed Count',NULL,2341,NULL,NULL,NULL,9,NULL,NULL,NULL),(20901,'NCBI Gene PubMed Count',NULL,2342,NULL,NULL,NULL,4,NULL,NULL,NULL),(20902,'NCBI Gene PubMed Count',NULL,2343,NULL,NULL,NULL,8,NULL,NULL,NULL),(20903,'NCBI Gene PubMed Count',NULL,2344,NULL,NULL,NULL,2,NULL,NULL,NULL),(20904,'NCBI Gene PubMed Count',NULL,2345,NULL,NULL,NULL,0,NULL,NULL,NULL),(20905,'NCBI Gene Summary',NULL,2346,NULL,'Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(20906,'NCBI Gene PubMed Count',NULL,2346,NULL,NULL,NULL,17,NULL,NULL,NULL),(20907,'NCBI Gene Summary',NULL,2347,NULL,'This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(20908,'NCBI Gene PubMed Count',NULL,2347,NULL,NULL,NULL,10,NULL,NULL,NULL),(20909,'NCBI Gene PubMed Count',NULL,2348,NULL,NULL,NULL,2,NULL,NULL,NULL),(20910,'NCBI Gene PubMed Count',NULL,2349,NULL,NULL,NULL,7,NULL,NULL,NULL),(20911,'NCBI Gene PubMed Count',NULL,2350,NULL,NULL,NULL,7,NULL,NULL,NULL),(20912,'NCBI Gene PubMed Count',NULL,2351,NULL,NULL,NULL,2,NULL,NULL,NULL),(20913,'NCBI Gene Summary',NULL,2352,NULL,'The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(20914,'NCBI Gene PubMed Count',NULL,2352,NULL,NULL,NULL,15,NULL,NULL,NULL),(20915,'NCBI Gene PubMed Count',NULL,2353,NULL,NULL,NULL,5,NULL,NULL,NULL),(20916,'NCBI Gene PubMed Count',NULL,2354,NULL,NULL,NULL,5,NULL,NULL,NULL),(20917,'NCBI Gene PubMed Count',NULL,2355,NULL,NULL,NULL,3,NULL,NULL,NULL),(20918,'NCBI Gene PubMed Count',NULL,2356,NULL,NULL,NULL,6,NULL,NULL,NULL),(20919,'NCBI Gene PubMed Count',NULL,2357,NULL,NULL,NULL,13,NULL,NULL,NULL),(20920,'NCBI Gene PubMed Count',NULL,2358,NULL,NULL,NULL,16,NULL,NULL,NULL),(20921,'NCBI Gene Summary',NULL,2359,NULL,'The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(20922,'NCBI Gene PubMed Count',NULL,2359,NULL,NULL,NULL,11,NULL,NULL,NULL),(20923,'NCBI Gene PubMed Count',NULL,2360,NULL,NULL,NULL,9,NULL,NULL,NULL),(20924,'NCBI Gene PubMed Count',NULL,2361,NULL,NULL,NULL,3,NULL,NULL,NULL),(20925,'NCBI Gene PubMed Count',NULL,2362,NULL,NULL,NULL,7,NULL,NULL,NULL),(20926,'NCBI Gene Summary',NULL,2363,NULL,'Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(20927,'NCBI Gene PubMed Count',NULL,2363,NULL,NULL,NULL,13,NULL,NULL,NULL),(20928,'NCBI Gene Summary',NULL,2364,NULL,'The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20929,'NCBI Gene PubMed Count',NULL,2364,NULL,NULL,NULL,44,NULL,NULL,NULL),(20930,'NCBI Gene Summary',NULL,2365,NULL,'This gene, chemokine (C-C motif) ligand 14, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene induces changes in intracellular calcium concentration and enzyme release in monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Read-through transcripts are also expressed that include exons from the upstream cytokine gene, chemokine (C-C motif) ligand 15, and are represented as GeneID: 348249. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(20931,'NCBI Gene PubMed Count',NULL,2365,NULL,NULL,NULL,28,NULL,NULL,NULL),(20932,'NCBI Gene Summary',NULL,2366,NULL,'This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(20933,'NCBI Gene PubMed Count',NULL,2366,NULL,NULL,NULL,623,NULL,NULL,NULL),(20934,'NCBI Gene Summary',NULL,2367,NULL,'This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(20935,'NCBI Gene PubMed Count',NULL,2367,NULL,NULL,NULL,82,NULL,NULL,NULL),(20936,'NCBI Gene Summary',NULL,2368,NULL,'This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(20937,'NCBI Gene PubMed Count',NULL,2368,NULL,NULL,NULL,60,NULL,NULL,NULL),(20938,'NCBI Gene PubMed Count',NULL,2369,NULL,NULL,NULL,31,NULL,NULL,NULL),(20939,'NCBI Gene Summary',NULL,2370,NULL,'The protein encoded by this gene is essential for T-cell proliferation and survival, cytokine production, and T-helper type-2 development. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(20940,'NCBI Gene PubMed Count',NULL,2370,NULL,NULL,NULL,309,NULL,NULL,NULL),(20941,'NCBI Gene PubMed Count',NULL,2371,NULL,NULL,NULL,2,NULL,NULL,NULL),(20942,'NCBI Gene Summary',NULL,2372,NULL,'The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(20943,'NCBI Gene PubMed Count',NULL,2372,NULL,NULL,NULL,174,NULL,NULL,NULL),(20944,'NCBI Gene Summary',NULL,2373,NULL,'CD302 is a C-type lectin receptor involved in cell adhesion and migration, as well as endocytosis and phagocytosis (Kato et al., 2007 [PubMed 17947679]).[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(20945,'NCBI Gene PubMed Count',NULL,2373,NULL,NULL,NULL,14,NULL,NULL,NULL),(20946,'NCBI Gene PubMed Count',NULL,2374,NULL,NULL,NULL,4,NULL,NULL,NULL),(20947,'NCBI Gene Summary',NULL,2375,NULL,'This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(20948,'NCBI Gene PubMed Count',NULL,2375,NULL,NULL,NULL,112,NULL,NULL,NULL),(20949,'NCBI Gene Summary',NULL,2376,NULL,'This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(20950,'NCBI Gene PubMed Count',NULL,2376,NULL,NULL,NULL,72,NULL,NULL,NULL),(20951,'NCBI Gene Summary',NULL,2377,NULL,'The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(20952,'NCBI Gene PubMed Count',NULL,2377,NULL,NULL,NULL,525,NULL,NULL,NULL),(20953,'NCBI Gene Summary',NULL,2378,NULL,'The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20954,'NCBI Gene PubMed Count',NULL,2378,NULL,NULL,NULL,117,NULL,NULL,NULL),(20955,'NCBI Gene Summary',NULL,2379,NULL,'This gene encodes a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit, cyclin C, are components of the Mediator transcriptional regulatory complex, involved in both transcriptional activation and repression by phosphorylation of the carboxy-terminal domain of the largest subunit of RNA polymerase II. This kinase regulates transcription by targeting the cyclin-dependent kinase 7 subunits of the general transcription initiation factor IIH, thus providing a link between the Mediator complex and the basal transcription machinery. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(20956,'NCBI Gene PubMed Count',NULL,2379,NULL,NULL,NULL,84,NULL,NULL,NULL),(20957,'NCBI Gene Summary',NULL,2380,NULL,'The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20958,'NCBI Gene PubMed Count',NULL,2380,NULL,NULL,NULL,390,NULL,NULL,NULL),(20959,'NCBI Gene PubMed Count',NULL,2381,NULL,NULL,NULL,4,NULL,NULL,NULL),(20960,'NCBI Gene PubMed Count',NULL,2382,NULL,NULL,NULL,8,NULL,NULL,NULL),(20961,'NCBI Gene PubMed Count',NULL,2383,NULL,NULL,NULL,23,NULL,NULL,NULL),(20962,'NCBI Gene Summary',NULL,2384,NULL,'Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(20963,'NCBI Gene PubMed Count',NULL,2384,NULL,NULL,NULL,9,NULL,NULL,NULL),(20964,'NCBI Gene Summary',NULL,2385,NULL,'This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer\'s disease, Huntington\'s disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(20965,'NCBI Gene PubMed Count',NULL,2385,NULL,NULL,NULL,149,NULL,NULL,NULL),(20966,'NCBI Gene Summary',NULL,2386,NULL,'This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20967,'NCBI Gene PubMed Count',NULL,2386,NULL,NULL,NULL,727,NULL,NULL,NULL),(20968,'NCBI Gene PubMed Count',NULL,2387,NULL,NULL,NULL,4,NULL,NULL,NULL),(20969,'NCBI Gene PubMed Count',NULL,2388,NULL,NULL,NULL,3,NULL,NULL,NULL),(20970,'NCBI Gene Summary',NULL,2389,NULL,'The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme is involved in cellular protein degradation and turnover. The recombinant form of this enzyme was shown to degrade synthetic peptides typically used as substrates for cysteine proteinases and its proteolytic activity was abolished by an inhibitor of cyteine proteinase. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20971,'NCBI Gene PubMed Count',NULL,2389,NULL,NULL,NULL,12,NULL,NULL,NULL),(20972,'NCBI Gene Summary',NULL,2390,NULL,'The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20973,'NCBI Gene PubMed Count',NULL,2390,NULL,NULL,NULL,22,NULL,NULL,NULL),(20974,'NCBI Gene Summary',NULL,2391,NULL,'The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(20975,'NCBI Gene PubMed Count',NULL,2391,NULL,NULL,NULL,91,NULL,NULL,NULL),(20976,'NCBI Gene PubMed Count',NULL,2392,NULL,NULL,NULL,1,NULL,NULL,NULL),(20977,'NCBI Gene Summary',NULL,2393,NULL,'The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20978,'NCBI Gene PubMed Count',NULL,2393,NULL,NULL,NULL,62,NULL,NULL,NULL),(20979,'NCBI Gene Summary',NULL,2394,NULL,'The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(20980,'NCBI Gene PubMed Count',NULL,2394,NULL,NULL,NULL,69,NULL,NULL,NULL),(20981,'NCBI Gene Summary',NULL,2395,NULL,'The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(20982,'NCBI Gene PubMed Count',NULL,2395,NULL,NULL,NULL,19,NULL,NULL,NULL),(20983,'NCBI Gene Summary',NULL,2396,NULL,'Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20984,'NCBI Gene PubMed Count',NULL,2396,NULL,NULL,NULL,18,NULL,NULL,NULL),(20985,'NCBI Gene PubMed Count',NULL,2397,NULL,NULL,NULL,1,NULL,NULL,NULL),(20986,'NCBI Gene Summary',NULL,2398,NULL,'This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(20987,'NCBI Gene PubMed Count',NULL,2398,NULL,NULL,NULL,74,NULL,NULL,NULL),(20988,'NCBI Gene Summary',NULL,2399,NULL,'Three different forms of human pancreatic procarboxypeptidase A have been isolated. The encoded protein represents the A2 form, which is a monomeric protein with different biochemical properties from the A1 and A3 forms. The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues and is a secreted protein. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(20989,'NCBI Gene PubMed Count',NULL,2399,NULL,NULL,NULL,23,NULL,NULL,NULL),(20990,'NCBI Gene Summary',NULL,2400,NULL,'This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(20991,'NCBI Gene PubMed Count',NULL,2400,NULL,NULL,NULL,27,NULL,NULL,NULL),(20992,'NCBI Gene Summary',NULL,2401,NULL,'This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a \"dual-functional\" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(20993,'NCBI Gene PubMed Count',NULL,2401,NULL,NULL,NULL,16,NULL,NULL,NULL),(20994,'NCBI Gene PubMed Count',NULL,2402,NULL,NULL,NULL,2,NULL,NULL,NULL),(20995,'NCBI Gene PubMed Count',NULL,2403,NULL,NULL,NULL,7,NULL,NULL,NULL),(20996,'NCBI Gene PubMed Count',NULL,2404,NULL,NULL,NULL,12,NULL,NULL,NULL),(20997,'NCBI Gene PubMed Count',NULL,2405,NULL,NULL,NULL,3,NULL,NULL,NULL),(20998,'NCBI Gene PubMed Count',NULL,2407,NULL,NULL,NULL,3,NULL,NULL,NULL),(20999,'NCBI Gene PubMed Count',NULL,2408,NULL,NULL,NULL,15,NULL,NULL,NULL),(21000,'NCBI Gene Summary',NULL,2409,NULL,'Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(21001,'NCBI Gene PubMed Count',NULL,2409,NULL,NULL,NULL,8,NULL,NULL,NULL),(21002,'NCBI Gene Summary',NULL,2410,NULL,'This gene encodes a member of the gastrin/cholecystokinin family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the peptide hormones cholecystokinin-8, -12, -33, and others. The encoded peptides have been shown to regulate gastric acid secretion and food intake. A sulfated form of cholecystokinin-8 may modulate neuronal activity in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(21003,'NCBI Gene PubMed Count',NULL,2410,NULL,NULL,NULL,122,NULL,NULL,NULL),(21004,'NCBI Gene Summary',NULL,2411,NULL,'This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene is chemotactic for skin-associated memory T lymphocytes. This cytokine may also play a role in mediating homing of lymphocytes to cutaneous sites. It specifically binds to chemokine receptor 10 (CCR10). Studies of a similar murine protein indicate that these protein-receptor interactions have a pivotal role in T cell-mediated skin inflammation. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(21005,'NCBI Gene PubMed Count',NULL,2411,NULL,NULL,NULL,50,NULL,NULL,NULL),(21006,'NCBI Gene PubMed Count',NULL,2412,NULL,NULL,NULL,4,NULL,NULL,NULL),(21007,'NCBI Gene PubMed Count',NULL,2413,NULL,NULL,NULL,8,NULL,NULL,NULL),(21008,'NCBI Gene PubMed Count',NULL,2414,NULL,NULL,NULL,5,NULL,NULL,NULL),(21009,'NCBI Gene Summary',NULL,2415,NULL,'This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21010,'NCBI Gene PubMed Count',NULL,2415,NULL,NULL,NULL,27,NULL,NULL,NULL),(21011,'NCBI Gene PubMed Count',NULL,2416,NULL,NULL,NULL,4,NULL,NULL,NULL),(21012,'NCBI Gene Summary',NULL,2417,NULL,'This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21013,'NCBI Gene PubMed Count',NULL,2417,NULL,NULL,NULL,171,NULL,NULL,NULL),(21014,'NCBI Gene Summary',NULL,2418,NULL,'This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(21015,'NCBI Gene PubMed Count',NULL,2418,NULL,NULL,NULL,106,NULL,NULL,NULL),(21016,'NCBI Gene Summary',NULL,2419,NULL,'This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21017,'NCBI Gene PubMed Count',NULL,2419,NULL,NULL,NULL,61,NULL,NULL,NULL),(21018,'NCBI Gene PubMed Count',NULL,2420,NULL,NULL,NULL,47,NULL,NULL,NULL),(21019,'NCBI Gene Summary',NULL,2421,NULL,'This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21020,'NCBI Gene PubMed Count',NULL,2421,NULL,NULL,NULL,20,NULL,NULL,NULL),(21021,'NCBI Gene PubMed Count',NULL,2422,NULL,NULL,NULL,7,NULL,NULL,NULL),(21022,'NCBI Gene Summary',NULL,2423,NULL,'The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(21023,'NCBI Gene PubMed Count',NULL,2423,NULL,NULL,NULL,721,NULL,NULL,NULL),(21024,'NCBI Gene Summary',NULL,2424,NULL,'This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. An allelic polymorphism in this gene results in both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(21025,'NCBI Gene PubMed Count',NULL,2424,NULL,NULL,NULL,993,NULL,NULL,NULL),(21026,'NCBI Gene Summary',NULL,2425,NULL,'This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(21027,'NCBI Gene PubMed Count',NULL,2425,NULL,NULL,NULL,58,NULL,NULL,NULL),(21028,'NCBI Gene Summary',NULL,2426,NULL,'This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Many alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(21029,'NCBI Gene PubMed Count',NULL,2426,NULL,NULL,NULL,34,NULL,NULL,NULL),(21030,'NCBI Gene Summary',NULL,2427,NULL,'This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(21031,'NCBI Gene PubMed Count',NULL,2427,NULL,NULL,NULL,32,NULL,NULL,NULL),(21032,'NCBI Gene PubMed Count',NULL,2428,NULL,NULL,NULL,8,NULL,NULL,NULL),(21033,'NCBI Gene Summary',NULL,2429,NULL,'The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21034,'NCBI Gene PubMed Count',NULL,2429,NULL,NULL,NULL,77,NULL,NULL,NULL),(21035,'NCBI Gene Summary',NULL,2430,NULL,'This gene encodes a glycosyl-phosphatidylinositol (GPI)-linked cell surface glycoprotein that plays a role in neutrophil activation. The protein can bind platelet endothelial cell adhesion molecule-1 and function in neutrophil transmigration. Mutations in this gene are associated with myeloproliferative diseases. Over-expression of this gene has been found in patients with polycythemia rubra vera. Autoantibodies against the protein may result in pulmonary transfusion reactions, and it may be involved in Wegener\'s granulomatosis. A related pseudogene, which is adjacent to this gene on chromosome 19, has been identified. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(21036,'NCBI Gene PubMed Count',NULL,2430,NULL,NULL,NULL,79,NULL,NULL,NULL),(21037,'NCBI Gene Summary',NULL,2431,NULL,'This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(21038,'NCBI Gene PubMed Count',NULL,2431,NULL,NULL,NULL,27,NULL,NULL,NULL),(21039,'NCBI Gene PubMed Count',NULL,2432,NULL,NULL,NULL,90,NULL,NULL,NULL),(21040,'NCBI Gene Summary',NULL,2433,NULL,'The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21041,'NCBI Gene PubMed Count',NULL,2433,NULL,NULL,NULL,22,NULL,NULL,NULL),(21042,'NCBI Gene Summary',NULL,2434,NULL,'The protein encoded by this gene is a cell surface glycoprotein involved in leukocyte migration, T-cell adhesion, ganglioside GM1 and transmembrane protein transport, and T-cell death by a caspase-independent pathway. In addition, the encoded protein may have the ability to rearrange the actin cytoskeleton and may also act as an oncosuppressor in osteosarcoma. This gene is found in the pseudoautosomal region of chromosomes X and Y and escapes X-chromosome inactivation. There is a related pseudogene located immediately adjacent to this locus. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(21043,'NCBI Gene PubMed Count',NULL,2434,NULL,NULL,NULL,105,NULL,NULL,NULL),(21044,'NCBI Gene Summary',NULL,2435,NULL,'The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(21045,'NCBI Gene PubMed Count',NULL,2435,NULL,NULL,NULL,90,NULL,NULL,NULL),(21046,'NCBI Gene PubMed Count',NULL,2436,NULL,NULL,NULL,39,NULL,NULL,NULL),(21047,'NCBI Gene Summary',NULL,2437,NULL,'The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(21048,'NCBI Gene PubMed Count',NULL,2437,NULL,NULL,NULL,51,NULL,NULL,NULL),(21049,'NCBI Gene PubMed Count',NULL,2438,NULL,NULL,NULL,7,NULL,NULL,NULL),(21050,'NCBI Gene Summary',NULL,2439,NULL,'This gene encodes a preproprotein that is proteolytically processed to generate multiple biologically active peptides. These peptides play a role in appetite, energy balance, maintenance of body weight, reward and addiction, and the stress response. Expression of a similar gene transcript in rodents is upregulated following administration of cocaine and amphetamine. Mutations in this gene are associated with susceptibility to obesity in humans. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(21051,'NCBI Gene PubMed Count',NULL,2439,NULL,NULL,NULL,73,NULL,NULL,NULL),(21052,'NCBI Gene PubMed Count',NULL,2440,NULL,NULL,NULL,5,NULL,NULL,NULL),(21053,'NCBI Gene Summary',NULL,2441,NULL,'CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein.  The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21054,'NCBI Gene PubMed Count',NULL,2441,NULL,NULL,NULL,37,NULL,NULL,NULL),(21055,'NCBI Gene Summary',NULL,2442,NULL,'This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(21056,'NCBI Gene PubMed Count',NULL,2442,NULL,NULL,NULL,87,NULL,NULL,NULL),(21057,'NCBI Gene PubMed Count',NULL,2443,NULL,NULL,NULL,5,NULL,NULL,NULL),(21058,'NCBI Gene PubMed Count',NULL,2444,NULL,NULL,NULL,19,NULL,NULL,NULL),(21059,'NCBI Gene PubMed Count',NULL,2445,NULL,NULL,NULL,0,NULL,NULL,NULL),(21060,'NCBI Gene PubMed Count',NULL,2446,NULL,NULL,NULL,0,NULL,NULL,NULL),(21061,'NCBI Gene PubMed Count',NULL,2447,NULL,NULL,NULL,2,NULL,NULL,NULL),(21062,'NCBI Gene PubMed Count',NULL,2448,NULL,NULL,NULL,13,NULL,NULL,NULL),(21063,'NCBI Gene PubMed Count',NULL,2449,NULL,NULL,NULL,10,NULL,NULL,NULL),(21064,'NCBI Gene Summary',NULL,2450,NULL,'This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(21065,'NCBI Gene PubMed Count',NULL,2450,NULL,NULL,NULL,11,NULL,NULL,NULL),(21066,'NCBI Gene Summary',NULL,2451,NULL,'This gene encodes a protein that contains a coiled-coil domain. Naturally occurring mutations in this gene are associated with leprosy. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(21067,'NCBI Gene PubMed Count',NULL,2451,NULL,NULL,NULL,11,NULL,NULL,NULL),(21068,'NCBI Gene PubMed Count',NULL,2452,NULL,NULL,NULL,7,NULL,NULL,NULL),(21069,'NCBI Gene PubMed Count',NULL,2453,NULL,NULL,NULL,5,NULL,NULL,NULL),(21070,'NCBI Gene Summary',NULL,2454,NULL,'This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acute leukemias. The resulting fusion gene produces a nucleoporin 98-coiled-coil domain-containing protein 28A chimeric protein which may be involved in promoting myeloproliferative neoplasms. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(21071,'NCBI Gene PubMed Count',NULL,2454,NULL,NULL,NULL,6,NULL,NULL,NULL),(21072,'NCBI Gene PubMed Count',NULL,2455,NULL,NULL,NULL,5,NULL,NULL,NULL),(21073,'NCBI Gene PubMed Count',NULL,2456,NULL,NULL,NULL,6,NULL,NULL,NULL),(21074,'NCBI Gene PubMed Count',NULL,2457,NULL,NULL,NULL,8,NULL,NULL,NULL),(21075,'NCBI Gene Summary',NULL,2458,NULL,'This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(21076,'NCBI Gene PubMed Count',NULL,2458,NULL,NULL,NULL,45,NULL,NULL,NULL),(21077,'NCBI Gene Summary',NULL,2459,NULL,'This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(21078,'NCBI Gene PubMed Count',NULL,2459,NULL,NULL,NULL,16,NULL,NULL,NULL),(21079,'NCBI Gene Summary',NULL,2460,NULL,'The protein encoded by this gene belongs to the highly conserved cyclin family, whose members function as regulators of the cell cycle. This protein binds and activates cyclin-dependent kinase 2 and thus promotes transition through G1/S and G2/M. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(21080,'NCBI Gene PubMed Count',NULL,2460,NULL,NULL,NULL,205,NULL,NULL,NULL),(21081,'NCBI Gene Summary',NULL,2461,NULL,'This gene is located in a cluster of similar genes in the same region of chromosome 17. These genes encode CC cytokines, which are secreted proteins characterized by two adjacent cysteines. The product of this gene is chemotactic for T cells and monocytes, and acts through C-C chemokine receptor type 1 (CCR1). The proprotein is further processed into numerous smaller functional peptides. Naturally-occurring readthrough transcripts occur from this gene into the downstream gene, CCL14 (chemokine (C-C motif) ligand 14). [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(21082,'NCBI Gene PubMed Count',NULL,2461,NULL,NULL,NULL,53,NULL,NULL,NULL),(21083,'NCBI Gene Summary',NULL,2462,NULL,'This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(21084,'NCBI Gene PubMed Count',NULL,2462,NULL,NULL,NULL,120,NULL,NULL,NULL),(21085,'NCBI Gene Summary',NULL,2463,NULL,'The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21086,'NCBI Gene PubMed Count',NULL,2463,NULL,NULL,NULL,25,NULL,NULL,NULL),(21087,'NCBI Gene PubMed Count',NULL,2464,NULL,NULL,NULL,6,NULL,NULL,NULL),(21088,'NCBI Gene PubMed Count',NULL,2465,NULL,NULL,NULL,7,NULL,NULL,NULL),(21089,'NCBI Gene PubMed Count',NULL,2466,NULL,NULL,NULL,3,NULL,NULL,NULL),(21090,'NCBI Gene PubMed Count',NULL,2467,NULL,NULL,NULL,7,NULL,NULL,NULL),(21091,'NCBI Gene PubMed Count',NULL,2468,NULL,NULL,NULL,3,NULL,NULL,NULL),(21092,'NCBI Gene PubMed Count',NULL,2469,NULL,NULL,NULL,10,NULL,NULL,NULL),(21093,'NCBI Gene Summary',NULL,2470,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21094,'NCBI Gene PubMed Count',NULL,2470,NULL,NULL,NULL,130,NULL,NULL,NULL),(21095,'NCBI Gene Summary',NULL,2471,NULL,'The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(21096,'NCBI Gene PubMed Count',NULL,2471,NULL,NULL,NULL,159,NULL,NULL,NULL),(21097,'NCBI Gene Summary',NULL,2472,NULL,'The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21098,'NCBI Gene PubMed Count',NULL,2472,NULL,NULL,NULL,201,NULL,NULL,NULL),(21099,'NCBI Gene Summary',NULL,2473,NULL,'This gene encodes a membrane glycoprotein of T lymphocytes that interacts with major histocompatibility complex class II antigenes and is also a receptor for the human immunodeficiency virus. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, and granulocytes. It is also expressed in specific regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(21100,'NCBI Gene PubMed Count',NULL,2473,NULL,NULL,NULL,411,NULL,NULL,NULL),(21101,'NCBI Gene PubMed Count',NULL,2474,NULL,NULL,NULL,3,NULL,NULL,NULL),(21102,'NCBI Gene PubMed Count',NULL,2475,NULL,NULL,NULL,6,NULL,NULL,NULL),(21103,'NCBI Gene Summary',NULL,2476,NULL,'The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(21104,'NCBI Gene PubMed Count',NULL,2476,NULL,NULL,NULL,29,NULL,NULL,NULL),(21105,'NCBI Gene PubMed Count',NULL,2477,NULL,NULL,NULL,25,NULL,NULL,NULL),(21106,'NCBI Gene PubMed Count',NULL,2478,NULL,NULL,NULL,10,NULL,NULL,NULL),(21107,'NCBI Gene Summary',NULL,2479,NULL,'This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(21108,'NCBI Gene PubMed Count',NULL,2479,NULL,NULL,NULL,45,NULL,NULL,NULL),(21109,'NCBI Gene PubMed Count',NULL,2480,NULL,NULL,NULL,4,NULL,NULL,NULL),(21110,'NCBI Gene Summary',NULL,2481,NULL,'The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(21111,'NCBI Gene PubMed Count',NULL,2481,NULL,NULL,NULL,7,NULL,NULL,NULL),(21112,'NCBI Gene Summary',NULL,2482,NULL,'This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(21113,'NCBI Gene PubMed Count',NULL,2482,NULL,NULL,NULL,60,NULL,NULL,NULL),(21114,'NCBI Gene Summary',NULL,2483,NULL,'This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(21115,'NCBI Gene PubMed Count',NULL,2483,NULL,NULL,NULL,182,NULL,NULL,NULL),(21116,'NCBI Gene Summary',NULL,2484,NULL,'This gene encodes a member of the cyclin protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. Alternative splicing results in multiple transcript variants. This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene\'s product as a cyclin protein family member. The UNG2 symbol is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(21117,'NCBI Gene PubMed Count',NULL,2484,NULL,NULL,NULL,12,NULL,NULL,NULL),(21118,'NCBI Gene Summary',NULL,2485,NULL,'This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(21119,'NCBI Gene PubMed Count',NULL,2485,NULL,NULL,NULL,193,NULL,NULL,NULL),(21120,'NCBI Gene Summary',NULL,2486,NULL,'This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21121,'NCBI Gene PubMed Count',NULL,2486,NULL,NULL,NULL,36,NULL,NULL,NULL),(21122,'NCBI Gene Summary',NULL,2487,NULL,'The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21123,'NCBI Gene PubMed Count',NULL,2487,NULL,NULL,NULL,43,NULL,NULL,NULL),(21124,'NCBI Gene Summary',NULL,2488,NULL,'This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21125,'NCBI Gene PubMed Count',NULL,2488,NULL,NULL,NULL,135,NULL,NULL,NULL),(21126,'NCBI Gene Summary',NULL,2489,NULL,'This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21127,'NCBI Gene PubMed Count',NULL,2489,NULL,NULL,NULL,51,NULL,NULL,NULL),(21128,'NCBI Gene Summary',NULL,2490,NULL,'This gene is expressed in neuroblastoma; however, the function of this gene is not yet determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21129,'NCBI Gene PubMed Count',NULL,2490,NULL,NULL,NULL,6,NULL,NULL,NULL),(21130,'NCBI Gene PubMed Count',NULL,2491,NULL,NULL,NULL,4,NULL,NULL,NULL),(21131,'NCBI Gene PubMed Count',NULL,2492,NULL,NULL,NULL,4,NULL,NULL,NULL),(21132,'NCBI Gene PubMed Count',NULL,2493,NULL,NULL,NULL,1,NULL,NULL,NULL),(21133,'NCBI Gene Summary',NULL,2494,NULL,'The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family of cyclin-dependent kinase activating proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21134,'NCBI Gene PubMed Count',NULL,2494,NULL,NULL,NULL,17,NULL,NULL,NULL),(21135,'NCBI Gene Summary',NULL,2495,NULL,'The protein encoded by this gene functions as a protein ubiquitin ligase and is a component of the multiprotein APC complex. The APC complex is a cyclin degradation system that governs exit from mitosis by targeting cell cycle proteins for degredation by the 26S proteasome. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein, and other APC complex proteins, contain a tetratricopeptide repeat (TPR) domain; a protein domain that is often involved in protein-protein interactions and the assembly of multiprotein complexes. Multiple alternatively spliced transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(21136,'NCBI Gene PubMed Count',NULL,2495,NULL,NULL,NULL,42,NULL,NULL,NULL),(21137,'NCBI Gene Summary',NULL,2496,NULL,'This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(21138,'NCBI Gene PubMed Count',NULL,2496,NULL,NULL,NULL,170,NULL,NULL,NULL),(21139,'NCBI Gene Summary',NULL,2497,NULL,'The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21140,'NCBI Gene PubMed Count',NULL,2497,NULL,NULL,NULL,62,NULL,NULL,NULL),(21141,'NCBI Gene Summary',NULL,2498,NULL,'PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(21142,'NCBI Gene PubMed Count',NULL,2498,NULL,NULL,NULL,48,NULL,NULL,NULL),(21143,'NCBI Gene Summary',NULL,2499,NULL,'The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(21144,'NCBI Gene PubMed Count',NULL,2499,NULL,NULL,NULL,37,NULL,NULL,NULL),(21145,'NCBI Gene Summary',NULL,2500,NULL,'This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(21146,'NCBI Gene PubMed Count',NULL,2500,NULL,NULL,NULL,25,NULL,NULL,NULL),(21147,'NCBI Gene Summary',NULL,2501,NULL,'This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(21148,'NCBI Gene PubMed Count',NULL,2501,NULL,NULL,NULL,224,NULL,NULL,NULL),(21149,'NCBI Gene Summary',NULL,2502,NULL,'The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21150,'NCBI Gene PubMed Count',NULL,2502,NULL,NULL,NULL,74,NULL,NULL,NULL),(21151,'NCBI Gene Summary',NULL,2503,NULL,'This gene encodes a member of the family of carcinoembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(21152,'NCBI Gene PubMed Count',NULL,2503,NULL,NULL,NULL,38,NULL,NULL,NULL),(21153,'NCBI Gene PubMed Count',NULL,2504,NULL,NULL,NULL,2,NULL,NULL,NULL),(21154,'NCBI Gene PubMed Count',NULL,2505,NULL,NULL,NULL,5,NULL,NULL,NULL),(21155,'NCBI Gene Summary',NULL,2506,NULL,'The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(21156,'NCBI Gene PubMed Count',NULL,2506,NULL,NULL,NULL,30,NULL,NULL,NULL),(21157,'NCBI Gene Summary',NULL,2507,NULL,'Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(21158,'NCBI Gene PubMed Count',NULL,2507,NULL,NULL,NULL,72,NULL,NULL,NULL),(21159,'NCBI Gene Summary',NULL,2508,NULL,'The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21160,'NCBI Gene PubMed Count',NULL,2508,NULL,NULL,NULL,10,NULL,NULL,NULL),(21161,'NCBI Gene Summary',NULL,2509,NULL,'This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(21162,'NCBI Gene PubMed Count',NULL,2509,NULL,NULL,NULL,12,NULL,NULL,NULL),(21163,'NCBI Gene Summary',NULL,2510,NULL,'This gene encodes a centromere protein that is a component of the CENPA-NAC (nucleosome-associated) complex. This complex is critical for accurate chromosome alignment and segregation and it ensures proper mitotic progression. This protein regulates the recruitment of kinetochore-associated proteins that are required to generate the spindle checkpoint signal. The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. Mutations in this gene may be involved in human X-linked disorders of gonadal development and gametogenesis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(21164,'NCBI Gene PubMed Count',NULL,2510,NULL,NULL,NULL,20,NULL,NULL,NULL),(21165,'NCBI Gene Summary',NULL,2511,NULL,'This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(21166,'NCBI Gene PubMed Count',NULL,2511,NULL,NULL,NULL,22,NULL,NULL,NULL),(21167,'NCBI Gene Summary',NULL,2512,NULL,'This locus represents naturally occurring read-through transcription between the neighboring APITD1 (apoptosis-inducing, TAF9-like domain 1) and CORT (cortistatin) genes. Alternative splicing results in multiple transcript variants, two of which encode fusion proteins that share sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(21168,'NCBI Gene PubMed Count',NULL,2512,NULL,NULL,NULL,4,NULL,NULL,NULL),(21169,'NCBI Gene Summary',NULL,2513,NULL,'This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(21170,'NCBI Gene PubMed Count',NULL,2513,NULL,NULL,NULL,18,NULL,NULL,NULL),(21171,'NCBI Gene PubMed Count',NULL,2514,NULL,NULL,NULL,17,NULL,NULL,NULL),(21172,'NCBI Gene PubMed Count',NULL,2515,NULL,NULL,NULL,37,NULL,NULL,NULL),(21173,'NCBI Gene PubMed Count',NULL,2516,NULL,NULL,NULL,6,NULL,NULL,NULL),(21174,'NCBI Gene PubMed Count',NULL,2517,NULL,NULL,NULL,6,NULL,NULL,NULL),(21175,'NCBI Gene PubMed Count',NULL,2518,NULL,NULL,NULL,10,NULL,NULL,NULL),(21176,'NCBI Gene PubMed Count',NULL,2519,NULL,NULL,NULL,7,NULL,NULL,NULL),(21177,'NCBI Gene PubMed Count',NULL,2520,NULL,NULL,NULL,2,NULL,NULL,NULL),(21178,'NCBI Gene PubMed Count',NULL,2521,NULL,NULL,NULL,2,NULL,NULL,NULL),(21179,'NCBI Gene PubMed Count',NULL,2522,NULL,NULL,NULL,9,NULL,NULL,NULL),(21180,'NCBI Gene PubMed Count',NULL,2523,NULL,NULL,NULL,3,NULL,NULL,NULL),(21181,'NCBI Gene Summary',NULL,2524,NULL,'This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(21182,'NCBI Gene PubMed Count',NULL,2524,NULL,NULL,NULL,111,NULL,NULL,NULL),(21183,'NCBI Gene PubMed Count',NULL,2525,NULL,NULL,NULL,12,NULL,NULL,NULL),(21184,'NCBI Gene Summary',NULL,2526,NULL,'This gene represents a retrogene of cell division cycle 14B (CDC14B), which is located on chromosome 9. The introns in the coding sequence have been processed out relative to the CDC14B locus, but there is an intact open reading frame that is missing only some sequence at the N-terminus, including the nuclear localiztion signal, relative to proteins encoded by the CDC14B gene. There is a difference in the subcellular localization of the protein encoded by this gene, relative to its parental gene product. While the parental gene product displays microtubular localization, GFP chimeras of the protein encoded by this gene localize to the endoplasmic reticulum, indicating a possible new functional role for this gene. [provided by RefSeq, Nov 2017]',NULL,NULL,NULL,NULL,NULL),(21185,'NCBI Gene PubMed Count',NULL,2526,NULL,NULL,NULL,6,NULL,NULL,NULL),(21186,'NCBI Gene PubMed Count',NULL,2527,NULL,NULL,NULL,10,NULL,NULL,NULL),(21187,'NCBI Gene PubMed Count',NULL,2528,NULL,NULL,NULL,5,NULL,NULL,NULL),(21188,'NCBI Gene PubMed Count',NULL,2529,NULL,NULL,NULL,3,NULL,NULL,NULL),(21189,'NCBI Gene Summary',NULL,2530,NULL,'This gene encodes a protein that appears to be restricted to select higher primate species. This protein contains a C-terminal coiled-coil domain, which is a versatile structural motif consisting of multiple amphipathic alpha-helices that twist around each other to form a supercoil. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(21190,'NCBI Gene PubMed Count',NULL,2530,NULL,NULL,NULL,6,NULL,NULL,NULL),(21191,'NCBI Gene PubMed Count',NULL,2531,NULL,NULL,NULL,6,NULL,NULL,NULL),(21192,'NCBI Gene PubMed Count',NULL,2532,NULL,NULL,NULL,8,NULL,NULL,NULL),(21193,'NCBI Gene PubMed Count',NULL,2533,NULL,NULL,NULL,9,NULL,NULL,NULL),(21194,'NCBI Gene Summary',NULL,2535,NULL,'The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(21195,'NCBI Gene PubMed Count',NULL,2535,NULL,NULL,NULL,9,NULL,NULL,NULL),(21196,'NCBI Gene PubMed Count',NULL,2536,NULL,NULL,NULL,6,NULL,NULL,NULL),(21197,'NCBI Gene PubMed Count',NULL,2537,NULL,NULL,NULL,14,NULL,NULL,NULL),(21198,'NCBI Gene PubMed Count',NULL,2538,NULL,NULL,NULL,12,NULL,NULL,NULL),(21199,'NCBI Gene Summary',NULL,2539,NULL,'The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(21200,'NCBI Gene PubMed Count',NULL,2539,NULL,NULL,NULL,11,NULL,NULL,NULL),(21201,'NCBI Gene Summary',NULL,2540,NULL,'The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21202,'NCBI Gene PubMed Count',NULL,2540,NULL,NULL,NULL,1361,NULL,NULL,NULL),(21203,'NCBI Gene PubMed Count',NULL,2541,NULL,NULL,NULL,73,NULL,NULL,NULL),(21204,'NCBI Gene Summary',NULL,2542,NULL,'This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(21205,'NCBI Gene PubMed Count',NULL,2542,NULL,NULL,NULL,55,NULL,NULL,NULL),(21206,'NCBI Gene Summary',NULL,2543,NULL,'This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(21207,'NCBI Gene PubMed Count',NULL,2543,NULL,NULL,NULL,184,NULL,NULL,NULL),(21208,'NCBI Gene Summary',NULL,2544,NULL,'This gene encodes a protein that belongs to the E2F family of transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulation of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(21209,'NCBI Gene PubMed Count',NULL,2544,NULL,NULL,NULL,13,NULL,NULL,NULL),(21210,'NCBI Gene Summary',NULL,2545,NULL,'This gene product is a member of a large family of CDC2-related serine/threonine protein kinases that accumulates primarily in the nucleus. [provided by RefSeq, Nov 2018]',NULL,NULL,NULL,NULL,NULL),(21211,'NCBI Gene PubMed Count',NULL,2545,NULL,NULL,NULL,15,NULL,NULL,NULL),(21212,'NCBI Gene Summary',NULL,2546,NULL,'The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer\'s disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer\'s disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21213,'NCBI Gene PubMed Count',NULL,2546,NULL,NULL,NULL,86,NULL,NULL,NULL),(21214,'NCBI Gene PubMed Count',NULL,2547,NULL,NULL,NULL,12,NULL,NULL,NULL),(21215,'NCBI Gene Summary',NULL,2548,NULL,'Autoantibodies directed against the protein encoded by this intronless gene have been found in some patients with paraneoplastic cerebellar degeneration. The encoded protein contains several hexapeptide repeats. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(21216,'NCBI Gene PubMed Count',NULL,2548,NULL,NULL,NULL,12,NULL,NULL,NULL),(21217,'NCBI Gene PubMed Count',NULL,2549,NULL,NULL,NULL,8,NULL,NULL,NULL),(21218,'NCBI Gene PubMed Count',NULL,2550,NULL,NULL,NULL,8,NULL,NULL,NULL),(21219,'NCBI Gene Summary',NULL,2551,NULL,'This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21220,'NCBI Gene PubMed Count',NULL,2551,NULL,NULL,NULL,12,NULL,NULL,NULL),(21221,'NCBI Gene PubMed Count',NULL,2552,NULL,NULL,NULL,5,NULL,NULL,NULL),(21222,'NCBI Gene PubMed Count',NULL,2553,NULL,NULL,NULL,14,NULL,NULL,NULL),(21223,'NCBI Gene PubMed Count',NULL,2554,NULL,NULL,NULL,12,NULL,NULL,NULL),(21224,'NCBI Gene PubMed Count',NULL,2555,NULL,NULL,NULL,6,NULL,NULL,NULL),(21225,'NCBI Gene PubMed Count',NULL,2556,NULL,NULL,NULL,2,NULL,NULL,NULL),(21226,'NCBI Gene PubMed Count',NULL,2557,NULL,NULL,NULL,3,NULL,NULL,NULL),(21227,'NCBI Gene PubMed Count',NULL,2558,NULL,NULL,NULL,32,NULL,NULL,NULL),(21228,'NCBI Gene Summary',NULL,2559,NULL,'This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(21229,'NCBI Gene PubMed Count',NULL,2559,NULL,NULL,NULL,18,NULL,NULL,NULL),(21230,'NCBI Gene Summary',NULL,2560,NULL,'Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2B is secreted from the pancreas as a zymogen. In other species, elastase 2B has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21231,'NCBI Gene PubMed Count',NULL,2560,NULL,NULL,NULL,9,NULL,NULL,NULL),(21232,'NCBI Gene Summary',NULL,2561,NULL,'Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(21233,'NCBI Gene PubMed Count',NULL,2561,NULL,NULL,NULL,12,NULL,NULL,NULL),(21234,'NCBI Gene Summary',NULL,2562,NULL,'This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21235,'NCBI Gene PubMed Count',NULL,2562,NULL,NULL,NULL,46,NULL,NULL,NULL),(21236,'NCBI Gene PubMed Count',NULL,2563,NULL,NULL,NULL,13,NULL,NULL,NULL),(21237,'NCBI Gene PubMed Count',NULL,2564,NULL,NULL,NULL,9,NULL,NULL,NULL),(21238,'NCBI Gene Summary',NULL,2565,NULL,'The protein encoded by this gene is an inner protein of the kinetochore, the multi-protein complex that binds spindle microtubules to regulate chromosome segregation during cell division. It belongs to the constitutive centromere-associated network protein group, whose members interact with outer kinetochore proteins and help to maintain centromere identity at each cell division cycle. The protein is structurally related to GTPases but cannot bind guanosine triphosphate. A point mutation that affects interaction with another constitutive centromere-associated network protein, CENP-I, impairs kinetochore assembly and chromosome alignment, suggesting that it is required for kinetochore formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(21239,'NCBI Gene PubMed Count',NULL,2565,NULL,NULL,NULL,18,NULL,NULL,NULL),(21240,'NCBI Gene Summary',NULL,2566,NULL,'The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(21241,'NCBI Gene PubMed Count',NULL,2566,NULL,NULL,NULL,176,NULL,NULL,NULL),(21242,'NCBI Gene PubMed Count',NULL,2567,NULL,NULL,NULL,16,NULL,NULL,NULL),(21243,'NCBI Gene Summary',NULL,2568,NULL,'This gene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like gene through the DAZ-like repeats. This protein also interacts with the transforming growth factor-beta signaling molecule SARA (Smad anchor for receptor activation), eukaryotic initiation factor 4G, and an E3 ubiquitinase that regulates its stability in splicing factor containing nuclear speckles. The encoded protein may function in various biological and pathological processes including spermatogenesis, cell signaling and transcription regulation, formation of stress granules during translation arrest, RNA splicing, and pathogenesis of multiple myeloma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(21244,'NCBI Gene PubMed Count',NULL,2568,NULL,NULL,NULL,25,NULL,NULL,NULL),(21245,'NCBI Gene Summary',NULL,2569,NULL,'Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(21246,'NCBI Gene PubMed Count',NULL,2569,NULL,NULL,NULL,3,NULL,NULL,NULL),(21247,'NCBI Gene Summary',NULL,2570,NULL,'Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(21248,'NCBI Gene PubMed Count',NULL,2570,NULL,NULL,NULL,3,NULL,NULL,NULL),(21249,'NCBI Gene Summary',NULL,2571,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(21250,'NCBI Gene PubMed Count',NULL,2571,NULL,NULL,NULL,16,NULL,NULL,NULL),(21251,'NCBI Gene Summary',NULL,2572,NULL,'This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(21252,'NCBI Gene PubMed Count',NULL,2572,NULL,NULL,NULL,178,NULL,NULL,NULL),(21253,'NCBI Gene Summary',NULL,2573,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(21254,'NCBI Gene PubMed Count',NULL,2573,NULL,NULL,NULL,2,NULL,NULL,NULL),(21255,'NCBI Gene Summary',NULL,2574,NULL,'This gene encodes a member of the doublecortin family. The protein encoded by this gene is a hydrophilic, intracellular protein. It contains a single doublecortin domain and is unable to bind microtubules and to regulate microtubule polymerization. This gene is mainly expressed in adult testis. It does not have a mouse homolog. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(21256,'NCBI Gene PubMed Count',NULL,2574,NULL,NULL,NULL,16,NULL,NULL,NULL),(21257,'NCBI Gene PubMed Count',NULL,2575,NULL,NULL,NULL,6,NULL,NULL,NULL),(21258,'NCBI Gene PubMed Count',NULL,2576,NULL,NULL,NULL,8,NULL,NULL,NULL),(21259,'NCBI Gene PubMed Count',NULL,2577,NULL,NULL,NULL,12,NULL,NULL,NULL),(21260,'NCBI Gene Summary',NULL,2578,NULL,'This gene encodes a dimethylarginine dimethylaminohydrolase. The encoded enzyme functions in nitric oxide generation by regulating the cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. The protein may be localized to the mitochondria. Alternative splicing resulting in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(21261,'NCBI Gene PubMed Count',NULL,2578,NULL,NULL,NULL,68,NULL,NULL,NULL),(21262,'NCBI Gene Summary',NULL,2579,NULL,'The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(21263,'NCBI Gene PubMed Count',NULL,2579,NULL,NULL,NULL,124,NULL,NULL,NULL),(21264,'NCBI Gene Summary',NULL,2580,NULL,'Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(21265,'NCBI Gene PubMed Count',NULL,2580,NULL,NULL,NULL,126,NULL,NULL,NULL),(21266,'NCBI Gene PubMed Count',NULL,2581,NULL,NULL,NULL,5,NULL,NULL,NULL),(21267,'NCBI Gene Summary',NULL,2582,NULL,'This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(21268,'NCBI Gene PubMed Count',NULL,2582,NULL,NULL,NULL,33,NULL,NULL,NULL),(21269,'NCBI Gene Summary',NULL,2583,NULL,'Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(21270,'NCBI Gene PubMed Count',NULL,2583,NULL,NULL,NULL,31,NULL,NULL,NULL),(21271,'NCBI Gene Summary',NULL,2584,NULL,'The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(21272,'NCBI Gene PubMed Count',NULL,2584,NULL,NULL,NULL,29,NULL,NULL,NULL),(21273,'NCBI Gene PubMed Count',NULL,2585,NULL,NULL,NULL,10,NULL,NULL,NULL),(21274,'NCBI Gene Summary',NULL,2586,NULL,'This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(21275,'NCBI Gene PubMed Count',NULL,2586,NULL,NULL,NULL,128,NULL,NULL,NULL),(21276,'NCBI Gene Summary',NULL,2587,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(21277,'NCBI Gene PubMed Count',NULL,2587,NULL,NULL,NULL,5,NULL,NULL,NULL),(21278,'NCBI Gene PubMed Count',NULL,2588,NULL,NULL,NULL,6,NULL,NULL,NULL),(21279,'NCBI Gene Summary',NULL,2589,NULL,'CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(21280,'NCBI Gene PubMed Count',NULL,2589,NULL,NULL,NULL,12,NULL,NULL,NULL),(21281,'NCBI Gene Summary',NULL,2590,NULL,'This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(21282,'NCBI Gene PubMed Count',NULL,2590,NULL,NULL,NULL,86,NULL,NULL,NULL),(21283,'NCBI Gene PubMed Count',NULL,2591,NULL,NULL,NULL,10,NULL,NULL,NULL),(21284,'NCBI Gene PubMed Count',NULL,2592,NULL,NULL,NULL,15,NULL,NULL,NULL),(21285,'NCBI Gene Summary',NULL,2593,NULL,'The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-&#954;B activity. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(21286,'NCBI Gene PubMed Count',NULL,2593,NULL,NULL,NULL,21,NULL,NULL,NULL),(21287,'NCBI Gene PubMed Count',NULL,2594,NULL,NULL,NULL,9,NULL,NULL,NULL),(21288,'NCBI Gene Summary',NULL,2595,NULL,'This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(21289,'NCBI Gene PubMed Count',NULL,2595,NULL,NULL,NULL,13,NULL,NULL,NULL),(21290,'NCBI Gene Summary',NULL,2596,NULL,'The protein encoded by this gene functions as a guanine nucleotide exchange factor for the early endosomal small GTPase RAB35, which regulates endosomal membrane trafficking and is involved in actin polymerization. The encoded protein activates RAB35 by promoting the exchange of RAB35-bound GDP for GTP. This gene may play a role in linking RAB35 activation with the clathrin machinery. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(21291,'NCBI Gene PubMed Count',NULL,2596,NULL,NULL,NULL,8,NULL,NULL,NULL),(21292,'NCBI Gene PubMed Count',NULL,2597,NULL,NULL,NULL,14,NULL,NULL,NULL),(21293,'NCBI Gene Summary',NULL,2598,NULL,'This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(21294,'NCBI Gene PubMed Count',NULL,2598,NULL,NULL,NULL,28,NULL,NULL,NULL),(21295,'NCBI Gene Summary',NULL,2599,NULL,'This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(21296,'NCBI Gene PubMed Count',NULL,2599,NULL,NULL,NULL,4,NULL,NULL,NULL),(21297,'NCBI Gene Summary',NULL,2600,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21298,'NCBI Gene PubMed Count',NULL,2600,NULL,NULL,NULL,13,NULL,NULL,NULL),(21299,'NCBI Gene PubMed Count',NULL,2601,NULL,NULL,NULL,26,NULL,NULL,NULL),(21300,'NCBI Gene PubMed Count',NULL,2602,NULL,NULL,NULL,36,NULL,NULL,NULL),(21301,'NCBI Gene Summary',NULL,2603,NULL,'This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(21302,'NCBI Gene PubMed Count',NULL,2603,NULL,NULL,NULL,18,NULL,NULL,NULL),(21303,'NCBI Gene Summary',NULL,2604,NULL,'The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(21304,'NCBI Gene PubMed Count',NULL,2604,NULL,NULL,NULL,32,NULL,NULL,NULL),(21305,'NCBI Gene PubMed Count',NULL,2605,NULL,NULL,NULL,8,NULL,NULL,NULL),(21306,'NCBI Gene PubMed Count',NULL,2606,NULL,NULL,NULL,10,NULL,NULL,NULL),(21307,'NCBI Gene Summary',NULL,2607,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21308,'NCBI Gene PubMed Count',NULL,2607,NULL,NULL,NULL,45,NULL,NULL,NULL),(21309,'NCBI Gene Summary',NULL,2608,NULL,'This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(21310,'NCBI Gene PubMed Count',NULL,2608,NULL,NULL,NULL,10,NULL,NULL,NULL),(21311,'NCBI Gene Summary',NULL,2609,NULL,'The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21312,'NCBI Gene PubMed Count',NULL,2609,NULL,NULL,NULL,23,NULL,NULL,NULL),(21313,'NCBI Gene Summary',NULL,2610,NULL,'This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(21314,'NCBI Gene PubMed Count',NULL,2610,NULL,NULL,NULL,135,NULL,NULL,NULL),(21315,'NCBI Gene Summary',NULL,2611,NULL,'This gene is a member of the diacylglycerol acyltransferase 2 family. The encoded protein is a putative acyltransferase and is most likely involved in the synthesis of di- or triacylglycerol, however its substrate specificity is currently unknown. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(21316,'NCBI Gene PubMed Count',NULL,2611,NULL,NULL,NULL,5,NULL,NULL,NULL),(21317,'NCBI Gene Summary',NULL,2612,NULL,'This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(21318,'NCBI Gene PubMed Count',NULL,2612,NULL,NULL,NULL,37,NULL,NULL,NULL),(21319,'NCBI Gene Summary',NULL,2613,NULL,'The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21320,'NCBI Gene PubMed Count',NULL,2613,NULL,NULL,NULL,26,NULL,NULL,NULL),(21321,'NCBI Gene Summary',NULL,2614,NULL,'This gene is a member of the hydroxysteroid dehydrogenase family. The encoded protein is similar to an enzyme that catalyzes the interconversion of inactive to active glucocorticoids (e.g. cortisone). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(21322,'NCBI Gene PubMed Count',NULL,2614,NULL,NULL,NULL,5,NULL,NULL,NULL),(21323,'NCBI Gene Summary',NULL,2615,NULL,'This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(21324,'NCBI Gene PubMed Count',NULL,2615,NULL,NULL,NULL,141,NULL,NULL,NULL),(21325,'NCBI Gene Summary',NULL,2616,NULL,'This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(21326,'NCBI Gene PubMed Count',NULL,2616,NULL,NULL,NULL,40,NULL,NULL,NULL),(21327,'NCBI Gene Summary',NULL,2617,NULL,'This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(21328,'NCBI Gene PubMed Count',NULL,2617,NULL,NULL,NULL,142,NULL,NULL,NULL),(21329,'NCBI Gene Summary',NULL,2618,NULL,'In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21330,'NCBI Gene PubMed Count',NULL,2618,NULL,NULL,NULL,27,NULL,NULL,NULL),(21331,'NCBI Gene Summary',NULL,2619,NULL,'This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(21332,'NCBI Gene PubMed Count',NULL,2619,NULL,NULL,NULL,114,NULL,NULL,NULL),(21333,'NCBI Gene Summary',NULL,2620,NULL,'The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21334,'NCBI Gene PubMed Count',NULL,2620,NULL,NULL,NULL,14,NULL,NULL,NULL),(21335,'NCBI Gene Summary',NULL,2621,NULL,'DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(21336,'NCBI Gene PubMed Count',NULL,2621,NULL,NULL,NULL,11,NULL,NULL,NULL),(21337,'NCBI Gene Summary',NULL,2622,NULL,'This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(21338,'NCBI Gene PubMed Count',NULL,2622,NULL,NULL,NULL,109,NULL,NULL,NULL),(21339,'NCBI Gene PubMed Count',NULL,2623,NULL,NULL,NULL,12,NULL,NULL,NULL),(21340,'NCBI Gene Summary',NULL,2624,NULL,'This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(21341,'NCBI Gene PubMed Count',NULL,2624,NULL,NULL,NULL,20,NULL,NULL,NULL),(21342,'NCBI Gene Summary',NULL,2625,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular procsses involving RNA binding and alteration of RNA secondary structure. This gene encodes a DEXD/H box RNA helicase that functions as an antiviral factor and promotes RIG-I-like receptor-mediated signaling. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(21343,'NCBI Gene PubMed Count',NULL,2625,NULL,NULL,NULL,6,NULL,NULL,NULL),(21344,'NCBI Gene Summary',NULL,2626,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21345,'NCBI Gene PubMed Count',NULL,2626,NULL,NULL,NULL,26,NULL,NULL,NULL),(21346,'NCBI Gene Summary',NULL,2627,NULL,'This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21347,'NCBI Gene PubMed Count',NULL,2627,NULL,NULL,NULL,31,NULL,NULL,NULL),(21348,'NCBI Gene PubMed Count',NULL,2628,NULL,NULL,NULL,12,NULL,NULL,NULL),(21349,'NCBI Gene Summary',NULL,2629,NULL,'This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA unwinding. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(21350,'NCBI Gene PubMed Count',NULL,2629,NULL,NULL,NULL,16,NULL,NULL,NULL),(21351,'NCBI Gene Summary',NULL,2630,NULL,'This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21352,'NCBI Gene PubMed Count',NULL,2630,NULL,NULL,NULL,14,NULL,NULL,NULL),(21353,'NCBI Gene Summary',NULL,2631,NULL,'The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(21354,'NCBI Gene PubMed Count',NULL,2631,NULL,NULL,NULL,129,NULL,NULL,NULL),(21355,'NCBI Gene PubMed Count',NULL,2632,NULL,NULL,NULL,14,NULL,NULL,NULL),(21356,'NCBI Gene Summary',NULL,2633,NULL,'Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(21357,'NCBI Gene PubMed Count',NULL,2633,NULL,NULL,NULL,21,NULL,NULL,NULL),(21358,'NCBI Gene Summary',NULL,2634,NULL,'This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(21359,'NCBI Gene PubMed Count',NULL,2634,NULL,NULL,NULL,94,NULL,NULL,NULL),(21360,'NCBI Gene Summary',NULL,2635,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(21361,'NCBI Gene PubMed Count',NULL,2635,NULL,NULL,NULL,21,NULL,NULL,NULL),(21362,'NCBI Gene Summary',NULL,2636,NULL,'The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3\'-5\' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(21363,'NCBI Gene PubMed Count',NULL,2636,NULL,NULL,NULL,14,NULL,NULL,NULL),(21364,'NCBI Gene Summary',NULL,2637,NULL,'This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(21365,'NCBI Gene PubMed Count',NULL,2637,NULL,NULL,NULL,14,NULL,NULL,NULL),(21366,'NCBI Gene Summary',NULL,2638,NULL,'This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(21367,'NCBI Gene PubMed Count',NULL,2638,NULL,NULL,NULL,391,NULL,NULL,NULL),(21368,'NCBI Gene PubMed Count',NULL,2639,NULL,NULL,NULL,14,NULL,NULL,NULL),(21369,'NCBI Gene Summary',NULL,2640,NULL,'HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]',NULL,NULL,NULL,NULL,NULL),(21370,'NCBI Gene PubMed Count',NULL,2640,NULL,NULL,NULL,34,NULL,NULL,NULL),(21371,'NCBI Gene PubMed Count',NULL,2641,NULL,NULL,NULL,17,NULL,NULL,NULL),(21372,'NCBI Gene Summary',NULL,2642,NULL,'This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21373,'NCBI Gene PubMed Count',NULL,2642,NULL,NULL,NULL,9,NULL,NULL,NULL),(21374,'NCBI Gene PubMed Count',NULL,2643,NULL,NULL,NULL,18,NULL,NULL,NULL),(21375,'NCBI Gene PubMed Count',NULL,2644,NULL,NULL,NULL,24,NULL,NULL,NULL),(21376,'NCBI Gene Summary',NULL,2645,NULL,'This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(21377,'NCBI Gene PubMed Count',NULL,2645,NULL,NULL,NULL,39,NULL,NULL,NULL),(21378,'NCBI Gene Summary',NULL,2646,NULL,'This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21379,'NCBI Gene PubMed Count',NULL,2646,NULL,NULL,NULL,26,NULL,NULL,NULL),(21380,'NCBI Gene Summary',NULL,2647,NULL,'This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(21381,'NCBI Gene PubMed Count',NULL,2647,NULL,NULL,NULL,417,NULL,NULL,NULL),(21382,'NCBI Gene Summary',NULL,2648,NULL,'This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain components. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(21383,'NCBI Gene PubMed Count',NULL,2648,NULL,NULL,NULL,18,NULL,NULL,NULL),(21384,'NCBI Gene PubMed Count',NULL,2649,NULL,NULL,NULL,5,NULL,NULL,NULL),(21385,'NCBI Gene Summary',NULL,2650,NULL,'This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21386,'NCBI Gene PubMed Count',NULL,2650,NULL,NULL,NULL,21,NULL,NULL,NULL),(21387,'NCBI Gene Summary',NULL,2651,NULL,'This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(21388,'NCBI Gene PubMed Count',NULL,2651,NULL,NULL,NULL,10,NULL,NULL,NULL),(21389,'NCBI Gene PubMed Count',NULL,2652,NULL,NULL,NULL,19,NULL,NULL,NULL),(21390,'NCBI Gene Summary',NULL,2653,NULL,'Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(21391,'NCBI Gene PubMed Count',NULL,2653,NULL,NULL,NULL,20,NULL,NULL,NULL),(21392,'NCBI Gene Summary',NULL,2654,NULL,'The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(21393,'NCBI Gene PubMed Count',NULL,2654,NULL,NULL,NULL,19,NULL,NULL,NULL),(21394,'NCBI Gene Summary',NULL,2655,NULL,'Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21395,'NCBI Gene PubMed Count',NULL,2655,NULL,NULL,NULL,32,NULL,NULL,NULL),(21396,'NCBI Gene PubMed Count',NULL,2656,NULL,NULL,NULL,13,NULL,NULL,NULL),(21397,'NCBI Gene Summary',NULL,2657,NULL,'The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21398,'NCBI Gene PubMed Count',NULL,2657,NULL,NULL,NULL,28,NULL,NULL,NULL),(21399,'NCBI Gene Summary',NULL,2658,NULL,'This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21400,'NCBI Gene PubMed Count',NULL,2658,NULL,NULL,NULL,26,NULL,NULL,NULL),(21401,'NCBI Gene Summary',NULL,2659,NULL,'This gene is a member of the type IV diacylglycerol kinase subfamily.  Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid.  The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21402,'NCBI Gene PubMed Count',NULL,2659,NULL,NULL,NULL,15,NULL,NULL,NULL),(21403,'NCBI Gene Summary',NULL,2660,NULL,'There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-beta-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(21404,'NCBI Gene PubMed Count',NULL,2660,NULL,NULL,NULL,170,NULL,NULL,NULL),(21405,'NCBI Gene Summary',NULL,2661,NULL,'This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin.  This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations.  Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21406,'NCBI Gene PubMed Count',NULL,2661,NULL,NULL,NULL,53,NULL,NULL,NULL),(21407,'NCBI Gene Summary',NULL,2662,NULL,'Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(21408,'NCBI Gene PubMed Count',NULL,2662,NULL,NULL,NULL,13,NULL,NULL,NULL),(21409,'NCBI Gene Summary',NULL,2663,NULL,'This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21410,'NCBI Gene PubMed Count',NULL,2663,NULL,NULL,NULL,77,NULL,NULL,NULL),(21411,'NCBI Gene Summary',NULL,2664,NULL,'This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(21412,'NCBI Gene PubMed Count',NULL,2664,NULL,NULL,NULL,19,NULL,NULL,NULL),(21413,'NCBI Gene Summary',NULL,2665,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(21414,'NCBI Gene PubMed Count',NULL,2665,NULL,NULL,NULL,20,NULL,NULL,NULL),(21415,'NCBI Gene Summary',NULL,2666,NULL,'This gene encodes a member of the ras superfamily. This gene is imprinted gene with monoallelic expression of the paternal allele which is associated with growth suppression. The encoded protein acts as a tumor suppressor whose function is abrogated in many ovarian and breast cancers. This protein may also play a role autophagy in certain cancer cells by regulating the autophagosome initiation complex. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(21416,'NCBI Gene PubMed Count',NULL,2666,NULL,NULL,NULL,55,NULL,NULL,NULL),(21417,'NCBI Gene Summary',NULL,2667,NULL,'This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(21418,'NCBI Gene PubMed Count',NULL,2667,NULL,NULL,NULL,32,NULL,NULL,NULL),(21419,'NCBI Gene Summary',NULL,2668,NULL,'This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molecular chaperone protein. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(21420,'NCBI Gene PubMed Count',NULL,2668,NULL,NULL,NULL,11,NULL,NULL,NULL),(21421,'NCBI Gene Summary',NULL,2669,NULL,'This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson\'s disease. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(21422,'NCBI Gene PubMed Count',NULL,2669,NULL,NULL,NULL,29,NULL,NULL,NULL),(21423,'NCBI Gene Summary',NULL,2670,NULL,'This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21424,'NCBI Gene PubMed Count',NULL,2670,NULL,NULL,NULL,254,NULL,NULL,NULL),(21425,'NCBI Gene PubMed Count',NULL,2671,NULL,NULL,NULL,12,NULL,NULL,NULL),(21426,'NCBI Gene Summary',NULL,2672,NULL,'DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(21427,'NCBI Gene PubMed Count',NULL,2672,NULL,NULL,NULL,14,NULL,NULL,NULL),(21428,'NCBI Gene Summary',NULL,2673,NULL,'This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21429,'NCBI Gene PubMed Count',NULL,2673,NULL,NULL,NULL,133,NULL,NULL,NULL),(21430,'NCBI Gene PubMed Count',NULL,2674,NULL,NULL,NULL,10,NULL,NULL,NULL),(21431,'NCBI Gene Summary',NULL,2675,NULL,'Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21432,'NCBI Gene PubMed Count',NULL,2675,NULL,NULL,NULL,66,NULL,NULL,NULL),(21433,'NCBI Gene Summary',NULL,2676,NULL,'This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(21434,'NCBI Gene PubMed Count',NULL,2676,NULL,NULL,NULL,68,NULL,NULL,NULL),(21435,'NCBI Gene Summary',NULL,2677,NULL,'This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(21436,'NCBI Gene PubMed Count',NULL,2677,NULL,NULL,NULL,55,NULL,NULL,NULL),(21437,'NCBI Gene PubMed Count',NULL,2678,NULL,NULL,NULL,31,NULL,NULL,NULL),(21438,'NCBI Gene Summary',NULL,2679,NULL,'This gene encodes a member of the histidine triad family of pyrophosphatases that removes short mRNA fragments containing the 5&#8242; mRNA cap structure, which appear in the 3&#8242; &#8594; 5&#8242; mRNA decay pathway, following deadenylation and exosome-mediated turnover. This enzyme hydrolyzes the triphosphate linkage of the cap structure (7-methylguanosine nucleoside triphosphate) to yield 7-methylguanosine monophosphate and nucleoside diphosphate. It protects the cell from the potentially toxic accumulation of these short, capped mRNA fragments, and regulates the activity of other cap-binding proteins, which are inhibited by their accumulation. It also acts as a transcript-specific modulator of pre-mRNA splicing and microRNA turnover. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(21439,'NCBI Gene PubMed Count',NULL,2679,NULL,NULL,NULL,30,NULL,NULL,NULL),(21440,'NCBI Gene Summary',NULL,2680,NULL,'This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(21441,'NCBI Gene PubMed Count',NULL,2680,NULL,NULL,NULL,25,NULL,NULL,NULL),(21442,'NCBI Gene Summary',NULL,2681,NULL,'The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21443,'NCBI Gene PubMed Count',NULL,2681,NULL,NULL,NULL,11,NULL,NULL,NULL),(21444,'NCBI Gene PubMed Count',NULL,2682,NULL,NULL,NULL,9,NULL,NULL,NULL),(21445,'NCBI Gene PubMed Count',NULL,2683,NULL,NULL,NULL,12,NULL,NULL,NULL),(21446,'NCBI Gene Summary',NULL,2684,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21447,'NCBI Gene PubMed Count',NULL,2684,NULL,NULL,NULL,12,NULL,NULL,NULL),(21448,'NCBI Gene PubMed Count',NULL,2685,NULL,NULL,NULL,11,NULL,NULL,NULL),(21449,'NCBI Gene Summary',NULL,2686,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21450,'NCBI Gene PubMed Count',NULL,2686,NULL,NULL,NULL,34,NULL,NULL,NULL),(21451,'NCBI Gene Summary',NULL,2687,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21452,'NCBI Gene PubMed Count',NULL,2687,NULL,NULL,NULL,16,NULL,NULL,NULL),(21453,'NCBI Gene Summary',NULL,2688,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21454,'NCBI Gene PubMed Count',NULL,2688,NULL,NULL,NULL,14,NULL,NULL,NULL),(21455,'NCBI Gene PubMed Count',NULL,2689,NULL,NULL,NULL,6,NULL,NULL,NULL),(21456,'NCBI Gene PubMed Count',NULL,2690,NULL,NULL,NULL,10,NULL,NULL,NULL),(21457,'NCBI Gene PubMed Count',NULL,2691,NULL,NULL,NULL,8,NULL,NULL,NULL),(21458,'NCBI Gene Summary',NULL,2692,NULL,'Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21459,'NCBI Gene PubMed Count',NULL,2692,NULL,NULL,NULL,58,NULL,NULL,NULL),(21460,'NCBI Gene Summary',NULL,2693,NULL,'The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Several transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(21461,'NCBI Gene PubMed Count',NULL,2693,NULL,NULL,NULL,46,NULL,NULL,NULL),(21462,'NCBI Gene Summary',NULL,2694,NULL,'This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21463,'NCBI Gene PubMed Count',NULL,2694,NULL,NULL,NULL,12,NULL,NULL,NULL),(21464,'NCBI Gene PubMed Count',NULL,2695,NULL,NULL,NULL,2,NULL,NULL,NULL),(21465,'NCBI Gene Summary',NULL,2696,NULL,'This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(21466,'NCBI Gene PubMed Count',NULL,2696,NULL,NULL,NULL,48,NULL,NULL,NULL),(21467,'NCBI Gene Summary',NULL,2697,NULL,'The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hypospadias. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(21468,'NCBI Gene PubMed Count',NULL,2697,NULL,NULL,NULL,12,NULL,NULL,NULL),(21469,'NCBI Gene Summary',NULL,2698,NULL,'The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(21470,'NCBI Gene PubMed Count',NULL,2698,NULL,NULL,NULL,44,NULL,NULL,NULL),(21471,'NCBI Gene Summary',NULL,2699,NULL,'This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(21472,'NCBI Gene PubMed Count',NULL,2699,NULL,NULL,NULL,14,NULL,NULL,NULL),(21473,'NCBI Gene Summary',NULL,2700,NULL,'The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(21474,'NCBI Gene PubMed Count',NULL,2700,NULL,NULL,NULL,78,NULL,NULL,NULL),(21475,'NCBI Gene Summary',NULL,2701,NULL,'This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(21476,'NCBI Gene PubMed Count',NULL,2701,NULL,NULL,NULL,24,NULL,NULL,NULL),(21477,'NCBI Gene Summary',NULL,2702,NULL,'DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(21478,'NCBI Gene PubMed Count',NULL,2702,NULL,NULL,NULL,32,NULL,NULL,NULL),(21479,'NCBI Gene PubMed Count',NULL,2703,NULL,NULL,NULL,12,NULL,NULL,NULL),(21480,'NCBI Gene Summary',NULL,2704,NULL,'Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(21481,'NCBI Gene PubMed Count',NULL,2704,NULL,NULL,NULL,67,NULL,NULL,NULL),(21482,'NCBI Gene Summary',NULL,2705,NULL,'Protein synthesis proceeds after formylation of methionine by methionyl-tRNA formyl transferase (FMT) and transfer of the charged initiator f-met tRNA to the ribosome. In eubacteria and eukaryotic organelles the product of this gene, peptide deformylase (PDF), removes the formyl group from the initiating methionine of nascent peptides. In eubacteria, deformylation of nascent peptides is required for subsequent cleavage of initiating methionines by methionine aminopeptidase. The discovery that a natural inhibitor of PDF, actinonin, acts as an antimicrobial agent in some bacteria has spurred intensive research into the design of bacterial-specific PDF inhibitors. In human cells, only mitochondrial proteins have N-formylation of initiating methionines. Protein inhibitors of PDF or siRNAs of PDF block the growth of cancer cell lines but have no effect on normal cell growth. In humans, PDF function may therefore be restricted to rapidly growing cells. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(21483,'NCBI Gene PubMed Count',NULL,2705,NULL,NULL,NULL,16,NULL,NULL,NULL),(21484,'NCBI Gene PubMed Count',NULL,2706,NULL,NULL,NULL,11,NULL,NULL,NULL),(21485,'NCBI Gene PubMed Count',NULL,2707,NULL,NULL,NULL,5,NULL,NULL,NULL),(21486,'NCBI Gene Summary',NULL,2708,NULL,'This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(21487,'NCBI Gene PubMed Count',NULL,2708,NULL,NULL,NULL,25,NULL,NULL,NULL),(21488,'NCBI Gene Summary',NULL,2709,NULL,'The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(21489,'NCBI Gene PubMed Count',NULL,2709,NULL,NULL,NULL,20,NULL,NULL,NULL),(21490,'NCBI Gene Summary',NULL,2710,NULL,'17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(21491,'NCBI Gene PubMed Count',NULL,2710,NULL,NULL,NULL,15,NULL,NULL,NULL),(21492,'NCBI Gene Summary',NULL,2711,NULL,'This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(21493,'NCBI Gene PubMed Count',NULL,2711,NULL,NULL,NULL,17,NULL,NULL,NULL),(21494,'NCBI Gene Summary',NULL,2712,NULL,'This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation, and is specifically required for ribosomal scanning across stable mRNA secondary structures during initiation codon selection. This protein may also play a role in sensing virally derived cytosolic nucleic acids. Knockdown of this gene results in reduced protein translation and impaired proliferation of cancer cells. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(21495,'NCBI Gene PubMed Count',NULL,2712,NULL,NULL,NULL,19,NULL,NULL,NULL),(21496,'NCBI Gene Summary',NULL,2713,NULL,'This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21497,'NCBI Gene PubMed Count',NULL,2713,NULL,NULL,NULL,9,NULL,NULL,NULL),(21498,'NCBI Gene Summary',NULL,2714,NULL,'Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21499,'NCBI Gene PubMed Count',NULL,2714,NULL,NULL,NULL,30,NULL,NULL,NULL),(21500,'NCBI Gene PubMed Count',NULL,2715,NULL,NULL,NULL,40,NULL,NULL,NULL),(21501,'NCBI Gene Summary',NULL,2716,NULL,'The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.[provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(21502,'NCBI Gene PubMed Count',NULL,2716,NULL,NULL,NULL,23,NULL,NULL,NULL),(21503,'NCBI Gene Summary',NULL,2717,NULL,'This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(21504,'NCBI Gene PubMed Count',NULL,2717,NULL,NULL,NULL,32,NULL,NULL,NULL),(21505,'NCBI Gene Summary',NULL,2718,NULL,'This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21506,'NCBI Gene PubMed Count',NULL,2718,NULL,NULL,NULL,19,NULL,NULL,NULL),(21507,'NCBI Gene Summary',NULL,2719,NULL,'Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21508,'NCBI Gene PubMed Count',NULL,2719,NULL,NULL,NULL,202,NULL,NULL,NULL),(21509,'NCBI Gene Summary',NULL,2720,NULL,'This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(21510,'NCBI Gene PubMed Count',NULL,2720,NULL,NULL,NULL,16,NULL,NULL,NULL),(21511,'NCBI Gene Summary',NULL,2721,NULL,'DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(21512,'NCBI Gene PubMed Count',NULL,2721,NULL,NULL,NULL,24,NULL,NULL,NULL),(21513,'NCBI Gene Summary',NULL,2722,NULL,'This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(21514,'NCBI Gene PubMed Count',NULL,2722,NULL,NULL,NULL,116,NULL,NULL,NULL),(21515,'NCBI Gene PubMed Count',NULL,2723,NULL,NULL,NULL,5,NULL,NULL,NULL),(21516,'NCBI Gene Summary',NULL,2724,NULL,'This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21517,'NCBI Gene PubMed Count',NULL,2724,NULL,NULL,NULL,125,NULL,NULL,NULL),(21518,'NCBI Gene Summary',NULL,2725,NULL,'This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(21519,'NCBI Gene PubMed Count',NULL,2725,NULL,NULL,NULL,40,NULL,NULL,NULL),(21520,'NCBI Gene Summary',NULL,2726,NULL,'Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(21521,'NCBI Gene PubMed Count',NULL,2726,NULL,NULL,NULL,35,NULL,NULL,NULL),(21522,'NCBI Gene Summary',NULL,2727,NULL,'This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21523,'NCBI Gene PubMed Count',NULL,2727,NULL,NULL,NULL,25,NULL,NULL,NULL),(21524,'NCBI Gene Summary',NULL,2728,NULL,'Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction.  When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21525,'NCBI Gene PubMed Count',NULL,2728,NULL,NULL,NULL,35,NULL,NULL,NULL),(21526,'NCBI Gene Summary',NULL,2729,NULL,'This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(21527,'NCBI Gene PubMed Count',NULL,2729,NULL,NULL,NULL,81,NULL,NULL,NULL),(21528,'NCBI Gene Summary',NULL,2730,NULL,'This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21529,'NCBI Gene PubMed Count',NULL,2730,NULL,NULL,NULL,58,NULL,NULL,NULL),(21530,'NCBI Gene Summary',NULL,2731,NULL,'This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21531,'NCBI Gene PubMed Count',NULL,2731,NULL,NULL,NULL,13,NULL,NULL,NULL),(21532,'NCBI Gene PubMed Count',NULL,2732,NULL,NULL,NULL,4,NULL,NULL,NULL),(21533,'NCBI Gene PubMed Count',NULL,2733,NULL,NULL,NULL,14,NULL,NULL,NULL),(21534,'NCBI Gene Summary',NULL,2734,NULL,'This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21535,'NCBI Gene PubMed Count',NULL,2734,NULL,NULL,NULL,23,NULL,NULL,NULL),(21536,'NCBI Gene PubMed Count',NULL,2735,NULL,NULL,NULL,3,NULL,NULL,NULL),(21537,'NCBI Gene PubMed Count',NULL,2736,NULL,NULL,NULL,14,NULL,NULL,NULL),(21538,'NCBI Gene Summary',NULL,2737,NULL,'The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(21539,'NCBI Gene PubMed Count',NULL,2737,NULL,NULL,NULL,232,NULL,NULL,NULL),(21540,'NCBI Gene Summary',NULL,2738,NULL,'This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(21541,'NCBI Gene PubMed Count',NULL,2738,NULL,NULL,NULL,17,NULL,NULL,NULL),(21542,'NCBI Gene Summary',NULL,2739,NULL,'This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members of this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative promoter use and alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(21543,'NCBI Gene PubMed Count',NULL,2739,NULL,NULL,NULL,20,NULL,NULL,NULL),(21544,'NCBI Gene Summary',NULL,2740,NULL,'This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(21545,'NCBI Gene PubMed Count',NULL,2740,NULL,NULL,NULL,14,NULL,NULL,NULL),(21546,'NCBI Gene Summary',NULL,2741,NULL,'Disruption of DIRC1 by translocation is associated with familial clear cell renal cancer. Overexpression of DIRC1 is associated with tumor progression and poor prognosis in gastric cancer. [provided by RefSeq, Mar 2019]',NULL,NULL,NULL,NULL,NULL),(21547,'NCBI Gene PubMed Count',NULL,2741,NULL,NULL,NULL,8,NULL,NULL,NULL),(21548,'NCBI Gene Summary',NULL,2742,NULL,'This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(21549,'NCBI Gene PubMed Count',NULL,2742,NULL,NULL,NULL,117,NULL,NULL,NULL),(21550,'NCBI Gene Summary',NULL,2743,NULL,'This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(21551,'NCBI Gene PubMed Count',NULL,2743,NULL,NULL,NULL,14,NULL,NULL,NULL),(21552,'NCBI Gene Summary',NULL,2744,NULL,'HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21553,'NCBI Gene PubMed Count',NULL,2744,NULL,NULL,NULL,79,NULL,NULL,NULL),(21554,'NCBI Gene PubMed Count',NULL,2745,NULL,NULL,NULL,38,NULL,NULL,NULL),(21555,'NCBI Gene Summary',NULL,2746,NULL,'This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(21556,'NCBI Gene PubMed Count',NULL,2746,NULL,NULL,NULL,13,NULL,NULL,NULL),(21557,'NCBI Gene Summary',NULL,2747,NULL,'This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(21558,'NCBI Gene PubMed Count',NULL,2747,NULL,NULL,NULL,23,NULL,NULL,NULL),(21559,'NCBI Gene Summary',NULL,2748,NULL,'GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(21560,'NCBI Gene PubMed Count',NULL,2748,NULL,NULL,NULL,104,NULL,NULL,NULL),(21561,'NCBI Gene Summary',NULL,2749,NULL,'The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(21562,'NCBI Gene PubMed Count',NULL,2749,NULL,NULL,NULL,54,NULL,NULL,NULL),(21563,'NCBI Gene Summary',NULL,2750,NULL,'The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(21564,'NCBI Gene PubMed Count',NULL,2750,NULL,NULL,NULL,25,NULL,NULL,NULL),(21565,'NCBI Gene Summary',NULL,2751,NULL,'This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(21566,'NCBI Gene PubMed Count',NULL,2751,NULL,NULL,NULL,86,NULL,NULL,NULL),(21567,'NCBI Gene Summary',NULL,2752,NULL,'This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extracellular matrix of the tooth, dentin sialoprotein and dentin phosphoprotein. These two protein products may play distinct but related roles in dentin mineralization. Mutations in this gene are associated with dentinogenesis imperfecta and dentin dysplasia. This gene is present in a gene cluster on chromosome 4. Allelic differences due to repeat polymorphisms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(21568,'NCBI Gene PubMed Count',NULL,2752,NULL,NULL,NULL,74,NULL,NULL,NULL),(21569,'NCBI Gene Summary',NULL,2753,NULL,'This gene encodes a protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(21570,'NCBI Gene PubMed Count',NULL,2753,NULL,NULL,NULL,7,NULL,NULL,NULL),(21571,'NCBI Gene Summary',NULL,2754,NULL,'DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(21572,'NCBI Gene PubMed Count',NULL,2754,NULL,NULL,NULL,22,NULL,NULL,NULL),(21573,'NCBI Gene PubMed Count',NULL,2755,NULL,NULL,NULL,66,NULL,NULL,NULL),(21574,'NCBI Gene Summary',NULL,2756,NULL,'This gene encodes a member of the tyrosine phosphatase family of proteins and exhibits dual specificity by dephosphorylating tyrosine as well as serine and threonine residues. This gene has been described as both a tumor suppressor and an oncogene depending on the cellular context. This protein may regulate neuronal proliferation and has been implicated in the progression of glioblastoma through its ability to dephosphorylate the p53 tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(21575,'NCBI Gene PubMed Count',NULL,2756,NULL,NULL,NULL,22,NULL,NULL,NULL),(21576,'NCBI Gene PubMed Count',NULL,2757,NULL,NULL,NULL,6,NULL,NULL,NULL),(21577,'NCBI Gene Summary',NULL,2758,NULL,'DTX3 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(21578,'NCBI Gene PubMed Count',NULL,2758,NULL,NULL,NULL,10,NULL,NULL,NULL),(21579,'NCBI Gene Summary',NULL,2759,NULL,'The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21580,'NCBI Gene PubMed Count',NULL,2759,NULL,NULL,NULL,103,NULL,NULL,NULL),(21581,'NCBI Gene Summary',NULL,2760,NULL,'The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product shows selectivity for members of the ERK family of MAP kinases and is localized to the cytoplasm and nucleus. Aberrant expression of this gene is associated with type 2 diabetes and cancer progression in several cell types. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(21582,'NCBI Gene PubMed Count',NULL,2760,NULL,NULL,NULL,17,NULL,NULL,NULL),(21583,'NCBI Gene Summary',NULL,2761,NULL,'The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is localized to the nucleus and binds directly to RNA and splicing factors, and thus it is suggested to participate in nuclear mRNA metabolism. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(21584,'NCBI Gene PubMed Count',NULL,2761,NULL,NULL,NULL,17,NULL,NULL,NULL),(21585,'NCBI Gene PubMed Count',NULL,2762,NULL,NULL,NULL,7,NULL,NULL,NULL),(21586,'NCBI Gene Summary',NULL,2763,NULL,'Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21587,'NCBI Gene PubMed Count',NULL,2763,NULL,NULL,NULL,56,NULL,NULL,NULL),(21588,'NCBI Gene Summary',NULL,2764,NULL,'This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018]',NULL,NULL,NULL,NULL,NULL),(21589,'NCBI Gene PubMed Count',NULL,2764,NULL,NULL,NULL,175,NULL,NULL,NULL),(21590,'NCBI Gene Summary',NULL,2765,NULL,'This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked cognitive disability. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(21591,'NCBI Gene PubMed Count',NULL,2765,NULL,NULL,NULL,60,NULL,NULL,NULL),(21592,'NCBI Gene Summary',NULL,2766,NULL,'This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3\'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(21593,'NCBI Gene PubMed Count',NULL,2766,NULL,NULL,NULL,80,NULL,NULL,NULL),(21594,'NCBI Gene PubMed Count',NULL,2767,NULL,NULL,NULL,34,NULL,NULL,NULL),(21595,'NCBI Gene Summary',NULL,2768,NULL,'This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21596,'NCBI Gene PubMed Count',NULL,2768,NULL,NULL,NULL,36,NULL,NULL,NULL),(21597,'NCBI Gene Summary',NULL,2769,NULL,'The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(21598,'NCBI Gene PubMed Count',NULL,2769,NULL,NULL,NULL,21,NULL,NULL,NULL),(21599,'NCBI Gene Summary',NULL,2770,NULL,'Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(21600,'NCBI Gene PubMed Count',NULL,2770,NULL,NULL,NULL,97,NULL,NULL,NULL),(21601,'NCBI Gene Summary',NULL,2771,NULL,'Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5\' UTR. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21602,'NCBI Gene PubMed Count',NULL,2771,NULL,NULL,NULL,47,NULL,NULL,NULL),(21603,'NCBI Gene Summary',NULL,2772,NULL,'The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21604,'NCBI Gene PubMed Count',NULL,2772,NULL,NULL,NULL,11,NULL,NULL,NULL),(21605,'NCBI Gene Summary',NULL,2773,NULL,'The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(21606,'NCBI Gene PubMed Count',NULL,2773,NULL,NULL,NULL,38,NULL,NULL,NULL),(21607,'NCBI Gene Summary',NULL,2774,NULL,'This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(21608,'NCBI Gene PubMed Count',NULL,2774,NULL,NULL,NULL,17,NULL,NULL,NULL),(21609,'NCBI Gene Summary',NULL,2775,NULL,'This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(21610,'NCBI Gene PubMed Count',NULL,2775,NULL,NULL,NULL,105,NULL,NULL,NULL),(21611,'NCBI Gene Summary',NULL,2776,NULL,'GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21612,'NCBI Gene PubMed Count',NULL,2776,NULL,NULL,NULL,42,NULL,NULL,NULL),(21613,'NCBI Gene Summary',NULL,2777,NULL,'This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(21614,'NCBI Gene PubMed Count',NULL,2777,NULL,NULL,NULL,231,NULL,NULL,NULL),(21615,'NCBI Gene Summary',NULL,2778,NULL,'The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21616,'NCBI Gene PubMed Count',NULL,2778,NULL,NULL,NULL,90,NULL,NULL,NULL),(21617,'NCBI Gene Summary',NULL,2779,NULL,'The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21618,'NCBI Gene PubMed Count',NULL,2779,NULL,NULL,NULL,50,NULL,NULL,NULL),(21619,'NCBI Gene PubMed Count',NULL,2780,NULL,NULL,NULL,10,NULL,NULL,NULL),(21620,'NCBI Gene PubMed Count',NULL,2781,NULL,NULL,NULL,10,NULL,NULL,NULL),(21621,'NCBI Gene PubMed Count',NULL,2782,NULL,NULL,NULL,3,NULL,NULL,NULL),(21622,'NCBI Gene PubMed Count',NULL,2783,NULL,NULL,NULL,1,NULL,NULL,NULL),(21623,'NCBI Gene Summary',NULL,2784,NULL,'This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(21624,'NCBI Gene PubMed Count',NULL,2784,NULL,NULL,NULL,41,NULL,NULL,NULL),(21625,'NCBI Gene PubMed Count',NULL,2785,NULL,NULL,NULL,4,NULL,NULL,NULL),(21626,'NCBI Gene Summary',NULL,2786,NULL,'This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(21627,'NCBI Gene PubMed Count',NULL,2786,NULL,NULL,NULL,39,NULL,NULL,NULL),(21628,'NCBI Gene Summary',NULL,2787,NULL,'While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(21629,'NCBI Gene PubMed Count',NULL,2787,NULL,NULL,NULL,9,NULL,NULL,NULL),(21630,'NCBI Gene PubMed Count',NULL,2788,NULL,NULL,NULL,9,NULL,NULL,NULL),(21631,'NCBI Gene PubMed Count',NULL,2789,NULL,NULL,NULL,17,NULL,NULL,NULL),(21632,'NCBI Gene Summary',NULL,2790,NULL,'The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer\'s disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21633,'NCBI Gene PubMed Count',NULL,2790,NULL,NULL,NULL,67,NULL,NULL,NULL),(21634,'NCBI Gene PubMed Count',NULL,2791,NULL,NULL,NULL,28,NULL,NULL,NULL),(21635,'NCBI Gene Summary',NULL,2792,NULL,'This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(21636,'NCBI Gene PubMed Count',NULL,2792,NULL,NULL,NULL,27,NULL,NULL,NULL),(21637,'NCBI Gene PubMed Count',NULL,2793,NULL,NULL,NULL,5,NULL,NULL,NULL),(21638,'NCBI Gene PubMed Count',NULL,2794,NULL,NULL,NULL,6,NULL,NULL,NULL),(21639,'NCBI Gene Summary',NULL,2795,NULL,'Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(21640,'NCBI Gene PubMed Count',NULL,2795,NULL,NULL,NULL,8,NULL,NULL,NULL),(21641,'NCBI Gene Summary',NULL,2796,NULL,'This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21642,'NCBI Gene PubMed Count',NULL,2796,NULL,NULL,NULL,10,NULL,NULL,NULL),(21643,'NCBI Gene PubMed Count',NULL,2797,NULL,NULL,NULL,4,NULL,NULL,NULL),(21644,'NCBI Gene Summary',NULL,2798,NULL,'Members of the protein-tyrosine phosphatase superfamily cooperate with protein kinases to regulate cell proliferation and  differentiation. This superfamily is separated into two families based on the substrate that is dephosphorylated. One family, the dual specificity phosphatases (DSPs) acts on both phosphotyrosine and phosphoserine/threonine residues. This gene encodes different but related DSP proteins through the use of non-overlapping open reading frames, alternate splicing, and presumed different transcription promoters. Expression of the distinct proteins from this gene has been found to be tissue specific and the proteins may be involved in postnatal development of specific tissues. A protein encoded by the upstream ORF was found in skeletal muscle, whereas the encoded protein from the downstream ORF was found only in testis. In mouse, a similar pattern of expression was found. Multiple alternatively spliced transcript variants were described, but the full-length sequence of only some were determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21645,'NCBI Gene PubMed Count',NULL,2798,NULL,NULL,NULL,14,NULL,NULL,NULL),(21646,'NCBI Gene Summary',NULL,2799,NULL,'Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(21647,'NCBI Gene PubMed Count',NULL,2799,NULL,NULL,NULL,14,NULL,NULL,NULL),(21648,'NCBI Gene PubMed Count',NULL,2800,NULL,NULL,NULL,6,NULL,NULL,NULL),(21649,'NCBI Gene Summary',NULL,2801,NULL,'Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(21650,'NCBI Gene PubMed Count',NULL,2801,NULL,NULL,NULL,15,NULL,NULL,NULL),(21651,'NCBI Gene Summary',NULL,2802,NULL,'Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21652,'NCBI Gene PubMed Count',NULL,2802,NULL,NULL,NULL,11,NULL,NULL,NULL),(21653,'NCBI Gene PubMed Count',NULL,2803,NULL,NULL,NULL,2,NULL,NULL,NULL),(21654,'NCBI Gene PubMed Count',NULL,2804,NULL,NULL,NULL,9,NULL,NULL,NULL),(21655,'NCBI Gene PubMed Count',NULL,2805,NULL,NULL,NULL,44,NULL,NULL,NULL),(21656,'NCBI Gene PubMed Count',NULL,2806,NULL,NULL,NULL,6,NULL,NULL,NULL),(21657,'NCBI Gene Summary',NULL,2807,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(21658,'NCBI Gene PubMed Count',NULL,2807,NULL,NULL,NULL,25,NULL,NULL,NULL),(21659,'NCBI Gene PubMed Count',NULL,2808,NULL,NULL,NULL,14,NULL,NULL,NULL),(21660,'NCBI Gene Summary',NULL,2809,NULL,'CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(21661,'NCBI Gene PubMed Count',NULL,2809,NULL,NULL,NULL,43,NULL,NULL,NULL),(21662,'NCBI Gene PubMed Count',NULL,2810,NULL,NULL,NULL,4,NULL,NULL,NULL),(21663,'NCBI Gene Summary',NULL,2811,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21664,'NCBI Gene PubMed Count',NULL,2811,NULL,NULL,NULL,858,NULL,NULL,NULL),(21665,'NCBI Gene Summary',NULL,2812,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21666,'NCBI Gene PubMed Count',NULL,2812,NULL,NULL,NULL,41,NULL,NULL,NULL),(21667,'NCBI Gene Summary',NULL,2813,NULL,'This gene encodes a core subunit of the eukaryotic initiation factor 3 complex, which participates in the initiation of translation by aiding in the recruitment of protein and mRNA components to the 40S ribosome. There are pseudogenes for this gene on chromosomes 1, 3, and 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(21668,'NCBI Gene PubMed Count',NULL,2813,NULL,NULL,NULL,29,NULL,NULL,NULL),(21669,'NCBI Gene PubMed Count',NULL,2814,NULL,NULL,NULL,6,NULL,NULL,NULL),(21670,'NCBI Gene Summary',NULL,2815,NULL,'This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(21671,'NCBI Gene PubMed Count',NULL,2815,NULL,NULL,NULL,12,NULL,NULL,NULL),(21672,'NCBI Gene Summary',NULL,2816,NULL,'Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3\' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3\' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21673,'NCBI Gene PubMed Count',NULL,2816,NULL,NULL,NULL,32,NULL,NULL,NULL),(21674,'NCBI Gene Summary',NULL,2817,NULL,'CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(21675,'NCBI Gene PubMed Count',NULL,2817,NULL,NULL,NULL,6,NULL,NULL,NULL),(21676,'NCBI Gene PubMed Count',NULL,2818,NULL,NULL,NULL,2,NULL,NULL,NULL),(21677,'NCBI Gene PubMed Count',NULL,2819,NULL,NULL,NULL,7,NULL,NULL,NULL),(21678,'NCBI Gene PubMed Count',NULL,2820,NULL,NULL,NULL,8,NULL,NULL,NULL),(21679,'NCBI Gene PubMed Count',NULL,2821,NULL,NULL,NULL,13,NULL,NULL,NULL),(21680,'NCBI Gene Summary',NULL,2822,NULL,'This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(21681,'NCBI Gene PubMed Count',NULL,2822,NULL,NULL,NULL,7,NULL,NULL,NULL),(21682,'NCBI Gene PubMed Count',NULL,2823,NULL,NULL,NULL,2,NULL,NULL,NULL),(21683,'NCBI Gene Summary',NULL,2824,NULL,'Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21684,'NCBI Gene PubMed Count',NULL,2824,NULL,NULL,NULL,42,NULL,NULL,NULL),(21685,'NCBI Gene PubMed Count',NULL,2825,NULL,NULL,NULL,7,NULL,NULL,NULL),(21686,'NCBI Gene Summary',NULL,2826,NULL,'This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(21687,'NCBI Gene PubMed Count',NULL,2826,NULL,NULL,NULL,41,NULL,NULL,NULL),(21688,'NCBI Gene Summary',NULL,2827,NULL,'This gene encodes a transmembrane receptor and is often referred to as DC-SIGN because of its expression on the surface of dendritic cells and macrophages. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are rare but have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 10332; often referred to as L-SIGN). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(21689,'NCBI Gene PubMed Count',NULL,2827,NULL,NULL,NULL,305,NULL,NULL,NULL),(21690,'NCBI Gene Summary',NULL,2828,NULL,'This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(21691,'NCBI Gene PubMed Count',NULL,2828,NULL,NULL,NULL,141,NULL,NULL,NULL),(21692,'NCBI Gene Summary',NULL,2829,NULL,'This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. This protein is a type-I transmembrane glycoprotein found on the surface of thymocytes, T lymphocytes and a subset of B lymphocytes. The encoded protein contains three SRCR domains and may act as a receptor to regulate T-cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(21693,'NCBI Gene PubMed Count',NULL,2829,NULL,NULL,NULL,93,NULL,NULL,NULL),(21694,'NCBI Gene Summary',NULL,2830,NULL,'This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21695,'NCBI Gene PubMed Count',NULL,2830,NULL,NULL,NULL,132,NULL,NULL,NULL),(21696,'NCBI Gene Summary',NULL,2831,NULL,'CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21697,'NCBI Gene PubMed Count',NULL,2831,NULL,NULL,NULL,37,NULL,NULL,NULL),(21698,'NCBI Gene Summary',NULL,2832,NULL,'Lymphocytes proliferate and differentiate in response to various concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen receptors. This gene encodes a cell surface molecule which assembles with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21699,'NCBI Gene PubMed Count',NULL,2832,NULL,NULL,NULL,121,NULL,NULL,NULL),(21700,'NCBI Gene Summary',NULL,2833,NULL,'The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21701,'NCBI Gene PubMed Count',NULL,2833,NULL,NULL,NULL,65,NULL,NULL,NULL),(21702,'NCBI Gene Summary',NULL,2834,NULL,'This gene encodes a sialoglycoprotein that is expressed on mature granulocytes and B cells and modulates growth and differentiation signals to these cells. The precursor protein is cleaved to a short 32 amino acid mature peptide which is anchored via a glycosyl phosphatidylinositol (GPI) link to the cell surface. This gene was missing from previous genome assemblies, but is properly located on chromosome 6. Non-transcribed pseudogenes have been designated on chromosomes 1, 15, 20, and Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(21703,'NCBI Gene PubMed Count',NULL,2834,NULL,NULL,NULL,257,NULL,NULL,NULL),(21704,'NCBI Gene Summary',NULL,2835,NULL,'The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21705,'NCBI Gene PubMed Count',NULL,2835,NULL,NULL,NULL,115,NULL,NULL,NULL),(21706,'NCBI Gene Summary',NULL,2836,NULL,'CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(21707,'NCBI Gene PubMed Count',NULL,2836,NULL,NULL,NULL,11,NULL,NULL,NULL),(21708,'NCBI Gene PubMed Count',NULL,2837,NULL,NULL,NULL,30,NULL,NULL,NULL),(21709,'NCBI Gene Summary',NULL,2838,NULL,'This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21710,'NCBI Gene PubMed Count',NULL,2838,NULL,NULL,NULL,23,NULL,NULL,NULL),(21711,'NCBI Gene Summary',NULL,2839,NULL,'The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to a rat protein that is thought to play a role in terminally differentiated neurons. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(21712,'NCBI Gene PubMed Count',NULL,2839,NULL,NULL,NULL,16,NULL,NULL,NULL),(21713,'NCBI Gene PubMed Count',NULL,2840,NULL,NULL,NULL,25,NULL,NULL,NULL),(21714,'NCBI Gene Summary',NULL,2841,NULL,'This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(21715,'NCBI Gene PubMed Count',NULL,2841,NULL,NULL,NULL,184,NULL,NULL,NULL),(21716,'NCBI Gene Summary',NULL,2842,NULL,'This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and cell polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(21717,'NCBI Gene PubMed Count',NULL,2842,NULL,NULL,NULL,222,NULL,NULL,NULL),(21718,'NCBI Gene Summary',NULL,2843,NULL,'This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations of carcinoma. This gene affects the sensitivity of tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface of ileal epithelial cells in patients with Crohn\'s disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(21719,'NCBI Gene PubMed Count',NULL,2843,NULL,NULL,NULL,103,NULL,NULL,NULL),(21720,'NCBI Gene Summary',NULL,2844,NULL,'The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21721,'NCBI Gene PubMed Count',NULL,2844,NULL,NULL,NULL,30,NULL,NULL,NULL),(21722,'NCBI Gene Summary',NULL,2845,NULL,'CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(21723,'NCBI Gene PubMed Count',NULL,2845,NULL,NULL,NULL,10,NULL,NULL,NULL),(21724,'NCBI Gene Summary',NULL,2846,NULL,'This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21725,'NCBI Gene PubMed Count',NULL,2846,NULL,NULL,NULL,62,NULL,NULL,NULL),(21726,'NCBI Gene Summary',NULL,2847,NULL,'Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21727,'NCBI Gene PubMed Count',NULL,2847,NULL,NULL,NULL,50,NULL,NULL,NULL),(21728,'NCBI Gene Summary',NULL,2848,NULL,'The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21729,'NCBI Gene PubMed Count',NULL,2848,NULL,NULL,NULL,31,NULL,NULL,NULL),(21730,'NCBI Gene Summary',NULL,2849,NULL,'This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(21731,'NCBI Gene PubMed Count',NULL,2849,NULL,NULL,NULL,15,NULL,NULL,NULL),(21732,'NCBI Gene Summary',NULL,2850,NULL,'The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(21733,'NCBI Gene PubMed Count',NULL,2850,NULL,NULL,NULL,15,NULL,NULL,NULL),(21734,'NCBI Gene Summary',NULL,2851,NULL,'This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(21735,'NCBI Gene PubMed Count',NULL,2851,NULL,NULL,NULL,10,NULL,NULL,NULL),(21736,'NCBI Gene PubMed Count',NULL,2852,NULL,NULL,NULL,8,NULL,NULL,NULL),(21737,'NCBI Gene Summary',NULL,2853,NULL,'This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(21738,'NCBI Gene PubMed Count',NULL,2853,NULL,NULL,NULL,15,NULL,NULL,NULL),(21739,'NCBI Gene PubMed Count',NULL,2854,NULL,NULL,NULL,19,NULL,NULL,NULL),(21740,'NCBI Gene PubMed Count',NULL,2855,NULL,NULL,NULL,12,NULL,NULL,NULL),(21741,'NCBI Gene PubMed Count',NULL,2856,NULL,NULL,NULL,4,NULL,NULL,NULL),(21742,'NCBI Gene Summary',NULL,2857,NULL,'This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(21743,'NCBI Gene PubMed Count',NULL,2857,NULL,NULL,NULL,20,NULL,NULL,NULL),(21744,'NCBI Gene PubMed Count',NULL,2858,NULL,NULL,NULL,4,NULL,NULL,NULL),(21745,'NCBI Gene PubMed Count',NULL,2859,NULL,NULL,NULL,7,NULL,NULL,NULL),(21746,'NCBI Gene Summary',NULL,2860,NULL,'This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(21747,'NCBI Gene PubMed Count',NULL,2860,NULL,NULL,NULL,23,NULL,NULL,NULL),(21748,'NCBI Gene PubMed Count',NULL,2861,NULL,NULL,NULL,5,NULL,NULL,NULL),(21749,'NCBI Gene PubMed Count',NULL,2862,NULL,NULL,NULL,8,NULL,NULL,NULL),(21750,'NCBI Gene PubMed Count',NULL,2863,NULL,NULL,NULL,5,NULL,NULL,NULL),(21751,'NCBI Gene PubMed Count',NULL,2864,NULL,NULL,NULL,5,NULL,NULL,NULL),(21752,'NCBI Gene Summary',NULL,2865,NULL,'The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in response to endoplasmic reticulum stress and that the glutathione depletion enhances apoptosis. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(21753,'NCBI Gene PubMed Count',NULL,2865,NULL,NULL,NULL,7,NULL,NULL,NULL),(21754,'NCBI Gene PubMed Count',NULL,2866,NULL,NULL,NULL,7,NULL,NULL,NULL),(21755,'NCBI Gene PubMed Count',NULL,2867,NULL,NULL,NULL,6,NULL,NULL,NULL),(21756,'NCBI Gene PubMed Count',NULL,2868,NULL,NULL,NULL,1,NULL,NULL,NULL),(21757,'NCBI Gene Summary',NULL,2869,NULL,'This gene encodes a member of the gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signaling. This protein may also play a role in the unfolded protein response, and in regulation of glutathione levels and oxidative balance in the cell. Elevated expression of this gene may indicate increased risk of cancer recurrence among breast and ovarian cancer patients. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(21758,'NCBI Gene PubMed Count',NULL,2869,NULL,NULL,NULL,16,NULL,NULL,NULL),(21759,'NCBI Gene Summary',NULL,2870,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21760,'NCBI Gene PubMed Count',NULL,2870,NULL,NULL,NULL,13,NULL,NULL,NULL),(21761,'NCBI Gene Summary',NULL,2871,NULL,'Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21762,'NCBI Gene PubMed Count',NULL,2871,NULL,NULL,NULL,13,NULL,NULL,NULL),(21763,'NCBI Gene PubMed Count',NULL,2872,NULL,NULL,NULL,6,NULL,NULL,NULL),(21764,'NCBI Gene PubMed Count',NULL,2873,NULL,NULL,NULL,3,NULL,NULL,NULL),(21765,'NCBI Gene PubMed Count',NULL,2874,NULL,NULL,NULL,1,NULL,NULL,NULL),(21766,'NCBI Gene PubMed Count',NULL,2875,NULL,NULL,NULL,10,NULL,NULL,NULL),(21767,'NCBI Gene Summary',NULL,2876,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates medium-chain fatty acids such as laurate and myristate. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(21768,'NCBI Gene PubMed Count',NULL,2876,NULL,NULL,NULL,66,NULL,NULL,NULL),(21769,'NCBI Gene Summary',NULL,2877,NULL,'Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21770,'NCBI Gene PubMed Count',NULL,2877,NULL,NULL,NULL,46,NULL,NULL,NULL),(21771,'NCBI Gene Summary',NULL,2878,NULL,'This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(21772,'NCBI Gene PubMed Count',NULL,2878,NULL,NULL,NULL,21,NULL,NULL,NULL),(21773,'NCBI Gene Summary',NULL,2879,NULL,'This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(21774,'NCBI Gene PubMed Count',NULL,2879,NULL,NULL,NULL,9,NULL,NULL,NULL),(21775,'NCBI Gene PubMed Count',NULL,2880,NULL,NULL,NULL,1,NULL,NULL,NULL),(21776,'NCBI Gene Summary',NULL,2882,NULL,'This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Loss of the related gene in mouse results in a shortened circadian cycle in complete darkness. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(21777,'NCBI Gene PubMed Count',NULL,2882,NULL,NULL,NULL,83,NULL,NULL,NULL),(21778,'NCBI Gene Summary',NULL,2883,NULL,'This gene encodes a member of a family of tumor antigens. The protein is expressed in chondrosarcomas, but may also be expressed in normal tissues such as testis. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21779,'NCBI Gene PubMed Count',NULL,2883,NULL,NULL,NULL,6,NULL,NULL,NULL),(21780,'NCBI Gene Summary',NULL,2884,NULL,'Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21781,'NCBI Gene PubMed Count',NULL,2884,NULL,NULL,NULL,39,NULL,NULL,NULL),(21782,'NCBI Gene PubMed Count',NULL,2885,NULL,NULL,NULL,15,NULL,NULL,NULL),(21783,'NCBI Gene PubMed Count',NULL,2886,NULL,NULL,NULL,5,NULL,NULL,NULL),(21784,'NCBI Gene Summary',NULL,2887,NULL,'The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, while the ratio of 1 to 2 increases by term. Structural and expression differences provide avenues for developmental regulation and tissue specificity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21785,'NCBI Gene PubMed Count',NULL,2887,NULL,NULL,NULL,27,NULL,NULL,NULL),(21786,'NCBI Gene PubMed Count',NULL,2888,NULL,NULL,NULL,8,NULL,NULL,NULL),(21787,'NCBI Gene Summary',NULL,2889,NULL,'This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3\'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(21788,'NCBI Gene PubMed Count',NULL,2889,NULL,NULL,NULL,32,NULL,NULL,NULL),(21789,'NCBI Gene Summary',NULL,2890,NULL,'The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes. The active protein is found extracellularly. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(21790,'NCBI Gene PubMed Count',NULL,2890,NULL,NULL,NULL,194,NULL,NULL,NULL),(21791,'NCBI Gene PubMed Count',NULL,2891,NULL,NULL,NULL,89,NULL,NULL,NULL),(21792,'NCBI Gene Summary',NULL,2892,NULL,'The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved in cell proliferation, cell-cell interactions and function as a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(21793,'NCBI Gene PubMed Count',NULL,2892,NULL,NULL,NULL,27,NULL,NULL,NULL),(21794,'NCBI Gene PubMed Count',NULL,2893,NULL,NULL,NULL,13,NULL,NULL,NULL),(21795,'NCBI Gene PubMed Count',NULL,2894,NULL,NULL,NULL,6,NULL,NULL,NULL),(21796,'NCBI Gene PubMed Count',NULL,2895,NULL,NULL,NULL,9,NULL,NULL,NULL),(21797,'NCBI Gene PubMed Count',NULL,2896,NULL,NULL,NULL,2,NULL,NULL,NULL),(21798,'NCBI Gene Summary',NULL,2897,NULL,'This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(21799,'NCBI Gene PubMed Count',NULL,2897,NULL,NULL,NULL,36,NULL,NULL,NULL),(21800,'NCBI Gene PubMed Count',NULL,2898,NULL,NULL,NULL,14,NULL,NULL,NULL),(21801,'NCBI Gene Summary',NULL,2899,NULL,'This gene encodes a homeobox-containing transcription factor that is the homolog to the \'empty spiracles\' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(21802,'NCBI Gene PubMed Count',NULL,2899,NULL,NULL,NULL,39,NULL,NULL,NULL),(21803,'NCBI Gene Summary',NULL,2901,NULL,'Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(21804,'NCBI Gene PubMed Count',NULL,2901,NULL,NULL,NULL,36,NULL,NULL,NULL),(21805,'NCBI Gene Summary',NULL,2902,NULL,'The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(21806,'NCBI Gene PubMed Count',NULL,2902,NULL,NULL,NULL,11,NULL,NULL,NULL),(21807,'NCBI Gene Summary',NULL,2903,NULL,'The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(21808,'NCBI Gene PubMed Count',NULL,2903,NULL,NULL,NULL,10,NULL,NULL,NULL),(21809,'NCBI Gene PubMed Count',NULL,2904,NULL,NULL,NULL,11,NULL,NULL,NULL),(21810,'NCBI Gene PubMed Count',NULL,2905,NULL,NULL,NULL,6,NULL,NULL,NULL),(21811,'NCBI Gene Summary',NULL,2906,NULL,'Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21812,'NCBI Gene PubMed Count',NULL,2906,NULL,NULL,NULL,41,NULL,NULL,NULL),(21813,'NCBI Gene PubMed Count',NULL,2907,NULL,NULL,NULL,7,NULL,NULL,NULL),(21814,'NCBI Gene PubMed Count',NULL,2908,NULL,NULL,NULL,5,NULL,NULL,NULL),(21815,'NCBI Gene PubMed Count',NULL,2909,NULL,NULL,NULL,6,NULL,NULL,NULL),(21816,'NCBI Gene PubMed Count',NULL,2910,NULL,NULL,NULL,2,NULL,NULL,NULL),(21817,'NCBI Gene Summary',NULL,2911,NULL,'This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(21818,'NCBI Gene PubMed Count',NULL,2911,NULL,NULL,NULL,17,NULL,NULL,NULL),(21819,'NCBI Gene PubMed Count',NULL,2912,NULL,NULL,NULL,6,NULL,NULL,NULL),(21820,'NCBI Gene PubMed Count',NULL,2913,NULL,NULL,NULL,4,NULL,NULL,NULL),(21821,'NCBI Gene PubMed Count',NULL,2914,NULL,NULL,NULL,11,NULL,NULL,NULL),(21822,'NCBI Gene PubMed Count',NULL,2915,NULL,NULL,NULL,6,NULL,NULL,NULL),(21823,'NCBI Gene PubMed Count',NULL,2916,NULL,NULL,NULL,6,NULL,NULL,NULL),(21824,'NCBI Gene Summary',NULL,2917,NULL,'This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(21825,'NCBI Gene PubMed Count',NULL,2917,NULL,NULL,NULL,33,NULL,NULL,NULL),(21826,'NCBI Gene Summary',NULL,2918,NULL,'This locus represents a small inducible cytokine. The encoded protein, also known as macrophage inflammatory protein 1 alpha, plays a role in inflammatory responses through binding to the receptors CCR1, CCR4 and CCR5. Polymorphisms at this locus may be associated with both resistance and susceptibility to infection by human immunodeficiency virus type 1.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(21827,'NCBI Gene PubMed Count',NULL,2918,NULL,NULL,NULL,214,NULL,NULL,NULL),(21828,'NCBI Gene Summary',NULL,2919,NULL,'The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(21829,'NCBI Gene PubMed Count',NULL,2919,NULL,NULL,NULL,16,NULL,NULL,NULL),(21830,'NCBI Gene PubMed Count',NULL,2920,NULL,NULL,NULL,1,NULL,NULL,NULL),(21831,'NCBI Gene Summary',NULL,2921,NULL,'This gene belongs to the CD300 gene family, which in turn, belongs to the immunoglobulin (Ig) superfamily. This gene is located within a CD300 cluster on chromosome 17. The encoded protein may be involved in innate immunity as well as autoimmune response. A G>A mutation, represented by the single nucleotide polymorphism (SNP) rs905709, at the splice donor site of the 5\' terminal exon may be associated with lack of expression of this gene in homozygous (AA) individuals. The human reference assembly (GRCh38.p2) represents the \'A\' allele at this SNP. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(21832,'NCBI Gene PubMed Count',NULL,2921,NULL,NULL,NULL,1,NULL,NULL,NULL),(21833,'NCBI Gene PubMed Count',NULL,2922,NULL,NULL,NULL,5,NULL,NULL,NULL),(21834,'NCBI Gene PubMed Count',NULL,2923,NULL,NULL,NULL,1,NULL,NULL,NULL),(21835,'NCBI Gene Summary',NULL,2924,NULL,'The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(21836,'NCBI Gene PubMed Count',NULL,2924,NULL,NULL,NULL,74,NULL,NULL,NULL),(21837,'NCBI Gene Summary',NULL,2925,NULL,'This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21838,'NCBI Gene PubMed Count',NULL,2925,NULL,NULL,NULL,78,NULL,NULL,NULL),(21839,'NCBI Gene Summary',NULL,2926,NULL,'The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21840,'NCBI Gene PubMed Count',NULL,2926,NULL,NULL,NULL,107,NULL,NULL,NULL),(21841,'NCBI Gene Summary',NULL,2927,NULL,'The protein encoded by this gene is a surface antigen found on all peripheral blood T-cells. The encoded protein interacts with LFA3 (CD58) on antigen presenting cells to optimize immune recognition. A locus control region (LCR) has been found in the 3\' flanking sequence of this gene. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(21842,'NCBI Gene PubMed Count',NULL,2927,NULL,NULL,NULL,93,NULL,NULL,NULL),(21843,'NCBI Gene Summary',NULL,2928,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(21844,'NCBI Gene PubMed Count',NULL,2928,NULL,NULL,NULL,127,NULL,NULL,NULL),(21845,'NCBI Gene PubMed Count',NULL,2929,NULL,NULL,NULL,6,NULL,NULL,NULL),(21846,'NCBI Gene Summary',NULL,2930,NULL,'The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize antigens displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The functional coreceptor is either a homodimer composed of two alpha chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 beta chain isoforms. Multiple alternatively spliced transcript variants encoding distinct membrane associated or secreted isoforms have been described. A pseudogene, also located on chromosome 2, has been identified. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(21847,'NCBI Gene PubMed Count',NULL,2930,NULL,NULL,NULL,32,NULL,NULL,NULL),(21848,'NCBI Gene Summary',NULL,2931,NULL,'This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21849,'NCBI Gene PubMed Count',NULL,2931,NULL,NULL,NULL,76,NULL,NULL,NULL),(21850,'NCBI Gene Summary',NULL,2932,NULL,'This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to the plasma membrane and to recycling vesicles of the early endocytic system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(21851,'NCBI Gene PubMed Count',NULL,2932,NULL,NULL,NULL,89,NULL,NULL,NULL),(21852,'NCBI Gene Summary',NULL,2933,NULL,'The protein encoded by this gene may play a role in the attachment of stem cells to the bone marrow extracellular matrix or to stromal cells. This single-pass membrane protein is highly glycosylated and phosphorylated by protein kinase C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(21853,'NCBI Gene PubMed Count',NULL,2933,NULL,NULL,NULL,314,NULL,NULL,NULL),(21854,'NCBI Gene Summary',NULL,2934,NULL,'This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(21855,'NCBI Gene PubMed Count',NULL,2934,NULL,NULL,NULL,102,NULL,NULL,NULL),(21856,'NCBI Gene Summary',NULL,2935,NULL,'The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can act as a receptor for adenovirus subgroup B and may play a role in lupus neuropathy. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(21857,'NCBI Gene PubMed Count',NULL,2935,NULL,NULL,NULL,177,NULL,NULL,NULL),(21858,'NCBI Gene Summary',NULL,2936,NULL,'This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(21859,'NCBI Gene PubMed Count',NULL,2936,NULL,NULL,NULL,21,NULL,NULL,NULL),(21860,'NCBI Gene Summary',NULL,2937,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21861,'NCBI Gene PubMed Count',NULL,2937,NULL,NULL,NULL,103,NULL,NULL,NULL),(21862,'NCBI Gene Summary',NULL,2938,NULL,'This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(21863,'NCBI Gene PubMed Count',NULL,2938,NULL,NULL,NULL,18,NULL,NULL,NULL),(21864,'NCBI Gene Summary',NULL,2939,NULL,'This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent regulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(21865,'NCBI Gene PubMed Count',NULL,2939,NULL,NULL,NULL,79,NULL,NULL,NULL),(21866,'NCBI Gene Summary',NULL,2940,NULL,'This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(21867,'NCBI Gene PubMed Count',NULL,2940,NULL,NULL,NULL,21,NULL,NULL,NULL),(21868,'NCBI Gene Summary',NULL,2941,NULL,'The protein encoded by this gene contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase may activate cyclin-dependent kinase 2 and is involved in cell growth. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(21869,'NCBI Gene PubMed Count',NULL,2941,NULL,NULL,NULL,20,NULL,NULL,NULL),(21870,'NCBI Gene PubMed Count',NULL,2942,NULL,NULL,NULL,15,NULL,NULL,NULL),(21871,'NCBI Gene Summary',NULL,2943,NULL,'This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(21872,'NCBI Gene PubMed Count',NULL,2943,NULL,NULL,NULL,871,NULL,NULL,NULL),(21873,'NCBI Gene PubMed Count',NULL,2944,NULL,NULL,NULL,9,NULL,NULL,NULL),(21874,'NCBI Gene Summary',NULL,2945,NULL,'This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21875,'NCBI Gene PubMed Count',NULL,2945,NULL,NULL,NULL,399,NULL,NULL,NULL),(21876,'NCBI Gene Summary',NULL,2946,NULL,'The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21877,'NCBI Gene PubMed Count',NULL,2946,NULL,NULL,NULL,61,NULL,NULL,NULL),(21878,'NCBI Gene PubMed Count',NULL,2947,NULL,NULL,NULL,2,NULL,NULL,NULL),(21879,'NCBI Gene PubMed Count',NULL,2948,NULL,NULL,NULL,12,NULL,NULL,NULL),(21880,'NCBI Gene Summary',NULL,2949,NULL,'This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(21881,'NCBI Gene PubMed Count',NULL,2949,NULL,NULL,NULL,14,NULL,NULL,NULL),(21882,'NCBI Gene Summary',NULL,2950,NULL,'This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(21883,'NCBI Gene PubMed Count',NULL,2950,NULL,NULL,NULL,13,NULL,NULL,NULL),(21884,'NCBI Gene PubMed Count',NULL,2951,NULL,NULL,NULL,2,NULL,NULL,NULL),(21885,'NCBI Gene PubMed Count',NULL,2952,NULL,NULL,NULL,1,NULL,NULL,NULL),(21886,'NCBI Gene PubMed Count',NULL,2953,NULL,NULL,NULL,9,NULL,NULL,NULL),(21887,'NCBI Gene Summary',NULL,2954,NULL,'This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21888,'NCBI Gene PubMed Count',NULL,2954,NULL,NULL,NULL,37,NULL,NULL,NULL),(21889,'NCBI Gene Summary',NULL,2955,NULL,'This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5\' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21890,'NCBI Gene PubMed Count',NULL,2955,NULL,NULL,NULL,172,NULL,NULL,NULL),(21891,'NCBI Gene PubMed Count',NULL,2956,NULL,NULL,NULL,2,NULL,NULL,NULL),(21892,'NCBI Gene PubMed Count',NULL,2957,NULL,NULL,NULL,5,NULL,NULL,NULL),(21893,'NCBI Gene PubMed Count',NULL,2958,NULL,NULL,NULL,14,NULL,NULL,NULL),(21894,'NCBI Gene PubMed Count',NULL,2959,NULL,NULL,NULL,12,NULL,NULL,NULL),(21895,'NCBI Gene Summary',NULL,2960,NULL,'The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(21896,'NCBI Gene PubMed Count',NULL,2960,NULL,NULL,NULL,15,NULL,NULL,NULL),(21897,'NCBI Gene PubMed Count',NULL,2961,NULL,NULL,NULL,3,NULL,NULL,NULL),(21898,'NCBI Gene Summary',NULL,2962,NULL,'This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(21899,'NCBI Gene PubMed Count',NULL,2962,NULL,NULL,NULL,43,NULL,NULL,NULL),(21900,'NCBI Gene Summary',NULL,2963,NULL,'The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(21901,'NCBI Gene PubMed Count',NULL,2963,NULL,NULL,NULL,25,NULL,NULL,NULL),(21902,'NCBI Gene Summary',NULL,2964,NULL,'Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(21903,'NCBI Gene PubMed Count',NULL,2964,NULL,NULL,NULL,12,NULL,NULL,NULL),(21904,'NCBI Gene Summary',NULL,2965,NULL,'This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(21905,'NCBI Gene PubMed Count',NULL,2965,NULL,NULL,NULL,55,NULL,NULL,NULL),(21906,'NCBI Gene Summary',NULL,2966,NULL,'The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. A pseudogene of this gene is found on chromosome 1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(21907,'NCBI Gene PubMed Count',NULL,2966,NULL,NULL,NULL,30,NULL,NULL,NULL),(21908,'NCBI Gene Summary',NULL,2967,NULL,'Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(21909,'NCBI Gene PubMed Count',NULL,2967,NULL,NULL,NULL,36,NULL,NULL,NULL),(21910,'NCBI Gene Summary',NULL,2968,NULL,'The protein encoded by this gene is a member of the cyclin family of proteins. The encoded protein interacts with cyclin-dependent kinase 8 and induces the phophorylation of the carboxy-terminal domain of the large subunit of RNA polymerase II. The level of mRNAs for this gene peaks in the G1 phase of the cell cycle. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21911,'NCBI Gene PubMed Count',NULL,2968,NULL,NULL,NULL,48,NULL,NULL,NULL),(21912,'NCBI Gene Summary',NULL,2969,NULL,'The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(21913,'NCBI Gene PubMed Count',NULL,2969,NULL,NULL,NULL,18,NULL,NULL,NULL),(21914,'NCBI Gene Summary',NULL,2970,NULL,'This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21915,'NCBI Gene PubMed Count',NULL,2970,NULL,NULL,NULL,58,NULL,NULL,NULL),(21916,'NCBI Gene PubMed Count',NULL,2971,NULL,NULL,NULL,3,NULL,NULL,NULL),(21917,'NCBI Gene Summary',NULL,2972,NULL,'The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(21918,'NCBI Gene PubMed Count',NULL,2972,NULL,NULL,NULL,405,NULL,NULL,NULL),(21919,'NCBI Gene Summary',NULL,2973,NULL,'This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(21920,'NCBI Gene PubMed Count',NULL,2973,NULL,NULL,NULL,71,NULL,NULL,NULL),(21921,'NCBI Gene Summary',NULL,2974,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(21922,'NCBI Gene PubMed Count',NULL,2974,NULL,NULL,NULL,207,NULL,NULL,NULL),(21923,'NCBI Gene PubMed Count',NULL,2975,NULL,NULL,NULL,12,NULL,NULL,NULL),(21924,'NCBI Gene Summary',NULL,2976,NULL,'This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21925,'NCBI Gene PubMed Count',NULL,2976,NULL,NULL,NULL,192,NULL,NULL,NULL),(21926,'NCBI Gene Summary',NULL,2977,NULL,'Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(21927,'NCBI Gene PubMed Count',NULL,2977,NULL,NULL,NULL,14,NULL,NULL,NULL),(21928,'NCBI Gene Summary',NULL,2978,NULL,'This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(21929,'NCBI Gene PubMed Count',NULL,2978,NULL,NULL,NULL,21,NULL,NULL,NULL),(21930,'NCBI Gene Summary',NULL,2979,NULL,'This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(21931,'NCBI Gene PubMed Count',NULL,2979,NULL,NULL,NULL,20,NULL,NULL,NULL),(21932,'NCBI Gene Summary',NULL,2980,NULL,'This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(21933,'NCBI Gene PubMed Count',NULL,2980,NULL,NULL,NULL,34,NULL,NULL,NULL),(21934,'NCBI Gene Summary',NULL,2981,NULL,'This gene encodes a cell surface glycoprotein and member of the carcinoembryonic antigen (CEA) family of proteins. Expression of this gene may be downregulated in colon and rectal cancer. Additionally, lower expression levels of this gene may be predictive of rectal cancer recurrence. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(21935,'NCBI Gene PubMed Count',NULL,2981,NULL,NULL,NULL,32,NULL,NULL,NULL),(21936,'NCBI Gene Summary',NULL,2982,NULL,'This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(21937,'NCBI Gene PubMed Count',NULL,2982,NULL,NULL,NULL,404,NULL,NULL,NULL),(21938,'NCBI Gene PubMed Count',NULL,2983,NULL,NULL,NULL,11,NULL,NULL,NULL),(21939,'NCBI Gene PubMed Count',NULL,2984,NULL,NULL,NULL,1,NULL,NULL,NULL),(21940,'NCBI Gene Summary',NULL,2985,NULL,'Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(21941,'NCBI Gene PubMed Count',NULL,2985,NULL,NULL,NULL,19,NULL,NULL,NULL),(21942,'NCBI Gene PubMed Count',NULL,2986,NULL,NULL,NULL,4,NULL,NULL,NULL),(21943,'NCBI Gene Summary',NULL,2987,NULL,'This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(21944,'NCBI Gene PubMed Count',NULL,2987,NULL,NULL,NULL,28,NULL,NULL,NULL),(21945,'NCBI Gene PubMed Count',NULL,2988,NULL,NULL,NULL,6,NULL,NULL,NULL),(21946,'NCBI Gene Summary',NULL,2989,NULL,'This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21947,'NCBI Gene PubMed Count',NULL,2989,NULL,NULL,NULL,21,NULL,NULL,NULL),(21948,'NCBI Gene Summary',NULL,2990,NULL,'This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(21949,'NCBI Gene PubMed Count',NULL,2990,NULL,NULL,NULL,8,NULL,NULL,NULL),(21950,'NCBI Gene Summary',NULL,2991,NULL,'The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5\' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB1 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 155 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21951,'NCBI Gene PubMed Count',NULL,2991,NULL,NULL,NULL,18,NULL,NULL,NULL),(21952,'NCBI Gene Summary',NULL,2992,NULL,'The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5\' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB2 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 163 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21953,'NCBI Gene PubMed Count',NULL,2992,NULL,NULL,NULL,15,NULL,NULL,NULL),(21954,'NCBI Gene Summary',NULL,2993,NULL,'This metastasis suppressor gene product is a membrane glycoprotein that is a member of the transmembrane 4 superfamily. Expression of this gene has been shown to be downregulated in tumor progression of human cancers and can be activated by p53 through a consensus binding sequence in the promoter. Its expression and that of p53 are strongly correlated, and the loss of expression of these two proteins is associated with poor survival for prostate cancer patients. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21955,'NCBI Gene PubMed Count',NULL,2993,NULL,NULL,NULL,170,NULL,NULL,NULL),(21956,'NCBI Gene Summary',NULL,2994,NULL,'The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(21957,'NCBI Gene PubMed Count',NULL,2994,NULL,NULL,NULL,73,NULL,NULL,NULL),(21958,'NCBI Gene Summary',NULL,2995,NULL,'The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21959,'NCBI Gene PubMed Count',NULL,2995,NULL,NULL,NULL,43,NULL,NULL,NULL),(21960,'NCBI Gene Summary',NULL,2996,NULL,'This gene encodes a member of a family of serine/threonine protein kinases that participate in cell cycle regulation. The encoded protein is the catalytic subunit of the cyclin-dependent protein kinase complex, which regulates progression through the cell cycle. Activity of this protein is especially critical during the G1 to S phase transition. This protein associates with and regulated by other subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A), and p27Kip1 (CDKN1B). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(21961,'NCBI Gene PubMed Count',NULL,2996,NULL,NULL,NULL,513,NULL,NULL,NULL),(21962,'NCBI Gene PubMed Count',NULL,2997,NULL,NULL,NULL,3,NULL,NULL,NULL),(21963,'NCBI Gene Summary',NULL,2998,NULL,'This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(21964,'NCBI Gene PubMed Count',NULL,2998,NULL,NULL,NULL,1448,NULL,NULL,NULL),(21965,'NCBI Gene PubMed Count',NULL,2999,NULL,NULL,NULL,14,NULL,NULL,NULL),(21966,'NCBI Gene Summary',NULL,3000,NULL,'This gene encodes a proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead the protein, which is predominantly expressed at high levels in mammalian postmitotic central nervous system neurons, functions in diverse processes such as synaptic plasticity and neuronal migration through phosphorylation of proteins required for cytoskeletal organization, endocytosis and exocytosis, and apoptosis. In humans, an allelic variant of the gene that results in undetectable levels of the protein has been associated with lethal autosomal recessive lissencephaly-7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]',NULL,NULL,NULL,NULL,NULL),(21967,'NCBI Gene PubMed Count',NULL,3000,NULL,NULL,NULL,282,NULL,NULL,NULL),(21968,'NCBI Gene Summary',NULL,3001,NULL,'The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses, and may be involved in the regulation of genes associated with activation and/or differentiation of macrophages. The cytogenetic location of this locus has been reported as both 8p11 and 8q11. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(21969,'NCBI Gene PubMed Count',NULL,3001,NULL,NULL,NULL,74,NULL,NULL,NULL),(21970,'NCBI Gene PubMed Count',NULL,3002,NULL,NULL,NULL,4,NULL,NULL,NULL),(21971,'NCBI Gene Summary',NULL,3003,NULL,'This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21972,'NCBI Gene PubMed Count',NULL,3003,NULL,NULL,NULL,94,NULL,NULL,NULL),(21973,'NCBI Gene PubMed Count',NULL,3004,NULL,NULL,NULL,4,NULL,NULL,NULL),(21974,'NCBI Gene PubMed Count',NULL,3005,NULL,NULL,NULL,41,NULL,NULL,NULL),(21975,'NCBI Gene PubMed Count',NULL,3006,NULL,NULL,NULL,6,NULL,NULL,NULL),(21976,'NCBI Gene PubMed Count',NULL,3007,NULL,NULL,NULL,11,NULL,NULL,NULL),(21977,'NCBI Gene PubMed Count',NULL,3008,NULL,NULL,NULL,1,NULL,NULL,NULL),(21978,'NCBI Gene PubMed Count',NULL,3009,NULL,NULL,NULL,1,NULL,NULL,NULL),(21979,'NCBI Gene Summary',NULL,3010,NULL,'Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3A has little elastolytic activity. Like most of the human elastases, elastase 3A is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3A preferentially cleaves proteins after alanine residues. Elastase 3A may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21980,'NCBI Gene PubMed Count',NULL,3010,NULL,NULL,NULL,9,NULL,NULL,NULL),(21981,'NCBI Gene PubMed Count',NULL,3011,NULL,NULL,NULL,2,NULL,NULL,NULL),(21982,'NCBI Gene Summary',NULL,3012,NULL,'The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biogenesis, although its catalytic activity is not involved in the process. The yeast ortholog of this protein functions in the cytoplasm while this protein functions in the nucleus. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(21983,'NCBI Gene PubMed Count',NULL,3012,NULL,NULL,NULL,13,NULL,NULL,NULL),(21984,'NCBI Gene Summary',NULL,3013,NULL,'The protein encoded by this gene plays important roles in the determination of centrosome position and segregation, and in the process of microtubule severing. This protein is localized to the centrosome of interphase cells, and redistributes to the region of the spindle poles during mitosis, reflecting the dynamic behavior of the centrosome during the cell cycle. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(21985,'NCBI Gene PubMed Count',NULL,3013,NULL,NULL,NULL,16,NULL,NULL,NULL),(21986,'NCBI Gene PubMed Count',NULL,3014,NULL,NULL,NULL,1,NULL,NULL,NULL),(21987,'NCBI Gene Summary',NULL,3015,NULL,' Caltractin belongs to a family of calcium-binding proteins and is a structural component of the centrosome.  The high level of conservation from algae to humans and its association with the centrosome suggested that caltractin plays a fundamental role in the structure and function of the microtubule-organizing center, possibly required for the proper duplication and segregation of the centrosome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21988,'NCBI Gene PubMed Count',NULL,3015,NULL,NULL,NULL,61,NULL,NULL,NULL),(21989,'NCBI Gene PubMed Count',NULL,3016,NULL,NULL,NULL,2,NULL,NULL,NULL),(21990,'NCBI Gene Summary',NULL,3017,NULL,'The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(21991,'NCBI Gene PubMed Count',NULL,3017,NULL,NULL,NULL,327,NULL,NULL,NULL),(21992,'NCBI Gene PubMed Count',NULL,3018,NULL,NULL,NULL,1,NULL,NULL,NULL),(21993,'NCBI Gene PubMed Count',NULL,3019,NULL,NULL,NULL,5,NULL,NULL,NULL),(21994,'NCBI Gene Summary',NULL,3020,NULL,'Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(21995,'NCBI Gene PubMed Count',NULL,3020,NULL,NULL,NULL,19,NULL,NULL,NULL),(21996,'NCBI Gene PubMed Count',NULL,3021,NULL,NULL,NULL,4,NULL,NULL,NULL),(21997,'NCBI Gene Summary',NULL,3022,NULL,'This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(21998,'NCBI Gene PubMed Count',NULL,3022,NULL,NULL,NULL,145,NULL,NULL,NULL),(21999,'NCBI Gene Summary',NULL,3023,NULL,'This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 7 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22000,'NCBI Gene PubMed Count',NULL,3023,NULL,NULL,NULL,25,NULL,NULL,NULL),(22001,'NCBI Gene PubMed Count',NULL,3024,NULL,NULL,NULL,3,NULL,NULL,NULL),(22002,'NCBI Gene Summary',NULL,3025,NULL,'Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes.  The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin messenger RNA is present in chondrocytes at all ages. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22003,'NCBI Gene PubMed Count',NULL,3025,NULL,NULL,NULL,11,NULL,NULL,NULL),(22004,'NCBI Gene Summary',NULL,3026,NULL,'This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(22005,'NCBI Gene PubMed Count',NULL,3026,NULL,NULL,NULL,44,NULL,NULL,NULL),(22006,'NCBI Gene Summary',NULL,3027,NULL,'This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(22007,'NCBI Gene PubMed Count',NULL,3027,NULL,NULL,NULL,106,NULL,NULL,NULL),(22008,'NCBI Gene Summary',NULL,3028,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22009,'NCBI Gene PubMed Count',NULL,3028,NULL,NULL,NULL,74,NULL,NULL,NULL),(22010,'NCBI Gene Summary',NULL,3029,NULL,'Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as a heterotetramer, with a dimer of the 25 kDa subunit binding to two of the 59 or 68 kDa subunits. The protein encoded by this gene represents the 59 kDa subunit, which can interact with the splicing factor U2 snRNP Auxiliary Factor (U2AF) 65 to link the splicing and polyadenylation complexes. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(22011,'NCBI Gene PubMed Count',NULL,3029,NULL,NULL,NULL,20,NULL,NULL,NULL),(22012,'NCBI Gene PubMed Count',NULL,3030,NULL,NULL,NULL,3,NULL,NULL,NULL),(22013,'NCBI Gene PubMed Count',NULL,3031,NULL,NULL,NULL,2,NULL,NULL,NULL),(22014,'NCBI Gene Summary',NULL,3032,NULL,'The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(22015,'NCBI Gene PubMed Count',NULL,3032,NULL,NULL,NULL,82,NULL,NULL,NULL),(22016,'NCBI Gene Summary',NULL,3033,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22017,'NCBI Gene PubMed Count',NULL,3033,NULL,NULL,NULL,66,NULL,NULL,NULL),(22018,'NCBI Gene PubMed Count',NULL,3034,NULL,NULL,NULL,0,NULL,NULL,NULL),(22019,'NCBI Gene PubMed Count',NULL,3035,NULL,NULL,NULL,19,NULL,NULL,NULL),(22020,'NCBI Gene PubMed Count',NULL,3036,NULL,NULL,NULL,5,NULL,NULL,NULL),(22021,'NCBI Gene Summary',NULL,3037,NULL,'This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(22022,'NCBI Gene PubMed Count',NULL,3037,NULL,NULL,NULL,535,NULL,NULL,NULL),(22023,'NCBI Gene Summary',NULL,3038,NULL,'The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22024,'NCBI Gene PubMed Count',NULL,3038,NULL,NULL,NULL,81,NULL,NULL,NULL),(22025,'NCBI Gene Summary',NULL,3039,NULL,'The adenovirus E1A protein both activates and represses gene expression to promote cellular proliferation and inhibit differentiation. The protein encoded by this gene antagonizes transcriptional activation and cellular transformation by E1A. This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro. This gene may contribute to the transcriptional control of cell growth and differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22026,'NCBI Gene PubMed Count',NULL,3039,NULL,NULL,NULL,34,NULL,NULL,NULL),(22027,'NCBI Gene Summary',NULL,3040,NULL,'Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22028,'NCBI Gene PubMed Count',NULL,3040,NULL,NULL,NULL,27,NULL,NULL,NULL),(22029,'NCBI Gene Summary',NULL,3041,NULL,'Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22030,'NCBI Gene PubMed Count',NULL,3041,NULL,NULL,NULL,17,NULL,NULL,NULL),(22031,'NCBI Gene PubMed Count',NULL,3042,NULL,NULL,NULL,15,NULL,NULL,NULL),(22032,'NCBI Gene PubMed Count',NULL,3043,NULL,NULL,NULL,4,NULL,NULL,NULL),(22033,'NCBI Gene Summary',NULL,3044,NULL,'This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(22034,'NCBI Gene PubMed Count',NULL,3044,NULL,NULL,NULL,90,NULL,NULL,NULL),(22035,'NCBI Gene Summary',NULL,3045,NULL,'Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(22036,'NCBI Gene PubMed Count',NULL,3045,NULL,NULL,NULL,37,NULL,NULL,NULL),(22037,'NCBI Gene PubMed Count',NULL,3046,NULL,NULL,NULL,28,NULL,NULL,NULL),(22038,'NCBI Gene Summary',NULL,3047,NULL,'The protein encoded by this gene is thought to be involved in the control of complement. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(22039,'NCBI Gene PubMed Count',NULL,3047,NULL,NULL,NULL,20,NULL,NULL,NULL),(22040,'NCBI Gene Summary',NULL,3048,NULL,'This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(22041,'NCBI Gene PubMed Count',NULL,3048,NULL,NULL,NULL,29,NULL,NULL,NULL),(22042,'NCBI Gene PubMed Count',NULL,3049,NULL,NULL,NULL,4,NULL,NULL,NULL),(22043,'NCBI Gene PubMed Count',NULL,3050,NULL,NULL,NULL,5,NULL,NULL,NULL),(22044,'NCBI Gene PubMed Count',NULL,3051,NULL,NULL,NULL,4,NULL,NULL,NULL),(22045,'NCBI Gene PubMed Count',NULL,3052,NULL,NULL,NULL,0,NULL,NULL,NULL),(22046,'NCBI Gene PubMed Count',NULL,3053,NULL,NULL,NULL,10,NULL,NULL,NULL),(22047,'NCBI Gene Summary',NULL,3054,NULL,'The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of  cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22048,'NCBI Gene PubMed Count',NULL,3054,NULL,NULL,NULL,158,NULL,NULL,NULL),(22049,'NCBI Gene Summary',NULL,3055,NULL,'This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and motility. Alternate splice variants of this gene have been correlated with tumor invasiveness in certain tissues and these variants may serve as prognostic markers. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(22050,'NCBI Gene PubMed Count',NULL,3055,NULL,NULL,NULL,73,NULL,NULL,NULL),(22051,'NCBI Gene Summary',NULL,3056,NULL,'This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(22052,'NCBI Gene PubMed Count',NULL,3056,NULL,NULL,NULL,11,NULL,NULL,NULL),(22053,'NCBI Gene Summary',NULL,3057,NULL,'The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22054,'NCBI Gene PubMed Count',NULL,3057,NULL,NULL,NULL,41,NULL,NULL,NULL),(22055,'NCBI Gene Summary',NULL,3058,NULL,'This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(22056,'NCBI Gene PubMed Count',NULL,3058,NULL,NULL,NULL,169,NULL,NULL,NULL),(22057,'NCBI Gene Summary',NULL,3059,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(22058,'NCBI Gene PubMed Count',NULL,3059,NULL,NULL,NULL,56,NULL,NULL,NULL),(22059,'NCBI Gene Summary',NULL,3060,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22060,'NCBI Gene PubMed Count',NULL,3060,NULL,NULL,NULL,177,NULL,NULL,NULL),(22061,'NCBI Gene PubMed Count',NULL,3061,NULL,NULL,NULL,4,NULL,NULL,NULL),(22062,'NCBI Gene Summary',NULL,3063,NULL,'The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22063,'NCBI Gene PubMed Count',NULL,3063,NULL,NULL,NULL,14,NULL,NULL,NULL),(22064,'NCBI Gene PubMed Count',NULL,3064,NULL,NULL,NULL,12,NULL,NULL,NULL),(22065,'NCBI Gene Summary',NULL,3065,NULL,'The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(22066,'NCBI Gene PubMed Count',NULL,3065,NULL,NULL,NULL,30,NULL,NULL,NULL),(22067,'NCBI Gene Summary',NULL,3066,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22068,'NCBI Gene PubMed Count',NULL,3066,NULL,NULL,NULL,623,NULL,NULL,NULL),(22069,'NCBI Gene PubMed Count',NULL,3067,NULL,NULL,NULL,5,NULL,NULL,NULL),(22070,'NCBI Gene PubMed Count',NULL,3068,NULL,NULL,NULL,2,NULL,NULL,NULL),(22071,'NCBI Gene Summary',NULL,3069,NULL,'This gene encodes a protein that is part of the eurkaryotic translation initiation factor 3 complete (eIF-3) required for protein synthesis. Elevated levels of the encoded protein are present in cancer cell lines. Inactivation of the encoded protein has been shown to interfere with translation of herpes virus mRNAs by preventing the association of mRNAs with the ribosomes. A pseudogene of this gene is located on the X chromosome. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(22072,'NCBI Gene PubMed Count',NULL,3069,NULL,NULL,NULL,24,NULL,NULL,NULL),(22073,'NCBI Gene Summary',NULL,3070,NULL,'The protein encoded by this gene is a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex. The encoded protein is nearly identical to another protein, eIF3c, from a related gene. The eIF3 complex binds the 40S ribosome and mRNAs to enable translation initiation. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(22074,'NCBI Gene PubMed Count',NULL,3070,NULL,NULL,NULL,24,NULL,NULL,NULL),(22075,'NCBI Gene Summary',NULL,3071,NULL,'This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-response element and regulates cell proliferation. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. This protein also plays a role in leukocyte migration, tumor suppression, and endoplasmic reticulum stress-associated protein degradation. Additional transcript variants have been identified, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(22076,'NCBI Gene PubMed Count',NULL,3071,NULL,NULL,NULL,45,NULL,NULL,NULL),(22077,'NCBI Gene Summary',NULL,3072,NULL,'Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22078,'NCBI Gene PubMed Count',NULL,3072,NULL,NULL,NULL,13,NULL,NULL,NULL),(22079,'NCBI Gene Summary',NULL,3073,NULL,'This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(22080,'NCBI Gene PubMed Count',NULL,3073,NULL,NULL,NULL,27,NULL,NULL,NULL),(22081,'NCBI Gene Summary',NULL,3074,NULL,'This locus represents naturally occurring readthrough transcription between neighboring genes CRHR1-IT1, CRHR1 intronic transcript 1 (Gene ID: 147081) and CRHR1, corticotropin releasing hormone receptor 1 (Gene ID: 1394) on chromosome 17. The readthrough transcript encodes a protein that shares sequence identity with the product of the CRHR1 gene. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(22082,'NCBI Gene PubMed Count',NULL,3074,NULL,NULL,NULL,11,NULL,NULL,NULL),(22083,'NCBI Gene Summary',NULL,3075,NULL,'This gene encodes a member of the \"fused gene\" family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(22084,'NCBI Gene PubMed Count',NULL,3075,NULL,NULL,NULL,22,NULL,NULL,NULL),(22085,'NCBI Gene Summary',NULL,3076,NULL,'This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(22086,'NCBI Gene PubMed Count',NULL,3076,NULL,NULL,NULL,83,NULL,NULL,NULL),(22087,'NCBI Gene Summary',NULL,3077,NULL,'This gene encodes a protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(22088,'NCBI Gene PubMed Count',NULL,3077,NULL,NULL,NULL,153,NULL,NULL,NULL),(22089,'NCBI Gene PubMed Count',NULL,3078,NULL,NULL,NULL,18,NULL,NULL,NULL),(22090,'NCBI Gene PubMed Count',NULL,3079,NULL,NULL,NULL,3,NULL,NULL,NULL),(22091,'NCBI Gene PubMed Count',NULL,3080,NULL,NULL,NULL,14,NULL,NULL,NULL),(22092,'NCBI Gene Summary',NULL,3081,NULL,'The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(22093,'NCBI Gene PubMed Count',NULL,3081,NULL,NULL,NULL,224,NULL,NULL,NULL),(22094,'NCBI Gene Summary',NULL,3082,NULL,'Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. Multiple transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Apr 2018]',NULL,NULL,NULL,NULL,NULL),(22095,'NCBI Gene PubMed Count',NULL,3082,NULL,NULL,NULL,535,NULL,NULL,NULL),(22096,'NCBI Gene Summary',NULL,3083,NULL,'The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22097,'NCBI Gene PubMed Count',NULL,3083,NULL,NULL,NULL,12,NULL,NULL,NULL),(22098,'NCBI Gene Summary',NULL,3084,NULL,'This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(22099,'NCBI Gene PubMed Count',NULL,3084,NULL,NULL,NULL,188,NULL,NULL,NULL),(22100,'NCBI Gene Summary',NULL,3085,NULL,'This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(22101,'NCBI Gene PubMed Count',NULL,3085,NULL,NULL,NULL,46,NULL,NULL,NULL),(22102,'NCBI Gene PubMed Count',NULL,3086,NULL,NULL,NULL,11,NULL,NULL,NULL),(22103,'NCBI Gene PubMed Count',NULL,3087,NULL,NULL,NULL,34,NULL,NULL,NULL),(22104,'NCBI Gene PubMed Count',NULL,3088,NULL,NULL,NULL,8,NULL,NULL,NULL),(22105,'NCBI Gene PubMed Count',NULL,3089,NULL,NULL,NULL,1,NULL,NULL,NULL),(22106,'NCBI Gene PubMed Count',NULL,3090,NULL,NULL,NULL,5,NULL,NULL,NULL),(22107,'NCBI Gene PubMed Count',NULL,3091,NULL,NULL,NULL,1,NULL,NULL,NULL),(22108,'NCBI Gene PubMed Count',NULL,3092,NULL,NULL,NULL,5,NULL,NULL,NULL),(22109,'NCBI Gene PubMed Count',NULL,3093,NULL,NULL,NULL,4,NULL,NULL,NULL),(22110,'NCBI Gene PubMed Count',NULL,3094,NULL,NULL,NULL,1,NULL,NULL,NULL),(22111,'NCBI Gene PubMed Count',NULL,3095,NULL,NULL,NULL,4,NULL,NULL,NULL),(22112,'NCBI Gene Summary',NULL,3096,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(22113,'NCBI Gene PubMed Count',NULL,3096,NULL,NULL,NULL,659,NULL,NULL,NULL),(22114,'NCBI Gene Summary',NULL,3097,NULL,'This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(22115,'NCBI Gene PubMed Count',NULL,3097,NULL,NULL,NULL,16,NULL,NULL,NULL),(22116,'NCBI Gene PubMed Count',NULL,3098,NULL,NULL,NULL,4,NULL,NULL,NULL),(22117,'NCBI Gene Summary',NULL,3099,NULL,'This gene encodes a member of the copine family. Members of this family are calcium-dependent, phospholipid-binding proteins with C2 domains, two calcium- and phospholipid-binding domains. Through their domain structure and lipid binding capabilities, these proteins may play a role in membrane trafficking. This protein is thought to be brain-specific and has a domain structure of two N-terminal C2 domains and one von Willebrand factor A domain. It may have a role in synaptic plasticity. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(22118,'NCBI Gene PubMed Count',NULL,3099,NULL,NULL,NULL,16,NULL,NULL,NULL),(22119,'NCBI Gene PubMed Count',NULL,3100,NULL,NULL,NULL,4,NULL,NULL,NULL),(22120,'NCBI Gene PubMed Count',NULL,3101,NULL,NULL,NULL,7,NULL,NULL,NULL),(22121,'NCBI Gene Summary',NULL,3102,NULL,'Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22122,'NCBI Gene PubMed Count',NULL,3102,NULL,NULL,NULL,16,NULL,NULL,NULL),(22123,'NCBI Gene Summary',NULL,3103,NULL,'This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(22124,'NCBI Gene PubMed Count',NULL,3103,NULL,NULL,NULL,123,NULL,NULL,NULL),(22125,'NCBI Gene Summary',NULL,3104,NULL,'Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also defined as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22126,'NCBI Gene PubMed Count',NULL,3104,NULL,NULL,NULL,12,NULL,NULL,NULL),(22127,'NCBI Gene Summary',NULL,3105,NULL,'This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(22128,'NCBI Gene PubMed Count',NULL,3105,NULL,NULL,NULL,61,NULL,NULL,NULL),(22129,'NCBI Gene Summary',NULL,3106,NULL,'cAMP response element (CRE)-binding protein-like-2 (CREBL2) was identified in a search to find genes in a commonly deleted region on chromosome 12p13 flanked by ETV6 and CDKN1B genes, frequently associated with hematopoietic malignancies, as well as breast, non-small-cell lung and ovarian cancers. CREBL2 shares a 41% identity with CRE-binding protein (CREB) over a 48-base long region which encodes the bZip domain of CREB. The bZip domain consists of about 30 amino acids rich in basic residues involved in DNA binding, followed by a leucine zipper motif involved in protein dimerization. This suggests that CREBL2 encodes a protein with DNA binding capabilities. The occurance of CREBL2 deletion in malignancy suggests that CREBL2 may act as a tumor suppressor gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22130,'NCBI Gene PubMed Count',NULL,3106,NULL,NULL,NULL,9,NULL,NULL,NULL),(22131,'NCBI Gene Summary',NULL,3107,NULL,'The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22132,'NCBI Gene PubMed Count',NULL,3107,NULL,NULL,NULL,29,NULL,NULL,NULL),(22133,'NCBI Gene Summary',NULL,3108,NULL,'The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(22134,'NCBI Gene PubMed Count',NULL,3108,NULL,NULL,NULL,14,NULL,NULL,NULL),(22135,'NCBI Gene Summary',NULL,3109,NULL,'The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(22136,'NCBI Gene PubMed Count',NULL,3109,NULL,NULL,NULL,15,NULL,NULL,NULL),(22137,'NCBI Gene PubMed Count',NULL,3110,NULL,NULL,NULL,82,NULL,NULL,NULL),(22138,'NCBI Gene Summary',NULL,3111,NULL,'This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(22139,'NCBI Gene PubMed Count',NULL,3111,NULL,NULL,NULL,28,NULL,NULL,NULL),(22140,'NCBI Gene PubMed Count',NULL,3112,NULL,NULL,NULL,2,NULL,NULL,NULL),(22141,'NCBI Gene Summary',NULL,3113,NULL,'This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(22142,'NCBI Gene PubMed Count',NULL,3113,NULL,NULL,NULL,9,NULL,NULL,NULL),(22143,'NCBI Gene PubMed Count',NULL,3114,NULL,NULL,NULL,0,NULL,NULL,NULL),(22144,'NCBI Gene PubMed Count',NULL,3115,NULL,NULL,NULL,41,NULL,NULL,NULL),(22145,'NCBI Gene PubMed Count',NULL,3116,NULL,NULL,NULL,12,NULL,NULL,NULL),(22146,'NCBI Gene PubMed Count',NULL,3117,NULL,NULL,NULL,10,NULL,NULL,NULL),(22147,'NCBI Gene PubMed Count',NULL,3118,NULL,NULL,NULL,10,NULL,NULL,NULL),(22148,'NCBI Gene Summary',NULL,3119,NULL,'Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(22149,'NCBI Gene PubMed Count',NULL,3119,NULL,NULL,NULL,19,NULL,NULL,NULL),(22150,'NCBI Gene Summary',NULL,3120,NULL,'This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(22151,'NCBI Gene PubMed Count',NULL,3120,NULL,NULL,NULL,13,NULL,NULL,NULL),(22152,'NCBI Gene Summary',NULL,3121,NULL,'This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22153,'NCBI Gene PubMed Count',NULL,3121,NULL,NULL,NULL,23,NULL,NULL,NULL),(22154,'NCBI Gene PubMed Count',NULL,3122,NULL,NULL,NULL,9,NULL,NULL,NULL),(22155,'NCBI Gene Summary',NULL,3123,NULL,'This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(22156,'NCBI Gene PubMed Count',NULL,3123,NULL,NULL,NULL,165,NULL,NULL,NULL),(22157,'NCBI Gene Summary',NULL,3124,NULL,'ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22158,'NCBI Gene PubMed Count',NULL,3124,NULL,NULL,NULL,165,NULL,NULL,NULL),(22159,'NCBI Gene Summary',NULL,3125,NULL,'The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(22160,'NCBI Gene PubMed Count',NULL,3125,NULL,NULL,NULL,37,NULL,NULL,NULL),(22161,'NCBI Gene Summary',NULL,3126,NULL,'The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22162,'NCBI Gene PubMed Count',NULL,3126,NULL,NULL,NULL,10,NULL,NULL,NULL),(22163,'NCBI Gene PubMed Count',NULL,3127,NULL,NULL,NULL,3,NULL,NULL,NULL),(22164,'NCBI Gene PubMed Count',NULL,3128,NULL,NULL,NULL,8,NULL,NULL,NULL),(22165,'NCBI Gene Summary',NULL,3129,NULL,'Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(22166,'NCBI Gene PubMed Count',NULL,3129,NULL,NULL,NULL,2,NULL,NULL,NULL),(22167,'NCBI Gene Summary',NULL,3130,NULL,'This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. Expression of this gene is regulated by androgen, and the encoded protein binds to sperm and exhibits antibacterial activity against E. coli. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22168,'NCBI Gene PubMed Count',NULL,3130,NULL,NULL,NULL,13,NULL,NULL,NULL),(22169,'NCBI Gene PubMed Count',NULL,3131,NULL,NULL,NULL,9,NULL,NULL,NULL),(22170,'NCBI Gene Summary',NULL,3132,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22171,'NCBI Gene PubMed Count',NULL,3132,NULL,NULL,NULL,4,NULL,NULL,NULL),(22172,'NCBI Gene PubMed Count',NULL,3133,NULL,NULL,NULL,1,NULL,NULL,NULL),(22173,'NCBI Gene Summary',NULL,3134,NULL,'This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(22174,'NCBI Gene PubMed Count',NULL,3134,NULL,NULL,NULL,33,NULL,NULL,NULL),(22175,'NCBI Gene PubMed Count',NULL,3135,NULL,NULL,NULL,38,NULL,NULL,NULL),(22176,'NCBI Gene Summary',NULL,3136,NULL,'This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(22177,'NCBI Gene PubMed Count',NULL,3136,NULL,NULL,NULL,13,NULL,NULL,NULL),(22178,'NCBI Gene PubMed Count',NULL,3137,NULL,NULL,NULL,4,NULL,NULL,NULL),(22179,'NCBI Gene Summary',NULL,3138,NULL,'This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(22180,'NCBI Gene PubMed Count',NULL,3138,NULL,NULL,NULL,15,NULL,NULL,NULL),(22181,'NCBI Gene PubMed Count',NULL,3139,NULL,NULL,NULL,12,NULL,NULL,NULL),(22182,'NCBI Gene PubMed Count',NULL,3140,NULL,NULL,NULL,22,NULL,NULL,NULL),(22183,'NCBI Gene Summary',NULL,3141,NULL,'This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(22184,'NCBI Gene PubMed Count',NULL,3141,NULL,NULL,NULL,121,NULL,NULL,NULL),(22185,'NCBI Gene Summary',NULL,3142,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(22186,'NCBI Gene PubMed Count',NULL,3142,NULL,NULL,NULL,11,NULL,NULL,NULL),(22187,'NCBI Gene Summary',NULL,3143,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(22188,'NCBI Gene PubMed Count',NULL,3143,NULL,NULL,NULL,57,NULL,NULL,NULL),(22189,'NCBI Gene PubMed Count',NULL,3144,NULL,NULL,NULL,12,NULL,NULL,NULL),(22190,'NCBI Gene PubMed Count',NULL,3145,NULL,NULL,NULL,7,NULL,NULL,NULL),(22191,'NCBI Gene Summary',NULL,3146,NULL,'The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer\'s disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(22192,'NCBI Gene PubMed Count',NULL,3146,NULL,NULL,NULL,58,NULL,NULL,NULL),(22193,'NCBI Gene PubMed Count',NULL,3147,NULL,NULL,NULL,5,NULL,NULL,NULL),(22194,'NCBI Gene PubMed Count',NULL,3148,NULL,NULL,NULL,75,NULL,NULL,NULL),(22195,'NCBI Gene Summary',NULL,3149,NULL,'The protein encoded by this gene is similar in sequence to 3\'/5\' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(22196,'NCBI Gene PubMed Count',NULL,3149,NULL,NULL,NULL,23,NULL,NULL,NULL),(22197,'NCBI Gene PubMed Count',NULL,3150,NULL,NULL,NULL,13,NULL,NULL,NULL),(22198,'NCBI Gene PubMed Count',NULL,3151,NULL,NULL,NULL,4,NULL,NULL,NULL),(22199,'NCBI Gene Summary',NULL,3152,NULL,'This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis.  It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22200,'NCBI Gene PubMed Count',NULL,3152,NULL,NULL,NULL,33,NULL,NULL,NULL),(22201,'NCBI Gene PubMed Count',NULL,3153,NULL,NULL,NULL,2,NULL,NULL,NULL),(22202,'NCBI Gene Summary',NULL,3154,NULL,'Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. The protein encoded by this gene is a beta-defensin with antimicrobial activity against E. coli, S. aureus, and C. albicans. The encoded protein also binds and neutralizes lipopolysaccharide (LPS), a factor involved in inflammatory diseases and male reproductive issues. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22203,'NCBI Gene PubMed Count',NULL,3154,NULL,NULL,NULL,4,NULL,NULL,NULL),(22204,'NCBI Gene Summary',NULL,3155,NULL,'This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22205,'NCBI Gene PubMed Count',NULL,3155,NULL,NULL,NULL,5,NULL,NULL,NULL),(22206,'NCBI Gene PubMed Count',NULL,3156,NULL,NULL,NULL,8,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (22207,'NCBI Gene Summary',NULL,3157,NULL,'This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22208,'NCBI Gene PubMed Count',NULL,3157,NULL,NULL,NULL,30,NULL,NULL,NULL),(22209,'NCBI Gene Summary',NULL,3158,NULL,'This gene encodes a regulator of the cell division cycle 7 homolog (S. cerevisiae) protein, a serine-threonine kinase which links cell cycle regulation to genome duplication. This protein localizes to the nucleus and, in complex with the cell division cycle 7 homolog (S. cerevisiae) protein, may facilitate M phase progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(22210,'NCBI Gene PubMed Count',NULL,3158,NULL,NULL,NULL,12,NULL,NULL,NULL),(22211,'NCBI Gene Summary',NULL,3159,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22212,'NCBI Gene PubMed Count',NULL,3159,NULL,NULL,NULL,4,NULL,NULL,NULL),(22213,'NCBI Gene PubMed Count',NULL,3160,NULL,NULL,NULL,8,NULL,NULL,NULL),(22214,'NCBI Gene Summary',NULL,3161,NULL,'This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(22215,'NCBI Gene PubMed Count',NULL,3161,NULL,NULL,NULL,147,NULL,NULL,NULL),(22216,'NCBI Gene Summary',NULL,3162,NULL,'This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia (\"double cortex\" syndrome) in females and lissencephaly (\"smooth brain\" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(22217,'NCBI Gene PubMed Count',NULL,3162,NULL,NULL,NULL,86,NULL,NULL,NULL),(22218,'NCBI Gene Summary',NULL,3163,NULL,'This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(22219,'NCBI Gene PubMed Count',NULL,3163,NULL,NULL,NULL,231,NULL,NULL,NULL),(22220,'NCBI Gene Summary',NULL,3164,NULL,'This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22221,'NCBI Gene PubMed Count',NULL,3164,NULL,NULL,NULL,21,NULL,NULL,NULL),(22222,'NCBI Gene PubMed Count',NULL,3165,NULL,NULL,NULL,14,NULL,NULL,NULL),(22223,'NCBI Gene Summary',NULL,3166,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22224,'NCBI Gene PubMed Count',NULL,3166,NULL,NULL,NULL,17,NULL,NULL,NULL),(22225,'NCBI Gene Summary',NULL,3167,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3\' end formation of 47S rRNA. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(22226,'NCBI Gene PubMed Count',NULL,3167,NULL,NULL,NULL,17,NULL,NULL,NULL),(22227,'NCBI Gene Summary',NULL,3168,NULL,'Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(22228,'NCBI Gene PubMed Count',NULL,3168,NULL,NULL,NULL,70,NULL,NULL,NULL),(22229,'NCBI Gene Summary',NULL,3169,NULL,'The function of this gene is not known. This gene is located in a region commonly deleted in esophageal squamous cell carcinomas.  Gene expression is reduced or absent in these carcinomas and thus this is a candidate tumor suppressor gene for esophageal squamous cell carcinomas. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22230,'NCBI Gene PubMed Count',NULL,3169,NULL,NULL,NULL,16,NULL,NULL,NULL),(22231,'NCBI Gene Summary',NULL,3170,NULL,'This gene encodes a member of the DEAD box family of RNA helicases that are involved in a variety of cellular processes as a result of its role as an adaptor molecule, promoting interactions with a large number of other factors. This protein is involved in pathways that include the alteration of RNA structures, plays a role as a coregulator of transcription, a regulator of splicing, and in the processing of small noncoding RNAs. Members of this family contain nine conserved motifs, including the conserved Asp-Glu-Ala-Asp (DEAD) motif, important to ATP binding and hydrolysis as well as RNA binding and unwinding activities. Dysregulation of this gene may play a role in cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(22232,'NCBI Gene PubMed Count',NULL,3170,NULL,NULL,NULL,123,NULL,NULL,NULL),(22233,'NCBI Gene Summary',NULL,3171,NULL,'This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22234,'NCBI Gene PubMed Count',NULL,3171,NULL,NULL,NULL,14,NULL,NULL,NULL),(22235,'NCBI Gene PubMed Count',NULL,3172,NULL,NULL,NULL,8,NULL,NULL,NULL),(22236,'NCBI Gene PubMed Count',NULL,3173,NULL,NULL,NULL,11,NULL,NULL,NULL),(22237,'NCBI Gene Summary',NULL,3174,NULL,'This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(22238,'NCBI Gene PubMed Count',NULL,3174,NULL,NULL,NULL,8,NULL,NULL,NULL),(22239,'NCBI Gene PubMed Count',NULL,3175,NULL,NULL,NULL,4,NULL,NULL,NULL),(22240,'NCBI Gene PubMed Count',NULL,3176,NULL,NULL,NULL,3,NULL,NULL,NULL),(22241,'NCBI Gene Summary',NULL,3177,NULL,'The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(22242,'NCBI Gene PubMed Count',NULL,3177,NULL,NULL,NULL,64,NULL,NULL,NULL),(22243,'NCBI Gene Summary',NULL,3178,NULL,'The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(22244,'NCBI Gene PubMed Count',NULL,3178,NULL,NULL,NULL,35,NULL,NULL,NULL),(22245,'NCBI Gene Summary',NULL,3179,NULL,'This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(22246,'NCBI Gene PubMed Count',NULL,3179,NULL,NULL,NULL,121,NULL,NULL,NULL),(22247,'NCBI Gene Summary',NULL,3180,NULL,'Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(22248,'NCBI Gene PubMed Count',NULL,3180,NULL,NULL,NULL,3,NULL,NULL,NULL),(22249,'NCBI Gene Summary',NULL,3181,NULL,'This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(22250,'NCBI Gene PubMed Count',NULL,3181,NULL,NULL,NULL,43,NULL,NULL,NULL),(22251,'NCBI Gene PubMed Count',NULL,3182,NULL,NULL,NULL,9,NULL,NULL,NULL),(22252,'NCBI Gene Summary',NULL,3183,NULL,'The protein encoded by this gene is a key component of an mRNA-decapping complex required for degradation of mRNAs, both in normal mRNA turnover, and in nonsense-mediated mRNA decay (NMD). It removes the 7-methyl guanine cap structure from mRNA, prior to its degradation from the 5\' end. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(22253,'NCBI Gene PubMed Count',NULL,3183,NULL,NULL,NULL,42,NULL,NULL,NULL),(22254,'NCBI Gene PubMed Count',NULL,3184,NULL,NULL,NULL,8,NULL,NULL,NULL),(22255,'NCBI Gene PubMed Count',NULL,3185,NULL,NULL,NULL,17,NULL,NULL,NULL),(22256,'NCBI Gene Summary',NULL,3186,NULL,'This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(22257,'NCBI Gene PubMed Count',NULL,3186,NULL,NULL,NULL,48,NULL,NULL,NULL),(22258,'NCBI Gene Summary',NULL,3187,NULL,'The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(22259,'NCBI Gene PubMed Count',NULL,3187,NULL,NULL,NULL,32,NULL,NULL,NULL),(22260,'NCBI Gene Summary',NULL,3188,NULL,'This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(22261,'NCBI Gene PubMed Count',NULL,3188,NULL,NULL,NULL,104,NULL,NULL,NULL),(22262,'NCBI Gene PubMed Count',NULL,3189,NULL,NULL,NULL,74,NULL,NULL,NULL),(22263,'NCBI Gene Summary',NULL,3190,NULL,'This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(22264,'NCBI Gene PubMed Count',NULL,3190,NULL,NULL,NULL,26,NULL,NULL,NULL),(22265,'NCBI Gene Summary',NULL,3191,NULL,'This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprised of two RecA-like globular domains. These domains contain conserved motifs that mediate ATP binding, ATP hydrolysis, nucleic acid binding, and RNA unwinding. In addition to functions in RNA metabolism, members of this family are involved in anti-viral immunity and act as cytosolic sensors of viral nucleic acids. The protein encoded by this gene has been shown to inhibit hepatitis C virus replication in response to interferon stimulation in cell culture. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(22266,'NCBI Gene PubMed Count',NULL,3191,NULL,NULL,NULL,5,NULL,NULL,NULL),(22267,'NCBI Gene Summary',NULL,3192,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22268,'NCBI Gene PubMed Count',NULL,3192,NULL,NULL,NULL,4,NULL,NULL,NULL),(22269,'NCBI Gene Summary',NULL,3193,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22270,'NCBI Gene PubMed Count',NULL,3193,NULL,NULL,NULL,21,NULL,NULL,NULL),(22271,'NCBI Gene PubMed Count',NULL,3194,NULL,NULL,NULL,9,NULL,NULL,NULL),(22272,'NCBI Gene Summary',NULL,3195,NULL,'This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22273,'NCBI Gene PubMed Count',NULL,3195,NULL,NULL,NULL,74,NULL,NULL,NULL),(22274,'NCBI Gene Summary',NULL,3196,NULL,'The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(22275,'NCBI Gene PubMed Count',NULL,3196,NULL,NULL,NULL,106,NULL,NULL,NULL),(22276,'NCBI Gene Summary',NULL,3197,NULL,'This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22277,'NCBI Gene PubMed Count',NULL,3197,NULL,NULL,NULL,21,NULL,NULL,NULL),(22278,'NCBI Gene Summary',NULL,3198,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(22279,'NCBI Gene PubMed Count',NULL,3198,NULL,NULL,NULL,23,NULL,NULL,NULL),(22280,'NCBI Gene Summary',NULL,3199,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22281,'NCBI Gene PubMed Count',NULL,3199,NULL,NULL,NULL,14,NULL,NULL,NULL),(22282,'NCBI Gene Summary',NULL,3200,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of immune response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22283,'NCBI Gene PubMed Count',NULL,3200,NULL,NULL,NULL,368,NULL,NULL,NULL),(22284,'NCBI Gene Summary',NULL,3201,NULL,'Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(22285,'NCBI Gene PubMed Count',NULL,3201,NULL,NULL,NULL,20,NULL,NULL,NULL),(22286,'NCBI Gene Summary',NULL,3202,NULL,' The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22287,'NCBI Gene PubMed Count',NULL,3202,NULL,NULL,NULL,22,NULL,NULL,NULL),(22288,'NCBI Gene PubMed Count',NULL,3203,NULL,NULL,NULL,11,NULL,NULL,NULL),(22289,'NCBI Gene PubMed Count',NULL,3204,NULL,NULL,NULL,14,NULL,NULL,NULL),(22290,'NCBI Gene Summary',NULL,3205,NULL,'This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(22291,'NCBI Gene PubMed Count',NULL,3205,NULL,NULL,NULL,17,NULL,NULL,NULL),(22292,'NCBI Gene Summary',NULL,3206,NULL,'Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(22293,'NCBI Gene PubMed Count',NULL,3206,NULL,NULL,NULL,20,NULL,NULL,NULL),(22294,'NCBI Gene PubMed Count',NULL,3207,NULL,NULL,NULL,9,NULL,NULL,NULL),(22295,'NCBI Gene Summary',NULL,3208,NULL,'This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(22296,'NCBI Gene PubMed Count',NULL,3208,NULL,NULL,NULL,38,NULL,NULL,NULL),(22297,'NCBI Gene PubMed Count',NULL,3209,NULL,NULL,NULL,8,NULL,NULL,NULL),(22298,'NCBI Gene Summary',NULL,3210,NULL,'Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(22299,'NCBI Gene PubMed Count',NULL,3210,NULL,NULL,NULL,2,NULL,NULL,NULL),(22300,'NCBI Gene Summary',NULL,3211,NULL,'Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(22301,'NCBI Gene PubMed Count',NULL,3211,NULL,NULL,NULL,60,NULL,NULL,NULL),(22302,'NCBI Gene PubMed Count',NULL,3212,NULL,NULL,NULL,7,NULL,NULL,NULL),(22303,'NCBI Gene Summary',NULL,3213,NULL,'Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(22304,'NCBI Gene PubMed Count',NULL,3213,NULL,NULL,NULL,14,NULL,NULL,NULL),(22305,'NCBI Gene Summary',NULL,3214,NULL,'C17 is a cytokine-like protein specifically expressed in bone marrow and cord blood mononuclear cells that bear the CD34 (MIM 142230) surface marker (Liu et al., 2000 [PubMed 10857752]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(22306,'NCBI Gene PubMed Count',NULL,3214,NULL,NULL,NULL,15,NULL,NULL,NULL),(22307,'NCBI Gene PubMed Count',NULL,3215,NULL,NULL,NULL,2,NULL,NULL,NULL),(22308,'NCBI Gene PubMed Count',NULL,3216,NULL,NULL,NULL,1,NULL,NULL,NULL),(22309,'NCBI Gene Summary',NULL,3217,NULL,'Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(22310,'NCBI Gene PubMed Count',NULL,3217,NULL,NULL,NULL,35,NULL,NULL,NULL),(22311,'NCBI Gene PubMed Count',NULL,3218,NULL,NULL,NULL,24,NULL,NULL,NULL),(22312,'NCBI Gene Summary',NULL,3219,NULL,'This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22313,'NCBI Gene PubMed Count',NULL,3219,NULL,NULL,NULL,10,NULL,NULL,NULL),(22314,'NCBI Gene Summary',NULL,3220,NULL,'This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(22315,'NCBI Gene PubMed Count',NULL,3220,NULL,NULL,NULL,132,NULL,NULL,NULL),(22316,'NCBI Gene Summary',NULL,3221,NULL,'This gene encodes a protein with a domain similar to one found in dendritic cells (PMID:11169400) which play a key role in antigen processing and display for immune responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(22317,'NCBI Gene PubMed Count',NULL,3221,NULL,NULL,NULL,5,NULL,NULL,NULL),(22318,'NCBI Gene Summary',NULL,3222,NULL,'This gene encodes a member of a family of proteins that function in removing the 5\' cap from mRNAs, which is a step in regulated mRNA decay. This protein localizes to cytoplasmic foci which are the site of mRNA breakdown and turnover. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(22319,'NCBI Gene PubMed Count',NULL,3222,NULL,NULL,NULL,21,NULL,NULL,NULL),(22320,'NCBI Gene Summary',NULL,3223,NULL,'This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(22321,'NCBI Gene PubMed Count',NULL,3223,NULL,NULL,NULL,75,NULL,NULL,NULL),(22322,'NCBI Gene Summary',NULL,3224,NULL,'This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(22323,'NCBI Gene PubMed Count',NULL,3224,NULL,NULL,NULL,22,NULL,NULL,NULL),(22324,'NCBI Gene Summary',NULL,3225,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22325,'NCBI Gene PubMed Count',NULL,3225,NULL,NULL,NULL,15,NULL,NULL,NULL),(22326,'NCBI Gene Summary',NULL,3226,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22327,'NCBI Gene PubMed Count',NULL,3226,NULL,NULL,NULL,9,NULL,NULL,NULL),(22328,'NCBI Gene PubMed Count',NULL,3227,NULL,NULL,NULL,8,NULL,NULL,NULL),(22329,'NCBI Gene PubMed Count',NULL,3228,NULL,NULL,NULL,19,NULL,NULL,NULL),(22330,'NCBI Gene Summary',NULL,3229,NULL,'This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22331,'NCBI Gene PubMed Count',NULL,3229,NULL,NULL,NULL,69,NULL,NULL,NULL),(22332,'NCBI Gene Summary',NULL,3230,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22333,'NCBI Gene PubMed Count',NULL,3230,NULL,NULL,NULL,3,NULL,NULL,NULL),(22334,'NCBI Gene PubMed Count',NULL,3231,NULL,NULL,NULL,4,NULL,NULL,NULL),(22335,'NCBI Gene Summary',NULL,3232,NULL,'This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(22336,'NCBI Gene PubMed Count',NULL,3232,NULL,NULL,NULL,17,NULL,NULL,NULL),(22337,'NCBI Gene Summary',NULL,3233,NULL,'This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(22338,'NCBI Gene PubMed Count',NULL,3233,NULL,NULL,NULL,34,NULL,NULL,NULL),(22339,'NCBI Gene Summary',NULL,3234,NULL,'Decapping is a key step in general and regulated mRNA decay. The protein encoded by this gene is a decapping enzyme. This protein and another decapping enzyme form a decapping complex, which interacts with the nonsense-mediated decay factor hUpf1 and may be recruited to mRNAs containing premature termination codons. This protein also participates in the TGF-beta signaling pathway. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(22340,'NCBI Gene PubMed Count',NULL,3234,NULL,NULL,NULL,51,NULL,NULL,NULL),(22341,'NCBI Gene Summary',NULL,3235,NULL,'This intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of major depression in humans. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22342,'NCBI Gene PubMed Count',NULL,3235,NULL,NULL,NULL,14,NULL,NULL,NULL),(22343,'NCBI Gene Summary',NULL,3236,NULL,'This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(22344,'NCBI Gene PubMed Count',NULL,3236,NULL,NULL,NULL,85,NULL,NULL,NULL),(22345,'NCBI Gene Summary',NULL,3237,NULL,'This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(22346,'NCBI Gene PubMed Count',NULL,3237,NULL,NULL,NULL,19,NULL,NULL,NULL),(22347,'NCBI Gene Summary',NULL,3238,NULL,'Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(22348,'NCBI Gene PubMed Count',NULL,3238,NULL,NULL,NULL,149,NULL,NULL,NULL),(22349,'NCBI Gene Summary',NULL,3239,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(22350,'NCBI Gene PubMed Count',NULL,3239,NULL,NULL,NULL,33,NULL,NULL,NULL),(22351,'NCBI Gene Summary',NULL,3240,NULL,'The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3\' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22352,'NCBI Gene PubMed Count',NULL,3240,NULL,NULL,NULL,27,NULL,NULL,NULL),(22353,'NCBI Gene Summary',NULL,3241,NULL,'Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(22354,'NCBI Gene PubMed Count',NULL,3241,NULL,NULL,NULL,34,NULL,NULL,NULL),(22355,'NCBI Gene PubMed Count',NULL,3242,NULL,NULL,NULL,7,NULL,NULL,NULL),(22356,'NCBI Gene PubMed Count',NULL,3243,NULL,NULL,NULL,17,NULL,NULL,NULL),(22357,'NCBI Gene PubMed Count',NULL,3244,NULL,NULL,NULL,7,NULL,NULL,NULL),(22358,'NCBI Gene PubMed Count',NULL,3245,NULL,NULL,NULL,4,NULL,NULL,NULL),(22359,'NCBI Gene PubMed Count',NULL,3246,NULL,NULL,NULL,6,NULL,NULL,NULL),(22360,'NCBI Gene Summary',NULL,3247,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22361,'NCBI Gene PubMed Count',NULL,3247,NULL,NULL,NULL,42,NULL,NULL,NULL),(22362,'NCBI Gene Summary',NULL,3248,NULL,'This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of programmed cell death that is induced by interferon-gamma. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(22363,'NCBI Gene PubMed Count',NULL,3248,NULL,NULL,NULL,19,NULL,NULL,NULL),(22364,'NCBI Gene Summary',NULL,3249,NULL,'This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(22365,'NCBI Gene PubMed Count',NULL,3249,NULL,NULL,NULL,55,NULL,NULL,NULL),(22366,'NCBI Gene Summary',NULL,3250,NULL,'The protein encoded by this gene catalyzes the deamination of dCMP to dUMP, the nucleotide substrate for thymidylate synthase. The encoded protein is allosterically activated by dCTP and inhibited by dTTP, and is found as a homohexamer. This protein uses zinc as a cofactor for its activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22367,'NCBI Gene PubMed Count',NULL,3250,NULL,NULL,NULL,21,NULL,NULL,NULL),(22368,'NCBI Gene Summary',NULL,3251,NULL,'The protein encoded by this gene is dCTP pyrophosphatase, which converts dCTP to dCMP and inorganic pyrophosphate. The encoded protein also displays weak activity against dTTP and dATP, but none against dGTP. This protein may be responsible for eliminating excess dCTP after DNA synthesis and may prevent overmethylation of CpG islands. Three transcript variants, one protein-coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(22369,'NCBI Gene PubMed Count',NULL,3251,NULL,NULL,NULL,14,NULL,NULL,NULL),(22370,'NCBI Gene PubMed Count',NULL,3252,NULL,NULL,NULL,36,NULL,NULL,NULL),(22371,'NCBI Gene PubMed Count',NULL,3253,NULL,NULL,NULL,3,NULL,NULL,NULL),(22372,'NCBI Gene PubMed Count',NULL,3254,NULL,NULL,NULL,8,NULL,NULL,NULL),(22373,'NCBI Gene PubMed Count',NULL,3255,NULL,NULL,NULL,7,NULL,NULL,NULL),(22374,'NCBI Gene Summary',NULL,3256,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22375,'NCBI Gene PubMed Count',NULL,3256,NULL,NULL,NULL,486,NULL,NULL,NULL),(22376,'NCBI Gene Summary',NULL,3257,NULL,'This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(22377,'NCBI Gene PubMed Count',NULL,3257,NULL,NULL,NULL,17,NULL,NULL,NULL),(22378,'NCBI Gene Summary',NULL,3258,NULL,'Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(22379,'NCBI Gene PubMed Count',NULL,3258,NULL,NULL,NULL,25,NULL,NULL,NULL),(22380,'NCBI Gene Summary',NULL,3259,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22381,'NCBI Gene PubMed Count',NULL,3259,NULL,NULL,NULL,35,NULL,NULL,NULL),(22382,'NCBI Gene Summary',NULL,3260,NULL,'This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(22383,'NCBI Gene PubMed Count',NULL,3260,NULL,NULL,NULL,47,NULL,NULL,NULL),(22384,'NCBI Gene PubMed Count',NULL,3261,NULL,NULL,NULL,5,NULL,NULL,NULL),(22385,'NCBI Gene Summary',NULL,3262,NULL,'This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(22386,'NCBI Gene PubMed Count',NULL,3262,NULL,NULL,NULL,74,NULL,NULL,NULL),(22387,'NCBI Gene PubMed Count',NULL,3263,NULL,NULL,NULL,5,NULL,NULL,NULL),(22388,'NCBI Gene PubMed Count',NULL,3264,NULL,NULL,NULL,6,NULL,NULL,NULL),(22389,'NCBI Gene Summary',NULL,3265,NULL,'This gene encodes a member of the family with sequence similarity 83 protein family. The encoded protein may be involved in regulating MAPK signaling in cancer cells. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(22390,'NCBI Gene PubMed Count',NULL,3265,NULL,NULL,NULL,5,NULL,NULL,NULL),(22391,'NCBI Gene PubMed Count',NULL,3266,NULL,NULL,NULL,7,NULL,NULL,NULL),(22392,'NCBI Gene Summary',NULL,3267,NULL,'The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(22393,'NCBI Gene PubMed Count',NULL,3267,NULL,NULL,NULL,18,NULL,NULL,NULL),(22394,'NCBI Gene PubMed Count',NULL,3268,NULL,NULL,NULL,2,NULL,NULL,NULL),(22395,'NCBI Gene Summary',NULL,3269,NULL,'The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted thiol protease inhibitor found at high levels in saliva, tears and seminal plasma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22396,'NCBI Gene PubMed Count',NULL,3269,NULL,NULL,NULL,39,NULL,NULL,NULL),(22397,'NCBI Gene Summary',NULL,3270,NULL,'Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103, an antibiotic peptide which is induced by bacteria and interferon gamma, and which displays antimicrobial activity against S. aureus, S. pyogenes, P. aeruginosa, E. coli, and C. albicans. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(22398,'NCBI Gene PubMed Count',NULL,3270,NULL,NULL,NULL,24,NULL,NULL,NULL),(22399,'NCBI Gene Summary',NULL,3271,NULL,'The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(22400,'NCBI Gene PubMed Count',NULL,3271,NULL,NULL,NULL,11,NULL,NULL,NULL),(22401,'NCBI Gene PubMed Count',NULL,3272,NULL,NULL,NULL,5,NULL,NULL,NULL),(22402,'NCBI Gene Summary',NULL,3273,NULL,'Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(22403,'NCBI Gene PubMed Count',NULL,3273,NULL,NULL,NULL,223,NULL,NULL,NULL),(22404,'NCBI Gene Summary',NULL,3274,NULL,'This gene encodes a globin protein found in vertebrate cells. The encoded protein is described as a hexacoordinate hemoglobin which binds ligand differently from the pentacoordinate hemoglobins involved in oxygen transport, and may be involved in protection during oxidative stress. This gene is located on chromosome 17 in the same region as a retinal gene which is mutated in progressive rod-cone degeneration, but in the opposite orientation. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(22405,'NCBI Gene PubMed Count',NULL,3274,NULL,NULL,NULL,65,NULL,NULL,NULL),(22406,'NCBI Gene Summary',NULL,3275,NULL,'The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(22407,'NCBI Gene PubMed Count',NULL,3275,NULL,NULL,NULL,6,NULL,NULL,NULL),(22408,'NCBI Gene Summary',NULL,3276,NULL,'This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(22409,'NCBI Gene PubMed Count',NULL,3276,NULL,NULL,NULL,7,NULL,NULL,NULL),(22410,'NCBI Gene Summary',NULL,3277,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 4p16. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22411,'NCBI Gene PubMed Count',NULL,3277,NULL,NULL,NULL,5,NULL,NULL,NULL),(22412,'NCBI Gene PubMed Count',NULL,3278,NULL,NULL,NULL,7,NULL,NULL,NULL),(22413,'NCBI Gene Summary',NULL,3279,NULL,'The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(22414,'NCBI Gene PubMed Count',NULL,3279,NULL,NULL,NULL,16,NULL,NULL,NULL),(22415,'NCBI Gene Summary',NULL,3280,NULL,'This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22416,'NCBI Gene PubMed Count',NULL,3280,NULL,NULL,NULL,13,NULL,NULL,NULL),(22417,'NCBI Gene Summary',NULL,3281,NULL,'Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(22418,'NCBI Gene PubMed Count',NULL,3281,NULL,NULL,NULL,7,NULL,NULL,NULL),(22419,'NCBI Gene PubMed Count',NULL,3282,NULL,NULL,NULL,53,NULL,NULL,NULL),(22420,'NCBI Gene PubMed Count',NULL,3283,NULL,NULL,NULL,3,NULL,NULL,NULL),(22421,'NCBI Gene Summary',NULL,3284,NULL,'The protein encoded by this gene is a ligand-dependent coactivator of nuclear receptors, including nuclear receptor subfamily 3 group C member 1 (NR3C1), glucocorticoid receptor (GR), and androgen receptor (AR). The encoded protein and DNA damage binding protein 2 (DDB2) may act as tumor promoters and tumor suppressors, respectively, by regulating the level of androgen receptor in prostate tissues. In addition, this protein can act with glucocorticoid receptor to promote human papillomavirus gene expression. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(22422,'NCBI Gene PubMed Count',NULL,3284,NULL,NULL,NULL,17,NULL,NULL,NULL),(22423,'NCBI Gene PubMed Count',NULL,3285,NULL,NULL,NULL,3,NULL,NULL,NULL),(22424,'NCBI Gene Summary',NULL,3286,NULL,'This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(22425,'NCBI Gene PubMed Count',NULL,3286,NULL,NULL,NULL,25,NULL,NULL,NULL),(22426,'NCBI Gene Summary',NULL,3287,NULL,'This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(22427,'NCBI Gene PubMed Count',NULL,3287,NULL,NULL,NULL,12,NULL,NULL,NULL),(22428,'NCBI Gene PubMed Count',NULL,3288,NULL,NULL,NULL,12,NULL,NULL,NULL),(22429,'NCBI Gene PubMed Count',NULL,3289,NULL,NULL,NULL,6,NULL,NULL,NULL),(22430,'NCBI Gene Summary',NULL,3290,NULL,'This antimicrobial gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(22431,'NCBI Gene PubMed Count',NULL,3290,NULL,NULL,NULL,60,NULL,NULL,NULL),(22432,'NCBI Gene Summary',NULL,3291,NULL,'This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22433,'NCBI Gene PubMed Count',NULL,3291,NULL,NULL,NULL,121,NULL,NULL,NULL),(22434,'NCBI Gene PubMed Count',NULL,3292,NULL,NULL,NULL,15,NULL,NULL,NULL),(22435,'NCBI Gene Summary',NULL,3293,NULL,'This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(22436,'NCBI Gene PubMed Count',NULL,3293,NULL,NULL,NULL,28,NULL,NULL,NULL),(22437,'NCBI Gene Summary',NULL,3294,NULL,'This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(22438,'NCBI Gene PubMed Count',NULL,3294,NULL,NULL,NULL,27,NULL,NULL,NULL),(22439,'NCBI Gene Summary',NULL,3295,NULL,'This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(22440,'NCBI Gene PubMed Count',NULL,3295,NULL,NULL,NULL,95,NULL,NULL,NULL),(22441,'NCBI Gene PubMed Count',NULL,3296,NULL,NULL,NULL,17,NULL,NULL,NULL),(22442,'NCBI Gene Summary',NULL,3297,NULL,'This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(22443,'NCBI Gene PubMed Count',NULL,3297,NULL,NULL,NULL,139,NULL,NULL,NULL),(22444,'NCBI Gene Summary',NULL,3298,NULL,'The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22445,'NCBI Gene PubMed Count',NULL,3298,NULL,NULL,NULL,31,NULL,NULL,NULL),(22446,'NCBI Gene Summary',NULL,3299,NULL,'This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22447,'NCBI Gene PubMed Count',NULL,3299,NULL,NULL,NULL,17,NULL,NULL,NULL),(22448,'NCBI Gene PubMed Count',NULL,3300,NULL,NULL,NULL,14,NULL,NULL,NULL),(22449,'NCBI Gene Summary',NULL,3301,NULL,'Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(22450,'NCBI Gene PubMed Count',NULL,3301,NULL,NULL,NULL,37,NULL,NULL,NULL),(22451,'NCBI Gene Summary',NULL,3302,NULL,'This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(22452,'NCBI Gene PubMed Count',NULL,3302,NULL,NULL,NULL,76,NULL,NULL,NULL),(22453,'NCBI Gene PubMed Count',NULL,3303,NULL,NULL,NULL,16,NULL,NULL,NULL),(22454,'NCBI Gene Summary',NULL,3304,NULL,'ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(22455,'NCBI Gene PubMed Count',NULL,3304,NULL,NULL,NULL,11,NULL,NULL,NULL),(22456,'NCBI Gene PubMed Count',NULL,3305,NULL,NULL,NULL,59,NULL,NULL,NULL),(22457,'NCBI Gene Summary',NULL,3306,NULL,'This gene encodes a member of the endothelin protein family of secretory vasoconstrictive peptides. The preproprotein is processed to a short mature form which functions as a ligand for the endothelin receptors that initiate intracellular signaling events. This gene product is involved in a wide range of biological processes, such as hypertension and ovulation. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(22458,'NCBI Gene PubMed Count',NULL,3306,NULL,NULL,NULL,67,NULL,NULL,NULL),(22459,'NCBI Gene Summary',NULL,3307,NULL,'This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22460,'NCBI Gene PubMed Count',NULL,3307,NULL,NULL,NULL,60,NULL,NULL,NULL),(22461,'NCBI Gene Summary',NULL,3308,NULL,'Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3\',5\'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(22462,'NCBI Gene PubMed Count',NULL,3308,NULL,NULL,NULL,36,NULL,NULL,NULL),(22463,'NCBI Gene PubMed Count',NULL,3309,NULL,NULL,NULL,9,NULL,NULL,NULL),(22464,'NCBI Gene PubMed Count',NULL,3310,NULL,NULL,NULL,7,NULL,NULL,NULL),(22465,'NCBI Gene PubMed Count',NULL,3311,NULL,NULL,NULL,25,NULL,NULL,NULL),(22466,'NCBI Gene Summary',NULL,3312,NULL,'This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(22467,'NCBI Gene PubMed Count',NULL,3312,NULL,NULL,NULL,55,NULL,NULL,NULL),(22468,'NCBI Gene Summary',NULL,3313,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This promotes neural repair after stroke. Additionally, this protein may act as a tumor suppressor and reduced expression of this gene is associated with oral cancer. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(22469,'NCBI Gene PubMed Count',NULL,3313,NULL,NULL,NULL,15,NULL,NULL,NULL),(22470,'NCBI Gene PubMed Count',NULL,3314,NULL,NULL,NULL,4,NULL,NULL,NULL),(22471,'NCBI Gene Summary',NULL,3315,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in the differentiation of tendon cells and spinal cord interneurons. A mutation in this gene may be associated with increased risk for Barrett\'s esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(22472,'NCBI Gene PubMed Count',NULL,3315,NULL,NULL,NULL,18,NULL,NULL,NULL),(22473,'NCBI Gene PubMed Count',NULL,3316,NULL,NULL,NULL,9,NULL,NULL,NULL),(22474,'NCBI Gene PubMed Count',NULL,3317,NULL,NULL,NULL,20,NULL,NULL,NULL),(22475,'NCBI Gene Summary',NULL,3318,NULL,'This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(22476,'NCBI Gene PubMed Count',NULL,3318,NULL,NULL,NULL,12,NULL,NULL,NULL),(22477,'NCBI Gene Summary',NULL,3319,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein negatively regulates skeletal muscle cell proliferation and differentiation. Mutations in this gene are associated with increased skeletal muscle mass in humans and other mammals. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(22478,'NCBI Gene PubMed Count',NULL,3319,NULL,NULL,NULL,166,NULL,NULL,NULL),(22479,'NCBI Gene Summary',NULL,3320,NULL,'This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(22480,'NCBI Gene PubMed Count',NULL,3320,NULL,NULL,NULL,124,NULL,NULL,NULL),(22481,'NCBI Gene Summary',NULL,3321,NULL,'Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(22482,'NCBI Gene PubMed Count',NULL,3321,NULL,NULL,NULL,75,NULL,NULL,NULL),(22483,'NCBI Gene Summary',NULL,3322,NULL,'The protein encoded by this gene binds to the \"plus\" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22484,'NCBI Gene PubMed Count',NULL,3322,NULL,NULL,NULL,220,NULL,NULL,NULL),(22485,'NCBI Gene Summary',NULL,3323,NULL,'This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(22486,'NCBI Gene PubMed Count',NULL,3323,NULL,NULL,NULL,44,NULL,NULL,NULL),(22487,'NCBI Gene PubMed Count',NULL,3324,NULL,NULL,NULL,21,NULL,NULL,NULL),(22488,'NCBI Gene PubMed Count',NULL,3325,NULL,NULL,NULL,14,NULL,NULL,NULL),(22489,'NCBI Gene PubMed Count',NULL,3326,NULL,NULL,NULL,8,NULL,NULL,NULL),(22490,'NCBI Gene PubMed Count',NULL,3327,NULL,NULL,NULL,10,NULL,NULL,NULL),(22491,'NCBI Gene Summary',NULL,3328,NULL,'The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(22492,'NCBI Gene PubMed Count',NULL,3328,NULL,NULL,NULL,7,NULL,NULL,NULL),(22493,'NCBI Gene Summary',NULL,3329,NULL,'This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(22494,'NCBI Gene PubMed Count',NULL,3329,NULL,NULL,NULL,87,NULL,NULL,NULL),(22495,'NCBI Gene Summary',NULL,3330,NULL,' EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function.  The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22496,'NCBI Gene PubMed Count',NULL,3330,NULL,NULL,NULL,39,NULL,NULL,NULL),(22497,'NCBI Gene Summary',NULL,3331,NULL,'This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(22498,'NCBI Gene PubMed Count',NULL,3331,NULL,NULL,NULL,53,NULL,NULL,NULL),(22499,'NCBI Gene Summary',NULL,3332,NULL,'This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. This receptor is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(22500,'NCBI Gene PubMed Count',NULL,3332,NULL,NULL,NULL,72,NULL,NULL,NULL),(22501,'NCBI Gene Summary',NULL,3333,NULL,'Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(22502,'NCBI Gene PubMed Count',NULL,3333,NULL,NULL,NULL,33,NULL,NULL,NULL),(22503,'NCBI Gene Summary',NULL,3334,NULL,'The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine kinase receptor and binds the ligand, artemin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22504,'NCBI Gene PubMed Count',NULL,3334,NULL,NULL,NULL,27,NULL,NULL,NULL),(22505,'NCBI Gene Summary',NULL,3335,NULL,'The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22506,'NCBI Gene PubMed Count',NULL,3335,NULL,NULL,NULL,11,NULL,NULL,NULL),(22507,'NCBI Gene Summary',NULL,3336,NULL,'GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22508,'NCBI Gene PubMed Count',NULL,3336,NULL,NULL,NULL,21,NULL,NULL,NULL),(22509,'NCBI Gene PubMed Count',NULL,3337,NULL,NULL,NULL,2,NULL,NULL,NULL),(22510,'NCBI Gene PubMed Count',NULL,3338,NULL,NULL,NULL,1,NULL,NULL,NULL),(22511,'NCBI Gene PubMed Count',NULL,3339,NULL,NULL,NULL,2,NULL,NULL,NULL),(22512,'NCBI Gene PubMed Count',NULL,3340,NULL,NULL,NULL,2,NULL,NULL,NULL),(22513,'NCBI Gene Summary',NULL,3341,NULL,'This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(22514,'NCBI Gene PubMed Count',NULL,3341,NULL,NULL,NULL,18,NULL,NULL,NULL),(22515,'NCBI Gene Summary',NULL,3342,NULL,'The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders. Multiple alternatively spliced variants have been identified. There are a number of related genes present on chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(22516,'NCBI Gene PubMed Count',NULL,3342,NULL,NULL,NULL,195,NULL,NULL,NULL),(22517,'NCBI Gene Summary',NULL,3343,NULL,'This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(22518,'NCBI Gene PubMed Count',NULL,3343,NULL,NULL,NULL,16,NULL,NULL,NULL),(22519,'NCBI Gene PubMed Count',NULL,3344,NULL,NULL,NULL,15,NULL,NULL,NULL),(22520,'NCBI Gene PubMed Count',NULL,3345,NULL,NULL,NULL,15,NULL,NULL,NULL),(22521,'NCBI Gene PubMed Count',NULL,3346,NULL,NULL,NULL,13,NULL,NULL,NULL),(22522,'NCBI Gene Summary',NULL,3347,NULL,'This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(22523,'NCBI Gene PubMed Count',NULL,3347,NULL,NULL,NULL,41,NULL,NULL,NULL),(22524,'NCBI Gene PubMed Count',NULL,3348,NULL,NULL,NULL,14,NULL,NULL,NULL),(22525,'NCBI Gene Summary',NULL,3349,NULL,'The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22526,'NCBI Gene PubMed Count',NULL,3349,NULL,NULL,NULL,32,NULL,NULL,NULL),(22527,'NCBI Gene Summary',NULL,3350,NULL,'This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(22528,'NCBI Gene PubMed Count',NULL,3350,NULL,NULL,NULL,34,NULL,NULL,NULL),(22529,'NCBI Gene Summary',NULL,3351,NULL,'The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(22530,'NCBI Gene PubMed Count',NULL,3351,NULL,NULL,NULL,15,NULL,NULL,NULL),(22531,'NCBI Gene PubMed Count',NULL,3352,NULL,NULL,NULL,9,NULL,NULL,NULL),(22532,'NCBI Gene Summary',NULL,3353,NULL,'This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(22533,'NCBI Gene PubMed Count',NULL,3353,NULL,NULL,NULL,17,NULL,NULL,NULL),(22534,'NCBI Gene PubMed Count',NULL,3354,NULL,NULL,NULL,0,NULL,NULL,NULL),(22535,'NCBI Gene PubMed Count',NULL,3355,NULL,NULL,NULL,11,NULL,NULL,NULL),(22536,'NCBI Gene PubMed Count',NULL,3356,NULL,NULL,NULL,5,NULL,NULL,NULL),(22537,'NCBI Gene PubMed Count',NULL,3357,NULL,NULL,NULL,3,NULL,NULL,NULL),(22538,'NCBI Gene PubMed Count',NULL,3358,NULL,NULL,NULL,1,NULL,NULL,NULL),(22539,'NCBI Gene PubMed Count',NULL,3359,NULL,NULL,NULL,18,NULL,NULL,NULL),(22540,'NCBI Gene Summary',NULL,3360,NULL,'The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(22541,'NCBI Gene PubMed Count',NULL,3360,NULL,NULL,NULL,40,NULL,NULL,NULL),(22542,'NCBI Gene Summary',NULL,3361,NULL,'This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(22543,'NCBI Gene PubMed Count',NULL,3361,NULL,NULL,NULL,68,NULL,NULL,NULL),(22544,'NCBI Gene PubMed Count',NULL,3362,NULL,NULL,NULL,7,NULL,NULL,NULL),(22545,'NCBI Gene PubMed Count',NULL,3363,NULL,NULL,NULL,3,NULL,NULL,NULL),(22546,'NCBI Gene PubMed Count',NULL,3364,NULL,NULL,NULL,10,NULL,NULL,NULL),(22547,'NCBI Gene PubMed Count',NULL,3365,NULL,NULL,NULL,11,NULL,NULL,NULL),(22548,'NCBI Gene Summary',NULL,3366,NULL,'This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(22549,'NCBI Gene PubMed Count',NULL,3366,NULL,NULL,NULL,26,NULL,NULL,NULL),(22550,'NCBI Gene Summary',NULL,3367,NULL,'The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(22551,'NCBI Gene PubMed Count',NULL,3367,NULL,NULL,NULL,28,NULL,NULL,NULL),(22552,'NCBI Gene Summary',NULL,3368,NULL,'The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(22553,'NCBI Gene PubMed Count',NULL,3368,NULL,NULL,NULL,5,NULL,NULL,NULL),(22554,'NCBI Gene PubMed Count',NULL,3369,NULL,NULL,NULL,12,NULL,NULL,NULL),(22555,'NCBI Gene Summary',NULL,3370,NULL,'This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(22556,'NCBI Gene PubMed Count',NULL,3370,NULL,NULL,NULL,10,NULL,NULL,NULL),(22557,'NCBI Gene PubMed Count',NULL,3371,NULL,NULL,NULL,3,NULL,NULL,NULL),(22558,'NCBI Gene Summary',NULL,3372,NULL,'This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22559,'NCBI Gene PubMed Count',NULL,3372,NULL,NULL,NULL,10,NULL,NULL,NULL),(22560,'NCBI Gene Summary',NULL,3373,NULL,'This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22561,'NCBI Gene PubMed Count',NULL,3373,NULL,NULL,NULL,11,NULL,NULL,NULL),(22562,'NCBI Gene Summary',NULL,3374,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22563,'NCBI Gene PubMed Count',NULL,3374,NULL,NULL,NULL,62,NULL,NULL,NULL),(22564,'NCBI Gene Summary',NULL,3375,NULL,'This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(22565,'NCBI Gene PubMed Count',NULL,3375,NULL,NULL,NULL,120,NULL,NULL,NULL),(22566,'NCBI Gene PubMed Count',NULL,3376,NULL,NULL,NULL,20,NULL,NULL,NULL),(22567,'NCBI Gene Summary',NULL,3377,NULL,'This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(22568,'NCBI Gene PubMed Count',NULL,3377,NULL,NULL,NULL,30,NULL,NULL,NULL),(22569,'NCBI Gene Summary',NULL,3378,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22570,'NCBI Gene PubMed Count',NULL,3378,NULL,NULL,NULL,44,NULL,NULL,NULL),(22571,'NCBI Gene Summary',NULL,3379,NULL,'The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22572,'NCBI Gene PubMed Count',NULL,3379,NULL,NULL,NULL,119,NULL,NULL,NULL),(22573,'NCBI Gene Summary',NULL,3380,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22574,'NCBI Gene PubMed Count',NULL,3380,NULL,NULL,NULL,82,NULL,NULL,NULL),(22575,'NCBI Gene PubMed Count',NULL,3381,NULL,NULL,NULL,6,NULL,NULL,NULL),(22576,'NCBI Gene Summary',NULL,3382,NULL,'The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen\'s metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(22577,'NCBI Gene PubMed Count',NULL,3382,NULL,NULL,NULL,152,NULL,NULL,NULL),(22578,'NCBI Gene Summary',NULL,3383,NULL,'The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(22579,'NCBI Gene PubMed Count',NULL,3383,NULL,NULL,NULL,213,NULL,NULL,NULL),(22580,'NCBI Gene Summary',NULL,3384,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(22581,'NCBI Gene PubMed Count',NULL,3384,NULL,NULL,NULL,149,NULL,NULL,NULL),(22582,'NCBI Gene Summary',NULL,3385,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(22583,'NCBI Gene PubMed Count',NULL,3385,NULL,NULL,NULL,599,NULL,NULL,NULL),(22584,'NCBI Gene Summary',NULL,3386,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(22585,'NCBI Gene PubMed Count',NULL,3386,NULL,NULL,NULL,29,NULL,NULL,NULL),(22586,'NCBI Gene Summary',NULL,3387,NULL,'Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B\'/PR61, and B\'\'/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B\' family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22587,'NCBI Gene PubMed Count',NULL,3387,NULL,NULL,NULL,132,NULL,NULL,NULL),(22588,'NCBI Gene Summary',NULL,3388,NULL,'This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(22589,'NCBI Gene PubMed Count',NULL,3388,NULL,NULL,NULL,42,NULL,NULL,NULL),(22590,'NCBI Gene Summary',NULL,3389,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(22591,'NCBI Gene PubMed Count',NULL,3389,NULL,NULL,NULL,43,NULL,NULL,NULL),(22592,'NCBI Gene Summary',NULL,3390,NULL,'The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(22593,'NCBI Gene PubMed Count',NULL,3390,NULL,NULL,NULL,51,NULL,NULL,NULL),(22594,'NCBI Gene Summary',NULL,3391,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22595,'NCBI Gene PubMed Count',NULL,3391,NULL,NULL,NULL,64,NULL,NULL,NULL),(22596,'NCBI Gene Summary',NULL,3392,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22597,'NCBI Gene PubMed Count',NULL,3392,NULL,NULL,NULL,44,NULL,NULL,NULL),(22598,'NCBI Gene Summary',NULL,3393,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(22599,'NCBI Gene PubMed Count',NULL,3393,NULL,NULL,NULL,28,NULL,NULL,NULL),(22600,'NCBI Gene Summary',NULL,3394,NULL,'This gene encodes a protein component of the radial spoke head in flagella and motile cilia. Eukaryotic flagella and motile cilia share a common 9 + 2 structure, in which nine peripheral microtubule doublets (MTDs) surround a central-pair of microtubules (CP), with radial spokes connecting the MTDs to the CP. The radial spoke is a multi-protein complex that works as a mechanochemical transducer between the CP and the MTDs. The radial spoke contributes to the regulation of the activity of dynein motors, and thus to flagellar motility. PMID: 22754630 provides a good review of radial spokes. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(22601,'NCBI Gene PubMed Count',NULL,3394,NULL,NULL,NULL,4,NULL,NULL,NULL),(22602,'NCBI Gene PubMed Count',NULL,3395,NULL,NULL,NULL,12,NULL,NULL,NULL),(22603,'NCBI Gene PubMed Count',NULL,3396,NULL,NULL,NULL,4,NULL,NULL,NULL),(22604,'NCBI Gene PubMed Count',NULL,3397,NULL,NULL,NULL,11,NULL,NULL,NULL),(22605,'NCBI Gene PubMed Count',NULL,3398,NULL,NULL,NULL,11,NULL,NULL,NULL),(22606,'NCBI Gene PubMed Count',NULL,3399,NULL,NULL,NULL,38,NULL,NULL,NULL),(22607,'NCBI Gene PubMed Count',NULL,3400,NULL,NULL,NULL,3,NULL,NULL,NULL),(22608,'NCBI Gene Summary',NULL,3401,NULL,'This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(22609,'NCBI Gene PubMed Count',NULL,3401,NULL,NULL,NULL,18,NULL,NULL,NULL),(22610,'NCBI Gene PubMed Count',NULL,3402,NULL,NULL,NULL,36,NULL,NULL,NULL),(22611,'NCBI Gene Summary',NULL,3403,NULL,'The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(22612,'NCBI Gene PubMed Count',NULL,3403,NULL,NULL,NULL,537,NULL,NULL,NULL),(22613,'NCBI Gene Summary',NULL,3404,NULL,'The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(22614,'NCBI Gene PubMed Count',NULL,3404,NULL,NULL,NULL,113,NULL,NULL,NULL),(22615,'NCBI Gene Summary',NULL,3405,NULL,'This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22616,'NCBI Gene PubMed Count',NULL,3405,NULL,NULL,NULL,446,NULL,NULL,NULL),(22617,'NCBI Gene Summary',NULL,3406,NULL,'The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(22618,'NCBI Gene PubMed Count',NULL,3406,NULL,NULL,NULL,40,NULL,NULL,NULL),(22619,'NCBI Gene Summary',NULL,3407,NULL,'This gene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22620,'NCBI Gene PubMed Count',NULL,3407,NULL,NULL,NULL,24,NULL,NULL,NULL),(22621,'NCBI Gene Summary',NULL,3408,NULL,'This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(22622,'NCBI Gene PubMed Count',NULL,3408,NULL,NULL,NULL,418,NULL,NULL,NULL),(22623,'NCBI Gene PubMed Count',NULL,3409,NULL,NULL,NULL,6,NULL,NULL,NULL),(22624,'NCBI Gene Summary',NULL,3410,NULL,'The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22625,'NCBI Gene PubMed Count',NULL,3410,NULL,NULL,NULL,126,NULL,NULL,NULL),(22626,'NCBI Gene Summary',NULL,3411,NULL,'Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(22627,'NCBI Gene PubMed Count',NULL,3411,NULL,NULL,NULL,46,NULL,NULL,NULL),(22628,'NCBI Gene Summary',NULL,3412,NULL,'This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(22629,'NCBI Gene PubMed Count',NULL,3412,NULL,NULL,NULL,22,NULL,NULL,NULL),(22630,'NCBI Gene Summary',NULL,3413,NULL,'The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(22631,'NCBI Gene PubMed Count',NULL,3413,NULL,NULL,NULL,14,NULL,NULL,NULL),(22632,'NCBI Gene Summary',NULL,3414,NULL,'The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22633,'NCBI Gene PubMed Count',NULL,3414,NULL,NULL,NULL,96,NULL,NULL,NULL),(22634,'NCBI Gene PubMed Count',NULL,3415,NULL,NULL,NULL,13,NULL,NULL,NULL),(22635,'NCBI Gene Summary',NULL,3416,NULL,'This gene is a member of the glycine-rich RNA-binding protein family and encodes a protein with one RNA recognition motif (RRM) domain. Expression of this gene is induced by cold shock and low oxygen tension. A pseudogene exists on chromosome 1. Multiple alternatively spliced transcript variants that are predicted to encode different isoforms have been characterized although some of these variants fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22636,'NCBI Gene PubMed Count',NULL,3416,NULL,NULL,NULL,41,NULL,NULL,NULL),(22637,'NCBI Gene PubMed Count',NULL,3417,NULL,NULL,NULL,41,NULL,NULL,NULL),(22638,'NCBI Gene PubMed Count',NULL,3418,NULL,NULL,NULL,5,NULL,NULL,NULL),(22639,'NCBI Gene Summary',NULL,3419,NULL,'This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(22640,'NCBI Gene PubMed Count',NULL,3419,NULL,NULL,NULL,21,NULL,NULL,NULL),(22641,'NCBI Gene PubMed Count',NULL,3420,NULL,NULL,NULL,23,NULL,NULL,NULL),(22642,'NCBI Gene PubMed Count',NULL,3421,NULL,NULL,NULL,15,NULL,NULL,NULL),(22643,'NCBI Gene Summary',NULL,3422,NULL,'This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(22644,'NCBI Gene PubMed Count',NULL,3422,NULL,NULL,NULL,73,NULL,NULL,NULL),(22645,'NCBI Gene Summary',NULL,3423,NULL,'This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(22646,'NCBI Gene PubMed Count',NULL,3423,NULL,NULL,NULL,23,NULL,NULL,NULL),(22647,'NCBI Gene PubMed Count',NULL,3424,NULL,NULL,NULL,10,NULL,NULL,NULL),(22648,'NCBI Gene PubMed Count',NULL,3425,NULL,NULL,NULL,20,NULL,NULL,NULL),(22649,'NCBI Gene PubMed Count',NULL,3426,NULL,NULL,NULL,25,NULL,NULL,NULL),(22650,'NCBI Gene Summary',NULL,3427,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22651,'NCBI Gene PubMed Count',NULL,3427,NULL,NULL,NULL,19,NULL,NULL,NULL),(22652,'NCBI Gene PubMed Count',NULL,3428,NULL,NULL,NULL,6,NULL,NULL,NULL),(22653,'NCBI Gene PubMed Count',NULL,3429,NULL,NULL,NULL,2,NULL,NULL,NULL),(22654,'NCBI Gene PubMed Count',NULL,3430,NULL,NULL,NULL,11,NULL,NULL,NULL),(22655,'NCBI Gene PubMed Count',NULL,3431,NULL,NULL,NULL,26,NULL,NULL,NULL),(22656,'NCBI Gene Summary',NULL,3432,NULL,'The protein encoded by this gene is a member of the Ras-related protein subfamily of the Ras GTPase superfamily. Members of this family are small GTPases that act as molecular switches to regulate cellular proliferation, differentiation, and apoptosis. This protein has been reported to activate in vitro transcriptional activity of the serum response element. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(22657,'NCBI Gene PubMed Count',NULL,3432,NULL,NULL,NULL,16,NULL,NULL,NULL),(22658,'NCBI Gene Summary',NULL,3433,NULL,'This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(22659,'NCBI Gene PubMed Count',NULL,3433,NULL,NULL,NULL,74,NULL,NULL,NULL),(22660,'NCBI Gene Summary',NULL,3434,NULL,'The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22661,'NCBI Gene PubMed Count',NULL,3434,NULL,NULL,NULL,22,NULL,NULL,NULL),(22662,'NCBI Gene Summary',NULL,3435,NULL,'This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22663,'NCBI Gene PubMed Count',NULL,3435,NULL,NULL,NULL,66,NULL,NULL,NULL),(22664,'NCBI Gene Summary',NULL,3436,NULL,'This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(22665,'NCBI Gene PubMed Count',NULL,3436,NULL,NULL,NULL,14,NULL,NULL,NULL),(22666,'NCBI Gene Summary',NULL,3437,NULL,'This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(22667,'NCBI Gene PubMed Count',NULL,3437,NULL,NULL,NULL,799,NULL,NULL,NULL),(22668,'NCBI Gene Summary',NULL,3438,NULL,'This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(22669,'NCBI Gene PubMed Count',NULL,3438,NULL,NULL,NULL,67,NULL,NULL,NULL),(22670,'NCBI Gene Summary',NULL,3439,NULL,'This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(22671,'NCBI Gene PubMed Count',NULL,3439,NULL,NULL,NULL,26,NULL,NULL,NULL),(22672,'NCBI Gene Summary',NULL,3440,NULL,'This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded preproprotein is proteolytically processed to generate two alternative peptide products that differ in length by three amino acids. These peptides, secreted by endocrine cells in the gut, exhibit different binding affinities for each of the neuropeptide Y receptors. Binding of the encoded peptides to these receptors mediates regulation of pancreatic secretion, gut mobility and energy homeostasis. Rare variations in this gene could increase susceptibility to obesity and elevated serum levels of the encoded peptides may be associated with anorexia nervosa. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(22673,'NCBI Gene PubMed Count',NULL,3440,NULL,NULL,NULL,120,NULL,NULL,NULL),(22674,'NCBI Gene Summary',NULL,3441,NULL,'The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(22675,'NCBI Gene PubMed Count',NULL,3441,NULL,NULL,NULL,39,NULL,NULL,NULL),(22676,'NCBI Gene Summary',NULL,3442,NULL,'The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(22677,'NCBI Gene PubMed Count',NULL,3442,NULL,NULL,NULL,79,NULL,NULL,NULL),(22678,'NCBI Gene Summary',NULL,3443,NULL,'RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(22679,'NCBI Gene PubMed Count',NULL,3443,NULL,NULL,NULL,54,NULL,NULL,NULL),(22680,'NCBI Gene PubMed Count',NULL,3444,NULL,NULL,NULL,191,NULL,NULL,NULL),(22681,'NCBI Gene PubMed Count',NULL,3445,NULL,NULL,NULL,21,NULL,NULL,NULL),(22682,'NCBI Gene PubMed Count',NULL,3446,NULL,NULL,NULL,63,NULL,NULL,NULL),(22683,'NCBI Gene PubMed Count',NULL,3447,NULL,NULL,NULL,9,NULL,NULL,NULL),(22684,'NCBI Gene PubMed Count',NULL,3448,NULL,NULL,NULL,3,NULL,NULL,NULL),(22685,'NCBI Gene Summary',NULL,3449,NULL,'Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied by OMIM, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(22686,'NCBI Gene PubMed Count',NULL,3449,NULL,NULL,NULL,46,NULL,NULL,NULL),(22687,'NCBI Gene Summary',NULL,3450,NULL,'This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(22688,'NCBI Gene PubMed Count',NULL,3450,NULL,NULL,NULL,13,NULL,NULL,NULL),(22689,'NCBI Gene PubMed Count',NULL,3451,NULL,NULL,NULL,12,NULL,NULL,NULL),(22690,'NCBI Gene PubMed Count',NULL,3452,NULL,NULL,NULL,10,NULL,NULL,NULL),(22691,'NCBI Gene PubMed Count',NULL,3453,NULL,NULL,NULL,4,NULL,NULL,NULL),(22692,'NCBI Gene PubMed Count',NULL,3454,NULL,NULL,NULL,19,NULL,NULL,NULL),(22693,'NCBI Gene PubMed Count',NULL,3455,NULL,NULL,NULL,8,NULL,NULL,NULL),(22694,'NCBI Gene Summary',NULL,3456,NULL,'This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(22695,'NCBI Gene PubMed Count',NULL,3456,NULL,NULL,NULL,25,NULL,NULL,NULL),(22696,'NCBI Gene Summary',NULL,3457,NULL,'This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing factor during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(22697,'NCBI Gene PubMed Count',NULL,3457,NULL,NULL,NULL,7,NULL,NULL,NULL),(22698,'NCBI Gene Summary',NULL,3458,NULL,'This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22699,'NCBI Gene PubMed Count',NULL,3458,NULL,NULL,NULL,7,NULL,NULL,NULL),(22700,'NCBI Gene PubMed Count',NULL,3459,NULL,NULL,NULL,7,NULL,NULL,NULL),(22701,'NCBI Gene PubMed Count',NULL,3460,NULL,NULL,NULL,13,NULL,NULL,NULL),(22702,'NCBI Gene PubMed Count',NULL,3461,NULL,NULL,NULL,2,NULL,NULL,NULL),(22703,'NCBI Gene PubMed Count',NULL,3462,NULL,NULL,NULL,12,NULL,NULL,NULL),(22704,'NCBI Gene Summary',NULL,3463,NULL,'This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(22705,'NCBI Gene PubMed Count',NULL,3463,NULL,NULL,NULL,53,NULL,NULL,NULL),(22706,'NCBI Gene PubMed Count',NULL,3464,NULL,NULL,NULL,14,NULL,NULL,NULL),(22707,'NCBI Gene PubMed Count',NULL,3465,NULL,NULL,NULL,4,NULL,NULL,NULL),(22708,'NCBI Gene Summary',NULL,3466,NULL,'This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(22709,'NCBI Gene PubMed Count',NULL,3466,NULL,NULL,NULL,25,NULL,NULL,NULL),(22710,'NCBI Gene Summary',NULL,3467,NULL,'RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated in a gene cluster that lies in a hot spot for recombination on chromosome 2q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22711,'NCBI Gene PubMed Count',NULL,3467,NULL,NULL,NULL,113,NULL,NULL,NULL),(22712,'NCBI Gene Summary',NULL,3468,NULL,'This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22713,'NCBI Gene PubMed Count',NULL,3468,NULL,NULL,NULL,18,NULL,NULL,NULL),(22714,'NCBI Gene Summary',NULL,3469,NULL,'The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(22715,'NCBI Gene PubMed Count',NULL,3469,NULL,NULL,NULL,19,NULL,NULL,NULL),(22716,'NCBI Gene Summary',NULL,3470,NULL,'This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3\' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(22717,'NCBI Gene PubMed Count',NULL,3470,NULL,NULL,NULL,27,NULL,NULL,NULL),(22718,'NCBI Gene Summary',NULL,3471,NULL,'The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(22719,'NCBI Gene PubMed Count',NULL,3471,NULL,NULL,NULL,136,NULL,NULL,NULL),(22720,'NCBI Gene Summary',NULL,3472,NULL,'This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV based on the primary structures of the encoded proteins. This gene encodes a protein secreted by the exocrine pancreas that is highly similar to the REG1A protein. The related REG1A protein is associated with islet cell regeneration and diabetogenesis, and may be involved in pancreatic lithogenesis. Reg family members REG1A, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22721,'NCBI Gene PubMed Count',NULL,3472,NULL,NULL,NULL,38,NULL,NULL,NULL),(22722,'NCBI Gene Summary',NULL,3473,NULL,'This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(22723,'NCBI Gene PubMed Count',NULL,3473,NULL,NULL,NULL,32,NULL,NULL,NULL),(22724,'NCBI Gene Summary',NULL,3474,NULL,'This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(22725,'NCBI Gene PubMed Count',NULL,3474,NULL,NULL,NULL,17,NULL,NULL,NULL),(22726,'NCBI Gene PubMed Count',NULL,3475,NULL,NULL,NULL,10,NULL,NULL,NULL),(22727,'NCBI Gene Summary',NULL,3476,NULL,'This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22728,'NCBI Gene PubMed Count',NULL,3476,NULL,NULL,NULL,194,NULL,NULL,NULL),(22729,'NCBI Gene PubMed Count',NULL,3477,NULL,NULL,NULL,159,NULL,NULL,NULL),(22730,'NCBI Gene PubMed Count',NULL,3478,NULL,NULL,NULL,2,NULL,NULL,NULL),(22731,'NCBI Gene PubMed Count',NULL,3479,NULL,NULL,NULL,8,NULL,NULL,NULL),(22732,'NCBI Gene PubMed Count',NULL,3480,NULL,NULL,NULL,14,NULL,NULL,NULL),(22733,'NCBI Gene Summary',NULL,3481,NULL,'This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22734,'NCBI Gene PubMed Count',NULL,3481,NULL,NULL,NULL,47,NULL,NULL,NULL),(22735,'NCBI Gene PubMed Count',NULL,3482,NULL,NULL,NULL,9,NULL,NULL,NULL),(22736,'NCBI Gene PubMed Count',NULL,3483,NULL,NULL,NULL,20,NULL,NULL,NULL),(22737,'NCBI Gene PubMed Count',NULL,3484,NULL,NULL,NULL,37,NULL,NULL,NULL),(22738,'NCBI Gene Summary',NULL,3485,NULL,'This gene belong to the RAET1 family, which consists of major histocompatibility complex (MHC) class I-related genes located in a cluster on chromosome 6q24.2-q25.3. This and RAET1G protein differ from other RAET1 proteins in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. This protein functions as a ligand for NKG2D receptor, which is expressed on the surface of several types of immune cells, and is involved in innate and adaptive immune responses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(22739,'NCBI Gene PubMed Count',NULL,3485,NULL,NULL,NULL,22,NULL,NULL,NULL),(22740,'NCBI Gene PubMed Count',NULL,3486,NULL,NULL,NULL,3,NULL,NULL,NULL),(22741,'NCBI Gene Summary',NULL,3487,NULL,'The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(22742,'NCBI Gene PubMed Count',NULL,3487,NULL,NULL,NULL,12,NULL,NULL,NULL),(22743,'NCBI Gene Summary',NULL,3488,NULL,'This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer\'s disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. Epigenetic inactivation of this gene is closely correlated with resistance to dexamethasone in multiple myeloma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(22744,'NCBI Gene PubMed Count',NULL,3488,NULL,NULL,NULL,33,NULL,NULL,NULL),(22745,'NCBI Gene Summary',NULL,3489,NULL,'This gene encodes a member of the Ras-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(22746,'NCBI Gene PubMed Count',NULL,3489,NULL,NULL,NULL,29,NULL,NULL,NULL),(22747,'NCBI Gene Summary',NULL,3490,NULL,'The protein encoded by this gene is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. The RBMS proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. This protein was isolated by phenotypic complementation of cdc2 and cdc13 mutants of yeast and is thought to suppress cdc2 and cdc13 mutants through the induction of translation of cdc2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22748,'NCBI Gene PubMed Count',NULL,3490,NULL,NULL,NULL,12,NULL,NULL,NULL),(22749,'NCBI Gene Summary',NULL,3491,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(22750,'NCBI Gene PubMed Count',NULL,3491,NULL,NULL,NULL,90,NULL,NULL,NULL),(22751,'NCBI Gene PubMed Count',NULL,3492,NULL,NULL,NULL,11,NULL,NULL,NULL),(22752,'NCBI Gene Summary',NULL,3493,NULL,'The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(22753,'NCBI Gene PubMed Count',NULL,3493,NULL,NULL,NULL,104,NULL,NULL,NULL),(22754,'NCBI Gene Summary',NULL,3494,NULL,'This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen receptor, which binds to the estrogen-responsive element found in the 5\'-flanking region of this gene. The encoded protein is a tumor-associated antigen that is expressed at high frequency in a variety of cancers. Alternate splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 10. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(22755,'NCBI Gene PubMed Count',NULL,3494,NULL,NULL,NULL,79,NULL,NULL,NULL),(22756,'NCBI Gene Summary',NULL,3495,NULL,'The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22757,'NCBI Gene PubMed Count',NULL,3495,NULL,NULL,NULL,47,NULL,NULL,NULL),(22758,'NCBI Gene Summary',NULL,3496,NULL,'This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(22759,'NCBI Gene PubMed Count',NULL,3496,NULL,NULL,NULL,14,NULL,NULL,NULL),(22760,'NCBI Gene Summary',NULL,3497,NULL,'This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22761,'NCBI Gene PubMed Count',NULL,3497,NULL,NULL,NULL,14,NULL,NULL,NULL),(22762,'NCBI Gene PubMed Count',NULL,3498,NULL,NULL,NULL,11,NULL,NULL,NULL),(22763,'NCBI Gene Summary',NULL,3499,NULL,'The protein encoded by this gene is an NADPH-dependent retinal reductase and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(22764,'NCBI Gene PubMed Count',NULL,3499,NULL,NULL,NULL,24,NULL,NULL,NULL),(22765,'NCBI Gene Summary',NULL,3500,NULL,'The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(22766,'NCBI Gene PubMed Count',NULL,3500,NULL,NULL,NULL,86,NULL,NULL,NULL),(22767,'NCBI Gene Summary',NULL,3501,NULL,'This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22768,'NCBI Gene PubMed Count',NULL,3501,NULL,NULL,NULL,62,NULL,NULL,NULL),(22769,'NCBI Gene PubMed Count',NULL,3502,NULL,NULL,NULL,22,NULL,NULL,NULL),(22770,'NCBI Gene Summary',NULL,3503,NULL,'This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(22771,'NCBI Gene PubMed Count',NULL,3503,NULL,NULL,NULL,15,NULL,NULL,NULL),(22772,'NCBI Gene Summary',NULL,3504,NULL,'This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. Retinoic acid receptors (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands, RARs activate transcription by binding as heterodimers to the retinoic acid response elements (RARE) found in the promoter regions of the target genes. In their unbound form, RARs repress transcription of their target genes. RARs are involved in various biological processes, including limb bud development, skeletal growth, and matrix homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(22773,'NCBI Gene PubMed Count',NULL,3504,NULL,NULL,NULL,78,NULL,NULL,NULL),(22774,'NCBI Gene Summary',NULL,3505,NULL,'This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22775,'NCBI Gene PubMed Count',NULL,3505,NULL,NULL,NULL,12,NULL,NULL,NULL),(22776,'NCBI Gene Summary',NULL,3506,NULL,'This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22777,'NCBI Gene PubMed Count',NULL,3506,NULL,NULL,NULL,51,NULL,NULL,NULL),(22778,'NCBI Gene Summary',NULL,3507,NULL,'The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22779,'NCBI Gene PubMed Count',NULL,3507,NULL,NULL,NULL,8,NULL,NULL,NULL),(22780,'NCBI Gene Summary',NULL,3508,NULL,'This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(22781,'NCBI Gene PubMed Count',NULL,3508,NULL,NULL,NULL,46,NULL,NULL,NULL),(22782,'NCBI Gene PubMed Count',NULL,3509,NULL,NULL,NULL,42,NULL,NULL,NULL),(22783,'NCBI Gene Summary',NULL,3510,NULL,'This gene encodes a member of the U2AF65 family of proteins. The encoded protein is found in the nucleus, where it co-localizes with core spliceosomal proteins. It has been shown to play a role in both steroid hormone receptor-mediated transcription and alternative splicing, and it is also a transcriptional coregulator of the viral oncoprotein v-Rel. Multiple transcript variants have been observed for this gene. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(22784,'NCBI Gene PubMed Count',NULL,3510,NULL,NULL,NULL,36,NULL,NULL,NULL),(22785,'NCBI Gene Summary',NULL,3511,NULL,'Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(22786,'NCBI Gene PubMed Count',NULL,3511,NULL,NULL,NULL,28,NULL,NULL,NULL),(22787,'NCBI Gene Summary',NULL,3512,NULL,'RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(22788,'NCBI Gene PubMed Count',NULL,3512,NULL,NULL,NULL,74,NULL,NULL,NULL),(22789,'NCBI Gene PubMed Count',NULL,3513,NULL,NULL,NULL,18,NULL,NULL,NULL),(22790,'NCBI Gene Summary',NULL,3514,NULL,'This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(22791,'NCBI Gene PubMed Count',NULL,3514,NULL,NULL,NULL,22,NULL,NULL,NULL),(22792,'NCBI Gene Summary',NULL,3515,NULL,'The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(22793,'NCBI Gene PubMed Count',NULL,3515,NULL,NULL,NULL,9,NULL,NULL,NULL),(22794,'NCBI Gene PubMed Count',NULL,3516,NULL,NULL,NULL,16,NULL,NULL,NULL),(22795,'NCBI Gene PubMed Count',NULL,3517,NULL,NULL,NULL,12,NULL,NULL,NULL),(22796,'NCBI Gene Summary',NULL,3518,NULL,'This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(22797,'NCBI Gene PubMed Count',NULL,3518,NULL,NULL,NULL,9,NULL,NULL,NULL),(22798,'NCBI Gene Summary',NULL,3519,NULL,'The protein encoded by this gene is a member of the RNA recognition motif (RRM)-containing protein family and is involved in the development and dedifferentiation of digestive smooth muscle cells. The encoded protein functions as a homodimer and indirectly inhibits the bone morphogenetic protein pathway. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(22799,'NCBI Gene PubMed Count',NULL,3519,NULL,NULL,NULL,7,NULL,NULL,NULL),(22800,'NCBI Gene PubMed Count',NULL,3520,NULL,NULL,NULL,17,NULL,NULL,NULL),(22801,'NCBI Gene Summary',NULL,3521,NULL,'This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22802,'NCBI Gene PubMed Count',NULL,3521,NULL,NULL,NULL,17,NULL,NULL,NULL),(22803,'NCBI Gene Summary',NULL,3522,NULL,'This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing factor during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(22804,'NCBI Gene PubMed Count',NULL,3522,NULL,NULL,NULL,8,NULL,NULL,NULL),(22805,'NCBI Gene Summary',NULL,3523,NULL,'This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(22806,'NCBI Gene PubMed Count',NULL,3523,NULL,NULL,NULL,15,NULL,NULL,NULL),(22807,'NCBI Gene Summary',NULL,3524,NULL,'The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22808,'NCBI Gene PubMed Count',NULL,3524,NULL,NULL,NULL,962,NULL,NULL,NULL),(22809,'NCBI Gene PubMed Count',NULL,3525,NULL,NULL,NULL,10,NULL,NULL,NULL),(22810,'NCBI Gene PubMed Count',NULL,3526,NULL,NULL,NULL,11,NULL,NULL,NULL),(22811,'NCBI Gene Summary',NULL,3527,NULL,'The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(22812,'NCBI Gene PubMed Count',NULL,3527,NULL,NULL,NULL,64,NULL,NULL,NULL),(22813,'NCBI Gene Summary',NULL,3530,NULL,'The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure, and also familial hypertrophic cardiomyopathy. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(22814,'NCBI Gene PubMed Count',NULL,3530,NULL,NULL,NULL,137,NULL,NULL,NULL),(22815,'NCBI Gene Summary',NULL,3531,NULL,'This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(22816,'NCBI Gene PubMed Count',NULL,3531,NULL,NULL,NULL,48,NULL,NULL,NULL),(22817,'NCBI Gene PubMed Count',NULL,3532,NULL,NULL,NULL,8,NULL,NULL,NULL),(22818,'NCBI Gene Summary',NULL,3533,NULL,'This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5\'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(22819,'NCBI Gene PubMed Count',NULL,3533,NULL,NULL,NULL,18,NULL,NULL,NULL),(22820,'NCBI Gene Summary',NULL,3534,NULL,'This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(22821,'NCBI Gene PubMed Count',NULL,3534,NULL,NULL,NULL,8,NULL,NULL,NULL),(22822,'NCBI Gene PubMed Count',NULL,3535,NULL,NULL,NULL,4,NULL,NULL,NULL),(22823,'NCBI Gene PubMed Count',NULL,3536,NULL,NULL,NULL,2,NULL,NULL,NULL),(22824,'NCBI Gene PubMed Count',NULL,3537,NULL,NULL,NULL,4,NULL,NULL,NULL),(22825,'NCBI Gene Summary',NULL,3538,NULL,'The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional enzyme with two distinct active sites. It is involved in redox regulation of the cell; it can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. It may play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22826,'NCBI Gene PubMed Count',NULL,3538,NULL,NULL,NULL,113,NULL,NULL,NULL),(22827,'NCBI Gene Summary',NULL,3539,NULL,'The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs).  It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22828,'NCBI Gene PubMed Count',NULL,3539,NULL,NULL,NULL,58,NULL,NULL,NULL),(22829,'NCBI Gene PubMed Count',NULL,3540,NULL,NULL,NULL,3,NULL,NULL,NULL),(22830,'NCBI Gene PubMed Count',NULL,3541,NULL,NULL,NULL,7,NULL,NULL,NULL),(22831,'NCBI Gene PubMed Count',NULL,3542,NULL,NULL,NULL,11,NULL,NULL,NULL),(22832,'NCBI Gene PubMed Count',NULL,3543,NULL,NULL,NULL,8,NULL,NULL,NULL),(22833,'NCBI Gene Summary',NULL,3544,NULL,'The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22834,'NCBI Gene PubMed Count',NULL,3544,NULL,NULL,NULL,22,NULL,NULL,NULL),(22835,'NCBI Gene Summary',NULL,3545,NULL,'This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22836,'NCBI Gene PubMed Count',NULL,3545,NULL,NULL,NULL,22,NULL,NULL,NULL),(22837,'NCBI Gene Summary',NULL,3546,NULL,'PRLHR is a 7-transmembrane domain receptor for prolactin-releasing hormone (PRLH; MIM 602663) that is highly expressed in anterior pituitary (Ozawa et al., 2002 [PubMed 11923475]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(22838,'NCBI Gene PubMed Count',NULL,3546,NULL,NULL,NULL,24,NULL,NULL,NULL),(22839,'NCBI Gene Summary',NULL,3547,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(22840,'NCBI Gene PubMed Count',NULL,3547,NULL,NULL,NULL,88,NULL,NULL,NULL),(22841,'NCBI Gene Summary',NULL,3548,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(22842,'NCBI Gene PubMed Count',NULL,3548,NULL,NULL,NULL,75,NULL,NULL,NULL),(22843,'NCBI Gene Summary',NULL,3549,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(22844,'NCBI Gene PubMed Count',NULL,3549,NULL,NULL,NULL,59,NULL,NULL,NULL),(22845,'NCBI Gene Summary',NULL,3550,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22846,'NCBI Gene PubMed Count',NULL,3550,NULL,NULL,NULL,103,NULL,NULL,NULL),(22847,'NCBI Gene Summary',NULL,3551,NULL,'This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(22848,'NCBI Gene PubMed Count',NULL,3551,NULL,NULL,NULL,25,NULL,NULL,NULL),(22849,'NCBI Gene Summary',NULL,3552,NULL,'The protein encoded by this gene is a glutathione-dependent prostaglandin E synthase. The expression of this gene has been shown to be induced by proinflammatory cytokine interleukin 1 beta (IL1B). Its expression can also be induced by tumor suppressor protein TP53, and may be involved in TP53 induced apoptosis. Knockout studies in mice suggest that this gene may contribute to the pathogenesis of collagen-induced arthritis and mediate acute pain during inflammatory responses. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22850,'NCBI Gene PubMed Count',NULL,3552,NULL,NULL,NULL,142,NULL,NULL,NULL),(22851,'NCBI Gene Summary',NULL,3553,NULL,'This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(22852,'NCBI Gene PubMed Count',NULL,3553,NULL,NULL,NULL,17,NULL,NULL,NULL),(22853,'NCBI Gene Summary',NULL,3554,NULL,'This gene encodes an enzyme involved in the metabolism of prostaglandins. The encoded protein catalyzes the NADPH-dependent conversion of 15-keto-prostaglandin E2 to 15-keto-13,14-dihydro-prostaglandin E2. This protein may also be involved in regulating activation of the peroxisome proliferator-activated receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(22854,'NCBI Gene PubMed Count',NULL,3554,NULL,NULL,NULL,14,NULL,NULL,NULL),(22855,'NCBI Gene Summary',NULL,3555,NULL,'This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(22856,'NCBI Gene PubMed Count',NULL,3555,NULL,NULL,NULL,290,NULL,NULL,NULL),(22857,'NCBI Gene Summary',NULL,3556,NULL,'This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22858,'NCBI Gene PubMed Count',NULL,3556,NULL,NULL,NULL,21,NULL,NULL,NULL),(22859,'NCBI Gene PubMed Count',NULL,3557,NULL,NULL,NULL,9,NULL,NULL,NULL),(22860,'NCBI Gene PubMed Count',NULL,3558,NULL,NULL,NULL,4,NULL,NULL,NULL),(22861,'NCBI Gene Summary',NULL,3559,NULL,'This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5\' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22862,'NCBI Gene PubMed Count',NULL,3559,NULL,NULL,NULL,39,NULL,NULL,NULL),(22863,'NCBI Gene Summary',NULL,3560,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22864,'NCBI Gene PubMed Count',NULL,3560,NULL,NULL,NULL,33,NULL,NULL,NULL),(22865,'NCBI Gene Summary',NULL,3561,NULL,'Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]',NULL,NULL,NULL,NULL,NULL),(22866,'NCBI Gene PubMed Count',NULL,3561,NULL,NULL,NULL,20,NULL,NULL,NULL),(22867,'NCBI Gene Summary',NULL,3562,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22868,'NCBI Gene PubMed Count',NULL,3562,NULL,NULL,NULL,29,NULL,NULL,NULL),(22869,'NCBI Gene PubMed Count',NULL,3563,NULL,NULL,NULL,14,NULL,NULL,NULL),(22870,'NCBI Gene Summary',NULL,3564,NULL,'This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22871,'NCBI Gene PubMed Count',NULL,3564,NULL,NULL,NULL,34,NULL,NULL,NULL),(22872,'NCBI Gene Summary',NULL,3565,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(22873,'NCBI Gene PubMed Count',NULL,3565,NULL,NULL,NULL,58,NULL,NULL,NULL),(22874,'NCBI Gene PubMed Count',NULL,3566,NULL,NULL,NULL,7,NULL,NULL,NULL),(22875,'NCBI Gene Summary',NULL,3567,NULL,'Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22876,'NCBI Gene PubMed Count',NULL,3567,NULL,NULL,NULL,37,NULL,NULL,NULL),(22877,'NCBI Gene Summary',NULL,3569,NULL,'OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(22878,'NCBI Gene PubMed Count',NULL,3569,NULL,NULL,NULL,10,NULL,NULL,NULL),(22879,'NCBI Gene PubMed Count',NULL,3570,NULL,NULL,NULL,25,NULL,NULL,NULL),(22880,'NCBI Gene Summary',NULL,3571,NULL,'This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read-through transcription exists between this gene and the neighboring upstream gene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream gene product. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(22881,'NCBI Gene PubMed Count',NULL,3571,NULL,NULL,NULL,231,NULL,NULL,NULL),(22882,'NCBI Gene PubMed Count',NULL,3572,NULL,NULL,NULL,6,NULL,NULL,NULL),(22883,'NCBI Gene Summary',NULL,3573,NULL,'This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22884,'NCBI Gene PubMed Count',NULL,3573,NULL,NULL,NULL,22,NULL,NULL,NULL),(22885,'NCBI Gene PubMed Count',NULL,3574,NULL,NULL,NULL,9,NULL,NULL,NULL),(22886,'NCBI Gene Summary',NULL,3575,NULL,'Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast formation and bone resorption (Reddy et al., 1998 [PubMed 10092216]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(22887,'NCBI Gene PubMed Count',NULL,3575,NULL,NULL,NULL,26,NULL,NULL,NULL),(22888,'NCBI Gene Summary',NULL,3576,NULL,'This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22889,'NCBI Gene PubMed Count',NULL,3576,NULL,NULL,NULL,132,NULL,NULL,NULL),(22890,'NCBI Gene Summary',NULL,3577,NULL,'This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(22891,'NCBI Gene PubMed Count',NULL,3577,NULL,NULL,NULL,256,NULL,NULL,NULL),(22892,'NCBI Gene Summary',NULL,3578,NULL,'Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. The protein encoded by this gene belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(22893,'NCBI Gene PubMed Count',NULL,3578,NULL,NULL,NULL,16,NULL,NULL,NULL),(22894,'NCBI Gene Summary',NULL,3579,NULL,'The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related gene (HCRTR2) encodes a G-protein coupled receptor that binds orexin A and orexin B. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(22895,'NCBI Gene PubMed Count',NULL,3579,NULL,NULL,NULL,67,NULL,NULL,NULL),(22896,'NCBI Gene Summary',NULL,3580,NULL,'This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(22897,'NCBI Gene PubMed Count',NULL,3580,NULL,NULL,NULL,18,NULL,NULL,NULL),(22898,'NCBI Gene Summary',NULL,3581,NULL,'This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. The encoded products are members of the RFamide family of neuropeptides, characterized by their common protein C-terminus consisting of an arginine (R) and an amidated phenylalanine (F). These products include the neuropeptides 26RFa and the N-terminally extended form, 43RFa. Both of these neuropeptides bind to the pyroglutamylated RFamide peptide receptor (QRFPR) and may regulate blood pressure, reproduction and food intake in rodents. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(22899,'NCBI Gene PubMed Count',NULL,3581,NULL,NULL,NULL,20,NULL,NULL,NULL),(22900,'NCBI Gene Summary',NULL,3582,NULL,'This gene encodes a type I membrane glycoprotein containing two extracellular immunoglobulin domains, a transmembrane and a cytoplasmic domain. This gene is expressed by various cell types, including B cells, a subset of T cells, thymocytes, endothelial cells, and neurons. The encoded protein plays an important role in immunosuppression and regulation of anti-tumor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(22901,'NCBI Gene PubMed Count',NULL,3582,NULL,NULL,NULL,113,NULL,NULL,NULL),(22902,'NCBI Gene PubMed Count',NULL,3583,NULL,NULL,NULL,8,NULL,NULL,NULL),(22903,'NCBI Gene PubMed Count',NULL,3584,NULL,NULL,NULL,18,NULL,NULL,NULL),(22904,'NCBI Gene Summary',NULL,3585,NULL,'This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response by cleaving the polyubiquitin chain from an essential type I interferon adaptor protein. Cleavage results in disassociation of the adaptor protein from a downstream signaling complex and disruption of the type I interferon signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(22905,'NCBI Gene PubMed Count',NULL,3585,NULL,NULL,NULL,16,NULL,NULL,NULL),(22906,'NCBI Gene PubMed Count',NULL,3586,NULL,NULL,NULL,4,NULL,NULL,NULL),(22907,'NCBI Gene Summary',NULL,3587,NULL,'The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(22908,'NCBI Gene PubMed Count',NULL,3587,NULL,NULL,NULL,14,NULL,NULL,NULL),(22909,'NCBI Gene Summary',NULL,3588,NULL,'The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2019]',NULL,NULL,NULL,NULL,NULL),(22910,'NCBI Gene PubMed Count',NULL,3588,NULL,NULL,NULL,20,NULL,NULL,NULL),(22911,'NCBI Gene Summary',NULL,3589,NULL,'This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(22912,'NCBI Gene PubMed Count',NULL,3589,NULL,NULL,NULL,187,NULL,NULL,NULL),(22913,'NCBI Gene Summary',NULL,3590,NULL,'This gene encodes a member of the cytosolic phospholipase A2 protein family. Phospholipase A2 enzymes hydrolyze the sn-2 bond of phospholipids, releasing lysophospholipids and fatty acids. This enzyme may be associated with mitochondria and early endosomes. Most tissues also express read-through transcripts from the upstream gene into this gene, some of which may encode fusion proteins combining the N-terminus of the upstream gene including its JmjC domain with the almost complete coding region of this gene, including the C2 and cytoplasmic phospholipase A2 domains. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22914,'NCBI Gene PubMed Count',NULL,3590,NULL,NULL,NULL,17,NULL,NULL,NULL),(22915,'NCBI Gene Summary',NULL,3591,NULL,'This gene encodes a secreted member of the phospholipase A2 family, and is found in a cluster of related family members on chromosome 1. Phospholipase A2 family members hydrolyze the sn-2 fatty acid ester bond of glycerophospholipids to produce lysophospholipids and free fatty acid. This gene may be involved in inflammation and immune response, and in weight loss associated with chronic obstructive pulmonary disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(22916,'NCBI Gene PubMed Count',NULL,3591,NULL,NULL,NULL,26,NULL,NULL,NULL),(22917,'NCBI Gene Summary',NULL,3592,NULL,'This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migration. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(22918,'NCBI Gene PubMed Count',NULL,3592,NULL,NULL,NULL,14,NULL,NULL,NULL),(22919,'NCBI Gene Summary',NULL,3593,NULL,'This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(22920,'NCBI Gene PubMed Count',NULL,3593,NULL,NULL,NULL,130,NULL,NULL,NULL),(22921,'NCBI Gene Summary',NULL,3594,NULL,'This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson\'s disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson\'s disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22922,'NCBI Gene PubMed Count',NULL,3594,NULL,NULL,NULL,33,NULL,NULL,NULL),(22923,'NCBI Gene Summary',NULL,3595,NULL,'This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease\'s phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22924,'NCBI Gene PubMed Count',NULL,3595,NULL,NULL,NULL,30,NULL,NULL,NULL),(22925,'NCBI Gene Summary',NULL,3596,NULL,'This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22926,'NCBI Gene PubMed Count',NULL,3596,NULL,NULL,NULL,13,NULL,NULL,NULL),(22927,'NCBI Gene Summary',NULL,3597,NULL,'Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is suggested that PABPC4 might be necessary for regulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antigen, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the regulation of protein translation in platelets and megakaryocytes or may participate in the binding or stabilization of polyadenylates in platelet dense granules. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(22928,'NCBI Gene PubMed Count',NULL,3597,NULL,NULL,NULL,31,NULL,NULL,NULL),(22929,'NCBI Gene Summary',NULL,3598,NULL,'This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. Unlike the other gene family members, this gene does not encode an antigenic peptide. Nothing is presently known about the function of this protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22930,'NCBI Gene PubMed Count',NULL,3598,NULL,NULL,NULL,9,NULL,NULL,NULL),(22931,'NCBI Gene Summary',NULL,3599,NULL,'Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22932,'NCBI Gene PubMed Count',NULL,3599,NULL,NULL,NULL,25,NULL,NULL,NULL),(22933,'NCBI Gene Summary',NULL,3600,NULL,'This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(22934,'NCBI Gene PubMed Count',NULL,3600,NULL,NULL,NULL,1312,NULL,NULL,NULL),(22935,'NCBI Gene Summary',NULL,3601,NULL,'The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22936,'NCBI Gene PubMed Count',NULL,3601,NULL,NULL,NULL,51,NULL,NULL,NULL),(22937,'NCBI Gene PubMed Count',NULL,3602,NULL,NULL,NULL,8,NULL,NULL,NULL),(22938,'NCBI Gene PubMed Count',NULL,3603,NULL,NULL,NULL,4,NULL,NULL,NULL),(22939,'NCBI Gene PubMed Count',NULL,3604,NULL,NULL,NULL,1,NULL,NULL,NULL),(22940,'NCBI Gene PubMed Count',NULL,3605,NULL,NULL,NULL,10,NULL,NULL,NULL),(22941,'NCBI Gene PubMed Count',NULL,3606,NULL,NULL,NULL,6,NULL,NULL,NULL),(22942,'NCBI Gene Summary',NULL,3607,NULL,'The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3\' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(22943,'NCBI Gene PubMed Count',NULL,3607,NULL,NULL,NULL,28,NULL,NULL,NULL),(22944,'NCBI Gene Summary',NULL,3608,NULL,'The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3\'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(22945,'NCBI Gene PubMed Count',NULL,3608,NULL,NULL,NULL,25,NULL,NULL,NULL),(22946,'NCBI Gene Summary',NULL,3609,NULL,'This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22947,'NCBI Gene PubMed Count',NULL,3609,NULL,NULL,NULL,69,NULL,NULL,NULL),(22948,'NCBI Gene PubMed Count',NULL,3610,NULL,NULL,NULL,11,NULL,NULL,NULL),(22949,'NCBI Gene Summary',NULL,3611,NULL,'This gene encodes a member of the protease-activated receptor subfamily, part of the G-protein coupled receptor 1 family of proteins. The encoded receptor is proteolytically processed to reveal an extracellular N-terminal tethered ligand that binds to and activates the receptor. This receptor plays a role in blood coagulation, inflammation and response to pain. Hypomethylation at this gene may be associated with lung cancer in human patients. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(22950,'NCBI Gene PubMed Count',NULL,3611,NULL,NULL,NULL,90,NULL,NULL,NULL),(22951,'NCBI Gene Summary',NULL,3612,NULL,'This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22952,'NCBI Gene PubMed Count',NULL,3612,NULL,NULL,NULL,56,NULL,NULL,NULL),(22953,'NCBI Gene PubMed Count',NULL,3613,NULL,NULL,NULL,5,NULL,NULL,NULL),(22954,'NCBI Gene Summary',NULL,3614,NULL,'This gene encodes a tumor suppressor protein that selectively induces apoptosis in cancer cells through intracellular and extracellular mechanisms. The intracellular mechanism involves the inhibition of pro-survival pathways and the activation of Fas-mediated apoptosis, while the extracellular mechanism involves the binding of a secreted form of this protein to glucose regulated protein 78 (GRP78) on the cell surface, which leads to activation of the extrinsic apoptotic pathway. This gene is located on the unstable human chromosomal 12q21 region and is often deleted or mutated different tumors. The encoded protein also plays an important role in the progression of age-related diseases. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(22955,'NCBI Gene PubMed Count',NULL,3614,NULL,NULL,NULL,115,NULL,NULL,NULL),(22956,'NCBI Gene Summary',NULL,3615,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22957,'NCBI Gene PubMed Count',NULL,3615,NULL,NULL,NULL,7,NULL,NULL,NULL),(22958,'NCBI Gene Summary',NULL,3616,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22959,'NCBI Gene PubMed Count',NULL,3616,NULL,NULL,NULL,12,NULL,NULL,NULL),(22960,'NCBI Gene Summary',NULL,3617,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22961,'NCBI Gene PubMed Count',NULL,3617,NULL,NULL,NULL,14,NULL,NULL,NULL),(22962,'NCBI Gene Summary',NULL,3618,NULL,'The protein encoded by this gene binds to CLP1 to form pre-mRNA cleavage factor IIm. The encoded protein is necessary for efficient Pol II transcription termination and may be involved in degradation of the 3\' product of polyA site cleavage. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(22963,'NCBI Gene PubMed Count',NULL,3618,NULL,NULL,NULL,16,NULL,NULL,NULL),(22964,'NCBI Gene Summary',NULL,3619,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(22965,'NCBI Gene PubMed Count',NULL,3619,NULL,NULL,NULL,50,NULL,NULL,NULL),(22966,'NCBI Gene PubMed Count',NULL,3620,NULL,NULL,NULL,12,NULL,NULL,NULL),(22967,'NCBI Gene Summary',NULL,3621,NULL,'This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(22968,'NCBI Gene PubMed Count',NULL,3621,NULL,NULL,NULL,67,NULL,NULL,NULL),(22969,'NCBI Gene Summary',NULL,3622,NULL,'The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(22970,'NCBI Gene PubMed Count',NULL,3622,NULL,NULL,NULL,14,NULL,NULL,NULL),(22971,'NCBI Gene Summary',NULL,3623,NULL,'This gene encodes a protein that belongs to a family of RNA-binding proteins. The encoded protein functions as a translational repressor during embryonic development and cell differentiation. This protein is also thought to be a positive regulator of cell proliferation in adipose-derived stem cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(22972,'NCBI Gene PubMed Count',NULL,3623,NULL,NULL,NULL,41,NULL,NULL,NULL),(22973,'NCBI Gene PubMed Count',NULL,3624,NULL,NULL,NULL,8,NULL,NULL,NULL),(22974,'NCBI Gene Summary',NULL,3625,NULL,'This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3\' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22975,'NCBI Gene PubMed Count',NULL,3625,NULL,NULL,NULL,49,NULL,NULL,NULL),(22976,'NCBI Gene Summary',NULL,3626,NULL,'The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(22977,'NCBI Gene PubMed Count',NULL,3626,NULL,NULL,NULL,13,NULL,NULL,NULL),(22978,'NCBI Gene Summary',NULL,3627,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22979,'NCBI Gene PubMed Count',NULL,3627,NULL,NULL,NULL,24,NULL,NULL,NULL),(22980,'NCBI Gene Summary',NULL,3628,NULL,'This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22981,'NCBI Gene PubMed Count',NULL,3628,NULL,NULL,NULL,33,NULL,NULL,NULL),(22982,'NCBI Gene Summary',NULL,3629,NULL,'This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(22983,'NCBI Gene PubMed Count',NULL,3629,NULL,NULL,NULL,18,NULL,NULL,NULL),(22984,'NCBI Gene Summary',NULL,3630,NULL,'The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(22985,'NCBI Gene PubMed Count',NULL,3630,NULL,NULL,NULL,5,NULL,NULL,NULL),(22986,'NCBI Gene Summary',NULL,3631,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(22987,'NCBI Gene PubMed Count',NULL,3631,NULL,NULL,NULL,31,NULL,NULL,NULL),(22988,'NCBI Gene PubMed Count',NULL,3632,NULL,NULL,NULL,4,NULL,NULL,NULL),(22989,'NCBI Gene Summary',NULL,3633,NULL,'The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(22990,'NCBI Gene PubMed Count',NULL,3633,NULL,NULL,NULL,22,NULL,NULL,NULL),(22991,'NCBI Gene PubMed Count',NULL,3634,NULL,NULL,NULL,3,NULL,NULL,NULL),(22992,'NCBI Gene PubMed Count',NULL,3635,NULL,NULL,NULL,26,NULL,NULL,NULL),(22993,'NCBI Gene Summary',NULL,3636,NULL,'This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(22994,'NCBI Gene PubMed Count',NULL,3636,NULL,NULL,NULL,79,NULL,NULL,NULL),(22995,'NCBI Gene Summary',NULL,3637,NULL,'This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(22996,'NCBI Gene PubMed Count',NULL,3637,NULL,NULL,NULL,84,NULL,NULL,NULL),(22997,'NCBI Gene Summary',NULL,3638,NULL,'This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This protein is a non-ATPase subunit that may be involved in protein-protein interactions. Aberrant expression of this gene may paly a role in tumorigenesis. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(22998,'NCBI Gene PubMed Count',NULL,3638,NULL,NULL,NULL,113,NULL,NULL,NULL),(22999,'NCBI Gene Summary',NULL,3639,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(23000,'NCBI Gene PubMed Count',NULL,3639,NULL,NULL,NULL,47,NULL,NULL,NULL),(23001,'NCBI Gene Summary',NULL,3640,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23002,'NCBI Gene PubMed Count',NULL,3640,NULL,NULL,NULL,53,NULL,NULL,NULL),(23003,'NCBI Gene Summary',NULL,3641,NULL,'The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(23004,'NCBI Gene PubMed Count',NULL,3641,NULL,NULL,NULL,27,NULL,NULL,NULL),(23005,'NCBI Gene PubMed Count',NULL,3642,NULL,NULL,NULL,11,NULL,NULL,NULL),(23006,'NCBI Gene Summary',NULL,3643,NULL,'This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(23007,'NCBI Gene PubMed Count',NULL,3643,NULL,NULL,NULL,50,NULL,NULL,NULL),(23008,'NCBI Gene Summary',NULL,3644,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(23009,'NCBI Gene PubMed Count',NULL,3644,NULL,NULL,NULL,37,NULL,NULL,NULL),(23010,'NCBI Gene Summary',NULL,3645,NULL,'The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(23011,'NCBI Gene PubMed Count',NULL,3645,NULL,NULL,NULL,9,NULL,NULL,NULL),(23012,'NCBI Gene Summary',NULL,3646,NULL,'The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(23013,'NCBI Gene PubMed Count',NULL,3646,NULL,NULL,NULL,197,NULL,NULL,NULL),(23014,'NCBI Gene PubMed Count',NULL,3647,NULL,NULL,NULL,5,NULL,NULL,NULL),(23015,'NCBI Gene Summary',NULL,3648,NULL,'This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(23016,'NCBI Gene PubMed Count',NULL,3648,NULL,NULL,NULL,11,NULL,NULL,NULL),(23017,'NCBI Gene Summary',NULL,3649,NULL,'The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(23018,'NCBI Gene PubMed Count',NULL,3649,NULL,NULL,NULL,13,NULL,NULL,NULL),(23019,'NCBI Gene PubMed Count',NULL,3650,NULL,NULL,NULL,7,NULL,NULL,NULL),(23020,'NCBI Gene Summary',NULL,3651,NULL,'The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(23021,'NCBI Gene PubMed Count',NULL,3651,NULL,NULL,NULL,97,NULL,NULL,NULL),(23022,'NCBI Gene PubMed Count',NULL,3652,NULL,NULL,NULL,5,NULL,NULL,NULL),(23023,'NCBI Gene Summary',NULL,3653,NULL,'The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23024,'NCBI Gene PubMed Count',NULL,3653,NULL,NULL,NULL,35,NULL,NULL,NULL),(23025,'NCBI Gene Summary',NULL,3654,NULL,'This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(23026,'NCBI Gene PubMed Count',NULL,3654,NULL,NULL,NULL,28,NULL,NULL,NULL),(23027,'NCBI Gene PubMed Count',NULL,3655,NULL,NULL,NULL,37,NULL,NULL,NULL),(23028,'NCBI Gene PubMed Count',NULL,3656,NULL,NULL,NULL,3,NULL,NULL,NULL),(23029,'NCBI Gene PubMed Count',NULL,3657,NULL,NULL,NULL,3,NULL,NULL,NULL),(23030,'NCBI Gene PubMed Count',NULL,3658,NULL,NULL,NULL,13,NULL,NULL,NULL),(23031,'NCBI Gene PubMed Count',NULL,3659,NULL,NULL,NULL,30,NULL,NULL,NULL),(23032,'NCBI Gene Summary',NULL,3660,NULL,'This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(23033,'NCBI Gene PubMed Count',NULL,3660,NULL,NULL,NULL,45,NULL,NULL,NULL),(23034,'NCBI Gene PubMed Count',NULL,3661,NULL,NULL,NULL,9,NULL,NULL,NULL),(23035,'NCBI Gene PubMed Count',NULL,3662,NULL,NULL,NULL,16,NULL,NULL,NULL),(23036,'NCBI Gene Summary',NULL,3664,NULL,'POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(23037,'NCBI Gene PubMed Count',NULL,3664,NULL,NULL,NULL,17,NULL,NULL,NULL),(23038,'NCBI Gene Summary',NULL,3665,NULL,'The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23039,'NCBI Gene PubMed Count',NULL,3665,NULL,NULL,NULL,29,NULL,NULL,NULL),(23040,'NCBI Gene Summary',NULL,3666,NULL,'The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23041,'NCBI Gene PubMed Count',NULL,3666,NULL,NULL,NULL,57,NULL,NULL,NULL),(23042,'NCBI Gene Summary',NULL,3667,NULL,'This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(23043,'NCBI Gene PubMed Count',NULL,3667,NULL,NULL,NULL,387,NULL,NULL,NULL),(23044,'NCBI Gene Summary',NULL,3668,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23045,'NCBI Gene PubMed Count',NULL,3668,NULL,NULL,NULL,46,NULL,NULL,NULL),(23046,'NCBI Gene Summary',NULL,3669,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5\'-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23047,'NCBI Gene PubMed Count',NULL,3669,NULL,NULL,NULL,29,NULL,NULL,NULL),(23048,'NCBI Gene Summary',NULL,3670,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23049,'NCBI Gene PubMed Count',NULL,3670,NULL,NULL,NULL,60,NULL,NULL,NULL),(23050,'NCBI Gene Summary',NULL,3671,NULL,'This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23051,'NCBI Gene PubMed Count',NULL,3671,NULL,NULL,NULL,56,NULL,NULL,NULL),(23052,'NCBI Gene PubMed Count',NULL,3672,NULL,NULL,NULL,85,NULL,NULL,NULL),(23053,'NCBI Gene Summary',NULL,3673,NULL,'This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5\' to 3\' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(23054,'NCBI Gene PubMed Count',NULL,3673,NULL,NULL,NULL,20,NULL,NULL,NULL),(23055,'NCBI Gene Summary',NULL,3674,NULL,'This gene encodes a protein that is induced by the steroid hormone progesterone and plays a role in the maintenance of pregnancy. The encoded protein regulates multiple facets of the immune system to promote normal pregnancy including cytokine synthesis, natural killer (NK) cell activity, and arachidonic acid metabolism. Low serum levels of this protein have been associated with spontaneous pre-term labor in humans. This protein may promote the proliferation, migration and invasion of glioma. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(23056,'NCBI Gene PubMed Count',NULL,3674,NULL,NULL,NULL,44,NULL,NULL,NULL),(23057,'NCBI Gene Summary',NULL,3675,NULL,'This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(23058,'NCBI Gene PubMed Count',NULL,3675,NULL,NULL,NULL,46,NULL,NULL,NULL),(23059,'NCBI Gene PubMed Count',NULL,3676,NULL,NULL,NULL,6,NULL,NULL,NULL),(23060,'NCBI Gene PubMed Count',NULL,3677,NULL,NULL,NULL,16,NULL,NULL,NULL),(23061,'NCBI Gene PubMed Count',NULL,3678,NULL,NULL,NULL,17,NULL,NULL,NULL),(23062,'NCBI Gene Summary',NULL,3679,NULL,'Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(23063,'NCBI Gene PubMed Count',NULL,3679,NULL,NULL,NULL,66,NULL,NULL,NULL),(23064,'NCBI Gene PubMed Count',NULL,3680,NULL,NULL,NULL,3,NULL,NULL,NULL),(23065,'NCBI Gene PubMed Count',NULL,3681,NULL,NULL,NULL,9,NULL,NULL,NULL),(23066,'NCBI Gene Summary',NULL,3682,NULL,'Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(23067,'NCBI Gene PubMed Count',NULL,3682,NULL,NULL,NULL,20,NULL,NULL,NULL),(23068,'NCBI Gene PubMed Count',NULL,3683,NULL,NULL,NULL,4,NULL,NULL,NULL),(23069,'NCBI Gene PubMed Count',NULL,3684,NULL,NULL,NULL,6,NULL,NULL,NULL),(23070,'NCBI Gene Summary',NULL,3685,NULL,'The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23071,'NCBI Gene PubMed Count',NULL,3685,NULL,NULL,NULL,299,NULL,NULL,NULL),(23072,'NCBI Gene PubMed Count',NULL,3686,NULL,NULL,NULL,5,NULL,NULL,NULL),(23073,'NCBI Gene Summary',NULL,3687,NULL,'This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23074,'NCBI Gene PubMed Count',NULL,3687,NULL,NULL,NULL,6,NULL,NULL,NULL),(23075,'NCBI Gene PubMed Count',NULL,3688,NULL,NULL,NULL,6,NULL,NULL,NULL),(23076,'NCBI Gene PubMed Count',NULL,3689,NULL,NULL,NULL,3,NULL,NULL,NULL),(23077,'NCBI Gene PubMed Count',NULL,3690,NULL,NULL,NULL,6,NULL,NULL,NULL),(23078,'NCBI Gene Summary',NULL,3691,NULL,'This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(23079,'NCBI Gene PubMed Count',NULL,3691,NULL,NULL,NULL,21,NULL,NULL,NULL),(23080,'NCBI Gene PubMed Count',NULL,3692,NULL,NULL,NULL,3,NULL,NULL,NULL),(23081,'NCBI Gene PubMed Count',NULL,3693,NULL,NULL,NULL,15,NULL,NULL,NULL),(23082,'NCBI Gene Summary',NULL,3696,NULL,'This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(23083,'NCBI Gene PubMed Count',NULL,3696,NULL,NULL,NULL,32,NULL,NULL,NULL),(23084,'NCBI Gene Summary',NULL,3697,NULL,'This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(23085,'NCBI Gene PubMed Count',NULL,3697,NULL,NULL,NULL,1098,NULL,NULL,NULL),(23086,'NCBI Gene PubMed Count',NULL,3698,NULL,NULL,NULL,1,NULL,NULL,NULL),(23087,'NCBI Gene Summary',NULL,3699,NULL,'This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(23088,'NCBI Gene PubMed Count',NULL,3699,NULL,NULL,NULL,19,NULL,NULL,NULL),(23089,'NCBI Gene Summary',NULL,3700,NULL,'This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23090,'NCBI Gene PubMed Count',NULL,3700,NULL,NULL,NULL,161,NULL,NULL,NULL),(23091,'NCBI Gene PubMed Count',NULL,3701,NULL,NULL,NULL,6,NULL,NULL,NULL),(23092,'NCBI Gene PubMed Count',NULL,3702,NULL,NULL,NULL,9,NULL,NULL,NULL),(23093,'NCBI Gene PubMed Count',NULL,3703,NULL,NULL,NULL,10,NULL,NULL,NULL),(23094,'NCBI Gene Summary',NULL,3704,NULL,'Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(23095,'NCBI Gene PubMed Count',NULL,3704,NULL,NULL,NULL,56,NULL,NULL,NULL),(23096,'NCBI Gene Summary',NULL,3705,NULL,'Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as \"hemidesmosomal protein 1\" or \"plectin 1, intermediate filament binding 500kDa\". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5\' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin\'s highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5\' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(23097,'NCBI Gene PubMed Count',NULL,3705,NULL,NULL,NULL,117,NULL,NULL,NULL),(23098,'NCBI Gene Summary',NULL,3706,NULL,'The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(23099,'NCBI Gene PubMed Count',NULL,3706,NULL,NULL,NULL,42,NULL,NULL,NULL),(23100,'NCBI Gene Summary',NULL,3707,NULL,'This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(23101,'NCBI Gene PubMed Count',NULL,3707,NULL,NULL,NULL,145,NULL,NULL,NULL),(23102,'NCBI Gene Summary',NULL,3708,NULL,'The protein encoded by this gene catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. The activity of the encoded enzyme is enhanced by phosphatidylinositol 4,5-bisphosphate and ADP-ribosylation factor-1. This protein localizes to the peripheral membrane and may be involved in cytoskeletal organization, cell cycle control, transcriptional regulation, and/or regulated secretion. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(23103,'NCBI Gene PubMed Count',NULL,3708,NULL,NULL,NULL,141,NULL,NULL,NULL),(23104,'NCBI Gene Summary',NULL,3709,NULL,'The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(23105,'NCBI Gene PubMed Count',NULL,3709,NULL,NULL,NULL,36,NULL,NULL,NULL),(23106,'NCBI Gene PubMed Count',NULL,3710,NULL,NULL,NULL,8,NULL,NULL,NULL),(23107,'NCBI Gene Summary',NULL,3711,NULL,'The proteins in the lipid phosphate phosphatase (LPP) family, including PRG2, are integral membrane proteins that modulate bioactive lipid phosphates including phosphatidate, lysophosphatidate, and sphingosine-1-phosphate in the context of cell migration, neurite retraction, and mitogenesis (Brauer et al., 2003 [PubMed 12730698]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23108,'NCBI Gene PubMed Count',NULL,3711,NULL,NULL,NULL,5,NULL,NULL,NULL),(23109,'NCBI Gene Summary',NULL,3712,NULL,'This gene encodes a member of the phospholipid scramblase family. Phospholipid scramblases are membrane proteins that mediate calcium-dependent, non-specific movement of plasma membrane phospholipids and phosphatidylserine exposure. The encoded protein contains a low affinity calcium binding motif and may play a role in blood coagulation and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(23110,'NCBI Gene PubMed Count',NULL,3712,NULL,NULL,NULL,6,NULL,NULL,NULL),(23111,'NCBI Gene Summary',NULL,3713,NULL,'This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23112,'NCBI Gene PubMed Count',NULL,3713,NULL,NULL,NULL,36,NULL,NULL,NULL),(23113,'NCBI Gene PubMed Count',NULL,3714,NULL,NULL,NULL,8,NULL,NULL,NULL),(23114,'NCBI Gene PubMed Count',NULL,3715,NULL,NULL,NULL,16,NULL,NULL,NULL),(23115,'NCBI Gene PubMed Count',NULL,3717,NULL,NULL,NULL,16,NULL,NULL,NULL),(23116,'NCBI Gene PubMed Count',NULL,3718,NULL,NULL,NULL,6,NULL,NULL,NULL),(23117,'NCBI Gene Summary',NULL,3719,NULL,'This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(23118,'NCBI Gene PubMed Count',NULL,3719,NULL,NULL,NULL,82,NULL,NULL,NULL),(23119,'NCBI Gene Summary',NULL,3720,NULL,'This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(23120,'NCBI Gene PubMed Count',NULL,3720,NULL,NULL,NULL,359,NULL,NULL,NULL),(23121,'NCBI Gene PubMed Count',NULL,3721,NULL,NULL,NULL,6,NULL,NULL,NULL),(23122,'NCBI Gene Summary',NULL,3722,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23123,'NCBI Gene PubMed Count',NULL,3722,NULL,NULL,NULL,26,NULL,NULL,NULL),(23124,'NCBI Gene Summary',NULL,3723,NULL,'This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature peptides before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the \"Medium\" allele. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(23125,'NCBI Gene PubMed Count',NULL,3723,NULL,NULL,NULL,18,NULL,NULL,NULL),(23126,'NCBI Gene Summary',NULL,3724,NULL,'This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. Multiple distinct alleles of this locus including the parotid isoelectric-focusing variant slow (PIF-s), the parotid acidic protein (Pa), and the double band slow (Db-s) isoforms have been characterized. The reference genome encodes the Db-s allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Co-transcription of this gene with adjacent genes has been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(23127,'NCBI Gene PubMed Count',NULL,3724,NULL,NULL,NULL,19,NULL,NULL,NULL),(23128,'NCBI Gene Summary',NULL,3725,NULL,'Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23129,'NCBI Gene PubMed Count',NULL,3725,NULL,NULL,NULL,34,NULL,NULL,NULL),(23130,'NCBI Gene Summary',NULL,3726,NULL,'This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(23131,'NCBI Gene PubMed Count',NULL,3726,NULL,NULL,NULL,21,NULL,NULL,NULL),(23132,'NCBI Gene PubMed Count',NULL,3727,NULL,NULL,NULL,5,NULL,NULL,NULL),(23133,'NCBI Gene PubMed Count',NULL,3728,NULL,NULL,NULL,3,NULL,NULL,NULL),(23134,'NCBI Gene PubMed Count',NULL,3729,NULL,NULL,NULL,24,NULL,NULL,NULL),(23135,'NCBI Gene PubMed Count',NULL,3730,NULL,NULL,NULL,17,NULL,NULL,NULL),(23136,'NCBI Gene Summary',NULL,3731,NULL,'The protein encoded by this gene tethers heterochromatin to the nuclear laminar scaffold by binding heterochromatin protein 1 (HP1) and the nuclear lamina. The tether is broken during mitosis and reforms quickly after mitosis, with the encoded protein first binding HP1 and then attaching to the nuclear lamina. This protein also has been shown to promote MyoD activity and skeletal myogenesis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(23137,'NCBI Gene PubMed Count',NULL,3731,NULL,NULL,NULL,9,NULL,NULL,NULL),(23138,'NCBI Gene PubMed Count',NULL,3732,NULL,NULL,NULL,8,NULL,NULL,NULL),(23139,'NCBI Gene PubMed Count',NULL,3733,NULL,NULL,NULL,7,NULL,NULL,NULL),(23140,'NCBI Gene Summary',NULL,3734,NULL,'The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23141,'NCBI Gene PubMed Count',NULL,3734,NULL,NULL,NULL,40,NULL,NULL,NULL),(23142,'NCBI Gene Summary',NULL,3735,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23143,'NCBI Gene PubMed Count',NULL,3735,NULL,NULL,NULL,61,NULL,NULL,NULL),(23144,'NCBI Gene Summary',NULL,3736,NULL,'This gene encodes a member of a cluster of testis-specific serine proteases. The orthologous mouse gene is expressed during meiosis in pachytene spermatocytes and is required for germ cell survival. This human locus is represented as a pseudogene because it contains an early stop codon that disrupts the trypsin domain, compared to the mouse ortholog. [provided by RefSeq, Jan 2019]',NULL,NULL,NULL,NULL,NULL),(23145,'NCBI Gene PubMed Count',NULL,3736,NULL,NULL,NULL,6,NULL,NULL,NULL),(23146,'NCBI Gene PubMed Count',NULL,3737,NULL,NULL,NULL,1,NULL,NULL,NULL),(23147,'NCBI Gene PubMed Count',NULL,3738,NULL,NULL,NULL,2,NULL,NULL,NULL),(23148,'NCBI Gene PubMed Count',NULL,3739,NULL,NULL,NULL,4,NULL,NULL,NULL),(23149,'NCBI Gene PubMed Count',NULL,3740,NULL,NULL,NULL,2,NULL,NULL,NULL),(23150,'NCBI Gene PubMed Count',NULL,3741,NULL,NULL,NULL,1,NULL,NULL,NULL),(23151,'NCBI Gene Summary',NULL,3742,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23152,'NCBI Gene PubMed Count',NULL,3742,NULL,NULL,NULL,67,NULL,NULL,NULL),(23153,'NCBI Gene PubMed Count',NULL,3743,NULL,NULL,NULL,0,NULL,NULL,NULL),(23154,'NCBI Gene PubMed Count',NULL,3744,NULL,NULL,NULL,5,NULL,NULL,NULL),(23155,'NCBI Gene Summary',NULL,3745,NULL,'This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(23156,'NCBI Gene PubMed Count',NULL,3745,NULL,NULL,NULL,4,NULL,NULL,NULL),(23157,'NCBI Gene Summary',NULL,3746,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23158,'NCBI Gene PubMed Count',NULL,3746,NULL,NULL,NULL,56,NULL,NULL,NULL),(23159,'NCBI Gene Summary',NULL,3747,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23160,'NCBI Gene PubMed Count',NULL,3747,NULL,NULL,NULL,51,NULL,NULL,NULL),(23161,'NCBI Gene Summary',NULL,3748,NULL,'The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(23162,'NCBI Gene PubMed Count',NULL,3748,NULL,NULL,NULL,101,NULL,NULL,NULL),(23163,'NCBI Gene Summary',NULL,3749,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(23164,'NCBI Gene PubMed Count',NULL,3749,NULL,NULL,NULL,38,NULL,NULL,NULL),(23165,'NCBI Gene Summary',NULL,3750,NULL,'This gene encodes a protein that was found to be overexpressed in prostate adenocarcinomas. The encoded protein was found to interact with the lipid raft protein flotillin-1 and shuttle it from the cytoplasm to the nucleus in a cell cycle dependent manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(23166,'NCBI Gene PubMed Count',NULL,3750,NULL,NULL,NULL,25,NULL,NULL,NULL),(23167,'NCBI Gene Summary',NULL,3751,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23168,'NCBI Gene PubMed Count',NULL,3751,NULL,NULL,NULL,28,NULL,NULL,NULL),(23169,'NCBI Gene Summary',NULL,3752,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(23170,'NCBI Gene PubMed Count',NULL,3752,NULL,NULL,NULL,44,NULL,NULL,NULL),(23171,'NCBI Gene Summary',NULL,3753,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(23172,'NCBI Gene PubMed Count',NULL,3753,NULL,NULL,NULL,89,NULL,NULL,NULL),(23173,'NCBI Gene Summary',NULL,3754,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23174,'NCBI Gene PubMed Count',NULL,3754,NULL,NULL,NULL,48,NULL,NULL,NULL),(23175,'NCBI Gene Summary',NULL,3755,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(23176,'NCBI Gene PubMed Count',NULL,3755,NULL,NULL,NULL,49,NULL,NULL,NULL),(23177,'NCBI Gene Summary',NULL,3756,NULL,'This gene encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression of this protein and PTTG1 induces transcriptional activation of basic fibroblast growth factor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(23178,'NCBI Gene PubMed Count',NULL,3756,NULL,NULL,NULL,32,NULL,NULL,NULL),(23179,'NCBI Gene Summary',NULL,3757,NULL,'This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(23180,'NCBI Gene PubMed Count',NULL,3757,NULL,NULL,NULL,19,NULL,NULL,NULL),(23181,'NCBI Gene Summary',NULL,3758,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23182,'NCBI Gene PubMed Count',NULL,3758,NULL,NULL,NULL,38,NULL,NULL,NULL),(23183,'NCBI Gene Summary',NULL,3759,NULL,'This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(23184,'NCBI Gene PubMed Count',NULL,3759,NULL,NULL,NULL,3,NULL,NULL,NULL),(23185,'NCBI Gene Summary',NULL,3760,NULL,'This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(23186,'NCBI Gene PubMed Count',NULL,3760,NULL,NULL,NULL,78,NULL,NULL,NULL),(23187,'NCBI Gene Summary',NULL,3761,NULL,'The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(23188,'NCBI Gene PubMed Count',NULL,3761,NULL,NULL,NULL,175,NULL,NULL,NULL),(23189,'NCBI Gene PubMed Count',NULL,3762,NULL,NULL,NULL,14,NULL,NULL,NULL),(23190,'NCBI Gene Summary',NULL,3763,NULL,'This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing\'s sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(23191,'NCBI Gene PubMed Count',NULL,3763,NULL,NULL,NULL,539,NULL,NULL,NULL),(23192,'NCBI Gene PubMed Count',NULL,3764,NULL,NULL,NULL,10,NULL,NULL,NULL),(23193,'NCBI Gene PubMed Count',NULL,3765,NULL,NULL,NULL,10,NULL,NULL,NULL),(23194,'NCBI Gene PubMed Count',NULL,3766,NULL,NULL,NULL,20,NULL,NULL,NULL),(23195,'NCBI Gene Summary',NULL,3767,NULL,'Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23196,'NCBI Gene PubMed Count',NULL,3767,NULL,NULL,NULL,70,NULL,NULL,NULL),(23197,'NCBI Gene PubMed Count',NULL,3768,NULL,NULL,NULL,1,NULL,NULL,NULL),(23198,'NCBI Gene PubMed Count',NULL,3769,NULL,NULL,NULL,4,NULL,NULL,NULL),(23199,'NCBI Gene PubMed Count',NULL,3770,NULL,NULL,NULL,1,NULL,NULL,NULL),(23200,'NCBI Gene PubMed Count',NULL,3771,NULL,NULL,NULL,10,NULL,NULL,NULL),(23201,'NCBI Gene PubMed Count',NULL,3772,NULL,NULL,NULL,7,NULL,NULL,NULL),(23202,'NCBI Gene PubMed Count',NULL,3773,NULL,NULL,NULL,4,NULL,NULL,NULL),(23203,'NCBI Gene Summary',NULL,3774,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23204,'NCBI Gene PubMed Count',NULL,3774,NULL,NULL,NULL,70,NULL,NULL,NULL),(23205,'NCBI Gene PubMed Count',NULL,3775,NULL,NULL,NULL,4,NULL,NULL,NULL),(23206,'NCBI Gene PubMed Count',NULL,3776,NULL,NULL,NULL,6,NULL,NULL,NULL),(23207,'NCBI Gene Summary',NULL,3777,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson\'s disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23208,'NCBI Gene PubMed Count',NULL,3777,NULL,NULL,NULL,70,NULL,NULL,NULL),(23209,'NCBI Gene PubMed Count',NULL,3778,NULL,NULL,NULL,3,NULL,NULL,NULL),(23210,'NCBI Gene Summary',NULL,3779,NULL,'This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This protease exhibits trypsin-like substrate specificity, cleaving protein substrates at the carboxyl terminus of lysine or arginine residues. The encoded protease partially mediates proteolytic activation of the epithelial sodium channel, a regulator of sodium balance, and may also play a role in epithelial barrier formation. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(23211,'NCBI Gene PubMed Count',NULL,3779,NULL,NULL,NULL,62,NULL,NULL,NULL),(23212,'NCBI Gene Summary',NULL,3780,NULL,'This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(23213,'NCBI Gene PubMed Count',NULL,3780,NULL,NULL,NULL,26,NULL,NULL,NULL),(23214,'NCBI Gene Summary',NULL,3781,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(23215,'NCBI Gene PubMed Count',NULL,3781,NULL,NULL,NULL,50,NULL,NULL,NULL),(23216,'NCBI Gene Summary',NULL,3782,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(23217,'NCBI Gene PubMed Count',NULL,3782,NULL,NULL,NULL,75,NULL,NULL,NULL),(23218,'NCBI Gene Summary',NULL,3783,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23219,'NCBI Gene PubMed Count',NULL,3783,NULL,NULL,NULL,33,NULL,NULL,NULL),(23220,'NCBI Gene Summary',NULL,3784,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23221,'NCBI Gene PubMed Count',NULL,3784,NULL,NULL,NULL,54,NULL,NULL,NULL),(23222,'NCBI Gene Summary',NULL,3785,NULL,'Proteasomes generate peptides that are presented by major histocompatibility complex (MHC) I molecules to other cells of the immune system. Proteolysis is conducted by 20S proteasomes, complexes of 28 subunits arranged as a cylinder in 4 heteroheptameric rings: alpha-1 to -7, beta-1 to -7, beta-1 to -7, and alpha-1 to -7. The catalytic subunits are beta-1 (PSMB6; MIM 600307), beta-2 (PSMB7; MIM 604030), and beta-5 (PSMB5; MIM 600306). Three additional subunits, beta-1i (PSMB9; MIM 177045), beta-2i (PSMB10; MIM 176847), and beta-5i (PSMB8; MIM 177046), are induced by gamma-interferon (IFNG; MIM 147570) and are preferentially incorporated into proteasomes to make immunoproteasomes. PSMB11, or beta-5t, is a catalytic subunit expressed exclusively in cortical thymic epithelial cells (Murata et al., 2007 [PubMed 17540904]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23223,'NCBI Gene PubMed Count',NULL,3785,NULL,NULL,NULL,10,NULL,NULL,NULL),(23224,'NCBI Gene PubMed Count',NULL,3787,NULL,NULL,NULL,7,NULL,NULL,NULL),(23225,'NCBI Gene Summary',NULL,3788,NULL,'This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(23226,'NCBI Gene PubMed Count',NULL,3788,NULL,NULL,NULL,39,NULL,NULL,NULL),(23227,'NCBI Gene Summary',NULL,3789,NULL,'This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(23228,'NCBI Gene PubMed Count',NULL,3789,NULL,NULL,NULL,142,NULL,NULL,NULL),(23229,'NCBI Gene PubMed Count',NULL,3790,NULL,NULL,NULL,5,NULL,NULL,NULL),(23230,'NCBI Gene Summary',NULL,3791,NULL,'This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(23231,'NCBI Gene PubMed Count',NULL,3791,NULL,NULL,NULL,24,NULL,NULL,NULL),(23232,'NCBI Gene Summary',NULL,3792,NULL,'This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23233,'NCBI Gene PubMed Count',NULL,3792,NULL,NULL,NULL,12,NULL,NULL,NULL),(23234,'NCBI Gene Summary',NULL,3793,NULL,'This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(23235,'NCBI Gene PubMed Count',NULL,3793,NULL,NULL,NULL,4,NULL,NULL,NULL),(23236,'NCBI Gene Summary',NULL,3794,NULL,'This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(23237,'NCBI Gene PubMed Count',NULL,3794,NULL,NULL,NULL,1,NULL,NULL,NULL),(23238,'NCBI Gene Summary',NULL,3795,NULL,'This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(23239,'NCBI Gene PubMed Count',NULL,3795,NULL,NULL,NULL,2,NULL,NULL,NULL),(23240,'NCBI Gene Summary',NULL,3796,NULL,'This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(23241,'NCBI Gene PubMed Count',NULL,3796,NULL,NULL,NULL,1,NULL,NULL,NULL),(23242,'NCBI Gene Summary',NULL,3797,NULL,'The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(23243,'NCBI Gene PubMed Count',NULL,3797,NULL,NULL,NULL,60,NULL,NULL,NULL),(23244,'NCBI Gene PubMed Count',NULL,3798,NULL,NULL,NULL,3,NULL,NULL,NULL),(23245,'NCBI Gene Summary',NULL,3800,NULL,'This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23246,'NCBI Gene PubMed Count',NULL,3800,NULL,NULL,NULL,31,NULL,NULL,NULL),(23247,'NCBI Gene Summary',NULL,3801,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23248,'NCBI Gene PubMed Count',NULL,3801,NULL,NULL,NULL,43,NULL,NULL,NULL),(23249,'NCBI Gene Summary',NULL,3802,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(23250,'NCBI Gene PubMed Count',NULL,3802,NULL,NULL,NULL,26,NULL,NULL,NULL),(23251,'NCBI Gene Summary',NULL,3803,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23252,'NCBI Gene PubMed Count',NULL,3803,NULL,NULL,NULL,108,NULL,NULL,NULL),(23253,'NCBI Gene PubMed Count',NULL,3804,NULL,NULL,NULL,5,NULL,NULL,NULL),(23254,'NCBI Gene Summary',NULL,3805,NULL,'The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(23255,'NCBI Gene PubMed Count',NULL,3805,NULL,NULL,NULL,26,NULL,NULL,NULL),(23256,'NCBI Gene PubMed Count',NULL,3806,NULL,NULL,NULL,34,NULL,NULL,NULL),(23257,'NCBI Gene PubMed Count',NULL,3807,NULL,NULL,NULL,1,NULL,NULL,NULL),(23258,'NCBI Gene Summary',NULL,3808,NULL,'This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(23259,'NCBI Gene PubMed Count',NULL,3808,NULL,NULL,NULL,22,NULL,NULL,NULL),(23260,'NCBI Gene Summary',NULL,3809,NULL,'This gene is located within a large protease gene cluster on chromosome 16. It belongs to the group-1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is expressed mainly in the pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(23261,'NCBI Gene PubMed Count',NULL,3809,NULL,NULL,NULL,8,NULL,NULL,NULL),(23262,'NCBI Gene Summary',NULL,3810,NULL,'This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(23263,'NCBI Gene PubMed Count',NULL,3810,NULL,NULL,NULL,7,NULL,NULL,NULL),(23264,'NCBI Gene PubMed Count',NULL,3811,NULL,NULL,NULL,5,NULL,NULL,NULL),(23265,'NCBI Gene PubMed Count',NULL,3812,NULL,NULL,NULL,143,NULL,NULL,NULL),(23266,'NCBI Gene Summary',NULL,3813,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(23267,'NCBI Gene PubMed Count',NULL,3813,NULL,NULL,NULL,56,NULL,NULL,NULL),(23268,'NCBI Gene Summary',NULL,3814,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23269,'NCBI Gene PubMed Count',NULL,3814,NULL,NULL,NULL,86,NULL,NULL,NULL),(23270,'NCBI Gene Summary',NULL,3815,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(23271,'NCBI Gene PubMed Count',NULL,3815,NULL,NULL,NULL,91,NULL,NULL,NULL),(23272,'NCBI Gene Summary',NULL,3816,NULL,'This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(23273,'NCBI Gene PubMed Count',NULL,3816,NULL,NULL,NULL,56,NULL,NULL,NULL),(23274,'NCBI Gene Summary',NULL,3817,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(23275,'NCBI Gene PubMed Count',NULL,3817,NULL,NULL,NULL,68,NULL,NULL,NULL),(23276,'NCBI Gene Summary',NULL,3818,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23277,'NCBI Gene PubMed Count',NULL,3818,NULL,NULL,NULL,50,NULL,NULL,NULL),(23278,'NCBI Gene PubMed Count',NULL,3819,NULL,NULL,NULL,6,NULL,NULL,NULL),(23279,'NCBI Gene Summary',NULL,3820,NULL,'The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23280,'NCBI Gene PubMed Count',NULL,3820,NULL,NULL,NULL,39,NULL,NULL,NULL),(23281,'NCBI Gene Summary',NULL,3821,NULL,'Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23282,'NCBI Gene PubMed Count',NULL,3821,NULL,NULL,NULL,13,NULL,NULL,NULL),(23283,'NCBI Gene PubMed Count',NULL,3822,NULL,NULL,NULL,10,NULL,NULL,NULL),(23284,'NCBI Gene PubMed Count',NULL,3823,NULL,NULL,NULL,5,NULL,NULL,NULL),(23285,'NCBI Gene PubMed Count',NULL,3824,NULL,NULL,NULL,13,NULL,NULL,NULL),(23286,'NCBI Gene Summary',NULL,3825,NULL,'This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(23287,'NCBI Gene PubMed Count',NULL,3825,NULL,NULL,NULL,72,NULL,NULL,NULL),(23288,'NCBI Gene Summary',NULL,3826,NULL,'This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(23289,'NCBI Gene PubMed Count',NULL,3826,NULL,NULL,NULL,17,NULL,NULL,NULL),(23290,'NCBI Gene Summary',NULL,3827,NULL,'The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23291,'NCBI Gene PubMed Count',NULL,3827,NULL,NULL,NULL,118,NULL,NULL,NULL),(23292,'NCBI Gene PubMed Count',NULL,3828,NULL,NULL,NULL,6,NULL,NULL,NULL),(23293,'NCBI Gene Summary',NULL,3829,NULL,'PSO4 is the human homolog of yeast Pso4, a gene essential for cell survival and DNA repair (Beck et al., 2008 [PubMed 18263876]).[supplied by OMIM, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(23294,'NCBI Gene PubMed Count',NULL,3829,NULL,NULL,NULL,54,NULL,NULL,NULL),(23295,'NCBI Gene Summary',NULL,3830,NULL,'The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23296,'NCBI Gene PubMed Count',NULL,3830,NULL,NULL,NULL,37,NULL,NULL,NULL),(23297,'NCBI Gene PubMed Count',NULL,3831,NULL,NULL,NULL,3,NULL,NULL,NULL),(23298,'NCBI Gene PubMed Count',NULL,3832,NULL,NULL,NULL,4,NULL,NULL,NULL),(23299,'NCBI Gene PubMed Count',NULL,3833,NULL,NULL,NULL,2,NULL,NULL,NULL),(23300,'NCBI Gene Summary',NULL,3834,NULL,'The protein encoded by this gene belongs to the B-cell CLL/lymphoma 2 and adenovirus E1B 19 kDa interacting family, whose members play roles in many cellular processes including apotosis, cell transformation, and synaptic function. Several functions for this protein have been demonstrated including suppression of Ras homolog family member A activity, which results in reduced stress fiber formation and suppression of oncogenic cellular transformation. A high molecular weight isoform of this protein has also been shown to colocalize with Adaptor protein complex 2, beta-Adaptin and endodermal markers, suggesting an involvement in post-endocytic trafficking. In prostate cancer cells, this gene acts as a tumor suppressor and its expression is regulated by prostate cancer antigen 3, a non-protein coding gene on the opposite DNA strand in an intron of this gene. Prostate cancer antigen 3 regulates levels of this gene through formation of a double-stranded RNA that undergoes adenosine deaminase actin on RNA-dependent adenosine-to-inosine RNA editing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(23301,'NCBI Gene PubMed Count',NULL,3834,NULL,NULL,NULL,32,NULL,NULL,NULL),(23302,'NCBI Gene Summary',NULL,3835,NULL,'The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(23303,'NCBI Gene PubMed Count',NULL,3835,NULL,NULL,NULL,43,NULL,NULL,NULL),(23304,'NCBI Gene Summary',NULL,3836,NULL,'This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(23305,'NCBI Gene PubMed Count',NULL,3836,NULL,NULL,NULL,31,NULL,NULL,NULL),(23306,'NCBI Gene Summary',NULL,3837,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23307,'NCBI Gene PubMed Count',NULL,3837,NULL,NULL,NULL,64,NULL,NULL,NULL),(23308,'NCBI Gene Summary',NULL,3838,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L13P family of ribosomal proteins that is a component of the 60S subunit. The encoded protein also plays a role in the repression of inflammatory genes as a component of the IFN-gamma-activated inhibitor of translation (GAIT) complex. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in the second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23309,'NCBI Gene PubMed Count',NULL,3838,NULL,NULL,NULL,38,NULL,NULL,NULL),(23310,'NCBI Gene Summary',NULL,3839,NULL,'The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(23311,'NCBI Gene PubMed Count',NULL,3839,NULL,NULL,NULL,175,NULL,NULL,NULL),(23312,'NCBI Gene Summary',NULL,3840,NULL,'The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(23313,'NCBI Gene PubMed Count',NULL,3840,NULL,NULL,NULL,12,NULL,NULL,NULL),(23314,'NCBI Gene Summary',NULL,3841,NULL,'This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(23315,'NCBI Gene PubMed Count',NULL,3841,NULL,NULL,NULL,24,NULL,NULL,NULL),(23316,'NCBI Gene PubMed Count',NULL,3842,NULL,NULL,NULL,22,NULL,NULL,NULL),(23317,'NCBI Gene PubMed Count',NULL,3843,NULL,NULL,NULL,2,NULL,NULL,NULL),(23318,'NCBI Gene PubMed Count',NULL,3844,NULL,NULL,NULL,15,NULL,NULL,NULL),(23319,'NCBI Gene Summary',NULL,3845,NULL,'This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(23320,'NCBI Gene PubMed Count',NULL,3845,NULL,NULL,NULL,50,NULL,NULL,NULL),(23321,'NCBI Gene PubMed Count',NULL,3846,NULL,NULL,NULL,6,NULL,NULL,NULL),(23322,'NCBI Gene PubMed Count',NULL,3847,NULL,NULL,NULL,1,NULL,NULL,NULL),(23323,'NCBI Gene Summary',NULL,3848,NULL,'This gene is highly expressed in prostate, rectum, colon, and testis. This gene may produce a non-coding RNA or may encode a short protein that might localize to the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(23324,'NCBI Gene PubMed Count',NULL,3848,NULL,NULL,NULL,2,NULL,NULL,NULL),(23325,'NCBI Gene Summary',NULL,3849,NULL,'The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23326,'NCBI Gene PubMed Count',NULL,3849,NULL,NULL,NULL,61,NULL,NULL,NULL),(23327,'NCBI Gene Summary',NULL,3850,NULL,'Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23328,'NCBI Gene PubMed Count',NULL,3850,NULL,NULL,NULL,54,NULL,NULL,NULL),(23329,'NCBI Gene PubMed Count',NULL,3851,NULL,NULL,NULL,2,NULL,NULL,NULL),(23330,'NCBI Gene PubMed Count',NULL,3852,NULL,NULL,NULL,2,NULL,NULL,NULL),(23331,'NCBI Gene Summary',NULL,3853,NULL,'The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer\'s disease. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(23332,'NCBI Gene PubMed Count',NULL,3853,NULL,NULL,NULL,30,NULL,NULL,NULL),(23333,'NCBI Gene PubMed Count',NULL,3854,NULL,NULL,NULL,5,NULL,NULL,NULL),(23334,'NCBI Gene PubMed Count',NULL,3855,NULL,NULL,NULL,13,NULL,NULL,NULL),(23335,'NCBI Gene Summary',NULL,3856,NULL,'This gene encodes a member of a family of proteins that may have roles in transcription and other nuclear processes. The encoded protein contains a KRAB (Kruppel-associated box) domain -A box and a SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain and may function as a histone methyltransferase. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(23336,'NCBI Gene PubMed Count',NULL,3856,NULL,NULL,NULL,10,NULL,NULL,NULL),(23337,'NCBI Gene Summary',NULL,3857,NULL,'This gene encodes a transcriptional regulator of sensory neuronal specification that plays a critical role in pain perception. The encoded protein contains an N-terminal PRDI-BF1 and RIZ homology (PR) domain, a SET domain, and three C-terminal C2H2 zinc finger DNA-binding domains. Naturally occurring mutations in this gene are associated with congenital insensitivity to pain (CIP), and hereditary sensory and autonomic neuropathies (HSAN\'s) affecting peripheral sensory and autonomic neurons. Deregulation of this gene is associated with solid cancers and hematological malignancies including chronic myeloid leukaemia. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(23338,'NCBI Gene PubMed Count',NULL,3857,NULL,NULL,NULL,16,NULL,NULL,NULL),(23339,'NCBI Gene Summary',NULL,3858,NULL,'This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23340,'NCBI Gene PubMed Count',NULL,3858,NULL,NULL,NULL,58,NULL,NULL,NULL),(23341,'NCBI Gene Summary',NULL,3859,NULL,'The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23342,'NCBI Gene PubMed Count',NULL,3859,NULL,NULL,NULL,30,NULL,NULL,NULL),(23343,'NCBI Gene Summary',NULL,3860,NULL,'C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23344,'NCBI Gene PubMed Count',NULL,3860,NULL,NULL,NULL,10,NULL,NULL,NULL),(23345,'NCBI Gene PubMed Count',NULL,3861,NULL,NULL,NULL,8,NULL,NULL,NULL),(23346,'NCBI Gene Summary',NULL,3862,NULL,'The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23347,'NCBI Gene PubMed Count',NULL,3862,NULL,NULL,NULL,673,NULL,NULL,NULL),(23348,'NCBI Gene Summary',NULL,3863,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(23349,'NCBI Gene PubMed Count',NULL,3863,NULL,NULL,NULL,84,NULL,NULL,NULL),(23350,'NCBI Gene Summary',NULL,3864,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(23351,'NCBI Gene PubMed Count',NULL,3864,NULL,NULL,NULL,99,NULL,NULL,NULL),(23352,'NCBI Gene Summary',NULL,3865,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(23353,'NCBI Gene PubMed Count',NULL,3865,NULL,NULL,NULL,37,NULL,NULL,NULL),(23354,'NCBI Gene Summary',NULL,3866,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(23355,'NCBI Gene PubMed Count',NULL,3866,NULL,NULL,NULL,17,NULL,NULL,NULL),(23356,'NCBI Gene Summary',NULL,3867,NULL,'The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(23357,'NCBI Gene PubMed Count',NULL,3867,NULL,NULL,NULL,316,NULL,NULL,NULL),(23358,'NCBI Gene Summary',NULL,3868,NULL,'The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(23359,'NCBI Gene PubMed Count',NULL,3868,NULL,NULL,NULL,5,NULL,NULL,NULL),(23360,'NCBI Gene Summary',NULL,3869,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23361,'NCBI Gene PubMed Count',NULL,3869,NULL,NULL,NULL,15,NULL,NULL,NULL),(23362,'NCBI Gene Summary',NULL,3870,NULL,'This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(23363,'NCBI Gene PubMed Count',NULL,3870,NULL,NULL,NULL,37,NULL,NULL,NULL),(23364,'NCBI Gene PubMed Count',NULL,3871,NULL,NULL,NULL,15,NULL,NULL,NULL),(23365,'NCBI Gene Summary',NULL,3872,NULL,'The protein encoded by this gene is a secreted heparin-binding growth factor. The protein has significant roles in cell growth and survival, cell migration, angiogenesis and tumorigenesis. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(23366,'NCBI Gene PubMed Count',NULL,3872,NULL,NULL,NULL,140,NULL,NULL,NULL),(23367,'NCBI Gene PubMed Count',NULL,3873,NULL,NULL,NULL,28,NULL,NULL,NULL),(23368,'NCBI Gene Summary',NULL,3874,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23369,'NCBI Gene PubMed Count',NULL,3874,NULL,NULL,NULL,352,NULL,NULL,NULL),(23370,'NCBI Gene Summary',NULL,3875,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23371,'NCBI Gene PubMed Count',NULL,3875,NULL,NULL,NULL,81,NULL,NULL,NULL),(23372,'NCBI Gene Summary',NULL,3876,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23373,'NCBI Gene PubMed Count',NULL,3876,NULL,NULL,NULL,89,NULL,NULL,NULL),(23374,'NCBI Gene Summary',NULL,3877,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23375,'NCBI Gene PubMed Count',NULL,3877,NULL,NULL,NULL,47,NULL,NULL,NULL),(23376,'NCBI Gene Summary',NULL,3878,NULL,'The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. The 26 S proteasome may be involved in trinucleotide repeat expansion, a phenomenon which is associated with many hereditary neurological diseases. Pseudogenes have been identified on chromosomes 2 and 12. Alternative splicing results in multiple transcript variants [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(23377,'NCBI Gene PubMed Count',NULL,3878,NULL,NULL,NULL,54,NULL,NULL,NULL),(23378,'NCBI Gene Summary',NULL,3879,NULL,'This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(23379,'NCBI Gene PubMed Count',NULL,3879,NULL,NULL,NULL,32,NULL,NULL,NULL),(23380,'NCBI Gene Summary',NULL,3880,NULL,'This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves\' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(23381,'NCBI Gene PubMed Count',NULL,3880,NULL,NULL,NULL,511,NULL,NULL,NULL),(23382,'NCBI Gene Summary',NULL,3881,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23383,'NCBI Gene PubMed Count',NULL,3881,NULL,NULL,NULL,18,NULL,NULL,NULL),(23384,'NCBI Gene Summary',NULL,3882,NULL,'The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23385,'NCBI Gene PubMed Count',NULL,3882,NULL,NULL,NULL,6,NULL,NULL,NULL),(23386,'NCBI Gene Summary',NULL,3883,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(23387,'NCBI Gene PubMed Count',NULL,3883,NULL,NULL,NULL,280,NULL,NULL,NULL),(23388,'NCBI Gene PubMed Count',NULL,3884,NULL,NULL,NULL,15,NULL,NULL,NULL),(23389,'NCBI Gene Summary',NULL,3885,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(23390,'NCBI Gene PubMed Count',NULL,3885,NULL,NULL,NULL,12,NULL,NULL,NULL),(23391,'NCBI Gene Summary',NULL,3886,NULL,'This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(23392,'NCBI Gene PubMed Count',NULL,3886,NULL,NULL,NULL,5,NULL,NULL,NULL),(23393,'NCBI Gene Summary',NULL,3887,NULL,'The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23394,'NCBI Gene PubMed Count',NULL,3887,NULL,NULL,NULL,35,NULL,NULL,NULL),(23395,'NCBI Gene Summary',NULL,3888,NULL,'This gene encodes a member of the pentraxin protein family. The expression of this protein is induced by inflammatory cytokines in response to inflammatory stimuli in several mesenchymal and epithelial cell types, particularly endothelial cells and mononuclear phagocytes. The protein promotes fibrocyte differentiation and is involved in regulating inflammation and complement activation. It also plays a role in angiogenesis and tissue remodeling. The protein serves as a biomarker for several inflammatory conditions. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(23396,'NCBI Gene PubMed Count',NULL,3888,NULL,NULL,NULL,332,NULL,NULL,NULL),(23397,'NCBI Gene Summary',NULL,3889,NULL,'This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(23398,'NCBI Gene PubMed Count',NULL,3889,NULL,NULL,NULL,49,NULL,NULL,NULL),(23399,'NCBI Gene PubMed Count',NULL,3890,NULL,NULL,NULL,27,NULL,NULL,NULL),(23400,'NCBI Gene PubMed Count',NULL,3891,NULL,NULL,NULL,2,NULL,NULL,NULL),(23401,'NCBI Gene PubMed Count',NULL,3892,NULL,NULL,NULL,7,NULL,NULL,NULL),(23402,'NCBI Gene PubMed Count',NULL,3893,NULL,NULL,NULL,7,NULL,NULL,NULL),(23403,'NCBI Gene PubMed Count',NULL,3894,NULL,NULL,NULL,19,NULL,NULL,NULL),(23404,'NCBI Gene PubMed Count',NULL,3895,NULL,NULL,NULL,7,NULL,NULL,NULL),(23405,'NCBI Gene Summary',NULL,3896,NULL,'This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23406,'NCBI Gene PubMed Count',NULL,3896,NULL,NULL,NULL,10,NULL,NULL,NULL),(23407,'NCBI Gene PubMed Count',NULL,3897,NULL,NULL,NULL,5,NULL,NULL,NULL),(23408,'NCBI Gene PubMed Count',NULL,3898,NULL,NULL,NULL,5,NULL,NULL,NULL),(23409,'NCBI Gene Summary',NULL,3899,NULL,'The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23410,'NCBI Gene PubMed Count',NULL,3899,NULL,NULL,NULL,123,NULL,NULL,NULL),(23411,'NCBI Gene Summary',NULL,3900,NULL,'This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23412,'NCBI Gene PubMed Count',NULL,3900,NULL,NULL,NULL,39,NULL,NULL,NULL),(23413,'NCBI Gene Summary',NULL,3901,NULL,'The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23414,'NCBI Gene PubMed Count',NULL,3901,NULL,NULL,NULL,10,NULL,NULL,NULL),(23415,'NCBI Gene Summary',NULL,3902,NULL,'This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23416,'NCBI Gene PubMed Count',NULL,3902,NULL,NULL,NULL,145,NULL,NULL,NULL),(23417,'NCBI Gene Summary',NULL,3903,NULL,'The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23418,'NCBI Gene PubMed Count',NULL,3903,NULL,NULL,NULL,38,NULL,NULL,NULL),(23419,'NCBI Gene Summary',NULL,3904,NULL,'The protein encoded by this gene induces proliferation, migration, and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. It has little or no effect on a variety of other endothelial and non-endothelial cell types. Its expression is restricted to the steroidogenic glands (ovary, testis, adrenal, and placenta), is induced by hypoxia, and often complementary to the expression of vascular endothelial growth factor (VEGF), suggesting that these molecules function in a coordinated manner. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(23420,'NCBI Gene PubMed Count',NULL,3904,NULL,NULL,NULL,70,NULL,NULL,NULL),(23421,'NCBI Gene Summary',NULL,3905,NULL,'This gene encodes a member of the proline-rich protein family. The encoded protein has multiple proposed functions, including roles in pain suppression, penile erection, and protection of the eye surface. The QRFSR pentapeptide, known as opiorphin, is derived from the N-terminal of this protein. Opiorphin inhibits the enkephalin-inactivating peptidases neprilysin and aminopeptidase N, and this activity is thought to reduce sensitivity to painful stimuli by effecting enkephalin-related activation of opioid-dependent pathways. Opiorphin may also act as an anti-depressant. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(23422,'NCBI Gene PubMed Count',NULL,3905,NULL,NULL,NULL,20,NULL,NULL,NULL),(23423,'NCBI Gene Summary',NULL,3906,NULL,'This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(23424,'NCBI Gene PubMed Count',NULL,3906,NULL,NULL,NULL,61,NULL,NULL,NULL),(23425,'NCBI Gene PubMed Count',NULL,3907,NULL,NULL,NULL,1,NULL,NULL,NULL),(23426,'NCBI Gene Summary',NULL,3908,NULL,'This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(23427,'NCBI Gene PubMed Count',NULL,3908,NULL,NULL,NULL,211,NULL,NULL,NULL),(23428,'NCBI Gene Summary',NULL,3909,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23429,'NCBI Gene PubMed Count',NULL,3909,NULL,NULL,NULL,91,NULL,NULL,NULL),(23430,'NCBI Gene Summary',NULL,3910,NULL,'The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(23431,'NCBI Gene PubMed Count',NULL,3910,NULL,NULL,NULL,32,NULL,NULL,NULL),(23432,'NCBI Gene Summary',NULL,3911,NULL,'The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23433,'NCBI Gene PubMed Count',NULL,3911,NULL,NULL,NULL,53,NULL,NULL,NULL),(23434,'NCBI Gene PubMed Count',NULL,3912,NULL,NULL,NULL,7,NULL,NULL,NULL),(23435,'NCBI Gene Summary',NULL,3913,NULL,'This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(23436,'NCBI Gene PubMed Count',NULL,3913,NULL,NULL,NULL,8,NULL,NULL,NULL),(23437,'NCBI Gene PubMed Count',NULL,3914,NULL,NULL,NULL,2,NULL,NULL,NULL),(23438,'NCBI Gene Summary',NULL,3915,NULL,'This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(23439,'NCBI Gene PubMed Count',NULL,3915,NULL,NULL,NULL,17,NULL,NULL,NULL),(23440,'NCBI Gene PubMed Count',NULL,3916,NULL,NULL,NULL,6,NULL,NULL,NULL),(23441,'NCBI Gene PubMed Count',NULL,3917,NULL,NULL,NULL,1,NULL,NULL,NULL),(23442,'NCBI Gene Summary',NULL,3918,NULL,'The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in expression of this gene during fetal but not adult wound healing suggest a possible role in mechanisms that control mammalian dermal regeneration and prevent formation of scar response to wounding. The expression patterns provide evidence consistent with a role in fetal skin development and a possible role in cellular proliferation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23443,'NCBI Gene PubMed Count',NULL,3918,NULL,NULL,NULL,13,NULL,NULL,NULL),(23444,'NCBI Gene PubMed Count',NULL,3919,NULL,NULL,NULL,8,NULL,NULL,NULL),(23445,'NCBI Gene PubMed Count',NULL,3920,NULL,NULL,NULL,6,NULL,NULL,NULL),(23446,'NCBI Gene Summary',NULL,3921,NULL,'This gene encodes a member of the trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23447,'NCBI Gene PubMed Count',NULL,3921,NULL,NULL,NULL,7,NULL,NULL,NULL),(23448,'NCBI Gene Summary',NULL,3922,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(23449,'NCBI Gene PubMed Count',NULL,3922,NULL,NULL,NULL,98,NULL,NULL,NULL),(23450,'NCBI Gene Summary',NULL,3923,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(23451,'NCBI Gene PubMed Count',NULL,3923,NULL,NULL,NULL,71,NULL,NULL,NULL),(23452,'NCBI Gene PubMed Count',NULL,3924,NULL,NULL,NULL,1,NULL,NULL,NULL),(23453,'NCBI Gene Summary',NULL,3925,NULL,'This gene encodes a member of the immunoglobulin superfamily. The encoded transmembrane protein has been associated with the development of various tissues, especially neurogenesis. It has been suggested that this gene may be associated with attention deficit hyperactivity disorder (ADHD). [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(23454,'NCBI Gene PubMed Count',NULL,3925,NULL,NULL,NULL,11,NULL,NULL,NULL),(23455,'NCBI Gene PubMed Count',NULL,3926,NULL,NULL,NULL,3,NULL,NULL,NULL),(23456,'NCBI Gene PubMed Count',NULL,3927,NULL,NULL,NULL,13,NULL,NULL,NULL),(23457,'NCBI Gene Summary',NULL,3928,NULL,'This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23458,'NCBI Gene PubMed Count',NULL,3928,NULL,NULL,NULL,4,NULL,NULL,NULL),(23459,'NCBI Gene Summary',NULL,3929,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23460,'NCBI Gene PubMed Count',NULL,3929,NULL,NULL,NULL,76,NULL,NULL,NULL),(23461,'NCBI Gene Summary',NULL,3930,NULL,'This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23462,'NCBI Gene PubMed Count',NULL,3930,NULL,NULL,NULL,46,NULL,NULL,NULL),(23463,'NCBI Gene Summary',NULL,3931,NULL,'The protein encoded by this gene is a magnesium or manganese-requiring phosphatase that is involved in several signaling pathways. The encoded protein downregulates apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(23464,'NCBI Gene PubMed Count',NULL,3931,NULL,NULL,NULL,17,NULL,NULL,NULL),(23465,'NCBI Gene PubMed Count',NULL,3932,NULL,NULL,NULL,2,NULL,NULL,NULL),(23466,'NCBI Gene Summary',NULL,3933,NULL,'This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(23467,'NCBI Gene PubMed Count',NULL,3933,NULL,NULL,NULL,8,NULL,NULL,NULL),(23468,'NCBI Gene Summary',NULL,3934,NULL,'This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23469,'NCBI Gene PubMed Count',NULL,3934,NULL,NULL,NULL,33,NULL,NULL,NULL),(23470,'NCBI Gene PubMed Count',NULL,3935,NULL,NULL,NULL,11,NULL,NULL,NULL),(23471,'NCBI Gene Summary',NULL,3936,NULL,'This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein interacts with peroxisome receptor 1 and plays an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. The use of alternate transcription start sites is thought to result in transcript variants that use different in-frame translational start codons to generate isoforms that are targeted to the mitochondrion (isoform L) or peroxisome/cytoplasm (isoform S). Multiple related pseudogenes have been defined for this gene. [provided by RefSeq, Nov 2017]',NULL,NULL,NULL,NULL,NULL),(23472,'NCBI Gene PubMed Count',NULL,3936,NULL,NULL,NULL,67,NULL,NULL,NULL),(23473,'NCBI Gene Summary',NULL,3937,NULL,'The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23474,'NCBI Gene PubMed Count',NULL,3937,NULL,NULL,NULL,28,NULL,NULL,NULL),(23475,'NCBI Gene PubMed Count',NULL,3938,NULL,NULL,NULL,11,NULL,NULL,NULL),(23476,'NCBI Gene Summary',NULL,3939,NULL,'This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(23477,'NCBI Gene PubMed Count',NULL,3939,NULL,NULL,NULL,171,NULL,NULL,NULL),(23478,'NCBI Gene Summary',NULL,3940,NULL,'This gene encodes a protein phosphatase I-interacting protein that promotes the dephosphorylation of eukaryotic translation initiation factor 2A to regulate translation under conditions of cellular stress. The transcribed messenger RNA contains two upstream open reading frames (ORFs) that repress translation of the main protein coding ORF under normal conditions, while the protein coding ORF is expressed at high levels in response to stress. Continual translation of the mRNA under conditions of eukaryotic translation initiation factor 2A inactivation is thought to create a feedback loop for reactivation of the gene during recovery from stress. In addition, it has been shown that this protein plays a role in membrane traffic that is independent of translation and that it is required for exocytosis from erythroleukemia cells. Allelic variants of this gene are associated with microcephaly, short stature, and impaired glucose metabolism. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(23479,'NCBI Gene PubMed Count',NULL,3940,NULL,NULL,NULL,18,NULL,NULL,NULL),(23480,'NCBI Gene Summary',NULL,3941,NULL,'This gene encodes a mitochondrial protein with antioxidant function. The protein is similar to the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase, and it can rescue bacterial resistance to alkylhydroperoxide in E. coli that lack the C22 subunit. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologs suggest that these genes consist of a family that is responsible for the regulation of cellular proliferation, differentiation and antioxidant functions. This family member can protect cells from oxidative stress, and it can promote cell survival in prostate cancer. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 3, 13 and 22. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(23481,'NCBI Gene PubMed Count',NULL,3941,NULL,NULL,NULL,101,NULL,NULL,NULL),(23482,'NCBI Gene Summary',NULL,3942,NULL,'This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(23483,'NCBI Gene PubMed Count',NULL,3942,NULL,NULL,NULL,32,NULL,NULL,NULL),(23484,'NCBI Gene Summary',NULL,3943,NULL,'LIM domain only 6 is a three LIM domain-containing protein.  The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23485,'NCBI Gene PubMed Count',NULL,3943,NULL,NULL,NULL,9,NULL,NULL,NULL),(23486,'NCBI Gene Summary',NULL,3944,NULL,'This gene encodes the anterior pituitary hormone prolactin. This secreted hormone is a growth regulator for many tissues, including cells of the immune system. It may also play a role in cell survival by suppressing apoptosis, and it is essential for lactation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(23487,'NCBI Gene PubMed Count',NULL,3944,NULL,NULL,NULL,268,NULL,NULL,NULL),(23488,'NCBI Gene Summary',NULL,3945,NULL,'The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(23489,'NCBI Gene PubMed Count',NULL,3945,NULL,NULL,NULL,724,NULL,NULL,NULL),(23490,'NCBI Gene Summary',NULL,3946,NULL,'Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis, and are the major DNA-binding proteins in the nucleus of sperm in many vertebrates. They package the sperm DNA into a highly condensed complex in a volume less than 5% of a somatic cell nucleus. Many mammalian species have only one protamine (protamine 1); however, a few species, including human and mouse, have two. This gene encodes protamine 2, which is cleaved to give rise to a family of protamine 2 peptides. Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(23491,'NCBI Gene PubMed Count',NULL,3946,NULL,NULL,NULL,57,NULL,NULL,NULL),(23492,'NCBI Gene PubMed Count',NULL,3947,NULL,NULL,NULL,7,NULL,NULL,NULL),(23493,'NCBI Gene Summary',NULL,3948,NULL,'This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(23494,'NCBI Gene PubMed Count',NULL,3948,NULL,NULL,NULL,84,NULL,NULL,NULL),(23495,'NCBI Gene Summary',NULL,3949,NULL,'This gene is similar to the protein kinase, X-linked gene in the pseudoautosomal region of the X chromosome. The gene is classified as a transcribed pseudogene because it has lost a coding exon that results in all transcripts being candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(23496,'NCBI Gene PubMed Count',NULL,3949,NULL,NULL,NULL,9,NULL,NULL,NULL),(23497,'NCBI Gene Summary',NULL,3950,NULL,'This gene encodes a protein expressed in the suprachiasmatic nucleus (SCN) circadian clock that may function as the output component of the circadian clock. The secreted form of the encoded protein may also serve as a chemoattractant for neuronal precursor cells in the olfactory bulb. Proteins from other vertebrates which are similar to this gene product were isolated based on homology to snake venom and secretions from frog skin, and have been shown to have diverse functions. Mutations in this gene are associated with Kallmann syndrome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23498,'NCBI Gene PubMed Count',NULL,3950,NULL,NULL,NULL,48,NULL,NULL,NULL),(23499,'NCBI Gene Summary',NULL,3951,NULL,'This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in multiple transcript variants. Read-through transcription also exists between this gene and the upstream PRH1 (proline-rich protein HaeIII subfamily 1) gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(23500,'NCBI Gene PubMed Count',NULL,3951,NULL,NULL,NULL,13,NULL,NULL,NULL),(23501,'NCBI Gene Summary',NULL,3952,NULL,'This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(23502,'NCBI Gene PubMed Count',NULL,3952,NULL,NULL,NULL,511,NULL,NULL,NULL),(23503,'NCBI Gene Summary',NULL,3953,NULL,'This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(23504,'NCBI Gene PubMed Count',NULL,3953,NULL,NULL,NULL,15,NULL,NULL,NULL),(23505,'NCBI Gene Summary',NULL,3954,NULL,'This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(23506,'NCBI Gene PubMed Count',NULL,3954,NULL,NULL,NULL,68,NULL,NULL,NULL),(23507,'NCBI Gene Summary',NULL,3955,NULL,'This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(23508,'NCBI Gene PubMed Count',NULL,3955,NULL,NULL,NULL,95,NULL,NULL,NULL),(23509,'NCBI Gene Summary',NULL,3956,NULL,'This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit. The related protein in chicken can bind to c-Jun and can repress c-Jun-mediated transcriptional activation. Some studies have detected an association between variation in this gene and autism spectrum disorders, though others do not detect this relationship. There are multiple pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(23510,'NCBI Gene PubMed Count',NULL,3956,NULL,NULL,NULL,61,NULL,NULL,NULL),(23511,'NCBI Gene Summary',NULL,3957,NULL,'This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(23512,'NCBI Gene PubMed Count',NULL,3957,NULL,NULL,NULL,92,NULL,NULL,NULL),(23513,'NCBI Gene Summary',NULL,3958,NULL,'Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23514,'NCBI Gene PubMed Count',NULL,3958,NULL,NULL,NULL,22,NULL,NULL,NULL),(23515,'NCBI Gene Summary',NULL,3959,NULL,'Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23516,'NCBI Gene PubMed Count',NULL,3959,NULL,NULL,NULL,15,NULL,NULL,NULL),(23517,'NCBI Gene PubMed Count',NULL,3960,NULL,NULL,NULL,7,NULL,NULL,NULL),(23518,'NCBI Gene Summary',NULL,3961,NULL,'This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(23519,'NCBI Gene PubMed Count',NULL,3961,NULL,NULL,NULL,61,NULL,NULL,NULL),(23520,'NCBI Gene PubMed Count',NULL,3962,NULL,NULL,NULL,2,NULL,NULL,NULL),(23521,'NCBI Gene Summary',NULL,3963,NULL,'This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23522,'NCBI Gene PubMed Count',NULL,3963,NULL,NULL,NULL,7,NULL,NULL,NULL),(23523,'NCBI Gene PubMed Count',NULL,3964,NULL,NULL,NULL,3,NULL,NULL,NULL),(23524,'NCBI Gene Summary',NULL,3965,NULL,'This gene encodes a large protein of unknown function that contains internal regions of low complexity sequence. Alternative splicing results in multiple transcript variants. The transcript structure of the protein-coding variant at this locus is conserved between human and mouse. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(23525,'NCBI Gene PubMed Count',NULL,3965,NULL,NULL,NULL,2,NULL,NULL,NULL),(23526,'NCBI Gene PubMed Count',NULL,3966,NULL,NULL,NULL,11,NULL,NULL,NULL),(23527,'NCBI Gene PubMed Count',NULL,3967,NULL,NULL,NULL,11,NULL,NULL,NULL),(23528,'NCBI Gene PubMed Count',NULL,3968,NULL,NULL,NULL,3,NULL,NULL,NULL),(23529,'NCBI Gene Summary',NULL,3969,NULL,'This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(23530,'NCBI Gene PubMed Count',NULL,3969,NULL,NULL,NULL,105,NULL,NULL,NULL),(23531,'NCBI Gene PubMed Count',NULL,3970,NULL,NULL,NULL,6,NULL,NULL,NULL),(23532,'NCBI Gene Summary',NULL,3971,NULL,'This gene encodes a member of a group of membrane-anchored chymotrypsin (S1)-like serine proteases. The enocoded protein is primarily expressed in the Leydig and Sertoli cells of the testis and may be involved in male fertility. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(23533,'NCBI Gene PubMed Count',NULL,3971,NULL,NULL,NULL,5,NULL,NULL,NULL),(23534,'NCBI Gene Summary',NULL,3972,NULL,'This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(23535,'NCBI Gene PubMed Count',NULL,3972,NULL,NULL,NULL,9,NULL,NULL,NULL),(23536,'NCBI Gene Summary',NULL,3973,NULL,'This gene encodes an arginine-specific serine protease and member of the peptidase S1 family of proteins. The encoded protein may undergo proteolytic activation before storage in azurophil granules, in neutrophil cells of the immune system. Following neutrophil activation, the protease is released into the pericellular environment, where it may play a role in defense against microbial pathogens. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(23537,'NCBI Gene PubMed Count',NULL,3973,NULL,NULL,NULL,10,NULL,NULL,NULL),(23538,'NCBI Gene PubMed Count',NULL,3974,NULL,NULL,NULL,2,NULL,NULL,NULL),(23539,'NCBI Gene Summary',NULL,3975,NULL,'This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(23540,'NCBI Gene PubMed Count',NULL,3975,NULL,NULL,NULL,22,NULL,NULL,NULL),(23541,'NCBI Gene Summary',NULL,3976,NULL,'SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23542,'NCBI Gene PubMed Count',NULL,3976,NULL,NULL,NULL,11,NULL,NULL,NULL),(23543,'NCBI Gene Summary',NULL,3977,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S17P family of ribosomal proteins that is a component of the 40S subunit. This gene is co-transcribed with the small nucleolar RNA gene U35B, which is located in the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23544,'NCBI Gene PubMed Count',NULL,3977,NULL,NULL,NULL,29,NULL,NULL,NULL),(23545,'NCBI Gene PubMed Count',NULL,3978,NULL,NULL,NULL,38,NULL,NULL,NULL),(23546,'NCBI Gene Summary',NULL,3979,NULL,'This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(23547,'NCBI Gene PubMed Count',NULL,3979,NULL,NULL,NULL,94,NULL,NULL,NULL),(23548,'NCBI Gene Summary',NULL,3980,NULL,'The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(23549,'NCBI Gene PubMed Count',NULL,3980,NULL,NULL,NULL,40,NULL,NULL,NULL),(23550,'NCBI Gene Summary',NULL,3981,NULL,'This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(23551,'NCBI Gene PubMed Count',NULL,3981,NULL,NULL,NULL,22,NULL,NULL,NULL),(23552,'NCBI Gene PubMed Count',NULL,3982,NULL,NULL,NULL,7,NULL,NULL,NULL),(23553,'NCBI Gene PubMed Count',NULL,3983,NULL,NULL,NULL,6,NULL,NULL,NULL),(23554,'NCBI Gene Summary',NULL,3984,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belongs to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide range of stimuli, including growth factors, tumor-promoting agents, and mitogens. Dephosphorylation occurs at growth arrest. The protein may contribute to the control of cell growth and proliferation through the selective translation of particular classes of mRNA. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23555,'NCBI Gene PubMed Count',NULL,3984,NULL,NULL,NULL,86,NULL,NULL,NULL),(23556,'NCBI Gene Summary',NULL,3985,NULL,'This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(23557,'NCBI Gene PubMed Count',NULL,3985,NULL,NULL,NULL,114,NULL,NULL,NULL),(23558,'NCBI Gene PubMed Count',NULL,3986,NULL,NULL,NULL,3,NULL,NULL,NULL),(23559,'NCBI Gene PubMed Count',NULL,3987,NULL,NULL,NULL,53,NULL,NULL,NULL),(23560,'NCBI Gene Summary',NULL,3988,NULL,'This gene encodes a member of a family of proteins containing a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The encoded protein functions as a pre-mRNA splicing factor. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(23561,'NCBI Gene PubMed Count',NULL,3988,NULL,NULL,NULL,13,NULL,NULL,NULL),(23562,'NCBI Gene Summary',NULL,3989,NULL,'The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nuclear envelope reconstitution and nuclear migration. Mutations in this gene have been implicated in acephalic spermatozoa syndrome. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(23563,'NCBI Gene PubMed Count',NULL,3989,NULL,NULL,NULL,15,NULL,NULL,NULL),(23564,'NCBI Gene Summary',NULL,3990,NULL,'Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23565,'NCBI Gene PubMed Count',NULL,3990,NULL,NULL,NULL,42,NULL,NULL,NULL),(23566,'NCBI Gene Summary',NULL,3991,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(23567,'NCBI Gene PubMed Count',NULL,3991,NULL,NULL,NULL,38,NULL,NULL,NULL),(23568,'NCBI Gene PubMed Count',NULL,3992,NULL,NULL,NULL,9,NULL,NULL,NULL),(23569,'NCBI Gene PubMed Count',NULL,3993,NULL,NULL,NULL,7,NULL,NULL,NULL),(23570,'NCBI Gene Summary',NULL,3994,NULL,'This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(23571,'NCBI Gene PubMed Count',NULL,3994,NULL,NULL,NULL,12,NULL,NULL,NULL),(23572,'NCBI Gene Summary',NULL,3995,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23573,'NCBI Gene PubMed Count',NULL,3995,NULL,NULL,NULL,20,NULL,NULL,NULL),(23574,'NCBI Gene PubMed Count',NULL,3996,NULL,NULL,NULL,21,NULL,NULL,NULL),(23575,'NCBI Gene Summary',NULL,3997,NULL,'This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. Alternative splicing of this gene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this gene, but their full length nature have not been determined.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(23576,'NCBI Gene PubMed Count',NULL,3997,NULL,NULL,NULL,86,NULL,NULL,NULL),(23577,'NCBI Gene PubMed Count',NULL,3998,NULL,NULL,NULL,19,NULL,NULL,NULL),(23578,'NCBI Gene PubMed Count',NULL,3999,NULL,NULL,NULL,8,NULL,NULL,NULL),(23579,'NCBI Gene PubMed Count',NULL,4000,NULL,NULL,NULL,33,NULL,NULL,NULL),(23580,'NCBI Gene Summary',NULL,4001,NULL,'SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(23581,'NCBI Gene PubMed Count',NULL,4001,NULL,NULL,NULL,16,NULL,NULL,NULL),(23582,'NCBI Gene Summary',NULL,4002,NULL,'This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(23583,'NCBI Gene PubMed Count',NULL,4002,NULL,NULL,NULL,201,NULL,NULL,NULL),(23584,'NCBI Gene Summary',NULL,4003,NULL,'The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(23585,'NCBI Gene PubMed Count',NULL,4003,NULL,NULL,NULL,94,NULL,NULL,NULL),(23586,'NCBI Gene Summary',NULL,4004,NULL,'The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two pseudogenes, one on chromosome 15 and the other on chromosome 21, have been found for this gene. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(23587,'NCBI Gene PubMed Count',NULL,4004,NULL,NULL,NULL,41,NULL,NULL,NULL),(23588,'NCBI Gene Summary',NULL,4005,NULL,'Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of an endogenous retrovirus provirus that has placenta specific expression. The protein encoded has the characteristics of a retroviral envelope protein but is truncated and lacks the transmembrane domain. The protein inhibits cell fusion by competing with syncytin-1 for binding to a cell receptor. [provided by RefSeq, May 2015]',NULL,NULL,NULL,NULL,NULL),(23589,'NCBI Gene PubMed Count',NULL,4005,NULL,NULL,NULL,6,NULL,NULL,NULL),(23590,'NCBI Gene Summary',NULL,4006,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit, where it forms part of the domain where translation is initiated. The protein belongs to the S3P family of ribosomal proteins. Studies of the mouse and rat proteins have demonstrated that the protein has an extraribosomal role as an endonuclease involved in the repair of UV-induced DNA damage. The protein appears to be located in both the cytoplasm and nucleus but not in the nucleolus. Higher levels of expression of this gene in colon adenocarcinomas and adenomatous polyps compared to adjacent normal colonic mucosa have been observed. This gene is co-transcribed with the small nucleolar RNA genes U15A and U15B, which are located in its first and fifth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(23591,'NCBI Gene PubMed Count',NULL,4006,NULL,NULL,NULL,91,NULL,NULL,NULL),(23592,'NCBI Gene Summary',NULL,4007,NULL,'The protein encoded by this gene is a ribosomal protein that is highly similar to RPS4Y1. This gene is located in the male-specific region of the Y chromosome. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(23593,'NCBI Gene PubMed Count',NULL,4007,NULL,NULL,NULL,4,NULL,NULL,NULL),(23594,'NCBI Gene Summary',NULL,4008,NULL,'Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23595,'NCBI Gene PubMed Count',NULL,4008,NULL,NULL,NULL,36,NULL,NULL,NULL),(23596,'NCBI Gene PubMed Count',NULL,4009,NULL,NULL,NULL,29,NULL,NULL,NULL),(23597,'NCBI Gene PubMed Count',NULL,4010,NULL,NULL,NULL,2,NULL,NULL,NULL),(23598,'NCBI Gene Summary',NULL,4011,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(23599,'NCBI Gene PubMed Count',NULL,4011,NULL,NULL,NULL,39,NULL,NULL,NULL),(23600,'NCBI Gene PubMed Count',NULL,4012,NULL,NULL,NULL,16,NULL,NULL,NULL),(23601,'NCBI Gene Summary',NULL,4013,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23602,'NCBI Gene PubMed Count',NULL,4013,NULL,NULL,NULL,8,NULL,NULL,NULL),(23603,'NCBI Gene Summary',NULL,4014,NULL,'This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23604,'NCBI Gene PubMed Count',NULL,4014,NULL,NULL,NULL,71,NULL,NULL,NULL),(23605,'NCBI Gene Summary',NULL,4015,NULL,'This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(23606,'NCBI Gene PubMed Count',NULL,4015,NULL,NULL,NULL,452,NULL,NULL,NULL),(23607,'NCBI Gene Summary',NULL,4016,NULL,'The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3\' end processing of histone transcripts. This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(23608,'NCBI Gene PubMed Count',NULL,4016,NULL,NULL,NULL,47,NULL,NULL,NULL),(23609,'NCBI Gene PubMed Count',NULL,4017,NULL,NULL,NULL,18,NULL,NULL,NULL),(23610,'NCBI Gene Summary',NULL,4018,NULL,'K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(23611,'NCBI Gene PubMed Count',NULL,4018,NULL,NULL,NULL,53,NULL,NULL,NULL),(23612,'NCBI Gene Summary',NULL,4019,NULL,'SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23613,'NCBI Gene PubMed Count',NULL,4019,NULL,NULL,NULL,6,NULL,NULL,NULL),(23614,'NCBI Gene Summary',NULL,4020,NULL,'This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(23615,'NCBI Gene PubMed Count',NULL,4020,NULL,NULL,NULL,34,NULL,NULL,NULL),(23616,'NCBI Gene Summary',NULL,4021,NULL,'This gene encodes a member of the ZIP family of metal ion transporters. The encoded protein functions as a zinc transporter. Mutations in this gene may be associated with susceptibility to carotid artery disease. Multiple transcript variants have been described. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(23617,'NCBI Gene PubMed Count',NULL,4021,NULL,NULL,NULL,38,NULL,NULL,NULL),(23618,'NCBI Gene PubMed Count',NULL,4022,NULL,NULL,NULL,3,NULL,NULL,NULL),(23619,'NCBI Gene Summary',NULL,4023,NULL,'This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(23620,'NCBI Gene PubMed Count',NULL,4023,NULL,NULL,NULL,12,NULL,NULL,NULL),(23621,'NCBI Gene PubMed Count',NULL,4024,NULL,NULL,NULL,21,NULL,NULL,NULL),(23622,'NCBI Gene PubMed Count',NULL,4025,NULL,NULL,NULL,9,NULL,NULL,NULL),(23623,'NCBI Gene PubMed Count',NULL,4026,NULL,NULL,NULL,4,NULL,NULL,NULL),(23624,'NCBI Gene Summary',NULL,4027,NULL,'SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(23625,'NCBI Gene PubMed Count',NULL,4027,NULL,NULL,NULL,9,NULL,NULL,NULL),(23626,'NCBI Gene Summary',NULL,4028,NULL,'Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(23627,'NCBI Gene PubMed Count',NULL,4028,NULL,NULL,NULL,32,NULL,NULL,NULL),(23628,'NCBI Gene PubMed Count',NULL,4029,NULL,NULL,NULL,52,NULL,NULL,NULL),(23629,'NCBI Gene Summary',NULL,4030,NULL,'This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(23630,'NCBI Gene PubMed Count',NULL,4030,NULL,NULL,NULL,19,NULL,NULL,NULL),(23631,'NCBI Gene Summary',NULL,4031,NULL,'Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23632,'NCBI Gene PubMed Count',NULL,4031,NULL,NULL,NULL,94,NULL,NULL,NULL),(23633,'NCBI Gene Summary',NULL,4032,NULL,'The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23634,'NCBI Gene PubMed Count',NULL,4032,NULL,NULL,NULL,52,NULL,NULL,NULL),(23635,'NCBI Gene Summary',NULL,4033,NULL,'This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(23636,'NCBI Gene PubMed Count',NULL,4033,NULL,NULL,NULL,148,NULL,NULL,NULL),(23637,'NCBI Gene PubMed Count',NULL,4034,NULL,NULL,NULL,7,NULL,NULL,NULL),(23638,'NCBI Gene PubMed Count',NULL,4035,NULL,NULL,NULL,15,NULL,NULL,NULL),(23639,'NCBI Gene Summary',NULL,4036,NULL,'The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. This protein has strong similarity to Mus musculus and Cricetulus griseus proteins.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(23640,'NCBI Gene PubMed Count',NULL,4036,NULL,NULL,NULL,26,NULL,NULL,NULL),(23641,'NCBI Gene Summary',NULL,4039,NULL,'The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23642,'NCBI Gene PubMed Count',NULL,4039,NULL,NULL,NULL,15,NULL,NULL,NULL),(23643,'NCBI Gene PubMed Count',NULL,4040,NULL,NULL,NULL,15,NULL,NULL,NULL),(23644,'NCBI Gene Summary',NULL,4041,NULL,'This gene encodes a transmembrane adaptor protein that is expressed in antigen-presenting cells and is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(23645,'NCBI Gene PubMed Count',NULL,4041,NULL,NULL,NULL,7,NULL,NULL,NULL),(23646,'NCBI Gene PubMed Count',NULL,4042,NULL,NULL,NULL,8,NULL,NULL,NULL),(23647,'NCBI Gene Summary',NULL,4043,NULL,'The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(23648,'NCBI Gene PubMed Count',NULL,4043,NULL,NULL,NULL,24,NULL,NULL,NULL),(23649,'NCBI Gene Summary',NULL,4044,NULL,'DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) family. Members of the TET protein family play a role in the DNA methylation process and gene activation. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(23650,'NCBI Gene PubMed Count',NULL,4044,NULL,NULL,NULL,113,NULL,NULL,NULL),(23651,'NCBI Gene Summary',NULL,4045,NULL,'Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23652,'NCBI Gene PubMed Count',NULL,4045,NULL,NULL,NULL,10,NULL,NULL,NULL),(23653,'NCBI Gene PubMed Count',NULL,4046,NULL,NULL,NULL,12,NULL,NULL,NULL),(23654,'NCBI Gene PubMed Count',NULL,4047,NULL,NULL,NULL,5,NULL,NULL,NULL),(23655,'NCBI Gene PubMed Count',NULL,4048,NULL,NULL,NULL,8,NULL,NULL,NULL),(23656,'NCBI Gene Summary',NULL,4049,NULL,'This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(23657,'NCBI Gene PubMed Count',NULL,4049,NULL,NULL,NULL,21,NULL,NULL,NULL),(23658,'NCBI Gene Summary',NULL,4050,NULL,'This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23659,'NCBI Gene PubMed Count',NULL,4050,NULL,NULL,NULL,15,NULL,NULL,NULL),(23660,'NCBI Gene Summary',NULL,4051,NULL,'The protein encoded by this gene is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2019]',NULL,NULL,NULL,NULL,NULL),(23661,'NCBI Gene PubMed Count',NULL,4051,NULL,NULL,NULL,299,NULL,NULL,NULL),(23662,'NCBI Gene Summary',NULL,4052,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23663,'NCBI Gene PubMed Count',NULL,4052,NULL,NULL,NULL,20,NULL,NULL,NULL),(23664,'NCBI Gene Summary',NULL,4053,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(23665,'NCBI Gene PubMed Count',NULL,4053,NULL,NULL,NULL,10,NULL,NULL,NULL),(23666,'NCBI Gene PubMed Count',NULL,4054,NULL,NULL,NULL,7,NULL,NULL,NULL),(23667,'NCBI Gene Summary',NULL,4055,NULL,'The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A\'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23668,'NCBI Gene PubMed Count',NULL,4055,NULL,NULL,NULL,30,NULL,NULL,NULL),(23669,'NCBI Gene Summary',NULL,4056,NULL,'This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(23670,'NCBI Gene PubMed Count',NULL,4056,NULL,NULL,NULL,25,NULL,NULL,NULL),(23671,'NCBI Gene PubMed Count',NULL,4057,NULL,NULL,NULL,5,NULL,NULL,NULL),(23672,'NCBI Gene PubMed Count',NULL,4058,NULL,NULL,NULL,6,NULL,NULL,NULL),(23673,'NCBI Gene Summary',NULL,4059,NULL,'This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5\'-PYGPYGGT-3\' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(23674,'NCBI Gene PubMed Count',NULL,4059,NULL,NULL,NULL,322,NULL,NULL,NULL),(23675,'NCBI Gene PubMed Count',NULL,4060,NULL,NULL,NULL,6,NULL,NULL,NULL),(23676,'NCBI Gene Summary',NULL,4061,NULL,'This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23677,'NCBI Gene PubMed Count',NULL,4061,NULL,NULL,NULL,250,NULL,NULL,NULL),(23678,'NCBI Gene Summary',NULL,4062,NULL,'The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23679,'NCBI Gene PubMed Count',NULL,4062,NULL,NULL,NULL,10,NULL,NULL,NULL),(23680,'NCBI Gene Summary',NULL,4063,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins of known structure in its lack of calcium binding ability in one EF-hand at the N-terminus. The protein is overexpressed in hyperproliferative skin diseases, exhibits antimicrobial activities against bacteria and induces immunomodulatory activities. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(23681,'NCBI Gene PubMed Count',NULL,4063,NULL,NULL,NULL,132,NULL,NULL,NULL),(23682,'NCBI Gene PubMed Count',NULL,4064,NULL,NULL,NULL,14,NULL,NULL,NULL),(23683,'NCBI Gene Summary',NULL,4065,NULL,'This locus is currently categorized as a non-transcribed pseudogene, but the locus type of this gene is unclear since it does contain an intact CDS. This locus lacks evidence indicating that it is transcribed, and very little of the upstream regions found in other family members are present at this locus. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(23684,'NCBI Gene PubMed Count',NULL,4065,NULL,NULL,NULL,4,NULL,NULL,NULL),(23685,'NCBI Gene Summary',NULL,4066,NULL,'Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23686,'NCBI Gene PubMed Count',NULL,4066,NULL,NULL,NULL,99,NULL,NULL,NULL),(23687,'NCBI Gene Summary',NULL,4067,NULL,'The mammalian kidney expresses a proton-coupled peptide transporter that is responsible for the absorption of small peptides, as well as beta-lactam antibiotics and other peptide-like drugs, from the tubular filtrate. This transporter, SLC15A2, belongs to the same gene family as SLC15A1 (MIM 600544), the proton-coupled peptide transporter found in the small intestine (Liu et al, 1995 [PubMed 7756356]).[supplied by OMIM, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(23688,'NCBI Gene PubMed Count',NULL,4067,NULL,NULL,NULL,42,NULL,NULL,NULL),(23689,'NCBI Gene Summary',NULL,4068,NULL,'SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23690,'NCBI Gene PubMed Count',NULL,4068,NULL,NULL,NULL,8,NULL,NULL,NULL),(23691,'NCBI Gene Summary',NULL,4069,NULL,'Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(23692,'NCBI Gene PubMed Count',NULL,4069,NULL,NULL,NULL,6,NULL,NULL,NULL),(23693,'NCBI Gene PubMed Count',NULL,4070,NULL,NULL,NULL,14,NULL,NULL,NULL),(23694,'NCBI Gene Summary',NULL,4071,NULL,'Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(23695,'NCBI Gene PubMed Count',NULL,4071,NULL,NULL,NULL,9,NULL,NULL,NULL),(23696,'NCBI Gene PubMed Count',NULL,4072,NULL,NULL,NULL,8,NULL,NULL,NULL),(23697,'NCBI Gene Summary',NULL,4073,NULL,'The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(23698,'NCBI Gene PubMed Count',NULL,4073,NULL,NULL,NULL,38,NULL,NULL,NULL),(23699,'NCBI Gene Summary',NULL,4074,NULL,'This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(23700,'NCBI Gene PubMed Count',NULL,4074,NULL,NULL,NULL,36,NULL,NULL,NULL),(23701,'NCBI Gene Summary',NULL,4075,NULL,'The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23702,'NCBI Gene PubMed Count',NULL,4075,NULL,NULL,NULL,67,NULL,NULL,NULL),(23703,'NCBI Gene Summary',NULL,4076,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. The protein includes an antimicrobial peptide which has antibacterial activity. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(23704,'NCBI Gene PubMed Count',NULL,4076,NULL,NULL,NULL,115,NULL,NULL,NULL),(23705,'NCBI Gene Summary',NULL,4077,NULL,'This gene is a member of the solute carrier family. The encoded protein is involved in the transport of 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS) from the nucleus or the cytosol to the Golgi lumen. This gene has been reported to be expressed preferentially in the human colon tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(23706,'NCBI Gene PubMed Count',NULL,4077,NULL,NULL,NULL,12,NULL,NULL,NULL),(23707,'NCBI Gene Summary',NULL,4078,NULL,'SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23708,'NCBI Gene PubMed Count',NULL,4078,NULL,NULL,NULL,4,NULL,NULL,NULL),(23709,'NCBI Gene Summary',NULL,4079,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23710,'NCBI Gene PubMed Count',NULL,4079,NULL,NULL,NULL,107,NULL,NULL,NULL),(23711,'NCBI Gene Summary',NULL,4080,NULL,'This gene is intronless and probably arose from retrotransposition of a similar gene. It has high sequence similarity to the gene encoding acyl-malonyl condensing enzyme on chromosome 17. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(23712,'NCBI Gene PubMed Count',NULL,4080,NULL,NULL,NULL,8,NULL,NULL,NULL),(23713,'NCBI Gene PubMed Count',NULL,4081,NULL,NULL,NULL,3,NULL,NULL,NULL),(23714,'NCBI Gene Summary',NULL,4082,NULL,'The protein encoded by this gene is a member of a transmembrane protein family that transports small molecules across membranes. The encoded protein has been found in lysosomal membranes, where it can transport catabolites from the lysosomes to the cytoplasm. This protein has been shown to be an effective transporter of the cytotoxic drug maytansine, which is used in antibody-based targeting of cancer cells. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(23715,'NCBI Gene PubMed Count',NULL,4082,NULL,NULL,NULL,9,NULL,NULL,NULL),(23716,'NCBI Gene Summary',NULL,4083,NULL,'This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(23717,'NCBI Gene PubMed Count',NULL,4083,NULL,NULL,NULL,49,NULL,NULL,NULL),(23718,'NCBI Gene Summary',NULL,4084,NULL,'The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23719,'NCBI Gene PubMed Count',NULL,4084,NULL,NULL,NULL,152,NULL,NULL,NULL),(23720,'NCBI Gene PubMed Count',NULL,4085,NULL,NULL,NULL,32,NULL,NULL,NULL),(23721,'NCBI Gene Summary',NULL,4086,NULL,'This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. The encoded protein is thought to serve as a molecular base to assemble a \'transcriptosome complex\' in the vicinity of actively transcribed genes. It is involved in the regulation of heat shock protein 27 transcription, can act as an estrogen receptor co-repressor and is a candidate for breast tumorigenesis. This gene is arranged head-to-head with a similar gene whose product has the same functions. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(23722,'NCBI Gene PubMed Count',NULL,4086,NULL,NULL,NULL,60,NULL,NULL,NULL),(23723,'NCBI Gene PubMed Count',NULL,4087,NULL,NULL,NULL,7,NULL,NULL,NULL),(23724,'NCBI Gene PubMed Count',NULL,4088,NULL,NULL,NULL,11,NULL,NULL,NULL),(23725,'NCBI Gene Summary',NULL,4089,NULL,'Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(23726,'NCBI Gene PubMed Count',NULL,4089,NULL,NULL,NULL,36,NULL,NULL,NULL),(23727,'NCBI Gene Summary',NULL,4090,NULL,'This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(23728,'NCBI Gene PubMed Count',NULL,4090,NULL,NULL,NULL,41,NULL,NULL,NULL),(23729,'NCBI Gene Summary',NULL,4091,NULL,'The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(23730,'NCBI Gene PubMed Count',NULL,4091,NULL,NULL,NULL,37,NULL,NULL,NULL),(23731,'NCBI Gene Summary',NULL,4092,NULL,'This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(23732,'NCBI Gene PubMed Count',NULL,4092,NULL,NULL,NULL,49,NULL,NULL,NULL),(23733,'NCBI Gene Summary',NULL,4093,NULL,'This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(23734,'NCBI Gene PubMed Count',NULL,4093,NULL,NULL,NULL,17,NULL,NULL,NULL),(23735,'NCBI Gene Summary',NULL,4094,NULL,'This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23736,'NCBI Gene PubMed Count',NULL,4094,NULL,NULL,NULL,185,NULL,NULL,NULL),(23737,'NCBI Gene Summary',NULL,4095,NULL,'This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(23738,'NCBI Gene PubMed Count',NULL,4095,NULL,NULL,NULL,12,NULL,NULL,NULL),(23739,'NCBI Gene Summary',NULL,4096,NULL,'This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23740,'NCBI Gene PubMed Count',NULL,4096,NULL,NULL,NULL,11,NULL,NULL,NULL),(23741,'NCBI Gene Summary',NULL,4097,NULL,'This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(23742,'NCBI Gene PubMed Count',NULL,4097,NULL,NULL,NULL,7,NULL,NULL,NULL),(23743,'NCBI Gene PubMed Count',NULL,4098,NULL,NULL,NULL,18,NULL,NULL,NULL),(23744,'NCBI Gene PubMed Count',NULL,4099,NULL,NULL,NULL,16,NULL,NULL,NULL),(23745,'NCBI Gene Summary',NULL,4100,NULL,'The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23746,'NCBI Gene PubMed Count',NULL,4100,NULL,NULL,NULL,43,NULL,NULL,NULL),(23747,'NCBI Gene Summary',NULL,4101,NULL,'The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23748,'NCBI Gene PubMed Count',NULL,4101,NULL,NULL,NULL,32,NULL,NULL,NULL),(23749,'NCBI Gene Summary',NULL,4102,NULL,'This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(23750,'NCBI Gene PubMed Count',NULL,4102,NULL,NULL,NULL,47,NULL,NULL,NULL),(23751,'NCBI Gene Summary',NULL,4105,NULL,'This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(23752,'NCBI Gene PubMed Count',NULL,4105,NULL,NULL,NULL,16,NULL,NULL,NULL),(23753,'NCBI Gene Summary',NULL,4106,NULL,'This locus represents naturally occurring read-through transcription between the neighboring TNFAIP8L2 (tumor necrosis factor, alpha-induced protein 8-like 2) and SCNM1 (sodium channel modifier 1) genes on chromosome 1. The protein-coding read-through transcript variant encodes a protein that shares sequence identity with the downstream gene product but its N-terminal region is shorter due to alternate exon use relative to the downstream gene. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(23754,'NCBI Gene PubMed Count',NULL,4106,NULL,NULL,NULL,1,NULL,NULL,NULL),(23755,'NCBI Gene Summary',NULL,4107,NULL,'Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(23756,'NCBI Gene PubMed Count',NULL,4107,NULL,NULL,NULL,171,NULL,NULL,NULL),(23757,'NCBI Gene Summary',NULL,4108,NULL,'The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(23758,'NCBI Gene PubMed Count',NULL,4108,NULL,NULL,NULL,244,NULL,NULL,NULL),(23759,'NCBI Gene Summary',NULL,4109,NULL,'Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(23760,'NCBI Gene PubMed Count',NULL,4109,NULL,NULL,NULL,102,NULL,NULL,NULL),(23761,'NCBI Gene Summary',NULL,4110,NULL,'Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(23762,'NCBI Gene PubMed Count',NULL,4110,NULL,NULL,NULL,98,NULL,NULL,NULL),(23763,'NCBI Gene Summary',NULL,4111,NULL,'This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(23764,'NCBI Gene PubMed Count',NULL,4111,NULL,NULL,NULL,16,NULL,NULL,NULL),(23765,'NCBI Gene PubMed Count',NULL,4112,NULL,NULL,NULL,29,NULL,NULL,NULL),(23766,'NCBI Gene PubMed Count',NULL,4113,NULL,NULL,NULL,6,NULL,NULL,NULL),(23767,'NCBI Gene Summary',NULL,4114,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. This gene lies adjacent to and downstream of the gonadotropin-releasing hormone precursor gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23768,'NCBI Gene PubMed Count',NULL,4114,NULL,NULL,NULL,14,NULL,NULL,NULL),(23769,'NCBI Gene PubMed Count',NULL,4115,NULL,NULL,NULL,14,NULL,NULL,NULL),(23770,'NCBI Gene Summary',NULL,4116,NULL,'The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(23771,'NCBI Gene PubMed Count',NULL,4116,NULL,NULL,NULL,87,NULL,NULL,NULL),(23772,'NCBI Gene Summary',NULL,4117,NULL,'SLC25A34 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23773,'NCBI Gene PubMed Count',NULL,4117,NULL,NULL,NULL,6,NULL,NULL,NULL),(23774,'NCBI Gene PubMed Count',NULL,4118,NULL,NULL,NULL,20,NULL,NULL,NULL),(23775,'NCBI Gene Summary',NULL,4119,NULL,'Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3\' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23776,'NCBI Gene PubMed Count',NULL,4119,NULL,NULL,NULL,268,NULL,NULL,NULL),(23777,'NCBI Gene Summary',NULL,4120,NULL,'This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(23778,'NCBI Gene PubMed Count',NULL,4120,NULL,NULL,NULL,48,NULL,NULL,NULL),(23779,'NCBI Gene Summary',NULL,4121,NULL,'SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23780,'NCBI Gene PubMed Count',NULL,4121,NULL,NULL,NULL,10,NULL,NULL,NULL),(23781,'NCBI Gene PubMed Count',NULL,4122,NULL,NULL,NULL,7,NULL,NULL,NULL),(23782,'NCBI Gene PubMed Count',NULL,4123,NULL,NULL,NULL,37,NULL,NULL,NULL),(23783,'NCBI Gene PubMed Count',NULL,4124,NULL,NULL,NULL,25,NULL,NULL,NULL),(23784,'NCBI Gene Summary',NULL,4125,NULL,'Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23785,'NCBI Gene PubMed Count',NULL,4125,NULL,NULL,NULL,15,NULL,NULL,NULL),(23786,'NCBI Gene Summary',NULL,4126,NULL,'The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(23787,'NCBI Gene PubMed Count',NULL,4126,NULL,NULL,NULL,13,NULL,NULL,NULL),(23788,'NCBI Gene Summary',NULL,4127,NULL,'This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(23789,'NCBI Gene PubMed Count',NULL,4127,NULL,NULL,NULL,18,NULL,NULL,NULL),(23790,'NCBI Gene PubMed Count',NULL,4128,NULL,NULL,NULL,7,NULL,NULL,NULL),(23791,'NCBI Gene PubMed Count',NULL,4129,NULL,NULL,NULL,45,NULL,NULL,NULL),(23792,'NCBI Gene PubMed Count',NULL,4130,NULL,NULL,NULL,7,NULL,NULL,NULL),(23793,'NCBI Gene Summary',NULL,4131,NULL,'This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(23794,'NCBI Gene PubMed Count',NULL,4131,NULL,NULL,NULL,10,NULL,NULL,NULL),(23795,'NCBI Gene Summary',NULL,4132,NULL,'This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(23796,'NCBI Gene PubMed Count',NULL,4132,NULL,NULL,NULL,14,NULL,NULL,NULL),(23797,'NCBI Gene Summary',NULL,4133,NULL,'This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017]',NULL,NULL,NULL,NULL,NULL),(23798,'NCBI Gene PubMed Count',NULL,4133,NULL,NULL,NULL,20,NULL,NULL,NULL),(23799,'NCBI Gene Summary',NULL,4134,NULL,'This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(23800,'NCBI Gene PubMed Count',NULL,4134,NULL,NULL,NULL,38,NULL,NULL,NULL),(23801,'NCBI Gene PubMed Count',NULL,4135,NULL,NULL,NULL,36,NULL,NULL,NULL),(23802,'NCBI Gene Summary',NULL,4136,NULL,'This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(23803,'NCBI Gene PubMed Count',NULL,4136,NULL,NULL,NULL,30,NULL,NULL,NULL),(23804,'NCBI Gene Summary',NULL,4137,NULL,'This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(23805,'NCBI Gene PubMed Count',NULL,4137,NULL,NULL,NULL,139,NULL,NULL,NULL),(23806,'NCBI Gene Summary',NULL,4138,NULL,'This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(23807,'NCBI Gene PubMed Count',NULL,4138,NULL,NULL,NULL,49,NULL,NULL,NULL),(23808,'NCBI Gene PubMed Count',NULL,4139,NULL,NULL,NULL,5,NULL,NULL,NULL),(23809,'NCBI Gene PubMed Count',NULL,4140,NULL,NULL,NULL,22,NULL,NULL,NULL),(23810,'NCBI Gene Summary',NULL,4141,NULL,'This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(23811,'NCBI Gene PubMed Count',NULL,4141,NULL,NULL,NULL,161,NULL,NULL,NULL),(23812,'NCBI Gene Summary',NULL,4142,NULL,'This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(23813,'NCBI Gene PubMed Count',NULL,4142,NULL,NULL,NULL,118,NULL,NULL,NULL),(23814,'NCBI Gene PubMed Count',NULL,4143,NULL,NULL,NULL,13,NULL,NULL,NULL),(23815,'NCBI Gene Summary',NULL,4144,NULL,'The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23816,'NCBI Gene PubMed Count',NULL,4144,NULL,NULL,NULL,39,NULL,NULL,NULL),(23817,'NCBI Gene Summary',NULL,4145,NULL,'This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(23818,'NCBI Gene PubMed Count',NULL,4145,NULL,NULL,NULL,53,NULL,NULL,NULL),(23819,'NCBI Gene Summary',NULL,4146,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5\' UTR; both transcripts encode the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23820,'NCBI Gene PubMed Count',NULL,4146,NULL,NULL,NULL,12,NULL,NULL,NULL),(23821,'NCBI Gene Summary',NULL,4147,NULL,'This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(23822,'NCBI Gene PubMed Count',NULL,4147,NULL,NULL,NULL,13,NULL,NULL,NULL),(23823,'NCBI Gene Summary',NULL,4148,NULL,'This gene encodes a protein that contains a RUN (RPIP8, UNC-14 and NESCA) domain and a coiled coil domain. The encoded protein may negatively regulate p53 transcriptional activity. This gene is a potential candidate gene for predisposition to glioma in humans. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(23824,'NCBI Gene PubMed Count',NULL,4148,NULL,NULL,NULL,8,NULL,NULL,NULL),(23825,'NCBI Gene Summary',NULL,4149,NULL,'This gene encodes a cysteine-rich protein that contains a putative zinc-RING and/or ribbon domain. The encoded protein is related to Run domain Beclin-1-interacting and cysteine-rich domain-containing protein, which plays a role in endocytic trafficking and autophagy. In cervical cancer cell lines, this gene is expressed at low levels and may function as a tumor suppressor. Promoter hypermethylation of this gene is observed in cervical cancer cell lines and tissue derived from human patients. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(23826,'NCBI Gene PubMed Count',NULL,4149,NULL,NULL,NULL,18,NULL,NULL,NULL),(23827,'NCBI Gene Summary',NULL,4150,NULL,'This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(23828,'NCBI Gene PubMed Count',NULL,4150,NULL,NULL,NULL,97,NULL,NULL,NULL),(23829,'NCBI Gene PubMed Count',NULL,4151,NULL,NULL,NULL,10,NULL,NULL,NULL),(23830,'NCBI Gene PubMed Count',NULL,4152,NULL,NULL,NULL,25,NULL,NULL,NULL),(23831,'NCBI Gene Summary',NULL,4153,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may have a tumor suppressor function. Chromosomal rearrangements and altered expression of this gene have been implicated in breast cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23832,'NCBI Gene PubMed Count',NULL,4153,NULL,NULL,NULL,73,NULL,NULL,NULL),(23833,'NCBI Gene Summary',NULL,4154,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23834,'NCBI Gene PubMed Count',NULL,4154,NULL,NULL,NULL,22,NULL,NULL,NULL),(23835,'NCBI Gene Summary',NULL,4155,NULL,'This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(23836,'NCBI Gene PubMed Count',NULL,4155,NULL,NULL,NULL,11,NULL,NULL,NULL),(23837,'NCBI Gene PubMed Count',NULL,4156,NULL,NULL,NULL,4,NULL,NULL,NULL),(23838,'NCBI Gene PubMed Count',NULL,4157,NULL,NULL,NULL,2,NULL,NULL,NULL),(23839,'NCBI Gene PubMed Count',NULL,4158,NULL,NULL,NULL,5,NULL,NULL,NULL),(23840,'NCBI Gene Summary',NULL,4159,NULL,'The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(23841,'NCBI Gene PubMed Count',NULL,4159,NULL,NULL,NULL,45,NULL,NULL,NULL),(23842,'NCBI Gene Summary',NULL,4160,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23843,'NCBI Gene PubMed Count',NULL,4160,NULL,NULL,NULL,75,NULL,NULL,NULL),(23844,'NCBI Gene PubMed Count',NULL,4161,NULL,NULL,NULL,7,NULL,NULL,NULL),(23845,'NCBI Gene Summary',NULL,4162,NULL,'This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(23846,'NCBI Gene PubMed Count',NULL,4162,NULL,NULL,NULL,19,NULL,NULL,NULL),(23847,'NCBI Gene PubMed Count',NULL,4163,NULL,NULL,NULL,9,NULL,NULL,NULL),(23848,'NCBI Gene Summary',NULL,4164,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23849,'NCBI Gene PubMed Count',NULL,4164,NULL,NULL,NULL,107,NULL,NULL,NULL),(23850,'NCBI Gene PubMed Count',NULL,4165,NULL,NULL,NULL,2,NULL,NULL,NULL),(23851,'NCBI Gene Summary',NULL,4166,NULL,'This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(23852,'NCBI Gene PubMed Count',NULL,4166,NULL,NULL,NULL,10,NULL,NULL,NULL),(23853,'NCBI Gene Summary',NULL,4167,NULL,'The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(23854,'NCBI Gene PubMed Count',NULL,4167,NULL,NULL,NULL,11,NULL,NULL,NULL),(23855,'NCBI Gene PubMed Count',NULL,4168,NULL,NULL,NULL,0,NULL,NULL,NULL),(23856,'NCBI Gene Summary',NULL,4169,NULL,'The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(23857,'NCBI Gene PubMed Count',NULL,4169,NULL,NULL,NULL,28,NULL,NULL,NULL),(23858,'NCBI Gene PubMed Count',NULL,4170,NULL,NULL,NULL,8,NULL,NULL,NULL),(23859,'NCBI Gene Summary',NULL,4171,NULL,'This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(23860,'NCBI Gene PubMed Count',NULL,4171,NULL,NULL,NULL,7,NULL,NULL,NULL),(23861,'NCBI Gene Summary',NULL,4172,NULL,'This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23862,'NCBI Gene PubMed Count',NULL,4172,NULL,NULL,NULL,32,NULL,NULL,NULL),(23863,'NCBI Gene Summary',NULL,4173,NULL,'The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23864,'NCBI Gene PubMed Count',NULL,4173,NULL,NULL,NULL,14,NULL,NULL,NULL),(23865,'NCBI Gene Summary',NULL,4174,NULL,'This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(23866,'NCBI Gene PubMed Count',NULL,4174,NULL,NULL,NULL,13,NULL,NULL,NULL),(23867,'NCBI Gene Summary',NULL,4175,NULL,'Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(23868,'NCBI Gene PubMed Count',NULL,4175,NULL,NULL,NULL,11,NULL,NULL,NULL),(23869,'NCBI Gene PubMed Count',NULL,4176,NULL,NULL,NULL,6,NULL,NULL,NULL),(23870,'NCBI Gene Summary',NULL,4177,NULL,'The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23871,'NCBI Gene PubMed Count',NULL,4177,NULL,NULL,NULL,39,NULL,NULL,NULL),(23872,'NCBI Gene Summary',NULL,4178,NULL,'This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(23873,'NCBI Gene PubMed Count',NULL,4178,NULL,NULL,NULL,35,NULL,NULL,NULL),(23874,'NCBI Gene Summary',NULL,4179,NULL,'This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23875,'NCBI Gene PubMed Count',NULL,4179,NULL,NULL,NULL,18,NULL,NULL,NULL),(23876,'NCBI Gene PubMed Count',NULL,4180,NULL,NULL,NULL,6,NULL,NULL,NULL),(23877,'NCBI Gene Summary',NULL,4181,NULL,'The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(23878,'NCBI Gene PubMed Count',NULL,4181,NULL,NULL,NULL,15,NULL,NULL,NULL),(23879,'NCBI Gene PubMed Count',NULL,4182,NULL,NULL,NULL,32,NULL,NULL,NULL),(23880,'NCBI Gene Summary',NULL,4183,NULL,'This gene belongs to a class of genes that are activated in tumors. These genes are expressed in tumors of different histologic types but not in normal tissues, except for spermatogenic cells and, for some, placenta. The proteins encoded by these genes appear to be strictly tumor specific, and hence may be excellent sources of antigens for cancer immunotherapy. This gene is expressed in sarcomas. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23881,'NCBI Gene PubMed Count',NULL,4183,NULL,NULL,NULL,6,NULL,NULL,NULL),(23882,'NCBI Gene Summary',NULL,4184,NULL,'This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23883,'NCBI Gene PubMed Count',NULL,4184,NULL,NULL,NULL,56,NULL,NULL,NULL),(23884,'NCBI Gene PubMed Count',NULL,4185,NULL,NULL,NULL,10,NULL,NULL,NULL),(23885,'NCBI Gene PubMed Count',NULL,4186,NULL,NULL,NULL,12,NULL,NULL,NULL),(23886,'NCBI Gene PubMed Count',NULL,4187,NULL,NULL,NULL,4,NULL,NULL,NULL),(23887,'NCBI Gene Summary',NULL,4188,NULL,'SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(23888,'NCBI Gene PubMed Count',NULL,4188,NULL,NULL,NULL,43,NULL,NULL,NULL),(23889,'NCBI Gene Summary',NULL,4189,NULL,'The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B\') have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23890,'NCBI Gene PubMed Count',NULL,4189,NULL,NULL,NULL,78,NULL,NULL,NULL),(23891,'NCBI Gene Summary',NULL,4190,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23892,'NCBI Gene PubMed Count',NULL,4190,NULL,NULL,NULL,21,NULL,NULL,NULL),(23893,'NCBI Gene Summary',NULL,4191,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23894,'NCBI Gene PubMed Count',NULL,4191,NULL,NULL,NULL,10,NULL,NULL,NULL),(23895,'NCBI Gene PubMed Count',NULL,4192,NULL,NULL,NULL,10,NULL,NULL,NULL),(23896,'NCBI Gene Summary',NULL,4193,NULL,'This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(23897,'NCBI Gene PubMed Count',NULL,4193,NULL,NULL,NULL,13,NULL,NULL,NULL),(23898,'NCBI Gene Summary',NULL,4194,NULL,'This gene encodes a protein that functions in the assembly of the mitochondrial ribosome by adding a pseudouridine group to 16S rRNA. Loss of this gene results in causes defects in mitochondrial protein production. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(23899,'NCBI Gene PubMed Count',NULL,4194,NULL,NULL,NULL,8,NULL,NULL,NULL),(23900,'NCBI Gene PubMed Count',NULL,4195,NULL,NULL,NULL,12,NULL,NULL,NULL),(23901,'NCBI Gene Summary',NULL,4196,NULL,'This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(23902,'NCBI Gene PubMed Count',NULL,4196,NULL,NULL,NULL,37,NULL,NULL,NULL),(23903,'NCBI Gene Summary',NULL,4197,NULL,'Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23904,'NCBI Gene PubMed Count',NULL,4197,NULL,NULL,NULL,80,NULL,NULL,NULL),(23905,'NCBI Gene Summary',NULL,4198,NULL,'This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(23906,'NCBI Gene PubMed Count',NULL,4198,NULL,NULL,NULL,16,NULL,NULL,NULL),(23907,'NCBI Gene Summary',NULL,4199,NULL,'The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23908,'NCBI Gene PubMed Count',NULL,4199,NULL,NULL,NULL,28,NULL,NULL,NULL),(23909,'NCBI Gene Summary',NULL,4200,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly. Chromosomal rearrangements and altered expression of this gene have been implicated in several neurological, neoplastic, and other types of diseases, including Alzheimer\'s disease, Down\'s syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23910,'NCBI Gene PubMed Count',NULL,4200,NULL,NULL,NULL,371,NULL,NULL,NULL),(23911,'NCBI Gene Summary',NULL,4201,NULL,'The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23912,'NCBI Gene PubMed Count',NULL,4201,NULL,NULL,NULL,24,NULL,NULL,NULL),(23913,'NCBI Gene Summary',NULL,4202,NULL,'Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23914,'NCBI Gene PubMed Count',NULL,4202,NULL,NULL,NULL,11,NULL,NULL,NULL),(23915,'NCBI Gene Summary',NULL,4203,NULL,'This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial respiration from ATP synthesis by dissipating the transmembrane proton gradient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(23916,'NCBI Gene PubMed Count',NULL,4203,NULL,NULL,NULL,9,NULL,NULL,NULL),(23917,'NCBI Gene Summary',NULL,4204,NULL,'This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23918,'NCBI Gene PubMed Count',NULL,4204,NULL,NULL,NULL,23,NULL,NULL,NULL),(23919,'NCBI Gene PubMed Count',NULL,4205,NULL,NULL,NULL,8,NULL,NULL,NULL),(23920,'NCBI Gene Summary',NULL,4206,NULL,'This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23921,'NCBI Gene PubMed Count',NULL,4206,NULL,NULL,NULL,12,NULL,NULL,NULL),(23922,'NCBI Gene Summary',NULL,4207,NULL,'This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23923,'NCBI Gene PubMed Count',NULL,4207,NULL,NULL,NULL,4,NULL,NULL,NULL),(23924,'NCBI Gene Summary',NULL,4208,NULL,'This gene encodes a member of the solute linked carrier 26 family of anion exchangers. Members of this family of proteins are essential for numerous cellular functions including homeostasis and intracellular electrolyte balance. The encoded protein is a sodium independent sulfate transporter that is sensitive to the anion exchanger inhibitor 4,4\'-diisothiocyanostilbene-2,2\'-disulfonic acid. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(23925,'NCBI Gene PubMed Count',NULL,4208,NULL,NULL,NULL,12,NULL,NULL,NULL),(23926,'NCBI Gene Summary',NULL,4209,NULL,'This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23927,'NCBI Gene PubMed Count',NULL,4209,NULL,NULL,NULL,14,NULL,NULL,NULL),(23928,'NCBI Gene Summary',NULL,4210,NULL,'The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(23929,'NCBI Gene PubMed Count',NULL,4210,NULL,NULL,NULL,19,NULL,NULL,NULL),(23930,'NCBI Gene PubMed Count',NULL,4211,NULL,NULL,NULL,24,NULL,NULL,NULL),(23931,'NCBI Gene Summary',NULL,4212,NULL,'Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(23932,'NCBI Gene PubMed Count',NULL,4212,NULL,NULL,NULL,16,NULL,NULL,NULL),(23933,'NCBI Gene PubMed Count',NULL,4213,NULL,NULL,NULL,10,NULL,NULL,NULL),(23934,'NCBI Gene Summary',NULL,4214,NULL,'S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(23935,'NCBI Gene PubMed Count',NULL,4214,NULL,NULL,NULL,65,NULL,NULL,NULL),(23936,'NCBI Gene PubMed Count',NULL,4215,NULL,NULL,NULL,20,NULL,NULL,NULL),(23937,'NCBI Gene Summary',NULL,4216,NULL,'The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(23938,'NCBI Gene PubMed Count',NULL,4216,NULL,NULL,NULL,24,NULL,NULL,NULL),(23939,'NCBI Gene Summary',NULL,4217,NULL,'This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(23940,'NCBI Gene PubMed Count',NULL,4217,NULL,NULL,NULL,59,NULL,NULL,NULL),(23941,'NCBI Gene Summary',NULL,4218,NULL,'This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(23942,'NCBI Gene PubMed Count',NULL,4218,NULL,NULL,NULL,44,NULL,NULL,NULL),(23943,'NCBI Gene Summary',NULL,4219,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(23944,'NCBI Gene PubMed Count',NULL,4219,NULL,NULL,NULL,17,NULL,NULL,NULL),(23945,'NCBI Gene Summary',NULL,4220,NULL,'Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. In human, TAF9 and AK6 (GeneID: 102157402) are two distinct genes that share 5\' exons. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(23946,'NCBI Gene PubMed Count',NULL,4220,NULL,NULL,NULL,55,NULL,NULL,NULL),(23947,'NCBI Gene PubMed Count',NULL,4221,NULL,NULL,NULL,9,NULL,NULL,NULL),(23948,'NCBI Gene Summary',NULL,4222,NULL,'This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(23949,'NCBI Gene PubMed Count',NULL,4222,NULL,NULL,NULL,69,NULL,NULL,NULL),(23950,'NCBI Gene Summary',NULL,4223,NULL,'This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(23951,'NCBI Gene PubMed Count',NULL,4223,NULL,NULL,NULL,39,NULL,NULL,NULL),(23952,'NCBI Gene Summary',NULL,4224,NULL,'This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23953,'NCBI Gene PubMed Count',NULL,4224,NULL,NULL,NULL,4,NULL,NULL,NULL),(23954,'NCBI Gene Summary',NULL,4225,NULL,'The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(23955,'NCBI Gene PubMed Count',NULL,4225,NULL,NULL,NULL,21,NULL,NULL,NULL),(23956,'NCBI Gene Summary',NULL,4226,NULL,'Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23957,'NCBI Gene PubMed Count',NULL,4226,NULL,NULL,NULL,131,NULL,NULL,NULL),(23958,'NCBI Gene Summary',NULL,4227,NULL,'This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23959,'NCBI Gene PubMed Count',NULL,4227,NULL,NULL,NULL,202,NULL,NULL,NULL),(23960,'NCBI Gene Summary',NULL,4228,NULL,'This gene encodes a protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(23961,'NCBI Gene PubMed Count',NULL,4228,NULL,NULL,NULL,8,NULL,NULL,NULL),(23962,'NCBI Gene Summary',NULL,4229,NULL,'This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein involved in the transport of small molecules. This protein can function to mediate urate uptake and is a high affinity nicotinate exchanger in the kidneys and the intestine. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(23963,'NCBI Gene PubMed Count',NULL,4229,NULL,NULL,NULL,15,NULL,NULL,NULL),(23964,'NCBI Gene Summary',NULL,4230,NULL,'This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the antiproliferative effects of retinoic acid (RA). This receptor forms dimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene is expressed at significantly lower levels in non-small cell lung cancer cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(23965,'NCBI Gene PubMed Count',NULL,4230,NULL,NULL,NULL,76,NULL,NULL,NULL),(23966,'NCBI Gene PubMed Count',NULL,4231,NULL,NULL,NULL,6,NULL,NULL,NULL),(23967,'NCBI Gene Summary',NULL,4232,NULL,'This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3\',5\'-diphosphate. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(23968,'NCBI Gene PubMed Count',NULL,4232,NULL,NULL,NULL,7,NULL,NULL,NULL),(23969,'NCBI Gene Summary',NULL,4233,NULL,'This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(23970,'NCBI Gene PubMed Count',NULL,4233,NULL,NULL,NULL,10,NULL,NULL,NULL),(23971,'NCBI Gene PubMed Count',NULL,4234,NULL,NULL,NULL,4,NULL,NULL,NULL),(23972,'NCBI Gene PubMed Count',NULL,4235,NULL,NULL,NULL,22,NULL,NULL,NULL),(23973,'NCBI Gene Summary',NULL,4236,NULL,'This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(23974,'NCBI Gene PubMed Count',NULL,4236,NULL,NULL,NULL,16,NULL,NULL,NULL),(23975,'NCBI Gene PubMed Count',NULL,4237,NULL,NULL,NULL,10,NULL,NULL,NULL),(23976,'NCBI Gene Summary',NULL,4238,NULL,'The protein encoded by this gene is a sodium-coupled citrate transporter that is regulated by the chaperone activity of cyclophilin b. The encoded protein may play a role in the formation of kidney stones. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(23977,'NCBI Gene PubMed Count',NULL,4238,NULL,NULL,NULL,22,NULL,NULL,NULL),(23978,'NCBI Gene PubMed Count',NULL,4239,NULL,NULL,NULL,5,NULL,NULL,NULL),(23979,'NCBI Gene Summary',NULL,4240,NULL,'The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(23980,'NCBI Gene PubMed Count',NULL,4240,NULL,NULL,NULL,15,NULL,NULL,NULL),(23981,'NCBI Gene PubMed Count',NULL,4241,NULL,NULL,NULL,6,NULL,NULL,NULL),(23982,'NCBI Gene Summary',NULL,4242,NULL,'Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23983,'NCBI Gene PubMed Count',NULL,4242,NULL,NULL,NULL,18,NULL,NULL,NULL),(23984,'NCBI Gene PubMed Count',NULL,4243,NULL,NULL,NULL,3,NULL,NULL,NULL),(23985,'NCBI Gene PubMed Count',NULL,4244,NULL,NULL,NULL,25,NULL,NULL,NULL),(23986,'NCBI Gene Summary',NULL,4245,NULL,'Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(23987,'NCBI Gene PubMed Count',NULL,4245,NULL,NULL,NULL,30,NULL,NULL,NULL),(23988,'NCBI Gene Summary',NULL,4246,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(23989,'NCBI Gene PubMed Count',NULL,4246,NULL,NULL,NULL,12,NULL,NULL,NULL),(23990,'NCBI Gene PubMed Count',NULL,4247,NULL,NULL,NULL,6,NULL,NULL,NULL),(23991,'NCBI Gene Summary',NULL,4248,NULL,'This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(23992,'NCBI Gene PubMed Count',NULL,4248,NULL,NULL,NULL,42,NULL,NULL,NULL),(23993,'NCBI Gene PubMed Count',NULL,4249,NULL,NULL,NULL,86,NULL,NULL,NULL),(23994,'NCBI Gene Summary',NULL,4250,NULL,'Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(23995,'NCBI Gene PubMed Count',NULL,4250,NULL,NULL,NULL,634,NULL,NULL,NULL),(23996,'NCBI Gene PubMed Count',NULL,4251,NULL,NULL,NULL,10,NULL,NULL,NULL),(23997,'NCBI Gene Summary',NULL,4252,NULL,'This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. The encoded protein is a receptor for sphingosine 1-phosphate, which participates in cell proliferation, survival, and transcriptional activation. Defects in this gene have been associated with congenital profound deafness. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(23998,'NCBI Gene PubMed Count',NULL,4252,NULL,NULL,NULL,71,NULL,NULL,NULL),(23999,'NCBI Gene Summary',NULL,4253,NULL,'This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms\' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(24000,'NCBI Gene PubMed Count',NULL,4253,NULL,NULL,NULL,30,NULL,NULL,NULL),(24001,'NCBI Gene Summary',NULL,4254,NULL,'This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24002,'NCBI Gene PubMed Count',NULL,4254,NULL,NULL,NULL,26,NULL,NULL,NULL),(24003,'NCBI Gene PubMed Count',NULL,4255,NULL,NULL,NULL,15,NULL,NULL,NULL),(24004,'NCBI Gene Summary',NULL,4256,NULL,'Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24005,'NCBI Gene PubMed Count',NULL,4256,NULL,NULL,NULL,34,NULL,NULL,NULL),(24006,'NCBI Gene PubMed Count',NULL,4257,NULL,NULL,NULL,1,NULL,NULL,NULL),(24007,'NCBI Gene PubMed Count',NULL,4258,NULL,NULL,NULL,7,NULL,NULL,NULL),(24008,'NCBI Gene Summary',NULL,4259,NULL,'Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24009,'NCBI Gene PubMed Count',NULL,4259,NULL,NULL,NULL,9,NULL,NULL,NULL),(24010,'NCBI Gene PubMed Count',NULL,4260,NULL,NULL,NULL,16,NULL,NULL,NULL),(24011,'NCBI Gene Summary',NULL,4261,NULL,'This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(24012,'NCBI Gene PubMed Count',NULL,4261,NULL,NULL,NULL,24,NULL,NULL,NULL),(24013,'NCBI Gene PubMed Count',NULL,4262,NULL,NULL,NULL,8,NULL,NULL,NULL),(24014,'NCBI Gene Summary',NULL,4263,NULL,'This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(24015,'NCBI Gene PubMed Count',NULL,4263,NULL,NULL,NULL,7,NULL,NULL,NULL),(24016,'NCBI Gene Summary',NULL,4264,NULL,'The protein encoded by this gene is a sperm surface protein that may be involved in adhesion to the egg prior to fertilization. While the encoded protein has significant similarity to lysozyme at the amino acid level, it has no detectable bacteriocidal activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(24017,'NCBI Gene PubMed Count',NULL,4264,NULL,NULL,NULL,12,NULL,NULL,NULL),(24018,'NCBI Gene PubMed Count',NULL,4265,NULL,NULL,NULL,25,NULL,NULL,NULL),(24019,'NCBI Gene Summary',NULL,4266,NULL,'This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer\'s disease and Crohn\'s disease. This protein may also be a potential biomarker for certain tumors. Alternate splicing results in multiple transcript variants that encode the same protein. A pseudogene of this gene is found on chromosome 11. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(24020,'NCBI Gene PubMed Count',NULL,4266,NULL,NULL,NULL,243,NULL,NULL,NULL),(24021,'NCBI Gene Summary',NULL,4267,NULL,'The protein encoded by this gene, along with its paralog (scaffold attachment factor B1), is a repressor of estrogen receptor alpha. The encoded protein binds scaffold/matrix attachment region (S/MAR) DNA and is involved in cell cycle regulation, apoptosis, differentiation, the stress response, and regulation of immune genes. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(24022,'NCBI Gene PubMed Count',NULL,4267,NULL,NULL,NULL,21,NULL,NULL,NULL),(24023,'NCBI Gene Summary',NULL,4268,NULL,'SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24024,'NCBI Gene PubMed Count',NULL,4268,NULL,NULL,NULL,5,NULL,NULL,NULL),(24025,'NCBI Gene Summary',NULL,4269,NULL,'The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(24026,'NCBI Gene PubMed Count',NULL,4269,NULL,NULL,NULL,12,NULL,NULL,NULL),(24027,'NCBI Gene Summary',NULL,4270,NULL,'RPP21 is a protein subunit of nuclear ribonuclease P, which processes the 5-prime leader sequence of precursor tRNAs (Jarrous et al., 2001 [PubMed 11497433]).[supplied by OMIM, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(24028,'NCBI Gene PubMed Count',NULL,4270,NULL,NULL,NULL,15,NULL,NULL,NULL),(24029,'NCBI Gene Summary',NULL,4271,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24030,'NCBI Gene PubMed Count',NULL,4271,NULL,NULL,NULL,32,NULL,NULL,NULL),(24031,'NCBI Gene Summary',NULL,4272,NULL,'This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tumorigenesis, this gene may serve as a target for Ras-induced tumor treatments. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(24032,'NCBI Gene PubMed Count',NULL,4272,NULL,NULL,NULL,13,NULL,NULL,NULL),(24033,'NCBI Gene PubMed Count',NULL,4273,NULL,NULL,NULL,8,NULL,NULL,NULL),(24034,'NCBI Gene Summary',NULL,4274,NULL,'This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(24035,'NCBI Gene PubMed Count',NULL,4274,NULL,NULL,NULL,174,NULL,NULL,NULL),(24036,'NCBI Gene Summary',NULL,4275,NULL,'This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(24037,'NCBI Gene PubMed Count',NULL,4275,NULL,NULL,NULL,33,NULL,NULL,NULL),(24038,'NCBI Gene PubMed Count',NULL,4276,NULL,NULL,NULL,26,NULL,NULL,NULL),(24039,'NCBI Gene PubMed Count',NULL,4277,NULL,NULL,NULL,25,NULL,NULL,NULL),(24040,'NCBI Gene Summary',NULL,4278,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24041,'NCBI Gene PubMed Count',NULL,4278,NULL,NULL,NULL,31,NULL,NULL,NULL),(24042,'NCBI Gene Summary',NULL,4279,NULL,'This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(24043,'NCBI Gene PubMed Count',NULL,4279,NULL,NULL,NULL,30,NULL,NULL,NULL),(24044,'NCBI Gene PubMed Count',NULL,4280,NULL,NULL,NULL,42,NULL,NULL,NULL),(24045,'NCBI Gene Summary',NULL,4281,NULL,'This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(24046,'NCBI Gene PubMed Count',NULL,4281,NULL,NULL,NULL,7,NULL,NULL,NULL),(24047,'NCBI Gene Summary',NULL,4282,NULL,'The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24048,'NCBI Gene PubMed Count',NULL,4282,NULL,NULL,NULL,17,NULL,NULL,NULL),(24049,'NCBI Gene Summary',NULL,4283,NULL,'This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(24050,'NCBI Gene PubMed Count',NULL,4283,NULL,NULL,NULL,28,NULL,NULL,NULL),(24051,'NCBI Gene PubMed Count',NULL,4284,NULL,NULL,NULL,29,NULL,NULL,NULL),(24052,'NCBI Gene PubMed Count',NULL,4285,NULL,NULL,NULL,38,NULL,NULL,NULL),(24053,'NCBI Gene PubMed Count',NULL,4286,NULL,NULL,NULL,50,NULL,NULL,NULL),(24054,'NCBI Gene Summary',NULL,4287,NULL,'This gene product is a member of the serine-arginine (SR) family of proteins, which are involved in constitutive and regulated RNA splicing. Members of this family are characterized by N-terminal RNP1 and RNP2 motifs, which are required for binding to RNA, and multiple C-terminal SR/RS repeats, which are important in mediating association with other cellular proteins. This protein interacts with the oncoprotein TLS, and abrogates the influence of TLS on adenovirus E1A pre-mRNA splicing. This gene has pseudogenes on chromosomes 4, 9, 14, 18, and 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(24055,'NCBI Gene PubMed Count',NULL,4287,NULL,NULL,NULL,36,NULL,NULL,NULL),(24056,'NCBI Gene Summary',NULL,4288,NULL,'This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, structure and immunolocalization data suggest that it may play a role in pre-mRNA processing. Alternative splicing results in multiple transcript variants encoding different proteins. In addition, a pseudogene of this gene has been found on chromosome 12.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(24057,'NCBI Gene PubMed Count',NULL,4288,NULL,NULL,NULL,28,NULL,NULL,NULL),(24058,'NCBI Gene Summary',NULL,4289,NULL,'This gene encodes a member of a family of cysteine- and proline-rich proteins. The encoded protein is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. Activity of this protein impairs the formation of active GTP-RAS. Nucleotide variation in this gene has been associated with hypogonadotropic hypogonadism 17 with or without anosmia. Alternative splicing results in a multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(24059,'NCBI Gene PubMed Count',NULL,4289,NULL,NULL,NULL,59,NULL,NULL,NULL),(24060,'NCBI Gene Summary',NULL,4290,NULL,'The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(24061,'NCBI Gene PubMed Count',NULL,4290,NULL,NULL,NULL,23,NULL,NULL,NULL),(24062,'NCBI Gene Summary',NULL,4291,NULL,'Both long non-coding and protein-coding RNAs are transcribed from this gene, and they represent alternatively spliced transcript variants. This gene was initially defined as a non-coding RNA, which is a coactivator for several nuclear receptors (NRs) and is associated with breast cancer. It has now been found that this gene is involved in the regulation of many NR and non-NR activities, including metabolism, adipogenesis and chromatin organization. The long non-coding RNA transcripts interact with a variety of proteins, including the protein encoded by this gene. The encoded protein acts as a transcriptional repressor by binding to the non-coding RNA. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(24063,'NCBI Gene PubMed Count',NULL,4291,NULL,NULL,NULL,68,NULL,NULL,NULL),(24064,'NCBI Gene Summary',NULL,4292,NULL,'This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(24065,'NCBI Gene PubMed Count',NULL,4292,NULL,NULL,NULL,175,NULL,NULL,NULL),(24066,'NCBI Gene Summary',NULL,4293,NULL,'This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Three splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(24067,'NCBI Gene PubMed Count',NULL,4293,NULL,NULL,NULL,227,NULL,NULL,NULL),(24068,'NCBI Gene PubMed Count',NULL,4294,NULL,NULL,NULL,6,NULL,NULL,NULL),(24069,'NCBI Gene Summary',NULL,4295,NULL,'This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(24070,'NCBI Gene PubMed Count',NULL,4295,NULL,NULL,NULL,19,NULL,NULL,NULL),(24071,'NCBI Gene Summary',NULL,4296,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(24072,'NCBI Gene PubMed Count',NULL,4296,NULL,NULL,NULL,44,NULL,NULL,NULL),(24073,'NCBI Gene Summary',NULL,4297,NULL,'This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from incomplete segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2 locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2. The functionality of the protein encoded by this locus has been questioned, as several normal individuals with homozygous deletions for this locus have been identified, and the expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(24074,'NCBI Gene PubMed Count',NULL,4297,NULL,NULL,NULL,8,NULL,NULL,NULL),(24075,'NCBI Gene Summary',NULL,4298,NULL,'This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(24076,'NCBI Gene PubMed Count',NULL,4298,NULL,NULL,NULL,8,NULL,NULL,NULL),(24077,'NCBI Gene PubMed Count',NULL,4299,NULL,NULL,NULL,9,NULL,NULL,NULL),(24078,'NCBI Gene Summary',NULL,4300,NULL,'This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(24079,'NCBI Gene PubMed Count',NULL,4300,NULL,NULL,NULL,54,NULL,NULL,NULL),(24080,'NCBI Gene PubMed Count',NULL,4301,NULL,NULL,NULL,25,NULL,NULL,NULL),(24081,'NCBI Gene PubMed Count',NULL,4302,NULL,NULL,NULL,19,NULL,NULL,NULL),(24082,'NCBI Gene PubMed Count',NULL,4303,NULL,NULL,NULL,8,NULL,NULL,NULL),(24083,'NCBI Gene Summary',NULL,4304,NULL,'The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(24084,'NCBI Gene PubMed Count',NULL,4304,NULL,NULL,NULL,158,NULL,NULL,NULL),(24085,'NCBI Gene PubMed Count',NULL,4305,NULL,NULL,NULL,15,NULL,NULL,NULL),(24086,'NCBI Gene PubMed Count',NULL,4306,NULL,NULL,NULL,2,NULL,NULL,NULL),(24087,'NCBI Gene PubMed Count',NULL,4307,NULL,NULL,NULL,27,NULL,NULL,NULL),(24088,'NCBI Gene Summary',NULL,4308,NULL,'This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(24089,'NCBI Gene PubMed Count',NULL,4308,NULL,NULL,NULL,36,NULL,NULL,NULL),(24090,'NCBI Gene PubMed Count',NULL,4309,NULL,NULL,NULL,5,NULL,NULL,NULL),(24091,'NCBI Gene PubMed Count',NULL,4310,NULL,NULL,NULL,35,NULL,NULL,NULL),(24092,'NCBI Gene Summary',NULL,4311,NULL,'The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(24093,'NCBI Gene PubMed Count',NULL,4311,NULL,NULL,NULL,20,NULL,NULL,NULL),(24094,'NCBI Gene PubMed Count',NULL,4312,NULL,NULL,NULL,6,NULL,NULL,NULL),(24095,'NCBI Gene Summary',NULL,4313,NULL,'This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(24096,'NCBI Gene PubMed Count',NULL,4313,NULL,NULL,NULL,422,NULL,NULL,NULL),(24097,'NCBI Gene Summary',NULL,4314,NULL,'This gene encodes a member of the arginine/serine-rich splicing factor family. The encoded protein likely functions in mRNA processing. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(24098,'NCBI Gene PubMed Count',NULL,4314,NULL,NULL,NULL,33,NULL,NULL,NULL),(24099,'NCBI Gene Summary',NULL,4315,NULL,'The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an N-terminal RNA recognition motif (RRM) for binding RNA and a C-terminal RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(24100,'NCBI Gene PubMed Count',NULL,4315,NULL,NULL,NULL,48,NULL,NULL,NULL),(24101,'NCBI Gene Summary',NULL,4316,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24102,'NCBI Gene PubMed Count',NULL,4316,NULL,NULL,NULL,31,NULL,NULL,NULL),(24103,'NCBI Gene PubMed Count',NULL,4317,NULL,NULL,NULL,12,NULL,NULL,NULL),(24104,'NCBI Gene Summary',NULL,4318,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This gene is co-transcribed with the small nucleolar RNA genes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24105,'NCBI Gene PubMed Count',NULL,4318,NULL,NULL,NULL,26,NULL,NULL,NULL),(24106,'NCBI Gene PubMed Count',NULL,4319,NULL,NULL,NULL,8,NULL,NULL,NULL),(24107,'NCBI Gene Summary',NULL,4320,NULL,'The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24108,'NCBI Gene PubMed Count',NULL,4320,NULL,NULL,NULL,74,NULL,NULL,NULL),(24109,'NCBI Gene Summary',NULL,4321,NULL,'This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(24110,'NCBI Gene PubMed Count',NULL,4321,NULL,NULL,NULL,64,NULL,NULL,NULL),(24111,'NCBI Gene PubMed Count',NULL,4322,NULL,NULL,NULL,6,NULL,NULL,NULL),(24112,'NCBI Gene PubMed Count',NULL,4323,NULL,NULL,NULL,28,NULL,NULL,NULL),(24113,'NCBI Gene PubMed Count',NULL,4324,NULL,NULL,NULL,4,NULL,NULL,NULL),(24114,'NCBI Gene PubMed Count',NULL,4325,NULL,NULL,NULL,7,NULL,NULL,NULL),(24115,'NCBI Gene PubMed Count',NULL,4326,NULL,NULL,NULL,22,NULL,NULL,NULL),(24116,'NCBI Gene Summary',NULL,4327,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24117,'NCBI Gene PubMed Count',NULL,4327,NULL,NULL,NULL,40,NULL,NULL,NULL),(24118,'NCBI Gene PubMed Count',NULL,4328,NULL,NULL,NULL,10,NULL,NULL,NULL),(24119,'NCBI Gene Summary',NULL,4329,NULL,'This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin \'stalk\' and a bulbous \'head\' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(24120,'NCBI Gene PubMed Count',NULL,4329,NULL,NULL,NULL,11,NULL,NULL,NULL),(24121,'NCBI Gene Summary',NULL,4330,NULL,'Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24122,'NCBI Gene PubMed Count',NULL,4330,NULL,NULL,NULL,19,NULL,NULL,NULL),(24123,'NCBI Gene Summary',NULL,4331,NULL,'Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24124,'NCBI Gene PubMed Count',NULL,4331,NULL,NULL,NULL,24,NULL,NULL,NULL),(24125,'NCBI Gene Summary',NULL,4332,NULL,'This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(24126,'NCBI Gene PubMed Count',NULL,4332,NULL,NULL,NULL,104,NULL,NULL,NULL),(24127,'NCBI Gene PubMed Count',NULL,4333,NULL,NULL,NULL,3,NULL,NULL,NULL),(24128,'NCBI Gene PubMed Count',NULL,4334,NULL,NULL,NULL,6,NULL,NULL,NULL),(24129,'NCBI Gene PubMed Count',NULL,4335,NULL,NULL,NULL,7,NULL,NULL,NULL),(24130,'NCBI Gene PubMed Count',NULL,4336,NULL,NULL,NULL,7,NULL,NULL,NULL),(24131,'NCBI Gene PubMed Count',NULL,4337,NULL,NULL,NULL,44,NULL,NULL,NULL),(24132,'NCBI Gene Summary',NULL,4338,NULL,'This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(24133,'NCBI Gene PubMed Count',NULL,4338,NULL,NULL,NULL,15,NULL,NULL,NULL),(24134,'NCBI Gene Summary',NULL,4339,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(24135,'NCBI Gene PubMed Count',NULL,4339,NULL,NULL,NULL,16,NULL,NULL,NULL),(24136,'NCBI Gene Summary',NULL,4340,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24137,'NCBI Gene PubMed Count',NULL,4340,NULL,NULL,NULL,13,NULL,NULL,NULL),(24138,'NCBI Gene Summary',NULL,4341,NULL,'This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(24139,'NCBI Gene PubMed Count',NULL,4341,NULL,NULL,NULL,221,NULL,NULL,NULL),(24140,'NCBI Gene Summary',NULL,4342,NULL,'This locus represents naturally occurring read-through transcription between the neighboring putative uncharacterized protein C8orf44 (GeneID 56260) and serine/threonine-protein kinase Sgk3 (GeneID 23678) genes on chromosome 8. The read-through transcript produces a protein that shares sequence identity with the downstream gene product. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(24141,'NCBI Gene PubMed Count',NULL,4342,NULL,NULL,NULL,13,NULL,NULL,NULL),(24142,'NCBI Gene Summary',NULL,4343,NULL,'This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24143,'NCBI Gene PubMed Count',NULL,4343,NULL,NULL,NULL,33,NULL,NULL,NULL),(24144,'NCBI Gene PubMed Count',NULL,4344,NULL,NULL,NULL,31,NULL,NULL,NULL),(24145,'NCBI Gene PubMed Count',NULL,4345,NULL,NULL,NULL,8,NULL,NULL,NULL),(24146,'NCBI Gene Summary',NULL,4346,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(24147,'NCBI Gene PubMed Count',NULL,4346,NULL,NULL,NULL,29,NULL,NULL,NULL),(24148,'NCBI Gene Summary',NULL,4347,NULL,'Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(24149,'NCBI Gene PubMed Count',NULL,4347,NULL,NULL,NULL,112,NULL,NULL,NULL),(24150,'NCBI Gene Summary',NULL,4348,NULL,'This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(24151,'NCBI Gene PubMed Count',NULL,4348,NULL,NULL,NULL,88,NULL,NULL,NULL),(24152,'NCBI Gene Summary',NULL,4349,NULL,'This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3\' untranslated region of the transcript from this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24153,'NCBI Gene PubMed Count',NULL,4349,NULL,NULL,NULL,74,NULL,NULL,NULL),(24154,'NCBI Gene PubMed Count',NULL,4350,NULL,NULL,NULL,5,NULL,NULL,NULL),(24155,'NCBI Gene Summary',NULL,4351,NULL,'This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(24156,'NCBI Gene PubMed Count',NULL,4351,NULL,NULL,NULL,35,NULL,NULL,NULL),(24157,'NCBI Gene Summary',NULL,4352,NULL,'The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(24158,'NCBI Gene PubMed Count',NULL,4352,NULL,NULL,NULL,16,NULL,NULL,NULL),(24159,'NCBI Gene Summary',NULL,4353,NULL,'This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(24160,'NCBI Gene PubMed Count',NULL,4353,NULL,NULL,NULL,38,NULL,NULL,NULL),(24161,'NCBI Gene Summary',NULL,4354,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S15P family of ribosomal proteins. It is located in the cytoplasm. The protein has been shown to bind to the 5.8S rRNA in rat. The gene product of the E. coli ortholog (ribosomal protein S15) functions at early steps in ribosome assembly. This gene is co-transcribed with two U14 small nucleolar RNA genes, which are located in its third and fifth introns. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24162,'NCBI Gene PubMed Count',NULL,4354,NULL,NULL,NULL,35,NULL,NULL,NULL),(24163,'NCBI Gene Summary',NULL,4355,NULL,'PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(24164,'NCBI Gene PubMed Count',NULL,4355,NULL,NULL,NULL,15,NULL,NULL,NULL),(24165,'NCBI Gene PubMed Count',NULL,4356,NULL,NULL,NULL,4,NULL,NULL,NULL),(24166,'NCBI Gene Summary',NULL,4357,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L28E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(24167,'NCBI Gene PubMed Count',NULL,4357,NULL,NULL,NULL,31,NULL,NULL,NULL),(24168,'NCBI Gene Summary',NULL,4358,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L36E family of ribosomal proteins. It is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24169,'NCBI Gene PubMed Count',NULL,4358,NULL,NULL,NULL,28,NULL,NULL,NULL),(24170,'NCBI Gene Summary',NULL,4359,NULL,'This gene encodes a subunit of ribonuclease P and has 3\' to 5\' exoribonuclease activity. Transcripts for this gene are bicistronic and include a conserved downstream open reading frame for the hydroxyacyl-thioester dehydratase type 2 (HTD2) gene. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(24171,'NCBI Gene PubMed Count',NULL,4359,NULL,NULL,NULL,18,NULL,NULL,NULL),(24172,'NCBI Gene PubMed Count',NULL,4360,NULL,NULL,NULL,11,NULL,NULL,NULL),(24173,'NCBI Gene PubMed Count',NULL,4361,NULL,NULL,NULL,24,NULL,NULL,NULL),(24174,'NCBI Gene Summary',NULL,4362,NULL,'This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24175,'NCBI Gene PubMed Count',NULL,4362,NULL,NULL,NULL,72,NULL,NULL,NULL),(24176,'NCBI Gene Summary',NULL,4363,NULL,'This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24177,'NCBI Gene PubMed Count',NULL,4363,NULL,NULL,NULL,158,NULL,NULL,NULL),(24178,'NCBI Gene Summary',NULL,4364,NULL,'This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(24179,'NCBI Gene PubMed Count',NULL,4364,NULL,NULL,NULL,24,NULL,NULL,NULL),(24180,'NCBI Gene Summary',NULL,4365,NULL,'The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(24181,'NCBI Gene PubMed Count',NULL,4365,NULL,NULL,NULL,11,NULL,NULL,NULL),(24182,'NCBI Gene PubMed Count',NULL,4366,NULL,NULL,NULL,6,NULL,NULL,NULL),(24183,'NCBI Gene PubMed Count',NULL,4367,NULL,NULL,NULL,3,NULL,NULL,NULL),(24184,'NCBI Gene Summary',NULL,4368,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24185,'NCBI Gene PubMed Count',NULL,4368,NULL,NULL,NULL,96,NULL,NULL,NULL),(24186,'NCBI Gene Summary',NULL,4369,NULL,'The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(24187,'NCBI Gene PubMed Count',NULL,4369,NULL,NULL,NULL,40,NULL,NULL,NULL),(24188,'NCBI Gene Summary',NULL,4370,NULL,'The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, have been found for this gene.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(24189,'NCBI Gene PubMed Count',NULL,4370,NULL,NULL,NULL,54,NULL,NULL,NULL),(24190,'NCBI Gene Summary',NULL,4371,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares significant amino acid similarity with S. cerevisiae ribosomal protein S28. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24191,'NCBI Gene PubMed Count',NULL,4371,NULL,NULL,NULL,25,NULL,NULL,NULL),(24192,'NCBI Gene PubMed Count',NULL,4372,NULL,NULL,NULL,28,NULL,NULL,NULL),(24193,'NCBI Gene Summary',NULL,4373,NULL,'RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(24194,'NCBI Gene PubMed Count',NULL,4373,NULL,NULL,NULL,17,NULL,NULL,NULL),(24195,'NCBI Gene Summary',NULL,4374,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(24196,'NCBI Gene PubMed Count',NULL,4374,NULL,NULL,NULL,28,NULL,NULL,NULL),(24197,'NCBI Gene Summary',NULL,4375,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Alternative splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(24198,'NCBI Gene PubMed Count',NULL,4375,NULL,NULL,NULL,35,NULL,NULL,NULL),(24199,'NCBI Gene Summary',NULL,4376,NULL,'Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24200,'NCBI Gene PubMed Count',NULL,4376,NULL,NULL,NULL,12,NULL,NULL,NULL),(24201,'NCBI Gene Summary',NULL,4377,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37E family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C2C2-type zinc finger-like motif. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24202,'NCBI Gene PubMed Count',NULL,4377,NULL,NULL,NULL,16,NULL,NULL,NULL),(24203,'NCBI Gene Summary',NULL,4378,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L38E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the type 1 angiotensin II receptor gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24204,'NCBI Gene PubMed Count',NULL,4378,NULL,NULL,NULL,17,NULL,NULL,NULL),(24205,'NCBI Gene Summary',NULL,4379,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the S39E family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein is the smallest, and one of the most basic, proteins of the ribosome. This gene is co-transcribed with the U69 small nucleolar RNA gene, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24206,'NCBI Gene PubMed Count',NULL,4379,NULL,NULL,NULL,18,NULL,NULL,NULL),(24207,'NCBI Gene Summary',NULL,4380,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with the yeast ribosomal protein YL41, belongs to the L41E family of ribosomal proteins. It is located in the cytoplasm. The protein can interact with the beta subunit of protein kinase CKII and can stimulate the phosphorylation of DNA topoisomerase II-alpha by CKII. Two alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24208,'NCBI Gene PubMed Count',NULL,4380,NULL,NULL,NULL,21,NULL,NULL,NULL),(24209,'NCBI Gene Summary',NULL,4381,NULL,'This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(24210,'NCBI Gene PubMed Count',NULL,4381,NULL,NULL,NULL,19,NULL,NULL,NULL),(24211,'NCBI Gene PubMed Count',NULL,4382,NULL,NULL,NULL,17,NULL,NULL,NULL),(24212,'NCBI Gene PubMed Count',NULL,4383,NULL,NULL,NULL,2,NULL,NULL,NULL),(24213,'NCBI Gene Summary',NULL,4384,NULL,'This gene encodes a protein sharing high sequence similarity with ribosomal protein L39. Although the name of this gene has been referred to as \'ribosomal protein L39\' in the public databases, its official name is \'ribosomal protein L39-like\'. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24214,'NCBI Gene PubMed Count',NULL,4384,NULL,NULL,NULL,12,NULL,NULL,NULL),(24215,'NCBI Gene Summary',NULL,4385,NULL,'Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six conserved motifs involved in GTP/GDP binding, three of which are phosphate-/magnesium-binding sites (PM1-PM3) and three of which are guanine nucleotide-binding sites (G1-G3). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24216,'NCBI Gene PubMed Count',NULL,4385,NULL,NULL,NULL,23,NULL,NULL,NULL),(24217,'NCBI Gene Summary',NULL,4386,NULL,'This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(24218,'NCBI Gene PubMed Count',NULL,4386,NULL,NULL,NULL,29,NULL,NULL,NULL),(24219,'NCBI Gene Summary',NULL,4387,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting with the hepatitis C virus internal ribosome entry site (IRES). This gene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(24220,'NCBI Gene PubMed Count',NULL,4387,NULL,NULL,NULL,28,NULL,NULL,NULL),(24221,'NCBI Gene Summary',NULL,4388,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(24222,'NCBI Gene PubMed Count',NULL,4388,NULL,NULL,NULL,35,NULL,NULL,NULL),(24223,'NCBI Gene Summary',NULL,4389,NULL,'Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. Although this gene has been referred to as ribosomal protein L44 (RPL44), its official name is ribosomal protein L36a (RPL36A). This gene and the human gene officially named ribosomal protein L36a-like (RPL36AL) encode nearly identical proteins; however, they are distinct genes. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Naturally occurring read-through transcription occurs between this locus and the heterogeneous nuclear ribonucleoprotein H2 (H\') gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(24224,'NCBI Gene PubMed Count',NULL,4389,NULL,NULL,NULL,24,NULL,NULL,NULL),(24225,'NCBI Gene Summary',NULL,4390,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S11P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. In Chinese hamster ovary cells, mutations in this gene can lead to resistance to emetine, a protein synthesis inhibitor. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24226,'NCBI Gene PubMed Count',NULL,4390,NULL,NULL,NULL,49,NULL,NULL,NULL),(24227,'NCBI Gene Summary',NULL,4391,NULL,'The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(24228,'NCBI Gene PubMed Count',NULL,4391,NULL,NULL,NULL,18,NULL,NULL,NULL),(24229,'NCBI Gene Summary',NULL,4392,NULL,'This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(24230,'NCBI Gene PubMed Count',NULL,4392,NULL,NULL,NULL,20,NULL,NULL,NULL),(24231,'NCBI Gene Summary',NULL,4393,NULL,'The protein encoded by this gene is similar to  SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24232,'NCBI Gene PubMed Count',NULL,4393,NULL,NULL,NULL,7,NULL,NULL,NULL),(24233,'NCBI Gene Summary',NULL,4394,NULL,'The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(24234,'NCBI Gene PubMed Count',NULL,4394,NULL,NULL,NULL,25,NULL,NULL,NULL),(24235,'NCBI Gene PubMed Count',NULL,4395,NULL,NULL,NULL,12,NULL,NULL,NULL),(24236,'NCBI Gene Summary',NULL,4396,NULL,'The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(24237,'NCBI Gene PubMed Count',NULL,4396,NULL,NULL,NULL,22,NULL,NULL,NULL),(24238,'NCBI Gene PubMed Count',NULL,4397,NULL,NULL,NULL,7,NULL,NULL,NULL),(24239,'NCBI Gene Summary',NULL,4398,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL17 because the encoded protein shares amino acid identity with ribosomal protein L17 from Saccharomyces cerevisiae; however, its official symbol is RPL23. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24240,'NCBI Gene PubMed Count',NULL,4398,NULL,NULL,NULL,35,NULL,NULL,NULL),(24241,'NCBI Gene Summary',NULL,4399,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(24242,'NCBI Gene PubMed Count',NULL,4399,NULL,NULL,NULL,30,NULL,NULL,NULL),(24243,'NCBI Gene Summary',NULL,4400,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24244,'NCBI Gene PubMed Count',NULL,4400,NULL,NULL,NULL,19,NULL,NULL,NULL),(24245,'NCBI Gene Summary',NULL,4401,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S3AE family of ribosomal proteins. It is located in the cytoplasm. Disruption of the gene encoding rat ribosomal protein S3a, also named v-fos transformation effector protein, in v-fos-transformed rat cells results in reversion of the transformed phenotype. This gene is co-transcribed with the U73A and U73B small nucleolar RNA genes, which are located in its fourth and third introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(24246,'NCBI Gene PubMed Count',NULL,4401,NULL,NULL,NULL,49,NULL,NULL,NULL),(24247,'NCBI Gene Summary',NULL,4402,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L34E family of ribosomal proteins. It is located in the cytoplasm. This gene originally was thought to be located at 17q21, but it has been mapped to 4q. Overexpression of this gene has been observed in some cancer cells. Alternative splicing results in multiple transcript variants, all encoding the same isoform. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(24248,'NCBI Gene PubMed Count',NULL,4402,NULL,NULL,NULL,27,NULL,NULL,NULL),(24249,'NCBI Gene Summary',NULL,4403,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this gene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(24250,'NCBI Gene PubMed Count',NULL,4403,NULL,NULL,NULL,31,NULL,NULL,NULL),(24251,'NCBI Gene Summary',NULL,4404,NULL,'This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome and displays antimicrobial activity. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(24252,'NCBI Gene PubMed Count',NULL,4404,NULL,NULL,NULL,25,NULL,NULL,NULL),(24253,'NCBI Gene Summary',NULL,4405,NULL,'Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene\'s introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24254,'NCBI Gene PubMed Count',NULL,4405,NULL,NULL,NULL,44,NULL,NULL,NULL),(24255,'NCBI Gene Summary',NULL,4406,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L4E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24256,'NCBI Gene PubMed Count',NULL,4406,NULL,NULL,NULL,38,NULL,NULL,NULL),(24257,'NCBI Gene Summary',NULL,4407,NULL,'Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L7AE family of ribosomal proteins. It can interact with a subclass of nuclear hormone receptors, including thyroid hormone receptor, and inhibit their ability to transactivate by preventing their binding to their DNA response elements. This gene is included in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. It is co-transcribed with the U24, U36a, U36b, and U36c small nucleolar RNA genes, which are located in its second, fifth, fourth, and sixth introns, respectively. This gene rearranges with the trk proto-oncogene to form the chimeric oncogene trk-2h, which encodes an oncoprotein consisting of the N terminus of ribosomal protein L7a fused to the receptor tyrosine kinase domain of trk. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24258,'NCBI Gene PubMed Count',NULL,4407,NULL,NULL,NULL,42,NULL,NULL,NULL),(24259,'NCBI Gene PubMed Count',NULL,4408,NULL,NULL,NULL,13,NULL,NULL,NULL),(24260,'NCBI Gene Summary',NULL,4409,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24261,'NCBI Gene PubMed Count',NULL,4409,NULL,NULL,NULL,32,NULL,NULL,NULL),(24262,'NCBI Gene Summary',NULL,4410,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22E family of ribosomal proteins. Its initiating methionine residue is post-translationally removed. The protein can bind specifically to Epstein-Barr virus-encoded RNAs (EBERs) 1 and 2. The mouse protein has been shown to be capable of binding to heparin. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. It was previously thought that this gene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) gene located at 21q22 in some therapy-related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26, and this gene actually maps to 1p36.3-p36.2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24263,'NCBI Gene PubMed Count',NULL,4410,NULL,NULL,NULL,38,NULL,NULL,NULL),(24264,'NCBI Gene Summary',NULL,4411,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L23P family of ribosomal proteins. It is located in the cytoplasm. The protein may be one of the target molecules involved in mediating growth inhibition by interferon. In yeast, the corresponding protein binds to a specific site on the 26S rRNA. This gene is co-transcribed with the U42A, U42B, U101A, and U101B small nucleolar RNA genes, which are located in its third, first, second, and fourth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24265,'NCBI Gene PubMed Count',NULL,4411,NULL,NULL,NULL,24,NULL,NULL,NULL),(24266,'NCBI Gene Summary',NULL,4412,NULL,'This gene encodes a protein that shares high sequence similarity with ribosomal protein L26. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(24267,'NCBI Gene PubMed Count',NULL,4412,NULL,NULL,NULL,7,NULL,NULL,NULL),(24268,'NCBI Gene PubMed Count',NULL,4413,NULL,NULL,NULL,14,NULL,NULL,NULL),(24269,'NCBI Gene PubMed Count',NULL,4414,NULL,NULL,NULL,5,NULL,NULL,NULL),(24270,'NCBI Gene Summary',NULL,4415,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S9P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24271,'NCBI Gene PubMed Count',NULL,4415,NULL,NULL,NULL,35,NULL,NULL,NULL),(24272,'NCBI Gene Summary',NULL,4416,NULL,'This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(24273,'NCBI Gene PubMed Count',NULL,4416,NULL,NULL,NULL,54,NULL,NULL,NULL),(24274,'NCBI Gene Summary',NULL,4417,NULL,'Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24275,'NCBI Gene PubMed Count',NULL,4417,NULL,NULL,NULL,52,NULL,NULL,NULL),(24276,'NCBI Gene Summary',NULL,4418,NULL,'This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(24277,'NCBI Gene PubMed Count',NULL,4418,NULL,NULL,NULL,37,NULL,NULL,NULL),(24278,'NCBI Gene PubMed Count',NULL,4419,NULL,NULL,NULL,22,NULL,NULL,NULL),(24279,'NCBI Gene PubMed Count',NULL,4420,NULL,NULL,NULL,6,NULL,NULL,NULL),(24280,'NCBI Gene Summary',NULL,4422,NULL,'This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24281,'NCBI Gene PubMed Count',NULL,4422,NULL,NULL,NULL,1077,NULL,NULL,NULL),(24282,'NCBI Gene Summary',NULL,4423,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24283,'NCBI Gene PubMed Count',NULL,4423,NULL,NULL,NULL,15,NULL,NULL,NULL),(24284,'NCBI Gene Summary',NULL,4424,NULL,'This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(24285,'NCBI Gene PubMed Count',NULL,4424,NULL,NULL,NULL,12,NULL,NULL,NULL),(24286,'NCBI Gene PubMed Count',NULL,4425,NULL,NULL,NULL,2,NULL,NULL,NULL),(24287,'NCBI Gene Summary',NULL,4426,NULL,'The encoded protein contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. The encoded protein is localized to the endoplasmic reticulum and golgi apparatus, and may be associated with cell viability. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(24288,'NCBI Gene PubMed Count',NULL,4426,NULL,NULL,NULL,12,NULL,NULL,NULL),(24289,'NCBI Gene Summary',NULL,4427,NULL,'This gene encodes a member of the ropporin family. The encoded protein is present in sperm and interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(24290,'NCBI Gene PubMed Count',NULL,4427,NULL,NULL,NULL,11,NULL,NULL,NULL),(24291,'NCBI Gene Summary',NULL,4428,NULL,'This gene encodes a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system. The encoded protein is a glycosylated type I membrane protein that belongs to the ROR subfamily of cell surface receptors. It is a pseudokinase that lacks catalytic activity and may interact with the non-canonical Wnt signalling pathway. This gene is highly expressed during early embryonic development but expressed at very low levels in adult tissues. Increased expression of this gene is associated with B-cell chronic lymphocytic leukaemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(24292,'NCBI Gene PubMed Count',NULL,4428,NULL,NULL,NULL,79,NULL,NULL,NULL),(24293,'NCBI Gene PubMed Count',NULL,4429,NULL,NULL,NULL,14,NULL,NULL,NULL),(24294,'NCBI Gene Summary',NULL,4430,NULL,'This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24295,'NCBI Gene PubMed Count',NULL,4430,NULL,NULL,NULL,17,NULL,NULL,NULL),(24296,'NCBI Gene Summary',NULL,4431,NULL,'RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(24297,'NCBI Gene PubMed Count',NULL,4431,NULL,NULL,NULL,11,NULL,NULL,NULL),(24298,'NCBI Gene Summary',NULL,4432,NULL,'This gene encodes a protein component of the 60S ribosomal subunit. This protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(24299,'NCBI Gene PubMed Count',NULL,4432,NULL,NULL,NULL,37,NULL,NULL,NULL),(24300,'NCBI Gene Summary',NULL,4433,NULL,'This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3\'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2\',3\'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24301,'NCBI Gene PubMed Count',NULL,4433,NULL,NULL,NULL,58,NULL,NULL,NULL),(24302,'NCBI Gene Summary',NULL,4434,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24303,'NCBI Gene PubMed Count',NULL,4434,NULL,NULL,NULL,10,NULL,NULL,NULL),(24304,'NCBI Gene Summary',NULL,4435,NULL,'Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24305,'NCBI Gene PubMed Count',NULL,4435,NULL,NULL,NULL,12,NULL,NULL,NULL),(24306,'NCBI Gene PubMed Count',NULL,4436,NULL,NULL,NULL,7,NULL,NULL,NULL),(24307,'NCBI Gene Summary',NULL,4437,NULL,'This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(24308,'NCBI Gene PubMed Count',NULL,4437,NULL,NULL,NULL,191,NULL,NULL,NULL),(24309,'NCBI Gene Summary',NULL,4438,NULL,'The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(24310,'NCBI Gene PubMed Count',NULL,4438,NULL,NULL,NULL,25,NULL,NULL,NULL),(24311,'NCBI Gene Summary',NULL,4439,NULL,'The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24312,'NCBI Gene PubMed Count',NULL,4439,NULL,NULL,NULL,173,NULL,NULL,NULL),(24313,'NCBI Gene Summary',NULL,4440,NULL,'The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(24314,'NCBI Gene PubMed Count',NULL,4440,NULL,NULL,NULL,89,NULL,NULL,NULL),(24315,'NCBI Gene Summary',NULL,4441,NULL,'Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24316,'NCBI Gene PubMed Count',NULL,4441,NULL,NULL,NULL,25,NULL,NULL,NULL),(24317,'NCBI Gene Summary',NULL,4442,NULL,'The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(24318,'NCBI Gene PubMed Count',NULL,4442,NULL,NULL,NULL,21,NULL,NULL,NULL),(24319,'NCBI Gene PubMed Count',NULL,4443,NULL,NULL,NULL,14,NULL,NULL,NULL),(24320,'NCBI Gene Summary',NULL,4444,NULL,'This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(24321,'NCBI Gene PubMed Count',NULL,4444,NULL,NULL,NULL,16,NULL,NULL,NULL),(24322,'NCBI Gene Summary',NULL,4445,NULL,'Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24323,'NCBI Gene PubMed Count',NULL,4445,NULL,NULL,NULL,12,NULL,NULL,NULL),(24324,'NCBI Gene Summary',NULL,4446,NULL,'The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(24325,'NCBI Gene PubMed Count',NULL,4446,NULL,NULL,NULL,39,NULL,NULL,NULL),(24326,'NCBI Gene Summary',NULL,4447,NULL,'The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]',NULL,NULL,NULL,NULL,NULL),(24327,'NCBI Gene PubMed Count',NULL,4447,NULL,NULL,NULL,92,NULL,NULL,NULL),(24328,'NCBI Gene Summary',NULL,4448,NULL,'This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(24329,'NCBI Gene PubMed Count',NULL,4448,NULL,NULL,NULL,33,NULL,NULL,NULL),(24330,'NCBI Gene PubMed Count',NULL,4449,NULL,NULL,NULL,11,NULL,NULL,NULL),(24331,'NCBI Gene Summary',NULL,4450,NULL,'The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(24332,'NCBI Gene PubMed Count',NULL,4450,NULL,NULL,NULL,15,NULL,NULL,NULL),(24333,'NCBI Gene PubMed Count',NULL,4451,NULL,NULL,NULL,9,NULL,NULL,NULL),(24334,'NCBI Gene Summary',NULL,4452,NULL,'This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(24335,'NCBI Gene PubMed Count',NULL,4452,NULL,NULL,NULL,141,NULL,NULL,NULL),(24336,'NCBI Gene PubMed Count',NULL,4453,NULL,NULL,NULL,8,NULL,NULL,NULL),(24337,'NCBI Gene Summary',NULL,4454,NULL,'The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24338,'NCBI Gene PubMed Count',NULL,4454,NULL,NULL,NULL,34,NULL,NULL,NULL),(24339,'NCBI Gene Summary',NULL,4455,NULL,'This gene encodes an integral membrane protein that contains a RING-type zinc finger. The encoded protein may interact with multiple transient receptor potential cation channel subfamily C (TRPC) proteins and regulate the trafficking and insertion of these proteins into the plasma membrane. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(24340,'NCBI Gene PubMed Count',NULL,4455,NULL,NULL,NULL,7,NULL,NULL,NULL),(24341,'NCBI Gene PubMed Count',NULL,4456,NULL,NULL,NULL,14,NULL,NULL,NULL),(24342,'NCBI Gene PubMed Count',NULL,4457,NULL,NULL,NULL,6,NULL,NULL,NULL),(24343,'NCBI Gene Summary',NULL,4458,NULL,'This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(24344,'NCBI Gene PubMed Count',NULL,4458,NULL,NULL,NULL,47,NULL,NULL,NULL),(24345,'NCBI Gene Summary',NULL,4459,NULL,'The protein encoded by this gene is a mitochondrial membrane protein that is responsible for increasing the level of reactive oxygen species (ROS) in cells. The protein also has antimicrobial activity against a variety of bacteria by inducing bacterial membrane breakage. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(24346,'NCBI Gene PubMed Count',NULL,4459,NULL,NULL,NULL,34,NULL,NULL,NULL),(24347,'NCBI Gene Summary',NULL,4460,NULL,'This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(24348,'NCBI Gene PubMed Count',NULL,4460,NULL,NULL,NULL,25,NULL,NULL,NULL),(24349,'NCBI Gene Summary',NULL,4461,NULL,'This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24350,'NCBI Gene PubMed Count',NULL,4461,NULL,NULL,NULL,82,NULL,NULL,NULL),(24351,'NCBI Gene PubMed Count',NULL,4462,NULL,NULL,NULL,31,NULL,NULL,NULL),(24352,'NCBI Gene Summary',NULL,4463,NULL,'This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(24353,'NCBI Gene PubMed Count',NULL,4463,NULL,NULL,NULL,91,NULL,NULL,NULL),(24354,'NCBI Gene Summary',NULL,4464,NULL,'This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24355,'NCBI Gene PubMed Count',NULL,4464,NULL,NULL,NULL,30,NULL,NULL,NULL),(24356,'NCBI Gene Summary',NULL,4465,NULL,'Encoded in regions involved in pericentric inversions in patients with bipolar affective disorder. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24357,'NCBI Gene PubMed Count',NULL,4465,NULL,NULL,NULL,9,NULL,NULL,NULL),(24358,'NCBI Gene Summary',NULL,4466,NULL,'The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24359,'NCBI Gene PubMed Count',NULL,4466,NULL,NULL,NULL,18,NULL,NULL,NULL),(24360,'NCBI Gene PubMed Count',NULL,4467,NULL,NULL,NULL,12,NULL,NULL,NULL),(24361,'NCBI Gene Summary',NULL,4468,NULL,'This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are produced by RNA polymerase II and are components of the heterogeneous nuclear RNA (hnRNA) complexes. They are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene, which binds to one of the components of the multiprotein editosome complex, has two repeats of quasi-RRM (RNA recognition motif) domains that bind to RNAs. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24362,'NCBI Gene PubMed Count',NULL,4468,NULL,NULL,NULL,26,NULL,NULL,NULL),(24363,'NCBI Gene Summary',NULL,4469,NULL,'This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(24364,'NCBI Gene PubMed Count',NULL,4469,NULL,NULL,NULL,32,NULL,NULL,NULL),(24365,'NCBI Gene Summary',NULL,4470,NULL,'This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24366,'NCBI Gene PubMed Count',NULL,4470,NULL,NULL,NULL,82,NULL,NULL,NULL),(24367,'NCBI Gene Summary',NULL,4471,NULL,'This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(24368,'NCBI Gene PubMed Count',NULL,4471,NULL,NULL,NULL,73,NULL,NULL,NULL),(24369,'NCBI Gene PubMed Count',NULL,4472,NULL,NULL,NULL,14,NULL,NULL,NULL),(24370,'NCBI Gene Summary',NULL,4473,NULL,'This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(24371,'NCBI Gene PubMed Count',NULL,4473,NULL,NULL,NULL,12,NULL,NULL,NULL),(24372,'NCBI Gene PubMed Count',NULL,4474,NULL,NULL,NULL,7,NULL,NULL,NULL),(24373,'NCBI Gene PubMed Count',NULL,4475,NULL,NULL,NULL,9,NULL,NULL,NULL),(24374,'NCBI Gene Summary',NULL,4476,NULL,'The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(24375,'NCBI Gene PubMed Count',NULL,4476,NULL,NULL,NULL,41,NULL,NULL,NULL),(24376,'NCBI Gene Summary',NULL,4477,NULL,'The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24377,'NCBI Gene PubMed Count',NULL,4477,NULL,NULL,NULL,6,NULL,NULL,NULL),(24378,'NCBI Gene Summary',NULL,4478,NULL,'This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF). Mutations in this gene have been found in individuals with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2. Alternative splicing results in additional coding and non-coding transcript variants. Pseudogenes of this gene have been defined on chromosomes 2 and 17. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(24379,'NCBI Gene PubMed Count',NULL,4478,NULL,NULL,NULL,39,NULL,NULL,NULL),(24380,'NCBI Gene Summary',NULL,4479,NULL,'RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(24381,'NCBI Gene PubMed Count',NULL,4479,NULL,NULL,NULL,25,NULL,NULL,NULL),(24382,'NCBI Gene PubMed Count',NULL,4480,NULL,NULL,NULL,4,NULL,NULL,NULL),(24383,'NCBI Gene PubMed Count',NULL,4481,NULL,NULL,NULL,2,NULL,NULL,NULL),(24384,'NCBI Gene Summary',NULL,4482,NULL,'This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24385,'NCBI Gene PubMed Count',NULL,4482,NULL,NULL,NULL,66,NULL,NULL,NULL),(24386,'NCBI Gene Summary',NULL,4483,NULL,'This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24387,'NCBI Gene PubMed Count',NULL,4483,NULL,NULL,NULL,73,NULL,NULL,NULL),(24388,'NCBI Gene PubMed Count',NULL,4484,NULL,NULL,NULL,19,NULL,NULL,NULL),(24389,'NCBI Gene Summary',NULL,4485,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24390,'NCBI Gene PubMed Count',NULL,4485,NULL,NULL,NULL,12,NULL,NULL,NULL),(24391,'NCBI Gene PubMed Count',NULL,4486,NULL,NULL,NULL,10,NULL,NULL,NULL),(24392,'NCBI Gene PubMed Count',NULL,4487,NULL,NULL,NULL,23,NULL,NULL,NULL),(24393,'NCBI Gene PubMed Count',NULL,4488,NULL,NULL,NULL,11,NULL,NULL,NULL),(24394,'NCBI Gene PubMed Count',NULL,4489,NULL,NULL,NULL,6,NULL,NULL,NULL),(24395,'NCBI Gene PubMed Count',NULL,4490,NULL,NULL,NULL,0,NULL,NULL,NULL),(24396,'NCBI Gene Summary',NULL,4491,NULL,'The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24397,'NCBI Gene PubMed Count',NULL,4491,NULL,NULL,NULL,18,NULL,NULL,NULL),(24398,'NCBI Gene Summary',NULL,4492,NULL,'RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed 16314844]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24399,'NCBI Gene PubMed Count',NULL,4492,NULL,NULL,NULL,16,NULL,NULL,NULL),(24400,'NCBI Gene Summary',NULL,4493,NULL,'The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription suppressor of GATA-mediated transcription. Transcription repressor ZNF278/PATZ is found to interact with this protein, and thus reduce the enhancement of androgen receptor-dependent transcription mediated by this protein. Studies of the mouse and rat counterparts suggested a role of this protein in spermatogenesis. A pseudogene of this gene is found on chromosome 1.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(24401,'NCBI Gene PubMed Count',NULL,4493,NULL,NULL,NULL,59,NULL,NULL,NULL),(24402,'NCBI Gene PubMed Count',NULL,4494,NULL,NULL,NULL,5,NULL,NULL,NULL),(24403,'NCBI Gene PubMed Count',NULL,4495,NULL,NULL,NULL,39,NULL,NULL,NULL),(24404,'NCBI Gene Summary',NULL,4496,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(24405,'NCBI Gene PubMed Count',NULL,4496,NULL,NULL,NULL,16,NULL,NULL,NULL),(24406,'NCBI Gene Summary',NULL,4497,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24407,'NCBI Gene PubMed Count',NULL,4497,NULL,NULL,NULL,12,NULL,NULL,NULL),(24408,'NCBI Gene Summary',NULL,4498,NULL,'This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The protein encoded by this gene localizes to the nucleolus and is thought to play a role in the biogenesis of the 60S ribosomal subunit. The precise function of this gene is currently unknown. This gene utilizes alternative polyadenylation signals and has multiple pseudogenes. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(24409,'NCBI Gene PubMed Count',NULL,4498,NULL,NULL,NULL,15,NULL,NULL,NULL),(24410,'NCBI Gene Summary',NULL,4499,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24411,'NCBI Gene PubMed Count',NULL,4499,NULL,NULL,NULL,16,NULL,NULL,NULL),(24412,'NCBI Gene Summary',NULL,4500,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24413,'NCBI Gene PubMed Count',NULL,4500,NULL,NULL,NULL,18,NULL,NULL,NULL),(24414,'NCBI Gene Summary',NULL,4501,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. Read-through transcription also exists between this gene and the neighboring upstream lipoyltransferase 1 (LIPT1) gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(24415,'NCBI Gene PubMed Count',NULL,4501,NULL,NULL,NULL,16,NULL,NULL,NULL),(24416,'NCBI Gene Summary',NULL,4502,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(24417,'NCBI Gene PubMed Count',NULL,4502,NULL,NULL,NULL,17,NULL,NULL,NULL),(24418,'NCBI Gene Summary',NULL,4503,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24419,'NCBI Gene PubMed Count',NULL,4503,NULL,NULL,NULL,12,NULL,NULL,NULL),(24420,'NCBI Gene Summary',NULL,4504,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding two different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24421,'NCBI Gene PubMed Count',NULL,4504,NULL,NULL,NULL,15,NULL,NULL,NULL),(24422,'NCBI Gene Summary',NULL,4505,NULL,'This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(24423,'NCBI Gene PubMed Count',NULL,4505,NULL,NULL,NULL,7,NULL,NULL,NULL),(24424,'NCBI Gene Summary',NULL,4506,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24425,'NCBI Gene PubMed Count',NULL,4506,NULL,NULL,NULL,22,NULL,NULL,NULL),(24426,'NCBI Gene Summary',NULL,4507,NULL,'The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein has broad-spectrum antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(24427,'NCBI Gene PubMed Count',NULL,4507,NULL,NULL,NULL,29,NULL,NULL,NULL),(24428,'NCBI Gene Summary',NULL,4508,NULL,'This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24429,'NCBI Gene PubMed Count',NULL,4508,NULL,NULL,NULL,32,NULL,NULL,NULL),(24430,'NCBI Gene PubMed Count',NULL,4509,NULL,NULL,NULL,3,NULL,NULL,NULL),(24431,'NCBI Gene Summary',NULL,4510,NULL,'This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson\'s disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(24432,'NCBI Gene PubMed Count',NULL,4510,NULL,NULL,NULL,19,NULL,NULL,NULL),(24433,'NCBI Gene Summary',NULL,4511,NULL,'The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with  COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24434,'NCBI Gene PubMed Count',NULL,4511,NULL,NULL,NULL,19,NULL,NULL,NULL),(24435,'NCBI Gene Summary',NULL,4512,NULL,'This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(24436,'NCBI Gene PubMed Count',NULL,4512,NULL,NULL,NULL,13,NULL,NULL,NULL),(24437,'NCBI Gene PubMed Count',NULL,4513,NULL,NULL,NULL,4,NULL,NULL,NULL),(24438,'NCBI Gene Summary',NULL,4514,NULL,'This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24439,'NCBI Gene PubMed Count',NULL,4514,NULL,NULL,NULL,15,NULL,NULL,NULL),(24440,'NCBI Gene PubMed Count',NULL,4515,NULL,NULL,NULL,9,NULL,NULL,NULL),(24441,'NCBI Gene Summary',NULL,4516,NULL,'The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24442,'NCBI Gene PubMed Count',NULL,4516,NULL,NULL,NULL,111,NULL,NULL,NULL),(24443,'NCBI Gene PubMed Count',NULL,4517,NULL,NULL,NULL,11,NULL,NULL,NULL),(24444,'NCBI Gene Summary',NULL,4518,NULL,'The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24445,'NCBI Gene PubMed Count',NULL,4518,NULL,NULL,NULL,48,NULL,NULL,NULL),(24446,'NCBI Gene Summary',NULL,4519,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24447,'NCBI Gene PubMed Count',NULL,4519,NULL,NULL,NULL,10,NULL,NULL,NULL),(24448,'NCBI Gene Summary',NULL,4520,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24449,'NCBI Gene PubMed Count',NULL,4520,NULL,NULL,NULL,15,NULL,NULL,NULL),(24450,'NCBI Gene Summary',NULL,4521,NULL,'This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24451,'NCBI Gene PubMed Count',NULL,4521,NULL,NULL,NULL,137,NULL,NULL,NULL),(24452,'NCBI Gene PubMed Count',NULL,4522,NULL,NULL,NULL,13,NULL,NULL,NULL),(24453,'NCBI Gene Summary',NULL,4523,NULL,'The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(24454,'NCBI Gene PubMed Count',NULL,4523,NULL,NULL,NULL,85,NULL,NULL,NULL),(24455,'NCBI Gene Summary',NULL,4524,NULL,'The protein encoded by this gene has a C-terminal domain with tRNA 3&#8242; processing endoribonuclease activity, which catalyzes the removal of the 3\' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(24456,'NCBI Gene PubMed Count',NULL,4524,NULL,NULL,NULL,58,NULL,NULL,NULL),(24457,'NCBI Gene Summary',NULL,4525,NULL,'This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(24458,'NCBI Gene PubMed Count',NULL,4525,NULL,NULL,NULL,24,NULL,NULL,NULL),(24459,'NCBI Gene Summary',NULL,4526,NULL,'This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24460,'NCBI Gene PubMed Count',NULL,4526,NULL,NULL,NULL,268,NULL,NULL,NULL),(24461,'NCBI Gene PubMed Count',NULL,4527,NULL,NULL,NULL,25,NULL,NULL,NULL),(24462,'NCBI Gene PubMed Count',NULL,4528,NULL,NULL,NULL,7,NULL,NULL,NULL),(24463,'NCBI Gene PubMed Count',NULL,4529,NULL,NULL,NULL,5,NULL,NULL,NULL),(24464,'NCBI Gene Summary',NULL,4530,NULL,'The protein encoded by this gene contains a RING-H2 finger motif, which is known to be important for protein-protein interactions. The expression of this gene has been shown to be induced by mutant RET proteins (MEN2A/MEN2B). The germline mutations in RET gene are known to be responsible for the development of multiple endocrine neoplasia (MEN). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24465,'NCBI Gene PubMed Count',NULL,4530,NULL,NULL,NULL,35,NULL,NULL,NULL),(24466,'NCBI Gene Summary',NULL,4531,NULL,'The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(24467,'NCBI Gene PubMed Count',NULL,4531,NULL,NULL,NULL,20,NULL,NULL,NULL),(24468,'NCBI Gene Summary',NULL,4532,NULL,'The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(24469,'NCBI Gene PubMed Count',NULL,4532,NULL,NULL,NULL,21,NULL,NULL,NULL),(24470,'NCBI Gene Summary',NULL,4533,NULL,'This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24471,'NCBI Gene PubMed Count',NULL,4533,NULL,NULL,NULL,24,NULL,NULL,NULL),(24472,'NCBI Gene Summary',NULL,4534,NULL,'This gene encodes a cell surface receptor for macrophage-stimulating protein (MSP) with tyrosine kinase activity. The mature form of this protein is a heterodimer of disulfide-linked alpha and beta subunits, generated by proteolytic cleavage of a single-chain precursor. The beta subunit undergoes tyrosine phosphorylation upon stimulation by MSP. This protein is expressed on the ciliated epithelia of the mucociliary transport apparatus of the lung, and together with MSP, thought to be involved in host defense. Alternative splicing generates multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(24473,'NCBI Gene PubMed Count',NULL,4534,NULL,NULL,NULL,139,NULL,NULL,NULL),(24474,'NCBI Gene Summary',NULL,4535,NULL,'The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors.  The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development.  Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24475,'NCBI Gene PubMed Count',NULL,4535,NULL,NULL,NULL,104,NULL,NULL,NULL),(24476,'NCBI Gene Summary',NULL,4536,NULL,'The protein encoded by this gene is found in the fibrous sheath of spermatazoa, where it interacts with rhophilin, a Rho GTPase binding protein. The encoded protein also can bind an A-kinase anchoring protein (AKAP110) and a calcium-binding tyrosine phosphorylation-regulated protein (CABYR). This protein may be involved in sperm motility and has been shown to be a cancer-testis antigen in hematologic malignancies. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(24477,'NCBI Gene PubMed Count',NULL,4536,NULL,NULL,NULL,17,NULL,NULL,NULL),(24478,'NCBI Gene PubMed Count',NULL,4537,NULL,NULL,NULL,5,NULL,NULL,NULL),(24479,'NCBI Gene Summary',NULL,4538,NULL,'The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes.  Class II tRNA synthases evolved early in evolution and are highly conserved.  This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein.  tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons.  They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24480,'NCBI Gene PubMed Count',NULL,4538,NULL,NULL,NULL,30,NULL,NULL,NULL),(24481,'NCBI Gene PubMed Count',NULL,4539,NULL,NULL,NULL,10,NULL,NULL,NULL),(24482,'NCBI Gene Summary',NULL,4540,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24483,'NCBI Gene PubMed Count',NULL,4540,NULL,NULL,NULL,13,NULL,NULL,NULL),(24484,'NCBI Gene Summary',NULL,4541,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24485,'NCBI Gene PubMed Count',NULL,4541,NULL,NULL,NULL,11,NULL,NULL,NULL),(24486,'NCBI Gene PubMed Count',NULL,4542,NULL,NULL,NULL,14,NULL,NULL,NULL),(24487,'NCBI Gene PubMed Count',NULL,4543,NULL,NULL,NULL,6,NULL,NULL,NULL),(24488,'NCBI Gene Summary',NULL,4544,NULL,'RASL11A is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(24489,'NCBI Gene PubMed Count',NULL,4544,NULL,NULL,NULL,4,NULL,NULL,NULL),(24490,'NCBI Gene Summary',NULL,4545,NULL,'This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(24491,'NCBI Gene PubMed Count',NULL,4545,NULL,NULL,NULL,12,NULL,NULL,NULL),(24492,'NCBI Gene Summary',NULL,4546,NULL,'This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(24493,'NCBI Gene PubMed Count',NULL,4546,NULL,NULL,NULL,17,NULL,NULL,NULL),(24494,'NCBI Gene Summary',NULL,4547,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24495,'NCBI Gene PubMed Count',NULL,4547,NULL,NULL,NULL,17,NULL,NULL,NULL),(24496,'NCBI Gene Summary',NULL,4548,NULL,'This gene encodes a member of the RNA 3\'-phosphate cyclase family. The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3\'-phosphate of RNA substrates to a 2\',3\'-cyclic phosphodiester. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(24497,'NCBI Gene PubMed Count',NULL,4548,NULL,NULL,NULL,11,NULL,NULL,NULL),(24498,'NCBI Gene Summary',NULL,4549,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(24499,'NCBI Gene PubMed Count',NULL,4549,NULL,NULL,NULL,14,NULL,NULL,NULL),(24500,'NCBI Gene Summary',NULL,4550,NULL,'This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24501,'NCBI Gene PubMed Count',NULL,4550,NULL,NULL,NULL,32,NULL,NULL,NULL),(24502,'NCBI Gene PubMed Count',NULL,4551,NULL,NULL,NULL,7,NULL,NULL,NULL),(24503,'NCBI Gene PubMed Count',NULL,4552,NULL,NULL,NULL,38,NULL,NULL,NULL),(24504,'NCBI Gene PubMed Count',NULL,4553,NULL,NULL,NULL,4,NULL,NULL,NULL),(24505,'NCBI Gene Summary',NULL,4554,NULL,'The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(24506,'NCBI Gene PubMed Count',NULL,4554,NULL,NULL,NULL,29,NULL,NULL,NULL),(24507,'NCBI Gene Summary',NULL,4555,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24508,'NCBI Gene PubMed Count',NULL,4555,NULL,NULL,NULL,293,NULL,NULL,NULL),(24509,'NCBI Gene Summary',NULL,4556,NULL,'This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle\'s loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(24510,'NCBI Gene PubMed Count',NULL,4556,NULL,NULL,NULL,57,NULL,NULL,NULL),(24511,'NCBI Gene Summary',NULL,4557,NULL,'SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24512,'NCBI Gene PubMed Count',NULL,4557,NULL,NULL,NULL,10,NULL,NULL,NULL),(24513,'NCBI Gene Summary',NULL,4558,NULL,'Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24514,'NCBI Gene PubMed Count',NULL,4558,NULL,NULL,NULL,47,NULL,NULL,NULL),(24515,'NCBI Gene Summary',NULL,4559,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24516,'NCBI Gene PubMed Count',NULL,4559,NULL,NULL,NULL,14,NULL,NULL,NULL),(24517,'NCBI Gene Summary',NULL,4560,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S15P family. The encoded protein is more than two times the size of its E. coli counterpart, with the 12S rRNA binding sites conserved. Between human and mouse, the encoded protein is the least conserved among small subunit ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 15q and 19q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24518,'NCBI Gene PubMed Count',NULL,4560,NULL,NULL,NULL,13,NULL,NULL,NULL),(24519,'NCBI Gene Summary',NULL,4561,NULL,'This gene is a member of a family of gag-related retrotransposon genes. These genes appear to have lost the ability to retrotranspose; however, their open reading frames have remained intact, which may indicate that these genes have acquired new functions in the cell. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(24520,'NCBI Gene PubMed Count',NULL,4561,NULL,NULL,NULL,6,NULL,NULL,NULL),(24521,'NCBI Gene PubMed Count',NULL,4562,NULL,NULL,NULL,5,NULL,NULL,NULL),(24522,'NCBI Gene Summary',NULL,4563,NULL,'This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding proteins. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(24523,'NCBI Gene PubMed Count',NULL,4563,NULL,NULL,NULL,12,NULL,NULL,NULL),(24524,'NCBI Gene PubMed Count',NULL,4564,NULL,NULL,NULL,4,NULL,NULL,NULL),(24525,'NCBI Gene Summary',NULL,4565,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24526,'NCBI Gene PubMed Count',NULL,4565,NULL,NULL,NULL,15,NULL,NULL,NULL),(24527,'NCBI Gene Summary',NULL,4566,NULL,'This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(24528,'NCBI Gene PubMed Count',NULL,4566,NULL,NULL,NULL,21,NULL,NULL,NULL),(24529,'NCBI Gene Summary',NULL,4567,NULL,'The protein encoded by this gene is a component of the U1, U2, U4, and U5 small nuclear ribonucleoprotein complexes, precursors of the spliceosome. The encoded protein may also be a part of the U7 small nuclear ribonucleoprotein complex, which participates in the processing of the 3\' end of histone transcripts. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(24530,'NCBI Gene PubMed Count',NULL,4567,NULL,NULL,NULL,40,NULL,NULL,NULL),(24531,'NCBI Gene PubMed Count',NULL,4568,NULL,NULL,NULL,25,NULL,NULL,NULL),(24532,'NCBI Gene PubMed Count',NULL,4569,NULL,NULL,NULL,9,NULL,NULL,NULL),(24533,'NCBI Gene Summary',NULL,4570,NULL,'This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(24534,'NCBI Gene PubMed Count',NULL,4570,NULL,NULL,NULL,82,NULL,NULL,NULL),(24535,'NCBI Gene Summary',NULL,4571,NULL,'This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). The encoded protein forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(24536,'NCBI Gene PubMed Count',NULL,4571,NULL,NULL,NULL,73,NULL,NULL,NULL),(24537,'NCBI Gene Summary',NULL,4572,NULL,'The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24538,'NCBI Gene PubMed Count',NULL,4572,NULL,NULL,NULL,49,NULL,NULL,NULL),(24539,'NCBI Gene Summary',NULL,4573,NULL,'This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24540,'NCBI Gene PubMed Count',NULL,4573,NULL,NULL,NULL,141,NULL,NULL,NULL),(24541,'NCBI Gene PubMed Count',NULL,4574,NULL,NULL,NULL,15,NULL,NULL,NULL),(24542,'NCBI Gene Summary',NULL,4575,NULL,'This gene encodes a member of the zinc-iron permease family. The encoded protein is localized to the cell membrane and acts as a zinc uptake transporter. This gene has been linked to prostate cancer, breast cancer, and Alzheimer\'s disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(24543,'NCBI Gene PubMed Count',NULL,4575,NULL,NULL,NULL,34,NULL,NULL,NULL),(24544,'NCBI Gene PubMed Count',NULL,4576,NULL,NULL,NULL,34,NULL,NULL,NULL),(24545,'NCBI Gene PubMed Count',NULL,4577,NULL,NULL,NULL,8,NULL,NULL,NULL),(24546,'NCBI Gene Summary',NULL,4578,NULL,'The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(24547,'NCBI Gene PubMed Count',NULL,4578,NULL,NULL,NULL,13,NULL,NULL,NULL),(24548,'NCBI Gene Summary',NULL,4579,NULL,'Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24549,'NCBI Gene PubMed Count',NULL,4579,NULL,NULL,NULL,4,NULL,NULL,NULL),(24550,'NCBI Gene PubMed Count',NULL,4580,NULL,NULL,NULL,1,NULL,NULL,NULL),(24551,'NCBI Gene Summary',NULL,4581,NULL,'The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(24552,'NCBI Gene PubMed Count',NULL,4581,NULL,NULL,NULL,63,NULL,NULL,NULL),(24553,'NCBI Gene Summary',NULL,4582,NULL,'The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24554,'NCBI Gene PubMed Count',NULL,4582,NULL,NULL,NULL,73,NULL,NULL,NULL),(24555,'NCBI Gene Summary',NULL,4583,NULL,'This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(24556,'NCBI Gene PubMed Count',NULL,4583,NULL,NULL,NULL,43,NULL,NULL,NULL),(24557,'NCBI Gene Summary',NULL,4584,NULL,'The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme\'s outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24558,'NCBI Gene PubMed Count',NULL,4584,NULL,NULL,NULL,12,NULL,NULL,NULL),(24559,'NCBI Gene Summary',NULL,4585,NULL,'This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(24560,'NCBI Gene PubMed Count',NULL,4585,NULL,NULL,NULL,14,NULL,NULL,NULL),(24561,'NCBI Gene Summary',NULL,4586,NULL,'This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(24562,'NCBI Gene PubMed Count',NULL,4586,NULL,NULL,NULL,7,NULL,NULL,NULL),(24563,'NCBI Gene Summary',NULL,4587,NULL,'Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24564,'NCBI Gene PubMed Count',NULL,4587,NULL,NULL,NULL,119,NULL,NULL,NULL),(24565,'NCBI Gene PubMed Count',NULL,4588,NULL,NULL,NULL,5,NULL,NULL,NULL),(24566,'NCBI Gene Summary',NULL,4589,NULL,'This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell migration and invasion via interaction with P21-activated kinase-1, which promotes its expression. The encoded protein localizes to F-actin-enriched invadopodia to induce formation of protrusions, thereby facilitating cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(24567,'NCBI Gene PubMed Count',NULL,4589,NULL,NULL,NULL,10,NULL,NULL,NULL),(24568,'NCBI Gene Summary',NULL,4590,NULL,'This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(24569,'NCBI Gene PubMed Count',NULL,4590,NULL,NULL,NULL,64,NULL,NULL,NULL),(24570,'NCBI Gene PubMed Count',NULL,4591,NULL,NULL,NULL,12,NULL,NULL,NULL),(24571,'NCBI Gene Summary',NULL,4592,NULL,'This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24572,'NCBI Gene PubMed Count',NULL,4592,NULL,NULL,NULL,96,NULL,NULL,NULL),(24573,'NCBI Gene Summary',NULL,4593,NULL,'This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(24574,'NCBI Gene PubMed Count',NULL,4593,NULL,NULL,NULL,33,NULL,NULL,NULL),(24575,'NCBI Gene Summary',NULL,4594,NULL,'This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(24576,'NCBI Gene PubMed Count',NULL,4594,NULL,NULL,NULL,48,NULL,NULL,NULL),(24577,'NCBI Gene Summary',NULL,4595,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24578,'NCBI Gene PubMed Count',NULL,4595,NULL,NULL,NULL,116,NULL,NULL,NULL),(24579,'NCBI Gene Summary',NULL,4596,NULL,'This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke\'s-like encephalopathy.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(24580,'NCBI Gene PubMed Count',NULL,4596,NULL,NULL,NULL,43,NULL,NULL,NULL),(24581,'NCBI Gene Summary',NULL,4597,NULL,'This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(24582,'NCBI Gene PubMed Count',NULL,4597,NULL,NULL,NULL,30,NULL,NULL,NULL),(24583,'NCBI Gene Summary',NULL,4598,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24584,'NCBI Gene PubMed Count',NULL,4598,NULL,NULL,NULL,33,NULL,NULL,NULL),(24585,'NCBI Gene Summary',NULL,4599,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24586,'NCBI Gene PubMed Count',NULL,4599,NULL,NULL,NULL,13,NULL,NULL,NULL),(24587,'NCBI Gene PubMed Count',NULL,4600,NULL,NULL,NULL,12,NULL,NULL,NULL),(24588,'NCBI Gene Summary',NULL,4601,NULL,'This gene encodes a nuclear protein that interacts with hepatitis B virus X protein (HBX) and facilitates transcription of hepatitis B virus genes by the HBX transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H subunit functions as the nucleosome-dependent ATPase, and this protein as the histone chaperone. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(24589,'NCBI Gene PubMed Count',NULL,4601,NULL,NULL,NULL,48,NULL,NULL,NULL),(24590,'NCBI Gene Summary',NULL,4602,NULL,'The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(24591,'NCBI Gene PubMed Count',NULL,4602,NULL,NULL,NULL,9,NULL,NULL,NULL),(24592,'NCBI Gene Summary',NULL,4603,NULL,'This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(24593,'NCBI Gene PubMed Count',NULL,4603,NULL,NULL,NULL,35,NULL,NULL,NULL),(24594,'NCBI Gene Summary',NULL,4604,NULL,'Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24595,'NCBI Gene PubMed Count',NULL,4604,NULL,NULL,NULL,71,NULL,NULL,NULL),(24596,'NCBI Gene Summary',NULL,4605,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 11. Read-through transcription exists between this gene and the upstream upregulator of cell proliferation (URGCP) gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(24597,'NCBI Gene PubMed Count',NULL,4605,NULL,NULL,NULL,17,NULL,NULL,NULL),(24598,'NCBI Gene Summary',NULL,4606,NULL,'This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24599,'NCBI Gene PubMed Count',NULL,4606,NULL,NULL,NULL,34,NULL,NULL,NULL),(24600,'NCBI Gene Summary',NULL,4607,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24601,'NCBI Gene PubMed Count',NULL,4607,NULL,NULL,NULL,14,NULL,NULL,NULL),(24602,'NCBI Gene Summary',NULL,4608,NULL,'This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(24603,'NCBI Gene PubMed Count',NULL,4608,NULL,NULL,NULL,12,NULL,NULL,NULL),(24604,'NCBI Gene PubMed Count',NULL,4609,NULL,NULL,NULL,10,NULL,NULL,NULL),(24605,'NCBI Gene Summary',NULL,4610,NULL,'This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24606,'NCBI Gene PubMed Count',NULL,4610,NULL,NULL,NULL,149,NULL,NULL,NULL),(24607,'NCBI Gene PubMed Count',NULL,4611,NULL,NULL,NULL,10,NULL,NULL,NULL),(24608,'NCBI Gene Summary',NULL,4612,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding fidelity and susceptibility to aminoglycoside antibiotics. The gene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this gene, and both genes are possible candidates for the autosomal dominant deafness gene (DFNA4). Splice variants that differ in the 5\' UTR have been found for this gene; all three variants encode the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24609,'NCBI Gene PubMed Count',NULL,4612,NULL,NULL,NULL,19,NULL,NULL,NULL),(24610,'NCBI Gene PubMed Count',NULL,4613,NULL,NULL,NULL,7,NULL,NULL,NULL),(24611,'NCBI Gene Summary',NULL,4614,NULL,'This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(24612,'NCBI Gene PubMed Count',NULL,4614,NULL,NULL,NULL,7,NULL,NULL,NULL),(24613,'NCBI Gene Summary',NULL,4615,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(24614,'NCBI Gene PubMed Count',NULL,4615,NULL,NULL,NULL,14,NULL,NULL,NULL),(24615,'NCBI Gene PubMed Count',NULL,4616,NULL,NULL,NULL,23,NULL,NULL,NULL),(24616,'NCBI Gene PubMed Count',NULL,4617,NULL,NULL,NULL,10,NULL,NULL,NULL),(24617,'NCBI Gene Summary',NULL,4618,NULL,'This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24618,'NCBI Gene PubMed Count',NULL,4618,NULL,NULL,NULL,8,NULL,NULL,NULL),(24619,'NCBI Gene Summary',NULL,4619,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3\' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24620,'NCBI Gene PubMed Count',NULL,4619,NULL,NULL,NULL,19,NULL,NULL,NULL),(24621,'NCBI Gene PubMed Count',NULL,4620,NULL,NULL,NULL,4,NULL,NULL,NULL),(24622,'NCBI Gene Summary',NULL,4621,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24623,'NCBI Gene PubMed Count',NULL,4621,NULL,NULL,NULL,20,NULL,NULL,NULL),(24624,'NCBI Gene Summary',NULL,4622,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(24625,'NCBI Gene PubMed Count',NULL,4622,NULL,NULL,NULL,15,NULL,NULL,NULL),(24626,'NCBI Gene Summary',NULL,4623,NULL,'This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(24627,'NCBI Gene PubMed Count',NULL,4623,NULL,NULL,NULL,16,NULL,NULL,NULL),(24628,'NCBI Gene Summary',NULL,4624,NULL,'The protein encoded by this intronless gene inhibits the expression of the solute carrier family 5 (sodium/glucose cotransporter), member 1 gene (SLC5A1) and downregulates exocytosis of the SLC5A1 protein. The encoded protein is sometimes found coating the trans-Golgi network and other times is localized to the nucleus, depending on the cell cycle stage. This protein also inhibits the expression of solute carrier family 22 (organic cation transporter), member 2 (SLC22A2). [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(24629,'NCBI Gene PubMed Count',NULL,4624,NULL,NULL,NULL,16,NULL,NULL,NULL),(24630,'NCBI Gene Summary',NULL,4625,NULL,'RASL11B is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(24631,'NCBI Gene PubMed Count',NULL,4625,NULL,NULL,NULL,5,NULL,NULL,NULL),(24632,'NCBI Gene Summary',NULL,4626,NULL,'This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(24633,'NCBI Gene PubMed Count',NULL,4626,NULL,NULL,NULL,77,NULL,NULL,NULL),(24634,'NCBI Gene Summary',NULL,4627,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(24635,'NCBI Gene PubMed Count',NULL,4627,NULL,NULL,NULL,12,NULL,NULL,NULL),(24636,'NCBI Gene PubMed Count',NULL,4628,NULL,NULL,NULL,8,NULL,NULL,NULL),(24637,'NCBI Gene PubMed Count',NULL,4629,NULL,NULL,NULL,9,NULL,NULL,NULL),(24638,'NCBI Gene Summary',NULL,4630,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24639,'NCBI Gene PubMed Count',NULL,4630,NULL,NULL,NULL,21,NULL,NULL,NULL),(24640,'NCBI Gene Summary',NULL,4631,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that is one of the more highly conserved mitochondrial ribosomal proteins among mammals, Drosophila and C. elegans. Splice variants that differ in the 5\' UTR have been found for this gene; all variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q, 4p, 4q, and 20q [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24641,'NCBI Gene PubMed Count',NULL,4631,NULL,NULL,NULL,10,NULL,NULL,NULL),(24642,'NCBI Gene Summary',NULL,4632,NULL,'This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this gene can cause optic atrophy 10, with or without ataxia, cognitive disability, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(24643,'NCBI Gene PubMed Count',NULL,4632,NULL,NULL,NULL,12,NULL,NULL,NULL),(24644,'NCBI Gene PubMed Count',NULL,4633,NULL,NULL,NULL,24,NULL,NULL,NULL),(24645,'NCBI Gene PubMed Count',NULL,4634,NULL,NULL,NULL,10,NULL,NULL,NULL),(24646,'NCBI Gene Summary',NULL,4635,NULL,'The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(24647,'NCBI Gene PubMed Count',NULL,4635,NULL,NULL,NULL,27,NULL,NULL,NULL),(24648,'NCBI Gene PubMed Count',NULL,4636,NULL,NULL,NULL,8,NULL,NULL,NULL),(24649,'NCBI Gene Summary',NULL,4637,NULL,'The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(24650,'NCBI Gene PubMed Count',NULL,4637,NULL,NULL,NULL,43,NULL,NULL,NULL),(24651,'NCBI Gene Summary',NULL,4638,NULL,'This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(24652,'NCBI Gene PubMed Count',NULL,4638,NULL,NULL,NULL,49,NULL,NULL,NULL),(24653,'NCBI Gene Summary',NULL,4639,NULL,'This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24654,'NCBI Gene PubMed Count',NULL,4639,NULL,NULL,NULL,129,NULL,NULL,NULL),(24655,'NCBI Gene Summary',NULL,4640,NULL,'This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(24656,'NCBI Gene PubMed Count',NULL,4640,NULL,NULL,NULL,83,NULL,NULL,NULL),(24657,'NCBI Gene Summary',NULL,4641,NULL,'The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(24658,'NCBI Gene PubMed Count',NULL,4641,NULL,NULL,NULL,22,NULL,NULL,NULL),(24659,'NCBI Gene PubMed Count',NULL,4642,NULL,NULL,NULL,10,NULL,NULL,NULL),(24660,'NCBI Gene Summary',NULL,4643,NULL,'This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24661,'NCBI Gene PubMed Count',NULL,4643,NULL,NULL,NULL,99,NULL,NULL,NULL),(24662,'NCBI Gene PubMed Count',NULL,4644,NULL,NULL,NULL,12,NULL,NULL,NULL),(24663,'NCBI Gene Summary',NULL,4645,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(24664,'NCBI Gene PubMed Count',NULL,4645,NULL,NULL,NULL,17,NULL,NULL,NULL),(24665,'NCBI Gene Summary',NULL,4646,NULL,'This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(24666,'NCBI Gene PubMed Count',NULL,4646,NULL,NULL,NULL,15,NULL,NULL,NULL),(24667,'NCBI Gene Summary',NULL,4647,NULL,'The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein ligase component of the linear ubiquitin chain assembly complex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(24668,'NCBI Gene PubMed Count',NULL,4647,NULL,NULL,NULL,60,NULL,NULL,NULL),(24669,'NCBI Gene Summary',NULL,4648,NULL,'The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(24670,'NCBI Gene PubMed Count',NULL,4648,NULL,NULL,NULL,17,NULL,NULL,NULL),(24671,'NCBI Gene Summary',NULL,4649,NULL,'This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24672,'NCBI Gene PubMed Count',NULL,4649,NULL,NULL,NULL,47,NULL,NULL,NULL),(24673,'NCBI Gene Summary',NULL,4650,NULL,'Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein L40 at the C terminus, a C-terminal extension protein (CEP). Multiple processed pseudogenes derived from this gene are present in the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24674,'NCBI Gene PubMed Count',NULL,4650,NULL,NULL,NULL,57,NULL,NULL,NULL),(24675,'NCBI Gene Summary',NULL,4651,NULL,'This nuclear gene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene are found on chromosomes 5 and 12. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(24676,'NCBI Gene PubMed Count',NULL,4651,NULL,NULL,NULL,22,NULL,NULL,NULL),(24677,'NCBI Gene Summary',NULL,4652,NULL,'This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(24678,'NCBI Gene PubMed Count',NULL,4652,NULL,NULL,NULL,18,NULL,NULL,NULL),(24679,'NCBI Gene Summary',NULL,4653,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24680,'NCBI Gene PubMed Count',NULL,4653,NULL,NULL,NULL,15,NULL,NULL,NULL),(24681,'NCBI Gene Summary',NULL,4654,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24682,'NCBI Gene PubMed Count',NULL,4654,NULL,NULL,NULL,20,NULL,NULL,NULL),(24683,'NCBI Gene Summary',NULL,4655,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24684,'NCBI Gene PubMed Count',NULL,4655,NULL,NULL,NULL,13,NULL,NULL,NULL),(24685,'NCBI Gene Summary',NULL,4656,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(24686,'NCBI Gene PubMed Count',NULL,4656,NULL,NULL,NULL,17,NULL,NULL,NULL),(24687,'NCBI Gene PubMed Count',NULL,4657,NULL,NULL,NULL,15,NULL,NULL,NULL),(24688,'NCBI Gene PubMed Count',NULL,4658,NULL,NULL,NULL,11,NULL,NULL,NULL),(24689,'NCBI Gene Summary',NULL,4659,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24690,'NCBI Gene PubMed Count',NULL,4659,NULL,NULL,NULL,18,NULL,NULL,NULL),(24691,'NCBI Gene Summary',NULL,4660,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24692,'NCBI Gene PubMed Count',NULL,4660,NULL,NULL,NULL,18,NULL,NULL,NULL),(24693,'NCBI Gene Summary',NULL,4661,NULL,'The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24694,'NCBI Gene PubMed Count',NULL,4661,NULL,NULL,NULL,10,NULL,NULL,NULL),(24695,'NCBI Gene Summary',NULL,4662,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(24696,'NCBI Gene PubMed Count',NULL,4662,NULL,NULL,NULL,12,NULL,NULL,NULL),(24697,'NCBI Gene PubMed Count',NULL,4663,NULL,NULL,NULL,10,NULL,NULL,NULL),(24698,'NCBI Gene Summary',NULL,4664,NULL,'The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene has no intron. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24699,'NCBI Gene PubMed Count',NULL,4664,NULL,NULL,NULL,11,NULL,NULL,NULL),(24700,'NCBI Gene PubMed Count',NULL,4665,NULL,NULL,NULL,5,NULL,NULL,NULL),(24701,'NCBI Gene PubMed Count',NULL,4666,NULL,NULL,NULL,3,NULL,NULL,NULL),(24702,'NCBI Gene Summary',NULL,4667,NULL,'The protein encoded by this intronless gene contains a C3HC5 type of RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The expression of this gene was found to be upregulated in cancer cell lines derived from different types of cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24703,'NCBI Gene PubMed Count',NULL,4667,NULL,NULL,NULL,10,NULL,NULL,NULL),(24704,'NCBI Gene Summary',NULL,4668,NULL,'The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(24705,'NCBI Gene PubMed Count',NULL,4668,NULL,NULL,NULL,16,NULL,NULL,NULL),(24706,'NCBI Gene Summary',NULL,4669,NULL,'This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(24707,'NCBI Gene PubMed Count',NULL,4669,NULL,NULL,NULL,13,NULL,NULL,NULL),(24708,'NCBI Gene Summary',NULL,4670,NULL,'The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24709,'NCBI Gene PubMed Count',NULL,4670,NULL,NULL,NULL,15,NULL,NULL,NULL),(24710,'NCBI Gene PubMed Count',NULL,4671,NULL,NULL,NULL,4,NULL,NULL,NULL),(24711,'NCBI Gene Summary',NULL,4672,NULL,'The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Six alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(24712,'NCBI Gene PubMed Count',NULL,4672,NULL,NULL,NULL,22,NULL,NULL,NULL),(24713,'NCBI Gene Summary',NULL,4673,NULL,'This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(24714,'NCBI Gene PubMed Count',NULL,4673,NULL,NULL,NULL,7,NULL,NULL,NULL),(24715,'NCBI Gene Summary',NULL,4674,NULL,'Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24716,'NCBI Gene PubMed Count',NULL,4674,NULL,NULL,NULL,66,NULL,NULL,NULL),(24717,'NCBI Gene Summary',NULL,4675,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L1 ribosomal protein family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24718,'NCBI Gene PubMed Count',NULL,4675,NULL,NULL,NULL,18,NULL,NULL,NULL),(24719,'NCBI Gene Summary',NULL,4676,NULL,'This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(24720,'NCBI Gene PubMed Count',NULL,4676,NULL,NULL,NULL,16,NULL,NULL,NULL),(24721,'NCBI Gene Summary',NULL,4677,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24722,'NCBI Gene PubMed Count',NULL,4677,NULL,NULL,NULL,13,NULL,NULL,NULL),(24723,'NCBI Gene Summary',NULL,4678,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24724,'NCBI Gene PubMed Count',NULL,4678,NULL,NULL,NULL,13,NULL,NULL,NULL),(24725,'NCBI Gene Summary',NULL,4679,NULL,'RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24726,'NCBI Gene PubMed Count',NULL,4679,NULL,NULL,NULL,35,NULL,NULL,NULL),(24727,'NCBI Gene PubMed Count',NULL,4680,NULL,NULL,NULL,6,NULL,NULL,NULL),(24728,'NCBI Gene Summary',NULL,4681,NULL,'This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24729,'NCBI Gene PubMed Count',NULL,4681,NULL,NULL,NULL,9,NULL,NULL,NULL),(24730,'NCBI Gene PubMed Count',NULL,4682,NULL,NULL,NULL,7,NULL,NULL,NULL),(24731,'NCBI Gene Summary',NULL,4683,NULL,'RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(24732,'NCBI Gene PubMed Count',NULL,4683,NULL,NULL,NULL,14,NULL,NULL,NULL),(24733,'NCBI Gene PubMed Count',NULL,4684,NULL,NULL,NULL,10,NULL,NULL,NULL),(24734,'NCBI Gene PubMed Count',NULL,4685,NULL,NULL,NULL,10,NULL,NULL,NULL),(24735,'NCBI Gene PubMed Count',NULL,4686,NULL,NULL,NULL,13,NULL,NULL,NULL),(24736,'NCBI Gene Summary',NULL,4687,NULL,'The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24737,'NCBI Gene PubMed Count',NULL,4687,NULL,NULL,NULL,19,NULL,NULL,NULL),(24738,'NCBI Gene Summary',NULL,4688,NULL,'This gene encodes a protein that belongs to the Rho GTPase family. Members of this family regulate the organization of the actin cytoskeleton in response to extracellular growth factors. A similar protein in rat interacts with a microtubule regulator to control axon extension. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(24739,'NCBI Gene PubMed Count',NULL,4688,NULL,NULL,NULL,29,NULL,NULL,NULL),(24740,'NCBI Gene Summary',NULL,4689,NULL,'This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24741,'NCBI Gene PubMed Count',NULL,4689,NULL,NULL,NULL,18,NULL,NULL,NULL),(24742,'NCBI Gene PubMed Count',NULL,4690,NULL,NULL,NULL,7,NULL,NULL,NULL),(24743,'NCBI Gene Summary',NULL,4691,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P2. The P1 protein can interact with P0 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Two alternatively spliced transcript variants that encode different proteins have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24744,'NCBI Gene PubMed Count',NULL,4691,NULL,NULL,NULL,37,NULL,NULL,NULL),(24745,'NCBI Gene PubMed Count',NULL,4692,NULL,NULL,NULL,3,NULL,NULL,NULL),(24746,'NCBI Gene PubMed Count',NULL,4693,NULL,NULL,NULL,9,NULL,NULL,NULL),(24747,'NCBI Gene PubMed Count',NULL,4694,NULL,NULL,NULL,10,NULL,NULL,NULL),(24748,'NCBI Gene Summary',NULL,4695,NULL,'This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5\' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(24749,'NCBI Gene PubMed Count',NULL,4695,NULL,NULL,NULL,7,NULL,NULL,NULL),(24750,'NCBI Gene PubMed Count',NULL,4696,NULL,NULL,NULL,3,NULL,NULL,NULL),(24751,'NCBI Gene PubMed Count',NULL,4697,NULL,NULL,NULL,14,NULL,NULL,NULL),(24752,'NCBI Gene PubMed Count',NULL,4698,NULL,NULL,NULL,2,NULL,NULL,NULL),(24753,'NCBI Gene Summary',NULL,4699,NULL,'This gene encodes member of the prefoldin family of molecular chaperones. The encoded protein functions as a scaffolding protein and plays roles in ubiquitination and transcription, in part though interactions with the RNA polymerase II subunit RPB5. This gene may play a role in multiple malignancies including ovarian cancer and hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 22. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(24754,'NCBI Gene PubMed Count',NULL,4699,NULL,NULL,NULL,35,NULL,NULL,NULL),(24755,'NCBI Gene Summary',NULL,4700,NULL,'The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24756,'NCBI Gene PubMed Count',NULL,4700,NULL,NULL,NULL,22,NULL,NULL,NULL),(24757,'NCBI Gene Summary',NULL,4701,NULL,'This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(24758,'NCBI Gene PubMed Count',NULL,4701,NULL,NULL,NULL,54,NULL,NULL,NULL),(24759,'NCBI Gene Summary',NULL,4702,NULL,'This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(24760,'NCBI Gene PubMed Count',NULL,4702,NULL,NULL,NULL,62,NULL,NULL,NULL),(24761,'NCBI Gene PubMed Count',NULL,4703,NULL,NULL,NULL,6,NULL,NULL,NULL),(24762,'NCBI Gene Summary',NULL,4704,NULL,'The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24763,'NCBI Gene PubMed Count',NULL,4704,NULL,NULL,NULL,16,NULL,NULL,NULL),(24764,'NCBI Gene Summary',NULL,4705,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants that encode two different isoforms. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(24765,'NCBI Gene PubMed Count',NULL,4705,NULL,NULL,NULL,22,NULL,NULL,NULL),(24766,'NCBI Gene Summary',NULL,4706,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24767,'NCBI Gene PubMed Count',NULL,4706,NULL,NULL,NULL,13,NULL,NULL,NULL),(24768,'NCBI Gene Summary',NULL,4707,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24769,'NCBI Gene PubMed Count',NULL,4707,NULL,NULL,NULL,13,NULL,NULL,NULL),(24770,'NCBI Gene Summary',NULL,4708,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24771,'NCBI Gene PubMed Count',NULL,4708,NULL,NULL,NULL,10,NULL,NULL,NULL),(24772,'NCBI Gene Summary',NULL,4709,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24773,'NCBI Gene PubMed Count',NULL,4709,NULL,NULL,NULL,12,NULL,NULL,NULL),(24774,'NCBI Gene PubMed Count',NULL,4710,NULL,NULL,NULL,24,NULL,NULL,NULL),(24775,'NCBI Gene Summary',NULL,4711,NULL,'The protein encoded by this gene is a non-secretory ribonuclease that belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein antimicrobial activity against viruses. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(24776,'NCBI Gene PubMed Count',NULL,4711,NULL,NULL,NULL,62,NULL,NULL,NULL),(24777,'NCBI Gene Summary',NULL,4712,NULL,'This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(24778,'NCBI Gene PubMed Count',NULL,4712,NULL,NULL,NULL,22,NULL,NULL,NULL),(24779,'NCBI Gene PubMed Count',NULL,4713,NULL,NULL,NULL,1,NULL,NULL,NULL),(24780,'NCBI Gene Summary',NULL,4714,NULL,'This gene encodes a member of the Rho GTPase family, whose members play a key role in the regulation of actin cytoskeleton organization in response to extracellular growth factors. This particular family member has been implicated in the regulation of neuronal morphology and endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the breast-ovarian cancer susceptibility gene BRCA1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24781,'NCBI Gene PubMed Count',NULL,4714,NULL,NULL,NULL,19,NULL,NULL,NULL),(24782,'NCBI Gene Summary',NULL,4715,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(24783,'NCBI Gene PubMed Count',NULL,4715,NULL,NULL,NULL,22,NULL,NULL,NULL),(24784,'NCBI Gene Summary',NULL,4716,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(24785,'NCBI Gene PubMed Count',NULL,4716,NULL,NULL,NULL,23,NULL,NULL,NULL),(24786,'NCBI Gene PubMed Count',NULL,4717,NULL,NULL,NULL,29,NULL,NULL,NULL),(24787,'NCBI Gene Summary',NULL,4718,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24788,'NCBI Gene PubMed Count',NULL,4718,NULL,NULL,NULL,17,NULL,NULL,NULL),(24789,'NCBI Gene Summary',NULL,4719,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 2p. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24790,'NCBI Gene PubMed Count',NULL,4719,NULL,NULL,NULL,12,NULL,NULL,NULL),(24791,'NCBI Gene Summary',NULL,4720,NULL,'The protein encoded by this gene belongs to the pancreatic ribonuclease family. It plays an important role in mRNA cleavage and has marked specificity towards the 3\' side of uridine nucleotides. Alternative splicing results in four transcript variants encoding the same protein. This gene and the gene that encodes angiogenin share promoters and 5\' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(24792,'NCBI Gene PubMed Count',NULL,4720,NULL,NULL,NULL,18,NULL,NULL,NULL),(24793,'NCBI Gene Summary',NULL,4721,NULL,'This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(24794,'NCBI Gene PubMed Count',NULL,4721,NULL,NULL,NULL,10,NULL,NULL,NULL),(24795,'NCBI Gene PubMed Count',NULL,4722,NULL,NULL,NULL,12,NULL,NULL,NULL),(24796,'NCBI Gene Summary',NULL,4723,NULL,'The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24797,'NCBI Gene PubMed Count',NULL,4723,NULL,NULL,NULL,24,NULL,NULL,NULL),(24798,'NCBI Gene Summary',NULL,4724,NULL,'The protein encoded by this gene contains a RING finger motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjugating enzymes (E2s) and is a substrate for E2-dependent ubiquitination. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24799,'NCBI Gene PubMed Count',NULL,4724,NULL,NULL,NULL,11,NULL,NULL,NULL),(24800,'NCBI Gene Summary',NULL,4725,NULL,'This gene encodes a protein which is a member of the small GTPase protein superfamily. The encoded protein binds only GTP but has no GTPase activity, and appears to act as a negative regulator of cytoskeletal organization leading to loss of adhesion. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(24801,'NCBI Gene PubMed Count',NULL,4725,NULL,NULL,NULL,64,NULL,NULL,NULL),(24802,'NCBI Gene Summary',NULL,4726,NULL,'This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(24803,'NCBI Gene PubMed Count',NULL,4726,NULL,NULL,NULL,49,NULL,NULL,NULL),(24804,'NCBI Gene Summary',NULL,4727,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24805,'NCBI Gene PubMed Count',NULL,4727,NULL,NULL,NULL,42,NULL,NULL,NULL),(24806,'NCBI Gene Summary',NULL,4728,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24807,'NCBI Gene PubMed Count',NULL,4728,NULL,NULL,NULL,18,NULL,NULL,NULL),(24808,'NCBI Gene Summary',NULL,4729,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein, a part of which was originally isolated by its ability to recognize tyrosinase in an HLA-A24-restricted fashion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24809,'NCBI Gene PubMed Count',NULL,4729,NULL,NULL,NULL,21,NULL,NULL,NULL),(24810,'NCBI Gene Summary',NULL,4730,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 1p. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24811,'NCBI Gene PubMed Count',NULL,4730,NULL,NULL,NULL,10,NULL,NULL,NULL),(24812,'NCBI Gene Summary',NULL,4731,NULL,'RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(24813,'NCBI Gene PubMed Count',NULL,4731,NULL,NULL,NULL,16,NULL,NULL,NULL),(24814,'NCBI Gene Summary',NULL,4732,NULL,'The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(24815,'NCBI Gene PubMed Count',NULL,4732,NULL,NULL,NULL,46,NULL,NULL,NULL),(24816,'NCBI Gene PubMed Count',NULL,4733,NULL,NULL,NULL,17,NULL,NULL,NULL),(24817,'NCBI Gene Summary',NULL,4734,NULL,'The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein is expressed prominently in the placenta and exhibits antimicrobial activity against pathogenic bacteria and fungi. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(24818,'NCBI Gene PubMed Count',NULL,4734,NULL,NULL,NULL,6,NULL,NULL,NULL),(24819,'NCBI Gene Summary',NULL,4735,NULL,'The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(24820,'NCBI Gene PubMed Count',NULL,4735,NULL,NULL,NULL,28,NULL,NULL,NULL),(24821,'NCBI Gene Summary',NULL,4736,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30P family of ribosomal proteins. It contains an N-terminal basic region-leucine zipper (BZIP)-like domain and the RNP consensus submotif RNP2. In vitro the BZIP-like domain mediates homodimerization and stable binding to DNA and RNA, with a preference for 28S rRNA and mRNA. The protein can inhibit cell-free translation of mRNAs, suggesting that it plays a regulatory role in the translation apparatus. It is located in the cytoplasm. The protein has been shown to be an autoantigen in patients with systemic autoimmune diseases, such as systemic lupus erythematosus. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24822,'NCBI Gene PubMed Count',NULL,4736,NULL,NULL,NULL,40,NULL,NULL,NULL),(24823,'NCBI Gene Summary',NULL,4737,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L2P family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein associates with the 5.8S rRNA, very likely participates in the binding of aminoacyl-tRNA, and is a constituent of the elongation factor 2-binding site at the ribosomal subunit interface. Alternatively spliced transcript variants encoding the same protein exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24824,'NCBI Gene PubMed Count',NULL,4737,NULL,NULL,NULL,28,NULL,NULL,NULL),(24825,'NCBI Gene Summary',NULL,4738,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24826,'NCBI Gene PubMed Count',NULL,4738,NULL,NULL,NULL,19,NULL,NULL,NULL),(24827,'NCBI Gene Summary',NULL,4739,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24828,'NCBI Gene PubMed Count',NULL,4739,NULL,NULL,NULL,21,NULL,NULL,NULL),(24829,'NCBI Gene Summary',NULL,4740,NULL,'This nuclear gene encodes a protein component of the 39S subunit of the mitochondrial ribosome. A pseudogene of this gene is found on chromosome 17. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(24830,'NCBI Gene PubMed Count',NULL,4740,NULL,NULL,NULL,17,NULL,NULL,NULL),(24831,'NCBI Gene Summary',NULL,4741,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the YmL27 ribosomal protein family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24832,'NCBI Gene PubMed Count',NULL,4741,NULL,NULL,NULL,21,NULL,NULL,NULL),(24833,'NCBI Gene Summary',NULL,4742,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24834,'NCBI Gene PubMed Count',NULL,4742,NULL,NULL,NULL,20,NULL,NULL,NULL),(24835,'NCBI Gene Summary',NULL,4743,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24836,'NCBI Gene PubMed Count',NULL,4743,NULL,NULL,NULL,13,NULL,NULL,NULL),(24837,'NCBI Gene Summary',NULL,4744,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24838,'NCBI Gene PubMed Count',NULL,4744,NULL,NULL,NULL,17,NULL,NULL,NULL),(24839,'NCBI Gene Summary',NULL,4745,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belongs to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24840,'NCBI Gene PubMed Count',NULL,4745,NULL,NULL,NULL,58,NULL,NULL,NULL),(24841,'NCBI Gene Summary',NULL,4746,NULL,'The protein encoded by this gene is a member of the ribonuclease A superfamily and functions in the urinary tract. The protein has broad-spectrum antimicrobial activity against pathogenic bacteria. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(24842,'NCBI Gene PubMed Count',NULL,4746,NULL,NULL,NULL,12,NULL,NULL,NULL),(24843,'NCBI Gene PubMed Count',NULL,4747,NULL,NULL,NULL,5,NULL,NULL,NULL),(24844,'NCBI Gene Summary',NULL,4748,NULL,'The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Several alternatively spliced transcript variants have been noted for this gene, however, not all are likely to encode viable protein products. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(24845,'NCBI Gene PubMed Count',NULL,4748,NULL,NULL,NULL,10,NULL,NULL,NULL),(24846,'NCBI Gene Summary',NULL,4749,NULL,'This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24847,'NCBI Gene PubMed Count',NULL,4749,NULL,NULL,NULL,12,NULL,NULL,NULL),(24848,'NCBI Gene PubMed Count',NULL,4750,NULL,NULL,NULL,7,NULL,NULL,NULL),(24849,'NCBI Gene Summary',NULL,4751,NULL,'This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind RNAs, followed by a glycine-rich C-terminus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24850,'NCBI Gene PubMed Count',NULL,4751,NULL,NULL,NULL,22,NULL,NULL,NULL),(24851,'NCBI Gene PubMed Count',NULL,4752,NULL,NULL,NULL,14,NULL,NULL,NULL),(24852,'NCBI Gene Summary',NULL,4753,NULL,'This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24853,'NCBI Gene PubMed Count',NULL,4753,NULL,NULL,NULL,8,NULL,NULL,NULL),(24854,'NCBI Gene Summary',NULL,4754,NULL,'This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3\' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24855,'NCBI Gene PubMed Count',NULL,4754,NULL,NULL,NULL,10,NULL,NULL,NULL),(24856,'NCBI Gene Summary',NULL,4755,NULL,'This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24857,'NCBI Gene PubMed Count',NULL,4755,NULL,NULL,NULL,81,NULL,NULL,NULL),(24858,'NCBI Gene Summary',NULL,4756,NULL,'The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(24859,'NCBI Gene PubMed Count',NULL,4756,NULL,NULL,NULL,21,NULL,NULL,NULL),(24860,'NCBI Gene PubMed Count',NULL,4757,NULL,NULL,NULL,19,NULL,NULL,NULL),(24861,'NCBI Gene Summary',NULL,4758,NULL,'This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(24862,'NCBI Gene PubMed Count',NULL,4758,NULL,NULL,NULL,98,NULL,NULL,NULL),(24863,'NCBI Gene Summary',NULL,4759,NULL,'This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(24864,'NCBI Gene PubMed Count',NULL,4759,NULL,NULL,NULL,13,NULL,NULL,NULL),(24865,'NCBI Gene PubMed Count',NULL,4760,NULL,NULL,NULL,5,NULL,NULL,NULL),(24866,'NCBI Gene Summary',NULL,4761,NULL,'This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24867,'NCBI Gene PubMed Count',NULL,4761,NULL,NULL,NULL,111,NULL,NULL,NULL),(24868,'NCBI Gene PubMed Count',NULL,4762,NULL,NULL,NULL,45,NULL,NULL,NULL),(24869,'NCBI Gene Summary',NULL,4763,NULL,'This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(24870,'NCBI Gene PubMed Count',NULL,4763,NULL,NULL,NULL,15,NULL,NULL,NULL),(24871,'NCBI Gene Summary',NULL,4764,NULL,'The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(24872,'NCBI Gene PubMed Count',NULL,4764,NULL,NULL,NULL,139,NULL,NULL,NULL),(24873,'NCBI Gene PubMed Count',NULL,4765,NULL,NULL,NULL,8,NULL,NULL,NULL),(24874,'NCBI Gene Summary',NULL,4766,NULL,'The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(24875,'NCBI Gene PubMed Count',NULL,4766,NULL,NULL,NULL,29,NULL,NULL,NULL),(24876,'NCBI Gene PubMed Count',NULL,4767,NULL,NULL,NULL,14,NULL,NULL,NULL),(24877,'NCBI Gene Summary',NULL,4768,NULL,'Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24878,'NCBI Gene PubMed Count',NULL,4768,NULL,NULL,NULL,30,NULL,NULL,NULL),(24879,'NCBI Gene PubMed Count',NULL,4769,NULL,NULL,NULL,21,NULL,NULL,NULL),(24880,'NCBI Gene PubMed Count',NULL,4770,NULL,NULL,NULL,23,NULL,NULL,NULL),(24881,'NCBI Gene Summary',NULL,4771,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24882,'NCBI Gene PubMed Count',NULL,4771,NULL,NULL,NULL,14,NULL,NULL,NULL),(24883,'NCBI Gene PubMed Count',NULL,4772,NULL,NULL,NULL,27,NULL,NULL,NULL),(24884,'NCBI Gene PubMed Count',NULL,4773,NULL,NULL,NULL,11,NULL,NULL,NULL),(24885,'NCBI Gene PubMed Count',NULL,4774,NULL,NULL,NULL,0,NULL,NULL,NULL),(24886,'NCBI Gene PubMed Count',NULL,4775,NULL,NULL,NULL,4,NULL,NULL,NULL),(24887,'NCBI Gene Summary',NULL,4776,NULL,'The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. The protein is a ubiquitin ligase that functions in the endoplasmic reticulum-associated degradation pathway. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream CHMP3 (charged multivesicular body protein 3) gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(24888,'NCBI Gene PubMed Count',NULL,4776,NULL,NULL,NULL,13,NULL,NULL,NULL),(24889,'NCBI Gene Summary',NULL,4777,NULL,'This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24890,'NCBI Gene PubMed Count',NULL,4777,NULL,NULL,NULL,29,NULL,NULL,NULL),(24891,'NCBI Gene Summary',NULL,4778,NULL,'The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(24892,'NCBI Gene PubMed Count',NULL,4778,NULL,NULL,NULL,31,NULL,NULL,NULL),(24893,'NCBI Gene PubMed Count',NULL,4779,NULL,NULL,NULL,6,NULL,NULL,NULL),(24894,'NCBI Gene Summary',NULL,4780,NULL,'This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3\' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24895,'NCBI Gene PubMed Count',NULL,4780,NULL,NULL,NULL,9,NULL,NULL,NULL),(24896,'NCBI Gene Summary',NULL,4781,NULL,'Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(24897,'NCBI Gene PubMed Count',NULL,4781,NULL,NULL,NULL,103,NULL,NULL,NULL),(24898,'NCBI Gene Summary',NULL,4782,NULL,'The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24899,'NCBI Gene PubMed Count',NULL,4782,NULL,NULL,NULL,1026,NULL,NULL,NULL),(24900,'NCBI Gene PubMed Count',NULL,4783,NULL,NULL,NULL,21,NULL,NULL,NULL),(24901,'NCBI Gene PubMed Count',NULL,4784,NULL,NULL,NULL,21,NULL,NULL,NULL),(24902,'NCBI Gene Summary',NULL,4785,NULL,'The protein encoded by this gene is the putative homolog of the yeast ribosomal RNA processing protein RRP1. The encoded protein is involved in the late stages of nucleologenesis at the end of mitosis, and may be required for the generation of 28S rRNA. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24903,'NCBI Gene PubMed Count',NULL,4785,NULL,NULL,NULL,19,NULL,NULL,NULL),(24904,'NCBI Gene Summary',NULL,4786,NULL,'This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxidative stress. Proteolytic processing of the encoded protein results in the formation of two distinct homotetramers that differ in their ability to interact with the extracellular matrix (ECM). Homotetramers consisting of the intact protein, or type C subunit, exhibit high affinity for heparin and are anchored to the ECM. Homotetramers consisting of a proteolytically cleaved form of the protein, or type A subunit, exhibit low affinity for heparin and do not interact with the ECM. A mutation in this gene may be associated with increased heart disease risk. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(24905,'NCBI Gene PubMed Count',NULL,4786,NULL,NULL,NULL,182,NULL,NULL,NULL),(24906,'NCBI Gene PubMed Count',NULL,4787,NULL,NULL,NULL,3,NULL,NULL,NULL),(24907,'NCBI Gene Summary',NULL,4788,NULL,'This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(24908,'NCBI Gene PubMed Count',NULL,4788,NULL,NULL,NULL,376,NULL,NULL,NULL),(24909,'NCBI Gene Summary',NULL,4790,NULL,'This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(24910,'NCBI Gene PubMed Count',NULL,4790,NULL,NULL,NULL,24,NULL,NULL,NULL),(24911,'NCBI Gene Summary',NULL,4791,NULL,'The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(24912,'NCBI Gene PubMed Count',NULL,4791,NULL,NULL,NULL,30,NULL,NULL,NULL),(24913,'NCBI Gene PubMed Count',NULL,4792,NULL,NULL,NULL,20,NULL,NULL,NULL),(24914,'NCBI Gene Summary',NULL,4793,NULL,'This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24915,'NCBI Gene PubMed Count',NULL,4793,NULL,NULL,NULL,128,NULL,NULL,NULL),(24916,'NCBI Gene PubMed Count',NULL,4794,NULL,NULL,NULL,147,NULL,NULL,NULL),(24917,'NCBI Gene PubMed Count',NULL,4795,NULL,NULL,NULL,5,NULL,NULL,NULL),(24918,'NCBI Gene Summary',NULL,4796,NULL,'SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(24919,'NCBI Gene PubMed Count',NULL,4796,NULL,NULL,NULL,24,NULL,NULL,NULL),(24920,'NCBI Gene Summary',NULL,4797,NULL,'This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24921,'NCBI Gene PubMed Count',NULL,4797,NULL,NULL,NULL,89,NULL,NULL,NULL),(24922,'NCBI Gene Summary',NULL,4798,NULL,'The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(24923,'NCBI Gene PubMed Count',NULL,4798,NULL,NULL,NULL,31,NULL,NULL,NULL),(24924,'NCBI Gene Summary',NULL,4799,NULL,'This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(24925,'NCBI Gene PubMed Count',NULL,4799,NULL,NULL,NULL,12,NULL,NULL,NULL),(24926,'NCBI Gene Summary',NULL,4800,NULL,'This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(24927,'NCBI Gene PubMed Count',NULL,4800,NULL,NULL,NULL,128,NULL,NULL,NULL),(24928,'NCBI Gene Summary',NULL,4801,NULL,'CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(24929,'NCBI Gene PubMed Count',NULL,4801,NULL,NULL,NULL,17,NULL,NULL,NULL),(24930,'NCBI Gene PubMed Count',NULL,4802,NULL,NULL,NULL,18,NULL,NULL,NULL),(24931,'NCBI Gene PubMed Count',NULL,4803,NULL,NULL,NULL,25,NULL,NULL,NULL),(24932,'NCBI Gene Summary',NULL,4804,NULL,'The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(24933,'NCBI Gene PubMed Count',NULL,4804,NULL,NULL,NULL,34,NULL,NULL,NULL),(24934,'NCBI Gene PubMed Count',NULL,4805,NULL,NULL,NULL,12,NULL,NULL,NULL),(24935,'NCBI Gene PubMed Count',NULL,4806,NULL,NULL,NULL,46,NULL,NULL,NULL),(24936,'NCBI Gene Summary',NULL,4807,NULL,'This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(24937,'NCBI Gene PubMed Count',NULL,4807,NULL,NULL,NULL,60,NULL,NULL,NULL),(24938,'NCBI Gene Summary',NULL,4808,NULL,'This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(24939,'NCBI Gene PubMed Count',NULL,4808,NULL,NULL,NULL,19,NULL,NULL,NULL),(24940,'NCBI Gene Summary',NULL,4809,NULL,'This gene belongs to the \'structural maintenance of chromosomes\' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(24941,'NCBI Gene PubMed Count',NULL,4809,NULL,NULL,NULL,27,NULL,NULL,NULL),(24942,'NCBI Gene PubMed Count',NULL,4810,NULL,NULL,NULL,27,NULL,NULL,NULL),(24943,'NCBI Gene Summary',NULL,4811,NULL,'This gene encodes a protein that co-purifies with human nucleoli. A similar protein in budding yeast is a component of pre-60S ribosomal particles, and is required for the early maturation steps of the 60S subunit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24944,'NCBI Gene PubMed Count',NULL,4811,NULL,NULL,NULL,12,NULL,NULL,NULL),(24945,'NCBI Gene Summary',NULL,4812,NULL,'This gene encodes an enzyme that catalyzes the production of monoselenophosphate (MSP) from selenide and ATP. MSP is the selenium donor required for synthesis of selenocysteine (Sec), which is co-translationally incorporated into selenoproteins at in-frame UGA codons that normally signal translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is itself a selenoprotein containing a Sec residue at its active site, suggesting the existence of an autoregulatory mechanism. It is preferentially expressed in tissues implicated in the synthesis of selenoproteins and in sites of blood cell development. A pseudogene for this locus has been identified on chromosome 5. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(24946,'NCBI Gene PubMed Count',NULL,4812,NULL,NULL,NULL,14,NULL,NULL,NULL),(24947,'NCBI Gene PubMed Count',NULL,4813,NULL,NULL,NULL,19,NULL,NULL,NULL),(24948,'NCBI Gene PubMed Count',NULL,4814,NULL,NULL,NULL,37,NULL,NULL,NULL),(24949,'NCBI Gene Summary',NULL,4815,NULL,'The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24950,'NCBI Gene PubMed Count',NULL,4815,NULL,NULL,NULL,53,NULL,NULL,NULL),(24951,'NCBI Gene Summary',NULL,4816,NULL,'The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 727837, located about 45 kb downstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(24952,'NCBI Gene PubMed Count',NULL,4816,NULL,NULL,NULL,47,NULL,NULL,NULL),(24953,'NCBI Gene Summary',NULL,4817,NULL,'The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4B, represents the more centromeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24954,'NCBI Gene PubMed Count',NULL,4817,NULL,NULL,NULL,13,NULL,NULL,NULL),(24955,'NCBI Gene Summary',NULL,4818,NULL,'The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(24956,'NCBI Gene PubMed Count',NULL,4818,NULL,NULL,NULL,16,NULL,NULL,NULL),(24957,'NCBI Gene Summary',NULL,4819,NULL,'This gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene is classified as a pseudogene because a splice donor in the 3\' UTR has changed compared to other family members, rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(24958,'NCBI Gene PubMed Count',NULL,4819,NULL,NULL,NULL,6,NULL,NULL,NULL),(24959,'NCBI Gene Summary',NULL,4820,NULL,'The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24960,'NCBI Gene PubMed Count',NULL,4820,NULL,NULL,NULL,4,NULL,NULL,NULL),(24961,'NCBI Gene PubMed Count',NULL,4821,NULL,NULL,NULL,3,NULL,NULL,NULL),(24962,'NCBI Gene Summary',NULL,4822,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(24963,'NCBI Gene PubMed Count',NULL,4822,NULL,NULL,NULL,4,NULL,NULL,NULL),(24964,'NCBI Gene Summary',NULL,4823,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(24965,'NCBI Gene PubMed Count',NULL,4823,NULL,NULL,NULL,1,NULL,NULL,NULL),(24966,'NCBI Gene Summary',NULL,4824,NULL,'Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24967,'NCBI Gene PubMed Count',NULL,4824,NULL,NULL,NULL,30,NULL,NULL,NULL),(24968,'NCBI Gene PubMed Count',NULL,4825,NULL,NULL,NULL,6,NULL,NULL,NULL),(24969,'NCBI Gene Summary',NULL,4826,NULL,'Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24970,'NCBI Gene PubMed Count',NULL,4826,NULL,NULL,NULL,14,NULL,NULL,NULL),(24971,'NCBI Gene Summary',NULL,4827,NULL,'This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24972,'NCBI Gene PubMed Count',NULL,4827,NULL,NULL,NULL,16,NULL,NULL,NULL),(24973,'NCBI Gene Summary',NULL,4828,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(24974,'NCBI Gene PubMed Count',NULL,4828,NULL,NULL,NULL,6,NULL,NULL,NULL),(24975,'NCBI Gene PubMed Count',NULL,4829,NULL,NULL,NULL,3,NULL,NULL,NULL),(24976,'NCBI Gene PubMed Count',NULL,4830,NULL,NULL,NULL,7,NULL,NULL,NULL),(24977,'NCBI Gene Summary',NULL,4831,NULL,'Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity.  Multiple alternatively spliced variants that encode two isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24978,'NCBI Gene PubMed Count',NULL,4831,NULL,NULL,NULL,221,NULL,NULL,NULL),(24979,'NCBI Gene Summary',NULL,4832,NULL,'The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24980,'NCBI Gene PubMed Count',NULL,4832,NULL,NULL,NULL,30,NULL,NULL,NULL),(24981,'NCBI Gene PubMed Count',NULL,4833,NULL,NULL,NULL,26,NULL,NULL,NULL),(24982,'NCBI Gene PubMed Count',NULL,4834,NULL,NULL,NULL,5,NULL,NULL,NULL),(24983,'NCBI Gene PubMed Count',NULL,4835,NULL,NULL,NULL,5,NULL,NULL,NULL),(24984,'NCBI Gene PubMed Count',NULL,4836,NULL,NULL,NULL,20,NULL,NULL,NULL),(24985,'NCBI Gene Summary',NULL,4837,NULL,'This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24986,'NCBI Gene PubMed Count',NULL,4837,NULL,NULL,NULL,39,NULL,NULL,NULL),(24987,'NCBI Gene Summary',NULL,4838,NULL,'This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(24988,'NCBI Gene PubMed Count',NULL,4838,NULL,NULL,NULL,37,NULL,NULL,NULL),(24989,'NCBI Gene Summary',NULL,4839,NULL,'The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(24990,'NCBI Gene PubMed Count',NULL,4839,NULL,NULL,NULL,71,NULL,NULL,NULL),(24991,'NCBI Gene Summary',NULL,4840,NULL,'The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(24992,'NCBI Gene PubMed Count',NULL,4840,NULL,NULL,NULL,14,NULL,NULL,NULL),(24993,'NCBI Gene Summary',NULL,4841,NULL,'This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(24994,'NCBI Gene PubMed Count',NULL,4841,NULL,NULL,NULL,43,NULL,NULL,NULL),(24995,'NCBI Gene Summary',NULL,4842,NULL,'The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(24996,'NCBI Gene PubMed Count',NULL,4842,NULL,NULL,NULL,24,NULL,NULL,NULL),(24997,'NCBI Gene Summary',NULL,4843,NULL,'The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(24998,'NCBI Gene PubMed Count',NULL,4843,NULL,NULL,NULL,2441,NULL,NULL,NULL),(24999,'NCBI Gene Summary',NULL,4844,NULL,'This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(25000,'NCBI Gene PubMed Count',NULL,4844,NULL,NULL,NULL,36,NULL,NULL,NULL),(25001,'NCBI Gene PubMed Count',NULL,4845,NULL,NULL,NULL,11,NULL,NULL,NULL),(25002,'NCBI Gene Summary',NULL,4846,NULL,'The product of this gene is a member of the GCK group III family of kinases, which are a subset of the Ste20-like kinases. The encoded protein contains an amino-terminal kinase domain, and a carboxy-terminal regulatory domain that mediates homodimerization. The protein kinase localizes to the Golgi apparatus and is specifically activated by binding to the Golgi matrix protein GM130. It is also cleaved by caspase-3 in vitro, and may function in the apoptotic pathway. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25003,'NCBI Gene PubMed Count',NULL,4846,NULL,NULL,NULL,34,NULL,NULL,NULL),(25004,'NCBI Gene Summary',NULL,4847,NULL,'This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25005,'NCBI Gene PubMed Count',NULL,4847,NULL,NULL,NULL,15,NULL,NULL,NULL),(25006,'NCBI Gene Summary',NULL,4848,NULL,'This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(25007,'NCBI Gene PubMed Count',NULL,4848,NULL,NULL,NULL,145,NULL,NULL,NULL),(25008,'NCBI Gene PubMed Count',NULL,4849,NULL,NULL,NULL,4,NULL,NULL,NULL),(25009,'NCBI Gene Summary',NULL,4850,NULL,'This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25010,'NCBI Gene PubMed Count',NULL,4850,NULL,NULL,NULL,23,NULL,NULL,NULL),(25011,'NCBI Gene Summary',NULL,4851,NULL,'The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25012,'NCBI Gene PubMed Count',NULL,4851,NULL,NULL,NULL,224,NULL,NULL,NULL),(25013,'NCBI Gene PubMed Count',NULL,4852,NULL,NULL,NULL,10,NULL,NULL,NULL),(25014,'NCBI Gene PubMed Count',NULL,4853,NULL,NULL,NULL,47,NULL,NULL,NULL),(25015,'NCBI Gene PubMed Count',NULL,4854,NULL,NULL,NULL,22,NULL,NULL,NULL),(25016,'NCBI Gene Summary',NULL,4855,NULL,'This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(25017,'NCBI Gene PubMed Count',NULL,4855,NULL,NULL,NULL,60,NULL,NULL,NULL),(25018,'NCBI Gene Summary',NULL,4856,NULL,'This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory hormone. The human proprotein contains six thyrotropin-releasing hormone tripeptides. Thyrotropin-releasing hormone is involved in the regulation and release of thyroid-stimulating hormone, as well as prolactin. Deficiency of this hormone has been associated with hypothalamic hypothyroidism. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(25019,'NCBI Gene PubMed Count',NULL,4856,NULL,NULL,NULL,52,NULL,NULL,NULL),(25020,'NCBI Gene PubMed Count',NULL,4857,NULL,NULL,NULL,28,NULL,NULL,NULL),(25021,'NCBI Gene PubMed Count',NULL,4858,NULL,NULL,NULL,17,NULL,NULL,NULL),(25022,'NCBI Gene PubMed Count',NULL,4859,NULL,NULL,NULL,4,NULL,NULL,NULL),(25023,'NCBI Gene Summary',NULL,4860,NULL,'This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(25024,'NCBI Gene PubMed Count',NULL,4860,NULL,NULL,NULL,25,NULL,NULL,NULL),(25025,'NCBI Gene Summary',NULL,4861,NULL,'The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(25026,'NCBI Gene PubMed Count',NULL,4861,NULL,NULL,NULL,26,NULL,NULL,NULL),(25027,'NCBI Gene Summary',NULL,4862,NULL,'The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(25028,'NCBI Gene PubMed Count',NULL,4862,NULL,NULL,NULL,27,NULL,NULL,NULL),(25029,'NCBI Gene Summary',NULL,4863,NULL,'This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(25030,'NCBI Gene PubMed Count',NULL,4863,NULL,NULL,NULL,86,NULL,NULL,NULL),(25031,'NCBI Gene Summary',NULL,4864,NULL,'This gene encodes a member of the tripartite motif (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(25032,'NCBI Gene PubMed Count',NULL,4864,NULL,NULL,NULL,7,NULL,NULL,NULL),(25033,'NCBI Gene PubMed Count',NULL,4865,NULL,NULL,NULL,19,NULL,NULL,NULL),(25034,'NCBI Gene Summary',NULL,4866,NULL,'This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25035,'NCBI Gene PubMed Count',NULL,4866,NULL,NULL,NULL,11,NULL,NULL,NULL),(25036,'NCBI Gene PubMed Count',NULL,4867,NULL,NULL,NULL,3,NULL,NULL,NULL),(25037,'NCBI Gene PubMed Count',NULL,4868,NULL,NULL,NULL,10,NULL,NULL,NULL),(25038,'NCBI Gene Summary',NULL,4869,NULL,'The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This gene has been found to be preferentially expressed in testis. Related pseudogenes and gene duplicates have also been identified on chromosome 11. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(25039,'NCBI Gene PubMed Count',NULL,4869,NULL,NULL,NULL,8,NULL,NULL,NULL),(25040,'NCBI Gene Summary',NULL,4870,NULL,'The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25041,'NCBI Gene PubMed Count',NULL,4870,NULL,NULL,NULL,11,NULL,NULL,NULL),(25042,'NCBI Gene PubMed Count',NULL,4871,NULL,NULL,NULL,17,NULL,NULL,NULL),(25043,'NCBI Gene PubMed Count',NULL,4872,NULL,NULL,NULL,17,NULL,NULL,NULL),(25044,'NCBI Gene Summary',NULL,4873,NULL,'The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Pseudogenes of this gene are located on more than six chromosomes including chromosome 4. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(25045,'NCBI Gene PubMed Count',NULL,4873,NULL,NULL,NULL,5,NULL,NULL,NULL),(25046,'NCBI Gene PubMed Count',NULL,4874,NULL,NULL,NULL,13,NULL,NULL,NULL),(25047,'NCBI Gene PubMed Count',NULL,4875,NULL,NULL,NULL,14,NULL,NULL,NULL),(25048,'NCBI Gene PubMed Count',NULL,4876,NULL,NULL,NULL,4,NULL,NULL,NULL),(25049,'NCBI Gene Summary',NULL,4877,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternatively spliced transcript variants that encode different isoforms have been described.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(25050,'NCBI Gene PubMed Count',NULL,4877,NULL,NULL,NULL,13,NULL,NULL,NULL),(25051,'NCBI Gene Summary',NULL,4878,NULL,'The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(25052,'NCBI Gene PubMed Count',NULL,4878,NULL,NULL,NULL,33,NULL,NULL,NULL),(25053,'NCBI Gene PubMed Count',NULL,4879,NULL,NULL,NULL,11,NULL,NULL,NULL),(25054,'NCBI Gene Summary',NULL,4880,NULL,'The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(25055,'NCBI Gene PubMed Count',NULL,4880,NULL,NULL,NULL,75,NULL,NULL,NULL),(25056,'NCBI Gene Summary',NULL,4881,NULL,'This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(25057,'NCBI Gene PubMed Count',NULL,4881,NULL,NULL,NULL,14,NULL,NULL,NULL),(25058,'NCBI Gene Summary',NULL,4882,NULL,'The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(25059,'NCBI Gene PubMed Count',NULL,4882,NULL,NULL,NULL,131,NULL,NULL,NULL),(25060,'NCBI Gene Summary',NULL,4883,NULL,'This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last two amino acids of the carboxy-terminus have been cleaved off. Numerous pseudogenes have been reported for this gene. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25061,'NCBI Gene PubMed Count',NULL,4883,NULL,NULL,NULL,135,NULL,NULL,NULL),(25062,'NCBI Gene PubMed Count',NULL,4884,NULL,NULL,NULL,9,NULL,NULL,NULL),(25063,'NCBI Gene Summary',NULL,4885,NULL,'This gene shares a bidirectional promoter with surfeit 1 (SURF1; GeneID: 6834), which is located on the opposite strand. It encodes a conserved protein that is expressed in a variety of tissues. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(25064,'NCBI Gene PubMed Count',NULL,4885,NULL,NULL,NULL,13,NULL,NULL,NULL),(25065,'NCBI Gene Summary',NULL,4886,NULL,'This gene is a member of the serpin peptidase inhibitor, clade B family and is found in a cluster of other similar genes on chromosome 18. The protein encoded by this gene appears to help control the regulation of protease functions during hematopoiesis. Variations in this gene may increase the risk of prostate cancer. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(25066,'NCBI Gene PubMed Count',NULL,4886,NULL,NULL,NULL,13,NULL,NULL,NULL),(25067,'NCBI Gene PubMed Count',NULL,4887,NULL,NULL,NULL,12,NULL,NULL,NULL),(25068,'NCBI Gene PubMed Count',NULL,4888,NULL,NULL,NULL,2,NULL,NULL,NULL),(25069,'NCBI Gene PubMed Count',NULL,4889,NULL,NULL,NULL,2,NULL,NULL,NULL),(25070,'NCBI Gene Summary',NULL,4890,NULL,'The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(25071,'NCBI Gene PubMed Count',NULL,4890,NULL,NULL,NULL,18,NULL,NULL,NULL),(25072,'NCBI Gene Summary',NULL,4891,NULL,'The protein encoded by this gene is an envelope protein of keratinocytes. The encoded protein is crosslinked to membrane proteins by transglutaminase, forming an insoluble layer under the plasma membrane. This protein is proline-rich and contains several tandem amino acid repeats. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(25073,'NCBI Gene PubMed Count',NULL,4891,NULL,NULL,NULL,24,NULL,NULL,NULL),(25074,'NCBI Gene Summary',NULL,4892,NULL,'This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(25075,'NCBI Gene PubMed Count',NULL,4892,NULL,NULL,NULL,24,NULL,NULL,NULL),(25076,'NCBI Gene PubMed Count',NULL,4893,NULL,NULL,NULL,30,NULL,NULL,NULL),(25077,'NCBI Gene Summary',NULL,4894,NULL,'This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(25078,'NCBI Gene PubMed Count',NULL,4894,NULL,NULL,NULL,43,NULL,NULL,NULL),(25079,'NCBI Gene Summary',NULL,4895,NULL,'This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellectual disability called Snyder-Robinson Syndrome (SRS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(25080,'NCBI Gene PubMed Count',NULL,4895,NULL,NULL,NULL,28,NULL,NULL,NULL),(25081,'NCBI Gene PubMed Count',NULL,4896,NULL,NULL,NULL,12,NULL,NULL,NULL),(25082,'NCBI Gene PubMed Count',NULL,4897,NULL,NULL,NULL,13,NULL,NULL,NULL),(25083,'NCBI Gene PubMed Count',NULL,4898,NULL,NULL,NULL,6,NULL,NULL,NULL),(25084,'NCBI Gene PubMed Count',NULL,4899,NULL,NULL,NULL,5,NULL,NULL,NULL),(25085,'NCBI Gene Summary',NULL,4900,NULL,'Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(25086,'NCBI Gene PubMed Count',NULL,4900,NULL,NULL,NULL,92,NULL,NULL,NULL),(25087,'NCBI Gene Summary',NULL,4901,NULL,'Spectrins are principle components of a cell\'s membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(25088,'NCBI Gene PubMed Count',NULL,4901,NULL,NULL,NULL,43,NULL,NULL,NULL),(25089,'NCBI Gene PubMed Count',NULL,4902,NULL,NULL,NULL,1,NULL,NULL,NULL),(25090,'NCBI Gene PubMed Count',NULL,4903,NULL,NULL,NULL,2,NULL,NULL,NULL),(25091,'NCBI Gene PubMed Count',NULL,4904,NULL,NULL,NULL,75,NULL,NULL,NULL),(25092,'NCBI Gene PubMed Count',NULL,4905,NULL,NULL,NULL,10,NULL,NULL,NULL),(25093,'NCBI Gene Summary',NULL,4906,NULL,'This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. The encoded protein participates in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(25094,'NCBI Gene PubMed Count',NULL,4906,NULL,NULL,NULL,26,NULL,NULL,NULL),(25095,'NCBI Gene PubMed Count',NULL,4907,NULL,NULL,NULL,3,NULL,NULL,NULL),(25096,'NCBI Gene Summary',NULL,4908,NULL,'This gene represents one of several duplicated family members that are located on the X chromosome. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(25097,'NCBI Gene PubMed Count',NULL,4908,NULL,NULL,NULL,3,NULL,NULL,NULL),(25098,'NCBI Gene PubMed Count',NULL,4909,NULL,NULL,NULL,2,NULL,NULL,NULL),(25099,'NCBI Gene PubMed Count',NULL,4910,NULL,NULL,NULL,12,NULL,NULL,NULL),(25100,'NCBI Gene Summary',NULL,4911,NULL,'The protein encoded by this gene was identified in a yeast two-hybrid assay employing the second subunit of human replication protein A as bait. It is localized to the nucleus and its expression is significantly higher in cancer cell lines compared to normal cell lines. This protein has also been shown to be a strong transcriptional co-activator. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25101,'NCBI Gene PubMed Count',NULL,4911,NULL,NULL,NULL,11,NULL,NULL,NULL),(25102,'NCBI Gene Summary',NULL,4912,NULL,'This gene encodes a subunit of a protein complex that interacts with single-stranded DNA and is involved in the DNA damage response and maintenance of genome stability. The encoded protein may also play a role in telomere repair. A variant of this gene may be associated with survival in human glioblastoma patients. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(25103,'NCBI Gene PubMed Count',NULL,4912,NULL,NULL,NULL,24,NULL,NULL,NULL),(25104,'NCBI Gene Summary',NULL,4913,NULL,'This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren\'s syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25105,'NCBI Gene PubMed Count',NULL,4913,NULL,NULL,NULL,15,NULL,NULL,NULL),(25106,'NCBI Gene PubMed Count',NULL,4914,NULL,NULL,NULL,4,NULL,NULL,NULL),(25107,'NCBI Gene Summary',NULL,4915,NULL,'This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25108,'NCBI Gene PubMed Count',NULL,4915,NULL,NULL,NULL,51,NULL,NULL,NULL),(25109,'NCBI Gene Summary',NULL,4916,NULL,'This gene encodes a member of the sulfotransferase family. The encoded protein is a brain-specific sulfotransferase believed to be involved in the metabolism of neurotransmitters. Polymorphisms in this gene may be associated with susceptibility to schizophrenia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25110,'NCBI Gene PubMed Count',NULL,4916,NULL,NULL,NULL,26,NULL,NULL,NULL),(25111,'NCBI Gene Summary',NULL,4917,NULL,'Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25112,'NCBI Gene PubMed Count',NULL,4917,NULL,NULL,NULL,6,NULL,NULL,NULL),(25113,'NCBI Gene PubMed Count',NULL,4918,NULL,NULL,NULL,10,NULL,NULL,NULL),(25114,'NCBI Gene Summary',NULL,4919,NULL,'The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(25115,'NCBI Gene PubMed Count',NULL,4919,NULL,NULL,NULL,15,NULL,NULL,NULL),(25116,'NCBI Gene PubMed Count',NULL,4920,NULL,NULL,NULL,19,NULL,NULL,NULL),(25117,'NCBI Gene Summary',NULL,4921,NULL,'This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(25118,'NCBI Gene PubMed Count',NULL,4921,NULL,NULL,NULL,17,NULL,NULL,NULL),(25119,'NCBI Gene Summary',NULL,4922,NULL,'The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25120,'NCBI Gene PubMed Count',NULL,4922,NULL,NULL,NULL,748,NULL,NULL,NULL),(25121,'NCBI Gene Summary',NULL,4923,NULL,'This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25122,'NCBI Gene PubMed Count',NULL,4923,NULL,NULL,NULL,24,NULL,NULL,NULL),(25123,'NCBI Gene Summary',NULL,4924,NULL,'The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. Transcription adaptor P300/CBP (EP300/CREBBP) has been shown to interact specifically with this protein, which is thought to be involved in the process of blocking IFN-alpha response by adenovirus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(25124,'NCBI Gene PubMed Count',NULL,4924,NULL,NULL,NULL,145,NULL,NULL,NULL),(25125,'NCBI Gene Summary',NULL,4925,NULL,'This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5\' UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25126,'NCBI Gene PubMed Count',NULL,4925,NULL,NULL,NULL,97,NULL,NULL,NULL),(25127,'NCBI Gene Summary',NULL,4926,NULL,'This gene encodes a receptor belonging to the Ig superfamily that is expressed on myeloid cells. This protein amplifies neutrophil and monocyte-mediated inflammatory responses triggered by bacterial and fungal infections by stimulating release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(25128,'NCBI Gene PubMed Count',NULL,4926,NULL,NULL,NULL,167,NULL,NULL,NULL),(25129,'NCBI Gene Summary',NULL,4927,NULL,'This gene is predominantly expressed in prostate tissue, and is found to be upregulated in multiple cancer cell lines. The gene product is predicted to be a six-transmembrane protein, and was shown to be a cell surface antigen significantly expressed at cell-cell junctions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25130,'NCBI Gene PubMed Count',NULL,4927,NULL,NULL,NULL,28,NULL,NULL,NULL),(25131,'NCBI Gene PubMed Count',NULL,4928,NULL,NULL,NULL,29,NULL,NULL,NULL),(25132,'NCBI Gene Summary',NULL,4929,NULL,'This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(25133,'NCBI Gene PubMed Count',NULL,4929,NULL,NULL,NULL,332,NULL,NULL,NULL),(25134,'NCBI Gene Summary',NULL,4930,NULL,'This gene encodes a protein which is a member of the stathmin protein family. Members of this protein family form a complex with tubulins at a ratio of 2 tubulins for each stathmin protein. Microtubules require the ordered assembly of alpha- and beta-tubulins, and formation of a complex with stathmin disrupts microtubule formation and function. A pseudogene of this gene is located on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(25135,'NCBI Gene PubMed Count',NULL,4930,NULL,NULL,NULL,20,NULL,NULL,NULL),(25136,'NCBI Gene PubMed Count',NULL,4931,NULL,NULL,NULL,7,NULL,NULL,NULL),(25137,'NCBI Gene PubMed Count',NULL,4932,NULL,NULL,NULL,7,NULL,NULL,NULL),(25138,'NCBI Gene Summary',NULL,4933,NULL,'This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(25139,'NCBI Gene PubMed Count',NULL,4933,NULL,NULL,NULL,8,NULL,NULL,NULL),(25140,'NCBI Gene Summary',NULL,4934,NULL,'Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(25141,'NCBI Gene PubMed Count',NULL,4934,NULL,NULL,NULL,13,NULL,NULL,NULL),(25142,'NCBI Gene Summary',NULL,4935,NULL,'This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(25143,'NCBI Gene PubMed Count',NULL,4935,NULL,NULL,NULL,21,NULL,NULL,NULL),(25144,'NCBI Gene PubMed Count',NULL,4936,NULL,NULL,NULL,3,NULL,NULL,NULL),(25145,'NCBI Gene PubMed Count',NULL,4937,NULL,NULL,NULL,2,NULL,NULL,NULL),(25146,'NCBI Gene Summary',NULL,4938,NULL,'This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25147,'NCBI Gene PubMed Count',NULL,4938,NULL,NULL,NULL,25,NULL,NULL,NULL),(25148,'NCBI Gene PubMed Count',NULL,4939,NULL,NULL,NULL,3,NULL,NULL,NULL),(25149,'NCBI Gene Summary',NULL,4940,NULL,'This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25150,'NCBI Gene PubMed Count',NULL,4940,NULL,NULL,NULL,16,NULL,NULL,NULL),(25151,'NCBI Gene Summary',NULL,4941,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25152,'NCBI Gene PubMed Count',NULL,4941,NULL,NULL,NULL,28,NULL,NULL,NULL),(25153,'NCBI Gene Summary',NULL,4942,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25154,'NCBI Gene PubMed Count',NULL,4942,NULL,NULL,NULL,67,NULL,NULL,NULL),(25155,'NCBI Gene PubMed Count',NULL,4943,NULL,NULL,NULL,9,NULL,NULL,NULL),(25156,'NCBI Gene Summary',NULL,4944,NULL,'This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Fusion of the N-terminus of this protein with the truncated C-terminus of the RET gene product has been shown to result in production of the ret transforming protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25157,'NCBI Gene PubMed Count',NULL,4944,NULL,NULL,NULL,51,NULL,NULL,NULL),(25158,'NCBI Gene Summary',NULL,4945,NULL,'This gene encodes a protein that functions as an E3 ubiquitin-protein ligase. This gene shows altered expression in certain tumors and may be a negative regulator of cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(25159,'NCBI Gene PubMed Count',NULL,4945,NULL,NULL,NULL,30,NULL,NULL,NULL),(25160,'NCBI Gene PubMed Count',NULL,4946,NULL,NULL,NULL,54,NULL,NULL,NULL),(25161,'NCBI Gene Summary',NULL,4947,NULL,'The protein encoded by this gene is a syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along with syntaxin 13, this protein plays a role in the ordered fusion of endosomes and lysosomes with the phagosome. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(25162,'NCBI Gene PubMed Count',NULL,4947,NULL,NULL,NULL,41,NULL,NULL,NULL),(25163,'NCBI Gene Summary',NULL,4948,NULL,'The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(25164,'NCBI Gene PubMed Count',NULL,4948,NULL,NULL,NULL,28,NULL,NULL,NULL),(25165,'NCBI Gene Summary',NULL,4949,NULL,'This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and might be involved in protein-protein and/or protein-nucleic acid interactions. The gene mutations are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(25166,'NCBI Gene PubMed Count',NULL,4949,NULL,NULL,NULL,40,NULL,NULL,NULL),(25167,'NCBI Gene Summary',NULL,4950,NULL,'This gene encodes a member of the tripartite motif (TRIM) family. The encoded protein contains a RING-type zinc finger, B box-type zinc finger and SPRY domain. The function of this protein has not been identified. A pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(25168,'NCBI Gene PubMed Count',NULL,4950,NULL,NULL,NULL,18,NULL,NULL,NULL),(25169,'NCBI Gene Summary',NULL,4951,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25170,'NCBI Gene PubMed Count',NULL,4951,NULL,NULL,NULL,20,NULL,NULL,NULL),(25171,'NCBI Gene Summary',NULL,4952,NULL,'STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25172,'NCBI Gene PubMed Count',NULL,4952,NULL,NULL,NULL,17,NULL,NULL,NULL),(25173,'NCBI Gene PubMed Count',NULL,4953,NULL,NULL,NULL,8,NULL,NULL,NULL),(25174,'NCBI Gene PubMed Count',NULL,4954,NULL,NULL,NULL,3,NULL,NULL,NULL),(25175,'NCBI Gene PubMed Count',NULL,4955,NULL,NULL,NULL,11,NULL,NULL,NULL),(25176,'NCBI Gene PubMed Count',NULL,4956,NULL,NULL,NULL,3,NULL,NULL,NULL),(25177,'NCBI Gene PubMed Count',NULL,4957,NULL,NULL,NULL,8,NULL,NULL,NULL),(25178,'NCBI Gene Summary',NULL,4958,NULL,'The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25179,'NCBI Gene PubMed Count',NULL,4958,NULL,NULL,NULL,9,NULL,NULL,NULL),(25180,'NCBI Gene Summary',NULL,4959,NULL,'This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(25181,'NCBI Gene PubMed Count',NULL,4959,NULL,NULL,NULL,40,NULL,NULL,NULL),(25182,'NCBI Gene Summary',NULL,4960,NULL,'SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a \'bridge\' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(25183,'NCBI Gene PubMed Count',NULL,4960,NULL,NULL,NULL,50,NULL,NULL,NULL),(25184,'NCBI Gene Summary',NULL,4961,NULL,'This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for this gene on chromosome Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(25185,'NCBI Gene PubMed Count',NULL,4961,NULL,NULL,NULL,28,NULL,NULL,NULL),(25186,'NCBI Gene PubMed Count',NULL,4962,NULL,NULL,NULL,8,NULL,NULL,NULL),(25187,'NCBI Gene PubMed Count',NULL,4963,NULL,NULL,NULL,20,NULL,NULL,NULL),(25188,'NCBI Gene PubMed Count',NULL,4964,NULL,NULL,NULL,9,NULL,NULL,NULL),(25189,'NCBI Gene PubMed Count',NULL,4965,NULL,NULL,NULL,19,NULL,NULL,NULL),(25190,'NCBI Gene Summary',NULL,4966,NULL,'This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(25191,'NCBI Gene PubMed Count',NULL,4966,NULL,NULL,NULL,36,NULL,NULL,NULL),(25192,'NCBI Gene Summary',NULL,4967,NULL,'Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(25193,'NCBI Gene PubMed Count',NULL,4967,NULL,NULL,NULL,15,NULL,NULL,NULL),(25194,'NCBI Gene Summary',NULL,4968,NULL,'The protein encoded by this gene is thought to be a member of solute carrier family 22, which includes transmembrane proteins that transport toxins and drugs from the body. This gene is a paralog of the SVOP gene that encodes synaptic vesicle 2-related protein. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(25195,'NCBI Gene PubMed Count',NULL,4968,NULL,NULL,NULL,2,NULL,NULL,NULL),(25196,'NCBI Gene PubMed Count',NULL,4969,NULL,NULL,NULL,6,NULL,NULL,NULL),(25197,'NCBI Gene Summary',NULL,4970,NULL,'This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(25198,'NCBI Gene PubMed Count',NULL,4970,NULL,NULL,NULL,40,NULL,NULL,NULL),(25199,'NCBI Gene Summary',NULL,4971,NULL,'The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(25200,'NCBI Gene PubMed Count',NULL,4971,NULL,NULL,NULL,112,NULL,NULL,NULL),(25201,'NCBI Gene Summary',NULL,4972,NULL,'The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25202,'NCBI Gene PubMed Count',NULL,4972,NULL,NULL,NULL,42,NULL,NULL,NULL),(25203,'NCBI Gene Summary',NULL,4973,NULL,'The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(25204,'NCBI Gene PubMed Count',NULL,4973,NULL,NULL,NULL,61,NULL,NULL,NULL),(25205,'NCBI Gene Summary',NULL,4974,NULL,'This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(25206,'NCBI Gene PubMed Count',NULL,4974,NULL,NULL,NULL,23,NULL,NULL,NULL),(25207,'NCBI Gene Summary',NULL,4975,NULL,'This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(25208,'NCBI Gene PubMed Count',NULL,4975,NULL,NULL,NULL,55,NULL,NULL,NULL),(25209,'NCBI Gene Summary',NULL,4976,NULL,'This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(25210,'NCBI Gene PubMed Count',NULL,4976,NULL,NULL,NULL,145,NULL,NULL,NULL),(25211,'NCBI Gene Summary',NULL,4977,NULL,'The protein encoded by this gene is a Rho GTPase-activating protein highly expressed in placenta. The encoded protein is involved in cytoskeletal remodeling and trophoblast cell migration. Decreased expression of this gene has been associated with intrauterine growth restriction (IUGR). [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(25212,'NCBI Gene PubMed Count',NULL,4977,NULL,NULL,NULL,7,NULL,NULL,NULL),(25213,'NCBI Gene Summary',NULL,4978,NULL,'This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(25214,'NCBI Gene PubMed Count',NULL,4978,NULL,NULL,NULL,8,NULL,NULL,NULL),(25215,'NCBI Gene PubMed Count',NULL,4979,NULL,NULL,NULL,11,NULL,NULL,NULL),(25216,'NCBI Gene PubMed Count',NULL,4980,NULL,NULL,NULL,19,NULL,NULL,NULL),(25217,'NCBI Gene PubMed Count',NULL,4981,NULL,NULL,NULL,9,NULL,NULL,NULL),(25218,'NCBI Gene Summary',NULL,4982,NULL,'Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that is associated with the nucleus but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. Polymorphisms in this gene may be associated with prostate cancer susceptibility. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(25219,'NCBI Gene PubMed Count',NULL,4982,NULL,NULL,NULL,12,NULL,NULL,NULL),(25220,'NCBI Gene Summary',NULL,4983,NULL,'Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(25221,'NCBI Gene PubMed Count',NULL,4983,NULL,NULL,NULL,4,NULL,NULL,NULL),(25222,'NCBI Gene Summary',NULL,4984,NULL,'This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(25223,'NCBI Gene PubMed Count',NULL,4984,NULL,NULL,NULL,87,NULL,NULL,NULL),(25224,'NCBI Gene PubMed Count',NULL,4985,NULL,NULL,NULL,7,NULL,NULL,NULL),(25225,'NCBI Gene Summary',NULL,4986,NULL,'This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(25226,'NCBI Gene PubMed Count',NULL,4986,NULL,NULL,NULL,23,NULL,NULL,NULL),(25227,'NCBI Gene Summary',NULL,4987,NULL,'This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(25228,'NCBI Gene PubMed Count',NULL,4987,NULL,NULL,NULL,24,NULL,NULL,NULL),(25229,'NCBI Gene Summary',NULL,4988,NULL,'This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25230,'NCBI Gene PubMed Count',NULL,4988,NULL,NULL,NULL,172,NULL,NULL,NULL),(25231,'NCBI Gene Summary',NULL,4989,NULL,'SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(25232,'NCBI Gene PubMed Count',NULL,4989,NULL,NULL,NULL,54,NULL,NULL,NULL),(25233,'NCBI Gene Summary',NULL,4990,NULL,'This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(25234,'NCBI Gene PubMed Count',NULL,4990,NULL,NULL,NULL,10,NULL,NULL,NULL),(25235,'NCBI Gene Summary',NULL,4991,NULL,'The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25236,'NCBI Gene PubMed Count',NULL,4991,NULL,NULL,NULL,12,NULL,NULL,NULL),(25237,'NCBI Gene Summary',NULL,4992,NULL,'The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(25238,'NCBI Gene PubMed Count',NULL,4992,NULL,NULL,NULL,43,NULL,NULL,NULL),(25239,'NCBI Gene Summary',NULL,4993,NULL,'Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. The protein encoded by this gene is a member of the superfamily of somatostatin receptors having seven transmembrane segments. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This somatostatin receptor has greater affinity for somatostatin-14 than -28. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(25240,'NCBI Gene PubMed Count',NULL,4993,NULL,NULL,NULL,61,NULL,NULL,NULL),(25241,'NCBI Gene Summary',NULL,4994,NULL,'Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25242,'NCBI Gene PubMed Count',NULL,4994,NULL,NULL,NULL,21,NULL,NULL,NULL),(25243,'NCBI Gene Summary',NULL,4995,NULL,'This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25244,'NCBI Gene PubMed Count',NULL,4995,NULL,NULL,NULL,88,NULL,NULL,NULL),(25245,'NCBI Gene PubMed Count',NULL,4996,NULL,NULL,NULL,22,NULL,NULL,NULL),(25246,'NCBI Gene Summary',NULL,4997,NULL,'This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(25247,'NCBI Gene PubMed Count',NULL,4997,NULL,NULL,NULL,20,NULL,NULL,NULL),(25248,'NCBI Gene Summary',NULL,4998,NULL,'The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(25249,'NCBI Gene PubMed Count',NULL,4998,NULL,NULL,NULL,24,NULL,NULL,NULL),(25250,'NCBI Gene PubMed Count',NULL,4999,NULL,NULL,NULL,4,NULL,NULL,NULL),(25251,'NCBI Gene PubMed Count',NULL,5000,NULL,NULL,NULL,35,NULL,NULL,NULL),(25252,'NCBI Gene Summary',NULL,5001,NULL,'TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004]',NULL,NULL,NULL,NULL,NULL),(25253,'NCBI Gene PubMed Count',NULL,5001,NULL,NULL,NULL,20,NULL,NULL,NULL),(25254,'NCBI Gene Summary',NULL,5002,NULL,'This gene encodes a mitochondrial chaperone protein that is member of the heat shock protein 90 (HSP90) family. The encoded protein has ATPase activity and interacts with tumor necrosis factor type I. This protein may function in regulating cellular stress responses. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(25255,'NCBI Gene PubMed Count',NULL,5002,NULL,NULL,NULL,86,NULL,NULL,NULL),(25256,'NCBI Gene PubMed Count',NULL,5003,NULL,NULL,NULL,12,NULL,NULL,NULL),(25257,'NCBI Gene PubMed Count',NULL,5004,NULL,NULL,NULL,14,NULL,NULL,NULL),(25258,'NCBI Gene Summary',NULL,5005,NULL,'The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX2 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(25259,'NCBI Gene PubMed Count',NULL,5005,NULL,NULL,NULL,45,NULL,NULL,NULL),(25260,'NCBI Gene Summary',NULL,5006,NULL,'The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(25261,'NCBI Gene PubMed Count',NULL,5006,NULL,NULL,NULL,12,NULL,NULL,NULL),(25262,'NCBI Gene PubMed Count',NULL,5007,NULL,NULL,NULL,7,NULL,NULL,NULL),(25263,'NCBI Gene Summary',NULL,5008,NULL,'Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16; this gene and SULT1A4 arose from a segmental duplication. This gene is the most centromeric of the four sulfotransferase genes. Read-through transcription exists between this gene and the upstream SLX1A (SLX1 structure-specific endonuclease subunit homolog A) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(25264,'NCBI Gene PubMed Count',NULL,5008,NULL,NULL,NULL,63,NULL,NULL,NULL),(25265,'NCBI Gene Summary',NULL,5009,NULL,'Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16, this gene and SULT1A3 arose from a segmental duplication. Read-through transcription exists between this gene and the upstream SLX1B (SLX1 structure-specific endonuclease subunit homolog B) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(25266,'NCBI Gene PubMed Count',NULL,5009,NULL,NULL,NULL,11,NULL,NULL,NULL),(25267,'NCBI Gene Summary',NULL,5010,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(25268,'NCBI Gene PubMed Count',NULL,5010,NULL,NULL,NULL,1,NULL,NULL,NULL),(25269,'NCBI Gene PubMed Count',NULL,5011,NULL,NULL,NULL,10,NULL,NULL,NULL),(25270,'NCBI Gene Summary',NULL,5012,NULL,'The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25271,'NCBI Gene PubMed Count',NULL,5012,NULL,NULL,NULL,117,NULL,NULL,NULL),(25272,'NCBI Gene Summary',NULL,5013,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(25273,'NCBI Gene PubMed Count',NULL,5013,NULL,NULL,NULL,4,NULL,NULL,NULL),(25274,'NCBI Gene Summary',NULL,5014,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(25275,'NCBI Gene PubMed Count',NULL,5014,NULL,NULL,NULL,5,NULL,NULL,NULL),(25276,'NCBI Gene PubMed Count',NULL,5015,NULL,NULL,NULL,17,NULL,NULL,NULL),(25277,'NCBI Gene Summary',NULL,5016,NULL,'This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(25278,'NCBI Gene PubMed Count',NULL,5016,NULL,NULL,NULL,79,NULL,NULL,NULL),(25279,'NCBI Gene Summary',NULL,5017,NULL,'Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25280,'NCBI Gene PubMed Count',NULL,5017,NULL,NULL,NULL,50,NULL,NULL,NULL),(25281,'NCBI Gene Summary',NULL,5018,NULL,'The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(25282,'NCBI Gene PubMed Count',NULL,5018,NULL,NULL,NULL,11,NULL,NULL,NULL),(25283,'NCBI Gene Summary',NULL,5019,NULL,'The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25284,'NCBI Gene PubMed Count',NULL,5019,NULL,NULL,NULL,249,NULL,NULL,NULL),(25285,'NCBI Gene Summary',NULL,5020,NULL,'This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(25286,'NCBI Gene PubMed Count',NULL,5020,NULL,NULL,NULL,47,NULL,NULL,NULL),(25287,'NCBI Gene Summary',NULL,5021,NULL,'This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(25288,'NCBI Gene PubMed Count',NULL,5021,NULL,NULL,NULL,12,NULL,NULL,NULL),(25289,'NCBI Gene Summary',NULL,5022,NULL,'Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25290,'NCBI Gene PubMed Count',NULL,5022,NULL,NULL,NULL,57,NULL,NULL,NULL),(25291,'NCBI Gene Summary',NULL,5023,NULL,'The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25292,'NCBI Gene PubMed Count',NULL,5023,NULL,NULL,NULL,127,NULL,NULL,NULL),(25293,'NCBI Gene PubMed Count',NULL,5024,NULL,NULL,NULL,14,NULL,NULL,NULL),(25294,'NCBI Gene Summary',NULL,5025,NULL,'This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(25295,'NCBI Gene PubMed Count',NULL,5025,NULL,NULL,NULL,46,NULL,NULL,NULL),(25296,'NCBI Gene Summary',NULL,5026,NULL,'Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25297,'NCBI Gene PubMed Count',NULL,5026,NULL,NULL,NULL,19,NULL,NULL,NULL),(25298,'NCBI Gene PubMed Count',NULL,5027,NULL,NULL,NULL,29,NULL,NULL,NULL),(25299,'NCBI Gene Summary',NULL,5028,NULL,'Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(25300,'NCBI Gene PubMed Count',NULL,5028,NULL,NULL,NULL,20,NULL,NULL,NULL),(25301,'NCBI Gene Summary',NULL,5029,NULL,'This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25302,'NCBI Gene PubMed Count',NULL,5029,NULL,NULL,NULL,59,NULL,NULL,NULL),(25303,'NCBI Gene Summary',NULL,5030,NULL,'This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3\' end of this gene situated 1.6 kb from the 5\' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(25304,'NCBI Gene PubMed Count',NULL,5030,NULL,NULL,NULL,347,NULL,NULL,NULL),(25305,'NCBI Gene Summary',NULL,5031,NULL,'This gene is a member of the stromal interaction molecule (STIM) family and likely arose, along with related family member STIM1, from a common ancestral gene. The encoded protein functions to regulate calcium concentrations in the cytosol and endoplasmic reticulum, and is involved in the activation of plasma membrane Orai Ca(2+) entry channels. This gene initiates translation from a non-AUG (UUG) start site. A signal peptide is cleaved from the resulting protein. Multiple transcript variants result from alternative splicing. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(25306,'NCBI Gene PubMed Count',NULL,5031,NULL,NULL,NULL,53,NULL,NULL,NULL),(25307,'NCBI Gene PubMed Count',NULL,5032,NULL,NULL,NULL,20,NULL,NULL,NULL),(25308,'NCBI Gene Summary',NULL,5033,NULL,'This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25309,'NCBI Gene PubMed Count',NULL,5033,NULL,NULL,NULL,72,NULL,NULL,NULL),(25310,'NCBI Gene Summary',NULL,5034,NULL,'This gene encodes a serine/threonine protein kinase activated by proapoptotic molecules indicating the encoded protein functions as a growth suppressor. Cleavage of the protein product by caspase removes the inhibitory C-terminal portion. The N-terminal portion is transported to the nucleus where it homodimerizes to form the active kinase which promotes the condensation of chromatin during apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(25311,'NCBI Gene PubMed Count',NULL,5034,NULL,NULL,NULL,74,NULL,NULL,NULL),(25312,'NCBI Gene PubMed Count',NULL,5035,NULL,NULL,NULL,2,NULL,NULL,NULL),(25313,'NCBI Gene Summary',NULL,5036,NULL,'This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25314,'NCBI Gene PubMed Count',NULL,5036,NULL,NULL,NULL,400,NULL,NULL,NULL),(25315,'NCBI Gene Summary',NULL,5037,NULL,'This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25316,'NCBI Gene PubMed Count',NULL,5037,NULL,NULL,NULL,22,NULL,NULL,NULL),(25317,'NCBI Gene Summary',NULL,5038,NULL,'Transition protein-1 is a spermatid-specific product of the haploid genome which replaces histone and is itself replaced in the mature sperm by the protamines (see PRM1, MIM 182880; PRM2, MIM 182890) (Luerssen et al., 1990 [PubMed 2249851]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25318,'NCBI Gene PubMed Count',NULL,5038,NULL,NULL,NULL,24,NULL,NULL,NULL),(25319,'NCBI Gene Summary',NULL,5039,NULL,'The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair syndrome. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(25320,'NCBI Gene PubMed Count',NULL,5039,NULL,NULL,NULL,17,NULL,NULL,NULL),(25321,'NCBI Gene PubMed Count',NULL,5040,NULL,NULL,NULL,25,NULL,NULL,NULL),(25322,'NCBI Gene Summary',NULL,5041,NULL,'This gene encodes a retinoic acid-responsive protein. A homologous protein in mouse has been shown to be involved in the regulation of meiotic initiation in both spermatogenesis and oogenesis, though feature differences between the mouse and human proteins suggest that these homologs are not entirely functionally equivalent. It is thought that this gene may play a role in spermatogenesis in humans. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(25323,'NCBI Gene PubMed Count',NULL,5041,NULL,NULL,NULL,12,NULL,NULL,NULL),(25324,'NCBI Gene PubMed Count',NULL,5042,NULL,NULL,NULL,5,NULL,NULL,NULL),(25325,'NCBI Gene Summary',NULL,5043,NULL,'The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a \'pseudokinase\'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(25326,'NCBI Gene PubMed Count',NULL,5043,NULL,NULL,NULL,28,NULL,NULL,NULL),(25327,'NCBI Gene Summary',NULL,5044,NULL,'This gene encodes a member of the striatin-interacting phosphatase and kinase complex, which is involved in localization of the Golgi body. The encoded protein participates in cytosketelal organization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(25328,'NCBI Gene PubMed Count',NULL,5044,NULL,NULL,NULL,21,NULL,NULL,NULL),(25329,'NCBI Gene PubMed Count',NULL,5045,NULL,NULL,NULL,14,NULL,NULL,NULL),(25330,'NCBI Gene Summary',NULL,5046,NULL,'This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25331,'NCBI Gene PubMed Count',NULL,5046,NULL,NULL,NULL,40,NULL,NULL,NULL),(25332,'NCBI Gene Summary',NULL,5047,NULL,'This gene encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along with other family members, is a component of the cornified cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia. This envelope serves as a barrier against extracellular and environmental factors. The seven SPRR2 genes (A-G) appear to have been homogenized by gene conversion compared to others in the cluster that exhibit greater differences in protein structure. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(25333,'NCBI Gene PubMed Count',NULL,5047,NULL,NULL,NULL,14,NULL,NULL,NULL),(25334,'NCBI Gene PubMed Count',NULL,5048,NULL,NULL,NULL,26,NULL,NULL,NULL),(25335,'NCBI Gene PubMed Count',NULL,5049,NULL,NULL,NULL,12,NULL,NULL,NULL),(25336,'NCBI Gene PubMed Count',NULL,5050,NULL,NULL,NULL,14,NULL,NULL,NULL),(25337,'NCBI Gene Summary',NULL,5051,NULL,'The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(25338,'NCBI Gene PubMed Count',NULL,5051,NULL,NULL,NULL,21,NULL,NULL,NULL),(25339,'NCBI Gene PubMed Count',NULL,5052,NULL,NULL,NULL,5,NULL,NULL,NULL),(25340,'NCBI Gene Summary',NULL,5053,NULL,'This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(25341,'NCBI Gene PubMed Count',NULL,5053,NULL,NULL,NULL,31,NULL,NULL,NULL),(25342,'NCBI Gene PubMed Count',NULL,5054,NULL,NULL,NULL,14,NULL,NULL,NULL),(25343,'NCBI Gene Summary',NULL,5055,NULL,'Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR2 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in cerebrum and kidney. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25344,'NCBI Gene PubMed Count',NULL,5055,NULL,NULL,NULL,168,NULL,NULL,NULL),(25345,'NCBI Gene Summary',NULL,5056,NULL,'This gene encodes a member of the somatostatin receptor protein family. Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This protein is functionally coupled to adenylyl cyclase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(25346,'NCBI Gene PubMed Count',NULL,5056,NULL,NULL,NULL,63,NULL,NULL,NULL),(25347,'NCBI Gene Summary',NULL,5057,NULL,'Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins.  The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner.  SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25348,'NCBI Gene PubMed Count',NULL,5057,NULL,NULL,NULL,49,NULL,NULL,NULL),(25349,'NCBI Gene Summary',NULL,5058,NULL,'The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(25350,'NCBI Gene PubMed Count',NULL,5058,NULL,NULL,NULL,20,NULL,NULL,NULL),(25351,'NCBI Gene Summary',NULL,5059,NULL,'The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25352,'NCBI Gene PubMed Count',NULL,5059,NULL,NULL,NULL,18,NULL,NULL,NULL),(25353,'NCBI Gene Summary',NULL,5060,NULL,'Somatostatin and its related peptide cortistatin exert multiple biological actions on normal and tumoral tissue targets by interacting with somatostatin receptors (SSTRs). The protein encoded by this gene is one of the SSTRs, which is a multi-pass membrane protein and belongs to the G-protein coupled receptor 1 family. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase, and different regions of this receptor molecule are required for the activation of different signaling pathways. A mutation in this gene results in somatostatin analog resistance. Alternatively spliced transcript variants have been identified in this gene.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(25354,'NCBI Gene PubMed Count',NULL,5060,NULL,NULL,NULL,99,NULL,NULL,NULL),(25355,'NCBI Gene Summary',NULL,5061,NULL,'TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(25356,'NCBI Gene PubMed Count',NULL,5061,NULL,NULL,NULL,11,NULL,NULL,NULL),(25357,'NCBI Gene Summary',NULL,5062,NULL,'This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(25358,'NCBI Gene PubMed Count',NULL,5062,NULL,NULL,NULL,12,NULL,NULL,NULL),(25359,'NCBI Gene Summary',NULL,5063,NULL,'The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25360,'NCBI Gene PubMed Count',NULL,5063,NULL,NULL,NULL,109,NULL,NULL,NULL),(25361,'NCBI Gene PubMed Count',NULL,5064,NULL,NULL,NULL,40,NULL,NULL,NULL),(25362,'NCBI Gene PubMed Count',NULL,5065,NULL,NULL,NULL,9,NULL,NULL,NULL),(25363,'NCBI Gene PubMed Count',NULL,5066,NULL,NULL,NULL,3,NULL,NULL,NULL),(25364,'NCBI Gene PubMed Count',NULL,5067,NULL,NULL,NULL,1,NULL,NULL,NULL),(25365,'NCBI Gene PubMed Count',NULL,5068,NULL,NULL,NULL,1,NULL,NULL,NULL),(25366,'NCBI Gene PubMed Count',NULL,5069,NULL,NULL,NULL,5,NULL,NULL,NULL),(25367,'NCBI Gene PubMed Count',NULL,5070,NULL,NULL,NULL,2,NULL,NULL,NULL),(25368,'NCBI Gene PubMed Count',NULL,5071,NULL,NULL,NULL,5,NULL,NULL,NULL),(25369,'NCBI Gene PubMed Count',NULL,5072,NULL,NULL,NULL,10,NULL,NULL,NULL),(25370,'NCBI Gene PubMed Count',NULL,5073,NULL,NULL,NULL,2,NULL,NULL,NULL),(25371,'NCBI Gene PubMed Count',NULL,5074,NULL,NULL,NULL,1,NULL,NULL,NULL),(25372,'NCBI Gene PubMed Count',NULL,5075,NULL,NULL,NULL,8,NULL,NULL,NULL),(25373,'NCBI Gene Summary',NULL,5076,NULL,'The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25374,'NCBI Gene PubMed Count',NULL,5076,NULL,NULL,NULL,97,NULL,NULL,NULL),(25375,'NCBI Gene Summary',NULL,5077,NULL,'The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. Several alternatively spliced transcript variants encoding three distinct isoforms have been reported. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(25376,'NCBI Gene PubMed Count',NULL,5077,NULL,NULL,NULL,170,NULL,NULL,NULL),(25377,'NCBI Gene Summary',NULL,5078,NULL,'This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25378,'NCBI Gene PubMed Count',NULL,5078,NULL,NULL,NULL,74,NULL,NULL,NULL),(25379,'NCBI Gene Summary',NULL,5079,NULL,'The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins are associated with, and mediate signal transduction from, members of the TNF receptor superfamily. This protein mediates signaling from members of the TNF receptor superfamily as well as the Toll/IL-1 family. Signals from receptors such as CD40, TNFSF11/RANCE and IL-1 have been shown to be mediated by this protein. This protein also interacts with various protein kinases including IRAK1/IRAK, SRC and PKCzeta, which provides a link between distinct signaling pathways. This protein functions as a signal transducer in the NF-kappaB pathway that activates IkappaB kinase (IKK) in response to proinflammatory cytokines. The interaction of this protein with UBE2N/UBC13, and UBE2V1/UEV1A, which are ubiquitin conjugating enzymes catalyzing the formation of polyubiquitin chains, has been found to be required for IKK activation by this protein. This protein also interacts with the transforming growth factor (TGF) beta receptor complex and is required for Smad-independent activation of the JNK and p38 kinases. This protein has an amino terminal RING domain which is followed by four zinc-finger motifs, a central coiled-coil region and a highly conserved carboxyl terminal domain, known as the TRAF-C domain. Two alternatively spliced transcript variants, encoding an identical protein, have been reported. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(25380,'NCBI Gene PubMed Count',NULL,5079,NULL,NULL,NULL,395,NULL,NULL,NULL),(25381,'NCBI Gene Summary',NULL,5080,NULL,'Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(25382,'NCBI Gene PubMed Count',NULL,5080,NULL,NULL,NULL,19,NULL,NULL,NULL),(25383,'NCBI Gene Summary',NULL,5081,NULL,'This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25384,'NCBI Gene PubMed Count',NULL,5081,NULL,NULL,NULL,25,NULL,NULL,NULL),(25385,'NCBI Gene PubMed Count',NULL,5082,NULL,NULL,NULL,11,NULL,NULL,NULL),(25386,'NCBI Gene PubMed Count',NULL,5083,NULL,NULL,NULL,4,NULL,NULL,NULL),(25387,'NCBI Gene Summary',NULL,5084,NULL,'The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25388,'NCBI Gene PubMed Count',NULL,5084,NULL,NULL,NULL,5,NULL,NULL,NULL),(25389,'NCBI Gene PubMed Count',NULL,5085,NULL,NULL,NULL,63,NULL,NULL,NULL),(25390,'NCBI Gene Summary',NULL,5087,NULL,'Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Two alternatively spliced variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25391,'NCBI Gene PubMed Count',NULL,5087,NULL,NULL,NULL,42,NULL,NULL,NULL),(25392,'NCBI Gene Summary',NULL,5088,NULL,'Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. However, the total genomic length of this gene is greater than that of other SULT1 genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25393,'NCBI Gene PubMed Count',NULL,5088,NULL,NULL,NULL,24,NULL,NULL,NULL),(25394,'NCBI Gene Summary',NULL,5089,NULL,'This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(25395,'NCBI Gene PubMed Count',NULL,5089,NULL,NULL,NULL,38,NULL,NULL,NULL),(25396,'NCBI Gene Summary',NULL,5090,NULL,'This gene encodes an integral membrane protein that contains a single transmembrane domain. As similar protein in rabbits plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex in association with the ryanodine receptor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and single nucleotide polymorphisms in this gene may be markers for IgA nephritis. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(25397,'NCBI Gene PubMed Count',NULL,5090,NULL,NULL,NULL,26,NULL,NULL,NULL),(25398,'NCBI Gene Summary',NULL,5091,NULL,'Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25399,'NCBI Gene PubMed Count',NULL,5091,NULL,NULL,NULL,76,NULL,NULL,NULL),(25400,'NCBI Gene PubMed Count',NULL,5092,NULL,NULL,NULL,14,NULL,NULL,NULL),(25401,'NCBI Gene Summary',NULL,5093,NULL,'SUPT7L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(25402,'NCBI Gene PubMed Count',NULL,5093,NULL,NULL,NULL,12,NULL,NULL,NULL),(25403,'NCBI Gene Summary',NULL,5094,NULL,'This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(25404,'NCBI Gene PubMed Count',NULL,5094,NULL,NULL,NULL,19,NULL,NULL,NULL),(25405,'NCBI Gene Summary',NULL,5095,NULL,'This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(25406,'NCBI Gene PubMed Count',NULL,5095,NULL,NULL,NULL,20,NULL,NULL,NULL),(25407,'NCBI Gene PubMed Count',NULL,5096,NULL,NULL,NULL,6,NULL,NULL,NULL),(25408,'NCBI Gene Summary',NULL,5097,NULL,'This gene encodes a protein containing an SH3 domain and a zinc finger domain. The encoded protein has been shown to regulate calcium channel inactivation in a human cell line. Reduced expression of this gene has been observed in human heart failure. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(25409,'NCBI Gene PubMed Count',NULL,5097,NULL,NULL,NULL,8,NULL,NULL,NULL),(25410,'NCBI Gene PubMed Count',NULL,5098,NULL,NULL,NULL,10,NULL,NULL,NULL),(25411,'NCBI Gene PubMed Count',NULL,5099,NULL,NULL,NULL,8,NULL,NULL,NULL),(25412,'NCBI Gene PubMed Count',NULL,5100,NULL,NULL,NULL,9,NULL,NULL,NULL),(25413,'NCBI Gene PubMed Count',NULL,5101,NULL,NULL,NULL,5,NULL,NULL,NULL),(25414,'NCBI Gene Summary',NULL,5102,NULL,'This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachment by promoting recruitment of dynein proteins, and in mitotic checkpoint signaling. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(25415,'NCBI Gene PubMed Count',NULL,5102,NULL,NULL,NULL,14,NULL,NULL,NULL),(25416,'NCBI Gene Summary',NULL,5103,NULL,'The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(25417,'NCBI Gene PubMed Count',NULL,5103,NULL,NULL,NULL,33,NULL,NULL,NULL),(25418,'NCBI Gene PubMed Count',NULL,5104,NULL,NULL,NULL,3,NULL,NULL,NULL),(25419,'NCBI Gene Summary',NULL,5105,NULL,'This gene encodes a protein that is related to chondromodulin-I, which is a cartilage-specific glycoprotein that functions to stimulate chondrocyte growth and to inhibit tube formation of endothelial cells. This protein is also an angiogenesis inhibitor. Genetic variation in this gene is associated with a risk for type 2 diabetes, central obesity and serum levels of systemic immune mediators in a body size-dependent manner. This gene is also a candidate gene for age-related macular degeneration, though a direct link has yet to be demonstrated. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(25420,'NCBI Gene PubMed Count',NULL,5105,NULL,NULL,NULL,24,NULL,NULL,NULL),(25421,'NCBI Gene PubMed Count',NULL,5106,NULL,NULL,NULL,10,NULL,NULL,NULL),(25422,'NCBI Gene PubMed Count',NULL,5107,NULL,NULL,NULL,12,NULL,NULL,NULL),(25423,'NCBI Gene Summary',NULL,5108,NULL,'This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(25424,'NCBI Gene PubMed Count',NULL,5108,NULL,NULL,NULL,73,NULL,NULL,NULL),(25425,'NCBI Gene Summary',NULL,5109,NULL,'This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(25426,'NCBI Gene PubMed Count',NULL,5109,NULL,NULL,NULL,29,NULL,NULL,NULL),(25427,'NCBI Gene Summary',NULL,5110,NULL,'The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25428,'NCBI Gene PubMed Count',NULL,5110,NULL,NULL,NULL,180,NULL,NULL,NULL),(25429,'NCBI Gene Summary',NULL,5111,NULL,'The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic reticulum. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(25430,'NCBI Gene PubMed Count',NULL,5111,NULL,NULL,NULL,17,NULL,NULL,NULL),(25431,'NCBI Gene PubMed Count',NULL,5112,NULL,NULL,NULL,13,NULL,NULL,NULL),(25432,'NCBI Gene PubMed Count',NULL,5113,NULL,NULL,NULL,8,NULL,NULL,NULL),(25433,'NCBI Gene Summary',NULL,5115,NULL,'This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(25434,'NCBI Gene PubMed Count',NULL,5115,NULL,NULL,NULL,291,NULL,NULL,NULL),(25435,'NCBI Gene PubMed Count',NULL,5116,NULL,NULL,NULL,3,NULL,NULL,NULL),(25436,'NCBI Gene PubMed Count',NULL,5117,NULL,NULL,NULL,27,NULL,NULL,NULL),(25437,'NCBI Gene PubMed Count',NULL,5118,NULL,NULL,NULL,10,NULL,NULL,NULL),(25438,'NCBI Gene PubMed Count',NULL,5119,NULL,NULL,NULL,14,NULL,NULL,NULL),(25439,'NCBI Gene PubMed Count',NULL,5120,NULL,NULL,NULL,10,NULL,NULL,NULL),(25440,'NCBI Gene PubMed Count',NULL,5121,NULL,NULL,NULL,7,NULL,NULL,NULL),(25441,'NCBI Gene PubMed Count',NULL,5122,NULL,NULL,NULL,6,NULL,NULL,NULL),(25442,'NCBI Gene Summary',NULL,5123,NULL,'This gene encodes a tRNA-modifying enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded enzyme has both mono- and dimethylase activity when exogenously expressed, and uses S-adenosyl methionine as a methyl donor. The C-terminal region of the encoded protein has both a zinc finger motif, and an arginine/proline-rich region. Mutations in this gene have been implicated in autosomal recessive intellectual disorder (ARID). Alternative splicing results in multiple transcript variants encoding different isoforms. There is a pseudogene of this gene on the X chromosome. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(25443,'NCBI Gene PubMed Count',NULL,5123,NULL,NULL,NULL,15,NULL,NULL,NULL),(25444,'NCBI Gene Summary',NULL,5124,NULL,'The protein encoded by this gene is of unknown function. However, it is orthologous to the mouse Trmt2a gene and contains an RNA methyltransferase domain. Expression of this gene varies during the cell cycle, with aberrant expression being a possible biomarker in certain breast cancers. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(25445,'NCBI Gene PubMed Count',NULL,5124,NULL,NULL,NULL,10,NULL,NULL,NULL),(25446,'NCBI Gene Summary',NULL,5125,NULL,'This gene encodes a G-protein-coupled receptor for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic progenitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(25447,'NCBI Gene PubMed Count',NULL,5125,NULL,NULL,NULL,22,NULL,NULL,NULL),(25448,'NCBI Gene Summary',NULL,5126,NULL,'tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25449,'NCBI Gene PubMed Count',NULL,5126,NULL,NULL,NULL,8,NULL,NULL,NULL),(25450,'NCBI Gene Summary',NULL,5127,NULL,'This gene encodes a member of the tRNA methyltransferase 6 protein family. A similar protein in yeast is part of a two component methyltransferase, which is involved in the posttranslational modification that produces the modified nucleoside 1-methyladenosine in tRNAs. Modified 1-methyladenosine influences initiator methionine stability and may be involved in the replication of human immunodeficiency virus type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(25451,'NCBI Gene PubMed Count',NULL,5127,NULL,NULL,NULL,12,NULL,NULL,NULL),(25452,'NCBI Gene Summary',NULL,5128,NULL,'SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]',NULL,NULL,NULL,NULL,NULL),(25453,'NCBI Gene PubMed Count',NULL,5128,NULL,NULL,NULL,20,NULL,NULL,NULL),(25454,'NCBI Gene Summary',NULL,5129,NULL,'This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(25455,'NCBI Gene PubMed Count',NULL,5129,NULL,NULL,NULL,107,NULL,NULL,NULL),(25456,'NCBI Gene Summary',NULL,5130,NULL,'Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25457,'NCBI Gene PubMed Count',NULL,5130,NULL,NULL,NULL,60,NULL,NULL,NULL),(25458,'NCBI Gene Summary',NULL,5131,NULL,'This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins\' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25459,'NCBI Gene PubMed Count',NULL,5131,NULL,NULL,NULL,62,NULL,NULL,NULL),(25460,'NCBI Gene Summary',NULL,5132,NULL,'This gene is a member of the unc-84 homolog family and encodes a nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2019]',NULL,NULL,NULL,NULL,NULL),(25461,'NCBI Gene PubMed Count',NULL,5132,NULL,NULL,NULL,45,NULL,NULL,NULL),(25462,'NCBI Gene PubMed Count',NULL,5133,NULL,NULL,NULL,7,NULL,NULL,NULL),(25463,'NCBI Gene Summary',NULL,5134,NULL,'This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do not share sequence similarity. The encoded protein is a conserved integral membrane protein that interacts with endoplasmic reticulum-Golgi intermediate compartment proteins. Disruption of this gene results in reduced numbers of endoplasmic reticulum-Golgi intermediate compartment clusters and redistribution of coat protein I to the cytosol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(25464,'NCBI Gene PubMed Count',NULL,5134,NULL,NULL,NULL,22,NULL,NULL,NULL),(25465,'NCBI Gene PubMed Count',NULL,5135,NULL,NULL,NULL,3,NULL,NULL,NULL),(25466,'NCBI Gene PubMed Count',NULL,5136,NULL,NULL,NULL,10,NULL,NULL,NULL),(25467,'NCBI Gene PubMed Count',NULL,5137,NULL,NULL,NULL,12,NULL,NULL,NULL),(25468,'NCBI Gene Summary',NULL,5138,NULL,'This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(25469,'NCBI Gene PubMed Count',NULL,5138,NULL,NULL,NULL,23,NULL,NULL,NULL),(25470,'NCBI Gene PubMed Count',NULL,5139,NULL,NULL,NULL,14,NULL,NULL,NULL),(25471,'NCBI Gene Summary',NULL,5140,NULL,'The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(25472,'NCBI Gene PubMed Count',NULL,5140,NULL,NULL,NULL,20,NULL,NULL,NULL),(25473,'NCBI Gene PubMed Count',NULL,5141,NULL,NULL,NULL,21,NULL,NULL,NULL),(25474,'NCBI Gene PubMed Count',NULL,5142,NULL,NULL,NULL,41,NULL,NULL,NULL),(25475,'NCBI Gene Summary',NULL,5143,NULL,'This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(25476,'NCBI Gene PubMed Count',NULL,5143,NULL,NULL,NULL,43,NULL,NULL,NULL),(25477,'NCBI Gene PubMed Count',NULL,5144,NULL,NULL,NULL,9,NULL,NULL,NULL),(25478,'NCBI Gene Summary',NULL,5145,NULL,'The protein encoded by this gene is localized exclusively in the cell nucleus. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(25479,'NCBI Gene PubMed Count',NULL,5145,NULL,NULL,NULL,25,NULL,NULL,NULL),(25480,'NCBI Gene Summary',NULL,5146,NULL,'This gene encodes a member of a subfamily of proteins containing a central SPRY (repeats in splA and RyR) domain and a C-terminal suppressor of cytokine signaling (SOCS) box. This protein plays a role in cell signaling. This gene is present in a gene-rich cluster on chromosome 12p13 in the vicinity of the CD4 antigen and triosephosphate isomerase genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(25481,'NCBI Gene PubMed Count',NULL,5146,NULL,NULL,NULL,17,NULL,NULL,NULL),(25482,'NCBI Gene PubMed Count',NULL,5147,NULL,NULL,NULL,21,NULL,NULL,NULL),(25483,'NCBI Gene Summary',NULL,5148,NULL,'The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(25484,'NCBI Gene PubMed Count',NULL,5148,NULL,NULL,NULL,12,NULL,NULL,NULL),(25485,'NCBI Gene PubMed Count',NULL,5149,NULL,NULL,NULL,4,NULL,NULL,NULL),(25486,'NCBI Gene Summary',NULL,5150,NULL,'Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25487,'NCBI Gene PubMed Count',NULL,5150,NULL,NULL,NULL,19,NULL,NULL,NULL),(25488,'NCBI Gene Summary',NULL,5151,NULL,'Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(25489,'NCBI Gene PubMed Count',NULL,5151,NULL,NULL,NULL,7,NULL,NULL,NULL),(25490,'NCBI Gene Summary',NULL,5152,NULL,'This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(25491,'NCBI Gene PubMed Count',NULL,5152,NULL,NULL,NULL,113,NULL,NULL,NULL),(25492,'NCBI Gene PubMed Count',NULL,5153,NULL,NULL,NULL,8,NULL,NULL,NULL),(25493,'NCBI Gene Summary',NULL,5154,NULL,'This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5\'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(25494,'NCBI Gene PubMed Count',NULL,5154,NULL,NULL,NULL,44,NULL,NULL,NULL),(25495,'NCBI Gene Summary',NULL,5155,NULL,'This gene represents one of several duplicated family members that are located on chromosome X. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(25496,'NCBI Gene PubMed Count',NULL,5155,NULL,NULL,NULL,2,NULL,NULL,NULL),(25497,'NCBI Gene PubMed Count',NULL,5156,NULL,NULL,NULL,1,NULL,NULL,NULL),(25498,'NCBI Gene PubMed Count',NULL,5157,NULL,NULL,NULL,28,NULL,NULL,NULL),(25499,'NCBI Gene PubMed Count',NULL,5158,NULL,NULL,NULL,4,NULL,NULL,NULL),(25500,'NCBI Gene Summary',NULL,5159,NULL,'This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(25501,'NCBI Gene PubMed Count',NULL,5159,NULL,NULL,NULL,151,NULL,NULL,NULL),(25502,'NCBI Gene Summary',NULL,5160,NULL,'The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(25503,'NCBI Gene PubMed Count',NULL,5160,NULL,NULL,NULL,236,NULL,NULL,NULL),(25504,'NCBI Gene Summary',NULL,5161,NULL,'The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(25505,'NCBI Gene PubMed Count',NULL,5161,NULL,NULL,NULL,296,NULL,NULL,NULL),(25506,'NCBI Gene Summary',NULL,5162,NULL,'This gene encodes a serine/threonine protein kinase that functions upstream of mitogen-activated protein kinase (MAPK) signaling. The encoded protein is cleaved into two chains by caspases; the N-terminal fragment (MST3/N) translocates to the nucleus and promotes programmed cells death. There is a pseudogene for this gene on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(25507,'NCBI Gene PubMed Count',NULL,5162,NULL,NULL,NULL,52,NULL,NULL,NULL),(25508,'NCBI Gene Summary',NULL,5163,NULL,'The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25509,'NCBI Gene PubMed Count',NULL,5163,NULL,NULL,NULL,13,NULL,NULL,NULL),(25510,'NCBI Gene Summary',NULL,5164,NULL,'This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(25511,'NCBI Gene PubMed Count',NULL,5164,NULL,NULL,NULL,20,NULL,NULL,NULL),(25512,'NCBI Gene Summary',NULL,5165,NULL,'This gene encodes a member of the AGC serine/threonine kinase family of proteins. The kinase activity of this protein is regulated by autophosphorylation and phosphorylation by other upstream kinases. This protein has been shown to function in the cell cycle and apoptosis. This protein has also been found to regulate the protein stability and transcriptional activity of the MYC oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(25513,'NCBI Gene PubMed Count',NULL,5165,NULL,NULL,NULL,53,NULL,NULL,NULL),(25514,'NCBI Gene Summary',NULL,5166,NULL,'This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down\'s syndrome and Alzheimer\'s disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(25515,'NCBI Gene PubMed Count',NULL,5166,NULL,NULL,NULL,38,NULL,NULL,NULL),(25516,'NCBI Gene PubMed Count',NULL,5167,NULL,NULL,NULL,18,NULL,NULL,NULL),(25517,'NCBI Gene PubMed Count',NULL,5168,NULL,NULL,NULL,6,NULL,NULL,NULL),(25518,'NCBI Gene Summary',NULL,5169,NULL,'The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it\'s possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25519,'NCBI Gene PubMed Count',NULL,5169,NULL,NULL,NULL,116,NULL,NULL,NULL),(25520,'NCBI Gene PubMed Count',NULL,5170,NULL,NULL,NULL,8,NULL,NULL,NULL),(25521,'NCBI Gene PubMed Count',NULL,5171,NULL,NULL,NULL,7,NULL,NULL,NULL),(25522,'NCBI Gene Summary',NULL,5172,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25523,'NCBI Gene PubMed Count',NULL,5172,NULL,NULL,NULL,11,NULL,NULL,NULL),(25524,'NCBI Gene Summary',NULL,5173,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nucleus and the cytoplasm. Its function has not been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25525,'NCBI Gene PubMed Count',NULL,5173,NULL,NULL,NULL,28,NULL,NULL,NULL),(25526,'NCBI Gene Summary',NULL,5174,NULL,'This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(25527,'NCBI Gene PubMed Count',NULL,5174,NULL,NULL,NULL,16,NULL,NULL,NULL),(25528,'NCBI Gene Summary',NULL,5175,NULL,'This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25529,'NCBI Gene PubMed Count',NULL,5175,NULL,NULL,NULL,48,NULL,NULL,NULL),(25530,'NCBI Gene PubMed Count',NULL,5176,NULL,NULL,NULL,12,NULL,NULL,NULL),(25531,'NCBI Gene PubMed Count',NULL,5177,NULL,NULL,NULL,20,NULL,NULL,NULL),(25532,'NCBI Gene PubMed Count',NULL,5178,NULL,NULL,NULL,7,NULL,NULL,NULL),(25533,'NCBI Gene Summary',NULL,5179,NULL,'The protein encoded by this gene is part of the synaptonemal complex formed between homologous chromosomes during meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(25534,'NCBI Gene PubMed Count',NULL,5179,NULL,NULL,NULL,12,NULL,NULL,NULL),(25535,'NCBI Gene Summary',NULL,5180,NULL,'This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(25536,'NCBI Gene PubMed Count',NULL,5180,NULL,NULL,NULL,31,NULL,NULL,NULL),(25537,'NCBI Gene Summary',NULL,5181,NULL,'This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(25538,'NCBI Gene PubMed Count',NULL,5181,NULL,NULL,NULL,23,NULL,NULL,NULL),(25539,'NCBI Gene PubMed Count',NULL,5182,NULL,NULL,NULL,9,NULL,NULL,NULL),(25540,'NCBI Gene Summary',NULL,5183,NULL,'This gene encodes a protein that may interact with human papillomavirus type 18 E6 oncogene. The protein is also likely to be involved in endosome-to-trans-Golgi network retrograde transport. The gene is expressed in adult and fetal tissues, including brain and heart. This gene is a component of the 2q13 deletion syndrome. Mutations in this gene may be associated with congenital heart defects. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(25541,'NCBI Gene PubMed Count',NULL,5183,NULL,NULL,NULL,10,NULL,NULL,NULL),(25542,'NCBI Gene PubMed Count',NULL,5184,NULL,NULL,NULL,5,NULL,NULL,NULL),(25543,'NCBI Gene Summary',NULL,5185,NULL,'This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25544,'NCBI Gene PubMed Count',NULL,5185,NULL,NULL,NULL,40,NULL,NULL,NULL),(25545,'NCBI Gene PubMed Count',NULL,5186,NULL,NULL,NULL,10,NULL,NULL,NULL),(25546,'NCBI Gene PubMed Count',NULL,5187,NULL,NULL,NULL,10,NULL,NULL,NULL),(25547,'NCBI Gene PubMed Count',NULL,5188,NULL,NULL,NULL,0,NULL,NULL,NULL),(25548,'NCBI Gene PubMed Count',NULL,5189,NULL,NULL,NULL,13,NULL,NULL,NULL),(25549,'NCBI Gene Summary',NULL,5190,NULL,'This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(25550,'NCBI Gene PubMed Count',NULL,5190,NULL,NULL,NULL,58,NULL,NULL,NULL),(25551,'NCBI Gene PubMed Count',NULL,5191,NULL,NULL,NULL,17,NULL,NULL,NULL),(25552,'NCBI Gene PubMed Count',NULL,5192,NULL,NULL,NULL,17,NULL,NULL,NULL),(25553,'NCBI Gene Summary',NULL,5193,NULL,'This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(25554,'NCBI Gene PubMed Count',NULL,5193,NULL,NULL,NULL,19,NULL,NULL,NULL),(25555,'NCBI Gene PubMed Count',NULL,5194,NULL,NULL,NULL,1,NULL,NULL,NULL),(25556,'NCBI Gene Summary',NULL,5195,NULL,'This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(25557,'NCBI Gene PubMed Count',NULL,5195,NULL,NULL,NULL,30,NULL,NULL,NULL),(25558,'NCBI Gene Summary',NULL,5196,NULL,'SNAI3 is a member of the SNAIL gene family, named for the Drosophila snail gene, which plays roles in mesodermal formation during embryogenesis (Katoh and Katoh, 2003 [PubMed 12579345]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(25559,'NCBI Gene PubMed Count',NULL,5196,NULL,NULL,NULL,4,NULL,NULL,NULL),(25560,'NCBI Gene Summary',NULL,5197,NULL,'This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25561,'NCBI Gene PubMed Count',NULL,5197,NULL,NULL,NULL,13,NULL,NULL,NULL),(25562,'NCBI Gene Summary',NULL,5198,NULL,'The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(25563,'NCBI Gene PubMed Count',NULL,5198,NULL,NULL,NULL,58,NULL,NULL,NULL),(25564,'NCBI Gene Summary',NULL,5199,NULL,'B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25565,'NCBI Gene PubMed Count',NULL,5199,NULL,NULL,NULL,81,NULL,NULL,NULL),(25566,'NCBI Gene PubMed Count',NULL,5200,NULL,NULL,NULL,4,NULL,NULL,NULL),(25567,'NCBI Gene Summary',NULL,5201,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25568,'NCBI Gene PubMed Count',NULL,5201,NULL,NULL,NULL,13,NULL,NULL,NULL),(25569,'NCBI Gene Summary',NULL,5202,NULL,'This gene is a member of the transformer 2 homolog family and encodes a protein with several RRM (RNA recognition motif) domains. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(25570,'NCBI Gene PubMed Count',NULL,5202,NULL,NULL,NULL,21,NULL,NULL,NULL),(25571,'NCBI Gene Summary',NULL,5203,NULL,'This gene encodes a nuclear protein which functions as sequence-specific serine/arginine splicing factor which plays a role in mRNA processing, splicing patterns, and gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(25572,'NCBI Gene PubMed Count',NULL,5203,NULL,NULL,NULL,64,NULL,NULL,NULL),(25573,'NCBI Gene Summary',NULL,5204,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(25574,'NCBI Gene PubMed Count',NULL,5204,NULL,NULL,NULL,14,NULL,NULL,NULL),(25575,'NCBI Gene Summary',NULL,5205,NULL,'The innate immune system confers host defense against viral and microbial infection, and TRAFD1 is a negative feedback regulator that controls excessive immune responses (Sanada et al., 2008 [PubMed 18849341]).[supplied by OMIM, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(25576,'NCBI Gene PubMed Count',NULL,5205,NULL,NULL,NULL,15,NULL,NULL,NULL),(25577,'NCBI Gene Summary',NULL,5206,NULL,'The protein encoded by this gene is a member of the TNF receptor (TNFR) associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from various receptors of the TNFR superfamily. This protein and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic signals from TNF receptors. The expression of this protein can be induced by Epstein-Barr virus (EBV). EBV infection membrane protein 1 (LMP1) is found to interact with this and other TRAF proteins; this interaction is thought to link LMP1-mediated B lymphocyte transformation to the signal transduction from TNFR family receptors. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(25578,'NCBI Gene PubMed Count',NULL,5206,NULL,NULL,NULL,170,NULL,NULL,NULL),(25579,'NCBI Gene Summary',NULL,5207,NULL,'The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25580,'NCBI Gene PubMed Count',NULL,5207,NULL,NULL,NULL,289,NULL,NULL,NULL),(25581,'NCBI Gene Summary',NULL,5208,NULL,'The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(25582,'NCBI Gene PubMed Count',NULL,5208,NULL,NULL,NULL,76,NULL,NULL,NULL),(25583,'NCBI Gene PubMed Count',NULL,5209,NULL,NULL,NULL,23,NULL,NULL,NULL),(25584,'NCBI Gene Summary',NULL,5210,NULL,'This gene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences glycosylation and facilitates the translocation of secretory proteins across the endoplasmic reticulum membrane by regulating which domains of the nascent polypeptide chain are visible to the cytosol during a translocational pause. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(25585,'NCBI Gene PubMed Count',NULL,5210,NULL,NULL,NULL,16,NULL,NULL,NULL),(25586,'NCBI Gene Summary',NULL,5211,NULL,'The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25587,'NCBI Gene PubMed Count',NULL,5211,NULL,NULL,NULL,285,NULL,NULL,NULL),(25588,'NCBI Gene Summary',NULL,5212,NULL,'HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene binds between the bulge and the loop of the HIV-1 TAR RNA regulatory element and activates HIV-1 gene expression in synergy with the viral Tat protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene also has a pseudogene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25589,'NCBI Gene PubMed Count',NULL,5212,NULL,NULL,NULL,83,NULL,NULL,NULL),(25590,'NCBI Gene Summary',NULL,5213,NULL,'This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(25591,'NCBI Gene PubMed Count',NULL,5213,NULL,NULL,NULL,31,NULL,NULL,NULL),(25592,'NCBI Gene PubMed Count',NULL,5214,NULL,NULL,NULL,1,NULL,NULL,NULL),(25593,'NCBI Gene PubMed Count',NULL,5215,NULL,NULL,NULL,15,NULL,NULL,NULL),(25594,'NCBI Gene PubMed Count',NULL,5216,NULL,NULL,NULL,18,NULL,NULL,NULL),(25595,'NCBI Gene PubMed Count',NULL,5217,NULL,NULL,NULL,6,NULL,NULL,NULL),(25596,'NCBI Gene PubMed Count',NULL,5218,NULL,NULL,NULL,30,NULL,NULL,NULL),(25597,'NCBI Gene Summary',NULL,5219,NULL,'This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25598,'NCBI Gene PubMed Count',NULL,5219,NULL,NULL,NULL,49,NULL,NULL,NULL),(25599,'NCBI Gene Summary',NULL,5220,NULL,'This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(25600,'NCBI Gene PubMed Count',NULL,5220,NULL,NULL,NULL,9,NULL,NULL,NULL),(25601,'NCBI Gene Summary',NULL,5221,NULL,'This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(25602,'NCBI Gene PubMed Count',NULL,5221,NULL,NULL,NULL,54,NULL,NULL,NULL),(25603,'NCBI Gene Summary',NULL,5222,NULL,'This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25604,'NCBI Gene PubMed Count',NULL,5222,NULL,NULL,NULL,45,NULL,NULL,NULL),(25605,'NCBI Gene PubMed Count',NULL,5223,NULL,NULL,NULL,15,NULL,NULL,NULL),(25606,'NCBI Gene Summary',NULL,5224,NULL,'This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(25607,'NCBI Gene PubMed Count',NULL,5224,NULL,NULL,NULL,23,NULL,NULL,NULL),(25608,'NCBI Gene PubMed Count',NULL,5225,NULL,NULL,NULL,18,NULL,NULL,NULL),(25609,'NCBI Gene Summary',NULL,5226,NULL,'This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in cancer cells. Mutations in this gene have been associated with X-linked cognitive disability. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(25610,'NCBI Gene PubMed Count',NULL,5226,NULL,NULL,NULL,7,NULL,NULL,NULL),(25611,'NCBI Gene PubMed Count',NULL,5227,NULL,NULL,NULL,6,NULL,NULL,NULL),(25612,'NCBI Gene Summary',NULL,5228,NULL,'USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(25613,'NCBI Gene PubMed Count',NULL,5228,NULL,NULL,NULL,13,NULL,NULL,NULL),(25614,'NCBI Gene PubMed Count',NULL,5229,NULL,NULL,NULL,26,NULL,NULL,NULL),(25615,'NCBI Gene PubMed Count',NULL,5230,NULL,NULL,NULL,14,NULL,NULL,NULL),(25616,'NCBI Gene PubMed Count',NULL,5231,NULL,NULL,NULL,10,NULL,NULL,NULL),(25617,'NCBI Gene Summary',NULL,5232,NULL,'Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(25618,'NCBI Gene PubMed Count',NULL,5232,NULL,NULL,NULL,37,NULL,NULL,NULL),(25619,'NCBI Gene Summary',NULL,5233,NULL,'The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(25620,'NCBI Gene PubMed Count',NULL,5233,NULL,NULL,NULL,160,NULL,NULL,NULL),(25621,'NCBI Gene Summary',NULL,5234,NULL,'This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(25622,'NCBI Gene PubMed Count',NULL,5234,NULL,NULL,NULL,84,NULL,NULL,NULL),(25623,'NCBI Gene PubMed Count',NULL,5235,NULL,NULL,NULL,9,NULL,NULL,NULL),(25624,'NCBI Gene Summary',NULL,5236,NULL,'The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(25625,'NCBI Gene PubMed Count',NULL,5236,NULL,NULL,NULL,27,NULL,NULL,NULL),(25626,'NCBI Gene PubMed Count',NULL,5237,NULL,NULL,NULL,24,NULL,NULL,NULL),(25627,'NCBI Gene Summary',NULL,5238,NULL,'Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(25628,'NCBI Gene PubMed Count',NULL,5238,NULL,NULL,NULL,34,NULL,NULL,NULL),(25629,'NCBI Gene Summary',NULL,5239,NULL,'Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(25630,'NCBI Gene PubMed Count',NULL,5239,NULL,NULL,NULL,14,NULL,NULL,NULL),(25631,'NCBI Gene PubMed Count',NULL,5240,NULL,NULL,NULL,20,NULL,NULL,NULL),(25632,'NCBI Gene Summary',NULL,5241,NULL,'This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(25633,'NCBI Gene PubMed Count',NULL,5241,NULL,NULL,NULL,31,NULL,NULL,NULL),(25634,'NCBI Gene Summary',NULL,5242,NULL,'This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25635,'NCBI Gene PubMed Count',NULL,5242,NULL,NULL,NULL,30,NULL,NULL,NULL),(25636,'NCBI Gene PubMed Count',NULL,5243,NULL,NULL,NULL,28,NULL,NULL,NULL),(25637,'NCBI Gene Summary',NULL,5244,NULL,'This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3\'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25638,'NCBI Gene PubMed Count',NULL,5244,NULL,NULL,NULL,34,NULL,NULL,NULL),(25639,'NCBI Gene Summary',NULL,5245,NULL,'This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(25640,'NCBI Gene PubMed Count',NULL,5245,NULL,NULL,NULL,48,NULL,NULL,NULL),(25641,'NCBI Gene Summary',NULL,5246,NULL,'Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This gene encodes a deubiquitinating enzyme which lies in a gene cluster on chromosome Xp11.23 [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25642,'NCBI Gene PubMed Count',NULL,5246,NULL,NULL,NULL,38,NULL,NULL,NULL),(25643,'NCBI Gene PubMed Count',NULL,5247,NULL,NULL,NULL,23,NULL,NULL,NULL),(25644,'NCBI Gene Summary',NULL,5248,NULL,'This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(25645,'NCBI Gene PubMed Count',NULL,5248,NULL,NULL,NULL,51,NULL,NULL,NULL),(25646,'NCBI Gene Summary',NULL,5249,NULL,'The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25647,'NCBI Gene PubMed Count',NULL,5249,NULL,NULL,NULL,28,NULL,NULL,NULL),(25648,'NCBI Gene Summary',NULL,5250,NULL,'This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(25649,'NCBI Gene PubMed Count',NULL,5250,NULL,NULL,NULL,16,NULL,NULL,NULL),(25650,'NCBI Gene Summary',NULL,5251,NULL,'Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein\'s associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25651,'NCBI Gene PubMed Count',NULL,5251,NULL,NULL,NULL,38,NULL,NULL,NULL),(25652,'NCBI Gene PubMed Count',NULL,5252,NULL,NULL,NULL,73,NULL,NULL,NULL),(25653,'NCBI Gene PubMed Count',NULL,5253,NULL,NULL,NULL,10,NULL,NULL,NULL),(25654,'NCBI Gene Summary',NULL,5254,NULL,'Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25655,'NCBI Gene PubMed Count',NULL,5254,NULL,NULL,NULL,30,NULL,NULL,NULL),(25656,'NCBI Gene Summary',NULL,5255,NULL,'This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(25657,'NCBI Gene PubMed Count',NULL,5255,NULL,NULL,NULL,15,NULL,NULL,NULL),(25658,'NCBI Gene Summary',NULL,5256,NULL,'The protein encoded by this gene is a deubiquitinase involved in the DNA damage pathway and DNA damage-induced apoptosis. Overexpression of this gene is seen in several cancers. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(25659,'NCBI Gene PubMed Count',NULL,5256,NULL,NULL,NULL,29,NULL,NULL,NULL),(25660,'NCBI Gene PubMed Count',NULL,5257,NULL,NULL,NULL,11,NULL,NULL,NULL),(25661,'NCBI Gene Summary',NULL,5258,NULL,'This gene encodes a member of the peptidase C19 family of ubiquitin-specific proteases. These deubiquitinating enzymes (DUBs) catalyze the removal of ubiquitin proteins from other proteins. The encoded protein associates with polarized mitochondria and has been shown to inhibit NF-kappa B activation and delay PARK2-mediated degradation of mitochondria. Expression of this gene is upregulated by the let-7a microRNA and reduced expression has been observed in human tumor tissues. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(25662,'NCBI Gene PubMed Count',NULL,5258,NULL,NULL,NULL,14,NULL,NULL,NULL),(25663,'NCBI Gene Summary',NULL,5259,NULL,'This gene encodes a member of the peptidase C19 or ubiquitin-specific protease family of cysteine proteases. Members of this family remove ubiquitin molecules from polyubiquitinated proteins. The encoded protein may deubiquitinate and stabilize the transcription factor c-Myc, also known as MYC, an important oncoprotein known to be upregulated in most human cancers. The encoded protease may also regulate the activation of autophagy. This gene exhibits elevated expression in some breast and lung cancers. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(25664,'NCBI Gene PubMed Count',NULL,5259,NULL,NULL,NULL,27,NULL,NULL,NULL),(25665,'NCBI Gene PubMed Count',NULL,5260,NULL,NULL,NULL,38,NULL,NULL,NULL),(25666,'NCBI Gene Summary',NULL,5261,NULL,'This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(25667,'NCBI Gene PubMed Count',NULL,5261,NULL,NULL,NULL,70,NULL,NULL,NULL),(25668,'NCBI Gene PubMed Count',NULL,5262,NULL,NULL,NULL,5,NULL,NULL,NULL),(25669,'NCBI Gene Summary',NULL,5263,NULL,'This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(25670,'NCBI Gene PubMed Count',NULL,5263,NULL,NULL,NULL,51,NULL,NULL,NULL),(25671,'NCBI Gene PubMed Count',NULL,5264,NULL,NULL,NULL,15,NULL,NULL,NULL),(25672,'NCBI Gene Summary',NULL,5265,NULL,'This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(25673,'NCBI Gene PubMed Count',NULL,5265,NULL,NULL,NULL,21,NULL,NULL,NULL),(25674,'NCBI Gene PubMed Count',NULL,5266,NULL,NULL,NULL,26,NULL,NULL,NULL),(25675,'NCBI Gene Summary',NULL,5267,NULL,'The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(25676,'NCBI Gene PubMed Count',NULL,5267,NULL,NULL,NULL,23,NULL,NULL,NULL),(25677,'NCBI Gene PubMed Count',NULL,5268,NULL,NULL,NULL,6,NULL,NULL,NULL),(25678,'NCBI Gene PubMed Count',NULL,5269,NULL,NULL,NULL,18,NULL,NULL,NULL),(25679,'NCBI Gene Summary',NULL,5270,NULL,'This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25680,'NCBI Gene PubMed Count',NULL,5270,NULL,NULL,NULL,99,NULL,NULL,NULL),(25681,'NCBI Gene Summary',NULL,5271,NULL,'DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of deubiquitinating enzymes. See USP1 (MIM 603478) for background information.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25682,'NCBI Gene PubMed Count',NULL,5271,NULL,NULL,NULL,27,NULL,NULL,NULL),(25683,'NCBI Gene Summary',NULL,5272,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(25684,'NCBI Gene PubMed Count',NULL,5272,NULL,NULL,NULL,20,NULL,NULL,NULL),(25685,'NCBI Gene PubMed Count',NULL,5273,NULL,NULL,NULL,18,NULL,NULL,NULL),(25686,'NCBI Gene Summary',NULL,5274,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25687,'NCBI Gene PubMed Count',NULL,5274,NULL,NULL,NULL,19,NULL,NULL,NULL),(25688,'NCBI Gene Summary',NULL,5275,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25689,'NCBI Gene PubMed Count',NULL,5275,NULL,NULL,NULL,239,NULL,NULL,NULL),(25690,'NCBI Gene Summary',NULL,5276,NULL,'This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(25691,'NCBI Gene PubMed Count',NULL,5276,NULL,NULL,NULL,39,NULL,NULL,NULL),(25692,'NCBI Gene Summary',NULL,5277,NULL,'Mitochondrial uncoupling proteins (UCP) are members of the family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25693,'NCBI Gene PubMed Count',NULL,5277,NULL,NULL,NULL,144,NULL,NULL,NULL),(25694,'NCBI Gene PubMed Count',NULL,5278,NULL,NULL,NULL,16,NULL,NULL,NULL),(25695,'NCBI Gene PubMed Count',NULL,5279,NULL,NULL,NULL,10,NULL,NULL,NULL),(25696,'NCBI Gene PubMed Count',NULL,5280,NULL,NULL,NULL,15,NULL,NULL,NULL),(25697,'NCBI Gene Summary',NULL,5281,NULL,'This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25698,'NCBI Gene PubMed Count',NULL,5281,NULL,NULL,NULL,81,NULL,NULL,NULL),(25699,'NCBI Gene Summary',NULL,5282,NULL,'This gene encodes a mature peptide that is an active cyclic heptapeptide absolutely conserved from lamprey to human. The active peptide acts as a vasoconstrictor and is expressed only in brain tissue. Despite the gene family name similarity, this gene is not homologous to urocortin, a member of the sauvagine/corticotropin-releasing factor/urotensin I family. Most of the proprotein is cleaved to make the mature peptide. Transcript variants encoding different preproprotein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25700,'NCBI Gene PubMed Count',NULL,5282,NULL,NULL,NULL,104,NULL,NULL,NULL),(25701,'NCBI Gene Summary',NULL,5283,NULL,'This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25702,'NCBI Gene PubMed Count',NULL,5283,NULL,NULL,NULL,60,NULL,NULL,NULL),(25703,'NCBI Gene Summary',NULL,5284,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(25704,'NCBI Gene PubMed Count',NULL,5284,NULL,NULL,NULL,35,NULL,NULL,NULL),(25705,'NCBI Gene Summary',NULL,5285,NULL,'This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(25706,'NCBI Gene PubMed Count',NULL,5285,NULL,NULL,NULL,20,NULL,NULL,NULL),(25707,'NCBI Gene Summary',NULL,5286,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\'\', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(25708,'NCBI Gene PubMed Count',NULL,5286,NULL,NULL,NULL,30,NULL,NULL,NULL),(25709,'NCBI Gene Summary',NULL,5287,NULL,'This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25710,'NCBI Gene PubMed Count',NULL,5287,NULL,NULL,NULL,7,NULL,NULL,NULL),(25711,'NCBI Gene PubMed Count',NULL,5288,NULL,NULL,NULL,21,NULL,NULL,NULL),(25712,'NCBI Gene Summary',NULL,5289,NULL,'This gene encodes a voltage-dependent anion channel protein that is a major component of the outer mitochondrial membrane. The encoded protein facilitates the exchange of metabolites and ions across the outer mitochondrial membrane and may regulate mitochondrial functions. This protein also forms channels in the plasma membrane and may be involved in transmembrane electron transport. Alternate splicing results in multiple transcript variants. Multiple pseudogenes of this gene are found on chromosomes 1, 2 3, 6, 9, 12, X and Y.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(25713,'NCBI Gene PubMed Count',NULL,5289,NULL,NULL,NULL,175,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (25714,'NCBI Gene Summary',NULL,5290,NULL,'This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]',NULL,NULL,NULL,NULL,NULL),(25715,'NCBI Gene PubMed Count',NULL,5290,NULL,NULL,NULL,1814,NULL,NULL,NULL),(25716,'NCBI Gene Summary',NULL,5291,NULL,'This gene encodes a member of the PDGF (platelet-derived growth factor)/VEGF (vascular endothelial growth factor) family. The VEGF family members regulate the formation of blood vessels and are involved in endothelial cell physiology. This member is a ligand for VEGFR-1 (vascular endothelial growth factor receptor 1) and NRP-1 (neuropilin-1). Studies in mice showed that this gene was co-expressed with nuclear-encoded mitochondrial genes and the encoded protein specifically controlled endothelial uptake of fatty acids. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(25717,'NCBI Gene PubMed Count',NULL,5291,NULL,NULL,NULL,67,NULL,NULL,NULL),(25718,'NCBI Gene Summary',NULL,5292,NULL,'The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(25719,'NCBI Gene PubMed Count',NULL,5292,NULL,NULL,NULL,46,NULL,NULL,NULL),(25720,'NCBI Gene Summary',NULL,5293,NULL,'This gene lies within the male specific region of chromosome Y. Its homolog on chromosome X escapes X inactivation and encodes an actin sequestering protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25721,'NCBI Gene PubMed Count',NULL,5293,NULL,NULL,NULL,12,NULL,NULL,NULL),(25722,'NCBI Gene Summary',NULL,5294,NULL,'This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25723,'NCBI Gene PubMed Count',NULL,5294,NULL,NULL,NULL,104,NULL,NULL,NULL),(25724,'NCBI Gene PubMed Count',NULL,5295,NULL,NULL,NULL,18,NULL,NULL,NULL),(25725,'NCBI Gene PubMed Count',NULL,5296,NULL,NULL,NULL,3,NULL,NULL,NULL),(25726,'NCBI Gene PubMed Count',NULL,5297,NULL,NULL,NULL,20,NULL,NULL,NULL),(25727,'NCBI Gene Summary',NULL,5298,NULL,'This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family. The encoded preproprotein is proteolytically processed to generate the mature peptide, an endogenous ligand for both corticotropin-releasing factor receptor 1 and corticotropin-releasing factor receptor 2. In the brain this peptide may be responsible for the effects of stress on appetite. This peptide may also play a role in mood disorders, neurodegeneration, and skeletal system disorders. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin-2. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(25728,'NCBI Gene PubMed Count',NULL,5298,NULL,NULL,NULL,81,NULL,NULL,NULL),(25729,'NCBI Gene Summary',NULL,5299,NULL,'This gene encodes a highly conserved cold shock domain protein that has broad nucleic acid binding properties. The encoded protein functions as both a DNA and RNA binding protein and has been implicated in numerous cellular processes including regulation of transcription and translation, pre-mRNA splicing, DNA reparation and mRNA packaging. This protein is also a component of messenger ribonucleoprotein (mRNP) complexes and may have a role in microRNA processing. This protein can be secreted through non-classical pathways and functions as an extracellular mitogen. Aberrant expression of the gene is associated with cancer proliferation in numerous tissues. This gene may be a prognostic marker for poor outcome and drug resistance in certain cancers. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(25730,'NCBI Gene PubMed Count',NULL,5299,NULL,NULL,NULL,301,NULL,NULL,NULL),(25731,'NCBI Gene Summary',NULL,5300,NULL,'The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(25732,'NCBI Gene PubMed Count',NULL,5300,NULL,NULL,NULL,13,NULL,NULL,NULL),(25733,'NCBI Gene Summary',NULL,5301,NULL,'This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(25734,'NCBI Gene PubMed Count',NULL,5301,NULL,NULL,NULL,31,NULL,NULL,NULL),(25735,'NCBI Gene Summary',NULL,5302,NULL,'Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(25736,'NCBI Gene PubMed Count',NULL,5302,NULL,NULL,NULL,26,NULL,NULL,NULL),(25737,'NCBI Gene Summary',NULL,5303,NULL,'Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25738,'NCBI Gene PubMed Count',NULL,5303,NULL,NULL,NULL,52,NULL,NULL,NULL),(25739,'NCBI Gene Summary',NULL,5304,NULL,'Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25740,'NCBI Gene PubMed Count',NULL,5304,NULL,NULL,NULL,28,NULL,NULL,NULL),(25741,'NCBI Gene Summary',NULL,5305,NULL,'This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their target membranes. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(25742,'NCBI Gene PubMed Count',NULL,5305,NULL,NULL,NULL,67,NULL,NULL,NULL),(25743,'NCBI Gene Summary',NULL,5306,NULL,'This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(25744,'NCBI Gene PubMed Count',NULL,5306,NULL,NULL,NULL,35,NULL,NULL,NULL),(25745,'NCBI Gene Summary',NULL,5307,NULL,'The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(25746,'NCBI Gene PubMed Count',NULL,5307,NULL,NULL,NULL,26,NULL,NULL,NULL),(25747,'NCBI Gene Summary',NULL,5308,NULL,'This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(25748,'NCBI Gene PubMed Count',NULL,5308,NULL,NULL,NULL,35,NULL,NULL,NULL),(25749,'NCBI Gene Summary',NULL,5309,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25750,'NCBI Gene PubMed Count',NULL,5309,NULL,NULL,NULL,38,NULL,NULL,NULL),(25751,'NCBI Gene Summary',NULL,5310,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\'\', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25752,'NCBI Gene PubMed Count',NULL,5310,NULL,NULL,NULL,62,NULL,NULL,NULL),(25753,'NCBI Gene Summary',NULL,5311,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25754,'NCBI Gene PubMed Count',NULL,5311,NULL,NULL,NULL,40,NULL,NULL,NULL),(25755,'NCBI Gene PubMed Count',NULL,5312,NULL,NULL,NULL,18,NULL,NULL,NULL),(25756,'NCBI Gene Summary',NULL,5313,NULL,'Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25757,'NCBI Gene PubMed Count',NULL,5313,NULL,NULL,NULL,10,NULL,NULL,NULL),(25758,'NCBI Gene PubMed Count',NULL,5314,NULL,NULL,NULL,18,NULL,NULL,NULL),(25759,'NCBI Gene Summary',NULL,5316,NULL,'U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25760,'NCBI Gene PubMed Count',NULL,5316,NULL,NULL,NULL,107,NULL,NULL,NULL),(25761,'NCBI Gene PubMed Count',NULL,5317,NULL,NULL,NULL,15,NULL,NULL,NULL),(25762,'NCBI Gene Summary',NULL,5318,NULL,'This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25763,'NCBI Gene PubMed Count',NULL,5318,NULL,NULL,NULL,34,NULL,NULL,NULL),(25764,'NCBI Gene PubMed Count',NULL,5319,NULL,NULL,NULL,14,NULL,NULL,NULL),(25765,'NCBI Gene Summary',NULL,5320,NULL,'The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(25766,'NCBI Gene PubMed Count',NULL,5320,NULL,NULL,NULL,46,NULL,NULL,NULL),(25767,'NCBI Gene Summary',NULL,5321,NULL,'This gene encodes a member of the basic helix-loop-helix leucine zipper family of transcription factors. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs and is involved in regulating multiple cellular processes. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(25768,'NCBI Gene PubMed Count',NULL,5321,NULL,NULL,NULL,66,NULL,NULL,NULL),(25769,'NCBI Gene PubMed Count',NULL,5322,NULL,NULL,NULL,10,NULL,NULL,NULL),(25770,'NCBI Gene Summary',NULL,5323,NULL,'This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(25771,'NCBI Gene PubMed Count',NULL,5323,NULL,NULL,NULL,23,NULL,NULL,NULL),(25772,'NCBI Gene PubMed Count',NULL,5324,NULL,NULL,NULL,13,NULL,NULL,NULL),(25773,'NCBI Gene PubMed Count',NULL,5325,NULL,NULL,NULL,16,NULL,NULL,NULL),(25774,'NCBI Gene Summary',NULL,5326,NULL,'This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(25775,'NCBI Gene PubMed Count',NULL,5326,NULL,NULL,NULL,20,NULL,NULL,NULL),(25776,'NCBI Gene Summary',NULL,5327,NULL,'This gene encodes a highly conserved metalloprotein. A similar protein in bacteria acts as an endoribonuclease, and is thought to function in ribosomal RNA maturation and ribosome assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(25777,'NCBI Gene PubMed Count',NULL,5327,NULL,NULL,NULL,7,NULL,NULL,NULL),(25778,'NCBI Gene Summary',NULL,5328,NULL,'This gene encodes a nucleic acid binding protein which is highly expressed in germ cells. The encoded protein binds to a Y-box element in the promoters of certain genes but also binds to mRNA transcribed from these genes. Pseudogenes for this gene are located on chromosome 10 and 15. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(25779,'NCBI Gene PubMed Count',NULL,5328,NULL,NULL,NULL,15,NULL,NULL,NULL),(25780,'NCBI Gene PubMed Count',NULL,5329,NULL,NULL,NULL,34,NULL,NULL,NULL),(25781,'NCBI Gene Summary',NULL,5333,NULL,'The protein encoded by this gene functions as a cofactor that modulates androgen receptor-dependent transcription, and also plays a critical role in tumor necrosis factor-induced apoptosis. Expression of this gene may play a role in tumorigenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(25782,'NCBI Gene PubMed Count',NULL,5333,NULL,NULL,NULL,40,NULL,NULL,NULL),(25783,'NCBI Gene Summary',NULL,5334,NULL,'The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25784,'NCBI Gene PubMed Count',NULL,5334,NULL,NULL,NULL,89,NULL,NULL,NULL),(25785,'NCBI Gene PubMed Count',NULL,5335,NULL,NULL,NULL,13,NULL,NULL,NULL),(25786,'NCBI Gene Summary',NULL,5336,NULL,'This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(25787,'NCBI Gene PubMed Count',NULL,5336,NULL,NULL,NULL,27,NULL,NULL,NULL),(25788,'NCBI Gene Summary',NULL,5337,NULL,'This gene encodes a large protein that contains a helix-loop-helix domain and a polyglutamine region. A deletion in the polyglutamine region was associated with risk for thyroid carcinoma. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(25789,'NCBI Gene PubMed Count',NULL,5337,NULL,NULL,NULL,5,NULL,NULL,NULL),(25790,'NCBI Gene Summary',NULL,5338,NULL,'This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(25791,'NCBI Gene PubMed Count',NULL,5338,NULL,NULL,NULL,23,NULL,NULL,NULL),(25792,'NCBI Gene PubMed Count',NULL,5339,NULL,NULL,NULL,14,NULL,NULL,NULL),(25793,'NCBI Gene Summary',NULL,5340,NULL,'The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(25794,'NCBI Gene PubMed Count',NULL,5340,NULL,NULL,NULL,30,NULL,NULL,NULL),(25795,'NCBI Gene Summary',NULL,5341,NULL,'This gene encodes a member of the secretoglobin family of small secreted proteins. The encoded protein has been implicated in numerous functions including anti-inflammation, inhibition of phospholipase A2 and the sequestering of hydrophobic ligands. Defects in this gene are associated with a susceptibility to asthma. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(25796,'NCBI Gene PubMed Count',NULL,5341,NULL,NULL,NULL,158,NULL,NULL,NULL),(25797,'NCBI Gene PubMed Count',NULL,5342,NULL,NULL,NULL,17,NULL,NULL,NULL),(25798,'NCBI Gene PubMed Count',NULL,5343,NULL,NULL,NULL,16,NULL,NULL,NULL),(25799,'NCBI Gene PubMed Count',NULL,5344,NULL,NULL,NULL,27,NULL,NULL,NULL),(25800,'NCBI Gene Summary',NULL,5345,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25801,'NCBI Gene PubMed Count',NULL,5345,NULL,NULL,NULL,33,NULL,NULL,NULL),(25802,'NCBI Gene Summary',NULL,5346,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\", and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(25803,'NCBI Gene PubMed Count',NULL,5346,NULL,NULL,NULL,48,NULL,NULL,NULL),(25804,'NCBI Gene Summary',NULL,5347,NULL,'This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(25805,'NCBI Gene PubMed Count',NULL,5347,NULL,NULL,NULL,38,NULL,NULL,NULL),(25806,'NCBI Gene Summary',NULL,5348,NULL,'The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25807,'NCBI Gene PubMed Count',NULL,5348,NULL,NULL,NULL,7,NULL,NULL,NULL),(25808,'NCBI Gene PubMed Count',NULL,5349,NULL,NULL,NULL,3,NULL,NULL,NULL),(25809,'NCBI Gene PubMed Count',NULL,5350,NULL,NULL,NULL,0,NULL,NULL,NULL),(25810,'NCBI Gene PubMed Count',NULL,5351,NULL,NULL,NULL,19,NULL,NULL,NULL),(25811,'NCBI Gene Summary',NULL,5352,NULL,'Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25812,'NCBI Gene PubMed Count',NULL,5352,NULL,NULL,NULL,34,NULL,NULL,NULL),(25813,'NCBI Gene PubMed Count',NULL,5354,NULL,NULL,NULL,36,NULL,NULL,NULL),(25814,'NCBI Gene PubMed Count',NULL,5355,NULL,NULL,NULL,14,NULL,NULL,NULL),(25815,'NCBI Gene Summary',NULL,5356,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(25816,'NCBI Gene PubMed Count',NULL,5356,NULL,NULL,NULL,71,NULL,NULL,NULL),(25817,'NCBI Gene Summary',NULL,5357,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25818,'NCBI Gene PubMed Count',NULL,5357,NULL,NULL,NULL,25,NULL,NULL,NULL),(25819,'NCBI Gene PubMed Count',NULL,5358,NULL,NULL,NULL,13,NULL,NULL,NULL),(25820,'NCBI Gene PubMed Count',NULL,5359,NULL,NULL,NULL,22,NULL,NULL,NULL),(25821,'NCBI Gene Summary',NULL,5360,NULL,'The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(25822,'NCBI Gene PubMed Count',NULL,5360,NULL,NULL,NULL,60,NULL,NULL,NULL),(25823,'NCBI Gene Summary',NULL,5361,NULL,'UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(25824,'NCBI Gene PubMed Count',NULL,5361,NULL,NULL,NULL,23,NULL,NULL,NULL),(25825,'NCBI Gene Summary',NULL,5362,NULL,'This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25826,'NCBI Gene PubMed Count',NULL,5362,NULL,NULL,NULL,224,NULL,NULL,NULL),(25827,'NCBI Gene Summary',NULL,5363,NULL,'This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25828,'NCBI Gene PubMed Count',NULL,5363,NULL,NULL,NULL,31,NULL,NULL,NULL),(25829,'NCBI Gene Summary',NULL,5364,NULL,'The protein encoded by this gene binds proteins of the TEA domain family of transcription factors (TEFs) through the Vg (vestigial) homology region found in its N-terminus. It may thus function as a specific coactivator for the mammalian TEFs. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(25830,'NCBI Gene PubMed Count',NULL,5364,NULL,NULL,NULL,6,NULL,NULL,NULL),(25831,'NCBI Gene Summary',NULL,5365,NULL,'This gene encodes a protein with a transcriptional enhancer factor 1 (TEF-1) interaction domain. The encoded protein may act as a co-factor of TEF-1 regulated gene expression during skeletal muscle development. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(25832,'NCBI Gene PubMed Count',NULL,5365,NULL,NULL,NULL,11,NULL,NULL,NULL),(25833,'NCBI Gene PubMed Count',NULL,5366,NULL,NULL,NULL,28,NULL,NULL,NULL),(25834,'NCBI Gene Summary',NULL,5367,NULL,'This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25835,'NCBI Gene PubMed Count',NULL,5367,NULL,NULL,NULL,118,NULL,NULL,NULL),(25836,'NCBI Gene PubMed Count',NULL,5368,NULL,NULL,NULL,25,NULL,NULL,NULL),(25837,'NCBI Gene Summary',NULL,5369,NULL,'This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(25838,'NCBI Gene PubMed Count',NULL,5369,NULL,NULL,NULL,18,NULL,NULL,NULL),(25839,'NCBI Gene Summary',NULL,5370,NULL,'The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(25840,'NCBI Gene PubMed Count',NULL,5370,NULL,NULL,NULL,34,NULL,NULL,NULL),(25841,'NCBI Gene Summary',NULL,5375,NULL,'Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that selectively ubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription factor for proteasome-mediated degradation. Inactivation of VHL causes VHL disease and sporadic kidney cancer. This gene encodes a VHL homolog that lacks one of two key domains necessary for VHL function. This gene may contribute to the regulation of oxygen homeostasis and neovascularization during placenta development. This gene is intronless, and can also be interpreted as a retrotransposed pseudogene of the VHL locus located on chromosome 3. However, the protein is represented in this RefSeq due to evidence in PMID:14757845 that strongly suggests it is translated. The same publication also indicates that this protein binds HIF alpha but fails to recruit the E3 ubiquitin ligase complex, and it therefore functions as a dominant-negative VHL protein and a protector of HIF alpha. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(25842,'NCBI Gene PubMed Count',NULL,5375,NULL,NULL,NULL,7,NULL,NULL,NULL),(25843,'NCBI Gene Summary',NULL,5376,NULL,'Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25844,'NCBI Gene PubMed Count',NULL,5376,NULL,NULL,NULL,595,NULL,NULL,NULL),(25845,'NCBI Gene Summary',NULL,5377,NULL,'The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25846,'NCBI Gene PubMed Count',NULL,5377,NULL,NULL,NULL,17,NULL,NULL,NULL),(25847,'NCBI Gene Summary',NULL,5378,NULL,'Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25848,'NCBI Gene PubMed Count',NULL,5378,NULL,NULL,NULL,155,NULL,NULL,NULL),(25849,'NCBI Gene PubMed Count',NULL,5379,NULL,NULL,NULL,7,NULL,NULL,NULL),(25850,'NCBI Gene PubMed Count',NULL,5380,NULL,NULL,NULL,28,NULL,NULL,NULL),(25851,'NCBI Gene PubMed Count',NULL,5381,NULL,NULL,NULL,4,NULL,NULL,NULL),(25852,'NCBI Gene PubMed Count',NULL,5382,NULL,NULL,NULL,11,NULL,NULL,NULL),(25853,'NCBI Gene PubMed Count',NULL,5383,NULL,NULL,NULL,15,NULL,NULL,NULL),(25854,'NCBI Gene PubMed Count',NULL,5384,NULL,NULL,NULL,9,NULL,NULL,NULL),(25855,'NCBI Gene Summary',NULL,5385,NULL,'This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(25856,'NCBI Gene PubMed Count',NULL,5385,NULL,NULL,NULL,79,NULL,NULL,NULL),(25857,'NCBI Gene Summary',NULL,5386,NULL,'Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(25858,'NCBI Gene PubMed Count',NULL,5386,NULL,NULL,NULL,8,NULL,NULL,NULL),(25859,'NCBI Gene PubMed Count',NULL,5387,NULL,NULL,NULL,8,NULL,NULL,NULL),(25860,'NCBI Gene PubMed Count',NULL,5388,NULL,NULL,NULL,19,NULL,NULL,NULL),(25861,'NCBI Gene Summary',NULL,5389,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(25862,'NCBI Gene PubMed Count',NULL,5389,NULL,NULL,NULL,41,NULL,NULL,NULL),(25863,'NCBI Gene Summary',NULL,5390,NULL,'This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25864,'NCBI Gene PubMed Count',NULL,5390,NULL,NULL,NULL,179,NULL,NULL,NULL),(25865,'NCBI Gene Summary',NULL,5391,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by the UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(25866,'NCBI Gene PubMed Count',NULL,5391,NULL,NULL,NULL,34,NULL,NULL,NULL),(25867,'NCBI Gene Summary',NULL,5392,NULL,'This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(25868,'NCBI Gene PubMed Count',NULL,5392,NULL,NULL,NULL,14,NULL,NULL,NULL),(25869,'NCBI Gene Summary',NULL,5393,NULL,'The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(25870,'NCBI Gene PubMed Count',NULL,5393,NULL,NULL,NULL,143,NULL,NULL,NULL),(25871,'NCBI Gene Summary',NULL,5394,NULL,'Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(25872,'NCBI Gene PubMed Count',NULL,5394,NULL,NULL,NULL,60,NULL,NULL,NULL),(25873,'NCBI Gene PubMed Count',NULL,5395,NULL,NULL,NULL,3,NULL,NULL,NULL),(25874,'NCBI Gene Summary',NULL,5396,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25875,'NCBI Gene PubMed Count',NULL,5396,NULL,NULL,NULL,19,NULL,NULL,NULL),(25876,'NCBI Gene PubMed Count',NULL,5397,NULL,NULL,NULL,10,NULL,NULL,NULL),(25877,'NCBI Gene Summary',NULL,5398,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(25878,'NCBI Gene PubMed Count',NULL,5398,NULL,NULL,NULL,84,NULL,NULL,NULL),(25879,'NCBI Gene PubMed Count',NULL,5399,NULL,NULL,NULL,1,NULL,NULL,NULL),(25880,'NCBI Gene Summary',NULL,5400,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(25881,'NCBI Gene PubMed Count',NULL,5400,NULL,NULL,NULL,39,NULL,NULL,NULL),(25882,'NCBI Gene PubMed Count',NULL,5401,NULL,NULL,NULL,10,NULL,NULL,NULL),(25883,'NCBI Gene PubMed Count',NULL,5402,NULL,NULL,NULL,3,NULL,NULL,NULL),(25884,'NCBI Gene Summary',NULL,5403,NULL,'This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide metabolism, specifically the pyrimidine salvage pathway. The enzyme localizes to the nucleus and cytoplasm. The protein is a potential target for rational design of drugs to treat parasitic infections and cancer. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(25885,'NCBI Gene PubMed Count',NULL,5403,NULL,NULL,NULL,11,NULL,NULL,NULL),(25886,'NCBI Gene PubMed Count',NULL,5404,NULL,NULL,NULL,11,NULL,NULL,NULL),(25887,'NCBI Gene PubMed Count',NULL,5408,NULL,NULL,NULL,13,NULL,NULL,NULL),(25888,'NCBI Gene Summary',NULL,5409,NULL,'URG4 is upregulated in the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carcinoma by promoting hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25889,'NCBI Gene PubMed Count',NULL,5409,NULL,NULL,NULL,25,NULL,NULL,NULL),(25890,'NCBI Gene PubMed Count',NULL,5410,NULL,NULL,NULL,11,NULL,NULL,NULL),(25891,'NCBI Gene PubMed Count',NULL,5411,NULL,NULL,NULL,18,NULL,NULL,NULL),(25892,'NCBI Gene Summary',NULL,5412,NULL,'This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(25893,'NCBI Gene PubMed Count',NULL,5412,NULL,NULL,NULL,137,NULL,NULL,NULL),(25894,'NCBI Gene PubMed Count',NULL,5413,NULL,NULL,NULL,55,NULL,NULL,NULL),(25895,'NCBI Gene PubMed Count',NULL,5414,NULL,NULL,NULL,18,NULL,NULL,NULL),(25896,'NCBI Gene PubMed Count',NULL,5415,NULL,NULL,NULL,18,NULL,NULL,NULL),(25897,'NCBI Gene PubMed Count',NULL,5416,NULL,NULL,NULL,14,NULL,NULL,NULL),(25898,'NCBI Gene PubMed Count',NULL,5418,NULL,NULL,NULL,5,NULL,NULL,NULL),(25899,'NCBI Gene Summary',NULL,5419,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(25900,'NCBI Gene PubMed Count',NULL,5419,NULL,NULL,NULL,59,NULL,NULL,NULL),(25901,'NCBI Gene Summary',NULL,5420,NULL,'Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(25902,'NCBI Gene PubMed Count',NULL,5420,NULL,NULL,NULL,10,NULL,NULL,NULL),(25903,'NCBI Gene Summary',NULL,5421,NULL,'This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(25904,'NCBI Gene PubMed Count',NULL,5421,NULL,NULL,NULL,637,NULL,NULL,NULL),(25905,'NCBI Gene Summary',NULL,5424,NULL,'This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(25906,'NCBI Gene PubMed Count',NULL,5424,NULL,NULL,NULL,62,NULL,NULL,NULL),(25907,'NCBI Gene Summary',NULL,5425,NULL,'The protein encoded by this gene is a leucine zipper-containing transcriptional coactivator that may link the upstream activator ATF2 with the basal transcription complex. The encoded protein is closely associated with chromatin and is required for the proper differentiation of embryonic carcinoma and embryonic stem cells. Found nearly exclusively in pluripotent cells, this protein can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(25908,'NCBI Gene PubMed Count',NULL,5425,NULL,NULL,NULL,15,NULL,NULL,NULL),(25909,'NCBI Gene Summary',NULL,5426,NULL,'This gene encodes a member of the taxilin family. The encoded protein binds to the C-terminal coiled-coil region of syntaxin family members 1A, 3A and 4A, and may play a role in intracellular vesicle trafficking. This gene is up-regulated by lipopolysaccharide and the gene product may be involved in cell cycle regulation. The related mouse protein was also shown to inhibit activating transcription factor 4-mediated transcription and thus regulate bone mass accrual. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(25910,'NCBI Gene PubMed Count',NULL,5426,NULL,NULL,NULL,12,NULL,NULL,NULL),(25911,'NCBI Gene Summary',NULL,5427,NULL,'This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(25912,'NCBI Gene PubMed Count',NULL,5427,NULL,NULL,NULL,157,NULL,NULL,NULL),(25913,'NCBI Gene Summary',NULL,5428,NULL,'The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25914,'NCBI Gene PubMed Count',NULL,5428,NULL,NULL,NULL,220,NULL,NULL,NULL),(25915,'NCBI Gene Summary',NULL,5429,NULL,'The protein encoded by this gene is a member of the thioredoxin family. The exact function of this protein is not known but it is associated with cell differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25916,'NCBI Gene PubMed Count',NULL,5429,NULL,NULL,NULL,13,NULL,NULL,NULL),(25917,'NCBI Gene Summary',NULL,5430,NULL,'The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(25918,'NCBI Gene PubMed Count',NULL,5430,NULL,NULL,NULL,60,NULL,NULL,NULL),(25919,'NCBI Gene Summary',NULL,5431,NULL,'This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25920,'NCBI Gene PubMed Count',NULL,5431,NULL,NULL,NULL,141,NULL,NULL,NULL),(25921,'NCBI Gene PubMed Count',NULL,5432,NULL,NULL,NULL,19,NULL,NULL,NULL),(25922,'NCBI Gene PubMed Count',NULL,5433,NULL,NULL,NULL,18,NULL,NULL,NULL),(25923,'NCBI Gene Summary',NULL,5434,NULL,'Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(25924,'NCBI Gene PubMed Count',NULL,5434,NULL,NULL,NULL,52,NULL,NULL,NULL),(25925,'NCBI Gene Summary',NULL,5436,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(25926,'NCBI Gene PubMed Count',NULL,5436,NULL,NULL,NULL,34,NULL,NULL,NULL),(25927,'NCBI Gene PubMed Count',NULL,5437,NULL,NULL,NULL,26,NULL,NULL,NULL),(25928,'NCBI Gene Summary',NULL,5438,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(25929,'NCBI Gene PubMed Count',NULL,5438,NULL,NULL,NULL,91,NULL,NULL,NULL),(25930,'NCBI Gene Summary',NULL,5439,NULL,'The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(25931,'NCBI Gene PubMed Count',NULL,5439,NULL,NULL,NULL,31,NULL,NULL,NULL),(25932,'NCBI Gene Summary',NULL,5440,NULL,'TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25933,'NCBI Gene PubMed Count',NULL,5440,NULL,NULL,NULL,11,NULL,NULL,NULL),(25934,'NCBI Gene Summary',NULL,5441,NULL,'Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25935,'NCBI Gene PubMed Count',NULL,5441,NULL,NULL,NULL,8,NULL,NULL,NULL),(25936,'NCBI Gene Summary',NULL,5442,NULL,'This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(25937,'NCBI Gene PubMed Count',NULL,5442,NULL,NULL,NULL,48,NULL,NULL,NULL),(25938,'NCBI Gene PubMed Count',NULL,5443,NULL,NULL,NULL,10,NULL,NULL,NULL),(25939,'NCBI Gene Summary',NULL,5444,NULL,'Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(25940,'NCBI Gene PubMed Count',NULL,5444,NULL,NULL,NULL,533,NULL,NULL,NULL),(25941,'NCBI Gene PubMed Count',NULL,5445,NULL,NULL,NULL,18,NULL,NULL,NULL),(25942,'NCBI Gene PubMed Count',NULL,5446,NULL,NULL,NULL,18,NULL,NULL,NULL),(25943,'NCBI Gene PubMed Count',NULL,5447,NULL,NULL,NULL,18,NULL,NULL,NULL),(25944,'NCBI Gene PubMed Count',NULL,5448,NULL,NULL,NULL,16,NULL,NULL,NULL),(25945,'NCBI Gene PubMed Count',NULL,5449,NULL,NULL,NULL,14,NULL,NULL,NULL),(25946,'NCBI Gene Summary',NULL,5450,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family and catalyzes the covalent attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25947,'NCBI Gene PubMed Count',NULL,5450,NULL,NULL,NULL,20,NULL,NULL,NULL),(25948,'NCBI Gene Summary',NULL,5451,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25949,'NCBI Gene PubMed Count',NULL,5451,NULL,NULL,NULL,13,NULL,NULL,NULL),(25950,'NCBI Gene PubMed Count',NULL,5452,NULL,NULL,NULL,13,NULL,NULL,NULL),(25951,'NCBI Gene Summary',NULL,5453,NULL,'Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(25952,'NCBI Gene PubMed Count',NULL,5453,NULL,NULL,NULL,24,NULL,NULL,NULL),(25953,'NCBI Gene PubMed Count',NULL,5454,NULL,NULL,NULL,4,NULL,NULL,NULL),(25954,'NCBI Gene PubMed Count',NULL,5455,NULL,NULL,NULL,10,NULL,NULL,NULL),(25955,'NCBI Gene Summary',NULL,5456,NULL,'This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(25956,'NCBI Gene PubMed Count',NULL,5456,NULL,NULL,NULL,136,NULL,NULL,NULL),(25957,'NCBI Gene Summary',NULL,5457,NULL,'This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(25958,'NCBI Gene PubMed Count',NULL,5457,NULL,NULL,NULL,101,NULL,NULL,NULL),(25959,'NCBI Gene Summary',NULL,5458,NULL,'During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(25960,'NCBI Gene PubMed Count',NULL,5458,NULL,NULL,NULL,17,NULL,NULL,NULL),(25961,'NCBI Gene PubMed Count',NULL,5459,NULL,NULL,NULL,88,NULL,NULL,NULL),(25962,'NCBI Gene Summary',NULL,5460,NULL,'This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25963,'NCBI Gene PubMed Count',NULL,5460,NULL,NULL,NULL,39,NULL,NULL,NULL),(25964,'NCBI Gene Summary',NULL,5461,NULL,'The protein encoded by this gene has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a unique N terminus, lack of myristylation signals, lack of a negative regulatory phosphorylation site, and lack of an autophosphorylation site. This protein is thought to play a significant role in the signal transduction of hematopoietic cells. It is able to phosphorylate and inactivate Src family kinases, and may play an inhibitory role in the control of T-cell proliferation. This protein might be involved in signaling in some cases of breast cancer. Three alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25965,'NCBI Gene PubMed Count',NULL,5461,NULL,NULL,NULL,44,NULL,NULL,NULL),(25966,'NCBI Gene PubMed Count',NULL,5462,NULL,NULL,NULL,24,NULL,NULL,NULL),(25967,'NCBI Gene Summary',NULL,5463,NULL,'Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G that contains the binding sites for eIF4A and eIF3; eIF4G, in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G, which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. In vitro and in vivo studies indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25968,'NCBI Gene PubMed Count',NULL,5463,NULL,NULL,NULL,59,NULL,NULL,NULL),(25969,'NCBI Gene PubMed Count',NULL,5464,NULL,NULL,NULL,18,NULL,NULL,NULL),(25970,'NCBI Gene Summary',NULL,5465,NULL,'The protein encoded by this gene is an interferon and possesses antiviral activity. The encoded protein binds to the interferon alpha/beta receptor but not to the interferon gamma receptor. This intronless gene has several pseudogenes spread throughout the genome. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(25971,'NCBI Gene PubMed Count',NULL,5465,NULL,NULL,NULL,22,NULL,NULL,NULL),(25972,'NCBI Gene PubMed Count',NULL,5466,NULL,NULL,NULL,14,NULL,NULL,NULL),(25973,'NCBI Gene Summary',NULL,5467,NULL,'This gene encodes a protein containing tetratricopeptide repeats that was originally identified as induced upon treatment with interferon. The encoded protein may inhibit viral replication and translational initiation. This gene is located in a cluster on chromosome 10 with five other closely related genes. There is a pseudogene for this gene on chromosome 13. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(25974,'NCBI Gene PubMed Count',NULL,5467,NULL,NULL,NULL,57,NULL,NULL,NULL),(25975,'NCBI Gene Summary',NULL,5468,NULL,'This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(25976,'NCBI Gene PubMed Count',NULL,5468,NULL,NULL,NULL,20,NULL,NULL,NULL),(25977,'NCBI Gene PubMed Count',NULL,5469,NULL,NULL,NULL,29,NULL,NULL,NULL),(25978,'NCBI Gene Summary',NULL,5470,NULL,'Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see MIM 147070), joining (J) genes (see MIM 147010), and diversity (D) genes (see MIM 146910). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. The IGHM gene encodes the C region of the mu heavy chain, which defines the IgM isotype. Naive B cells express the transmembrane forms of IgM and IgD (see IGHD; MIM 1471770) on their surface. During an antibody response, activated B cells can switch to the expression of individual downstream heavy chain C region genes by a process of somatic recombination known as isotype switching. In addition, secreted Ig forms that act as antibodies can be produced by alternative RNA processing of the heavy chain C region sequences. Although the membrane forms of all Ig isotypes are monomeric, secreted IgM forms pentamers, and occasionally hexamers, in plasma (summary by Janeway et al., 2005).[supplied by OMIM, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(25979,'NCBI Gene PubMed Count',NULL,5470,NULL,NULL,NULL,37,NULL,NULL,NULL),(25980,'NCBI Gene Summary',NULL,5471,NULL,'The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(25981,'NCBI Gene PubMed Count',NULL,5471,NULL,NULL,NULL,9,NULL,NULL,NULL),(25982,'NCBI Gene PubMed Count',NULL,5472,NULL,NULL,NULL,41,NULL,NULL,NULL),(25983,'NCBI Gene Summary',NULL,5474,NULL,'This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(25984,'NCBI Gene PubMed Count',NULL,5474,NULL,NULL,NULL,51,NULL,NULL,NULL),(25985,'NCBI Gene Summary',NULL,5475,NULL,'This gene encodes an immunoregulatory cytokine produced primarily by activated Th2 cells. This cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines. This cytokine is found to be critical to the pathogenesis of allergen-induced asthma but operates through mechanisms independent of IgE and eosinophils. This gene, IL3, IL5, IL4, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL4. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25986,'NCBI Gene PubMed Count',NULL,5475,NULL,NULL,NULL,603,NULL,NULL,NULL),(25987,'NCBI Gene Summary',NULL,5476,NULL,'This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25988,'NCBI Gene PubMed Count',NULL,5476,NULL,NULL,NULL,158,NULL,NULL,NULL),(25989,'NCBI Gene Summary',NULL,5477,NULL,'This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(25990,'NCBI Gene PubMed Count',NULL,5477,NULL,NULL,NULL,274,NULL,NULL,NULL),(25991,'NCBI Gene Summary',NULL,5478,NULL,'The protein encoded by this gene is a member of the interleukin 1 receptor family. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(25992,'NCBI Gene PubMed Count',NULL,5478,NULL,NULL,NULL,32,NULL,NULL,NULL),(25993,'NCBI Gene Summary',NULL,5479,NULL,'This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein (NF90, ILF3) forms a heterodimer with a 45 kDa transcription factor (NF45, ILF2) required for T-cell expression of interleukin 2. This complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(25994,'NCBI Gene PubMed Count',NULL,5479,NULL,NULL,NULL,104,NULL,NULL,NULL),(25995,'NCBI Gene PubMed Count',NULL,5480,NULL,NULL,NULL,3,NULL,NULL,NULL),(25996,'NCBI Gene PubMed Count',NULL,5481,NULL,NULL,NULL,7,NULL,NULL,NULL),(25997,'NCBI Gene Summary',NULL,5482,NULL,'This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(25998,'NCBI Gene PubMed Count',NULL,5482,NULL,NULL,NULL,124,NULL,NULL,NULL),(25999,'NCBI Gene PubMed Count',NULL,5483,NULL,NULL,NULL,8,NULL,NULL,NULL),(26000,'NCBI Gene Summary',NULL,5484,NULL,'This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26001,'NCBI Gene PubMed Count',NULL,5484,NULL,NULL,NULL,198,NULL,NULL,NULL),(26002,'NCBI Gene PubMed Count',NULL,5485,NULL,NULL,NULL,8,NULL,NULL,NULL),(26003,'NCBI Gene Summary',NULL,5486,NULL,'This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(26004,'NCBI Gene PubMed Count',NULL,5486,NULL,NULL,NULL,23,NULL,NULL,NULL),(26005,'NCBI Gene Summary',NULL,5487,NULL,'The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(26006,'NCBI Gene PubMed Count',NULL,5487,NULL,NULL,NULL,47,NULL,NULL,NULL),(26007,'NCBI Gene Summary',NULL,5488,NULL,'This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26008,'NCBI Gene PubMed Count',NULL,5488,NULL,NULL,NULL,63,NULL,NULL,NULL),(26009,'NCBI Gene Summary',NULL,5489,NULL,'This gene encodes a chromatin-associated protein involved in the regulation of gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of AT-rich regions in double-stranded DNA. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been identified on multiple chromosomes. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(26010,'NCBI Gene PubMed Count',NULL,5489,NULL,NULL,NULL,223,NULL,NULL,NULL),(26011,'NCBI Gene Summary',NULL,5490,NULL,'This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(26012,'NCBI Gene PubMed Count',NULL,5490,NULL,NULL,NULL,29,NULL,NULL,NULL),(26013,'NCBI Gene Summary',NULL,5491,NULL,'This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a minor histocompatibility antigen. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(26014,'NCBI Gene PubMed Count',NULL,5491,NULL,NULL,NULL,3,NULL,NULL,NULL),(26015,'NCBI Gene PubMed Count',NULL,5492,NULL,NULL,NULL,20,NULL,NULL,NULL),(26016,'NCBI Gene Summary',NULL,5493,NULL,'This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(26017,'NCBI Gene PubMed Count',NULL,5493,NULL,NULL,NULL,13,NULL,NULL,NULL),(26018,'NCBI Gene Summary',NULL,5494,NULL,'Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(26019,'NCBI Gene PubMed Count',NULL,5494,NULL,NULL,NULL,94,NULL,NULL,NULL),(26020,'NCBI Gene Summary',NULL,5495,NULL,'The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(26021,'NCBI Gene PubMed Count',NULL,5495,NULL,NULL,NULL,22,NULL,NULL,NULL),(26022,'NCBI Gene Summary',NULL,5496,NULL,'This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26023,'NCBI Gene PubMed Count',NULL,5496,NULL,NULL,NULL,422,NULL,NULL,NULL),(26024,'NCBI Gene Summary',NULL,5497,NULL,'The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(26025,'NCBI Gene PubMed Count',NULL,5497,NULL,NULL,NULL,586,NULL,NULL,NULL),(26026,'NCBI Gene Summary',NULL,5498,NULL,'This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3\' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26027,'NCBI Gene PubMed Count',NULL,5498,NULL,NULL,NULL,11,NULL,NULL,NULL),(26028,'NCBI Gene PubMed Count',NULL,5500,NULL,NULL,NULL,4,NULL,NULL,NULL),(26029,'NCBI Gene Summary',NULL,5501,NULL,'This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(26030,'NCBI Gene PubMed Count',NULL,5501,NULL,NULL,NULL,239,NULL,NULL,NULL),(26031,'NCBI Gene PubMed Count',NULL,5502,NULL,NULL,NULL,9,NULL,NULL,NULL),(26032,'NCBI Gene Summary',NULL,5503,NULL,'This gene encodes a protein component of the little elongation complex (LEC), which plays a role in small nuclear RNA (snRNA) transcription. The LEC regulates snRNA transcription by enhancing both RNA Polymerase II occupancy and transcriptional elongation. The encoded protein and other LEC components have been shown to localize to Cajal bodies, which are sites of ribonucleoprotein (RNP) complex assembly. Pseudogenes of this gene have been identified on chromosomes 3 and 4. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(26033,'NCBI Gene PubMed Count',NULL,5503,NULL,NULL,NULL,13,NULL,NULL,NULL),(26034,'NCBI Gene PubMed Count',NULL,5504,NULL,NULL,NULL,15,NULL,NULL,NULL),(26035,'NCBI Gene Summary',NULL,5505,NULL,'Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26036,'NCBI Gene PubMed Count',NULL,5505,NULL,NULL,NULL,25,NULL,NULL,NULL),(26037,'NCBI Gene Summary',NULL,5506,NULL,'This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(26038,'NCBI Gene PubMed Count',NULL,5506,NULL,NULL,NULL,34,NULL,NULL,NULL),(26039,'NCBI Gene Summary',NULL,5507,NULL,'This gene encodes the third of three enzymes that posttranslationally modify isoprenylated C-terminal cysteine residues in certain proteins and target those proteins to the cell membrane. This enzyme localizes to the endoplasmic reticulum. Alternative splicing may result in other transcript variants, but the biological validity of those transcripts has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26040,'NCBI Gene PubMed Count',NULL,5507,NULL,NULL,NULL,25,NULL,NULL,NULL),(26041,'NCBI Gene PubMed Count',NULL,5508,NULL,NULL,NULL,0,NULL,NULL,NULL),(26042,'NCBI Gene Summary',NULL,5509,NULL,'The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26043,'NCBI Gene PubMed Count',NULL,5509,NULL,NULL,NULL,144,NULL,NULL,NULL),(26044,'NCBI Gene Summary',NULL,5510,NULL,'The protein encoded by this gene is a peptidyl-tRNA hydrolase and a vital component of the large mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial genes. This protein may be responsible for degrading prematurely-terminated polypeptides and for reusing stalled ribosomes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(26045,'NCBI Gene PubMed Count',NULL,5510,NULL,NULL,NULL,25,NULL,NULL,NULL),(26046,'NCBI Gene Summary',NULL,5511,NULL,'The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26047,'NCBI Gene PubMed Count',NULL,5511,NULL,NULL,NULL,245,NULL,NULL,NULL),(26048,'NCBI Gene PubMed Count',NULL,5512,NULL,NULL,NULL,2,NULL,NULL,NULL),(26049,'NCBI Gene Summary',NULL,5513,NULL,'The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(26050,'NCBI Gene PubMed Count',NULL,5513,NULL,NULL,NULL,130,NULL,NULL,NULL),(26051,'NCBI Gene Summary',NULL,5514,NULL,'The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(26052,'NCBI Gene PubMed Count',NULL,5514,NULL,NULL,NULL,88,NULL,NULL,NULL),(26053,'NCBI Gene Summary',NULL,5515,NULL,'This gene encodes a member of the inhibitor of DNA binding (ID) protein family. The encoded protein lacks DNA binding ability, and instead regulates gene expression through binding to and inhibiting basic helix-loop-helix transcription factors. This protein has been implicated in the regulation of diverse cellular processes that play a role in development and tumorigenesis. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(26054,'NCBI Gene PubMed Count',NULL,5515,NULL,NULL,NULL,88,NULL,NULL,NULL),(26055,'NCBI Gene PubMed Count',NULL,5516,NULL,NULL,NULL,4,NULL,NULL,NULL),(26056,'NCBI Gene Summary',NULL,5517,NULL,'Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(26057,'NCBI Gene PubMed Count',NULL,5517,NULL,NULL,NULL,19,NULL,NULL,NULL),(26058,'NCBI Gene Summary',NULL,5518,NULL,'This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein\'s function are associated with Alzheimer\'s disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(26059,'NCBI Gene PubMed Count',NULL,5518,NULL,NULL,NULL,169,NULL,NULL,NULL),(26060,'NCBI Gene Summary',NULL,5519,NULL,'This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light chain region, and lacks a transmembrane domain. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(26061,'NCBI Gene PubMed Count',NULL,5519,NULL,NULL,NULL,9,NULL,NULL,NULL),(26062,'NCBI Gene Summary',NULL,5520,NULL,'Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Light chain-only GGTs, such as GGTLC3, contain a region corresponding to the GGT1 light chain, but they lack the membrane-anchoring heavy chain region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(26063,'NCBI Gene PubMed Count',NULL,5520,NULL,NULL,NULL,4,NULL,NULL,NULL),(26064,'NCBI Gene Summary',NULL,5521,NULL,'This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that binds activated insulin-like growth factor 1 and insulin receptors and regulates receptor signaling. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(26065,'NCBI Gene PubMed Count',NULL,5521,NULL,NULL,NULL,10,NULL,NULL,NULL),(26066,'NCBI Gene Summary',NULL,5522,NULL,'This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(26067,'NCBI Gene PubMed Count',NULL,5522,NULL,NULL,NULL,91,NULL,NULL,NULL),(26068,'NCBI Gene Summary',NULL,5523,NULL,'The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(26069,'NCBI Gene PubMed Count',NULL,5523,NULL,NULL,NULL,6,NULL,NULL,NULL),(26070,'NCBI Gene PubMed Count',NULL,5524,NULL,NULL,NULL,23,NULL,NULL,NULL),(26071,'NCBI Gene Summary',NULL,5525,NULL,'The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(26072,'NCBI Gene PubMed Count',NULL,5525,NULL,NULL,NULL,8,NULL,NULL,NULL),(26073,'NCBI Gene Summary',NULL,5526,NULL,'This locus is the ortholog of a mouse protein-coding gene that displays characteristics of a linker histone and is expressed in nuclei of late maturing spermatids. The human locus is expressed; however, the open reading frame has been disrupted by a frameshift so it is unlikely to encode a functional protein. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(26074,'NCBI Gene PubMed Count',NULL,5526,NULL,NULL,NULL,9,NULL,NULL,NULL),(26075,'NCBI Gene Summary',NULL,5527,NULL,'This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(26076,'NCBI Gene PubMed Count',NULL,5527,NULL,NULL,NULL,40,NULL,NULL,NULL),(26077,'NCBI Gene PubMed Count',NULL,5528,NULL,NULL,NULL,29,NULL,NULL,NULL),(26078,'NCBI Gene Summary',NULL,5529,NULL,'The protein encoded by this gene is a subunit of the cytochrome c oxidase complex (complex IV), which is the terminal enzyme in the mitochondrial respiratory chain. The encoded protein is an inner mitochondrial membrane protein and is a functional ortholog of the yeast respiratory supercomplex factor 1 (Rcf1). In mouse, the orthologous protein enhances cell survival under conditions of hypoxia. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(26079,'NCBI Gene PubMed Count',NULL,5529,NULL,NULL,NULL,5,NULL,NULL,NULL),(26080,'NCBI Gene Summary',NULL,5530,NULL,'HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26081,'NCBI Gene PubMed Count',NULL,5530,NULL,NULL,NULL,232,NULL,NULL,NULL),(26082,'NCBI Gene Summary',NULL,5531,NULL,'This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and may be aberrantly expressed in tumor cells. A mutation in this gene was associated with microphthalmia, syndromic 13. There are numerous pseudogenes of this gene on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(26083,'NCBI Gene PubMed Count',NULL,5531,NULL,NULL,NULL,34,NULL,NULL,NULL),(26084,'NCBI Gene Summary',NULL,5532,NULL,'This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26085,'NCBI Gene PubMed Count',NULL,5532,NULL,NULL,NULL,341,NULL,NULL,NULL),(26086,'NCBI Gene Summary',NULL,5533,NULL,'The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMG17, the encoded protein may help maintain an open chromatin configuration around transcribable genes. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(26087,'NCBI Gene PubMed Count',NULL,5533,NULL,NULL,NULL,35,NULL,NULL,NULL),(26088,'NCBI Gene Summary',NULL,5534,NULL,'The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(26089,'NCBI Gene PubMed Count',NULL,5534,NULL,NULL,NULL,82,NULL,NULL,NULL),(26090,'NCBI Gene PubMed Count',NULL,5535,NULL,NULL,NULL,10,NULL,NULL,NULL),(26091,'NCBI Gene PubMed Count',NULL,5536,NULL,NULL,NULL,15,NULL,NULL,NULL),(26092,'NCBI Gene Summary',NULL,5537,NULL,'This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(26093,'NCBI Gene PubMed Count',NULL,5537,NULL,NULL,NULL,27,NULL,NULL,NULL),(26094,'NCBI Gene PubMed Count',NULL,5538,NULL,NULL,NULL,1,NULL,NULL,NULL),(26095,'NCBI Gene Summary',NULL,5539,NULL,'This gene encodes a DnaJ-type co-chaperone and member of the heat shock cognate B (HscB) family of proteins. The encoded protein plays a role in the synthesis of iron-sulfur clusters, protein cofactors that are involved in the redox reactions of mitochondrial electron transport and other processes. Cells in which this gene is knocked down exhibit reduced activity of iron-sulfur cluster-dependent enzymes including succinate dehydrogenase and aconitase. The encoded protein may stimulate the ATPase activity of the mitochondrial stress-70 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(26096,'NCBI Gene PubMed Count',NULL,5539,NULL,NULL,NULL,20,NULL,NULL,NULL),(26097,'NCBI Gene PubMed Count',NULL,5540,NULL,NULL,NULL,9,NULL,NULL,NULL),(26098,'NCBI Gene PubMed Count',NULL,5541,NULL,NULL,NULL,14,NULL,NULL,NULL),(26099,'NCBI Gene Summary',NULL,5542,NULL,'Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in the negative regulation of DNA binding activity. Two alternatively spliced transcripts encoding distinct isoforms and possessing different transcriptional activity have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26100,'NCBI Gene PubMed Count',NULL,5542,NULL,NULL,NULL,43,NULL,NULL,NULL),(26101,'NCBI Gene PubMed Count',NULL,5543,NULL,NULL,NULL,4,NULL,NULL,NULL),(26102,'NCBI Gene Summary',NULL,5544,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26103,'NCBI Gene PubMed Count',NULL,5544,NULL,NULL,NULL,36,NULL,NULL,NULL),(26104,'NCBI Gene Summary',NULL,5545,NULL,'This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster at chromosome the 17q21-22 region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26105,'NCBI Gene PubMed Count',NULL,5545,NULL,NULL,NULL,102,NULL,NULL,NULL),(26106,'NCBI Gene Summary',NULL,5546,NULL,'This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26107,'NCBI Gene PubMed Count',NULL,5546,NULL,NULL,NULL,19,NULL,NULL,NULL),(26108,'NCBI Gene Summary',NULL,5547,NULL,'In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26109,'NCBI Gene PubMed Count',NULL,5547,NULL,NULL,NULL,20,NULL,NULL,NULL),(26110,'NCBI Gene PubMed Count',NULL,5548,NULL,NULL,NULL,4,NULL,NULL,NULL),(26111,'NCBI Gene Summary',NULL,5549,NULL,'In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26112,'NCBI Gene PubMed Count',NULL,5549,NULL,NULL,NULL,18,NULL,NULL,NULL),(26113,'NCBI Gene Summary',NULL,5550,NULL,'This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(26114,'NCBI Gene PubMed Count',NULL,5550,NULL,NULL,NULL,130,NULL,NULL,NULL),(26115,'NCBI Gene Summary',NULL,5551,NULL,'This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(26116,'NCBI Gene PubMed Count',NULL,5551,NULL,NULL,NULL,17,NULL,NULL,NULL),(26117,'NCBI Gene Summary',NULL,5552,NULL,'The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for interleukin 18 (IL18), a proinflammatory cytokine involved in inducing cell-mediated immunity. This protein enhances the IL18-binding activity of the IL18 receptor and plays a role in signaling by IL18. Mutations in this gene are associated with Crohn\'s disease and inflammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(26118,'NCBI Gene PubMed Count',NULL,5552,NULL,NULL,NULL,47,NULL,NULL,NULL),(26119,'NCBI Gene PubMed Count',NULL,5553,NULL,NULL,NULL,6,NULL,NULL,NULL),(26120,'NCBI Gene Summary',NULL,5554,NULL,'In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. Read-through transcription exists between this gene and the upstream homeobox A10 (HOXA10) gene.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(26121,'NCBI Gene PubMed Count',NULL,5554,NULL,NULL,NULL,150,NULL,NULL,NULL),(26122,'NCBI Gene Summary',NULL,5555,NULL,'This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26123,'NCBI Gene PubMed Count',NULL,5555,NULL,NULL,NULL,72,NULL,NULL,NULL),(26124,'NCBI Gene Summary',NULL,5556,NULL,'The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(26125,'NCBI Gene PubMed Count',NULL,5556,NULL,NULL,NULL,29,NULL,NULL,NULL),(26126,'NCBI Gene PubMed Count',NULL,5557,NULL,NULL,NULL,21,NULL,NULL,NULL),(26127,'NCBI Gene Summary',NULL,5559,NULL,'The protein encoded by this gene is a member of the insulin-like growth factor family of signaling molecules. The encoded protein is synthesized as a precursor protein and is proteolytically cleaved to form a secreted mature peptide. The mature peptide binds to a receptor, which in mouse was found on the cell surface of T cells. Increased expression of this gene may be linked to psoriasis. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(26128,'NCBI Gene PubMed Count',NULL,5559,NULL,NULL,NULL,6,NULL,NULL,NULL),(26129,'NCBI Gene Summary',NULL,5560,NULL,'IGFL2 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26130,'NCBI Gene PubMed Count',NULL,5560,NULL,NULL,NULL,6,NULL,NULL,NULL),(26131,'NCBI Gene Summary',NULL,5561,NULL,'The protein encoded by this gene belongs to the type I cytokine receptor family. This receptor, with homology to gp130, is expressed on monocytes, and is involved in IL-31 signaling via activation of STAT-3 and STAT-5. It functions either as a monomer, or as part of a receptor complex with oncostatin M receptor (OSMR). Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(26132,'NCBI Gene PubMed Count',NULL,5561,NULL,NULL,NULL,25,NULL,NULL,NULL),(26133,'NCBI Gene Summary',NULL,5562,NULL,'IL31, which is made principally by activated Th2-type T cells, interacts with a heterodimeric receptor consisting of IL31RA (MIM 609510) and OSMR (MIM 601743) that is constitutively expressed on epithelial cells and keratinocytes. IL31 may be involved in the promotion of allergic skin disorders and in regulating other allergic diseases, such as asthma (Dillon et al., 2004 [PubMed 15184896]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26134,'NCBI Gene PubMed Count',NULL,5562,NULL,NULL,NULL,78,NULL,NULL,NULL),(26135,'NCBI Gene PubMed Count',NULL,5563,NULL,NULL,NULL,4,NULL,NULL,NULL),(26136,'NCBI Gene PubMed Count',NULL,5564,NULL,NULL,NULL,7,NULL,NULL,NULL),(26137,'NCBI Gene Summary',NULL,5565,NULL,'This gene encodes a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. The encoded cytokine plays a major role in the regulation of eosinophil formation, maturation, recruitment and survival. The increased production of this cytokine may be related to pathogenesis of eosinophil-dependent inflammatory diseases. This cytokine functions by binding to its receptor, which is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on chromosome 5 within a cytokine gene cluster which includes interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene, IL4, and IL13 may be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(26138,'NCBI Gene PubMed Count',NULL,5565,NULL,NULL,NULL,213,NULL,NULL,NULL),(26139,'NCBI Gene Summary',NULL,5566,NULL,'The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(26140,'NCBI Gene PubMed Count',NULL,5566,NULL,NULL,NULL,78,NULL,NULL,NULL),(26141,'NCBI Gene Summary',NULL,5567,NULL,'The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26142,'NCBI Gene PubMed Count',NULL,5567,NULL,NULL,NULL,2568,NULL,NULL,NULL),(26143,'NCBI Gene Summary',NULL,5568,NULL,'The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26144,'NCBI Gene PubMed Count',NULL,5568,NULL,NULL,NULL,18,NULL,NULL,NULL),(26145,'NCBI Gene Summary',NULL,5569,NULL,'This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(26146,'NCBI Gene PubMed Count',NULL,5569,NULL,NULL,NULL,276,NULL,NULL,NULL),(26147,'NCBI Gene Summary',NULL,5570,NULL,'This gene was identified by its overexpression specifically in herpesvirus samimiri-transformed T cells. The encoded protein is a member of the IL10 family of cytokines. It is a secreted protein and may function as a homodimer. This protein is thought to contribute to the transformed phenotype of T cells after infection by herpesvirus samimiri. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26148,'NCBI Gene PubMed Count',NULL,5570,NULL,NULL,NULL,34,NULL,NULL,NULL),(26149,'NCBI Gene Summary',NULL,5571,NULL,'This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26150,'NCBI Gene PubMed Count',NULL,5571,NULL,NULL,NULL,27,NULL,NULL,NULL),(26151,'NCBI Gene PubMed Count',NULL,5572,NULL,NULL,NULL,25,NULL,NULL,NULL),(26152,'NCBI Gene Summary',NULL,5573,NULL,'The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26153,'NCBI Gene PubMed Count',NULL,5573,NULL,NULL,NULL,20,NULL,NULL,NULL),(26154,'NCBI Gene Summary',NULL,5574,NULL,'This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(26155,'NCBI Gene PubMed Count',NULL,5574,NULL,NULL,NULL,19,NULL,NULL,NULL),(26156,'NCBI Gene Summary',NULL,5575,NULL,'The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26157,'NCBI Gene PubMed Count',NULL,5575,NULL,NULL,NULL,8,NULL,NULL,NULL),(26158,'NCBI Gene PubMed Count',NULL,5576,NULL,NULL,NULL,8,NULL,NULL,NULL),(26159,'NCBI Gene Summary',NULL,5577,NULL,'This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26160,'NCBI Gene PubMed Count',NULL,5577,NULL,NULL,NULL,207,NULL,NULL,NULL),(26161,'NCBI Gene PubMed Count',NULL,5578,NULL,NULL,NULL,6,NULL,NULL,NULL),(26162,'NCBI Gene Summary',NULL,5579,NULL,'The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(26163,'NCBI Gene PubMed Count',NULL,5579,NULL,NULL,NULL,196,NULL,NULL,NULL),(26164,'NCBI Gene PubMed Count',NULL,5580,NULL,NULL,NULL,48,NULL,NULL,NULL),(26165,'NCBI Gene PubMed Count',NULL,5581,NULL,NULL,NULL,49,NULL,NULL,NULL),(26166,'NCBI Gene PubMed Count',NULL,5582,NULL,NULL,NULL,65,NULL,NULL,NULL),(26167,'NCBI Gene PubMed Count',NULL,5583,NULL,NULL,NULL,6,NULL,NULL,NULL),(26168,'NCBI Gene Summary',NULL,5584,NULL,'This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5\' region overlaps the INS gene and the 3\' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(26169,'NCBI Gene PubMed Count',NULL,5584,NULL,NULL,NULL,617,NULL,NULL,NULL),(26170,'NCBI Gene PubMed Count',NULL,5585,NULL,NULL,NULL,3,NULL,NULL,NULL),(26171,'NCBI Gene PubMed Count',NULL,5586,NULL,NULL,NULL,5,NULL,NULL,NULL),(26172,'NCBI Gene Summary',NULL,5588,NULL,'The protein encoded by this gene belongs to the NF-kappa-B inhibitor family, which inhibit NF-kappa-B by complexing with, and trapping it in the cytoplasm. Phosphorylation of serine residues on these proteins by kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B, which translocates to the nucleus to function as a transcription factor. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(26173,'NCBI Gene PubMed Count',NULL,5588,NULL,NULL,NULL,63,NULL,NULL,NULL),(26174,'NCBI Gene Summary',NULL,5589,NULL,'IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(26175,'NCBI Gene PubMed Count',NULL,5589,NULL,NULL,NULL,132,NULL,NULL,NULL),(26176,'NCBI Gene Summary',NULL,5590,NULL,'The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(26177,'NCBI Gene PubMed Count',NULL,5590,NULL,NULL,NULL,46,NULL,NULL,NULL),(26178,'NCBI Gene PubMed Count',NULL,5591,NULL,NULL,NULL,6,NULL,NULL,NULL),(26179,'NCBI Gene Summary',NULL,5592,NULL,'This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26180,'NCBI Gene PubMed Count',NULL,5592,NULL,NULL,NULL,288,NULL,NULL,NULL),(26181,'NCBI Gene Summary',NULL,5593,NULL,'The protein encoded by this gene is a cytokine that regulates T and natural killer cell activation and proliferation. This cytokine and interleukine 2 share many biological activities. They are found to bind common hematopoietin receptor subunits, and may compete for the same receptor, and thus negatively regulate each other\'s activity. The number of CD8+ memory cells is shown to be controlled by a balance between this cytokine and IL2. This cytokine induces the activation of JAK kinases, as well as the phosphorylation and activation of transcription activators STAT3, STAT5, and STAT6. Studies of the mouse counterpart suggested that this cytokine may increase the expression of apoptosis inhibitor BCL2L1/BCL-x(L), possibly through the transcription activation activity of STAT6, and thus prevent apoptosis. Alternatively spliced transcript variants of this gene have been reported. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(26182,'NCBI Gene PubMed Count',NULL,5593,NULL,NULL,NULL,403,NULL,NULL,NULL),(26183,'NCBI Gene Summary',NULL,5594,NULL,'The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(26184,'NCBI Gene PubMed Count',NULL,5594,NULL,NULL,NULL,255,NULL,NULL,NULL),(26185,'NCBI Gene Summary',NULL,5595,NULL,'This gene encodes a microtubule-binding nuclear protein that localizes to the centrioles of dividing cells and differentiating multiciliated cells and negatively regulates centriole duplication. The encoded protein is closely associated with the centriole barrel, and resides in the centriole lumen. Naturally-occurring mutations in the orthologous mouse gene are associated with age-related retinal degeneration. [provided by RefSeq, Feb 2019]',NULL,NULL,NULL,NULL,NULL),(26186,'NCBI Gene PubMed Count',NULL,5595,NULL,NULL,NULL,12,NULL,NULL,NULL),(26187,'NCBI Gene Summary',NULL,5596,NULL,'This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(26188,'NCBI Gene PubMed Count',NULL,5596,NULL,NULL,NULL,1413,NULL,NULL,NULL),(26189,'NCBI Gene Summary',NULL,5597,NULL,'This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter\'s degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(26190,'NCBI Gene PubMed Count',NULL,5597,NULL,NULL,NULL,219,NULL,NULL,NULL),(26191,'NCBI Gene PubMed Count',NULL,5598,NULL,NULL,NULL,13,NULL,NULL,NULL),(26192,'NCBI Gene Summary',NULL,5599,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(26193,'NCBI Gene PubMed Count',NULL,5599,NULL,NULL,NULL,2178,NULL,NULL,NULL),(26194,'NCBI Gene Summary',NULL,5600,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intra-cellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the MDR/TAP subfamily.  Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation.  This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate.  The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile.  Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26195,'NCBI Gene PubMed Count',NULL,5600,NULL,NULL,NULL,128,NULL,NULL,NULL),(26196,'NCBI Gene PubMed Count',NULL,5601,NULL,NULL,NULL,5,NULL,NULL,NULL),(26197,'NCBI Gene Summary',NULL,5602,NULL,'The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(26198,'NCBI Gene PubMed Count',NULL,5602,NULL,NULL,NULL,20,NULL,NULL,NULL),(26199,'NCBI Gene Summary',NULL,5603,NULL,'Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(26200,'NCBI Gene PubMed Count',NULL,5603,NULL,NULL,NULL,24,NULL,NULL,NULL),(26201,'NCBI Gene Summary',NULL,5604,NULL,'This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(26202,'NCBI Gene PubMed Count',NULL,5604,NULL,NULL,NULL,31,NULL,NULL,NULL),(26203,'NCBI Gene Summary',NULL,5605,NULL,'This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(26204,'NCBI Gene PubMed Count',NULL,5605,NULL,NULL,NULL,10,NULL,NULL,NULL),(26205,'NCBI Gene Summary',NULL,5606,NULL,'This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26206,'NCBI Gene PubMed Count',NULL,5606,NULL,NULL,NULL,16,NULL,NULL,NULL),(26207,'NCBI Gene Summary',NULL,5607,NULL,'The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5\' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26208,'NCBI Gene PubMed Count',NULL,5607,NULL,NULL,NULL,178,NULL,NULL,NULL),(26209,'NCBI Gene Summary',NULL,5608,NULL,'Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(26210,'NCBI Gene PubMed Count',NULL,5608,NULL,NULL,NULL,36,NULL,NULL,NULL),(26211,'NCBI Gene PubMed Count',NULL,5609,NULL,NULL,NULL,4,NULL,NULL,NULL),(26212,'NCBI Gene PubMed Count',NULL,5610,NULL,NULL,NULL,7,NULL,NULL,NULL),(26213,'NCBI Gene Summary',NULL,5611,NULL,'The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(26214,'NCBI Gene PubMed Count',NULL,5611,NULL,NULL,NULL,146,NULL,NULL,NULL),(26215,'NCBI Gene Summary',NULL,5612,NULL,'This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(26216,'NCBI Gene PubMed Count',NULL,5612,NULL,NULL,NULL,375,NULL,NULL,NULL),(26217,'NCBI Gene Summary',NULL,5613,NULL,'The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26218,'NCBI Gene PubMed Count',NULL,5613,NULL,NULL,NULL,217,NULL,NULL,NULL),(26219,'NCBI Gene Summary',NULL,5614,NULL,'This gene encodes a member of the common-gamma chain family of cytokines with immunoregulatory activity. The encoded protein plays a role in both the innate and adaptive immune responses by inducing the differentiation, proliferation and activity of multiple target cells including macrophages, natural killer cells, B cells and cytotoxic T cells. Dysregulation of this gene plays a role in multiple immune-mediated diseases including lupus, psoriasis and chronic inflammatory diseases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(26220,'NCBI Gene PubMed Count',NULL,5614,NULL,NULL,NULL,332,NULL,NULL,NULL),(26221,'NCBI Gene Summary',NULL,5615,NULL,'This gene is a member of the IL10 family of cytokines that mediate cellular inflammatory responses. The encoded protein functions in antimicrobial defense at mucosal surfaces and in tissue repair. This protein also has pro-inflammatory properties and plays a role in in the pathogenesis of several intestinal diseases. [provided by RefSeq, Jul 2018]',NULL,NULL,NULL,NULL,NULL),(26222,'NCBI Gene PubMed Count',NULL,5615,NULL,NULL,NULL,296,NULL,NULL,NULL),(26223,'NCBI Gene Summary',NULL,5616,NULL,'The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26224,'NCBI Gene PubMed Count',NULL,5616,NULL,NULL,NULL,1113,NULL,NULL,NULL),(26225,'NCBI Gene Summary',NULL,5617,NULL,'This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T cell and inflammatory responses, in part by activating the Jak/STAT pathway of CD4+ T cells. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(26226,'NCBI Gene PubMed Count',NULL,5617,NULL,NULL,NULL,61,NULL,NULL,NULL),(26227,'NCBI Gene Summary',NULL,5618,NULL,'X chromosome inactivation provides dosage compensation for the expression level of X-linked genes from the single X in males and the two in females. This X chromosome gene is intronless and was identified because its transcription escapes X inactivation in females. This gene does not make a protein.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(26228,'NCBI Gene PubMed Count',NULL,5618,NULL,NULL,NULL,4,NULL,NULL,NULL),(26229,'NCBI Gene Summary',NULL,5619,NULL,'This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26230,'NCBI Gene PubMed Count',NULL,5619,NULL,NULL,NULL,92,NULL,NULL,NULL),(26231,'NCBI Gene Summary',NULL,5620,NULL,'This gene encodes a tumor suppressor protein that inhibits cell growth and induces apoptosis. This protein contains a PHD-type zinc finger. It interacts with tumor suppressor p53 and p300, a component of the histone acetyl transferase complex, suggesting a role in transcriptional regulation. Alternative splicing and the use of multiple promoters and 3\' terminal exons results in multiple transcript variants. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(26232,'NCBI Gene PubMed Count',NULL,5620,NULL,NULL,NULL,38,NULL,NULL,NULL),(26233,'NCBI Gene Summary',NULL,5621,NULL,'This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26234,'NCBI Gene PubMed Count',NULL,5621,NULL,NULL,NULL,172,NULL,NULL,NULL),(26235,'NCBI Gene Summary',NULL,5622,NULL,'This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26236,'NCBI Gene PubMed Count',NULL,5622,NULL,NULL,NULL,94,NULL,NULL,NULL),(26237,'NCBI Gene PubMed Count',NULL,5623,NULL,NULL,NULL,15,NULL,NULL,NULL),(26238,'NCBI Gene Summary',NULL,5624,NULL,'This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(26239,'NCBI Gene PubMed Count',NULL,5624,NULL,NULL,NULL,18,NULL,NULL,NULL),(26240,'NCBI Gene PubMed Count',NULL,5625,NULL,NULL,NULL,4,NULL,NULL,NULL),(26241,'NCBI Gene PubMed Count',NULL,5626,NULL,NULL,NULL,4,NULL,NULL,NULL),(26242,'NCBI Gene Summary',NULL,5627,NULL,'This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(26243,'NCBI Gene PubMed Count',NULL,5627,NULL,NULL,NULL,33,NULL,NULL,NULL),(26244,'NCBI Gene Summary',NULL,5628,NULL,'This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(26245,'NCBI Gene PubMed Count',NULL,5628,NULL,NULL,NULL,15,NULL,NULL,NULL),(26246,'NCBI Gene Summary',NULL,5629,NULL,'This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(26247,'NCBI Gene PubMed Count',NULL,5629,NULL,NULL,NULL,75,NULL,NULL,NULL),(26248,'NCBI Gene PubMed Count',NULL,5630,NULL,NULL,NULL,8,NULL,NULL,NULL),(26249,'NCBI Gene Summary',NULL,5631,NULL,'This gene encodes a member of the HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(26250,'NCBI Gene PubMed Count',NULL,5631,NULL,NULL,NULL,12,NULL,NULL,NULL),(26251,'NCBI Gene PubMed Count',NULL,5632,NULL,NULL,NULL,3,NULL,NULL,NULL),(26252,'NCBI Gene Summary',NULL,5633,NULL,'In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the downstream homeobox A9 (HOXA9) gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(26253,'NCBI Gene PubMed Count',NULL,5633,NULL,NULL,NULL,151,NULL,NULL,NULL),(26254,'NCBI Gene PubMed Count',NULL,5634,NULL,NULL,NULL,6,NULL,NULL,NULL),(26255,'NCBI Gene Summary',NULL,5635,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26256,'NCBI Gene PubMed Count',NULL,5635,NULL,NULL,NULL,35,NULL,NULL,NULL),(26257,'NCBI Gene Summary',NULL,5636,NULL,'This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm\'s tumor and congenital vertical talus (also known as \"rocker-bottom foot\" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26258,'NCBI Gene PubMed Count',NULL,5636,NULL,NULL,NULL,55,NULL,NULL,NULL),(26259,'NCBI Gene Summary',NULL,5637,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5\' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26260,'NCBI Gene PubMed Count',NULL,5637,NULL,NULL,NULL,25,NULL,NULL,NULL),(26261,'NCBI Gene PubMed Count',NULL,5638,NULL,NULL,NULL,2,NULL,NULL,NULL),(26262,'NCBI Gene Summary',NULL,5639,NULL,'This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(26263,'NCBI Gene PubMed Count',NULL,5639,NULL,NULL,NULL,8,NULL,NULL,NULL),(26264,'NCBI Gene PubMed Count',NULL,5640,NULL,NULL,NULL,2,NULL,NULL,NULL),(26265,'NCBI Gene PubMed Count',NULL,5641,NULL,NULL,NULL,2,NULL,NULL,NULL),(26266,'NCBI Gene PubMed Count',NULL,5642,NULL,NULL,NULL,2,NULL,NULL,NULL),(26267,'NCBI Gene Summary',NULL,5643,NULL,'Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(26268,'NCBI Gene PubMed Count',NULL,5643,NULL,NULL,NULL,21,NULL,NULL,NULL),(26269,'NCBI Gene Summary',NULL,5644,NULL,'Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(26270,'NCBI Gene PubMed Count',NULL,5644,NULL,NULL,NULL,147,NULL,NULL,NULL),(26271,'NCBI Gene PubMed Count',NULL,5645,NULL,NULL,NULL,6,NULL,NULL,NULL),(26272,'NCBI Gene Summary',NULL,5646,NULL,'Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(26273,'NCBI Gene PubMed Count',NULL,5646,NULL,NULL,NULL,80,NULL,NULL,NULL),(26274,'NCBI Gene Summary',NULL,5647,NULL,'The protein encoded by this gene is a cytokine receptor. This receptor specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This receptor has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated during intestinal inflammation, which suggested the immunoregulatory activity of this receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26275,'NCBI Gene PubMed Count',NULL,5647,NULL,NULL,NULL,46,NULL,NULL,NULL),(26276,'NCBI Gene Summary',NULL,5648,NULL,'This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the progression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, and it has been proposed that soluble, secreted proteins lacking transmembrane and intracellular domains may function as extracellular antagonists to cytokine signaling. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(26277,'NCBI Gene PubMed Count',NULL,5648,NULL,NULL,NULL,25,NULL,NULL,NULL),(26278,'NCBI Gene Summary',NULL,5649,NULL,'This gene encodes a member of the class II cytokine receptor family. The encoded soluble protein specifically binds to and inhibits interleukin 22 activity by blocking the interaction of interleukin 22 with its cell surface receptor. The encoded protein may be important in the regulation of inflammatory response, and has been implicated in the regulation of tumorigenesis in the colon. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(26279,'NCBI Gene PubMed Count',NULL,5649,NULL,NULL,NULL,25,NULL,NULL,NULL),(26280,'NCBI Gene Summary',NULL,5650,NULL,' Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix.  It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds.  HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space.  It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate.  HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts.  Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis.  In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis.  HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26281,'NCBI Gene PubMed Count',NULL,5650,NULL,NULL,NULL,88,NULL,NULL,NULL),(26282,'NCBI Gene Summary',NULL,5651,NULL,'Along with the enzymes encoded by the INDO (MIM 147435) and TDO2 (MIM 191070) genes, the enzyme encoded by the INDOL1 gene metabolizes tryptophan in the kynurenine pathway (Ball et al., 2007 [PubMed 17499941]).[supplied by OMIM, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(26283,'NCBI Gene PubMed Count',NULL,5651,NULL,NULL,NULL,23,NULL,NULL,NULL),(26284,'NCBI Gene PubMed Count',NULL,5652,NULL,NULL,NULL,5,NULL,NULL,NULL),(26285,'NCBI Gene Summary',NULL,5653,NULL,'The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26286,'NCBI Gene PubMed Count',NULL,5653,NULL,NULL,NULL,27,NULL,NULL,NULL),(26287,'NCBI Gene Summary',NULL,5654,NULL,'This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(26288,'NCBI Gene PubMed Count',NULL,5654,NULL,NULL,NULL,17,NULL,NULL,NULL),(26289,'NCBI Gene Summary',NULL,5655,NULL,'The protein encoded by this gene is a cytokine that shares sequence similarity with interleukin 17. This cytokine can induce NF-kappaB activation, and stimulate the production of interleukin 8. Both this cytokine and interleukin 17B are ligands for the cytokine receptor IL17BR. Studies of a similar gene in mice suggest that this cytokine may be a pro-inflammatory cytokine favoring the Th2-type immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(26290,'NCBI Gene PubMed Count',NULL,5655,NULL,NULL,NULL,69,NULL,NULL,NULL),(26291,'NCBI Gene Summary',NULL,5656,NULL,'The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26292,'NCBI Gene PubMed Count',NULL,5656,NULL,NULL,NULL,227,NULL,NULL,NULL),(26293,'NCBI Gene Summary',NULL,5657,NULL,'This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(26294,'NCBI Gene PubMed Count',NULL,5657,NULL,NULL,NULL,39,NULL,NULL,NULL),(26295,'NCBI Gene Summary',NULL,5658,NULL,'This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(26296,'NCBI Gene PubMed Count',NULL,5658,NULL,NULL,NULL,46,NULL,NULL,NULL),(26297,'NCBI Gene Summary',NULL,5659,NULL,'The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26298,'NCBI Gene PubMed Count',NULL,5659,NULL,NULL,NULL,27,NULL,NULL,NULL),(26299,'NCBI Gene Summary',NULL,5660,NULL,'This gene encodes a tumor suppressor protein that contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in the TP53-dependent regulatory pathway. Multiple alternatively spliced transcript variants have been observed that encode distinct proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26300,'NCBI Gene PubMed Count',NULL,5660,NULL,NULL,NULL,84,NULL,NULL,NULL),(26301,'NCBI Gene PubMed Count',NULL,5661,NULL,NULL,NULL,12,NULL,NULL,NULL),(26302,'NCBI Gene Summary',NULL,5662,NULL,'This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(26303,'NCBI Gene PubMed Count',NULL,5662,NULL,NULL,NULL,38,NULL,NULL,NULL),(26304,'NCBI Gene Summary',NULL,5663,NULL,'EIF4E3 belongs to the EIF4E family of translational initiation factors that interact with the 5-prime cap structure of mRNA and recruit mRNA to the ribosome (Joshi et al., 2004 [PubMed 15153109]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26305,'NCBI Gene PubMed Count',NULL,5663,NULL,NULL,NULL,9,NULL,NULL,NULL),(26306,'NCBI Gene PubMed Count',NULL,5664,NULL,NULL,NULL,45,NULL,NULL,NULL),(26307,'NCBI Gene Summary',NULL,5665,NULL,'The protein encoded by this gene is an interferon-induced membrane protein that helps confer immunity to influenza A H1N1 virus, West Nile virus, and dengue virus. Two transcript variants, only one of them protein-coding, have been found for this gene. Another variant encoding an N-terminally truncated isoform has been reported, but the full-length nature of this variant has not been determined. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(26308,'NCBI Gene PubMed Count',NULL,5665,NULL,NULL,NULL,90,NULL,NULL,NULL),(26309,'NCBI Gene Summary',NULL,5666,NULL,'This gene encodes a protein that belongs to the type I interferon family of proteins, and is located in a cluster of alpha interferon genes on chromosome 9. Interferons are small regulatory molecules that function in cell signaling in response to viruses and other pathogens or tumor cells. This gene is intronless and the encoded protein is secreted. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(26310,'NCBI Gene PubMed Count',NULL,5666,NULL,NULL,NULL,20,NULL,NULL,NULL),(26311,'NCBI Gene PubMed Count',NULL,5667,NULL,NULL,NULL,10,NULL,NULL,NULL),(26312,'NCBI Gene PubMed Count',NULL,5668,NULL,NULL,NULL,49,NULL,NULL,NULL),(26313,'NCBI Gene Summary',NULL,5669,NULL,'The protein encoded by this gene is produced by macrophages and has antiviral activity. This gene is intronless and the encoded protein is secreted. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(26314,'NCBI Gene PubMed Count',NULL,5669,NULL,NULL,NULL,263,NULL,NULL,NULL),(26315,'NCBI Gene Summary',NULL,5670,NULL,'This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(26316,'NCBI Gene PubMed Count',NULL,5670,NULL,NULL,NULL,18,NULL,NULL,NULL),(26317,'NCBI Gene PubMed Count',NULL,5671,NULL,NULL,NULL,18,NULL,NULL,NULL),(26318,'NCBI Gene PubMed Count',NULL,5672,NULL,NULL,NULL,21,NULL,NULL,NULL),(26319,'NCBI Gene PubMed Count',NULL,5673,NULL,NULL,NULL,4,NULL,NULL,NULL),(26320,'NCBI Gene Summary',NULL,5674,NULL,'This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(26321,'NCBI Gene PubMed Count',NULL,5674,NULL,NULL,NULL,2,NULL,NULL,NULL),(26322,'NCBI Gene PubMed Count',NULL,5675,NULL,NULL,NULL,20,NULL,NULL,NULL),(26323,'NCBI Gene PubMed Count',NULL,5676,NULL,NULL,NULL,9,NULL,NULL,NULL),(26324,'NCBI Gene PubMed Count',NULL,5677,NULL,NULL,NULL,24,NULL,NULL,NULL),(26325,'NCBI Gene Summary',NULL,5678,NULL,'This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(26326,'NCBI Gene PubMed Count',NULL,5678,NULL,NULL,NULL,13,NULL,NULL,NULL),(26327,'NCBI Gene PubMed Count',NULL,5679,NULL,NULL,NULL,3,NULL,NULL,NULL),(26328,'NCBI Gene Summary',NULL,5680,NULL,'This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(26329,'NCBI Gene PubMed Count',NULL,5680,NULL,NULL,NULL,95,NULL,NULL,NULL),(26330,'NCBI Gene PubMed Count',NULL,5681,NULL,NULL,NULL,6,NULL,NULL,NULL),(26331,'NCBI Gene Summary',NULL,5682,NULL,'This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(26332,'NCBI Gene PubMed Count',NULL,5682,NULL,NULL,NULL,64,NULL,NULL,NULL),(26333,'NCBI Gene Summary',NULL,5683,NULL,'The protein encoded by this gene is a proinflammatory cytokine that augments natural killer cell activity in spleen cells, and stimulates interferon gamma production in T-helper type I cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(26334,'NCBI Gene PubMed Count',NULL,5683,NULL,NULL,NULL,937,NULL,NULL,NULL),(26335,'NCBI Gene Summary',NULL,5684,NULL,'The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly of multisubunit receptor complexes, all of which contain at least one molecule of the transmembrane signaling receptor IL6ST (gp130). This cytokine is shown to stimulate the T-cell-dependent development of immunoglobulin-producing B cells. It is also found to support the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(26336,'NCBI Gene PubMed Count',NULL,5684,NULL,NULL,NULL,154,NULL,NULL,NULL),(26337,'NCBI Gene Summary',NULL,5685,NULL,'The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. The use of alternative promoters results in multiple transcript variants encoding the same protein. The protein is primarily expressed in the hematopoietic system. The use by some variants of an alternate promoter in an upstream long terminal repeat (LTR) results in placenta-specific expression. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(26338,'NCBI Gene PubMed Count',NULL,5685,NULL,NULL,NULL,134,NULL,NULL,NULL),(26339,'NCBI Gene Summary',NULL,5686,NULL,'The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(26340,'NCBI Gene PubMed Count',NULL,5686,NULL,NULL,NULL,54,NULL,NULL,NULL),(26341,'NCBI Gene Summary',NULL,5687,NULL,'The protein encoded by this gene is a proinflammatory cytokine produced by activated T cells. This cytokine regulates the activities of NF-kappaB and mitogen-activated protein kinases. This cytokine can stimulate the expression of IL6 and cyclooxygenase-2 (PTGS2/COX-2), as well as enhance the production of nitric oxide (NO). High levels of this cytokine are associated with several chronic inflammatory diseases including rheumatoid arthritis, psoriasis and multiple sclerosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26342,'NCBI Gene PubMed Count',NULL,5687,NULL,NULL,NULL,1137,NULL,NULL,NULL),(26343,'NCBI Gene Summary',NULL,5688,NULL,'The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26344,'NCBI Gene PubMed Count',NULL,5688,NULL,NULL,NULL,92,NULL,NULL,NULL),(26345,'NCBI Gene PubMed Count',NULL,5689,NULL,NULL,NULL,4,NULL,NULL,NULL),(26346,'NCBI Gene Summary',NULL,5690,NULL,'This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal differentiation in melanoma cells. The protein encoded by this gene can induce apoptosis selectively in various cancer cells. Overexpression of this gene leads to elevated expression of several GADD family genes, which correlates with the induction of apoptosis. The phosphorylation of mitogen-activated protein kinase 14 (MAPK7/P38), and heat shock 27kDa protein 1 (HSPB2/HSP27) are found to be induced by this gene in melanoma cells, but not in normal immortal melanocytes. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26347,'NCBI Gene PubMed Count',NULL,5690,NULL,NULL,NULL,140,NULL,NULL,NULL),(26348,'NCBI Gene PubMed Count',NULL,5691,NULL,NULL,NULL,2,NULL,NULL,NULL),(26349,'NCBI Gene Summary',NULL,5692,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5\' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26350,'NCBI Gene PubMed Count',NULL,5692,NULL,NULL,NULL,41,NULL,NULL,NULL),(26351,'NCBI Gene Summary',NULL,5693,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5\' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn\'t encode a protein. The protein-coding transcript variant contains gene-specific exons only. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26352,'NCBI Gene PubMed Count',NULL,5693,NULL,NULL,NULL,20,NULL,NULL,NULL),(26353,'NCBI Gene Summary',NULL,5694,NULL,'In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26354,'NCBI Gene PubMed Count',NULL,5694,NULL,NULL,NULL,44,NULL,NULL,NULL),(26355,'NCBI Gene PubMed Count',NULL,5695,NULL,NULL,NULL,18,NULL,NULL,NULL),(26356,'NCBI Gene Summary',NULL,5696,NULL,'Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(26357,'NCBI Gene PubMed Count',NULL,5696,NULL,NULL,NULL,53,NULL,NULL,NULL),(26358,'NCBI Gene Summary',NULL,5697,NULL,'The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5\' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(26359,'NCBI Gene PubMed Count',NULL,5697,NULL,NULL,NULL,49,NULL,NULL,NULL),(26360,'NCBI Gene PubMed Count',NULL,5698,NULL,NULL,NULL,3,NULL,NULL,NULL),(26361,'NCBI Gene Summary',NULL,5699,NULL,'This gene encodes a cytokine that belongs to the interferon family of signaling proteins, which are released as part of the innate immune response to pathogens. The protein encoded by this gene belongs to the type I class of interferons, which are important for defense against viral infections. In addition, type I interferons are involved in cell differentiation and anti-tumor defenses. Following secretion in response to a pathogen, type I interferons bind a homologous receptor complex and induce transcription of genes such as those encoding inflammatory cytokines and chemokines. Overactivation of type I interferon secretion is linked to autoimmune diseases. Mice deficient for this gene display several phenotypes including defects in B cell maturation and increased susceptibility to viral infection. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(26362,'NCBI Gene PubMed Count',NULL,5699,NULL,NULL,NULL,362,NULL,NULL,NULL),(26363,'NCBI Gene Summary',NULL,5700,NULL,'This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5\' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(26364,'NCBI Gene PubMed Count',NULL,5700,NULL,NULL,NULL,19,NULL,NULL,NULL),(26365,'NCBI Gene PubMed Count',NULL,5701,NULL,NULL,NULL,19,NULL,NULL,NULL),(26366,'NCBI Gene PubMed Count',NULL,5702,NULL,NULL,NULL,21,NULL,NULL,NULL),(26367,'NCBI Gene PubMed Count',NULL,5703,NULL,NULL,NULL,2,NULL,NULL,NULL),(26368,'NCBI Gene PubMed Count',NULL,5704,NULL,NULL,NULL,18,NULL,NULL,NULL),(26369,'NCBI Gene PubMed Count',NULL,5705,NULL,NULL,NULL,23,NULL,NULL,NULL),(26370,'NCBI Gene Summary',NULL,5706,NULL,'This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(26371,'NCBI Gene PubMed Count',NULL,5706,NULL,NULL,NULL,1729,NULL,NULL,NULL),(26372,'NCBI Gene Summary',NULL,5707,NULL,'IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005]',NULL,NULL,NULL,NULL,NULL),(26373,'NCBI Gene PubMed Count',NULL,5707,NULL,NULL,NULL,13,NULL,NULL,NULL),(26374,'NCBI Gene Summary',NULL,5708,NULL,'The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(26375,'NCBI Gene PubMed Count',NULL,5708,NULL,NULL,NULL,1698,NULL,NULL,NULL),(26376,'NCBI Gene PubMed Count',NULL,5710,NULL,NULL,NULL,27,NULL,NULL,NULL),(26377,'NCBI Gene PubMed Count',NULL,5711,NULL,NULL,NULL,5,NULL,NULL,NULL),(26378,'NCBI Gene Summary',NULL,5712,NULL,'This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(26379,'NCBI Gene PubMed Count',NULL,5712,NULL,NULL,NULL,396,NULL,NULL,NULL),(26380,'NCBI Gene Summary',NULL,5713,NULL,'The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(26381,'NCBI Gene PubMed Count',NULL,5713,NULL,NULL,NULL,360,NULL,NULL,NULL),(26382,'NCBI Gene PubMed Count',NULL,5714,NULL,NULL,NULL,48,NULL,NULL,NULL),(26383,'NCBI Gene PubMed Count',NULL,5715,NULL,NULL,NULL,4,NULL,NULL,NULL),(26384,'NCBI Gene Summary',NULL,5716,NULL,'This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26385,'NCBI Gene PubMed Count',NULL,5716,NULL,NULL,NULL,44,NULL,NULL,NULL),(26386,'NCBI Gene Summary',NULL,5717,NULL,'Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(26387,'NCBI Gene PubMed Count',NULL,5717,NULL,NULL,NULL,16,NULL,NULL,NULL),(26388,'NCBI Gene Summary',NULL,5718,NULL,'Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(26389,'NCBI Gene PubMed Count',NULL,5718,NULL,NULL,NULL,8,NULL,NULL,NULL),(26390,'NCBI Gene Summary',NULL,5719,NULL,'The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(26391,'NCBI Gene PubMed Count',NULL,5719,NULL,NULL,NULL,476,NULL,NULL,NULL),(26392,'NCBI Gene Summary',NULL,5720,NULL,'The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer\'s disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26393,'NCBI Gene PubMed Count',NULL,5720,NULL,NULL,NULL,871,NULL,NULL,NULL),(26394,'NCBI Gene Summary',NULL,5721,NULL,'The protein encoded by this gene is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. The encoded 45 kDa protein (NF45, ILF2) forms a complex with the 90 kDa interleukin enhancer-binding factor 3 (NF90, ILF3), and this complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm, to repair DNA breaks by nonhomologous end joining, and to negatively regulate the microRNA processing pathway. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. Alternative splicing results in multiple transcript variants. Related pseudogenes have been found on chromosomes 3 and 14. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(26395,'NCBI Gene PubMed Count',NULL,5721,NULL,NULL,NULL,53,NULL,NULL,NULL),(26396,'NCBI Gene Summary',NULL,5722,NULL,'This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(26397,'NCBI Gene PubMed Count',NULL,5722,NULL,NULL,NULL,128,NULL,NULL,NULL),(26398,'NCBI Gene Summary',NULL,5723,NULL,'This gene encodes a member of the folate receptor (FOLR) family of proteins, which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. Expression of this gene may be elevated in ovarian and primary peritoneal carcinoma. This gene is present in a gene cluster on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(26399,'NCBI Gene PubMed Count',NULL,5723,NULL,NULL,NULL,14,NULL,NULL,NULL),(26400,'NCBI Gene Summary',NULL,5724,NULL,'The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2.  These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1.  As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation.  In some cases, expression of the FOS gene has also been associated with apoptotic cell death. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26401,'NCBI Gene PubMed Count',NULL,5724,NULL,NULL,NULL,343,NULL,NULL,NULL),(26402,'NCBI Gene PubMed Count',NULL,5725,NULL,NULL,NULL,5,NULL,NULL,NULL),(26403,'NCBI Gene Summary',NULL,5726,NULL,'This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain.  The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26404,'NCBI Gene PubMed Count',NULL,5726,NULL,NULL,NULL,9,NULL,NULL,NULL),(26405,'NCBI Gene PubMed Count',NULL,5727,NULL,NULL,NULL,8,NULL,NULL,NULL),(26406,'NCBI Gene Summary',NULL,5728,NULL,'This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(26407,'NCBI Gene PubMed Count',NULL,5728,NULL,NULL,NULL,7,NULL,NULL,NULL),(26408,'NCBI Gene Summary',NULL,5729,NULL,'Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26409,'NCBI Gene PubMed Count',NULL,5729,NULL,NULL,NULL,4,NULL,NULL,NULL),(26410,'NCBI Gene Summary',NULL,5730,NULL,'The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26411,'NCBI Gene PubMed Count',NULL,5730,NULL,NULL,NULL,95,NULL,NULL,NULL),(26412,'NCBI Gene Summary',NULL,5731,NULL,'This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(26413,'NCBI Gene PubMed Count',NULL,5731,NULL,NULL,NULL,20,NULL,NULL,NULL),(26414,'NCBI Gene Summary',NULL,5732,NULL,'This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(26415,'NCBI Gene PubMed Count',NULL,5732,NULL,NULL,NULL,9,NULL,NULL,NULL),(26416,'NCBI Gene Summary',NULL,5733,NULL,'The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26417,'NCBI Gene PubMed Count',NULL,5733,NULL,NULL,NULL,63,NULL,NULL,NULL),(26418,'NCBI Gene PubMed Count',NULL,5734,NULL,NULL,NULL,4,NULL,NULL,NULL),(26419,'NCBI Gene Summary',NULL,5735,NULL,'This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(26420,'NCBI Gene PubMed Count',NULL,5735,NULL,NULL,NULL,60,NULL,NULL,NULL),(26421,'NCBI Gene Summary',NULL,5736,NULL,'This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(26422,'NCBI Gene PubMed Count',NULL,5736,NULL,NULL,NULL,38,NULL,NULL,NULL),(26423,'NCBI Gene PubMed Count',NULL,5737,NULL,NULL,NULL,3,NULL,NULL,NULL),(26424,'NCBI Gene Summary',NULL,5738,NULL,' Members of the \'frizzled\' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins.  The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif.  FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26425,'NCBI Gene PubMed Count',NULL,5738,NULL,NULL,NULL,70,NULL,NULL,NULL),(26426,'NCBI Gene Summary',NULL,5739,NULL,'This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26427,'NCBI Gene PubMed Count',NULL,5739,NULL,NULL,NULL,37,NULL,NULL,NULL),(26428,'NCBI Gene Summary',NULL,5740,NULL,'This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(26429,'NCBI Gene PubMed Count',NULL,5740,NULL,NULL,NULL,54,NULL,NULL,NULL),(26430,'NCBI Gene PubMed Count',NULL,5741,NULL,NULL,NULL,4,NULL,NULL,NULL),(26431,'NCBI Gene Summary',NULL,5742,NULL,'This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(26432,'NCBI Gene PubMed Count',NULL,5742,NULL,NULL,NULL,22,NULL,NULL,NULL),(26433,'NCBI Gene PubMed Count',NULL,5743,NULL,NULL,NULL,6,NULL,NULL,NULL),(26434,'NCBI Gene Summary',NULL,5744,NULL,'This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild (\'peripheral\' form) to severe (\'generalized\' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26435,'NCBI Gene PubMed Count',NULL,5744,NULL,NULL,NULL,38,NULL,NULL,NULL),(26436,'NCBI Gene Summary',NULL,5745,NULL,'Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26437,'NCBI Gene PubMed Count',NULL,5745,NULL,NULL,NULL,35,NULL,NULL,NULL),(26438,'NCBI Gene PubMed Count',NULL,5746,NULL,NULL,NULL,21,NULL,NULL,NULL),(26439,'NCBI Gene Summary',NULL,5747,NULL,'This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26440,'NCBI Gene PubMed Count',NULL,5747,NULL,NULL,NULL,234,NULL,NULL,NULL),(26441,'NCBI Gene PubMed Count',NULL,5748,NULL,NULL,NULL,63,NULL,NULL,NULL),(26442,'NCBI Gene Summary',NULL,5749,NULL,'This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(26443,'NCBI Gene PubMed Count',NULL,5749,NULL,NULL,NULL,42,NULL,NULL,NULL),(26444,'NCBI Gene Summary',NULL,5750,NULL,'The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(26445,'NCBI Gene PubMed Count',NULL,5750,NULL,NULL,NULL,13,NULL,NULL,NULL),(26446,'NCBI Gene Summary',NULL,5751,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26447,'NCBI Gene PubMed Count',NULL,5751,NULL,NULL,NULL,34,NULL,NULL,NULL),(26448,'NCBI Gene PubMed Count',NULL,5752,NULL,NULL,NULL,2,NULL,NULL,NULL),(26449,'NCBI Gene Summary',NULL,5753,NULL,'The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(26450,'NCBI Gene PubMed Count',NULL,5753,NULL,NULL,NULL,285,NULL,NULL,NULL),(26451,'NCBI Gene Summary',NULL,5754,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(26452,'NCBI Gene PubMed Count',NULL,5754,NULL,NULL,NULL,14,NULL,NULL,NULL),(26453,'NCBI Gene Summary',NULL,5755,NULL,'This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(26454,'NCBI Gene PubMed Count',NULL,5755,NULL,NULL,NULL,45,NULL,NULL,NULL),(26455,'NCBI Gene Summary',NULL,5756,NULL,'Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(26456,'NCBI Gene PubMed Count',NULL,5756,NULL,NULL,NULL,108,NULL,NULL,NULL),(26457,'NCBI Gene Summary',NULL,5757,NULL,'This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(26458,'NCBI Gene PubMed Count',NULL,5757,NULL,NULL,NULL,36,NULL,NULL,NULL),(26459,'NCBI Gene Summary',NULL,5758,NULL,'Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(26460,'NCBI Gene PubMed Count',NULL,5758,NULL,NULL,NULL,39,NULL,NULL,NULL),(26461,'NCBI Gene PubMed Count',NULL,5759,NULL,NULL,NULL,26,NULL,NULL,NULL),(26462,'NCBI Gene Summary',NULL,5760,NULL,'This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(26463,'NCBI Gene PubMed Count',NULL,5760,NULL,NULL,NULL,61,NULL,NULL,NULL),(26464,'NCBI Gene Summary',NULL,5761,NULL,'This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(26465,'NCBI Gene PubMed Count',NULL,5761,NULL,NULL,NULL,173,NULL,NULL,NULL),(26466,'NCBI Gene Summary',NULL,5762,NULL,'This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(26467,'NCBI Gene PubMed Count',NULL,5762,NULL,NULL,NULL,23,NULL,NULL,NULL),(26468,'NCBI Gene Summary',NULL,5763,NULL,'This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26469,'NCBI Gene PubMed Count',NULL,5763,NULL,NULL,NULL,161,NULL,NULL,NULL),(26470,'NCBI Gene Summary',NULL,5764,NULL,'This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(26471,'NCBI Gene PubMed Count',NULL,5764,NULL,NULL,NULL,22,NULL,NULL,NULL),(26472,'NCBI Gene Summary',NULL,5765,NULL,'This gene encodes a member of the O class of winged helix/forkhead transcription factor family. Proteins encoded by this class are regulated by factors involved in growth and differentiation indicating they play a role in these processes. A translocation involving this gene on chromosome X and the homolog of the Drosophila trithorax gene, encoding a DNA binding protein, located on chromosome 11 is associated with leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(26473,'NCBI Gene PubMed Count',NULL,5765,NULL,NULL,NULL,100,NULL,NULL,NULL),(26474,'NCBI Gene Summary',NULL,5766,NULL,'This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26475,'NCBI Gene PubMed Count',NULL,5766,NULL,NULL,NULL,136,NULL,NULL,NULL),(26476,'NCBI Gene Summary',NULL,5767,NULL,'The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26477,'NCBI Gene PubMed Count',NULL,5767,NULL,NULL,NULL,35,NULL,NULL,NULL),(26478,'NCBI Gene Summary',NULL,5768,NULL,'This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer\'s disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(26479,'NCBI Gene PubMed Count',NULL,5768,NULL,NULL,NULL,23,NULL,NULL,NULL),(26480,'NCBI Gene PubMed Count',NULL,5769,NULL,NULL,NULL,6,NULL,NULL,NULL),(26481,'NCBI Gene Summary',NULL,5770,NULL,'This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(26482,'NCBI Gene PubMed Count',NULL,5770,NULL,NULL,NULL,20,NULL,NULL,NULL),(26483,'NCBI Gene PubMed Count',NULL,5771,NULL,NULL,NULL,5,NULL,NULL,NULL),(26484,'NCBI Gene Summary',NULL,5772,NULL,'The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(26485,'NCBI Gene PubMed Count',NULL,5772,NULL,NULL,NULL,18,NULL,NULL,NULL),(26486,'NCBI Gene Summary',NULL,5773,NULL,'The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated with skin diseases. This protein also has a function in skin barrier protection. In fact, in addition to providing a physical barrier, C-terminal fragments of this protein display antimicrobial activity against P. aeruginosa. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(26487,'NCBI Gene PubMed Count',NULL,5773,NULL,NULL,NULL,17,NULL,NULL,NULL),(26488,'NCBI Gene PubMed Count',NULL,5774,NULL,NULL,NULL,11,NULL,NULL,NULL),(26489,'NCBI Gene Summary',NULL,5775,NULL,'This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(26490,'NCBI Gene PubMed Count',NULL,5775,NULL,NULL,NULL,58,NULL,NULL,NULL),(26491,'NCBI Gene Summary',NULL,5776,NULL,'This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(26492,'NCBI Gene PubMed Count',NULL,5776,NULL,NULL,NULL,631,NULL,NULL,NULL),(26493,'NCBI Gene Summary',NULL,5777,NULL,'FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]',NULL,NULL,NULL,NULL,NULL),(26494,'NCBI Gene PubMed Count',NULL,5777,NULL,NULL,NULL,9,NULL,NULL,NULL),(26495,'NCBI Gene Summary',NULL,5778,NULL,'This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(26496,'NCBI Gene PubMed Count',NULL,5778,NULL,NULL,NULL,444,NULL,NULL,NULL),(26497,'NCBI Gene PubMed Count',NULL,5779,NULL,NULL,NULL,3,NULL,NULL,NULL),(26498,'NCBI Gene Summary',NULL,5780,NULL,'This gene encodes a protein that binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK), and may play a role cellular metabolism and nutrient sensing by regulating the AMPK-mechanistic target of rapamycin signaling pathway. The encoded protein may also be involved in regulating the O6-methylguanine-induced apoptosis signaling pathway. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(26499,'NCBI Gene PubMed Count',NULL,5780,NULL,NULL,NULL,14,NULL,NULL,NULL),(26500,'NCBI Gene PubMed Count',NULL,5781,NULL,NULL,NULL,30,NULL,NULL,NULL),(26501,'NCBI Gene Summary',NULL,5782,NULL,'This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26502,'NCBI Gene PubMed Count',NULL,5782,NULL,NULL,NULL,24,NULL,NULL,NULL),(26503,'NCBI Gene PubMed Count',NULL,5783,NULL,NULL,NULL,4,NULL,NULL,NULL),(26504,'NCBI Gene Summary',NULL,5784,NULL,'This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain.  The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26505,'NCBI Gene PubMed Count',NULL,5784,NULL,NULL,NULL,519,NULL,NULL,NULL),(26506,'NCBI Gene Summary',NULL,5785,NULL,'This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(26507,'NCBI Gene PubMed Count',NULL,5785,NULL,NULL,NULL,16,NULL,NULL,NULL),(26508,'NCBI Gene PubMed Count',NULL,5786,NULL,NULL,NULL,3,NULL,NULL,NULL),(26509,'NCBI Gene Summary',NULL,5787,NULL,'This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific to spermatogenic cells. Copy number variation in this gene may be associated with testicular germ cell tumors. Pseudogenes associated with this gene are reported on chromosomes 2 and X. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(26510,'NCBI Gene PubMed Count',NULL,5787,NULL,NULL,NULL,9,NULL,NULL,NULL),(26511,'NCBI Gene PubMed Count',NULL,5788,NULL,NULL,NULL,7,NULL,NULL,NULL),(26512,'NCBI Gene PubMed Count',NULL,5789,NULL,NULL,NULL,40,NULL,NULL,NULL),(26513,'NCBI Gene PubMed Count',NULL,5790,NULL,NULL,NULL,15,NULL,NULL,NULL),(26514,'NCBI Gene PubMed Count',NULL,5791,NULL,NULL,NULL,7,NULL,NULL,NULL),(26515,'NCBI Gene PubMed Count',NULL,5792,NULL,NULL,NULL,10,NULL,NULL,NULL),(26516,'NCBI Gene PubMed Count',NULL,5793,NULL,NULL,NULL,13,NULL,NULL,NULL),(26517,'NCBI Gene Summary',NULL,5794,NULL,'This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(26518,'NCBI Gene PubMed Count',NULL,5794,NULL,NULL,NULL,8,NULL,NULL,NULL),(26519,'NCBI Gene PubMed Count',NULL,5795,NULL,NULL,NULL,65,NULL,NULL,NULL),(26520,'NCBI Gene Summary',NULL,5796,NULL,'Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26521,'NCBI Gene PubMed Count',NULL,5796,NULL,NULL,NULL,9,NULL,NULL,NULL),(26522,'NCBI Gene Summary',NULL,5797,NULL,'This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(26523,'NCBI Gene PubMed Count',NULL,5797,NULL,NULL,NULL,11,NULL,NULL,NULL),(26524,'NCBI Gene Summary',NULL,5798,NULL,'Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26525,'NCBI Gene PubMed Count',NULL,5798,NULL,NULL,NULL,12,NULL,NULL,NULL),(26526,'NCBI Gene Summary',NULL,5799,NULL,'The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(26527,'NCBI Gene PubMed Count',NULL,5799,NULL,NULL,NULL,24,NULL,NULL,NULL),(26528,'NCBI Gene PubMed Count',NULL,5800,NULL,NULL,NULL,14,NULL,NULL,NULL),(26529,'NCBI Gene Summary',NULL,5801,NULL,' Members of the \'frizzled\' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins.  The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype.  FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26530,'NCBI Gene PubMed Count',NULL,5801,NULL,NULL,NULL,24,NULL,NULL,NULL),(26531,'NCBI Gene Summary',NULL,5802,NULL,'Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. This gene encodes galactosylceramide sulfotransferase, which catalyzes the sulfation of membrane glycolipids including the final step in the synthesis of sulfatide, a major lipid component of the myelin sheath. This gene exhibits elevated expression in ovarian epithelial carcinoma and the encoded enzyme exhibits elevated activity in renal cell carcinoma. Mutations in this gene may be associated with reduced insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(26532,'NCBI Gene PubMed Count',NULL,5802,NULL,NULL,NULL,18,NULL,NULL,NULL),(26533,'NCBI Gene Summary',NULL,5803,NULL,'This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(26534,'NCBI Gene PubMed Count',NULL,5803,NULL,NULL,NULL,91,NULL,NULL,NULL),(26535,'NCBI Gene Summary',NULL,5804,NULL,'This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(26536,'NCBI Gene PubMed Count',NULL,5804,NULL,NULL,NULL,123,NULL,NULL,NULL),(26537,'NCBI Gene Summary',NULL,5805,NULL,'This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(26538,'NCBI Gene PubMed Count',NULL,5805,NULL,NULL,NULL,33,NULL,NULL,NULL),(26539,'NCBI Gene PubMed Count',NULL,5806,NULL,NULL,NULL,13,NULL,NULL,NULL),(26540,'NCBI Gene Summary',NULL,5807,NULL,'The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors.  Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways.  GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family.  GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26541,'NCBI Gene PubMed Count',NULL,5807,NULL,NULL,NULL,40,NULL,NULL,NULL),(26542,'NCBI Gene Summary',NULL,5808,NULL,'This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(26543,'NCBI Gene PubMed Count',NULL,5808,NULL,NULL,NULL,135,NULL,NULL,NULL),(26544,'NCBI Gene PubMed Count',NULL,5809,NULL,NULL,NULL,1,NULL,NULL,NULL),(26545,'NCBI Gene Summary',NULL,5810,NULL,'This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(26546,'NCBI Gene PubMed Count',NULL,5810,NULL,NULL,NULL,127,NULL,NULL,NULL),(26547,'NCBI Gene Summary',NULL,5811,NULL,'This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn\'s disease, Graves\' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(26548,'NCBI Gene PubMed Count',NULL,5811,NULL,NULL,NULL,35,NULL,NULL,NULL),(26549,'NCBI Gene Summary',NULL,5812,NULL,'This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(26550,'NCBI Gene PubMed Count',NULL,5812,NULL,NULL,NULL,25,NULL,NULL,NULL),(26551,'NCBI Gene PubMed Count',NULL,5813,NULL,NULL,NULL,0,NULL,NULL,NULL),(26552,'NCBI Gene Summary',NULL,5814,NULL,'This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(26553,'NCBI Gene PubMed Count',NULL,5814,NULL,NULL,NULL,57,NULL,NULL,NULL),(26554,'NCBI Gene Summary',NULL,5815,NULL,'This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(26555,'NCBI Gene PubMed Count',NULL,5815,NULL,NULL,NULL,12,NULL,NULL,NULL),(26556,'NCBI Gene PubMed Count',NULL,5816,NULL,NULL,NULL,12,NULL,NULL,NULL),(26557,'NCBI Gene PubMed Count',NULL,5817,NULL,NULL,NULL,11,NULL,NULL,NULL),(26558,'NCBI Gene Summary',NULL,5818,NULL,'The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(26559,'NCBI Gene PubMed Count',NULL,5818,NULL,NULL,NULL,63,NULL,NULL,NULL),(26560,'NCBI Gene Summary',NULL,5819,NULL,'This gene encodes a protein with a FUN14 superfamily domain. The function of the encoded protein is not known. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(26561,'NCBI Gene PubMed Count',NULL,5819,NULL,NULL,NULL,18,NULL,NULL,NULL),(26562,'NCBI Gene PubMed Count',NULL,5820,NULL,NULL,NULL,6,NULL,NULL,NULL),(26563,'NCBI Gene PubMed Count',NULL,5821,NULL,NULL,NULL,17,NULL,NULL,NULL),(26564,'NCBI Gene Summary',NULL,5822,NULL,'The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26565,'NCBI Gene PubMed Count',NULL,5822,NULL,NULL,NULL,41,NULL,NULL,NULL),(26566,'NCBI Gene Summary',NULL,5823,NULL,'Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26567,'NCBI Gene PubMed Count',NULL,5823,NULL,NULL,NULL,12,NULL,NULL,NULL),(26568,'NCBI Gene PubMed Count',NULL,5824,NULL,NULL,NULL,7,NULL,NULL,NULL),(26569,'NCBI Gene PubMed Count',NULL,5825,NULL,NULL,NULL,4,NULL,NULL,NULL),(26570,'NCBI Gene Summary',NULL,5826,NULL,'The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26571,'NCBI Gene PubMed Count',NULL,5826,NULL,NULL,NULL,135,NULL,NULL,NULL),(26572,'NCBI Gene Summary',NULL,5827,NULL,'This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. Alternative splicing results in multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(26573,'NCBI Gene PubMed Count',NULL,5827,NULL,NULL,NULL,41,NULL,NULL,NULL),(26574,'NCBI Gene Summary',NULL,5828,NULL,'This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26575,'NCBI Gene PubMed Count',NULL,5828,NULL,NULL,NULL,81,NULL,NULL,NULL),(26576,'NCBI Gene Summary',NULL,5829,NULL,'This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26577,'NCBI Gene PubMed Count',NULL,5829,NULL,NULL,NULL,44,NULL,NULL,NULL),(26578,'NCBI Gene Summary',NULL,5830,NULL,'This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26579,'NCBI Gene PubMed Count',NULL,5830,NULL,NULL,NULL,6,NULL,NULL,NULL),(26580,'NCBI Gene PubMed Count',NULL,5831,NULL,NULL,NULL,16,NULL,NULL,NULL),(26581,'NCBI Gene Summary',NULL,5832,NULL,'The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26582,'NCBI Gene PubMed Count',NULL,5832,NULL,NULL,NULL,48,NULL,NULL,NULL),(26583,'NCBI Gene PubMed Count',NULL,5833,NULL,NULL,NULL,12,NULL,NULL,NULL),(26584,'NCBI Gene Summary',NULL,5834,NULL,'This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(26585,'NCBI Gene PubMed Count',NULL,5834,NULL,NULL,NULL,37,NULL,NULL,NULL),(26586,'NCBI Gene Summary',NULL,5835,NULL,'The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26587,'NCBI Gene PubMed Count',NULL,5835,NULL,NULL,NULL,44,NULL,NULL,NULL),(26588,'NCBI Gene Summary',NULL,5836,NULL,'The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26589,'NCBI Gene PubMed Count',NULL,5836,NULL,NULL,NULL,876,NULL,NULL,NULL),(26590,'NCBI Gene Summary',NULL,5837,NULL,'The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich motifs of the HIV long terminal repeat (LTR), and to the similar purine-rich motif in the interleukin 2 (IL2) promoter. It may be involved in the regulation of viral and cellular promoter elements. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26591,'NCBI Gene PubMed Count',NULL,5837,NULL,NULL,NULL,28,NULL,NULL,NULL),(26592,'NCBI Gene Summary',NULL,5838,NULL,'This locus encodes a member of the forked-head transcription factor family. The encoded protein, which functions as a repressor, may play a role in brain development. Mutations at this locus have been associated with Rett syndrome. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(26593,'NCBI Gene PubMed Count',NULL,5838,NULL,NULL,NULL,70,NULL,NULL,NULL),(26594,'NCBI Gene Summary',NULL,5839,NULL,'This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain.  The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development.  Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26595,'NCBI Gene PubMed Count',NULL,5839,NULL,NULL,NULL,147,NULL,NULL,NULL),(26596,'NCBI Gene Summary',NULL,5840,NULL,'FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26597,'NCBI Gene PubMed Count',NULL,5840,NULL,NULL,NULL,28,NULL,NULL,NULL),(26598,'NCBI Gene PubMed Count',NULL,5841,NULL,NULL,NULL,15,NULL,NULL,NULL),(26599,'NCBI Gene PubMed Count',NULL,5842,NULL,NULL,NULL,24,NULL,NULL,NULL),(26600,'NCBI Gene Summary',NULL,5843,NULL,'This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3\'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26601,'NCBI Gene PubMed Count',NULL,5843,NULL,NULL,NULL,84,NULL,NULL,NULL),(26602,'NCBI Gene PubMed Count',NULL,5844,NULL,NULL,NULL,7,NULL,NULL,NULL),(26603,'NCBI Gene Summary',NULL,5845,NULL,'This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26604,'NCBI Gene PubMed Count',NULL,5845,NULL,NULL,NULL,461,NULL,NULL,NULL),(26605,'NCBI Gene Summary',NULL,5846,NULL,'This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(26606,'NCBI Gene PubMed Count',NULL,5846,NULL,NULL,NULL,15,NULL,NULL,NULL),(26607,'NCBI Gene PubMed Count',NULL,5847,NULL,NULL,NULL,7,NULL,NULL,NULL),(26608,'NCBI Gene Summary',NULL,5848,NULL,'This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(26609,'NCBI Gene PubMed Count',NULL,5848,NULL,NULL,NULL,16,NULL,NULL,NULL),(26610,'NCBI Gene Summary',NULL,5849,NULL,'The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(26611,'NCBI Gene PubMed Count',NULL,5849,NULL,NULL,NULL,129,NULL,NULL,NULL),(26612,'NCBI Gene Summary',NULL,5850,NULL,'This gene encodes an ankyrin repeat protein that belongs to the death receptor-associated family of proteins and plays a role in mediating apoptosis. The encoded protein is also thought to function in the replication stress-induced checkpoint signaling pathway via interaction with checkpoint kinase 1. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(26613,'NCBI Gene PubMed Count',NULL,5850,NULL,NULL,NULL,18,NULL,NULL,NULL),(26614,'NCBI Gene Summary',NULL,5851,NULL,'This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(26615,'NCBI Gene PubMed Count',NULL,5851,NULL,NULL,NULL,24,NULL,NULL,NULL),(26616,'NCBI Gene PubMed Count',NULL,5852,NULL,NULL,NULL,4,NULL,NULL,NULL),(26617,'NCBI Gene Summary',NULL,5853,NULL,'This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(26618,'NCBI Gene PubMed Count',NULL,5853,NULL,NULL,NULL,42,NULL,NULL,NULL),(26619,'NCBI Gene Summary',NULL,5854,NULL,'The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26620,'NCBI Gene PubMed Count',NULL,5854,NULL,NULL,NULL,60,NULL,NULL,NULL),(26621,'NCBI Gene Summary',NULL,5855,NULL,'This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26622,'NCBI Gene PubMed Count',NULL,5855,NULL,NULL,NULL,95,NULL,NULL,NULL),(26623,'NCBI Gene Summary',NULL,5856,NULL,'This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(26624,'NCBI Gene PubMed Count',NULL,5856,NULL,NULL,NULL,17,NULL,NULL,NULL),(26625,'NCBI Gene Summary',NULL,5857,NULL,'The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26626,'NCBI Gene PubMed Count',NULL,5857,NULL,NULL,NULL,17,NULL,NULL,NULL),(26627,'NCBI Gene Summary',NULL,5858,NULL,'This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26628,'NCBI Gene PubMed Count',NULL,5858,NULL,NULL,NULL,80,NULL,NULL,NULL),(26629,'NCBI Gene Summary',NULL,5859,NULL,'The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(26630,'NCBI Gene PubMed Count',NULL,5859,NULL,NULL,NULL,119,NULL,NULL,NULL),(26631,'NCBI Gene Summary',NULL,5860,NULL,'This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. Mutations in this gene are associated with a complex phenotype consisting of dilated cardiomyopathy, obsessive-compulsive disorders, and suicidality. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(26632,'NCBI Gene PubMed Count',NULL,5860,NULL,NULL,NULL,19,NULL,NULL,NULL),(26633,'NCBI Gene Summary',NULL,5861,NULL,'Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5\' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26634,'NCBI Gene PubMed Count',NULL,5861,NULL,NULL,NULL,22,NULL,NULL,NULL),(26635,'NCBI Gene Summary',NULL,5862,NULL,'This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26636,'NCBI Gene PubMed Count',NULL,5862,NULL,NULL,NULL,62,NULL,NULL,NULL),(26637,'NCBI Gene Summary',NULL,5863,NULL,'Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26638,'NCBI Gene PubMed Count',NULL,5863,NULL,NULL,NULL,49,NULL,NULL,NULL),(26639,'NCBI Gene PubMed Count',NULL,5864,NULL,NULL,NULL,9,NULL,NULL,NULL),(26640,'NCBI Gene Summary',NULL,5865,NULL,'The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(26641,'NCBI Gene PubMed Count',NULL,5865,NULL,NULL,NULL,12,NULL,NULL,NULL),(26642,'NCBI Gene Summary',NULL,5866,NULL,'This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26643,'NCBI Gene PubMed Count',NULL,5866,NULL,NULL,NULL,157,NULL,NULL,NULL),(26644,'NCBI Gene Summary',NULL,5867,NULL,'This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26645,'NCBI Gene PubMed Count',NULL,5867,NULL,NULL,NULL,194,NULL,NULL,NULL),(26646,'NCBI Gene Summary',NULL,5868,NULL,'This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(26647,'NCBI Gene PubMed Count',NULL,5868,NULL,NULL,NULL,30,NULL,NULL,NULL),(26648,'NCBI Gene Summary',NULL,5869,NULL,'The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(26649,'NCBI Gene PubMed Count',NULL,5869,NULL,NULL,NULL,129,NULL,NULL,NULL),(26650,'NCBI Gene Summary',NULL,5870,NULL,'This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain.  The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26651,'NCBI Gene PubMed Count',NULL,5870,NULL,NULL,NULL,60,NULL,NULL,NULL),(26652,'NCBI Gene PubMed Count',NULL,5871,NULL,NULL,NULL,22,NULL,NULL,NULL),(26653,'NCBI Gene Summary',NULL,5872,NULL,'This gene is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 and G2. Checkpoint suppressor 1 suppresses multiple yeast checkpoint mutations including mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. Alternative splicing is observed at the locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26654,'NCBI Gene PubMed Count',NULL,5872,NULL,NULL,NULL,30,NULL,NULL,NULL),(26655,'NCBI Gene Summary',NULL,5873,NULL,'This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(26656,'NCBI Gene PubMed Count',NULL,5873,NULL,NULL,NULL,113,NULL,NULL,NULL),(26657,'NCBI Gene Summary',NULL,5874,NULL,'This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(26658,'NCBI Gene PubMed Count',NULL,5874,NULL,NULL,NULL,27,NULL,NULL,NULL),(26659,'NCBI Gene PubMed Count',NULL,5875,NULL,NULL,NULL,3,NULL,NULL,NULL),(26660,'NCBI Gene Summary',NULL,5876,NULL,'This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26661,'NCBI Gene PubMed Count',NULL,5876,NULL,NULL,NULL,24,NULL,NULL,NULL),(26662,'NCBI Gene Summary',NULL,5877,NULL,'This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(26663,'NCBI Gene PubMed Count',NULL,5877,NULL,NULL,NULL,13,NULL,NULL,NULL),(26664,'NCBI Gene Summary',NULL,5878,NULL,'The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26665,'NCBI Gene PubMed Count',NULL,5878,NULL,NULL,NULL,80,NULL,NULL,NULL),(26666,'NCBI Gene Summary',NULL,5879,NULL,' Members of the \'frizzled\' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins.  The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif.  The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26667,'NCBI Gene PubMed Count',NULL,5879,NULL,NULL,NULL,49,NULL,NULL,NULL),(26668,'NCBI Gene Summary',NULL,5880,NULL,'This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(26669,'NCBI Gene PubMed Count',NULL,5880,NULL,NULL,NULL,28,NULL,NULL,NULL),(26670,'NCBI Gene PubMed Count',NULL,5881,NULL,NULL,NULL,15,NULL,NULL,NULL),(26671,'NCBI Gene Summary',NULL,5882,NULL,'This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the 3\' position of galactose in N-acetyllactosamine in both type 2 (Gal-beta-1-4GlcNAc-R) oligosaccharides and core-2-branched O-glycans, but not on type 1 or core-1-branched structures. This gene, which has also been referred to as GAL3ST2, is different from the GAL3ST2 gene located on chromosome 2 that encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26672,'NCBI Gene PubMed Count',NULL,5882,NULL,NULL,NULL,10,NULL,NULL,NULL),(26673,'NCBI Gene Summary',NULL,5883,NULL,'This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(26674,'NCBI Gene PubMed Count',NULL,5883,NULL,NULL,NULL,159,NULL,NULL,NULL),(26675,'NCBI Gene Summary',NULL,5884,NULL,'This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(26676,'NCBI Gene PubMed Count',NULL,5884,NULL,NULL,NULL,68,NULL,NULL,NULL),(26677,'NCBI Gene PubMed Count',NULL,5885,NULL,NULL,NULL,4,NULL,NULL,NULL),(26678,'NCBI Gene Summary',NULL,5886,NULL,'The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(26679,'NCBI Gene PubMed Count',NULL,5886,NULL,NULL,NULL,22,NULL,NULL,NULL),(26680,'NCBI Gene PubMed Count',NULL,5887,NULL,NULL,NULL,25,NULL,NULL,NULL),(26681,'NCBI Gene Summary',NULL,5888,NULL,'Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26682,'NCBI Gene PubMed Count',NULL,5888,NULL,NULL,NULL,37,NULL,NULL,NULL),(26683,'NCBI Gene Summary',NULL,5889,NULL,'This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(26684,'NCBI Gene PubMed Count',NULL,5889,NULL,NULL,NULL,50,NULL,NULL,NULL),(26685,'NCBI Gene PubMed Count',NULL,5890,NULL,NULL,NULL,11,NULL,NULL,NULL),(26686,'NCBI Gene Summary',NULL,5891,NULL,'This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. They bind ligands called ephrins and are involved in diverse cellular processes including motility, division, and differentiation. A distinguishing characteristic of Eph-ephrin signaling is that both receptors and ligands are competent to transduce a signaling cascade, resulting in bidirectional signaling. This protein belongs to a subgroup of the Eph receptors called EphB. Proteins of this subgroup are distinguished from other members of the family by sequence homology and preferential binding affinity for membrane-bound ephrin-B ligands. Allelic variants are associated with prostate and brain cancer susceptibility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]',NULL,NULL,NULL,NULL,NULL),(26687,'NCBI Gene PubMed Count',NULL,5891,NULL,NULL,NULL,139,NULL,NULL,NULL),(26688,'NCBI Gene Summary',NULL,5892,NULL,'The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(26689,'NCBI Gene PubMed Count',NULL,5892,NULL,NULL,NULL,13,NULL,NULL,NULL),(26690,'NCBI Gene Summary',NULL,5893,NULL,'This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(26691,'NCBI Gene PubMed Count',NULL,5893,NULL,NULL,NULL,19,NULL,NULL,NULL),(26692,'NCBI Gene PubMed Count',NULL,5894,NULL,NULL,NULL,5,NULL,NULL,NULL),(26693,'NCBI Gene PubMed Count',NULL,5895,NULL,NULL,NULL,15,NULL,NULL,NULL),(26694,'NCBI Gene Summary',NULL,5896,NULL,'The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26695,'NCBI Gene PubMed Count',NULL,5896,NULL,NULL,NULL,45,NULL,NULL,NULL),(26696,'NCBI Gene Summary',NULL,5897,NULL,'Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26697,'NCBI Gene PubMed Count',NULL,5897,NULL,NULL,NULL,23,NULL,NULL,NULL),(26698,'NCBI Gene PubMed Count',NULL,5898,NULL,NULL,NULL,19,NULL,NULL,NULL),(26699,'NCBI Gene Summary',NULL,5899,NULL,'The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26700,'NCBI Gene PubMed Count',NULL,5899,NULL,NULL,NULL,100,NULL,NULL,NULL),(26701,'NCBI Gene PubMed Count',NULL,5900,NULL,NULL,NULL,11,NULL,NULL,NULL),(26702,'NCBI Gene Summary',NULL,5901,NULL,'Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26703,'NCBI Gene PubMed Count',NULL,5901,NULL,NULL,NULL,18,NULL,NULL,NULL),(26704,'NCBI Gene Summary',NULL,5902,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26705,'NCBI Gene PubMed Count',NULL,5902,NULL,NULL,NULL,31,NULL,NULL,NULL),(26706,'NCBI Gene PubMed Count',NULL,5903,NULL,NULL,NULL,8,NULL,NULL,NULL),(26707,'NCBI Gene Summary',NULL,5904,NULL,'This gene encodes a member of a family of proteins that are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene is expressed in cardiac cells and is required for proper heart development. Mutation in this gene was also observed in individuals with metacarpal 4-5 fusion. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(26708,'NCBI Gene PubMed Count',NULL,5904,NULL,NULL,NULL,16,NULL,NULL,NULL),(26709,'NCBI Gene Summary',NULL,5905,NULL,'This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(26710,'NCBI Gene PubMed Count',NULL,5905,NULL,NULL,NULL,25,NULL,NULL,NULL),(26711,'NCBI Gene PubMed Count',NULL,5906,NULL,NULL,NULL,11,NULL,NULL,NULL),(26712,'NCBI Gene Summary',NULL,5907,NULL,'This gene encodes a ferritin heavy chain-like protein. This gene is primarily expressed in embryonic germ cells. The encoded protein may lack ferroxidase activity. Multiple pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(26713,'NCBI Gene PubMed Count',NULL,5907,NULL,NULL,NULL,9,NULL,NULL,NULL),(26714,'NCBI Gene Summary',NULL,5908,NULL,'The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26715,'NCBI Gene PubMed Count',NULL,5908,NULL,NULL,NULL,234,NULL,NULL,NULL),(26716,'NCBI Gene PubMed Count',NULL,5909,NULL,NULL,NULL,1,NULL,NULL,NULL),(26717,'NCBI Gene PubMed Count',NULL,5910,NULL,NULL,NULL,13,NULL,NULL,NULL),(26718,'NCBI Gene PubMed Count',NULL,5911,NULL,NULL,NULL,6,NULL,NULL,NULL),(26719,'NCBI Gene Summary',NULL,5912,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26720,'NCBI Gene PubMed Count',NULL,5912,NULL,NULL,NULL,53,NULL,NULL,NULL),(26721,'NCBI Gene Summary',NULL,5913,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26722,'NCBI Gene PubMed Count',NULL,5913,NULL,NULL,NULL,21,NULL,NULL,NULL),(26723,'NCBI Gene PubMed Count',NULL,5914,NULL,NULL,NULL,10,NULL,NULL,NULL),(26724,'NCBI Gene Summary',NULL,5915,NULL,'The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(26725,'NCBI Gene PubMed Count',NULL,5915,NULL,NULL,NULL,48,NULL,NULL,NULL),(26726,'NCBI Gene Summary',NULL,5916,NULL,'This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(26727,'NCBI Gene PubMed Count',NULL,5916,NULL,NULL,NULL,17,NULL,NULL,NULL),(26728,'NCBI Gene PubMed Count',NULL,5917,NULL,NULL,NULL,14,NULL,NULL,NULL),(26729,'NCBI Gene Summary',NULL,5918,NULL,'This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(26730,'NCBI Gene PubMed Count',NULL,5918,NULL,NULL,NULL,65,NULL,NULL,NULL),(26731,'NCBI Gene Summary',NULL,5919,NULL,'The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(26732,'NCBI Gene PubMed Count',NULL,5919,NULL,NULL,NULL,394,NULL,NULL,NULL),(26733,'NCBI Gene Summary',NULL,5920,NULL,'Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26734,'NCBI Gene PubMed Count',NULL,5920,NULL,NULL,NULL,17,NULL,NULL,NULL),(26735,'NCBI Gene Summary',NULL,5921,NULL,'The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26736,'NCBI Gene PubMed Count',NULL,5921,NULL,NULL,NULL,41,NULL,NULL,NULL),(26737,'NCBI Gene Summary',NULL,5922,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The mouse homolog of this gene was found to be preferentially expressed in the inner root sheath of the hair follicle, which suggested a role in hair development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(26738,'NCBI Gene PubMed Count',NULL,5922,NULL,NULL,NULL,13,NULL,NULL,NULL),(26739,'NCBI Gene Summary',NULL,5923,NULL,'The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26740,'NCBI Gene PubMed Count',NULL,5923,NULL,NULL,NULL,57,NULL,NULL,NULL),(26741,'NCBI Gene Summary',NULL,5924,NULL,'The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, as well as histone deacetylases, the transcription factor YY1, casein kinase II, and nucleolin. It has a higher affinity for rapamycin than for FK506 and thus may be an important target molecule for immunosuppression by rapamycin. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(26742,'NCBI Gene PubMed Count',NULL,5924,NULL,NULL,NULL,24,NULL,NULL,NULL),(26743,'NCBI Gene Summary',NULL,5925,NULL,'The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26744,'NCBI Gene PubMed Count',NULL,5925,NULL,NULL,NULL,11,NULL,NULL,NULL),(26745,'NCBI Gene Summary',NULL,5926,NULL,'The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(26746,'NCBI Gene PubMed Count',NULL,5926,NULL,NULL,NULL,54,NULL,NULL,NULL),(26747,'NCBI Gene Summary',NULL,5927,NULL,'The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26748,'NCBI Gene PubMed Count',NULL,5927,NULL,NULL,NULL,19,NULL,NULL,NULL),(26749,'NCBI Gene PubMed Count',NULL,5928,NULL,NULL,NULL,1,NULL,NULL,NULL),(26750,'NCBI Gene Summary',NULL,5929,NULL,'This gene encodes a member of the fibronectin leucine rich transmembrane (FLRT) family of cell adhesion molecules, which regulate early embryonic vascular and neural development. The encoded type I transmembrane protein has an extracellular region consisting of an N-terminal leucine-rich repeat domain and a type 3 fibronectin domain, followed by a transmembrane domain and a short C-terminal cytoplasmic tail domain. It functions as both a homophilic cell adhesion molecule and a heterophilic chemorepellent through its interaction with members of the uncoordinated-5 receptor family. Proteolytic removal of the extracellular region controls the migration of neurons in the developing cortex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(26751,'NCBI Gene PubMed Count',NULL,5929,NULL,NULL,NULL,25,NULL,NULL,NULL),(26752,'NCBI Gene PubMed Count',NULL,5930,NULL,NULL,NULL,2,NULL,NULL,NULL),(26753,'NCBI Gene PubMed Count',NULL,5931,NULL,NULL,NULL,7,NULL,NULL,NULL),(26754,'NCBI Gene PubMed Count',NULL,5932,NULL,NULL,NULL,7,NULL,NULL,NULL),(26755,'NCBI Gene Summary',NULL,5933,NULL,'The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(26756,'NCBI Gene PubMed Count',NULL,5933,NULL,NULL,NULL,47,NULL,NULL,NULL),(26757,'NCBI Gene Summary',NULL,5934,NULL,'FOXQ1 is a member of the FOX gene family, which is characterized by a conserved 110-amino acid DNA-binding motif called the forkhead or winged helix domain. FOX genes are involved in embryonic development, cell cycle regulation, tissue-specific gene expression, cell signaling, and tumorigenesis (Bieller et al., 2001 [PubMed 11747606]).[supplied by OMIM, May 2009]',NULL,NULL,NULL,NULL,NULL),(26758,'NCBI Gene PubMed Count',NULL,5934,NULL,NULL,NULL,54,NULL,NULL,NULL),(26759,'NCBI Gene Summary',NULL,5935,NULL,'The protein encoded by this gene is a transcriptional activator involved in cell proliferation. The encoded protein is phosphorylated in M phase and regulates the expression of several cell cycle genes, such as cyclin B1 and cyclin D1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(26760,'NCBI Gene PubMed Count',NULL,5935,NULL,NULL,NULL,395,NULL,NULL,NULL),(26761,'NCBI Gene Summary',NULL,5936,NULL,'This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain.  The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26762,'NCBI Gene PubMed Count',NULL,5936,NULL,NULL,NULL,130,NULL,NULL,NULL),(26763,'NCBI Gene Summary',NULL,5937,NULL,'FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26764,'NCBI Gene PubMed Count',NULL,5937,NULL,NULL,NULL,10,NULL,NULL,NULL),(26765,'NCBI Gene Summary',NULL,5938,NULL,'This gene belongs to a family of proteins that mediate the transport of sugars across the cell membrane. The encoded protein transports glucose and fructose. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(26766,'NCBI Gene PubMed Count',NULL,5938,NULL,NULL,NULL,15,NULL,NULL,NULL),(26767,'NCBI Gene Summary',NULL,5939,NULL,'SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26768,'NCBI Gene PubMed Count',NULL,5939,NULL,NULL,NULL,20,NULL,NULL,NULL),(26769,'NCBI Gene Summary',NULL,5940,NULL,'This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26770,'NCBI Gene PubMed Count',NULL,5940,NULL,NULL,NULL,143,NULL,NULL,NULL),(26771,'NCBI Gene Summary',NULL,5941,NULL,'GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003]',NULL,NULL,NULL,NULL,NULL),(26772,'NCBI Gene PubMed Count',NULL,5941,NULL,NULL,NULL,13,NULL,NULL,NULL),(26773,'NCBI Gene PubMed Count',NULL,5942,NULL,NULL,NULL,92,NULL,NULL,NULL),(26774,'NCBI Gene Summary',NULL,5943,NULL,'Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26775,'NCBI Gene PubMed Count',NULL,5943,NULL,NULL,NULL,37,NULL,NULL,NULL),(26776,'NCBI Gene Summary',NULL,5944,NULL,'This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26777,'NCBI Gene PubMed Count',NULL,5944,NULL,NULL,NULL,28,NULL,NULL,NULL),(26778,'NCBI Gene Summary',NULL,5945,NULL,'The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is activated at alkaline pH. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(26779,'NCBI Gene PubMed Count',NULL,5945,NULL,NULL,NULL,19,NULL,NULL,NULL),(26780,'NCBI Gene Summary',NULL,5946,NULL,'The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(26781,'NCBI Gene PubMed Count',NULL,5946,NULL,NULL,NULL,19,NULL,NULL,NULL),(26782,'NCBI Gene Summary',NULL,5947,NULL,'This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(26783,'NCBI Gene PubMed Count',NULL,5947,NULL,NULL,NULL,18,NULL,NULL,NULL),(26784,'NCBI Gene Summary',NULL,5948,NULL,'This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-activated cyclic nucleotide-gated channel complex 3 and enhances its cell surface expression and current density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(26785,'NCBI Gene PubMed Count',NULL,5948,NULL,NULL,NULL,9,NULL,NULL,NULL),(26786,'NCBI Gene PubMed Count',NULL,5949,NULL,NULL,NULL,8,NULL,NULL,NULL),(26787,'NCBI Gene PubMed Count',NULL,5950,NULL,NULL,NULL,12,NULL,NULL,NULL),(26788,'NCBI Gene Summary',NULL,5951,NULL,'Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(26789,'NCBI Gene PubMed Count',NULL,5951,NULL,NULL,NULL,23,NULL,NULL,NULL),(26790,'NCBI Gene Summary',NULL,5952,NULL,'This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(26791,'NCBI Gene PubMed Count',NULL,5952,NULL,NULL,NULL,23,NULL,NULL,NULL),(26792,'NCBI Gene PubMed Count',NULL,5953,NULL,NULL,NULL,4,NULL,NULL,NULL),(26793,'NCBI Gene PubMed Count',NULL,5954,NULL,NULL,NULL,27,NULL,NULL,NULL),(26794,'NCBI Gene Summary',NULL,5955,NULL,'This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26795,'NCBI Gene PubMed Count',NULL,5955,NULL,NULL,NULL,17,NULL,NULL,NULL),(26796,'NCBI Gene Summary',NULL,5956,NULL,'The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(26797,'NCBI Gene PubMed Count',NULL,5956,NULL,NULL,NULL,91,NULL,NULL,NULL),(26798,'NCBI Gene Summary',NULL,5957,NULL,'This gene encodes a member of the peptidase S1 protein family. The encoded protein is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(26799,'NCBI Gene PubMed Count',NULL,5957,NULL,NULL,NULL,25,NULL,NULL,NULL),(26800,'NCBI Gene PubMed Count',NULL,5958,NULL,NULL,NULL,31,NULL,NULL,NULL),(26801,'NCBI Gene Summary',NULL,5959,NULL,'This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(26802,'NCBI Gene PubMed Count',NULL,5959,NULL,NULL,NULL,8,NULL,NULL,NULL),(26803,'NCBI Gene PubMed Count',NULL,5960,NULL,NULL,NULL,20,NULL,NULL,NULL),(26804,'NCBI Gene PubMed Count',NULL,5961,NULL,NULL,NULL,18,NULL,NULL,NULL),(26805,'NCBI Gene PubMed Count',NULL,5962,NULL,NULL,NULL,10,NULL,NULL,NULL),(26806,'NCBI Gene PubMed Count',NULL,5963,NULL,NULL,NULL,12,NULL,NULL,NULL),(26807,'NCBI Gene Summary',NULL,5964,NULL,'This gene encodes a nuclear protein with similarities to the high mobility group proteins, HMG14 and HMG17, which suggests that this protein may function as a nucleosomal binding and transcriptional activating protein. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(26808,'NCBI Gene PubMed Count',NULL,5964,NULL,NULL,NULL,32,NULL,NULL,NULL),(26809,'NCBI Gene Summary',NULL,5965,NULL,'High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(26810,'NCBI Gene PubMed Count',NULL,5965,NULL,NULL,NULL,13,NULL,NULL,NULL),(26811,'NCBI Gene Summary',NULL,5966,NULL,'MAIT (mucosal-associated invariant T-cells) lymphocytes represent a small population of T-cells primarily found in the gut. The protein encoded by this gene is an antigen-presenting molecule that presents metabolites of microbial vitamin B to MAITs. This presentation may activate the MAITs to regulate the amounts of specific types of bacteria in the gut. Several transcript variants encoding different isoforms have been found for this gene, and a pseudogene of it has been detected about 36 kbp upstream on the same chromosome. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(26812,'NCBI Gene PubMed Count',NULL,5966,NULL,NULL,NULL,34,NULL,NULL,NULL),(26813,'NCBI Gene PubMed Count',NULL,5967,NULL,NULL,NULL,32,NULL,NULL,NULL),(26814,'NCBI Gene PubMed Count',NULL,5968,NULL,NULL,NULL,6,NULL,NULL,NULL),(26815,'NCBI Gene Summary',NULL,5969,NULL,'In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26816,'NCBI Gene PubMed Count',NULL,5969,NULL,NULL,NULL,68,NULL,NULL,NULL),(26817,'NCBI Gene PubMed Count',NULL,5970,NULL,NULL,NULL,2,NULL,NULL,NULL),(26818,'NCBI Gene PubMed Count',NULL,5971,NULL,NULL,NULL,2,NULL,NULL,NULL),(26819,'NCBI Gene Summary',NULL,5972,NULL,'Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26820,'NCBI Gene PubMed Count',NULL,5972,NULL,NULL,NULL,71,NULL,NULL,NULL),(26821,'NCBI Gene PubMed Count',NULL,5973,NULL,NULL,NULL,11,NULL,NULL,NULL),(26822,'NCBI Gene Summary',NULL,5974,NULL,'This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn\'s disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson\'s disease, and a reduced incidence of Plasmodium falciparum malaria. The protein encoded also exhibits antimicrobial activity against bacteria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(26823,'NCBI Gene PubMed Count',NULL,5974,NULL,NULL,NULL,346,NULL,NULL,NULL),(26824,'NCBI Gene Summary',NULL,5975,NULL,'Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(26825,'NCBI Gene PubMed Count',NULL,5975,NULL,NULL,NULL,307,NULL,NULL,NULL),(26826,'NCBI Gene Summary',NULL,5976,NULL,'Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(26827,'NCBI Gene PubMed Count',NULL,5976,NULL,NULL,NULL,14,NULL,NULL,NULL),(26828,'NCBI Gene Summary',NULL,5977,NULL,'The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes.  Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response.  During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts  with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26829,'NCBI Gene PubMed Count',NULL,5977,NULL,NULL,NULL,16,NULL,NULL,NULL),(26830,'NCBI Gene PubMed Count',NULL,5978,NULL,NULL,NULL,3,NULL,NULL,NULL),(26831,'NCBI Gene PubMed Count',NULL,5979,NULL,NULL,NULL,51,NULL,NULL,NULL),(26832,'NCBI Gene PubMed Count',NULL,5980,NULL,NULL,NULL,9,NULL,NULL,NULL),(26833,'NCBI Gene Summary',NULL,5981,NULL,'This gene encodes a protein that localizes to the mitochondria and can function as a 3-hydroxyacyl thioester dehydratase. This gene is located just downstream of the gene for ribonuclease P/MRP subunit p14 (RPP14) in a genomic context that is conserved among animals. The upstream RPP14 gene is thought to be co-transcribed with this gene, and bicistronic transcripts may include open reading frames for both proteins. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(26834,'NCBI Gene PubMed Count',NULL,5981,NULL,NULL,NULL,6,NULL,NULL,NULL),(26835,'NCBI Gene Summary',NULL,5982,NULL,'Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(26836,'NCBI Gene PubMed Count',NULL,5982,NULL,NULL,NULL,12,NULL,NULL,NULL),(26837,'NCBI Gene PubMed Count',NULL,5983,NULL,NULL,NULL,3,NULL,NULL,NULL),(26838,'NCBI Gene Summary',NULL,5984,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26839,'NCBI Gene PubMed Count',NULL,5984,NULL,NULL,NULL,7,NULL,NULL,NULL),(26840,'NCBI Gene PubMed Count',NULL,5985,NULL,NULL,NULL,5,NULL,NULL,NULL),(26841,'NCBI Gene Summary',NULL,5986,NULL,'This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26842,'NCBI Gene PubMed Count',NULL,5986,NULL,NULL,NULL,20,NULL,NULL,NULL),(26843,'NCBI Gene Summary',NULL,5987,NULL,'This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. However, this protein has not yet been shown to have hyaluronidase activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26844,'NCBI Gene PubMed Count',NULL,5987,NULL,NULL,NULL,8,NULL,NULL,NULL),(26845,'NCBI Gene PubMed Count',NULL,5988,NULL,NULL,NULL,3,NULL,NULL,NULL),(26846,'NCBI Gene Summary',NULL,5989,NULL,'Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26847,'NCBI Gene PubMed Count',NULL,5989,NULL,NULL,NULL,23,NULL,NULL,NULL),(26848,'NCBI Gene PubMed Count',NULL,5990,NULL,NULL,NULL,14,NULL,NULL,NULL),(26849,'NCBI Gene Summary',NULL,5991,NULL,'The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(26850,'NCBI Gene PubMed Count',NULL,5991,NULL,NULL,NULL,11,NULL,NULL,NULL),(26851,'NCBI Gene PubMed Count',NULL,5992,NULL,NULL,NULL,4,NULL,NULL,NULL),(26852,'NCBI Gene Summary',NULL,5993,NULL,'Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. This GST family member is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26853,'NCBI Gene PubMed Count',NULL,5993,NULL,NULL,NULL,1464,NULL,NULL,NULL),(26854,'NCBI Gene Summary',NULL,5994,NULL,'This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(26855,'NCBI Gene PubMed Count',NULL,5994,NULL,NULL,NULL,15,NULL,NULL,NULL),(26856,'NCBI Gene Summary',NULL,5995,NULL,'This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(26857,'NCBI Gene PubMed Count',NULL,5995,NULL,NULL,NULL,20,NULL,NULL,NULL),(26858,'NCBI Gene Summary',NULL,5996,NULL,'Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26859,'NCBI Gene PubMed Count',NULL,5996,NULL,NULL,NULL,147,NULL,NULL,NULL),(26860,'NCBI Gene Summary',NULL,5997,NULL,'This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(26861,'NCBI Gene PubMed Count',NULL,5997,NULL,NULL,NULL,60,NULL,NULL,NULL),(26862,'NCBI Gene Summary',NULL,5998,NULL,'This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(26863,'NCBI Gene PubMed Count',NULL,5998,NULL,NULL,NULL,52,NULL,NULL,NULL),(26864,'NCBI Gene Summary',NULL,5999,NULL,'Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26865,'NCBI Gene PubMed Count',NULL,5999,NULL,NULL,NULL,25,NULL,NULL,NULL),(26866,'NCBI Gene Summary',NULL,6000,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H1 family. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(26867,'NCBI Gene PubMed Count',NULL,6000,NULL,NULL,NULL,18,NULL,NULL,NULL),(26868,'NCBI Gene Summary',NULL,6001,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most centromeric copy which is in intron 22 of the F8 gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(26869,'NCBI Gene PubMed Count',NULL,6001,NULL,NULL,NULL,9,NULL,NULL,NULL),(26870,'NCBI Gene Summary',NULL,6002,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(26871,'NCBI Gene PubMed Count',NULL,6002,NULL,NULL,NULL,26,NULL,NULL,NULL),(26872,'NCBI Gene Summary',NULL,6003,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded by this gene is a replication-independent histone that is a member of the histone H3 family. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(26873,'NCBI Gene PubMed Count',NULL,6003,NULL,NULL,NULL,10,NULL,NULL,NULL),(26874,'NCBI Gene Summary',NULL,6005,NULL,'This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(26875,'NCBI Gene PubMed Count',NULL,6005,NULL,NULL,NULL,7,NULL,NULL,NULL),(26876,'NCBI Gene Summary',NULL,6006,NULL,'The protein encoded by this gene is a type B histone acetyltransferase (HAT) that is involved in the rapid acetylation of newly synthesized cytoplasmic histones, which are in turn imported into the nucleus for de novo deposition onto nascent DNA chains. Histone acetylation, particularly of histone H4, plays an important role in replication-dependent chromatin assembly. Specifically, this HAT can acetylate soluble but not nucleosomal histone H4 at lysines 5 and 12, and to a lesser degree, histone H2A at lysine 5. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(26877,'NCBI Gene PubMed Count',NULL,6006,NULL,NULL,NULL,36,NULL,NULL,NULL),(26878,'NCBI Gene Summary',NULL,6007,NULL,'HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb \'augmentare,\' meaning \'to increase.\' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(26879,'NCBI Gene PubMed Count',NULL,6007,NULL,NULL,NULL,13,NULL,NULL,NULL),(26880,'NCBI Gene Summary',NULL,6008,NULL,'This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(26881,'NCBI Gene PubMed Count',NULL,6008,NULL,NULL,NULL,14,NULL,NULL,NULL),(26882,'NCBI Gene Summary',NULL,6009,NULL,'The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(26883,'NCBI Gene PubMed Count',NULL,6009,NULL,NULL,NULL,123,NULL,NULL,NULL),(26884,'NCBI Gene Summary',NULL,6010,NULL,'HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26885,'NCBI Gene PubMed Count',NULL,6010,NULL,NULL,NULL,11,NULL,NULL,NULL),(26886,'NCBI Gene Summary',NULL,6011,NULL,'This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26887,'NCBI Gene PubMed Count',NULL,6011,NULL,NULL,NULL,24,NULL,NULL,NULL),(26888,'NCBI Gene Summary',NULL,6012,NULL,'This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(26889,'NCBI Gene PubMed Count',NULL,6012,NULL,NULL,NULL,148,NULL,NULL,NULL),(26890,'NCBI Gene Summary',NULL,6013,NULL,'This gene encodes a transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(26891,'NCBI Gene PubMed Count',NULL,6013,NULL,NULL,NULL,21,NULL,NULL,NULL),(26892,'NCBI Gene PubMed Count',NULL,6014,NULL,NULL,NULL,16,NULL,NULL,NULL),(26893,'NCBI Gene Summary',NULL,6015,NULL,'Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26894,'NCBI Gene PubMed Count',NULL,6015,NULL,NULL,NULL,14,NULL,NULL,NULL),(26895,'NCBI Gene Summary',NULL,6016,NULL,'This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26896,'NCBI Gene PubMed Count',NULL,6016,NULL,NULL,NULL,41,NULL,NULL,NULL),(26897,'NCBI Gene Summary',NULL,6017,NULL,'This gene encodes an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporins. The protein mediates transport of the ATP form but not the ADP form of Hsp70 proteins under conditions of heat shock stress. Structural analyses demonstrate that the protein forms an asymmetric homodimer and that the N-terminal domain consists of a jelly-roll/beta-sandwich fold structure that contains hydrophobic pockets involved in FG-nucleoporin recognition. Reduction of RNA expression levels in HeLa cells using small interfering RNAs results in inhibition of heat shock-induced nuclear accumulation of Hsp70s, indicating a role for this gene in regulation of Hsp70 nuclear import during heat shock stress. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(26898,'NCBI Gene PubMed Count',NULL,6017,NULL,NULL,NULL,17,NULL,NULL,NULL),(26899,'NCBI Gene PubMed Count',NULL,6018,NULL,NULL,NULL,5,NULL,NULL,NULL),(26900,'NCBI Gene PubMed Count',NULL,6019,NULL,NULL,NULL,11,NULL,NULL,NULL),(26901,'NCBI Gene Summary',NULL,6020,NULL,'This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(26902,'NCBI Gene PubMed Count',NULL,6020,NULL,NULL,NULL,908,NULL,NULL,NULL),(26903,'NCBI Gene Summary',NULL,6021,NULL,'This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26904,'NCBI Gene PubMed Count',NULL,6021,NULL,NULL,NULL,17,NULL,NULL,NULL),(26905,'NCBI Gene Summary',NULL,6022,NULL,'Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene encodes one of the histamine receptors (H3) which belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26906,'NCBI Gene PubMed Count',NULL,6022,NULL,NULL,NULL,52,NULL,NULL,NULL),(26907,'NCBI Gene Summary',NULL,6023,NULL,'The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(26908,'NCBI Gene PubMed Count',NULL,6023,NULL,NULL,NULL,97,NULL,NULL,NULL),(26909,'NCBI Gene Summary',NULL,6024,NULL,'The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the protein encoded by this gene binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(26910,'NCBI Gene PubMed Count',NULL,6024,NULL,NULL,NULL,14,NULL,NULL,NULL),(26911,'NCBI Gene Summary',NULL,6025,NULL,'HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(26912,'NCBI Gene PubMed Count',NULL,6025,NULL,NULL,NULL,168,NULL,NULL,NULL),(26913,'NCBI Gene PubMed Count',NULL,6026,NULL,NULL,NULL,30,NULL,NULL,NULL),(26914,'NCBI Gene Summary',NULL,6027,NULL,'The protein encoded by this gene, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(26915,'NCBI Gene PubMed Count',NULL,6027,NULL,NULL,NULL,9,NULL,NULL,NULL),(26916,'NCBI Gene Summary',NULL,6028,NULL,'This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen (HLA)-identical allogeneic bone marrow transplantation (BMT). This gene is only expressed in B cell acute lymphoblastic leukemia cells and Epstein-Barr virus-transformed B cells. The translation of this mRNA initiates at a non-AUG (CUG) codon. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26917,'NCBI Gene PubMed Count',NULL,6028,NULL,NULL,NULL,7,NULL,NULL,NULL),(26918,'NCBI Gene PubMed Count',NULL,6029,NULL,NULL,NULL,11,NULL,NULL,NULL),(26919,'NCBI Gene Summary',NULL,6030,NULL,'This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(26920,'NCBI Gene PubMed Count',NULL,6030,NULL,NULL,NULL,242,NULL,NULL,NULL),(26921,'NCBI Gene Summary',NULL,6031,NULL,'Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(26922,'NCBI Gene PubMed Count',NULL,6031,NULL,NULL,NULL,20,NULL,NULL,NULL),(26923,'NCBI Gene PubMed Count',NULL,6032,NULL,NULL,NULL,14,NULL,NULL,NULL),(26924,'NCBI Gene PubMed Count',NULL,6033,NULL,NULL,NULL,4,NULL,NULL,NULL),(26925,'NCBI Gene Summary',NULL,6034,NULL,'The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(26926,'NCBI Gene PubMed Count',NULL,6034,NULL,NULL,NULL,156,NULL,NULL,NULL),(26927,'NCBI Gene Summary',NULL,6035,NULL,'This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(26928,'NCBI Gene PubMed Count',NULL,6035,NULL,NULL,NULL,69,NULL,NULL,NULL),(26929,'NCBI Gene Summary',NULL,6036,NULL,'This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(26930,'NCBI Gene PubMed Count',NULL,6036,NULL,NULL,NULL,18,NULL,NULL,NULL),(26931,'NCBI Gene Summary',NULL,6037,NULL,'This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26932,'NCBI Gene PubMed Count',NULL,6037,NULL,NULL,NULL,35,NULL,NULL,NULL),(26933,'NCBI Gene Summary',NULL,6038,NULL,'This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26934,'NCBI Gene PubMed Count',NULL,6038,NULL,NULL,NULL,30,NULL,NULL,NULL),(26935,'NCBI Gene Summary',NULL,6039,NULL,'Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. Several alternatively spliced transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(26936,'NCBI Gene PubMed Count',NULL,6039,NULL,NULL,NULL,66,NULL,NULL,NULL),(26937,'NCBI Gene Summary',NULL,6040,NULL,'The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMGN1, the encoded protein may help maintain an open chromatin configuration around transcribable genes. The protein has also been found to have antimicrobial activity against bacteria, viruses and fungi. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(26938,'NCBI Gene PubMed Count',NULL,6040,NULL,NULL,NULL,40,NULL,NULL,NULL),(26939,'NCBI Gene PubMed Count',NULL,6041,NULL,NULL,NULL,10,NULL,NULL,NULL),(26940,'NCBI Gene Summary',NULL,6042,NULL,'This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus early-1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by early-1B-55kDa in adenovirus-infected cells. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(26941,'NCBI Gene PubMed Count',NULL,6042,NULL,NULL,NULL,41,NULL,NULL,NULL),(26942,'NCBI Gene Summary',NULL,6043,NULL,'The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(26943,'NCBI Gene PubMed Count',NULL,6043,NULL,NULL,NULL,19,NULL,NULL,NULL),(26944,'NCBI Gene Summary',NULL,6044,NULL,'This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles.  These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26945,'NCBI Gene PubMed Count',NULL,6044,NULL,NULL,NULL,69,NULL,NULL,NULL),(26946,'NCBI Gene PubMed Count',NULL,6045,NULL,NULL,NULL,4,NULL,NULL,NULL),(26947,'NCBI Gene Summary',NULL,6046,NULL,'The protein encoded by this gene is a homeodomain protein that lacks certain conserved residues required for DNA binding. It was reported that choriocarcinoma cell lines and tissues failed to express this gene, which suggested the possible involvement of this gene in malignant conversion of placental trophoblasts. Studies in mice suggest that this protein may interact with serum response factor (SRF) and modulate SRF-dependent cardiac-specific gene expression and cardiac development. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(26948,'NCBI Gene PubMed Count',NULL,6046,NULL,NULL,NULL,49,NULL,NULL,NULL),(26949,'NCBI Gene Summary',NULL,6047,NULL,'This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26950,'NCBI Gene PubMed Count',NULL,6047,NULL,NULL,NULL,24,NULL,NULL,NULL),(26951,'NCBI Gene PubMed Count',NULL,6049,NULL,NULL,NULL,17,NULL,NULL,NULL),(26952,'NCBI Gene Summary',NULL,6050,NULL,'This gene encodes a member of the homeodomain interacting protein kinase (HIPK) family of proteins. While other members of this family are found throughout vertebrates, this member is present only in mammals. Compared to other members of this family, the encoded protein lacks a nuclear localization signal and a C-terminal autoinhibitory domain. The encoded protein exhibits kinase activity and may phosphorylate the tumor suppressor protein p53. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(26953,'NCBI Gene PubMed Count',NULL,6050,NULL,NULL,NULL,9,NULL,NULL,NULL),(26954,'NCBI Gene Summary',NULL,6051,NULL,'This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(26955,'NCBI Gene PubMed Count',NULL,6051,NULL,NULL,NULL,25,NULL,NULL,NULL),(26956,'NCBI Gene Summary',NULL,6052,NULL,'Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(26957,'NCBI Gene PubMed Count',NULL,6052,NULL,NULL,NULL,9,NULL,NULL,NULL),(26958,'NCBI Gene PubMed Count',NULL,6053,NULL,NULL,NULL,91,NULL,NULL,NULL),(26959,'NCBI Gene Summary',NULL,6054,NULL,'This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(26960,'NCBI Gene PubMed Count',NULL,6054,NULL,NULL,NULL,42,NULL,NULL,NULL),(26961,'NCBI Gene PubMed Count',NULL,6055,NULL,NULL,NULL,17,NULL,NULL,NULL),(26962,'NCBI Gene Summary',NULL,6056,NULL,'This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. This gene displays extensive variation. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(26963,'NCBI Gene PubMed Count',NULL,6056,NULL,NULL,NULL,15,NULL,NULL,NULL),(26964,'NCBI Gene Summary',NULL,6057,NULL,'The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(26965,'NCBI Gene PubMed Count',NULL,6057,NULL,NULL,NULL,7,NULL,NULL,NULL),(26966,'NCBI Gene Summary',NULL,6058,NULL,'The protein encoded by this gene binds thyroid hormone receptor beta in the presence of thyroid hormone. The encoded protein, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. There is a related pseudogene on chromosome 1. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(26967,'NCBI Gene PubMed Count',NULL,6058,NULL,NULL,NULL,14,NULL,NULL,NULL),(26968,'NCBI Gene Summary',NULL,6059,NULL,'This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26969,'NCBI Gene PubMed Count',NULL,6059,NULL,NULL,NULL,29,NULL,NULL,NULL),(26970,'NCBI Gene Summary',NULL,6060,NULL,'This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(26971,'NCBI Gene PubMed Count',NULL,6060,NULL,NULL,NULL,18,NULL,NULL,NULL),(26972,'NCBI Gene Summary',NULL,6061,NULL,'This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(26973,'NCBI Gene PubMed Count',NULL,6061,NULL,NULL,NULL,27,NULL,NULL,NULL),(26974,'NCBI Gene PubMed Count',NULL,6062,NULL,NULL,NULL,4,NULL,NULL,NULL),(26975,'NCBI Gene PubMed Count',NULL,6063,NULL,NULL,NULL,10,NULL,NULL,NULL),(26976,'NCBI Gene PubMed Count',NULL,6064,NULL,NULL,NULL,10,NULL,NULL,NULL),(26977,'NCBI Gene Summary',NULL,6065,NULL,'Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(26978,'NCBI Gene PubMed Count',NULL,6065,NULL,NULL,NULL,17,NULL,NULL,NULL),(26979,'NCBI Gene PubMed Count',NULL,6066,NULL,NULL,NULL,18,NULL,NULL,NULL),(26980,'NCBI Gene Summary',NULL,6067,NULL,'This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are nucleic acid binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26981,'NCBI Gene PubMed Count',NULL,6067,NULL,NULL,NULL,131,NULL,NULL,NULL),(26982,'NCBI Gene PubMed Count',NULL,6068,NULL,NULL,NULL,13,NULL,NULL,NULL),(26983,'NCBI Gene Summary',NULL,6069,NULL,'Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26984,'NCBI Gene PubMed Count',NULL,6069,NULL,NULL,NULL,952,NULL,NULL,NULL),(26985,'NCBI Gene Summary',NULL,6070,NULL,'This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26986,'NCBI Gene PubMed Count',NULL,6070,NULL,NULL,NULL,9,NULL,NULL,NULL),(26987,'NCBI Gene PubMed Count',NULL,6071,NULL,NULL,NULL,9,NULL,NULL,NULL),(26988,'NCBI Gene Summary',NULL,6072,NULL,'This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(26989,'NCBI Gene PubMed Count',NULL,6072,NULL,NULL,NULL,27,NULL,NULL,NULL),(26990,'NCBI Gene Summary',NULL,6073,NULL,'This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26991,'NCBI Gene PubMed Count',NULL,6073,NULL,NULL,NULL,192,NULL,NULL,NULL),(26992,'NCBI Gene Summary',NULL,6074,NULL,'This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(26993,'NCBI Gene PubMed Count',NULL,6074,NULL,NULL,NULL,10,NULL,NULL,NULL),(26994,'NCBI Gene Summary',NULL,6075,NULL,'Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(26995,'NCBI Gene PubMed Count',NULL,6075,NULL,NULL,NULL,18,NULL,NULL,NULL),(26996,'NCBI Gene PubMed Count',NULL,6076,NULL,NULL,NULL,4,NULL,NULL,NULL),(26997,'NCBI Gene Summary',NULL,6077,NULL,'The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(26998,'NCBI Gene PubMed Count',NULL,6077,NULL,NULL,NULL,51,NULL,NULL,NULL),(26999,'NCBI Gene Summary',NULL,6078,NULL,'This gene encodes a member of the heat shock protein 90 family; these proteins are involved in signal transduction, protein folding and degradation and morphological evolution. This gene encodes the constitutive form of the cytosolic 90 kDa heat-shock protein and is thought to play a role in gastric apoptosis and inflammation. Alternative splicing results in multiple transcript variants. Pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(27000,'NCBI Gene PubMed Count',NULL,6078,NULL,NULL,NULL,175,NULL,NULL,NULL),(27001,'NCBI Gene PubMed Count',NULL,6079,NULL,NULL,NULL,7,NULL,NULL,NULL),(27002,'NCBI Gene Summary',NULL,6080,NULL,'This gene encodes a member of the heat shock protein 70 family, which contains both heat-inducible and constitutively expressed members. This protein belongs to the latter group, which are also referred to as heat-shock cognate proteins. It functions as a chaperone, and binds to nascent polypeptides to facilitate correct folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(27003,'NCBI Gene PubMed Count',NULL,6080,NULL,NULL,NULL,285,NULL,NULL,NULL),(27004,'NCBI Gene Summary',NULL,6081,NULL,'The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The protein is expressed preferentially in the heart and skeletal muscle. This protein regulates Myotonic Dystrophy Protein Kinase, which plays an important role in maintenance of muscle structure and function. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(27005,'NCBI Gene PubMed Count',NULL,6081,NULL,NULL,NULL,71,NULL,NULL,NULL),(27006,'NCBI Gene Summary',NULL,6082,NULL,'This gene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this gene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this gene being associated with renal cell carcinoma. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(27007,'NCBI Gene PubMed Count',NULL,6082,NULL,NULL,NULL,23,NULL,NULL,NULL),(27008,'NCBI Gene PubMed Count',NULL,6083,NULL,NULL,NULL,18,NULL,NULL,NULL),(27009,'NCBI Gene Summary',NULL,6084,NULL,'The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27010,'NCBI Gene PubMed Count',NULL,6084,NULL,NULL,NULL,61,NULL,NULL,NULL),(27011,'NCBI Gene PubMed Count',NULL,6085,NULL,NULL,NULL,10,NULL,NULL,NULL),(27012,'NCBI Gene Summary',NULL,6086,NULL,'The protein encoded by this gene functions as a cofactor for the stimulation of transcriptional elongation by HIV-1 Tat, which binds to the HIV-1 promoter through Tat-TAR interaction. This protein may also serve as a dual-function factor to couple transcription and splicing and to facilitate their reciprocal activation. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(27013,'NCBI Gene PubMed Count',NULL,6086,NULL,NULL,NULL,30,NULL,NULL,NULL),(27014,'NCBI Gene Summary',NULL,6087,NULL,'In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27015,'NCBI Gene PubMed Count',NULL,6087,NULL,NULL,NULL,27,NULL,NULL,NULL),(27016,'NCBI Gene Summary',NULL,6088,NULL,'Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the \'engrailed\' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27017,'NCBI Gene PubMed Count',NULL,6088,NULL,NULL,NULL,36,NULL,NULL,NULL),(27018,'NCBI Gene Summary',NULL,6089,NULL,'This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5\'-CAAG-3\' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(27019,'NCBI Gene PubMed Count',NULL,6089,NULL,NULL,NULL,10,NULL,NULL,NULL),(27020,'NCBI Gene PubMed Count',NULL,6090,NULL,NULL,NULL,8,NULL,NULL,NULL),(27021,'NCBI Gene PubMed Count',NULL,6091,NULL,NULL,NULL,10,NULL,NULL,NULL),(27022,'NCBI Gene PubMed Count',NULL,6092,NULL,NULL,NULL,10,NULL,NULL,NULL),(27023,'NCBI Gene Summary',NULL,6093,NULL,'This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27024,'NCBI Gene PubMed Count',NULL,6093,NULL,NULL,NULL,51,NULL,NULL,NULL),(27025,'NCBI Gene Summary',NULL,6094,NULL,'Prostaglandin-D synthase is a sigma class glutathione-S-transferase family member. The enzyme catalyzes the conversion of PGH2 to PGD2 and plays a role in the production of prostanoids in the immune system and mast cells. The presence of this enzyme can be used to identify the differentiation stage of human megakaryocytes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27026,'NCBI Gene PubMed Count',NULL,6094,NULL,NULL,NULL,32,NULL,NULL,NULL),(27027,'NCBI Gene PubMed Count',NULL,6095,NULL,NULL,NULL,10,NULL,NULL,NULL),(27028,'NCBI Gene PubMed Count',NULL,6096,NULL,NULL,NULL,5,NULL,NULL,NULL),(27029,'NCBI Gene Summary',NULL,6097,NULL,'Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. Histamine receptor H2 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and stimulates gastric acid secretion. It also regulates gastrointestinal motility and intestinal secretion and is thought to be involved in regulating cell growth and differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(27030,'NCBI Gene PubMed Count',NULL,6097,NULL,NULL,NULL,69,NULL,NULL,NULL),(27031,'NCBI Gene Summary',NULL,6098,NULL,'This gene encodes a member of the heat shock protein 70 family of proteins. The encoded protein functions as a nucleotide exchange factor for the molecular chaperone heat shock cognate 71 kDa protein (Hsc70). In addition, this protein plays a distinct but related role as a holdase that inhibits the aggregation of misfolded proteins, including the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Elevated expression of this protein has been observed in numerous human cancers. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(27032,'NCBI Gene PubMed Count',NULL,6098,NULL,NULL,NULL,52,NULL,NULL,NULL),(27033,'NCBI Gene Summary',NULL,6099,NULL,'This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(27034,'NCBI Gene PubMed Count',NULL,6099,NULL,NULL,NULL,35,NULL,NULL,NULL),(27035,'NCBI Gene PubMed Count',NULL,6100,NULL,NULL,NULL,8,NULL,NULL,NULL),(27036,'NCBI Gene Summary',NULL,6101,NULL,'HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27037,'NCBI Gene PubMed Count',NULL,6101,NULL,NULL,NULL,9,NULL,NULL,NULL),(27038,'NCBI Gene Summary',NULL,6102,NULL,'T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27039,'NCBI Gene PubMed Count',NULL,6102,NULL,NULL,NULL,18,NULL,NULL,NULL),(27040,'NCBI Gene Summary',NULL,6103,NULL,'This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(27041,'NCBI Gene PubMed Count',NULL,6103,NULL,NULL,NULL,29,NULL,NULL,NULL),(27042,'NCBI Gene PubMed Count',NULL,6104,NULL,NULL,NULL,11,NULL,NULL,NULL),(27043,'NCBI Gene Summary',NULL,6105,NULL,'This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(27044,'NCBI Gene PubMed Count',NULL,6105,NULL,NULL,NULL,57,NULL,NULL,NULL),(27045,'NCBI Gene Summary',NULL,6106,NULL,'This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27046,'NCBI Gene PubMed Count',NULL,6106,NULL,NULL,NULL,60,NULL,NULL,NULL),(27047,'NCBI Gene Summary',NULL,6107,NULL,'The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27048,'NCBI Gene PubMed Count',NULL,6107,NULL,NULL,NULL,915,NULL,NULL,NULL),(27049,'NCBI Gene PubMed Count',NULL,6108,NULL,NULL,NULL,4,NULL,NULL,NULL),(27050,'NCBI Gene Summary',NULL,6109,NULL,'This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(27051,'NCBI Gene PubMed Count',NULL,6109,NULL,NULL,NULL,17,NULL,NULL,NULL),(27052,'NCBI Gene PubMed Count',NULL,6110,NULL,NULL,NULL,7,NULL,NULL,NULL),(27053,'NCBI Gene Summary',NULL,6111,NULL,'This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(27054,'NCBI Gene PubMed Count',NULL,6111,NULL,NULL,NULL,2779,NULL,NULL,NULL),(27055,'NCBI Gene Summary',NULL,6112,NULL,'This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(27056,'NCBI Gene PubMed Count',NULL,6112,NULL,NULL,NULL,19,NULL,NULL,NULL),(27057,'NCBI Gene Summary',NULL,6113,NULL,'The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27058,'NCBI Gene PubMed Count',NULL,6113,NULL,NULL,NULL,87,NULL,NULL,NULL),(27059,'NCBI Gene Summary',NULL,6114,NULL,'The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order:      5\'-epsilon--Ggamma--Agamma--delta--beta-3\'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27060,'NCBI Gene PubMed Count',NULL,6114,NULL,NULL,NULL,124,NULL,NULL,NULL),(27061,'NCBI Gene Summary',NULL,6115,NULL,'The protein encoded by this gene is a cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetramer. High levels of this protein have been used as a biomarker for diagnosing and categorizing many types of cancers. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(27062,'NCBI Gene PubMed Count',NULL,6115,NULL,NULL,NULL,88,NULL,NULL,NULL),(27063,'NCBI Gene PubMed Count',NULL,6116,NULL,NULL,NULL,42,NULL,NULL,NULL),(27064,'NCBI Gene Summary',NULL,6117,NULL,'This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(27065,'NCBI Gene PubMed Count',NULL,6117,NULL,NULL,NULL,16,NULL,NULL,NULL),(27066,'NCBI Gene PubMed Count',NULL,6118,NULL,NULL,NULL,8,NULL,NULL,NULL),(27067,'NCBI Gene Summary',NULL,6119,NULL,'This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27068,'NCBI Gene PubMed Count',NULL,6119,NULL,NULL,NULL,13,NULL,NULL,NULL),(27069,'NCBI Gene PubMed Count',NULL,6120,NULL,NULL,NULL,8,NULL,NULL,NULL),(27070,'NCBI Gene PubMed Count',NULL,6121,NULL,NULL,NULL,5,NULL,NULL,NULL),(27071,'NCBI Gene PubMed Count',NULL,6122,NULL,NULL,NULL,6,NULL,NULL,NULL),(27072,'NCBI Gene Summary',NULL,6123,NULL,'This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. High levels of expression of this gene enhance the growth of many tumors. This gene was thought initially to be located on chromosome X; however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(27073,'NCBI Gene PubMed Count',NULL,6123,NULL,NULL,NULL,79,NULL,NULL,NULL),(27074,'NCBI Gene PubMed Count',NULL,6124,NULL,NULL,NULL,25,NULL,NULL,NULL),(27075,'NCBI Gene Summary',NULL,6125,NULL,'This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(27076,'NCBI Gene PubMed Count',NULL,6125,NULL,NULL,NULL,97,NULL,NULL,NULL),(27077,'NCBI Gene Summary',NULL,6126,NULL,'The protein encoded by this gene is found predominately in the cytoplasm, where it plays a role in the collapse of mitochondrial membrane potential (MMP) prior to necrotic cell death. The encoded protein enhances outer and inner mitochondrial membrane permeabilization, especially under conditions of oxidative stress. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(27078,'NCBI Gene PubMed Count',NULL,6126,NULL,NULL,NULL,17,NULL,NULL,NULL),(27079,'NCBI Gene PubMed Count',NULL,6127,NULL,NULL,NULL,3,NULL,NULL,NULL),(27080,'NCBI Gene Summary',NULL,6128,NULL,'This gene encodes a protein which is a member of the Sp/KLF family of transcription factors. Members of this family contain a C-terminal DNA-binding domain with three Kruppel-like zinc fingers. The encoded protein is thought to play an important role in the regulation of epithelial to mesenchymal transition, a process which occurs normally during development but also during metastasis. A pseudogene has been identified on chromosome 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(27081,'NCBI Gene PubMed Count',NULL,6128,NULL,NULL,NULL,49,NULL,NULL,NULL),(27082,'NCBI Gene PubMed Count',NULL,6129,NULL,NULL,NULL,14,NULL,NULL,NULL),(27083,'NCBI Gene Summary',NULL,6130,NULL,'The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. Binding of the encoded protein to a single GC box inhibits mRNA expression while binding to tandemly repeated GC box elements activates transcription. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27084,'NCBI Gene PubMed Count',NULL,6130,NULL,NULL,NULL,55,NULL,NULL,NULL),(27085,'NCBI Gene Summary',NULL,6131,NULL,'The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27086,'NCBI Gene PubMed Count',NULL,6131,NULL,NULL,NULL,16,NULL,NULL,NULL),(27087,'NCBI Gene Summary',NULL,6132,NULL,'This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(27088,'NCBI Gene PubMed Count',NULL,6132,NULL,NULL,NULL,9,NULL,NULL,NULL),(27089,'NCBI Gene Summary',NULL,6133,NULL,'HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27090,'NCBI Gene PubMed Count',NULL,6133,NULL,NULL,NULL,22,NULL,NULL,NULL),(27091,'NCBI Gene PubMed Count',NULL,6134,NULL,NULL,NULL,11,NULL,NULL,NULL),(27092,'NCBI Gene PubMed Count',NULL,6135,NULL,NULL,NULL,14,NULL,NULL,NULL),(27093,'NCBI Gene Summary',NULL,6136,NULL,'Expression of this gene is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells. This gene has no introns. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27094,'NCBI Gene PubMed Count',NULL,6136,NULL,NULL,NULL,66,NULL,NULL,NULL),(27095,'NCBI Gene Summary',NULL,6137,NULL,'This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27096,'NCBI Gene PubMed Count',NULL,6137,NULL,NULL,NULL,28,NULL,NULL,NULL),(27097,'NCBI Gene PubMed Count',NULL,6138,NULL,NULL,NULL,7,NULL,NULL,NULL),(27098,'NCBI Gene PubMed Count',NULL,6139,NULL,NULL,NULL,21,NULL,NULL,NULL),(27099,'NCBI Gene PubMed Count',NULL,6140,NULL,NULL,NULL,16,NULL,NULL,NULL),(27100,'NCBI Gene PubMed Count',NULL,6141,NULL,NULL,NULL,42,NULL,NULL,NULL),(27101,'NCBI Gene Summary',NULL,6142,NULL,'This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(27102,'NCBI Gene PubMed Count',NULL,6142,NULL,NULL,NULL,71,NULL,NULL,NULL),(27103,'NCBI Gene Summary',NULL,6143,NULL,'The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(27104,'NCBI Gene PubMed Count',NULL,6143,NULL,NULL,NULL,10,NULL,NULL,NULL),(27105,'NCBI Gene Summary',NULL,6144,NULL,'The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(27106,'NCBI Gene PubMed Count',NULL,6144,NULL,NULL,NULL,57,NULL,NULL,NULL),(27107,'NCBI Gene PubMed Count',NULL,6145,NULL,NULL,NULL,15,NULL,NULL,NULL),(27108,'NCBI Gene PubMed Count',NULL,6146,NULL,NULL,NULL,7,NULL,NULL,NULL),(27109,'NCBI Gene Summary',NULL,6147,NULL,'This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(27110,'NCBI Gene PubMed Count',NULL,6147,NULL,NULL,NULL,50,NULL,NULL,NULL),(27111,'NCBI Gene PubMed Count',NULL,6148,NULL,NULL,NULL,7,NULL,NULL,NULL),(27112,'NCBI Gene PubMed Count',NULL,6149,NULL,NULL,NULL,8,NULL,NULL,NULL),(27113,'NCBI Gene PubMed Count',NULL,6150,NULL,NULL,NULL,5,NULL,NULL,NULL),(27114,'NCBI Gene Summary',NULL,6151,NULL,'Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27115,'NCBI Gene PubMed Count',NULL,6151,NULL,NULL,NULL,192,NULL,NULL,NULL),(27116,'NCBI Gene Summary',NULL,6152,NULL,'This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(27117,'NCBI Gene PubMed Count',NULL,6152,NULL,NULL,NULL,156,NULL,NULL,NULL),(27118,'NCBI Gene Summary',NULL,6153,NULL,'The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(27119,'NCBI Gene PubMed Count',NULL,6153,NULL,NULL,NULL,20,NULL,NULL,NULL),(27120,'NCBI Gene Summary',NULL,6154,NULL,'The protein encoded by this gene transfers ubiquitin from an E2 ubiquitin-conjugating enzyme to targeted substrates, leading to the degradation of those substrates. The encoded protein has been shown to transfer ubiquitin to TRIOBP to facilitate cell cycle progression, and to STX8. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(27121,'NCBI Gene PubMed Count',NULL,6154,NULL,NULL,NULL,11,NULL,NULL,NULL),(27122,'NCBI Gene PubMed Count',NULL,6155,NULL,NULL,NULL,18,NULL,NULL,NULL),(27123,'NCBI Gene Summary',NULL,6156,NULL,'This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(27124,'NCBI Gene PubMed Count',NULL,6156,NULL,NULL,NULL,426,NULL,NULL,NULL),(27125,'NCBI Gene Summary',NULL,6157,NULL,'This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27126,'NCBI Gene PubMed Count',NULL,6157,NULL,NULL,NULL,48,NULL,NULL,NULL),(27127,'NCBI Gene Summary',NULL,6158,NULL,'This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27128,'NCBI Gene PubMed Count',NULL,6158,NULL,NULL,NULL,65,NULL,NULL,NULL),(27129,'NCBI Gene Summary',NULL,6159,NULL,'The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(27130,'NCBI Gene PubMed Count',NULL,6159,NULL,NULL,NULL,106,NULL,NULL,NULL),(27131,'NCBI Gene Summary',NULL,6160,NULL,'The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(27132,'NCBI Gene PubMed Count',NULL,6160,NULL,NULL,NULL,73,NULL,NULL,NULL),(27133,'NCBI Gene Summary',NULL,6161,NULL,'This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(27134,'NCBI Gene PubMed Count',NULL,6161,NULL,NULL,NULL,20,NULL,NULL,NULL),(27135,'NCBI Gene Summary',NULL,6162,NULL,'This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(27136,'NCBI Gene PubMed Count',NULL,6162,NULL,NULL,NULL,10,NULL,NULL,NULL),(27137,'NCBI Gene Summary',NULL,6163,NULL,'The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(27138,'NCBI Gene PubMed Count',NULL,6163,NULL,NULL,NULL,24,NULL,NULL,NULL),(27139,'NCBI Gene Summary',NULL,6164,NULL,'Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5\' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3\'. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(27140,'NCBI Gene PubMed Count',NULL,6164,NULL,NULL,NULL,30,NULL,NULL,NULL),(27141,'NCBI Gene Summary',NULL,6165,NULL,'The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27142,'NCBI Gene PubMed Count',NULL,6165,NULL,NULL,NULL,39,NULL,NULL,NULL),(27143,'NCBI Gene Summary',NULL,6166,NULL,'Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27144,'NCBI Gene PubMed Count',NULL,6166,NULL,NULL,NULL,262,NULL,NULL,NULL),(27145,'NCBI Gene Summary',NULL,6167,NULL,'This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(27146,'NCBI Gene PubMed Count',NULL,6167,NULL,NULL,NULL,11,NULL,NULL,NULL),(27147,'NCBI Gene Summary',NULL,6168,NULL,'This gene encodes the homolog of the Drosophila headcase protein, a highly basic, cytoplasmic protein that regulates the re-entry of imaginal cells into the mitotic cycle during adult morphogenesis. In Drosophila, the encoded protein also inhibits terminal branching of neighboring cells during tracheal development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27148,'NCBI Gene PubMed Count',NULL,6168,NULL,NULL,NULL,10,NULL,NULL,NULL),(27149,'NCBI Gene Summary',NULL,6169,NULL,'Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27150,'NCBI Gene PubMed Count',NULL,6169,NULL,NULL,NULL,563,NULL,NULL,NULL),(27151,'NCBI Gene Summary',NULL,6170,NULL,'The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(27152,'NCBI Gene PubMed Count',NULL,6170,NULL,NULL,NULL,54,NULL,NULL,NULL),(27153,'NCBI Gene PubMed Count',NULL,6171,NULL,NULL,NULL,2,NULL,NULL,NULL),(27154,'NCBI Gene PubMed Count',NULL,6172,NULL,NULL,NULL,28,NULL,NULL,NULL),(27155,'NCBI Gene Summary',NULL,6173,NULL,'This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(27156,'NCBI Gene PubMed Count',NULL,6173,NULL,NULL,NULL,355,NULL,NULL,NULL),(27157,'NCBI Gene PubMed Count',NULL,6174,NULL,NULL,NULL,13,NULL,NULL,NULL),(27158,'NCBI Gene PubMed Count',NULL,6175,NULL,NULL,NULL,6,NULL,NULL,NULL),(27159,'NCBI Gene PubMed Count',NULL,6176,NULL,NULL,NULL,4,NULL,NULL,NULL),(27160,'NCBI Gene PubMed Count',NULL,6177,NULL,NULL,NULL,4,NULL,NULL,NULL),(27161,'NCBI Gene PubMed Count',NULL,6178,NULL,NULL,NULL,6,NULL,NULL,NULL),(27162,'NCBI Gene PubMed Count',NULL,6179,NULL,NULL,NULL,17,NULL,NULL,NULL),(27163,'NCBI Gene PubMed Count',NULL,6180,NULL,NULL,NULL,7,NULL,NULL,NULL),(27164,'NCBI Gene PubMed Count',NULL,6181,NULL,NULL,NULL,9,NULL,NULL,NULL),(27165,'NCBI Gene PubMed Count',NULL,6182,NULL,NULL,NULL,12,NULL,NULL,NULL),(27166,'NCBI Gene PubMed Count',NULL,6183,NULL,NULL,NULL,8,NULL,NULL,NULL),(27167,'NCBI Gene Summary',NULL,6184,NULL,'This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(27168,'NCBI Gene PubMed Count',NULL,6184,NULL,NULL,NULL,17,NULL,NULL,NULL),(27169,'NCBI Gene PubMed Count',NULL,6185,NULL,NULL,NULL,11,NULL,NULL,NULL),(27170,'NCBI Gene Summary',NULL,6186,NULL,'The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(27171,'NCBI Gene PubMed Count',NULL,6186,NULL,NULL,NULL,19,NULL,NULL,NULL),(27172,'NCBI Gene Summary',NULL,6187,NULL,'SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(27173,'NCBI Gene PubMed Count',NULL,6187,NULL,NULL,NULL,18,NULL,NULL,NULL),(27174,'NCBI Gene Summary',NULL,6188,NULL,'The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(27175,'NCBI Gene PubMed Count',NULL,6188,NULL,NULL,NULL,137,NULL,NULL,NULL),(27176,'NCBI Gene Summary',NULL,6189,NULL,'This gene may represent an evolving retropseudogene of the high-mobility group box 1 gene, which has multiple pseudogenes. This gene has an intact open reading frame, where the length of encoded protein is conserved, compared to the high-mobility group box 1 protein. However, due to the lack of conclusive evidence for specific transcription at this location, this locus is currently represented as a pseudogene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(27177,'NCBI Gene PubMed Count',NULL,6189,NULL,NULL,NULL,6,NULL,NULL,NULL),(27178,'NCBI Gene Summary',NULL,6190,NULL,'This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(27179,'NCBI Gene PubMed Count',NULL,6190,NULL,NULL,NULL,118,NULL,NULL,NULL),(27180,'NCBI Gene Summary',NULL,6191,NULL,'Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(27181,'NCBI Gene PubMed Count',NULL,6191,NULL,NULL,NULL,95,NULL,NULL,NULL),(27182,'NCBI Gene Summary',NULL,6192,NULL,'This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27183,'NCBI Gene PubMed Count',NULL,6192,NULL,NULL,NULL,50,NULL,NULL,NULL),(27184,'NCBI Gene Summary',NULL,6193,NULL,'The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington\'s disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(27185,'NCBI Gene PubMed Count',NULL,6193,NULL,NULL,NULL,70,NULL,NULL,NULL),(27186,'NCBI Gene PubMed Count',NULL,6194,NULL,NULL,NULL,2,NULL,NULL,NULL),(27187,'NCBI Gene Summary',NULL,6195,NULL,'The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(27188,'NCBI Gene PubMed Count',NULL,6195,NULL,NULL,NULL,43,NULL,NULL,NULL),(27189,'NCBI Gene Summary',NULL,6196,NULL,'This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(27190,'NCBI Gene PubMed Count',NULL,6196,NULL,NULL,NULL,67,NULL,NULL,NULL),(27191,'NCBI Gene Summary',NULL,6197,NULL,'\'Skinny hedgehog\' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of \'hedgehog\' (see MIM 600725).[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(27192,'NCBI Gene PubMed Count',NULL,6197,NULL,NULL,NULL,18,NULL,NULL,NULL),(27193,'NCBI Gene PubMed Count',NULL,6198,NULL,NULL,NULL,9,NULL,NULL,NULL),(27194,'NCBI Gene Summary',NULL,6199,NULL,'HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27195,'NCBI Gene PubMed Count',NULL,6199,NULL,NULL,NULL,756,NULL,NULL,NULL),(27196,'NCBI Gene Summary',NULL,6200,NULL,'The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27197,'NCBI Gene PubMed Count',NULL,6200,NULL,NULL,NULL,36,NULL,NULL,NULL),(27198,'NCBI Gene PubMed Count',NULL,6201,NULL,NULL,NULL,25,NULL,NULL,NULL),(27199,'NCBI Gene PubMed Count',NULL,6202,NULL,NULL,NULL,21,NULL,NULL,NULL),(27200,'NCBI Gene Summary',NULL,6203,NULL,'The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(27201,'NCBI Gene PubMed Count',NULL,6203,NULL,NULL,NULL,30,NULL,NULL,NULL),(27202,'NCBI Gene PubMed Count',NULL,6204,NULL,NULL,NULL,6,NULL,NULL,NULL),(27203,'NCBI Gene PubMed Count',NULL,6205,NULL,NULL,NULL,11,NULL,NULL,NULL),(27204,'NCBI Gene Summary',NULL,6206,NULL,'HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27205,'NCBI Gene PubMed Count',NULL,6206,NULL,NULL,NULL,9,NULL,NULL,NULL),(27206,'NCBI Gene Summary',NULL,6207,NULL,'This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(27207,'NCBI Gene PubMed Count',NULL,6207,NULL,NULL,NULL,14,NULL,NULL,NULL),(27208,'NCBI Gene PubMed Count',NULL,6208,NULL,NULL,NULL,23,NULL,NULL,NULL),(27209,'NCBI Gene PubMed Count',NULL,6209,NULL,NULL,NULL,1,NULL,NULL,NULL),(27210,'NCBI Gene Summary',NULL,6210,NULL,'This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(27211,'NCBI Gene PubMed Count',NULL,6210,NULL,NULL,NULL,8,NULL,NULL,NULL),(27212,'NCBI Gene PubMed Count',NULL,6211,NULL,NULL,NULL,2,NULL,NULL,NULL),(27213,'NCBI Gene PubMed Count',NULL,6212,NULL,NULL,NULL,43,NULL,NULL,NULL),(27214,'NCBI Gene Summary',NULL,6213,NULL,'This gene encodes a plasma glycoprotein that binds heme with high affinity. The encoded protein is an acute phase protein that transports heme from the plasma to the liver and may be involved in protecting cells from oxidative stress. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(27215,'NCBI Gene PubMed Count',NULL,6213,NULL,NULL,NULL,73,NULL,NULL,NULL),(27216,'NCBI Gene PubMed Count',NULL,6214,NULL,NULL,NULL,9,NULL,NULL,NULL),(27217,'NCBI Gene Summary',NULL,6215,NULL,'This gene encodes a member of the hypoxia inducible gene 1 (HIG1) domain family. The encoded protein is localized to the cell membrane and has been linked to tumorigenesis and the progression of pituitary adenomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(27218,'NCBI Gene PubMed Count',NULL,6215,NULL,NULL,NULL,7,NULL,NULL,NULL),(27219,'NCBI Gene PubMed Count',NULL,6216,NULL,NULL,NULL,31,NULL,NULL,NULL),(27220,'NCBI Gene Summary',NULL,6217,NULL,'The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(27221,'NCBI Gene PubMed Count',NULL,6217,NULL,NULL,NULL,43,NULL,NULL,NULL),(27222,'NCBI Gene PubMed Count',NULL,6218,NULL,NULL,NULL,13,NULL,NULL,NULL),(27223,'NCBI Gene Summary',NULL,6219,NULL,'This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(27224,'NCBI Gene PubMed Count',NULL,6219,NULL,NULL,NULL,9,NULL,NULL,NULL),(27225,'NCBI Gene Summary',NULL,6220,NULL,'Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the \'engrailed\' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27226,'NCBI Gene PubMed Count',NULL,6220,NULL,NULL,NULL,54,NULL,NULL,NULL),(27227,'NCBI Gene Summary',NULL,6221,NULL,'The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5\'-GTTAATNATTAAC-3\'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(27228,'NCBI Gene PubMed Count',NULL,6221,NULL,NULL,NULL,433,NULL,NULL,NULL),(27229,'NCBI Gene Summary',NULL,6222,NULL,'This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27230,'NCBI Gene PubMed Count',NULL,6222,NULL,NULL,NULL,61,NULL,NULL,NULL),(27231,'NCBI Gene PubMed Count',NULL,6223,NULL,NULL,NULL,8,NULL,NULL,NULL),(27232,'NCBI Gene Summary',NULL,6224,NULL,'This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate alpha and beta chains, which form the mature heterodimer. This protein is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. This protein also plays a role in angiogenesis, tumorogenesis, and tissue regeneration. Although the encoded protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Mutations in this gene are associated with nonsyndromic hearing loss. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(27233,'NCBI Gene PubMed Count',NULL,6224,NULL,NULL,NULL,712,NULL,NULL,NULL),(27234,'NCBI Gene Summary',NULL,6225,NULL,'This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(27235,'NCBI Gene PubMed Count',NULL,6225,NULL,NULL,NULL,74,NULL,NULL,NULL),(27236,'NCBI Gene PubMed Count',NULL,6226,NULL,NULL,NULL,5,NULL,NULL,NULL),(27237,'NCBI Gene PubMed Count',NULL,6227,NULL,NULL,NULL,3,NULL,NULL,NULL),(27238,'NCBI Gene Summary',NULL,6228,NULL,'This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27239,'NCBI Gene PubMed Count',NULL,6228,NULL,NULL,NULL,50,NULL,NULL,NULL),(27240,'NCBI Gene PubMed Count',NULL,6229,NULL,NULL,NULL,7,NULL,NULL,NULL),(27241,'NCBI Gene Summary',NULL,6230,NULL,'The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27242,'NCBI Gene PubMed Count',NULL,6230,NULL,NULL,NULL,98,NULL,NULL,NULL),(27243,'NCBI Gene Summary',NULL,6231,NULL,'The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5\'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3\'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5\' untranslated regions and the introns, but they differ significantly over the 3\' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27244,'NCBI Gene PubMed Count',NULL,6231,NULL,NULL,NULL,556,NULL,NULL,NULL),(27245,'NCBI Gene Summary',NULL,6232,NULL,'Huntington\'s disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27246,'NCBI Gene PubMed Count',NULL,6232,NULL,NULL,NULL,39,NULL,NULL,NULL),(27247,'NCBI Gene Summary',NULL,6233,NULL,'The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5\'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3\'. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27248,'NCBI Gene PubMed Count',NULL,6233,NULL,NULL,NULL,169,NULL,NULL,NULL),(27249,'NCBI Gene Summary',NULL,6234,NULL,'The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5\'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3\'. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27250,'NCBI Gene PubMed Count',NULL,6234,NULL,NULL,NULL,155,NULL,NULL,NULL),(27251,'NCBI Gene PubMed Count',NULL,6235,NULL,NULL,NULL,37,NULL,NULL,NULL),(27252,'NCBI Gene Summary',NULL,6236,NULL,'This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27253,'NCBI Gene PubMed Count',NULL,6236,NULL,NULL,NULL,7,NULL,NULL,NULL),(27254,'NCBI Gene Summary',NULL,6237,NULL,'The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(27255,'NCBI Gene PubMed Count',NULL,6237,NULL,NULL,NULL,32,NULL,NULL,NULL),(27256,'NCBI Gene PubMed Count',NULL,6238,NULL,NULL,NULL,1,NULL,NULL,NULL),(27257,'NCBI Gene Summary',NULL,6239,NULL,'This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27258,'NCBI Gene PubMed Count',NULL,6239,NULL,NULL,NULL,24,NULL,NULL,NULL),(27259,'NCBI Gene Summary',NULL,6240,NULL,'Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27260,'NCBI Gene PubMed Count',NULL,6240,NULL,NULL,NULL,85,NULL,NULL,NULL),(27261,'NCBI Gene PubMed Count',NULL,6241,NULL,NULL,NULL,5,NULL,NULL,NULL),(27262,'NCBI Gene Summary',NULL,6242,NULL,'This gene encodes a class IV histone deacetylase. The encoded protein is localized to the nucleus and may be involved in regulating the expression of interleukin 10. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(27263,'NCBI Gene PubMed Count',NULL,6242,NULL,NULL,NULL,31,NULL,NULL,NULL),(27264,'NCBI Gene Summary',NULL,6243,NULL,'This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(27265,'NCBI Gene PubMed Count',NULL,6243,NULL,NULL,NULL,6,NULL,NULL,NULL),(27266,'NCBI Gene Summary',NULL,6244,NULL,'The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(27267,'NCBI Gene PubMed Count',NULL,6244,NULL,NULL,NULL,14,NULL,NULL,NULL),(27268,'NCBI Gene Summary',NULL,6245,NULL,'Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27269,'NCBI Gene PubMed Count',NULL,6245,NULL,NULL,NULL,111,NULL,NULL,NULL),(27270,'NCBI Gene Summary',NULL,6246,NULL,'Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27271,'NCBI Gene PubMed Count',NULL,6246,NULL,NULL,NULL,46,NULL,NULL,NULL),(27272,'NCBI Gene Summary',NULL,6247,NULL,'KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27273,'NCBI Gene PubMed Count',NULL,6247,NULL,NULL,NULL,33,NULL,NULL,NULL),(27274,'NCBI Gene Summary',NULL,6248,NULL,'This gene product belongs to the histone deacetylase family. Histone deacetylases act via the formation of large multiprotein complexes, and are responsible for the deacetylation of lysine residues at the N-terminal regions of core histones (H2A, H2B, H3 and H4). This protein forms transcriptional repressor complexes by associating with many different proteins, including YY1, a mammalian zinc-finger transcription factor. Thus, it plays an important role in transcriptional regulation, cell cycle progression and developmental events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(27275,'NCBI Gene PubMed Count',NULL,6248,NULL,NULL,NULL,332,NULL,NULL,NULL),(27276,'NCBI Gene PubMed Count',NULL,6249,NULL,NULL,NULL,24,NULL,NULL,NULL),(27277,'NCBI Gene Summary',NULL,6250,NULL,'The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(27278,'NCBI Gene PubMed Count',NULL,6250,NULL,NULL,NULL,396,NULL,NULL,NULL),(27279,'NCBI Gene PubMed Count',NULL,6251,NULL,NULL,NULL,19,NULL,NULL,NULL),(27280,'NCBI Gene Summary',NULL,6252,NULL,'This gene is expressed in the liver, and encodes a short peptide that is localized predominantly to the cytoplasm. Transient transfection studies showed that expression of this gene significantly inhibited cell growth, and it may have a role in apoptosis. Expression of this gene is downregulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). Also to note is that this gene maps to the 3\'-noncoding region of HEPACAM gene (GeneID:220296) on the antisense strand (PMID:15885354). [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(27281,'NCBI Gene PubMed Count',NULL,6252,NULL,NULL,NULL,7,NULL,NULL,NULL),(27282,'NCBI Gene Summary',NULL,6253,NULL,'This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(27283,'NCBI Gene PubMed Count',NULL,6253,NULL,NULL,NULL,60,NULL,NULL,NULL),(27284,'NCBI Gene Summary',NULL,6254,NULL,'This gene encodes a member of the HEXIM family of proteins. This protein is a component of the 7SK small nuclear ribonucleoprotein. This protein has been found to negatively regulate the kinase activity of the cyclin-dependent kinase P-TEFb, which phosphorylates multiple target proteins to promote transcriptional elongation. This gene is located approximately 7 kb downstream from related family member HEXIM1 on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(27285,'NCBI Gene PubMed Count',NULL,6254,NULL,NULL,NULL,24,NULL,NULL,NULL),(27286,'NCBI Gene Summary',NULL,6255,NULL,'This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(27287,'NCBI Gene PubMed Count',NULL,6255,NULL,NULL,NULL,54,NULL,NULL,NULL),(27288,'NCBI Gene PubMed Count',NULL,6256,NULL,NULL,NULL,8,NULL,NULL,NULL),(27289,'NCBI Gene PubMed Count',NULL,6257,NULL,NULL,NULL,16,NULL,NULL,NULL),(27290,'NCBI Gene PubMed Count',NULL,6258,NULL,NULL,NULL,5,NULL,NULL,NULL),(27291,'NCBI Gene Summary',NULL,6259,NULL,'This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung\'s disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(27292,'NCBI Gene PubMed Count',NULL,6259,NULL,NULL,NULL,17,NULL,NULL,NULL),(27293,'NCBI Gene PubMed Count',NULL,6260,NULL,NULL,NULL,3,NULL,NULL,NULL),(27294,'NCBI Gene PubMed Count',NULL,6261,NULL,NULL,NULL,7,NULL,NULL,NULL),(27295,'NCBI Gene PubMed Count',NULL,6262,NULL,NULL,NULL,5,NULL,NULL,NULL),(27296,'NCBI Gene PubMed Count',NULL,6263,NULL,NULL,NULL,6,NULL,NULL,NULL),(27297,'NCBI Gene Summary',NULL,6264,NULL,'This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(27298,'NCBI Gene PubMed Count',NULL,6264,NULL,NULL,NULL,31,NULL,NULL,NULL),(27299,'NCBI Gene PubMed Count',NULL,6265,NULL,NULL,NULL,18,NULL,NULL,NULL),(27300,'NCBI Gene Summary',NULL,6266,NULL,'The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27301,'NCBI Gene PubMed Count',NULL,6266,NULL,NULL,NULL,15,NULL,NULL,NULL),(27302,'NCBI Gene Summary',NULL,6267,NULL,'The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther\'s disease). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27303,'NCBI Gene PubMed Count',NULL,6267,NULL,NULL,NULL,38,NULL,NULL,NULL),(27304,'NCBI Gene PubMed Count',NULL,6268,NULL,NULL,NULL,7,NULL,NULL,NULL),(27305,'NCBI Gene Summary',NULL,6269,NULL,'The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM, Nov 2002]',NULL,NULL,NULL,NULL,NULL),(27306,'NCBI Gene PubMed Count',NULL,6269,NULL,NULL,NULL,12,NULL,NULL,NULL),(27307,'NCBI Gene Summary',NULL,6270,NULL,'This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(27308,'NCBI Gene PubMed Count',NULL,6270,NULL,NULL,NULL,11,NULL,NULL,NULL),(27309,'NCBI Gene Summary',NULL,6271,NULL,'Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5\' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3\'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27310,'NCBI Gene PubMed Count',NULL,6271,NULL,NULL,NULL,14,NULL,NULL,NULL),(27311,'NCBI Gene Summary',NULL,6272,NULL,'The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 12 and 19. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(27312,'NCBI Gene PubMed Count',NULL,6272,NULL,NULL,NULL,195,NULL,NULL,NULL),(27313,'NCBI Gene Summary',NULL,6273,NULL,'The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(27314,'NCBI Gene PubMed Count',NULL,6273,NULL,NULL,NULL,263,NULL,NULL,NULL),(27315,'NCBI Gene Summary',NULL,6274,NULL,'The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27316,'NCBI Gene PubMed Count',NULL,6274,NULL,NULL,NULL,36,NULL,NULL,NULL),(27317,'NCBI Gene Summary',NULL,6275,NULL,'This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(27318,'NCBI Gene PubMed Count',NULL,6275,NULL,NULL,NULL,86,NULL,NULL,NULL),(27319,'NCBI Gene Summary',NULL,6276,NULL,'This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27320,'NCBI Gene PubMed Count',NULL,6276,NULL,NULL,NULL,170,NULL,NULL,NULL),(27321,'NCBI Gene Summary',NULL,6277,NULL,'This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(27322,'NCBI Gene PubMed Count',NULL,6277,NULL,NULL,NULL,23,NULL,NULL,NULL),(27323,'NCBI Gene Summary',NULL,6278,NULL,'This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(27324,'NCBI Gene PubMed Count',NULL,6278,NULL,NULL,NULL,27,NULL,NULL,NULL),(27325,'NCBI Gene Summary',NULL,6279,NULL,'This gene encodes a protein with a glyoxalase domain. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(27326,'NCBI Gene PubMed Count',NULL,6279,NULL,NULL,NULL,3,NULL,NULL,NULL),(27327,'NCBI Gene PubMed Count',NULL,6280,NULL,NULL,NULL,14,NULL,NULL,NULL),(27328,'NCBI Gene Summary',NULL,6281,NULL,'The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(27329,'NCBI Gene PubMed Count',NULL,6281,NULL,NULL,NULL,19,NULL,NULL,NULL),(27330,'NCBI Gene Summary',NULL,6282,NULL,'The protein encoded by this gene is similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27331,'NCBI Gene PubMed Count',NULL,6282,NULL,NULL,NULL,30,NULL,NULL,NULL),(27332,'NCBI Gene Summary',NULL,6283,NULL,'This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(27333,'NCBI Gene PubMed Count',NULL,6283,NULL,NULL,NULL,13,NULL,NULL,NULL),(27334,'NCBI Gene PubMed Count',NULL,6284,NULL,NULL,NULL,7,NULL,NULL,NULL),(27335,'NCBI Gene Summary',NULL,6285,NULL,'This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(27336,'NCBI Gene PubMed Count',NULL,6285,NULL,NULL,NULL,16,NULL,NULL,NULL),(27337,'NCBI Gene Summary',NULL,6286,NULL,'Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27338,'NCBI Gene PubMed Count',NULL,6286,NULL,NULL,NULL,8,NULL,NULL,NULL),(27339,'NCBI Gene Summary',NULL,6287,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class, and its C-terminal region is highly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27340,'NCBI Gene PubMed Count',NULL,6287,NULL,NULL,NULL,16,NULL,NULL,NULL),(27341,'NCBI Gene Summary',NULL,6288,NULL,'Members of the F-box protein family, such as FBXO39, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27342,'NCBI Gene PubMed Count',NULL,6288,NULL,NULL,NULL,8,NULL,NULL,NULL),(27343,'NCBI Gene Summary',NULL,6289,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27344,'NCBI Gene PubMed Count',NULL,6289,NULL,NULL,NULL,17,NULL,NULL,NULL),(27345,'NCBI Gene Summary',NULL,6290,NULL,'This gene encodes a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(27346,'NCBI Gene PubMed Count',NULL,6290,NULL,NULL,NULL,7,NULL,NULL,NULL),(27347,'NCBI Gene Summary',NULL,6291,NULL,'The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(27348,'NCBI Gene PubMed Count',NULL,6291,NULL,NULL,NULL,74,NULL,NULL,NULL),(27349,'NCBI Gene Summary',NULL,6292,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27350,'NCBI Gene PubMed Count',NULL,6292,NULL,NULL,NULL,75,NULL,NULL,NULL),(27351,'NCBI Gene Summary',NULL,6293,NULL,'This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(27352,'NCBI Gene PubMed Count',NULL,6293,NULL,NULL,NULL,92,NULL,NULL,NULL),(27353,'NCBI Gene Summary',NULL,6294,NULL,'The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27354,'NCBI Gene PubMed Count',NULL,6294,NULL,NULL,NULL,34,NULL,NULL,NULL),(27355,'NCBI Gene Summary',NULL,6295,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound healing, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27356,'NCBI Gene PubMed Count',NULL,6295,NULL,NULL,NULL,727,NULL,NULL,NULL),(27357,'NCBI Gene PubMed Count',NULL,6296,NULL,NULL,NULL,8,NULL,NULL,NULL),(27358,'NCBI Gene PubMed Count',NULL,6297,NULL,NULL,NULL,2,NULL,NULL,NULL),(27359,'NCBI Gene Summary',NULL,6298,NULL,'This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(27360,'NCBI Gene PubMed Count',NULL,6298,NULL,NULL,NULL,13,NULL,NULL,NULL),(27361,'NCBI Gene Summary',NULL,6299,NULL,'Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(27362,'NCBI Gene PubMed Count',NULL,6299,NULL,NULL,NULL,25,NULL,NULL,NULL),(27363,'NCBI Gene Summary',NULL,6300,NULL,'The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5\' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(27364,'NCBI Gene PubMed Count',NULL,6300,NULL,NULL,NULL,588,NULL,NULL,NULL),(27365,'NCBI Gene Summary',NULL,6301,NULL,'This locus represents naturally occurring read-through transcription between the neighboring CHURC1 (churchill domain containing 1) and FNTB (farnesyltransferase, CAAX box, beta) on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(27366,'NCBI Gene PubMed Count',NULL,6301,NULL,NULL,NULL,4,NULL,NULL,NULL),(27367,'NCBI Gene Summary',NULL,6302,NULL,'The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27368,'NCBI Gene PubMed Count',NULL,6302,NULL,NULL,NULL,56,NULL,NULL,NULL),(27369,'NCBI Gene Summary',NULL,6303,NULL,'L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream TNNI3 interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(27370,'NCBI Gene PubMed Count',NULL,6303,NULL,NULL,NULL,9,NULL,NULL,NULL),(27371,'NCBI Gene Summary',NULL,6304,NULL,'This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(27372,'NCBI Gene PubMed Count',NULL,6304,NULL,NULL,NULL,646,NULL,NULL,NULL),(27373,'NCBI Gene PubMed Count',NULL,6305,NULL,NULL,NULL,5,NULL,NULL,NULL),(27374,'NCBI Gene PubMed Count',NULL,6306,NULL,NULL,NULL,4,NULL,NULL,NULL),(27375,'NCBI Gene PubMed Count',NULL,6307,NULL,NULL,NULL,6,NULL,NULL,NULL),(27376,'NCBI Gene Summary',NULL,6308,NULL,'FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27377,'NCBI Gene PubMed Count',NULL,6308,NULL,NULL,NULL,33,NULL,NULL,NULL),(27378,'NCBI Gene Summary',NULL,6309,NULL,'This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(27379,'NCBI Gene PubMed Count',NULL,6309,NULL,NULL,NULL,19,NULL,NULL,NULL),(27380,'NCBI Gene Summary',NULL,6310,NULL,'The forkhead family of transcription factors belongs to the winged helix class of DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead domain and is found predominantly in aorta and kidney. The function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27381,'NCBI Gene PubMed Count',NULL,6310,NULL,NULL,NULL,8,NULL,NULL,NULL),(27382,'NCBI Gene Summary',NULL,6311,NULL,'The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(27383,'NCBI Gene PubMed Count',NULL,6311,NULL,NULL,NULL,290,NULL,NULL,NULL),(27384,'NCBI Gene PubMed Count',NULL,6312,NULL,NULL,NULL,10,NULL,NULL,NULL),(27385,'NCBI Gene PubMed Count',NULL,6313,NULL,NULL,NULL,7,NULL,NULL,NULL),(27386,'NCBI Gene Summary',NULL,6314,NULL,'This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. The product of this gene is one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is also thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140 and may play a role in tumor progression. This gene is located in close proximity to family member proprotein convertase subtilisin/kexin type 6 and upstream of the FES oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(27387,'NCBI Gene PubMed Count',NULL,6314,NULL,NULL,NULL,204,NULL,NULL,NULL),(27388,'NCBI Gene PubMed Count',NULL,6315,NULL,NULL,NULL,10,NULL,NULL,NULL),(27389,'NCBI Gene PubMed Count',NULL,6316,NULL,NULL,NULL,8,NULL,NULL,NULL),(27390,'NCBI Gene Summary',NULL,6317,NULL,'This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(27391,'NCBI Gene PubMed Count',NULL,6317,NULL,NULL,NULL,23,NULL,NULL,NULL),(27392,'NCBI Gene PubMed Count',NULL,6318,NULL,NULL,NULL,93,NULL,NULL,NULL),(27393,'NCBI Gene Summary',NULL,6319,NULL,'This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009]',NULL,NULL,NULL,NULL,NULL),(27394,'NCBI Gene PubMed Count',NULL,6319,NULL,NULL,NULL,41,NULL,NULL,NULL),(27395,'NCBI Gene Summary',NULL,6320,NULL,' Members of the \'frizzled\' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins.  The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27396,'NCBI Gene PubMed Count',NULL,6320,NULL,NULL,NULL,49,NULL,NULL,NULL),(27397,'NCBI Gene Summary',NULL,6321,NULL,'This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(27398,'NCBI Gene PubMed Count',NULL,6321,NULL,NULL,NULL,40,NULL,NULL,NULL),(27399,'NCBI Gene Summary',NULL,6322,NULL,'This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The encoded protein has additionally been identified to have uracil DNA glycosylase activity in the nucleus. Also, this protein contains a peptide that has antimicrobial activity against E. coli, P. aeruginosa, and C. albicans. Studies of a similar protein in mouse have assigned a variety of additional functions including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Many pseudogenes similar to this locus are present in the human genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(27400,'NCBI Gene PubMed Count',NULL,6322,NULL,NULL,NULL,263,NULL,NULL,NULL),(27401,'NCBI Gene PubMed Count',NULL,6323,NULL,NULL,NULL,9,NULL,NULL,NULL),(27402,'NCBI Gene Summary',NULL,6324,NULL,'This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27403,'NCBI Gene PubMed Count',NULL,6324,NULL,NULL,NULL,55,NULL,NULL,NULL),(27404,'NCBI Gene PubMed Count',NULL,6326,NULL,NULL,NULL,3,NULL,NULL,NULL),(27405,'NCBI Gene PubMed Count',NULL,6327,NULL,NULL,NULL,11,NULL,NULL,NULL),(27406,'NCBI Gene PubMed Count',NULL,6328,NULL,NULL,NULL,2,NULL,NULL,NULL),(27407,'NCBI Gene Summary',NULL,6330,NULL,'This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27408,'NCBI Gene PubMed Count',NULL,6330,NULL,NULL,NULL,9,NULL,NULL,NULL),(27409,'NCBI Gene Summary',NULL,6331,NULL,'This gene encodes a neuroendocrine peptide that is widely expressed in the central and peripheral nervous systems and also the gastrointestinal tract, pancreas, adrenal gland and urogenital tract. The encoded protein is a precursor that is proteolytically processed to generate two mature peptides: galanin and galanin message-associated peptide (GMAP). Galanin has diverse physiological functions including nociception, feeding and energy homeostasis, osmotic regulation and water balance. GMAP has been demonstrated to possess antifungal activity and hypothesized to be part of the innate immune system. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(27410,'NCBI Gene PubMed Count',NULL,6331,NULL,NULL,NULL,116,NULL,NULL,NULL),(27411,'NCBI Gene Summary',NULL,6332,NULL,'This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27412,'NCBI Gene PubMed Count',NULL,6332,NULL,NULL,NULL,60,NULL,NULL,NULL),(27413,'NCBI Gene Summary',NULL,6333,NULL,'This locus represents naturally occurring transcripts that splice the 5\' exons of the POC1B (POC1 centriolar protein homolog B) gene on chromosome 12 to the GALNT4 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4) gene, which is located within a POC1B intron. Alternative splicing results in two transcript variants, one of which encodes a fusion isoform that shares sequence identity with the products of each individual gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(27414,'NCBI Gene PubMed Count',NULL,6333,NULL,NULL,NULL,1,NULL,NULL,NULL),(27415,'NCBI Gene Summary',NULL,6334,NULL,'This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(27416,'NCBI Gene PubMed Count',NULL,6334,NULL,NULL,NULL,18,NULL,NULL,NULL),(27417,'NCBI Gene PubMed Count',NULL,6335,NULL,NULL,NULL,3,NULL,NULL,NULL),(27418,'NCBI Gene Summary',NULL,6336,NULL,'This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(27419,'NCBI Gene PubMed Count',NULL,6336,NULL,NULL,NULL,22,NULL,NULL,NULL),(27420,'NCBI Gene Summary',NULL,6337,NULL,'Growth arrest-specific 1 plays a role in growth suppression.  GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells.  Gas1 is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27421,'NCBI Gene PubMed Count',NULL,6337,NULL,NULL,NULL,40,NULL,NULL,NULL),(27422,'NCBI Gene Summary',NULL,6338,NULL,'This locus represents naturally occurring readthrough transcription among the adjacent armadillo repeat containing, X-linked 5 (ARMCX5), G protein-coupled receptor associated sorting proteins 1 and 2 (GPRASP1 and GPRASP2), basic helix-loop-helix family member b9 (BHLHB9), and long intergenic non-protein coding RNA 630 (LINC00630) genes on chromosome X. Transcripts may make use of multiple alternative promoters and polyadenylation signals in this region. Readthrough transcripts may produce proteins identical to the proteins encoded by GPRASP2 or BHLHB9. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(27423,'NCBI Gene PubMed Count',NULL,6338,NULL,NULL,NULL,15,NULL,NULL,NULL),(27424,'NCBI Gene Summary',NULL,6339,NULL,'The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(27425,'NCBI Gene PubMed Count',NULL,6339,NULL,NULL,NULL,19,NULL,NULL,NULL),(27426,'NCBI Gene Summary',NULL,6340,NULL,'This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(27427,'NCBI Gene PubMed Count',NULL,6340,NULL,NULL,NULL,354,NULL,NULL,NULL),(27428,'NCBI Gene Summary',NULL,6341,NULL,'This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(27429,'NCBI Gene PubMed Count',NULL,6341,NULL,NULL,NULL,28,NULL,NULL,NULL),(27430,'NCBI Gene PubMed Count',NULL,6342,NULL,NULL,NULL,20,NULL,NULL,NULL),(27431,'NCBI Gene Summary',NULL,6343,NULL,'This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(27432,'NCBI Gene PubMed Count',NULL,6343,NULL,NULL,NULL,17,NULL,NULL,NULL),(27433,'NCBI Gene Summary',NULL,6344,NULL,'Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(27434,'NCBI Gene PubMed Count',NULL,6344,NULL,NULL,NULL,17,NULL,NULL,NULL),(27435,'NCBI Gene Summary',NULL,6345,NULL,'This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(27436,'NCBI Gene PubMed Count',NULL,6345,NULL,NULL,NULL,302,NULL,NULL,NULL),(27437,'NCBI Gene Summary',NULL,6346,NULL,'This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(27438,'NCBI Gene PubMed Count',NULL,6346,NULL,NULL,NULL,144,NULL,NULL,NULL),(27439,'NCBI Gene PubMed Count',NULL,6347,NULL,NULL,NULL,7,NULL,NULL,NULL),(27440,'NCBI Gene Summary',NULL,6348,NULL,'This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(27441,'NCBI Gene PubMed Count',NULL,6348,NULL,NULL,NULL,30,NULL,NULL,NULL),(27442,'NCBI Gene Summary',NULL,6349,NULL,'The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(27443,'NCBI Gene PubMed Count',NULL,6349,NULL,NULL,NULL,3,NULL,NULL,NULL),(27444,'NCBI Gene PubMed Count',NULL,6350,NULL,NULL,NULL,2,NULL,NULL,NULL),(27445,'NCBI Gene Summary',NULL,6352,NULL,'In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the \'cyclin box.\' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(27446,'NCBI Gene PubMed Count',NULL,6352,NULL,NULL,NULL,57,NULL,NULL,NULL),(27447,'NCBI Gene Summary',NULL,6353,NULL,'The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(27448,'NCBI Gene PubMed Count',NULL,6353,NULL,NULL,NULL,37,NULL,NULL,NULL),(27449,'NCBI Gene Summary',NULL,6354,NULL,'This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has a high affinity for both sulfated and nonsulfated CCK analogs and is found principally in the central nervous system and the gastrointestinal tract. Alternative splicing results in multiple transcript variants. A misspliced transcript variant including an intron has been observed in cells from colorectal and pancreatic tumors. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(27450,'NCBI Gene PubMed Count',NULL,6354,NULL,NULL,NULL,122,NULL,NULL,NULL),(27451,'NCBI Gene Summary',NULL,6355,NULL,'This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(27452,'NCBI Gene PubMed Count',NULL,6355,NULL,NULL,NULL,16,NULL,NULL,NULL),(27453,'NCBI Gene PubMed Count',NULL,6356,NULL,NULL,NULL,5,NULL,NULL,NULL),(27454,'NCBI Gene Summary',NULL,6357,NULL,'This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein\'s C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(27455,'NCBI Gene PubMed Count',NULL,6357,NULL,NULL,NULL,24,NULL,NULL,NULL),(27456,'NCBI Gene PubMed Count',NULL,6358,NULL,NULL,NULL,15,NULL,NULL,NULL),(27457,'NCBI Gene Summary',NULL,6359,NULL,'This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(27458,'NCBI Gene PubMed Count',NULL,6359,NULL,NULL,NULL,322,NULL,NULL,NULL),(27459,'NCBI Gene PubMed Count',NULL,6360,NULL,NULL,NULL,12,NULL,NULL,NULL),(27460,'NCBI Gene Summary',NULL,6361,NULL,'The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(27461,'NCBI Gene PubMed Count',NULL,6361,NULL,NULL,NULL,11,NULL,NULL,NULL),(27462,'NCBI Gene Summary',NULL,6362,NULL,'Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(27463,'NCBI Gene PubMed Count',NULL,6362,NULL,NULL,NULL,77,NULL,NULL,NULL),(27464,'NCBI Gene PubMed Count',NULL,6363,NULL,NULL,NULL,10,NULL,NULL,NULL),(27465,'NCBI Gene PubMed Count',NULL,6364,NULL,NULL,NULL,15,NULL,NULL,NULL),(27466,'NCBI Gene Summary',NULL,6365,NULL,'The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(27467,'NCBI Gene PubMed Count',NULL,6365,NULL,NULL,NULL,29,NULL,NULL,NULL),(27468,'NCBI Gene PubMed Count',NULL,6366,NULL,NULL,NULL,40,NULL,NULL,NULL),(27469,'NCBI Gene Summary',NULL,6367,NULL,'This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases.  The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27470,'NCBI Gene PubMed Count',NULL,6367,NULL,NULL,NULL,57,NULL,NULL,NULL),(27471,'NCBI Gene PubMed Count',NULL,6368,NULL,NULL,NULL,7,NULL,NULL,NULL),(27472,'NCBI Gene Summary',NULL,6369,NULL,'This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27473,'NCBI Gene PubMed Count',NULL,6369,NULL,NULL,NULL,17,NULL,NULL,NULL),(27474,'NCBI Gene Summary',NULL,6370,NULL,'Gastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic factor for gastrointestinal epithelial cells. Gastrin has two biologically active peptide forms, G34 and G17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27475,'NCBI Gene PubMed Count',NULL,6370,NULL,NULL,NULL,114,NULL,NULL,NULL),(27476,'NCBI Gene Summary',NULL,6371,NULL,'This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has been implicated as an adverse prognostic marker. Elevated protein levels are additionally associated with a variety of disease states, including venous thromboembolic disease, systemic lupus erythematosus, chronic renal failure, and preeclampsia. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(27477,'NCBI Gene PubMed Count',NULL,6371,NULL,NULL,NULL,166,NULL,NULL,NULL),(27478,'NCBI Gene Summary',NULL,6372,NULL,'This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and is involved in the process of phagocytosis and clearing of immune complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(27479,'NCBI Gene PubMed Count',NULL,6372,NULL,NULL,NULL,461,NULL,NULL,NULL),(27480,'NCBI Gene Summary',NULL,6373,NULL,' The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins.  However, all these proteins recognize different targets, and are functionally distinct.  Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27481,'NCBI Gene PubMed Count',NULL,6373,NULL,NULL,NULL,56,NULL,NULL,NULL),(27482,'NCBI Gene Summary',NULL,6374,NULL,'Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27483,'NCBI Gene PubMed Count',NULL,6374,NULL,NULL,NULL,9,NULL,NULL,NULL),(27484,'NCBI Gene PubMed Count',NULL,6375,NULL,NULL,NULL,13,NULL,NULL,NULL),(27485,'NCBI Gene Summary',NULL,6376,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This growth factor is a high affinity, heparin dependent ligand for FGFR4. Expression of this gene was detected only in fetal but not adult brain tissue. Synergistic interaction of the chick homolog and Wnt-8c has been shown to be required for initiation of inner ear development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27486,'NCBI Gene PubMed Count',NULL,6376,NULL,NULL,NULL,99,NULL,NULL,NULL),(27487,'NCBI Gene Summary',NULL,6377,NULL,'This gene belongs to the ETS transcription factor family. ETS family members have a highly conserved 85-amino acid ETS domain that binds purine-rich DNA sequences. The alanine-rich C-terminus of this gene indicates that it may act as a transcription repressor. This gene is exclusively expressed in neurons of the central serotonin (5-HT) system, a system implicated in the pathogeny of such psychiatric diseases as depression, anxiety, and eating disorders. In some types of Ewing tumors, this gene is fused to the Ewing sarcoma (EWS) gene following chromosome translocations. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27488,'NCBI Gene PubMed Count',NULL,6377,NULL,NULL,NULL,22,NULL,NULL,NULL),(27489,'NCBI Gene Summary',NULL,6378,NULL,'This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27490,'NCBI Gene PubMed Count',NULL,6378,NULL,NULL,NULL,47,NULL,NULL,NULL),(27491,'NCBI Gene Summary',NULL,6379,NULL,'The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(27492,'NCBI Gene PubMed Count',NULL,6379,NULL,NULL,NULL,21,NULL,NULL,NULL),(27493,'NCBI Gene Summary',NULL,6380,NULL,'The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(27494,'NCBI Gene PubMed Count',NULL,6380,NULL,NULL,NULL,111,NULL,NULL,NULL),(27495,'NCBI Gene Summary',NULL,6381,NULL,'The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27496,'NCBI Gene PubMed Count',NULL,6381,NULL,NULL,NULL,38,NULL,NULL,NULL),(27497,'NCBI Gene Summary',NULL,6382,NULL,'The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular genes. This gene encodes a WT1-associating protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throughout the nucleoplasm as well as in speckles and partially colocalizes with splicing factors. Alternative splicing of this gene results in several transcript variants encoding three different isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(27498,'NCBI Gene PubMed Count',NULL,6382,NULL,NULL,NULL,36,NULL,NULL,NULL),(27499,'NCBI Gene Summary',NULL,6383,NULL,'Metabolic N-oxidation of diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man. This results in a small subpopulation with reduced TMA N-oxidation capacity and causes fish odor syndrome (Trimethylaminuria). Three forms of the enzyme are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(27500,'NCBI Gene PubMed Count',NULL,6383,NULL,NULL,NULL,14,NULL,NULL,NULL),(27501,'NCBI Gene PubMed Count',NULL,6384,NULL,NULL,NULL,11,NULL,NULL,NULL),(27502,'NCBI Gene Summary',NULL,6385,NULL,'Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(27503,'NCBI Gene PubMed Count',NULL,6385,NULL,NULL,NULL,55,NULL,NULL,NULL),(27504,'NCBI Gene PubMed Count',NULL,6386,NULL,NULL,NULL,5,NULL,NULL,NULL),(27505,'NCBI Gene Summary',NULL,6387,NULL,'This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(27506,'NCBI Gene PubMed Count',NULL,6387,NULL,NULL,NULL,23,NULL,NULL,NULL),(27507,'NCBI Gene Summary',NULL,6388,NULL,'This gene encodes a member of the forkhead box (FOX) family of transcription factors. FOX family members are monomeric, helix-turn-helix proteins with a core DNA-binding domain of approximately 110 aa. Many FOX transcription factors play roles in determining cell fates during early development. This forkhead box protein lacks the C-terminal basic region found in many other FOX family members. It is located within the 11q23.3 region which is commonly deleted in neuroblastomas. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27508,'NCBI Gene PubMed Count',NULL,6388,NULL,NULL,NULL,8,NULL,NULL,NULL),(27509,'NCBI Gene PubMed Count',NULL,6389,NULL,NULL,NULL,2,NULL,NULL,NULL),(27510,'NCBI Gene Summary',NULL,6390,NULL,'This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(27511,'NCBI Gene PubMed Count',NULL,6390,NULL,NULL,NULL,20,NULL,NULL,NULL),(27512,'NCBI Gene PubMed Count',NULL,6391,NULL,NULL,NULL,26,NULL,NULL,NULL),(27513,'NCBI Gene Summary',NULL,6392,NULL,'The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator of the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27514,'NCBI Gene PubMed Count',NULL,6392,NULL,NULL,NULL,12,NULL,NULL,NULL),(27515,'NCBI Gene Summary',NULL,6393,NULL,'This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27516,'NCBI Gene PubMed Count',NULL,6393,NULL,NULL,NULL,533,NULL,NULL,NULL),(27517,'NCBI Gene PubMed Count',NULL,6394,NULL,NULL,NULL,13,NULL,NULL,NULL),(27518,'NCBI Gene PubMed Count',NULL,6395,NULL,NULL,NULL,12,NULL,NULL,NULL),(27519,'NCBI Gene Summary',NULL,6396,NULL,'This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(27520,'NCBI Gene PubMed Count',NULL,6396,NULL,NULL,NULL,7,NULL,NULL,NULL),(27521,'NCBI Gene Summary',NULL,6397,NULL,'This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(27522,'NCBI Gene PubMed Count',NULL,6397,NULL,NULL,NULL,699,NULL,NULL,NULL),(27523,'NCBI Gene PubMed Count',NULL,6398,NULL,NULL,NULL,2,NULL,NULL,NULL),(27524,'NCBI Gene Summary',NULL,6399,NULL,'This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(27525,'NCBI Gene PubMed Count',NULL,6399,NULL,NULL,NULL,68,NULL,NULL,NULL),(27526,'NCBI Gene Summary',NULL,6400,NULL,'Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27527,'NCBI Gene PubMed Count',NULL,6400,NULL,NULL,NULL,15,NULL,NULL,NULL),(27528,'NCBI Gene PubMed Count',NULL,6401,NULL,NULL,NULL,29,NULL,NULL,NULL),(27529,'NCBI Gene Summary',NULL,6402,NULL,'This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(27530,'NCBI Gene PubMed Count',NULL,6402,NULL,NULL,NULL,11,NULL,NULL,NULL),(27531,'NCBI Gene Summary',NULL,6403,NULL,'This gene represents a member of the \'frizzled\' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(27532,'NCBI Gene PubMed Count',NULL,6403,NULL,NULL,NULL,38,NULL,NULL,NULL),(27533,'NCBI Gene Summary',NULL,6404,NULL,'This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27534,'NCBI Gene PubMed Count',NULL,6404,NULL,NULL,NULL,21,NULL,NULL,NULL),(27535,'NCBI Gene Summary',NULL,6405,NULL,'The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(27536,'NCBI Gene PubMed Count',NULL,6405,NULL,NULL,NULL,10,NULL,NULL,NULL),(27537,'NCBI Gene Summary',NULL,6406,NULL,'This gene encodes a secreted protein that is released from muscle cells during exercise. The encoded protein may participate in the development of brown fat. Translation of the precursor protein initiates at a non-AUG start codon at a position that is conserved as an AUG start codon in other organisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(27538,'NCBI Gene PubMed Count',NULL,6406,NULL,NULL,NULL,184,NULL,NULL,NULL),(27539,'NCBI Gene PubMed Count',NULL,6407,NULL,NULL,NULL,2,NULL,NULL,NULL),(27540,'NCBI Gene PubMed Count',NULL,6408,NULL,NULL,NULL,13,NULL,NULL,NULL),(27541,'NCBI Gene PubMed Count',NULL,6409,NULL,NULL,NULL,14,NULL,NULL,NULL),(27542,'NCBI Gene PubMed Count',NULL,6410,NULL,NULL,NULL,2,NULL,NULL,NULL),(27543,'NCBI Gene PubMed Count',NULL,6411,NULL,NULL,NULL,13,NULL,NULL,NULL),(27544,'NCBI Gene PubMed Count',NULL,6412,NULL,NULL,NULL,1,NULL,NULL,NULL),(27545,'NCBI Gene Summary',NULL,6413,NULL,'This gene encodes a protein that contains a PDZ (post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (Dlg1), and zonula occludens-1 protein (zo-1) domain at the N-terminus followed by a FERM domain. The encoded protein is involved in signal transduction. The PDZ domain is thought to function in protein-protein interactions, mainly by binding to specific C-terminal peptides of other proteins. The FERM domain is found in proteins that are localized to the plasma membrane and are associated with the cytoskeleton. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(27546,'NCBI Gene PubMed Count',NULL,6413,NULL,NULL,NULL,3,NULL,NULL,NULL),(27547,'NCBI Gene PubMed Count',NULL,6414,NULL,NULL,NULL,6,NULL,NULL,NULL),(27548,'NCBI Gene Summary',NULL,6415,NULL,'The protein encoded by this gene is a single stranded DNA-binding protein that binds to multiple DNA elements, including the far upstream element (FUSE) located upstream of c-myc. Binding to FUSE occurs on the non-coding strand, and is important to the regulation of c-myc in undifferentiated cells. This protein contains three domains, an amphipathic helix N-terminal domain, a DNA-binding central domain, and a C-terminal transactivation domain that contains three tyrosine-rich motifs. The N-terminal domain is thought to repress the activity of the C-terminal domain. This protein is also thought to bind RNA, and contains 3\'-5\' helicase activity with in vitro activity on both DNA-DNA and RNA-RNA duplexes. Aberrant expression of this gene has been found in malignant tissues, and this gene is important to neural system and lung development. Binding of this protein to viral RNA is thought to play a role in several viral diseases, including hepatitis C and hand, foot and mouth disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(27549,'NCBI Gene PubMed Count',NULL,6415,NULL,NULL,NULL,63,NULL,NULL,NULL),(27550,'NCBI Gene Summary',NULL,6416,NULL,'The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(27551,'NCBI Gene PubMed Count',NULL,6416,NULL,NULL,NULL,61,NULL,NULL,NULL),(27552,'NCBI Gene Summary',NULL,6417,NULL,'This locus represents a transcribed pseudogene that is related to genes encoding members of the F-box family of proteins. [provided by RefSeq, Nov 2017]',NULL,NULL,NULL,NULL,NULL),(27553,'NCBI Gene PubMed Count',NULL,6417,NULL,NULL,NULL,9,NULL,NULL,NULL),(27554,'NCBI Gene Summary',NULL,6418,NULL,'Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(27555,'NCBI Gene PubMed Count',NULL,6418,NULL,NULL,NULL,58,NULL,NULL,NULL),(27556,'NCBI Gene Summary',NULL,6419,NULL,'This gene encodes an protein that localizes to the caveolae, which are small domains on the inner cell membranes. This protein plays a role in vesicle trafficking and cell morphology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(27557,'NCBI Gene PubMed Count',NULL,6419,NULL,NULL,NULL,99,NULL,NULL,NULL),(27558,'NCBI Gene Summary',NULL,6420,NULL,'The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27559,'NCBI Gene PubMed Count',NULL,6420,NULL,NULL,NULL,34,NULL,NULL,NULL),(27560,'NCBI Gene PubMed Count',NULL,6421,NULL,NULL,NULL,2,NULL,NULL,NULL),(27561,'NCBI Gene PubMed Count',NULL,6422,NULL,NULL,NULL,7,NULL,NULL,NULL),(27562,'NCBI Gene Summary',NULL,6423,NULL,'This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding \'forkhead\' domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(27563,'NCBI Gene PubMed Count',NULL,6423,NULL,NULL,NULL,103,NULL,NULL,NULL),(27564,'NCBI Gene Summary',NULL,6424,NULL,'This gene encodes a forkhead domain binding protein and may function in the transcriptional regulation of the human T-cell leukemia virus long terminal repeat. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27565,'NCBI Gene PubMed Count',NULL,6424,NULL,NULL,NULL,9,NULL,NULL,NULL),(27566,'NCBI Gene Summary',NULL,6425,NULL,'This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(27567,'NCBI Gene PubMed Count',NULL,6425,NULL,NULL,NULL,178,NULL,NULL,NULL),(27568,'NCBI Gene PubMed Count',NULL,6426,NULL,NULL,NULL,119,NULL,NULL,NULL),(27569,'NCBI Gene Summary',NULL,6427,NULL,'This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(27570,'NCBI Gene PubMed Count',NULL,6427,NULL,NULL,NULL,7,NULL,NULL,NULL),(27571,'NCBI Gene Summary',NULL,6428,NULL,'This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27572,'NCBI Gene PubMed Count',NULL,6428,NULL,NULL,NULL,29,NULL,NULL,NULL),(27573,'NCBI Gene PubMed Count',NULL,6429,NULL,NULL,NULL,1,NULL,NULL,NULL),(27574,'NCBI Gene Summary',NULL,6430,NULL,' Follistatin is a single-chain gonadal protein that specifically inhibits follicle-stimulating hormone release.  The single FST gene encodes two isoforms, FST317 and FST344 containing 317 and 344 amino acids respectively, resulting from alternative splicing of the precursor mRNA.  In a study in which 37 candidate genes were tested for linkage and association with polycystic ovary syndrome (PCOS) or hyperandrogenemia in 150 families, evidence was found for linkage between PCOS and follistatin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27575,'NCBI Gene PubMed Count',NULL,6430,NULL,NULL,NULL,113,NULL,NULL,NULL),(27576,'NCBI Gene PubMed Count',NULL,6431,NULL,NULL,NULL,6,NULL,NULL,NULL),(27577,'NCBI Gene Summary',NULL,6432,NULL,'Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(27578,'NCBI Gene PubMed Count',NULL,6432,NULL,NULL,NULL,49,NULL,NULL,NULL),(27579,'NCBI Gene Summary',NULL,6433,NULL,'The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27580,'NCBI Gene PubMed Count',NULL,6433,NULL,NULL,NULL,105,NULL,NULL,NULL),(27581,'NCBI Gene PubMed Count',NULL,6434,NULL,NULL,NULL,7,NULL,NULL,NULL),(27582,'NCBI Gene Summary',NULL,6435,NULL,'The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27583,'NCBI Gene PubMed Count',NULL,6435,NULL,NULL,NULL,39,NULL,NULL,NULL),(27584,'NCBI Gene Summary',NULL,6436,NULL,'This gene is a member of the forkhead/winged-helix (FOX) family of transcription factors with highly conserved FOX DNA-binding domains. Members of the FOX family of transcription factors are regulators of embryogenesis and may play a role in human cancer. This gene lies in a region of chromosome 2 that surrounds the site where two ancestral chromosomes fused to form human chromosome 2. This region is duplicated elsewhere in the human genome, primarily in subtelomeric and pericentromeric locations, thus mutiple copies of this gene have been found. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27585,'NCBI Gene PubMed Count',NULL,6436,NULL,NULL,NULL,9,NULL,NULL,NULL),(27586,'NCBI Gene PubMed Count',NULL,6437,NULL,NULL,NULL,6,NULL,NULL,NULL),(27587,'NCBI Gene PubMed Count',NULL,6438,NULL,NULL,NULL,9,NULL,NULL,NULL),(27588,'NCBI Gene PubMed Count',NULL,6439,NULL,NULL,NULL,11,NULL,NULL,NULL),(27589,'NCBI Gene PubMed Count',NULL,6440,NULL,NULL,NULL,17,NULL,NULL,NULL),(27590,'NCBI Gene Summary',NULL,6441,NULL,'This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000]',NULL,NULL,NULL,NULL,NULL),(27591,'NCBI Gene PubMed Count',NULL,6441,NULL,NULL,NULL,10,NULL,NULL,NULL),(27592,'NCBI Gene Summary',NULL,6442,NULL,'This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains three immune-receptor tyrosine-based inhibitory motifs. This protein may play a role in the function of memory B-cells in the epithelia. Aberrations in the chromosomal region encoding this gene are associated with non-Hodgkin lymphoma and multiple myeloma. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(27593,'NCBI Gene PubMed Count',NULL,6442,NULL,NULL,NULL,32,NULL,NULL,NULL),(27594,'NCBI Gene Summary',NULL,6443,NULL,'FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27595,'NCBI Gene PubMed Count',NULL,6443,NULL,NULL,NULL,9,NULL,NULL,NULL),(27596,'NCBI Gene PubMed Count',NULL,6444,NULL,NULL,NULL,5,NULL,NULL,NULL),(27597,'NCBI Gene PubMed Count',NULL,6445,NULL,NULL,NULL,7,NULL,NULL,NULL),(27598,'NCBI Gene PubMed Count',NULL,6446,NULL,NULL,NULL,9,NULL,NULL,NULL),(27599,'NCBI Gene Summary',NULL,6447,NULL,'The protein encoded by this gene is a P1-P3-bis(5\'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(27600,'NCBI Gene PubMed Count',NULL,6447,NULL,NULL,NULL,312,NULL,NULL,NULL),(27601,'NCBI Gene PubMed Count',NULL,6448,NULL,NULL,NULL,13,NULL,NULL,NULL),(27602,'NCBI Gene Summary',NULL,6449,NULL,'This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(27603,'NCBI Gene PubMed Count',NULL,6449,NULL,NULL,NULL,23,NULL,NULL,NULL),(27604,'NCBI Gene Summary',NULL,6450,NULL,'This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(27605,'NCBI Gene PubMed Count',NULL,6450,NULL,NULL,NULL,38,NULL,NULL,NULL),(27606,'NCBI Gene PubMed Count',NULL,6451,NULL,NULL,NULL,7,NULL,NULL,NULL),(27607,'NCBI Gene Summary',NULL,6452,NULL,'This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(27608,'NCBI Gene PubMed Count',NULL,6452,NULL,NULL,NULL,15,NULL,NULL,NULL),(27609,'NCBI Gene Summary',NULL,6453,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(27610,'NCBI Gene PubMed Count',NULL,6453,NULL,NULL,NULL,42,NULL,NULL,NULL),(27611,'NCBI Gene Summary',NULL,6454,NULL,'This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27612,'NCBI Gene PubMed Count',NULL,6454,NULL,NULL,NULL,7,NULL,NULL,NULL),(27613,'NCBI Gene Summary',NULL,6455,NULL,'The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(27614,'NCBI Gene PubMed Count',NULL,6455,NULL,NULL,NULL,34,NULL,NULL,NULL),(27615,'NCBI Gene Summary',NULL,6456,NULL,'This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(27616,'NCBI Gene PubMed Count',NULL,6456,NULL,NULL,NULL,16,NULL,NULL,NULL),(27617,'NCBI Gene Summary',NULL,6457,NULL,'This locus represents naturally occurring readthrough transcription between the neighboring C7orf55 (chromosome 7 open reading frame 55) and LUC7L2 (LUC7-like 2) genes on chromosome 7. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(27618,'NCBI Gene PubMed Count',NULL,6457,NULL,NULL,NULL,3,NULL,NULL,NULL),(27619,'NCBI Gene Summary',NULL,6458,NULL,'This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(27620,'NCBI Gene PubMed Count',NULL,6458,NULL,NULL,NULL,39,NULL,NULL,NULL),(27621,'NCBI Gene Summary',NULL,6459,NULL,'This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(27622,'NCBI Gene PubMed Count',NULL,6459,NULL,NULL,NULL,22,NULL,NULL,NULL),(27623,'NCBI Gene PubMed Count',NULL,6460,NULL,NULL,NULL,9,NULL,NULL,NULL),(27624,'NCBI Gene PubMed Count',NULL,6461,NULL,NULL,NULL,30,NULL,NULL,NULL),(27625,'NCBI Gene PubMed Count',NULL,6462,NULL,NULL,NULL,12,NULL,NULL,NULL),(27626,'NCBI Gene Summary',NULL,6463,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27627,'NCBI Gene PubMed Count',NULL,6463,NULL,NULL,NULL,519,NULL,NULL,NULL),(27628,'NCBI Gene Summary',NULL,6464,NULL,'The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(27629,'NCBI Gene PubMed Count',NULL,6464,NULL,NULL,NULL,322,NULL,NULL,NULL),(27630,'NCBI Gene Summary',NULL,6465,NULL,'This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3\' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(27631,'NCBI Gene PubMed Count',NULL,6465,NULL,NULL,NULL,52,NULL,NULL,NULL),(27632,'NCBI Gene Summary',NULL,6466,NULL,'FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27633,'NCBI Gene PubMed Count',NULL,6466,NULL,NULL,NULL,9,NULL,NULL,NULL),(27634,'NCBI Gene Summary',NULL,6467,NULL,'The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(27635,'NCBI Gene PubMed Count',NULL,6467,NULL,NULL,NULL,244,NULL,NULL,NULL),(27636,'NCBI Gene PubMed Count',NULL,6468,NULL,NULL,NULL,13,NULL,NULL,NULL),(27637,'NCBI Gene Summary',NULL,6469,NULL,'This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(27638,'NCBI Gene PubMed Count',NULL,6469,NULL,NULL,NULL,154,NULL,NULL,NULL),(27639,'NCBI Gene Summary',NULL,6470,NULL,'The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(27640,'NCBI Gene PubMed Count',NULL,6470,NULL,NULL,NULL,320,NULL,NULL,NULL),(27641,'NCBI Gene Summary',NULL,6471,NULL,'This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27642,'NCBI Gene PubMed Count',NULL,6471,NULL,NULL,NULL,8,NULL,NULL,NULL),(27643,'NCBI Gene Summary',NULL,6472,NULL,'This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(27644,'NCBI Gene PubMed Count',NULL,6472,NULL,NULL,NULL,20,NULL,NULL,NULL),(27645,'NCBI Gene Summary',NULL,6473,NULL,'This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(27646,'NCBI Gene PubMed Count',NULL,6473,NULL,NULL,NULL,31,NULL,NULL,NULL),(27647,'NCBI Gene Summary',NULL,6474,NULL,'This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27648,'NCBI Gene PubMed Count',NULL,6474,NULL,NULL,NULL,23,NULL,NULL,NULL),(27649,'NCBI Gene Summary',NULL,6475,NULL,'This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(27650,'NCBI Gene PubMed Count',NULL,6475,NULL,NULL,NULL,72,NULL,NULL,NULL),(27651,'NCBI Gene Summary',NULL,6476,NULL,'Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(27652,'NCBI Gene PubMed Count',NULL,6476,NULL,NULL,NULL,55,NULL,NULL,NULL),(27653,'NCBI Gene PubMed Count',NULL,6477,NULL,NULL,NULL,12,NULL,NULL,NULL),(27654,'NCBI Gene Summary',NULL,6478,NULL,'This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Many members of the forkhead box gene family, including members of subfamily P, have roles in mammalian oncogenesis. This gene may play a role in the development of tumors of the kidney and larynx. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27655,'NCBI Gene PubMed Count',NULL,6478,NULL,NULL,NULL,27,NULL,NULL,NULL),(27656,'NCBI Gene Summary',NULL,6479,NULL,'Members of the winged-helix/forkhead family of transcription factors, such as FOXN4, are characterized by a 110-amino acid DNA-binding domain that can fold into a variant of the helix-turn-helix motif consisting of 3 alpha helices flanked by 2 large loops or wings. These transcription factors are involved in a variety of biologic processes as key regulators in development and metabolism (Li et al., 2004 [PubMed 15363391]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27657,'NCBI Gene PubMed Count',NULL,6479,NULL,NULL,NULL,9,NULL,NULL,NULL),(27658,'NCBI Gene Summary',NULL,6480,NULL,'The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(27659,'NCBI Gene PubMed Count',NULL,6480,NULL,NULL,NULL,32,NULL,NULL,NULL),(27660,'NCBI Gene PubMed Count',NULL,6481,NULL,NULL,NULL,4,NULL,NULL,NULL),(27661,'NCBI Gene Summary',NULL,6482,NULL,'Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27662,'NCBI Gene PubMed Count',NULL,6482,NULL,NULL,NULL,65,NULL,NULL,NULL),(27663,'NCBI Gene PubMed Count',NULL,6483,NULL,NULL,NULL,12,NULL,NULL,NULL),(27664,'NCBI Gene PubMed Count',NULL,6484,NULL,NULL,NULL,2,NULL,NULL,NULL),(27665,'NCBI Gene Summary',NULL,6485,NULL,'The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27666,'NCBI Gene PubMed Count',NULL,6485,NULL,NULL,NULL,27,NULL,NULL,NULL),(27667,'NCBI Gene PubMed Count',NULL,6486,NULL,NULL,NULL,16,NULL,NULL,NULL),(27668,'NCBI Gene Summary',NULL,6487,NULL,'The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27669,'NCBI Gene PubMed Count',NULL,6487,NULL,NULL,NULL,22,NULL,NULL,NULL),(27670,'NCBI Gene Summary',NULL,6488,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27671,'NCBI Gene PubMed Count',NULL,6488,NULL,NULL,NULL,53,NULL,NULL,NULL),(27672,'NCBI Gene Summary',NULL,6489,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(27673,'NCBI Gene PubMed Count',NULL,6489,NULL,NULL,NULL,559,NULL,NULL,NULL),(27674,'NCBI Gene Summary',NULL,6490,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27675,'NCBI Gene PubMed Count',NULL,6490,NULL,NULL,NULL,78,NULL,NULL,NULL),(27676,'NCBI Gene Summary',NULL,6491,NULL,'This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(27677,'NCBI Gene PubMed Count',NULL,6491,NULL,NULL,NULL,27,NULL,NULL,NULL),(27678,'NCBI Gene Summary',NULL,6492,NULL,'The protein encoded by this gene is a tyrosine kinase and cell surface receptor for fibroblast growth factors. The encoded protein is involved in the regulation of several pathways, including cell proliferation, cell differentiation, cell migration, lipid metabolism, bile acid biosynthesis, vitamin D metabolism, glucose uptake, and phosphate homeostasis. This protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment, and a cytoplasmic tyrosine kinase domain. The extracellular portion interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(27679,'NCBI Gene PubMed Count',NULL,6492,NULL,NULL,NULL,205,NULL,NULL,NULL),(27680,'NCBI Gene PubMed Count',NULL,6493,NULL,NULL,NULL,15,NULL,NULL,NULL),(27681,'NCBI Gene Summary',NULL,6494,NULL,'The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(27682,'NCBI Gene PubMed Count',NULL,6494,NULL,NULL,NULL,22,NULL,NULL,NULL),(27683,'NCBI Gene Summary',NULL,6495,NULL,'The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(27684,'NCBI Gene PubMed Count',NULL,6495,NULL,NULL,NULL,90,NULL,NULL,NULL),(27685,'NCBI Gene Summary',NULL,6496,NULL,'This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27686,'NCBI Gene PubMed Count',NULL,6496,NULL,NULL,NULL,30,NULL,NULL,NULL),(27687,'NCBI Gene PubMed Count',NULL,6497,NULL,NULL,NULL,3,NULL,NULL,NULL),(27688,'NCBI Gene PubMed Count',NULL,6498,NULL,NULL,NULL,2,NULL,NULL,NULL),(27689,'NCBI Gene Summary',NULL,6499,NULL,'Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27690,'NCBI Gene PubMed Count',NULL,6499,NULL,NULL,NULL,83,NULL,NULL,NULL),(27691,'NCBI Gene Summary',NULL,6500,NULL,'A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way, fructosamines, are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of fructosamines which may result in deglycation. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(27692,'NCBI Gene PubMed Count',NULL,6500,NULL,NULL,NULL,26,NULL,NULL,NULL),(27693,'NCBI Gene Summary',NULL,6501,NULL,'Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(27694,'NCBI Gene PubMed Count',NULL,6501,NULL,NULL,NULL,36,NULL,NULL,NULL),(27695,'NCBI Gene Summary',NULL,6502,NULL,'This gene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the regulation of cellular metabolism and nutrient sensing by modulating the AMPK and target of rapamycin signaling pathways. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(27696,'NCBI Gene PubMed Count',NULL,6502,NULL,NULL,NULL,14,NULL,NULL,NULL),(27697,'NCBI Gene PubMed Count',NULL,6503,NULL,NULL,NULL,6,NULL,NULL,NULL),(27698,'NCBI Gene Summary',NULL,6504,NULL,'This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa.  This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27699,'NCBI Gene PubMed Count',NULL,6504,NULL,NULL,NULL,588,NULL,NULL,NULL),(27700,'NCBI Gene Summary',NULL,6505,NULL,'FABP4 encodes the fatty acid binding protein found in adipocytes.  Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27701,'NCBI Gene PubMed Count',NULL,6505,NULL,NULL,NULL,218,NULL,NULL,NULL),(27702,'NCBI Gene Summary',NULL,6506,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(27703,'NCBI Gene PubMed Count',NULL,6506,NULL,NULL,NULL,23,NULL,NULL,NULL),(27704,'NCBI Gene PubMed Count',NULL,6507,NULL,NULL,NULL,22,NULL,NULL,NULL),(27705,'NCBI Gene Summary',NULL,6508,NULL,'The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27706,'NCBI Gene PubMed Count',NULL,6508,NULL,NULL,NULL,33,NULL,NULL,NULL),(27707,'NCBI Gene Summary',NULL,6509,NULL,'This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(27708,'NCBI Gene PubMed Count',NULL,6509,NULL,NULL,NULL,43,NULL,NULL,NULL),(27709,'NCBI Gene PubMed Count',NULL,6510,NULL,NULL,NULL,1,NULL,NULL,NULL),(27710,'NCBI Gene Summary',NULL,6511,NULL,'This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27711,'NCBI Gene PubMed Count',NULL,6511,NULL,NULL,NULL,24,NULL,NULL,NULL),(27712,'NCBI Gene Summary',NULL,6512,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(27713,'NCBI Gene PubMed Count',NULL,6512,NULL,NULL,NULL,24,NULL,NULL,NULL),(27714,'NCBI Gene Summary',NULL,6513,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27715,'NCBI Gene PubMed Count',NULL,6513,NULL,NULL,NULL,20,NULL,NULL,NULL),(27716,'NCBI Gene Summary',NULL,6514,NULL,'Members of the F-box protein family, such as FBXO46, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27717,'NCBI Gene PubMed Count',NULL,6514,NULL,NULL,NULL,9,NULL,NULL,NULL),(27718,'NCBI Gene Summary',NULL,6515,NULL,'Members of the F-box protein family, such as FBXO27, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27719,'NCBI Gene PubMed Count',NULL,6515,NULL,NULL,NULL,9,NULL,NULL,NULL),(27720,'NCBI Gene Summary',NULL,6516,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(27721,'NCBI Gene PubMed Count',NULL,6516,NULL,NULL,NULL,200,NULL,NULL,NULL),(27722,'NCBI Gene Summary',NULL,6517,NULL,'Members of the F-box protein family, such as FBXO36, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27723,'NCBI Gene PubMed Count',NULL,6517,NULL,NULL,NULL,5,NULL,NULL,NULL),(27724,'NCBI Gene Summary',NULL,6518,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene\'s potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(27725,'NCBI Gene PubMed Count',NULL,6518,NULL,NULL,NULL,302,NULL,NULL,NULL),(27726,'NCBI Gene Summary',NULL,6519,NULL,'This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(27727,'NCBI Gene PubMed Count',NULL,6519,NULL,NULL,NULL,87,NULL,NULL,NULL),(27728,'NCBI Gene Summary',NULL,6520,NULL,'This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27729,'NCBI Gene PubMed Count',NULL,6520,NULL,NULL,NULL,289,NULL,NULL,NULL),(27730,'NCBI Gene Summary',NULL,6521,NULL,'This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(27731,'NCBI Gene PubMed Count',NULL,6521,NULL,NULL,NULL,78,NULL,NULL,NULL),(27732,'NCBI Gene Summary',NULL,6522,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5\' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(27733,'NCBI Gene PubMed Count',NULL,6522,NULL,NULL,NULL,31,NULL,NULL,NULL),(27734,'NCBI Gene Summary',NULL,6523,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27735,'NCBI Gene PubMed Count',NULL,6523,NULL,NULL,NULL,139,NULL,NULL,NULL),(27736,'NCBI Gene PubMed Count',NULL,6524,NULL,NULL,NULL,11,NULL,NULL,NULL),(27737,'NCBI Gene Summary',NULL,6525,NULL,'This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. This protein is thought to have a role in the assembly of extracellular membranes. Also, this gene is down-regulated during transformation of normal myoblasts to rhabdomyosarcoma cells and the encoded protein may function as a link between presenilin-2 and an intracellular signaling pathway. Multiple alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(27738,'NCBI Gene PubMed Count',NULL,6525,NULL,NULL,NULL,115,NULL,NULL,NULL),(27739,'NCBI Gene Summary',NULL,6526,NULL,'This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27740,'NCBI Gene PubMed Count',NULL,6526,NULL,NULL,NULL,41,NULL,NULL,NULL),(27741,'NCBI Gene Summary',NULL,6527,NULL,'The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Polymorphisms in this gene may be associated with susceptibility for migraine headaches. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(27742,'NCBI Gene PubMed Count',NULL,6527,NULL,NULL,NULL,40,NULL,NULL,NULL),(27743,'NCBI Gene Summary',NULL,6528,NULL,'Theis gene encodes a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. This protein is a secreted endocrine factor that functions as a major metabolic regulator. The encoded protein stimulates the uptake of glucose in adipose tissue. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(27744,'NCBI Gene PubMed Count',NULL,6528,NULL,NULL,NULL,243,NULL,NULL,NULL),(27745,'NCBI Gene Summary',NULL,6529,NULL,'This gene encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27746,'NCBI Gene PubMed Count',NULL,6529,NULL,NULL,NULL,29,NULL,NULL,NULL),(27747,'NCBI Gene PubMed Count',NULL,6530,NULL,NULL,NULL,4,NULL,NULL,NULL),(27748,'NCBI Gene Summary',NULL,6531,NULL,'FIBCD1 is a conserved type II transmembrane endocytic receptor that binds chitin and is located primarily in the intestinal brush border (Schlosser et al., 2009 [PubMed 19710473]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(27749,'NCBI Gene PubMed Count',NULL,6531,NULL,NULL,NULL,8,NULL,NULL,NULL),(27750,'NCBI Gene Summary',NULL,6532,NULL,'This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27751,'NCBI Gene PubMed Count',NULL,6532,NULL,NULL,NULL,11,NULL,NULL,NULL),(27752,'NCBI Gene Summary',NULL,6533,NULL,'This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(27753,'NCBI Gene PubMed Count',NULL,6533,NULL,NULL,NULL,7,NULL,NULL,NULL),(27754,'NCBI Gene Summary',NULL,6534,NULL,'This gene is a member of the immunoglobulin gene superfamily and encodes a receptor for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, and eosinophils, where it mediates immunologic responses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27755,'NCBI Gene PubMed Count',NULL,6534,NULL,NULL,NULL,72,NULL,NULL,NULL),(27756,'NCBI Gene Summary',NULL,6535,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(27757,'NCBI Gene PubMed Count',NULL,6535,NULL,NULL,NULL,10,NULL,NULL,NULL),(27758,'NCBI Gene Summary',NULL,6536,NULL,'The immunoglobulin epsilon receptor (IgE receptor) is the initiator of the allergic response. When two or more high-affinity IgE receptors are brought together by allergen-bound IgE molecules, mediators such as histamine that are responsible for allergy symptoms are released. This receptor is comprised of an alpha subunit, a beta subunit, and two gamma subunits. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(27759,'NCBI Gene PubMed Count',NULL,6536,NULL,NULL,NULL,129,NULL,NULL,NULL),(27760,'NCBI Gene Summary',NULL,6537,NULL,'This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(27761,'NCBI Gene PubMed Count',NULL,6537,NULL,NULL,NULL,10,NULL,NULL,NULL),(27762,'NCBI Gene Summary',NULL,6538,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27763,'NCBI Gene PubMed Count',NULL,6538,NULL,NULL,NULL,12,NULL,NULL,NULL),(27764,'NCBI Gene Summary',NULL,6539,NULL,'F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27765,'NCBI Gene PubMed Count',NULL,6539,NULL,NULL,NULL,21,NULL,NULL,NULL),(27766,'NCBI Gene Summary',NULL,6540,NULL,'This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27767,'NCBI Gene PubMed Count',NULL,6540,NULL,NULL,NULL,20,NULL,NULL,NULL),(27768,'NCBI Gene PubMed Count',NULL,6541,NULL,NULL,NULL,9,NULL,NULL,NULL),(27769,'NCBI Gene Summary',NULL,6542,NULL,'This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(27770,'NCBI Gene PubMed Count',NULL,6542,NULL,NULL,NULL,7,NULL,NULL,NULL),(27771,'NCBI Gene Summary',NULL,6543,NULL,'This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27772,'NCBI Gene PubMed Count',NULL,6543,NULL,NULL,NULL,23,NULL,NULL,NULL),(27773,'NCBI Gene PubMed Count',NULL,6544,NULL,NULL,NULL,23,NULL,NULL,NULL),(27774,'NCBI Gene Summary',NULL,6545,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5\' terminus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27775,'NCBI Gene PubMed Count',NULL,6545,NULL,NULL,NULL,15,NULL,NULL,NULL),(27776,'NCBI Gene Summary',NULL,6546,NULL,'This gene encodes a member of the immunoglobulin receptor superfamily and the Fc-receptor like family. This gene and several other Fc receptor-like gene members are clustered on the long arm of chromosome 1. The encoded protein is a single-pass type I membrane protein and contains 8 immunoglobulin-like C2-type domains. This gene is implicated in B cell development and lymphomagenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(27777,'NCBI Gene PubMed Count',NULL,6546,NULL,NULL,NULL,29,NULL,NULL,NULL),(27778,'NCBI Gene Summary',NULL,6547,NULL,'This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(27779,'NCBI Gene PubMed Count',NULL,6547,NULL,NULL,NULL,374,NULL,NULL,NULL),(27780,'NCBI Gene PubMed Count',NULL,6548,NULL,NULL,NULL,3,NULL,NULL,NULL),(27781,'NCBI Gene Summary',NULL,6549,NULL,'The protein encoded by this gene removes 5\' overhanging flaps in DNA repair and processes the 5\' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5\' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27782,'NCBI Gene PubMed Count',NULL,6549,NULL,NULL,NULL,161,NULL,NULL,NULL),(27783,'NCBI Gene Summary',NULL,6550,NULL,'This gene encodes a member of the fibroblast growth factor binding protein family. The encoded protein is a serum protein that is selectively secreted by cytotoxic lymphocytes and may be involved in cytotoxic lymphocyte-mediated immunity. An increase in the amount of gene product may be associated with atopic asthma and mild extrinsic asthma.[provided by RefSeq Staff, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(27784,'NCBI Gene PubMed Count',NULL,6550,NULL,NULL,NULL,11,NULL,NULL,NULL),(27785,'NCBI Gene Summary',NULL,6551,NULL,'The protein encoded by this gene is a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(27786,'NCBI Gene PubMed Count',NULL,6551,NULL,NULL,NULL,30,NULL,NULL,NULL),(27787,'NCBI Gene Summary',NULL,6552,NULL,'Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27788,'NCBI Gene PubMed Count',NULL,6552,NULL,NULL,NULL,24,NULL,NULL,NULL),(27789,'NCBI Gene Summary',NULL,6553,NULL,'This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27790,'NCBI Gene PubMed Count',NULL,6553,NULL,NULL,NULL,40,NULL,NULL,NULL),(27791,'NCBI Gene PubMed Count',NULL,6554,NULL,NULL,NULL,12,NULL,NULL,NULL),(27792,'NCBI Gene Summary',NULL,6555,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a testis/sperm-specific member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(27793,'NCBI Gene PubMed Count',NULL,6555,NULL,NULL,NULL,25,NULL,NULL,NULL),(27794,'NCBI Gene Summary',NULL,6556,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. The protein has antibacterial and antifungal antimicrobial activity. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(27795,'NCBI Gene PubMed Count',NULL,6556,NULL,NULL,NULL,20,NULL,NULL,NULL),(27796,'NCBI Gene Summary',NULL,6557,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(27797,'NCBI Gene PubMed Count',NULL,6557,NULL,NULL,NULL,21,NULL,NULL,NULL),(27798,'NCBI Gene Summary',NULL,6558,NULL,'This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27799,'NCBI Gene PubMed Count',NULL,6558,NULL,NULL,NULL,11,NULL,NULL,NULL),(27800,'NCBI Gene Summary',NULL,6559,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the H2B histone family. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(27801,'NCBI Gene PubMed Count',NULL,6559,NULL,NULL,NULL,5,NULL,NULL,NULL),(27802,'NCBI Gene Summary',NULL,6560,NULL,'This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(27803,'NCBI Gene PubMed Count',NULL,6560,NULL,NULL,NULL,13,NULL,NULL,NULL),(27804,'NCBI Gene PubMed Count',NULL,6561,NULL,NULL,NULL,1,NULL,NULL,NULL),(27805,'NCBI Gene Summary',NULL,6562,NULL,'This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27806,'NCBI Gene PubMed Count',NULL,6562,NULL,NULL,NULL,257,NULL,NULL,NULL),(27807,'NCBI Gene PubMed Count',NULL,6563,NULL,NULL,NULL,7,NULL,NULL,NULL),(27808,'NCBI Gene Summary',NULL,6564,NULL,'This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(27809,'NCBI Gene PubMed Count',NULL,6564,NULL,NULL,NULL,27,NULL,NULL,NULL),(27810,'NCBI Gene Summary',NULL,6565,NULL,'This gene encodes a member of the F-box protein family, which is characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one of the four subunits of the SCF ubiquitin protein ligase complex that plays a role in phosphorylation-dependent ubiquitination. F-box proteins are divided into three classes depending on the interaction substrate domain each contains in addition to the F-box motif: FBXW proteins contain WD-40 domains, FBXL proteins contain leucine-rich repeats, and FBXO proteins contain either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the FBXO class. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(27811,'NCBI Gene PubMed Count',NULL,6565,NULL,NULL,NULL,9,NULL,NULL,NULL),(27812,'NCBI Gene Summary',NULL,6566,NULL,'Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(27813,'NCBI Gene PubMed Count',NULL,6566,NULL,NULL,NULL,12,NULL,NULL,NULL),(27814,'NCBI Gene Summary',NULL,6567,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and, as a transcriptional target of the tumor protein p53, is thought to be involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(27815,'NCBI Gene PubMed Count',NULL,6567,NULL,NULL,NULL,20,NULL,NULL,NULL),(27816,'NCBI Gene Summary',NULL,6568,NULL,'Three distinct, but closely related classes of receptors that bind the Fc portion of IgG have been identified (Fcgamma RI, II and III). The FcgammaRI family consists of three closely related genes termed A, B, and C. This gene encodes the low affinity FcgammaRIB receptor that may play an important role in humoral immune response. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(27817,'NCBI Gene PubMed Count',NULL,6568,NULL,NULL,NULL,12,NULL,NULL,NULL),(27818,'NCBI Gene Summary',NULL,6569,NULL,'This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(27819,'NCBI Gene PubMed Count',NULL,6569,NULL,NULL,NULL,22,NULL,NULL,NULL),(27820,'NCBI Gene Summary',NULL,6570,NULL,'Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27821,'NCBI Gene PubMed Count',NULL,6570,NULL,NULL,NULL,11,NULL,NULL,NULL),(27822,'NCBI Gene Summary',NULL,6571,NULL,'Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27823,'NCBI Gene PubMed Count',NULL,6571,NULL,NULL,NULL,7,NULL,NULL,NULL),(27824,'NCBI Gene Summary',NULL,6572,NULL,'This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27825,'NCBI Gene PubMed Count',NULL,6572,NULL,NULL,NULL,33,NULL,NULL,NULL),(27826,'NCBI Gene Summary',NULL,6573,NULL,'This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27827,'NCBI Gene PubMed Count',NULL,6573,NULL,NULL,NULL,23,NULL,NULL,NULL),(27828,'NCBI Gene Summary',NULL,6574,NULL,'Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27829,'NCBI Gene PubMed Count',NULL,6574,NULL,NULL,NULL,16,NULL,NULL,NULL),(27830,'NCBI Gene Summary',NULL,6575,NULL,'This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains three extracellular C2-like immunoglobulin domains, a transmembrane domain and a cytoplasmic domain with two immunoreceptor-tyrosine activation motifs. This protein may play a role in the regulation of cancer cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(27831,'NCBI Gene PubMed Count',NULL,6575,NULL,NULL,NULL,18,NULL,NULL,NULL),(27832,'NCBI Gene Summary',NULL,6576,NULL,'The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is thought to function as an ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(27833,'NCBI Gene PubMed Count',NULL,6576,NULL,NULL,NULL,16,NULL,NULL,NULL),(27834,'NCBI Gene Summary',NULL,6577,NULL,'The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(27835,'NCBI Gene PubMed Count',NULL,6577,NULL,NULL,NULL,13,NULL,NULL,NULL),(27836,'NCBI Gene PubMed Count',NULL,6578,NULL,NULL,NULL,12,NULL,NULL,NULL),(27837,'NCBI Gene Summary',NULL,6579,NULL,'This gene encodes a fatty acid amide hydrolase that shares a conserved protein motif with the amidase signature family of enzymes. The encoded enzyme is able to catalyze the hydrolysis of a broad range of bioactive lipids, including those from the three main classes of fatty acid amides; N-acylethanolamines, fatty acid primary amides and N-acyl amino acids. This enzyme has a preference for monounsaturated acyl chains as a substrate. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(27838,'NCBI Gene PubMed Count',NULL,6579,NULL,NULL,NULL,7,NULL,NULL,NULL),(27839,'NCBI Gene PubMed Count',NULL,6580,NULL,NULL,NULL,3,NULL,NULL,NULL),(27840,'NCBI Gene Summary',NULL,6581,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Two transcripts that encode the same protein have been identified for this gene, which is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(27841,'NCBI Gene PubMed Count',NULL,6581,NULL,NULL,NULL,24,NULL,NULL,NULL),(27842,'NCBI Gene Summary',NULL,6582,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(27843,'NCBI Gene PubMed Count',NULL,6582,NULL,NULL,NULL,21,NULL,NULL,NULL),(27844,'NCBI Gene Summary',NULL,6583,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(27845,'NCBI Gene PubMed Count',NULL,6583,NULL,NULL,NULL,67,NULL,NULL,NULL),(27846,'NCBI Gene Summary',NULL,6584,NULL,'This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(27847,'NCBI Gene PubMed Count',NULL,6584,NULL,NULL,NULL,16,NULL,NULL,NULL),(27848,'NCBI Gene Summary',NULL,6585,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(27849,'NCBI Gene PubMed Count',NULL,6585,NULL,NULL,NULL,12,NULL,NULL,NULL),(27850,'NCBI Gene PubMed Count',NULL,6586,NULL,NULL,NULL,15,NULL,NULL,NULL),(27851,'NCBI Gene PubMed Count',NULL,6587,NULL,NULL,NULL,11,NULL,NULL,NULL),(27852,'NCBI Gene PubMed Count',NULL,6588,NULL,NULL,NULL,15,NULL,NULL,NULL),(27853,'NCBI Gene Summary',NULL,6589,NULL,'The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27854,'NCBI Gene PubMed Count',NULL,6589,NULL,NULL,NULL,42,NULL,NULL,NULL),(27855,'NCBI Gene Summary',NULL,6590,NULL,'This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27856,'NCBI Gene PubMed Count',NULL,6590,NULL,NULL,NULL,44,NULL,NULL,NULL),(27857,'NCBI Gene Summary',NULL,6591,NULL,'This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other other antibody-dependent responses. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27858,'NCBI Gene PubMed Count',NULL,6591,NULL,NULL,NULL,400,NULL,NULL,NULL),(27859,'NCBI Gene PubMed Count',NULL,6592,NULL,NULL,NULL,9,NULL,NULL,NULL),(27860,'NCBI Gene Summary',NULL,6593,NULL,'This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(27861,'NCBI Gene PubMed Count',NULL,6593,NULL,NULL,NULL,19,NULL,NULL,NULL),(27862,'NCBI Gene Summary',NULL,6594,NULL,'This gene encodes a small secreted protein that is expressed in follicular dendritic cells. This protein specifically binds to activated B cells, and functions as a regulator of antibody responses. It is also thought to contribute to tumor metastases by promoting cancer cell migration and invasion. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(27863,'NCBI Gene PubMed Count',NULL,6594,NULL,NULL,NULL,13,NULL,NULL,NULL),(27864,'NCBI Gene Summary',NULL,6595,NULL,'This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(27865,'NCBI Gene PubMed Count',NULL,6595,NULL,NULL,NULL,66,NULL,NULL,NULL),(27866,'NCBI Gene Summary',NULL,6596,NULL,'The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(27867,'NCBI Gene PubMed Count',NULL,6596,NULL,NULL,NULL,51,NULL,NULL,NULL),(27868,'NCBI Gene Summary',NULL,6597,NULL,'This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27869,'NCBI Gene PubMed Count',NULL,6597,NULL,NULL,NULL,139,NULL,NULL,NULL),(27870,'NCBI Gene PubMed Count',NULL,6598,NULL,NULL,NULL,6,NULL,NULL,NULL),(27871,'NCBI Gene Summary',NULL,6599,NULL,'This gene encodes a cytokine-like protein. The expression of this gene may be regulated by peroxisome proliferator-activated receptor gamma, and the encoded protein may be involved in the regulation of glucose and lipid metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(27872,'NCBI Gene PubMed Count',NULL,6599,NULL,NULL,NULL,18,NULL,NULL,NULL),(27873,'NCBI Gene PubMed Count',NULL,6600,NULL,NULL,NULL,9,NULL,NULL,NULL),(27874,'NCBI Gene Summary',NULL,6601,NULL,'The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase was shown to be activated rapidly during Fas-mediated apoptosis in Jurkat cells. In response to Fas receptor ligation, it phosphorylates TIA1, an apoptosis-promoting nuclear RNA-binding protein. The encoded protein is a strong inducer of lymphocyte apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Other variants exist, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27875,'NCBI Gene PubMed Count',NULL,6601,NULL,NULL,NULL,23,NULL,NULL,NULL),(27876,'NCBI Gene Summary',NULL,6602,NULL,'This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27877,'NCBI Gene PubMed Count',NULL,6602,NULL,NULL,NULL,58,NULL,NULL,NULL),(27878,'NCBI Gene Summary',NULL,6603,NULL,'Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27879,'NCBI Gene PubMed Count',NULL,6603,NULL,NULL,NULL,10,NULL,NULL,NULL),(27880,'NCBI Gene Summary',NULL,6604,NULL,'Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3\' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27881,'NCBI Gene PubMed Count',NULL,6604,NULL,NULL,NULL,99,NULL,NULL,NULL),(27882,'NCBI Gene Summary',NULL,6605,NULL,'This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(27883,'NCBI Gene PubMed Count',NULL,6605,NULL,NULL,NULL,108,NULL,NULL,NULL),(27884,'NCBI Gene Summary',NULL,6606,NULL,'Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(27885,'NCBI Gene PubMed Count',NULL,6606,NULL,NULL,NULL,10,NULL,NULL,NULL),(27886,'NCBI Gene Summary',NULL,6607,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(27887,'NCBI Gene PubMed Count',NULL,6607,NULL,NULL,NULL,29,NULL,NULL,NULL),(27888,'NCBI Gene Summary',NULL,6608,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(27889,'NCBI Gene PubMed Count',NULL,6608,NULL,NULL,NULL,49,NULL,NULL,NULL),(27890,'NCBI Gene Summary',NULL,6609,NULL,'The protein encoded by this gene is a low affinity receptor for the Fc region of gamma immunoglobulins (IgG). The encoded protein acts as a monomer and can bind either monomeric or aggregated IgG. This gene may function to capture immune complexes in the peripheral circulation. Several transcript variants encoding different isoforms have been found for this gene. A highly-similar gene encoding a related protein is also found on chromosome 1. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(27891,'NCBI Gene PubMed Count',NULL,6609,NULL,NULL,NULL,188,NULL,NULL,NULL),(27892,'NCBI Gene Summary',NULL,6610,NULL,'This gene encodes a protein that plays an important role in the immune response. This protein is a high-affinity Fc-gamma receptor. The gene is one of three related gene family members located on chromosome 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27893,'NCBI Gene PubMed Count',NULL,6610,NULL,NULL,NULL,137,NULL,NULL,NULL),(27894,'NCBI Gene PubMed Count',NULL,6611,NULL,NULL,NULL,9,NULL,NULL,NULL),(27895,'NCBI Gene Summary',NULL,6612,NULL,'The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(27896,'NCBI Gene PubMed Count',NULL,6612,NULL,NULL,NULL,278,NULL,NULL,NULL),(27897,'NCBI Gene Summary',NULL,6613,NULL,'This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(27898,'NCBI Gene PubMed Count',NULL,6613,NULL,NULL,NULL,29,NULL,NULL,NULL),(27899,'NCBI Gene PubMed Count',NULL,6614,NULL,NULL,NULL,13,NULL,NULL,NULL),(27900,'NCBI Gene PubMed Count',NULL,6615,NULL,NULL,NULL,8,NULL,NULL,NULL),(27901,'NCBI Gene Summary',NULL,6616,NULL,'This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(27902,'NCBI Gene PubMed Count',NULL,6616,NULL,NULL,NULL,81,NULL,NULL,NULL),(27903,'NCBI Gene Summary',NULL,6617,NULL,'This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(27904,'NCBI Gene PubMed Count',NULL,6617,NULL,NULL,NULL,19,NULL,NULL,NULL),(27905,'NCBI Gene Summary',NULL,6618,NULL,'This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(27906,'NCBI Gene PubMed Count',NULL,6618,NULL,NULL,NULL,482,NULL,NULL,NULL),(27907,'NCBI Gene Summary',NULL,6619,NULL,'This gene encodes a secreted fibroblast growth factor carrier protein. The encoded protein plays a critical role in cell proliferation, differentiation and migration by binding to fibroblast growth factors and potentiating their biological effects on target cells. The encoded protein may also play a role in tumor growth as an angiogenic switch molecule, and expression of this gene has been associated with several types of cancer including pancreatic and colorectal adenocarcinoma. A pseudogene of this gene is also located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(27908,'NCBI Gene PubMed Count',NULL,6619,NULL,NULL,NULL,28,NULL,NULL,NULL),(27909,'NCBI Gene Summary',NULL,6620,NULL,'This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27910,'NCBI Gene PubMed Count',NULL,6620,NULL,NULL,NULL,16,NULL,NULL,NULL),(27911,'NCBI Gene Summary',NULL,6621,NULL,'This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(27912,'NCBI Gene PubMed Count',NULL,6621,NULL,NULL,NULL,14,NULL,NULL,NULL),(27913,'NCBI Gene Summary',NULL,6622,NULL,'This gene encodes a member of the AAA ATPase family of proteins. The encoded protein is recruited to sites of DNA damage where it plays a role in DNA double-strand break repair via homologous recombination. This protein has also been shown to localize to the centrosome and inhibit ciliogenesis, and may regulate the proliferation and differentiation of osteoblasts. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(27914,'NCBI Gene PubMed Count',NULL,6622,NULL,NULL,NULL,16,NULL,NULL,NULL),(27915,'NCBI Gene Summary',NULL,6623,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27916,'NCBI Gene PubMed Count',NULL,6623,NULL,NULL,NULL,36,NULL,NULL,NULL),(27917,'NCBI Gene Summary',NULL,6624,NULL,'This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(27918,'NCBI Gene PubMed Count',NULL,6624,NULL,NULL,NULL,18,NULL,NULL,NULL),(27919,'NCBI Gene Summary',NULL,6625,NULL,'This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(27920,'NCBI Gene PubMed Count',NULL,6625,NULL,NULL,NULL,62,NULL,NULL,NULL),(27921,'NCBI Gene Summary',NULL,6626,NULL,'This gene encodes the fatty acid binding protein found in epidermal cells, and was first identified as being upregulated in psoriasis tissue. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs may play roles in fatty acid uptake, transport, and metabolism. Polymorphisms in this gene are associated with type 2 diabetes. The human genome contains many pseudogenes similar to this locus.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(27922,'NCBI Gene PubMed Count',NULL,6626,NULL,NULL,NULL,79,NULL,NULL,NULL),(27923,'NCBI Gene Summary',NULL,6627,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(27924,'NCBI Gene PubMed Count',NULL,6627,NULL,NULL,NULL,20,NULL,NULL,NULL),(27925,'NCBI Gene Summary',NULL,6628,NULL,'This gene encodes an integral membrane protein which is classified as a member of the metalloproteinase family.  This enzyme is thought to function in the maintenance and processing of CAAX-type prenylated proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27926,'NCBI Gene PubMed Count',NULL,6628,NULL,NULL,NULL,17,NULL,NULL,NULL),(27927,'NCBI Gene PubMed Count',NULL,6629,NULL,NULL,NULL,1,NULL,NULL,NULL),(27928,'NCBI Gene Summary',NULL,6630,NULL,'The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(27929,'NCBI Gene PubMed Count',NULL,6630,NULL,NULL,NULL,54,NULL,NULL,NULL),(27930,'NCBI Gene Summary',NULL,6631,NULL,'This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(27931,'NCBI Gene PubMed Count',NULL,6631,NULL,NULL,NULL,7,NULL,NULL,NULL),(27932,'NCBI Gene Summary',NULL,6632,NULL,'This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(27933,'NCBI Gene PubMed Count',NULL,6632,NULL,NULL,NULL,21,NULL,NULL,NULL),(27934,'NCBI Gene Summary',NULL,6633,NULL,'The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27935,'NCBI Gene PubMed Count',NULL,6633,NULL,NULL,NULL,125,NULL,NULL,NULL),(27936,'NCBI Gene Summary',NULL,6634,NULL,'The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27937,'NCBI Gene PubMed Count',NULL,6634,NULL,NULL,NULL,129,NULL,NULL,NULL),(27938,'NCBI Gene PubMed Count',NULL,6635,NULL,NULL,NULL,4,NULL,NULL,NULL),(27939,'NCBI Gene Summary',NULL,6636,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27940,'NCBI Gene PubMed Count',NULL,6636,NULL,NULL,NULL,11,NULL,NULL,NULL),(27941,'NCBI Gene Summary',NULL,6637,NULL,'This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27942,'NCBI Gene PubMed Count',NULL,6637,NULL,NULL,NULL,42,NULL,NULL,NULL),(27943,'NCBI Gene Summary',NULL,6638,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Several alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(27944,'NCBI Gene PubMed Count',NULL,6638,NULL,NULL,NULL,17,NULL,NULL,NULL),(27945,'NCBI Gene Summary',NULL,6639,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is highly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining neurons in a postmitotic state. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27946,'NCBI Gene PubMed Count',NULL,6639,NULL,NULL,NULL,24,NULL,NULL,NULL),(27947,'NCBI Gene Summary',NULL,6640,NULL,'This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(27948,'NCBI Gene PubMed Count',NULL,6640,NULL,NULL,NULL,30,NULL,NULL,NULL),(27949,'NCBI Gene Summary',NULL,6641,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27950,'NCBI Gene PubMed Count',NULL,6641,NULL,NULL,NULL,47,NULL,NULL,NULL),(27951,'NCBI Gene Summary',NULL,6642,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27952,'NCBI Gene PubMed Count',NULL,6642,NULL,NULL,NULL,57,NULL,NULL,NULL),(27953,'NCBI Gene Summary',NULL,6643,NULL,'Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27954,'NCBI Gene PubMed Count',NULL,6643,NULL,NULL,NULL,16,NULL,NULL,NULL),(27955,'NCBI Gene Summary',NULL,6644,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(27956,'NCBI Gene PubMed Count',NULL,6644,NULL,NULL,NULL,33,NULL,NULL,NULL),(27957,'NCBI Gene Summary',NULL,6645,NULL,'Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27958,'NCBI Gene PubMed Count',NULL,6645,NULL,NULL,NULL,9,NULL,NULL,NULL),(27959,'NCBI Gene Summary',NULL,6646,NULL,'The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(27960,'NCBI Gene PubMed Count',NULL,6646,NULL,NULL,NULL,121,NULL,NULL,NULL),(27961,'NCBI Gene PubMed Count',NULL,6647,NULL,NULL,NULL,4,NULL,NULL,NULL),(27962,'NCBI Gene Summary',NULL,6648,NULL,'This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(27963,'NCBI Gene PubMed Count',NULL,6648,NULL,NULL,NULL,45,NULL,NULL,NULL),(27964,'NCBI Gene Summary',NULL,6649,NULL,'The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27965,'NCBI Gene PubMed Count',NULL,6649,NULL,NULL,NULL,54,NULL,NULL,NULL),(27966,'NCBI Gene Summary',NULL,6650,NULL,'Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(27967,'NCBI Gene PubMed Count',NULL,6650,NULL,NULL,NULL,7,NULL,NULL,NULL),(27968,'NCBI Gene Summary',NULL,6651,NULL,'The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27969,'NCBI Gene PubMed Count',NULL,6651,NULL,NULL,NULL,96,NULL,NULL,NULL),(27970,'NCBI Gene Summary',NULL,6652,NULL,'This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(27971,'NCBI Gene PubMed Count',NULL,6652,NULL,NULL,NULL,10,NULL,NULL,NULL),(27972,'NCBI Gene PubMed Count',NULL,6653,NULL,NULL,NULL,21,NULL,NULL,NULL),(27973,'NCBI Gene Summary',NULL,6654,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27974,'NCBI Gene PubMed Count',NULL,6654,NULL,NULL,NULL,42,NULL,NULL,NULL),(27975,'NCBI Gene Summary',NULL,6655,NULL,'This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27976,'NCBI Gene PubMed Count',NULL,6655,NULL,NULL,NULL,144,NULL,NULL,NULL),(27977,'NCBI Gene Summary',NULL,6656,NULL,'This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27978,'NCBI Gene PubMed Count',NULL,6656,NULL,NULL,NULL,79,NULL,NULL,NULL),(27979,'NCBI Gene Summary',NULL,6657,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells. Studies of the similar proteins in mouse and chick suggested that this protein is a pleiotropic growth factor that stimulates proliferation in a number of tissues, most notably the liver and small intestine. Knockout studies of the similar gene in mice implied the role of this protein in regulating proliferation and differentiation of midline cerebellar structures. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27980,'NCBI Gene PubMed Count',NULL,6657,NULL,NULL,NULL,49,NULL,NULL,NULL),(27981,'NCBI Gene Summary',NULL,6658,NULL,'This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(27982,'NCBI Gene PubMed Count',NULL,6658,NULL,NULL,NULL,339,NULL,NULL,NULL),(27983,'NCBI Gene Summary',NULL,6659,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(27984,'NCBI Gene PubMed Count',NULL,6659,NULL,NULL,NULL,205,NULL,NULL,NULL),(27985,'NCBI Gene Summary',NULL,6660,NULL,'The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27986,'NCBI Gene PubMed Count',NULL,6660,NULL,NULL,NULL,99,NULL,NULL,NULL),(27987,'NCBI Gene PubMed Count',NULL,6661,NULL,NULL,NULL,26,NULL,NULL,NULL),(27988,'NCBI Gene PubMed Count',NULL,6662,NULL,NULL,NULL,27,NULL,NULL,NULL),(27989,'NCBI Gene Summary',NULL,6663,NULL,'FIT1 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]',NULL,NULL,NULL,NULL,NULL),(27990,'NCBI Gene PubMed Count',NULL,6663,NULL,NULL,NULL,3,NULL,NULL,NULL),(27991,'NCBI Gene Summary',NULL,6664,NULL,'The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(27992,'NCBI Gene PubMed Count',NULL,6664,NULL,NULL,NULL,7,NULL,NULL,NULL),(27993,'NCBI Gene PubMed Count',NULL,6665,NULL,NULL,NULL,10,NULL,NULL,NULL),(27994,'NCBI Gene Summary',NULL,6666,NULL,'HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(27995,'NCBI Gene PubMed Count',NULL,6666,NULL,NULL,NULL,18,NULL,NULL,NULL),(27996,'NCBI Gene Summary',NULL,6667,NULL,'This gene encodes a member of the HOMER family of postsynaptic density scaffolding proteins that share a similar domain structure consisting of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homology 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-oligomerization. The encoded protein binds numerous other proteins including group I metabotropic glutamate receptors, inositol 1,4,5-trisphosphate receptors and amyloid precursor proteins and has been implicated in diverse biological functions such as neuronal signaling, T-cell activation and trafficking of amyloid beta peptides. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(27997,'NCBI Gene PubMed Count',NULL,6667,NULL,NULL,NULL,28,NULL,NULL,NULL),(27998,'NCBI Gene PubMed Count',NULL,6668,NULL,NULL,NULL,15,NULL,NULL,NULL),(27999,'NCBI Gene Summary',NULL,6669,NULL,'This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(28000,'NCBI Gene PubMed Count',NULL,6669,NULL,NULL,NULL,47,NULL,NULL,NULL),(28001,'NCBI Gene Summary',NULL,6670,NULL,'Retinoids exert biologic effects such as potent growth inhibitory and cell differentiation activities and are used in the treatment of hyperproliferative dermatological diseases. These effects are mediated by specific nuclear receptor proteins that are members of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28002,'NCBI Gene PubMed Count',NULL,6670,NULL,NULL,NULL,40,NULL,NULL,NULL),(28003,'NCBI Gene PubMed Count',NULL,6671,NULL,NULL,NULL,6,NULL,NULL,NULL),(28004,'NCBI Gene PubMed Count',NULL,6672,NULL,NULL,NULL,17,NULL,NULL,NULL),(28005,'NCBI Gene Summary',NULL,6673,NULL,'This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein\'s effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(28006,'NCBI Gene PubMed Count',NULL,6673,NULL,NULL,NULL,85,NULL,NULL,NULL),(28007,'NCBI Gene PubMed Count',NULL,6674,NULL,NULL,NULL,1,NULL,NULL,NULL),(28008,'NCBI Gene PubMed Count',NULL,6675,NULL,NULL,NULL,55,NULL,NULL,NULL),(28009,'NCBI Gene PubMed Count',NULL,6676,NULL,NULL,NULL,14,NULL,NULL,NULL),(28010,'NCBI Gene Summary',NULL,6677,NULL,'This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(28011,'NCBI Gene PubMed Count',NULL,6677,NULL,NULL,NULL,456,NULL,NULL,NULL),(28012,'NCBI Gene Summary',NULL,6678,NULL,'In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28013,'NCBI Gene PubMed Count',NULL,6678,NULL,NULL,NULL,62,NULL,NULL,NULL),(28014,'NCBI Gene Summary',NULL,6679,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28015,'NCBI Gene PubMed Count',NULL,6679,NULL,NULL,NULL,29,NULL,NULL,NULL),(28016,'NCBI Gene Summary',NULL,6680,NULL,'In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28017,'NCBI Gene PubMed Count',NULL,6680,NULL,NULL,NULL,83,NULL,NULL,NULL),(28018,'NCBI Gene Summary',NULL,6681,NULL,'This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28019,'NCBI Gene PubMed Count',NULL,6681,NULL,NULL,NULL,34,NULL,NULL,NULL),(28020,'NCBI Gene Summary',NULL,6682,NULL,'In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28021,'NCBI Gene PubMed Count',NULL,6682,NULL,NULL,NULL,69,NULL,NULL,NULL),(28022,'NCBI Gene Summary',NULL,6683,NULL,'Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(28023,'NCBI Gene PubMed Count',NULL,6683,NULL,NULL,NULL,91,NULL,NULL,NULL),(28024,'NCBI Gene PubMed Count',NULL,6684,NULL,NULL,NULL,10,NULL,NULL,NULL),(28025,'NCBI Gene Summary',NULL,6685,NULL,'Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(28026,'NCBI Gene PubMed Count',NULL,6685,NULL,NULL,NULL,24,NULL,NULL,NULL),(28027,'NCBI Gene Summary',NULL,6686,NULL,'This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(28028,'NCBI Gene PubMed Count',NULL,6686,NULL,NULL,NULL,292,NULL,NULL,NULL),(28029,'NCBI Gene PubMed Count',NULL,6687,NULL,NULL,NULL,4,NULL,NULL,NULL),(28030,'NCBI Gene Summary',NULL,6688,NULL,'The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(28031,'NCBI Gene PubMed Count',NULL,6688,NULL,NULL,NULL,435,NULL,NULL,NULL),(28032,'NCBI Gene Summary',NULL,6689,NULL,'This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(28033,'NCBI Gene PubMed Count',NULL,6689,NULL,NULL,NULL,34,NULL,NULL,NULL),(28034,'NCBI Gene Summary',NULL,6690,NULL,'The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(28035,'NCBI Gene PubMed Count',NULL,6690,NULL,NULL,NULL,13,NULL,NULL,NULL),(28036,'NCBI Gene Summary',NULL,6691,NULL,'The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28037,'NCBI Gene PubMed Count',NULL,6691,NULL,NULL,NULL,20,NULL,NULL,NULL),(28038,'NCBI Gene PubMed Count',NULL,6692,NULL,NULL,NULL,5,NULL,NULL,NULL),(28039,'NCBI Gene Summary',NULL,6693,NULL,'The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(28040,'NCBI Gene PubMed Count',NULL,6693,NULL,NULL,NULL,29,NULL,NULL,NULL),(28041,'NCBI Gene Summary',NULL,6694,NULL,'The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(28042,'NCBI Gene PubMed Count',NULL,6694,NULL,NULL,NULL,19,NULL,NULL,NULL),(28043,'NCBI Gene Summary',NULL,6695,NULL,'This gene encodes a haptoglobin-related protein that binds hemoglobin as efficiently as haptoglobin. Unlike haptoglobin, plasma concentration of this protein is unaffected in patients with sickle cell anemia and extensive intravascular hemolysis, suggesting a difference in binding between haptoglobin-hemoglobin and haptoglobin-related protein-hemoglobin complexes to CD163, the hemoglobin scavenger receptor. This protein may also be a clinically important predictor of recurrence of breast cancer. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(28044,'NCBI Gene PubMed Count',NULL,6695,NULL,NULL,NULL,34,NULL,NULL,NULL),(28045,'NCBI Gene Summary',NULL,6696,NULL,'Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28046,'NCBI Gene PubMed Count',NULL,6696,NULL,NULL,NULL,19,NULL,NULL,NULL),(28047,'NCBI Gene Summary',NULL,6697,NULL,'The protein encoded by this gene is heat shock inducible and may act as a chaperone. The encoded protein can protect the heat-shocked cell against the harmful effects of aggregated proteins. This gene is highly expressed in leukemia cells and may be a good target for therapeutic intervention. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(28048,'NCBI Gene PubMed Count',NULL,6697,NULL,NULL,NULL,19,NULL,NULL,NULL),(28049,'NCBI Gene Summary',NULL,6698,NULL,'HSP90 proteins are highly conserved molecular chaperones that have key roles in signal transduction, protein folding, protein degradation, and morphologic evolution. HSP90 proteins normally associate with other cochaperones and play important roles in folding newly synthesized proteins or stabilizing and refolding denatured proteins after stress. HSP90AA2 is a cytosolic HSP90 protein. Other HSP90 proteins are found in endoplasmic reticulum (HSP90B1; MIM 191175) and mitochondria (TRAP1; MIM 606219) (Chen et al., 2005 [PubMed 16269234]). See HSP90AA1 (MIM 140571) for further information on HSP90 proteins.[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(28050,'NCBI Gene PubMed Count',NULL,6698,NULL,NULL,NULL,28,NULL,NULL,NULL),(28051,'NCBI Gene Summary',NULL,6699,NULL,'This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28052,'NCBI Gene PubMed Count',NULL,6699,NULL,NULL,NULL,11,NULL,NULL,NULL),(28053,'NCBI Gene PubMed Count',NULL,6700,NULL,NULL,NULL,1,NULL,NULL,NULL),(28054,'NCBI Gene PubMed Count',NULL,6701,NULL,NULL,NULL,2,NULL,NULL,NULL),(28055,'NCBI Gene PubMed Count',NULL,6702,NULL,NULL,NULL,2,NULL,NULL,NULL),(28056,'NCBI Gene PubMed Count',NULL,6703,NULL,NULL,NULL,17,NULL,NULL,NULL),(28057,'NCBI Gene PubMed Count',NULL,6704,NULL,NULL,NULL,6,NULL,NULL,NULL),(28058,'NCBI Gene PubMed Count',NULL,6705,NULL,NULL,NULL,3,NULL,NULL,NULL),(28059,'NCBI Gene Summary',NULL,6706,NULL,'This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(28060,'NCBI Gene PubMed Count',NULL,6706,NULL,NULL,NULL,84,NULL,NULL,NULL),(28061,'NCBI Gene Summary',NULL,6707,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5\' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28062,'NCBI Gene PubMed Count',NULL,6707,NULL,NULL,NULL,29,NULL,NULL,NULL),(28063,'NCBI Gene Summary',NULL,6708,NULL,'Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(28064,'NCBI Gene PubMed Count',NULL,6708,NULL,NULL,NULL,353,NULL,NULL,NULL),(28065,'NCBI Gene Summary',NULL,6709,NULL,'This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(28066,'NCBI Gene PubMed Count',NULL,6709,NULL,NULL,NULL,14,NULL,NULL,NULL),(28067,'NCBI Gene Summary',NULL,6710,NULL,'The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28068,'NCBI Gene PubMed Count',NULL,6710,NULL,NULL,NULL,57,NULL,NULL,NULL),(28069,'NCBI Gene Summary',NULL,6711,NULL,'The protein encoded by this gene is highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 proteins. This encoded protein may be involved in the calcium-dependent regulation of rhodopsin phosphorylation. The transcript of this gene has multiple polyadenylation sites. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(28070,'NCBI Gene PubMed Count',NULL,6711,NULL,NULL,NULL,15,NULL,NULL,NULL),(28071,'NCBI Gene Summary',NULL,6712,NULL,'This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(28072,'NCBI Gene PubMed Count',NULL,6712,NULL,NULL,NULL,64,NULL,NULL,NULL),(28073,'NCBI Gene PubMed Count',NULL,6713,NULL,NULL,NULL,42,NULL,NULL,NULL),(28074,'NCBI Gene Summary',NULL,6714,NULL,'This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(28075,'NCBI Gene PubMed Count',NULL,6714,NULL,NULL,NULL,32,NULL,NULL,NULL),(28076,'NCBI Gene Summary',NULL,6715,NULL,'This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(28077,'NCBI Gene PubMed Count',NULL,6715,NULL,NULL,NULL,38,NULL,NULL,NULL),(28078,'NCBI Gene PubMed Count',NULL,6716,NULL,NULL,NULL,8,NULL,NULL,NULL),(28079,'NCBI Gene Summary',NULL,6717,NULL,'The protein encoded by this gene has both phospholipase and acyltransferase activities and acts as a tumor suppressor. The encoded protein can hydrolyze dipalmitoylated phosphatidylcholine (PC) to palmitic acid and lyso-PC. In addition, this protein can catalyze the N-acylation of phosphatidylethanolamine and can catalyze the O-acylation of lyso-PC to form PC. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(28080,'NCBI Gene PubMed Count',NULL,6717,NULL,NULL,NULL,6,NULL,NULL,NULL),(28081,'NCBI Gene Summary',NULL,6718,NULL,'This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28082,'NCBI Gene PubMed Count',NULL,6718,NULL,NULL,NULL,110,NULL,NULL,NULL),(28083,'NCBI Gene PubMed Count',NULL,6719,NULL,NULL,NULL,4,NULL,NULL,NULL),(28084,'NCBI Gene Summary',NULL,6720,NULL,'HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(28085,'NCBI Gene PubMed Count',NULL,6720,NULL,NULL,NULL,10,NULL,NULL,NULL),(28086,'NCBI Gene Summary',NULL,6721,NULL,'Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. It has been associated with multiple processes, including memory and learning, circadian rhythm, and thermoregulation. It is also known to contribute to the pathophysiology of allergic diseases such as atopic dermatitis, asthma, anaphylaxis and allergic rhinitis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(28087,'NCBI Gene PubMed Count',NULL,6721,NULL,NULL,NULL,100,NULL,NULL,NULL),(28088,'NCBI Gene PubMed Count',NULL,6722,NULL,NULL,NULL,73,NULL,NULL,NULL),(28089,'NCBI Gene Summary',NULL,6723,NULL,'This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(28090,'NCBI Gene PubMed Count',NULL,6723,NULL,NULL,NULL,11,NULL,NULL,NULL),(28091,'NCBI Gene Summary',NULL,6724,NULL,'This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(28092,'NCBI Gene PubMed Count',NULL,6724,NULL,NULL,NULL,42,NULL,NULL,NULL),(28093,'NCBI Gene Summary',NULL,6725,NULL,'The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28094,'NCBI Gene PubMed Count',NULL,6725,NULL,NULL,NULL,98,NULL,NULL,NULL),(28095,'NCBI Gene Summary',NULL,6726,NULL,'The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(28096,'NCBI Gene PubMed Count',NULL,6726,NULL,NULL,NULL,61,NULL,NULL,NULL),(28097,'NCBI Gene PubMed Count',NULL,6727,NULL,NULL,NULL,2,NULL,NULL,NULL),(28098,'NCBI Gene PubMed Count',NULL,6728,NULL,NULL,NULL,5,NULL,NULL,NULL),(28099,'NCBI Gene Summary',NULL,6729,NULL,'IGHV3-23 belongs to a cluster of approximately 40 functional variable (V) genes in the immunoglobulin (Ig) heavy chain locus on chromosome 14. For background information on the Ig heavy chain and the V gene cluster, see (MIM 147070).[supplied by OMIM, Apr 2008]',NULL,NULL,NULL,NULL,NULL),(28100,'NCBI Gene PubMed Count',NULL,6729,NULL,NULL,NULL,15,NULL,NULL,NULL),(28101,'NCBI Gene PubMed Count',NULL,6730,NULL,NULL,NULL,3,NULL,NULL,NULL),(28102,'NCBI Gene Summary',NULL,6731,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5\' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28103,'NCBI Gene PubMed Count',NULL,6731,NULL,NULL,NULL,62,NULL,NULL,NULL),(28104,'NCBI Gene PubMed Count',NULL,6732,NULL,NULL,NULL,7,NULL,NULL,NULL),(28105,'NCBI Gene PubMed Count',NULL,6733,NULL,NULL,NULL,2,NULL,NULL,NULL),(28106,'NCBI Gene PubMed Count',NULL,6734,NULL,NULL,NULL,3,NULL,NULL,NULL),(28107,'NCBI Gene PubMed Count',NULL,6735,NULL,NULL,NULL,4,NULL,NULL,NULL),(28108,'NCBI Gene Summary',NULL,6736,NULL,'The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(28109,'NCBI Gene PubMed Count',NULL,6736,NULL,NULL,NULL,21,NULL,NULL,NULL),(28110,'NCBI Gene Summary',NULL,6737,NULL,'The product of this gene is a transcription factor that is rapidly induced after temperature stress and binds heat shock promoter elements (HSE). This protein plays a role in the regulation of lifespan. Expression of this gene is repressed by phosphorylation, which promotes binding by heat shock protein 90. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(28111,'NCBI Gene PubMed Count',NULL,6737,NULL,NULL,NULL,293,NULL,NULL,NULL),(28112,'NCBI Gene Summary',NULL,6738,NULL,'The protein encoded by this gene is a member of the heat shock protein 70 family and is found associated with microsomes. Members of this protein family play a role in the processing of cytosolic and secretory proteins, as well as in the removal of denatured or incorrectly-folded proteins. The encoded protein contains an ATPase domain and has been shown to associate with a ubiquitin-like protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28113,'NCBI Gene PubMed Count',NULL,6738,NULL,NULL,NULL,21,NULL,NULL,NULL),(28114,'NCBI Gene PubMed Count',NULL,6739,NULL,NULL,NULL,62,NULL,NULL,NULL),(28115,'NCBI Gene Summary',NULL,6740,NULL,'The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this protein, as compared to the HUS1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28116,'NCBI Gene PubMed Count',NULL,6740,NULL,NULL,NULL,11,NULL,NULL,NULL),(28117,'NCBI Gene PubMed Count',NULL,6741,NULL,NULL,NULL,34,NULL,NULL,NULL),(28118,'NCBI Gene PubMed Count',NULL,6742,NULL,NULL,NULL,5,NULL,NULL,NULL),(28119,'NCBI Gene PubMed Count',NULL,6743,NULL,NULL,NULL,5,NULL,NULL,NULL),(28120,'NCBI Gene PubMed Count',NULL,6744,NULL,NULL,NULL,6,NULL,NULL,NULL),(28121,'NCBI Gene PubMed Count',NULL,6745,NULL,NULL,NULL,3,NULL,NULL,NULL),(28122,'NCBI Gene PubMed Count',NULL,6746,NULL,NULL,NULL,3,NULL,NULL,NULL),(28123,'NCBI Gene PubMed Count',NULL,6747,NULL,NULL,NULL,3,NULL,NULL,NULL),(28124,'NCBI Gene PubMed Count',NULL,6748,NULL,NULL,NULL,4,NULL,NULL,NULL),(28125,'NCBI Gene PubMed Count',NULL,6749,NULL,NULL,NULL,7,NULL,NULL,NULL),(28126,'NCBI Gene Summary',NULL,6750,NULL,'This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28127,'NCBI Gene PubMed Count',NULL,6750,NULL,NULL,NULL,33,NULL,NULL,NULL),(28128,'NCBI Gene PubMed Count',NULL,6751,NULL,NULL,NULL,3,NULL,NULL,NULL),(28129,'NCBI Gene Summary',NULL,6752,NULL,'This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Intracellular or ectopic expression of this protein expands hematopoietic stem and progenitor cells in vivo and in vitro, making it a potential candidate for therapeutic stem cell expansion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28130,'NCBI Gene PubMed Count',NULL,6752,NULL,NULL,NULL,60,NULL,NULL,NULL),(28131,'NCBI Gene Summary',NULL,6753,NULL,'This gene encodes a protein shown to interact with huntingtin, which contains an expanded polyglutamine tract in individuals with Huntington\'s disease (PMID: 9700202). [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(28132,'NCBI Gene PubMed Count',NULL,6753,NULL,NULL,NULL,5,NULL,NULL,NULL),(28133,'NCBI Gene Summary',NULL,6754,NULL,'This gene encodes a member of the type II cytokine receptor family. The encoded protein is a subunit of the receptor for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 receptor is a heterodimeric complex consisting of the encoded protein and interleukin 20 receptor beta. This gene and interleukin 20 receptor beta are highly expressed in skin, and are upregulated in psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(28134,'NCBI Gene PubMed Count',NULL,6754,NULL,NULL,NULL,27,NULL,NULL,NULL),(28135,'NCBI Gene Summary',NULL,6755,NULL,'This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(28136,'NCBI Gene PubMed Count',NULL,6755,NULL,NULL,NULL,27,NULL,NULL,NULL),(28137,'NCBI Gene Summary',NULL,6756,NULL,'Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 receptor, which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an immunoglobulin-like domain and a cytokine receptor-like domain. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(28138,'NCBI Gene PubMed Count',NULL,6756,NULL,NULL,NULL,47,NULL,NULL,NULL),(28139,'NCBI Gene Summary',NULL,6757,NULL,'The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(28140,'NCBI Gene PubMed Count',NULL,6757,NULL,NULL,NULL,105,NULL,NULL,NULL),(28141,'NCBI Gene Summary',NULL,6758,NULL,'The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn\'s disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(28142,'NCBI Gene PubMed Count',NULL,6758,NULL,NULL,NULL,88,NULL,NULL,NULL),(28143,'NCBI Gene Summary',NULL,6759,NULL,'The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28144,'NCBI Gene PubMed Count',NULL,6759,NULL,NULL,NULL,57,NULL,NULL,NULL),(28145,'NCBI Gene Summary',NULL,6760,NULL,'This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a minor histocompatibility antigen. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(28146,'NCBI Gene PubMed Count',NULL,6760,NULL,NULL,NULL,3,NULL,NULL,NULL),(28147,'NCBI Gene PubMed Count',NULL,6761,NULL,NULL,NULL,42,NULL,NULL,NULL),(28148,'NCBI Gene Summary',NULL,6762,NULL,'This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28149,'NCBI Gene PubMed Count',NULL,6762,NULL,NULL,NULL,187,NULL,NULL,NULL),(28150,'NCBI Gene Summary',NULL,6763,NULL,'This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(28151,'NCBI Gene PubMed Count',NULL,6763,NULL,NULL,NULL,21,NULL,NULL,NULL),(28152,'NCBI Gene PubMed Count',NULL,6764,NULL,NULL,NULL,16,NULL,NULL,NULL),(28153,'NCBI Gene PubMed Count',NULL,6765,NULL,NULL,NULL,11,NULL,NULL,NULL),(28154,'NCBI Gene Summary',NULL,6766,NULL,'Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28155,'NCBI Gene PubMed Count',NULL,6766,NULL,NULL,NULL,17,NULL,NULL,NULL),(28156,'NCBI Gene PubMed Count',NULL,6767,NULL,NULL,NULL,300,NULL,NULL,NULL),(28157,'NCBI Gene PubMed Count',NULL,6768,NULL,NULL,NULL,1,NULL,NULL,NULL),(28158,'NCBI Gene PubMed Count',NULL,6769,NULL,NULL,NULL,16,NULL,NULL,NULL),(28159,'NCBI Gene PubMed Count',NULL,6770,NULL,NULL,NULL,8,NULL,NULL,NULL),(28160,'NCBI Gene Summary',NULL,6771,NULL,'This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5\' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28161,'NCBI Gene PubMed Count',NULL,6771,NULL,NULL,NULL,35,NULL,NULL,NULL),(28162,'NCBI Gene Summary',NULL,6772,NULL,'This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28163,'NCBI Gene PubMed Count',NULL,6772,NULL,NULL,NULL,38,NULL,NULL,NULL),(28164,'NCBI Gene PubMed Count',NULL,6773,NULL,NULL,NULL,4,NULL,NULL,NULL),(28165,'NCBI Gene Summary',NULL,6774,NULL,'This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of melanoma and ovarian carcinoma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28166,'NCBI Gene PubMed Count',NULL,6774,NULL,NULL,NULL,86,NULL,NULL,NULL),(28167,'NCBI Gene Summary',NULL,6775,NULL,'In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28168,'NCBI Gene PubMed Count',NULL,6775,NULL,NULL,NULL,64,NULL,NULL,NULL),(28169,'NCBI Gene PubMed Count',NULL,6776,NULL,NULL,NULL,10,NULL,NULL,NULL),(28170,'NCBI Gene PubMed Count',NULL,6777,NULL,NULL,NULL,1,NULL,NULL,NULL),(28171,'NCBI Gene PubMed Count',NULL,6778,NULL,NULL,NULL,4,NULL,NULL,NULL),(28172,'NCBI Gene Summary',NULL,6779,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5\' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28173,'NCBI Gene PubMed Count',NULL,6779,NULL,NULL,NULL,32,NULL,NULL,NULL),(28174,'NCBI Gene PubMed Count',NULL,6780,NULL,NULL,NULL,3,NULL,NULL,NULL),(28175,'NCBI Gene Summary',NULL,6781,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28176,'NCBI Gene PubMed Count',NULL,6781,NULL,NULL,NULL,16,NULL,NULL,NULL),(28177,'NCBI Gene PubMed Count',NULL,6782,NULL,NULL,NULL,3,NULL,NULL,NULL),(28178,'NCBI Gene Summary',NULL,6783,NULL,'This gene encodes a 3\'-5\' exoribonuclease that may be involved in the processing of the 12S pre-rRNA. Pseudogenes have been identified on chromosomes 6 and 11. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(28179,'NCBI Gene PubMed Count',NULL,6783,NULL,NULL,NULL,12,NULL,NULL,NULL),(28180,'NCBI Gene Summary',NULL,6784,NULL,'This gene encodes a transmembrane protein that functions as the receptor for interleukin-17C. The encoded protein signals to downstream components of the mitogen activated protein kinase (MAPK) pathway. Activity of this protein is important in the immune response to bacterial pathogens. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(28181,'NCBI Gene PubMed Count',NULL,6784,NULL,NULL,NULL,13,NULL,NULL,NULL),(28182,'NCBI Gene Summary',NULL,6785,NULL,'The protein encoded by this gene functions as an inhibitor of the proinflammatory cytokine, IL18. It binds IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production, resulting in reduced T-helper type 1 immune responses. This protein is constitutively expressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohn\'s disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(28183,'NCBI Gene PubMed Count',NULL,6785,NULL,NULL,NULL,59,NULL,NULL,NULL),(28184,'NCBI Gene Summary',NULL,6786,NULL,'This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(28185,'NCBI Gene PubMed Count',NULL,6786,NULL,NULL,NULL,15,NULL,NULL,NULL),(28186,'NCBI Gene Summary',NULL,6787,NULL,'The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(28187,'NCBI Gene PubMed Count',NULL,6787,NULL,NULL,NULL,40,NULL,NULL,NULL),(28188,'NCBI Gene Summary',NULL,6788,NULL,'The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28189,'NCBI Gene PubMed Count',NULL,6788,NULL,NULL,NULL,17,NULL,NULL,NULL),(28190,'NCBI Gene Summary',NULL,6789,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(28191,'NCBI Gene PubMed Count',NULL,6789,NULL,NULL,NULL,20,NULL,NULL,NULL),(28192,'NCBI Gene Summary',NULL,6790,NULL,'This gene encodes a protein that binds the 5\' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(28193,'NCBI Gene PubMed Count',NULL,6790,NULL,NULL,NULL,154,NULL,NULL,NULL),(28194,'NCBI Gene Summary',NULL,6791,NULL,'This gene is located on the non-recombining region of the Y chromosome. It encodes a protein related to eukaryotic translation initiation factor 1A (EIF1A), which may function in stabilizing the binding of the initiator Met-tRNA to 40S ribosomal subunits. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(28195,'NCBI Gene PubMed Count',NULL,6791,NULL,NULL,NULL,20,NULL,NULL,NULL),(28196,'NCBI Gene Summary',NULL,6792,NULL,'This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28197,'NCBI Gene PubMed Count',NULL,6792,NULL,NULL,NULL,100,NULL,NULL,NULL),(28198,'NCBI Gene PubMed Count',NULL,6793,NULL,NULL,NULL,10,NULL,NULL,NULL),(28199,'NCBI Gene PubMed Count',NULL,6794,NULL,NULL,NULL,1,NULL,NULL,NULL),(28200,'NCBI Gene Summary',NULL,6795,NULL,'This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs. This protein also constitutes a monomer of the N-acetylglucosamine-specific receptor which is postulated to trigger selective recycling of immature GlcNAc-bearing thyroglobulin molecules. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(28201,'NCBI Gene PubMed Count',NULL,6795,NULL,NULL,NULL,53,NULL,NULL,NULL),(28202,'NCBI Gene Summary',NULL,6796,NULL,'This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(28203,'NCBI Gene PubMed Count',NULL,6796,NULL,NULL,NULL,56,NULL,NULL,NULL),(28204,'NCBI Gene Summary',NULL,6797,NULL,'This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28205,'NCBI Gene PubMed Count',NULL,6797,NULL,NULL,NULL,20,NULL,NULL,NULL),(28206,'NCBI Gene Summary',NULL,6798,NULL,'This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(28207,'NCBI Gene PubMed Count',NULL,6798,NULL,NULL,NULL,95,NULL,NULL,NULL),(28208,'NCBI Gene PubMed Count',NULL,6799,NULL,NULL,NULL,1,NULL,NULL,NULL),(28209,'NCBI Gene PubMed Count',NULL,6800,NULL,NULL,NULL,10,NULL,NULL,NULL),(28210,'NCBI Gene PubMed Count',NULL,6801,NULL,NULL,NULL,2,NULL,NULL,NULL),(28211,'NCBI Gene PubMed Count',NULL,6802,NULL,NULL,NULL,3,NULL,NULL,NULL),(28212,'NCBI Gene PubMed Count',NULL,6803,NULL,NULL,NULL,3,NULL,NULL,NULL),(28213,'NCBI Gene Summary',NULL,6804,NULL,'The protein encoded by this gene catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downstream products of this catabolism is glyoxylate, which in people with disorders of glyoxalate metabolism can lead to an increase in oxalate levels and the formation of calcium-oxalate kidney stones. Therefore, this gene may serve as a therapeutic target against primary hyperoxalurias (PH). This gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme that catalyzes the first step in proline catabolism. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(28214,'NCBI Gene PubMed Count',NULL,6804,NULL,NULL,NULL,6,NULL,NULL,NULL),(28215,'NCBI Gene Summary',NULL,6805,NULL,'This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28216,'NCBI Gene PubMed Count',NULL,6805,NULL,NULL,NULL,19,NULL,NULL,NULL),(28217,'NCBI Gene Summary',NULL,6806,NULL,'This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(28218,'NCBI Gene PubMed Count',NULL,6806,NULL,NULL,NULL,102,NULL,NULL,NULL),(28219,'NCBI Gene Summary',NULL,6807,NULL,'This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(28220,'NCBI Gene PubMed Count',NULL,6807,NULL,NULL,NULL,120,NULL,NULL,NULL),(28221,'NCBI Gene PubMed Count',NULL,6808,NULL,NULL,NULL,6,NULL,NULL,NULL),(28222,'NCBI Gene Summary',NULL,6809,NULL,'This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, and in B cells this same process facilitates antibody production. This same channel protein, however, can also regulate functions in other cells including spermatozoa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(28223,'NCBI Gene PubMed Count',NULL,6809,NULL,NULL,NULL,46,NULL,NULL,NULL),(28224,'NCBI Gene PubMed Count',NULL,6810,NULL,NULL,NULL,2,NULL,NULL,NULL),(28225,'NCBI Gene Summary',NULL,6811,NULL,'In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28226,'NCBI Gene PubMed Count',NULL,6811,NULL,NULL,NULL,34,NULL,NULL,NULL),(28227,'NCBI Gene PubMed Count',NULL,6812,NULL,NULL,NULL,10,NULL,NULL,NULL),(28228,'NCBI Gene PubMed Count',NULL,6813,NULL,NULL,NULL,5,NULL,NULL,NULL),(28229,'NCBI Gene Summary',NULL,6814,NULL,'This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of leukemia, prostate cancer and lung cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28230,'NCBI Gene PubMed Count',NULL,6814,NULL,NULL,NULL,55,NULL,NULL,NULL),(28231,'NCBI Gene Summary',NULL,6815,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28232,'NCBI Gene PubMed Count',NULL,6815,NULL,NULL,NULL,21,NULL,NULL,NULL),(28233,'NCBI Gene Summary',NULL,6816,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5\' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28234,'NCBI Gene PubMed Count',NULL,6816,NULL,NULL,NULL,21,NULL,NULL,NULL),(28235,'NCBI Gene PubMed Count',NULL,6817,NULL,NULL,NULL,4,NULL,NULL,NULL),(28236,'NCBI Gene PubMed Count',NULL,6818,NULL,NULL,NULL,12,NULL,NULL,NULL),(28237,'NCBI Gene PubMed Count',NULL,6819,NULL,NULL,NULL,1,NULL,NULL,NULL),(28238,'NCBI Gene Summary',NULL,6820,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28239,'NCBI Gene PubMed Count',NULL,6820,NULL,NULL,NULL,37,NULL,NULL,NULL),(28240,'NCBI Gene Summary',NULL,6821,NULL,'This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28241,'NCBI Gene PubMed Count',NULL,6821,NULL,NULL,NULL,42,NULL,NULL,NULL),(28242,'NCBI Gene PubMed Count',NULL,6822,NULL,NULL,NULL,22,NULL,NULL,NULL),(28243,'NCBI Gene PubMed Count',NULL,6823,NULL,NULL,NULL,5,NULL,NULL,NULL),(28244,'NCBI Gene Summary',NULL,6824,NULL,'IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol.  It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28245,'NCBI Gene PubMed Count',NULL,6824,NULL,NULL,NULL,20,NULL,NULL,NULL),(28246,'NCBI Gene Summary',NULL,6825,NULL,'Accurate initiation of translation in eukaryotes is complex and requires many factors, some of which are composed of multiple subunits. The process is simpler in prokaryotes which have only three initiation factors (IF1, IF2, IF3). Two of these factors are conserved in eukaryotes: the homolog of IF1 is eIF1A and the homolog of IF2 is eIF5B. This gene encodes eIF5B. Factors eIF1A and eIF5B interact on the ribosome along with other initiation factors and GTP to position the initiation methionine tRNA on the start codon of the mRNA so that translation initiates accurately. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28247,'NCBI Gene PubMed Count',NULL,6825,NULL,NULL,NULL,27,NULL,NULL,NULL),(28248,'NCBI Gene Summary',NULL,6826,NULL,'Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-dependent isoform, a mitochondrial NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent isoform. This gene encodes a mitochondrial NADP(+)-dependent isoform. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28249,'NCBI Gene PubMed Count',NULL,6826,NULL,NULL,NULL,15,NULL,NULL,NULL),(28250,'NCBI Gene Summary',NULL,6827,NULL,'The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition of the mRNA cap and the ATP-dependent unwinding of 5\'-terminal secondary structure is catalyzed by factors in this complex. The subunit encoded by this gene is a large scaffolding protein that contains binding sites for other members of the EIF4F complex. A domain at its N-terminus can also interact with the poly(A)-binding protein, which may mediate the circularization of mRNA during translation. Alternative splicing results in multiple transcript variants, some of which are derived from alternative promoter usage. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(28251,'NCBI Gene PubMed Count',NULL,6827,NULL,NULL,NULL,169,NULL,NULL,NULL),(28252,'NCBI Gene Summary',NULL,6828,NULL,'Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple non-protein coding transcript variants and variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(28253,'NCBI Gene PubMed Count',NULL,6828,NULL,NULL,NULL,50,NULL,NULL,NULL),(28254,'NCBI Gene Summary',NULL,6829,NULL,'The protein encoded by this gene is thought to be part of the eIF4F protein complex, which is involved in mRNA cap recognition and transport of mRNAs to the ribosome. Interestingly, a microRNA (miR-520c-3p) has been found that negatively regulates synthesis of the encoded protein, and this leads to a global decrease in protein translation and cell proliferation. Therefore, this protein is a key component of the anti-tumor activity of miR-520c-3p. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(28255,'NCBI Gene PubMed Count',NULL,6829,NULL,NULL,NULL,26,NULL,NULL,NULL),(28256,'NCBI Gene Summary',NULL,6830,NULL,'This gene was first identified as one of the many genes induced by interferon. The encoded protein may play a critical role in the regulation of apoptosis. A minisatellite that consists of 26 repeats of a 12 nucleotide repeating element resembling the mammalian splice donor consensus sequence begins near the end of the second exon. Alternatively spliced transcript variants that encode different isoforms by using the two downstream repeat units as splice donor sites have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28257,'NCBI Gene PubMed Count',NULL,6830,NULL,NULL,NULL,27,NULL,NULL,NULL),(28258,'NCBI Gene Summary',NULL,6831,NULL,'This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(28259,'NCBI Gene PubMed Count',NULL,6831,NULL,NULL,NULL,11,NULL,NULL,NULL),(28260,'NCBI Gene Summary',NULL,6832,NULL,'The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(28261,'NCBI Gene PubMed Count',NULL,6832,NULL,NULL,NULL,139,NULL,NULL,NULL),(28262,'NCBI Gene Summary',NULL,6833,NULL,'The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28263,'NCBI Gene PubMed Count',NULL,6833,NULL,NULL,NULL,82,NULL,NULL,NULL),(28264,'NCBI Gene Summary',NULL,6834,NULL,'This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(28265,'NCBI Gene PubMed Count',NULL,6834,NULL,NULL,NULL,94,NULL,NULL,NULL),(28266,'NCBI Gene Summary',NULL,6835,NULL,'One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(28267,'NCBI Gene PubMed Count',NULL,6835,NULL,NULL,NULL,16,NULL,NULL,NULL),(28268,'NCBI Gene Summary',NULL,6836,NULL,'This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28269,'NCBI Gene PubMed Count',NULL,6836,NULL,NULL,NULL,21,NULL,NULL,NULL),(28270,'NCBI Gene PubMed Count',NULL,6837,NULL,NULL,NULL,14,NULL,NULL,NULL),(28271,'NCBI Gene PubMed Count',NULL,6838,NULL,NULL,NULL,37,NULL,NULL,NULL),(28272,'NCBI Gene Summary',NULL,6839,NULL,'This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(28273,'NCBI Gene PubMed Count',NULL,6839,NULL,NULL,NULL,12,NULL,NULL,NULL),(28274,'NCBI Gene Summary',NULL,6840,NULL,'This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(28275,'NCBI Gene PubMed Count',NULL,6840,NULL,NULL,NULL,12,NULL,NULL,NULL),(28276,'NCBI Gene Summary',NULL,6841,NULL,'This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28277,'NCBI Gene PubMed Count',NULL,6841,NULL,NULL,NULL,247,NULL,NULL,NULL),(28278,'NCBI Gene PubMed Count',NULL,6842,NULL,NULL,NULL,2,NULL,NULL,NULL),(28279,'NCBI Gene PubMed Count',NULL,6843,NULL,NULL,NULL,3,NULL,NULL,NULL),(28280,'NCBI Gene PubMed Count',NULL,6844,NULL,NULL,NULL,10,NULL,NULL,NULL),(28281,'NCBI Gene Summary',NULL,6845,NULL,'The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(28282,'NCBI Gene PubMed Count',NULL,6845,NULL,NULL,NULL,23,NULL,NULL,NULL),(28283,'NCBI Gene PubMed Count',NULL,6846,NULL,NULL,NULL,8,NULL,NULL,NULL),(28284,'NCBI Gene Summary',NULL,6847,NULL,'This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28285,'NCBI Gene PubMed Count',NULL,6847,NULL,NULL,NULL,66,NULL,NULL,NULL),(28286,'NCBI Gene PubMed Count',NULL,6848,NULL,NULL,NULL,69,NULL,NULL,NULL),(28287,'NCBI Gene Summary',NULL,6849,NULL,'The protein encoded by this gene is a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5\' end of messenger RNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the 5\'-cap structure. Association of this protein with the 4F complex is the rate-limiting step in translation initiation. This gene acts as a proto-oncogene, and its expression and activation is associated with transformation and tumorigenesis. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(28288,'NCBI Gene PubMed Count',NULL,6849,NULL,NULL,NULL,331,NULL,NULL,NULL),(28289,'NCBI Gene Summary',NULL,6850,NULL,'This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(28290,'NCBI Gene PubMed Count',NULL,6850,NULL,NULL,NULL,8,NULL,NULL,NULL),(28291,'NCBI Gene PubMed Count',NULL,6851,NULL,NULL,NULL,32,NULL,NULL,NULL),(28292,'NCBI Gene PubMed Count',NULL,6852,NULL,NULL,NULL,18,NULL,NULL,NULL),(28293,'NCBI Gene Summary',NULL,6853,NULL,'This gene is a polymorphic pseudogene which, in some humans, encodes the interferon (IFN) lambda 4 protein. Humans are polymorphic for the dinucleotide TT/deltaG allele. Compared to the ancestral state in non-human primates, the TT allele produces a frameshift in the coding region of this gene which is predicted to induce nonsense-mediated mRNA decay. This allele, and an allele in the first intron of this gene, have experienced a rapid increase in frequency and show indications of positive selection. The ancestral states of these alleles are associated with an impaired ability to clear hepatitis C virus. This gene, like other type III interferons (IFNs), interacts with the IFN lambda receptor complex (IFNLR) whose signaling is generally restricted to epithelial cells. This gene resides in a cluster of four type III IFN genes and at least two pseudogenes on chromosome 19q13.2. In general, interferons are produced in response to viral infection and block viral replication and propagation to uninfected cells by activating the JAK-STAT pathway and up-regulating antiviral genes. Multiple alternatively spliced transcripts have been described for this gene but their biological validity and protein coding status is still being ascertained. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(28294,'NCBI Gene PubMed Count',NULL,6853,NULL,NULL,NULL,76,NULL,NULL,NULL),(28295,'NCBI Gene PubMed Count',NULL,6854,NULL,NULL,NULL,57,NULL,NULL,NULL),(28296,'NCBI Gene PubMed Count',NULL,6855,NULL,NULL,NULL,47,NULL,NULL,NULL),(28297,'NCBI Gene PubMed Count',NULL,6856,NULL,NULL,NULL,33,NULL,NULL,NULL),(28298,'NCBI Gene PubMed Count',NULL,6858,NULL,NULL,NULL,14,NULL,NULL,NULL),(28299,'NCBI Gene Summary',NULL,6859,NULL,'The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28300,'NCBI Gene PubMed Count',NULL,6859,NULL,NULL,NULL,42,NULL,NULL,NULL),(28301,'NCBI Gene Summary',NULL,6860,NULL,'The protein encoded by this gene is a phosphoprotein that may upregulate the PDGFA-stimulated growth of fibroblasts and also downregulate the mitogenicity of PDGFB. The encoded protein in rodents has been shown to bind PDGFA with a low affinity. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(28302,'NCBI Gene PubMed Count',NULL,6860,NULL,NULL,NULL,11,NULL,NULL,NULL),(28303,'NCBI Gene Summary',NULL,6861,NULL,'The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(28304,'NCBI Gene PubMed Count',NULL,6861,NULL,NULL,NULL,19,NULL,NULL,NULL),(28305,'NCBI Gene Summary',NULL,6862,NULL,'This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28306,'NCBI Gene PubMed Count',NULL,6862,NULL,NULL,NULL,110,NULL,NULL,NULL),(28307,'NCBI Gene Summary',NULL,6863,NULL,'This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(28308,'NCBI Gene PubMed Count',NULL,6863,NULL,NULL,NULL,18,NULL,NULL,NULL),(28309,'NCBI Gene Summary',NULL,6864,NULL,'The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28310,'NCBI Gene PubMed Count',NULL,6864,NULL,NULL,NULL,25,NULL,NULL,NULL),(28311,'NCBI Gene Summary',NULL,6865,NULL,'The protein encoded by this gene contains four kringle domains and a serine protease domain, similar to that found in hepatic growth factor. Despite the presence of the serine protease domain, the encoded protein may not have any proteolytic activity. The receptor for this protein is RON tyrosine kinase, which upon activation stimulates ciliary motility of ciliated epithelial lung cells. This protein is secreted and cleaved to form an alpha chain and a beta chain bridged by disulfide bonds. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(28312,'NCBI Gene PubMed Count',NULL,6865,NULL,NULL,NULL,67,NULL,NULL,NULL),(28313,'NCBI Gene Summary',NULL,6866,NULL,'This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(28314,'NCBI Gene PubMed Count',NULL,6866,NULL,NULL,NULL,58,NULL,NULL,NULL),(28315,'NCBI Gene Summary',NULL,6867,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5\' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28316,'NCBI Gene PubMed Count',NULL,6867,NULL,NULL,NULL,24,NULL,NULL,NULL),(28317,'NCBI Gene Summary',NULL,6868,NULL,'This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5\' end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(28318,'NCBI Gene PubMed Count',NULL,6868,NULL,NULL,NULL,19,NULL,NULL,NULL),(28319,'NCBI Gene PubMed Count',NULL,6869,NULL,NULL,NULL,4,NULL,NULL,NULL),(28320,'NCBI Gene Summary',NULL,6870,NULL,'IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(28321,'NCBI Gene PubMed Count',NULL,6870,NULL,NULL,NULL,21,NULL,NULL,NULL),(28322,'NCBI Gene Summary',NULL,6871,NULL,'The protein encoded by this gene belongs to the class II cytokine receptor family, and has been shown to be a receptor for interleukin 22 (IL22). IL22 receptor is a protein complex that consists of this protein and interleukin 10 receptor, beta (IL10BR/CRFB4), a subunit also shared by the receptor complex for interleukin 10 (IL10). This gene and interleukin 28 receptor, alpha (IL28RA) form a cytokine receptor gene cluster in the chromosomal region 1p36. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28323,'NCBI Gene PubMed Count',NULL,6871,NULL,NULL,NULL,37,NULL,NULL,NULL),(28324,'NCBI Gene Summary',NULL,6872,NULL,'This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(28325,'NCBI Gene PubMed Count',NULL,6872,NULL,NULL,NULL,21,NULL,NULL,NULL),(28326,'NCBI Gene Summary',NULL,6873,NULL,'The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28327,'NCBI Gene PubMed Count',NULL,6873,NULL,NULL,NULL,27,NULL,NULL,NULL),(28328,'NCBI Gene PubMed Count',NULL,6874,NULL,NULL,NULL,3,NULL,NULL,NULL),(28329,'NCBI Gene Summary',NULL,6875,NULL,'This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(28330,'NCBI Gene PubMed Count',NULL,6875,NULL,NULL,NULL,38,NULL,NULL,NULL),(28331,'NCBI Gene Summary',NULL,6876,NULL,'The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(28332,'NCBI Gene PubMed Count',NULL,6876,NULL,NULL,NULL,124,NULL,NULL,NULL),(28333,'NCBI Gene Summary',NULL,6877,NULL,'IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28334,'NCBI Gene PubMed Count',NULL,6877,NULL,NULL,NULL,40,NULL,NULL,NULL),(28335,'NCBI Gene Summary',NULL,6878,NULL,'This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(28336,'NCBI Gene PubMed Count',NULL,6878,NULL,NULL,NULL,60,NULL,NULL,NULL),(28337,'NCBI Gene PubMed Count',NULL,6879,NULL,NULL,NULL,29,NULL,NULL,NULL),(28338,'NCBI Gene Summary',NULL,6880,NULL,'This gene encodes a homeobox protein belonging to the TALE (\'three amino acid loop extension\') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28339,'NCBI Gene PubMed Count',NULL,6880,NULL,NULL,NULL,39,NULL,NULL,NULL),(28340,'NCBI Gene PubMed Count',NULL,6881,NULL,NULL,NULL,12,NULL,NULL,NULL),(28341,'NCBI Gene PubMed Count',NULL,6882,NULL,NULL,NULL,36,NULL,NULL,NULL),(28342,'NCBI Gene Summary',NULL,6883,NULL,'Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(28343,'NCBI Gene PubMed Count',NULL,6883,NULL,NULL,NULL,41,NULL,NULL,NULL),(28344,'NCBI Gene Summary',NULL,6884,NULL,'Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28345,'NCBI Gene PubMed Count',NULL,6884,NULL,NULL,NULL,10,NULL,NULL,NULL),(28346,'NCBI Gene Summary',NULL,6885,NULL,'This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(28347,'NCBI Gene PubMed Count',NULL,6885,NULL,NULL,NULL,388,NULL,NULL,NULL),(28348,'NCBI Gene Summary',NULL,6886,NULL,'The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn\'s disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(28349,'NCBI Gene PubMed Count',NULL,6886,NULL,NULL,NULL,230,NULL,NULL,NULL),(28350,'NCBI Gene Summary',NULL,6887,NULL,'This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(28351,'NCBI Gene PubMed Count',NULL,6887,NULL,NULL,NULL,47,NULL,NULL,NULL),(28352,'NCBI Gene Summary',NULL,6888,NULL,'This gene encodes a secreted calcium-binding phosphoprotein that belongs to the small integrin-binding ligand, N-linked glycoprotein (SIBLING) family of proteins. Members of this family are components of the extracellular matrix of bone and dentin and regulate bone mineralization. Deficiency of a similar protein in mouse results in increased bone mass. Mice lacking this gene are resistant to aging-related trabecular bone loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(28353,'NCBI Gene PubMed Count',NULL,6888,NULL,NULL,NULL,31,NULL,NULL,NULL),(28354,'NCBI Gene Summary',NULL,6889,NULL,'This gene encodes a beta subunit of integrin, which can combine with different alpha chains to form a variety of integrin heterodimers. Integrins are integral cell-surface receptors that participate in cell adhesion as well as cell-surface mediated signaling. The alphav beta5 integrin is involved in adhesion to vitronectin. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(28355,'NCBI Gene PubMed Count',NULL,6889,NULL,NULL,NULL,114,NULL,NULL,NULL),(28356,'NCBI Gene Summary',NULL,6890,NULL,'The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(28357,'NCBI Gene PubMed Count',NULL,6890,NULL,NULL,NULL,1,NULL,NULL,NULL),(28358,'NCBI Gene PubMed Count',NULL,6891,NULL,NULL,NULL,8,NULL,NULL,NULL),(28359,'NCBI Gene Summary',NULL,6892,NULL,'This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28360,'NCBI Gene PubMed Count',NULL,6892,NULL,NULL,NULL,51,NULL,NULL,NULL),(28361,'NCBI Gene PubMed Count',NULL,6893,NULL,NULL,NULL,30,NULL,NULL,NULL),(28362,'NCBI Gene Summary',NULL,6894,NULL,'The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(28363,'NCBI Gene PubMed Count',NULL,6894,NULL,NULL,NULL,36,NULL,NULL,NULL),(28364,'NCBI Gene Summary',NULL,6895,NULL,'The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(28365,'NCBI Gene PubMed Count',NULL,6895,NULL,NULL,NULL,250,NULL,NULL,NULL),(28366,'NCBI Gene Summary',NULL,6896,NULL,'Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This gene encodes the alpha 8 subunit of the heterodimeric integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(28367,'NCBI Gene PubMed Count',NULL,6896,NULL,NULL,NULL,32,NULL,NULL,NULL),(28368,'NCBI Gene Summary',NULL,6897,NULL,'This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28369,'NCBI Gene PubMed Count',NULL,6897,NULL,NULL,NULL,56,NULL,NULL,NULL),(28370,'NCBI Gene Summary',NULL,6898,NULL,'This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(28371,'NCBI Gene PubMed Count',NULL,6898,NULL,NULL,NULL,18,NULL,NULL,NULL),(28372,'NCBI Gene Summary',NULL,6899,NULL,'Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28373,'NCBI Gene PubMed Count',NULL,6899,NULL,NULL,NULL,58,NULL,NULL,NULL),(28374,'NCBI Gene Summary',NULL,6900,NULL,'This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 (\'Mac-1\'), or inactivated-C3b (iC3b) receptor 3 (\'CR3\'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(28375,'NCBI Gene PubMed Count',NULL,6900,NULL,NULL,NULL,291,NULL,NULL,NULL),(28376,'NCBI Gene PubMed Count',NULL,6901,NULL,NULL,NULL,13,NULL,NULL,NULL),(28377,'NCBI Gene Summary',NULL,6902,NULL,'This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(28378,'NCBI Gene PubMed Count',NULL,6902,NULL,NULL,NULL,12,NULL,NULL,NULL),(28379,'NCBI Gene Summary',NULL,6903,NULL,'This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(28380,'NCBI Gene PubMed Count',NULL,6903,NULL,NULL,NULL,55,NULL,NULL,NULL),(28381,'NCBI Gene Summary',NULL,6904,NULL,'Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28382,'NCBI Gene PubMed Count',NULL,6904,NULL,NULL,NULL,24,NULL,NULL,NULL),(28383,'NCBI Gene Summary',NULL,6905,NULL,'Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3\' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(28384,'NCBI Gene PubMed Count',NULL,6905,NULL,NULL,NULL,35,NULL,NULL,NULL),(28385,'NCBI Gene Summary',NULL,6906,NULL,'This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(28386,'NCBI Gene PubMed Count',NULL,6906,NULL,NULL,NULL,8,NULL,NULL,NULL),(28387,'NCBI Gene Summary',NULL,6907,NULL,'The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(28388,'NCBI Gene PubMed Count',NULL,6907,NULL,NULL,NULL,8,NULL,NULL,NULL),(28389,'NCBI Gene PubMed Count',NULL,6908,NULL,NULL,NULL,15,NULL,NULL,NULL),(28390,'NCBI Gene Summary',NULL,6909,NULL,'This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28391,'NCBI Gene PubMed Count',NULL,6909,NULL,NULL,NULL,48,NULL,NULL,NULL),(28392,'NCBI Gene PubMed Count',NULL,6910,NULL,NULL,NULL,4,NULL,NULL,NULL),(28393,'NCBI Gene Summary',NULL,6911,NULL,'The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(28394,'NCBI Gene PubMed Count',NULL,6911,NULL,NULL,NULL,46,NULL,NULL,NULL),(28395,'NCBI Gene Summary',NULL,6912,NULL,'This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(28396,'NCBI Gene PubMed Count',NULL,6912,NULL,NULL,NULL,35,NULL,NULL,NULL),(28397,'NCBI Gene Summary',NULL,6913,NULL,'Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(28398,'NCBI Gene PubMed Count',NULL,6913,NULL,NULL,NULL,25,NULL,NULL,NULL),(28399,'NCBI Gene Summary',NULL,6914,NULL,'This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28400,'NCBI Gene PubMed Count',NULL,6914,NULL,NULL,NULL,9,NULL,NULL,NULL),(28401,'NCBI Gene PubMed Count',NULL,6915,NULL,NULL,NULL,12,NULL,NULL,NULL),(28402,'NCBI Gene PubMed Count',NULL,6916,NULL,NULL,NULL,18,NULL,NULL,NULL),(28403,'NCBI Gene PubMed Count',NULL,6917,NULL,NULL,NULL,12,NULL,NULL,NULL),(28404,'NCBI Gene Summary',NULL,6918,NULL,'This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28405,'NCBI Gene PubMed Count',NULL,6918,NULL,NULL,NULL,27,NULL,NULL,NULL),(28406,'NCBI Gene Summary',NULL,6919,NULL,'KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(28407,'NCBI Gene PubMed Count',NULL,6919,NULL,NULL,NULL,92,NULL,NULL,NULL),(28408,'NCBI Gene PubMed Count',NULL,6920,NULL,NULL,NULL,11,NULL,NULL,NULL),(28409,'NCBI Gene Summary',NULL,6921,NULL,'The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(28410,'NCBI Gene PubMed Count',NULL,6921,NULL,NULL,NULL,45,NULL,NULL,NULL),(28411,'NCBI Gene Summary',NULL,6922,NULL,'The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(28412,'NCBI Gene PubMed Count',NULL,6922,NULL,NULL,NULL,56,NULL,NULL,NULL),(28413,'NCBI Gene PubMed Count',NULL,6923,NULL,NULL,NULL,18,NULL,NULL,NULL),(28414,'NCBI Gene PubMed Count',NULL,6924,NULL,NULL,NULL,13,NULL,NULL,NULL),(28415,'NCBI Gene Summary',NULL,6925,NULL,'This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(28416,'NCBI Gene PubMed Count',NULL,6925,NULL,NULL,NULL,17,NULL,NULL,NULL),(28417,'NCBI Gene Summary',NULL,6926,NULL,'This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(28418,'NCBI Gene PubMed Count',NULL,6926,NULL,NULL,NULL,19,NULL,NULL,NULL),(28419,'NCBI Gene Summary',NULL,6927,NULL,'The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(28420,'NCBI Gene PubMed Count',NULL,6927,NULL,NULL,NULL,8,NULL,NULL,NULL),(28421,'NCBI Gene Summary',NULL,6928,NULL,'This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(28422,'NCBI Gene PubMed Count',NULL,6928,NULL,NULL,NULL,17,NULL,NULL,NULL),(28423,'NCBI Gene PubMed Count',NULL,6929,NULL,NULL,NULL,8,NULL,NULL,NULL),(28424,'NCBI Gene PubMed Count',NULL,6930,NULL,NULL,NULL,5,NULL,NULL,NULL),(28425,'NCBI Gene PubMed Count',NULL,6931,NULL,NULL,NULL,5,NULL,NULL,NULL),(28426,'NCBI Gene PubMed Count',NULL,6932,NULL,NULL,NULL,5,NULL,NULL,NULL),(28427,'NCBI Gene Summary',NULL,6933,NULL,'This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(28428,'NCBI Gene PubMed Count',NULL,6933,NULL,NULL,NULL,1092,NULL,NULL,NULL),(28429,'NCBI Gene PubMed Count',NULL,6934,NULL,NULL,NULL,4,NULL,NULL,NULL),(28430,'NCBI Gene Summary',NULL,6935,NULL,'This gene encodes an RNA-binding phosphoprotein that is part of the MEX3 (muscle excess 3) family of translational regulators. The encoded protein contains N-terminal nuclear export and nuclear localization signals and is exported from the cytoplasm to the nucleus. The protein binds to RNA via two KH domains and also colocalizes with MEX3A, Dcp1A decapping factor and Argonaute proteins within P (processing) bodies. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(28431,'NCBI Gene PubMed Count',NULL,6935,NULL,NULL,NULL,17,NULL,NULL,NULL),(28432,'NCBI Gene Summary',NULL,6936,NULL,'This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(28433,'NCBI Gene PubMed Count',NULL,6936,NULL,NULL,NULL,16,NULL,NULL,NULL),(28434,'NCBI Gene Summary',NULL,6937,NULL,'This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein may also be involved in the regulation of apoptosis, circadian rhythm, microtubule dynamics, chromosome segregation, and p53-mediated effects on growth. The encoded protein is highly similar to the mouse and rat CK1 delta homologs. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(28435,'NCBI Gene PubMed Count',NULL,6937,NULL,NULL,NULL,88,NULL,NULL,NULL),(28436,'NCBI Gene PubMed Count',NULL,6938,NULL,NULL,NULL,6,NULL,NULL,NULL),(28437,'NCBI Gene PubMed Count',NULL,6939,NULL,NULL,NULL,8,NULL,NULL,NULL),(28438,'NCBI Gene Summary',NULL,6940,NULL,'This locus represents naturally occurring readthrough transcription between the neighboring LOC400927 (transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene) and CSNK1E (casein kinase I isoform epsilon) genes on chromosome 22. The readthrough transcript encodes the same protein as the downstream gene product (casein kinase I isoform epsilon). [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(28439,'NCBI Gene PubMed Count',NULL,6940,NULL,NULL,NULL,42,NULL,NULL,NULL),(28440,'NCBI Gene Summary',NULL,6941,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(28441,'NCBI Gene PubMed Count',NULL,6941,NULL,NULL,NULL,21,NULL,NULL,NULL),(28442,'NCBI Gene PubMed Count',NULL,6942,NULL,NULL,NULL,22,NULL,NULL,NULL),(28443,'NCBI Gene PubMed Count',NULL,6943,NULL,NULL,NULL,17,NULL,NULL,NULL),(28444,'NCBI Gene Summary',NULL,6944,NULL,'Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(28445,'NCBI Gene PubMed Count',NULL,6944,NULL,NULL,NULL,33,NULL,NULL,NULL),(28446,'NCBI Gene PubMed Count',NULL,6945,NULL,NULL,NULL,7,NULL,NULL,NULL),(28447,'NCBI Gene Summary',NULL,6946,NULL,'This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(28448,'NCBI Gene PubMed Count',NULL,6946,NULL,NULL,NULL,26,NULL,NULL,NULL),(28449,'NCBI Gene Summary',NULL,6947,NULL,'PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(28450,'NCBI Gene PubMed Count',NULL,6947,NULL,NULL,NULL,11,NULL,NULL,NULL),(28451,'NCBI Gene Summary',NULL,6948,NULL,'This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(28452,'NCBI Gene PubMed Count',NULL,6948,NULL,NULL,NULL,30,NULL,NULL,NULL),(28453,'NCBI Gene Summary',NULL,6949,NULL,'This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(28454,'NCBI Gene PubMed Count',NULL,6949,NULL,NULL,NULL,51,NULL,NULL,NULL),(28455,'NCBI Gene PubMed Count',NULL,6950,NULL,NULL,NULL,7,NULL,NULL,NULL),(28456,'NCBI Gene Summary',NULL,6951,NULL,'This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28457,'NCBI Gene PubMed Count',NULL,6951,NULL,NULL,NULL,13,NULL,NULL,NULL),(28458,'NCBI Gene Summary',NULL,6952,NULL,'This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(28459,'NCBI Gene PubMed Count',NULL,6952,NULL,NULL,NULL,18,NULL,NULL,NULL),(28460,'NCBI Gene PubMed Count',NULL,6953,NULL,NULL,NULL,13,NULL,NULL,NULL),(28461,'NCBI Gene Summary',NULL,6954,NULL,'This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(28462,'NCBI Gene PubMed Count',NULL,6954,NULL,NULL,NULL,26,NULL,NULL,NULL),(28463,'NCBI Gene Summary',NULL,6956,NULL,'This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(28464,'NCBI Gene PubMed Count',NULL,6956,NULL,NULL,NULL,986,NULL,NULL,NULL),(28465,'NCBI Gene PubMed Count',NULL,6957,NULL,NULL,NULL,8,NULL,NULL,NULL),(28466,'NCBI Gene Summary',NULL,6958,NULL,'This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(28467,'NCBI Gene PubMed Count',NULL,6958,NULL,NULL,NULL,245,NULL,NULL,NULL),(28468,'NCBI Gene Summary',NULL,6959,NULL,'This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28469,'NCBI Gene PubMed Count',NULL,6959,NULL,NULL,NULL,40,NULL,NULL,NULL),(28470,'NCBI Gene Summary',NULL,6960,NULL,'This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28471,'NCBI Gene PubMed Count',NULL,6960,NULL,NULL,NULL,357,NULL,NULL,NULL),(28472,'NCBI Gene Summary',NULL,6961,NULL,'The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(28473,'NCBI Gene PubMed Count',NULL,6961,NULL,NULL,NULL,109,NULL,NULL,NULL),(28474,'NCBI Gene Summary',NULL,6962,NULL,'The protein encoded by this gene is a cytokine that can activate NF-kappa-B and MAPK signaling pathways to generate an inflammatory response. The encoded protein functions primarily in skin and demonstrates increased expression in psoriasis. In addition, decreased expression of this gene has been linked to a poor prognosis in both hepatocellular carcinoma and colorectal cancer patients. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(28475,'NCBI Gene PubMed Count',NULL,6962,NULL,NULL,NULL,43,NULL,NULL,NULL),(28476,'NCBI Gene Summary',NULL,6963,NULL,'The protein encoded by this gene is a member of the interleukin 1 cytokine family. Protein structure modeling indicated that this cytokine may contain a 12-stranded beta-trefoil structure that is conserved between IL1A (IL-A alpha) and IL1B (IL-1 beta). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28477,'NCBI Gene PubMed Count',NULL,6963,NULL,NULL,NULL,26,NULL,NULL,NULL),(28478,'NCBI Gene PubMed Count',NULL,6964,NULL,NULL,NULL,8,NULL,NULL,NULL),(28479,'NCBI Gene Summary',NULL,6965,NULL,'The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(28480,'NCBI Gene PubMed Count',NULL,6965,NULL,NULL,NULL,14,NULL,NULL,NULL),(28481,'NCBI Gene PubMed Count',NULL,6966,NULL,NULL,NULL,9,NULL,NULL,NULL),(28482,'NCBI Gene PubMed Count',NULL,6967,NULL,NULL,NULL,49,NULL,NULL,NULL),(28483,'NCBI Gene PubMed Count',NULL,6968,NULL,NULL,NULL,16,NULL,NULL,NULL),(28484,'NCBI Gene PubMed Count',NULL,6969,NULL,NULL,NULL,13,NULL,NULL,NULL),(28485,'NCBI Gene Summary',NULL,6970,NULL,'This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(28486,'NCBI Gene PubMed Count',NULL,6970,NULL,NULL,NULL,459,NULL,NULL,NULL),(28487,'NCBI Gene Summary',NULL,6971,NULL,'The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28488,'NCBI Gene PubMed Count',NULL,6971,NULL,NULL,NULL,1062,NULL,NULL,NULL),(28489,'NCBI Gene Summary',NULL,6972,NULL,'The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(28490,'NCBI Gene PubMed Count',NULL,6972,NULL,NULL,NULL,47,NULL,NULL,NULL),(28491,'NCBI Gene Summary',NULL,6973,NULL,'This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(28492,'NCBI Gene PubMed Count',NULL,6973,NULL,NULL,NULL,29,NULL,NULL,NULL),(28493,'NCBI Gene Summary',NULL,6974,NULL,'This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28494,'NCBI Gene PubMed Count',NULL,6974,NULL,NULL,NULL,83,NULL,NULL,NULL),(28495,'NCBI Gene Summary',NULL,6975,NULL,'This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer\'s patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(28496,'NCBI Gene PubMed Count',NULL,6975,NULL,NULL,NULL,69,NULL,NULL,NULL),(28497,'NCBI Gene PubMed Count',NULL,6976,NULL,NULL,NULL,173,NULL,NULL,NULL),(28498,'NCBI Gene Summary',NULL,6977,NULL,'This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(28499,'NCBI Gene PubMed Count',NULL,6977,NULL,NULL,NULL,24,NULL,NULL,NULL),(28500,'NCBI Gene Summary',NULL,6978,NULL,'Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(28501,'NCBI Gene PubMed Count',NULL,6978,NULL,NULL,NULL,62,NULL,NULL,NULL),(28502,'NCBI Gene Summary',NULL,6979,NULL,'This gene encodes a protein with two cysteine and histidine-rich (CHORD) domains, PXXP motifs, YXXI/P motifs, putative SH2 and SH3 domain binding motifs, and an acidic region at the C-terminus that can bind calcium. Two hybrid analysis showed that this protein interacts with the cytoplasmic domain of the beta 1 integrin subunit and is thought to act as a chaperone protein. Studies in the mouse ortholog of this gene indicate that absence of this gene in mouse results in failed cardiac hypertrophy in response to mechanical stress. Alternative splicing results in multiple transcript variants encoding different isoforms, including an isoform that lacks several domains, including one of the CHORD domains. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(28503,'NCBI Gene PubMed Count',NULL,6979,NULL,NULL,NULL,14,NULL,NULL,NULL),(28504,'NCBI Gene PubMed Count',NULL,6980,NULL,NULL,NULL,18,NULL,NULL,NULL),(28505,'NCBI Gene Summary',NULL,6981,NULL,'This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(28506,'NCBI Gene PubMed Count',NULL,6981,NULL,NULL,NULL,24,NULL,NULL,NULL),(28507,'NCBI Gene Summary',NULL,6982,NULL,'This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(28508,'NCBI Gene PubMed Count',NULL,6982,NULL,NULL,NULL,100,NULL,NULL,NULL),(28509,'NCBI Gene Summary',NULL,6983,NULL,'Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(28510,'NCBI Gene PubMed Count',NULL,6983,NULL,NULL,NULL,38,NULL,NULL,NULL),(28511,'NCBI Gene Summary',NULL,6984,NULL,'This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(28512,'NCBI Gene PubMed Count',NULL,6984,NULL,NULL,NULL,33,NULL,NULL,NULL),(28513,'NCBI Gene PubMed Count',NULL,6985,NULL,NULL,NULL,18,NULL,NULL,NULL),(28514,'NCBI Gene PubMed Count',NULL,6986,NULL,NULL,NULL,10,NULL,NULL,NULL),(28515,'NCBI Gene Summary',NULL,6987,NULL,'This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(28516,'NCBI Gene PubMed Count',NULL,6987,NULL,NULL,NULL,23,NULL,NULL,NULL),(28517,'NCBI Gene Summary',NULL,6988,NULL,'The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(28518,'NCBI Gene PubMed Count',NULL,6988,NULL,NULL,NULL,17,NULL,NULL,NULL),(28519,'NCBI Gene PubMed Count',NULL,6989,NULL,NULL,NULL,31,NULL,NULL,NULL),(28520,'NCBI Gene PubMed Count',NULL,6990,NULL,NULL,NULL,12,NULL,NULL,NULL),(28521,'NCBI Gene Summary',NULL,6991,NULL,'The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein.  Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch.  Mutations that alter the jagged 1 protein cause Alagille syndrome.  Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28522,'NCBI Gene PubMed Count',NULL,6991,NULL,NULL,NULL,265,NULL,NULL,NULL),(28523,'NCBI Gene Summary',NULL,6992,NULL,'The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28524,'NCBI Gene PubMed Count',NULL,6992,NULL,NULL,NULL,56,NULL,NULL,NULL),(28525,'NCBI Gene PubMed Count',NULL,6993,NULL,NULL,NULL,11,NULL,NULL,NULL),(28526,'NCBI Gene Summary',NULL,6994,NULL,'The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28527,'NCBI Gene PubMed Count',NULL,6994,NULL,NULL,NULL,187,NULL,NULL,NULL),(28528,'NCBI Gene Summary',NULL,6995,NULL,'Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5\' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28529,'NCBI Gene PubMed Count',NULL,6995,NULL,NULL,NULL,125,NULL,NULL,NULL),(28530,'NCBI Gene Summary',NULL,6996,NULL,'This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(28531,'NCBI Gene PubMed Count',NULL,6996,NULL,NULL,NULL,29,NULL,NULL,NULL),(28532,'NCBI Gene Summary',NULL,6997,NULL,'The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(28533,'NCBI Gene PubMed Count',NULL,6997,NULL,NULL,NULL,6,NULL,NULL,NULL),(28534,'NCBI Gene Summary',NULL,6998,NULL,'Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(28535,'NCBI Gene PubMed Count',NULL,6998,NULL,NULL,NULL,59,NULL,NULL,NULL),(28536,'NCBI Gene Summary',NULL,6999,NULL,'This gene encodes a scaffold protein that is thought to be involved in the regulation of the c-Jun amino-terminal kinase signaling pathway. This protein has been shown to interact with and regulate the activity of MAPK8/JNK1 and MAP2K7/MKK7 kinases. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(28537,'NCBI Gene PubMed Count',NULL,6999,NULL,NULL,NULL,25,NULL,NULL,NULL),(28538,'NCBI Gene PubMed Count',NULL,7000,NULL,NULL,NULL,15,NULL,NULL,NULL),(28539,'NCBI Gene Summary',NULL,7001,NULL,'This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28540,'NCBI Gene PubMed Count',NULL,7001,NULL,NULL,NULL,17,NULL,NULL,NULL),(28541,'NCBI Gene Summary',NULL,7002,NULL,'Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28542,'NCBI Gene PubMed Count',NULL,7002,NULL,NULL,NULL,17,NULL,NULL,NULL),(28543,'NCBI Gene Summary',NULL,7003,NULL,'This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28544,'NCBI Gene PubMed Count',NULL,7003,NULL,NULL,NULL,56,NULL,NULL,NULL),(28545,'NCBI Gene PubMed Count',NULL,7004,NULL,NULL,NULL,111,NULL,NULL,NULL),(28546,'NCBI Gene Summary',NULL,7005,NULL,'Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28547,'NCBI Gene PubMed Count',NULL,7005,NULL,NULL,NULL,75,NULL,NULL,NULL),(28548,'NCBI Gene Summary',NULL,7006,NULL,'cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(28549,'NCBI Gene PubMed Count',NULL,7006,NULL,NULL,NULL,194,NULL,NULL,NULL),(28550,'NCBI Gene Summary',NULL,7007,NULL,'cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28551,'NCBI Gene PubMed Count',NULL,7007,NULL,NULL,NULL,106,NULL,NULL,NULL),(28552,'NCBI Gene Summary',NULL,7008,NULL,'The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(28553,'NCBI Gene PubMed Count',NULL,7008,NULL,NULL,NULL,58,NULL,NULL,NULL),(28554,'NCBI Gene Summary',NULL,7009,NULL,'Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a regulatory subunit dimer. This gene encodes the gamma form of its catalytic subunit. The gene is intronless and is thought to be a retrotransposon derived from the gene for the alpha form of the PKA catalytic subunit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28555,'NCBI Gene PubMed Count',NULL,7009,NULL,NULL,NULL,27,NULL,NULL,NULL),(28556,'NCBI Gene PubMed Count',NULL,7010,NULL,NULL,NULL,9,NULL,NULL,NULL),(28557,'NCBI Gene Summary',NULL,7011,NULL,'CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28558,'NCBI Gene PubMed Count',NULL,7011,NULL,NULL,NULL,245,NULL,NULL,NULL),(28559,'NCBI Gene Summary',NULL,7012,NULL,'This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid, which is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5\' exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(28560,'NCBI Gene PubMed Count',NULL,7012,NULL,NULL,NULL,16,NULL,NULL,NULL),(28561,'NCBI Gene PubMed Count',NULL,7013,NULL,NULL,NULL,9,NULL,NULL,NULL),(28562,'NCBI Gene PubMed Count',NULL,7014,NULL,NULL,NULL,5,NULL,NULL,NULL),(28563,'NCBI Gene PubMed Count',NULL,7015,NULL,NULL,NULL,13,NULL,NULL,NULL),(28564,'NCBI Gene Summary',NULL,7016,NULL,'Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(28565,'NCBI Gene PubMed Count',NULL,7016,NULL,NULL,NULL,30,NULL,NULL,NULL),(28566,'NCBI Gene Summary',NULL,7017,NULL,'This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(28567,'NCBI Gene PubMed Count',NULL,7017,NULL,NULL,NULL,6,NULL,NULL,NULL),(28568,'NCBI Gene Summary',NULL,7018,NULL,'This gene encodes a member of a family of serine/threonine protein kinases that phosphorylate caseins and other acidic proteins. A related protein in the African clawed frog participates in the transmission of Wnt/beta-catenin signaling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(28569,'NCBI Gene PubMed Count',NULL,7018,NULL,NULL,NULL,15,NULL,NULL,NULL),(28570,'NCBI Gene Summary',NULL,7019,NULL,'The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(28571,'NCBI Gene PubMed Count',NULL,7019,NULL,NULL,NULL,76,NULL,NULL,NULL),(28572,'NCBI Gene Summary',NULL,7020,NULL,'This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(28573,'NCBI Gene PubMed Count',NULL,7020,NULL,NULL,NULL,24,NULL,NULL,NULL),(28574,'NCBI Gene Summary',NULL,7021,NULL,'The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28575,'NCBI Gene PubMed Count',NULL,7021,NULL,NULL,NULL,76,NULL,NULL,NULL),(28576,'NCBI Gene Summary',NULL,7022,NULL,'Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(28577,'NCBI Gene PubMed Count',NULL,7022,NULL,NULL,NULL,13,NULL,NULL,NULL),(28578,'NCBI Gene Summary',NULL,7023,NULL,'Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(28579,'NCBI Gene PubMed Count',NULL,7023,NULL,NULL,NULL,27,NULL,NULL,NULL),(28580,'NCBI Gene Summary',NULL,7024,NULL,'Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(28581,'NCBI Gene PubMed Count',NULL,7024,NULL,NULL,NULL,31,NULL,NULL,NULL),(28582,'NCBI Gene Summary',NULL,7025,NULL,'This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(28583,'NCBI Gene PubMed Count',NULL,7025,NULL,NULL,NULL,10,NULL,NULL,NULL),(28584,'NCBI Gene Summary',NULL,7026,NULL,'This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(28585,'NCBI Gene PubMed Count',NULL,7026,NULL,NULL,NULL,94,NULL,NULL,NULL),(28586,'NCBI Gene Summary',NULL,7027,NULL,'Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28587,'NCBI Gene PubMed Count',NULL,7027,NULL,NULL,NULL,18,NULL,NULL,NULL),(28588,'NCBI Gene Summary',NULL,7028,NULL,'Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28589,'NCBI Gene PubMed Count',NULL,7028,NULL,NULL,NULL,11,NULL,NULL,NULL),(28590,'NCBI Gene Summary',NULL,7029,NULL,'Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28591,'NCBI Gene PubMed Count',NULL,7029,NULL,NULL,NULL,9,NULL,NULL,NULL),(28592,'NCBI Gene Summary',NULL,7030,NULL,'The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28593,'NCBI Gene PubMed Count',NULL,7030,NULL,NULL,NULL,50,NULL,NULL,NULL),(28594,'NCBI Gene Summary',NULL,7031,NULL,'MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28595,'NCBI Gene PubMed Count',NULL,7031,NULL,NULL,NULL,62,NULL,NULL,NULL),(28596,'NCBI Gene Summary',NULL,7032,NULL,'This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28597,'NCBI Gene PubMed Count',NULL,7032,NULL,NULL,NULL,183,NULL,NULL,NULL),(28598,'NCBI Gene Summary',NULL,7033,NULL,'MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(28599,'NCBI Gene PubMed Count',NULL,7033,NULL,NULL,NULL,20,NULL,NULL,NULL),(28600,'NCBI Gene Summary',NULL,7034,NULL,'This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both \"b\" and \"alpha\", while the shorter isoform has been called both \"a\" and \"beta\" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(28601,'NCBI Gene PubMed Count',NULL,7034,NULL,NULL,NULL,30,NULL,NULL,NULL),(28602,'NCBI Gene Summary',NULL,7035,NULL,'The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28603,'NCBI Gene PubMed Count',NULL,7035,NULL,NULL,NULL,60,NULL,NULL,NULL),(28604,'NCBI Gene Summary',NULL,7036,NULL,'This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(28605,'NCBI Gene PubMed Count',NULL,7036,NULL,NULL,NULL,35,NULL,NULL,NULL),(28606,'NCBI Gene Summary',NULL,7037,NULL,'This gene encodes a protein which regulates the activity of voltage-gated potassium channels. This gene is on chromosome 13 and overlaps the gene for tripartite motif containing 13 on the same strand. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(28607,'NCBI Gene PubMed Count',NULL,7037,NULL,NULL,NULL,14,NULL,NULL,NULL),(28608,'NCBI Gene Summary',NULL,7038,NULL,'Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28609,'NCBI Gene PubMed Count',NULL,7038,NULL,NULL,NULL,13,NULL,NULL,NULL),(28610,'NCBI Gene PubMed Count',NULL,7039,NULL,NULL,NULL,6,NULL,NULL,NULL),(28611,'NCBI Gene PubMed Count',NULL,7040,NULL,NULL,NULL,6,NULL,NULL,NULL),(28612,'NCBI Gene Summary',NULL,7041,NULL,'This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer\'s disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(28613,'NCBI Gene PubMed Count',NULL,7041,NULL,NULL,NULL,40,NULL,NULL,NULL),(28614,'NCBI Gene Summary',NULL,7042,NULL,'This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5\' end of capped RNA. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28615,'NCBI Gene PubMed Count',NULL,7042,NULL,NULL,NULL,41,NULL,NULL,NULL),(28616,'NCBI Gene Summary',NULL,7043,NULL,'This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinson\'s disease. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(28617,'NCBI Gene PubMed Count',NULL,7043,NULL,NULL,NULL,21,NULL,NULL,NULL),(28618,'NCBI Gene Summary',NULL,7044,NULL,'This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 28B (IL28B) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28619,'NCBI Gene PubMed Count',NULL,7044,NULL,NULL,NULL,103,NULL,NULL,NULL),(28620,'NCBI Gene Summary',NULL,7045,NULL,'This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28B (IL28B), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28621,'NCBI Gene PubMed Count',NULL,7045,NULL,NULL,NULL,34,NULL,NULL,NULL),(28622,'NCBI Gene Summary',NULL,7046,NULL,'This gene is a member of the alpha interferon gene cluster on chromosome 9. The encoded protein is a cytokine produced in response to viral infection. Use of the recombinant form of this protein has been shown to be effective in reducing the symptoms and duration of the common cold. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(28623,'NCBI Gene PubMed Count',NULL,7046,NULL,NULL,NULL,117,NULL,NULL,NULL),(28624,'NCBI Gene Summary',NULL,7047,NULL,'This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(28625,'NCBI Gene PubMed Count',NULL,7047,NULL,NULL,NULL,14,NULL,NULL,NULL),(28626,'NCBI Gene PubMed Count',NULL,7048,NULL,NULL,NULL,13,NULL,NULL,NULL),(28627,'NCBI Gene Summary',NULL,7049,NULL,'This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(28628,'NCBI Gene PubMed Count',NULL,7049,NULL,NULL,NULL,41,NULL,NULL,NULL),(28629,'NCBI Gene PubMed Count',NULL,7050,NULL,NULL,NULL,5,NULL,NULL,NULL),(28630,'NCBI Gene Summary',NULL,7051,NULL,'This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 14.[provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(28631,'NCBI Gene PubMed Count',NULL,7051,NULL,NULL,NULL,31,NULL,NULL,NULL),(28632,'NCBI Gene Summary',NULL,7052,NULL,'The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(28633,'NCBI Gene PubMed Count',NULL,7052,NULL,NULL,NULL,12,NULL,NULL,NULL),(28634,'NCBI Gene Summary',NULL,7053,NULL,'This gene is expressed in antisense to the insulin-like growth factor 2 (IGF2) gene and is imprinted and paternally expressed. It is thought to be non-coding because the putative protein is not conserved and translation is predicted to trigger nonsense mediated decay (NMD). Transcripts from this gene are produced in tumors and may function to suppress cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(28635,'NCBI Gene PubMed Count',NULL,7053,NULL,NULL,NULL,21,NULL,NULL,NULL),(28636,'NCBI Gene PubMed Count',NULL,7054,NULL,NULL,NULL,6,NULL,NULL,NULL),(28637,'NCBI Gene PubMed Count',NULL,7055,NULL,NULL,NULL,7,NULL,NULL,NULL),(28638,'NCBI Gene Summary',NULL,7056,NULL,'The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28639,'NCBI Gene PubMed Count',NULL,7056,NULL,NULL,NULL,31,NULL,NULL,NULL),(28640,'NCBI Gene PubMed Count',NULL,7057,NULL,NULL,NULL,2,NULL,NULL,NULL),(28641,'NCBI Gene Summary',NULL,7058,NULL,'IGFL3 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(28642,'NCBI Gene PubMed Count',NULL,7058,NULL,NULL,NULL,8,NULL,NULL,NULL),(28643,'NCBI Gene PubMed Count',NULL,7060,NULL,NULL,NULL,9,NULL,NULL,NULL),(28644,'NCBI Gene Summary',NULL,7061,NULL,'The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28645,'NCBI Gene PubMed Count',NULL,7061,NULL,NULL,NULL,85,NULL,NULL,NULL),(28646,'NCBI Gene Summary',NULL,7062,NULL,'The protein encoded by this gene is a T cell-derived cytokine that shares sequence similarity with IL17. This cytokine was reported to stimulate the release of TNF alpha (TNF) and IL1 beta (IL1B) from a monocytic cell line. Immunohistochemical analysis of several nerve tissues indicated that this cytokine is primarily localized to neuronal cell bodies. Alternative splicing results in multiple splice variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(28647,'NCBI Gene PubMed Count',NULL,7062,NULL,NULL,NULL,20,NULL,NULL,NULL),(28648,'NCBI Gene Summary',NULL,7063,NULL,'The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28649,'NCBI Gene PubMed Count',NULL,7063,NULL,NULL,NULL,49,NULL,NULL,NULL),(28650,'NCBI Gene Summary',NULL,7064,NULL,'The protein encoded by this gene is a cytokine that acts as a regulator of a variety of hematopoietic cells. This cytokine stimulates cell proliferation and prevents apoptosis. It functions through the interleukin 9 receptor (IL9R), which activates different signal transducer and activator (STAT) proteins and thus connects this cytokine to various biological processes. The gene encoding this cytokine has been identified as a candidate gene for asthma. Genetic studies on a mouse model of asthma demonstrated that this cytokine is a determining factor in the pathogenesis of bronchial hyperresponsiveness. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28651,'NCBI Gene PubMed Count',NULL,7064,NULL,NULL,NULL,142,NULL,NULL,NULL),(28652,'NCBI Gene PubMed Count',NULL,7065,NULL,NULL,NULL,1,NULL,NULL,NULL),(28653,'NCBI Gene PubMed Count',NULL,7066,NULL,NULL,NULL,3,NULL,NULL,NULL),(28654,'NCBI Gene Summary',NULL,7067,NULL,'The protein encoded by this gene is a Kazal-type serine protease inhibitor that appears to specifically target kallikrein-related peptidase 5 (KLK5) in the palmo-plantar epidermis. KLK5 is an important initiator of skin desquamation, so the encoded protease inhibitor may regulate skin differentiation in the palms of hands and soles of feet. This cationic protein has also been shown to promote keratinocyte migration by activation of the epidermal growth factor receptor (EGFR). [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(28655,'NCBI Gene PubMed Count',NULL,7067,NULL,NULL,NULL,6,NULL,NULL,NULL),(28656,'NCBI Gene Summary',NULL,7068,NULL,'This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(28657,'NCBI Gene PubMed Count',NULL,7068,NULL,NULL,NULL,29,NULL,NULL,NULL),(28658,'NCBI Gene Summary',NULL,7069,NULL,'The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(28659,'NCBI Gene PubMed Count',NULL,7069,NULL,NULL,NULL,55,NULL,NULL,NULL),(28660,'NCBI Gene Summary',NULL,7070,NULL,'This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28661,'NCBI Gene PubMed Count',NULL,7070,NULL,NULL,NULL,118,NULL,NULL,NULL),(28662,'NCBI Gene PubMed Count',NULL,7071,NULL,NULL,NULL,6,NULL,NULL,NULL),(28663,'NCBI Gene Summary',NULL,7072,NULL,'This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(28664,'NCBI Gene PubMed Count',NULL,7072,NULL,NULL,NULL,118,NULL,NULL,NULL),(28665,'NCBI Gene Summary',NULL,7073,NULL,'The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28666,'NCBI Gene PubMed Count',NULL,7073,NULL,NULL,NULL,66,NULL,NULL,NULL),(28667,'NCBI Gene Summary',NULL,7074,NULL,'This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(28668,'NCBI Gene PubMed Count',NULL,7074,NULL,NULL,NULL,173,NULL,NULL,NULL),(28669,'NCBI Gene PubMed Count',NULL,7075,NULL,NULL,NULL,9,NULL,NULL,NULL),(28670,'NCBI Gene Summary',NULL,7076,NULL,'The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(28671,'NCBI Gene PubMed Count',NULL,7076,NULL,NULL,NULL,55,NULL,NULL,NULL),(28672,'NCBI Gene Summary',NULL,7077,NULL,'This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(28673,'NCBI Gene PubMed Count',NULL,7077,NULL,NULL,NULL,83,NULL,NULL,NULL),(28674,'NCBI Gene PubMed Count',NULL,7078,NULL,NULL,NULL,12,NULL,NULL,NULL),(28675,'NCBI Gene Summary',NULL,7079,NULL,'This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(28676,'NCBI Gene PubMed Count',NULL,7079,NULL,NULL,NULL,10,NULL,NULL,NULL),(28677,'NCBI Gene PubMed Count',NULL,7080,NULL,NULL,NULL,18,NULL,NULL,NULL),(28678,'NCBI Gene Summary',NULL,7081,NULL,'The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(28679,'NCBI Gene PubMed Count',NULL,7081,NULL,NULL,NULL,19,NULL,NULL,NULL),(28680,'NCBI Gene PubMed Count',NULL,7082,NULL,NULL,NULL,7,NULL,NULL,NULL),(28681,'NCBI Gene Summary',NULL,7083,NULL,'The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(28682,'NCBI Gene PubMed Count',NULL,7083,NULL,NULL,NULL,55,NULL,NULL,NULL),(28683,'NCBI Gene Summary',NULL,7084,NULL,'This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(28684,'NCBI Gene PubMed Count',NULL,7084,NULL,NULL,NULL,61,NULL,NULL,NULL),(28685,'NCBI Gene PubMed Count',NULL,7085,NULL,NULL,NULL,6,NULL,NULL,NULL),(28686,'NCBI Gene PubMed Count',NULL,7086,NULL,NULL,NULL,14,NULL,NULL,NULL),(28687,'NCBI Gene Summary',NULL,7087,NULL,'This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(28688,'NCBI Gene PubMed Count',NULL,7087,NULL,NULL,NULL,8,NULL,NULL,NULL),(28689,'NCBI Gene PubMed Count',NULL,7088,NULL,NULL,NULL,7,NULL,NULL,NULL),(28690,'NCBI Gene Summary',NULL,7089,NULL,'This gene is the putative transforming gene of avian sarcoma virus 17. It encodes a protein which is highly similar to the viral protein, and which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28691,'NCBI Gene PubMed Count',NULL,7089,NULL,NULL,NULL,916,NULL,NULL,NULL),(28692,'NCBI Gene PubMed Count',NULL,7090,NULL,NULL,NULL,16,NULL,NULL,NULL),(28693,'NCBI Gene PubMed Count',NULL,7091,NULL,NULL,NULL,11,NULL,NULL,NULL),(28694,'NCBI Gene PubMed Count',NULL,7092,NULL,NULL,NULL,7,NULL,NULL,NULL),(28695,'NCBI Gene Summary',NULL,7093,NULL,'This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this gene is negatively regulated by direct binding of the microRNA miR-195 to its 3\' UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenograft metastases by downgrading expression of this gene. In mouse, the protein encoded by this gene was identified as an antigen on acute monocytic leukemia cells. In human, alternative splicing results in multiple transcript variants encoding distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a Golgi-body-localization APT1 domain. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(28696,'NCBI Gene PubMed Count',NULL,7093,NULL,NULL,NULL,10,NULL,NULL,NULL),(28697,'NCBI Gene PubMed Count',NULL,7094,NULL,NULL,NULL,7,NULL,NULL,NULL),(28698,'NCBI Gene PubMed Count',NULL,7095,NULL,NULL,NULL,8,NULL,NULL,NULL),(28699,'NCBI Gene PubMed Count',NULL,7096,NULL,NULL,NULL,10,NULL,NULL,NULL),(28700,'NCBI Gene Summary',NULL,7097,NULL,'This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(28701,'NCBI Gene PubMed Count',NULL,7097,NULL,NULL,NULL,10,NULL,NULL,NULL),(28702,'NCBI Gene PubMed Count',NULL,7098,NULL,NULL,NULL,3,NULL,NULL,NULL),(28703,'NCBI Gene PubMed Count',NULL,7099,NULL,NULL,NULL,11,NULL,NULL,NULL),(28704,'NCBI Gene Summary',NULL,7100,NULL,'This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(28705,'NCBI Gene PubMed Count',NULL,7100,NULL,NULL,NULL,32,NULL,NULL,NULL),(28706,'NCBI Gene PubMed Count',NULL,7101,NULL,NULL,NULL,8,NULL,NULL,NULL),(28707,'NCBI Gene PubMed Count',NULL,7102,NULL,NULL,NULL,5,NULL,NULL,NULL),(28708,'NCBI Gene Summary',NULL,7103,NULL,'Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(28709,'NCBI Gene PubMed Count',NULL,7103,NULL,NULL,NULL,16,NULL,NULL,NULL),(28710,'NCBI Gene PubMed Count',NULL,7104,NULL,NULL,NULL,9,NULL,NULL,NULL),(28711,'NCBI Gene PubMed Count',NULL,7105,NULL,NULL,NULL,7,NULL,NULL,NULL),(28712,'NCBI Gene PubMed Count',NULL,7106,NULL,NULL,NULL,9,NULL,NULL,NULL),(28713,'NCBI Gene PubMed Count',NULL,7107,NULL,NULL,NULL,4,NULL,NULL,NULL),(28714,'NCBI Gene PubMed Count',NULL,7108,NULL,NULL,NULL,5,NULL,NULL,NULL),(28715,'NCBI Gene PubMed Count',NULL,7109,NULL,NULL,NULL,7,NULL,NULL,NULL),(28716,'NCBI Gene PubMed Count',NULL,7110,NULL,NULL,NULL,5,NULL,NULL,NULL),(28717,'NCBI Gene PubMed Count',NULL,7111,NULL,NULL,NULL,6,NULL,NULL,NULL),(28718,'NCBI Gene Summary',NULL,7112,NULL,'The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region on chromosome 17q21.2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28719,'NCBI Gene PubMed Count',NULL,7112,NULL,NULL,NULL,38,NULL,NULL,NULL),(28720,'NCBI Gene Summary',NULL,7113,NULL,'The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28721,'NCBI Gene PubMed Count',NULL,7113,NULL,NULL,NULL,49,NULL,NULL,NULL),(28722,'NCBI Gene Summary',NULL,7114,NULL,'The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28723,'NCBI Gene PubMed Count',NULL,7114,NULL,NULL,NULL,232,NULL,NULL,NULL),(28724,'NCBI Gene Summary',NULL,7115,NULL,'The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28725,'NCBI Gene PubMed Count',NULL,7115,NULL,NULL,NULL,91,NULL,NULL,NULL),(28726,'NCBI Gene Summary',NULL,7116,NULL,'The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(28727,'NCBI Gene PubMed Count',NULL,7116,NULL,NULL,NULL,20,NULL,NULL,NULL),(28728,'NCBI Gene Summary',NULL,7117,NULL,'This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(28729,'NCBI Gene PubMed Count',NULL,7117,NULL,NULL,NULL,8,NULL,NULL,NULL),(28730,'NCBI Gene Summary',NULL,7118,NULL,'This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(28731,'NCBI Gene PubMed Count',NULL,7118,NULL,NULL,NULL,9,NULL,NULL,NULL),(28732,'NCBI Gene Summary',NULL,7119,NULL,'The protein encoded by this gene is a member of the keratin superfamily. This keratin protein is a type I keratin that is specific for the inner root sheath of the hair follicle. This gene exists in a cluster with other keratin genes on chromosome 17q21. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(28733,'NCBI Gene PubMed Count',NULL,7119,NULL,NULL,NULL,5,NULL,NULL,NULL),(28734,'NCBI Gene Summary',NULL,7120,NULL,'This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(28735,'NCBI Gene PubMed Count',NULL,7120,NULL,NULL,NULL,6,NULL,NULL,NULL),(28736,'NCBI Gene Summary',NULL,7121,NULL,'This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(28737,'NCBI Gene PubMed Count',NULL,7121,NULL,NULL,NULL,3,NULL,NULL,NULL),(28738,'NCBI Gene Summary',NULL,7122,NULL,'This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(28739,'NCBI Gene PubMed Count',NULL,7122,NULL,NULL,NULL,5,NULL,NULL,NULL),(28740,'NCBI Gene Summary',NULL,7123,NULL,'This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(28741,'NCBI Gene PubMed Count',NULL,7123,NULL,NULL,NULL,9,NULL,NULL,NULL),(28742,'NCBI Gene Summary',NULL,7124,NULL,'This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28743,'NCBI Gene PubMed Count',NULL,7124,NULL,NULL,NULL,53,NULL,NULL,NULL),(28744,'NCBI Gene Summary',NULL,7125,NULL,'The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28745,'NCBI Gene PubMed Count',NULL,7125,NULL,NULL,NULL,18,NULL,NULL,NULL),(28746,'NCBI Gene Summary',NULL,7126,NULL,'The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28747,'NCBI Gene PubMed Count',NULL,7126,NULL,NULL,NULL,9,NULL,NULL,NULL),(28748,'NCBI Gene PubMed Count',NULL,7127,NULL,NULL,NULL,4,NULL,NULL,NULL),(28749,'NCBI Gene PubMed Count',NULL,7128,NULL,NULL,NULL,3,NULL,NULL,NULL),(28750,'NCBI Gene PubMed Count',NULL,7129,NULL,NULL,NULL,4,NULL,NULL,NULL),(28751,'NCBI Gene Summary',NULL,7130,NULL,'The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28752,'NCBI Gene PubMed Count',NULL,7130,NULL,NULL,NULL,37,NULL,NULL,NULL),(28753,'NCBI Gene Summary',NULL,7131,NULL,'Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(28754,'NCBI Gene PubMed Count',NULL,7131,NULL,NULL,NULL,7,NULL,NULL,NULL),(28755,'NCBI Gene Summary',NULL,7132,NULL,'Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in the skin and eccrine sweat glands. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(28756,'NCBI Gene PubMed Count',NULL,7132,NULL,NULL,NULL,7,NULL,NULL,NULL),(28757,'NCBI Gene Summary',NULL,7133,NULL,'The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28758,'NCBI Gene PubMed Count',NULL,7133,NULL,NULL,NULL,102,NULL,NULL,NULL),(28759,'NCBI Gene Summary',NULL,7134,NULL,'The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann\'s Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28760,'NCBI Gene PubMed Count',NULL,7134,NULL,NULL,NULL,13,NULL,NULL,NULL),(28761,'NCBI Gene Summary',NULL,7135,NULL,'The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28762,'NCBI Gene PubMed Count',NULL,7135,NULL,NULL,NULL,29,NULL,NULL,NULL),(28763,'NCBI Gene Summary',NULL,7136,NULL,'The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(28764,'NCBI Gene PubMed Count',NULL,7136,NULL,NULL,NULL,47,NULL,NULL,NULL),(28765,'NCBI Gene Summary',NULL,7137,NULL,'The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28766,'NCBI Gene PubMed Count',NULL,7137,NULL,NULL,NULL,19,NULL,NULL,NULL),(28767,'NCBI Gene Summary',NULL,7138,NULL,'Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(28768,'NCBI Gene PubMed Count',NULL,7138,NULL,NULL,NULL,15,NULL,NULL,NULL),(28769,'NCBI Gene Summary',NULL,7139,NULL,'Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(28770,'NCBI Gene PubMed Count',NULL,7139,NULL,NULL,NULL,8,NULL,NULL,NULL),(28771,'NCBI Gene Summary',NULL,7140,NULL,'Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(28772,'NCBI Gene PubMed Count',NULL,7140,NULL,NULL,NULL,10,NULL,NULL,NULL),(28773,'NCBI Gene Summary',NULL,7141,NULL,'This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28774,'NCBI Gene PubMed Count',NULL,7141,NULL,NULL,NULL,14,NULL,NULL,NULL),(28775,'NCBI Gene Summary',NULL,7142,NULL,'Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(28776,'NCBI Gene PubMed Count',NULL,7142,NULL,NULL,NULL,8,NULL,NULL,NULL),(28777,'NCBI Gene Summary',NULL,7143,NULL,'Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene\'s expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(28778,'NCBI Gene PubMed Count',NULL,7143,NULL,NULL,NULL,7,NULL,NULL,NULL),(28779,'NCBI Gene Summary',NULL,7144,NULL,'This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(28780,'NCBI Gene PubMed Count',NULL,7144,NULL,NULL,NULL,383,NULL,NULL,NULL),(28781,'NCBI Gene PubMed Count',NULL,7145,NULL,NULL,NULL,2,NULL,NULL,NULL),(28782,'NCBI Gene Summary',NULL,7146,NULL,'The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(28783,'NCBI Gene PubMed Count',NULL,7146,NULL,NULL,NULL,12,NULL,NULL,NULL),(28784,'NCBI Gene PubMed Count',NULL,7147,NULL,NULL,NULL,4,NULL,NULL,NULL),(28785,'NCBI Gene PubMed Count',NULL,7148,NULL,NULL,NULL,5,NULL,NULL,NULL),(28786,'NCBI Gene PubMed Count',NULL,7149,NULL,NULL,NULL,23,NULL,NULL,NULL),(28787,'NCBI Gene PubMed Count',NULL,7150,NULL,NULL,NULL,10,NULL,NULL,NULL),(28788,'NCBI Gene PubMed Count',NULL,7151,NULL,NULL,NULL,24,NULL,NULL,NULL),(28789,'NCBI Gene PubMed Count',NULL,7152,NULL,NULL,NULL,13,NULL,NULL,NULL),(28790,'NCBI Gene PubMed Count',NULL,7153,NULL,NULL,NULL,5,NULL,NULL,NULL),(28791,'NCBI Gene PubMed Count',NULL,7154,NULL,NULL,NULL,8,NULL,NULL,NULL),(28792,'NCBI Gene PubMed Count',NULL,7155,NULL,NULL,NULL,10,NULL,NULL,NULL),(28793,'NCBI Gene PubMed Count',NULL,7156,NULL,NULL,NULL,23,NULL,NULL,NULL),(28794,'NCBI Gene PubMed Count',NULL,7157,NULL,NULL,NULL,11,NULL,NULL,NULL),(28795,'NCBI Gene PubMed Count',NULL,7158,NULL,NULL,NULL,2,NULL,NULL,NULL),(28796,'NCBI Gene PubMed Count',NULL,7159,NULL,NULL,NULL,1,NULL,NULL,NULL),(28797,'NCBI Gene Summary',NULL,7160,NULL,'The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(28798,'NCBI Gene PubMed Count',NULL,7160,NULL,NULL,NULL,52,NULL,NULL,NULL),(28799,'NCBI Gene PubMed Count',NULL,7161,NULL,NULL,NULL,10,NULL,NULL,NULL),(28800,'NCBI Gene Summary',NULL,7162,NULL,'ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(28801,'NCBI Gene PubMed Count',NULL,7162,NULL,NULL,NULL,8,NULL,NULL,NULL),(28802,'NCBI Gene Summary',NULL,7163,NULL,'This gene encodes a member of the krueppel family of zinc finger proteins, suggesting a role as a transcription factor. Its specific function has not been determined. This gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28803,'NCBI Gene PubMed Count',NULL,7163,NULL,NULL,NULL,7,NULL,NULL,NULL),(28804,'NCBI Gene PubMed Count',NULL,7164,NULL,NULL,NULL,1,NULL,NULL,NULL),(28805,'NCBI Gene Summary',NULL,7165,NULL,'This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(28806,'NCBI Gene PubMed Count',NULL,7165,NULL,NULL,NULL,71,NULL,NULL,NULL),(28807,'NCBI Gene PubMed Count',NULL,7166,NULL,NULL,NULL,5,NULL,NULL,NULL),(28808,'NCBI Gene PubMed Count',NULL,7167,NULL,NULL,NULL,4,NULL,NULL,NULL),(28809,'NCBI Gene PubMed Count',NULL,7168,NULL,NULL,NULL,18,NULL,NULL,NULL),(28810,'NCBI Gene PubMed Count',NULL,7169,NULL,NULL,NULL,5,NULL,NULL,NULL),(28811,'NCBI Gene Summary',NULL,7170,NULL,'Kaposi\'s sarcoma-associated herpesvirus (KSHV) can be reactivated from latency by the viral protein RTA. The protein encoded by this gene is a zinc finger transcriptional repressor that interacts with RTA to modulate RTA-mediated reactivation of KSHV. While the encoded protein can repress KSHV reactivation, RTA can induce degradation of this protein through the ubiquitin-proteasome pathway to overcome the repression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(28812,'NCBI Gene PubMed Count',NULL,7170,NULL,NULL,NULL,12,NULL,NULL,NULL),(28813,'NCBI Gene PubMed Count',NULL,7171,NULL,NULL,NULL,6,NULL,NULL,NULL),(28814,'NCBI Gene PubMed Count',NULL,7172,NULL,NULL,NULL,4,NULL,NULL,NULL),(28815,'NCBI Gene PubMed Count',NULL,7173,NULL,NULL,NULL,2,NULL,NULL,NULL),(28816,'NCBI Gene PubMed Count',NULL,7174,NULL,NULL,NULL,8,NULL,NULL,NULL),(28817,'NCBI Gene PubMed Count',NULL,7175,NULL,NULL,NULL,4,NULL,NULL,NULL),(28818,'NCBI Gene PubMed Count',NULL,7176,NULL,NULL,NULL,11,NULL,NULL,NULL),(28819,'NCBI Gene PubMed Count',NULL,7177,NULL,NULL,NULL,6,NULL,NULL,NULL),(28820,'NCBI Gene PubMed Count',NULL,7178,NULL,NULL,NULL,14,NULL,NULL,NULL),(28821,'NCBI Gene Summary',NULL,7179,NULL,'The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(28822,'NCBI Gene PubMed Count',NULL,7179,NULL,NULL,NULL,11,NULL,NULL,NULL),(28823,'NCBI Gene PubMed Count',NULL,7180,NULL,NULL,NULL,4,NULL,NULL,NULL),(28824,'NCBI Gene PubMed Count',NULL,7181,NULL,NULL,NULL,4,NULL,NULL,NULL),(28825,'NCBI Gene PubMed Count',NULL,7182,NULL,NULL,NULL,4,NULL,NULL,NULL),(28826,'NCBI Gene Summary',NULL,7183,NULL,'This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family of proteins, and acts as a tight junction adaptor protein that also regulates adherens junctions. Tight junctions regulate the movement of ions and macromolecules between endothelial and epithelial cells. The multidomain structure of this scaffold protein, including a postsynaptic density 95/disc-large/zona occludens (PDZ) domain, a Src homology (SH3) domain, a guanylate kinase (GuK) domain and unique (U) motifs all help to co-ordinate binding of transmembrane proteins, cytosolic proteins, and F-actin, which are required for tight junction function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(28827,'NCBI Gene PubMed Count',NULL,7183,NULL,NULL,NULL,214,NULL,NULL,NULL),(28828,'NCBI Gene Summary',NULL,7184,NULL,'This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28829,'NCBI Gene PubMed Count',NULL,7184,NULL,NULL,NULL,17,NULL,NULL,NULL),(28830,'NCBI Gene PubMed Count',NULL,7185,NULL,NULL,NULL,5,NULL,NULL,NULL),(28831,'NCBI Gene PubMed Count',NULL,7186,NULL,NULL,NULL,9,NULL,NULL,NULL),(28832,'NCBI Gene PubMed Count',NULL,7187,NULL,NULL,NULL,6,NULL,NULL,NULL),(28833,'NCBI Gene PubMed Count',NULL,7188,NULL,NULL,NULL,2,NULL,NULL,NULL),(28834,'NCBI Gene PubMed Count',NULL,7189,NULL,NULL,NULL,6,NULL,NULL,NULL),(28835,'NCBI Gene PubMed Count',NULL,7190,NULL,NULL,NULL,5,NULL,NULL,NULL),(28836,'NCBI Gene PubMed Count',NULL,7191,NULL,NULL,NULL,5,NULL,NULL,NULL),(28837,'NCBI Gene Summary',NULL,7192,NULL,'This gene encodes a protein containing zinc finger motifs and a cysteine peptidase domain. The encoded protein functions as a K63-specific de-ubiquitinating enzyme that specifically cleaves long K63-linked polyubiquitin chains in the middle of a chain (i.e. \"endo cleavage) rather than by removing the terminal ubiquitin from a chain. This enzyme is thought to be involved in the regulation of DNA repair by cleaving K63-linked ubiquitin chains at repair foci. This protein is related to proteases for the ubiquitin-like modifiers Ufm1 (ubiquitin fold modifier 1) and Atg8/Gabarapl2, but does not have any activity on these modifiers. [provided by RefSeq, Mar 2018]',NULL,NULL,NULL,NULL,NULL),(28838,'NCBI Gene PubMed Count',NULL,7192,NULL,NULL,NULL,10,NULL,NULL,NULL),(28839,'NCBI Gene Summary',NULL,7193,NULL,'The ZNF91 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) subfamily (Bellefroid et al., 1991, 1993 [PubMed 2023909] [PubMed 8467795]).[supplied by OMIM, May 2010]',NULL,NULL,NULL,NULL,NULL),(28840,'NCBI Gene PubMed Count',NULL,7193,NULL,NULL,NULL,11,NULL,NULL,NULL),(28841,'NCBI Gene PubMed Count',NULL,7194,NULL,NULL,NULL,18,NULL,NULL,NULL),(28842,'NCBI Gene PubMed Count',NULL,7195,NULL,NULL,NULL,7,NULL,NULL,NULL),(28843,'NCBI Gene PubMed Count',NULL,7196,NULL,NULL,NULL,4,NULL,NULL,NULL),(28844,'NCBI Gene PubMed Count',NULL,7197,NULL,NULL,NULL,5,NULL,NULL,NULL),(28845,'NCBI Gene Summary',NULL,7198,NULL,'Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(28846,'NCBI Gene PubMed Count',NULL,7198,NULL,NULL,NULL,26,NULL,NULL,NULL),(28847,'NCBI Gene PubMed Count',NULL,7199,NULL,NULL,NULL,6,NULL,NULL,NULL),(28848,'NCBI Gene PubMed Count',NULL,7200,NULL,NULL,NULL,4,NULL,NULL,NULL),(28849,'NCBI Gene PubMed Count',NULL,7201,NULL,NULL,NULL,3,NULL,NULL,NULL),(28850,'NCBI Gene Summary',NULL,7202,NULL,'This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(28851,'NCBI Gene PubMed Count',NULL,7202,NULL,NULL,NULL,37,NULL,NULL,NULL),(28852,'NCBI Gene PubMed Count',NULL,7203,NULL,NULL,NULL,6,NULL,NULL,NULL),(28853,'NCBI Gene PubMed Count',NULL,7204,NULL,NULL,NULL,11,NULL,NULL,NULL),(28854,'NCBI Gene PubMed Count',NULL,7205,NULL,NULL,NULL,7,NULL,NULL,NULL),(28855,'NCBI Gene PubMed Count',NULL,7206,NULL,NULL,NULL,5,NULL,NULL,NULL),(28856,'NCBI Gene PubMed Count',NULL,7207,NULL,NULL,NULL,10,NULL,NULL,NULL),(28857,'NCBI Gene PubMed Count',NULL,7208,NULL,NULL,NULL,14,NULL,NULL,NULL),(28858,'NCBI Gene Summary',NULL,7209,NULL,'In human, ZIM2 and PEG3 (GeneID:5178) are two distinct genes that share a set of 5\' exons and have a common promoter, and both genes are paternally expressed. Alternative splicing events connect the shared exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. This is in contrast to mouse and cow, where ZIM2 and PEG3 genes do not share exons in common, and the imprinting status of ZIM2 is also not conserved amongst mammals. Additional 5\' alternatively spliced transcripts encoding the same protein have been found for the human ZIM2 gene. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(28859,'NCBI Gene PubMed Count',NULL,7209,NULL,NULL,NULL,5,NULL,NULL,NULL),(28860,'NCBI Gene Summary',NULL,7210,NULL,'This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(28861,'NCBI Gene PubMed Count',NULL,7210,NULL,NULL,NULL,29,NULL,NULL,NULL),(28862,'NCBI Gene Summary',NULL,7211,NULL,'The protein encoded by this gene belongs to the DHHC palmitoyltransferase family. Mutations in this gene are associated with mental retardatio X-linked type 91 (MRX91). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(28863,'NCBI Gene PubMed Count',NULL,7211,NULL,NULL,NULL,11,NULL,NULL,NULL),(28864,'NCBI Gene PubMed Count',NULL,7212,NULL,NULL,NULL,9,NULL,NULL,NULL),(28865,'NCBI Gene PubMed Count',NULL,7213,NULL,NULL,NULL,8,NULL,NULL,NULL),(28866,'NCBI Gene PubMed Count',NULL,7214,NULL,NULL,NULL,8,NULL,NULL,NULL),(28867,'NCBI Gene PubMed Count',NULL,7215,NULL,NULL,NULL,24,NULL,NULL,NULL),(28868,'NCBI Gene PubMed Count',NULL,7216,NULL,NULL,NULL,11,NULL,NULL,NULL),(28869,'NCBI Gene PubMed Count',NULL,7217,NULL,NULL,NULL,12,NULL,NULL,NULL),(28870,'NCBI Gene PubMed Count',NULL,7218,NULL,NULL,NULL,7,NULL,NULL,NULL),(28871,'NCBI Gene PubMed Count',NULL,7219,NULL,NULL,NULL,3,NULL,NULL,NULL),(28872,'NCBI Gene Summary',NULL,7220,NULL,'This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein functions as a transcriptional repressor that recruits a corepressor complex to stimulate promoter hypermethylation and transcriptional silencing of target genes. Expression of this gene is upregulated in colorectal, ovarian and breast cancer, and this gene may promote cancer cell survival, growth and invasion. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(28873,'NCBI Gene PubMed Count',NULL,7220,NULL,NULL,NULL,6,NULL,NULL,NULL),(28874,'NCBI Gene PubMed Count',NULL,7221,NULL,NULL,NULL,10,NULL,NULL,NULL),(28875,'NCBI Gene PubMed Count',NULL,7222,NULL,NULL,NULL,5,NULL,NULL,NULL),(28876,'NCBI Gene PubMed Count',NULL,7223,NULL,NULL,NULL,8,NULL,NULL,NULL),(28877,'NCBI Gene Summary',NULL,7224,NULL,'This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein may negatively regulate transcription of target genes, including the hedgehog signaling pathway receptor patched 1, by interacting with histone deacetylases. Mutations in this gene may be associated with non-syndromic facial clefting in human patients. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(28878,'NCBI Gene PubMed Count',NULL,7224,NULL,NULL,NULL,8,NULL,NULL,NULL),(28879,'NCBI Gene PubMed Count',NULL,7225,NULL,NULL,NULL,5,NULL,NULL,NULL),(28880,'NCBI Gene PubMed Count',NULL,7226,NULL,NULL,NULL,11,NULL,NULL,NULL),(28881,'NCBI Gene PubMed Count',NULL,7227,NULL,NULL,NULL,4,NULL,NULL,NULL),(28882,'NCBI Gene Summary',NULL,7228,NULL,'This gene belongs to the zinc finger protein family. Some members of this family bind to DNA by zinc-mediated secondary structures called zinc fingers, and are involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(28883,'NCBI Gene PubMed Count',NULL,7228,NULL,NULL,NULL,8,NULL,NULL,NULL),(28884,'NCBI Gene PubMed Count',NULL,7229,NULL,NULL,NULL,7,NULL,NULL,NULL),(28885,'NCBI Gene PubMed Count',NULL,7230,NULL,NULL,NULL,11,NULL,NULL,NULL),(28886,'NCBI Gene PubMed Count',NULL,7231,NULL,NULL,NULL,3,NULL,NULL,NULL),(28887,'NCBI Gene Summary',NULL,7232,NULL,'Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(28888,'NCBI Gene PubMed Count',NULL,7232,NULL,NULL,NULL,6,NULL,NULL,NULL),(28889,'NCBI Gene PubMed Count',NULL,7233,NULL,NULL,NULL,11,NULL,NULL,NULL),(28890,'NCBI Gene PubMed Count',NULL,7234,NULL,NULL,NULL,5,NULL,NULL,NULL),(28891,'NCBI Gene Summary',NULL,7235,NULL,'This gene encodes a nuclear protein that likely functions as a transcription factor. The protein includes an N-terminal SCAN domain, and seven C2H2-type zinc finger motifs. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(28892,'NCBI Gene PubMed Count',NULL,7235,NULL,NULL,NULL,9,NULL,NULL,NULL),(28893,'NCBI Gene Summary',NULL,7236,NULL,'This gene encodes a protein that contains KRAB-A and KRAB-B domains multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. An initial study suggested that this gene may be associated with X-linked cognitive disability, but a later study has called this finding into question (PMID:23871722).[provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(28894,'NCBI Gene PubMed Count',NULL,7236,NULL,NULL,NULL,12,NULL,NULL,NULL),(28895,'NCBI Gene PubMed Count',NULL,7237,NULL,NULL,NULL,17,NULL,NULL,NULL),(28896,'NCBI Gene PubMed Count',NULL,7238,NULL,NULL,NULL,7,NULL,NULL,NULL),(28897,'NCBI Gene PubMed Count',NULL,7239,NULL,NULL,NULL,8,NULL,NULL,NULL),(28898,'NCBI Gene Summary',NULL,7240,NULL,'The protein encoded by this gene contains a zinc finger, a nucleic acid-binding domain present in many transcription factors. This gene is located in a region next to ZNF23, a gene also encoding a zinc finger protein, on chromosome 16. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28899,'NCBI Gene PubMed Count',NULL,7240,NULL,NULL,NULL,12,NULL,NULL,NULL),(28900,'NCBI Gene PubMed Count',NULL,7241,NULL,NULL,NULL,2,NULL,NULL,NULL),(28901,'NCBI Gene PubMed Count',NULL,7242,NULL,NULL,NULL,2,NULL,NULL,NULL),(28902,'NCBI Gene PubMed Count',NULL,7243,NULL,NULL,NULL,6,NULL,NULL,NULL),(28903,'NCBI Gene PubMed Count',NULL,7244,NULL,NULL,NULL,13,NULL,NULL,NULL),(28904,'NCBI Gene PubMed Count',NULL,7245,NULL,NULL,NULL,4,NULL,NULL,NULL),(28905,'NCBI Gene Summary',NULL,7246,NULL,'The protein encoded by this gene is a zinc transporter that acts as a homodimer. The encoded protein plays a role in secreting zinc into breast milk. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(28906,'NCBI Gene PubMed Count',NULL,7246,NULL,NULL,NULL,28,NULL,NULL,NULL),(28907,'NCBI Gene PubMed Count',NULL,7247,NULL,NULL,NULL,9,NULL,NULL,NULL),(28908,'NCBI Gene PubMed Count',NULL,7248,NULL,NULL,NULL,11,NULL,NULL,NULL),(28909,'NCBI Gene Summary',NULL,7249,NULL,'This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(28910,'NCBI Gene PubMed Count',NULL,7249,NULL,NULL,NULL,25,NULL,NULL,NULL),(28911,'NCBI Gene Summary',NULL,7250,NULL,'The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 8 open reading frame 76 (C8orf76) gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(28912,'NCBI Gene PubMed Count',NULL,7250,NULL,NULL,NULL,31,NULL,NULL,NULL),(28913,'NCBI Gene PubMed Count',NULL,7251,NULL,NULL,NULL,10,NULL,NULL,NULL),(28914,'NCBI Gene Summary',NULL,7252,NULL,'This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(28915,'NCBI Gene PubMed Count',NULL,7252,NULL,NULL,NULL,40,NULL,NULL,NULL),(28916,'NCBI Gene PubMed Count',NULL,7253,NULL,NULL,NULL,3,NULL,NULL,NULL),(28917,'NCBI Gene PubMed Count',NULL,7254,NULL,NULL,NULL,9,NULL,NULL,NULL),(28918,'NCBI Gene Summary',NULL,7255,NULL,'The protein encoded by this gene is a KRAB-type zinc finger protein that negatively-regulates p53-mediated apoptosis. Under stress conditions, the encoded protein is phosphorylated by ATM and dissociates from p53, which activates p53 and initiates apoptosis. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(28919,'NCBI Gene PubMed Count',NULL,7255,NULL,NULL,NULL,11,NULL,NULL,NULL),(28920,'NCBI Gene PubMed Count',NULL,7256,NULL,NULL,NULL,6,NULL,NULL,NULL),(28921,'NCBI Gene PubMed Count',NULL,7257,NULL,NULL,NULL,8,NULL,NULL,NULL),(28922,'NCBI Gene PubMed Count',NULL,7258,NULL,NULL,NULL,7,NULL,NULL,NULL),(28923,'NCBI Gene PubMed Count',NULL,7259,NULL,NULL,NULL,21,NULL,NULL,NULL),(28924,'NCBI Gene Summary',NULL,7260,NULL,'This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28925,'NCBI Gene PubMed Count',NULL,7260,NULL,NULL,NULL,6,NULL,NULL,NULL),(28926,'NCBI Gene PubMed Count',NULL,7261,NULL,NULL,NULL,5,NULL,NULL,NULL),(28927,'NCBI Gene Summary',NULL,7262,NULL,'ZNF322A is a member of the zinc-finger transcription factor family and may regulate transcriptional activation in MAPK (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 [PubMed 15555580]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(28928,'NCBI Gene PubMed Count',NULL,7262,NULL,NULL,NULL,11,NULL,NULL,NULL),(28929,'NCBI Gene PubMed Count',NULL,7263,NULL,NULL,NULL,5,NULL,NULL,NULL),(28930,'NCBI Gene PubMed Count',NULL,7264,NULL,NULL,NULL,2,NULL,NULL,NULL),(28931,'NCBI Gene Summary',NULL,7265,NULL,'This gene encodes a zinc finger protein and belongs to the krueppel C2H2-type zinc-finger protein family. Zinc finger proteins are often localized in the nucleus, bind nucleic acids, and regulate transcription. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(28932,'NCBI Gene PubMed Count',NULL,7265,NULL,NULL,NULL,9,NULL,NULL,NULL),(28933,'NCBI Gene Summary',NULL,7266,NULL,'This gene encodes a zinc finger protein which activates transcription of a scavenger receptor gene involved in the degradation of acetylated low density lipoprotein (Ac-LDL) (PMID: 11978792). This gene is located in a cluster of zinc finger genes on chromosome 19 at q13.4. A pseudogene of this gene is located on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(28934,'NCBI Gene PubMed Count',NULL,7266,NULL,NULL,NULL,8,NULL,NULL,NULL),(28935,'NCBI Gene PubMed Count',NULL,7267,NULL,NULL,NULL,2,NULL,NULL,NULL),(28936,'NCBI Gene Summary',NULL,7268,NULL,'The protein encoded by this gene is a zinc finger protein that inhibits the transcription of mitogen-activated protein kinase signaling pathways. The encoded protein may be involved in cardiac function. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(28937,'NCBI Gene PubMed Count',NULL,7268,NULL,NULL,NULL,9,NULL,NULL,NULL),(28938,'NCBI Gene PubMed Count',NULL,7269,NULL,NULL,NULL,3,NULL,NULL,NULL),(28939,'NCBI Gene PubMed Count',NULL,7270,NULL,NULL,NULL,3,NULL,NULL,NULL),(28940,'NCBI Gene Summary',NULL,7271,NULL,'This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) domain at its N-terminus, followed by contiguous C2H2 zinc finger motifs. The encoded protein is a nuclear protein that can act as a transcriptional repressor of growth factor-mediated signaling pathways in a reporter gene assay. This protein has been shown to interact with the SRY-box 9 gene product, and suppresses its transcriptional activity by inhibiting its DNA binding activity. Reduced expression of this gene promotes chondrocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(28941,'NCBI Gene PubMed Count',NULL,7271,NULL,NULL,NULL,11,NULL,NULL,NULL),(28942,'NCBI Gene Summary',NULL,7272,NULL,'This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(28943,'NCBI Gene PubMed Count',NULL,7272,NULL,NULL,NULL,12,NULL,NULL,NULL),(28944,'NCBI Gene PubMed Count',NULL,7273,NULL,NULL,NULL,8,NULL,NULL,NULL),(28945,'NCBI Gene PubMed Count',NULL,7274,NULL,NULL,NULL,12,NULL,NULL,NULL),(28946,'NCBI Gene PubMed Count',NULL,7275,NULL,NULL,NULL,4,NULL,NULL,NULL),(28947,'NCBI Gene Summary',NULL,7276,NULL,'This gene encodes a protein with two C2H2 zinc finger motifs and a score-and-three (23)-amino acid peptide repeat (STPR) domain. The STPR domain of the encoded protein binds to double stranded DNA and may also contain a nuclear localization signal, suggesting that this protein interacts with chromosomal DNA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(28948,'NCBI Gene PubMed Count',NULL,7276,NULL,NULL,NULL,10,NULL,NULL,NULL),(28949,'NCBI Gene PubMed Count',NULL,7277,NULL,NULL,NULL,15,NULL,NULL,NULL),(28950,'NCBI Gene PubMed Count',NULL,7278,NULL,NULL,NULL,14,NULL,NULL,NULL),(28951,'NCBI Gene PubMed Count',NULL,7279,NULL,NULL,NULL,8,NULL,NULL,NULL),(28952,'NCBI Gene PubMed Count',NULL,7280,NULL,NULL,NULL,3,NULL,NULL,NULL),(28953,'NCBI Gene Summary',NULL,7281,NULL,'The ZXDB gene is one of a pair of duplicated zinc finger genes on chromosome Xp11.21 (Greig et al., 1993 [PubMed 8268913]); see also ZXDA (MIM 300235).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(28954,'NCBI Gene PubMed Count',NULL,7281,NULL,NULL,NULL,3,NULL,NULL,NULL),(28955,'NCBI Gene PubMed Count',NULL,7282,NULL,NULL,NULL,7,NULL,NULL,NULL),(28956,'NCBI Gene PubMed Count',NULL,7283,NULL,NULL,NULL,5,NULL,NULL,NULL),(28957,'NCBI Gene Summary',NULL,7284,NULL,'The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and infertility. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(28958,'NCBI Gene PubMed Count',NULL,7284,NULL,NULL,NULL,17,NULL,NULL,NULL),(28959,'NCBI Gene PubMed Count',NULL,7285,NULL,NULL,NULL,10,NULL,NULL,NULL),(28960,'NCBI Gene PubMed Count',NULL,7286,NULL,NULL,NULL,5,NULL,NULL,NULL),(28961,'NCBI Gene PubMed Count',NULL,7287,NULL,NULL,NULL,14,NULL,NULL,NULL),(28962,'NCBI Gene PubMed Count',NULL,7288,NULL,NULL,NULL,1,NULL,NULL,NULL),(28963,'NCBI Gene PubMed Count',NULL,7289,NULL,NULL,NULL,7,NULL,NULL,NULL),(28964,'NCBI Gene PubMed Count',NULL,7290,NULL,NULL,NULL,17,NULL,NULL,NULL),(28965,'NCBI Gene PubMed Count',NULL,7291,NULL,NULL,NULL,23,NULL,NULL,NULL),(28966,'NCBI Gene Summary',NULL,7292,NULL,'This gene encodes a member of the C2H2 zinc finger family. The encoded protein contains a Krueppel-associated box, fourteen C2H2 zinc finger domains, and four C2H2-type/integrase DNA-binding domains. Decreased expression of this gene may be a marker for rheumatoid arthritis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(28967,'NCBI Gene PubMed Count',NULL,7292,NULL,NULL,NULL,8,NULL,NULL,NULL),(28968,'NCBI Gene PubMed Count',NULL,7293,NULL,NULL,NULL,5,NULL,NULL,NULL),(28969,'NCBI Gene PubMed Count',NULL,7294,NULL,NULL,NULL,2,NULL,NULL,NULL),(28970,'NCBI Gene PubMed Count',NULL,7295,NULL,NULL,NULL,16,NULL,NULL,NULL),(28971,'NCBI Gene PubMed Count',NULL,7296,NULL,NULL,NULL,5,NULL,NULL,NULL),(28972,'NCBI Gene PubMed Count',NULL,7297,NULL,NULL,NULL,6,NULL,NULL,NULL),(28973,'NCBI Gene PubMed Count',NULL,7298,NULL,NULL,NULL,5,NULL,NULL,NULL),(28974,'NCBI Gene Summary',NULL,7299,NULL,'ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(28975,'NCBI Gene PubMed Count',NULL,7299,NULL,NULL,NULL,12,NULL,NULL,NULL),(28976,'NCBI Gene PubMed Count',NULL,7300,NULL,NULL,NULL,5,NULL,NULL,NULL),(28977,'NCBI Gene PubMed Count',NULL,7301,NULL,NULL,NULL,15,NULL,NULL,NULL),(28978,'NCBI Gene Summary',NULL,7302,NULL,'This gene encodes a krueppel C2H2-type zinc-finger protein family member. The encoded protein is expressed in several cancer cell types and may be a biomarker for early diagnosis of these cancers. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(28979,'NCBI Gene PubMed Count',NULL,7302,NULL,NULL,NULL,9,NULL,NULL,NULL),(28980,'NCBI Gene PubMed Count',NULL,7303,NULL,NULL,NULL,22,NULL,NULL,NULL),(28981,'NCBI Gene PubMed Count',NULL,7304,NULL,NULL,NULL,1,NULL,NULL,NULL),(28982,'NCBI Gene PubMed Count',NULL,7305,NULL,NULL,NULL,5,NULL,NULL,NULL),(28983,'NCBI Gene PubMed Count',NULL,7306,NULL,NULL,NULL,6,NULL,NULL,NULL),(28984,'NCBI Gene PubMed Count',NULL,7307,NULL,NULL,NULL,4,NULL,NULL,NULL),(28985,'NCBI Gene PubMed Count',NULL,7308,NULL,NULL,NULL,2,NULL,NULL,NULL),(28986,'NCBI Gene Summary',NULL,7309,NULL,'Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF protein 2 have been identified as a components of the mammalian 4EHP (m4EHP) complex. The complex is thought to function as a translation repressor in embryonic development. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(28987,'NCBI Gene PubMed Count',NULL,7309,NULL,NULL,NULL,11,NULL,NULL,NULL),(28988,'NCBI Gene PubMed Count',NULL,7310,NULL,NULL,NULL,5,NULL,NULL,NULL),(28989,'NCBI Gene PubMed Count',NULL,7311,NULL,NULL,NULL,7,NULL,NULL,NULL),(28990,'NCBI Gene PubMed Count',NULL,7312,NULL,NULL,NULL,9,NULL,NULL,NULL),(28991,'NCBI Gene PubMed Count',NULL,7313,NULL,NULL,NULL,8,NULL,NULL,NULL),(28992,'NCBI Gene Summary',NULL,7314,NULL,'This gene encodes a protein containing multiple C2H2-type zinc finger regions. Proteins containing zinc fingers may act as transcriptional regulators, but may also have other cellular functions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(28993,'NCBI Gene PubMed Count',NULL,7314,NULL,NULL,NULL,7,NULL,NULL,NULL),(28994,'NCBI Gene PubMed Count',NULL,7315,NULL,NULL,NULL,6,NULL,NULL,NULL),(28995,'NCBI Gene Summary',NULL,7316,NULL,'This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(28996,'NCBI Gene PubMed Count',NULL,7316,NULL,NULL,NULL,29,NULL,NULL,NULL),(28997,'NCBI Gene PubMed Count',NULL,7317,NULL,NULL,NULL,10,NULL,NULL,NULL),(28998,'NCBI Gene PubMed Count',NULL,7318,NULL,NULL,NULL,9,NULL,NULL,NULL),(28999,'NCBI Gene PubMed Count',NULL,7319,NULL,NULL,NULL,7,NULL,NULL,NULL),(29000,'NCBI Gene PubMed Count',NULL,7320,NULL,NULL,NULL,2,NULL,NULL,NULL),(29001,'NCBI Gene PubMed Count',NULL,7321,NULL,NULL,NULL,11,NULL,NULL,NULL),(29002,'NCBI Gene PubMed Count',NULL,7322,NULL,NULL,NULL,9,NULL,NULL,NULL),(29003,'NCBI Gene Summary',NULL,7323,NULL,'This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(29004,'NCBI Gene PubMed Count',NULL,7323,NULL,NULL,NULL,10,NULL,NULL,NULL),(29005,'NCBI Gene PubMed Count',NULL,7324,NULL,NULL,NULL,4,NULL,NULL,NULL),(29006,'NCBI Gene Summary',NULL,7325,NULL,'The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(29007,'NCBI Gene PubMed Count',NULL,7325,NULL,NULL,NULL,20,NULL,NULL,NULL),(29008,'NCBI Gene PubMed Count',NULL,7326,NULL,NULL,NULL,5,NULL,NULL,NULL),(29009,'NCBI Gene PubMed Count',NULL,7327,NULL,NULL,NULL,10,NULL,NULL,NULL),(29010,'NCBI Gene PubMed Count',NULL,7328,NULL,NULL,NULL,14,NULL,NULL,NULL),(29011,'NCBI Gene PubMed Count',NULL,7329,NULL,NULL,NULL,7,NULL,NULL,NULL),(29012,'NCBI Gene Summary',NULL,7330,NULL,'The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(29013,'NCBI Gene PubMed Count',NULL,7330,NULL,NULL,NULL,40,NULL,NULL,NULL),(29014,'NCBI Gene PubMed Count',NULL,7331,NULL,NULL,NULL,2,NULL,NULL,NULL),(29015,'NCBI Gene PubMed Count',NULL,7332,NULL,NULL,NULL,7,NULL,NULL,NULL),(29016,'NCBI Gene Summary',NULL,7333,NULL,'Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5\' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29017,'NCBI Gene PubMed Count',NULL,7333,NULL,NULL,NULL,9,NULL,NULL,NULL),(29018,'NCBI Gene PubMed Count',NULL,7334,NULL,NULL,NULL,8,NULL,NULL,NULL),(29019,'NCBI Gene Summary',NULL,7335,NULL,'This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29020,'NCBI Gene PubMed Count',NULL,7335,NULL,NULL,NULL,135,NULL,NULL,NULL),(29021,'NCBI Gene Summary',NULL,7336,NULL,'This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. The encoded protein may act as a transcriptional repressor. Studies in mouse and Xenopus support a role for this gene in neural crest development. Elevated expression of this gene has been observed in various human cancers and may contribute to cancer progression. This gene is closely linked to a related family member on chromosome 13. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(29022,'NCBI Gene PubMed Count',NULL,7336,NULL,NULL,NULL,16,NULL,NULL,NULL),(29023,'NCBI Gene Summary',NULL,7337,NULL,'This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(29024,'NCBI Gene PubMed Count',NULL,7337,NULL,NULL,NULL,23,NULL,NULL,NULL),(29025,'NCBI Gene PubMed Count',NULL,7338,NULL,NULL,NULL,8,NULL,NULL,NULL),(29026,'NCBI Gene PubMed Count',NULL,7339,NULL,NULL,NULL,15,NULL,NULL,NULL),(29027,'NCBI Gene PubMed Count',NULL,7340,NULL,NULL,NULL,7,NULL,NULL,NULL),(29028,'NCBI Gene Summary',NULL,7341,NULL,'This gene is a member of the Kruppel-like zinc finger gene family. The encoded protein functions as a transcriptional repressor of the high mobility group nucleosome binding domain 1 protein, which is associated with transcriptionally active chromatin. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(29029,'NCBI Gene PubMed Count',NULL,7341,NULL,NULL,NULL,14,NULL,NULL,NULL),(29030,'NCBI Gene PubMed Count',NULL,7342,NULL,NULL,NULL,8,NULL,NULL,NULL),(29031,'NCBI Gene Summary',NULL,7343,NULL,'This gene encodes an integral membrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein forms a complex with golgin subfamily A member 7 and functions as a palmitoyltransferase. This protein specifically palmitoylates HRAS and NRAS. Mutations in this gene are associated with X-linked cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(29032,'NCBI Gene PubMed Count',NULL,7343,NULL,NULL,NULL,28,NULL,NULL,NULL),(29033,'NCBI Gene Summary',NULL,7344,NULL,'This gene encodes a member of the zinc finger family of proteins. This gene shows decreased expression in cumulus cells derived from patients undergoing controlled ovarian stimulation. This gene is present in a gene cluster with several related zinc finger genes in the pericentromeric region of chromosome 10. Pseudogenes have been identified on chromosomes 7 and 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(29034,'NCBI Gene PubMed Count',NULL,7344,NULL,NULL,NULL,15,NULL,NULL,NULL),(29035,'NCBI Gene Summary',NULL,7345,NULL,'This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(29036,'NCBI Gene PubMed Count',NULL,7345,NULL,NULL,NULL,4,NULL,NULL,NULL),(29037,'NCBI Gene PubMed Count',NULL,7346,NULL,NULL,NULL,5,NULL,NULL,NULL),(29038,'NCBI Gene Summary',NULL,7347,NULL,'This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. The encoded protein inhibits activating protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) signaling and may function as a tumor suppressor in multiple carcinomas. This gene is found in a cluster with other zinc finger protein genes on the long arm of chromosome 19, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(29039,'NCBI Gene PubMed Count',NULL,7347,NULL,NULL,NULL,11,NULL,NULL,NULL),(29040,'NCBI Gene Summary',NULL,7348,NULL,'This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 11 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disabilities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(29041,'NCBI Gene PubMed Count',NULL,7348,NULL,NULL,NULL,5,NULL,NULL,NULL),(29042,'NCBI Gene PubMed Count',NULL,7349,NULL,NULL,NULL,4,NULL,NULL,NULL),(29043,'NCBI Gene PubMed Count',NULL,7350,NULL,NULL,NULL,7,NULL,NULL,NULL),(29044,'NCBI Gene Summary',NULL,7351,NULL,'This gene encodes a zinc finger protein that appears to be conserved in eutheria. Its function has not yet been established. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(29045,'NCBI Gene PubMed Count',NULL,7351,NULL,NULL,NULL,5,NULL,NULL,NULL),(29046,'NCBI Gene PubMed Count',NULL,7352,NULL,NULL,NULL,3,NULL,NULL,NULL),(29047,'NCBI Gene PubMed Count',NULL,7353,NULL,NULL,NULL,2,NULL,NULL,NULL),(29048,'NCBI Gene PubMed Count',NULL,7354,NULL,NULL,NULL,4,NULL,NULL,NULL),(29049,'NCBI Gene PubMed Count',NULL,7355,NULL,NULL,NULL,9,NULL,NULL,NULL),(29050,'NCBI Gene PubMed Count',NULL,7356,NULL,NULL,NULL,9,NULL,NULL,NULL),(29051,'NCBI Gene PubMed Count',NULL,7357,NULL,NULL,NULL,8,NULL,NULL,NULL),(29052,'NCBI Gene PubMed Count',NULL,7358,NULL,NULL,NULL,6,NULL,NULL,NULL),(29053,'NCBI Gene PubMed Count',NULL,7359,NULL,NULL,NULL,5,NULL,NULL,NULL),(29054,'NCBI Gene PubMed Count',NULL,7360,NULL,NULL,NULL,31,NULL,NULL,NULL),(29055,'NCBI Gene PubMed Count',NULL,7361,NULL,NULL,NULL,12,NULL,NULL,NULL),(29056,'NCBI Gene PubMed Count',NULL,7362,NULL,NULL,NULL,2,NULL,NULL,NULL),(29057,'NCBI Gene Summary',NULL,7363,NULL,'This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29058,'NCBI Gene PubMed Count',NULL,7363,NULL,NULL,NULL,6,NULL,NULL,NULL),(29059,'NCBI Gene PubMed Count',NULL,7364,NULL,NULL,NULL,5,NULL,NULL,NULL),(29060,'NCBI Gene PubMed Count',NULL,7365,NULL,NULL,NULL,7,NULL,NULL,NULL),(29061,'NCBI Gene PubMed Count',NULL,7366,NULL,NULL,NULL,8,NULL,NULL,NULL),(29062,'NCBI Gene PubMed Count',NULL,7367,NULL,NULL,NULL,5,NULL,NULL,NULL),(29063,'NCBI Gene Summary',NULL,7368,NULL,'The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(29064,'NCBI Gene PubMed Count',NULL,7368,NULL,NULL,NULL,108,NULL,NULL,NULL),(29065,'NCBI Gene Summary',NULL,7369,NULL,'This maternal effect gene is oocyte-specific and encodes a protein that is thought to function in the initiation of embryogenesis. A similar protein in mouse is required for female fertility. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(29066,'NCBI Gene PubMed Count',NULL,7369,NULL,NULL,NULL,11,NULL,NULL,NULL),(29067,'NCBI Gene PubMed Count',NULL,7370,NULL,NULL,NULL,7,NULL,NULL,NULL),(29068,'NCBI Gene PubMed Count',NULL,7371,NULL,NULL,NULL,5,NULL,NULL,NULL),(29069,'NCBI Gene PubMed Count',NULL,7372,NULL,NULL,NULL,17,NULL,NULL,NULL),(29070,'NCBI Gene PubMed Count',NULL,7373,NULL,NULL,NULL,5,NULL,NULL,NULL),(29071,'NCBI Gene Summary',NULL,7374,NULL,'This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(29072,'NCBI Gene PubMed Count',NULL,7374,NULL,NULL,NULL,51,NULL,NULL,NULL),(29073,'NCBI Gene PubMed Count',NULL,7375,NULL,NULL,NULL,5,NULL,NULL,NULL),(29074,'NCBI Gene Summary',NULL,7376,NULL,'This gene is expressed predominantly in the testis and encodes a zinc finger protein that contains an N-terminal kruppel-associated box A (KRABA) domain and twelve zinc finger domains. This gene is located within one of three regions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2), and is thought to play a role in the etiology of this disease. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(29075,'NCBI Gene PubMed Count',NULL,7376,NULL,NULL,NULL,10,NULL,NULL,NULL),(29076,'NCBI Gene Summary',NULL,7377,NULL,'This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(29077,'NCBI Gene PubMed Count',NULL,7377,NULL,NULL,NULL,46,NULL,NULL,NULL),(29078,'NCBI Gene PubMed Count',NULL,7378,NULL,NULL,NULL,7,NULL,NULL,NULL),(29079,'NCBI Gene PubMed Count',NULL,7379,NULL,NULL,NULL,13,NULL,NULL,NULL),(29080,'NCBI Gene PubMed Count',NULL,7380,NULL,NULL,NULL,17,NULL,NULL,NULL),(29081,'NCBI Gene PubMed Count',NULL,7381,NULL,NULL,NULL,8,NULL,NULL,NULL),(29082,'NCBI Gene Summary',NULL,7382,NULL,'The protein encoded by this gene is a Kruppel-related zinc finger protein which is characterized by the presence of an N-terminal repressor domain, the Kruppel-associated box (KRAB). The KRAB domain is a potent repressor of transcription; thus this protein may function in transcription regulation. Multiple transcript variants have been found for this gene. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(29083,'NCBI Gene PubMed Count',NULL,7382,NULL,NULL,NULL,11,NULL,NULL,NULL),(29084,'NCBI Gene PubMed Count',NULL,7383,NULL,NULL,NULL,11,NULL,NULL,NULL),(29085,'NCBI Gene PubMed Count',NULL,7384,NULL,NULL,NULL,4,NULL,NULL,NULL),(29086,'NCBI Gene PubMed Count',NULL,7385,NULL,NULL,NULL,8,NULL,NULL,NULL),(29087,'NCBI Gene PubMed Count',NULL,7386,NULL,NULL,NULL,7,NULL,NULL,NULL),(29088,'NCBI Gene PubMed Count',NULL,7387,NULL,NULL,NULL,17,NULL,NULL,NULL),(29089,'NCBI Gene PubMed Count',NULL,7388,NULL,NULL,NULL,9,NULL,NULL,NULL),(29090,'NCBI Gene Summary',NULL,7389,NULL,'The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(29091,'NCBI Gene PubMed Count',NULL,7389,NULL,NULL,NULL,9,NULL,NULL,NULL),(29092,'NCBI Gene PubMed Count',NULL,7390,NULL,NULL,NULL,7,NULL,NULL,NULL),(29093,'NCBI Gene PubMed Count',NULL,7391,NULL,NULL,NULL,8,NULL,NULL,NULL),(29094,'NCBI Gene Summary',NULL,7392,NULL,'This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and thirteen C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(29095,'NCBI Gene PubMed Count',NULL,7392,NULL,NULL,NULL,6,NULL,NULL,NULL),(29096,'NCBI Gene PubMed Count',NULL,7393,NULL,NULL,NULL,8,NULL,NULL,NULL),(29097,'NCBI Gene PubMed Count',NULL,7394,NULL,NULL,NULL,6,NULL,NULL,NULL),(29098,'NCBI Gene PubMed Count',NULL,7395,NULL,NULL,NULL,5,NULL,NULL,NULL),(29099,'NCBI Gene Summary',NULL,7396,NULL,'The protein encoded by this gene contains multiple tandem zinc finger motifs. The encoded protein is involved in the differentiation of erythroid and megakaryocytic cells. This gene is located in a cluster of related genes on chromosome 8 encoding zinc finger proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(29100,'NCBI Gene PubMed Count',NULL,7396,NULL,NULL,NULL,15,NULL,NULL,NULL),(29101,'NCBI Gene PubMed Count',NULL,7397,NULL,NULL,NULL,8,NULL,NULL,NULL),(29102,'NCBI Gene PubMed Count',NULL,7398,NULL,NULL,NULL,5,NULL,NULL,NULL),(29103,'NCBI Gene PubMed Count',NULL,7399,NULL,NULL,NULL,2,NULL,NULL,NULL),(29104,'NCBI Gene Summary',NULL,7400,NULL,'The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acromelic frontonasal dysostosis. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(29105,'NCBI Gene PubMed Count',NULL,7400,NULL,NULL,NULL,12,NULL,NULL,NULL),(29106,'NCBI Gene PubMed Count',NULL,7401,NULL,NULL,NULL,4,NULL,NULL,NULL),(29107,'NCBI Gene PubMed Count',NULL,7402,NULL,NULL,NULL,11,NULL,NULL,NULL),(29108,'NCBI Gene PubMed Count',NULL,7403,NULL,NULL,NULL,8,NULL,NULL,NULL),(29109,'NCBI Gene PubMed Count',NULL,7404,NULL,NULL,NULL,13,NULL,NULL,NULL),(29110,'NCBI Gene Summary',NULL,7405,NULL,'This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause an X-linked form of intellectual disability (MRX45). Microduplication of a region of chromosome X including this gene has also been associated with other forms of intellectual disability. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(29111,'NCBI Gene PubMed Count',NULL,7405,NULL,NULL,NULL,11,NULL,NULL,NULL),(29112,'NCBI Gene PubMed Count',NULL,7406,NULL,NULL,NULL,8,NULL,NULL,NULL),(29113,'NCBI Gene PubMed Count',NULL,7408,NULL,NULL,NULL,4,NULL,NULL,NULL),(29114,'NCBI Gene Summary',NULL,7409,NULL,'This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29115,'NCBI Gene PubMed Count',NULL,7409,NULL,NULL,NULL,19,NULL,NULL,NULL),(29116,'NCBI Gene PubMed Count',NULL,7410,NULL,NULL,NULL,17,NULL,NULL,NULL),(29117,'NCBI Gene PubMed Count',NULL,7411,NULL,NULL,NULL,5,NULL,NULL,NULL),(29118,'NCBI Gene PubMed Count',NULL,7412,NULL,NULL,NULL,3,NULL,NULL,NULL),(29119,'NCBI Gene PubMed Count',NULL,7413,NULL,NULL,NULL,6,NULL,NULL,NULL),(29120,'NCBI Gene Summary',NULL,7414,NULL,'This gene encodes a protein containing a Kruppel-associated box domain and multiple zinc finger domains. This protein may play a role in developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(29121,'NCBI Gene PubMed Count',NULL,7414,NULL,NULL,NULL,4,NULL,NULL,NULL),(29122,'NCBI Gene Summary',NULL,7415,NULL,'This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29123,'NCBI Gene PubMed Count',NULL,7415,NULL,NULL,NULL,11,NULL,NULL,NULL),(29124,'NCBI Gene PubMed Count',NULL,7416,NULL,NULL,NULL,16,NULL,NULL,NULL),(29125,'NCBI Gene PubMed Count',NULL,7417,NULL,NULL,NULL,13,NULL,NULL,NULL),(29126,'NCBI Gene Summary',NULL,7418,NULL,'This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(29127,'NCBI Gene PubMed Count',NULL,7418,NULL,NULL,NULL,34,NULL,NULL,NULL),(29128,'NCBI Gene PubMed Count',NULL,7419,NULL,NULL,NULL,3,NULL,NULL,NULL),(29129,'NCBI Gene PubMed Count',NULL,7420,NULL,NULL,NULL,9,NULL,NULL,NULL),(29130,'NCBI Gene Summary',NULL,7421,NULL,'This gene encodes a protein that belongs to the zinc finger Kruppel family of transcriptional regulators, whose members are thought to function in normal and abnormal cell growth and differentiation. Hypermethylation of this gene is associated with the recurrence of non muscle invasive bladder cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(29131,'NCBI Gene PubMed Count',NULL,7421,NULL,NULL,NULL,9,NULL,NULL,NULL),(29132,'NCBI Gene PubMed Count',NULL,7422,NULL,NULL,NULL,11,NULL,NULL,NULL),(29133,'NCBI Gene PubMed Count',NULL,7423,NULL,NULL,NULL,4,NULL,NULL,NULL),(29134,'NCBI Gene PubMed Count',NULL,7424,NULL,NULL,NULL,3,NULL,NULL,NULL),(29135,'NCBI Gene PubMed Count',NULL,7425,NULL,NULL,NULL,10,NULL,NULL,NULL),(29136,'NCBI Gene PubMed Count',NULL,7426,NULL,NULL,NULL,7,NULL,NULL,NULL),(29137,'NCBI Gene PubMed Count',NULL,7427,NULL,NULL,NULL,13,NULL,NULL,NULL),(29138,'NCBI Gene PubMed Count',NULL,7428,NULL,NULL,NULL,4,NULL,NULL,NULL),(29139,'NCBI Gene PubMed Count',NULL,7429,NULL,NULL,NULL,9,NULL,NULL,NULL),(29140,'NCBI Gene PubMed Count',NULL,7430,NULL,NULL,NULL,12,NULL,NULL,NULL),(29141,'NCBI Gene PubMed Count',NULL,7431,NULL,NULL,NULL,6,NULL,NULL,NULL),(29142,'NCBI Gene PubMed Count',NULL,7432,NULL,NULL,NULL,8,NULL,NULL,NULL),(29143,'NCBI Gene Summary',NULL,7433,NULL,'This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29144,'NCBI Gene PubMed Count',NULL,7433,NULL,NULL,NULL,16,NULL,NULL,NULL),(29145,'NCBI Gene PubMed Count',NULL,7434,NULL,NULL,NULL,11,NULL,NULL,NULL),(29146,'NCBI Gene PubMed Count',NULL,7435,NULL,NULL,NULL,5,NULL,NULL,NULL),(29147,'NCBI Gene PubMed Count',NULL,7436,NULL,NULL,NULL,6,NULL,NULL,NULL),(29148,'NCBI Gene Summary',NULL,7437,NULL,'This locus represents naturally occurring readthrough transcription between the endogenous retrovirus group 3 member 1 (ERV3-1) and the zinc finger protein 117 (ZNF117) genes on chromosome 7. Readthrough transcripts may encode the same protein as the ZNF117 gene. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(29149,'NCBI Gene PubMed Count',NULL,7437,NULL,NULL,NULL,7,NULL,NULL,NULL),(29150,'NCBI Gene PubMed Count',NULL,7438,NULL,NULL,NULL,6,NULL,NULL,NULL),(29151,'NCBI Gene PubMed Count',NULL,7439,NULL,NULL,NULL,24,NULL,NULL,NULL),(29152,'NCBI Gene PubMed Count',NULL,7440,NULL,NULL,NULL,9,NULL,NULL,NULL),(29153,'NCBI Gene PubMed Count',NULL,7441,NULL,NULL,NULL,5,NULL,NULL,NULL),(29154,'NCBI Gene PubMed Count',NULL,7442,NULL,NULL,NULL,2,NULL,NULL,NULL),(29155,'NCBI Gene Summary',NULL,7443,NULL,'The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29156,'NCBI Gene PubMed Count',NULL,7443,NULL,NULL,NULL,11,NULL,NULL,NULL),(29157,'NCBI Gene PubMed Count',NULL,7444,NULL,NULL,NULL,11,NULL,NULL,NULL),(29158,'NCBI Gene PubMed Count',NULL,7445,NULL,NULL,NULL,16,NULL,NULL,NULL),(29159,'NCBI Gene PubMed Count',NULL,7446,NULL,NULL,NULL,16,NULL,NULL,NULL),(29160,'NCBI Gene PubMed Count',NULL,7447,NULL,NULL,NULL,18,NULL,NULL,NULL),(29161,'NCBI Gene Summary',NULL,7448,NULL,'ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM, May 2010]',NULL,NULL,NULL,NULL,NULL),(29162,'NCBI Gene PubMed Count',NULL,7448,NULL,NULL,NULL,16,NULL,NULL,NULL),(29163,'NCBI Gene Summary',NULL,7449,NULL,'The protein encoded by this gene is a zinc finger protein that may be a tumor suppressor. Defects in this gene have been associated with autosomal recessive postaxial polydactyly type A. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(29164,'NCBI Gene PubMed Count',NULL,7449,NULL,NULL,NULL,9,NULL,NULL,NULL),(29165,'NCBI Gene Summary',NULL,7450,NULL,'This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(29166,'NCBI Gene PubMed Count',NULL,7450,NULL,NULL,NULL,17,NULL,NULL,NULL),(29167,'NCBI Gene PubMed Count',NULL,7451,NULL,NULL,NULL,9,NULL,NULL,NULL),(29168,'NCBI Gene PubMed Count',NULL,7452,NULL,NULL,NULL,19,NULL,NULL,NULL),(29169,'NCBI Gene PubMed Count',NULL,7453,NULL,NULL,NULL,8,NULL,NULL,NULL),(29170,'NCBI Gene Summary',NULL,7454,NULL,'The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(29171,'NCBI Gene PubMed Count',NULL,7454,NULL,NULL,NULL,19,NULL,NULL,NULL),(29172,'NCBI Gene PubMed Count',NULL,7455,NULL,NULL,NULL,1,NULL,NULL,NULL),(29173,'NCBI Gene PubMed Count',NULL,7456,NULL,NULL,NULL,7,NULL,NULL,NULL),(29174,'NCBI Gene PubMed Count',NULL,7457,NULL,NULL,NULL,4,NULL,NULL,NULL),(29175,'NCBI Gene PubMed Count',NULL,7458,NULL,NULL,NULL,5,NULL,NULL,NULL),(29176,'NCBI Gene PubMed Count',NULL,7459,NULL,NULL,NULL,6,NULL,NULL,NULL),(29177,'NCBI Gene Summary',NULL,7460,NULL,'The protein encoded by this gene contains a zinc finger and a Kruppel-associated box (KRAB) domain. KRAB domain is known to be involved in the transcriptional repression of a number of zinc finger proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29178,'NCBI Gene PubMed Count',NULL,7460,NULL,NULL,NULL,7,NULL,NULL,NULL),(29179,'NCBI Gene Summary',NULL,7461,NULL,'Zinc finger proteins (ZNFs), such as ZNF101, bind nucleic acids and perform many key functions, the most important of which is regulating transcription (summary by Bellefroid et al., 1993 [PubMed 8467795]). See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(29180,'NCBI Gene PubMed Count',NULL,7461,NULL,NULL,NULL,14,NULL,NULL,NULL),(29181,'NCBI Gene PubMed Count',NULL,7462,NULL,NULL,NULL,6,NULL,NULL,NULL),(29182,'NCBI Gene PubMed Count',NULL,7463,NULL,NULL,NULL,13,NULL,NULL,NULL),(29183,'NCBI Gene PubMed Count',NULL,7464,NULL,NULL,NULL,9,NULL,NULL,NULL),(29184,'NCBI Gene PubMed Count',NULL,7465,NULL,NULL,NULL,5,NULL,NULL,NULL),(29185,'NCBI Gene Summary',NULL,7466,NULL,'This gene encodes a member of the YTH (YT521-B homology) superfamily containing YTH domain. The YTH domain is typical for the eukaryotes and is particularly abundant in plants. The YTH domain is usually located in the middle of the protein sequence and may function in binding to RNA. In addition to a YTH domain, this protein has a proline rich region which may be involved in signal transduction. An Alu-rich domain has been identified in one of the introns of this gene, which is thought to be associated with human longevity. In addition, reciprocal translocations between this gene and the Runx1 (AML1) gene on chromosome 21 has been observed in patients with acute myeloid leukemia. This gene was initially mapped to chromosome 14, which was later turned out to be a pseudogene. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(29186,'NCBI Gene PubMed Count',NULL,7466,NULL,NULL,NULL,22,NULL,NULL,NULL),(29187,'NCBI Gene PubMed Count',NULL,7467,NULL,NULL,NULL,4,NULL,NULL,NULL),(29188,'NCBI Gene PubMed Count',NULL,7468,NULL,NULL,NULL,11,NULL,NULL,NULL),(29189,'NCBI Gene PubMed Count',NULL,7469,NULL,NULL,NULL,30,NULL,NULL,NULL),(29190,'NCBI Gene PubMed Count',NULL,7470,NULL,NULL,NULL,10,NULL,NULL,NULL),(29191,'NCBI Gene PubMed Count',NULL,7471,NULL,NULL,NULL,4,NULL,NULL,NULL),(29192,'NCBI Gene Summary',NULL,7472,NULL,'This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(29193,'NCBI Gene PubMed Count',NULL,7472,NULL,NULL,NULL,48,NULL,NULL,NULL),(29194,'NCBI Gene PubMed Count',NULL,7473,NULL,NULL,NULL,18,NULL,NULL,NULL),(29195,'NCBI Gene Summary',NULL,7474,NULL,'This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(29196,'NCBI Gene PubMed Count',NULL,7474,NULL,NULL,NULL,6,NULL,NULL,NULL),(29197,'NCBI Gene PubMed Count',NULL,7475,NULL,NULL,NULL,4,NULL,NULL,NULL),(29198,'NCBI Gene PubMed Count',NULL,7476,NULL,NULL,NULL,13,NULL,NULL,NULL),(29199,'NCBI Gene PubMed Count',NULL,7477,NULL,NULL,NULL,3,NULL,NULL,NULL),(29200,'NCBI Gene Summary',NULL,7478,NULL,'This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(29201,'NCBI Gene PubMed Count',NULL,7478,NULL,NULL,NULL,24,NULL,NULL,NULL),(29202,'NCBI Gene Summary',NULL,7479,NULL,'This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(29203,'NCBI Gene PubMed Count',NULL,7479,NULL,NULL,NULL,26,NULL,NULL,NULL),(29204,'NCBI Gene Summary',NULL,7480,NULL,'The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(29205,'NCBI Gene PubMed Count',NULL,7480,NULL,NULL,NULL,61,NULL,NULL,NULL),(29206,'NCBI Gene Summary',NULL,7481,NULL,'This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29207,'NCBI Gene PubMed Count',NULL,7481,NULL,NULL,NULL,23,NULL,NULL,NULL),(29208,'NCBI Gene PubMed Count',NULL,7482,NULL,NULL,NULL,10,NULL,NULL,NULL),(29209,'NCBI Gene PubMed Count',NULL,7483,NULL,NULL,NULL,11,NULL,NULL,NULL),(29210,'NCBI Gene PubMed Count',NULL,7484,NULL,NULL,NULL,7,NULL,NULL,NULL),(29211,'NCBI Gene PubMed Count',NULL,7485,NULL,NULL,NULL,6,NULL,NULL,NULL),(29212,'NCBI Gene PubMed Count',NULL,7486,NULL,NULL,NULL,9,NULL,NULL,NULL),(29213,'NCBI Gene PubMed Count',NULL,7487,NULL,NULL,NULL,18,NULL,NULL,NULL),(29214,'NCBI Gene Summary',NULL,7488,NULL,'This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 559 (ZNF559) and zinc finger protein 177 (ZNF177) genes on chromosome 19. Alternative splicing results in multiple transcript variants, which encode the ZNF177 protein due to either leaky scanning by ribosomes, or absence of the ZNF559 start codon. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(29215,'NCBI Gene PubMed Count',NULL,7488,NULL,NULL,NULL,8,NULL,NULL,NULL),(29216,'NCBI Gene Summary',NULL,7489,NULL,'The protein encoded by this gene is a C2H2-type zinc finger DNA binding protein and likely transcriptional regulator. The function of this protein is not yet known. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(29217,'NCBI Gene PubMed Count',NULL,7489,NULL,NULL,NULL,16,NULL,NULL,NULL),(29218,'NCBI Gene Summary',NULL,7490,NULL,'This gene is located on the X chromosome and is subject to X inactivation. It is highly conserved in vertebrates and most abundantly expressed in the brain. The encoded protein is a component of histone deacetylase-containing multiprotein complexes that function through modifying chromatin structure to keep genes silent. A chromosomal translocation (X;13) involving this gene is associated with X-linked cognitive disability. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(29219,'NCBI Gene PubMed Count',NULL,7490,NULL,NULL,NULL,17,NULL,NULL,NULL),(29220,'NCBI Gene Summary',NULL,7491,NULL,'Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(29221,'NCBI Gene PubMed Count',NULL,7491,NULL,NULL,NULL,9,NULL,NULL,NULL),(29222,'NCBI Gene Summary',NULL,7492,NULL,'MOK2 proteins are DNA- and RNA-binding proteins that are mainly associated with nuclear RNP components, including the nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed 9121460]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(29223,'NCBI Gene PubMed Count',NULL,7492,NULL,NULL,NULL,18,NULL,NULL,NULL),(29224,'NCBI Gene Summary',NULL,7493,NULL,'This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(29225,'NCBI Gene PubMed Count',NULL,7493,NULL,NULL,NULL,15,NULL,NULL,NULL),(29226,'NCBI Gene PubMed Count',NULL,7494,NULL,NULL,NULL,6,NULL,NULL,NULL),(29227,'NCBI Gene Summary',NULL,7495,NULL,'The protein encoded by this gene is a zing finger protein and putative transcription factor that is highly methylated in cervical cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(29228,'NCBI Gene PubMed Count',NULL,7495,NULL,NULL,NULL,14,NULL,NULL,NULL),(29229,'NCBI Gene PubMed Count',NULL,7496,NULL,NULL,NULL,5,NULL,NULL,NULL),(29230,'NCBI Gene Summary',NULL,7497,NULL,'This locus represents naturally occurring read-through transcription between the zinc finger protein 816 (ZNF816) gene and the zinc finger protein 321 (ZNF321) pseudogene on chromosome 19. The read-through transcript encodes a KRAB domain-containing protein that shares sequence identity with the upstream gene product, but it contains a distinct C-terminus encoded by exon structure from the downstream pseudogene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(29231,'NCBI Gene PubMed Count',NULL,7497,NULL,NULL,NULL,5,NULL,NULL,NULL),(29232,'NCBI Gene PubMed Count',NULL,7498,NULL,NULL,NULL,5,NULL,NULL,NULL),(29233,'NCBI Gene Summary',NULL,7499,NULL,'This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(29234,'NCBI Gene PubMed Count',NULL,7499,NULL,NULL,NULL,14,NULL,NULL,NULL),(29235,'NCBI Gene PubMed Count',NULL,7500,NULL,NULL,NULL,8,NULL,NULL,NULL),(29236,'NCBI Gene PubMed Count',NULL,7501,NULL,NULL,NULL,13,NULL,NULL,NULL),(29237,'NCBI Gene Summary',NULL,7502,NULL,'This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(29238,'NCBI Gene PubMed Count',NULL,7502,NULL,NULL,NULL,6,NULL,NULL,NULL),(29239,'NCBI Gene PubMed Count',NULL,7503,NULL,NULL,NULL,7,NULL,NULL,NULL),(29240,'NCBI Gene PubMed Count',NULL,7504,NULL,NULL,NULL,4,NULL,NULL,NULL),(29241,'NCBI Gene PubMed Count',NULL,7505,NULL,NULL,NULL,2,NULL,NULL,NULL),(29242,'NCBI Gene PubMed Count',NULL,7506,NULL,NULL,NULL,5,NULL,NULL,NULL),(29243,'NCBI Gene PubMed Count',NULL,7507,NULL,NULL,NULL,4,NULL,NULL,NULL),(29244,'NCBI Gene PubMed Count',NULL,7508,NULL,NULL,NULL,4,NULL,NULL,NULL),(29245,'NCBI Gene PubMed Count',NULL,7509,NULL,NULL,NULL,5,NULL,NULL,NULL),(29246,'NCBI Gene Summary',NULL,7510,NULL,'Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(29247,'NCBI Gene PubMed Count',NULL,7510,NULL,NULL,NULL,13,NULL,NULL,NULL),(29248,'NCBI Gene PubMed Count',NULL,7511,NULL,NULL,NULL,11,NULL,NULL,NULL),(29249,'NCBI Gene Summary',NULL,7512,NULL,'The protein encoded by this gene is a zinc finger protein whose function has not yet been elucidated in humans. However, the mouse ortholog of this protein enhances adipocyte differentiation and suppresses osteoblast differentiation in bone marrow. The mouse protein also is a transcription factor for several genes and can help recruit histone deacetylase complexes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(29250,'NCBI Gene PubMed Count',NULL,7512,NULL,NULL,NULL,6,NULL,NULL,NULL),(29251,'NCBI Gene Summary',NULL,7513,NULL,'The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29252,'NCBI Gene PubMed Count',NULL,7513,NULL,NULL,NULL,41,NULL,NULL,NULL),(29253,'NCBI Gene PubMed Count',NULL,7514,NULL,NULL,NULL,8,NULL,NULL,NULL),(29254,'NCBI Gene Summary',NULL,7515,NULL,'This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(29255,'NCBI Gene PubMed Count',NULL,7515,NULL,NULL,NULL,12,NULL,NULL,NULL),(29256,'NCBI Gene PubMed Count',NULL,7516,NULL,NULL,NULL,7,NULL,NULL,NULL),(29257,'NCBI Gene PubMed Count',NULL,7517,NULL,NULL,NULL,14,NULL,NULL,NULL),(29258,'NCBI Gene PubMed Count',NULL,7518,NULL,NULL,NULL,2,NULL,NULL,NULL),(29259,'NCBI Gene PubMed Count',NULL,7519,NULL,NULL,NULL,6,NULL,NULL,NULL),(29260,'NCBI Gene Summary',NULL,7520,NULL,'The protein encoded by this gene is a G-protein coupled receptor involved in taste responses. The encoded protein can form a heterodimeric receptor with TAS1R1 to elicit the umami taste response, or it can bind with TAS1R2 to form a receptor for the sweet taste response. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(29261,'NCBI Gene PubMed Count',NULL,7520,NULL,NULL,NULL,48,NULL,NULL,NULL),(29262,'NCBI Gene Summary',NULL,7521,NULL,'Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29263,'NCBI Gene PubMed Count',NULL,7521,NULL,NULL,NULL,337,NULL,NULL,NULL),(29264,'NCBI Gene Summary',NULL,7522,NULL,'This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer\'s disease in human patients. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(29265,'NCBI Gene PubMed Count',NULL,7522,NULL,NULL,NULL,27,NULL,NULL,NULL),(29266,'NCBI Gene Summary',NULL,7523,NULL,'This gene encodes a member of the transmembrane 4 superfamily. It is characterized by four tetraspanin transmembrane segments. The function of this gene has not yet been determined. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(29267,'NCBI Gene PubMed Count',NULL,7523,NULL,NULL,NULL,11,NULL,NULL,NULL),(29268,'NCBI Gene PubMed Count',NULL,7524,NULL,NULL,NULL,15,NULL,NULL,NULL),(29269,'NCBI Gene PubMed Count',NULL,7525,NULL,NULL,NULL,4,NULL,NULL,NULL),(29270,'NCBI Gene Summary',NULL,7526,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29271,'NCBI Gene PubMed Count',NULL,7526,NULL,NULL,NULL,34,NULL,NULL,NULL),(29272,'NCBI Gene Summary',NULL,7527,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(29273,'NCBI Gene PubMed Count',NULL,7527,NULL,NULL,NULL,19,NULL,NULL,NULL),(29274,'NCBI Gene Summary',NULL,7528,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(29275,'NCBI Gene PubMed Count',NULL,7528,NULL,NULL,NULL,17,NULL,NULL,NULL),(29276,'NCBI Gene Summary',NULL,7529,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29277,'NCBI Gene PubMed Count',NULL,7529,NULL,NULL,NULL,14,NULL,NULL,NULL),(29278,'NCBI Gene Summary',NULL,7530,NULL,'This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(29279,'NCBI Gene PubMed Count',NULL,7530,NULL,NULL,NULL,40,NULL,NULL,NULL),(29280,'NCBI Gene Summary',NULL,7531,NULL,'The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Many functional paralogs and pseudogenes of this gene are present in a cluster in humans, but only a single, nonfunctional orthologous gene is found in mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(29281,'NCBI Gene PubMed Count',NULL,7531,NULL,NULL,NULL,54,NULL,NULL,NULL),(29282,'NCBI Gene PubMed Count',NULL,7532,NULL,NULL,NULL,2,NULL,NULL,NULL),(29283,'NCBI Gene PubMed Count',NULL,7533,NULL,NULL,NULL,1,NULL,NULL,NULL),(29284,'NCBI Gene PubMed Count',NULL,7534,NULL,NULL,NULL,3,NULL,NULL,NULL),(29285,'NCBI Gene Summary',NULL,7535,NULL,'The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(29286,'NCBI Gene PubMed Count',NULL,7535,NULL,NULL,NULL,19,NULL,NULL,NULL),(29287,'NCBI Gene Summary',NULL,7536,NULL,'The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. It is involved in local signaling in the developing and adult nervous system, and it contributes to spinal sensitization and neuropathic pain states. This gene is activated during the stromal response to invasive breast cancer. It may also play a role in inflammatory responses in Alzheimer\'s disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(29288,'NCBI Gene PubMed Count',NULL,7536,NULL,NULL,NULL,62,NULL,NULL,NULL),(29289,'NCBI Gene Summary',NULL,7537,NULL,'TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(29290,'NCBI Gene PubMed Count',NULL,7537,NULL,NULL,NULL,11,NULL,NULL,NULL),(29291,'NCBI Gene Summary',NULL,7538,NULL,'Summary:This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them. Genetic variants in this gene are associated with Alzheimer\'s disease. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(29292,'NCBI Gene PubMed Count',NULL,7538,NULL,NULL,NULL,22,NULL,NULL,NULL),(29293,'NCBI Gene PubMed Count',NULL,7539,NULL,NULL,NULL,15,NULL,NULL,NULL),(29294,'NCBI Gene PubMed Count',NULL,7540,NULL,NULL,NULL,4,NULL,NULL,NULL),(29295,'NCBI Gene Summary',NULL,7541,NULL,'This intronless gene encodes a member of the CAMK (calcium/calmodulin-dependent) serine/threonine protein kinase family. The encoded kinase has a broad expression pattern but is described as testis-specific due to effects on fertility. Male mice which lack the gene encoding a highly similar protein are sterile and have morphologically abnormal sperm. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(29296,'NCBI Gene PubMed Count',NULL,7541,NULL,NULL,NULL,12,NULL,NULL,NULL),(29297,'NCBI Gene Summary',NULL,7542,NULL,'This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(29298,'NCBI Gene PubMed Count',NULL,7542,NULL,NULL,NULL,16,NULL,NULL,NULL),(29299,'NCBI Gene Summary',NULL,7543,NULL,'This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(29300,'NCBI Gene PubMed Count',NULL,7543,NULL,NULL,NULL,18,NULL,NULL,NULL),(29301,'NCBI Gene PubMed Count',NULL,7544,NULL,NULL,NULL,7,NULL,NULL,NULL),(29302,'NCBI Gene PubMed Count',NULL,7545,NULL,NULL,NULL,9,NULL,NULL,NULL),(29303,'NCBI Gene PubMed Count',NULL,7546,NULL,NULL,NULL,11,NULL,NULL,NULL),(29304,'NCBI Gene PubMed Count',NULL,7547,NULL,NULL,NULL,4,NULL,NULL,NULL),(29305,'NCBI Gene Summary',NULL,7548,NULL,'The protein encoded by this gene has three tetratricopeptide repeats and is a chaperone for heat shock protein 70. The encoded protein may function as a tumor suppressor in hepatocellular carcinoma (HCC) since it promotes apoptosis but is downregulated in HCC. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(29306,'NCBI Gene PubMed Count',NULL,7548,NULL,NULL,NULL,4,NULL,NULL,NULL),(29307,'NCBI Gene Summary',NULL,7549,NULL,'This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias \'TFF1\' with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(29308,'NCBI Gene PubMed Count',NULL,7549,NULL,NULL,NULL,26,NULL,NULL,NULL),(29309,'NCBI Gene PubMed Count',NULL,7550,NULL,NULL,NULL,7,NULL,NULL,NULL),(29310,'NCBI Gene Summary',NULL,7551,NULL,'TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(29311,'NCBI Gene PubMed Count',NULL,7551,NULL,NULL,NULL,9,NULL,NULL,NULL),(29312,'NCBI Gene PubMed Count',NULL,7552,NULL,NULL,NULL,14,NULL,NULL,NULL),(29313,'NCBI Gene PubMed Count',NULL,7553,NULL,NULL,NULL,5,NULL,NULL,NULL),(29314,'NCBI Gene PubMed Count',NULL,7554,NULL,NULL,NULL,178,NULL,NULL,NULL),(29315,'NCBI Gene Summary',NULL,7555,NULL,'TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29316,'NCBI Gene PubMed Count',NULL,7555,NULL,NULL,NULL,7,NULL,NULL,NULL),(29317,'NCBI Gene Summary',NULL,7556,NULL,'This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(29318,'NCBI Gene PubMed Count',NULL,7556,NULL,NULL,NULL,243,NULL,NULL,NULL),(29319,'NCBI Gene Summary',NULL,7557,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain, a transmembrane domain, and a truncated cytoplamic death domain. This receptor does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL-induced cell apoptosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29320,'NCBI Gene PubMed Count',NULL,7557,NULL,NULL,NULL,58,NULL,NULL,NULL),(29321,'NCBI Gene PubMed Count',NULL,7558,NULL,NULL,NULL,10,NULL,NULL,NULL),(29322,'NCBI Gene Summary',NULL,7559,NULL,'This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(29323,'NCBI Gene PubMed Count',NULL,7559,NULL,NULL,NULL,103,NULL,NULL,NULL),(29324,'NCBI Gene Summary',NULL,7560,NULL,'This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29325,'NCBI Gene PubMed Count',NULL,7560,NULL,NULL,NULL,25,NULL,NULL,NULL),(29326,'NCBI Gene Summary',NULL,7561,NULL,'This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(29327,'NCBI Gene PubMed Count',NULL,7561,NULL,NULL,NULL,20,NULL,NULL,NULL),(29328,'NCBI Gene Summary',NULL,7562,NULL,'This gene encodes tissue-type plasminogen activator, a secreted serine protease that converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. The encoded preproprotein is proteolytically processed by plasmin or trypsin to generate heavy and light chains. These chains associate via disulfide linkages to form the heterodimeric enzyme. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding, while decreased activity leads to hypofibrinolysis, which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(29329,'NCBI Gene PubMed Count',NULL,7562,NULL,NULL,NULL,348,NULL,NULL,NULL),(29330,'NCBI Gene Summary',NULL,7563,NULL,'Megakaryocytopoiesis is the cellular development process that leads to platelet production. The main functional protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1. Alternative promoter usage and differential splicing result in multiple transcript variants differing in the 5\' UTR and/or coding region. Multiple AUG codons upstream of the main open reading frame (ORF) have been identified, and these upstream AUGs inhibit translation of the main ORF at different extent. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(29331,'NCBI Gene PubMed Count',NULL,7563,NULL,NULL,NULL,130,NULL,NULL,NULL),(29332,'NCBI Gene Summary',NULL,7564,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29333,'NCBI Gene PubMed Count',NULL,7564,NULL,NULL,NULL,221,NULL,NULL,NULL),(29334,'NCBI Gene Summary',NULL,7565,NULL,'This gene encodes a membrane protein that mediates cell adhesion between trophoblastic cells and the epithelial cells of the endometrium. The encoded protein participates in cell signalling during embryo implantation, and may also be involved in cancer formation. This gene is located near several other closely related genes on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(29335,'NCBI Gene PubMed Count',NULL,7565,NULL,NULL,NULL,35,NULL,NULL,NULL),(29336,'NCBI Gene Summary',NULL,7566,NULL,'The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(29337,'NCBI Gene PubMed Count',NULL,7566,NULL,NULL,NULL,118,NULL,NULL,NULL),(29338,'NCBI Gene Summary',NULL,7567,NULL,'This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(29339,'NCBI Gene PubMed Count',NULL,7567,NULL,NULL,NULL,66,NULL,NULL,NULL),(29340,'NCBI Gene Summary',NULL,7568,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29341,'NCBI Gene PubMed Count',NULL,7568,NULL,NULL,NULL,659,NULL,NULL,NULL),(29342,'NCBI Gene Summary',NULL,7569,NULL,'This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation. The protein is a high molecular mass serine exopeptidase; the amino acid sequence surrounding the serine residue at the active site is similar to the peptidases of the subtilisin class rather than the trypsin class. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29343,'NCBI Gene PubMed Count',NULL,7569,NULL,NULL,NULL,40,NULL,NULL,NULL),(29344,'NCBI Gene PubMed Count',NULL,7570,NULL,NULL,NULL,13,NULL,NULL,NULL),(29345,'NCBI Gene Summary',NULL,7571,NULL,'This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29346,'NCBI Gene PubMed Count',NULL,7571,NULL,NULL,NULL,19,NULL,NULL,NULL),(29347,'NCBI Gene Summary',NULL,7572,NULL,'This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(29348,'NCBI Gene PubMed Count',NULL,7572,NULL,NULL,NULL,20,NULL,NULL,NULL),(29349,'NCBI Gene PubMed Count',NULL,7573,NULL,NULL,NULL,9,NULL,NULL,NULL),(29350,'NCBI Gene Summary',NULL,7574,NULL,'The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes an ubiquitously expressed, cytosolic form of TrxR, which functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing, primarily at the 5\' end, results in transcript variants encoding same or different isoforms, including a glutaredoxin-containing isoform that is predominantly expressed in testis. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(29351,'NCBI Gene PubMed Count',NULL,7574,NULL,NULL,NULL,122,NULL,NULL,NULL),(29352,'NCBI Gene PubMed Count',NULL,7575,NULL,NULL,NULL,9,NULL,NULL,NULL),(29353,'NCBI Gene Summary',NULL,7576,NULL,'This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]',NULL,NULL,NULL,NULL,NULL),(29354,'NCBI Gene PubMed Count',NULL,7576,NULL,NULL,NULL,203,NULL,NULL,NULL),(29355,'NCBI Gene Summary',NULL,7577,NULL,'This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(29356,'NCBI Gene PubMed Count',NULL,7577,NULL,NULL,NULL,17,NULL,NULL,NULL),(29357,'NCBI Gene Summary',NULL,7578,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29358,'NCBI Gene PubMed Count',NULL,7578,NULL,NULL,NULL,17,NULL,NULL,NULL),(29359,'NCBI Gene Summary',NULL,7579,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29360,'NCBI Gene PubMed Count',NULL,7579,NULL,NULL,NULL,19,NULL,NULL,NULL),(29361,'NCBI Gene PubMed Count',NULL,7580,NULL,NULL,NULL,13,NULL,NULL,NULL),(29362,'NCBI Gene PubMed Count',NULL,7581,NULL,NULL,NULL,8,NULL,NULL,NULL),(29363,'NCBI Gene Summary',NULL,7582,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29364,'NCBI Gene PubMed Count',NULL,7582,NULL,NULL,NULL,17,NULL,NULL,NULL),(29365,'NCBI Gene PubMed Count',NULL,7583,NULL,NULL,NULL,22,NULL,NULL,NULL),(29366,'NCBI Gene Summary',NULL,7584,NULL,'Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding, and the other variants encode the same protein. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(29367,'NCBI Gene PubMed Count',NULL,7584,NULL,NULL,NULL,139,NULL,NULL,NULL),(29368,'NCBI Gene Summary',NULL,7585,NULL,'Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding, and the other variants encode the same protein. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(29369,'NCBI Gene PubMed Count',NULL,7585,NULL,NULL,NULL,139,NULL,NULL,NULL),(29370,'NCBI Gene PubMed Count',NULL,7586,NULL,NULL,NULL,1,NULL,NULL,NULL),(29371,'NCBI Gene PubMed Count',NULL,7587,NULL,NULL,NULL,10,NULL,NULL,NULL),(29372,'NCBI Gene PubMed Count',NULL,7588,NULL,NULL,NULL,0,NULL,NULL,NULL),(29373,'NCBI Gene PubMed Count',NULL,7589,NULL,NULL,NULL,4,NULL,NULL,NULL),(29374,'NCBI Gene Summary',NULL,7590,NULL,'The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(29375,'NCBI Gene PubMed Count',NULL,7590,NULL,NULL,NULL,17,NULL,NULL,NULL),(29376,'NCBI Gene Summary',NULL,7591,NULL,'This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(29377,'NCBI Gene PubMed Count',NULL,7591,NULL,NULL,NULL,10,NULL,NULL,NULL),(29378,'NCBI Gene PubMed Count',NULL,7592,NULL,NULL,NULL,9,NULL,NULL,NULL),(29379,'NCBI Gene PubMed Count',NULL,7593,NULL,NULL,NULL,4,NULL,NULL,NULL),(29380,'NCBI Gene PubMed Count',NULL,7594,NULL,NULL,NULL,10,NULL,NULL,NULL),(29381,'NCBI Gene PubMed Count',NULL,7595,NULL,NULL,NULL,18,NULL,NULL,NULL),(29382,'NCBI Gene PubMed Count',NULL,7596,NULL,NULL,NULL,10,NULL,NULL,NULL),(29383,'NCBI Gene Summary',NULL,7597,NULL,'This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(29384,'NCBI Gene PubMed Count',NULL,7597,NULL,NULL,NULL,20,NULL,NULL,NULL),(29385,'NCBI Gene Summary',NULL,7598,NULL,'This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(29386,'NCBI Gene PubMed Count',NULL,7598,NULL,NULL,NULL,4,NULL,NULL,NULL),(29387,'NCBI Gene PubMed Count',NULL,7599,NULL,NULL,NULL,16,NULL,NULL,NULL),(29388,'NCBI Gene Summary',NULL,7600,NULL,'This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(29389,'NCBI Gene PubMed Count',NULL,7600,NULL,NULL,NULL,23,NULL,NULL,NULL),(29390,'NCBI Gene PubMed Count',NULL,7601,NULL,NULL,NULL,9,NULL,NULL,NULL),(29391,'NCBI Gene PubMed Count',NULL,7602,NULL,NULL,NULL,5,NULL,NULL,NULL),(29392,'NCBI Gene Summary',NULL,7603,NULL,'This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(29393,'NCBI Gene PubMed Count',NULL,7603,NULL,NULL,NULL,14,NULL,NULL,NULL),(29394,'NCBI Gene PubMed Count',NULL,7604,NULL,NULL,NULL,10,NULL,NULL,NULL),(29395,'NCBI Gene Summary',NULL,7605,NULL,'The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(29396,'NCBI Gene PubMed Count',NULL,7605,NULL,NULL,NULL,120,NULL,NULL,NULL),(29397,'NCBI Gene Summary',NULL,7606,NULL,'This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(29398,'NCBI Gene PubMed Count',NULL,7606,NULL,NULL,NULL,26,NULL,NULL,NULL),(29399,'NCBI Gene Summary',NULL,7607,NULL,'This gene encodes a member of the tumor necrosis factor receptor superfamily. The major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(29400,'NCBI Gene PubMed Count',NULL,7607,NULL,NULL,NULL,83,NULL,NULL,NULL),(29401,'NCBI Gene Summary',NULL,7608,NULL,'The protein encoded by this gene belongs to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. PTPs in this class contain a protein tyrosine phosphatase catalytic domain and a characteristic C-terminal prenylation motif. This PTP has been shown to primarily associate with plasmic and endosomal membrane through its C-terminal prenylation. This PTP was found to interact with the beta-subunit of Rab geranylgeranyltransferase II (beta GGT II), and thus may function as a regulator of GGT II activity. Overexpression of this gene in mammalian cells conferred a transformed phenotype, which suggested its role in tumorigenesis. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 11, 12 and 17. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(29402,'NCBI Gene PubMed Count',NULL,7608,NULL,NULL,NULL,35,NULL,NULL,NULL),(29403,'NCBI Gene Summary',NULL,7609,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29404,'NCBI Gene PubMed Count',NULL,7609,NULL,NULL,NULL,64,NULL,NULL,NULL),(29405,'NCBI Gene Summary',NULL,7610,NULL,'This gene belongs to the transient receptor family. It encodes one of the seven mammalian TRPC (transient receptor potential channel) proteins. The encoded protein is a multi-pass membrane protein and is thought to form a receptor-activated non-selective calcium permeant cation channel. The protein is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also interacts with multiple proteins including calmodulin, CABP1, enkurin, Na(+)-H+ exchange regulatory factor (NHERF ), interferon-induced GTP-binding protein (MX1), ring finger protein 24 (RNF24), and SEC14 domain and spectrin repeat-containing protein 1 (SESTD1). [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(29406,'NCBI Gene PubMed Count',NULL,7610,NULL,NULL,NULL,61,NULL,NULL,NULL),(29407,'NCBI Gene Summary',NULL,7611,NULL,'The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(29408,'NCBI Gene PubMed Count',NULL,7611,NULL,NULL,NULL,175,NULL,NULL,NULL),(29409,'NCBI Gene Summary',NULL,7612,NULL,'Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5\' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29410,'NCBI Gene PubMed Count',NULL,7612,NULL,NULL,NULL,340,NULL,NULL,NULL),(29411,'NCBI Gene Summary',NULL,7613,NULL,'The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(29412,'NCBI Gene PubMed Count',NULL,7613,NULL,NULL,NULL,69,NULL,NULL,NULL),(29413,'NCBI Gene PubMed Count',NULL,7614,NULL,NULL,NULL,13,NULL,NULL,NULL),(29414,'NCBI Gene PubMed Count',NULL,7615,NULL,NULL,NULL,16,NULL,NULL,NULL),(29415,'NCBI Gene Summary',NULL,7616,NULL,'The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(29416,'NCBI Gene PubMed Count',NULL,7616,NULL,NULL,NULL,155,NULL,NULL,NULL),(29417,'NCBI Gene Summary',NULL,7617,NULL,'This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29418,'NCBI Gene PubMed Count',NULL,7617,NULL,NULL,NULL,83,NULL,NULL,NULL),(29419,'NCBI Gene Summary',NULL,7618,NULL,'Although this locus appears to encode a protein similar to trypsinogen, the locus is thought to be a transcribed pseudogene. ESTs support its transcription, but expression of its predicted protein has not been observed. Its predicted protein sequence differs significantly from the known functional trypsinogens, including a different amino acid at the conserved residue 122 which is important for autolysis. This pseudogene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29420,'NCBI Gene PubMed Count',NULL,7618,NULL,NULL,NULL,9,NULL,NULL,NULL),(29421,'NCBI Gene Summary',NULL,7619,NULL,'The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes a mitochondrial form important for scavenging reactive oxygen species in mitochondria. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms, including a few localized in the cytosol and some lacking the C-terminal Sec residue, have been found for this gene. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(29422,'NCBI Gene PubMed Count',NULL,7619,NULL,NULL,NULL,57,NULL,NULL,NULL),(29423,'NCBI Gene Summary',NULL,7620,NULL,'The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes the third TrxR, which unlike the other two isozymes, contains an additional N-terminal glutaredoxin (Grx) domain, and shows highest expression in testis. The Grx domain allows this isozyme to participate in both Trx and glutathione systems. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. Experimental evidence suggests the use of a non-AUG (CUG) codon as a translation initiation codon (PMID:20018845). [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(29424,'NCBI Gene PubMed Count',NULL,7620,NULL,NULL,NULL,10,NULL,NULL,NULL),(29425,'NCBI Gene Summary',NULL,7621,NULL,'Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3\' UTR and contain tandem repeat sequences at the 5\' flank and 3\' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, beta II and beta III. Beta tryptases appear to be the main isoenzymes expressed in mast cells, whereas in basophils, alpha-tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29426,'NCBI Gene PubMed Count',NULL,7621,NULL,NULL,NULL,23,NULL,NULL,NULL),(29427,'NCBI Gene Summary',NULL,7622,NULL,'The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(29428,'NCBI Gene PubMed Count',NULL,7622,NULL,NULL,NULL,18,NULL,NULL,NULL),(29429,'NCBI Gene Summary',NULL,7623,NULL,'The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(29430,'NCBI Gene PubMed Count',NULL,7623,NULL,NULL,NULL,72,NULL,NULL,NULL),(29431,'NCBI Gene Summary',NULL,7624,NULL,'The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(29432,'NCBI Gene PubMed Count',NULL,7624,NULL,NULL,NULL,26,NULL,NULL,NULL),(29433,'NCBI Gene Summary',NULL,7625,NULL,'This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(29434,'NCBI Gene PubMed Count',NULL,7625,NULL,NULL,NULL,20,NULL,NULL,NULL),(29435,'NCBI Gene Summary',NULL,7626,NULL,'This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(29436,'NCBI Gene PubMed Count',NULL,7626,NULL,NULL,NULL,253,NULL,NULL,NULL),(29437,'NCBI Gene Summary',NULL,7627,NULL,'The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(29438,'NCBI Gene PubMed Count',NULL,7627,NULL,NULL,NULL,53,NULL,NULL,NULL),(29439,'NCBI Gene Summary',NULL,7628,NULL,'This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(29440,'NCBI Gene PubMed Count',NULL,7628,NULL,NULL,NULL,19,NULL,NULL,NULL),(29441,'NCBI Gene PubMed Count',NULL,7629,NULL,NULL,NULL,19,NULL,NULL,NULL),(29442,'NCBI Gene Summary',NULL,7630,NULL,'This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29443,'NCBI Gene PubMed Count',NULL,7630,NULL,NULL,NULL,15,NULL,NULL,NULL),(29444,'NCBI Gene Summary',NULL,7631,NULL,'This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(29445,'NCBI Gene PubMed Count',NULL,7631,NULL,NULL,NULL,124,NULL,NULL,NULL),(29446,'NCBI Gene PubMed Count',NULL,7632,NULL,NULL,NULL,10,NULL,NULL,NULL),(29447,'NCBI Gene PubMed Count',NULL,7633,NULL,NULL,NULL,8,NULL,NULL,NULL),(29448,'NCBI Gene PubMed Count',NULL,7634,NULL,NULL,NULL,8,NULL,NULL,NULL),(29449,'NCBI Gene PubMed Count',NULL,7635,NULL,NULL,NULL,2,NULL,NULL,NULL),(29450,'NCBI Gene Summary',NULL,7636,NULL,'The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(29451,'NCBI Gene PubMed Count',NULL,7636,NULL,NULL,NULL,13,NULL,NULL,NULL),(29452,'NCBI Gene Summary',NULL,7637,NULL,'Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(29453,'NCBI Gene PubMed Count',NULL,7637,NULL,NULL,NULL,7,NULL,NULL,NULL),(29454,'NCBI Gene Summary',NULL,7638,NULL,'This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(29455,'NCBI Gene PubMed Count',NULL,7638,NULL,NULL,NULL,11,NULL,NULL,NULL),(29456,'NCBI Gene PubMed Count',NULL,7639,NULL,NULL,NULL,3,NULL,NULL,NULL),(29457,'NCBI Gene PubMed Count',NULL,7641,NULL,NULL,NULL,6,NULL,NULL,NULL),(29458,'NCBI Gene Summary',NULL,7642,NULL,'The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(29459,'NCBI Gene PubMed Count',NULL,7642,NULL,NULL,NULL,156,NULL,NULL,NULL),(29460,'NCBI Gene Summary',NULL,7643,NULL,'The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. This protein is a cell-surface protein that can form heterodimers with other TLR family members to recognize conserved molecules derived from microorganisms known as pathogen-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-regulation of signaling pathways to modulate the host\'s inflammatory response. This gene is also thought to promote apoptosis in response to bacterial lipoproteins. This gene has been implicated in the pathogenesis of several autoimmune diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(29461,'NCBI Gene PubMed Count',NULL,7643,NULL,NULL,NULL,1334,NULL,NULL,NULL),(29462,'NCBI Gene Summary',NULL,7644,NULL,'This gene encodes a transmembrane protein which may be expressed specifically in the kidney. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(29463,'NCBI Gene PubMed Count',NULL,7644,NULL,NULL,NULL,2,NULL,NULL,NULL),(29464,'NCBI Gene PubMed Count',NULL,7645,NULL,NULL,NULL,8,NULL,NULL,NULL),(29465,'NCBI Gene PubMed Count',NULL,7646,NULL,NULL,NULL,2,NULL,NULL,NULL),(29466,'NCBI Gene PubMed Count',NULL,7647,NULL,NULL,NULL,13,NULL,NULL,NULL),(29467,'NCBI Gene PubMed Count',NULL,7648,NULL,NULL,NULL,30,NULL,NULL,NULL),(29468,'NCBI Gene PubMed Count',NULL,7649,NULL,NULL,NULL,10,NULL,NULL,NULL),(29469,'NCBI Gene Summary',NULL,7650,NULL,'This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(29470,'NCBI Gene PubMed Count',NULL,7650,NULL,NULL,NULL,167,NULL,NULL,NULL),(29471,'NCBI Gene PubMed Count',NULL,7651,NULL,NULL,NULL,9,NULL,NULL,NULL),(29472,'NCBI Gene Summary',NULL,7652,NULL,'This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(29473,'NCBI Gene PubMed Count',NULL,7652,NULL,NULL,NULL,6,NULL,NULL,NULL),(29474,'NCBI Gene Summary',NULL,7653,NULL,'Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29475,'NCBI Gene PubMed Count',NULL,7653,NULL,NULL,NULL,299,NULL,NULL,NULL),(29476,'NCBI Gene Summary',NULL,7654,NULL,'This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in several transcript variants encoding different proteins. [provided by RefSeq, Jun 2018]',NULL,NULL,NULL,NULL,NULL),(29477,'NCBI Gene PubMed Count',NULL,7654,NULL,NULL,NULL,91,NULL,NULL,NULL),(29478,'NCBI Gene Summary',NULL,7655,NULL,'TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(29479,'NCBI Gene PubMed Count',NULL,7655,NULL,NULL,NULL,19,NULL,NULL,NULL),(29480,'NCBI Gene PubMed Count',NULL,7656,NULL,NULL,NULL,7,NULL,NULL,NULL),(29481,'NCBI Gene Summary',NULL,7657,NULL,'This gene encodes a member of the tumor protein D52-like family of proteins. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. The encoded protein may play a role in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(29482,'NCBI Gene PubMed Count',NULL,7657,NULL,NULL,NULL,7,NULL,NULL,NULL),(29483,'NCBI Gene Summary',NULL,7658,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(29484,'NCBI Gene PubMed Count',NULL,7658,NULL,NULL,NULL,231,NULL,NULL,NULL),(29485,'NCBI Gene Summary',NULL,7659,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed preferentially in the tissues enriched in lymphocytes, and it may play a role in regulating lymphocyte homeostasis. This receptor has been shown to stimulate NF-kappa B activity and regulate cell apoptosis. The signal transduction of this receptor is mediated by various death domain containing adaptor proteins. Knockout studies in mice suggested the role of this gene in the removal of self-reactive T cells in the thymus. Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported, most of which are potentially secreted molecules. The alternative splicing of this gene in B and T cells encounters a programmed change upon T-cell activation, which predominantly produces full-length, membrane bound isoforms, and is thought to be involved in controlling lymphocyte proliferation induced by T-cell activation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29486,'NCBI Gene PubMed Count',NULL,7659,NULL,NULL,NULL,61,NULL,NULL,NULL),(29487,'NCBI Gene PubMed Count',NULL,7660,NULL,NULL,NULL,39,NULL,NULL,NULL),(29488,'NCBI Gene Summary',NULL,7661,NULL,'The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29489,'NCBI Gene PubMed Count',NULL,7661,NULL,NULL,NULL,16,NULL,NULL,NULL),(29490,'NCBI Gene Summary',NULL,7662,NULL,'This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(29491,'NCBI Gene PubMed Count',NULL,7662,NULL,NULL,NULL,87,NULL,NULL,NULL),(29492,'NCBI Gene Summary',NULL,7663,NULL,'This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29493,'NCBI Gene PubMed Count',NULL,7663,NULL,NULL,NULL,65,NULL,NULL,NULL),(29494,'NCBI Gene PubMed Count',NULL,7664,NULL,NULL,NULL,33,NULL,NULL,NULL),(29495,'NCBI Gene Summary',NULL,7665,NULL,'This gene encodes a member of the aromatic amino acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others.[provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(29496,'NCBI Gene PubMed Count',NULL,7665,NULL,NULL,NULL,220,NULL,NULL,NULL),(29497,'NCBI Gene Summary',NULL,7666,NULL,'This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(29498,'NCBI Gene PubMed Count',NULL,7666,NULL,NULL,NULL,37,NULL,NULL,NULL),(29499,'NCBI Gene Summary',NULL,7667,NULL,'This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(29500,'NCBI Gene PubMed Count',NULL,7667,NULL,NULL,NULL,262,NULL,NULL,NULL),(29501,'NCBI Gene Summary',NULL,7668,NULL,'This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(29502,'NCBI Gene PubMed Count',NULL,7668,NULL,NULL,NULL,39,NULL,NULL,NULL),(29503,'NCBI Gene PubMed Count',NULL,7669,NULL,NULL,NULL,4,NULL,NULL,NULL),(29504,'NCBI Gene Summary',NULL,7670,NULL,'Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(29505,'NCBI Gene PubMed Count',NULL,7670,NULL,NULL,NULL,12,NULL,NULL,NULL),(29506,'NCBI Gene Summary',NULL,7671,NULL,'This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is expressed in the brain and pancreas and is resistant to common trypsin inhibitors. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene is localized to the locus of T cell receptor beta variable orphans on chromosome 9. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(29507,'NCBI Gene PubMed Count',NULL,7671,NULL,NULL,NULL,41,NULL,NULL,NULL),(29508,'NCBI Gene Summary',NULL,7672,NULL,'The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29509,'NCBI Gene PubMed Count',NULL,7672,NULL,NULL,NULL,159,NULL,NULL,NULL),(29510,'NCBI Gene Summary',NULL,7673,NULL,'The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(29511,'NCBI Gene PubMed Count',NULL,7673,NULL,NULL,NULL,27,NULL,NULL,NULL),(29512,'NCBI Gene PubMed Count',NULL,7674,NULL,NULL,NULL,1,NULL,NULL,NULL),(29513,'NCBI Gene PubMed Count',NULL,7675,NULL,NULL,NULL,7,NULL,NULL,NULL),(29514,'NCBI Gene PubMed Count',NULL,7676,NULL,NULL,NULL,3,NULL,NULL,NULL),(29515,'NCBI Gene Summary',NULL,7677,NULL,'The innate immune system recognizes microbial pathogens through Toll-like receptors (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-interleukin 1 receptor (TIR) domain, which is responsible for signal transduction. The protein encoded by this gene is a TIR adaptor protein involved in the TLR4 signaling pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29516,'NCBI Gene PubMed Count',NULL,7677,NULL,NULL,NULL,117,NULL,NULL,NULL),(29517,'NCBI Gene Summary',NULL,7678,NULL,'This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(29518,'NCBI Gene PubMed Count',NULL,7678,NULL,NULL,NULL,50,NULL,NULL,NULL),(29519,'NCBI Gene Summary',NULL,7679,NULL,'This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 chaperone. This protein is associated with double-strand break repair of DNA damage caused by radiation. Pseudogenes of this gene are present on chromosomes 10 and 17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(29520,'NCBI Gene PubMed Count',NULL,7679,NULL,NULL,NULL,23,NULL,NULL,NULL),(29521,'NCBI Gene Summary',NULL,7680,NULL,'Constitutive activation of the Ras pathway triggers an irreversible proliferation arrest reminiscent of replicative senescence. Transcription of this gene is upregulated in response to activation of the Ras pathway, but not under other conditions that induce senescence. The encoded protein is similar to a rat cell surface receptor proposed to function in a neuronal survival pathway. An allelic polymorphism in this gene results in both functional and non-functional (frameshifted) alleles; the reference genome represents the functional allele. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(29522,'NCBI Gene PubMed Count',NULL,7680,NULL,NULL,NULL,11,NULL,NULL,NULL),(29523,'NCBI Gene Summary',NULL,7681,NULL,'This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29524,'NCBI Gene PubMed Count',NULL,7681,NULL,NULL,NULL,22,NULL,NULL,NULL),(29525,'NCBI Gene PubMed Count',NULL,7682,NULL,NULL,NULL,4,NULL,NULL,NULL),(29526,'NCBI Gene Summary',NULL,7683,NULL,'This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(29527,'NCBI Gene PubMed Count',NULL,7683,NULL,NULL,NULL,115,NULL,NULL,NULL),(29528,'NCBI Gene Summary',NULL,7684,NULL,'This gene encodes a member of the transducer of erbB-2 /B-cell translocation gene protein family. Members of this family are anti-proliferative factors that have the potential to regulate cell growth. The encoded protein may function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(29529,'NCBI Gene PubMed Count',NULL,7684,NULL,NULL,NULL,50,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (29530,'NCBI Gene Summary',NULL,7685,NULL,'This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(29531,'NCBI Gene PubMed Count',NULL,7685,NULL,NULL,NULL,19,NULL,NULL,NULL),(29532,'NCBI Gene PubMed Count',NULL,7686,NULL,NULL,NULL,26,NULL,NULL,NULL),(29533,'NCBI Gene PubMed Count',NULL,7687,NULL,NULL,NULL,7,NULL,NULL,NULL),(29534,'NCBI Gene Summary',NULL,7688,NULL,'This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(29535,'NCBI Gene PubMed Count',NULL,7688,NULL,NULL,NULL,276,NULL,NULL,NULL),(29536,'NCBI Gene Summary',NULL,7689,NULL,'This gene encodes a member of the triggering receptor expressed on myeloid cells-like (TREM) family. The encoded protein is a type 1 single Ig domain orphan receptor localized to the alpha-granule membranes of platelets. The encoded protein is involved in platelet aggregation, inflammation, and cellular activation and has been linked to Gray platelet syndrome. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(29537,'NCBI Gene PubMed Count',NULL,7689,NULL,NULL,NULL,20,NULL,NULL,NULL),(29538,'NCBI Gene PubMed Count',NULL,7690,NULL,NULL,NULL,8,NULL,NULL,NULL),(29539,'NCBI Gene PubMed Count',NULL,7691,NULL,NULL,NULL,10,NULL,NULL,NULL),(29540,'NCBI Gene PubMed Count',NULL,7692,NULL,NULL,NULL,18,NULL,NULL,NULL),(29541,'NCBI Gene PubMed Count',NULL,7693,NULL,NULL,NULL,108,NULL,NULL,NULL),(29542,'NCBI Gene PubMed Count',NULL,7694,NULL,NULL,NULL,19,NULL,NULL,NULL),(29543,'NCBI Gene Summary',NULL,7695,NULL,'This gene encodes a member of the protein-tyrosine phosphatase family. Protein tyrosine phosphatases are cell signaling molecules that play regulatory roles in a variety of cellular processes. Studies of this class of protein tyrosine phosphatase in mice demonstrates that they are prenylated in vivo, suggesting their association with cell plasma membrane. The encoded protein may enhance cell proliferation, and overexpression of this gene has been implicated in tumor metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(29544,'NCBI Gene PubMed Count',NULL,7695,NULL,NULL,NULL,148,NULL,NULL,NULL),(29545,'NCBI Gene Summary',NULL,7696,NULL,'This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(29546,'NCBI Gene PubMed Count',NULL,7696,NULL,NULL,NULL,112,NULL,NULL,NULL),(29547,'NCBI Gene Summary',NULL,7697,NULL,'The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3\' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(29548,'NCBI Gene PubMed Count',NULL,7697,NULL,NULL,NULL,28,NULL,NULL,NULL),(29549,'NCBI Gene PubMed Count',NULL,7698,NULL,NULL,NULL,15,NULL,NULL,NULL),(29550,'NCBI Gene Summary',NULL,7699,NULL,'Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3\' UTR and contain tandem repeat sequences at the 5\' flank and 3\' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29551,'NCBI Gene PubMed Count',NULL,7699,NULL,NULL,NULL,89,NULL,NULL,NULL),(29552,'NCBI Gene PubMed Count',NULL,7700,NULL,NULL,NULL,6,NULL,NULL,NULL),(29553,'NCBI Gene Summary',NULL,7701,NULL,'This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(29554,'NCBI Gene PubMed Count',NULL,7701,NULL,NULL,NULL,18,NULL,NULL,NULL),(29555,'NCBI Gene Summary',NULL,7702,NULL,'This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(29556,'NCBI Gene PubMed Count',NULL,7702,NULL,NULL,NULL,15,NULL,NULL,NULL),(29557,'NCBI Gene Summary',NULL,7703,NULL,'This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transcribed by either RNA polymerase II or III and recruits other regulatory factors to activate snRNA gene transcription. The encoded protein may play a role in stabilizing this complex. A pseudogene of this gene has been identified on chromosome 6. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(29558,'NCBI Gene PubMed Count',NULL,7703,NULL,NULL,NULL,13,NULL,NULL,NULL),(29559,'NCBI Gene Summary',NULL,7704,NULL,'This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29560,'NCBI Gene PubMed Count',NULL,7704,NULL,NULL,NULL,285,NULL,NULL,NULL),(29561,'NCBI Gene Summary',NULL,7705,NULL,'Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29562,'NCBI Gene PubMed Count',NULL,7705,NULL,NULL,NULL,31,NULL,NULL,NULL),(29563,'NCBI Gene Summary',NULL,7706,NULL,'The protein encoded by this gene is a sorting nexin that is found in the cytoplasm, where it interacts with membrane-bound phosphatidylinositol 3-phosphate. The encoded protein may play a role in intracellular trafficking. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(29564,'NCBI Gene PubMed Count',NULL,7706,NULL,NULL,NULL,4,NULL,NULL,NULL),(29565,'NCBI Gene Summary',NULL,7707,NULL,'Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29566,'NCBI Gene PubMed Count',NULL,7707,NULL,NULL,NULL,192,NULL,NULL,NULL),(29567,'NCBI Gene PubMed Count',NULL,7708,NULL,NULL,NULL,3,NULL,NULL,NULL),(29568,'NCBI Gene Summary',NULL,7709,NULL,'The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(29569,'NCBI Gene PubMed Count',NULL,7709,NULL,NULL,NULL,790,NULL,NULL,NULL),(29570,'NCBI Gene PubMed Count',NULL,7710,NULL,NULL,NULL,9,NULL,NULL,NULL),(29571,'NCBI Gene PubMed Count',NULL,7711,NULL,NULL,NULL,16,NULL,NULL,NULL),(29572,'NCBI Gene Summary',NULL,7712,NULL,'This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(29573,'NCBI Gene PubMed Count',NULL,7712,NULL,NULL,NULL,609,NULL,NULL,NULL),(29574,'NCBI Gene Summary',NULL,7713,NULL,'The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin\'s and some non-Hodgkin\'s lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(29575,'NCBI Gene PubMed Count',NULL,7713,NULL,NULL,NULL,38,NULL,NULL,NULL),(29576,'NCBI Gene Summary',NULL,7714,NULL,'The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(29577,'NCBI Gene PubMed Count',NULL,7714,NULL,NULL,NULL,70,NULL,NULL,NULL),(29578,'NCBI Gene PubMed Count',NULL,7715,NULL,NULL,NULL,11,NULL,NULL,NULL),(29579,'NCBI Gene PubMed Count',NULL,7716,NULL,NULL,NULL,4,NULL,NULL,NULL),(29580,'NCBI Gene PubMed Count',NULL,7717,NULL,NULL,NULL,5,NULL,NULL,NULL),(29581,'NCBI Gene PubMed Count',NULL,7718,NULL,NULL,NULL,17,NULL,NULL,NULL),(29582,'NCBI Gene PubMed Count',NULL,7719,NULL,NULL,NULL,8,NULL,NULL,NULL),(29583,'NCBI Gene Summary',NULL,7720,NULL,'This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(29584,'NCBI Gene PubMed Count',NULL,7720,NULL,NULL,NULL,53,NULL,NULL,NULL),(29585,'NCBI Gene Summary',NULL,7721,NULL,'Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(29586,'NCBI Gene PubMed Count',NULL,7721,NULL,NULL,NULL,99,NULL,NULL,NULL),(29587,'NCBI Gene Summary',NULL,7722,NULL,'This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29588,'NCBI Gene PubMed Count',NULL,7722,NULL,NULL,NULL,18,NULL,NULL,NULL),(29589,'NCBI Gene PubMed Count',NULL,7723,NULL,NULL,NULL,13,NULL,NULL,NULL),(29590,'NCBI Gene Summary',NULL,7724,NULL,'The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(29591,'NCBI Gene PubMed Count',NULL,7724,NULL,NULL,NULL,19,NULL,NULL,NULL),(29592,'NCBI Gene PubMed Count',NULL,7725,NULL,NULL,NULL,15,NULL,NULL,NULL),(29593,'NCBI Gene PubMed Count',NULL,7726,NULL,NULL,NULL,14,NULL,NULL,NULL),(29594,'NCBI Gene Summary',NULL,7727,NULL,'The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5\'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29595,'NCBI Gene PubMed Count',NULL,7727,NULL,NULL,NULL,21,NULL,NULL,NULL),(29596,'NCBI Gene PubMed Count',NULL,7728,NULL,NULL,NULL,8,NULL,NULL,NULL),(29597,'NCBI Gene PubMed Count',NULL,7729,NULL,NULL,NULL,12,NULL,NULL,NULL),(29598,'NCBI Gene PubMed Count',NULL,7730,NULL,NULL,NULL,8,NULL,NULL,NULL),(29599,'NCBI Gene PubMed Count',NULL,7731,NULL,NULL,NULL,7,NULL,NULL,NULL),(29600,'NCBI Gene Summary',NULL,7732,NULL,'Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family, which is located in a gene cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a protein that localizes to the nucleus and is expressed in highly metastatic cell lines, making the protein a potential diagnostic and prognostic marker. The protein belongs to a family of cancer/testis antigens and represents a potential target for cancer immunotherapy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29601,'NCBI Gene PubMed Count',NULL,7732,NULL,NULL,NULL,19,NULL,NULL,NULL),(29602,'NCBI Gene PubMed Count',NULL,7733,NULL,NULL,NULL,1,NULL,NULL,NULL),(29603,'NCBI Gene PubMed Count',NULL,7734,NULL,NULL,NULL,6,NULL,NULL,NULL),(29604,'NCBI Gene Summary',NULL,7735,NULL,'This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(29605,'NCBI Gene PubMed Count',NULL,7735,NULL,NULL,NULL,19,NULL,NULL,NULL),(29606,'NCBI Gene Summary',NULL,7736,NULL,'Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29607,'NCBI Gene PubMed Count',NULL,7736,NULL,NULL,NULL,4,NULL,NULL,NULL),(29608,'NCBI Gene Summary',NULL,7737,NULL,'Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29609,'NCBI Gene PubMed Count',NULL,7737,NULL,NULL,NULL,5,NULL,NULL,NULL),(29610,'NCBI Gene PubMed Count',NULL,7738,NULL,NULL,NULL,18,NULL,NULL,NULL),(29611,'NCBI Gene Summary',NULL,7739,NULL,'The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(29612,'NCBI Gene PubMed Count',NULL,7739,NULL,NULL,NULL,12,NULL,NULL,NULL),(29613,'NCBI Gene PubMed Count',NULL,7740,NULL,NULL,NULL,2,NULL,NULL,NULL),(29614,'NCBI Gene Summary',NULL,7741,NULL,'The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29615,'NCBI Gene PubMed Count',NULL,7741,NULL,NULL,NULL,74,NULL,NULL,NULL),(29616,'NCBI Gene PubMed Count',NULL,7742,NULL,NULL,NULL,95,NULL,NULL,NULL),(29617,'NCBI Gene PubMed Count',NULL,7743,NULL,NULL,NULL,33,NULL,NULL,NULL),(29618,'NCBI Gene PubMed Count',NULL,7744,NULL,NULL,NULL,2,NULL,NULL,NULL),(29619,'NCBI Gene PubMed Count',NULL,7745,NULL,NULL,NULL,6,NULL,NULL,NULL),(29620,'NCBI Gene PubMed Count',NULL,7746,NULL,NULL,NULL,9,NULL,NULL,NULL),(29621,'NCBI Gene PubMed Count',NULL,7747,NULL,NULL,NULL,12,NULL,NULL,NULL),(29622,'NCBI Gene Summary',NULL,7748,NULL,'The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29623,'NCBI Gene PubMed Count',NULL,7748,NULL,NULL,NULL,41,NULL,NULL,NULL),(29624,'NCBI Gene PubMed Count',NULL,7749,NULL,NULL,NULL,5,NULL,NULL,NULL),(29625,'NCBI Gene Summary',NULL,7750,NULL,'This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasng blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(29626,'NCBI Gene PubMed Count',NULL,7750,NULL,NULL,NULL,590,NULL,NULL,NULL),(29627,'NCBI Gene Summary',NULL,7751,NULL,'SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(29628,'NCBI Gene PubMed Count',NULL,7751,NULL,NULL,NULL,26,NULL,NULL,NULL),(29629,'NCBI Gene Summary',NULL,7752,NULL,'Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(29630,'NCBI Gene PubMed Count',NULL,7752,NULL,NULL,NULL,23,NULL,NULL,NULL),(29631,'NCBI Gene Summary',NULL,7753,NULL,'Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(29632,'NCBI Gene PubMed Count',NULL,7753,NULL,NULL,NULL,12,NULL,NULL,NULL),(29633,'NCBI Gene Summary',NULL,7754,NULL,'This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29634,'NCBI Gene PubMed Count',NULL,7754,NULL,NULL,NULL,7,NULL,NULL,NULL),(29635,'NCBI Gene Summary',NULL,7755,NULL,'SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(29636,'NCBI Gene PubMed Count',NULL,7755,NULL,NULL,NULL,21,NULL,NULL,NULL),(29637,'NCBI Gene Summary',NULL,7756,NULL,'The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5\' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(29638,'NCBI Gene PubMed Count',NULL,7756,NULL,NULL,NULL,45,NULL,NULL,NULL),(29639,'NCBI Gene Summary',NULL,7757,NULL,'This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29640,'NCBI Gene PubMed Count',NULL,7757,NULL,NULL,NULL,41,NULL,NULL,NULL),(29641,'NCBI Gene Summary',NULL,7758,NULL,'This gene encodes a protein containing multiple transmembrane helices. It is a selective surface protein marker of brite/beige adipocytes, which may coexist with classical brown adipocytes in brown adipose tissue. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(29642,'NCBI Gene PubMed Count',NULL,7758,NULL,NULL,NULL,15,NULL,NULL,NULL),(29643,'NCBI Gene PubMed Count',NULL,7759,NULL,NULL,NULL,13,NULL,NULL,NULL),(29644,'NCBI Gene PubMed Count',NULL,7760,NULL,NULL,NULL,17,NULL,NULL,NULL),(29645,'NCBI Gene Summary',NULL,7761,NULL,'This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29646,'NCBI Gene PubMed Count',NULL,7761,NULL,NULL,NULL,16,NULL,NULL,NULL),(29647,'NCBI Gene Summary',NULL,7762,NULL,'This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(29648,'NCBI Gene PubMed Count',NULL,7762,NULL,NULL,NULL,36,NULL,NULL,NULL),(29649,'NCBI Gene PubMed Count',NULL,7763,NULL,NULL,NULL,2,NULL,NULL,NULL),(29650,'NCBI Gene PubMed Count',NULL,7764,NULL,NULL,NULL,7,NULL,NULL,NULL),(29651,'NCBI Gene Summary',NULL,7765,NULL,'This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29652,'NCBI Gene PubMed Count',NULL,7765,NULL,NULL,NULL,24,NULL,NULL,NULL),(29653,'NCBI Gene Summary',NULL,7766,NULL,'This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29654,'NCBI Gene PubMed Count',NULL,7766,NULL,NULL,NULL,577,NULL,NULL,NULL),(29655,'NCBI Gene Summary',NULL,7767,NULL,'The protein encoded by this gene is a subunit of single-stranded DNA binding complexes that are important for maintaining genome stability. These complexes are involved in G2/M checkpoint control and homologous recombination repair. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(29656,'NCBI Gene PubMed Count',NULL,7767,NULL,NULL,NULL,12,NULL,NULL,NULL),(29657,'NCBI Gene Summary',NULL,7768,NULL,'This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29658,'NCBI Gene PubMed Count',NULL,7768,NULL,NULL,NULL,15,NULL,NULL,NULL),(29659,'NCBI Gene Summary',NULL,7769,NULL,'The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29660,'NCBI Gene PubMed Count',NULL,7769,NULL,NULL,NULL,49,NULL,NULL,NULL),(29661,'NCBI Gene Summary',NULL,7770,NULL,'This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(29662,'NCBI Gene PubMed Count',NULL,7770,NULL,NULL,NULL,65,NULL,NULL,NULL),(29663,'NCBI Gene Summary',NULL,7771,NULL,'This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29664,'NCBI Gene PubMed Count',NULL,7771,NULL,NULL,NULL,519,NULL,NULL,NULL),(29665,'NCBI Gene Summary',NULL,7772,NULL,'Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]',NULL,NULL,NULL,NULL,NULL),(29666,'NCBI Gene PubMed Count',NULL,7772,NULL,NULL,NULL,17,NULL,NULL,NULL),(29667,'NCBI Gene Summary',NULL,7773,NULL,'This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29668,'NCBI Gene PubMed Count',NULL,7773,NULL,NULL,NULL,24,NULL,NULL,NULL),(29669,'NCBI Gene Summary',NULL,7774,NULL,'This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29670,'NCBI Gene PubMed Count',NULL,7774,NULL,NULL,NULL,68,NULL,NULL,NULL),(29671,'NCBI Gene Summary',NULL,7775,NULL,'This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29672,'NCBI Gene PubMed Count',NULL,7775,NULL,NULL,NULL,72,NULL,NULL,NULL),(29673,'NCBI Gene PubMed Count',NULL,7776,NULL,NULL,NULL,11,NULL,NULL,NULL),(29674,'NCBI Gene Summary',NULL,7777,NULL,'This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, and cancer. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29675,'NCBI Gene PubMed Count',NULL,7777,NULL,NULL,NULL,5406,NULL,NULL,NULL),(29676,'NCBI Gene PubMed Count',NULL,7778,NULL,NULL,NULL,3,NULL,NULL,NULL),(29677,'NCBI Gene Summary',NULL,7779,NULL,'The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29678,'NCBI Gene PubMed Count',NULL,7779,NULL,NULL,NULL,44,NULL,NULL,NULL),(29679,'NCBI Gene Summary',NULL,7780,NULL,'SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(29680,'NCBI Gene PubMed Count',NULL,7780,NULL,NULL,NULL,17,NULL,NULL,NULL),(29681,'NCBI Gene Summary',NULL,7781,NULL,'This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn\'s disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(29682,'NCBI Gene PubMed Count',NULL,7781,NULL,NULL,NULL,18,NULL,NULL,NULL),(29683,'NCBI Gene PubMed Count',NULL,7782,NULL,NULL,NULL,8,NULL,NULL,NULL),(29684,'NCBI Gene Summary',NULL,7783,NULL,'Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(29685,'NCBI Gene PubMed Count',NULL,7783,NULL,NULL,NULL,33,NULL,NULL,NULL),(29686,'NCBI Gene Summary',NULL,7784,NULL,'This gene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha regulatory subunit (RIIa) while the C-terminus has an IQ calmodulin-binding motif. The central portion of the protein has carbohydrate binding motifs and likely functions in cell-cell adhesion. The protein was initially characterized by its involvement in the binding of sperm to the zona pellucida of the oocyte. Recent studies indicate that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. A retrotransposed pseudogene is present on chromosome 10q22.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(29687,'NCBI Gene PubMed Count',NULL,7784,NULL,NULL,NULL,35,NULL,NULL,NULL),(29688,'NCBI Gene Summary',NULL,7785,NULL,'This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. A related pseudogene has been identified on chromosome 13. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(29689,'NCBI Gene PubMed Count',NULL,7785,NULL,NULL,NULL,174,NULL,NULL,NULL),(29690,'NCBI Gene Summary',NULL,7786,NULL,'The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(29691,'NCBI Gene PubMed Count',NULL,7786,NULL,NULL,NULL,25,NULL,NULL,NULL),(29692,'NCBI Gene PubMed Count',NULL,7787,NULL,NULL,NULL,6,NULL,NULL,NULL),(29693,'NCBI Gene Summary',NULL,7788,NULL,'The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(29694,'NCBI Gene PubMed Count',NULL,7788,NULL,NULL,NULL,16,NULL,NULL,NULL),(29695,'NCBI Gene Summary',NULL,7789,NULL,'This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein contains the least conserved DNA-binding domain within the Sp subfamily of proteins, and its DNA sequence specificity differs from the other Sp proteins. It localizes primarily within subnuclear foci associated with the nuclear matrix, and can activate or in some cases repress expression from different promoters. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29696,'NCBI Gene PubMed Count',NULL,7789,NULL,NULL,NULL,29,NULL,NULL,NULL),(29697,'NCBI Gene PubMed Count',NULL,7790,NULL,NULL,NULL,8,NULL,NULL,NULL),(29698,'NCBI Gene PubMed Count',NULL,7791,NULL,NULL,NULL,7,NULL,NULL,NULL),(29699,'NCBI Gene Summary',NULL,7792,NULL,'The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29700,'NCBI Gene PubMed Count',NULL,7792,NULL,NULL,NULL,16,NULL,NULL,NULL),(29701,'NCBI Gene PubMed Count',NULL,7793,NULL,NULL,NULL,5,NULL,NULL,NULL),(29702,'NCBI Gene PubMed Count',NULL,7794,NULL,NULL,NULL,9,NULL,NULL,NULL),(29703,'NCBI Gene PubMed Count',NULL,7795,NULL,NULL,NULL,9,NULL,NULL,NULL),(29704,'NCBI Gene Summary',NULL,7796,NULL,'The protein encoded by this gene belongs to the tyrosine protein kinase family. Tyrosine protein kinases are important regulators of intracellular signal transduction pathways, mediating cellular proliferation, survival, and development. This gene is highly expressed in fetal tissues and at lower levels in few adult tissues, thus may function in signaling pathways utilized broadly during fetal development, and more selectively in adult tissues. It plays a negative regulatory role in the Ras-Raf1-MAPK pathway, and knockout mice have been shown to develop spontaneous tumors, suggesting a role as a tumor suppressor gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(29705,'NCBI Gene PubMed Count',NULL,7796,NULL,NULL,NULL,18,NULL,NULL,NULL),(29706,'NCBI Gene PubMed Count',NULL,7797,NULL,NULL,NULL,99,NULL,NULL,NULL),(29707,'NCBI Gene PubMed Count',NULL,7798,NULL,NULL,NULL,1,NULL,NULL,NULL),(29708,'NCBI Gene Summary',NULL,7799,NULL,'This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(29709,'NCBI Gene PubMed Count',NULL,7799,NULL,NULL,NULL,21,NULL,NULL,NULL),(29710,'NCBI Gene PubMed Count',NULL,7800,NULL,NULL,NULL,16,NULL,NULL,NULL),(29711,'NCBI Gene Summary',NULL,7801,NULL,'This gene encodes a serine/threonine protein kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. The encoded protein may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. Overexpression of this gene has been implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(29712,'NCBI Gene PubMed Count',NULL,7801,NULL,NULL,NULL,65,NULL,NULL,NULL),(29713,'NCBI Gene Summary',NULL,7802,NULL,'This gene encodes a central pair protein present in the axonemes of cells with a \"9 + 2\" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(29714,'NCBI Gene PubMed Count',NULL,7802,NULL,NULL,NULL,22,NULL,NULL,NULL),(29715,'NCBI Gene PubMed Count',NULL,7803,NULL,NULL,NULL,6,NULL,NULL,NULL),(29716,'NCBI Gene PubMed Count',NULL,7804,NULL,NULL,NULL,1,NULL,NULL,NULL),(29717,'NCBI Gene Summary',NULL,7805,NULL,'This gene encodes one of three members of the DXF34 gene family, located in a 100-kb region of chromosome Xp11.21. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(29718,'NCBI Gene PubMed Count',NULL,7805,NULL,NULL,NULL,10,NULL,NULL,NULL),(29719,'NCBI Gene Summary',NULL,7806,NULL,'This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(29720,'NCBI Gene PubMed Count',NULL,7806,NULL,NULL,NULL,17,NULL,NULL,NULL),(29721,'NCBI Gene Summary',NULL,7807,NULL,'This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29722,'NCBI Gene PubMed Count',NULL,7807,NULL,NULL,NULL,13,NULL,NULL,NULL),(29723,'NCBI Gene Summary',NULL,7808,NULL,'This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily of kinases that play a role in conserved signal transduction pathways. A mutation in this gene is associated with early infantile epileptic encephalopathy 30. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(29724,'NCBI Gene PubMed Count',NULL,7808,NULL,NULL,NULL,31,NULL,NULL,NULL),(29725,'NCBI Gene PubMed Count',NULL,7809,NULL,NULL,NULL,3,NULL,NULL,NULL),(29726,'NCBI Gene PubMed Count',NULL,7810,NULL,NULL,NULL,1,NULL,NULL,NULL),(29727,'NCBI Gene Summary',NULL,7811,NULL,'SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(29728,'NCBI Gene PubMed Count',NULL,7811,NULL,NULL,NULL,15,NULL,NULL,NULL),(29729,'NCBI Gene PubMed Count',NULL,7812,NULL,NULL,NULL,38,NULL,NULL,NULL),(29730,'NCBI Gene Summary',NULL,7813,NULL,'The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29731,'NCBI Gene PubMed Count',NULL,7813,NULL,NULL,NULL,107,NULL,NULL,NULL),(29732,'NCBI Gene Summary',NULL,7814,NULL,'SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(29733,'NCBI Gene PubMed Count',NULL,7814,NULL,NULL,NULL,10,NULL,NULL,NULL),(29734,'NCBI Gene PubMed Count',NULL,7815,NULL,NULL,NULL,8,NULL,NULL,NULL),(29735,'NCBI Gene PubMed Count',NULL,7816,NULL,NULL,NULL,3,NULL,NULL,NULL),(29736,'NCBI Gene PubMed Count',NULL,7817,NULL,NULL,NULL,3,NULL,NULL,NULL),(29737,'NCBI Gene PubMed Count',NULL,7819,NULL,NULL,NULL,3,NULL,NULL,NULL),(29738,'NCBI Gene PubMed Count',NULL,7820,NULL,NULL,NULL,8,NULL,NULL,NULL),(29739,'NCBI Gene Summary',NULL,7821,NULL,'The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer\'s disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(29740,'NCBI Gene PubMed Count',NULL,7821,NULL,NULL,NULL,7,NULL,NULL,NULL),(29741,'NCBI Gene PubMed Count',NULL,7822,NULL,NULL,NULL,2,NULL,NULL,NULL),(29742,'NCBI Gene PubMed Count',NULL,7823,NULL,NULL,NULL,6,NULL,NULL,NULL),(29743,'NCBI Gene PubMed Count',NULL,7824,NULL,NULL,NULL,9,NULL,NULL,NULL),(29744,'NCBI Gene Summary',NULL,7825,NULL,'The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(29745,'NCBI Gene PubMed Count',NULL,7825,NULL,NULL,NULL,5,NULL,NULL,NULL),(29746,'NCBI Gene Summary',NULL,7826,NULL,'This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class III of the sirtuin family. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(29747,'NCBI Gene PubMed Count',NULL,7826,NULL,NULL,NULL,57,NULL,NULL,NULL),(29748,'NCBI Gene Summary',NULL,7827,NULL,'This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(29749,'NCBI Gene PubMed Count',NULL,7827,NULL,NULL,NULL,206,NULL,NULL,NULL),(29750,'NCBI Gene PubMed Count',NULL,7828,NULL,NULL,NULL,13,NULL,NULL,NULL),(29751,'NCBI Gene PubMed Count',NULL,7829,NULL,NULL,NULL,52,NULL,NULL,NULL),(29752,'NCBI Gene PubMed Count',NULL,7830,NULL,NULL,NULL,5,NULL,NULL,NULL),(29753,'NCBI Gene PubMed Count',NULL,7831,NULL,NULL,NULL,4,NULL,NULL,NULL),(29754,'NCBI Gene PubMed Count',NULL,7832,NULL,NULL,NULL,8,NULL,NULL,NULL),(29755,'NCBI Gene PubMed Count',NULL,7833,NULL,NULL,NULL,8,NULL,NULL,NULL),(29756,'NCBI Gene Summary',NULL,7834,NULL,'This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29757,'NCBI Gene PubMed Count',NULL,7834,NULL,NULL,NULL,130,NULL,NULL,NULL),(29758,'NCBI Gene Summary',NULL,7835,NULL,'The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(29759,'NCBI Gene PubMed Count',NULL,7835,NULL,NULL,NULL,312,NULL,NULL,NULL),(29760,'NCBI Gene PubMed Count',NULL,7836,NULL,NULL,NULL,9,NULL,NULL,NULL),(29761,'NCBI Gene PubMed Count',NULL,7837,NULL,NULL,NULL,3,NULL,NULL,NULL),(29762,'NCBI Gene Summary',NULL,7838,NULL,'This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(29763,'NCBI Gene PubMed Count',NULL,7838,NULL,NULL,NULL,92,NULL,NULL,NULL),(29764,'NCBI Gene PubMed Count',NULL,7839,NULL,NULL,NULL,6,NULL,NULL,NULL),(29765,'NCBI Gene Summary',NULL,7840,NULL,'This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(29766,'NCBI Gene PubMed Count',NULL,7840,NULL,NULL,NULL,11,NULL,NULL,NULL),(29767,'NCBI Gene Summary',NULL,7841,NULL,'The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(29768,'NCBI Gene PubMed Count',NULL,7841,NULL,NULL,NULL,38,NULL,NULL,NULL),(29769,'NCBI Gene PubMed Count',NULL,7842,NULL,NULL,NULL,5,NULL,NULL,NULL),(29770,'NCBI Gene Summary',NULL,7843,NULL,'Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(29771,'NCBI Gene PubMed Count',NULL,7843,NULL,NULL,NULL,36,NULL,NULL,NULL),(29772,'NCBI Gene Summary',NULL,7844,NULL,'This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(29773,'NCBI Gene PubMed Count',NULL,7844,NULL,NULL,NULL,347,NULL,NULL,NULL),(29774,'NCBI Gene Summary',NULL,7845,NULL,'The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29775,'NCBI Gene PubMed Count',NULL,7845,NULL,NULL,NULL,39,NULL,NULL,NULL),(29776,'NCBI Gene Summary',NULL,7846,NULL,'This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(29777,'NCBI Gene PubMed Count',NULL,7846,NULL,NULL,NULL,49,NULL,NULL,NULL),(29778,'NCBI Gene Summary',NULL,7847,NULL,'The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(29779,'NCBI Gene PubMed Count',NULL,7847,NULL,NULL,NULL,44,NULL,NULL,NULL),(29780,'NCBI Gene Summary',NULL,7848,NULL,'The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(29781,'NCBI Gene PubMed Count',NULL,7848,NULL,NULL,NULL,13,NULL,NULL,NULL),(29782,'NCBI Gene PubMed Count',NULL,7849,NULL,NULL,NULL,8,NULL,NULL,NULL),(29783,'NCBI Gene Summary',NULL,7850,NULL,'This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(29784,'NCBI Gene PubMed Count',NULL,7850,NULL,NULL,NULL,13,NULL,NULL,NULL),(29785,'NCBI Gene Summary',NULL,7851,NULL,'Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29786,'NCBI Gene PubMed Count',NULL,7851,NULL,NULL,NULL,16,NULL,NULL,NULL),(29787,'NCBI Gene Summary',NULL,7852,NULL,'This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(29788,'NCBI Gene PubMed Count',NULL,7852,NULL,NULL,NULL,55,NULL,NULL,NULL),(29789,'NCBI Gene Summary',NULL,7853,NULL,'Wnt signaling plays important roles in carcinogenesis and embryonic development. The protein encoded by this gene is a serine/threonine kinase that functions as an activator of the Wnt signaling pathway. Mutations in this gene are associated with an autosomal recessive form of cognitive disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(29790,'NCBI Gene PubMed Count',NULL,7853,NULL,NULL,NULL,36,NULL,NULL,NULL),(29791,'NCBI Gene PubMed Count',NULL,7854,NULL,NULL,NULL,217,NULL,NULL,NULL),(29792,'NCBI Gene Summary',NULL,7855,NULL,'The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors. This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway important in inflammatory, antiapoptotic, and immune processes. Phosphorylation of this protein alters its catalytic activity and promotes its translocation to the plasma membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(29793,'NCBI Gene PubMed Count',NULL,7855,NULL,NULL,NULL,237,NULL,NULL,NULL),(29794,'NCBI Gene Summary',NULL,7856,NULL,'This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(29795,'NCBI Gene PubMed Count',NULL,7856,NULL,NULL,NULL,36,NULL,NULL,NULL),(29796,'NCBI Gene Summary',NULL,7857,NULL,'This gene is expressed primarily in testis and may play a role in testicular development and spermatogenesis. The encoded protein may be upregulated in response to ultraviolet-C radiation. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(29797,'NCBI Gene PubMed Count',NULL,7857,NULL,NULL,NULL,7,NULL,NULL,NULL),(29798,'NCBI Gene PubMed Count',NULL,7858,NULL,NULL,NULL,1,NULL,NULL,NULL),(29799,'NCBI Gene Summary',NULL,7859,NULL,'This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(29800,'NCBI Gene PubMed Count',NULL,7859,NULL,NULL,NULL,7,NULL,NULL,NULL),(29801,'NCBI Gene Summary',NULL,7860,NULL,'Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular family member contains an additional 18 nucleotides in its coding region compared to the other family members in the same gene cluster. This family member is also subject to gene copy number variation. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(29802,'NCBI Gene PubMed Count',NULL,7860,NULL,NULL,NULL,18,NULL,NULL,NULL),(29803,'NCBI Gene PubMed Count',NULL,7861,NULL,NULL,NULL,6,NULL,NULL,NULL),(29804,'NCBI Gene Summary',NULL,7862,NULL,'ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(29805,'NCBI Gene PubMed Count',NULL,7862,NULL,NULL,NULL,17,NULL,NULL,NULL),(29806,'NCBI Gene PubMed Count',NULL,7863,NULL,NULL,NULL,10,NULL,NULL,NULL),(29807,'NCBI Gene PubMed Count',NULL,7864,NULL,NULL,NULL,17,NULL,NULL,NULL),(29808,'NCBI Gene PubMed Count',NULL,7865,NULL,NULL,NULL,5,NULL,NULL,NULL),(29809,'NCBI Gene PubMed Count',NULL,7866,NULL,NULL,NULL,5,NULL,NULL,NULL),(29810,'NCBI Gene Summary',NULL,7867,NULL,'This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. Related pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(29811,'NCBI Gene PubMed Count',NULL,7867,NULL,NULL,NULL,13,NULL,NULL,NULL),(29812,'NCBI Gene PubMed Count',NULL,7868,NULL,NULL,NULL,2,NULL,NULL,NULL),(29813,'NCBI Gene PubMed Count',NULL,7869,NULL,NULL,NULL,7,NULL,NULL,NULL),(29814,'NCBI Gene Summary',NULL,7870,NULL,'The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(29815,'NCBI Gene PubMed Count',NULL,7870,NULL,NULL,NULL,22,NULL,NULL,NULL),(29816,'NCBI Gene PubMed Count',NULL,7871,NULL,NULL,NULL,10,NULL,NULL,NULL),(29817,'NCBI Gene Summary',NULL,7872,NULL,'This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin (Siglec) family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. The encoded protein is a member of the CD33-related subset of Siglecs and inhibits the activation of several cell types including monocytes, macrophages and neutrophils. Binding of group B Streptococcus (GBS) to the encoded protein plays a role in GBS immune evasion. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(29818,'NCBI Gene PubMed Count',NULL,7872,NULL,NULL,NULL,32,NULL,NULL,NULL),(29819,'NCBI Gene Summary',NULL,7873,NULL,'ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(29820,'NCBI Gene PubMed Count',NULL,7873,NULL,NULL,NULL,9,NULL,NULL,NULL),(29821,'NCBI Gene Summary',NULL,7874,NULL,'The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29822,'NCBI Gene PubMed Count',NULL,7874,NULL,NULL,NULL,38,NULL,NULL,NULL),(29823,'NCBI Gene Summary',NULL,7875,NULL,'This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29824,'NCBI Gene PubMed Count',NULL,7875,NULL,NULL,NULL,34,NULL,NULL,NULL),(29825,'NCBI Gene PubMed Count',NULL,7876,NULL,NULL,NULL,2,NULL,NULL,NULL),(29826,'NCBI Gene PubMed Count',NULL,7877,NULL,NULL,NULL,10,NULL,NULL,NULL),(29827,'NCBI Gene Summary',NULL,7878,NULL,'This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29828,'NCBI Gene PubMed Count',NULL,7878,NULL,NULL,NULL,203,NULL,NULL,NULL),(29829,'NCBI Gene Summary',NULL,7879,NULL,'This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3\' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29830,'NCBI Gene PubMed Count',NULL,7879,NULL,NULL,NULL,43,NULL,NULL,NULL),(29831,'NCBI Gene PubMed Count',NULL,7880,NULL,NULL,NULL,4,NULL,NULL,NULL),(29832,'NCBI Gene PubMed Count',NULL,7881,NULL,NULL,NULL,1,NULL,NULL,NULL),(29833,'NCBI Gene Summary',NULL,7883,NULL,'This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(29834,'NCBI Gene PubMed Count',NULL,7883,NULL,NULL,NULL,46,NULL,NULL,NULL),(29835,'NCBI Gene Summary',NULL,7884,NULL,'This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(29836,'NCBI Gene PubMed Count',NULL,7884,NULL,NULL,NULL,8,NULL,NULL,NULL),(29837,'NCBI Gene Summary',NULL,7885,NULL,'This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(29838,'NCBI Gene PubMed Count',NULL,7885,NULL,NULL,NULL,161,NULL,NULL,NULL),(29839,'NCBI Gene Summary',NULL,7886,NULL,'This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic cognitive disability, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(29840,'NCBI Gene PubMed Count',NULL,7886,NULL,NULL,NULL,33,NULL,NULL,NULL),(29841,'NCBI Gene Summary',NULL,7887,NULL,'This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(29842,'NCBI Gene PubMed Count',NULL,7887,NULL,NULL,NULL,14,NULL,NULL,NULL),(29843,'NCBI Gene PubMed Count',NULL,7888,NULL,NULL,NULL,24,NULL,NULL,NULL),(29844,'NCBI Gene Summary',NULL,7889,NULL,'The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene \'mothers against decapentaplegic\' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(29845,'NCBI Gene PubMed Count',NULL,7889,NULL,NULL,NULL,446,NULL,NULL,NULL),(29846,'NCBI Gene Summary',NULL,7890,NULL,'This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(29847,'NCBI Gene PubMed Count',NULL,7890,NULL,NULL,NULL,31,NULL,NULL,NULL),(29848,'NCBI Gene PubMed Count',NULL,7891,NULL,NULL,NULL,9,NULL,NULL,NULL),(29849,'NCBI Gene PubMed Count',NULL,7892,NULL,NULL,NULL,4,NULL,NULL,NULL),(29850,'NCBI Gene PubMed Count',NULL,7893,NULL,NULL,NULL,2,NULL,NULL,NULL),(29851,'NCBI Gene PubMed Count',NULL,7894,NULL,NULL,NULL,1,NULL,NULL,NULL),(29852,'NCBI Gene PubMed Count',NULL,7895,NULL,NULL,NULL,6,NULL,NULL,NULL),(29853,'NCBI Gene Summary',NULL,7896,NULL,'The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29854,'NCBI Gene PubMed Count',NULL,7896,NULL,NULL,NULL,17,NULL,NULL,NULL),(29855,'NCBI Gene PubMed Count',NULL,7897,NULL,NULL,NULL,3,NULL,NULL,NULL),(29856,'NCBI Gene PubMed Count',NULL,7898,NULL,NULL,NULL,27,NULL,NULL,NULL),(29857,'NCBI Gene Summary',NULL,7899,NULL,'This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(29858,'NCBI Gene PubMed Count',NULL,7899,NULL,NULL,NULL,37,NULL,NULL,NULL),(29859,'NCBI Gene Summary',NULL,7900,NULL,'Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29860,'NCBI Gene PubMed Count',NULL,7900,NULL,NULL,NULL,55,NULL,NULL,NULL),(29861,'NCBI Gene PubMed Count',NULL,7901,NULL,NULL,NULL,3,NULL,NULL,NULL),(29862,'NCBI Gene Summary',NULL,7902,NULL,'The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(29863,'NCBI Gene PubMed Count',NULL,7902,NULL,NULL,NULL,23,NULL,NULL,NULL),(29864,'NCBI Gene Summary',NULL,7903,NULL,'The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(29865,'NCBI Gene PubMed Count',NULL,7903,NULL,NULL,NULL,23,NULL,NULL,NULL),(29866,'NCBI Gene PubMed Count',NULL,7904,NULL,NULL,NULL,102,NULL,NULL,NULL),(29867,'NCBI Gene PubMed Count',NULL,7905,NULL,NULL,NULL,2,NULL,NULL,NULL),(29868,'NCBI Gene Summary',NULL,7906,NULL,'The polyamines putrescine, spermine, and spermidine are ubiquitous polycationic mediators of cell growth and differentiation. Spermidine synthase is one of four enzymes in the polyamine-biosynthetic pathway and carries out the final step of spermidine biosynthesis. This enzyme catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the cofactor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29869,'NCBI Gene PubMed Count',NULL,7906,NULL,NULL,NULL,14,NULL,NULL,NULL),(29870,'NCBI Gene Summary',NULL,7907,NULL,'This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29871,'NCBI Gene PubMed Count',NULL,7907,NULL,NULL,NULL,88,NULL,NULL,NULL),(29872,'NCBI Gene Summary',NULL,7908,NULL,'This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29873,'NCBI Gene PubMed Count',NULL,7908,NULL,NULL,NULL,201,NULL,NULL,NULL),(29874,'NCBI Gene PubMed Count',NULL,7909,NULL,NULL,NULL,9,NULL,NULL,NULL),(29875,'NCBI Gene Summary',NULL,7910,NULL,'This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(29876,'NCBI Gene PubMed Count',NULL,7910,NULL,NULL,NULL,17,NULL,NULL,NULL),(29877,'NCBI Gene PubMed Count',NULL,7911,NULL,NULL,NULL,13,NULL,NULL,NULL),(29878,'NCBI Gene Summary',NULL,7912,NULL,'This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(29879,'NCBI Gene PubMed Count',NULL,7912,NULL,NULL,NULL,15,NULL,NULL,NULL),(29880,'NCBI Gene Summary',NULL,7913,NULL,'The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(29881,'NCBI Gene PubMed Count',NULL,7913,NULL,NULL,NULL,7,NULL,NULL,NULL),(29882,'NCBI Gene Summary',NULL,7914,NULL,'This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(29883,'NCBI Gene PubMed Count',NULL,7914,NULL,NULL,NULL,75,NULL,NULL,NULL),(29884,'NCBI Gene PubMed Count',NULL,7915,NULL,NULL,NULL,5,NULL,NULL,NULL),(29885,'NCBI Gene PubMed Count',NULL,7916,NULL,NULL,NULL,6,NULL,NULL,NULL),(29886,'NCBI Gene PubMed Count',NULL,7918,NULL,NULL,NULL,8,NULL,NULL,NULL),(29887,'NCBI Gene Summary',NULL,7919,NULL,'This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson\'s disease. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(29888,'NCBI Gene PubMed Count',NULL,7919,NULL,NULL,NULL,26,NULL,NULL,NULL),(29889,'NCBI Gene PubMed Count',NULL,7920,NULL,NULL,NULL,14,NULL,NULL,NULL),(29890,'NCBI Gene Summary',NULL,7921,NULL,'The protein encoded by this gene belongs to SID1 family of transmembrane dsRNA-gated channels. Family members transport dsRNA into cells and are required for systemic RNA interference. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(29891,'NCBI Gene PubMed Count',NULL,7921,NULL,NULL,NULL,11,NULL,NULL,NULL),(29892,'NCBI Gene PubMed Count',NULL,7922,NULL,NULL,NULL,21,NULL,NULL,NULL),(29893,'NCBI Gene Summary',NULL,7923,NULL,'This gene encodes a member of the sirtuin family of NAD-dependent enzymes that are implicated in cellular stress resistance, genomic stability, aging and energy homeostasis. The encoded protein is localized to the nucleus, exhibits ADP-ribosyl transferase and histone deacetylase activities, and plays a role in DNA repair, maintenance of telomeric chromatin, inflammation, lipid and glucose metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(29894,'NCBI Gene PubMed Count',NULL,7923,NULL,NULL,NULL,156,NULL,NULL,NULL),(29895,'NCBI Gene Summary',NULL,7924,NULL,'This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(29896,'NCBI Gene PubMed Count',NULL,7924,NULL,NULL,NULL,46,NULL,NULL,NULL),(29897,'NCBI Gene Summary',NULL,7925,NULL,'Steroid receptor RNA activator (SRA, or SRA1; MIM 603819) is a complex RNA molecule containing multiple stable stem-loop structures that functions in coactivation of nuclear receptors. SLIRP interacts with stem-loop structure-7 of SRA (STR7) and modulates nuclear receptor transactivation (Hatchell et al., 2006 [PubMed 16762838]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(29898,'NCBI Gene PubMed Count',NULL,7925,NULL,NULL,NULL,24,NULL,NULL,NULL),(29899,'NCBI Gene Summary',NULL,7926,NULL,'This gene encodes a member of the signaling lymphocytic activation molecule family. The encoded protein is a cell surface molecule that consists of two extracellular immunoglobulin domains, a transmembrane domain and a short cytoplasmic tail that lacks the signal transduction motifs found in other family members. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(29900,'NCBI Gene PubMed Count',NULL,7926,NULL,NULL,NULL,8,NULL,NULL,NULL),(29901,'NCBI Gene PubMed Count',NULL,7927,NULL,NULL,NULL,4,NULL,NULL,NULL),(29902,'NCBI Gene PubMed Count',NULL,7928,NULL,NULL,NULL,9,NULL,NULL,NULL),(29903,'NCBI Gene Summary',NULL,7929,NULL,'The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(29904,'NCBI Gene PubMed Count',NULL,7929,NULL,NULL,NULL,43,NULL,NULL,NULL),(29905,'NCBI Gene Summary',NULL,7930,NULL,'This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(29906,'NCBI Gene PubMed Count',NULL,7930,NULL,NULL,NULL,22,NULL,NULL,NULL),(29907,'NCBI Gene PubMed Count',NULL,7931,NULL,NULL,NULL,8,NULL,NULL,NULL),(29908,'NCBI Gene PubMed Count',NULL,7932,NULL,NULL,NULL,9,NULL,NULL,NULL),(29909,'NCBI Gene PubMed Count',NULL,7933,NULL,NULL,NULL,9,NULL,NULL,NULL),(29910,'NCBI Gene PubMed Count',NULL,7934,NULL,NULL,NULL,58,NULL,NULL,NULL),(29911,'NCBI Gene PubMed Count',NULL,7935,NULL,NULL,NULL,15,NULL,NULL,NULL),(29912,'NCBI Gene PubMed Count',NULL,7936,NULL,NULL,NULL,9,NULL,NULL,NULL),(29913,'NCBI Gene Summary',NULL,7937,NULL,'The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS), also known as STAT-induced STAT inhibitor (SSI), protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29914,'NCBI Gene PubMed Count',NULL,7937,NULL,NULL,NULL,21,NULL,NULL,NULL),(29915,'NCBI Gene Summary',NULL,7938,NULL,'The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(29916,'NCBI Gene PubMed Count',NULL,7938,NULL,NULL,NULL,6,NULL,NULL,NULL),(29917,'NCBI Gene Summary',NULL,7939,NULL,'This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer\'s disease. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(29918,'NCBI Gene PubMed Count',NULL,7939,NULL,NULL,NULL,165,NULL,NULL,NULL),(29919,'NCBI Gene Summary',NULL,7940,NULL,'The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(29920,'NCBI Gene PubMed Count',NULL,7940,NULL,NULL,NULL,137,NULL,NULL,NULL),(29921,'NCBI Gene Summary',NULL,7941,NULL,'This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29922,'NCBI Gene PubMed Count',NULL,7941,NULL,NULL,NULL,89,NULL,NULL,NULL),(29923,'NCBI Gene Summary',NULL,7942,NULL,'Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(29924,'NCBI Gene PubMed Count',NULL,7942,NULL,NULL,NULL,20,NULL,NULL,NULL),(29925,'NCBI Gene Summary',NULL,7943,NULL,'Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2A, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]',NULL,NULL,NULL,NULL,NULL),(29926,'NCBI Gene PubMed Count',NULL,7943,NULL,NULL,NULL,10,NULL,NULL,NULL),(29927,'NCBI Gene Summary',NULL,7944,NULL,'This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29928,'NCBI Gene PubMed Count',NULL,7944,NULL,NULL,NULL,49,NULL,NULL,NULL),(29929,'NCBI Gene Summary',NULL,7945,NULL,'This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29930,'NCBI Gene PubMed Count',NULL,7945,NULL,NULL,NULL,16,NULL,NULL,NULL),(29931,'NCBI Gene Summary',NULL,7946,NULL,'This gene belongs to the tumor necrosis factor receptor superfamily. The encoded protein is postulated to play a regulatory role in suppressing FasL- and LIGHT-mediated cell death. It acts as a decoy receptor that competes with death receptors for ligand binding. Over-expression of this gene has been noted in gastrointestinal tract tumors. Read-through transcription into this gene from the neighboring upstream gene, which encodes regulator of telomere elongation helicase 1 (RTEL1), generates a non-coding transcript. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(29932,'NCBI Gene PubMed Count',NULL,7946,NULL,NULL,NULL,132,NULL,NULL,NULL),(29933,'NCBI Gene Summary',NULL,7947,NULL,'This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29934,'NCBI Gene PubMed Count',NULL,7947,NULL,NULL,NULL,46,NULL,NULL,NULL),(29935,'NCBI Gene Summary',NULL,7948,NULL,'This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29936,'NCBI Gene PubMed Count',NULL,7948,NULL,NULL,NULL,37,NULL,NULL,NULL),(29937,'NCBI Gene Summary',NULL,7949,NULL,'The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29938,'NCBI Gene PubMed Count',NULL,7949,NULL,NULL,NULL,356,NULL,NULL,NULL),(29939,'NCBI Gene PubMed Count',NULL,7950,NULL,NULL,NULL,3,NULL,NULL,NULL),(29940,'NCBI Gene PubMed Count',NULL,7951,NULL,NULL,NULL,21,NULL,NULL,NULL),(29941,'NCBI Gene PubMed Count',NULL,7952,NULL,NULL,NULL,118,NULL,NULL,NULL),(29942,'NCBI Gene Summary',NULL,7953,NULL,'The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(29943,'NCBI Gene PubMed Count',NULL,7953,NULL,NULL,NULL,11,NULL,NULL,NULL),(29944,'NCBI Gene Summary',NULL,7954,NULL,'This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29945,'NCBI Gene PubMed Count',NULL,7954,NULL,NULL,NULL,37,NULL,NULL,NULL),(29946,'NCBI Gene PubMed Count',NULL,7955,NULL,NULL,NULL,4,NULL,NULL,NULL),(29947,'NCBI Gene Summary',NULL,7956,NULL,'The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29948,'NCBI Gene PubMed Count',NULL,7956,NULL,NULL,NULL,58,NULL,NULL,NULL),(29949,'NCBI Gene PubMed Count',NULL,7957,NULL,NULL,NULL,3,NULL,NULL,NULL),(29950,'NCBI Gene Summary',NULL,7959,NULL,'This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(29951,'NCBI Gene PubMed Count',NULL,7959,NULL,NULL,NULL,27,NULL,NULL,NULL),(29952,'NCBI Gene PubMed Count',NULL,7960,NULL,NULL,NULL,8,NULL,NULL,NULL),(29953,'NCBI Gene Summary',NULL,7961,NULL,'This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(29954,'NCBI Gene PubMed Count',NULL,7961,NULL,NULL,NULL,27,NULL,NULL,NULL),(29955,'NCBI Gene PubMed Count',NULL,7962,NULL,NULL,NULL,16,NULL,NULL,NULL),(29956,'NCBI Gene PubMed Count',NULL,7963,NULL,NULL,NULL,9,NULL,NULL,NULL),(29957,'NCBI Gene Summary',NULL,7964,NULL,'This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5\' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(29958,'NCBI Gene PubMed Count',NULL,7964,NULL,NULL,NULL,9,NULL,NULL,NULL),(29959,'NCBI Gene Summary',NULL,7965,NULL,'The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(29960,'NCBI Gene PubMed Count',NULL,7965,NULL,NULL,NULL,98,NULL,NULL,NULL),(29961,'NCBI Gene Summary',NULL,7966,NULL,'This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(29962,'NCBI Gene PubMed Count',NULL,7966,NULL,NULL,NULL,72,NULL,NULL,NULL),(29963,'NCBI Gene Summary',NULL,7967,NULL,'Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 25K protein that is a component of the U12-type spliceosome. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(29964,'NCBI Gene PubMed Count',NULL,7967,NULL,NULL,NULL,9,NULL,NULL,NULL),(29965,'NCBI Gene Summary',NULL,7968,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. A similar protein in mouse may be involved in regulating the neurite outgrowth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(29966,'NCBI Gene PubMed Count',NULL,7968,NULL,NULL,NULL,15,NULL,NULL,NULL),(29967,'NCBI Gene Summary',NULL,7969,NULL,'This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(29968,'NCBI Gene PubMed Count',NULL,7969,NULL,NULL,NULL,300,NULL,NULL,NULL),(29969,'NCBI Gene PubMed Count',NULL,7970,NULL,NULL,NULL,5,NULL,NULL,NULL),(29970,'NCBI Gene Summary',NULL,7971,NULL,'This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(29971,'NCBI Gene PubMed Count',NULL,7971,NULL,NULL,NULL,42,NULL,NULL,NULL),(29972,'NCBI Gene PubMed Count',NULL,7972,NULL,NULL,NULL,3,NULL,NULL,NULL),(29973,'NCBI Gene PubMed Count',NULL,7973,NULL,NULL,NULL,25,NULL,NULL,NULL),(29974,'NCBI Gene Summary',NULL,7974,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region like some family members, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(29975,'NCBI Gene PubMed Count',NULL,7974,NULL,NULL,NULL,14,NULL,NULL,NULL),(29976,'NCBI Gene Summary',NULL,7975,NULL,'This gene encodes a member of the suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(29977,'NCBI Gene PubMed Count',NULL,7975,NULL,NULL,NULL,101,NULL,NULL,NULL),(29978,'NCBI Gene PubMed Count',NULL,7976,NULL,NULL,NULL,8,NULL,NULL,NULL),(29979,'NCBI Gene Summary',NULL,7977,NULL,'This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma. The protein encoded by this gene can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29980,'NCBI Gene PubMed Count',NULL,7977,NULL,NULL,NULL,409,NULL,NULL,NULL),(29981,'NCBI Gene Summary',NULL,7978,NULL,'Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29982,'NCBI Gene PubMed Count',NULL,7978,NULL,NULL,NULL,48,NULL,NULL,NULL),(29983,'NCBI Gene Summary',NULL,7979,NULL,'The protein encoded by this gene is involved in cytoskeletal reorganization, vesicle trafficking, endocytosis, and mitosis. The encoded protein is essential for the creation of the cleavage furrow during mitosis and for completion of mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(29984,'NCBI Gene PubMed Count',NULL,7979,NULL,NULL,NULL,15,NULL,NULL,NULL),(29985,'NCBI Gene PubMed Count',NULL,7980,NULL,NULL,NULL,4,NULL,NULL,NULL),(29986,'NCBI Gene Summary',NULL,7981,NULL,'The protein encoded by this gene contains a SH2 domain and a CIS homolog domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by GM-CSF and EPO in hematopoietic cells. A high expression level of this gene was found in factor-independent chronic myelogenous leukemia (CML) and erythroleukemia (HEL) cell lines. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29987,'NCBI Gene PubMed Count',NULL,7981,NULL,NULL,NULL,36,NULL,NULL,NULL),(29988,'NCBI Gene PubMed Count',NULL,7982,NULL,NULL,NULL,9,NULL,NULL,NULL),(29989,'NCBI Gene PubMed Count',NULL,7983,NULL,NULL,NULL,5,NULL,NULL,NULL),(29990,'NCBI Gene Summary',NULL,7984,NULL,'This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(29991,'NCBI Gene PubMed Count',NULL,7984,NULL,NULL,NULL,25,NULL,NULL,NULL),(29992,'NCBI Gene Summary',NULL,7985,NULL,'This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(29993,'NCBI Gene PubMed Count',NULL,7985,NULL,NULL,NULL,15,NULL,NULL,NULL),(29994,'NCBI Gene Summary',NULL,7986,NULL,'This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(29995,'NCBI Gene PubMed Count',NULL,7986,NULL,NULL,NULL,2,NULL,NULL,NULL),(29996,'NCBI Gene Summary',NULL,7987,NULL,'This gene encodes a member of the tumor necrosis factor superfamily. It encodes a hybrid protein composed of the cytoplasmic and transmembrane domains of family member 12 fused to the C-terminal domain of family member 13. The hybrid protein is membrane anchored and presents the receptor-binding domain of family member 13 at the cell surface. It stimulates cycling in T- and B-lymphoma cell lines. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(29997,'NCBI Gene PubMed Count',NULL,7987,NULL,NULL,NULL,19,NULL,NULL,NULL),(29998,'NCBI Gene Summary',NULL,7988,NULL,'The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(29999,'NCBI Gene PubMed Count',NULL,7988,NULL,NULL,NULL,178,NULL,NULL,NULL),(30000,'NCBI Gene Summary',NULL,7989,NULL,'The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30001,'NCBI Gene PubMed Count',NULL,7989,NULL,NULL,NULL,90,NULL,NULL,NULL),(30002,'NCBI Gene Summary',NULL,7990,NULL,'This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer\'s disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(30003,'NCBI Gene PubMed Count',NULL,7990,NULL,NULL,NULL,13,NULL,NULL,NULL),(30004,'NCBI Gene Summary',NULL,7991,NULL,'This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30005,'NCBI Gene PubMed Count',NULL,7991,NULL,NULL,NULL,173,NULL,NULL,NULL),(30006,'NCBI Gene Summary',NULL,7992,NULL,'The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(30007,'NCBI Gene PubMed Count',NULL,7992,NULL,NULL,NULL,914,NULL,NULL,NULL),(30008,'NCBI Gene Summary',NULL,7993,NULL,'The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4, myocardial infarction, non-Hodgkin\'s lymphoma, and psoriatic arthritis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(30009,'NCBI Gene PubMed Count',NULL,7993,NULL,NULL,NULL,557,NULL,NULL,NULL),(30010,'NCBI Gene Summary',NULL,7994,NULL,'This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(30011,'NCBI Gene PubMed Count',NULL,7994,NULL,NULL,NULL,65,NULL,NULL,NULL),(30012,'NCBI Gene PubMed Count',NULL,7995,NULL,NULL,NULL,2,NULL,NULL,NULL),(30013,'NCBI Gene Summary',NULL,7996,NULL,'This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(30014,'NCBI Gene PubMed Count',NULL,7996,NULL,NULL,NULL,37,NULL,NULL,NULL),(30015,'NCBI Gene PubMed Count',NULL,7997,NULL,NULL,NULL,3,NULL,NULL,NULL),(30016,'NCBI Gene Summary',NULL,7998,NULL,'This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(30017,'NCBI Gene PubMed Count',NULL,7998,NULL,NULL,NULL,27,NULL,NULL,NULL),(30018,'NCBI Gene PubMed Count',NULL,7999,NULL,NULL,NULL,18,NULL,NULL,NULL),(30019,'NCBI Gene Summary',NULL,8000,NULL,'This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(30020,'NCBI Gene PubMed Count',NULL,8000,NULL,NULL,NULL,26,NULL,NULL,NULL),(30021,'NCBI Gene Summary',NULL,8001,NULL,'This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30022,'NCBI Gene PubMed Count',NULL,8001,NULL,NULL,NULL,3,NULL,NULL,NULL),(30023,'NCBI Gene Summary',NULL,8002,NULL,'This gene encodes a cell cycle regulatory protein which plays an important role in cell cycle progression by binding and activating cyclin-dependent kinases. The encoded protein belongs to a family of cyclin-dependent kinase regulators that contain a speedy box domain which is required for cyclin-dependent kinase activation. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(30024,'NCBI Gene PubMed Count',NULL,8002,NULL,NULL,NULL,8,NULL,NULL,NULL),(30025,'NCBI Gene PubMed Count',NULL,8003,NULL,NULL,NULL,2,NULL,NULL,NULL),(30026,'NCBI Gene Summary',NULL,8004,NULL,'The protein encoded by this gene belongs to the ETS family of transcription factors. It is highly expressed in the prostate epithelial cells, and functions as an androgen-independent transactivator of prostate-specific antigen (PSA) promoter. Higher expression of this protein has also been reported in brain, breast, lung and ovarian tumors, compared to the corresponding normal tissues, and it shows better tumor-association than other cancer-associated molecules, making it a more suitable target for developing specific cancer therapies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(30027,'NCBI Gene PubMed Count',NULL,8004,NULL,NULL,NULL,58,NULL,NULL,NULL),(30028,'NCBI Gene Summary',NULL,8005,NULL,'This gene encodes a protein which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK signaling pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.[provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(30029,'NCBI Gene PubMed Count',NULL,8005,NULL,NULL,NULL,34,NULL,NULL,NULL),(30030,'NCBI Gene Summary',NULL,8006,NULL,'The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5\'-GAGGAA-3\') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(30031,'NCBI Gene PubMed Count',NULL,8006,NULL,NULL,NULL,32,NULL,NULL,NULL),(30032,'NCBI Gene Summary',NULL,8007,NULL,'Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30033,'NCBI Gene PubMed Count',NULL,8007,NULL,NULL,NULL,17,NULL,NULL,NULL),(30034,'NCBI Gene Summary',NULL,8008,NULL,'The protein encoded by this gene regulates the development of red pulp macrophages, which are necessary for iron homeostasis and the recycling of red blood cells. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(30035,'NCBI Gene PubMed Count',NULL,8008,NULL,NULL,NULL,7,NULL,NULL,NULL),(30036,'NCBI Gene PubMed Count',NULL,8009,NULL,NULL,NULL,3,NULL,NULL,NULL),(30037,'NCBI Gene PubMed Count',NULL,8010,NULL,NULL,NULL,1,NULL,NULL,NULL),(30038,'NCBI Gene Summary',NULL,8011,NULL,'The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(30039,'NCBI Gene PubMed Count',NULL,8011,NULL,NULL,NULL,70,NULL,NULL,NULL),(30040,'NCBI Gene Summary',NULL,8012,NULL,'The protein encoded by this gene is an SH2-containing 5\'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(30041,'NCBI Gene PubMed Count',NULL,8012,NULL,NULL,NULL,98,NULL,NULL,NULL),(30042,'NCBI Gene Summary',NULL,8013,NULL,'This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(30043,'NCBI Gene PubMed Count',NULL,8013,NULL,NULL,NULL,11,NULL,NULL,NULL),(30044,'NCBI Gene PubMed Count',NULL,8014,NULL,NULL,NULL,4,NULL,NULL,NULL),(30045,'NCBI Gene Summary',NULL,8015,NULL,'This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(30046,'NCBI Gene PubMed Count',NULL,8015,NULL,NULL,NULL,41,NULL,NULL,NULL),(30047,'NCBI Gene PubMed Count',NULL,8016,NULL,NULL,NULL,0,NULL,NULL,NULL),(30048,'NCBI Gene PubMed Count',NULL,8018,NULL,NULL,NULL,3,NULL,NULL,NULL),(30049,'NCBI Gene PubMed Count',NULL,8019,NULL,NULL,NULL,2,NULL,NULL,NULL),(30050,'NCBI Gene Summary',NULL,8020,NULL,'The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30051,'NCBI Gene PubMed Count',NULL,8020,NULL,NULL,NULL,4,NULL,NULL,NULL),(30052,'NCBI Gene Summary',NULL,8021,NULL,'The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30053,'NCBI Gene PubMed Count',NULL,8021,NULL,NULL,NULL,6,NULL,NULL,NULL),(30054,'NCBI Gene PubMed Count',NULL,8022,NULL,NULL,NULL,2,NULL,NULL,NULL),(30055,'NCBI Gene Summary',NULL,8023,NULL,'This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(30056,'NCBI Gene PubMed Count',NULL,8023,NULL,NULL,NULL,24,NULL,NULL,NULL),(30057,'NCBI Gene PubMed Count',NULL,8024,NULL,NULL,NULL,27,NULL,NULL,NULL),(30058,'NCBI Gene Summary',NULL,8025,NULL,'The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(30059,'NCBI Gene PubMed Count',NULL,8025,NULL,NULL,NULL,97,NULL,NULL,NULL),(30060,'NCBI Gene PubMed Count',NULL,8026,NULL,NULL,NULL,22,NULL,NULL,NULL),(30061,'NCBI Gene PubMed Count',NULL,8027,NULL,NULL,NULL,7,NULL,NULL,NULL),(30062,'NCBI Gene PubMed Count',NULL,8028,NULL,NULL,NULL,5,NULL,NULL,NULL),(30063,'NCBI Gene PubMed Count',NULL,8029,NULL,NULL,NULL,9,NULL,NULL,NULL),(30064,'NCBI Gene Summary',NULL,8030,NULL,'The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(30065,'NCBI Gene PubMed Count',NULL,8030,NULL,NULL,NULL,11,NULL,NULL,NULL),(30066,'NCBI Gene Summary',NULL,8031,NULL,'Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30067,'NCBI Gene PubMed Count',NULL,8031,NULL,NULL,NULL,21,NULL,NULL,NULL),(30068,'NCBI Gene Summary',NULL,8032,NULL,'This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(30069,'NCBI Gene PubMed Count',NULL,8032,NULL,NULL,NULL,16,NULL,NULL,NULL),(30070,'NCBI Gene Summary',NULL,8033,NULL,'This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(30071,'NCBI Gene PubMed Count',NULL,8033,NULL,NULL,NULL,9,NULL,NULL,NULL),(30072,'NCBI Gene Summary',NULL,8034,NULL,'The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30073,'NCBI Gene PubMed Count',NULL,8034,NULL,NULL,NULL,15,NULL,NULL,NULL),(30074,'NCBI Gene PubMed Count',NULL,8035,NULL,NULL,NULL,29,NULL,NULL,NULL),(30075,'NCBI Gene Summary',NULL,8036,NULL,'This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(30076,'NCBI Gene PubMed Count',NULL,8036,NULL,NULL,NULL,18,NULL,NULL,NULL),(30077,'NCBI Gene PubMed Count',NULL,8037,NULL,NULL,NULL,2,NULL,NULL,NULL),(30078,'NCBI Gene Summary',NULL,8038,NULL,'The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30079,'NCBI Gene PubMed Count',NULL,8038,NULL,NULL,NULL,57,NULL,NULL,NULL),(30080,'NCBI Gene Summary',NULL,8039,NULL,'The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30081,'NCBI Gene PubMed Count',NULL,8039,NULL,NULL,NULL,67,NULL,NULL,NULL),(30082,'NCBI Gene Summary',NULL,8040,NULL,'The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30083,'NCBI Gene PubMed Count',NULL,8040,NULL,NULL,NULL,36,NULL,NULL,NULL),(30084,'NCBI Gene Summary',NULL,8041,NULL,'This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30085,'NCBI Gene PubMed Count',NULL,8041,NULL,NULL,NULL,20,NULL,NULL,NULL),(30086,'NCBI Gene Summary',NULL,8042,NULL,'This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(30087,'NCBI Gene PubMed Count',NULL,8042,NULL,NULL,NULL,34,NULL,NULL,NULL),(30088,'NCBI Gene Summary',NULL,8043,NULL,'This gene encodes a vitamin K-dependent, gamma-carboxyglutamic acid (Gla)-containing, single-pass transmembrane protein. This protein contains a Gla domain at the N-terminus, preceded by a propeptide sequence required for post-translational gamma-carboxylation of specific glutamic acid residues by a vitamin K-dependent gamma-carboxylase. The C-terminus is proline-rich containing PPXY and PXXP motifs found in a variety of signaling and cytoskeletal proteins. This gene is highly expressed in the spinal cord. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(30089,'NCBI Gene PubMed Count',NULL,8043,NULL,NULL,NULL,7,NULL,NULL,NULL),(30090,'NCBI Gene PubMed Count',NULL,8044,NULL,NULL,NULL,9,NULL,NULL,NULL),(30091,'NCBI Gene Summary',NULL,8045,NULL,'This gene encodes a transcriptional co-activator that interacts with the acidic domain of Epstein-Barr virus nuclear antigen 2 (EBNA 2), a transcriptional activator that is required for B-lymphocyte transformation. Other transcription factors that interact with this protein are signal transducers and activators of transcription, STATs. This protein is also thought to be essential for normal cell growth. A similar protein in mammals and other organisms is a component of the RNA-induced silencing complex (RISC). [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(30092,'NCBI Gene PubMed Count',NULL,8045,NULL,NULL,NULL,72,NULL,NULL,NULL),(30093,'NCBI Gene Summary',NULL,8046,NULL,'Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(30094,'NCBI Gene PubMed Count',NULL,8046,NULL,NULL,NULL,51,NULL,NULL,NULL),(30095,'NCBI Gene PubMed Count',NULL,8047,NULL,NULL,NULL,2,NULL,NULL,NULL),(30096,'NCBI Gene Summary',NULL,8048,NULL,'The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(30097,'NCBI Gene PubMed Count',NULL,8048,NULL,NULL,NULL,27,NULL,NULL,NULL),(30098,'NCBI Gene Summary',NULL,8049,NULL,'This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(30099,'NCBI Gene PubMed Count',NULL,8049,NULL,NULL,NULL,19,NULL,NULL,NULL),(30100,'NCBI Gene Summary',NULL,8050,NULL,'The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(30101,'NCBI Gene PubMed Count',NULL,8050,NULL,NULL,NULL,273,NULL,NULL,NULL),(30102,'NCBI Gene Summary',NULL,8051,NULL,'This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30103,'NCBI Gene PubMed Count',NULL,8051,NULL,NULL,NULL,34,NULL,NULL,NULL),(30104,'NCBI Gene Summary',NULL,8052,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ADP-ribosylation factor-like 2 (ARL2) gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(30105,'NCBI Gene PubMed Count',NULL,8052,NULL,NULL,NULL,18,NULL,NULL,NULL),(30106,'NCBI Gene Summary',NULL,8053,NULL,'This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(30107,'NCBI Gene PubMed Count',NULL,8053,NULL,NULL,NULL,840,NULL,NULL,NULL),(30108,'NCBI Gene Summary',NULL,8054,NULL,'Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30109,'NCBI Gene PubMed Count',NULL,8054,NULL,NULL,NULL,245,NULL,NULL,NULL),(30110,'NCBI Gene Summary',NULL,8055,NULL,'This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30111,'NCBI Gene PubMed Count',NULL,8055,NULL,NULL,NULL,32,NULL,NULL,NULL),(30112,'NCBI Gene Summary',NULL,8056,NULL,'This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(30113,'NCBI Gene PubMed Count',NULL,8056,NULL,NULL,NULL,33,NULL,NULL,NULL),(30114,'NCBI Gene Summary',NULL,8057,NULL,'This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30115,'NCBI Gene PubMed Count',NULL,8057,NULL,NULL,NULL,152,NULL,NULL,NULL),(30116,'NCBI Gene PubMed Count',NULL,8058,NULL,NULL,NULL,9,NULL,NULL,NULL),(30117,'NCBI Gene PubMed Count',NULL,8059,NULL,NULL,NULL,8,NULL,NULL,NULL),(30118,'NCBI Gene PubMed Count',NULL,8060,NULL,NULL,NULL,7,NULL,NULL,NULL),(30119,'NCBI Gene Summary',NULL,8061,NULL,'This gene encodes a cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogren\'s syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(30120,'NCBI Gene PubMed Count',NULL,8061,NULL,NULL,NULL,131,NULL,NULL,NULL),(30121,'NCBI Gene PubMed Count',NULL,8062,NULL,NULL,NULL,5,NULL,NULL,NULL),(30122,'NCBI Gene Summary',NULL,8063,NULL,'This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(30123,'NCBI Gene PubMed Count',NULL,8063,NULL,NULL,NULL,108,NULL,NULL,NULL),(30124,'NCBI Gene PubMed Count',NULL,8064,NULL,NULL,NULL,3,NULL,NULL,NULL),(30125,'NCBI Gene PubMed Count',NULL,8065,NULL,NULL,NULL,8,NULL,NULL,NULL),(30126,'NCBI Gene Summary',NULL,8066,NULL,'The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30127,'NCBI Gene PubMed Count',NULL,8066,NULL,NULL,NULL,51,NULL,NULL,NULL),(30128,'NCBI Gene Summary',NULL,8067,NULL,'This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(30129,'NCBI Gene PubMed Count',NULL,8067,NULL,NULL,NULL,9,NULL,NULL,NULL),(30130,'NCBI Gene Summary',NULL,8068,NULL,'SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(30131,'NCBI Gene PubMed Count',NULL,8068,NULL,NULL,NULL,14,NULL,NULL,NULL),(30132,'NCBI Gene PubMed Count',NULL,8069,NULL,NULL,NULL,17,NULL,NULL,NULL),(30133,'NCBI Gene Summary',NULL,8070,NULL,'By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30134,'NCBI Gene PubMed Count',NULL,8070,NULL,NULL,NULL,22,NULL,NULL,NULL),(30135,'NCBI Gene Summary',NULL,8071,NULL,'The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interactions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(30136,'NCBI Gene PubMed Count',NULL,8071,NULL,NULL,NULL,15,NULL,NULL,NULL),(30137,'NCBI Gene Summary',NULL,8072,NULL,'This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30138,'NCBI Gene PubMed Count',NULL,8072,NULL,NULL,NULL,4,NULL,NULL,NULL),(30139,'NCBI Gene PubMed Count',NULL,8073,NULL,NULL,NULL,82,NULL,NULL,NULL),(30140,'NCBI Gene PubMed Count',NULL,8074,NULL,NULL,NULL,37,NULL,NULL,NULL),(30141,'NCBI Gene PubMed Count',NULL,8075,NULL,NULL,NULL,6,NULL,NULL,NULL),(30142,'NCBI Gene Summary',NULL,8076,NULL,'The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(30143,'NCBI Gene PubMed Count',NULL,8076,NULL,NULL,NULL,23,NULL,NULL,NULL),(30144,'NCBI Gene Summary',NULL,8077,NULL,'This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(30145,'NCBI Gene PubMed Count',NULL,8077,NULL,NULL,NULL,73,NULL,NULL,NULL),(30146,'NCBI Gene PubMed Count',NULL,8078,NULL,NULL,NULL,11,NULL,NULL,NULL),(30147,'NCBI Gene Summary',NULL,8079,NULL,'This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(30148,'NCBI Gene PubMed Count',NULL,8079,NULL,NULL,NULL,21,NULL,NULL,NULL),(30149,'NCBI Gene PubMed Count',NULL,8080,NULL,NULL,NULL,6,NULL,NULL,NULL),(30150,'NCBI Gene PubMed Count',NULL,8081,NULL,NULL,NULL,11,NULL,NULL,NULL),(30151,'NCBI Gene Summary',NULL,8082,NULL,'The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene \'mothers against decapentaplegic\' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30152,'NCBI Gene PubMed Count',NULL,8082,NULL,NULL,NULL,200,NULL,NULL,NULL),(30153,'NCBI Gene Summary',NULL,8083,NULL,'This gene is a member of a family of genes encoding transport proteins located in the endoplasmic reticulum and the Golgi. A similar gene in mouse is the target of microRNA miR-296, which is part of an imprinted cluster. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(30154,'NCBI Gene PubMed Count',NULL,8083,NULL,NULL,NULL,15,NULL,NULL,NULL),(30155,'NCBI Gene Summary',NULL,8084,NULL,'This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(30156,'NCBI Gene PubMed Count',NULL,8084,NULL,NULL,NULL,296,NULL,NULL,NULL),(30157,'NCBI Gene PubMed Count',NULL,8085,NULL,NULL,NULL,9,NULL,NULL,NULL),(30158,'NCBI Gene Summary',NULL,8086,NULL,'This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30159,'NCBI Gene PubMed Count',NULL,8086,NULL,NULL,NULL,4,NULL,NULL,NULL),(30160,'NCBI Gene Summary',NULL,8087,NULL,'The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(30161,'NCBI Gene PubMed Count',NULL,8087,NULL,NULL,NULL,119,NULL,NULL,NULL),(30162,'NCBI Gene Summary',NULL,8088,NULL,'This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(30163,'NCBI Gene PubMed Count',NULL,8088,NULL,NULL,NULL,14,NULL,NULL,NULL),(30164,'NCBI Gene Summary',NULL,8089,NULL,'Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30165,'NCBI Gene PubMed Count',NULL,8089,NULL,NULL,NULL,83,NULL,NULL,NULL),(30166,'NCBI Gene Summary',NULL,8090,NULL,'Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30167,'NCBI Gene PubMed Count',NULL,8090,NULL,NULL,NULL,31,NULL,NULL,NULL),(30168,'NCBI Gene Summary',NULL,8091,NULL,'This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(30169,'NCBI Gene PubMed Count',NULL,8091,NULL,NULL,NULL,11,NULL,NULL,NULL),(30170,'NCBI Gene PubMed Count',NULL,8092,NULL,NULL,NULL,4,NULL,NULL,NULL),(30171,'NCBI Gene Summary',NULL,8093,NULL,'This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(30172,'NCBI Gene PubMed Count',NULL,8093,NULL,NULL,NULL,13,NULL,NULL,NULL),(30173,'NCBI Gene PubMed Count',NULL,8094,NULL,NULL,NULL,10,NULL,NULL,NULL),(30174,'NCBI Gene Summary',NULL,8095,NULL,'This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(30175,'NCBI Gene PubMed Count',NULL,8095,NULL,NULL,NULL,135,NULL,NULL,NULL),(30176,'NCBI Gene Summary',NULL,8096,NULL,'The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(30177,'NCBI Gene PubMed Count',NULL,8096,NULL,NULL,NULL,40,NULL,NULL,NULL),(30178,'NCBI Gene PubMed Count',NULL,8097,NULL,NULL,NULL,7,NULL,NULL,NULL),(30179,'NCBI Gene Summary',NULL,8098,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30180,'NCBI Gene PubMed Count',NULL,8098,NULL,NULL,NULL,53,NULL,NULL,NULL),(30181,'NCBI Gene Summary',NULL,8099,NULL,'SNX20 interacts with the cytoplasmic domain of PSGL1 (SELPLG; MIM 600738) and cycles PSGL1 into endosomes.[supplied by OMIM, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(30182,'NCBI Gene PubMed Count',NULL,8099,NULL,NULL,NULL,12,NULL,NULL,NULL),(30183,'NCBI Gene Summary',NULL,8100,NULL,'This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30184,'NCBI Gene PubMed Count',NULL,8100,NULL,NULL,NULL,50,NULL,NULL,NULL),(30185,'NCBI Gene PubMed Count',NULL,8101,NULL,NULL,NULL,5,NULL,NULL,NULL),(30186,'NCBI Gene PubMed Count',NULL,8102,NULL,NULL,NULL,10,NULL,NULL,NULL),(30187,'NCBI Gene PubMed Count',NULL,8103,NULL,NULL,NULL,8,NULL,NULL,NULL),(30188,'NCBI Gene Summary',NULL,8104,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(30189,'NCBI Gene PubMed Count',NULL,8104,NULL,NULL,NULL,33,NULL,NULL,NULL),(30190,'NCBI Gene PubMed Count',NULL,8105,NULL,NULL,NULL,30,NULL,NULL,NULL),(30191,'NCBI Gene PubMed Count',NULL,8106,NULL,NULL,NULL,11,NULL,NULL,NULL),(30192,'NCBI Gene PubMed Count',NULL,8107,NULL,NULL,NULL,9,NULL,NULL,NULL),(30193,'NCBI Gene PubMed Count',NULL,8108,NULL,NULL,NULL,4,NULL,NULL,NULL),(30194,'NCBI Gene PubMed Count',NULL,8109,NULL,NULL,NULL,12,NULL,NULL,NULL),(30195,'NCBI Gene PubMed Count',NULL,8110,NULL,NULL,NULL,3,NULL,NULL,NULL),(30196,'NCBI Gene PubMed Count',NULL,8111,NULL,NULL,NULL,42,NULL,NULL,NULL),(30197,'NCBI Gene Summary',NULL,8112,NULL,'The protein encoded by this gene is a secreted lung surfactant protein and a downstream target of thyroid transcription factor. A single nucleotide polymorphism in the promoter of this gene results in susceptibility to asthma.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(30198,'NCBI Gene PubMed Count',NULL,8112,NULL,NULL,NULL,26,NULL,NULL,NULL),(30199,'NCBI Gene PubMed Count',NULL,8113,NULL,NULL,NULL,2,NULL,NULL,NULL),(30200,'NCBI Gene Summary',NULL,8114,NULL,'This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30201,'NCBI Gene PubMed Count',NULL,8114,NULL,NULL,NULL,20,NULL,NULL,NULL),(30202,'NCBI Gene PubMed Count',NULL,8115,NULL,NULL,NULL,17,NULL,NULL,NULL),(30203,'NCBI Gene PubMed Count',NULL,8116,NULL,NULL,NULL,23,NULL,NULL,NULL),(30204,'NCBI Gene Summary',NULL,8117,NULL,'The protein encoded by this gene is a member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidine 5\'-monophospho-N-acetylneuraminic acid to terminal positions on sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. This protein has high specificity for neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the formation of selectin ligands and sialyl Lewis X, a carbohydrate important for cell-to-cell recognition and a blood group antigen. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(30205,'NCBI Gene PubMed Count',NULL,8117,NULL,NULL,NULL,21,NULL,NULL,NULL),(30206,'NCBI Gene Summary',NULL,8118,NULL,'This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(30207,'NCBI Gene PubMed Count',NULL,8118,NULL,NULL,NULL,13,NULL,NULL,NULL),(30208,'NCBI Gene PubMed Count',NULL,8119,NULL,NULL,NULL,7,NULL,NULL,NULL),(30209,'NCBI Gene PubMed Count',NULL,8120,NULL,NULL,NULL,9,NULL,NULL,NULL),(30210,'NCBI Gene Summary',NULL,8121,NULL,'This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30211,'NCBI Gene PubMed Count',NULL,8121,NULL,NULL,NULL,16,NULL,NULL,NULL),(30212,'NCBI Gene PubMed Count',NULL,8122,NULL,NULL,NULL,8,NULL,NULL,NULL),(30213,'NCBI Gene Summary',NULL,8123,NULL,'This gene encodes a novel, secreted member of the Ly6/uPAR (LU) superfamily of proteins containing the unique three-finger LU domain. This gene is mainly expressed in epithelial cells, including skin and keratinocytes, and is up-regulated in psoriatic skin lesions, suggesting its involvement in the pathophysiology of psoriasis. Alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (LYNX1) generates naturally-occurring transcripts (LYNX1-SLURP2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(30214,'NCBI Gene PubMed Count',NULL,8123,NULL,NULL,NULL,11,NULL,NULL,NULL),(30215,'NCBI Gene PubMed Count',NULL,8124,NULL,NULL,NULL,0,NULL,NULL,NULL),(30216,'NCBI Gene Summary',NULL,8125,NULL,'This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(30217,'NCBI Gene PubMed Count',NULL,8125,NULL,NULL,NULL,39,NULL,NULL,NULL),(30218,'NCBI Gene Summary',NULL,8126,NULL,'This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(30219,'NCBI Gene PubMed Count',NULL,8126,NULL,NULL,NULL,20,NULL,NULL,NULL),(30220,'NCBI Gene PubMed Count',NULL,8127,NULL,NULL,NULL,5,NULL,NULL,NULL),(30221,'NCBI Gene Summary',NULL,8128,NULL,'SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(30222,'NCBI Gene PubMed Count',NULL,8128,NULL,NULL,NULL,49,NULL,NULL,NULL),(30223,'NCBI Gene Summary',NULL,8129,NULL,'The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila \'mothers against decapentaplegic\' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(30224,'NCBI Gene PubMed Count',NULL,8129,NULL,NULL,NULL,69,NULL,NULL,NULL),(30225,'NCBI Gene Summary',NULL,8130,NULL,'This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30226,'NCBI Gene PubMed Count',NULL,8130,NULL,NULL,NULL,40,NULL,NULL,NULL),(30227,'NCBI Gene PubMed Count',NULL,8131,NULL,NULL,NULL,10,NULL,NULL,NULL),(30228,'NCBI Gene Summary',NULL,8132,NULL,'The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(30229,'NCBI Gene PubMed Count',NULL,8132,NULL,NULL,NULL,36,NULL,NULL,NULL),(30230,'NCBI Gene Summary',NULL,8133,NULL,'Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30231,'NCBI Gene PubMed Count',NULL,8133,NULL,NULL,NULL,15,NULL,NULL,NULL),(30232,'NCBI Gene Summary',NULL,8134,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The protein encoded by this gene associates with late endosome membranes as is involved in tubule formation, cholesterol transport, and transport of tetraspanin CD81. The encoded protein also inhibits cell migration and tumorigenesis. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(30233,'NCBI Gene PubMed Count',NULL,8134,NULL,NULL,NULL,17,NULL,NULL,NULL),(30234,'NCBI Gene Summary',NULL,8135,NULL,'This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(30235,'NCBI Gene PubMed Count',NULL,8135,NULL,NULL,NULL,26,NULL,NULL,NULL),(30236,'NCBI Gene Summary',NULL,8136,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(30237,'NCBI Gene PubMed Count',NULL,8136,NULL,NULL,NULL,28,NULL,NULL,NULL),(30238,'NCBI Gene Summary',NULL,8137,NULL,'Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(30239,'NCBI Gene PubMed Count',NULL,8137,NULL,NULL,NULL,17,NULL,NULL,NULL),(30240,'NCBI Gene Summary',NULL,8138,NULL,'SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30241,'NCBI Gene PubMed Count',NULL,8138,NULL,NULL,NULL,10,NULL,NULL,NULL),(30242,'NCBI Gene Summary',NULL,8139,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(30243,'NCBI Gene PubMed Count',NULL,8139,NULL,NULL,NULL,51,NULL,NULL,NULL),(30244,'NCBI Gene Summary',NULL,8140,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30245,'NCBI Gene PubMed Count',NULL,8140,NULL,NULL,NULL,9,NULL,NULL,NULL),(30246,'NCBI Gene PubMed Count',NULL,8141,NULL,NULL,NULL,6,NULL,NULL,NULL),(30247,'NCBI Gene Summary',NULL,8142,NULL,'This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(30248,'NCBI Gene PubMed Count',NULL,8142,NULL,NULL,NULL,55,NULL,NULL,NULL),(30249,'NCBI Gene PubMed Count',NULL,8143,NULL,NULL,NULL,6,NULL,NULL,NULL),(30250,'NCBI Gene PubMed Count',NULL,8144,NULL,NULL,NULL,6,NULL,NULL,NULL),(30251,'NCBI Gene PubMed Count',NULL,8145,NULL,NULL,NULL,2,NULL,NULL,NULL),(30252,'NCBI Gene PubMed Count',NULL,8146,NULL,NULL,NULL,8,NULL,NULL,NULL),(30253,'NCBI Gene Summary',NULL,8147,NULL,'The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30254,'NCBI Gene PubMed Count',NULL,8147,NULL,NULL,NULL,418,NULL,NULL,NULL),(30255,'NCBI Gene Summary',NULL,8148,NULL,'The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(30256,'NCBI Gene PubMed Count',NULL,8148,NULL,NULL,NULL,53,NULL,NULL,NULL),(30257,'NCBI Gene PubMed Count',NULL,8149,NULL,NULL,NULL,64,NULL,NULL,NULL),(30258,'NCBI Gene Summary',NULL,8150,NULL,'This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(30259,'NCBI Gene PubMed Count',NULL,8150,NULL,NULL,NULL,56,NULL,NULL,NULL),(30260,'NCBI Gene PubMed Count',NULL,8151,NULL,NULL,NULL,15,NULL,NULL,NULL),(30261,'NCBI Gene Summary',NULL,8152,NULL,'This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(30262,'NCBI Gene PubMed Count',NULL,8152,NULL,NULL,NULL,25,NULL,NULL,NULL),(30263,'NCBI Gene Summary',NULL,8153,NULL,'This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseudogene for this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(30264,'NCBI Gene PubMed Count',NULL,8153,NULL,NULL,NULL,13,NULL,NULL,NULL),(30265,'NCBI Gene Summary',NULL,8154,NULL,'The secreted protein encoded by this gene is involved in the formation of a gel matrix that encases ejaculated spermatozoa. Proteolysis by the prostate-specific antigen (PSA) breaks down the gel matrix and allows the spermatozoa to move more freely. The encoded protein is found in lesser abundance than a similar semenogelin protein. An antibacterial activity has been found for a antimicrobial peptide isolated from this protein. The genes encoding these two semenogelin proteins are found in a cluster on chromosome 20. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(30266,'NCBI Gene PubMed Count',NULL,8154,NULL,NULL,NULL,29,NULL,NULL,NULL),(30267,'NCBI Gene PubMed Count',NULL,8155,NULL,NULL,NULL,16,NULL,NULL,NULL),(30268,'NCBI Gene PubMed Count',NULL,8156,NULL,NULL,NULL,17,NULL,NULL,NULL),(30269,'NCBI Gene Summary',NULL,8157,NULL,'SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30270,'NCBI Gene PubMed Count',NULL,8157,NULL,NULL,NULL,13,NULL,NULL,NULL),(30271,'NCBI Gene PubMed Count',NULL,8158,NULL,NULL,NULL,14,NULL,NULL,NULL),(30272,'NCBI Gene PubMed Count',NULL,8159,NULL,NULL,NULL,4,NULL,NULL,NULL),(30273,'NCBI Gene PubMed Count',NULL,8160,NULL,NULL,NULL,1,NULL,NULL,NULL),(30274,'NCBI Gene PubMed Count',NULL,8161,NULL,NULL,NULL,103,NULL,NULL,NULL),(30275,'NCBI Gene PubMed Count',NULL,8162,NULL,NULL,NULL,3,NULL,NULL,NULL),(30276,'NCBI Gene PubMed Count',NULL,8163,NULL,NULL,NULL,2,NULL,NULL,NULL),(30277,'NCBI Gene Summary',NULL,8164,NULL,'The protein encoded by this gene is a member of the shugoshin family of proteins. This protein is thought to protect centromeric cohesin from cleavage during mitotic prophase by preventing phosphorylation of a cohesin subunit. Reduced expression of this gene leads to the premature loss of centromeric cohesion, mis-segregation of sister chromatids, and mitotic arrest. Evidence suggests that this protein also protects a small subset of cohesin found along the length of the chromosome arms during mitotic prophase. An isoform lacking exon 6 has been shown to play a role in the cohesion of centrioles (PMID: 16582621 and PMID:18331714). Mutations in this gene have been associated with Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, characterized by the co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal Pseudo-obstruction (CIPO) within the first four decades of life (PMID:25282101). Fibroblast cells from CAID patients exhibited both increased cell proliferation and higher rates of senescence. Pseudogenes of this gene have been found on chromosomes 1 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(30278,'NCBI Gene PubMed Count',NULL,8164,NULL,NULL,NULL,53,NULL,NULL,NULL),(30279,'NCBI Gene Summary',NULL,8165,NULL,'This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(30280,'NCBI Gene PubMed Count',NULL,8165,NULL,NULL,NULL,16,NULL,NULL,NULL),(30281,'NCBI Gene Summary',NULL,8166,NULL,'This gene encodes an E3 ubiquitin ligase that regulates cell cycle progression, cell proliferation and apoptosis. The N-terminus of this protein binds to the cytoplasmic tail of the CD27 antigen, a member of the tumor necrosis factor receptor (TNFR) superfamily. In response to UV radiation-induced DNA damage, this protein has been shown to mediate the ubiquitination of proliferating cell nuclear antigen (PCNA), an important step in translesion DNA synthesis. [provided by RefSeq, Sep 2018]',NULL,NULL,NULL,NULL,NULL),(30282,'NCBI Gene PubMed Count',NULL,8166,NULL,NULL,NULL,39,NULL,NULL,NULL),(30283,'NCBI Gene PubMed Count',NULL,8167,NULL,NULL,NULL,3,NULL,NULL,NULL),(30284,'NCBI Gene PubMed Count',NULL,8168,NULL,NULL,NULL,3,NULL,NULL,NULL),(30285,'NCBI Gene PubMed Count',NULL,8169,NULL,NULL,NULL,37,NULL,NULL,NULL),(30286,'NCBI Gene PubMed Count',NULL,8170,NULL,NULL,NULL,11,NULL,NULL,NULL),(30287,'NCBI Gene Summary',NULL,8171,NULL,'The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(30288,'NCBI Gene PubMed Count',NULL,8171,NULL,NULL,NULL,252,NULL,NULL,NULL),(30289,'NCBI Gene Summary',NULL,8172,NULL,'Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(30290,'NCBI Gene PubMed Count',NULL,8172,NULL,NULL,NULL,322,NULL,NULL,NULL),(30291,'NCBI Gene Summary',NULL,8173,NULL,'This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(30292,'NCBI Gene PubMed Count',NULL,8173,NULL,NULL,NULL,12,NULL,NULL,NULL),(30293,'NCBI Gene Summary',NULL,8174,NULL,'The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and high specificity, and suggested to be involved in the processes that regulate the differentiation of endothelial cells. Activation of this receptor induces cell-cell adhesion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(30294,'NCBI Gene PubMed Count',NULL,8174,NULL,NULL,NULL,178,NULL,NULL,NULL),(30295,'NCBI Gene Summary',NULL,8175,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30296,'NCBI Gene PubMed Count',NULL,8175,NULL,NULL,NULL,104,NULL,NULL,NULL),(30297,'NCBI Gene Summary',NULL,8176,NULL,'This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(30298,'NCBI Gene PubMed Count',NULL,8176,NULL,NULL,NULL,13,NULL,NULL,NULL),(30299,'NCBI Gene Summary',NULL,8177,NULL,'This gene encodes a member of the EDG family of receptors, which are G protein-coupled receptors. This protein has been identified as a functional receptor for sphingosine 1-phosphate and likely contributes to the regulation of angiogenesis and vascular endothelial cell function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30300,'NCBI Gene PubMed Count',NULL,8177,NULL,NULL,NULL,77,NULL,NULL,NULL),(30301,'NCBI Gene Summary',NULL,8178,NULL,'This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(30302,'NCBI Gene PubMed Count',NULL,8178,NULL,NULL,NULL,18,NULL,NULL,NULL),(30303,'NCBI Gene PubMed Count',NULL,8179,NULL,NULL,NULL,14,NULL,NULL,NULL),(30304,'NCBI Gene Summary',NULL,8180,NULL,'This gene encodes a transmembrane protein which is a member of the drug/metabolite transporter protein superfamily. The encoded protein may play a role in the regulation of calcium levels inside the cell. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(30305,'NCBI Gene PubMed Count',NULL,8180,NULL,NULL,NULL,13,NULL,NULL,NULL),(30306,'NCBI Gene PubMed Count',NULL,8181,NULL,NULL,NULL,14,NULL,NULL,NULL),(30307,'NCBI Gene PubMed Count',NULL,8182,NULL,NULL,NULL,2,NULL,NULL,NULL),(30308,'NCBI Gene PubMed Count',NULL,8183,NULL,NULL,NULL,1,NULL,NULL,NULL),(30309,'NCBI Gene PubMed Count',NULL,8184,NULL,NULL,NULL,0,NULL,NULL,NULL),(30310,'NCBI Gene PubMed Count',NULL,8185,NULL,NULL,NULL,2,NULL,NULL,NULL),(30311,'NCBI Gene PubMed Count',NULL,8186,NULL,NULL,NULL,3,NULL,NULL,NULL),(30312,'NCBI Gene Summary',NULL,8187,NULL,'Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30313,'NCBI Gene PubMed Count',NULL,8187,NULL,NULL,NULL,24,NULL,NULL,NULL),(30314,'NCBI Gene PubMed Count',NULL,8188,NULL,NULL,NULL,15,NULL,NULL,NULL),(30315,'NCBI Gene Summary',NULL,8189,NULL,'This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(30316,'NCBI Gene PubMed Count',NULL,8189,NULL,NULL,NULL,56,NULL,NULL,NULL),(30317,'NCBI Gene PubMed Count',NULL,8190,NULL,NULL,NULL,9,NULL,NULL,NULL),(30318,'NCBI Gene Summary',NULL,8191,NULL,'The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(30319,'NCBI Gene PubMed Count',NULL,8191,NULL,NULL,NULL,10,NULL,NULL,NULL),(30320,'NCBI Gene PubMed Count',NULL,8192,NULL,NULL,NULL,7,NULL,NULL,NULL),(30321,'NCBI Gene PubMed Count',NULL,8193,NULL,NULL,NULL,6,NULL,NULL,NULL),(30322,'NCBI Gene Summary',NULL,8194,NULL,'This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(30323,'NCBI Gene PubMed Count',NULL,8194,NULL,NULL,NULL,67,NULL,NULL,NULL),(30324,'NCBI Gene Summary',NULL,8195,NULL,'The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4\'-Di-isothiocyanatostilbene-2,2\'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(30325,'NCBI Gene PubMed Count',NULL,8195,NULL,NULL,NULL,13,NULL,NULL,NULL),(30326,'NCBI Gene Summary',NULL,8196,NULL,'This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(30327,'NCBI Gene PubMed Count',NULL,8196,NULL,NULL,NULL,23,NULL,NULL,NULL),(30328,'NCBI Gene Summary',NULL,8197,NULL,'This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that \"the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins\" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(30329,'NCBI Gene PubMed Count',NULL,8197,NULL,NULL,NULL,73,NULL,NULL,NULL),(30330,'NCBI Gene Summary',NULL,8198,NULL,'This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(30331,'NCBI Gene PubMed Count',NULL,8198,NULL,NULL,NULL,35,NULL,NULL,NULL),(30332,'NCBI Gene Summary',NULL,8199,NULL,'The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(30333,'NCBI Gene PubMed Count',NULL,8199,NULL,NULL,NULL,8,NULL,NULL,NULL),(30334,'NCBI Gene PubMed Count',NULL,8200,NULL,NULL,NULL,8,NULL,NULL,NULL),(30335,'NCBI Gene PubMed Count',NULL,8201,NULL,NULL,NULL,25,NULL,NULL,NULL),(30336,'NCBI Gene Summary',NULL,8202,NULL,'This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30337,'NCBI Gene PubMed Count',NULL,8202,NULL,NULL,NULL,62,NULL,NULL,NULL),(30338,'NCBI Gene PubMed Count',NULL,8203,NULL,NULL,NULL,9,NULL,NULL,NULL),(30339,'NCBI Gene Summary',NULL,8204,NULL,'The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(30340,'NCBI Gene PubMed Count',NULL,8204,NULL,NULL,NULL,79,NULL,NULL,NULL),(30341,'NCBI Gene PubMed Count',NULL,8205,NULL,NULL,NULL,11,NULL,NULL,NULL),(30342,'NCBI Gene Summary',NULL,8206,NULL,'This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(30343,'NCBI Gene PubMed Count',NULL,8206,NULL,NULL,NULL,193,NULL,NULL,NULL),(30344,'NCBI Gene Summary',NULL,8207,NULL,'This gene product belongs to the SCAMP family of proteins, which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that these protein family members may function at the same site during vesicular transport rather than in separate pathways. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(30345,'NCBI Gene PubMed Count',NULL,8207,NULL,NULL,NULL,26,NULL,NULL,NULL),(30346,'NCBI Gene Summary',NULL,8208,NULL,'The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(30347,'NCBI Gene PubMed Count',NULL,8208,NULL,NULL,NULL,27,NULL,NULL,NULL),(30348,'NCBI Gene Summary',NULL,8209,NULL,'This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30349,'NCBI Gene PubMed Count',NULL,8209,NULL,NULL,NULL,11,NULL,NULL,NULL),(30350,'NCBI Gene Summary',NULL,8210,NULL,'The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(30351,'NCBI Gene PubMed Count',NULL,8210,NULL,NULL,NULL,59,NULL,NULL,NULL),(30352,'NCBI Gene Summary',NULL,8211,NULL,'This gene encodes a member of the Polycomb group proteins. These proteins form the Polycomb repressive complexes which are involved in transcriptional repression. The encoded protein binds histone peptides that are monomethylated at lysine residues and may be involved in regulating homeotic gene expression during development. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(30353,'NCBI Gene PubMed Count',NULL,8211,NULL,NULL,NULL,12,NULL,NULL,NULL),(30354,'NCBI Gene Summary',NULL,8212,NULL,'Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(30355,'NCBI Gene PubMed Count',NULL,8212,NULL,NULL,NULL,127,NULL,NULL,NULL),(30356,'NCBI Gene Summary',NULL,8213,NULL,'Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(30357,'NCBI Gene PubMed Count',NULL,8213,NULL,NULL,NULL,57,NULL,NULL,NULL),(30358,'NCBI Gene Summary',NULL,8214,NULL,'This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(30359,'NCBI Gene PubMed Count',NULL,8214,NULL,NULL,NULL,15,NULL,NULL,NULL),(30360,'NCBI Gene PubMed Count',NULL,8215,NULL,NULL,NULL,27,NULL,NULL,NULL),(30361,'NCBI Gene Summary',NULL,8216,NULL,'This gene encodes a short coiled-coiled domain-containing protein that localizes to the Golgi apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudogenes of this gene are found on chromosomes 1 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(30362,'NCBI Gene PubMed Count',NULL,8216,NULL,NULL,NULL,13,NULL,NULL,NULL),(30363,'NCBI Gene Summary',NULL,8217,NULL,'This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30364,'NCBI Gene PubMed Count',NULL,8217,NULL,NULL,NULL,22,NULL,NULL,NULL),(30365,'NCBI Gene Summary',NULL,8218,NULL,'The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(30366,'NCBI Gene PubMed Count',NULL,8218,NULL,NULL,NULL,24,NULL,NULL,NULL),(30367,'NCBI Gene Summary',NULL,8219,NULL,'The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(30368,'NCBI Gene PubMed Count',NULL,8219,NULL,NULL,NULL,17,NULL,NULL,NULL),(30369,'NCBI Gene Summary',NULL,8220,NULL,'Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30370,'NCBI Gene PubMed Count',NULL,8220,NULL,NULL,NULL,36,NULL,NULL,NULL),(30371,'NCBI Gene Summary',NULL,8221,NULL,'The protein encoded by this gene is believed to be a secretory protein. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splicing results in both coding and non-coding variants. A pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(30372,'NCBI Gene PubMed Count',NULL,8221,NULL,NULL,NULL,11,NULL,NULL,NULL),(30373,'NCBI Gene Summary',NULL,8222,NULL,'This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30374,'NCBI Gene PubMed Count',NULL,8222,NULL,NULL,NULL,17,NULL,NULL,NULL),(30375,'NCBI Gene PubMed Count',NULL,8223,NULL,NULL,NULL,6,NULL,NULL,NULL),(30376,'NCBI Gene Summary',NULL,8224,NULL,'This gene belongs to the reticulon family of highly conserved genes that are preferentially expressed in neuroendocrine tissues. This family of proteins interact with, and modulate the activity of beta-amyloid converting enzyme 1 (BACE1), and the production of amyloid-beta. An increase in the expression of any reticulon protein substantially reduces the production of amyloid-beta, suggesting that reticulon proteins are negative modulators of BACE1 in cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, and pseudogenes of this gene are located on chromosomes 4 and 12. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(30377,'NCBI Gene PubMed Count',NULL,8224,NULL,NULL,NULL,59,NULL,NULL,NULL),(30378,'NCBI Gene Summary',NULL,8225,NULL,'Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 7p. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30379,'NCBI Gene PubMed Count',NULL,8225,NULL,NULL,NULL,15,NULL,NULL,NULL),(30380,'NCBI Gene PubMed Count',NULL,8226,NULL,NULL,NULL,5,NULL,NULL,NULL),(30381,'NCBI Gene PubMed Count',NULL,8227,NULL,NULL,NULL,10,NULL,NULL,NULL),(30382,'NCBI Gene Summary',NULL,8228,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has a Ca2+ affinity 20- to 100-fold higher than the other S100 proteins studied under identical conditions. This protein also binds Zn2+ and Cu2+, and Cu2+ strongly which impairs the binding of Ca2+. This protein is expressed in very restricted regions of the adult brain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30383,'NCBI Gene PubMed Count',NULL,8228,NULL,NULL,NULL,17,NULL,NULL,NULL),(30384,'NCBI Gene Summary',NULL,8229,NULL,'This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(30385,'NCBI Gene PubMed Count',NULL,8229,NULL,NULL,NULL,39,NULL,NULL,NULL),(30386,'NCBI Gene Summary',NULL,8230,NULL,'This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(30387,'NCBI Gene PubMed Count',NULL,8230,NULL,NULL,NULL,60,NULL,NULL,NULL),(30388,'NCBI Gene Summary',NULL,8231,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(30389,'NCBI Gene PubMed Count',NULL,8231,NULL,NULL,NULL,300,NULL,NULL,NULL),(30390,'NCBI Gene Summary',NULL,8232,NULL,'The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(30391,'NCBI Gene PubMed Count',NULL,8232,NULL,NULL,NULL,45,NULL,NULL,NULL),(30392,'NCBI Gene PubMed Count',NULL,8233,NULL,NULL,NULL,10,NULL,NULL,NULL),(30393,'NCBI Gene Summary',NULL,8234,NULL,'This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(30394,'NCBI Gene PubMed Count',NULL,8234,NULL,NULL,NULL,8,NULL,NULL,NULL),(30395,'NCBI Gene Summary',NULL,8235,NULL,'This gene encodes a transmembrane protein which belongs to subfamily 35A of the solute carrier superfamily. The encoded protein is a nucleoside-sugar transporter. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(30396,'NCBI Gene PubMed Count',NULL,8235,NULL,NULL,NULL,10,NULL,NULL,NULL),(30397,'NCBI Gene Summary',NULL,8236,NULL,'Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30398,'NCBI Gene PubMed Count',NULL,8236,NULL,NULL,NULL,130,NULL,NULL,NULL),(30399,'NCBI Gene PubMed Count',NULL,8237,NULL,NULL,NULL,11,NULL,NULL,NULL),(30400,'NCBI Gene PubMed Count',NULL,8238,NULL,NULL,NULL,8,NULL,NULL,NULL),(30401,'NCBI Gene PubMed Count',NULL,8239,NULL,NULL,NULL,3,NULL,NULL,NULL),(30402,'NCBI Gene PubMed Count',NULL,8240,NULL,NULL,NULL,1,NULL,NULL,NULL),(30403,'NCBI Gene Summary',NULL,8241,NULL,'This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(30404,'NCBI Gene PubMed Count',NULL,8241,NULL,NULL,NULL,38,NULL,NULL,NULL),(30405,'NCBI Gene PubMed Count',NULL,8242,NULL,NULL,NULL,5,NULL,NULL,NULL),(30406,'NCBI Gene Summary',NULL,8243,NULL,'The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30407,'NCBI Gene PubMed Count',NULL,8243,NULL,NULL,NULL,11,NULL,NULL,NULL),(30408,'NCBI Gene Summary',NULL,8244,NULL,'Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(30409,'NCBI Gene PubMed Count',NULL,8244,NULL,NULL,NULL,22,NULL,NULL,NULL),(30410,'NCBI Gene PubMed Count',NULL,8245,NULL,NULL,NULL,5,NULL,NULL,NULL),(30411,'NCBI Gene Summary',NULL,8246,NULL,'This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(30412,'NCBI Gene PubMed Count',NULL,8246,NULL,NULL,NULL,29,NULL,NULL,NULL),(30413,'NCBI Gene PubMed Count',NULL,8247,NULL,NULL,NULL,13,NULL,NULL,NULL),(30414,'NCBI Gene PubMed Count',NULL,8248,NULL,NULL,NULL,13,NULL,NULL,NULL),(30415,'NCBI Gene PubMed Count',NULL,8249,NULL,NULL,NULL,10,NULL,NULL,NULL),(30416,'NCBI Gene Summary',NULL,8250,NULL,'This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsense mediated decay (NMD) pathway. This protein is a major autoantigen in human patients with autoimmune polyendocrine syndrome type 1 (APS1). [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(30417,'NCBI Gene PubMed Count',NULL,8250,NULL,NULL,NULL,9,NULL,NULL,NULL),(30418,'NCBI Gene Summary',NULL,8251,NULL,'This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(30419,'NCBI Gene PubMed Count',NULL,8251,NULL,NULL,NULL,34,NULL,NULL,NULL),(30420,'NCBI Gene Summary',NULL,8252,NULL,'This gene encodes a tyrosine-sulfated secretory protein abundant in peptidergic endocrine cells and neurons. This protein may serve as a precursor for regulatory peptides. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(30421,'NCBI Gene PubMed Count',NULL,8252,NULL,NULL,NULL,64,NULL,NULL,NULL),(30422,'NCBI Gene Summary',NULL,8253,NULL,'Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30423,'NCBI Gene PubMed Count',NULL,8253,NULL,NULL,NULL,17,NULL,NULL,NULL),(30424,'NCBI Gene PubMed Count',NULL,8254,NULL,NULL,NULL,40,NULL,NULL,NULL),(30425,'NCBI Gene Summary',NULL,8255,NULL,'Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(30426,'NCBI Gene PubMed Count',NULL,8255,NULL,NULL,NULL,23,NULL,NULL,NULL),(30427,'NCBI Gene Summary',NULL,8256,NULL,'This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(30428,'NCBI Gene PubMed Count',NULL,8256,NULL,NULL,NULL,18,NULL,NULL,NULL),(30429,'NCBI Gene Summary',NULL,8257,NULL,'The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30430,'NCBI Gene PubMed Count',NULL,8257,NULL,NULL,NULL,45,NULL,NULL,NULL),(30431,'NCBI Gene Summary',NULL,8258,NULL,'This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(30432,'NCBI Gene PubMed Count',NULL,8258,NULL,NULL,NULL,13,NULL,NULL,NULL),(30433,'NCBI Gene Summary',NULL,8259,NULL,'Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30434,'NCBI Gene PubMed Count',NULL,8259,NULL,NULL,NULL,29,NULL,NULL,NULL),(30435,'NCBI Gene Summary',NULL,8260,NULL,'This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(30436,'NCBI Gene PubMed Count',NULL,8260,NULL,NULL,NULL,12,NULL,NULL,NULL),(30437,'NCBI Gene PubMed Count',NULL,8261,NULL,NULL,NULL,3,NULL,NULL,NULL),(30438,'NCBI Gene PubMed Count',NULL,8262,NULL,NULL,NULL,5,NULL,NULL,NULL),(30439,'NCBI Gene Summary',NULL,8263,NULL,'Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30440,'NCBI Gene PubMed Count',NULL,8263,NULL,NULL,NULL,11,NULL,NULL,NULL),(30441,'NCBI Gene PubMed Count',NULL,8264,NULL,NULL,NULL,15,NULL,NULL,NULL),(30442,'NCBI Gene PubMed Count',NULL,8265,NULL,NULL,NULL,1,NULL,NULL,NULL),(30443,'NCBI Gene PubMed Count',NULL,8266,NULL,NULL,NULL,8,NULL,NULL,NULL),(30444,'NCBI Gene Summary',NULL,8267,NULL,'This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(30445,'NCBI Gene PubMed Count',NULL,8267,NULL,NULL,NULL,47,NULL,NULL,NULL),(30446,'NCBI Gene Summary',NULL,8268,NULL,'This gene encodes a SCAN box domain-containing protein. The SCAN domain is a highly conserved, leucine-rich motif of approximately 60 aa originally found within a subfamily of zinc finger proteins. This gene belongs to a family of genes that encode an isolated SCAN domain, but no zinc finger motif. This protein binds to and may regulate the function of the transcription factor myeloid zinc finger 1B. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(30447,'NCBI Gene PubMed Count',NULL,8268,NULL,NULL,NULL,18,NULL,NULL,NULL),(30448,'NCBI Gene PubMed Count',NULL,8269,NULL,NULL,NULL,8,NULL,NULL,NULL),(30449,'NCBI Gene PubMed Count',NULL,8270,NULL,NULL,NULL,1,NULL,NULL,NULL),(30450,'NCBI Gene Summary',NULL,8271,NULL,'This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(30451,'NCBI Gene PubMed Count',NULL,8271,NULL,NULL,NULL,18,NULL,NULL,NULL),(30452,'NCBI Gene Summary',NULL,8272,NULL,'The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30453,'NCBI Gene PubMed Count',NULL,8272,NULL,NULL,NULL,21,NULL,NULL,NULL),(30454,'NCBI Gene Summary',NULL,8273,NULL,'This gene encodes a transmembrane protein that is localized in the endoplasmic reticulum (ER). It is involved in the degradation process of misfolded proteins in the ER, and may also have a role in inflammation control. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Two additional phylogenetically conserved stem-loop structures (Stem-loop 1 and Stem-loop 2) in the 3\' UTR of this mRNA have been shown to function as modulators of Sec insertion. An alternatively spliced transcript variant, lacking the SECIS element and encoding a non-Sec containing shorter isoform, has been described for this gene (PMID:23614019). [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(30455,'NCBI Gene PubMed Count',NULL,8273,NULL,NULL,NULL,66,NULL,NULL,NULL),(30456,'NCBI Gene Summary',NULL,8274,NULL,'This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(30457,'NCBI Gene PubMed Count',NULL,8274,NULL,NULL,NULL,17,NULL,NULL,NULL),(30458,'NCBI Gene Summary',NULL,8275,NULL,'The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30459,'NCBI Gene PubMed Count',NULL,8275,NULL,NULL,NULL,47,NULL,NULL,NULL),(30460,'NCBI Gene Summary',NULL,8276,NULL,'The protein encoded by this gene belongs to the selenoprotein K family. It is a transmembrane protein that is localized in the endoplasmic reticulum (ER), and is involved in ER-associated degradation (ERAD) of misfolded, glycosylated proteins. It also has a role in the protection of cells from ER stress-induced apoptosis. Knockout studies in mice show the importance of this gene in promoting Ca(2+) flux in immune cells and mounting effective immune response. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Pseudogenes of this locus have been identified on chromosomes 6 and 19.[provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(30461,'NCBI Gene PubMed Count',NULL,8276,NULL,NULL,NULL,21,NULL,NULL,NULL),(30462,'NCBI Gene Summary',NULL,8277,NULL,'This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer\'s disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30463,'NCBI Gene PubMed Count',NULL,8277,NULL,NULL,NULL,146,NULL,NULL,NULL),(30464,'NCBI Gene Summary',NULL,8278,NULL,'This gene encodes a selenoprotein that is predominantly expressed in the liver and secreted into the plasma. This selenoprotein is unique in that it contains multiple selenocysteine (Sec) residues per polypeptide (10 in human), and accounts for most of the selenium in plasma. It has been implicated as an extracellular antioxidant, and in the transport of selenium to extra-hepatic tissues via apolipoprotein E receptor-2 (apoER2). Mice lacking this gene exhibit neurological dysfunction, suggesting its importance in normal brain function. Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The mRNA for this selenoprotein contains two SECIS elements. The use of alternative polyadenylation sites, one located in between the two SECIS elements, results in two populations of mRNAs containing either both (predominant) or just the upstream SECIS element (PMID:27881738). Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Oct 2018]',NULL,NULL,NULL,NULL,NULL),(30465,'NCBI Gene PubMed Count',NULL,8278,NULL,NULL,NULL,100,NULL,NULL,NULL),(30466,'NCBI Gene PubMed Count',NULL,8279,NULL,NULL,NULL,8,NULL,NULL,NULL),(30467,'NCBI Gene Summary',NULL,8280,NULL,'This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(30468,'NCBI Gene PubMed Count',NULL,8280,NULL,NULL,NULL,15,NULL,NULL,NULL),(30469,'NCBI Gene Summary',NULL,8281,NULL,'This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron\'s branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30470,'NCBI Gene PubMed Count',NULL,8281,NULL,NULL,NULL,31,NULL,NULL,NULL),(30471,'NCBI Gene Summary',NULL,8282,NULL,'This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(30472,'NCBI Gene PubMed Count',NULL,8282,NULL,NULL,NULL,182,NULL,NULL,NULL),(30473,'NCBI Gene Summary',NULL,8283,NULL,'This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30474,'NCBI Gene PubMed Count',NULL,8283,NULL,NULL,NULL,50,NULL,NULL,NULL),(30475,'NCBI Gene PubMed Count',NULL,8284,NULL,NULL,NULL,6,NULL,NULL,NULL),(30476,'NCBI Gene Summary',NULL,8285,NULL,'This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(30477,'NCBI Gene PubMed Count',NULL,8285,NULL,NULL,NULL,32,NULL,NULL,NULL),(30478,'NCBI Gene PubMed Count',NULL,8286,NULL,NULL,NULL,13,NULL,NULL,NULL),(30479,'NCBI Gene PubMed Count',NULL,8287,NULL,NULL,NULL,61,NULL,NULL,NULL),(30480,'NCBI Gene PubMed Count',NULL,8288,NULL,NULL,NULL,7,NULL,NULL,NULL),(30481,'NCBI Gene Summary',NULL,8289,NULL,'This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(30482,'NCBI Gene PubMed Count',NULL,8289,NULL,NULL,NULL,83,NULL,NULL,NULL),(30483,'NCBI Gene Summary',NULL,8290,NULL,'This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(30484,'NCBI Gene PubMed Count',NULL,8290,NULL,NULL,NULL,42,NULL,NULL,NULL),(30485,'NCBI Gene Summary',NULL,8291,NULL,'The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30486,'NCBI Gene PubMed Count',NULL,8291,NULL,NULL,NULL,14,NULL,NULL,NULL),(30487,'NCBI Gene Summary',NULL,8292,NULL,'This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(30488,'NCBI Gene PubMed Count',NULL,8292,NULL,NULL,NULL,92,NULL,NULL,NULL),(30489,'NCBI Gene PubMed Count',NULL,8293,NULL,NULL,NULL,35,NULL,NULL,NULL),(30490,'NCBI Gene PubMed Count',NULL,8294,NULL,NULL,NULL,7,NULL,NULL,NULL),(30491,'NCBI Gene Summary',NULL,8295,NULL,'The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30492,'NCBI Gene PubMed Count',NULL,8295,NULL,NULL,NULL,12,NULL,NULL,NULL),(30493,'NCBI Gene PubMed Count',NULL,8296,NULL,NULL,NULL,16,NULL,NULL,NULL),(30494,'NCBI Gene PubMed Count',NULL,8297,NULL,NULL,NULL,12,NULL,NULL,NULL),(30495,'NCBI Gene PubMed Count',NULL,8298,NULL,NULL,NULL,4,NULL,NULL,NULL),(30496,'NCBI Gene Summary',NULL,8299,NULL,'WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(30497,'NCBI Gene PubMed Count',NULL,8299,NULL,NULL,NULL,41,NULL,NULL,NULL),(30498,'NCBI Gene Summary',NULL,8300,NULL,'This gene encodes an integral membrane protein that belongs to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-golgi recycling pathways. This protein is also involved in protein trafficking in endosomal pathways. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(30499,'NCBI Gene PubMed Count',NULL,8300,NULL,NULL,NULL,21,NULL,NULL,NULL),(30500,'NCBI Gene Summary',NULL,8301,NULL,'The amino acid glycine acts as an inhibitory neurotransmitter in the central nervous system. The protein encoded by this gene is one of two transporters that stop glycine signaling by removing it from the synaptic cleft. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(30501,'NCBI Gene PubMed Count',NULL,8301,NULL,NULL,NULL,33,NULL,NULL,NULL),(30502,'NCBI Gene PubMed Count',NULL,8302,NULL,NULL,NULL,8,NULL,NULL,NULL),(30503,'NCBI Gene Summary',NULL,8303,NULL,'This gene encodes a member of the peptidase S26B family. The encoded protein is an 18kDa subunit of the signal peptidase complex and has been linked to cell migration and invasion, gastric cancer and lymph node metastasis. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(30504,'NCBI Gene PubMed Count',NULL,8303,NULL,NULL,NULL,17,NULL,NULL,NULL),(30505,'NCBI Gene Summary',NULL,8304,NULL,'This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(30506,'NCBI Gene PubMed Count',NULL,8304,NULL,NULL,NULL,61,NULL,NULL,NULL),(30507,'NCBI Gene PubMed Count',NULL,8305,NULL,NULL,NULL,6,NULL,NULL,NULL),(30508,'NCBI Gene Summary',NULL,8306,NULL,'This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(30509,'NCBI Gene PubMed Count',NULL,8306,NULL,NULL,NULL,147,NULL,NULL,NULL),(30510,'NCBI Gene Summary',NULL,8307,NULL,'This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(30511,'NCBI Gene PubMed Count',NULL,8307,NULL,NULL,NULL,18,NULL,NULL,NULL),(30512,'NCBI Gene Summary',NULL,8308,NULL,'This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(30513,'NCBI Gene PubMed Count',NULL,8308,NULL,NULL,NULL,35,NULL,NULL,NULL),(30514,'NCBI Gene PubMed Count',NULL,8309,NULL,NULL,NULL,9,NULL,NULL,NULL),(30515,'NCBI Gene Summary',NULL,8312,NULL,'The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(30516,'NCBI Gene PubMed Count',NULL,8312,NULL,NULL,NULL,46,NULL,NULL,NULL),(30517,'NCBI Gene PubMed Count',NULL,8313,NULL,NULL,NULL,20,NULL,NULL,NULL),(30518,'NCBI Gene PubMed Count',NULL,8314,NULL,NULL,NULL,4,NULL,NULL,NULL),(30519,'NCBI Gene Summary',NULL,8315,NULL,'Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(30520,'NCBI Gene PubMed Count',NULL,8315,NULL,NULL,NULL,65,NULL,NULL,NULL),(30521,'NCBI Gene PubMed Count',NULL,8316,NULL,NULL,NULL,14,NULL,NULL,NULL),(30522,'NCBI Gene Summary',NULL,8317,NULL,'This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(30523,'NCBI Gene PubMed Count',NULL,8317,NULL,NULL,NULL,24,NULL,NULL,NULL),(30524,'NCBI Gene PubMed Count',NULL,8318,NULL,NULL,NULL,26,NULL,NULL,NULL),(30525,'NCBI Gene PubMed Count',NULL,8319,NULL,NULL,NULL,9,NULL,NULL,NULL),(30526,'NCBI Gene Summary',NULL,8320,NULL,'The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(30527,'NCBI Gene PubMed Count',NULL,8320,NULL,NULL,NULL,9,NULL,NULL,NULL),(30528,'NCBI Gene Summary',NULL,8321,NULL,'This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(30529,'NCBI Gene PubMed Count',NULL,8321,NULL,NULL,NULL,21,NULL,NULL,NULL),(30530,'NCBI Gene Summary',NULL,8322,NULL,'SDS3 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30531,'NCBI Gene PubMed Count',NULL,8322,NULL,NULL,NULL,18,NULL,NULL,NULL),(30532,'NCBI Gene Summary',NULL,8323,NULL,'The protein encoded by this gene is one of the essential components of the machinery involved in co-translational insertion of selenocysteine (Sec) into selenoproteins. Sec is encoded by the UGA codon, which normally signals translation termination. The recoding of UGA as Sec codon requires a Sec insertion sequence (SECIS) element; present in the 3\' untranslated regions of eukaryotic selenoprotein mRNAs. This protein specifically binds to the SECIS element, which is stimulated by a Sec-specific translation elongation factor. Mutations in this gene have been associated with reduction in enzymatic activity of type II iodothyronine deiodinase (a selenoprotein) and abnormal thyroid hormone metabolism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(30533,'NCBI Gene PubMed Count',NULL,8323,NULL,NULL,NULL,37,NULL,NULL,NULL),(30534,'NCBI Gene PubMed Count',NULL,8324,NULL,NULL,NULL,8,NULL,NULL,NULL),(30535,'NCBI Gene Summary',NULL,8325,NULL,'The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(30536,'NCBI Gene PubMed Count',NULL,8325,NULL,NULL,NULL,17,NULL,NULL,NULL),(30537,'NCBI Gene Summary',NULL,8326,NULL,'This gene encodes a selenoprotein, containing a selenocysteine (Sec) residue at the active site. Sec is encoded by the UGA codon that normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is localized in the endoplasmic reticulum. It belongs to the SelWTH family that possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif found in several redox active proteins. Studies in mice indicate a crucial role for this gene in the protection of dopaminergic neurons against oxidative stress in Parkinson\'s disease, and in the control of glucose homeostasis in pancreatic beta-cells. Pseudogenes of this locus have been identified on chromosomes 9 and 5. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(30538,'NCBI Gene PubMed Count',NULL,8326,NULL,NULL,NULL,13,NULL,NULL,NULL),(30539,'NCBI Gene Summary',NULL,8327,NULL,'This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(30540,'NCBI Gene PubMed Count',NULL,8327,NULL,NULL,NULL,32,NULL,NULL,NULL),(30541,'NCBI Gene Summary',NULL,8328,NULL,'SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30542,'NCBI Gene PubMed Count',NULL,8328,NULL,NULL,NULL,5,NULL,NULL,NULL),(30543,'NCBI Gene Summary',NULL,8329,NULL,'This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(30544,'NCBI Gene PubMed Count',NULL,8329,NULL,NULL,NULL,19,NULL,NULL,NULL),(30545,'NCBI Gene Summary',NULL,8330,NULL,'This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(30546,'NCBI Gene PubMed Count',NULL,8330,NULL,NULL,NULL,33,NULL,NULL,NULL),(30547,'NCBI Gene PubMed Count',NULL,8331,NULL,NULL,NULL,14,NULL,NULL,NULL),(30548,'NCBI Gene Summary',NULL,8332,NULL,'This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(30549,'NCBI Gene PubMed Count',NULL,8332,NULL,NULL,NULL,21,NULL,NULL,NULL),(30550,'NCBI Gene Summary',NULL,8333,NULL,'This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(30551,'NCBI Gene PubMed Count',NULL,8333,NULL,NULL,NULL,38,NULL,NULL,NULL),(30552,'NCBI Gene Summary',NULL,8334,NULL,'Huntington\'s disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(30553,'NCBI Gene PubMed Count',NULL,8334,NULL,NULL,NULL,83,NULL,NULL,NULL),(30554,'NCBI Gene Summary',NULL,8335,NULL,'SLC25A35 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30555,'NCBI Gene PubMed Count',NULL,8335,NULL,NULL,NULL,6,NULL,NULL,NULL),(30556,'NCBI Gene Summary',NULL,8336,NULL,'This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(30557,'NCBI Gene PubMed Count',NULL,8336,NULL,NULL,NULL,19,NULL,NULL,NULL),(30558,'NCBI Gene PubMed Count',NULL,8337,NULL,NULL,NULL,3,NULL,NULL,NULL),(30559,'NCBI Gene Summary',NULL,8338,NULL,'Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(30560,'NCBI Gene PubMed Count',NULL,8338,NULL,NULL,NULL,158,NULL,NULL,NULL),(30561,'NCBI Gene Summary',NULL,8339,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is widely expressed in various types of tissues with a high expression level in thyroid gland. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, suggesting diverse functions in signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30562,'NCBI Gene PubMed Count',NULL,8339,NULL,NULL,NULL,35,NULL,NULL,NULL),(30563,'NCBI Gene PubMed Count',NULL,8340,NULL,NULL,NULL,4,NULL,NULL,NULL),(30564,'NCBI Gene PubMed Count',NULL,8341,NULL,NULL,NULL,13,NULL,NULL,NULL),(30565,'NCBI Gene PubMed Count',NULL,8342,NULL,NULL,NULL,6,NULL,NULL,NULL),(30566,'NCBI Gene Summary',NULL,8343,NULL,'The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(30567,'NCBI Gene PubMed Count',NULL,8343,NULL,NULL,NULL,24,NULL,NULL,NULL),(30568,'NCBI Gene Summary',NULL,8344,NULL,'SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30569,'NCBI Gene PubMed Count',NULL,8344,NULL,NULL,NULL,9,NULL,NULL,NULL),(30570,'NCBI Gene PubMed Count',NULL,8345,NULL,NULL,NULL,5,NULL,NULL,NULL),(30571,'NCBI Gene Summary',NULL,8346,NULL,'This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30572,'NCBI Gene PubMed Count',NULL,8346,NULL,NULL,NULL,24,NULL,NULL,NULL),(30573,'NCBI Gene Summary',NULL,8347,NULL,'The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(30574,'NCBI Gene PubMed Count',NULL,8347,NULL,NULL,NULL,11,NULL,NULL,NULL),(30575,'NCBI Gene Summary',NULL,8348,NULL,'The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30576,'NCBI Gene PubMed Count',NULL,8348,NULL,NULL,NULL,51,NULL,NULL,NULL),(30577,'NCBI Gene Summary',NULL,8349,NULL,'Sarcoplasmic reticulum Ca(2+)-ATPases are transmembrane proteins that catalyze the ATP-dependent transport of Ca(2+) from the cytosol into the lumen of the sarcoplasmic reticulum in muscle cells. This gene encodes a small proteolipid that regulates several sarcoplasmic reticulum Ca(2+)-ATPases. The transmembrane protein interacts with Ca(2+)-ATPases and reduces the accumulation of Ca(2+) in the sarcoplasmic reticulum without affecting the rate of ATP hydrolysis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30578,'NCBI Gene PubMed Count',NULL,8349,NULL,NULL,NULL,26,NULL,NULL,NULL),(30579,'NCBI Gene Summary',NULL,8350,NULL,'The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(30580,'NCBI Gene PubMed Count',NULL,8350,NULL,NULL,NULL,97,NULL,NULL,NULL),(30581,'NCBI Gene Summary',NULL,8351,NULL,'This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(30582,'NCBI Gene PubMed Count',NULL,8351,NULL,NULL,NULL,16,NULL,NULL,NULL),(30583,'NCBI Gene PubMed Count',NULL,8352,NULL,NULL,NULL,4,NULL,NULL,NULL),(30584,'NCBI Gene Summary',NULL,8353,NULL,'This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30585,'NCBI Gene PubMed Count',NULL,8353,NULL,NULL,NULL,81,NULL,NULL,NULL),(30586,'NCBI Gene Summary',NULL,8354,NULL,'This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30587,'NCBI Gene PubMed Count',NULL,8354,NULL,NULL,NULL,119,NULL,NULL,NULL),(30588,'NCBI Gene Summary',NULL,8355,NULL,'This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30589,'NCBI Gene PubMed Count',NULL,8355,NULL,NULL,NULL,10,NULL,NULL,NULL),(30590,'NCBI Gene PubMed Count',NULL,8356,NULL,NULL,NULL,6,NULL,NULL,NULL),(30591,'NCBI Gene Summary',NULL,8357,NULL,'Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(30592,'NCBI Gene PubMed Count',NULL,8357,NULL,NULL,NULL,6,NULL,NULL,NULL),(30593,'NCBI Gene Summary',NULL,8358,NULL,'This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3\' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(30594,'NCBI Gene PubMed Count',NULL,8358,NULL,NULL,NULL,778,NULL,NULL,NULL),(30595,'NCBI Gene Summary',NULL,8359,NULL,'This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30596,'NCBI Gene PubMed Count',NULL,8359,NULL,NULL,NULL,221,NULL,NULL,NULL),(30597,'NCBI Gene Summary',NULL,8360,NULL,'The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(30598,'NCBI Gene PubMed Count',NULL,8360,NULL,NULL,NULL,14,NULL,NULL,NULL),(30599,'NCBI Gene Summary',NULL,8361,NULL,'SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(30600,'NCBI Gene PubMed Count',NULL,8361,NULL,NULL,NULL,36,NULL,NULL,NULL),(30601,'NCBI Gene Summary',NULL,8362,NULL,'The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(30602,'NCBI Gene PubMed Count',NULL,8362,NULL,NULL,NULL,18,NULL,NULL,NULL),(30603,'NCBI Gene Summary',NULL,8363,NULL,'The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30604,'NCBI Gene PubMed Count',NULL,8363,NULL,NULL,NULL,567,NULL,NULL,NULL),(30605,'NCBI Gene Summary',NULL,8364,NULL,'The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(30606,'NCBI Gene PubMed Count',NULL,8364,NULL,NULL,NULL,63,NULL,NULL,NULL),(30607,'NCBI Gene PubMed Count',NULL,8365,NULL,NULL,NULL,15,NULL,NULL,NULL),(30608,'NCBI Gene PubMed Count',NULL,8366,NULL,NULL,NULL,14,NULL,NULL,NULL),(30609,'NCBI Gene Summary',NULL,8367,NULL,'This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(30610,'NCBI Gene PubMed Count',NULL,8367,NULL,NULL,NULL,90,NULL,NULL,NULL),(30611,'NCBI Gene Summary',NULL,8368,NULL,'This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30612,'NCBI Gene PubMed Count',NULL,8368,NULL,NULL,NULL,9,NULL,NULL,NULL),(30613,'NCBI Gene Summary',NULL,8369,NULL,'Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30614,'NCBI Gene PubMed Count',NULL,8369,NULL,NULL,NULL,31,NULL,NULL,NULL),(30615,'NCBI Gene PubMed Count',NULL,8370,NULL,NULL,NULL,5,NULL,NULL,NULL),(30616,'NCBI Gene Summary',NULL,8371,NULL,'The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(30617,'NCBI Gene PubMed Count',NULL,8371,NULL,NULL,NULL,81,NULL,NULL,NULL),(30618,'NCBI Gene Summary',NULL,8372,NULL,'The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(30619,'NCBI Gene PubMed Count',NULL,8372,NULL,NULL,NULL,13,NULL,NULL,NULL),(30620,'NCBI Gene Summary',NULL,8373,NULL,'This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30621,'NCBI Gene PubMed Count',NULL,8373,NULL,NULL,NULL,66,NULL,NULL,NULL),(30622,'NCBI Gene Summary',NULL,8374,NULL,'This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(30623,'NCBI Gene PubMed Count',NULL,8374,NULL,NULL,NULL,47,NULL,NULL,NULL),(30624,'NCBI Gene PubMed Count',NULL,8375,NULL,NULL,NULL,6,NULL,NULL,NULL),(30625,'NCBI Gene PubMed Count',NULL,8376,NULL,NULL,NULL,21,NULL,NULL,NULL),(30626,'NCBI Gene PubMed Count',NULL,8377,NULL,NULL,NULL,2,NULL,NULL,NULL),(30627,'NCBI Gene Summary',NULL,8378,NULL,'Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(30628,'NCBI Gene PubMed Count',NULL,8378,NULL,NULL,NULL,4,NULL,NULL,NULL),(30629,'NCBI Gene Summary',NULL,8379,NULL,'The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(30630,'NCBI Gene PubMed Count',NULL,8379,NULL,NULL,NULL,75,NULL,NULL,NULL),(30631,'NCBI Gene Summary',NULL,8380,NULL,'This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter\'s syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30632,'NCBI Gene PubMed Count',NULL,8380,NULL,NULL,NULL,127,NULL,NULL,NULL),(30633,'NCBI Gene Summary',NULL,8381,NULL,'The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(30634,'NCBI Gene PubMed Count',NULL,8381,NULL,NULL,NULL,9,NULL,NULL,NULL),(30635,'NCBI Gene Summary',NULL,8382,NULL,'The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(30636,'NCBI Gene PubMed Count',NULL,8382,NULL,NULL,NULL,414,NULL,NULL,NULL),(30637,'NCBI Gene Summary',NULL,8383,NULL,'The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(30638,'NCBI Gene PubMed Count',NULL,8383,NULL,NULL,NULL,59,NULL,NULL,NULL),(30639,'NCBI Gene Summary',NULL,8384,NULL,'This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30640,'NCBI Gene PubMed Count',NULL,8384,NULL,NULL,NULL,42,NULL,NULL,NULL),(30641,'NCBI Gene Summary',NULL,8385,NULL,'This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(30642,'NCBI Gene PubMed Count',NULL,8385,NULL,NULL,NULL,16,NULL,NULL,NULL),(30643,'NCBI Gene Summary',NULL,8386,NULL,'SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30644,'NCBI Gene PubMed Count',NULL,8386,NULL,NULL,NULL,18,NULL,NULL,NULL),(30645,'NCBI Gene Summary',NULL,8387,NULL,'This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(30646,'NCBI Gene PubMed Count',NULL,8387,NULL,NULL,NULL,64,NULL,NULL,NULL),(30647,'NCBI Gene PubMed Count',NULL,8388,NULL,NULL,NULL,30,NULL,NULL,NULL),(30648,'NCBI Gene Summary',NULL,8389,NULL,'Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(30649,'NCBI Gene PubMed Count',NULL,8389,NULL,NULL,NULL,14,NULL,NULL,NULL),(30650,'NCBI Gene PubMed Count',NULL,8390,NULL,NULL,NULL,7,NULL,NULL,NULL),(30651,'NCBI Gene Summary',NULL,8391,NULL,'This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30652,'NCBI Gene PubMed Count',NULL,8391,NULL,NULL,NULL,50,NULL,NULL,NULL),(30653,'NCBI Gene Summary',NULL,8392,NULL,'This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(30654,'NCBI Gene PubMed Count',NULL,8392,NULL,NULL,NULL,19,NULL,NULL,NULL),(30655,'NCBI Gene PubMed Count',NULL,8393,NULL,NULL,NULL,5,NULL,NULL,NULL),(30656,'NCBI Gene Summary',NULL,8394,NULL,'This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30657,'NCBI Gene PubMed Count',NULL,8394,NULL,NULL,NULL,232,NULL,NULL,NULL),(30658,'NCBI Gene PubMed Count',NULL,8395,NULL,NULL,NULL,6,NULL,NULL,NULL),(30659,'NCBI Gene PubMed Count',NULL,8396,NULL,NULL,NULL,3,NULL,NULL,NULL),(30660,'NCBI Gene Summary',NULL,8397,NULL,'This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(30661,'NCBI Gene PubMed Count',NULL,8397,NULL,NULL,NULL,12,NULL,NULL,NULL),(30662,'NCBI Gene Summary',NULL,8398,NULL,'This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(30663,'NCBI Gene PubMed Count',NULL,8398,NULL,NULL,NULL,86,NULL,NULL,NULL),(30664,'NCBI Gene PubMed Count',NULL,8399,NULL,NULL,NULL,8,NULL,NULL,NULL),(30665,'NCBI Gene PubMed Count',NULL,8400,NULL,NULL,NULL,7,NULL,NULL,NULL),(30666,'NCBI Gene PubMed Count',NULL,8401,NULL,NULL,NULL,25,NULL,NULL,NULL),(30667,'NCBI Gene Summary',NULL,8402,NULL,'This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(30668,'NCBI Gene PubMed Count',NULL,8402,NULL,NULL,NULL,28,NULL,NULL,NULL),(30669,'NCBI Gene Summary',NULL,8403,NULL,'This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(30670,'NCBI Gene PubMed Count',NULL,8403,NULL,NULL,NULL,94,NULL,NULL,NULL),(30671,'NCBI Gene Summary',NULL,8404,NULL,'This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30672,'NCBI Gene PubMed Count',NULL,8404,NULL,NULL,NULL,34,NULL,NULL,NULL),(30673,'NCBI Gene PubMed Count',NULL,8405,NULL,NULL,NULL,8,NULL,NULL,NULL),(30674,'NCBI Gene Summary',NULL,8406,NULL,'The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(30675,'NCBI Gene PubMed Count',NULL,8406,NULL,NULL,NULL,38,NULL,NULL,NULL),(30676,'NCBI Gene PubMed Count',NULL,8407,NULL,NULL,NULL,4,NULL,NULL,NULL),(30677,'NCBI Gene Summary',NULL,8408,NULL,'The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(30678,'NCBI Gene PubMed Count',NULL,8408,NULL,NULL,NULL,13,NULL,NULL,NULL),(30679,'NCBI Gene Summary',NULL,8409,NULL,'This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(30680,'NCBI Gene PubMed Count',NULL,8409,NULL,NULL,NULL,26,NULL,NULL,NULL),(30681,'NCBI Gene Summary',NULL,8410,NULL,'The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. Related pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(30682,'NCBI Gene PubMed Count',NULL,8410,NULL,NULL,NULL,97,NULL,NULL,NULL),(30683,'NCBI Gene Summary',NULL,8411,NULL,'The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30684,'NCBI Gene PubMed Count',NULL,8411,NULL,NULL,NULL,11,NULL,NULL,NULL),(30685,'NCBI Gene Summary',NULL,8412,NULL,'This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(30686,'NCBI Gene PubMed Count',NULL,8412,NULL,NULL,NULL,15,NULL,NULL,NULL),(30687,'NCBI Gene Summary',NULL,8413,NULL,'The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(30688,'NCBI Gene PubMed Count',NULL,8413,NULL,NULL,NULL,42,NULL,NULL,NULL),(30689,'NCBI Gene Summary',NULL,8414,NULL,'This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(30690,'NCBI Gene PubMed Count',NULL,8414,NULL,NULL,NULL,13,NULL,NULL,NULL),(30691,'NCBI Gene Summary',NULL,8415,NULL,'This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(30692,'NCBI Gene PubMed Count',NULL,8415,NULL,NULL,NULL,81,NULL,NULL,NULL),(30693,'NCBI Gene PubMed Count',NULL,8416,NULL,NULL,NULL,2,NULL,NULL,NULL),(30694,'NCBI Gene Summary',NULL,8417,NULL,'The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(30695,'NCBI Gene PubMed Count',NULL,8417,NULL,NULL,NULL,37,NULL,NULL,NULL),(30696,'NCBI Gene Summary',NULL,8418,NULL,'This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing isoforms.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(30697,'NCBI Gene PubMed Count',NULL,8418,NULL,NULL,NULL,28,NULL,NULL,NULL),(30698,'NCBI Gene PubMed Count',NULL,8419,NULL,NULL,NULL,3,NULL,NULL,NULL),(30699,'NCBI Gene PubMed Count',NULL,8420,NULL,NULL,NULL,4,NULL,NULL,NULL),(30700,'NCBI Gene Summary',NULL,8421,NULL,'This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(30701,'NCBI Gene PubMed Count',NULL,8421,NULL,NULL,NULL,22,NULL,NULL,NULL),(30702,'NCBI Gene PubMed Count',NULL,8422,NULL,NULL,NULL,4,NULL,NULL,NULL),(30703,'NCBI Gene PubMed Count',NULL,8423,NULL,NULL,NULL,21,NULL,NULL,NULL),(30704,'NCBI Gene Summary',NULL,8424,NULL,'SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30705,'NCBI Gene PubMed Count',NULL,8424,NULL,NULL,NULL,19,NULL,NULL,NULL),(30706,'NCBI Gene Summary',NULL,8425,NULL,'Secretory carrier membrane proteins (SCAMPs) are widely distributed integral membrane proteins implicated in membrane trafficking. Most SCAMPs (e.g., SCAMP1; MIM 606911) have N-terminal cytoplasmic NPF (arg-pro-phe) repeats, 4 central transmembrane regions, and a short C-terminal cytoplasmic tail. These SCAMPs likely have a role in endocytosis that is mediated by their NPF repeats. Other SCAMPs, such as SCAMP4, lack the NPF repeats and are therefore unlikely to function in endocytosis (summary by Fernandez-Chacon and Sudhof, 2000 [PubMed 11050114]).[supplied by OMIM, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(30707,'NCBI Gene PubMed Count',NULL,8425,NULL,NULL,NULL,10,NULL,NULL,NULL),(30708,'NCBI Gene Summary',NULL,8426,NULL,'This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30709,'NCBI Gene PubMed Count',NULL,8426,NULL,NULL,NULL,23,NULL,NULL,NULL),(30710,'NCBI Gene PubMed Count',NULL,8427,NULL,NULL,NULL,33,NULL,NULL,NULL),(30711,'NCBI Gene PubMed Count',NULL,8428,NULL,NULL,NULL,15,NULL,NULL,NULL),(30712,'NCBI Gene PubMed Count',NULL,8429,NULL,NULL,NULL,14,NULL,NULL,NULL),(30713,'NCBI Gene PubMed Count',NULL,8430,NULL,NULL,NULL,9,NULL,NULL,NULL),(30714,'NCBI Gene Summary',NULL,8431,NULL,'The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30715,'NCBI Gene PubMed Count',NULL,8431,NULL,NULL,NULL,27,NULL,NULL,NULL),(30716,'NCBI Gene Summary',NULL,8432,NULL,'The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30717,'NCBI Gene PubMed Count',NULL,8432,NULL,NULL,NULL,47,NULL,NULL,NULL),(30718,'NCBI Gene Summary',NULL,8433,NULL,'The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal extension and has been shown to act as a tumor suppressor by inducing apoptosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(30719,'NCBI Gene PubMed Count',NULL,8433,NULL,NULL,NULL,41,NULL,NULL,NULL),(30720,'NCBI Gene Summary',NULL,8434,NULL,'This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(30721,'NCBI Gene PubMed Count',NULL,8434,NULL,NULL,NULL,43,NULL,NULL,NULL),(30722,'NCBI Gene Summary',NULL,8435,NULL,'The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(30723,'NCBI Gene PubMed Count',NULL,8435,NULL,NULL,NULL,26,NULL,NULL,NULL),(30724,'NCBI Gene Summary',NULL,8436,NULL,'This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(30725,'NCBI Gene PubMed Count',NULL,8436,NULL,NULL,NULL,45,NULL,NULL,NULL),(30726,'NCBI Gene Summary',NULL,8437,NULL,'This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(30727,'NCBI Gene PubMed Count',NULL,8437,NULL,NULL,NULL,23,NULL,NULL,NULL),(30728,'NCBI Gene PubMed Count',NULL,8438,NULL,NULL,NULL,11,NULL,NULL,NULL),(30729,'NCBI Gene Summary',NULL,8439,NULL,'This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(30730,'NCBI Gene PubMed Count',NULL,8439,NULL,NULL,NULL,16,NULL,NULL,NULL),(30731,'NCBI Gene Summary',NULL,8440,NULL,'This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(30732,'NCBI Gene PubMed Count',NULL,8440,NULL,NULL,NULL,20,NULL,NULL,NULL),(30733,'NCBI Gene Summary',NULL,8441,NULL,'This gene encodes calbindin D9K, a vitamin D-dependent calcium-binding protein. This cytosolic protein belongs to a family of calcium-binding proteins that includes calmodulin, parvalbumin, troponin C, and S100 protein. In the intestine, the protein is vitamin D-dependent and its expression correlates with calcium transport activity. The protein may increase Ca2+ absorption by buffering Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral membrane vesicles. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30734,'NCBI Gene PubMed Count',NULL,8441,NULL,NULL,NULL,15,NULL,NULL,NULL),(30735,'NCBI Gene PubMed Count',NULL,8442,NULL,NULL,NULL,8,NULL,NULL,NULL),(30736,'NCBI Gene Summary',NULL,8443,NULL,'This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(30737,'NCBI Gene PubMed Count',NULL,8443,NULL,NULL,NULL,22,NULL,NULL,NULL),(30738,'NCBI Gene Summary',NULL,8444,NULL,'This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30739,'NCBI Gene PubMed Count',NULL,8444,NULL,NULL,NULL,24,NULL,NULL,NULL),(30740,'NCBI Gene PubMed Count',NULL,8445,NULL,NULL,NULL,14,NULL,NULL,NULL),(30741,'NCBI Gene Summary',NULL,8446,NULL,'The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the gamma-subunit protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30742,'NCBI Gene PubMed Count',NULL,8446,NULL,NULL,NULL,17,NULL,NULL,NULL),(30743,'NCBI Gene PubMed Count',NULL,8447,NULL,NULL,NULL,22,NULL,NULL,NULL),(30744,'NCBI Gene Summary',NULL,8448,NULL,'The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(30745,'NCBI Gene PubMed Count',NULL,8448,NULL,NULL,NULL,40,NULL,NULL,NULL),(30746,'NCBI Gene Summary',NULL,8449,NULL,'This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, and depression-susceptibility in people experiencing emotional trauma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30747,'NCBI Gene PubMed Count',NULL,8449,NULL,NULL,NULL,2175,NULL,NULL,NULL),(30748,'NCBI Gene Summary',NULL,8450,NULL,'The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30749,'NCBI Gene PubMed Count',NULL,8450,NULL,NULL,NULL,28,NULL,NULL,NULL),(30750,'NCBI Gene Summary',NULL,8451,NULL,'The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(30751,'NCBI Gene PubMed Count',NULL,8451,NULL,NULL,NULL,23,NULL,NULL,NULL),(30752,'NCBI Gene PubMed Count',NULL,8452,NULL,NULL,NULL,3,NULL,NULL,NULL),(30753,'NCBI Gene PubMed Count',NULL,8456,NULL,NULL,NULL,17,NULL,NULL,NULL),(30754,'NCBI Gene PubMed Count',NULL,8457,NULL,NULL,NULL,16,NULL,NULL,NULL),(30755,'NCBI Gene Summary',NULL,8458,NULL,'Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(30756,'NCBI Gene PubMed Count',NULL,8458,NULL,NULL,NULL,44,NULL,NULL,NULL),(30757,'NCBI Gene Summary',NULL,8459,NULL,'This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(30758,'NCBI Gene PubMed Count',NULL,8459,NULL,NULL,NULL,141,NULL,NULL,NULL),(30759,'NCBI Gene Summary',NULL,8460,NULL,'The protein encoded by this gene catalyzes the transfer of a CoA group from succinate to acetoacetate and is an important enzyme in ketone body catabolism. The encoded protein localizes to the mitochondrion. This gene is intronless, and a pseudogene of this gene is located elsewhere on chromosome 1. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(30760,'NCBI Gene PubMed Count',NULL,8460,NULL,NULL,NULL,6,NULL,NULL,NULL),(30761,'NCBI Gene Summary',NULL,8461,NULL,'This gene encodes a protein that is required for DNA double-strand break repair, chromosome synapsis, and meiotic recombination in spermatocytes. Male mice with a knockout of the orthologous gene are viable but sterile. Loss-of-function mutations in the orthologous mouse gene cause early meiotic arrest in spermatocytes, before the mid-pachytene stage. Naturally occurring mutations in this gene are associated with nonobstructive azoospermia. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(30762,'NCBI Gene PubMed Count',NULL,8461,NULL,NULL,NULL,13,NULL,NULL,NULL),(30763,'NCBI Gene Summary',NULL,8462,NULL,'This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(30764,'NCBI Gene PubMed Count',NULL,8462,NULL,NULL,NULL,36,NULL,NULL,NULL),(30765,'NCBI Gene Summary',NULL,8463,NULL,'The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan that functions as a receptor in intracellular signaling. The encoded protein is found as a homodimer and is a member of the syndecan proteoglycan family. This gene is found on chromosome 20, while a pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30766,'NCBI Gene PubMed Count',NULL,8463,NULL,NULL,NULL,125,NULL,NULL,NULL),(30767,'NCBI Gene PubMed Count',NULL,8464,NULL,NULL,NULL,4,NULL,NULL,NULL),(30768,'NCBI Gene PubMed Count',NULL,8465,NULL,NULL,NULL,8,NULL,NULL,NULL),(30769,'NCBI Gene Summary',NULL,8466,NULL,'The protein encoded by this gene contains two class II PDZ domains. PDZ domains facilitate protein-protein interactions by binding to the cytoplasmic C-terminus of transmembrane proteins, and PDZ-containing proteins mediate cell signaling and the organization of protein complexes. The encoded protein binds to phosphatidylinositol 4, 5-bisphosphate (PIP2) and plays a role in nuclear PIP2 organization and cell division. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Read-through transcription also exists between this gene and the upstream FKBP1A (FK506 binding protein 1A, 12kDa) gene, as represented in GeneID:100528031. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(30770,'NCBI Gene PubMed Count',NULL,8466,NULL,NULL,NULL,24,NULL,NULL,NULL),(30771,'NCBI Gene Summary',NULL,8467,NULL,'This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(30772,'NCBI Gene PubMed Count',NULL,8467,NULL,NULL,NULL,34,NULL,NULL,NULL),(30773,'NCBI Gene PubMed Count',NULL,8468,NULL,NULL,NULL,8,NULL,NULL,NULL),(30774,'NCBI Gene Summary',NULL,8469,NULL,'The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(30775,'NCBI Gene PubMed Count',NULL,8469,NULL,NULL,NULL,25,NULL,NULL,NULL),(30776,'NCBI Gene Summary',NULL,8470,NULL,'This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(30777,'NCBI Gene PubMed Count',NULL,8470,NULL,NULL,NULL,24,NULL,NULL,NULL),(30778,'NCBI Gene Summary',NULL,8471,NULL,'This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(30779,'NCBI Gene PubMed Count',NULL,8471,NULL,NULL,NULL,6,NULL,NULL,NULL),(30780,'NCBI Gene Summary',NULL,8472,NULL,'This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(30781,'NCBI Gene PubMed Count',NULL,8472,NULL,NULL,NULL,100,NULL,NULL,NULL),(30782,'NCBI Gene Summary',NULL,8473,NULL,'This gene encodes a protein containing a tudor domain that is thought to function in the suppression of transposable elements during spermatogenesis. The related protein in mouse forms a complex with piRNAs and Piwi proteins to promote methylation and silencing of target sequences. This gene was observed to be upregulated by ETS transcription factor ERG in prostate tumors. [provided by RefSeq, Sep 2018]',NULL,NULL,NULL,NULL,NULL),(30783,'NCBI Gene PubMed Count',NULL,8473,NULL,NULL,NULL,15,NULL,NULL,NULL),(30784,'NCBI Gene Summary',NULL,8474,NULL,'This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(30785,'NCBI Gene PubMed Count',NULL,8474,NULL,NULL,NULL,16,NULL,NULL,NULL),(30786,'NCBI Gene PubMed Count',NULL,8475,NULL,NULL,NULL,8,NULL,NULL,NULL),(30787,'NCBI Gene Summary',NULL,8476,NULL,'This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30788,'NCBI Gene PubMed Count',NULL,8476,NULL,NULL,NULL,20,NULL,NULL,NULL),(30789,'NCBI Gene PubMed Count',NULL,8477,NULL,NULL,NULL,24,NULL,NULL,NULL),(30790,'NCBI Gene Summary',NULL,8478,NULL,'This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(30791,'NCBI Gene PubMed Count',NULL,8478,NULL,NULL,NULL,30,NULL,NULL,NULL),(30792,'NCBI Gene Summary',NULL,8479,NULL,'Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30793,'NCBI Gene PubMed Count',NULL,8479,NULL,NULL,NULL,123,NULL,NULL,NULL),(30794,'NCBI Gene Summary',NULL,8480,NULL,'This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(30795,'NCBI Gene PubMed Count',NULL,8480,NULL,NULL,NULL,12,NULL,NULL,NULL),(30796,'NCBI Gene Summary',NULL,8481,NULL,'Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5\' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(30797,'NCBI Gene PubMed Count',NULL,8481,NULL,NULL,NULL,303,NULL,NULL,NULL),(30798,'NCBI Gene PubMed Count',NULL,8482,NULL,NULL,NULL,34,NULL,NULL,NULL),(30799,'NCBI Gene Summary',NULL,8483,NULL,'This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(30800,'NCBI Gene PubMed Count',NULL,8483,NULL,NULL,NULL,59,NULL,NULL,NULL),(30801,'NCBI Gene Summary',NULL,8484,NULL,'Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30802,'NCBI Gene PubMed Count',NULL,8484,NULL,NULL,NULL,39,NULL,NULL,NULL),(30803,'NCBI Gene Summary',NULL,8485,NULL,'Antibodies against the protein encoded by this gene were found only in plasma from cancer patients. While it may be a target for immunotherapy, the function of this gene is unknown. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(30804,'NCBI Gene PubMed Count',NULL,8485,NULL,NULL,NULL,9,NULL,NULL,NULL),(30805,'NCBI Gene PubMed Count',NULL,8486,NULL,NULL,NULL,9,NULL,NULL,NULL),(30806,'NCBI Gene Summary',NULL,8487,NULL,'This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30807,'NCBI Gene PubMed Count',NULL,8487,NULL,NULL,NULL,35,NULL,NULL,NULL),(30808,'NCBI Gene Summary',NULL,8488,NULL,'The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-1 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-1 expression has been detected in several different tumor types. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30809,'NCBI Gene PubMed Count',NULL,8488,NULL,NULL,NULL,303,NULL,NULL,NULL),(30810,'NCBI Gene Summary',NULL,8489,NULL,'This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(30811,'NCBI Gene PubMed Count',NULL,8489,NULL,NULL,NULL,1194,NULL,NULL,NULL),(30812,'NCBI Gene Summary',NULL,8490,NULL,'Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30813,'NCBI Gene PubMed Count',NULL,8490,NULL,NULL,NULL,5,NULL,NULL,NULL),(30814,'NCBI Gene Summary',NULL,8491,NULL,'The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30815,'NCBI Gene PubMed Count',NULL,8491,NULL,NULL,NULL,24,NULL,NULL,NULL),(30816,'NCBI Gene Summary',NULL,8492,NULL,'This gene encodes a nucleolar protein, which belongs to the SelWTH family. It functions as an oxidoreductase, and has been shown to protect neurons against UVB-induced damage by inhibiting apoptotic cell death pathways, promote mitochondrial biogenesis and mitochondrial function, and suppress cellular senescence through genome maintenance and redox regulation. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(30817,'NCBI Gene PubMed Count',NULL,8492,NULL,NULL,NULL,16,NULL,NULL,NULL),(30818,'NCBI Gene Summary',NULL,8493,NULL,'This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The exact function of this selenoprotein is not known, but it is thought to have redox activity. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(30819,'NCBI Gene PubMed Count',NULL,8493,NULL,NULL,NULL,10,NULL,NULL,NULL),(30820,'NCBI Gene Summary',NULL,8494,NULL,'Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30821,'NCBI Gene PubMed Count',NULL,8494,NULL,NULL,NULL,15,NULL,NULL,NULL),(30822,'NCBI Gene Summary',NULL,8495,NULL,'The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcription of this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30823,'NCBI Gene PubMed Count',NULL,8495,NULL,NULL,NULL,14,NULL,NULL,NULL),(30824,'NCBI Gene Summary',NULL,8496,NULL,'This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30825,'NCBI Gene PubMed Count',NULL,8496,NULL,NULL,NULL,35,NULL,NULL,NULL),(30826,'NCBI Gene PubMed Count',NULL,8497,NULL,NULL,NULL,18,NULL,NULL,NULL),(30827,'NCBI Gene Summary',NULL,8498,NULL,'SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30828,'NCBI Gene PubMed Count',NULL,8498,NULL,NULL,NULL,18,NULL,NULL,NULL),(30829,'NCBI Gene Summary',NULL,8499,NULL,'This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(30830,'NCBI Gene PubMed Count',NULL,8499,NULL,NULL,NULL,45,NULL,NULL,NULL),(30831,'NCBI Gene PubMed Count',NULL,8500,NULL,NULL,NULL,2,NULL,NULL,NULL),(30832,'NCBI Gene Summary',NULL,8501,NULL,'The protein encoded by this gene transports zinc from the Golgi and endoplasmic reticulum to the cytoplasm. This transport may be important for activation of tyrosine kinases, some of which could be involved in cancer progression. Therefore, modulation of the encoded protein could be useful as a therapeutic agent against cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(30833,'NCBI Gene PubMed Count',NULL,8501,NULL,NULL,NULL,29,NULL,NULL,NULL),(30834,'NCBI Gene Summary',NULL,8502,NULL,'This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(30835,'NCBI Gene PubMed Count',NULL,8502,NULL,NULL,NULL,36,NULL,NULL,NULL),(30836,'NCBI Gene Summary',NULL,8503,NULL,'This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(30837,'NCBI Gene PubMed Count',NULL,8503,NULL,NULL,NULL,37,NULL,NULL,NULL),(30838,'NCBI Gene PubMed Count',NULL,8504,NULL,NULL,NULL,6,NULL,NULL,NULL),(30839,'NCBI Gene PubMed Count',NULL,8505,NULL,NULL,NULL,9,NULL,NULL,NULL),(30840,'NCBI Gene PubMed Count',NULL,8506,NULL,NULL,NULL,16,NULL,NULL,NULL),(30841,'NCBI Gene Summary',NULL,8507,NULL,'The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(30842,'NCBI Gene PubMed Count',NULL,8507,NULL,NULL,NULL,63,NULL,NULL,NULL),(30843,'NCBI Gene Summary',NULL,8508,NULL,'The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30844,'NCBI Gene PubMed Count',NULL,8508,NULL,NULL,NULL,14,NULL,NULL,NULL),(30845,'NCBI Gene PubMed Count',NULL,8509,NULL,NULL,NULL,1,NULL,NULL,NULL),(30846,'NCBI Gene PubMed Count',NULL,8510,NULL,NULL,NULL,23,NULL,NULL,NULL),(30847,'NCBI Gene Summary',NULL,8511,NULL,'The protein encoded by this gene belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(30848,'NCBI Gene PubMed Count',NULL,8511,NULL,NULL,NULL,14,NULL,NULL,NULL),(30849,'NCBI Gene PubMed Count',NULL,8512,NULL,NULL,NULL,13,NULL,NULL,NULL),(30850,'NCBI Gene Summary',NULL,8513,NULL,'Scrapie-responsive gene 1 is associated with neurodegenerative changes observed in transmissible spongiform encephalopathies. It may play a role in host response to prion-associated infections. The scrapie responsive protein 1 may be partly included in the membrane or secreted by the cells due to its hydrophobic N-terminus. In addition, the encoded protein can interact with bone marrow stromal cell antigen 1 (BST1) to enhance the differentiation potentials of human mesenchymal stem cells during tissue and bone regeneration. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(30851,'NCBI Gene PubMed Count',NULL,8513,NULL,NULL,NULL,9,NULL,NULL,NULL),(30852,'NCBI Gene Summary',NULL,8514,NULL,'This gene encodes a C2H2-type zinc finger transcriptional repressor that binds to E-box motifs. The encoded protein may promote neural differention and may be involved in cancers with neuroendocrine features. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(30853,'NCBI Gene PubMed Count',NULL,8514,NULL,NULL,NULL,9,NULL,NULL,NULL),(30854,'NCBI Gene PubMed Count',NULL,8515,NULL,NULL,NULL,5,NULL,NULL,NULL),(30855,'NCBI Gene PubMed Count',NULL,8516,NULL,NULL,NULL,15,NULL,NULL,NULL),(30856,'NCBI Gene PubMed Count',NULL,8517,NULL,NULL,NULL,8,NULL,NULL,NULL),(30857,'NCBI Gene PubMed Count',NULL,8518,NULL,NULL,NULL,90,NULL,NULL,NULL),(30858,'NCBI Gene Summary',NULL,8519,NULL,'Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30859,'NCBI Gene PubMed Count',NULL,8519,NULL,NULL,NULL,195,NULL,NULL,NULL),(30860,'NCBI Gene PubMed Count',NULL,8520,NULL,NULL,NULL,14,NULL,NULL,NULL),(30861,'NCBI Gene Summary',NULL,8521,NULL,'This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30862,'NCBI Gene PubMed Count',NULL,8521,NULL,NULL,NULL,10,NULL,NULL,NULL),(30863,'NCBI Gene Summary',NULL,8522,NULL,'The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(30864,'NCBI Gene PubMed Count',NULL,8522,NULL,NULL,NULL,18,NULL,NULL,NULL),(30865,'NCBI Gene PubMed Count',NULL,8523,NULL,NULL,NULL,93,NULL,NULL,NULL),(30866,'NCBI Gene Summary',NULL,8524,NULL,'The protein encoded by this gene belongs to the selenoprotein M/SEP15 family. The exact function of this protein is not known. It is localized in the perinuclear region, is highly expressed in the brain, and may be involved in neurodegenerative disorders. Transgenic mice with targeted deletion of this gene exhibit increased weight gain, suggesting a role for this gene in the regulation of body weight and energy metabolism. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(30867,'NCBI Gene PubMed Count',NULL,8524,NULL,NULL,NULL,9,NULL,NULL,NULL),(30868,'NCBI Gene Summary',NULL,8525,NULL,'This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(30869,'NCBI Gene PubMed Count',NULL,8525,NULL,NULL,NULL,23,NULL,NULL,NULL),(30870,'NCBI Gene Summary',NULL,8526,NULL,'This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(30871,'NCBI Gene PubMed Count',NULL,8526,NULL,NULL,NULL,22,NULL,NULL,NULL),(30872,'NCBI Gene PubMed Count',NULL,8527,NULL,NULL,NULL,20,NULL,NULL,NULL),(30873,'NCBI Gene PubMed Count',NULL,8528,NULL,NULL,NULL,8,NULL,NULL,NULL),(30874,'NCBI Gene Summary',NULL,8529,NULL,'This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(30875,'NCBI Gene PubMed Count',NULL,8529,NULL,NULL,NULL,53,NULL,NULL,NULL),(30876,'NCBI Gene PubMed Count',NULL,8530,NULL,NULL,NULL,3,NULL,NULL,NULL),(30877,'NCBI Gene PubMed Count',NULL,8531,NULL,NULL,NULL,11,NULL,NULL,NULL),(30878,'NCBI Gene Summary',NULL,8532,NULL,'This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron\'s branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30879,'NCBI Gene PubMed Count',NULL,8532,NULL,NULL,NULL,37,NULL,NULL,NULL),(30880,'NCBI Gene Summary',NULL,8533,NULL,'SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(30881,'NCBI Gene PubMed Count',NULL,8533,NULL,NULL,NULL,7,NULL,NULL,NULL),(30882,'NCBI Gene PubMed Count',NULL,8534,NULL,NULL,NULL,4,NULL,NULL,NULL),(30883,'NCBI Gene Summary',NULL,8535,NULL,'This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(30884,'NCBI Gene PubMed Count',NULL,8535,NULL,NULL,NULL,334,NULL,NULL,NULL),(30885,'NCBI Gene PubMed Count',NULL,8536,NULL,NULL,NULL,20,NULL,NULL,NULL),(30886,'NCBI Gene Summary',NULL,8537,NULL,'Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(30887,'NCBI Gene PubMed Count',NULL,8537,NULL,NULL,NULL,16,NULL,NULL,NULL),(30888,'NCBI Gene Summary',NULL,8538,NULL,'The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in the cytoplasm and part of the chromatin scaffold in the nucleus. In addition, this protein is a target of the human papillomavirus type 16 E7 oncoprotein. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(30889,'NCBI Gene PubMed Count',NULL,8538,NULL,NULL,NULL,21,NULL,NULL,NULL),(30890,'NCBI Gene Summary',NULL,8539,NULL,'HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30891,'NCBI Gene PubMed Count',NULL,8539,NULL,NULL,NULL,17,NULL,NULL,NULL),(30892,'NCBI Gene PubMed Count',NULL,8540,NULL,NULL,NULL,2,NULL,NULL,NULL),(30893,'NCBI Gene PubMed Count',NULL,8541,NULL,NULL,NULL,30,NULL,NULL,NULL),(30894,'NCBI Gene PubMed Count',NULL,8542,NULL,NULL,NULL,4,NULL,NULL,NULL),(30895,'NCBI Gene Summary',NULL,8543,NULL,'The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(30896,'NCBI Gene PubMed Count',NULL,8543,NULL,NULL,NULL,200,NULL,NULL,NULL),(30897,'NCBI Gene Summary',NULL,8544,NULL,'This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase signaling and vesicle trafficking. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(30898,'NCBI Gene PubMed Count',NULL,8544,NULL,NULL,NULL,5,NULL,NULL,NULL),(30899,'NCBI Gene Summary',NULL,8545,NULL,'This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(30900,'NCBI Gene PubMed Count',NULL,8545,NULL,NULL,NULL,140,NULL,NULL,NULL),(30901,'NCBI Gene Summary',NULL,8546,NULL,'This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(30902,'NCBI Gene PubMed Count',NULL,8546,NULL,NULL,NULL,24,NULL,NULL,NULL),(30903,'NCBI Gene Summary',NULL,8547,NULL,'This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(30904,'NCBI Gene PubMed Count',NULL,8547,NULL,NULL,NULL,19,NULL,NULL,NULL),(30905,'NCBI Gene Summary',NULL,8548,NULL,'This locus represents naturally occurring read-through transcription between the neighboring transmembrane emp24 protein transport domain containing 7 (TMED7) and toll-like receptor adaptor molecule 2 (TICAM2) genes. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with the products of each individual gene. This fusion product functions to negatively regulate the adaptor MyD88-independent toll-like receptor 4 pathway. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(30906,'NCBI Gene PubMed Count',NULL,8548,NULL,NULL,NULL,5,NULL,NULL,NULL),(30907,'NCBI Gene PubMed Count',NULL,8549,NULL,NULL,NULL,20,NULL,NULL,NULL),(30908,'NCBI Gene PubMed Count',NULL,8550,NULL,NULL,NULL,5,NULL,NULL,NULL),(30909,'NCBI Gene Summary',NULL,8551,NULL,'This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30910,'NCBI Gene PubMed Count',NULL,8551,NULL,NULL,NULL,16,NULL,NULL,NULL),(30911,'NCBI Gene Summary',NULL,8552,NULL,'This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30912,'NCBI Gene PubMed Count',NULL,8552,NULL,NULL,NULL,17,NULL,NULL,NULL),(30913,'NCBI Gene Summary',NULL,8553,NULL,'This gene encodes a member of the taste receptor two family of class C G-protein coupled receptors. Receptors of this family have a short extracellular N-terminus, seven transmembrane helices, three extracellular loops and three intracellular loops, and an intracellular C-terminus. Members of this family are expressed in a subset of taste receptor cells, where they function in bitter taste reception, as well as in non-gustatory cells including those of the brain, reproductive organs, respiratory system, and gastrointestinal system. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(30914,'NCBI Gene PubMed Count',NULL,8553,NULL,NULL,NULL,12,NULL,NULL,NULL),(30915,'NCBI Gene Summary',NULL,8554,NULL,'This gene encodes a seven-transmembrane G protein-coupled receptor that controls the ability to taste glucosinolates, a family of bitter-tasting compounds found in plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as ligands for this receptor and have been used to test the genetic diversity of this gene. Although several allelic forms of this gene have been identified worldwide, there are two predominant common forms (taster and non-taster) found outside of Africa. These alleles differ at three nucleotide positions resulting in amino acid changes in the protein (A49P, A262V, and V296I) with the amino acid combination PAV identifying the taster variant (and AVI identifying the non-taster variant). [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(30916,'NCBI Gene PubMed Count',NULL,8554,NULL,NULL,NULL,103,NULL,NULL,NULL),(30917,'NCBI Gene Summary',NULL,8555,NULL,'The protein encoded by this gene is a bitter taste receptor that detects green tea catechins, soy isoflavones, and theaflavins. The encoded protein is gustducin-linked and may activate alpha gustducin. This gene is intronless. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(30918,'NCBI Gene PubMed Count',NULL,8555,NULL,NULL,NULL,13,NULL,NULL,NULL),(30919,'NCBI Gene Summary',NULL,8556,NULL,'This gene encodes a member of the bitter taste receptor family which belong to the G protein-coupled receptor superfamily and are predominantly expressed in taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a seven-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered together with eight other taste receptor genes on chromosome 7. A decrease in the expression of this gene is associated with hypogeusia. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(30920,'NCBI Gene PubMed Count',NULL,8556,NULL,NULL,NULL,14,NULL,NULL,NULL),(30921,'NCBI Gene Summary',NULL,8557,NULL,'This gene encodes a member of the bitter taste receptor family which belong to the G protein-coupled receptor superfamily and are predominantly expressed in taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a seven-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered together with eight other taste receptor genes on chromosome 7. Chloramphenicol is an agonist for the encoded protein. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(30922,'NCBI Gene PubMed Count',NULL,8557,NULL,NULL,NULL,11,NULL,NULL,NULL),(30923,'NCBI Gene Summary',NULL,8558,NULL,'TAS2R43 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(30924,'NCBI Gene PubMed Count',NULL,8558,NULL,NULL,NULL,21,NULL,NULL,NULL),(30925,'NCBI Gene PubMed Count',NULL,8559,NULL,NULL,NULL,8,NULL,NULL,NULL),(30926,'NCBI Gene PubMed Count',NULL,8560,NULL,NULL,NULL,7,NULL,NULL,NULL),(30927,'NCBI Gene Summary',NULL,8561,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30928,'NCBI Gene PubMed Count',NULL,8561,NULL,NULL,NULL,37,NULL,NULL,NULL),(30929,'NCBI Gene Summary',NULL,8562,NULL,'The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(30930,'NCBI Gene PubMed Count',NULL,8562,NULL,NULL,NULL,13,NULL,NULL,NULL),(30931,'NCBI Gene Summary',NULL,8563,NULL,'This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30932,'NCBI Gene PubMed Count',NULL,8563,NULL,NULL,NULL,23,NULL,NULL,NULL),(30933,'NCBI Gene Summary',NULL,8564,NULL,'This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is mapped to chromosome 5p15, the location of a genetic locus (PROP) that controls the detection of the bitter compound 6-n-propyl-2-thiouracil. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30934,'NCBI Gene PubMed Count',NULL,8564,NULL,NULL,NULL,22,NULL,NULL,NULL),(30935,'NCBI Gene Summary',NULL,8565,NULL,'This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30936,'NCBI Gene PubMed Count',NULL,8565,NULL,NULL,NULL,16,NULL,NULL,NULL),(30937,'NCBI Gene Summary',NULL,8566,NULL,'The protein encoded by this gene is a G-protein coupled receptor activated by trace amines. The encoded protein responds little or not at all to dopamine, serotonin, epinephrine, or histamine, but responds well to beta-phenylethylamine, p-tyramine, octopamine, and tryptamine. While primarily functioning in neurologic systems, there is evidence that this gene is involved in blood cell and immunologic functions as well. This gene is thought to be intronless. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(30938,'NCBI Gene PubMed Count',NULL,8566,NULL,NULL,NULL,26,NULL,NULL,NULL),(30939,'NCBI Gene PubMed Count',NULL,8567,NULL,NULL,NULL,11,NULL,NULL,NULL),(30940,'NCBI Gene Summary',NULL,8568,NULL,'This gene is part of the trace amine receptor cluster on chromosome 6 and encodes an orphan G-protein coupled receptor. Upregulated expression of this gene in astroglial cells upon exposure to lipopolysaccharides suggests a function for the encoded protein in the brain. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(30941,'NCBI Gene PubMed Count',NULL,8568,NULL,NULL,NULL,11,NULL,NULL,NULL),(30942,'NCBI Gene Summary',NULL,8569,NULL,'TAAR9 is a member of a large family of rhodopsin G protein-coupled receptors (GPCRs, or GPRs). GPCRs contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Jul 2005]',NULL,NULL,NULL,NULL,NULL),(30943,'NCBI Gene PubMed Count',NULL,8569,NULL,NULL,NULL,8,NULL,NULL,NULL),(30944,'NCBI Gene Summary',NULL,8570,NULL,'The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30945,'NCBI Gene PubMed Count',NULL,8570,NULL,NULL,NULL,34,NULL,NULL,NULL),(30946,'NCBI Gene Summary',NULL,8571,NULL,'Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(30947,'NCBI Gene PubMed Count',NULL,8571,NULL,NULL,NULL,25,NULL,NULL,NULL),(30948,'NCBI Gene Summary',NULL,8572,NULL,'TADA2B functions as a transcriptional adaptor protein that potentiates transcription through coordination of histone acetyltransferase (HAT) activity and by linking activation factors to basal transcriptional machinery (Barlev et al., 2003 [PubMed 12972612]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(30949,'NCBI Gene PubMed Count',NULL,8572,NULL,NULL,NULL,9,NULL,NULL,NULL),(30950,'NCBI Gene Summary',NULL,8573,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can form a complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30951,'NCBI Gene PubMed Count',NULL,8573,NULL,NULL,NULL,20,NULL,NULL,NULL),(30952,'NCBI Gene Summary',NULL,8574,NULL,'This gene encodes one of the proteins of the highly conserved urothelium-specific integral membrane proteins of the asymmetric unit membrane which forms urothelium apical plaques in mammals. The asymmetric unit membrane is believed to strengthen the urothelium by preventing cell rupture during bladder distention. The encoded protein is expressed in the peripheral blood of bladder cancer patients with transitional cell carcinomas.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(30953,'NCBI Gene PubMed Count',NULL,8574,NULL,NULL,NULL,26,NULL,NULL,NULL),(30954,'NCBI Gene Summary',NULL,8575,NULL,'DNA-binding transcriptional activator proteins increase the rate of transcription by interacting with the transcriptional machinery bound to the basal promoter in conjunction with adaptor proteins, possibly by acetylation and destabilization of nucleosomes. The protein encoded by this gene is a transcriptional activator adaptor and a component of the histone acetyl transferase (HAT) coactivator complex which plays a crucial role in chromatin modulation and cell cycle progression. Along with the other components of the complex, this protein links transcriptional activators bound to specific promoters, to histone acetylation and the transcriptional machinery. The protein is also involved in the stabilization and activation of the p53 tumor suppressor protein that plays a role in the cellular response to DNA damage. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(30955,'NCBI Gene PubMed Count',NULL,8575,NULL,NULL,NULL,50,NULL,NULL,NULL),(30956,'NCBI Gene Summary',NULL,8576,NULL,'Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(30957,'NCBI Gene PubMed Count',NULL,8576,NULL,NULL,NULL,33,NULL,NULL,NULL),(30958,'NCBI Gene Summary',NULL,8577,NULL,'Control of transcription by RNA polymerase II involves the basal transcription machinery which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes which are modulated by transactivator proteins that bind to cis-regulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridging proteins linking transactivators to the basal transcription factors. Some of these associated factors are weakly attached while others are tightly associated with TBP in the TFIID complex. Among the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(30959,'NCBI Gene PubMed Count',NULL,8577,NULL,NULL,NULL,46,NULL,NULL,NULL),(30960,'NCBI Gene Summary',NULL,8578,NULL,'Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(30961,'NCBI Gene PubMed Count',NULL,8578,NULL,NULL,NULL,138,NULL,NULL,NULL),(30962,'NCBI Gene Summary',NULL,8579,NULL,'This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(30963,'NCBI Gene PubMed Count',NULL,8579,NULL,NULL,NULL,19,NULL,NULL,NULL),(30964,'NCBI Gene Summary',NULL,8580,NULL,'Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(30965,'NCBI Gene PubMed Count',NULL,8580,NULL,NULL,NULL,50,NULL,NULL,NULL),(30966,'NCBI Gene Summary',NULL,8581,NULL,'TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(30967,'NCBI Gene PubMed Count',NULL,8581,NULL,NULL,NULL,24,NULL,NULL,NULL),(30968,'NCBI Gene PubMed Count',NULL,8582,NULL,NULL,NULL,13,NULL,NULL,NULL),(30969,'NCBI Gene PubMed Count',NULL,8583,NULL,NULL,NULL,7,NULL,NULL,NULL),(30970,'NCBI Gene PubMed Count',NULL,8584,NULL,NULL,NULL,14,NULL,NULL,NULL),(30971,'NCBI Gene Summary',NULL,8585,NULL,'This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by AKT is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(30972,'NCBI Gene PubMed Count',NULL,8585,NULL,NULL,NULL,46,NULL,NULL,NULL),(30973,'NCBI Gene PubMed Count',NULL,8586,NULL,NULL,NULL,13,NULL,NULL,NULL),(30974,'NCBI Gene Summary',NULL,8587,NULL,'This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(30975,'NCBI Gene PubMed Count',NULL,8587,NULL,NULL,NULL,77,NULL,NULL,NULL),(30976,'NCBI Gene Summary',NULL,8588,NULL,'This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(30977,'NCBI Gene PubMed Count',NULL,8588,NULL,NULL,NULL,7,NULL,NULL,NULL),(30978,'NCBI Gene Summary',NULL,8589,NULL,'This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(30979,'NCBI Gene PubMed Count',NULL,8589,NULL,NULL,NULL,11,NULL,NULL,NULL),(30980,'NCBI Gene PubMed Count',NULL,8590,NULL,NULL,NULL,14,NULL,NULL,NULL),(30981,'NCBI Gene Summary',NULL,8591,NULL,'The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018]',NULL,NULL,NULL,NULL,NULL),(30982,'NCBI Gene PubMed Count',NULL,8591,NULL,NULL,NULL,76,NULL,NULL,NULL),(30983,'NCBI Gene Summary',NULL,8592,NULL,'This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(30984,'NCBI Gene PubMed Count',NULL,8592,NULL,NULL,NULL,11,NULL,NULL,NULL),(30985,'NCBI Gene Summary',NULL,8593,NULL,'This gene encodes a member of a group of proteins similar to ubiquitin. The encoded protein is not thought to degrade proteins like ubiquitin but to affect their function through being bound to target proteins by an isopeptide bond. The gene product has been studied as a link to predisposition to obesity based on its expression in Psammomys obesus, the fat sand rat, which is an animal model for obesity studies. Variation in this gene was found to be significantly associated with some metabolic traits (PMID: 15331561) but not associated with childhood obesity (PMID: 19189687). Pseudogenes of this gene are located on chromosomes 3, 5 and 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(30986,'NCBI Gene PubMed Count',NULL,8593,NULL,NULL,NULL,21,NULL,NULL,NULL),(30987,'NCBI Gene Summary',NULL,8594,NULL,'This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(30988,'NCBI Gene PubMed Count',NULL,8594,NULL,NULL,NULL,62,NULL,NULL,NULL),(30989,'NCBI Gene Summary',NULL,8595,NULL,'This gene encodes a member of the synaptotagmin protein family. Synaptotagmins are membrane proteins that are important in neurotransmission and hormone secretion, both of which involve regulated exocytosis. Expression of the encoded protein in human pancreatic islets has been connected to activity of the promoter for the insulin gene, on the same chromosome several hundred kilobases away (PMID: 21336277 and 22928559). This association would link response to gluclose to insulin secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(30990,'NCBI Gene PubMed Count',NULL,8595,NULL,NULL,NULL,14,NULL,NULL,NULL),(30991,'NCBI Gene PubMed Count',NULL,8596,NULL,NULL,NULL,18,NULL,NULL,NULL),(30992,'NCBI Gene PubMed Count',NULL,8597,NULL,NULL,NULL,18,NULL,NULL,NULL),(30993,'NCBI Gene PubMed Count',NULL,8598,NULL,NULL,NULL,19,NULL,NULL,NULL),(30994,'NCBI Gene Summary',NULL,8599,NULL,'The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phosphatase regulated by calcium and calmodulin. Genes encoding similar proteins are located on chromosomes 16 and 22. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(30995,'NCBI Gene PubMed Count',NULL,8599,NULL,NULL,NULL,13,NULL,NULL,NULL),(30996,'NCBI Gene PubMed Count',NULL,8600,NULL,NULL,NULL,16,NULL,NULL,NULL),(30997,'NCBI Gene PubMed Count',NULL,8601,NULL,NULL,NULL,16,NULL,NULL,NULL),(30998,'NCBI Gene Summary',NULL,8602,NULL,'The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(30999,'NCBI Gene PubMed Count',NULL,8602,NULL,NULL,NULL,29,NULL,NULL,NULL),(31000,'NCBI Gene Summary',NULL,8603,NULL,'This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(31001,'NCBI Gene PubMed Count',NULL,8603,NULL,NULL,NULL,21,NULL,NULL,NULL),(31002,'NCBI Gene Summary',NULL,8604,NULL,'SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targets ARFRP1 to the Golgi apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(31003,'NCBI Gene PubMed Count',NULL,8604,NULL,NULL,NULL,6,NULL,NULL,NULL),(31004,'NCBI Gene Summary',NULL,8605,NULL,'This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(31005,'NCBI Gene PubMed Count',NULL,8605,NULL,NULL,NULL,9,NULL,NULL,NULL),(31006,'NCBI Gene Summary',NULL,8606,NULL,'The degradation of many proteins is carried out by the ubiquitin pathway in which proteins are targeted for degradation by covalent conjugation of the polypeptide ubiquitin. This gene encodes a protein that belongs to the ubiquitin family of proteins. The encoded protein is thought to regulate E2 ubiquitin conjugating enzymes belonging to the UBE2D family. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(31007,'NCBI Gene PubMed Count',NULL,8606,NULL,NULL,NULL,14,NULL,NULL,NULL),(31008,'NCBI Gene Summary',NULL,8607,NULL,'This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(31009,'NCBI Gene PubMed Count',NULL,8607,NULL,NULL,NULL,17,NULL,NULL,NULL),(31010,'NCBI Gene Summary',NULL,8608,NULL,'This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(31011,'NCBI Gene PubMed Count',NULL,8608,NULL,NULL,NULL,11,NULL,NULL,NULL),(31012,'NCBI Gene PubMed Count',NULL,8609,NULL,NULL,NULL,12,NULL,NULL,NULL),(31013,'NCBI Gene Summary',NULL,8610,NULL,'The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(31014,'NCBI Gene PubMed Count',NULL,8610,NULL,NULL,NULL,88,NULL,NULL,NULL),(31015,'NCBI Gene Summary',NULL,8611,NULL,'Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(31016,'NCBI Gene PubMed Count',NULL,8611,NULL,NULL,NULL,21,NULL,NULL,NULL),(31017,'NCBI Gene Summary',NULL,8612,NULL,'The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(31018,'NCBI Gene PubMed Count',NULL,8612,NULL,NULL,NULL,33,NULL,NULL,NULL),(31019,'NCBI Gene PubMed Count',NULL,8613,NULL,NULL,NULL,3,NULL,NULL,NULL),(31020,'NCBI Gene Summary',NULL,8614,NULL,'The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(31021,'NCBI Gene PubMed Count',NULL,8614,NULL,NULL,NULL,7,NULL,NULL,NULL),(31022,'NCBI Gene PubMed Count',NULL,8615,NULL,NULL,NULL,21,NULL,NULL,NULL),(31023,'NCBI Gene Summary',NULL,8616,NULL,'The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(31024,'NCBI Gene PubMed Count',NULL,8616,NULL,NULL,NULL,166,NULL,NULL,NULL),(31025,'NCBI Gene PubMed Count',NULL,8617,NULL,NULL,NULL,25,NULL,NULL,NULL),(31026,'NCBI Gene Summary',NULL,8618,NULL,'This gene encodes a glycosyltransferase that is invovled in the metabolism and elimination of toxic compounts, both endogenous and of xenobiotic origin. This gene plays a role in the regulation of estrogens and androgens. This locus is present in a cluster of similar genes and pseudogenes on chromosome 4. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(31027,'NCBI Gene PubMed Count',NULL,8618,NULL,NULL,NULL,82,NULL,NULL,NULL),(31028,'NCBI Gene Summary',NULL,8619,NULL,'This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Two transcript variants encoding different isoforms have been found for this gene. While both isoforms are targeted to the endoplasmic reticulum, only the longer isoform appears to be active. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(31029,'NCBI Gene PubMed Count',NULL,8619,NULL,NULL,NULL,8,NULL,NULL,NULL),(31030,'NCBI Gene Summary',NULL,8620,NULL,'Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer\'s disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(31031,'NCBI Gene PubMed Count',NULL,8620,NULL,NULL,NULL,1504,NULL,NULL,NULL),(31032,'NCBI Gene Summary',NULL,8621,NULL,'This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(31033,'NCBI Gene PubMed Count',NULL,8621,NULL,NULL,NULL,19,NULL,NULL,NULL),(31034,'NCBI Gene Summary',NULL,8622,NULL,'This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(31035,'NCBI Gene PubMed Count',NULL,8622,NULL,NULL,NULL,86,NULL,NULL,NULL),(31036,'NCBI Gene Summary',NULL,8623,NULL,'This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(31037,'NCBI Gene PubMed Count',NULL,8623,NULL,NULL,NULL,10,NULL,NULL,NULL),(31038,'NCBI Gene Summary',NULL,8624,NULL,'This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(31039,'NCBI Gene PubMed Count',NULL,8624,NULL,NULL,NULL,10,NULL,NULL,NULL),(31040,'NCBI Gene Summary',NULL,8625,NULL,'This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome and displays antimicrobial activity. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(31041,'NCBI Gene PubMed Count',NULL,8625,NULL,NULL,NULL,25,NULL,NULL,NULL),(31042,'NCBI Gene Summary',NULL,8626,NULL,'This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(31043,'NCBI Gene PubMed Count',NULL,8626,NULL,NULL,NULL,20,NULL,NULL,NULL),(31044,'NCBI Gene Summary',NULL,8627,NULL,'This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that are known calcium sensors and mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. The encoded protein is also a substrate for ubiquitin-E3-ligase parkin. The gene has previously been referred to as synaptotagmin XII but has been renamed synaptotagmin XI to be consistent with mouse and rat official nomenclature. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(31045,'NCBI Gene PubMed Count',NULL,8627,NULL,NULL,NULL,25,NULL,NULL,NULL),(31046,'NCBI Gene Summary',NULL,8628,NULL,'This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(31047,'NCBI Gene PubMed Count',NULL,8628,NULL,NULL,NULL,8,NULL,NULL,NULL),(31048,'NCBI Gene Summary',NULL,8629,NULL,'p97 or VCP (valosin-containing protein) is a versatile ATPase complex, and many cofactors are required for the p97 functional diversity. This gene encodes one of the p97 cofactors. This cofactor is a transmembrane protein and localized in the endoplasmic reticulum (ER) membrane. It tethers p97 to the ER membrane via its UBX domain. The association of this cofactor with p97 facilitates efficient ER-associated degradation of misfolded proteins. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(31049,'NCBI Gene PubMed Count',NULL,8629,NULL,NULL,NULL,7,NULL,NULL,NULL),(31050,'NCBI Gene Summary',NULL,8630,NULL,'Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied by OMIM, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(31051,'NCBI Gene PubMed Count',NULL,8630,NULL,NULL,NULL,15,NULL,NULL,NULL),(31052,'NCBI Gene Summary',NULL,8631,NULL,'Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5\'-UCP3-UCP2-3\'. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31053,'NCBI Gene PubMed Count',NULL,8631,NULL,NULL,NULL,326,NULL,NULL,NULL),(31054,'NCBI Gene Summary',NULL,8632,NULL,'Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene\'s protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(31055,'NCBI Gene PubMed Count',NULL,8632,NULL,NULL,NULL,172,NULL,NULL,NULL),(31056,'NCBI Gene Summary',NULL,8633,NULL,'This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(31057,'NCBI Gene PubMed Count',NULL,8633,NULL,NULL,NULL,33,NULL,NULL,NULL),(31058,'NCBI Gene Summary',NULL,8634,NULL,'The protein encoded by this gene belongs to a family of peripheral membrane proteins that play a role in vesicular trafficking. This protein binds phospholipids in the presence of calcium ions. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(31059,'NCBI Gene PubMed Count',NULL,8634,NULL,NULL,NULL,12,NULL,NULL,NULL),(31060,'NCBI Gene Summary',NULL,8635,NULL,'This gene encodes a member of the synaptotagmin like protein family. Members of this family are characterized by an N-terminal Rab27 binding domain and C-terminal tandem C2 domains. The encoded protein binds specific small Rab GTPases and is involved in intracellular membrane trafficking. This protein binds Rab27 and may be involved in inhibiting dense core vesicle exocytosis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(31061,'NCBI Gene PubMed Count',NULL,8635,NULL,NULL,NULL,30,NULL,NULL,NULL),(31062,'NCBI Gene Summary',NULL,8636,NULL,'This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(31063,'NCBI Gene PubMed Count',NULL,8636,NULL,NULL,NULL,39,NULL,NULL,NULL),(31064,'NCBI Gene Summary',NULL,8637,NULL,'Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(31065,'NCBI Gene PubMed Count',NULL,8637,NULL,NULL,NULL,33,NULL,NULL,NULL),(31066,'NCBI Gene PubMed Count',NULL,8638,NULL,NULL,NULL,8,NULL,NULL,NULL),(31067,'NCBI Gene Summary',NULL,8639,NULL,'The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(31068,'NCBI Gene PubMed Count',NULL,8639,NULL,NULL,NULL,53,NULL,NULL,NULL),(31069,'NCBI Gene Summary',NULL,8640,NULL,'Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of a human endogenous retrovirus provirus on chromosome 6 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene\'s protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(31070,'NCBI Gene PubMed Count',NULL,8640,NULL,NULL,NULL,28,NULL,NULL,NULL),(31071,'NCBI Gene Summary',NULL,8641,NULL,'Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(31072,'NCBI Gene PubMed Count',NULL,8641,NULL,NULL,NULL,47,NULL,NULL,NULL),(31073,'NCBI Gene Summary',NULL,8642,NULL,'This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31074,'NCBI Gene PubMed Count',NULL,8642,NULL,NULL,NULL,57,NULL,NULL,NULL),(31075,'NCBI Gene Summary',NULL,8643,NULL,'This gene encodes a deubiquitinating enzyme that is phosphorylated at the onset of mitosis and then dephosphorylated at the metaphase/anaphase transition. It can deubiquitinate H2A, one of two major ubiquitinated proteins of chromatin, in vitro and a mutant form of the protein was shown to block cell division. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31076,'NCBI Gene PubMed Count',NULL,8643,NULL,NULL,NULL,21,NULL,NULL,NULL),(31077,'NCBI Gene Summary',NULL,8644,NULL,'The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(31078,'NCBI Gene PubMed Count',NULL,8644,NULL,NULL,NULL,27,NULL,NULL,NULL),(31079,'NCBI Gene Summary',NULL,8645,NULL,'This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(31080,'NCBI Gene PubMed Count',NULL,8645,NULL,NULL,NULL,77,NULL,NULL,NULL),(31081,'NCBI Gene Summary',NULL,8646,NULL,'Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(31082,'NCBI Gene PubMed Count',NULL,8646,NULL,NULL,NULL,25,NULL,NULL,NULL),(31083,'NCBI Gene PubMed Count',NULL,8647,NULL,NULL,NULL,10,NULL,NULL,NULL),(31084,'NCBI Gene PubMed Count',NULL,8648,NULL,NULL,NULL,28,NULL,NULL,NULL),(31085,'NCBI Gene Summary',NULL,8649,NULL,'This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(31086,'NCBI Gene PubMed Count',NULL,8649,NULL,NULL,NULL,50,NULL,NULL,NULL),(31087,'NCBI Gene PubMed Count',NULL,8650,NULL,NULL,NULL,11,NULL,NULL,NULL),(31088,'NCBI Gene PubMed Count',NULL,8651,NULL,NULL,NULL,8,NULL,NULL,NULL),(31089,'NCBI Gene PubMed Count',NULL,8652,NULL,NULL,NULL,12,NULL,NULL,NULL),(31090,'NCBI Gene Summary',NULL,8653,NULL,'This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31091,'NCBI Gene PubMed Count',NULL,8653,NULL,NULL,NULL,18,NULL,NULL,NULL),(31092,'NCBI Gene Summary',NULL,8654,NULL,'This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(31093,'NCBI Gene PubMed Count',NULL,8654,NULL,NULL,NULL,21,NULL,NULL,NULL),(31094,'NCBI Gene Summary',NULL,8656,NULL,'Cellular senescence is a hallmark of tumor suppression and tissue aging. Senescent cells contain domains of heterochromatin, called senescence-associated heterochromatin foci (SAHF), that repress proliferation-promoting genes. The protein encoded by this gene binds to proliferation-promoting genes and is required for SAHF formation, enhancing methylation of histone H3. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(31095,'NCBI Gene PubMed Count',NULL,8656,NULL,NULL,NULL,18,NULL,NULL,NULL),(31096,'NCBI Gene Summary',NULL,8657,NULL,' Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids.  Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases.  The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31097,'NCBI Gene PubMed Count',NULL,8657,NULL,NULL,NULL,16,NULL,NULL,NULL),(31098,'NCBI Gene Summary',NULL,8658,NULL,'This gene encodes a protein that belongs to the interferon-induced transmembrane family of proteins. A similar protein in rat is thought to regulate the development of excitatory synapses. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(31099,'NCBI Gene PubMed Count',NULL,8658,NULL,NULL,NULL,10,NULL,NULL,NULL),(31100,'NCBI Gene Summary',NULL,8659,NULL,'The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(31101,'NCBI Gene PubMed Count',NULL,8659,NULL,NULL,NULL,52,NULL,NULL,NULL),(31102,'NCBI Gene PubMed Count',NULL,8660,NULL,NULL,NULL,32,NULL,NULL,NULL),(31103,'NCBI Gene Summary',NULL,8661,NULL,'This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(31104,'NCBI Gene PubMed Count',NULL,8661,NULL,NULL,NULL,25,NULL,NULL,NULL),(31105,'NCBI Gene Summary',NULL,8662,NULL,'This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31106,'NCBI Gene PubMed Count',NULL,8662,NULL,NULL,NULL,19,NULL,NULL,NULL),(31107,'NCBI Gene Summary',NULL,8663,NULL,'This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31108,'NCBI Gene PubMed Count',NULL,8663,NULL,NULL,NULL,29,NULL,NULL,NULL),(31109,'NCBI Gene Summary',NULL,8664,NULL,'The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(31110,'NCBI Gene PubMed Count',NULL,8664,NULL,NULL,NULL,27,NULL,NULL,NULL),(31111,'NCBI Gene PubMed Count',NULL,8665,NULL,NULL,NULL,21,NULL,NULL,NULL),(31112,'NCBI Gene PubMed Count',NULL,8666,NULL,NULL,NULL,15,NULL,NULL,NULL),(31113,'NCBI Gene Summary',NULL,8667,NULL,'This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large subunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(31114,'NCBI Gene PubMed Count',NULL,8667,NULL,NULL,NULL,41,NULL,NULL,NULL),(31115,'NCBI Gene PubMed Count',NULL,8668,NULL,NULL,NULL,27,NULL,NULL,NULL),(31116,'NCBI Gene Summary',NULL,8669,NULL,'This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(31117,'NCBI Gene PubMed Count',NULL,8669,NULL,NULL,NULL,13,NULL,NULL,NULL),(31118,'NCBI Gene Summary',NULL,8670,NULL,'Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31119,'NCBI Gene PubMed Count',NULL,8670,NULL,NULL,NULL,15,NULL,NULL,NULL),(31120,'NCBI Gene PubMed Count',NULL,8671,NULL,NULL,NULL,11,NULL,NULL,NULL),(31121,'NCBI Gene Summary',NULL,8672,NULL,'This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(31122,'NCBI Gene PubMed Count',NULL,8672,NULL,NULL,NULL,16,NULL,NULL,NULL),(31123,'NCBI Gene PubMed Count',NULL,8673,NULL,NULL,NULL,2,NULL,NULL,NULL),(31124,'NCBI Gene Summary',NULL,8674,NULL,'This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(31125,'NCBI Gene PubMed Count',NULL,8674,NULL,NULL,NULL,39,NULL,NULL,NULL),(31126,'NCBI Gene PubMed Count',NULL,8675,NULL,NULL,NULL,6,NULL,NULL,NULL),(31127,'NCBI Gene Summary',NULL,8676,NULL,'The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31128,'NCBI Gene PubMed Count',NULL,8676,NULL,NULL,NULL,6,NULL,NULL,NULL),(31129,'NCBI Gene Summary',NULL,8677,NULL,'This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(31130,'NCBI Gene PubMed Count',NULL,8677,NULL,NULL,NULL,14,NULL,NULL,NULL),(31131,'NCBI Gene Summary',NULL,8678,NULL,'Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(31132,'NCBI Gene PubMed Count',NULL,8678,NULL,NULL,NULL,38,NULL,NULL,NULL),(31133,'NCBI Gene PubMed Count',NULL,8679,NULL,NULL,NULL,19,NULL,NULL,NULL),(31134,'NCBI Gene PubMed Count',NULL,8680,NULL,NULL,NULL,5,NULL,NULL,NULL),(31135,'NCBI Gene PubMed Count',NULL,8681,NULL,NULL,NULL,0,NULL,NULL,NULL),(31136,'NCBI Gene Summary',NULL,8682,NULL,'The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(31137,'NCBI Gene PubMed Count',NULL,8682,NULL,NULL,NULL,17,NULL,NULL,NULL),(31138,'NCBI Gene Summary',NULL,8683,NULL,'This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(31139,'NCBI Gene PubMed Count',NULL,8683,NULL,NULL,NULL,23,NULL,NULL,NULL),(31140,'NCBI Gene PubMed Count',NULL,8684,NULL,NULL,NULL,7,NULL,NULL,NULL),(31141,'NCBI Gene Summary',NULL,8685,NULL,'Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31142,'NCBI Gene PubMed Count',NULL,8685,NULL,NULL,NULL,23,NULL,NULL,NULL),(31143,'NCBI Gene PubMed Count',NULL,8686,NULL,NULL,NULL,21,NULL,NULL,NULL),(31144,'NCBI Gene Summary',NULL,8687,NULL,'This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5\' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31145,'NCBI Gene PubMed Count',NULL,8687,NULL,NULL,NULL,74,NULL,NULL,NULL),(31146,'NCBI Gene Summary',NULL,8688,NULL,'This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5\' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31147,'NCBI Gene PubMed Count',NULL,8688,NULL,NULL,NULL,647,NULL,NULL,NULL),(31148,'NCBI Gene Summary',NULL,8689,NULL,'This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5\' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31149,'NCBI Gene PubMed Count',NULL,8689,NULL,NULL,NULL,78,NULL,NULL,NULL),(31150,'NCBI Gene Summary',NULL,8690,NULL,'This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5\' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31151,'NCBI Gene PubMed Count',NULL,8690,NULL,NULL,NULL,27,NULL,NULL,NULL),(31152,'NCBI Gene Summary',NULL,8691,NULL,'This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5\' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31153,'NCBI Gene PubMed Count',NULL,8691,NULL,NULL,NULL,72,NULL,NULL,NULL),(31154,'NCBI Gene Summary',NULL,8692,NULL,'This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5\' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenols. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31155,'NCBI Gene PubMed Count',NULL,8692,NULL,NULL,NULL,173,NULL,NULL,NULL),(31156,'NCBI Gene PubMed Count',NULL,8693,NULL,NULL,NULL,9,NULL,NULL,NULL),(31157,'NCBI Gene PubMed Count',NULL,8694,NULL,NULL,NULL,8,NULL,NULL,NULL),(31158,'NCBI Gene PubMed Count',NULL,8695,NULL,NULL,NULL,53,NULL,NULL,NULL),(31159,'NCBI Gene PubMed Count',NULL,8696,NULL,NULL,NULL,6,NULL,NULL,NULL),(31160,'NCBI Gene Summary',NULL,8697,NULL,'The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(31161,'NCBI Gene PubMed Count',NULL,8697,NULL,NULL,NULL,13,NULL,NULL,NULL),(31162,'NCBI Gene Summary',NULL,8698,NULL,'FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(31163,'NCBI Gene PubMed Count',NULL,8698,NULL,NULL,NULL,13,NULL,NULL,NULL),(31164,'NCBI Gene PubMed Count',NULL,8699,NULL,NULL,NULL,9,NULL,NULL,NULL),(31165,'NCBI Gene PubMed Count',NULL,8700,NULL,NULL,NULL,22,NULL,NULL,NULL),(31166,'NCBI Gene PubMed Count',NULL,8701,NULL,NULL,NULL,4,NULL,NULL,NULL),(31167,'NCBI Gene PubMed Count',NULL,8702,NULL,NULL,NULL,5,NULL,NULL,NULL),(31168,'NCBI Gene Summary',NULL,8703,NULL,'This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(31169,'NCBI Gene PubMed Count',NULL,8703,NULL,NULL,NULL,10,NULL,NULL,NULL),(31170,'NCBI Gene Summary',NULL,8704,NULL,'UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(31171,'NCBI Gene PubMed Count',NULL,8704,NULL,NULL,NULL,17,NULL,NULL,NULL),(31172,'NCBI Gene Summary',NULL,8705,NULL,'This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(31173,'NCBI Gene PubMed Count',NULL,8705,NULL,NULL,NULL,39,NULL,NULL,NULL),(31174,'NCBI Gene PubMed Count',NULL,8706,NULL,NULL,NULL,76,NULL,NULL,NULL),(31175,'NCBI Gene Summary',NULL,8707,NULL,'TAS2R46 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(31176,'NCBI Gene PubMed Count',NULL,8707,NULL,NULL,NULL,14,NULL,NULL,NULL),(31177,'NCBI Gene Summary',NULL,8708,NULL,'TAS2R50 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). See also TAS2R10 (MIM 604791).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(31178,'NCBI Gene PubMed Count',NULL,8708,NULL,NULL,NULL,19,NULL,NULL,NULL),(31179,'NCBI Gene PubMed Count',NULL,8709,NULL,NULL,NULL,55,NULL,NULL,NULL),(31180,'NCBI Gene Summary',NULL,8710,NULL,'The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(31181,'NCBI Gene PubMed Count',NULL,8710,NULL,NULL,NULL,4,NULL,NULL,NULL),(31182,'NCBI Gene Summary',NULL,8711,NULL,'The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Knockout of the homologous gene in mouse results in a neurobehavioral phenotype with suggested enhanced motor coordination. A deletion mutation in the human gene is associated with specific language impairment-5. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(31183,'NCBI Gene PubMed Count',NULL,8711,NULL,NULL,NULL,12,NULL,NULL,NULL),(31184,'NCBI Gene Summary',NULL,8712,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that can regulate cell proliferation.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(31185,'NCBI Gene PubMed Count',NULL,8712,NULL,NULL,NULL,16,NULL,NULL,NULL),(31186,'NCBI Gene Summary',NULL,8713,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31187,'NCBI Gene PubMed Count',NULL,8713,NULL,NULL,NULL,34,NULL,NULL,NULL),(31188,'NCBI Gene PubMed Count',NULL,8714,NULL,NULL,NULL,5,NULL,NULL,NULL),(31189,'NCBI Gene PubMed Count',NULL,8715,NULL,NULL,NULL,47,NULL,NULL,NULL),(31190,'NCBI Gene Summary',NULL,8716,NULL,'The protein encoded by this gene promotes autophagy and is essential for proper autophagosome formation and processing. In addition, the encoded protein can enhance rDNA transcription by helping in the assembly of the POLR1/RNA polymerase I preinitiation complex. Finally, this protein serves as a transcriptional activator for some genes. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(31191,'NCBI Gene PubMed Count',NULL,8716,NULL,NULL,NULL,18,NULL,NULL,NULL),(31192,'NCBI Gene Summary',NULL,8717,NULL,'This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31193,'NCBI Gene PubMed Count',NULL,8717,NULL,NULL,NULL,14,NULL,NULL,NULL),(31194,'NCBI Gene PubMed Count',NULL,8718,NULL,NULL,NULL,9,NULL,NULL,NULL),(31195,'NCBI Gene PubMed Count',NULL,8719,NULL,NULL,NULL,10,NULL,NULL,NULL),(31196,'NCBI Gene Summary',NULL,8720,NULL,'This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(31197,'NCBI Gene PubMed Count',NULL,8720,NULL,NULL,NULL,15,NULL,NULL,NULL),(31198,'NCBI Gene Summary',NULL,8721,NULL,'This gene encodes a seven-transmembrane G-protein-coupled receptor that likely functions as a receptor for endogenous trace amines. Mutations in this gene may be associated with schizophrenia.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(31199,'NCBI Gene PubMed Count',NULL,8721,NULL,NULL,NULL,28,NULL,NULL,NULL),(31200,'NCBI Gene PubMed Count',NULL,8722,NULL,NULL,NULL,10,NULL,NULL,NULL),(31201,'NCBI Gene Summary',NULL,8723,NULL,'The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31202,'NCBI Gene PubMed Count',NULL,8723,NULL,NULL,NULL,67,NULL,NULL,NULL),(31203,'NCBI Gene Summary',NULL,8724,NULL,'The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(31204,'NCBI Gene PubMed Count',NULL,8724,NULL,NULL,NULL,80,NULL,NULL,NULL),(31205,'NCBI Gene Summary',NULL,8725,NULL,'Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31206,'NCBI Gene PubMed Count',NULL,8725,NULL,NULL,NULL,32,NULL,NULL,NULL),(31207,'NCBI Gene Summary',NULL,8726,NULL,'This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(31208,'NCBI Gene PubMed Count',NULL,8726,NULL,NULL,NULL,78,NULL,NULL,NULL),(31209,'NCBI Gene Summary',NULL,8727,NULL,'This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(31210,'NCBI Gene PubMed Count',NULL,8727,NULL,NULL,NULL,108,NULL,NULL,NULL),(31211,'NCBI Gene Summary',NULL,8728,NULL,'This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(31212,'NCBI Gene PubMed Count',NULL,8728,NULL,NULL,NULL,11,NULL,NULL,NULL),(31213,'NCBI Gene Summary',NULL,8729,NULL,'This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31214,'NCBI Gene PubMed Count',NULL,8729,NULL,NULL,NULL,525,NULL,NULL,NULL),(31215,'NCBI Gene Summary',NULL,8730,NULL,'TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(31216,'NCBI Gene PubMed Count',NULL,8730,NULL,NULL,NULL,8,NULL,NULL,NULL),(31217,'NCBI Gene Summary',NULL,8731,NULL,'This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(31218,'NCBI Gene PubMed Count',NULL,8731,NULL,NULL,NULL,28,NULL,NULL,NULL),(31219,'NCBI Gene Summary',NULL,8732,NULL,'Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(31220,'NCBI Gene PubMed Count',NULL,8732,NULL,NULL,NULL,26,NULL,NULL,NULL),(31221,'NCBI Gene Summary',NULL,8733,NULL,'TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(31222,'NCBI Gene PubMed Count',NULL,8733,NULL,NULL,NULL,9,NULL,NULL,NULL),(31223,'NCBI Gene Summary',NULL,8734,NULL,'This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interchangeably with the TAF1 product. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(31224,'NCBI Gene PubMed Count',NULL,8734,NULL,NULL,NULL,9,NULL,NULL,NULL),(31225,'NCBI Gene Summary',NULL,8735,NULL,'Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31226,'NCBI Gene PubMed Count',NULL,8735,NULL,NULL,NULL,25,NULL,NULL,NULL),(31227,'NCBI Gene Summary',NULL,8736,NULL,'The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31228,'NCBI Gene PubMed Count',NULL,8736,NULL,NULL,NULL,17,NULL,NULL,NULL),(31229,'NCBI Gene Summary',NULL,8737,NULL,'Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31230,'NCBI Gene PubMed Count',NULL,8737,NULL,NULL,NULL,15,NULL,NULL,NULL),(31231,'NCBI Gene Summary',NULL,8738,NULL,'Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31232,'NCBI Gene PubMed Count',NULL,8738,NULL,NULL,NULL,29,NULL,NULL,NULL),(31233,'NCBI Gene Summary',NULL,8739,NULL,'The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009]',NULL,NULL,NULL,NULL,NULL),(31234,'NCBI Gene PubMed Count',NULL,8739,NULL,NULL,NULL,18,NULL,NULL,NULL),(31235,'NCBI Gene Summary',NULL,8740,NULL,'This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(31236,'NCBI Gene PubMed Count',NULL,8740,NULL,NULL,NULL,12,NULL,NULL,NULL),(31237,'NCBI Gene PubMed Count',NULL,8741,NULL,NULL,NULL,15,NULL,NULL,NULL),(31238,'NCBI Gene PubMed Count',NULL,8742,NULL,NULL,NULL,14,NULL,NULL,NULL),(31239,'NCBI Gene Summary',NULL,8743,NULL,'This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(31240,'NCBI Gene PubMed Count',NULL,8743,NULL,NULL,NULL,42,NULL,NULL,NULL),(31241,'NCBI Gene Summary',NULL,8744,NULL,'This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene\'s localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(31242,'NCBI Gene PubMed Count',NULL,8744,NULL,NULL,NULL,35,NULL,NULL,NULL),(31243,'NCBI Gene Summary',NULL,8745,NULL,'This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(31244,'NCBI Gene PubMed Count',NULL,8745,NULL,NULL,NULL,8,NULL,NULL,NULL),(31245,'NCBI Gene Summary',NULL,8746,NULL,'Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31246,'NCBI Gene PubMed Count',NULL,8746,NULL,NULL,NULL,44,NULL,NULL,NULL),(31247,'NCBI Gene PubMed Count',NULL,8747,NULL,NULL,NULL,5,NULL,NULL,NULL),(31248,'NCBI Gene Summary',NULL,8748,NULL,'Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(31249,'NCBI Gene PubMed Count',NULL,8748,NULL,NULL,NULL,39,NULL,NULL,NULL),(31250,'NCBI Gene Summary',NULL,8749,NULL,'The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31251,'NCBI Gene PubMed Count',NULL,8749,NULL,NULL,NULL,45,NULL,NULL,NULL),(31252,'NCBI Gene Summary',NULL,8750,NULL,'This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31253,'NCBI Gene PubMed Count',NULL,8750,NULL,NULL,NULL,12,NULL,NULL,NULL),(31254,'NCBI Gene Summary',NULL,8751,NULL,'Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is similar to one of the small subunits of TFIID, TBP-associated factor 9, and is also a subunit of TFIID. TAF9 and TAF9b share some functions but also have distinct roles in the transcriptional regulatory process. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31255,'NCBI Gene PubMed Count',NULL,8751,NULL,NULL,NULL,10,NULL,NULL,NULL),(31256,'NCBI Gene PubMed Count',NULL,8752,NULL,NULL,NULL,11,NULL,NULL,NULL),(31257,'NCBI Gene PubMed Count',NULL,8753,NULL,NULL,NULL,40,NULL,NULL,NULL),(31258,'NCBI Gene PubMed Count',NULL,8754,NULL,NULL,NULL,6,NULL,NULL,NULL),(31259,'NCBI Gene PubMed Count',NULL,8755,NULL,NULL,NULL,3,NULL,NULL,NULL),(31260,'NCBI Gene PubMed Count',NULL,8756,NULL,NULL,NULL,16,NULL,NULL,NULL),(31261,'NCBI Gene PubMed Count',NULL,8757,NULL,NULL,NULL,18,NULL,NULL,NULL),(31262,'NCBI Gene Summary',NULL,8758,NULL,'Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31263,'NCBI Gene PubMed Count',NULL,8758,NULL,NULL,NULL,35,NULL,NULL,NULL),(31264,'NCBI Gene PubMed Count',NULL,8759,NULL,NULL,NULL,7,NULL,NULL,NULL),(31265,'NCBI Gene Summary',NULL,8760,NULL,'This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5\' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5\' UTR have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(31266,'NCBI Gene PubMed Count',NULL,8760,NULL,NULL,NULL,55,NULL,NULL,NULL),(31267,'NCBI Gene Summary',NULL,8761,NULL,'The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(31268,'NCBI Gene PubMed Count',NULL,8761,NULL,NULL,NULL,12,NULL,NULL,NULL),(31269,'NCBI Gene Summary',NULL,8762,NULL,'The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31270,'NCBI Gene PubMed Count',NULL,8762,NULL,NULL,NULL,8,NULL,NULL,NULL),(31271,'NCBI Gene Summary',NULL,8763,NULL,'This gene encodes a protein that contains a PHD-type zinc finger domain and likely functions as a transcription factor. The encoded protein plays a role proliferation and apoptosis of pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(31272,'NCBI Gene PubMed Count',NULL,8763,NULL,NULL,NULL,22,NULL,NULL,NULL),(31273,'NCBI Gene Summary',NULL,8764,NULL,'This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(31274,'NCBI Gene PubMed Count',NULL,8764,NULL,NULL,NULL,9,NULL,NULL,NULL),(31275,'NCBI Gene Summary',NULL,8765,NULL,'Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31276,'NCBI Gene PubMed Count',NULL,8765,NULL,NULL,NULL,47,NULL,NULL,NULL),(31277,'NCBI Gene Summary',NULL,8766,NULL,'Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31278,'NCBI Gene PubMed Count',NULL,8766,NULL,NULL,NULL,20,NULL,NULL,NULL),(31279,'NCBI Gene Summary',NULL,8767,NULL,'This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31280,'NCBI Gene PubMed Count',NULL,8767,NULL,NULL,NULL,76,NULL,NULL,NULL),(31281,'NCBI Gene Summary',NULL,8768,NULL,'This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31282,'NCBI Gene PubMed Count',NULL,8768,NULL,NULL,NULL,28,NULL,NULL,NULL),(31283,'NCBI Gene PubMed Count',NULL,8769,NULL,NULL,NULL,9,NULL,NULL,NULL),(31284,'NCBI Gene Summary',NULL,8770,NULL,'This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31285,'NCBI Gene PubMed Count',NULL,8770,NULL,NULL,NULL,68,NULL,NULL,NULL),(31286,'NCBI Gene PubMed Count',NULL,8771,NULL,NULL,NULL,8,NULL,NULL,NULL),(31287,'NCBI Gene Summary',NULL,8772,NULL,'This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(31288,'NCBI Gene PubMed Count',NULL,8772,NULL,NULL,NULL,24,NULL,NULL,NULL),(31289,'NCBI Gene Summary',NULL,8773,NULL,'This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(31290,'NCBI Gene PubMed Count',NULL,8773,NULL,NULL,NULL,62,NULL,NULL,NULL),(31291,'NCBI Gene PubMed Count',NULL,8774,NULL,NULL,NULL,6,NULL,NULL,NULL),(31292,'NCBI Gene Summary',NULL,8775,NULL,'This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(31293,'NCBI Gene PubMed Count',NULL,8775,NULL,NULL,NULL,80,NULL,NULL,NULL),(31294,'NCBI Gene Summary',NULL,8776,NULL,'This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplication. This protein plays a central role in organization of the microtubules during centriole duplication. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(31295,'NCBI Gene PubMed Count',NULL,8776,NULL,NULL,NULL,9,NULL,NULL,NULL),(31296,'NCBI Gene Summary',NULL,8777,NULL,'This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(31297,'NCBI Gene PubMed Count',NULL,8777,NULL,NULL,NULL,23,NULL,NULL,NULL),(31298,'NCBI Gene PubMed Count',NULL,8778,NULL,NULL,NULL,12,NULL,NULL,NULL),(31299,'NCBI Gene PubMed Count',NULL,8779,NULL,NULL,NULL,9,NULL,NULL,NULL),(31300,'NCBI Gene PubMed Count',NULL,8780,NULL,NULL,NULL,6,NULL,NULL,NULL),(31301,'NCBI Gene PubMed Count',NULL,8781,NULL,NULL,NULL,2,NULL,NULL,NULL),(31302,'NCBI Gene Summary',NULL,8782,NULL,'Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31303,'NCBI Gene PubMed Count',NULL,8782,NULL,NULL,NULL,37,NULL,NULL,NULL),(31304,'NCBI Gene PubMed Count',NULL,8783,NULL,NULL,NULL,7,NULL,NULL,NULL),(31305,'NCBI Gene Summary',NULL,8784,NULL,'This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31306,'NCBI Gene PubMed Count',NULL,8784,NULL,NULL,NULL,48,NULL,NULL,NULL),(31307,'NCBI Gene Summary',NULL,8785,NULL,'This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(31308,'NCBI Gene PubMed Count',NULL,8785,NULL,NULL,NULL,124,NULL,NULL,NULL),(31309,'NCBI Gene Summary',NULL,8786,NULL,'Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(31310,'NCBI Gene PubMed Count',NULL,8786,NULL,NULL,NULL,82,NULL,NULL,NULL),(31311,'NCBI Gene PubMed Count',NULL,8787,NULL,NULL,NULL,1,NULL,NULL,NULL),(31312,'NCBI Gene Summary',NULL,8788,NULL,'The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(31313,'NCBI Gene PubMed Count',NULL,8788,NULL,NULL,NULL,89,NULL,NULL,NULL),(31314,'NCBI Gene Summary',NULL,8789,NULL,'This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31315,'NCBI Gene PubMed Count',NULL,8789,NULL,NULL,NULL,6,NULL,NULL,NULL),(31316,'NCBI Gene Summary',NULL,8790,NULL,'This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(31317,'NCBI Gene PubMed Count',NULL,8790,NULL,NULL,NULL,54,NULL,NULL,NULL),(31318,'NCBI Gene Summary',NULL,8791,NULL,'The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(31319,'NCBI Gene PubMed Count',NULL,8791,NULL,NULL,NULL,26,NULL,NULL,NULL),(31320,'NCBI Gene Summary',NULL,8792,NULL,'This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(31321,'NCBI Gene PubMed Count',NULL,8792,NULL,NULL,NULL,16,NULL,NULL,NULL),(31322,'NCBI Gene Summary',NULL,8793,NULL,'The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(31323,'NCBI Gene PubMed Count',NULL,8793,NULL,NULL,NULL,54,NULL,NULL,NULL),(31324,'NCBI Gene Summary',NULL,8794,NULL,'This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(31325,'NCBI Gene PubMed Count',NULL,8794,NULL,NULL,NULL,10,NULL,NULL,NULL),(31326,'NCBI Gene Summary',NULL,8795,NULL,'The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, several pseudogenes of this gene have been located. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(31327,'NCBI Gene PubMed Count',NULL,8795,NULL,NULL,NULL,28,NULL,NULL,NULL),(31328,'NCBI Gene Summary',NULL,8796,NULL,'The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane.  Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31329,'NCBI Gene PubMed Count',NULL,8796,NULL,NULL,NULL,41,NULL,NULL,NULL),(31330,'NCBI Gene Summary',NULL,8797,NULL,'The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31331,'NCBI Gene PubMed Count',NULL,8797,NULL,NULL,NULL,59,NULL,NULL,NULL),(31332,'NCBI Gene Summary',NULL,8798,NULL,'This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31333,'NCBI Gene PubMed Count',NULL,8798,NULL,NULL,NULL,162,NULL,NULL,NULL),(31334,'NCBI Gene Summary',NULL,8799,NULL,'This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31335,'NCBI Gene PubMed Count',NULL,8799,NULL,NULL,NULL,189,NULL,NULL,NULL),(31336,'NCBI Gene PubMed Count',NULL,8800,NULL,NULL,NULL,6,NULL,NULL,NULL),(31337,'NCBI Gene Summary',NULL,8801,NULL,'Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is TFIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(31338,'NCBI Gene PubMed Count',NULL,8801,NULL,NULL,NULL,49,NULL,NULL,NULL),(31339,'NCBI Gene Summary',NULL,8802,NULL,'The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(31340,'NCBI Gene PubMed Count',NULL,8802,NULL,NULL,NULL,20,NULL,NULL,NULL),(31341,'NCBI Gene PubMed Count',NULL,8803,NULL,NULL,NULL,4,NULL,NULL,NULL),(31342,'NCBI Gene PubMed Count',NULL,8804,NULL,NULL,NULL,3,NULL,NULL,NULL),(31343,'NCBI Gene PubMed Count',NULL,8805,NULL,NULL,NULL,0,NULL,NULL,NULL),(31344,'NCBI Gene PubMed Count',NULL,8806,NULL,NULL,NULL,1,NULL,NULL,NULL),(31345,'NCBI Gene PubMed Count',NULL,8807,NULL,NULL,NULL,0,NULL,NULL,NULL),(31346,'NCBI Gene PubMed Count',NULL,8808,NULL,NULL,NULL,0,NULL,NULL,NULL),(31347,'NCBI Gene PubMed Count',NULL,8809,NULL,NULL,NULL,0,NULL,NULL,NULL),(31348,'NCBI Gene PubMed Count',NULL,8810,NULL,NULL,NULL,7,NULL,NULL,NULL),(31349,'NCBI Gene Summary',NULL,8811,NULL,'This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(31350,'NCBI Gene PubMed Count',NULL,8811,NULL,NULL,NULL,125,NULL,NULL,NULL),(31351,'NCBI Gene Summary',NULL,8812,NULL,'This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(31352,'NCBI Gene PubMed Count',NULL,8812,NULL,NULL,NULL,131,NULL,NULL,NULL),(31353,'NCBI Gene Summary',NULL,8813,NULL,'The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(31354,'NCBI Gene PubMed Count',NULL,8813,NULL,NULL,NULL,25,NULL,NULL,NULL),(31355,'NCBI Gene PubMed Count',NULL,8814,NULL,NULL,NULL,21,NULL,NULL,NULL),(31356,'NCBI Gene Summary',NULL,8815,NULL,'This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer\'s disease. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(31357,'NCBI Gene PubMed Count',NULL,8815,NULL,NULL,NULL,60,NULL,NULL,NULL),(31358,'NCBI Gene Summary',NULL,8816,NULL,'This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(31359,'NCBI Gene PubMed Count',NULL,8816,NULL,NULL,NULL,21,NULL,NULL,NULL),(31360,'NCBI Gene Summary',NULL,8817,NULL,'RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(31361,'NCBI Gene PubMed Count',NULL,8817,NULL,NULL,NULL,5,NULL,NULL,NULL),(31362,'NCBI Gene Summary',NULL,8818,NULL,'NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(31363,'NCBI Gene PubMed Count',NULL,8818,NULL,NULL,NULL,1126,NULL,NULL,NULL),(31364,'NCBI Gene PubMed Count',NULL,8819,NULL,NULL,NULL,35,NULL,NULL,NULL),(31365,'NCBI Gene Summary',NULL,8820,NULL,'This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(31366,'NCBI Gene PubMed Count',NULL,8820,NULL,NULL,NULL,665,NULL,NULL,NULL),(31367,'NCBI Gene Summary',NULL,8821,NULL,'This gene is the target of 2p21 choromosomal aberrations in benign thyroid adenomas. Single nucleotide polymorphisms (SNPs) in this gene may be associated with type 2 diabetes and polycystic ovary syndrome. The encoded protein is likely involved in the death receptor pathway and apoptosis. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(31368,'NCBI Gene PubMed Count',NULL,8821,NULL,NULL,NULL,72,NULL,NULL,NULL),(31369,'NCBI Gene Summary',NULL,8822,NULL,'The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5\' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(31370,'NCBI Gene PubMed Count',NULL,8822,NULL,NULL,NULL,21,NULL,NULL,NULL),(31371,'NCBI Gene Summary',NULL,8823,NULL,'This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3\' to 5\' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(31372,'NCBI Gene PubMed Count',NULL,8823,NULL,NULL,NULL,290,NULL,NULL,NULL),(31373,'NCBI Gene Summary',NULL,8824,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Studies of the related mouse protein suggest that the encoded protein may play a role in the process of ossification. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(31374,'NCBI Gene PubMed Count',NULL,8824,NULL,NULL,NULL,13,NULL,NULL,NULL),(31375,'NCBI Gene Summary',NULL,8825,NULL,'UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(31376,'NCBI Gene PubMed Count',NULL,8825,NULL,NULL,NULL,16,NULL,NULL,NULL),(31377,'NCBI Gene PubMed Count',NULL,8826,NULL,NULL,NULL,11,NULL,NULL,NULL),(31378,'NCBI Gene PubMed Count',NULL,8827,NULL,NULL,NULL,14,NULL,NULL,NULL),(31379,'NCBI Gene Summary',NULL,8828,NULL,'This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(31380,'NCBI Gene PubMed Count',NULL,8828,NULL,NULL,NULL,14,NULL,NULL,NULL),(31381,'NCBI Gene Summary',NULL,8829,NULL,'Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(31382,'NCBI Gene PubMed Count',NULL,8829,NULL,NULL,NULL,32,NULL,NULL,NULL),(31383,'NCBI Gene Summary',NULL,8830,NULL,'The protein encoded by this gene is similar to the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The specific function of this protein has not yet been determined, although it is thought to be a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(31384,'NCBI Gene PubMed Count',NULL,8830,NULL,NULL,NULL,43,NULL,NULL,NULL),(31385,'NCBI Gene Summary',NULL,8831,NULL,'This gene encodes a shape change and transformation sensitive actin-binding protein which belongs to the calponin family. It is ubiquitously expressed in vascular and visceral smooth muscle, and is an early marker of smooth muscle differentiation. The encoded protein is thought to be involved in calcium-independent smooth muscle contraction. It acts as a tumor suppressor, and the loss of its expression is an early event in cell transformation and the development of some tumors, coinciding with cellular plasticity. The encoded protein has a domain architecture consisting of an N-terminal calponin homology (CH) domain and a C-terminal calponin-like (CLIK) domain. Mice with a knockout of the orthologous gene are viable and fertile but their vascular smooth muscle cells exhibit alterations in the distribution of the actin filament and changes in cytoskeletal organization. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(31386,'NCBI Gene PubMed Count',NULL,8831,NULL,NULL,NULL,80,NULL,NULL,NULL),(31387,'NCBI Gene PubMed Count',NULL,8832,NULL,NULL,NULL,15,NULL,NULL,NULL),(31388,'NCBI Gene Summary',NULL,8833,NULL,'This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31389,'NCBI Gene PubMed Count',NULL,8833,NULL,NULL,NULL,19,NULL,NULL,NULL),(31390,'NCBI Gene Summary',NULL,8834,NULL,'Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31391,'NCBI Gene PubMed Count',NULL,8834,NULL,NULL,NULL,29,NULL,NULL,NULL),(31392,'NCBI Gene Summary',NULL,8835,NULL,'Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(31393,'NCBI Gene PubMed Count',NULL,8835,NULL,NULL,NULL,81,NULL,NULL,NULL),(31394,'NCBI Gene PubMed Count',NULL,8836,NULL,NULL,NULL,5,NULL,NULL,NULL),(31395,'NCBI Gene Summary',NULL,8837,NULL,'This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(31396,'NCBI Gene PubMed Count',NULL,8837,NULL,NULL,NULL,69,NULL,NULL,NULL),(31397,'NCBI Gene PubMed Count',NULL,8838,NULL,NULL,NULL,17,NULL,NULL,NULL),(31398,'NCBI Gene PubMed Count',NULL,8839,NULL,NULL,NULL,9,NULL,NULL,NULL),(31399,'NCBI Gene PubMed Count',NULL,8840,NULL,NULL,NULL,22,NULL,NULL,NULL),(31400,'NCBI Gene PubMed Count',NULL,8841,NULL,NULL,NULL,10,NULL,NULL,NULL),(31401,'NCBI Gene PubMed Count',NULL,8842,NULL,NULL,NULL,21,NULL,NULL,NULL),(31402,'NCBI Gene Summary',NULL,8843,NULL,'This gene encodes a protein that is a regulator of cellular growth and proliferation. Its mRNA is highly structured and contains an oligopyrimidine tract (5\'-TOP) in its 5\' untranslated region that functions to repress its translation under quiescent conditions. The encoded protein is involved in a variety of cellular pathways, including apoptosis, protein synthesis and cell division. It binds to and stabilizes microtubules, and removal of this protein through phosphorylation is required for progression through mitotic and meiotic cell divisions. This gene is known to play a role in carcinogenesis, and is upregulated in some cancer cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(31403,'NCBI Gene PubMed Count',NULL,8843,NULL,NULL,NULL,105,NULL,NULL,NULL),(31404,'NCBI Gene PubMed Count',NULL,8844,NULL,NULL,NULL,5,NULL,NULL,NULL),(31405,'NCBI Gene Summary',NULL,8845,NULL,'This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31406,'NCBI Gene PubMed Count',NULL,8845,NULL,NULL,NULL,8,NULL,NULL,NULL),(31407,'NCBI Gene PubMed Count',NULL,8846,NULL,NULL,NULL,6,NULL,NULL,NULL),(31408,'NCBI Gene Summary',NULL,8847,NULL,'This gene, which is located on the X chromosome, encodes a protein which contains a BEX (brain expressed X-liked like family) domain. This domain is found in proteins encoded by the TCEAL elongation factor (transcription elongation factor A (SII)-like) gene family also located on the X chromosome. The coding region for this gene is located entirely in the terminal exon. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(31409,'NCBI Gene PubMed Count',NULL,8847,NULL,NULL,NULL,6,NULL,NULL,NULL),(31410,'NCBI Gene PubMed Count',NULL,8848,NULL,NULL,NULL,7,NULL,NULL,NULL),(31411,'NCBI Gene Summary',NULL,8849,NULL,'C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(31412,'NCBI Gene PubMed Count',NULL,8849,NULL,NULL,NULL,16,NULL,NULL,NULL),(31413,'NCBI Gene Summary',NULL,8850,NULL,'The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein. This gene also encodes a domain with similarity to the transcription elongation factor A, SII-related family. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31414,'NCBI Gene PubMed Count',NULL,8850,NULL,NULL,NULL,9,NULL,NULL,NULL),(31415,'NCBI Gene Summary',NULL,8851,NULL,'This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(31416,'NCBI Gene PubMed Count',NULL,8851,NULL,NULL,NULL,14,NULL,NULL,NULL),(31417,'NCBI Gene Summary',NULL,8852,NULL,'This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson\'s chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(31418,'NCBI Gene PubMed Count',NULL,8852,NULL,NULL,NULL,75,NULL,NULL,NULL),(31419,'NCBI Gene PubMed Count',NULL,8853,NULL,NULL,NULL,11,NULL,NULL,NULL),(31420,'NCBI Gene Summary',NULL,8854,NULL,'This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(31421,'NCBI Gene PubMed Count',NULL,8854,NULL,NULL,NULL,231,NULL,NULL,NULL),(31422,'NCBI Gene Summary',NULL,8855,NULL,'The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3\' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31423,'NCBI Gene PubMed Count',NULL,8855,NULL,NULL,NULL,118,NULL,NULL,NULL),(31424,'NCBI Gene PubMed Count',NULL,8856,NULL,NULL,NULL,18,NULL,NULL,NULL),(31425,'NCBI Gene PubMed Count',NULL,8857,NULL,NULL,NULL,5,NULL,NULL,NULL),(31426,'NCBI Gene PubMed Count',NULL,8858,NULL,NULL,NULL,6,NULL,NULL,NULL),(31427,'NCBI Gene PubMed Count',NULL,8859,NULL,NULL,NULL,20,NULL,NULL,NULL),(31428,'NCBI Gene Summary',NULL,8860,NULL,'The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(31429,'NCBI Gene PubMed Count',NULL,8860,NULL,NULL,NULL,14,NULL,NULL,NULL),(31430,'NCBI Gene Summary',NULL,8861,NULL,'This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(31431,'NCBI Gene PubMed Count',NULL,8861,NULL,NULL,NULL,50,NULL,NULL,NULL),(31432,'NCBI Gene Summary',NULL,8862,NULL,'This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(31433,'NCBI Gene PubMed Count',NULL,8862,NULL,NULL,NULL,26,NULL,NULL,NULL),(31434,'NCBI Gene PubMed Count',NULL,8863,NULL,NULL,NULL,8,NULL,NULL,NULL),(31435,'NCBI Gene Summary',NULL,8864,NULL,'TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(31436,'NCBI Gene PubMed Count',NULL,8864,NULL,NULL,NULL,38,NULL,NULL,NULL),(31437,'NCBI Gene Summary',NULL,8865,NULL,'TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(31438,'NCBI Gene PubMed Count',NULL,8865,NULL,NULL,NULL,15,NULL,NULL,NULL),(31439,'NCBI Gene Summary',NULL,8866,NULL,'This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(31440,'NCBI Gene PubMed Count',NULL,8866,NULL,NULL,NULL,21,NULL,NULL,NULL),(31441,'NCBI Gene PubMed Count',NULL,8867,NULL,NULL,NULL,21,NULL,NULL,NULL),(31442,'NCBI Gene Summary',NULL,8868,NULL,'This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(31443,'NCBI Gene PubMed Count',NULL,8868,NULL,NULL,NULL,51,NULL,NULL,NULL),(31444,'NCBI Gene Summary',NULL,8869,NULL,'The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31445,'NCBI Gene PubMed Count',NULL,8869,NULL,NULL,NULL,11,NULL,NULL,NULL),(31446,'NCBI Gene Summary',NULL,8870,NULL,'This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31447,'NCBI Gene PubMed Count',NULL,8870,NULL,NULL,NULL,29,NULL,NULL,NULL),(31448,'NCBI Gene Summary',NULL,8871,NULL,'TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31449,'NCBI Gene PubMed Count',NULL,8871,NULL,NULL,NULL,49,NULL,NULL,NULL),(31450,'NCBI Gene PubMed Count',NULL,8872,NULL,NULL,NULL,5,NULL,NULL,NULL),(31451,'NCBI Gene Summary',NULL,8873,NULL,'This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(31452,'NCBI Gene PubMed Count',NULL,8873,NULL,NULL,NULL,26,NULL,NULL,NULL),(31453,'NCBI Gene PubMed Count',NULL,8874,NULL,NULL,NULL,11,NULL,NULL,NULL),(31454,'NCBI Gene Summary',NULL,8875,NULL,'This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(31455,'NCBI Gene PubMed Count',NULL,8875,NULL,NULL,NULL,33,NULL,NULL,NULL),(31456,'NCBI Gene Summary',NULL,8876,NULL,'This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(31457,'NCBI Gene PubMed Count',NULL,8876,NULL,NULL,NULL,27,NULL,NULL,NULL),(31458,'NCBI Gene Summary',NULL,8877,NULL,'This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31459,'NCBI Gene PubMed Count',NULL,8877,NULL,NULL,NULL,11,NULL,NULL,NULL),(31460,'NCBI Gene Summary',NULL,8878,NULL,'This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(31461,'NCBI Gene PubMed Count',NULL,8878,NULL,NULL,NULL,114,NULL,NULL,NULL),(31462,'NCBI Gene Summary',NULL,8879,NULL,'The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains a Src homology 2 (SH2) domain, which is often found in molecules involved in signal transduction. This protein is a substrate of calpain II. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(31463,'NCBI Gene PubMed Count',NULL,8879,NULL,NULL,NULL,34,NULL,NULL,NULL),(31464,'NCBI Gene PubMed Count',NULL,8880,NULL,NULL,NULL,27,NULL,NULL,NULL),(31465,'NCBI Gene Summary',NULL,8881,NULL,'This gene encodes coagulation factor III which is a cell surface glycoprotein. This factor enables cells to initiate the blood coagulation cascades, and it functions as the high-affinity receptor for the coagulation factor VII. The resulting complex provides a catalytic event that is responsible for initiation of the coagulation protease cascades by specific limited proteolysis. Unlike the other cofactors of these protease cascades, which circulate as nonfunctional precursors, this factor is a potent initiator that is fully functional when expressed on cell surfaces. There are 3 distinct domains of this factor: extracellular, transmembrane, and cytoplasmic. This protein is the only one in the coagulation pathway for which a congenital deficiency has not been described. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(31466,'NCBI Gene PubMed Count',NULL,8881,NULL,NULL,NULL,587,NULL,NULL,NULL),(31467,'NCBI Gene PubMed Count',NULL,8882,NULL,NULL,NULL,25,NULL,NULL,NULL),(31468,'NCBI Gene Summary',NULL,8883,NULL,'There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(31469,'NCBI Gene PubMed Count',NULL,8883,NULL,NULL,NULL,43,NULL,NULL,NULL),(31470,'NCBI Gene Summary',NULL,8884,NULL,'The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(31471,'NCBI Gene PubMed Count',NULL,8884,NULL,NULL,NULL,8,NULL,NULL,NULL),(31472,'NCBI Gene PubMed Count',NULL,8885,NULL,NULL,NULL,40,NULL,NULL,NULL),(31473,'NCBI Gene Summary',NULL,8886,NULL,'This gene encodes a protein component of the spliceosome that promotes the release of the lariat-intron during late-stage splicing through the recruitment of a pre-mRNA splicing factor called DEAH-box helicase 15. The encoded protein contains a G-patch domain, a hallmark of RNA-processing proteins, that binds DEAH-box helicase 15. This protein contains an atypical nuclear localization sequence as well as a nuclear speckle-targeting sequence, enabling it to localize to distinct speckled regions within the cell nucleus. Polymorphisms in this gene are associated with dental caries suggesting a role in amelogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(31474,'NCBI Gene PubMed Count',NULL,8886,NULL,NULL,NULL,39,NULL,NULL,NULL),(31475,'NCBI Gene Summary',NULL,8887,NULL,'This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(31476,'NCBI Gene PubMed Count',NULL,8887,NULL,NULL,NULL,30,NULL,NULL,NULL),(31477,'NCBI Gene Summary',NULL,8888,NULL,'This gene encodes a member of the DP family of transcription factors. These factors heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. This protein functions as a negative regulator and inhibits the DNA binding and transcriptional activities of E2F factors.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(31478,'NCBI Gene PubMed Count',NULL,8888,NULL,NULL,NULL,14,NULL,NULL,NULL),(31479,'NCBI Gene Summary',NULL,8889,NULL,'This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(31480,'NCBI Gene PubMed Count',NULL,8889,NULL,NULL,NULL,188,NULL,NULL,NULL),(31481,'NCBI Gene Summary',NULL,8890,NULL,'Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(31482,'NCBI Gene PubMed Count',NULL,8890,NULL,NULL,NULL,92,NULL,NULL,NULL),(31483,'NCBI Gene PubMed Count',NULL,8891,NULL,NULL,NULL,15,NULL,NULL,NULL),(31484,'NCBI Gene PubMed Count',NULL,8892,NULL,NULL,NULL,4,NULL,NULL,NULL),(31485,'NCBI Gene PubMed Count',NULL,8893,NULL,NULL,NULL,2,NULL,NULL,NULL),(31486,'NCBI Gene PubMed Count',NULL,8894,NULL,NULL,NULL,25,NULL,NULL,NULL),(31487,'NCBI Gene PubMed Count',NULL,8895,NULL,NULL,NULL,1,NULL,NULL,NULL),(31488,'NCBI Gene Summary',NULL,8896,NULL,'This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(31489,'NCBI Gene PubMed Count',NULL,8896,NULL,NULL,NULL,4,NULL,NULL,NULL),(31490,'NCBI Gene Summary',NULL,8897,NULL,'This gene encodes a molecular chaperone that is a member of the chaperonin-containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(31491,'NCBI Gene PubMed Count',NULL,8897,NULL,NULL,NULL,11,NULL,NULL,NULL),(31492,'NCBI Gene Summary',NULL,8898,NULL,'DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(31493,'NCBI Gene PubMed Count',NULL,8898,NULL,NULL,NULL,15,NULL,NULL,NULL),(31494,'NCBI Gene Summary',NULL,8899,NULL,'This gene encodes a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(31495,'NCBI Gene PubMed Count',NULL,8899,NULL,NULL,NULL,23,NULL,NULL,NULL),(31496,'NCBI Gene Summary',NULL,8900,NULL,'This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(31497,'NCBI Gene PubMed Count',NULL,8900,NULL,NULL,NULL,18,NULL,NULL,NULL),(31498,'NCBI Gene PubMed Count',NULL,8901,NULL,NULL,NULL,3,NULL,NULL,NULL),(31499,'NCBI Gene PubMed Count',NULL,8902,NULL,NULL,NULL,6,NULL,NULL,NULL),(31500,'NCBI Gene Summary',NULL,8903,NULL,'This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(31501,'NCBI Gene PubMed Count',NULL,8903,NULL,NULL,NULL,125,NULL,NULL,NULL),(31502,'NCBI Gene Summary',NULL,8904,NULL,'Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. The encoded protein inhibits gastric acid secretion. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31503,'NCBI Gene PubMed Count',NULL,8904,NULL,NULL,NULL,73,NULL,NULL,NULL),(31504,'NCBI Gene Summary',NULL,8905,NULL,'The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(31505,'NCBI Gene PubMed Count',NULL,8905,NULL,NULL,NULL,14,NULL,NULL,NULL),(31506,'NCBI Gene PubMed Count',NULL,8906,NULL,NULL,NULL,35,NULL,NULL,NULL),(31507,'NCBI Gene Summary',NULL,8907,NULL,'This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(31508,'NCBI Gene PubMed Count',NULL,8907,NULL,NULL,NULL,10,NULL,NULL,NULL),(31509,'NCBI Gene PubMed Count',NULL,8908,NULL,NULL,NULL,10,NULL,NULL,NULL),(31510,'NCBI Gene Summary',NULL,8909,NULL,'Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31511,'NCBI Gene PubMed Count',NULL,8909,NULL,NULL,NULL,22,NULL,NULL,NULL),(31512,'NCBI Gene Summary',NULL,8910,NULL,'The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31513,'NCBI Gene PubMed Count',NULL,8910,NULL,NULL,NULL,33,NULL,NULL,NULL),(31514,'NCBI Gene Summary',NULL,8911,NULL,'Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain glutathione at a reduced state and thus protect sulfhydryl groups and cellular integrity from oxygen radicals. The functional gene of transaldolase 1 is located on chromosome 11 and a pseudogene is identified on chromosome 1 but there are conflicting map locations. The second and third exon of this gene were developed by insertion of a retrotransposable element. This gene is thought to be involved in multiple sclerosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31515,'NCBI Gene PubMed Count',NULL,8911,NULL,NULL,NULL,39,NULL,NULL,NULL),(31516,'NCBI Gene Summary',NULL,8912,NULL,'This gene encodes a serine/threonine protein kinase that is involved in many different processes, including, cell signaling, microtubule organization and stability, and apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(31517,'NCBI Gene PubMed Count',NULL,8912,NULL,NULL,NULL,27,NULL,NULL,NULL),(31518,'NCBI Gene Summary',NULL,8913,NULL,'This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(31519,'NCBI Gene PubMed Count',NULL,8913,NULL,NULL,NULL,34,NULL,NULL,NULL),(31520,'NCBI Gene Summary',NULL,8914,NULL,'The protein encoded by this gene is a serine/threonine protein kinase that activates the p38/MAPK14 stress-activated MAPK cascade but inhibits the basal activity of the MAPK8/JNK cascade. The encoded protein is a member of the GCK subfamily of STE20-like kinases. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(31521,'NCBI Gene PubMed Count',NULL,8914,NULL,NULL,NULL,16,NULL,NULL,NULL),(31522,'NCBI Gene Summary',NULL,8915,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(31523,'NCBI Gene PubMed Count',NULL,8915,NULL,NULL,NULL,232,NULL,NULL,NULL),(31524,'NCBI Gene Summary',NULL,8916,NULL,'Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(31525,'NCBI Gene PubMed Count',NULL,8916,NULL,NULL,NULL,92,NULL,NULL,NULL),(31526,'NCBI Gene PubMed Count',NULL,8917,NULL,NULL,NULL,12,NULL,NULL,NULL),(31527,'NCBI Gene PubMed Count',NULL,8918,NULL,NULL,NULL,58,NULL,NULL,NULL),(31528,'NCBI Gene Summary',NULL,8919,NULL,'This locus represents naturally occurring readthrough transcription between the neighboring TBC1D7 (TBC1 domain family member 7) gene and downstream uncharacterized LOC100130357 on chromosome 6. Readthrough transcripts may encode the same protein as TBC1 domain family member 7 or may be candidates for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(31529,'NCBI Gene PubMed Count',NULL,8919,NULL,NULL,NULL,14,NULL,NULL,NULL),(31530,'NCBI Gene PubMed Count',NULL,8920,NULL,NULL,NULL,4,NULL,NULL,NULL),(31531,'NCBI Gene PubMed Count',NULL,8921,NULL,NULL,NULL,11,NULL,NULL,NULL),(31532,'NCBI Gene Summary',NULL,8922,NULL,'This gene encodes the theta subunit of the CCT chaperonin, which is abundant in the eukaryotic cytosol and may be involved in the transport and assembly of newly synthesized proteins. Alternative splicing results in multiple transcript variants of this gene. A pseudogene related to this gene is located on chromosome 1. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(31533,'NCBI Gene PubMed Count',NULL,8922,NULL,NULL,NULL,36,NULL,NULL,NULL),(31534,'NCBI Gene PubMed Count',NULL,8923,NULL,NULL,NULL,2,NULL,NULL,NULL),(31535,'NCBI Gene PubMed Count',NULL,8924,NULL,NULL,NULL,40,NULL,NULL,NULL),(31536,'NCBI Gene Summary',NULL,8925,NULL,'The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31537,'NCBI Gene PubMed Count',NULL,8925,NULL,NULL,NULL,85,NULL,NULL,NULL),(31538,'NCBI Gene PubMed Count',NULL,8926,NULL,NULL,NULL,16,NULL,NULL,NULL),(31539,'NCBI Gene PubMed Count',NULL,8927,NULL,NULL,NULL,13,NULL,NULL,NULL),(31540,'NCBI Gene PubMed Count',NULL,8928,NULL,NULL,NULL,14,NULL,NULL,NULL),(31541,'NCBI Gene PubMed Count',NULL,8929,NULL,NULL,NULL,13,NULL,NULL,NULL),(31542,'NCBI Gene PubMed Count',NULL,8930,NULL,NULL,NULL,10,NULL,NULL,NULL),(31543,'NCBI Gene Summary',NULL,8931,NULL,'This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(31544,'NCBI Gene PubMed Count',NULL,8931,NULL,NULL,NULL,40,NULL,NULL,NULL),(31545,'NCBI Gene Summary',NULL,8932,NULL,'The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(31546,'NCBI Gene PubMed Count',NULL,8932,NULL,NULL,NULL,411,NULL,NULL,NULL),(31547,'NCBI Gene Summary',NULL,8933,NULL,'The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(31548,'NCBI Gene PubMed Count',NULL,8933,NULL,NULL,NULL,464,NULL,NULL,NULL),(31549,'NCBI Gene PubMed Count',NULL,8934,NULL,NULL,NULL,116,NULL,NULL,NULL),(31550,'NCBI Gene PubMed Count',NULL,8935,NULL,NULL,NULL,8,NULL,NULL,NULL),(31551,'NCBI Gene Summary',NULL,8936,NULL,'Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(31552,'NCBI Gene PubMed Count',NULL,8936,NULL,NULL,NULL,13,NULL,NULL,NULL),(31553,'NCBI Gene Summary',NULL,8937,NULL,'This gene encodes a protein with a TBC domain and functions as a Rab GTPase activating protein. The encoded protein is involved in the fusion of autophagosomes with endosomes and lysosomes. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(31554,'NCBI Gene PubMed Count',NULL,8937,NULL,NULL,NULL,13,NULL,NULL,NULL),(31555,'NCBI Gene PubMed Count',NULL,8938,NULL,NULL,NULL,7,NULL,NULL,NULL),(31556,'NCBI Gene PubMed Count',NULL,8939,NULL,NULL,NULL,17,NULL,NULL,NULL),(31557,'NCBI Gene PubMed Count',NULL,8940,NULL,NULL,NULL,8,NULL,NULL,NULL),(31558,'NCBI Gene Summary',NULL,8941,NULL,'This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(31559,'NCBI Gene PubMed Count',NULL,8941,NULL,NULL,NULL,87,NULL,NULL,NULL),(31560,'NCBI Gene Summary',NULL,8942,NULL,'The protein encoded by this gene belongs to the glucagon family. It stimulates myocardial contractility, causes vasodilation, increases glycogenolysis, lowers arterial blood pressure and relaxes the smooth muscle of trachea, stomach and gall bladder. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(31561,'NCBI Gene PubMed Count',NULL,8942,NULL,NULL,NULL,138,NULL,NULL,NULL),(31562,'NCBI Gene PubMed Count',NULL,8943,NULL,NULL,NULL,10,NULL,NULL,NULL),(31563,'NCBI Gene Summary',NULL,8944,NULL,'The product of this gene is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. This gene encodes chaperonin cofactor A. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(31564,'NCBI Gene PubMed Count',NULL,8944,NULL,NULL,NULL,17,NULL,NULL,NULL),(31565,'NCBI Gene Summary',NULL,8945,NULL,'The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, three pseudogenes that appear to be derived from this gene have been found. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(31566,'NCBI Gene PubMed Count',NULL,8945,NULL,NULL,NULL,78,NULL,NULL,NULL),(31567,'NCBI Gene PubMed Count',NULL,8946,NULL,NULL,NULL,5,NULL,NULL,NULL),(31568,'NCBI Gene Summary',NULL,8947,NULL,'The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31569,'NCBI Gene PubMed Count',NULL,8947,NULL,NULL,NULL,20,NULL,NULL,NULL),(31570,'NCBI Gene Summary',NULL,8948,NULL,'This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(31571,'NCBI Gene PubMed Count',NULL,8948,NULL,NULL,NULL,93,NULL,NULL,NULL),(31572,'NCBI Gene Summary',NULL,8949,NULL,'The TDGF3 locus has characteristics of a retrotransposon, including lack of introns and a poly(A) sequence. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31573,'NCBI Gene PubMed Count',NULL,8949,NULL,NULL,NULL,5,NULL,NULL,NULL),(31574,'NCBI Gene Summary',NULL,8950,NULL,'This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. The encoded protein is similar to transcription elongation factor A/transcription factor SII and contains a zinc finger-like motif as well as a sequence related to the transcription factor SII Pol II-binding region. It may exert its effects via protein-protein interactions with other transcriptional regulators rather than via direct binding of DNA. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31575,'NCBI Gene PubMed Count',NULL,8950,NULL,NULL,NULL,21,NULL,NULL,NULL),(31576,'NCBI Gene Summary',NULL,8951,NULL,'This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31577,'NCBI Gene PubMed Count',NULL,8951,NULL,NULL,NULL,8,NULL,NULL,NULL),(31578,'NCBI Gene Summary',NULL,8952,NULL,'This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(31579,'NCBI Gene PubMed Count',NULL,8952,NULL,NULL,NULL,13,NULL,NULL,NULL),(31580,'NCBI Gene Summary',NULL,8953,NULL,'The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belongs to the steroid 5-alpha reductase family. Mutations in this gene result in ventricular tachycardia, catecholaminergic polymorphic, 3. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(31581,'NCBI Gene PubMed Count',NULL,8953,NULL,NULL,NULL,9,NULL,NULL,NULL),(31582,'NCBI Gene Summary',NULL,8954,NULL,'This gene encodes a large transmembrane protein that may be involved in the regulation of neuronal development. Mutation in this gene causes microphthalmia. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(31583,'NCBI Gene PubMed Count',NULL,8954,NULL,NULL,NULL,21,NULL,NULL,NULL),(31584,'NCBI Gene PubMed Count',NULL,8955,NULL,NULL,NULL,36,NULL,NULL,NULL),(31585,'NCBI Gene Summary',NULL,8956,NULL,'The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(31586,'NCBI Gene PubMed Count',NULL,8956,NULL,NULL,NULL,22,NULL,NULL,NULL),(31587,'NCBI Gene Summary',NULL,8957,NULL,'This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(31588,'NCBI Gene PubMed Count',NULL,8957,NULL,NULL,NULL,14,NULL,NULL,NULL),(31589,'NCBI Gene PubMed Count',NULL,8958,NULL,NULL,NULL,4,NULL,NULL,NULL),(31590,'NCBI Gene Summary',NULL,8959,NULL,'This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. The C-terminus of this protein is divergent from that of its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator of TGIF2LX. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31591,'NCBI Gene PubMed Count',NULL,8959,NULL,NULL,NULL,7,NULL,NULL,NULL),(31592,'NCBI Gene Summary',NULL,8960,NULL,'Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer, and affect healing of the epithelium. This gene, which is expressed in the gastric mucosa, has also been studied because of its expression in human tumors. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31593,'NCBI Gene PubMed Count',NULL,8960,NULL,NULL,NULL,142,NULL,NULL,NULL),(31594,'NCBI Gene Summary',NULL,8961,NULL,'The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31595,'NCBI Gene PubMed Count',NULL,8961,NULL,NULL,NULL,81,NULL,NULL,NULL),(31596,'NCBI Gene PubMed Count',NULL,8962,NULL,NULL,NULL,10,NULL,NULL,NULL),(31597,'NCBI Gene PubMed Count',NULL,8963,NULL,NULL,NULL,7,NULL,NULL,NULL),(31598,'NCBI Gene Summary',NULL,8964,NULL,'This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(31599,'NCBI Gene PubMed Count',NULL,8964,NULL,NULL,NULL,21,NULL,NULL,NULL),(31600,'NCBI Gene Summary',NULL,8965,NULL,'This intronless gene encodes a helix-loop-helix protein. Translocations between this gene on chromosome 9 and the T-cell receptor beta-chain locus on chromosome 7 have been associated with activation of the T-cell acute lymphocytic leukemia 2 gene and T-cell acute lymphoblastic leukemia. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(31601,'NCBI Gene PubMed Count',NULL,8965,NULL,NULL,NULL,16,NULL,NULL,NULL),(31602,'NCBI Gene Summary',NULL,8966,NULL,'This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(31603,'NCBI Gene PubMed Count',NULL,8966,NULL,NULL,NULL,44,NULL,NULL,NULL),(31604,'NCBI Gene PubMed Count',NULL,8967,NULL,NULL,NULL,8,NULL,NULL,NULL),(31605,'NCBI Gene PubMed Count',NULL,8968,NULL,NULL,NULL,13,NULL,NULL,NULL),(31606,'NCBI Gene Summary',NULL,8969,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(31607,'NCBI Gene PubMed Count',NULL,8969,NULL,NULL,NULL,191,NULL,NULL,NULL),(31608,'NCBI Gene PubMed Count',NULL,8970,NULL,NULL,NULL,7,NULL,NULL,NULL),(31609,'NCBI Gene PubMed Count',NULL,8971,NULL,NULL,NULL,15,NULL,NULL,NULL),(31610,'NCBI Gene Summary',NULL,8972,NULL,'Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31611,'NCBI Gene PubMed Count',NULL,8972,NULL,NULL,NULL,10,NULL,NULL,NULL),(31612,'NCBI Gene Summary',NULL,8973,NULL,'This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(31613,'NCBI Gene PubMed Count',NULL,8973,NULL,NULL,NULL,5,NULL,NULL,NULL),(31614,'NCBI Gene Summary',NULL,8974,NULL,'This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase signaling and vesicle trafficking. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(31615,'NCBI Gene PubMed Count',NULL,8974,NULL,NULL,NULL,5,NULL,NULL,NULL),(31616,'NCBI Gene PubMed Count',NULL,8975,NULL,NULL,NULL,1,NULL,NULL,NULL),(31617,'NCBI Gene Summary',NULL,8976,NULL,'Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a commom fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. This protein is a negative regulator of cell growth and may act as a tumor suppressor. This scaffold protein may also play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Multiple protein isoforms are encoded by transcript variants of this gene.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(31618,'NCBI Gene PubMed Count',NULL,8976,NULL,NULL,NULL,47,NULL,NULL,NULL),(31619,'NCBI Gene Summary',NULL,8977,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters\' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(31620,'NCBI Gene PubMed Count',NULL,8977,NULL,NULL,NULL,286,NULL,NULL,NULL),(31621,'NCBI Gene Summary',NULL,8978,NULL,'Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. This gene is expressed in goblet cells of the intestines and colon. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31622,'NCBI Gene PubMed Count',NULL,8978,NULL,NULL,NULL,139,NULL,NULL,NULL),(31623,'NCBI Gene Summary',NULL,8979,NULL,'Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31624,'NCBI Gene PubMed Count',NULL,8979,NULL,NULL,NULL,57,NULL,NULL,NULL),(31625,'NCBI Gene PubMed Count',NULL,8980,NULL,NULL,NULL,12,NULL,NULL,NULL),(31626,'NCBI Gene PubMed Count',NULL,8981,NULL,NULL,NULL,15,NULL,NULL,NULL),(31627,'NCBI Gene PubMed Count',NULL,8982,NULL,NULL,NULL,7,NULL,NULL,NULL),(31628,'NCBI Gene PubMed Count',NULL,8983,NULL,NULL,NULL,4,NULL,NULL,NULL),(31629,'NCBI Gene Summary',NULL,8984,NULL,'This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(31630,'NCBI Gene PubMed Count',NULL,8984,NULL,NULL,NULL,277,NULL,NULL,NULL),(31631,'NCBI Gene Summary',NULL,8985,NULL,'This gene encodes a member of a family of proteins sharing an N-terminal Thanatos-associated domain. The Thanatos-associated domain contains a zinc finger signature similar to DNA-binding domains. This gene is part of a bidirectional gene pair on the long arm of chromosome 15 that is regulated by estrogen and may play a role in breast cancer. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(31632,'NCBI Gene PubMed Count',NULL,8985,NULL,NULL,NULL,10,NULL,NULL,NULL),(31633,'NCBI Gene Summary',NULL,8986,NULL,'This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31634,'NCBI Gene PubMed Count',NULL,8986,NULL,NULL,NULL,36,NULL,NULL,NULL),(31635,'NCBI Gene Summary',NULL,8987,NULL,'This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31636,'NCBI Gene PubMed Count',NULL,8987,NULL,NULL,NULL,39,NULL,NULL,NULL),(31637,'NCBI Gene PubMed Count',NULL,8989,NULL,NULL,NULL,12,NULL,NULL,NULL),(31638,'NCBI Gene PubMed Count',NULL,8990,NULL,NULL,NULL,16,NULL,NULL,NULL),(31639,'NCBI Gene Summary',NULL,8991,NULL,'The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31640,'NCBI Gene PubMed Count',NULL,8991,NULL,NULL,NULL,6,NULL,NULL,NULL),(31641,'NCBI Gene Summary',NULL,8992,NULL,'The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(31642,'NCBI Gene PubMed Count',NULL,8992,NULL,NULL,NULL,21,NULL,NULL,NULL),(31643,'NCBI Gene Summary',NULL,8993,NULL,'TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(31644,'NCBI Gene PubMed Count',NULL,8993,NULL,NULL,NULL,16,NULL,NULL,NULL),(31645,'NCBI Gene PubMed Count',NULL,8994,NULL,NULL,NULL,4,NULL,NULL,NULL),(31646,'NCBI Gene PubMed Count',NULL,8995,NULL,NULL,NULL,16,NULL,NULL,NULL),(31647,'NCBI Gene Summary',NULL,8996,NULL,'This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(31648,'NCBI Gene PubMed Count',NULL,8996,NULL,NULL,NULL,13,NULL,NULL,NULL),(31649,'NCBI Gene Summary',NULL,8997,NULL,'This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene\'s expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(31650,'NCBI Gene PubMed Count',NULL,8997,NULL,NULL,NULL,16,NULL,NULL,NULL),(31651,'NCBI Gene PubMed Count',NULL,8998,NULL,NULL,NULL,6,NULL,NULL,NULL),(31652,'NCBI Gene PubMed Count',NULL,8999,NULL,NULL,NULL,6,NULL,NULL,NULL),(31653,'NCBI Gene Summary',NULL,9000,NULL,'This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(31654,'NCBI Gene PubMed Count',NULL,9000,NULL,NULL,NULL,10,NULL,NULL,NULL),(31655,'NCBI Gene PubMed Count',NULL,9001,NULL,NULL,NULL,9,NULL,NULL,NULL),(31656,'NCBI Gene PubMed Count',NULL,9002,NULL,NULL,NULL,8,NULL,NULL,NULL),(31657,'NCBI Gene PubMed Count',NULL,9003,NULL,NULL,NULL,7,NULL,NULL,NULL),(31658,'NCBI Gene PubMed Count',NULL,9004,NULL,NULL,NULL,0,NULL,NULL,NULL),(31659,'NCBI Gene Summary',NULL,9005,NULL,'The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) in some human cells. The encoded protein shares some homology with the yeast protein Vma12. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(31660,'NCBI Gene PubMed Count',NULL,9005,NULL,NULL,NULL,7,NULL,NULL,NULL),(31661,'NCBI Gene Summary',NULL,9006,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(31662,'NCBI Gene PubMed Count',NULL,9006,NULL,NULL,NULL,1082,NULL,NULL,NULL),(31663,'NCBI Gene Summary',NULL,9007,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31664,'NCBI Gene PubMed Count',NULL,9007,NULL,NULL,NULL,53,NULL,NULL,NULL),(31665,'NCBI Gene Summary',NULL,9008,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31666,'NCBI Gene PubMed Count',NULL,9008,NULL,NULL,NULL,30,NULL,NULL,NULL),(31667,'NCBI Gene Summary',NULL,9009,NULL,'This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(31668,'NCBI Gene PubMed Count',NULL,9009,NULL,NULL,NULL,79,NULL,NULL,NULL),(31669,'NCBI Gene Summary',NULL,9010,NULL,'Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31670,'NCBI Gene PubMed Count',NULL,9010,NULL,NULL,NULL,310,NULL,NULL,NULL),(31671,'NCBI Gene Summary',NULL,9011,NULL,'One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(31672,'NCBI Gene PubMed Count',NULL,9011,NULL,NULL,NULL,16,NULL,NULL,NULL),(31673,'NCBI Gene Summary',NULL,9012,NULL,'This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31674,'NCBI Gene PubMed Count',NULL,9012,NULL,NULL,NULL,64,NULL,NULL,NULL),(31675,'NCBI Gene Summary',NULL,9013,NULL,'This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(31676,'NCBI Gene PubMed Count',NULL,9013,NULL,NULL,NULL,26,NULL,NULL,NULL),(31677,'NCBI Gene Summary',NULL,9014,NULL,'In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31678,'NCBI Gene PubMed Count',NULL,9014,NULL,NULL,NULL,194,NULL,NULL,NULL),(31679,'NCBI Gene Summary',NULL,9015,NULL,'The protein encoded by this gene is a DNA-binding homeobox protein and a transcriptional repressor, which appears to repress transcription by recruiting histone deacetylases to TGF beta-responsive genes. This gene is amplified and over-expressed in some ovarian cancers. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. Read-through transcription also exists between this gene and the neighboring downstream C20orf24 (chromosome 20 open reading frame 24) gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(31680,'NCBI Gene PubMed Count',NULL,9015,NULL,NULL,NULL,28,NULL,NULL,NULL),(31681,'NCBI Gene Summary',NULL,9016,NULL,'The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(31682,'NCBI Gene PubMed Count',NULL,9016,NULL,NULL,NULL,288,NULL,NULL,NULL),(31683,'NCBI Gene Summary',NULL,9017,NULL,'This gene encodes a protein that is highly conserved among vertebrates and plant species and may be involved in the induction of apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31684,'NCBI Gene PubMed Count',NULL,9017,NULL,NULL,NULL,13,NULL,NULL,NULL),(31685,'NCBI Gene Summary',NULL,9018,NULL,'This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic, and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31686,'NCBI Gene PubMed Count',NULL,9018,NULL,NULL,NULL,18,NULL,NULL,NULL),(31687,'NCBI Gene Summary',NULL,9019,NULL,'The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31688,'NCBI Gene PubMed Count',NULL,9019,NULL,NULL,NULL,58,NULL,NULL,NULL),(31689,'NCBI Gene Summary',NULL,9020,NULL,'The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31690,'NCBI Gene PubMed Count',NULL,9020,NULL,NULL,NULL,4,NULL,NULL,NULL),(31691,'NCBI Gene Summary',NULL,9021,NULL,'This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(31692,'NCBI Gene PubMed Count',NULL,9021,NULL,NULL,NULL,12,NULL,NULL,NULL),(31693,'NCBI Gene Summary',NULL,9022,NULL,'This gene encodes the precursor of a peptide hormone that shares sequence similarity with the parathyroid hormone. This gene is expressed in various regions of the brain where it plays a role in the release of pituitary hormones, anxiety and nociception. The encoded precursor protein is proteolytically processed to generate the biologically active neuropeptide. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(31694,'NCBI Gene PubMed Count',NULL,9022,NULL,NULL,NULL,16,NULL,NULL,NULL),(31695,'NCBI Gene Summary',NULL,9023,NULL,'This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby\'s fundus dystrophy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31696,'NCBI Gene PubMed Count',NULL,9023,NULL,NULL,NULL,274,NULL,NULL,NULL),(31697,'NCBI Gene PubMed Count',NULL,9024,NULL,NULL,NULL,12,NULL,NULL,NULL),(31698,'NCBI Gene PubMed Count',NULL,9025,NULL,NULL,NULL,14,NULL,NULL,NULL),(31699,'NCBI Gene Summary',NULL,9026,NULL,'The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It may thus play a role in host defense against viruses. Use of alternative polyadenylation sites to generate different length transcripts has been noted for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31700,'NCBI Gene PubMed Count',NULL,9026,NULL,NULL,NULL,581,NULL,NULL,NULL),(31701,'NCBI Gene PubMed Count',NULL,9027,NULL,NULL,NULL,11,NULL,NULL,NULL),(31702,'NCBI Gene PubMed Count',NULL,9028,NULL,NULL,NULL,7,NULL,NULL,NULL),(31703,'NCBI Gene Summary',NULL,9029,NULL,'The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor has been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(31704,'NCBI Gene PubMed Count',NULL,9029,NULL,NULL,NULL,2179,NULL,NULL,NULL),(31705,'NCBI Gene Summary',NULL,9030,NULL,'The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31706,'NCBI Gene PubMed Count',NULL,9030,NULL,NULL,NULL,195,NULL,NULL,NULL),(31707,'NCBI Gene Summary',NULL,9031,NULL,'The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31708,'NCBI Gene PubMed Count',NULL,9031,NULL,NULL,NULL,24,NULL,NULL,NULL),(31709,'NCBI Gene Summary',NULL,9032,NULL,'The protein encoded by this gene belongs to the tensin family. Tensin is a focal adhesion molecule that binds to actin filaments and participates in signaling pathways. This protein plays a role in regulating cell migration. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31710,'NCBI Gene PubMed Count',NULL,9032,NULL,NULL,NULL,33,NULL,NULL,NULL),(31711,'NCBI Gene PubMed Count',NULL,9033,NULL,NULL,NULL,2,NULL,NULL,NULL),(31712,'NCBI Gene Summary',NULL,9034,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(31713,'NCBI Gene PubMed Count',NULL,9034,NULL,NULL,NULL,78,NULL,NULL,NULL),(31714,'NCBI Gene Summary',NULL,9035,NULL,'This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(31715,'NCBI Gene PubMed Count',NULL,9035,NULL,NULL,NULL,18,NULL,NULL,NULL),(31716,'NCBI Gene PubMed Count',NULL,9036,NULL,NULL,NULL,44,NULL,NULL,NULL),(31717,'NCBI Gene Summary',NULL,9037,NULL,'This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(31718,'NCBI Gene PubMed Count',NULL,9037,NULL,NULL,NULL,10,NULL,NULL,NULL),(31719,'NCBI Gene PubMed Count',NULL,9038,NULL,NULL,NULL,4,NULL,NULL,NULL),(31720,'NCBI Gene Summary',NULL,9039,NULL,'This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31721,'NCBI Gene PubMed Count',NULL,9039,NULL,NULL,NULL,23,NULL,NULL,NULL),(31722,'NCBI Gene PubMed Count',NULL,9040,NULL,NULL,NULL,13,NULL,NULL,NULL),(31723,'NCBI Gene Summary',NULL,9041,NULL,'The protein encoded by this gene is induced by cyclic mechanical stretching in trabecular cells of the eye and it is also expressed in retina. This protein may play a role in trabecular meshwork function and the development of glaucoma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31724,'NCBI Gene PubMed Count',NULL,9041,NULL,NULL,NULL,6,NULL,NULL,NULL),(31725,'NCBI Gene Summary',NULL,9042,NULL,'The TMEM181 gene encodes a putative G protein-coupled receptor expressed on the cell surface (Carette et al., 2009 [PubMed 19965467]; Wollscheid et al., 2009 [PubMed 19349973]).[supplied by OMIM, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(31726,'NCBI Gene PubMed Count',NULL,9042,NULL,NULL,NULL,11,NULL,NULL,NULL),(31727,'NCBI Gene PubMed Count',NULL,9043,NULL,NULL,NULL,8,NULL,NULL,NULL),(31728,'NCBI Gene Summary',NULL,9044,NULL,'This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(31729,'NCBI Gene PubMed Count',NULL,9044,NULL,NULL,NULL,13,NULL,NULL,NULL),(31730,'NCBI Gene Summary',NULL,9045,NULL,'This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(31731,'NCBI Gene PubMed Count',NULL,9045,NULL,NULL,NULL,28,NULL,NULL,NULL),(31732,'NCBI Gene Summary',NULL,9046,NULL,'The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(31733,'NCBI Gene PubMed Count',NULL,9046,NULL,NULL,NULL,25,NULL,NULL,NULL),(31734,'NCBI Gene Summary',NULL,9047,NULL,'This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(31735,'NCBI Gene PubMed Count',NULL,9047,NULL,NULL,NULL,520,NULL,NULL,NULL),(31736,'NCBI Gene Summary',NULL,9048,NULL,'This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31737,'NCBI Gene PubMed Count',NULL,9048,NULL,NULL,NULL,245,NULL,NULL,NULL),(31738,'NCBI Gene Summary',NULL,9049,NULL,'This gene encodes a member of a small class of prenylated protein tyrosine phosphatases (PTPs), which contain a PTP domain and a characteristic C-terminal prenylation motif. The encoded protein is a cell signaling molecule that plays regulatory roles in a variety of cellular processes, including cell proliferation and migration. The protein may also be involved in cancer development and metastasis. This tyrosine phosphatase is a nuclear protein, but may associate with plasma membrane by means of its prenylation motif. Pseudogenes related to this gene are located on chromosomes 1, 2, 5, 7, 11 and X. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(31739,'NCBI Gene PubMed Count',NULL,9049,NULL,NULL,NULL,56,NULL,NULL,NULL),(31740,'NCBI Gene Summary',NULL,9050,NULL,'This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(31741,'NCBI Gene PubMed Count',NULL,9050,NULL,NULL,NULL,15,NULL,NULL,NULL),(31742,'NCBI Gene Summary',NULL,9051,NULL,'This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(31743,'NCBI Gene PubMed Count',NULL,9051,NULL,NULL,NULL,17,NULL,NULL,NULL),(31744,'NCBI Gene Summary',NULL,9052,NULL,'The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins.  The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31745,'NCBI Gene PubMed Count',NULL,9052,NULL,NULL,NULL,140,NULL,NULL,NULL),(31746,'NCBI Gene Summary',NULL,9053,NULL,'The protein encoded by this gene is part of the replisome complex, a group of proteins that support DNA replication. It binds TIM, which is involved in circadian rhythm regulation, and aids in protecting cells against DNA damage and stress. Two pseudogenes and two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(31747,'NCBI Gene PubMed Count',NULL,9053,NULL,NULL,NULL,21,NULL,NULL,NULL),(31748,'NCBI Gene PubMed Count',NULL,9054,NULL,NULL,NULL,11,NULL,NULL,NULL),(31749,'NCBI Gene Summary',NULL,9055,NULL,'TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(31750,'NCBI Gene PubMed Count',NULL,9055,NULL,NULL,NULL,16,NULL,NULL,NULL),(31751,'NCBI Gene Summary',NULL,9056,NULL,'The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(31752,'NCBI Gene PubMed Count',NULL,9056,NULL,NULL,NULL,34,NULL,NULL,NULL),(31753,'NCBI Gene Summary',NULL,9057,NULL,'This gene encodes a member of the tachykinin family of secreted neuropeptides. The encoded preproprotein is proteolytically processed to generate the mature peptide, which is primarily expressed in the central and peripheral nervous systems and functions as a neurotransmitter. This peptide is the ligand for the neurokinin-3 receptor. This protein is also expressed in the outer syncytiotrophoblast of the placenta and may be associated with pregnancy-induced hypertension and pre-eclampsia. Mutations in this gene are associated with normosmic hypogonadotropic hypogonadism. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(31754,'NCBI Gene PubMed Count',NULL,9057,NULL,NULL,NULL,63,NULL,NULL,NULL),(31755,'NCBI Gene PubMed Count',NULL,9058,NULL,NULL,NULL,75,NULL,NULL,NULL),(31756,'NCBI Gene PubMed Count',NULL,9059,NULL,NULL,NULL,6,NULL,NULL,NULL),(31757,'NCBI Gene Summary',NULL,9060,NULL,'This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(31758,'NCBI Gene PubMed Count',NULL,9060,NULL,NULL,NULL,38,NULL,NULL,NULL),(31759,'NCBI Gene PubMed Count',NULL,9061,NULL,NULL,NULL,4,NULL,NULL,NULL),(31760,'NCBI Gene PubMed Count',NULL,9062,NULL,NULL,NULL,10,NULL,NULL,NULL),(31761,'NCBI Gene PubMed Count',NULL,9063,NULL,NULL,NULL,2,NULL,NULL,NULL),(31762,'NCBI Gene PubMed Count',NULL,9064,NULL,NULL,NULL,7,NULL,NULL,NULL),(31763,'NCBI Gene Summary',NULL,9065,NULL,'This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(31764,'NCBI Gene PubMed Count',NULL,9065,NULL,NULL,NULL,8,NULL,NULL,NULL),(31765,'NCBI Gene PubMed Count',NULL,9066,NULL,NULL,NULL,7,NULL,NULL,NULL),(31766,'NCBI Gene PubMed Count',NULL,9067,NULL,NULL,NULL,10,NULL,NULL,NULL),(31767,'NCBI Gene Summary',NULL,9068,NULL,'This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(31768,'NCBI Gene PubMed Count',NULL,9068,NULL,NULL,NULL,208,NULL,NULL,NULL),(31769,'NCBI Gene PubMed Count',NULL,9069,NULL,NULL,NULL,29,NULL,NULL,NULL),(31770,'NCBI Gene PubMed Count',NULL,9070,NULL,NULL,NULL,4,NULL,NULL,NULL),(31771,'NCBI Gene Summary',NULL,9071,NULL,'Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31772,'NCBI Gene PubMed Count',NULL,9071,NULL,NULL,NULL,16,NULL,NULL,NULL),(31773,'NCBI Gene Summary',NULL,9072,NULL,'The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(31774,'NCBI Gene PubMed Count',NULL,9072,NULL,NULL,NULL,34,NULL,NULL,NULL),(31775,'NCBI Gene PubMed Count',NULL,9073,NULL,NULL,NULL,7,NULL,NULL,NULL),(31776,'NCBI Gene Summary',NULL,9074,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31777,'NCBI Gene PubMed Count',NULL,9074,NULL,NULL,NULL,115,NULL,NULL,NULL),(31778,'NCBI Gene Summary',NULL,9075,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31779,'NCBI Gene PubMed Count',NULL,9075,NULL,NULL,NULL,431,NULL,NULL,NULL),(31780,'NCBI Gene Summary',NULL,9076,NULL,'This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(31781,'NCBI Gene PubMed Count',NULL,9076,NULL,NULL,NULL,21,NULL,NULL,NULL),(31782,'NCBI Gene Summary',NULL,9077,NULL,'This gene has evolved in primates as a fusion of two ancestral neighboring genes, Lrrc51 and Tomt, which exist as two independent genes in rodents. The fusion gene contains some shared exons, but encodes structurally unrelated proteins, LRTOMT1 and LRTOMT2. Those variants that utilize the more centromere-proximal 3\' terminal exon (short transcript form) encode LRTOMT1, while those variants that use a more centromere-distal 3\' terminal exon (long transcript form) encode the LRTOMT2 protein. There is a small region within one of the exons of this gene that contains overlapping alternate reading frames for both LRTOMT1 and LRTOMT2. LRTOMT1 shares similarity with the protein encoded by mouse Lrrc51, while LRTOMT2 shares similarity with the protein encoded by mouse Tomt. Alternative splicing results in multiple transcript variants, encoding different isoforms of both LRTOMT1 and LRTOMT2. The LRTOMT1 protein is a leucine-rich repeat-containing protein, while the LRTOMT2 protein is a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated with nonsyndromic deafness. [provided by RefSeq, Nov 2017]',NULL,NULL,NULL,NULL,NULL),(31783,'NCBI Gene PubMed Count',NULL,9077,NULL,NULL,NULL,13,NULL,NULL,NULL),(31784,'NCBI Gene Summary',NULL,9078,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31785,'NCBI Gene PubMed Count',NULL,9078,NULL,NULL,NULL,101,NULL,NULL,NULL),(31786,'NCBI Gene Summary',NULL,9079,NULL,'This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(31787,'NCBI Gene PubMed Count',NULL,9079,NULL,NULL,NULL,368,NULL,NULL,NULL),(31788,'NCBI Gene Summary',NULL,9080,NULL,'This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(31789,'NCBI Gene PubMed Count',NULL,9080,NULL,NULL,NULL,16,NULL,NULL,NULL),(31790,'NCBI Gene PubMed Count',NULL,9081,NULL,NULL,NULL,13,NULL,NULL,NULL),(31791,'NCBI Gene PubMed Count',NULL,9082,NULL,NULL,NULL,9,NULL,NULL,NULL),(31792,'NCBI Gene Summary',NULL,9083,NULL,'Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(31793,'NCBI Gene PubMed Count',NULL,9083,NULL,NULL,NULL,26,NULL,NULL,NULL),(31794,'NCBI Gene Summary',NULL,9084,NULL,'This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(31795,'NCBI Gene PubMed Count',NULL,9084,NULL,NULL,NULL,78,NULL,NULL,NULL),(31796,'NCBI Gene Summary',NULL,9085,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracellular death domain. This receptor can be activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L), and transduces an apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. Two transcript variants encoding different isoforms and one non-coding transcript have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(31797,'NCBI Gene PubMed Count',NULL,9085,NULL,NULL,NULL,316,NULL,NULL,NULL),(31798,'NCBI Gene PubMed Count',NULL,9086,NULL,NULL,NULL,15,NULL,NULL,NULL),(31799,'NCBI Gene Summary',NULL,9087,NULL,'HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 142560).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(31800,'NCBI Gene PubMed Count',NULL,9087,NULL,NULL,NULL,40,NULL,NULL,NULL),(31801,'NCBI Gene Summary',NULL,9088,NULL,'The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(31802,'NCBI Gene PubMed Count',NULL,9088,NULL,NULL,NULL,34,NULL,NULL,NULL),(31803,'NCBI Gene Summary',NULL,9089,NULL,'This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(31804,'NCBI Gene PubMed Count',NULL,9089,NULL,NULL,NULL,239,NULL,NULL,NULL),(31805,'NCBI Gene Summary',NULL,9090,NULL,'The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31806,'NCBI Gene PubMed Count',NULL,9090,NULL,NULL,NULL,5,NULL,NULL,NULL),(31807,'NCBI Gene Summary',NULL,9091,NULL,'The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31808,'NCBI Gene PubMed Count',NULL,9091,NULL,NULL,NULL,23,NULL,NULL,NULL),(31809,'NCBI Gene Summary',NULL,9092,NULL,'The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(31810,'NCBI Gene PubMed Count',NULL,9092,NULL,NULL,NULL,16,NULL,NULL,NULL),(31811,'NCBI Gene PubMed Count',NULL,9093,NULL,NULL,NULL,4,NULL,NULL,NULL),(31812,'NCBI Gene Summary',NULL,9094,NULL,'This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(31813,'NCBI Gene PubMed Count',NULL,9094,NULL,NULL,NULL,41,NULL,NULL,NULL),(31814,'NCBI Gene Summary',NULL,9095,NULL,'This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Substance P is an antimicrobial peptide with antibacterial and antifungal properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(31815,'NCBI Gene PubMed Count',NULL,9095,NULL,NULL,NULL,197,NULL,NULL,NULL),(31816,'NCBI Gene PubMed Count',NULL,9096,NULL,NULL,NULL,16,NULL,NULL,NULL),(31817,'NCBI Gene PubMed Count',NULL,9097,NULL,NULL,NULL,5,NULL,NULL,NULL),(31818,'NCBI Gene PubMed Count',NULL,9098,NULL,NULL,NULL,13,NULL,NULL,NULL),(31819,'NCBI Gene PubMed Count',NULL,9099,NULL,NULL,NULL,2,NULL,NULL,NULL),(31820,'NCBI Gene PubMed Count',NULL,9100,NULL,NULL,NULL,4,NULL,NULL,NULL),(31821,'NCBI Gene PubMed Count',NULL,9101,NULL,NULL,NULL,8,NULL,NULL,NULL),(31822,'NCBI Gene Summary',NULL,9102,NULL,'This gene encodes a potential transmembrane protein. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(31823,'NCBI Gene PubMed Count',NULL,9102,NULL,NULL,NULL,6,NULL,NULL,NULL),(31824,'NCBI Gene PubMed Count',NULL,9103,NULL,NULL,NULL,8,NULL,NULL,NULL),(31825,'NCBI Gene PubMed Count',NULL,9104,NULL,NULL,NULL,11,NULL,NULL,NULL),(31826,'NCBI Gene PubMed Count',NULL,9105,NULL,NULL,NULL,6,NULL,NULL,NULL),(31827,'NCBI Gene PubMed Count',NULL,9106,NULL,NULL,NULL,9,NULL,NULL,NULL),(31828,'NCBI Gene PubMed Count',NULL,9107,NULL,NULL,NULL,1,NULL,NULL,NULL),(31829,'NCBI Gene Summary',NULL,9108,NULL,'The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31830,'NCBI Gene PubMed Count',NULL,9108,NULL,NULL,NULL,59,NULL,NULL,NULL),(31831,'NCBI Gene Summary',NULL,9109,NULL,'This gene encodes a cell surface glycoprotein and member of the immunoglobulin superfamily of proteins. The encoded protein is involved in cell adhesion and cell communication in numerous cell types, but particularly in cells of the immune and nervous systems. The encoded protein is widely used as a marker for hematopoietic stem cells. This gene may function as a tumor suppressor in nasopharyngeal carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(31832,'NCBI Gene PubMed Count',NULL,9109,NULL,NULL,NULL,185,NULL,NULL,NULL),(31833,'NCBI Gene Summary',NULL,9110,NULL,'This gene encodes an adapter protein involved in adaptive and innate immunity. This protein includes a forkhead-associated (FHA) domain that specifically binds to phosphorylated serine and threonine residues. In response to bacterial infection, the encoded host cell protein undergoes an intermolecular interaction between the FHA domain and a phosphorylated threonine that leads to protein oligomerization and stimulation of the NF-kappa B and other downstream signaling pathways. This protein exhibits reduced expression in hepatocellular carcinoma and may suppress hepatocellular carcinoma progression. This protein may also play a role in the DNA damage response. [provided by RefSeq, Jun 2018]',NULL,NULL,NULL,NULL,NULL),(31834,'NCBI Gene PubMed Count',NULL,9110,NULL,NULL,NULL,29,NULL,NULL,NULL),(31835,'NCBI Gene Summary',NULL,9111,NULL,'This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31836,'NCBI Gene PubMed Count',NULL,9111,NULL,NULL,NULL,49,NULL,NULL,NULL),(31837,'NCBI Gene Summary',NULL,9112,NULL,'This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31838,'NCBI Gene PubMed Count',NULL,9112,NULL,NULL,NULL,612,NULL,NULL,NULL),(31839,'NCBI Gene PubMed Count',NULL,9113,NULL,NULL,NULL,10,NULL,NULL,NULL),(31840,'NCBI Gene PubMed Count',NULL,9114,NULL,NULL,NULL,8,NULL,NULL,NULL),(31841,'NCBI Gene PubMed Count',NULL,9115,NULL,NULL,NULL,1,NULL,NULL,NULL),(31842,'NCBI Gene PubMed Count',NULL,9116,NULL,NULL,NULL,12,NULL,NULL,NULL),(31843,'NCBI Gene PubMed Count',NULL,9117,NULL,NULL,NULL,12,NULL,NULL,NULL),(31844,'NCBI Gene PubMed Count',NULL,9118,NULL,NULL,NULL,8,NULL,NULL,NULL),(31845,'NCBI Gene PubMed Count',NULL,9119,NULL,NULL,NULL,3,NULL,NULL,NULL),(31846,'NCBI Gene PubMed Count',NULL,9120,NULL,NULL,NULL,5,NULL,NULL,NULL),(31847,'NCBI Gene Summary',NULL,9121,NULL,'This gene encodes a member of the TNF-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(31848,'NCBI Gene PubMed Count',NULL,9121,NULL,NULL,NULL,54,NULL,NULL,NULL),(31849,'NCBI Gene Summary',NULL,9122,NULL,'The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31850,'NCBI Gene PubMed Count',NULL,9122,NULL,NULL,NULL,22,NULL,NULL,NULL),(31851,'NCBI Gene Summary',NULL,9123,NULL,'The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(31852,'NCBI Gene PubMed Count',NULL,9123,NULL,NULL,NULL,15,NULL,NULL,NULL),(31853,'NCBI Gene PubMed Count',NULL,9124,NULL,NULL,NULL,9,NULL,NULL,NULL),(31854,'NCBI Gene Summary',NULL,9125,NULL,'This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(31855,'NCBI Gene PubMed Count',NULL,9125,NULL,NULL,NULL,12,NULL,NULL,NULL),(31856,'NCBI Gene Summary',NULL,9126,NULL,'TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(31857,'NCBI Gene PubMed Count',NULL,9126,NULL,NULL,NULL,16,NULL,NULL,NULL),(31858,'NCBI Gene Summary',NULL,9127,NULL,'This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31859,'NCBI Gene PubMed Count',NULL,9127,NULL,NULL,NULL,41,NULL,NULL,NULL),(31860,'NCBI Gene PubMed Count',NULL,9128,NULL,NULL,NULL,14,NULL,NULL,NULL),(31861,'NCBI Gene Summary',NULL,9129,NULL,'This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31862,'NCBI Gene PubMed Count',NULL,9129,NULL,NULL,NULL,60,NULL,NULL,NULL),(31863,'NCBI Gene PubMed Count',NULL,9130,NULL,NULL,NULL,7,NULL,NULL,NULL),(31864,'NCBI Gene Summary',NULL,9131,NULL,'This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer\'s and Parkinson\'s diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(31865,'NCBI Gene PubMed Count',NULL,9131,NULL,NULL,NULL,162,NULL,NULL,NULL),(31866,'NCBI Gene PubMed Count',NULL,9132,NULL,NULL,NULL,12,NULL,NULL,NULL),(31867,'NCBI Gene Summary',NULL,9133,NULL,'The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31868,'NCBI Gene PubMed Count',NULL,9133,NULL,NULL,NULL,141,NULL,NULL,NULL),(31869,'NCBI Gene Summary',NULL,9134,NULL,'The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31870,'NCBI Gene PubMed Count',NULL,9134,NULL,NULL,NULL,17,NULL,NULL,NULL),(31871,'NCBI Gene Summary',NULL,9135,NULL,'The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(31872,'NCBI Gene PubMed Count',NULL,9135,NULL,NULL,NULL,14,NULL,NULL,NULL),(31873,'NCBI Gene Summary',NULL,9136,NULL,'This is one of two neighboring genes encoding similar proteins that each contain two rhodanese domains. The encoded protein is localized to the mitochondria and catalyzes the conversion of thiosulfate and cyanide to thiocyanate and sulfite. In addition, the protein interacts with 5S ribosomal RNA and facilitates its import into the mitochondria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(31874,'NCBI Gene PubMed Count',NULL,9136,NULL,NULL,NULL,44,NULL,NULL,NULL),(31875,'NCBI Gene Summary',NULL,9137,NULL,'This gene encodes a RAC1-specific guanine nucleotide exchange factor (GEF). GEFs mediate the exchange of guanosine diphosphate (GDP) for guanosine triphosphate (GTP). The binding of GTP induces a conformational change in RAC1 that allows downstream effectors to bind and transduce a signal. This gene thus regulates RAC1 signaling pathways that affect cell shape, migration, adhesion, growth, survival, and polarity, as well as influencing actin cytoskeletal formation, endocytosis, and membrane trafficking. This gene thus plays an important role in cell invasion, metastasis, and carcinogenesis. In addition to RAC1, the encoded protein activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protein isoforms that experience a diverse array of intramolecular, protein-protein, and phosphorylation interactions as well as phosphoinositide binding. Both the longer and shorter isoforms have C-terminal Dbl homology (DH) and pleckstrin homology (PH) domains while only the longer isoforms of this gene have the N-terminal myristoylation site and the downstream N-terminal PH domain, ras-binding domain (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domain. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(31876,'NCBI Gene PubMed Count',NULL,9137,NULL,NULL,NULL,144,NULL,NULL,NULL),(31877,'NCBI Gene PubMed Count',NULL,9138,NULL,NULL,NULL,23,NULL,NULL,NULL),(31878,'NCBI Gene Summary',NULL,9139,NULL,'This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(31879,'NCBI Gene PubMed Count',NULL,9139,NULL,NULL,NULL,11,NULL,NULL,NULL),(31880,'NCBI Gene Summary',NULL,9140,NULL,'Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31881,'NCBI Gene PubMed Count',NULL,9140,NULL,NULL,NULL,55,NULL,NULL,NULL),(31882,'NCBI Gene Summary',NULL,9141,NULL,'This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(31883,'NCBI Gene PubMed Count',NULL,9141,NULL,NULL,NULL,328,NULL,NULL,NULL),(31884,'NCBI Gene Summary',NULL,9142,NULL,'This locus represents naturally occurring read-through transcription from the neighboring MSANTD3 (Myb/SANT-like DNA-binding domain containing 3) and TMEFF1 (transmembrane protein with EGF-like and two follistatin-like domains 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(31885,'NCBI Gene PubMed Count',NULL,9142,NULL,NULL,NULL,1,NULL,NULL,NULL),(31886,'NCBI Gene Summary',NULL,9143,NULL,'This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3\'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31887,'NCBI Gene PubMed Count',NULL,9143,NULL,NULL,NULL,37,NULL,NULL,NULL),(31888,'NCBI Gene PubMed Count',NULL,9144,NULL,NULL,NULL,15,NULL,NULL,NULL),(31889,'NCBI Gene PubMed Count',NULL,9145,NULL,NULL,NULL,10,NULL,NULL,NULL),(31890,'NCBI Gene Summary',NULL,9146,NULL,'This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(31891,'NCBI Gene PubMed Count',NULL,9146,NULL,NULL,NULL,10,NULL,NULL,NULL),(31892,'NCBI Gene Summary',NULL,9147,NULL,'Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31893,'NCBI Gene PubMed Count',NULL,9147,NULL,NULL,NULL,1619,NULL,NULL,NULL),(31894,'NCBI Gene PubMed Count',NULL,9148,NULL,NULL,NULL,8,NULL,NULL,NULL),(31895,'NCBI Gene PubMed Count',NULL,9149,NULL,NULL,NULL,7,NULL,NULL,NULL),(31896,'NCBI Gene PubMed Count',NULL,9150,NULL,NULL,NULL,3,NULL,NULL,NULL),(31897,'NCBI Gene PubMed Count',NULL,9151,NULL,NULL,NULL,12,NULL,NULL,NULL),(31898,'NCBI Gene PubMed Count',NULL,9152,NULL,NULL,NULL,5,NULL,NULL,NULL),(31899,'NCBI Gene PubMed Count',NULL,9153,NULL,NULL,NULL,6,NULL,NULL,NULL),(31900,'NCBI Gene PubMed Count',NULL,9154,NULL,NULL,NULL,2,NULL,NULL,NULL),(31901,'NCBI Gene PubMed Count',NULL,9155,NULL,NULL,NULL,1,NULL,NULL,NULL),(31902,'NCBI Gene PubMed Count',NULL,9156,NULL,NULL,NULL,4,NULL,NULL,NULL),(31903,'NCBI Gene PubMed Count',NULL,9157,NULL,NULL,NULL,1,NULL,NULL,NULL),(31904,'NCBI Gene PubMed Count',NULL,9158,NULL,NULL,NULL,1,NULL,NULL,NULL),(31905,'NCBI Gene Summary',NULL,9160,NULL,'This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a complex (the DAB complex) with transcription factors IID and IIA. Transcription factor IIB serves as a bridge between IID, the factor which initially recognizes the promoter sequence, and RNA polymerase II. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31906,'NCBI Gene PubMed Count',NULL,9160,NULL,NULL,NULL,119,NULL,NULL,NULL),(31907,'NCBI Gene Summary',NULL,9161,NULL,'Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(31908,'NCBI Gene PubMed Count',NULL,9161,NULL,NULL,NULL,41,NULL,NULL,NULL),(31909,'NCBI Gene Summary',NULL,9162,NULL,'This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(31910,'NCBI Gene PubMed Count',NULL,9162,NULL,NULL,NULL,10,NULL,NULL,NULL),(31911,'NCBI Gene PubMed Count',NULL,9163,NULL,NULL,NULL,25,NULL,NULL,NULL),(31912,'NCBI Gene Summary',NULL,9164,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(31913,'NCBI Gene PubMed Count',NULL,9164,NULL,NULL,NULL,209,NULL,NULL,NULL),(31914,'NCBI Gene Summary',NULL,9165,NULL,'The gene is a member of the transcription factor DP family. The encoded protein forms heterodimers with the E2F transcription factors resulting in transcriptional activation of cell cycle regulated genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(31915,'NCBI Gene PubMed Count',NULL,9165,NULL,NULL,NULL,31,NULL,NULL,NULL),(31916,'NCBI Gene PubMed Count',NULL,9166,NULL,NULL,NULL,16,NULL,NULL,NULL),(31917,'NCBI Gene Summary',NULL,9167,NULL,'This locus controls the synthesis of the Kell blood group \'precursor substance\' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31918,'NCBI Gene PubMed Count',NULL,9167,NULL,NULL,NULL,31,NULL,NULL,NULL),(31919,'NCBI Gene Summary',NULL,9168,NULL,'This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signaling, and is necessary for proper lineage commitment and maturation of T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(31920,'NCBI Gene PubMed Count',NULL,9168,NULL,NULL,NULL,28,NULL,NULL,NULL),(31921,'NCBI Gene PubMed Count',NULL,9169,NULL,NULL,NULL,12,NULL,NULL,NULL),(31922,'NCBI Gene Summary',NULL,9170,NULL,'This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(31923,'NCBI Gene PubMed Count',NULL,9170,NULL,NULL,NULL,6,NULL,NULL,NULL),(31924,'NCBI Gene Summary',NULL,9171,NULL,'This gene encodes an enzyme which catalyzes the biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of thiamine triphosphate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(31925,'NCBI Gene PubMed Count',NULL,9171,NULL,NULL,NULL,15,NULL,NULL,NULL),(31926,'NCBI Gene Summary',NULL,9172,NULL,'This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein\'s function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31927,'NCBI Gene PubMed Count',NULL,9172,NULL,NULL,NULL,41,NULL,NULL,NULL),(31928,'NCBI Gene Summary',NULL,9173,NULL,'This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman\'s capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(31929,'NCBI Gene PubMed Count',NULL,9173,NULL,NULL,NULL,13,NULL,NULL,NULL),(31930,'NCBI Gene Summary',NULL,9174,NULL,'The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis antigen, a secreted glycoprotein that is recognized by antibodies in some types of immune-related tubulointerstitial nephritis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(31931,'NCBI Gene PubMed Count',NULL,9174,NULL,NULL,NULL,27,NULL,NULL,NULL),(31932,'NCBI Gene Summary',NULL,9175,NULL,'This gene is a member of the tachykinin family of neurotransmitter-encoding genes. Tachykinin proteins are cleaved into small, secreted peptides that activate members of a family of receptor proteins. The products of this gene preferentially activate tachykinin receptor 1, and are thought to regulate peripheral endocrine and paracrine functions including blood pressure, the immune system, and endocrine gland secretion. The products of this gene lack a dibasic cleavage site found in other tachykinin proteins. Consequently, the nature of the cleavage products generated in vivo remains to be determined. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31933,'NCBI Gene PubMed Count',NULL,9175,NULL,NULL,NULL,21,NULL,NULL,NULL),(31934,'NCBI Gene PubMed Count',NULL,9176,NULL,NULL,NULL,14,NULL,NULL,NULL),(31935,'NCBI Gene PubMed Count',NULL,9177,NULL,NULL,NULL,12,NULL,NULL,NULL),(31936,'NCBI Gene PubMed Count',NULL,9178,NULL,NULL,NULL,6,NULL,NULL,NULL),(31937,'NCBI Gene PubMed Count',NULL,9179,NULL,NULL,NULL,6,NULL,NULL,NULL),(31938,'NCBI Gene PubMed Count',NULL,9180,NULL,NULL,NULL,5,NULL,NULL,NULL),(31939,'NCBI Gene PubMed Count',NULL,9181,NULL,NULL,NULL,5,NULL,NULL,NULL),(31940,'NCBI Gene Summary',NULL,9182,NULL,'This gene consists of two exons and encodes a multi-pass membrane protein. An alternatively spliced transcript variant encoding the same protein has been found, but its biological validity is not determined. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(31941,'NCBI Gene PubMed Count',NULL,9182,NULL,NULL,NULL,7,NULL,NULL,NULL),(31942,'NCBI Gene PubMed Count',NULL,9183,NULL,NULL,NULL,1,NULL,NULL,NULL),(31943,'NCBI Gene PubMed Count',NULL,9184,NULL,NULL,NULL,14,NULL,NULL,NULL),(31944,'NCBI Gene PubMed Count',NULL,9185,NULL,NULL,NULL,5,NULL,NULL,NULL),(31945,'NCBI Gene PubMed Count',NULL,9186,NULL,NULL,NULL,9,NULL,NULL,NULL),(31946,'NCBI Gene PubMed Count',NULL,9187,NULL,NULL,NULL,5,NULL,NULL,NULL),(31947,'NCBI Gene Summary',NULL,9188,NULL,'This gene encodes a member of the type II transmembrane serine protease family. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(31948,'NCBI Gene PubMed Count',NULL,9188,NULL,NULL,NULL,10,NULL,NULL,NULL),(31949,'NCBI Gene PubMed Count',NULL,9189,NULL,NULL,NULL,5,NULL,NULL,NULL),(31950,'NCBI Gene Summary',NULL,9190,NULL,'This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(31951,'NCBI Gene PubMed Count',NULL,9190,NULL,NULL,NULL,32,NULL,NULL,NULL),(31952,'NCBI Gene PubMed Count',NULL,9191,NULL,NULL,NULL,8,NULL,NULL,NULL),(31953,'NCBI Gene Summary',NULL,9192,NULL,'The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(31954,'NCBI Gene PubMed Count',NULL,9192,NULL,NULL,NULL,384,NULL,NULL,NULL),(31955,'NCBI Gene PubMed Count',NULL,9193,NULL,NULL,NULL,13,NULL,NULL,NULL),(31956,'NCBI Gene Summary',NULL,9194,NULL,'The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(31957,'NCBI Gene PubMed Count',NULL,9194,NULL,NULL,NULL,19,NULL,NULL,NULL),(31958,'NCBI Gene PubMed Count',NULL,9195,NULL,NULL,NULL,7,NULL,NULL,NULL),(31959,'NCBI Gene PubMed Count',NULL,9196,NULL,NULL,NULL,2,NULL,NULL,NULL),(31960,'NCBI Gene Summary',NULL,9197,NULL,'The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(31961,'NCBI Gene PubMed Count',NULL,9197,NULL,NULL,NULL,99,NULL,NULL,NULL),(31962,'NCBI Gene PubMed Count',NULL,9198,NULL,NULL,NULL,8,NULL,NULL,NULL),(31963,'NCBI Gene Summary',NULL,9199,NULL,'The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(31964,'NCBI Gene PubMed Count',NULL,9199,NULL,NULL,NULL,6,NULL,NULL,NULL),(31965,'NCBI Gene PubMed Count',NULL,9200,NULL,NULL,NULL,3,NULL,NULL,NULL),(31966,'NCBI Gene PubMed Count',NULL,9201,NULL,NULL,NULL,3,NULL,NULL,NULL),(31967,'NCBI Gene Summary',NULL,9202,NULL,'This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(31968,'NCBI Gene PubMed Count',NULL,9202,NULL,NULL,NULL,13,NULL,NULL,NULL),(31969,'NCBI Gene PubMed Count',NULL,9203,NULL,NULL,NULL,8,NULL,NULL,NULL),(31970,'NCBI Gene PubMed Count',NULL,9204,NULL,NULL,NULL,10,NULL,NULL,NULL),(31971,'NCBI Gene Summary',NULL,9205,NULL,'Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31972,'NCBI Gene PubMed Count',NULL,9205,NULL,NULL,NULL,35,NULL,NULL,NULL),(31973,'NCBI Gene Summary',NULL,9206,NULL,'This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(31974,'NCBI Gene PubMed Count',NULL,9206,NULL,NULL,NULL,37,NULL,NULL,NULL),(31975,'NCBI Gene Summary',NULL,9207,NULL,'This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(31976,'NCBI Gene PubMed Count',NULL,9207,NULL,NULL,NULL,36,NULL,NULL,NULL),(31977,'NCBI Gene Summary',NULL,9208,NULL,'This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(31978,'NCBI Gene PubMed Count',NULL,9208,NULL,NULL,NULL,39,NULL,NULL,NULL),(31979,'NCBI Gene Summary',NULL,9209,NULL,'This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5\' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(31980,'NCBI Gene PubMed Count',NULL,9209,NULL,NULL,NULL,25,NULL,NULL,NULL),(31981,'NCBI Gene Summary',NULL,9210,NULL,'The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31982,'NCBI Gene PubMed Count',NULL,9210,NULL,NULL,NULL,19,NULL,NULL,NULL),(31983,'NCBI Gene Summary',NULL,9211,NULL,'This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(31984,'NCBI Gene PubMed Count',NULL,9211,NULL,NULL,NULL,76,NULL,NULL,NULL),(31985,'NCBI Gene PubMed Count',NULL,9212,NULL,NULL,NULL,7,NULL,NULL,NULL),(31986,'NCBI Gene PubMed Count',NULL,9213,NULL,NULL,NULL,8,NULL,NULL,NULL),(31987,'NCBI Gene Summary',NULL,9214,NULL,'This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31988,'NCBI Gene PubMed Count',NULL,9214,NULL,NULL,NULL,16,NULL,NULL,NULL),(31989,'NCBI Gene Summary',NULL,9215,NULL,'Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(31990,'NCBI Gene PubMed Count',NULL,9215,NULL,NULL,NULL,12,NULL,NULL,NULL),(31991,'NCBI Gene PubMed Count',NULL,9216,NULL,NULL,NULL,5,NULL,NULL,NULL),(31992,'NCBI Gene PubMed Count',NULL,9217,NULL,NULL,NULL,6,NULL,NULL,NULL),(31993,'NCBI Gene PubMed Count',NULL,9218,NULL,NULL,NULL,4,NULL,NULL,NULL),(31994,'NCBI Gene PubMed Count',NULL,9219,NULL,NULL,NULL,9,NULL,NULL,NULL),(31995,'NCBI Gene PubMed Count',NULL,9220,NULL,NULL,NULL,1,NULL,NULL,NULL),(31996,'NCBI Gene Summary',NULL,9221,NULL,'C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(31997,'NCBI Gene PubMed Count',NULL,9221,NULL,NULL,NULL,8,NULL,NULL,NULL),(31998,'NCBI Gene Summary',NULL,9222,NULL,'The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(31999,'NCBI Gene PubMed Count',NULL,9222,NULL,NULL,NULL,195,NULL,NULL,NULL),(32000,'NCBI Gene Summary',NULL,9223,NULL,'The protein encoded by this gene is a member of the Toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(32001,'NCBI Gene PubMed Count',NULL,9223,NULL,NULL,NULL,662,NULL,NULL,NULL),(32002,'NCBI Gene PubMed Count',NULL,9224,NULL,NULL,NULL,1,NULL,NULL,NULL),(32003,'NCBI Gene PubMed Count',NULL,9225,NULL,NULL,NULL,5,NULL,NULL,NULL),(32004,'NCBI Gene Summary',NULL,9226,NULL,'This gene encodes a protein that is regulated by micro RNA MiR-574-3, and is thought to have an oncogenic function in human bladder cancer. A similar gene in mouse is located in a chromosomal region critical for differentiation of mesoderm, which affects embryo patterning and the formation of heart, muscle, blood, skeleton and the urogenital system. The mouse gene is expressed in early development, and in the adult. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(32005,'NCBI Gene PubMed Count',NULL,9226,NULL,NULL,NULL,6,NULL,NULL,NULL),(32006,'NCBI Gene PubMed Count',NULL,9227,NULL,NULL,NULL,15,NULL,NULL,NULL),(32007,'NCBI Gene Summary',NULL,9228,NULL,'This gene encodes a nuclear transcription factor that belongs to the NK-linked or NK-like (NKL) subfamily of homeobox genes. The encoded protein is required for normal development of the spleen during embryogenesis. This protein is also involved in specification of neuronal cell fates. Ectopic expression of this gene due to chromosomal translocations is associated with certain T-cell acute lymphoblastic leukemias. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(32008,'NCBI Gene PubMed Count',NULL,9228,NULL,NULL,NULL,43,NULL,NULL,NULL),(32009,'NCBI Gene PubMed Count',NULL,9229,NULL,NULL,NULL,6,NULL,NULL,NULL),(32010,'NCBI Gene Summary',NULL,9230,NULL,'The protein encoded by this gene is an orphan homeobox protein that encodes a DNA-binding nuclear transcription factor. A translocation [t(5;14)(q35;q32)] involving this gene is associated with T-cell acute lymphoblastic leukemia (T-ALL) in children and young adults. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(32011,'NCBI Gene PubMed Count',NULL,9230,NULL,NULL,NULL,29,NULL,NULL,NULL),(32012,'NCBI Gene PubMed Count',NULL,9231,NULL,NULL,NULL,7,NULL,NULL,NULL),(32013,'NCBI Gene Summary',NULL,9232,NULL,'Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32014,'NCBI Gene PubMed Count',NULL,9232,NULL,NULL,NULL,34,NULL,NULL,NULL),(32015,'NCBI Gene PubMed Count',NULL,9233,NULL,NULL,NULL,13,NULL,NULL,NULL),(32016,'NCBI Gene Summary',NULL,9234,NULL,'This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and one transmembrane domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The mature membrane-bound protein can both oxidize and reduce disulfide bonds and acts selectively on membrane-associated polypeptides. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(32017,'NCBI Gene PubMed Count',NULL,9234,NULL,NULL,NULL,18,NULL,NULL,NULL),(32018,'NCBI Gene PubMed Count',NULL,9235,NULL,NULL,NULL,18,NULL,NULL,NULL),(32019,'NCBI Gene PubMed Count',NULL,9236,NULL,NULL,NULL,2,NULL,NULL,NULL),(32020,'NCBI Gene Summary',NULL,9237,NULL,'This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(32021,'NCBI Gene PubMed Count',NULL,9237,NULL,NULL,NULL,13,NULL,NULL,NULL),(32022,'NCBI Gene PubMed Count',NULL,9238,NULL,NULL,NULL,13,NULL,NULL,NULL),(32023,'NCBI Gene PubMed Count',NULL,9239,NULL,NULL,NULL,2,NULL,NULL,NULL),(32024,'NCBI Gene Summary',NULL,9240,NULL,'This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(32025,'NCBI Gene PubMed Count',NULL,9240,NULL,NULL,NULL,51,NULL,NULL,NULL),(32026,'NCBI Gene Summary',NULL,9241,NULL,'This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32027,'NCBI Gene PubMed Count',NULL,9241,NULL,NULL,NULL,48,NULL,NULL,NULL),(32028,'NCBI Gene PubMed Count',NULL,9242,NULL,NULL,NULL,12,NULL,NULL,NULL),(32029,'NCBI Gene Summary',NULL,9243,NULL,'The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32030,'NCBI Gene PubMed Count',NULL,9243,NULL,NULL,NULL,380,NULL,NULL,NULL),(32031,'NCBI Gene PubMed Count',NULL,9244,NULL,NULL,NULL,14,NULL,NULL,NULL),(32032,'NCBI Gene Summary',NULL,9245,NULL,'The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Two transcript variants encoding different isoforms as well as a noncoding transcript have been found for this gene.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(32033,'NCBI Gene PubMed Count',NULL,9245,NULL,NULL,NULL,61,NULL,NULL,NULL),(32034,'NCBI Gene PubMed Count',NULL,9246,NULL,NULL,NULL,9,NULL,NULL,NULL),(32035,'NCBI Gene Summary',NULL,9247,NULL,'This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(32036,'NCBI Gene PubMed Count',NULL,9247,NULL,NULL,NULL,30,NULL,NULL,NULL),(32037,'NCBI Gene PubMed Count',NULL,9248,NULL,NULL,NULL,1,NULL,NULL,NULL),(32038,'NCBI Gene Summary',NULL,9249,NULL,'The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(32039,'NCBI Gene PubMed Count',NULL,9249,NULL,NULL,NULL,47,NULL,NULL,NULL),(32040,'NCBI Gene Summary',NULL,9250,NULL,'This gene encodes a single-transmembrane protein which is one of nine members of a family of transmembrane adaptors that modulate both WNT and FGF signaling by blocking the maturation and transport of their receptors to the cell surface. Members of this family contain an N-terminal cysteine-rich domain with a distinct cysteine pattern, a single transmembrane domain, and a C-terminal proline-rich, low complexity region. The encoded protein acts as a tumor suppressor by accelerating beta-catenin degradation. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(32041,'NCBI Gene PubMed Count',NULL,9250,NULL,NULL,NULL,10,NULL,NULL,NULL),(32042,'NCBI Gene Summary',NULL,9251,NULL,'This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32043,'NCBI Gene PubMed Count',NULL,9251,NULL,NULL,NULL,474,NULL,NULL,NULL),(32044,'NCBI Gene PubMed Count',NULL,9252,NULL,NULL,NULL,9,NULL,NULL,NULL),(32045,'NCBI Gene PubMed Count',NULL,9253,NULL,NULL,NULL,9,NULL,NULL,NULL),(32046,'NCBI Gene PubMed Count',NULL,9254,NULL,NULL,NULL,4,NULL,NULL,NULL),(32047,'NCBI Gene PubMed Count',NULL,9255,NULL,NULL,NULL,2,NULL,NULL,NULL),(32048,'NCBI Gene Summary',NULL,9256,NULL,'This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(32049,'NCBI Gene PubMed Count',NULL,9256,NULL,NULL,NULL,70,NULL,NULL,NULL),(32050,'NCBI Gene PubMed Count',NULL,9257,NULL,NULL,NULL,4,NULL,NULL,NULL),(32051,'NCBI Gene PubMed Count',NULL,9258,NULL,NULL,NULL,0,NULL,NULL,NULL),(32052,'NCBI Gene PubMed Count',NULL,9259,NULL,NULL,NULL,2,NULL,NULL,NULL),(32053,'NCBI Gene Summary',NULL,9260,NULL,'SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs.  SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested.  Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or cognitive disability of Down syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32054,'NCBI Gene PubMed Count',NULL,9260,NULL,NULL,NULL,39,NULL,NULL,NULL),(32055,'NCBI Gene Summary',NULL,9261,NULL,'The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32056,'NCBI Gene PubMed Count',NULL,9261,NULL,NULL,NULL,129,NULL,NULL,NULL),(32057,'NCBI Gene Summary',NULL,9262,NULL,'This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila \'sine oculis\' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(32058,'NCBI Gene PubMed Count',NULL,9262,NULL,NULL,NULL,28,NULL,NULL,NULL),(32059,'NCBI Gene PubMed Count',NULL,9263,NULL,NULL,NULL,2,NULL,NULL,NULL),(32060,'NCBI Gene Summary',NULL,9264,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(32061,'NCBI Gene PubMed Count',NULL,9264,NULL,NULL,NULL,312,NULL,NULL,NULL),(32062,'NCBI Gene PubMed Count',NULL,9265,NULL,NULL,NULL,7,NULL,NULL,NULL),(32063,'NCBI Gene Summary',NULL,9266,NULL,'Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32064,'NCBI Gene PubMed Count',NULL,9266,NULL,NULL,NULL,27,NULL,NULL,NULL),(32065,'NCBI Gene PubMed Count',NULL,9267,NULL,NULL,NULL,1,NULL,NULL,NULL),(32066,'NCBI Gene PubMed Count',NULL,9268,NULL,NULL,NULL,11,NULL,NULL,NULL),(32067,'NCBI Gene PubMed Count',NULL,9269,NULL,NULL,NULL,6,NULL,NULL,NULL),(32068,'NCBI Gene Summary',NULL,9271,NULL,'The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(32069,'NCBI Gene PubMed Count',NULL,9271,NULL,NULL,NULL,134,NULL,NULL,NULL),(32070,'NCBI Gene PubMed Count',NULL,9272,NULL,NULL,NULL,3,NULL,NULL,NULL),(32071,'NCBI Gene PubMed Count',NULL,9273,NULL,NULL,NULL,4,NULL,NULL,NULL),(32072,'NCBI Gene Summary',NULL,9274,NULL,'The protein encoded by this gene is involved in the contraction of both striated and smooth muscle. During pregnancy, the encoded protein interacts with progesterone receptor to attenuate the expression of contractile and metabolic proteins. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(32073,'NCBI Gene PubMed Count',NULL,9274,NULL,NULL,NULL,9,NULL,NULL,NULL),(32074,'NCBI Gene Summary',NULL,9275,NULL,'This gene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. This gene encodes the SNAP beta isoform which has been shown to be preferentially expressed in brain tissue. The encoded protein also interacts with the GluR2 &#945;-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) receptor subunit C-terminus and may play a role as a chaperone in the molecular processing of the AMPA receptor. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(32075,'NCBI Gene PubMed Count',NULL,9275,NULL,NULL,NULL,13,NULL,NULL,NULL),(32076,'NCBI Gene PubMed Count',NULL,9276,NULL,NULL,NULL,13,NULL,NULL,NULL),(32077,'NCBI Gene PubMed Count',NULL,9277,NULL,NULL,NULL,14,NULL,NULL,NULL),(32078,'NCBI Gene Summary',NULL,9278,NULL,'This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(32079,'NCBI Gene PubMed Count',NULL,9278,NULL,NULL,NULL,14,NULL,NULL,NULL),(32080,'NCBI Gene PubMed Count',NULL,9279,NULL,NULL,NULL,8,NULL,NULL,NULL),(32081,'NCBI Gene Summary',NULL,9280,NULL,'This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(32082,'NCBI Gene PubMed Count',NULL,9280,NULL,NULL,NULL,60,NULL,NULL,NULL),(32083,'NCBI Gene Summary',NULL,9281,NULL,'The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(32084,'NCBI Gene PubMed Count',NULL,9281,NULL,NULL,NULL,268,NULL,NULL,NULL),(32085,'NCBI Gene Summary',NULL,9282,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(32086,'NCBI Gene PubMed Count',NULL,9282,NULL,NULL,NULL,19,NULL,NULL,NULL),(32087,'NCBI Gene PubMed Count',NULL,9283,NULL,NULL,NULL,3,NULL,NULL,NULL),(32088,'NCBI Gene PubMed Count',NULL,9284,NULL,NULL,NULL,1,NULL,NULL,NULL),(32089,'NCBI Gene Summary',NULL,9285,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(32090,'NCBI Gene PubMed Count',NULL,9285,NULL,NULL,NULL,35,NULL,NULL,NULL),(32091,'NCBI Gene Summary',NULL,9286,NULL,'This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(32092,'NCBI Gene PubMed Count',NULL,9286,NULL,NULL,NULL,61,NULL,NULL,NULL),(32093,'NCBI Gene PubMed Count',NULL,9287,NULL,NULL,NULL,2,NULL,NULL,NULL),(32094,'NCBI Gene Summary',NULL,9288,NULL,'This gene encodes a 12 transmembrane domain protein that is a member of the solute carrier organic anion transporter superfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(32095,'NCBI Gene PubMed Count',NULL,9288,NULL,NULL,NULL,11,NULL,NULL,NULL),(32096,'NCBI Gene Summary',NULL,9289,NULL,'The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(32097,'NCBI Gene PubMed Count',NULL,9289,NULL,NULL,NULL,84,NULL,NULL,NULL),(32098,'NCBI Gene PubMed Count',NULL,9290,NULL,NULL,NULL,4,NULL,NULL,NULL),(32099,'NCBI Gene Summary',NULL,9291,NULL,'This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(32100,'NCBI Gene PubMed Count',NULL,9291,NULL,NULL,NULL,24,NULL,NULL,NULL),(32101,'NCBI Gene Summary',NULL,9292,NULL,'The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32102,'NCBI Gene PubMed Count',NULL,9292,NULL,NULL,NULL,34,NULL,NULL,NULL),(32103,'NCBI Gene Summary',NULL,9293,NULL,'This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(32104,'NCBI Gene PubMed Count',NULL,9293,NULL,NULL,NULL,33,NULL,NULL,NULL),(32105,'NCBI Gene PubMed Count',NULL,9294,NULL,NULL,NULL,16,NULL,NULL,NULL),(32106,'NCBI Gene Summary',NULL,9295,NULL,'This gene encodes a member of the semaphorin family. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(32107,'NCBI Gene PubMed Count',NULL,9295,NULL,NULL,NULL,11,NULL,NULL,NULL),(32108,'NCBI Gene Summary',NULL,9296,NULL,'This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(32109,'NCBI Gene PubMed Count',NULL,9296,NULL,NULL,NULL,52,NULL,NULL,NULL),(32110,'NCBI Gene Summary',NULL,9297,NULL,'The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP3, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(32111,'NCBI Gene PubMed Count',NULL,9297,NULL,NULL,NULL,51,NULL,NULL,NULL),(32112,'NCBI Gene Summary',NULL,9298,NULL,'This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer\'s disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(32113,'NCBI Gene PubMed Count',NULL,9298,NULL,NULL,NULL,23,NULL,NULL,NULL),(32114,'NCBI Gene Summary',NULL,9299,NULL,'This gene encodes a member of the sestrin family. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(32115,'NCBI Gene PubMed Count',NULL,9299,NULL,NULL,NULL,22,NULL,NULL,NULL),(32116,'NCBI Gene Summary',NULL,9300,NULL,'This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32117,'NCBI Gene PubMed Count',NULL,9300,NULL,NULL,NULL,65,NULL,NULL,NULL),(32118,'NCBI Gene Summary',NULL,9301,NULL,'This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(32119,'NCBI Gene PubMed Count',NULL,9301,NULL,NULL,NULL,43,NULL,NULL,NULL),(32120,'NCBI Gene Summary',NULL,9302,NULL,'The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(32121,'NCBI Gene PubMed Count',NULL,9302,NULL,NULL,NULL,226,NULL,NULL,NULL),(32122,'NCBI Gene Summary',NULL,9303,NULL,'The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. This gene product represents one component of a heterodimeric molecule present in human tears whose elution profile is consistent with prostatein, a tetrameric molecule composed of three peptide components in heterodimers. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 15, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32123,'NCBI Gene PubMed Count',NULL,9303,NULL,NULL,NULL,9,NULL,NULL,NULL),(32124,'NCBI Gene Summary',NULL,9304,NULL,'The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. Lipophilin gene products are widely expressed in normal tissues, especially in endocrine-responsive organs. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 10, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32125,'NCBI Gene PubMed Count',NULL,9304,NULL,NULL,NULL,15,NULL,NULL,NULL),(32126,'NCBI Gene PubMed Count',NULL,9305,NULL,NULL,NULL,7,NULL,NULL,NULL),(32127,'NCBI Gene PubMed Count',NULL,9306,NULL,NULL,NULL,32,NULL,NULL,NULL),(32128,'NCBI Gene PubMed Count',NULL,9307,NULL,NULL,NULL,12,NULL,NULL,NULL),(32129,'NCBI Gene PubMed Count',NULL,9308,NULL,NULL,NULL,10,NULL,NULL,NULL),(32130,'NCBI Gene PubMed Count',NULL,9309,NULL,NULL,NULL,14,NULL,NULL,NULL),(32131,'NCBI Gene PubMed Count',NULL,9310,NULL,NULL,NULL,19,NULL,NULL,NULL),(32132,'NCBI Gene Summary',NULL,9311,NULL,'This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32133,'NCBI Gene PubMed Count',NULL,9311,NULL,NULL,NULL,20,NULL,NULL,NULL),(32134,'NCBI Gene PubMed Count',NULL,9312,NULL,NULL,NULL,8,NULL,NULL,NULL),(32135,'NCBI Gene PubMed Count',NULL,9313,NULL,NULL,NULL,5,NULL,NULL,NULL),(32136,'NCBI Gene PubMed Count',NULL,9314,NULL,NULL,NULL,3,NULL,NULL,NULL),(32137,'NCBI Gene PubMed Count',NULL,9315,NULL,NULL,NULL,6,NULL,NULL,NULL),(32138,'NCBI Gene Summary',NULL,9316,NULL,'This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32139,'NCBI Gene PubMed Count',NULL,9316,NULL,NULL,NULL,119,NULL,NULL,NULL),(32140,'NCBI Gene Summary',NULL,9317,NULL,'This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(32141,'NCBI Gene PubMed Count',NULL,9317,NULL,NULL,NULL,31,NULL,NULL,NULL),(32142,'NCBI Gene Summary',NULL,9318,NULL,'This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(32143,'NCBI Gene PubMed Count',NULL,9318,NULL,NULL,NULL,32,NULL,NULL,NULL),(32144,'NCBI Gene PubMed Count',NULL,9319,NULL,NULL,NULL,2,NULL,NULL,NULL),(32145,'NCBI Gene PubMed Count',NULL,9320,NULL,NULL,NULL,6,NULL,NULL,NULL),(32146,'NCBI Gene Summary',NULL,9321,NULL,'The protein encoded by this gene belongs to the syndecan proteoglycan family. It may play a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism. Allelic variants of this gene have been associated with obesity. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(32147,'NCBI Gene PubMed Count',NULL,9321,NULL,NULL,NULL,37,NULL,NULL,NULL),(32148,'NCBI Gene Summary',NULL,9322,NULL,'This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(32149,'NCBI Gene PubMed Count',NULL,9322,NULL,NULL,NULL,18,NULL,NULL,NULL),(32150,'NCBI Gene Summary',NULL,9323,NULL,'This gene encodes a selenoprotein containing a selenocysteine (Sec) residue, which is encoded by the UGA codon that normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is specifically expressed in the testis. It belongs to the SelWTH family, which possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif, suggesting a redox function for this gene. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(32151,'NCBI Gene PubMed Count',NULL,9323,NULL,NULL,NULL,8,NULL,NULL,NULL),(32152,'NCBI Gene Summary',NULL,9324,NULL,'This gene encodes a selenoprotein containing a selenocysteine (Sec) residue, which is encoded by the UGA codon that normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is highly expressed in skeletal muscle, heart and brain. It belongs to the SelWTH family, which possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif, suggesting a redox function for this gene. Studies in mouse show that this selenoprotein is involved in muscle growth and differentiation, and in the protection of neurons from oxidative stress during neuronal development. A retroprocessed pseudogene of this locus has been identified on chromosome 1. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(32153,'NCBI Gene PubMed Count',NULL,9324,NULL,NULL,NULL,23,NULL,NULL,NULL),(32154,'NCBI Gene Summary',NULL,9325,NULL,'This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(32155,'NCBI Gene PubMed Count',NULL,9325,NULL,NULL,NULL,14,NULL,NULL,NULL),(32156,'NCBI Gene Summary',NULL,9326,NULL,'Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(32157,'NCBI Gene PubMed Count',NULL,9326,NULL,NULL,NULL,13,NULL,NULL,NULL),(32158,'NCBI Gene Summary',NULL,9327,NULL,'This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(32159,'NCBI Gene PubMed Count',NULL,9327,NULL,NULL,NULL,13,NULL,NULL,NULL),(32160,'NCBI Gene Summary',NULL,9328,NULL,'This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(32161,'NCBI Gene PubMed Count',NULL,9328,NULL,NULL,NULL,58,NULL,NULL,NULL),(32162,'NCBI Gene Summary',NULL,9329,NULL,'The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(32163,'NCBI Gene PubMed Count',NULL,9329,NULL,NULL,NULL,51,NULL,NULL,NULL),(32164,'NCBI Gene Summary',NULL,9330,NULL,'This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32165,'NCBI Gene PubMed Count',NULL,9330,NULL,NULL,NULL,6,NULL,NULL,NULL),(32166,'NCBI Gene PubMed Count',NULL,9331,NULL,NULL,NULL,14,NULL,NULL,NULL),(32167,'NCBI Gene PubMed Count',NULL,9332,NULL,NULL,NULL,17,NULL,NULL,NULL),(32168,'NCBI Gene Summary',NULL,9333,NULL,'This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3\' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(32169,'NCBI Gene PubMed Count',NULL,9333,NULL,NULL,NULL,48,NULL,NULL,NULL),(32170,'NCBI Gene Summary',NULL,9334,NULL,'This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32171,'NCBI Gene PubMed Count',NULL,9334,NULL,NULL,NULL,104,NULL,NULL,NULL),(32172,'NCBI Gene Summary',NULL,9335,NULL,'This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(32173,'NCBI Gene PubMed Count',NULL,9335,NULL,NULL,NULL,8,NULL,NULL,NULL),(32174,'NCBI Gene Summary',NULL,9336,NULL,'Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32175,'NCBI Gene PubMed Count',NULL,9336,NULL,NULL,NULL,81,NULL,NULL,NULL),(32176,'NCBI Gene Summary',NULL,9337,NULL,'The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(32177,'NCBI Gene PubMed Count',NULL,9337,NULL,NULL,NULL,11,NULL,NULL,NULL),(32178,'NCBI Gene PubMed Count',NULL,9338,NULL,NULL,NULL,8,NULL,NULL,NULL),(32179,'NCBI Gene Summary',NULL,9339,NULL,'Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(32180,'NCBI Gene PubMed Count',NULL,9339,NULL,NULL,NULL,19,NULL,NULL,NULL),(32181,'NCBI Gene Summary',NULL,9340,NULL,'This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(32182,'NCBI Gene PubMed Count',NULL,9340,NULL,NULL,NULL,100,NULL,NULL,NULL),(32183,'NCBI Gene Summary',NULL,9341,NULL,'This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. This family member mediates anti-inflammatory and immunosuppressive signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(32184,'NCBI Gene PubMed Count',NULL,9341,NULL,NULL,NULL,8,NULL,NULL,NULL),(32185,'NCBI Gene PubMed Count',NULL,9342,NULL,NULL,NULL,3,NULL,NULL,NULL),(32186,'NCBI Gene Summary',NULL,9343,NULL,'This gene encodes a member of the glucagon family of peptides. The encoded preproprotein is secreted by endocrine S cells in the proximal small intestinal mucosa as a prohormone, then proteolytically processed to generate the mature peptide hormone. The release of this active peptide hormone is stimulated by either fatty acids or acidic pH in the duodenum. This hormone stimulates the secretion of bile and bicarbonate in the duodenum, pancreatic and biliary ducts. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(32187,'NCBI Gene PubMed Count',NULL,9343,NULL,NULL,NULL,34,NULL,NULL,NULL),(32188,'NCBI Gene PubMed Count',NULL,9344,NULL,NULL,NULL,20,NULL,NULL,NULL),(32189,'NCBI Gene Summary',NULL,9345,NULL,'This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32190,'NCBI Gene PubMed Count',NULL,9345,NULL,NULL,NULL,9,NULL,NULL,NULL),(32191,'NCBI Gene Summary',NULL,9346,NULL,'The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32192,'NCBI Gene PubMed Count',NULL,9346,NULL,NULL,NULL,26,NULL,NULL,NULL),(32193,'NCBI Gene Summary',NULL,9347,NULL,'SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(32194,'NCBI Gene PubMed Count',NULL,9347,NULL,NULL,NULL,48,NULL,NULL,NULL),(32195,'NCBI Gene Summary',NULL,9348,NULL,'Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(32196,'NCBI Gene PubMed Count',NULL,9348,NULL,NULL,NULL,23,NULL,NULL,NULL),(32197,'NCBI Gene Summary',NULL,9349,NULL,'This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32198,'NCBI Gene PubMed Count',NULL,9349,NULL,NULL,NULL,23,NULL,NULL,NULL),(32199,'NCBI Gene Summary',NULL,9350,NULL,'This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(32200,'NCBI Gene PubMed Count',NULL,9350,NULL,NULL,NULL,90,NULL,NULL,NULL),(32201,'NCBI Gene PubMed Count',NULL,9351,NULL,NULL,NULL,76,NULL,NULL,NULL),(32202,'NCBI Gene Summary',NULL,9352,NULL,'This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 2 interacts with subunit 1 through its amino-terminus while the single zinc finger domain of subunit 2 plays a role in its binding to the 15S U2 snRNP. Subunit 2 may also function independently of its RNA splicing function as a microtubule-binding protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32203,'NCBI Gene PubMed Count',NULL,9352,NULL,NULL,NULL,35,NULL,NULL,NULL),(32204,'NCBI Gene PubMed Count',NULL,9353,NULL,NULL,NULL,10,NULL,NULL,NULL),(32205,'NCBI Gene PubMed Count',NULL,9354,NULL,NULL,NULL,8,NULL,NULL,NULL),(32206,'NCBI Gene PubMed Count',NULL,9355,NULL,NULL,NULL,79,NULL,NULL,NULL),(32207,'NCBI Gene Summary',NULL,9356,NULL,'The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32208,'NCBI Gene PubMed Count',NULL,9356,NULL,NULL,NULL,36,NULL,NULL,NULL),(32209,'NCBI Gene Summary',NULL,9357,NULL,'This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(32210,'NCBI Gene PubMed Count',NULL,9357,NULL,NULL,NULL,102,NULL,NULL,NULL),(32211,'NCBI Gene PubMed Count',NULL,9359,NULL,NULL,NULL,6,NULL,NULL,NULL),(32212,'NCBI Gene Summary',NULL,9360,NULL,'This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32213,'NCBI Gene PubMed Count',NULL,9360,NULL,NULL,NULL,66,NULL,NULL,NULL),(32214,'NCBI Gene Summary',NULL,9361,NULL,'This gene encodes a member of the slit family of secreted glycoproteins, which are ligands for the Robo family of immunoglobulin receptors. Slit proteins play highly conserved roles in axon guidance and neuronal migration and may also have functions during other cell migration processes including leukocyte migration. Members of the slit family are characterized by an N-terminal signal peptide, four leucine-rich repeats, nine epidermal growth factor repeats, and a C-terminal cysteine knot. Proteolytic processing of this protein gives rise to an N-terminal fragment that contains the four leucine-rich repeats and five epidermal growth factor repeats and a C-terminal fragment that contains four epidermal growth factor repeats and the cysteine knot. Both full length and cleaved proteins are secreted extracellularly and can function in axon repulsion as well as other specific processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(32215,'NCBI Gene PubMed Count',NULL,9361,NULL,NULL,NULL,146,NULL,NULL,NULL),(32216,'NCBI Gene Summary',NULL,9362,NULL,'This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32217,'NCBI Gene PubMed Count',NULL,9362,NULL,NULL,NULL,17,NULL,NULL,NULL),(32218,'NCBI Gene Summary',NULL,9363,NULL,'The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32219,'NCBI Gene PubMed Count',NULL,9363,NULL,NULL,NULL,120,NULL,NULL,NULL),(32220,'NCBI Gene PubMed Count',NULL,9364,NULL,NULL,NULL,1,NULL,NULL,NULL),(32221,'NCBI Gene Summary',NULL,9365,NULL,'This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(32222,'NCBI Gene PubMed Count',NULL,9365,NULL,NULL,NULL,78,NULL,NULL,NULL),(32223,'NCBI Gene Summary',NULL,9366,NULL,'The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(32224,'NCBI Gene PubMed Count',NULL,9366,NULL,NULL,NULL,18,NULL,NULL,NULL),(32225,'NCBI Gene Summary',NULL,9367,NULL,'This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(32226,'NCBI Gene PubMed Count',NULL,9367,NULL,NULL,NULL,177,NULL,NULL,NULL),(32227,'NCBI Gene Summary',NULL,9368,NULL,'This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(32228,'NCBI Gene PubMed Count',NULL,9368,NULL,NULL,NULL,43,NULL,NULL,NULL),(32229,'NCBI Gene Summary',NULL,9369,NULL,'The protein encoded by this gene belongs to the SEP15/selenoprotein M family. The exact function of this protein is not known; however, it has been found to associate with UDP-glucose:glycoprotein glucosyltransferase (UGTR), an endoplasmic reticulum(ER)-resident protein, which is involved in the quality control of protein folding. The association with UGTR retains this protein in the ER, where it may play a role in protein folding. It has also been suggested to have a role in cancer etiology. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(32230,'NCBI Gene PubMed Count',NULL,9369,NULL,NULL,NULL,31,NULL,NULL,NULL),(32231,'NCBI Gene Summary',NULL,9370,NULL,'Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(32232,'NCBI Gene PubMed Count',NULL,9370,NULL,NULL,NULL,40,NULL,NULL,NULL),(32233,'NCBI Gene Summary',NULL,9371,NULL,'Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(32234,'NCBI Gene PubMed Count',NULL,9371,NULL,NULL,NULL,18,NULL,NULL,NULL),(32235,'NCBI Gene Summary',NULL,9372,NULL,'This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32236,'NCBI Gene PubMed Count',NULL,9372,NULL,NULL,NULL,38,NULL,NULL,NULL),(32237,'NCBI Gene Summary',NULL,9373,NULL,'The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. This preproprotein is proteolytically processed by the prostate-specific antigen (PSA) protease to generate multiple peptide products that exhibit distinct functions. One of these peptides, SgI-29, is an antimicrobial peptide with antibacterial activity. This proteolysis process also breaks down the gel matrix and allows the spermatozoa to move more freely. This gene and another similar semenogelin gene are present in a gene cluster on chromosome 20. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(32238,'NCBI Gene PubMed Count',NULL,9373,NULL,NULL,NULL,64,NULL,NULL,NULL),(32239,'NCBI Gene PubMed Count',NULL,9374,NULL,NULL,NULL,13,NULL,NULL,NULL),(32240,'NCBI Gene Summary',NULL,9375,NULL,'This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(32241,'NCBI Gene PubMed Count',NULL,9375,NULL,NULL,NULL,97,NULL,NULL,NULL),(32242,'NCBI Gene PubMed Count',NULL,9376,NULL,NULL,NULL,12,NULL,NULL,NULL),(32243,'NCBI Gene Summary',NULL,9377,NULL,'This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(32244,'NCBI Gene PubMed Count',NULL,9377,NULL,NULL,NULL,36,NULL,NULL,NULL),(32245,'NCBI Gene Summary',NULL,9378,NULL,'This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32246,'NCBI Gene PubMed Count',NULL,9378,NULL,NULL,NULL,62,NULL,NULL,NULL),(32247,'NCBI Gene Summary',NULL,9379,NULL,'This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(32248,'NCBI Gene PubMed Count',NULL,9379,NULL,NULL,NULL,20,NULL,NULL,NULL),(32249,'NCBI Gene Summary',NULL,9380,NULL,'The protein encoded by this gene is a transmembrane protein that degrades the bioactive signaling molecule sphingosine 1-phosphate. The encoded protein is induced during inflammatory responses and has been shown to be downregulated by the microRNA-31 tumor suppressor. Alternative splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(32250,'NCBI Gene PubMed Count',NULL,9380,NULL,NULL,NULL,9,NULL,NULL,NULL),(32251,'NCBI Gene Summary',NULL,9381,NULL,'TMEM97 is a conserved integral membrane protein that plays a role in controlling cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(32252,'NCBI Gene PubMed Count',NULL,9381,NULL,NULL,NULL,24,NULL,NULL,NULL),(32253,'NCBI Gene Summary',NULL,9382,NULL,'This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(32254,'NCBI Gene PubMed Count',NULL,9382,NULL,NULL,NULL,43,NULL,NULL,NULL),(32255,'NCBI Gene Summary',NULL,9383,NULL,'This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32256,'NCBI Gene PubMed Count',NULL,9383,NULL,NULL,NULL,76,NULL,NULL,NULL),(32257,'NCBI Gene Summary',NULL,9384,NULL,'ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(32258,'NCBI Gene PubMed Count',NULL,9384,NULL,NULL,NULL,20,NULL,NULL,NULL),(32259,'NCBI Gene PubMed Count',NULL,9385,NULL,NULL,NULL,40,NULL,NULL,NULL),(32260,'NCBI Gene PubMed Count',NULL,9386,NULL,NULL,NULL,4,NULL,NULL,NULL),(32261,'NCBI Gene PubMed Count',NULL,9387,NULL,NULL,NULL,2,NULL,NULL,NULL),(32262,'NCBI Gene Summary',NULL,9388,NULL,'This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(32263,'NCBI Gene PubMed Count',NULL,9388,NULL,NULL,NULL,51,NULL,NULL,NULL),(32264,'NCBI Gene PubMed Count',NULL,9389,NULL,NULL,NULL,10,NULL,NULL,NULL),(32265,'NCBI Gene Summary',NULL,9390,NULL,'This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(32266,'NCBI Gene PubMed Count',NULL,9390,NULL,NULL,NULL,288,NULL,NULL,NULL),(32267,'NCBI Gene PubMed Count',NULL,9391,NULL,NULL,NULL,32,NULL,NULL,NULL),(32268,'NCBI Gene Summary',NULL,9392,NULL,'The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt\'s lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(32269,'NCBI Gene PubMed Count',NULL,9392,NULL,NULL,NULL,16,NULL,NULL,NULL),(32270,'NCBI Gene Summary',NULL,9393,NULL,'This gene encodes a member of the sestrin family of stress-induced proteins. The encoded protein reduces the levels of intracellular reactive oxygen species induced by activated Ras downstream of RAC-alpha serine/threonine-protein kinase (Akt) and FoxO transcription factor. The protein is required for normal regulation of blood glucose, insulin resistance and plays a role in lipid storage in obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(32271,'NCBI Gene PubMed Count',NULL,9393,NULL,NULL,NULL,22,NULL,NULL,NULL),(32272,'NCBI Gene Summary',NULL,9394,NULL,'The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(32273,'NCBI Gene PubMed Count',NULL,9394,NULL,NULL,NULL,143,NULL,NULL,NULL),(32274,'NCBI Gene PubMed Count',NULL,9395,NULL,NULL,NULL,14,NULL,NULL,NULL),(32275,'NCBI Gene Summary',NULL,9396,NULL,'This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5\' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(32276,'NCBI Gene PubMed Count',NULL,9396,NULL,NULL,NULL,112,NULL,NULL,NULL),(32277,'NCBI Gene Summary',NULL,9397,NULL,'The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32278,'NCBI Gene PubMed Count',NULL,9397,NULL,NULL,NULL,16,NULL,NULL,NULL),(32279,'NCBI Gene Summary',NULL,9398,NULL,'This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(32280,'NCBI Gene PubMed Count',NULL,9398,NULL,NULL,NULL,26,NULL,NULL,NULL),(32281,'NCBI Gene PubMed Count',NULL,9399,NULL,NULL,NULL,14,NULL,NULL,NULL),(32282,'NCBI Gene PubMed Count',NULL,9400,NULL,NULL,NULL,2,NULL,NULL,NULL),(32283,'NCBI Gene Summary',NULL,9402,NULL,'The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32284,'NCBI Gene PubMed Count',NULL,9402,NULL,NULL,NULL,39,NULL,NULL,NULL),(32285,'NCBI Gene Summary',NULL,9403,NULL,'The protein encoded by this gene is a homeobox protein that is similar to the Drosophila \'sine oculis\' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32286,'NCBI Gene PubMed Count',NULL,9403,NULL,NULL,NULL,35,NULL,NULL,NULL),(32287,'NCBI Gene Summary',NULL,9404,NULL,'This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32288,'NCBI Gene PubMed Count',NULL,9404,NULL,NULL,NULL,33,NULL,NULL,NULL),(32289,'NCBI Gene PubMed Count',NULL,9405,NULL,NULL,NULL,19,NULL,NULL,NULL),(32290,'NCBI Gene Summary',NULL,9406,NULL,'The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(32291,'NCBI Gene PubMed Count',NULL,9406,NULL,NULL,NULL,32,NULL,NULL,NULL),(32292,'NCBI Gene Summary',NULL,9407,NULL,'The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(32293,'NCBI Gene PubMed Count',NULL,9407,NULL,NULL,NULL,39,NULL,NULL,NULL),(32294,'NCBI Gene Summary',NULL,9408,NULL,'This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32295,'NCBI Gene PubMed Count',NULL,9408,NULL,NULL,NULL,55,NULL,NULL,NULL),(32296,'NCBI Gene Summary',NULL,9409,NULL,'The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(32297,'NCBI Gene PubMed Count',NULL,9409,NULL,NULL,NULL,13,NULL,NULL,NULL),(32298,'NCBI Gene PubMed Count',NULL,9410,NULL,NULL,NULL,9,NULL,NULL,NULL),(32299,'NCBI Gene Summary',NULL,9411,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32300,'NCBI Gene PubMed Count',NULL,9411,NULL,NULL,NULL,42,NULL,NULL,NULL),(32301,'NCBI Gene Summary',NULL,9412,NULL,'This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes. This antimicrobial protein has antibacterial, antifungal and antiviral activity. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(32302,'NCBI Gene PubMed Count',NULL,9412,NULL,NULL,NULL,119,NULL,NULL,NULL),(32303,'NCBI Gene PubMed Count',NULL,9413,NULL,NULL,NULL,10,NULL,NULL,NULL),(32304,'NCBI Gene PubMed Count',NULL,9414,NULL,NULL,NULL,3,NULL,NULL,NULL),(32305,'NCBI Gene Summary',NULL,9415,NULL,'This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(32306,'NCBI Gene PubMed Count',NULL,9415,NULL,NULL,NULL,11,NULL,NULL,NULL),(32307,'NCBI Gene Summary',NULL,9416,NULL,'The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene \'mothers against decapentaplegic\' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions as a transcriptional modulator activated by transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(32308,'NCBI Gene PubMed Count',NULL,9416,NULL,NULL,NULL,640,NULL,NULL,NULL),(32309,'NCBI Gene Summary',NULL,9417,NULL,'This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex\'s gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer\'s disease. This gene has a pseudogene on chromosome 8. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32310,'NCBI Gene PubMed Count',NULL,9417,NULL,NULL,NULL,40,NULL,NULL,NULL),(32311,'NCBI Gene PubMed Count',NULL,9418,NULL,NULL,NULL,6,NULL,NULL,NULL),(32312,'NCBI Gene Summary',NULL,9419,NULL,'This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(32313,'NCBI Gene PubMed Count',NULL,9419,NULL,NULL,NULL,18,NULL,NULL,NULL),(32314,'NCBI Gene PubMed Count',NULL,9420,NULL,NULL,NULL,4,NULL,NULL,NULL),(32315,'NCBI Gene Summary',NULL,9421,NULL,'This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(32316,'NCBI Gene PubMed Count',NULL,9421,NULL,NULL,NULL,26,NULL,NULL,NULL),(32317,'NCBI Gene PubMed Count',NULL,9422,NULL,NULL,NULL,19,NULL,NULL,NULL),(32318,'NCBI Gene Summary',NULL,9423,NULL,'This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(32319,'NCBI Gene PubMed Count',NULL,9423,NULL,NULL,NULL,39,NULL,NULL,NULL),(32320,'NCBI Gene PubMed Count',NULL,9424,NULL,NULL,NULL,13,NULL,NULL,NULL),(32321,'NCBI Gene Summary',NULL,9425,NULL,'The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32322,'NCBI Gene PubMed Count',NULL,9425,NULL,NULL,NULL,25,NULL,NULL,NULL),(32323,'NCBI Gene Summary',NULL,9426,NULL,'This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson\'s disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(32324,'NCBI Gene PubMed Count',NULL,9426,NULL,NULL,NULL,74,NULL,NULL,NULL),(32325,'NCBI Gene PubMed Count',NULL,9427,NULL,NULL,NULL,13,NULL,NULL,NULL),(32326,'NCBI Gene Summary',NULL,9428,NULL,'The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32327,'NCBI Gene PubMed Count',NULL,9428,NULL,NULL,NULL,442,NULL,NULL,NULL),(32328,'NCBI Gene PubMed Count',NULL,9429,NULL,NULL,NULL,8,NULL,NULL,NULL),(32329,'NCBI Gene PubMed Count',NULL,9430,NULL,NULL,NULL,7,NULL,NULL,NULL),(32330,'NCBI Gene PubMed Count',NULL,9431,NULL,NULL,NULL,11,NULL,NULL,NULL),(32331,'NCBI Gene Summary',NULL,9432,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5\' UTR, but encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32332,'NCBI Gene PubMed Count',NULL,9432,NULL,NULL,NULL,10,NULL,NULL,NULL),(32333,'NCBI Gene Summary',NULL,9433,NULL,'This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32334,'NCBI Gene PubMed Count',NULL,9433,NULL,NULL,NULL,19,NULL,NULL,NULL),(32335,'NCBI Gene PubMed Count',NULL,9434,NULL,NULL,NULL,13,NULL,NULL,NULL),(32336,'NCBI Gene Summary',NULL,9435,NULL,'This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron\'s branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32337,'NCBI Gene PubMed Count',NULL,9435,NULL,NULL,NULL,149,NULL,NULL,NULL),(32338,'NCBI Gene Summary',NULL,9436,NULL,'This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(32339,'NCBI Gene PubMed Count',NULL,9436,NULL,NULL,NULL,11,NULL,NULL,NULL),(32340,'NCBI Gene Summary',NULL,9437,NULL,'This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(32341,'NCBI Gene PubMed Count',NULL,9437,NULL,NULL,NULL,52,NULL,NULL,NULL),(32342,'NCBI Gene PubMed Count',NULL,9438,NULL,NULL,NULL,8,NULL,NULL,NULL),(32343,'NCBI Gene Summary',NULL,9439,NULL,'The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(32344,'NCBI Gene PubMed Count',NULL,9439,NULL,NULL,NULL,64,NULL,NULL,NULL),(32345,'NCBI Gene Summary',NULL,9440,NULL,'This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(32346,'NCBI Gene PubMed Count',NULL,9440,NULL,NULL,NULL,18,NULL,NULL,NULL),(32347,'NCBI Gene PubMed Count',NULL,9441,NULL,NULL,NULL,10,NULL,NULL,NULL),(32348,'NCBI Gene Summary',NULL,9442,NULL,'This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences are encoded by the splice variants. Two additional variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32349,'NCBI Gene PubMed Count',NULL,9442,NULL,NULL,NULL,15,NULL,NULL,NULL),(32350,'NCBI Gene PubMed Count',NULL,9443,NULL,NULL,NULL,7,NULL,NULL,NULL),(32351,'NCBI Gene PubMed Count',NULL,9444,NULL,NULL,NULL,11,NULL,NULL,NULL),(32352,'NCBI Gene PubMed Count',NULL,9445,NULL,NULL,NULL,35,NULL,NULL,NULL),(32353,'NCBI Gene PubMed Count',NULL,9446,NULL,NULL,NULL,16,NULL,NULL,NULL),(32354,'NCBI Gene PubMed Count',NULL,9447,NULL,NULL,NULL,14,NULL,NULL,NULL),(32355,'NCBI Gene PubMed Count',NULL,9448,NULL,NULL,NULL,3,NULL,NULL,NULL),(32356,'NCBI Gene Summary',NULL,9449,NULL,'Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(32357,'NCBI Gene PubMed Count',NULL,9449,NULL,NULL,NULL,14,NULL,NULL,NULL),(32358,'NCBI Gene Summary',NULL,9450,NULL,'This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(32359,'NCBI Gene PubMed Count',NULL,9450,NULL,NULL,NULL,38,NULL,NULL,NULL),(32360,'NCBI Gene Summary',NULL,9451,NULL,'This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32361,'NCBI Gene PubMed Count',NULL,9451,NULL,NULL,NULL,109,NULL,NULL,NULL),(32362,'NCBI Gene Summary',NULL,9452,NULL,'This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(32363,'NCBI Gene PubMed Count',NULL,9452,NULL,NULL,NULL,3,NULL,NULL,NULL),(32364,'NCBI Gene PubMed Count',NULL,9453,NULL,NULL,NULL,2,NULL,NULL,NULL),(32365,'NCBI Gene Summary',NULL,9454,NULL,'Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(32366,'NCBI Gene PubMed Count',NULL,9454,NULL,NULL,NULL,42,NULL,NULL,NULL),(32367,'NCBI Gene Summary',NULL,9455,NULL,'This gene encodes a member of the SIGLEC (sialic acid binding immunoglobulin-like lectin) family of proteins. The encoded transmembrane receptor binds sialyl-TN glycans and leptin. Placental expression of the encoded protein is upregulated in preeclampsia. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(32368,'NCBI Gene PubMed Count',NULL,9455,NULL,NULL,NULL,13,NULL,NULL,NULL),(32369,'NCBI Gene PubMed Count',NULL,9456,NULL,NULL,NULL,38,NULL,NULL,NULL),(32370,'NCBI Gene PubMed Count',NULL,9457,NULL,NULL,NULL,18,NULL,NULL,NULL),(32371,'NCBI Gene PubMed Count',NULL,9458,NULL,NULL,NULL,5,NULL,NULL,NULL),(32372,'NCBI Gene PubMed Count',NULL,9459,NULL,NULL,NULL,8,NULL,NULL,NULL),(32373,'NCBI Gene Summary',NULL,9460,NULL,'This gene encodes a highly conserved small protein that contains a conserved motif (DUF4560) and may function as an integral membrane protein. This transcript was also shown to associate with enhancer chromatin and therefore may also function as an RNA to regulate enhancers. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(32374,'NCBI Gene PubMed Count',NULL,9460,NULL,NULL,NULL,8,NULL,NULL,NULL),(32375,'NCBI Gene PubMed Count',NULL,9461,NULL,NULL,NULL,1,NULL,NULL,NULL),(32376,'NCBI Gene Summary',NULL,9462,NULL,'This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(32377,'NCBI Gene PubMed Count',NULL,9462,NULL,NULL,NULL,18,NULL,NULL,NULL),(32378,'NCBI Gene Summary',NULL,9463,NULL,'SLC9A10 is a member of the sodium-hydrogen exchanger (NHE) family (see SLC9A1, MIM 107310) and is required for male fertility and sperm motility (Wang et al., 2003 [PubMed 14634667]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(32379,'NCBI Gene PubMed Count',NULL,9463,NULL,NULL,NULL,7,NULL,NULL,NULL),(32380,'NCBI Gene PubMed Count',NULL,9464,NULL,NULL,NULL,16,NULL,NULL,NULL),(32381,'NCBI Gene Summary',NULL,9465,NULL,'This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(32382,'NCBI Gene PubMed Count',NULL,9465,NULL,NULL,NULL,13,NULL,NULL,NULL),(32383,'NCBI Gene Summary',NULL,9466,NULL,'This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(32384,'NCBI Gene PubMed Count',NULL,9466,NULL,NULL,NULL,37,NULL,NULL,NULL),(32385,'NCBI Gene Summary',NULL,9467,NULL,'This gene encodes an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play a role in modulating neurite activity. Alternatively spliced transcript variants encoding the same protein have been described.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(32386,'NCBI Gene PubMed Count',NULL,9467,NULL,NULL,NULL,19,NULL,NULL,NULL),(32387,'NCBI Gene Summary',NULL,9468,NULL,'This gene encodes a transmembrane protein belonging to the the SLITRK family. These family members include two N-terminal leucine-rich repeat domains similar to those found in the axonal growth-controlling protein SLIT, as well as C-terminal regions similar to neurotrophin receptors. Studies of an homologous protein in mouse suggest that this family member functions to suppress neurite outgrowth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(32388,'NCBI Gene PubMed Count',NULL,9468,NULL,NULL,NULL,10,NULL,NULL,NULL),(32389,'NCBI Gene Summary',NULL,9469,NULL,'Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(32390,'NCBI Gene PubMed Count',NULL,9469,NULL,NULL,NULL,12,NULL,NULL,NULL),(32391,'NCBI Gene PubMed Count',NULL,9470,NULL,NULL,NULL,16,NULL,NULL,NULL),(32392,'NCBI Gene PubMed Count',NULL,9471,NULL,NULL,NULL,13,NULL,NULL,NULL),(32393,'NCBI Gene PubMed Count',NULL,9472,NULL,NULL,NULL,9,NULL,NULL,NULL),(32394,'NCBI Gene Summary',NULL,9473,NULL,'This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32395,'NCBI Gene PubMed Count',NULL,9473,NULL,NULL,NULL,46,NULL,NULL,NULL),(32396,'NCBI Gene Summary',NULL,9474,NULL,'This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(32397,'NCBI Gene PubMed Count',NULL,9474,NULL,NULL,NULL,12,NULL,NULL,NULL),(32398,'NCBI Gene Summary',NULL,9475,NULL,'The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32399,'NCBI Gene PubMed Count',NULL,9475,NULL,NULL,NULL,99,NULL,NULL,NULL),(32400,'NCBI Gene Summary',NULL,9476,NULL,'SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(32401,'NCBI Gene PubMed Count',NULL,9476,NULL,NULL,NULL,31,NULL,NULL,NULL),(32402,'NCBI Gene Summary',NULL,9477,NULL,'This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(32403,'NCBI Gene PubMed Count',NULL,9477,NULL,NULL,NULL,19,NULL,NULL,NULL),(32404,'NCBI Gene PubMed Count',NULL,9478,NULL,NULL,NULL,78,NULL,NULL,NULL),(32405,'NCBI Gene Summary',NULL,9479,NULL,'The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(32406,'NCBI Gene PubMed Count',NULL,9479,NULL,NULL,NULL,120,NULL,NULL,NULL),(32407,'NCBI Gene Summary',NULL,9480,NULL,'The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32408,'NCBI Gene PubMed Count',NULL,9480,NULL,NULL,NULL,29,NULL,NULL,NULL),(32409,'NCBI Gene Summary',NULL,9481,NULL,'This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(32410,'NCBI Gene PubMed Count',NULL,9481,NULL,NULL,NULL,46,NULL,NULL,NULL),(32411,'NCBI Gene Summary',NULL,9482,NULL,'The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP5, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(32412,'NCBI Gene PubMed Count',NULL,9482,NULL,NULL,NULL,13,NULL,NULL,NULL),(32413,'NCBI Gene PubMed Count',NULL,9483,NULL,NULL,NULL,4,NULL,NULL,NULL),(32414,'NCBI Gene PubMed Count',NULL,9484,NULL,NULL,NULL,8,NULL,NULL,NULL),(32415,'NCBI Gene Summary',NULL,9485,NULL,'This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(32416,'NCBI Gene PubMed Count',NULL,9485,NULL,NULL,NULL,14,NULL,NULL,NULL),(32417,'NCBI Gene PubMed Count',NULL,9486,NULL,NULL,NULL,12,NULL,NULL,NULL),(32418,'NCBI Gene PubMed Count',NULL,9487,NULL,NULL,NULL,21,NULL,NULL,NULL),(32419,'NCBI Gene Summary',NULL,9488,NULL,'The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32420,'NCBI Gene PubMed Count',NULL,9488,NULL,NULL,NULL,49,NULL,NULL,NULL),(32421,'NCBI Gene Summary',NULL,9489,NULL,'This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(32422,'NCBI Gene PubMed Count',NULL,9489,NULL,NULL,NULL,13,NULL,NULL,NULL),(32423,'NCBI Gene Summary',NULL,9491,NULL,'This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(32424,'NCBI Gene PubMed Count',NULL,9491,NULL,NULL,NULL,42,NULL,NULL,NULL),(32425,'NCBI Gene Summary',NULL,9492,NULL,'Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(32426,'NCBI Gene PubMed Count',NULL,9492,NULL,NULL,NULL,21,NULL,NULL,NULL),(32427,'NCBI Gene Summary',NULL,9493,NULL,'This gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilitates the formation of a contractile network within endothelial cells. Depletion of this gene results in an increase in endothelial sprouting, migration, and angiogenesis. This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(32428,'NCBI Gene PubMed Count',NULL,9493,NULL,NULL,NULL,15,NULL,NULL,NULL),(32429,'NCBI Gene PubMed Count',NULL,9494,NULL,NULL,NULL,2,NULL,NULL,NULL),(32430,'NCBI Gene PubMed Count',NULL,9495,NULL,NULL,NULL,4,NULL,NULL,NULL),(32431,'NCBI Gene Summary',NULL,9496,NULL,'This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(32432,'NCBI Gene PubMed Count',NULL,9496,NULL,NULL,NULL,37,NULL,NULL,NULL),(32433,'NCBI Gene PubMed Count',NULL,9497,NULL,NULL,NULL,9,NULL,NULL,NULL),(32434,'NCBI Gene PubMed Count',NULL,9498,NULL,NULL,NULL,5,NULL,NULL,NULL),(32435,'NCBI Gene PubMed Count',NULL,9499,NULL,NULL,NULL,4,NULL,NULL,NULL),(32436,'NCBI Gene PubMed Count',NULL,9500,NULL,NULL,NULL,10,NULL,NULL,NULL),(32437,'NCBI Gene PubMed Count',NULL,9501,NULL,NULL,NULL,36,NULL,NULL,NULL),(32438,'NCBI Gene PubMed Count',NULL,9502,NULL,NULL,NULL,1,NULL,NULL,NULL),(32439,'NCBI Gene Summary',NULL,9503,NULL,'The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32440,'NCBI Gene PubMed Count',NULL,9503,NULL,NULL,NULL,6,NULL,NULL,NULL),(32441,'NCBI Gene Summary',NULL,9504,NULL,'This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(32442,'NCBI Gene PubMed Count',NULL,9504,NULL,NULL,NULL,25,NULL,NULL,NULL),(32443,'NCBI Gene PubMed Count',NULL,9505,NULL,NULL,NULL,2,NULL,NULL,NULL),(32444,'NCBI Gene Summary',NULL,9506,NULL,'This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(32445,'NCBI Gene PubMed Count',NULL,9506,NULL,NULL,NULL,1036,NULL,NULL,NULL),(32446,'NCBI Gene Summary',NULL,9507,NULL,'This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32447,'NCBI Gene PubMed Count',NULL,9507,NULL,NULL,NULL,39,NULL,NULL,NULL),(32448,'NCBI Gene PubMed Count',NULL,9508,NULL,NULL,NULL,2,NULL,NULL,NULL),(32449,'NCBI Gene PubMed Count',NULL,9509,NULL,NULL,NULL,12,NULL,NULL,NULL),(32450,'NCBI Gene Summary',NULL,9510,NULL,'This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation signals, and are processed by endonucleolytic cleavage. The stem-loop structure is essential for efficient processing but this structure also controls the transport, translation and stability of histone mRNAs. Expression of the protein is regulated during the cell cycle, increasing more than 10-fold during the latter part of G1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32451,'NCBI Gene PubMed Count',NULL,9510,NULL,NULL,NULL,52,NULL,NULL,NULL),(32452,'NCBI Gene Summary',NULL,9511,NULL,'This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(32453,'NCBI Gene PubMed Count',NULL,9511,NULL,NULL,NULL,18,NULL,NULL,NULL),(32454,'NCBI Gene PubMed Count',NULL,9512,NULL,NULL,NULL,5,NULL,NULL,NULL),(32455,'NCBI Gene Summary',NULL,9513,NULL,'This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson\'s disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32456,'NCBI Gene PubMed Count',NULL,9513,NULL,NULL,NULL,116,NULL,NULL,NULL),(32457,'NCBI Gene Summary',NULL,9514,NULL,'This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(32458,'NCBI Gene PubMed Count',NULL,9514,NULL,NULL,NULL,25,NULL,NULL,NULL),(32459,'NCBI Gene Summary',NULL,9515,NULL,'This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(32460,'NCBI Gene PubMed Count',NULL,9515,NULL,NULL,NULL,14,NULL,NULL,NULL),(32461,'NCBI Gene Summary',NULL,9516,NULL,'This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(32462,'NCBI Gene PubMed Count',NULL,9516,NULL,NULL,NULL,19,NULL,NULL,NULL),(32463,'NCBI Gene PubMed Count',NULL,9517,NULL,NULL,NULL,3,NULL,NULL,NULL),(32464,'NCBI Gene PubMed Count',NULL,9518,NULL,NULL,NULL,24,NULL,NULL,NULL),(32465,'NCBI Gene PubMed Count',NULL,9519,NULL,NULL,NULL,43,NULL,NULL,NULL),(32466,'NCBI Gene Summary',NULL,9520,NULL,'This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(32467,'NCBI Gene PubMed Count',NULL,9520,NULL,NULL,NULL,29,NULL,NULL,NULL),(32468,'NCBI Gene PubMed Count',NULL,9521,NULL,NULL,NULL,37,NULL,NULL,NULL),(32469,'NCBI Gene Summary',NULL,9522,NULL,'This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(32470,'NCBI Gene PubMed Count',NULL,9522,NULL,NULL,NULL,90,NULL,NULL,NULL),(32471,'NCBI Gene Summary',NULL,9523,NULL,'This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(32472,'NCBI Gene PubMed Count',NULL,9523,NULL,NULL,NULL,37,NULL,NULL,NULL),(32473,'NCBI Gene PubMed Count',NULL,9524,NULL,NULL,NULL,17,NULL,NULL,NULL),(32474,'NCBI Gene PubMed Count',NULL,9525,NULL,NULL,NULL,28,NULL,NULL,NULL),(32475,'NCBI Gene Summary',NULL,9526,NULL,'The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32476,'NCBI Gene PubMed Count',NULL,9526,NULL,NULL,NULL,10,NULL,NULL,NULL),(32477,'NCBI Gene PubMed Count',NULL,9527,NULL,NULL,NULL,6,NULL,NULL,NULL),(32478,'NCBI Gene Summary',NULL,9528,NULL,'The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32479,'NCBI Gene PubMed Count',NULL,9528,NULL,NULL,NULL,37,NULL,NULL,NULL),(32480,'NCBI Gene Summary',NULL,9529,NULL,'SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(32481,'NCBI Gene PubMed Count',NULL,9529,NULL,NULL,NULL,13,NULL,NULL,NULL),(32482,'NCBI Gene Summary',NULL,9530,NULL,'This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(32483,'NCBI Gene PubMed Count',NULL,9530,NULL,NULL,NULL,8,NULL,NULL,NULL),(32484,'NCBI Gene PubMed Count',NULL,9531,NULL,NULL,NULL,2,NULL,NULL,NULL),(32485,'NCBI Gene PubMed Count',NULL,9532,NULL,NULL,NULL,7,NULL,NULL,NULL),(32486,'NCBI Gene PubMed Count',NULL,9533,NULL,NULL,NULL,6,NULL,NULL,NULL),(32487,'NCBI Gene PubMed Count',NULL,9534,NULL,NULL,NULL,21,NULL,NULL,NULL),(32488,'NCBI Gene Summary',NULL,9535,NULL,'The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(32489,'NCBI Gene PubMed Count',NULL,9535,NULL,NULL,NULL,78,NULL,NULL,NULL),(32490,'NCBI Gene Summary',NULL,9536,NULL,'This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32491,'NCBI Gene PubMed Count',NULL,9536,NULL,NULL,NULL,10,NULL,NULL,NULL),(32492,'NCBI Gene Summary',NULL,9537,NULL,'Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(32493,'NCBI Gene PubMed Count',NULL,9537,NULL,NULL,NULL,20,NULL,NULL,NULL),(32494,'NCBI Gene Summary',NULL,9538,NULL,'This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(32495,'NCBI Gene PubMed Count',NULL,9538,NULL,NULL,NULL,33,NULL,NULL,NULL),(32496,'NCBI Gene Summary',NULL,9539,NULL,'The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(32497,'NCBI Gene PubMed Count',NULL,9539,NULL,NULL,NULL,41,NULL,NULL,NULL),(32498,'NCBI Gene PubMed Count',NULL,9540,NULL,NULL,NULL,29,NULL,NULL,NULL),(32499,'NCBI Gene Summary',NULL,9541,NULL,'This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(32500,'NCBI Gene PubMed Count',NULL,9541,NULL,NULL,NULL,26,NULL,NULL,NULL),(32501,'NCBI Gene Summary',NULL,9542,NULL,'This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(32502,'NCBI Gene PubMed Count',NULL,9542,NULL,NULL,NULL,50,NULL,NULL,NULL),(32503,'NCBI Gene Summary',NULL,9543,NULL,'The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(32504,'NCBI Gene PubMed Count',NULL,9543,NULL,NULL,NULL,48,NULL,NULL,NULL),(32505,'NCBI Gene Summary',NULL,9544,NULL,'This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(32506,'NCBI Gene PubMed Count',NULL,9544,NULL,NULL,NULL,60,NULL,NULL,NULL),(32507,'NCBI Gene Summary',NULL,9545,NULL,'The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32508,'NCBI Gene PubMed Count',NULL,9545,NULL,NULL,NULL,34,NULL,NULL,NULL),(32509,'NCBI Gene PubMed Count',NULL,9546,NULL,NULL,NULL,6,NULL,NULL,NULL),(32510,'NCBI Gene Summary',NULL,9547,NULL,'This gene encodes an integral membrane protein. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it is a synaptic vesicle protein that also interacts with the dopamine transporter. The gene product belongs to the synaptogyrin gene family. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(32511,'NCBI Gene PubMed Count',NULL,9547,NULL,NULL,NULL,8,NULL,NULL,NULL),(32512,'NCBI Gene Summary',NULL,9548,NULL,'This gene produces a long RNA that is overexpressed in tumor cells. This RNA may promote tumorigenesis by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]',NULL,NULL,NULL,NULL,NULL),(32513,'NCBI Gene PubMed Count',NULL,9548,NULL,NULL,NULL,19,NULL,NULL,NULL),(32514,'NCBI Gene Summary',NULL,9549,NULL,'This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(32515,'NCBI Gene PubMed Count',NULL,9549,NULL,NULL,NULL,188,NULL,NULL,NULL),(32516,'NCBI Gene PubMed Count',NULL,9550,NULL,NULL,NULL,8,NULL,NULL,NULL),(32517,'NCBI Gene Summary',NULL,9551,NULL,'Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32518,'NCBI Gene PubMed Count',NULL,9551,NULL,NULL,NULL,57,NULL,NULL,NULL),(32519,'NCBI Gene Summary',NULL,9552,NULL,'This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(32520,'NCBI Gene PubMed Count',NULL,9552,NULL,NULL,NULL,95,NULL,NULL,NULL),(32521,'NCBI Gene PubMed Count',NULL,9553,NULL,NULL,NULL,4,NULL,NULL,NULL),(32522,'NCBI Gene Summary',NULL,9554,NULL,'This gene encodes a highly conserved nuclear protein involved in kinetochore function and required for the G1/S and G2/M transitions. This protein interacts with heat shock protein 90. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene have been defined on several different chromosomes. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(32523,'NCBI Gene PubMed Count',NULL,9554,NULL,NULL,NULL,38,NULL,NULL,NULL),(32524,'NCBI Gene PubMed Count',NULL,9555,NULL,NULL,NULL,13,NULL,NULL,NULL),(32525,'NCBI Gene Summary',NULL,9556,NULL,'This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32526,'NCBI Gene PubMed Count',NULL,9556,NULL,NULL,NULL,68,NULL,NULL,NULL),(32527,'NCBI Gene PubMed Count',NULL,9557,NULL,NULL,NULL,24,NULL,NULL,NULL),(32528,'NCBI Gene PubMed Count',NULL,9558,NULL,NULL,NULL,5,NULL,NULL,NULL),(32529,'NCBI Gene PubMed Count',NULL,9559,NULL,NULL,NULL,9,NULL,NULL,NULL),(32530,'NCBI Gene PubMed Count',NULL,9560,NULL,NULL,NULL,37,NULL,NULL,NULL),(32531,'NCBI Gene Summary',NULL,9561,NULL,'Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32532,'NCBI Gene PubMed Count',NULL,9561,NULL,NULL,NULL,36,NULL,NULL,NULL),(32533,'NCBI Gene Summary',NULL,9562,NULL,'ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(32534,'NCBI Gene PubMed Count',NULL,9562,NULL,NULL,NULL,10,NULL,NULL,NULL),(32535,'NCBI Gene PubMed Count',NULL,9563,NULL,NULL,NULL,4,NULL,NULL,NULL),(32536,'NCBI Gene Summary',NULL,9564,NULL,'Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010]',NULL,NULL,NULL,NULL,NULL),(32537,'NCBI Gene PubMed Count',NULL,9564,NULL,NULL,NULL,30,NULL,NULL,NULL),(32538,'NCBI Gene PubMed Count',NULL,9565,NULL,NULL,NULL,4,NULL,NULL,NULL),(32539,'NCBI Gene Summary',NULL,9566,NULL,'The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(32540,'NCBI Gene PubMed Count',NULL,9566,NULL,NULL,NULL,23,NULL,NULL,NULL),(32541,'NCBI Gene PubMed Count',NULL,9567,NULL,NULL,NULL,1,NULL,NULL,NULL),(32542,'NCBI Gene PubMed Count',NULL,9568,NULL,NULL,NULL,8,NULL,NULL,NULL),(32543,'NCBI Gene Summary',NULL,9569,NULL,'The protein encoded by this gene is a member of the signal-regulatory protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32544,'NCBI Gene PubMed Count',NULL,9569,NULL,NULL,NULL,17,NULL,NULL,NULL),(32545,'NCBI Gene Summary',NULL,9570,NULL,'The protein encoded by this gene is a homeobox protein that is similar to the Drosophila \'sine oculis\' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32546,'NCBI Gene PubMed Count',NULL,9570,NULL,NULL,NULL,116,NULL,NULL,NULL),(32547,'NCBI Gene PubMed Count',NULL,9571,NULL,NULL,NULL,5,NULL,NULL,NULL),(32548,'NCBI Gene Summary',NULL,9572,NULL,'The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(32549,'NCBI Gene PubMed Count',NULL,9572,NULL,NULL,NULL,24,NULL,NULL,NULL),(32550,'NCBI Gene PubMed Count',NULL,9573,NULL,NULL,NULL,5,NULL,NULL,NULL),(32551,'NCBI Gene Summary',NULL,9574,NULL,'Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(32552,'NCBI Gene PubMed Count',NULL,9574,NULL,NULL,NULL,13,NULL,NULL,NULL),(32553,'NCBI Gene PubMed Count',NULL,9575,NULL,NULL,NULL,9,NULL,NULL,NULL),(32554,'NCBI Gene PubMed Count',NULL,9576,NULL,NULL,NULL,12,NULL,NULL,NULL),(32555,'NCBI Gene Summary',NULL,9577,NULL,'This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(32556,'NCBI Gene PubMed Count',NULL,9577,NULL,NULL,NULL,105,NULL,NULL,NULL),(32557,'NCBI Gene PubMed Count',NULL,9578,NULL,NULL,NULL,24,NULL,NULL,NULL),(32558,'NCBI Gene PubMed Count',NULL,9579,NULL,NULL,NULL,31,NULL,NULL,NULL),(32559,'NCBI Gene PubMed Count',NULL,9580,NULL,NULL,NULL,5,NULL,NULL,NULL),(32560,'NCBI Gene Summary',NULL,9581,NULL,'This gene encodes a member of the Slitrk family of structurally related transmembrane proteins that are involved in controlling neurite outgrowth. The encoded protein contains two leucine-rich repeat (LRR) domains and a C-terminal domain that is partially similar to Trk neurotrophin receptor protein. Enhanced expression of this gene was found in tissue from several different types of tumors. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(32561,'NCBI Gene PubMed Count',NULL,9581,NULL,NULL,NULL,10,NULL,NULL,NULL),(32562,'NCBI Gene PubMed Count',NULL,9582,NULL,NULL,NULL,5,NULL,NULL,NULL),(32563,'NCBI Gene PubMed Count',NULL,9583,NULL,NULL,NULL,11,NULL,NULL,NULL),(32564,'NCBI Gene PubMed Count',NULL,9584,NULL,NULL,NULL,0,NULL,NULL,NULL),(32565,'NCBI Gene PubMed Count',NULL,9585,NULL,NULL,NULL,15,NULL,NULL,NULL),(32566,'NCBI Gene Summary',NULL,9586,NULL,'The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32567,'NCBI Gene PubMed Count',NULL,9586,NULL,NULL,NULL,57,NULL,NULL,NULL),(32568,'NCBI Gene PubMed Count',NULL,9587,NULL,NULL,NULL,6,NULL,NULL,NULL),(32569,'NCBI Gene PubMed Count',NULL,9588,NULL,NULL,NULL,15,NULL,NULL,NULL),(32570,'NCBI Gene Summary',NULL,9589,NULL,'This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(32571,'NCBI Gene PubMed Count',NULL,9589,NULL,NULL,NULL,51,NULL,NULL,NULL),(32572,'NCBI Gene Summary',NULL,9590,NULL,'Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3\' UTR and contain tandem repeat sequences at the 5\' flank and 3\' UTR which are thought to play a role in regulation of the mRNA stability. Although this gene may be an exception, most of the tryptase genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32573,'NCBI Gene PubMed Count',NULL,9590,NULL,NULL,NULL,13,NULL,NULL,NULL),(32574,'NCBI Gene Summary',NULL,9591,NULL,'Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. There is uncertainty regarding the number of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32575,'NCBI Gene PubMed Count',NULL,9591,NULL,NULL,NULL,7,NULL,NULL,NULL),(32576,'NCBI Gene Summary',NULL,9592,NULL,'This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32577,'NCBI Gene PubMed Count',NULL,9592,NULL,NULL,NULL,176,NULL,NULL,NULL),(32578,'NCBI Gene PubMed Count',NULL,9593,NULL,NULL,NULL,10,NULL,NULL,NULL),(32579,'NCBI Gene PubMed Count',NULL,9594,NULL,NULL,NULL,42,NULL,NULL,NULL),(32580,'NCBI Gene PubMed Count',NULL,9595,NULL,NULL,NULL,8,NULL,NULL,NULL),(32581,'NCBI Gene Summary',NULL,9596,NULL,'The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. This gene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels of this protein are found in the synovial fluid of patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(32582,'NCBI Gene PubMed Count',NULL,9596,NULL,NULL,NULL,78,NULL,NULL,NULL),(32583,'NCBI Gene Summary',NULL,9597,NULL,'This gene is a member of the teashirt C2H2-type zinc-finger protein family of transcription factors. This gene encodes a protein with five C2H2-type zinc fingers, a homeobox DNA-binding domain and a coiled-coil domain. This nuclear protein is predicted to act as a transcriptional repressor. This gene is thought to play a role in the development and progression of breast and other types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(32584,'NCBI Gene PubMed Count',NULL,9597,NULL,NULL,NULL,18,NULL,NULL,NULL),(32585,'NCBI Gene Summary',NULL,9598,NULL,'The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(32586,'NCBI Gene PubMed Count',NULL,9598,NULL,NULL,NULL,340,NULL,NULL,NULL),(32587,'NCBI Gene Summary',NULL,9599,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32588,'NCBI Gene PubMed Count',NULL,9599,NULL,NULL,NULL,18,NULL,NULL,NULL),(32589,'NCBI Gene Summary',NULL,9600,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(32590,'NCBI Gene PubMed Count',NULL,9600,NULL,NULL,NULL,5,NULL,NULL,NULL),(32591,'NCBI Gene PubMed Count',NULL,9601,NULL,NULL,NULL,8,NULL,NULL,NULL),(32592,'NCBI Gene PubMed Count',NULL,9602,NULL,NULL,NULL,4,NULL,NULL,NULL),(32593,'NCBI Gene Summary',NULL,9603,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32594,'NCBI Gene PubMed Count',NULL,9603,NULL,NULL,NULL,36,NULL,NULL,NULL),(32595,'NCBI Gene Summary',NULL,9604,NULL,'This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32596,'NCBI Gene PubMed Count',NULL,9604,NULL,NULL,NULL,35,NULL,NULL,NULL),(32597,'NCBI Gene Summary',NULL,9605,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Multiple alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(32598,'NCBI Gene PubMed Count',NULL,9605,NULL,NULL,NULL,15,NULL,NULL,NULL),(32599,'NCBI Gene PubMed Count',NULL,9606,NULL,NULL,NULL,7,NULL,NULL,NULL),(32600,'NCBI Gene Summary',NULL,9607,NULL,'The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32601,'NCBI Gene PubMed Count',NULL,9607,NULL,NULL,NULL,452,NULL,NULL,NULL),(32602,'NCBI Gene Summary',NULL,9608,NULL,'The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32603,'NCBI Gene PubMed Count',NULL,9608,NULL,NULL,NULL,95,NULL,NULL,NULL),(32604,'NCBI Gene PubMed Count',NULL,9609,NULL,NULL,NULL,2,NULL,NULL,NULL),(32605,'NCBI Gene PubMed Count',NULL,9610,NULL,NULL,NULL,6,NULL,NULL,NULL),(32606,'NCBI Gene Summary',NULL,9611,NULL,'TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(32607,'NCBI Gene PubMed Count',NULL,9611,NULL,NULL,NULL,15,NULL,NULL,NULL),(32608,'NCBI Gene Summary',NULL,9612,NULL,'This gene encodes a member of the testis-specific protein Y-encoded, TSPY-like/SET/nucleosome assembly protein-1 superfamily. The encoded protein is localized to the nucleolus where it functions in chromatin remodeling and as an inhibitor of cell-cycle progression. This protein may play a role in the suppression of tumor growth. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(32609,'NCBI Gene PubMed Count',NULL,9612,NULL,NULL,NULL,33,NULL,NULL,NULL),(32610,'NCBI Gene Summary',NULL,9613,NULL,'This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(32611,'NCBI Gene PubMed Count',NULL,9613,NULL,NULL,NULL,35,NULL,NULL,NULL),(32612,'NCBI Gene PubMed Count',NULL,9614,NULL,NULL,NULL,15,NULL,NULL,NULL),(32613,'NCBI Gene PubMed Count',NULL,9615,NULL,NULL,NULL,5,NULL,NULL,NULL),(32614,'NCBI Gene PubMed Count',NULL,9616,NULL,NULL,NULL,5,NULL,NULL,NULL),(32615,'NCBI Gene Summary',NULL,9617,NULL,'This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32616,'NCBI Gene PubMed Count',NULL,9617,NULL,NULL,NULL,14,NULL,NULL,NULL),(32617,'NCBI Gene PubMed Count',NULL,9618,NULL,NULL,NULL,11,NULL,NULL,NULL),(32618,'NCBI Gene PubMed Count',NULL,9619,NULL,NULL,NULL,5,NULL,NULL,NULL),(32619,'NCBI Gene PubMed Count',NULL,9620,NULL,NULL,NULL,1,NULL,NULL,NULL),(32620,'NCBI Gene PubMed Count',NULL,9621,NULL,NULL,NULL,7,NULL,NULL,NULL),(32621,'NCBI Gene PubMed Count',NULL,9622,NULL,NULL,NULL,1,NULL,NULL,NULL),(32622,'NCBI Gene Summary',NULL,9623,NULL,'This gene encodes a protein that contains three tetratricopeptide repeats. The gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(32623,'NCBI Gene PubMed Count',NULL,9623,NULL,NULL,NULL,8,NULL,NULL,NULL),(32624,'NCBI Gene PubMed Count',NULL,9624,NULL,NULL,NULL,4,NULL,NULL,NULL),(32625,'NCBI Gene PubMed Count',NULL,9625,NULL,NULL,NULL,17,NULL,NULL,NULL),(32626,'NCBI Gene PubMed Count',NULL,9626,NULL,NULL,NULL,6,NULL,NULL,NULL),(32627,'NCBI Gene Summary',NULL,9627,NULL,'This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32628,'NCBI Gene PubMed Count',NULL,9627,NULL,NULL,NULL,13,NULL,NULL,NULL),(32629,'NCBI Gene Summary',NULL,9628,NULL,'This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(32630,'NCBI Gene PubMed Count',NULL,9628,NULL,NULL,NULL,8,NULL,NULL,NULL),(32631,'NCBI Gene Summary',NULL,9629,NULL,'This gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(32632,'NCBI Gene PubMed Count',NULL,9629,NULL,NULL,NULL,119,NULL,NULL,NULL),(32633,'NCBI Gene Summary',NULL,9630,NULL,'This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(32634,'NCBI Gene PubMed Count',NULL,9630,NULL,NULL,NULL,39,NULL,NULL,NULL),(32635,'NCBI Gene PubMed Count',NULL,9631,NULL,NULL,NULL,7,NULL,NULL,NULL),(32636,'NCBI Gene PubMed Count',NULL,9632,NULL,NULL,NULL,2,NULL,NULL,NULL),(32637,'NCBI Gene PubMed Count',NULL,9633,NULL,NULL,NULL,1,NULL,NULL,NULL),(32638,'NCBI Gene Summary',NULL,9634,NULL,'This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(32639,'NCBI Gene PubMed Count',NULL,9634,NULL,NULL,NULL,12,NULL,NULL,NULL),(32640,'NCBI Gene Summary',NULL,9635,NULL,'Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(32641,'NCBI Gene PubMed Count',NULL,9635,NULL,NULL,NULL,24,NULL,NULL,NULL),(32642,'NCBI Gene Summary',NULL,9636,NULL,'This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(32643,'NCBI Gene PubMed Count',NULL,9636,NULL,NULL,NULL,43,NULL,NULL,NULL),(32644,'NCBI Gene Summary',NULL,9637,NULL,'This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(32645,'NCBI Gene PubMed Count',NULL,9637,NULL,NULL,NULL,15,NULL,NULL,NULL),(32646,'NCBI Gene Summary',NULL,9638,NULL,'ZCCHC11 is an RNA uridyltransferase (EC 2.7.7.52) that uses UTP to add uridines to the 3-prime end of substrate RNA molecules (Jones et al., 2009 [PubMed 19701194]).[supplied by OMIM, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(32647,'NCBI Gene PubMed Count',NULL,9638,NULL,NULL,NULL,29,NULL,NULL,NULL),(32648,'NCBI Gene Summary',NULL,9639,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32649,'NCBI Gene PubMed Count',NULL,9639,NULL,NULL,NULL,2,NULL,NULL,NULL),(32650,'NCBI Gene PubMed Count',NULL,9640,NULL,NULL,NULL,26,NULL,NULL,NULL),(32651,'NCBI Gene PubMed Count',NULL,9641,NULL,NULL,NULL,8,NULL,NULL,NULL),(32652,'NCBI Gene Summary',NULL,9642,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32653,'NCBI Gene PubMed Count',NULL,9642,NULL,NULL,NULL,1,NULL,NULL,NULL),(32654,'NCBI Gene Summary',NULL,9643,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32655,'NCBI Gene PubMed Count',NULL,9643,NULL,NULL,NULL,1,NULL,NULL,NULL),(32656,'NCBI Gene Summary',NULL,9644,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32657,'NCBI Gene PubMed Count',NULL,9644,NULL,NULL,NULL,3,NULL,NULL,NULL),(32658,'NCBI Gene PubMed Count',NULL,9645,NULL,NULL,NULL,3,NULL,NULL,NULL),(32659,'NCBI Gene PubMed Count',NULL,9646,NULL,NULL,NULL,3,NULL,NULL,NULL),(32660,'NCBI Gene Summary',NULL,9647,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32661,'NCBI Gene PubMed Count',NULL,9647,NULL,NULL,NULL,1,NULL,NULL,NULL),(32662,'NCBI Gene PubMed Count',NULL,9648,NULL,NULL,NULL,1,NULL,NULL,NULL),(32663,'NCBI Gene PubMed Count',NULL,9649,NULL,NULL,NULL,2,NULL,NULL,NULL),(32664,'NCBI Gene Summary',NULL,9650,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32665,'NCBI Gene PubMed Count',NULL,9650,NULL,NULL,NULL,2,NULL,NULL,NULL),(32666,'NCBI Gene Summary',NULL,9651,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32667,'NCBI Gene PubMed Count',NULL,9651,NULL,NULL,NULL,2,NULL,NULL,NULL),(32668,'NCBI Gene Summary',NULL,9652,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32669,'NCBI Gene PubMed Count',NULL,9652,NULL,NULL,NULL,1,NULL,NULL,NULL),(32670,'NCBI Gene Summary',NULL,9653,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32671,'NCBI Gene PubMed Count',NULL,9653,NULL,NULL,NULL,1,NULL,NULL,NULL),(32672,'NCBI Gene PubMed Count',NULL,9654,NULL,NULL,NULL,3,NULL,NULL,NULL),(32673,'NCBI Gene PubMed Count',NULL,9655,NULL,NULL,NULL,4,NULL,NULL,NULL),(32674,'NCBI Gene PubMed Count',NULL,9656,NULL,NULL,NULL,5,NULL,NULL,NULL),(32675,'NCBI Gene PubMed Count',NULL,9657,NULL,NULL,NULL,3,NULL,NULL,NULL),(32676,'NCBI Gene PubMed Count',NULL,9658,NULL,NULL,NULL,0,NULL,NULL,NULL),(32677,'NCBI Gene PubMed Count',NULL,9659,NULL,NULL,NULL,1,NULL,NULL,NULL),(32678,'NCBI Gene PubMed Count',NULL,9660,NULL,NULL,NULL,15,NULL,NULL,NULL),(32679,'NCBI Gene PubMed Count',NULL,9661,NULL,NULL,NULL,12,NULL,NULL,NULL),(32680,'NCBI Gene PubMed Count',NULL,9662,NULL,NULL,NULL,9,NULL,NULL,NULL),(32681,'NCBI Gene Summary',NULL,9663,NULL,'This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(32682,'NCBI Gene PubMed Count',NULL,9663,NULL,NULL,NULL,39,NULL,NULL,NULL),(32683,'NCBI Gene Summary',NULL,9664,NULL,'This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32684,'NCBI Gene PubMed Count',NULL,9664,NULL,NULL,NULL,39,NULL,NULL,NULL),(32685,'NCBI Gene Summary',NULL,9665,NULL,'This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(32686,'NCBI Gene PubMed Count',NULL,9665,NULL,NULL,NULL,20,NULL,NULL,NULL),(32687,'NCBI Gene PubMed Count',NULL,9666,NULL,NULL,NULL,5,NULL,NULL,NULL),(32688,'NCBI Gene Summary',NULL,9667,NULL,'This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(32689,'NCBI Gene PubMed Count',NULL,9667,NULL,NULL,NULL,9,NULL,NULL,NULL),(32690,'NCBI Gene PubMed Count',NULL,9668,NULL,NULL,NULL,4,NULL,NULL,NULL),(32691,'NCBI Gene Summary',NULL,9669,NULL,'The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32692,'NCBI Gene PubMed Count',NULL,9669,NULL,NULL,NULL,202,NULL,NULL,NULL),(32693,'NCBI Gene Summary',NULL,9670,NULL,'This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(32694,'NCBI Gene PubMed Count',NULL,9670,NULL,NULL,NULL,608,NULL,NULL,NULL),(32695,'NCBI Gene Summary',NULL,9671,NULL,'The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(32696,'NCBI Gene PubMed Count',NULL,9671,NULL,NULL,NULL,26,NULL,NULL,NULL),(32697,'NCBI Gene Summary',NULL,9672,NULL,'This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(32698,'NCBI Gene PubMed Count',NULL,9672,NULL,NULL,NULL,23,NULL,NULL,NULL),(32699,'NCBI Gene Summary',NULL,9673,NULL,'This gene product plays a role in vesicular transport of proteins to the Golgi apparatus from the endoplasmic reticulum. The encoded protein is a component of the multisubunit transport protein particle (TRAPP) complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(32700,'NCBI Gene PubMed Count',NULL,9673,NULL,NULL,NULL,11,NULL,NULL,NULL),(32701,'NCBI Gene Summary',NULL,9674,NULL,'TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(32702,'NCBI Gene PubMed Count',NULL,9674,NULL,NULL,NULL,17,NULL,NULL,NULL),(32703,'NCBI Gene Summary',NULL,9675,NULL,'This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(32704,'NCBI Gene PubMed Count',NULL,9675,NULL,NULL,NULL,500,NULL,NULL,NULL),(32705,'NCBI Gene PubMed Count',NULL,9676,NULL,NULL,NULL,1,NULL,NULL,NULL),(32706,'NCBI Gene PubMed Count',NULL,9677,NULL,NULL,NULL,4,NULL,NULL,NULL),(32707,'NCBI Gene PubMed Count',NULL,9678,NULL,NULL,NULL,2,NULL,NULL,NULL),(32708,'NCBI Gene PubMed Count',NULL,9679,NULL,NULL,NULL,7,NULL,NULL,NULL),(32709,'NCBI Gene PubMed Count',NULL,9680,NULL,NULL,NULL,1,NULL,NULL,NULL),(32710,'NCBI Gene Summary',NULL,9681,NULL,'This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32711,'NCBI Gene PubMed Count',NULL,9681,NULL,NULL,NULL,10,NULL,NULL,NULL),(32712,'NCBI Gene PubMed Count',NULL,9682,NULL,NULL,NULL,1,NULL,NULL,NULL),(32713,'NCBI Gene Summary',NULL,9683,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32714,'NCBI Gene PubMed Count',NULL,9683,NULL,NULL,NULL,2,NULL,NULL,NULL),(32715,'NCBI Gene Summary',NULL,9684,NULL,'This locus represents naturally occurring readthrough transcription between the neighboring TVP23C (trans-golgi network vesicle protein 23 homolog) and CDRT4 (CMT1A duplicated region transcript 4) genes on chromosome 17. Alternative splicing results in multiple transcript variants, one of which encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(32716,'NCBI Gene PubMed Count',NULL,9684,NULL,NULL,NULL,3,NULL,NULL,NULL),(32717,'NCBI Gene PubMed Count',NULL,9685,NULL,NULL,NULL,3,NULL,NULL,NULL),(32718,'NCBI Gene PubMed Count',NULL,9686,NULL,NULL,NULL,1,NULL,NULL,NULL),(32719,'NCBI Gene PubMed Count',NULL,9687,NULL,NULL,NULL,9,NULL,NULL,NULL),(32720,'NCBI Gene PubMed Count',NULL,9688,NULL,NULL,NULL,2,NULL,NULL,NULL),(32721,'NCBI Gene PubMed Count',NULL,9689,NULL,NULL,NULL,2,NULL,NULL,NULL),(32722,'NCBI Gene PubMed Count',NULL,9690,NULL,NULL,NULL,4,NULL,NULL,NULL),(32723,'NCBI Gene PubMed Count',NULL,9691,NULL,NULL,NULL,9,NULL,NULL,NULL),(32724,'NCBI Gene PubMed Count',NULL,9692,NULL,NULL,NULL,4,NULL,NULL,NULL),(32725,'NCBI Gene PubMed Count',NULL,9693,NULL,NULL,NULL,3,NULL,NULL,NULL),(32726,'NCBI Gene Summary',NULL,9694,NULL,'This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32727,'NCBI Gene PubMed Count',NULL,9694,NULL,NULL,NULL,22,NULL,NULL,NULL),(32728,'NCBI Gene PubMed Count',NULL,9695,NULL,NULL,NULL,20,NULL,NULL,NULL),(32729,'NCBI Gene Summary',NULL,9696,NULL,'The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32730,'NCBI Gene PubMed Count',NULL,9696,NULL,NULL,NULL,23,NULL,NULL,NULL),(32731,'NCBI Gene Summary',NULL,9697,NULL,'This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(32732,'NCBI Gene PubMed Count',NULL,9697,NULL,NULL,NULL,538,NULL,NULL,NULL),(32733,'NCBI Gene Summary',NULL,9698,NULL,'This gene encodes a small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect cell signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this gene has been implicated in altered cancer cell adhesion, migration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(32734,'NCBI Gene PubMed Count',NULL,9698,NULL,NULL,NULL,27,NULL,NULL,NULL),(32735,'NCBI Gene PubMed Count',NULL,9699,NULL,NULL,NULL,34,NULL,NULL,NULL),(32736,'NCBI Gene Summary',NULL,9700,NULL,'This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(32737,'NCBI Gene PubMed Count',NULL,9700,NULL,NULL,NULL,12,NULL,NULL,NULL),(32738,'NCBI Gene PubMed Count',NULL,9701,NULL,NULL,NULL,7,NULL,NULL,NULL),(32739,'NCBI Gene Summary',NULL,9702,NULL,'YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters.  YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32740,'NCBI Gene PubMed Count',NULL,9702,NULL,NULL,NULL,263,NULL,NULL,NULL),(32741,'NCBI Gene Summary',NULL,9703,NULL,'The protein encoded by this gene is a homolog of the U1-snRNP binding protein. The N-terminal half contains a RNA recognition motif and the C-terminal half is rich in Arg/Asp and Arg/Glu dipeptides, which is a characteristic of a variety of splicing factors. This protein is a component of the U11/U12 small nuclear ribonucleoproteins (snRNP) that form part of the U12-type spliceosome. Alternative splicing results in multiple transcript variants encoding two distinct isoforms and representing a non-protein coding variant. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(32742,'NCBI Gene PubMed Count',NULL,9703,NULL,NULL,NULL,10,NULL,NULL,NULL),(32743,'NCBI Gene PubMed Count',NULL,9704,NULL,NULL,NULL,5,NULL,NULL,NULL),(32744,'NCBI Gene Summary',NULL,9705,NULL,'This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32745,'NCBI Gene PubMed Count',NULL,9705,NULL,NULL,NULL,55,NULL,NULL,NULL),(32746,'NCBI Gene Summary',NULL,9706,NULL,'This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(32747,'NCBI Gene PubMed Count',NULL,9706,NULL,NULL,NULL,196,NULL,NULL,NULL),(32748,'NCBI Gene PubMed Count',NULL,9707,NULL,NULL,NULL,9,NULL,NULL,NULL),(32749,'NCBI Gene PubMed Count',NULL,9708,NULL,NULL,NULL,35,NULL,NULL,NULL),(32750,'NCBI Gene Summary',NULL,9709,NULL,'This gene belongs to the trypsin family of serine proteases and encodes anionic trypsinogen. It is part of a cluster of trypsinogen genes that are located within the T cell receptor beta locus. Enzymes of this family cleave peptide bonds that follow lysine or arginine residues. This protein is found at high levels in pancreatic juice and its upregulation is a characteristic feature of pancreatitis. This protein has also been found to activate pro-urokinase in ovarian tumors, suggesting a function in tumor invasion. In addition, this enzyme is able to cleave across the type II collagen triple helix in rheumatoid arthritis synovitis tissue, potentially participating in the degradation of type II collagen-rich cartilage matrix. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(32751,'NCBI Gene PubMed Count',NULL,9709,NULL,NULL,NULL,56,NULL,NULL,NULL),(32752,'NCBI Gene Summary',NULL,9710,NULL,'This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(32753,'NCBI Gene PubMed Count',NULL,9710,NULL,NULL,NULL,9,NULL,NULL,NULL),(32754,'NCBI Gene PubMed Count',NULL,9711,NULL,NULL,NULL,20,NULL,NULL,NULL),(32755,'NCBI Gene Summary',NULL,9712,NULL,'The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto\'s thyroiditis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(32756,'NCBI Gene PubMed Count',NULL,9712,NULL,NULL,NULL,86,NULL,NULL,NULL),(32757,'NCBI Gene Summary',NULL,9713,NULL,'This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32758,'NCBI Gene PubMed Count',NULL,9713,NULL,NULL,NULL,10,NULL,NULL,NULL),(32759,'NCBI Gene PubMed Count',NULL,9714,NULL,NULL,NULL,11,NULL,NULL,NULL),(32760,'NCBI Gene Summary',NULL,9715,NULL,'This gene encodes a hemopoietic cytokine proposed to signal through a heterodimeric receptor complex composed of the thymic stromal lymphopoietin receptor and the IL-7R alpha chain. It mainly impacts myeloid cells and induces the release of T cell-attracting chemokines from monocytes and enhances the maturation of CD11c(+) dendritic cells. The protein promotes T helper type 2 (TH2) cell responses that are associated with immunity in various inflammatory diseases, including asthma, allergic inflammation and chronic obstructive pulmonary disease. The protein is therefore considered a potential therapeutic target for the treatment of such diseases. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(32761,'NCBI Gene PubMed Count',NULL,9715,NULL,NULL,NULL,251,NULL,NULL,NULL),(32762,'NCBI Gene Summary',NULL,9716,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32763,'NCBI Gene PubMed Count',NULL,9716,NULL,NULL,NULL,65,NULL,NULL,NULL),(32764,'NCBI Gene Summary',NULL,9717,NULL,'This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32765,'NCBI Gene PubMed Count',NULL,9717,NULL,NULL,NULL,14,NULL,NULL,NULL),(32766,'NCBI Gene PubMed Count',NULL,9718,NULL,NULL,NULL,11,NULL,NULL,NULL),(32767,'NCBI Gene Summary',NULL,9719,NULL,'The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(32768,'NCBI Gene PubMed Count',NULL,9719,NULL,NULL,NULL,12,NULL,NULL,NULL),(32769,'NCBI Gene Summary',NULL,9720,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(32770,'NCBI Gene PubMed Count',NULL,9720,NULL,NULL,NULL,22,NULL,NULL,NULL),(32771,'NCBI Gene Summary',NULL,9721,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked cognitive disability and neuropsychiatric diseases such as Huntington\'s chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32772,'NCBI Gene PubMed Count',NULL,9721,NULL,NULL,NULL,29,NULL,NULL,NULL),(32773,'NCBI Gene Summary',NULL,9722,NULL,'This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is located among several imprinted genes; however, this gene, as well as the pan-hematopoietic expression gene (PHEMX), escapes imprinting. This gene may play a role in malignancies and disease that involve this region. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(32774,'NCBI Gene PubMed Count',NULL,9722,NULL,NULL,NULL,11,NULL,NULL,NULL),(32775,'NCBI Gene PubMed Count',NULL,9723,NULL,NULL,NULL,3,NULL,NULL,NULL),(32776,'NCBI Gene Summary',NULL,9724,NULL,'This gene encodes a kinase expressed exclusively in the testis that is thought to play a role in either germ cell differentiation or mature sperm function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32777,'NCBI Gene PubMed Count',NULL,9724,NULL,NULL,NULL,7,NULL,NULL,NULL),(32778,'NCBI Gene PubMed Count',NULL,9725,NULL,NULL,NULL,8,NULL,NULL,NULL),(32779,'NCBI Gene PubMed Count',NULL,9726,NULL,NULL,NULL,8,NULL,NULL,NULL),(32780,'NCBI Gene PubMed Count',NULL,9727,NULL,NULL,NULL,5,NULL,NULL,NULL),(32781,'NCBI Gene Summary',NULL,9728,NULL,'This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(32782,'NCBI Gene PubMed Count',NULL,9728,NULL,NULL,NULL,13,NULL,NULL,NULL),(32783,'NCBI Gene PubMed Count',NULL,9729,NULL,NULL,NULL,6,NULL,NULL,NULL),(32784,'NCBI Gene PubMed Count',NULL,9730,NULL,NULL,NULL,5,NULL,NULL,NULL),(32785,'NCBI Gene Summary',NULL,9731,NULL,'This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(32786,'NCBI Gene PubMed Count',NULL,9731,NULL,NULL,NULL,27,NULL,NULL,NULL),(32787,'NCBI Gene Summary',NULL,9732,NULL,'This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(32788,'NCBI Gene PubMed Count',NULL,9732,NULL,NULL,NULL,12,NULL,NULL,NULL),(32789,'NCBI Gene PubMed Count',NULL,9733,NULL,NULL,NULL,6,NULL,NULL,NULL),(32790,'NCBI Gene PubMed Count',NULL,9734,NULL,NULL,NULL,3,NULL,NULL,NULL),(32791,'NCBI Gene PubMed Count',NULL,9735,NULL,NULL,NULL,15,NULL,NULL,NULL),(32792,'NCBI Gene Summary',NULL,9736,NULL,'This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(32793,'NCBI Gene PubMed Count',NULL,9736,NULL,NULL,NULL,20,NULL,NULL,NULL),(32794,'NCBI Gene PubMed Count',NULL,9737,NULL,NULL,NULL,6,NULL,NULL,NULL),(32795,'NCBI Gene PubMed Count',NULL,9738,NULL,NULL,NULL,11,NULL,NULL,NULL),(32796,'NCBI Gene PubMed Count',NULL,9739,NULL,NULL,NULL,9,NULL,NULL,NULL),(32797,'NCBI Gene PubMed Count',NULL,9740,NULL,NULL,NULL,11,NULL,NULL,NULL),(32798,'NCBI Gene PubMed Count',NULL,9741,NULL,NULL,NULL,6,NULL,NULL,NULL),(32799,'NCBI Gene PubMed Count',NULL,9742,NULL,NULL,NULL,9,NULL,NULL,NULL),(32800,'NCBI Gene Summary',NULL,9743,NULL,'This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32801,'NCBI Gene PubMed Count',NULL,9743,NULL,NULL,NULL,9,NULL,NULL,NULL),(32802,'NCBI Gene Summary',NULL,9744,NULL,'This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32803,'NCBI Gene PubMed Count',NULL,9744,NULL,NULL,NULL,27,NULL,NULL,NULL),(32804,'NCBI Gene PubMed Count',NULL,9746,NULL,NULL,NULL,12,NULL,NULL,NULL),(32805,'NCBI Gene Summary',NULL,9747,NULL,'This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is an intronless gene which is downregulated in non-small-cell lung cancer and small-cell lung cancer cell lines, suggesting that it may play a role in lung tumorigenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32806,'NCBI Gene PubMed Count',NULL,9747,NULL,NULL,NULL,14,NULL,NULL,NULL),(32807,'NCBI Gene Summary',NULL,9748,NULL,'This gene is a highly conserved lung cancer candidate gene. No other information about this gene is currently available. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32808,'NCBI Gene PubMed Count',NULL,9748,NULL,NULL,NULL,26,NULL,NULL,NULL),(32809,'NCBI Gene Summary',NULL,9749,NULL,'This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]',NULL,NULL,NULL,NULL,NULL),(32810,'NCBI Gene PubMed Count',NULL,9749,NULL,NULL,NULL,44,NULL,NULL,NULL),(32811,'NCBI Gene Summary',NULL,9750,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32812,'NCBI Gene PubMed Count',NULL,9750,NULL,NULL,NULL,2,NULL,NULL,NULL),(32813,'NCBI Gene Summary',NULL,9751,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32814,'NCBI Gene PubMed Count',NULL,9751,NULL,NULL,NULL,2,NULL,NULL,NULL),(32815,'NCBI Gene Summary',NULL,9752,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32816,'NCBI Gene PubMed Count',NULL,9752,NULL,NULL,NULL,4,NULL,NULL,NULL),(32817,'NCBI Gene Summary',NULL,9753,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32818,'NCBI Gene PubMed Count',NULL,9753,NULL,NULL,NULL,1,NULL,NULL,NULL),(32819,'NCBI Gene Summary',NULL,9754,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32820,'NCBI Gene PubMed Count',NULL,9754,NULL,NULL,NULL,1,NULL,NULL,NULL),(32821,'NCBI Gene Summary',NULL,9755,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32822,'NCBI Gene PubMed Count',NULL,9755,NULL,NULL,NULL,5,NULL,NULL,NULL),(32823,'NCBI Gene Summary',NULL,9756,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32824,'NCBI Gene PubMed Count',NULL,9756,NULL,NULL,NULL,2,NULL,NULL,NULL),(32825,'NCBI Gene Summary',NULL,9757,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32826,'NCBI Gene PubMed Count',NULL,9757,NULL,NULL,NULL,2,NULL,NULL,NULL),(32827,'NCBI Gene Summary',NULL,9758,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32828,'NCBI Gene PubMed Count',NULL,9758,NULL,NULL,NULL,1,NULL,NULL,NULL),(32829,'NCBI Gene Summary',NULL,9759,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32830,'NCBI Gene PubMed Count',NULL,9759,NULL,NULL,NULL,1,NULL,NULL,NULL),(32831,'NCBI Gene Summary',NULL,9760,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32832,'NCBI Gene PubMed Count',NULL,9760,NULL,NULL,NULL,1,NULL,NULL,NULL),(32833,'NCBI Gene Summary',NULL,9761,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32834,'NCBI Gene PubMed Count',NULL,9761,NULL,NULL,NULL,1,NULL,NULL,NULL),(32835,'NCBI Gene Summary',NULL,9762,NULL,'This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) Golgi compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(32836,'NCBI Gene PubMed Count',NULL,9762,NULL,NULL,NULL,4,NULL,NULL,NULL),(32837,'NCBI Gene Summary',NULL,9763,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32838,'NCBI Gene PubMed Count',NULL,9763,NULL,NULL,NULL,1,NULL,NULL,NULL),(32839,'NCBI Gene PubMed Count',NULL,9764,NULL,NULL,NULL,7,NULL,NULL,NULL),(32840,'NCBI Gene Summary',NULL,9765,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32841,'NCBI Gene PubMed Count',NULL,9765,NULL,NULL,NULL,1,NULL,NULL,NULL),(32842,'NCBI Gene Summary',NULL,9766,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32843,'NCBI Gene PubMed Count',NULL,9766,NULL,NULL,NULL,1,NULL,NULL,NULL),(32844,'NCBI Gene Summary',NULL,9767,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32845,'NCBI Gene PubMed Count',NULL,9767,NULL,NULL,NULL,2,NULL,NULL,NULL),(32846,'NCBI Gene Summary',NULL,9768,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32847,'NCBI Gene PubMed Count',NULL,9768,NULL,NULL,NULL,2,NULL,NULL,NULL),(32848,'NCBI Gene PubMed Count',NULL,9769,NULL,NULL,NULL,3,NULL,NULL,NULL),(32849,'NCBI Gene PubMed Count',NULL,9770,NULL,NULL,NULL,4,NULL,NULL,NULL),(32850,'NCBI Gene Summary',NULL,9771,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32851,'NCBI Gene PubMed Count',NULL,9771,NULL,NULL,NULL,2,NULL,NULL,NULL),(32852,'NCBI Gene PubMed Count',NULL,9772,NULL,NULL,NULL,2,NULL,NULL,NULL),(32853,'NCBI Gene Summary',NULL,9773,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32854,'NCBI Gene PubMed Count',NULL,9773,NULL,NULL,NULL,1,NULL,NULL,NULL),(32855,'NCBI Gene PubMed Count',NULL,9774,NULL,NULL,NULL,1,NULL,NULL,NULL),(32856,'NCBI Gene PubMed Count',NULL,9775,NULL,NULL,NULL,2,NULL,NULL,NULL),(32857,'NCBI Gene PubMed Count',NULL,9776,NULL,NULL,NULL,2,NULL,NULL,NULL),(32858,'NCBI Gene PubMed Count',NULL,9777,NULL,NULL,NULL,3,NULL,NULL,NULL),(32859,'NCBI Gene PubMed Count',NULL,9778,NULL,NULL,NULL,3,NULL,NULL,NULL),(32860,'NCBI Gene PubMed Count',NULL,9779,NULL,NULL,NULL,4,NULL,NULL,NULL),(32861,'NCBI Gene PubMed Count',NULL,9780,NULL,NULL,NULL,1,NULL,NULL,NULL),(32862,'NCBI Gene PubMed Count',NULL,9781,NULL,NULL,NULL,7,NULL,NULL,NULL),(32863,'NCBI Gene Summary',NULL,9782,NULL,'The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(32864,'NCBI Gene PubMed Count',NULL,9782,NULL,NULL,NULL,54,NULL,NULL,NULL),(32865,'NCBI Gene Summary',NULL,9783,NULL,'The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32866,'NCBI Gene PubMed Count',NULL,9783,NULL,NULL,NULL,9,NULL,NULL,NULL),(32867,'NCBI Gene PubMed Count',NULL,9784,NULL,NULL,NULL,7,NULL,NULL,NULL),(32868,'NCBI Gene PubMed Count',NULL,9785,NULL,NULL,NULL,11,NULL,NULL,NULL),(32869,'NCBI Gene Summary',NULL,9786,NULL,'The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32870,'NCBI Gene PubMed Count',NULL,9786,NULL,NULL,NULL,67,NULL,NULL,NULL),(32871,'NCBI Gene Summary',NULL,9787,NULL,'This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32872,'NCBI Gene PubMed Count',NULL,9787,NULL,NULL,NULL,323,NULL,NULL,NULL),(32873,'NCBI Gene PubMed Count',NULL,9788,NULL,NULL,NULL,4,NULL,NULL,NULL),(32874,'NCBI Gene PubMed Count',NULL,9789,NULL,NULL,NULL,14,NULL,NULL,NULL),(32875,'NCBI Gene Summary',NULL,9790,NULL,'PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(32876,'NCBI Gene PubMed Count',NULL,9790,NULL,NULL,NULL,48,NULL,NULL,NULL),(32877,'NCBI Gene PubMed Count',NULL,9791,NULL,NULL,NULL,10,NULL,NULL,NULL),(32878,'NCBI Gene Summary',NULL,9792,NULL,'This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32879,'NCBI Gene PubMed Count',NULL,9792,NULL,NULL,NULL,7,NULL,NULL,NULL),(32880,'NCBI Gene Summary',NULL,9793,NULL,'This gene encodes a member of the relaxin family of insulin-like hormones that is expressed predominantly in the brain and plays a role in physiological processes such as stress, memory and appetite regulation. The encoded protein is a precursor that is proteolytically processed to generate a heterodimeric mature form consisting A and B chains interlinked by disulfide bonds. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(32881,'NCBI Gene PubMed Count',NULL,9793,NULL,NULL,NULL,34,NULL,NULL,NULL),(32882,'NCBI Gene PubMed Count',NULL,9794,NULL,NULL,NULL,3,NULL,NULL,NULL),(32883,'NCBI Gene Summary',NULL,9795,NULL,'Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32884,'NCBI Gene PubMed Count',NULL,9795,NULL,NULL,NULL,55,NULL,NULL,NULL),(32885,'NCBI Gene Summary',NULL,9796,NULL,'This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(32886,'NCBI Gene PubMed Count',NULL,9796,NULL,NULL,NULL,4,NULL,NULL,NULL),(32887,'NCBI Gene PubMed Count',NULL,9797,NULL,NULL,NULL,19,NULL,NULL,NULL),(32888,'NCBI Gene PubMed Count',NULL,9798,NULL,NULL,NULL,16,NULL,NULL,NULL),(32889,'NCBI Gene Summary',NULL,9799,NULL,'The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32890,'NCBI Gene PubMed Count',NULL,9799,NULL,NULL,NULL,29,NULL,NULL,NULL),(32891,'NCBI Gene Summary',NULL,9800,NULL,'This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32892,'NCBI Gene PubMed Count',NULL,9800,NULL,NULL,NULL,33,NULL,NULL,NULL),(32893,'NCBI Gene PubMed Count',NULL,9801,NULL,NULL,NULL,18,NULL,NULL,NULL),(32894,'NCBI Gene Summary',NULL,9802,NULL,'PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(32895,'NCBI Gene PubMed Count',NULL,9802,NULL,NULL,NULL,15,NULL,NULL,NULL),(32896,'NCBI Gene Summary',NULL,9803,NULL,'This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. Three alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(32897,'NCBI Gene PubMed Count',NULL,9803,NULL,NULL,NULL,93,NULL,NULL,NULL),(32898,'NCBI Gene Summary',NULL,9804,NULL,'This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5\' UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32899,'NCBI Gene PubMed Count',NULL,9804,NULL,NULL,NULL,37,NULL,NULL,NULL),(32900,'NCBI Gene PubMed Count',NULL,9805,NULL,NULL,NULL,16,NULL,NULL,NULL),(32901,'NCBI Gene Summary',NULL,9806,NULL,'The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(32902,'NCBI Gene PubMed Count',NULL,9806,NULL,NULL,NULL,134,NULL,NULL,NULL),(32903,'NCBI Gene Summary',NULL,9807,NULL,'This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(32904,'NCBI Gene PubMed Count',NULL,9807,NULL,NULL,NULL,137,NULL,NULL,NULL),(32905,'NCBI Gene PubMed Count',NULL,9808,NULL,NULL,NULL,5,NULL,NULL,NULL),(32906,'NCBI Gene Summary',NULL,9810,NULL,'This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(32907,'NCBI Gene PubMed Count',NULL,9810,NULL,NULL,NULL,30,NULL,NULL,NULL),(32908,'NCBI Gene PubMed Count',NULL,9811,NULL,NULL,NULL,4,NULL,NULL,NULL),(32909,'NCBI Gene Summary',NULL,9812,NULL,'The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(32910,'NCBI Gene PubMed Count',NULL,9812,NULL,NULL,NULL,29,NULL,NULL,NULL),(32911,'NCBI Gene Summary',NULL,9813,NULL,'This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(32912,'NCBI Gene PubMed Count',NULL,9813,NULL,NULL,NULL,14,NULL,NULL,NULL),(32913,'NCBI Gene Summary',NULL,9815,NULL,'This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(32914,'NCBI Gene PubMed Count',NULL,9815,NULL,NULL,NULL,82,NULL,NULL,NULL),(32915,'NCBI Gene Summary',NULL,9816,NULL,'The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(32916,'NCBI Gene PubMed Count',NULL,9816,NULL,NULL,NULL,25,NULL,NULL,NULL),(32917,'NCBI Gene PubMed Count',NULL,9817,NULL,NULL,NULL,3,NULL,NULL,NULL),(32918,'NCBI Gene Summary',NULL,9818,NULL,'This gene encodes a protein phosphatase methylesterase localized to the nucleus. The encoded protein acts on the protein phosphatase-2A catalytic subunit and supports the ERK pathway through dephosphorylation of regulatory proteins. It plays a role in malignant glioma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(32919,'NCBI Gene PubMed Count',NULL,9818,NULL,NULL,NULL,23,NULL,NULL,NULL),(32920,'NCBI Gene Summary',NULL,9819,NULL,'Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(32921,'NCBI Gene PubMed Count',NULL,9819,NULL,NULL,NULL,19,NULL,NULL,NULL),(32922,'NCBI Gene PubMed Count',NULL,9820,NULL,NULL,NULL,3,NULL,NULL,NULL),(32923,'NCBI Gene PubMed Count',NULL,9821,NULL,NULL,NULL,28,NULL,NULL,NULL),(32924,'NCBI Gene Summary',NULL,9822,NULL,'This gene encodes a protein that is involved in cytokinesis. The protein is present at high levels during the S and G2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the G1 phase. It is located in the nucleus during interphase, becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing parallel microtubules and concentrating the factors responsible for contractile ring assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(32925,'NCBI Gene PubMed Count',NULL,9822,NULL,NULL,NULL,57,NULL,NULL,NULL),(32926,'NCBI Gene PubMed Count',NULL,9823,NULL,NULL,NULL,15,NULL,NULL,NULL),(32927,'NCBI Gene Summary',NULL,9824,NULL,'This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(32928,'NCBI Gene PubMed Count',NULL,9824,NULL,NULL,NULL,8,NULL,NULL,NULL),(32929,'NCBI Gene Summary',NULL,9825,NULL,'The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32930,'NCBI Gene PubMed Count',NULL,9825,NULL,NULL,NULL,15,NULL,NULL,NULL),(32931,'NCBI Gene PubMed Count',NULL,9826,NULL,NULL,NULL,3,NULL,NULL,NULL),(32932,'NCBI Gene Summary',NULL,9827,NULL,'The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32933,'NCBI Gene PubMed Count',NULL,9827,NULL,NULL,NULL,9,NULL,NULL,NULL),(32934,'NCBI Gene PubMed Count',NULL,9828,NULL,NULL,NULL,3,NULL,NULL,NULL),(32935,'NCBI Gene Summary',NULL,9829,NULL,'The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(32936,'NCBI Gene PubMed Count',NULL,9829,NULL,NULL,NULL,8,NULL,NULL,NULL),(32937,'NCBI Gene Summary',NULL,9830,NULL,'This gene is found on chromosome 20, approximately 20 kbp downstream of the gene encoding cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that is found predominantly in testis. Mutations in this gene may lead to neurological disorders. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32938,'NCBI Gene PubMed Count',NULL,9830,NULL,NULL,NULL,39,NULL,NULL,NULL),(32939,'NCBI Gene Summary',NULL,9831,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this gene is downregulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug. Studies in mice have shown that the expression of the ribosomal protein L10a gene is downregulated in neural precursor cells during development. This gene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downregulated 6), but it has been renamed RPL10A (ribosomal protein 10a). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32940,'NCBI Gene PubMed Count',NULL,9831,NULL,NULL,NULL,27,NULL,NULL,NULL),(32941,'NCBI Gene PubMed Count',NULL,9832,NULL,NULL,NULL,17,NULL,NULL,NULL),(32942,'NCBI Gene Summary',NULL,9833,NULL,'This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(32943,'NCBI Gene PubMed Count',NULL,9833,NULL,NULL,NULL,28,NULL,NULL,NULL),(32944,'NCBI Gene PubMed Count',NULL,9834,NULL,NULL,NULL,22,NULL,NULL,NULL),(32945,'NCBI Gene Summary',NULL,9835,NULL,'The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(32946,'NCBI Gene PubMed Count',NULL,9835,NULL,NULL,NULL,212,NULL,NULL,NULL),(32947,'NCBI Gene Summary',NULL,9836,NULL,'This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(32948,'NCBI Gene PubMed Count',NULL,9836,NULL,NULL,NULL,115,NULL,NULL,NULL),(32949,'NCBI Gene Summary',NULL,9837,NULL,'This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32950,'NCBI Gene PubMed Count',NULL,9837,NULL,NULL,NULL,12,NULL,NULL,NULL),(32951,'NCBI Gene Summary',NULL,9838,NULL,'This gene is a member of the immunoglobulin superfamily. The encoded poly-Ig receptor binds polymeric immunoglobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobulin A nephropathy and several SNPs in this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(32952,'NCBI Gene PubMed Count',NULL,9838,NULL,NULL,NULL,89,NULL,NULL,NULL),(32953,'NCBI Gene PubMed Count',NULL,9839,NULL,NULL,NULL,5,NULL,NULL,NULL),(32954,'NCBI Gene Summary',NULL,9840,NULL,'This gene encodes a member of the G-protein-coupled receptor family. The encoded protein binds to prokineticins (1 and 2), leading to the activation of MAPK and STAT signaling pathways. Prokineticins are protein ligands involved in angiogenesis and inflammation. The encoded protein is expressed in peripheral tissues such as those comprising the circulatory system, lungs, reproductive system, endocrine system and the gastrointestinal system. The protein may be involved in signaling in human fetal ovary during initiation of primordial follicle formation. Sequence variants in this gene may be associated with recurrent miscarriage. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(32955,'NCBI Gene PubMed Count',NULL,9840,NULL,NULL,NULL,28,NULL,NULL,NULL),(32956,'NCBI Gene Summary',NULL,9841,NULL,'The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32957,'NCBI Gene PubMed Count',NULL,9841,NULL,NULL,NULL,27,NULL,NULL,NULL),(32958,'NCBI Gene PubMed Count',NULL,9842,NULL,NULL,NULL,20,NULL,NULL,NULL),(32959,'NCBI Gene Summary',NULL,9843,NULL,'Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(32960,'NCBI Gene PubMed Count',NULL,9843,NULL,NULL,NULL,374,NULL,NULL,NULL),(32961,'NCBI Gene PubMed Count',NULL,9844,NULL,NULL,NULL,38,NULL,NULL,NULL),(32962,'NCBI Gene PubMed Count',NULL,9845,NULL,NULL,NULL,10,NULL,NULL,NULL),(32963,'NCBI Gene Summary',NULL,9846,NULL,'This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(32964,'NCBI Gene PubMed Count',NULL,9846,NULL,NULL,NULL,59,NULL,NULL,NULL),(32965,'NCBI Gene PubMed Count',NULL,9847,NULL,NULL,NULL,3,NULL,NULL,NULL),(32966,'NCBI Gene Summary',NULL,9848,NULL,'The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(32967,'NCBI Gene PubMed Count',NULL,9848,NULL,NULL,NULL,43,NULL,NULL,NULL),(32968,'NCBI Gene Summary',NULL,9849,NULL,'This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(32969,'NCBI Gene PubMed Count',NULL,9849,NULL,NULL,NULL,80,NULL,NULL,NULL),(32970,'NCBI Gene Summary',NULL,9850,NULL,'Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(32971,'NCBI Gene PubMed Count',NULL,9850,NULL,NULL,NULL,13,NULL,NULL,NULL),(32972,'NCBI Gene Summary',NULL,9851,NULL,'This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32973,'NCBI Gene PubMed Count',NULL,9851,NULL,NULL,NULL,24,NULL,NULL,NULL),(32974,'NCBI Gene Summary',NULL,9852,NULL,'This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(32975,'NCBI Gene PubMed Count',NULL,9852,NULL,NULL,NULL,25,NULL,NULL,NULL),(32976,'NCBI Gene Summary',NULL,9853,NULL,'The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in synthesis of glycerolipids and in phospholipase D-mediated signal transduction. This enzyme is an integral membrane glycoprotein that plays a role in the hydrolysis and uptake of lipids from extracellular space. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(32977,'NCBI Gene PubMed Count',NULL,9853,NULL,NULL,NULL,31,NULL,NULL,NULL),(32978,'NCBI Gene Summary',NULL,9854,NULL,'The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is similar to phosphatidic acid phosphatase type 2A (PPAP2A) and type 2B (PPAP2B). All three proteins contain 6 transmembrane regions, and a consensus N-glycosylation site. This protein has been shown to possess membrane associated PAP activity. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32979,'NCBI Gene PubMed Count',NULL,9854,NULL,NULL,NULL,13,NULL,NULL,NULL),(32980,'NCBI Gene PubMed Count',NULL,9855,NULL,NULL,NULL,10,NULL,NULL,NULL),(32981,'NCBI Gene PubMed Count',NULL,9856,NULL,NULL,NULL,7,NULL,NULL,NULL),(32982,'NCBI Gene Summary',NULL,9857,NULL,'Pyridoxal 5-prime-phosphate (PLP) is the active form of vitamin B6 that acts as a coenzyme in maintaining biochemical homeostasis. The preferred degradation route from PLP to 4-pyridoxic acid involves the dephosphorylation of PLP by PDXP (Jang et al., 2003 [PubMed 14522954]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(32983,'NCBI Gene PubMed Count',NULL,9857,NULL,NULL,NULL,18,NULL,NULL,NULL),(32984,'NCBI Gene PubMed Count',NULL,9858,NULL,NULL,NULL,80,NULL,NULL,NULL),(32985,'NCBI Gene Summary',NULL,9859,NULL,'Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32986,'NCBI Gene PubMed Count',NULL,9859,NULL,NULL,NULL,72,NULL,NULL,NULL),(32987,'NCBI Gene PubMed Count',NULL,9860,NULL,NULL,NULL,34,NULL,NULL,NULL),(32988,'NCBI Gene PubMed Count',NULL,9861,NULL,NULL,NULL,12,NULL,NULL,NULL),(32989,'NCBI Gene PubMed Count',NULL,9862,NULL,NULL,NULL,1,NULL,NULL,NULL),(32990,'NCBI Gene Summary',NULL,9863,NULL,'The protein encoded by this gene is a member of the plexin family. It functions as a receptor for semaphorin 5A, and plays a role in axon guidance, invasive growth and cell migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(32991,'NCBI Gene PubMed Count',NULL,9863,NULL,NULL,NULL,14,NULL,NULL,NULL),(32992,'NCBI Gene PubMed Count',NULL,9864,NULL,NULL,NULL,3,NULL,NULL,NULL),(32993,'NCBI Gene Summary',NULL,9866,NULL,'The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(32994,'NCBI Gene PubMed Count',NULL,9866,NULL,NULL,NULL,45,NULL,NULL,NULL),(32995,'NCBI Gene Summary',NULL,9867,NULL,'This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(32996,'NCBI Gene PubMed Count',NULL,9867,NULL,NULL,NULL,263,NULL,NULL,NULL),(32997,'NCBI Gene Summary',NULL,9868,NULL,'This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(32998,'NCBI Gene PubMed Count',NULL,9868,NULL,NULL,NULL,9,NULL,NULL,NULL),(32999,'NCBI Gene PubMed Count',NULL,9869,NULL,NULL,NULL,4,NULL,NULL,NULL),(33000,'NCBI Gene PubMed Count',NULL,9870,NULL,NULL,NULL,17,NULL,NULL,NULL),(33001,'NCBI Gene PubMed Count',NULL,9871,NULL,NULL,NULL,7,NULL,NULL,NULL),(33002,'NCBI Gene PubMed Count',NULL,9872,NULL,NULL,NULL,13,NULL,NULL,NULL),(33003,'NCBI Gene Summary',NULL,9873,NULL,'This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(33004,'NCBI Gene PubMed Count',NULL,9873,NULL,NULL,NULL,16,NULL,NULL,NULL),(33005,'NCBI Gene Summary',NULL,9874,NULL,'Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila \'armadillo\' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(33006,'NCBI Gene PubMed Count',NULL,9874,NULL,NULL,NULL,41,NULL,NULL,NULL),(33007,'NCBI Gene PubMed Count',NULL,9875,NULL,NULL,NULL,38,NULL,NULL,NULL),(33008,'NCBI Gene Summary',NULL,9876,NULL,'This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(33009,'NCBI Gene PubMed Count',NULL,9876,NULL,NULL,NULL,72,NULL,NULL,NULL),(33010,'NCBI Gene Summary',NULL,9877,NULL,'The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(33011,'NCBI Gene PubMed Count',NULL,9877,NULL,NULL,NULL,13,NULL,NULL,NULL),(33012,'NCBI Gene Summary',NULL,9878,NULL,'Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33013,'NCBI Gene PubMed Count',NULL,9878,NULL,NULL,NULL,71,NULL,NULL,NULL),(33014,'NCBI Gene Summary',NULL,9879,NULL,'The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(33015,'NCBI Gene PubMed Count',NULL,9879,NULL,NULL,NULL,57,NULL,NULL,NULL),(33016,'NCBI Gene Summary',NULL,9880,NULL,'PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(33017,'NCBI Gene PubMed Count',NULL,9880,NULL,NULL,NULL,14,NULL,NULL,NULL),(33018,'NCBI Gene Summary',NULL,9881,NULL,' Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33019,'NCBI Gene PubMed Count',NULL,9881,NULL,NULL,NULL,27,NULL,NULL,NULL),(33020,'NCBI Gene PubMed Count',NULL,9882,NULL,NULL,NULL,26,NULL,NULL,NULL),(33021,'NCBI Gene Summary',NULL,9883,NULL,'This gene was initially identified as a transcriptional repressor that represses neuronal genes in non-neuronal tissues. However, depending on the cellular context, this gene can act as either an oncogene or a tumor suppressor. The encoded protein is a member of the Kruppel-type zinc finger transcription factor family. It represses transcription by binding a DNA sequence element called the neuron-restrictive silencer element. The protein is also found in undifferentiated neuronal progenitor cells and it is thought that this repressor may act as a master negative regulator of neurogenesis. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(33022,'NCBI Gene PubMed Count',NULL,9883,NULL,NULL,NULL,170,NULL,NULL,NULL),(33023,'NCBI Gene Summary',NULL,9884,NULL,'The protein encoded by this gene associates with membrane-bound phosphatidylinositols generated by phosphatidylinositol 3-kinase. The encoded protein then interacts with the actin cytoskeleton to induce cell spreading. In conjunction with complement component 1, q subcomponent, B chain (C1QB), this gene shows an increase in expression in melanoma cells and may serve as an accurate biomarker for the disease. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(33024,'NCBI Gene PubMed Count',NULL,9884,NULL,NULL,NULL,12,NULL,NULL,NULL),(33025,'NCBI Gene Summary',NULL,9885,NULL,'Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33026,'NCBI Gene PubMed Count',NULL,9885,NULL,NULL,NULL,29,NULL,NULL,NULL),(33027,'NCBI Gene Summary',NULL,9886,NULL,'The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33028,'NCBI Gene PubMed Count',NULL,9886,NULL,NULL,NULL,27,NULL,NULL,NULL),(33029,'NCBI Gene Summary',NULL,9887,NULL,'The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(33030,'NCBI Gene PubMed Count',NULL,9887,NULL,NULL,NULL,22,NULL,NULL,NULL),(33031,'NCBI Gene Summary',NULL,9888,NULL,'This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(33032,'NCBI Gene PubMed Count',NULL,9888,NULL,NULL,NULL,9,NULL,NULL,NULL),(33033,'NCBI Gene Summary',NULL,9889,NULL,'This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]',NULL,NULL,NULL,NULL,NULL),(33034,'NCBI Gene PubMed Count',NULL,9889,NULL,NULL,NULL,24,NULL,NULL,NULL),(33035,'NCBI Gene Summary',NULL,9890,NULL,'Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5\' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(33036,'NCBI Gene PubMed Count',NULL,9890,NULL,NULL,NULL,17,NULL,NULL,NULL),(33037,'NCBI Gene Summary',NULL,9891,NULL,'This gene encodes a member of the plexin class of proteins. The encoded protein is a class 3 semaphorin receptor, and may be involved in cytoskeletal remodeling and as well as apoptosis. Studies of a similar gene in zebrafish suggest that it is important for axon pathfinding in the developing nervous system. This gene may be associated with tumor progression. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(33038,'NCBI Gene PubMed Count',NULL,9891,NULL,NULL,NULL,17,NULL,NULL,NULL),(33039,'NCBI Gene PubMed Count',NULL,9892,NULL,NULL,NULL,9,NULL,NULL,NULL),(33040,'NCBI Gene Summary',NULL,9893,NULL,'The protein encoded by this gene belongs to the paraneoplastic antigen MA (PNMA) family, which shares homology with retroviral Gag proteins. The PNMA antigens are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3\' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(33041,'NCBI Gene PubMed Count',NULL,9893,NULL,NULL,NULL,6,NULL,NULL,NULL),(33042,'NCBI Gene Summary',NULL,9894,NULL,'Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(33043,'NCBI Gene PubMed Count',NULL,9894,NULL,NULL,NULL,19,NULL,NULL,NULL),(33044,'NCBI Gene Summary',NULL,9895,NULL,'The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33045,'NCBI Gene PubMed Count',NULL,9895,NULL,NULL,NULL,13,NULL,NULL,NULL),(33046,'NCBI Gene PubMed Count',NULL,9896,NULL,NULL,NULL,13,NULL,NULL,NULL),(33047,'NCBI Gene Summary',NULL,9897,NULL,'This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33048,'NCBI Gene PubMed Count',NULL,9897,NULL,NULL,NULL,39,NULL,NULL,NULL),(33049,'NCBI Gene Summary',NULL,9898,NULL,'The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(33050,'NCBI Gene PubMed Count',NULL,9898,NULL,NULL,NULL,10,NULL,NULL,NULL),(33051,'NCBI Gene Summary',NULL,9899,NULL,'The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33052,'NCBI Gene PubMed Count',NULL,9899,NULL,NULL,NULL,26,NULL,NULL,NULL),(33053,'NCBI Gene PubMed Count',NULL,9900,NULL,NULL,NULL,0,NULL,NULL,NULL),(33054,'NCBI Gene PubMed Count',NULL,9901,NULL,NULL,NULL,1,NULL,NULL,NULL),(33055,'NCBI Gene PubMed Count',NULL,9902,NULL,NULL,NULL,1,NULL,NULL,NULL),(33056,'NCBI Gene PubMed Count',NULL,9903,NULL,NULL,NULL,1,NULL,NULL,NULL),(33057,'NCBI Gene PubMed Count',NULL,9904,NULL,NULL,NULL,1,NULL,NULL,NULL),(33058,'NCBI Gene Summary',NULL,9905,NULL,'A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(33059,'NCBI Gene PubMed Count',NULL,9905,NULL,NULL,NULL,53,NULL,NULL,NULL),(33060,'NCBI Gene PubMed Count',NULL,9906,NULL,NULL,NULL,17,NULL,NULL,NULL),(33061,'NCBI Gene PubMed Count',NULL,9907,NULL,NULL,NULL,13,NULL,NULL,NULL),(33062,'NCBI Gene Summary',NULL,9908,NULL,'This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33063,'NCBI Gene PubMed Count',NULL,9908,NULL,NULL,NULL,142,NULL,NULL,NULL),(33064,'NCBI Gene PubMed Count',NULL,9909,NULL,NULL,NULL,4,NULL,NULL,NULL),(33065,'NCBI Gene Summary',NULL,9910,NULL,'This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(33066,'NCBI Gene PubMed Count',NULL,9910,NULL,NULL,NULL,19,NULL,NULL,NULL),(33067,'NCBI Gene PubMed Count',NULL,9911,NULL,NULL,NULL,3,NULL,NULL,NULL),(33068,'NCBI Gene Summary',NULL,9912,NULL,'The product of this gene, which is well-conserved, is encoded by the same bicistronic transcript that encodes phosphatidylinositol glycan anchor biosynthesis, class Y, but the two proteins are unrelated. This gene represents the protein encoded by the upstream open reading frame, while the protein encoded by the downstream open reading frame is represented by GeneID:84992. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(33069,'NCBI Gene PubMed Count',NULL,9912,NULL,NULL,NULL,6,NULL,NULL,NULL),(33070,'NCBI Gene Summary',NULL,9913,NULL,'The protein encoded by this gene is a zinc finger protein with histone methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein contains multiple domains, including a Kruppel-associated box (KRAB) domain, an SSX repression domain (SSXRD), a PRD1-BF1 and RIZ homologous region, a subclass of SET (PR/SET) domain, and a tandem array of C2H2 zinc fingers. The zinc finger array recognizes a short sequence motif, leading to local H3K4me3, and meiotic recombination hotspot activity. The observed allelic variation alters the DNA-binding sequence specificity of the protein, resulting in distinct meiotic recombination hotspots amongst individuals and populations. Multiple alternate alleles of this gene have been described. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(33071,'NCBI Gene PubMed Count',NULL,9913,NULL,NULL,NULL,35,NULL,NULL,NULL),(33072,'NCBI Gene PubMed Count',NULL,9914,NULL,NULL,NULL,13,NULL,NULL,NULL),(33073,'NCBI Gene PubMed Count',NULL,9915,NULL,NULL,NULL,11,NULL,NULL,NULL),(33074,'NCBI Gene Summary',NULL,9916,NULL,'This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(33075,'NCBI Gene PubMed Count',NULL,9916,NULL,NULL,NULL,29,NULL,NULL,NULL),(33076,'NCBI Gene PubMed Count',NULL,9917,NULL,NULL,NULL,7,NULL,NULL,NULL),(33077,'NCBI Gene PubMed Count',NULL,9918,NULL,NULL,NULL,2,NULL,NULL,NULL),(33078,'NCBI Gene Summary',NULL,9919,NULL,'This gene encodes a protein sharing sequence similarity with ribosomal protein L10. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. This gene is intronless. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33079,'NCBI Gene PubMed Count',NULL,9919,NULL,NULL,NULL,14,NULL,NULL,NULL),(33080,'NCBI Gene Summary',NULL,9920,NULL,'This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(33081,'NCBI Gene PubMed Count',NULL,9920,NULL,NULL,NULL,152,NULL,NULL,NULL),(33082,'NCBI Gene Summary',NULL,9921,NULL,'This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(33083,'NCBI Gene PubMed Count',NULL,9921,NULL,NULL,NULL,14,NULL,NULL,NULL),(33084,'NCBI Gene Summary',NULL,9922,NULL,'This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33085,'NCBI Gene PubMed Count',NULL,9922,NULL,NULL,NULL,61,NULL,NULL,NULL),(33086,'NCBI Gene PubMed Count',NULL,9923,NULL,NULL,NULL,19,NULL,NULL,NULL),(33087,'NCBI Gene PubMed Count',NULL,9924,NULL,NULL,NULL,7,NULL,NULL,NULL),(33088,'NCBI Gene Summary',NULL,9925,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33089,'NCBI Gene PubMed Count',NULL,9925,NULL,NULL,NULL,9,NULL,NULL,NULL),(33090,'NCBI Gene Summary',NULL,9926,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33091,'NCBI Gene PubMed Count',NULL,9926,NULL,NULL,NULL,13,NULL,NULL,NULL),(33092,'NCBI Gene Summary',NULL,9927,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33093,'NCBI Gene PubMed Count',NULL,9927,NULL,NULL,NULL,9,NULL,NULL,NULL),(33094,'NCBI Gene Summary',NULL,9928,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33095,'NCBI Gene PubMed Count',NULL,9928,NULL,NULL,NULL,12,NULL,NULL,NULL),(33096,'NCBI Gene Summary',NULL,9929,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33097,'NCBI Gene PubMed Count',NULL,9929,NULL,NULL,NULL,14,NULL,NULL,NULL),(33098,'NCBI Gene Summary',NULL,9930,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33099,'NCBI Gene PubMed Count',NULL,9930,NULL,NULL,NULL,13,NULL,NULL,NULL),(33100,'NCBI Gene Summary',NULL,9931,NULL,'PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(33101,'NCBI Gene PubMed Count',NULL,9931,NULL,NULL,NULL,21,NULL,NULL,NULL),(33102,'NCBI Gene Summary',NULL,9932,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33103,'NCBI Gene PubMed Count',NULL,9932,NULL,NULL,NULL,7,NULL,NULL,NULL),(33104,'NCBI Gene Summary',NULL,9933,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33105,'NCBI Gene PubMed Count',NULL,9933,NULL,NULL,NULL,8,NULL,NULL,NULL),(33106,'NCBI Gene Summary',NULL,9934,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33107,'NCBI Gene PubMed Count',NULL,9934,NULL,NULL,NULL,7,NULL,NULL,NULL),(33108,'NCBI Gene Summary',NULL,9935,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33109,'NCBI Gene PubMed Count',NULL,9935,NULL,NULL,NULL,12,NULL,NULL,NULL),(33110,'NCBI Gene Summary',NULL,9936,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33111,'NCBI Gene PubMed Count',NULL,9936,NULL,NULL,NULL,7,NULL,NULL,NULL),(33112,'NCBI Gene Summary',NULL,9937,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33113,'NCBI Gene PubMed Count',NULL,9937,NULL,NULL,NULL,10,NULL,NULL,NULL),(33114,'NCBI Gene Summary',NULL,9938,NULL,'The 3\',5\'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3\',5\'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5\'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33115,'NCBI Gene PubMed Count',NULL,9938,NULL,NULL,NULL,46,NULL,NULL,NULL),(33116,'NCBI Gene Summary',NULL,9939,NULL,'This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(33117,'NCBI Gene PubMed Count',NULL,9939,NULL,NULL,NULL,134,NULL,NULL,NULL),(33118,'NCBI Gene Summary',NULL,9940,NULL,'This gene encodes a member of the phosphatidylethanolamine-binding family of proteins and has been shown to modulate multiple signaling pathways, including the MAP kinase (MAPK), NF-kappa B, and glycogen synthase kinase-3 (GSK-3) signaling pathways. The encoded protein can be further processed to form a smaller cleavage product, hippocampal cholinergic neurostimulating peptide (HCNP), which may be involved in neural development. This gene has been implicated in numerous human cancers and may act as a metastasis suppressor gene. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(33119,'NCBI Gene PubMed Count',NULL,9940,NULL,NULL,NULL,210,NULL,NULL,NULL),(33120,'NCBI Gene Summary',NULL,9941,NULL,'The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(33121,'NCBI Gene PubMed Count',NULL,9941,NULL,NULL,NULL,32,NULL,NULL,NULL),(33122,'NCBI Gene Summary',NULL,9942,NULL,'Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer\'s disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(33123,'NCBI Gene PubMed Count',NULL,9942,NULL,NULL,NULL,72,NULL,NULL,NULL),(33124,'NCBI Gene Summary',NULL,9943,NULL,'This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33125,'NCBI Gene PubMed Count',NULL,9943,NULL,NULL,NULL,39,NULL,NULL,NULL),(33126,'NCBI Gene Summary',NULL,9944,NULL,'This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(33127,'NCBI Gene PubMed Count',NULL,9944,NULL,NULL,NULL,136,NULL,NULL,NULL),(33128,'NCBI Gene Summary',NULL,9945,NULL,'This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(33129,'NCBI Gene PubMed Count',NULL,9945,NULL,NULL,NULL,37,NULL,NULL,NULL),(33130,'NCBI Gene Summary',NULL,9946,NULL,'The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(33131,'NCBI Gene PubMed Count',NULL,9946,NULL,NULL,NULL,62,NULL,NULL,NULL),(33132,'NCBI Gene Summary',NULL,9947,NULL,'This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(33133,'NCBI Gene PubMed Count',NULL,9947,NULL,NULL,NULL,101,NULL,NULL,NULL),(33134,'NCBI Gene Summary',NULL,9948,NULL,'This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(33135,'NCBI Gene PubMed Count',NULL,9948,NULL,NULL,NULL,31,NULL,NULL,NULL),(33136,'NCBI Gene PubMed Count',NULL,9949,NULL,NULL,NULL,5,NULL,NULL,NULL),(33137,'NCBI Gene PubMed Count',NULL,9950,NULL,NULL,NULL,6,NULL,NULL,NULL),(33138,'NCBI Gene PubMed Count',NULL,9951,NULL,NULL,NULL,2,NULL,NULL,NULL),(33139,'NCBI Gene Summary',NULL,9952,NULL,'This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats, polymorphic cleavage sites and polymorphic stop codons have been identified. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(33140,'NCBI Gene PubMed Count',NULL,9952,NULL,NULL,NULL,19,NULL,NULL,NULL),(33141,'NCBI Gene Summary',NULL,9953,NULL,'This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the \"Long\" allele. The protein isoforms encoded by this gene are recognized as the \"first line of oral defense\" against the detrimental effects of polyphenols in the diet and pathogen infections. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(33142,'NCBI Gene PubMed Count',NULL,9953,NULL,NULL,NULL,13,NULL,NULL,NULL),(33143,'NCBI Gene Summary',NULL,9954,NULL,'This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature peptides before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the \"Small\" allele. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(33144,'NCBI Gene PubMed Count',NULL,9954,NULL,NULL,NULL,20,NULL,NULL,NULL),(33145,'NCBI Gene Summary',NULL,9955,NULL,'This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(33146,'NCBI Gene PubMed Count',NULL,9955,NULL,NULL,NULL,6,NULL,NULL,NULL),(33147,'NCBI Gene PubMed Count',NULL,9956,NULL,NULL,NULL,3,NULL,NULL,NULL),(33148,'NCBI Gene Summary',NULL,9957,NULL,'The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33149,'NCBI Gene PubMed Count',NULL,9957,NULL,NULL,NULL,23,NULL,NULL,NULL),(33150,'NCBI Gene Summary',NULL,9958,NULL,'The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this gene increase the risk of the development of obesity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(33151,'NCBI Gene PubMed Count',NULL,9958,NULL,NULL,NULL,81,NULL,NULL,NULL),(33152,'NCBI Gene Summary',NULL,9959,NULL,'This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(33153,'NCBI Gene PubMed Count',NULL,9959,NULL,NULL,NULL,16,NULL,NULL,NULL),(33154,'NCBI Gene Summary',NULL,9960,NULL,'This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(33155,'NCBI Gene PubMed Count',NULL,9960,NULL,NULL,NULL,152,NULL,NULL,NULL),(33156,'NCBI Gene Summary',NULL,9961,NULL,'The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(33157,'NCBI Gene PubMed Count',NULL,9961,NULL,NULL,NULL,29,NULL,NULL,NULL),(33158,'NCBI Gene Summary',NULL,9962,NULL,'Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(33159,'NCBI Gene PubMed Count',NULL,9962,NULL,NULL,NULL,15,NULL,NULL,NULL),(33160,'NCBI Gene Summary',NULL,9963,NULL,'The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(33161,'NCBI Gene PubMed Count',NULL,9963,NULL,NULL,NULL,31,NULL,NULL,NULL),(33162,'NCBI Gene Summary',NULL,9964,NULL,'This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33163,'NCBI Gene PubMed Count',NULL,9964,NULL,NULL,NULL,195,NULL,NULL,NULL),(33164,'NCBI Gene Summary',NULL,9965,NULL,'This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33165,'NCBI Gene PubMed Count',NULL,9965,NULL,NULL,NULL,78,NULL,NULL,NULL),(33166,'NCBI Gene Summary',NULL,9966,NULL,'This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(33167,'NCBI Gene PubMed Count',NULL,9966,NULL,NULL,NULL,28,NULL,NULL,NULL),(33168,'NCBI Gene Summary',NULL,9968,NULL,'The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(33169,'NCBI Gene PubMed Count',NULL,9968,NULL,NULL,NULL,89,NULL,NULL,NULL),(33170,'NCBI Gene Summary',NULL,9969,NULL,'The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33171,'NCBI Gene PubMed Count',NULL,9969,NULL,NULL,NULL,20,NULL,NULL,NULL),(33172,'NCBI Gene Summary',NULL,9970,NULL,'The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33173,'NCBI Gene PubMed Count',NULL,9970,NULL,NULL,NULL,62,NULL,NULL,NULL),(33174,'NCBI Gene Summary',NULL,9971,NULL,'Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that regulates a variety of cellular functions. PP1 consists of a catalytic subunit (see PPP1CA; MIM 176875) and regulatory subunits that determine the subcellular localization of PP1 or regulate its function. PPP1R1C belongs to a group of PP1 inhibitory subunits that are themselves regulated by phosphorylation (Wang et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(33175,'NCBI Gene PubMed Count',NULL,9971,NULL,NULL,NULL,10,NULL,NULL,NULL),(33176,'NCBI Gene Summary',NULL,9972,NULL,'The protein encoded by this gene can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus plays a role in the control of centrosome integrity. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(33177,'NCBI Gene PubMed Count',NULL,9972,NULL,NULL,NULL,3,NULL,NULL,NULL),(33178,'NCBI Gene Summary',NULL,9973,NULL,'The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(33179,'NCBI Gene PubMed Count',NULL,9973,NULL,NULL,NULL,28,NULL,NULL,NULL),(33180,'NCBI Gene PubMed Count',NULL,9974,NULL,NULL,NULL,4,NULL,NULL,NULL),(33181,'NCBI Gene Summary',NULL,9975,NULL,'Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33182,'NCBI Gene PubMed Count',NULL,9975,NULL,NULL,NULL,10,NULL,NULL,NULL),(33183,'NCBI Gene PubMed Count',NULL,9976,NULL,NULL,NULL,1,NULL,NULL,NULL),(33184,'NCBI Gene Summary',NULL,9977,NULL,' The protein encoded by this gene is an antioxidant enzyme and belongs to the peroxiredoxin family. The protein is localized to the cytoplasm. Peroxidases of the peroxiredoxin family reduce hydrogen peroxide and alkyl hydroperoxides to water and alcohol with the use of reducing equivalents derived from thiol-containing donor molecules. This protein has been found to play a regulatory role in the activation of the transcription factor NF-kappaB. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33185,'NCBI Gene PubMed Count',NULL,9977,NULL,NULL,NULL,56,NULL,NULL,NULL),(33186,'NCBI Gene PubMed Count',NULL,9978,NULL,NULL,NULL,3,NULL,NULL,NULL),(33187,'NCBI Gene PubMed Count',NULL,9979,NULL,NULL,NULL,3,NULL,NULL,NULL),(33188,'NCBI Gene Summary',NULL,9980,NULL,'This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce several transcript variants, both protein coding and non-protein coding. Two of the isoforms (A and B) are identical except for an additional 165 amino acids found in the N-terminus of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(33189,'NCBI Gene PubMed Count',NULL,9980,NULL,NULL,NULL,676,NULL,NULL,NULL),(33190,'NCBI Gene Summary',NULL,9981,NULL,'This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(33191,'NCBI Gene PubMed Count',NULL,9981,NULL,NULL,NULL,14,NULL,NULL,NULL),(33192,'NCBI Gene Summary',NULL,9982,NULL,'This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(33193,'NCBI Gene PubMed Count',NULL,9982,NULL,NULL,NULL,29,NULL,NULL,NULL),(33194,'NCBI Gene Summary',NULL,9983,NULL,'This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(33195,'NCBI Gene PubMed Count',NULL,9983,NULL,NULL,NULL,28,NULL,NULL,NULL),(33196,'NCBI Gene PubMed Count',NULL,9984,NULL,NULL,NULL,4,NULL,NULL,NULL),(33197,'NCBI Gene Summary',NULL,9985,NULL,'The protein encoded by this gene is a large proteoglycan that is synthesized by chondrocytes located at the surface of articular cartilage and by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(33198,'NCBI Gene PubMed Count',NULL,9985,NULL,NULL,NULL,63,NULL,NULL,NULL),(33199,'NCBI Gene Summary',NULL,9986,NULL,'This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(33200,'NCBI Gene PubMed Count',NULL,9986,NULL,NULL,NULL,16,NULL,NULL,NULL),(33201,'NCBI Gene Summary',NULL,9987,NULL,'The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33202,'NCBI Gene PubMed Count',NULL,9987,NULL,NULL,NULL,58,NULL,NULL,NULL),(33203,'NCBI Gene PubMed Count',NULL,9988,NULL,NULL,NULL,7,NULL,NULL,NULL),(33204,'NCBI Gene Summary',NULL,9989,NULL,'2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(33205,'NCBI Gene PubMed Count',NULL,9989,NULL,NULL,NULL,23,NULL,NULL,NULL),(33206,'NCBI Gene Summary',NULL,9990,NULL,'This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(33207,'NCBI Gene PubMed Count',NULL,9990,NULL,NULL,NULL,23,NULL,NULL,NULL),(33208,'NCBI Gene Summary',NULL,9991,NULL,'This gene encodes a transmembrane protein that contains a Smad interacting motif (SIM). Expression of this gene is induced by androgens and transforming growth factor beta, and the encoded protein suppresses the androgen receptor and transforming growth factor beta signaling pathways though interactions with Smad proteins. Overexpression of this gene may play a role in multiple types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(33209,'NCBI Gene PubMed Count',NULL,9991,NULL,NULL,NULL,37,NULL,NULL,NULL),(33210,'NCBI Gene Summary',NULL,9992,NULL,'This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(33211,'NCBI Gene PubMed Count',NULL,9992,NULL,NULL,NULL,46,NULL,NULL,NULL),(33212,'NCBI Gene PubMed Count',NULL,9993,NULL,NULL,NULL,20,NULL,NULL,NULL),(33213,'NCBI Gene Summary',NULL,9994,NULL,'This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(33214,'NCBI Gene PubMed Count',NULL,9994,NULL,NULL,NULL,10,NULL,NULL,NULL),(33215,'NCBI Gene Summary',NULL,9995,NULL,'This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(33216,'NCBI Gene PubMed Count',NULL,9995,NULL,NULL,NULL,6,NULL,NULL,NULL),(33217,'NCBI Gene PubMed Count',NULL,9996,NULL,NULL,NULL,11,NULL,NULL,NULL),(33218,'NCBI Gene Summary',NULL,9997,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein\'s central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33219,'NCBI Gene PubMed Count',NULL,9997,NULL,NULL,NULL,440,NULL,NULL,NULL),(33220,'NCBI Gene Summary',NULL,9998,NULL,'This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(33221,'NCBI Gene PubMed Count',NULL,9998,NULL,NULL,NULL,34,NULL,NULL,NULL),(33222,'NCBI Gene PubMed Count',NULL,9999,NULL,NULL,NULL,6,NULL,NULL,NULL),(33223,'NCBI Gene PubMed Count',NULL,10000,NULL,NULL,NULL,15,NULL,NULL,NULL),(33224,'NCBI Gene PubMed Count',NULL,10001,NULL,NULL,NULL,9,NULL,NULL,NULL),(33225,'NCBI Gene Summary',NULL,10002,NULL,'The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(33226,'NCBI Gene PubMed Count',NULL,10002,NULL,NULL,NULL,17,NULL,NULL,NULL),(33227,'NCBI Gene Summary',NULL,10003,NULL,'This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(33228,'NCBI Gene PubMed Count',NULL,10003,NULL,NULL,NULL,16,NULL,NULL,NULL),(33229,'NCBI Gene PubMed Count',NULL,10004,NULL,NULL,NULL,11,NULL,NULL,NULL),(33230,'NCBI Gene Summary',NULL,10005,NULL,'This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HSPE1.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(33231,'NCBI Gene PubMed Count',NULL,10005,NULL,NULL,NULL,22,NULL,NULL,NULL),(33232,'NCBI Gene PubMed Count',NULL,10006,NULL,NULL,NULL,76,NULL,NULL,NULL),(33233,'NCBI Gene PubMed Count',NULL,10007,NULL,NULL,NULL,3,NULL,NULL,NULL),(33234,'NCBI Gene Summary',NULL,10008,NULL,'This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(33235,'NCBI Gene PubMed Count',NULL,10008,NULL,NULL,NULL,111,NULL,NULL,NULL),(33236,'NCBI Gene PubMed Count',NULL,10009,NULL,NULL,NULL,9,NULL,NULL,NULL),(33237,'NCBI Gene Summary',NULL,10010,NULL,'Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33238,'NCBI Gene PubMed Count',NULL,10010,NULL,NULL,NULL,50,NULL,NULL,NULL),(33239,'NCBI Gene PubMed Count',NULL,10011,NULL,NULL,NULL,7,NULL,NULL,NULL),(33240,'NCBI Gene Summary',NULL,10012,NULL,'PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (33241,'NCBI Gene PubMed Count',NULL,10012,NULL,NULL,NULL,25,NULL,NULL,NULL),(33242,'NCBI Gene Summary',NULL,10013,NULL,'This gene encodes a member of the parvulin subfamily of the peptidyl-prolyl cis/trans isomerase protein family. The encoded protein catalyzes the isomerization of peptidylprolyl bonds, and may play a role in the cell cycle, chromatin remodeling, and/or ribosome biogenesis. The encoded protein may play an additional role in the mitochondria. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(33243,'NCBI Gene PubMed Count',NULL,10013,NULL,NULL,NULL,20,NULL,NULL,NULL),(33244,'NCBI Gene Summary',NULL,10014,NULL,'This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33245,'NCBI Gene PubMed Count',NULL,10014,NULL,NULL,NULL,69,NULL,NULL,NULL),(33246,'NCBI Gene Summary',NULL,10015,NULL,'This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(33247,'NCBI Gene PubMed Count',NULL,10015,NULL,NULL,NULL,17,NULL,NULL,NULL),(33248,'NCBI Gene Summary',NULL,10016,NULL,'The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(33249,'NCBI Gene PubMed Count',NULL,10016,NULL,NULL,NULL,20,NULL,NULL,NULL),(33250,'NCBI Gene Summary',NULL,10017,NULL,'This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33251,'NCBI Gene PubMed Count',NULL,10017,NULL,NULL,NULL,13,NULL,NULL,NULL),(33252,'NCBI Gene Summary',NULL,10018,NULL,'This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(33253,'NCBI Gene PubMed Count',NULL,10018,NULL,NULL,NULL,12,NULL,NULL,NULL),(33254,'NCBI Gene Summary',NULL,10019,NULL,'This gene encodes a large protein that contains a pleckstrin homology domain and may function as a guanine nucleotide exchange factor. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(33255,'NCBI Gene PubMed Count',NULL,10019,NULL,NULL,NULL,6,NULL,NULL,NULL),(33256,'NCBI Gene PubMed Count',NULL,10020,NULL,NULL,NULL,9,NULL,NULL,NULL),(33257,'NCBI Gene PubMed Count',NULL,10021,NULL,NULL,NULL,12,NULL,NULL,NULL),(33258,'NCBI Gene Summary',NULL,10022,NULL,'This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(33259,'NCBI Gene PubMed Count',NULL,10022,NULL,NULL,NULL,8,NULL,NULL,NULL),(33260,'NCBI Gene PubMed Count',NULL,10023,NULL,NULL,NULL,8,NULL,NULL,NULL),(33261,'NCBI Gene Summary',NULL,10024,NULL,'This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(33262,'NCBI Gene PubMed Count',NULL,10024,NULL,NULL,NULL,257,NULL,NULL,NULL),(33263,'NCBI Gene Summary',NULL,10025,NULL,'This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(33264,'NCBI Gene PubMed Count',NULL,10025,NULL,NULL,NULL,66,NULL,NULL,NULL),(33265,'NCBI Gene Summary',NULL,10026,NULL,'This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(33266,'NCBI Gene PubMed Count',NULL,10026,NULL,NULL,NULL,60,NULL,NULL,NULL),(33267,'NCBI Gene Summary',NULL,10027,NULL,'The protein encoded by this gene is a member of the highly conserved polo-like kinase family of serine/threonine kinases. Members of this family are characterized by an amino-terminal kinase domain and a carboxy-terminal bipartite polo box domain that functions as a substrate-binding motif and a cellular localization signal. Polo-like kinases are important regulators of cell cycle progression. This gene has also been implicated in stress responses and double-strand break repair. In human cell lines, this protein is reported to associate with centrosomes in a microtubule-dependent manner, and during mitosis, the protein becomes localized to the mitotic apparatus. Expression of a kinase-defective mutant results in abnormal cell morphology caused by changes in microtubule dynamics and mitotic arrest followed by apoptosis. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(33268,'NCBI Gene PubMed Count',NULL,10027,NULL,NULL,NULL,62,NULL,NULL,NULL),(33269,'NCBI Gene PubMed Count',NULL,10028,NULL,NULL,NULL,10,NULL,NULL,NULL),(33270,'NCBI Gene Summary',NULL,10029,NULL,'This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(33271,'NCBI Gene PubMed Count',NULL,10029,NULL,NULL,NULL,45,NULL,NULL,NULL),(33272,'NCBI Gene Summary',NULL,10030,NULL,'Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(33273,'NCBI Gene PubMed Count',NULL,10030,NULL,NULL,NULL,51,NULL,NULL,NULL),(33274,'NCBI Gene PubMed Count',NULL,10031,NULL,NULL,NULL,20,NULL,NULL,NULL),(33275,'NCBI Gene Summary',NULL,10032,NULL,'Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33276,'NCBI Gene PubMed Count',NULL,10032,NULL,NULL,NULL,22,NULL,NULL,NULL),(33277,'NCBI Gene Summary',NULL,10033,NULL,'This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(33278,'NCBI Gene PubMed Count',NULL,10033,NULL,NULL,NULL,31,NULL,NULL,NULL),(33279,'NCBI Gene PubMed Count',NULL,10034,NULL,NULL,NULL,67,NULL,NULL,NULL),(33280,'NCBI Gene Summary',NULL,10035,NULL,'Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(33281,'NCBI Gene PubMed Count',NULL,10035,NULL,NULL,NULL,31,NULL,NULL,NULL),(33282,'NCBI Gene Summary',NULL,10036,NULL,'This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33283,'NCBI Gene PubMed Count',NULL,10036,NULL,NULL,NULL,45,NULL,NULL,NULL),(33284,'NCBI Gene Summary',NULL,10037,NULL,'This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5\' phosphorylation and 3\' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(33285,'NCBI Gene PubMed Count',NULL,10037,NULL,NULL,NULL,53,NULL,NULL,NULL),(33286,'NCBI Gene Summary',NULL,10038,NULL,'The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33287,'NCBI Gene PubMed Count',NULL,10038,NULL,NULL,NULL,24,NULL,NULL,NULL),(33288,'NCBI Gene Summary',NULL,10039,NULL,'The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33289,'NCBI Gene PubMed Count',NULL,10039,NULL,NULL,NULL,18,NULL,NULL,NULL),(33290,'NCBI Gene Summary',NULL,10040,NULL,'This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33291,'NCBI Gene PubMed Count',NULL,10040,NULL,NULL,NULL,46,NULL,NULL,NULL),(33292,'NCBI Gene Summary',NULL,10041,NULL,'This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(33293,'NCBI Gene PubMed Count',NULL,10041,NULL,NULL,NULL,44,NULL,NULL,NULL),(33294,'NCBI Gene Summary',NULL,10042,NULL,'The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(33295,'NCBI Gene PubMed Count',NULL,10042,NULL,NULL,NULL,109,NULL,NULL,NULL),(33296,'NCBI Gene PubMed Count',NULL,10043,NULL,NULL,NULL,6,NULL,NULL,NULL),(33297,'NCBI Gene Summary',NULL,10044,NULL,'This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(33298,'NCBI Gene PubMed Count',NULL,10044,NULL,NULL,NULL,17,NULL,NULL,NULL),(33299,'NCBI Gene Summary',NULL,10045,NULL,'This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3\' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(33300,'NCBI Gene PubMed Count',NULL,10045,NULL,NULL,NULL,150,NULL,NULL,NULL),(33301,'NCBI Gene PubMed Count',NULL,10046,NULL,NULL,NULL,6,NULL,NULL,NULL),(33302,'NCBI Gene Summary',NULL,10047,NULL,'Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3\'-phosphoadenosine 5\'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33303,'NCBI Gene PubMed Count',NULL,10047,NULL,NULL,NULL,27,NULL,NULL,NULL),(33304,'NCBI Gene PubMed Count',NULL,10048,NULL,NULL,NULL,14,NULL,NULL,NULL),(33305,'NCBI Gene Summary',NULL,10049,NULL,'PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM, May 2008]',NULL,NULL,NULL,NULL,NULL),(33306,'NCBI Gene PubMed Count',NULL,10049,NULL,NULL,NULL,14,NULL,NULL,NULL),(33307,'NCBI Gene Summary',NULL,10050,NULL,'This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson\'s disease. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(33308,'NCBI Gene PubMed Count',NULL,10050,NULL,NULL,NULL,39,NULL,NULL,NULL),(33309,'NCBI Gene Summary',NULL,10051,NULL,'The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(33310,'NCBI Gene PubMed Count',NULL,10051,NULL,NULL,NULL,25,NULL,NULL,NULL),(33311,'NCBI Gene Summary',NULL,10052,NULL,'This intronless gene is thought to have been generated by retrotransposition of a fully processed PCBP-2 mRNA. This gene and PCBP-2 have paralogues (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. The protein encoded by this gene appears to be multifunctional. It along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein. It contains three K-homologous (KH) domains which may be involved in RNA binding. This encoded protein together with PCBP-2 also functions as translational coactivators of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES and promote poliovirus RNA replication by binding to its 5\'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human Papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33312,'NCBI Gene PubMed Count',NULL,10052,NULL,NULL,NULL,105,NULL,NULL,NULL),(33313,'NCBI Gene Summary',NULL,10053,NULL,'The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(33314,'NCBI Gene PubMed Count',NULL,10053,NULL,NULL,NULL,52,NULL,NULL,NULL),(33315,'NCBI Gene Summary',NULL,10054,NULL,'This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33316,'NCBI Gene PubMed Count',NULL,10054,NULL,NULL,NULL,19,NULL,NULL,NULL),(33317,'NCBI Gene Summary',NULL,10055,NULL,'This gene encodes a large protein that contains many cadherin domains and likely functions in cell adhesion. Genome-wide association studies suggest that this gene may be important in Alzheimer\'s disease, compressive strength index, and appendicular lean mass. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(33318,'NCBI Gene PubMed Count',NULL,10055,NULL,NULL,NULL,15,NULL,NULL,NULL),(33319,'NCBI Gene Summary',NULL,10056,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33320,'NCBI Gene PubMed Count',NULL,10056,NULL,NULL,NULL,13,NULL,NULL,NULL),(33321,'NCBI Gene Summary',NULL,10057,NULL,'This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33322,'NCBI Gene PubMed Count',NULL,10057,NULL,NULL,NULL,26,NULL,NULL,NULL),(33323,'NCBI Gene Summary',NULL,10058,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33324,'NCBI Gene PubMed Count',NULL,10058,NULL,NULL,NULL,9,NULL,NULL,NULL),(33325,'NCBI Gene Summary',NULL,10059,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33326,'NCBI Gene PubMed Count',NULL,10059,NULL,NULL,NULL,8,NULL,NULL,NULL),(33327,'NCBI Gene Summary',NULL,10060,NULL,'The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(33328,'NCBI Gene PubMed Count',NULL,10060,NULL,NULL,NULL,65,NULL,NULL,NULL),(33329,'NCBI Gene PubMed Count',NULL,10061,NULL,NULL,NULL,14,NULL,NULL,NULL),(33330,'NCBI Gene Summary',NULL,10062,NULL,'This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(33331,'NCBI Gene PubMed Count',NULL,10062,NULL,NULL,NULL,17,NULL,NULL,NULL),(33332,'NCBI Gene PubMed Count',NULL,10063,NULL,NULL,NULL,8,NULL,NULL,NULL),(33333,'NCBI Gene Summary',NULL,10064,NULL,'This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer\'s disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(33334,'NCBI Gene PubMed Count',NULL,10064,NULL,NULL,NULL,51,NULL,NULL,NULL),(33335,'NCBI Gene Summary',NULL,10065,NULL,'Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33336,'NCBI Gene PubMed Count',NULL,10065,NULL,NULL,NULL,23,NULL,NULL,NULL),(33337,'NCBI Gene Summary',NULL,10066,NULL,'PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(33338,'NCBI Gene PubMed Count',NULL,10066,NULL,NULL,NULL,5,NULL,NULL,NULL),(33339,'NCBI Gene Summary',NULL,10067,NULL,'Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer\'s disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(33340,'NCBI Gene PubMed Count',NULL,10067,NULL,NULL,NULL,358,NULL,NULL,NULL),(33341,'NCBI Gene PubMed Count',NULL,10068,NULL,NULL,NULL,2,NULL,NULL,NULL),(33342,'NCBI Gene Summary',NULL,10069,NULL,'This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33343,'NCBI Gene PubMed Count',NULL,10069,NULL,NULL,NULL,21,NULL,NULL,NULL),(33344,'NCBI Gene Summary',NULL,10070,NULL,'This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(33345,'NCBI Gene PubMed Count',NULL,10070,NULL,NULL,NULL,12,NULL,NULL,NULL),(33346,'NCBI Gene Summary',NULL,10071,NULL,'This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(33347,'NCBI Gene PubMed Count',NULL,10071,NULL,NULL,NULL,18,NULL,NULL,NULL),(33348,'NCBI Gene Summary',NULL,10072,NULL,'This locus is a transcribed pseudogene with similarity to two adjacent chromosome 1 loci: phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A, GeneID 8394) and proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4, GeneID 5710). The pseudogene is believed to have occurred from L1 retrotransposition into chromosome 10 of a read-through transcript between the two adjacent loci. Evidence of transcription has been found (PubMed IDs: 16344562 and 17623810), but the latter publication found no evidence that the predicted protein is translated. The NCBI RefSeq Project therefore continues to treat this as a transcribed pseudogene. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(33349,'NCBI Gene PubMed Count',NULL,10072,NULL,NULL,NULL,6,NULL,NULL,NULL),(33350,'NCBI Gene PubMed Count',NULL,10073,NULL,NULL,NULL,64,NULL,NULL,NULL),(33351,'NCBI Gene Summary',NULL,10074,NULL,'This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33352,'NCBI Gene PubMed Count',NULL,10074,NULL,NULL,NULL,170,NULL,NULL,NULL),(33353,'NCBI Gene PubMed Count',NULL,10075,NULL,NULL,NULL,17,NULL,NULL,NULL),(33354,'NCBI Gene Summary',NULL,10076,NULL,'This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(33355,'NCBI Gene PubMed Count',NULL,10076,NULL,NULL,NULL,14,NULL,NULL,NULL),(33356,'NCBI Gene PubMed Count',NULL,10077,NULL,NULL,NULL,18,NULL,NULL,NULL),(33357,'NCBI Gene PubMed Count',NULL,10078,NULL,NULL,NULL,6,NULL,NULL,NULL),(33358,'NCBI Gene PubMed Count',NULL,10079,NULL,NULL,NULL,4,NULL,NULL,NULL),(33359,'NCBI Gene Summary',NULL,10080,NULL,'This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, and the reference genome encodes a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2019]',NULL,NULL,NULL,NULL,NULL),(33360,'NCBI Gene PubMed Count',NULL,10080,NULL,NULL,NULL,13,NULL,NULL,NULL),(33361,'NCBI Gene Summary',NULL,10081,NULL,'The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(33362,'NCBI Gene PubMed Count',NULL,10081,NULL,NULL,NULL,22,NULL,NULL,NULL),(33363,'NCBI Gene Summary',NULL,10082,NULL,'The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33364,'NCBI Gene PubMed Count',NULL,10082,NULL,NULL,NULL,83,NULL,NULL,NULL),(33365,'NCBI Gene PubMed Count',NULL,10083,NULL,NULL,NULL,15,NULL,NULL,NULL),(33366,'NCBI Gene Summary',NULL,10084,NULL,'This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(33367,'NCBI Gene PubMed Count',NULL,10084,NULL,NULL,NULL,31,NULL,NULL,NULL),(33368,'NCBI Gene Summary',NULL,10085,NULL,'This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(33369,'NCBI Gene PubMed Count',NULL,10085,NULL,NULL,NULL,46,NULL,NULL,NULL),(33370,'NCBI Gene Summary',NULL,10086,NULL,'This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33371,'NCBI Gene PubMed Count',NULL,10086,NULL,NULL,NULL,28,NULL,NULL,NULL),(33372,'NCBI Gene Summary',NULL,10087,NULL,'This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(33373,'NCBI Gene PubMed Count',NULL,10087,NULL,NULL,NULL,26,NULL,NULL,NULL),(33374,'NCBI Gene PubMed Count',NULL,10088,NULL,NULL,NULL,6,NULL,NULL,NULL),(33375,'NCBI Gene PubMed Count',NULL,10089,NULL,NULL,NULL,3,NULL,NULL,NULL),(33376,'NCBI Gene Summary',NULL,10090,NULL,'The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(33377,'NCBI Gene PubMed Count',NULL,10090,NULL,NULL,NULL,80,NULL,NULL,NULL),(33378,'NCBI Gene PubMed Count',NULL,10091,NULL,NULL,NULL,40,NULL,NULL,NULL),(33379,'NCBI Gene Summary',NULL,10092,NULL,'Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(33380,'NCBI Gene PubMed Count',NULL,10092,NULL,NULL,NULL,43,NULL,NULL,NULL),(33381,'NCBI Gene Summary',NULL,10093,NULL,'The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(33382,'NCBI Gene PubMed Count',NULL,10093,NULL,NULL,NULL,9,NULL,NULL,NULL),(33383,'NCBI Gene Summary',NULL,10094,NULL,'This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated tumors. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(33384,'NCBI Gene PubMed Count',NULL,10094,NULL,NULL,NULL,16,NULL,NULL,NULL),(33385,'NCBI Gene PubMed Count',NULL,10096,NULL,NULL,NULL,11,NULL,NULL,NULL),(33386,'NCBI Gene PubMed Count',NULL,10097,NULL,NULL,NULL,4,NULL,NULL,NULL),(33387,'NCBI Gene Summary',NULL,10098,NULL,'Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called \"POF1\" and \"POF2\" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene\'s expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(33388,'NCBI Gene PubMed Count',NULL,10098,NULL,NULL,NULL,14,NULL,NULL,NULL),(33389,'NCBI Gene Summary',NULL,10099,NULL,'The protein encoded by this gene is an error-prone DNA polymerase involved in DNA repair. The encoded protein promotes DNA synthesis across lesions in the template DNA, which other polymerases cannot do. The encoded polymerase inserts deoxynucleotides across lesions and then relies on DNA polymerase zeta to extend the nascent DNA strand to bypass the lesion. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(33390,'NCBI Gene PubMed Count',NULL,10099,NULL,NULL,NULL,91,NULL,NULL,NULL),(33391,'NCBI Gene Summary',NULL,10100,NULL,'This gene is a member of a small family of genes derived from piggyBac transposable elements. The encoded protein contains a zinc-ribbon domain characteristic of transposon-derived proteins and may function as a regulator of transcription. Alternative splicing occurs between a splice site from exon 5 of the adjacent upstream gene \'excision repair cross-complementation group 6\' (ERCC6, GeneID: 2074) and the 3\' splice site upstream of the open reading frame (ORF) of this gene, which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. Pseudogenes for this gene are defined on chromosomes 4, 5 and 12. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(33392,'NCBI Gene PubMed Count',NULL,10100,NULL,NULL,NULL,9,NULL,NULL,NULL),(33393,'NCBI Gene PubMed Count',NULL,10101,NULL,NULL,NULL,15,NULL,NULL,NULL),(33394,'NCBI Gene Summary',NULL,10102,NULL,'This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(33395,'NCBI Gene PubMed Count',NULL,10102,NULL,NULL,NULL,449,NULL,NULL,NULL),(33396,'NCBI Gene PubMed Count',NULL,10103,NULL,NULL,NULL,16,NULL,NULL,NULL),(33397,'NCBI Gene Summary',NULL,10104,NULL,'This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33398,'NCBI Gene PubMed Count',NULL,10104,NULL,NULL,NULL,22,NULL,NULL,NULL),(33399,'NCBI Gene Summary',NULL,10105,NULL,'This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron\'s branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33400,'NCBI Gene PubMed Count',NULL,10105,NULL,NULL,NULL,16,NULL,NULL,NULL),(33401,'NCBI Gene Summary',NULL,10106,NULL,'This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(33402,'NCBI Gene PubMed Count',NULL,10106,NULL,NULL,NULL,25,NULL,NULL,NULL),(33403,'NCBI Gene Summary',NULL,10107,NULL,'This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(33404,'NCBI Gene PubMed Count',NULL,10107,NULL,NULL,NULL,40,NULL,NULL,NULL),(33405,'NCBI Gene Summary',NULL,10108,NULL,'Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(33406,'NCBI Gene PubMed Count',NULL,10108,NULL,NULL,NULL,13,NULL,NULL,NULL),(33407,'NCBI Gene Summary',NULL,10109,NULL,'This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(33408,'NCBI Gene PubMed Count',NULL,10109,NULL,NULL,NULL,19,NULL,NULL,NULL),(33409,'NCBI Gene Summary',NULL,10110,NULL,'This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(33410,'NCBI Gene PubMed Count',NULL,10110,NULL,NULL,NULL,16,NULL,NULL,NULL),(33411,'NCBI Gene PubMed Count',NULL,10111,NULL,NULL,NULL,23,NULL,NULL,NULL),(33412,'NCBI Gene Summary',NULL,10112,NULL,'This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33413,'NCBI Gene PubMed Count',NULL,10112,NULL,NULL,NULL,9,NULL,NULL,NULL),(33414,'NCBI Gene Summary',NULL,10113,NULL,'This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33415,'NCBI Gene PubMed Count',NULL,10113,NULL,NULL,NULL,13,NULL,NULL,NULL),(33416,'NCBI Gene PubMed Count',NULL,10114,NULL,NULL,NULL,19,NULL,NULL,NULL),(33417,'NCBI Gene Summary',NULL,10115,NULL,'The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33418,'NCBI Gene PubMed Count',NULL,10115,NULL,NULL,NULL,104,NULL,NULL,NULL),(33419,'NCBI Gene Summary',NULL,10116,NULL,'RERG, a member of the RAS superfamily of GTPases, inhibits cell proliferation and tumor formation (Finlin et al., 2001 [PubMed 11533059]).[supplied by OMIM, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(33420,'NCBI Gene PubMed Count',NULL,10116,NULL,NULL,NULL,14,NULL,NULL,NULL),(33421,'NCBI Gene Summary',NULL,10117,NULL,'This gene encodes an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. This protein may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(33422,'NCBI Gene PubMed Count',NULL,10117,NULL,NULL,NULL,24,NULL,NULL,NULL),(33423,'NCBI Gene Summary',NULL,10118,NULL,'The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33424,'NCBI Gene PubMed Count',NULL,10118,NULL,NULL,NULL,54,NULL,NULL,NULL),(33425,'NCBI Gene Summary',NULL,10119,NULL,'The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33426,'NCBI Gene PubMed Count',NULL,10119,NULL,NULL,NULL,11,NULL,NULL,NULL),(33427,'NCBI Gene Summary',NULL,10120,NULL,'The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(33428,'NCBI Gene PubMed Count',NULL,10120,NULL,NULL,NULL,70,NULL,NULL,NULL),(33429,'NCBI Gene Summary',NULL,10121,NULL,'This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(33430,'NCBI Gene PubMed Count',NULL,10121,NULL,NULL,NULL,21,NULL,NULL,NULL),(33431,'NCBI Gene Summary',NULL,10122,NULL,'The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33432,'NCBI Gene PubMed Count',NULL,10122,NULL,NULL,NULL,39,NULL,NULL,NULL),(33433,'NCBI Gene Summary',NULL,10123,NULL,'This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(33434,'NCBI Gene PubMed Count',NULL,10123,NULL,NULL,NULL,14,NULL,NULL,NULL),(33435,'NCBI Gene Summary',NULL,10124,NULL,'This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(33436,'NCBI Gene PubMed Count',NULL,10124,NULL,NULL,NULL,16,NULL,NULL,NULL),(33437,'NCBI Gene Summary',NULL,10125,NULL,'This gene encodes a protein containing a PHD (plant homeodomain) type zinc finger. This gene has been identified in some studies as a candidate gene for asthma. Naturally-occurring readthrough transcription may occur from the upstream SETDB2 (SET domain bifurcated 2) gene to this locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(33438,'NCBI Gene PubMed Count',NULL,10125,NULL,NULL,NULL,32,NULL,NULL,NULL),(33439,'NCBI Gene PubMed Count',NULL,10126,NULL,NULL,NULL,15,NULL,NULL,NULL),(33440,'NCBI Gene PubMed Count',NULL,10127,NULL,NULL,NULL,12,NULL,NULL,NULL),(33441,'NCBI Gene PubMed Count',NULL,10128,NULL,NULL,NULL,11,NULL,NULL,NULL),(33442,'NCBI Gene Summary',NULL,10129,NULL,'This gene encodes an enzyme that catalyzes the reversible dephosphorylation of histidine residues in proteins. It may be involved in the dephosphorylation of G-beta and ATP citrate lyase and in negatively regulating CD4 T lymphocytes by dephosphorylation and inhibition of KCa3.1 channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(33443,'NCBI Gene PubMed Count',NULL,10129,NULL,NULL,NULL,40,NULL,NULL,NULL),(33444,'NCBI Gene Summary',NULL,10130,NULL,'The paired immunoglobin-like type 2 receptors consist of highly related activating and inhibitory receptors that are involved in the regulation of many aspects of the immune system. The paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This gene encodes the activating member of the receptor pair and contains a truncated cytoplasmic tail relative to its inhibitory counterpart (PILRA), that has a long cytoplasmic tail with immunoreceptor tyrosine-based inhibitory (ITIM) motifs. This gene is thought to have arisen from a duplication of the inhibitory PILRA gene and evolved to acquire its activating function. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(33445,'NCBI Gene PubMed Count',NULL,10130,NULL,NULL,NULL,14,NULL,NULL,NULL),(33446,'NCBI Gene PubMed Count',NULL,10131,NULL,NULL,NULL,23,NULL,NULL,NULL),(33447,'NCBI Gene PubMed Count',NULL,10132,NULL,NULL,NULL,49,NULL,NULL,NULL),(33448,'NCBI Gene PubMed Count',NULL,10133,NULL,NULL,NULL,64,NULL,NULL,NULL),(33449,'NCBI Gene Summary',NULL,10134,NULL,'This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33450,'NCBI Gene PubMed Count',NULL,10134,NULL,NULL,NULL,108,NULL,NULL,NULL),(33451,'NCBI Gene Summary',NULL,10135,NULL,'This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(33452,'NCBI Gene PubMed Count',NULL,10135,NULL,NULL,NULL,38,NULL,NULL,NULL),(33453,'NCBI Gene Summary',NULL,10136,NULL,'Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(33454,'NCBI Gene PubMed Count',NULL,10136,NULL,NULL,NULL,1246,NULL,NULL,NULL),(33455,'NCBI Gene PubMed Count',NULL,10137,NULL,NULL,NULL,4,NULL,NULL,NULL),(33456,'NCBI Gene Summary',NULL,10138,NULL,'This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33457,'NCBI Gene PubMed Count',NULL,10138,NULL,NULL,NULL,33,NULL,NULL,NULL),(33458,'NCBI Gene Summary',NULL,10139,NULL,'The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33459,'NCBI Gene PubMed Count',NULL,10139,NULL,NULL,NULL,17,NULL,NULL,NULL),(33460,'NCBI Gene Summary',NULL,10140,NULL,'Members of the perilipin family, such as PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(33461,'NCBI Gene PubMed Count',NULL,10140,NULL,NULL,NULL,14,NULL,NULL,NULL),(33462,'NCBI Gene PubMed Count',NULL,10141,NULL,NULL,NULL,5,NULL,NULL,NULL),(33463,'NCBI Gene Summary',NULL,10142,NULL,'The protein encoded by this gene is a secreted blood zymogen that is activated by proteolysis and converted to plasmin and angiostatin. Plasmin dissolves fibrin in blood clots and is an important protease in many other cellular processes while angiostatin inhibits angiogenesis. Defects in this gene are likely a cause of thrombophilia and ligneous conjunctivitis. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(33464,'NCBI Gene PubMed Count',NULL,10142,NULL,NULL,NULL,373,NULL,NULL,NULL),(33465,'NCBI Gene PubMed Count',NULL,10143,NULL,NULL,NULL,3,NULL,NULL,NULL),(33466,'NCBI Gene Summary',NULL,10144,NULL,'The protein encoded by this gene is a cellular retinol-binding protein expressed highly in kidney and liver. Down-regulation of the encoded protein in hepatocellular carcinoma was associated with large tumor size and poor patient survival rates. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(33467,'NCBI Gene PubMed Count',NULL,10144,NULL,NULL,NULL,10,NULL,NULL,NULL),(33468,'NCBI Gene Summary',NULL,10145,NULL,'This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33469,'NCBI Gene PubMed Count',NULL,10145,NULL,NULL,NULL,14,NULL,NULL,NULL),(33470,'NCBI Gene Summary',NULL,10146,NULL,'The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33471,'NCBI Gene PubMed Count',NULL,10146,NULL,NULL,NULL,128,NULL,NULL,NULL),(33472,'NCBI Gene Summary',NULL,10147,NULL,'The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(33473,'NCBI Gene PubMed Count',NULL,10147,NULL,NULL,NULL,61,NULL,NULL,NULL),(33474,'NCBI Gene Summary',NULL,10148,NULL,'Summary: This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls. This antimicrobial protein binds to murein peptidoglycans of Gram-positive bacteria. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(33475,'NCBI Gene PubMed Count',NULL,10148,NULL,NULL,NULL,11,NULL,NULL,NULL),(33476,'NCBI Gene Summary',NULL,10149,NULL,'This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(33477,'NCBI Gene PubMed Count',NULL,10149,NULL,NULL,NULL,37,NULL,NULL,NULL),(33478,'NCBI Gene Summary',NULL,10150,NULL,'This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(33479,'NCBI Gene PubMed Count',NULL,10150,NULL,NULL,NULL,69,NULL,NULL,NULL),(33480,'NCBI Gene Summary',NULL,10151,NULL,'This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33481,'NCBI Gene PubMed Count',NULL,10151,NULL,NULL,NULL,30,NULL,NULL,NULL),(33482,'NCBI Gene Summary',NULL,10152,NULL,'The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33483,'NCBI Gene PubMed Count',NULL,10152,NULL,NULL,NULL,34,NULL,NULL,NULL),(33484,'NCBI Gene PubMed Count',NULL,10153,NULL,NULL,NULL,15,NULL,NULL,NULL),(33485,'NCBI Gene Summary',NULL,10154,NULL,'This gene encodes a protooncogene that acts as a serine/threonine protein kinase. Studies determined the encoded protein functions to prevent apoptosis and to promote cell survival.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(33486,'NCBI Gene PubMed Count',NULL,10154,NULL,NULL,NULL,56,NULL,NULL,NULL),(33487,'NCBI Gene Summary',NULL,10155,NULL,'This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33488,'NCBI Gene PubMed Count',NULL,10155,NULL,NULL,NULL,14,NULL,NULL,NULL),(33489,'NCBI Gene Summary',NULL,10156,NULL,'PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(33490,'NCBI Gene PubMed Count',NULL,10156,NULL,NULL,NULL,12,NULL,NULL,NULL),(33491,'NCBI Gene Summary',NULL,10157,NULL,'This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(33492,'NCBI Gene PubMed Count',NULL,10157,NULL,NULL,NULL,198,NULL,NULL,NULL),(33493,'NCBI Gene PubMed Count',NULL,10158,NULL,NULL,NULL,34,NULL,NULL,NULL),(33494,'NCBI Gene PubMed Count',NULL,10159,NULL,NULL,NULL,10,NULL,NULL,NULL),(33495,'NCBI Gene PubMed Count',NULL,10160,NULL,NULL,NULL,13,NULL,NULL,NULL),(33496,'NCBI Gene Summary',NULL,10161,NULL,'The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(33497,'NCBI Gene PubMed Count',NULL,10161,NULL,NULL,NULL,18,NULL,NULL,NULL),(33498,'NCBI Gene Summary',NULL,10162,NULL,'This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(33499,'NCBI Gene PubMed Count',NULL,10162,NULL,NULL,NULL,150,NULL,NULL,NULL),(33500,'NCBI Gene PubMed Count',NULL,10163,NULL,NULL,NULL,9,NULL,NULL,NULL),(33501,'NCBI Gene Summary',NULL,10164,NULL,'Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(33502,'NCBI Gene PubMed Count',NULL,10164,NULL,NULL,NULL,110,NULL,NULL,NULL),(33503,'NCBI Gene PubMed Count',NULL,10165,NULL,NULL,NULL,9,NULL,NULL,NULL),(33504,'NCBI Gene PubMed Count',NULL,10166,NULL,NULL,NULL,28,NULL,NULL,NULL),(33505,'NCBI Gene Summary',NULL,10167,NULL,'The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and elevated levels are found in many different types of cancer. Depletion of this protein in cancer cells dramatically inhibited cell proliferation and induced apoptosis; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(33506,'NCBI Gene PubMed Count',NULL,10167,NULL,NULL,NULL,569,NULL,NULL,NULL),(33507,'NCBI Gene Summary',NULL,10168,NULL,'This gene encodes a pyridoxal 5\'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5\'-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Naturally occurring mutations in this gene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(33508,'NCBI Gene PubMed Count',NULL,10168,NULL,NULL,NULL,15,NULL,NULL,NULL),(33509,'NCBI Gene Summary',NULL,10169,NULL,' This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33510,'NCBI Gene PubMed Count',NULL,10169,NULL,NULL,NULL,319,NULL,NULL,NULL),(33511,'NCBI Gene Summary',NULL,10170,NULL,'The protein encoded by this gene is a member of the cellular retinol-binding protein (CRBP) family, whose members are required for vitamin A stability and metabolism. The encoded protein binds all-trans-retinol and is structurally similar to other CRBPs; however, it has a lower binding affinity for retinol than other CRBPs. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(33512,'NCBI Gene PubMed Count',NULL,10170,NULL,NULL,NULL,6,NULL,NULL,NULL),(33513,'NCBI Gene Summary',NULL,10171,NULL,'This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(33514,'NCBI Gene PubMed Count',NULL,10171,NULL,NULL,NULL,94,NULL,NULL,NULL),(33515,'NCBI Gene Summary',NULL,10172,NULL,'The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33516,'NCBI Gene PubMed Count',NULL,10172,NULL,NULL,NULL,262,NULL,NULL,NULL),(33517,'NCBI Gene Summary',NULL,10173,NULL,'This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(33518,'NCBI Gene PubMed Count',NULL,10173,NULL,NULL,NULL,16,NULL,NULL,NULL),(33519,'NCBI Gene Summary',NULL,10174,NULL,'Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]',NULL,NULL,NULL,NULL,NULL),(33520,'NCBI Gene PubMed Count',NULL,10174,NULL,NULL,NULL,10,NULL,NULL,NULL),(33521,'NCBI Gene PubMed Count',NULL,10175,NULL,NULL,NULL,16,NULL,NULL,NULL),(33522,'NCBI Gene Summary',NULL,10176,NULL,'This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(33523,'NCBI Gene PubMed Count',NULL,10176,NULL,NULL,NULL,5,NULL,NULL,NULL),(33524,'NCBI Gene Summary',NULL,10177,NULL,'This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(33525,'NCBI Gene PubMed Count',NULL,10177,NULL,NULL,NULL,88,NULL,NULL,NULL),(33526,'NCBI Gene PubMed Count',NULL,10178,NULL,NULL,NULL,11,NULL,NULL,NULL),(33527,'NCBI Gene Summary',NULL,10179,NULL,'The protein encoded by this gene belongs to the phospholipase A2 (PLA2) group of enzymes, which function in glycolipid hydrolysis with the release of free fatty acids and lysophospholipids. This family member has altered phospholipid-binding properties and is catalytically inactive. The protein is secreted, and together with microsomal triglyceride transfer protein, it functions to regulate HNF4alpha-induced hepatitis C virus infectivity. The expression of this gene is down-regulated in various tumors, suggesting that it may function as a negative regulator of tumor progression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(33528,'NCBI Gene PubMed Count',NULL,10179,NULL,NULL,NULL,15,NULL,NULL,NULL),(33529,'NCBI Gene PubMed Count',NULL,10180,NULL,NULL,NULL,15,NULL,NULL,NULL),(33530,'NCBI Gene PubMed Count',NULL,10181,NULL,NULL,NULL,27,NULL,NULL,NULL),(33531,'NCBI Gene PubMed Count',NULL,10182,NULL,NULL,NULL,16,NULL,NULL,NULL),(33532,'NCBI Gene Summary',NULL,10183,NULL,'This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(33533,'NCBI Gene PubMed Count',NULL,10183,NULL,NULL,NULL,47,NULL,NULL,NULL),(33534,'NCBI Gene Summary',NULL,10184,NULL,'The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(33535,'NCBI Gene PubMed Count',NULL,10184,NULL,NULL,NULL,47,NULL,NULL,NULL),(33536,'NCBI Gene PubMed Count',NULL,10185,NULL,NULL,NULL,18,NULL,NULL,NULL),(33537,'NCBI Gene PubMed Count',NULL,10186,NULL,NULL,NULL,12,NULL,NULL,NULL),(33538,'NCBI Gene Summary',NULL,10187,NULL,'Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(33539,'NCBI Gene PubMed Count',NULL,10187,NULL,NULL,NULL,16,NULL,NULL,NULL),(33540,'NCBI Gene Summary',NULL,10188,NULL,'The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(33541,'NCBI Gene PubMed Count',NULL,10188,NULL,NULL,NULL,32,NULL,NULL,NULL),(33542,'NCBI Gene Summary',NULL,10189,NULL,'The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33543,'NCBI Gene PubMed Count',NULL,10189,NULL,NULL,NULL,22,NULL,NULL,NULL),(33544,'NCBI Gene Summary',NULL,10190,NULL,'The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(33545,'NCBI Gene PubMed Count',NULL,10190,NULL,NULL,NULL,8,NULL,NULL,NULL),(33546,'NCBI Gene Summary',NULL,10191,NULL,'The protein encoded by this gene catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(33547,'NCBI Gene PubMed Count',NULL,10191,NULL,NULL,NULL,21,NULL,NULL,NULL),(33548,'NCBI Gene Summary',NULL,10192,NULL,'This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(33549,'NCBI Gene PubMed Count',NULL,10192,NULL,NULL,NULL,17,NULL,NULL,NULL),(33550,'NCBI Gene Summary',NULL,10193,NULL,'This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(33551,'NCBI Gene PubMed Count',NULL,10193,NULL,NULL,NULL,54,NULL,NULL,NULL),(33552,'NCBI Gene Summary',NULL,10194,NULL,'This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33553,'NCBI Gene PubMed Count',NULL,10194,NULL,NULL,NULL,42,NULL,NULL,NULL),(33554,'NCBI Gene Summary',NULL,10195,NULL,'This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(33555,'NCBI Gene PubMed Count',NULL,10195,NULL,NULL,NULL,48,NULL,NULL,NULL),(33556,'NCBI Gene Summary',NULL,10196,NULL,'The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(33557,'NCBI Gene PubMed Count',NULL,10196,NULL,NULL,NULL,101,NULL,NULL,NULL),(33558,'NCBI Gene PubMed Count',NULL,10197,NULL,NULL,NULL,10,NULL,NULL,NULL),(33559,'NCBI Gene Summary',NULL,10198,NULL,'The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33560,'NCBI Gene PubMed Count',NULL,10198,NULL,NULL,NULL,50,NULL,NULL,NULL),(33561,'NCBI Gene Summary',NULL,10199,NULL,'This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(33562,'NCBI Gene PubMed Count',NULL,10199,NULL,NULL,NULL,13,NULL,NULL,NULL),(33563,'NCBI Gene Summary',NULL,10200,NULL,'This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino acid residues in bacterial cell wall glycopeptides, and thus may play a scavenger role by digesting biologically active peptidoglycan into biologically inactive fragments. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(33564,'NCBI Gene PubMed Count',NULL,10200,NULL,NULL,NULL,28,NULL,NULL,NULL),(33565,'NCBI Gene PubMed Count',NULL,10201,NULL,NULL,NULL,59,NULL,NULL,NULL),(33566,'NCBI Gene Summary',NULL,10202,NULL,'The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(33567,'NCBI Gene PubMed Count',NULL,10202,NULL,NULL,NULL,42,NULL,NULL,NULL),(33568,'NCBI Gene Summary',NULL,10203,NULL,'The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(33569,'NCBI Gene PubMed Count',NULL,10203,NULL,NULL,NULL,128,NULL,NULL,NULL),(33570,'NCBI Gene Summary',NULL,10204,NULL,'This gene encodes a member of the protein inhibitor of activated STAT family, which function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(33571,'NCBI Gene PubMed Count',NULL,10204,NULL,NULL,NULL,61,NULL,NULL,NULL),(33572,'NCBI Gene Summary',NULL,10205,NULL,'This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(33573,'NCBI Gene PubMed Count',NULL,10205,NULL,NULL,NULL,19,NULL,NULL,NULL),(33574,'NCBI Gene PubMed Count',NULL,10206,NULL,NULL,NULL,13,NULL,NULL,NULL),(33575,'NCBI Gene Summary',NULL,10207,NULL,'The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33576,'NCBI Gene PubMed Count',NULL,10207,NULL,NULL,NULL,17,NULL,NULL,NULL),(33577,'NCBI Gene Summary',NULL,10208,NULL,'This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(33578,'NCBI Gene PubMed Count',NULL,10208,NULL,NULL,NULL,16,NULL,NULL,NULL),(33579,'NCBI Gene Summary',NULL,10209,NULL,'The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(33580,'NCBI Gene PubMed Count',NULL,10209,NULL,NULL,NULL,290,NULL,NULL,NULL),(33581,'NCBI Gene Summary',NULL,10210,NULL,'The protein encoded by this gene is a mutase that catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(33582,'NCBI Gene PubMed Count',NULL,10210,NULL,NULL,NULL,44,NULL,NULL,NULL),(33583,'NCBI Gene PubMed Count',NULL,10211,NULL,NULL,NULL,6,NULL,NULL,NULL),(33584,'NCBI Gene Summary',NULL,10212,NULL,'Retinoic acid plays a critical role in development, cellular growth, and differentiation. The specific function of this retinoic acid-induced gene has not yet been determined but it may play a role in development. The chromosomal location of this gene designates it to be a candidate for diseases such as Nance-Horan syndrome, sensorineural deafness, non-specific X-linked cognitive disability, oral-facial-digital syndrome, and Fried syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(33585,'NCBI Gene PubMed Count',NULL,10212,NULL,NULL,NULL,12,NULL,NULL,NULL),(33586,'NCBI Gene PubMed Count',NULL,10213,NULL,NULL,NULL,15,NULL,NULL,NULL),(33587,'NCBI Gene PubMed Count',NULL,10214,NULL,NULL,NULL,2,NULL,NULL,NULL),(33588,'NCBI Gene Summary',NULL,10215,NULL,'The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(33589,'NCBI Gene PubMed Count',NULL,10215,NULL,NULL,NULL,60,NULL,NULL,NULL),(33590,'NCBI Gene PubMed Count',NULL,10216,NULL,NULL,NULL,3,NULL,NULL,NULL),(33591,'NCBI Gene PubMed Count',NULL,10217,NULL,NULL,NULL,37,NULL,NULL,NULL),(33592,'NCBI Gene Summary',NULL,10219,NULL,'The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(33593,'NCBI Gene PubMed Count',NULL,10219,NULL,NULL,NULL,44,NULL,NULL,NULL),(33594,'NCBI Gene PubMed Count',NULL,10220,NULL,NULL,NULL,28,NULL,NULL,NULL),(33595,'NCBI Gene PubMed Count',NULL,10221,NULL,NULL,NULL,8,NULL,NULL,NULL),(33596,'NCBI Gene PubMed Count',NULL,10222,NULL,NULL,NULL,21,NULL,NULL,NULL),(33597,'NCBI Gene PubMed Count',NULL,10223,NULL,NULL,NULL,8,NULL,NULL,NULL),(33598,'NCBI Gene Summary',NULL,10224,NULL,'This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33599,'NCBI Gene PubMed Count',NULL,10224,NULL,NULL,NULL,24,NULL,NULL,NULL),(33600,'NCBI Gene Summary',NULL,10225,NULL,'The protein encoded by this gene is a scaffold protein and an intermediate signaling protein in the innate immune response pathway. The encoded protein helps transmit the immune response signal from Toll-like receptors to IRAK1/TRAF6 complexes. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(33601,'NCBI Gene PubMed Count',NULL,10225,NULL,NULL,NULL,16,NULL,NULL,NULL),(33602,'NCBI Gene Summary',NULL,10226,NULL,'Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(33603,'NCBI Gene PubMed Count',NULL,10226,NULL,NULL,NULL,60,NULL,NULL,NULL),(33604,'NCBI Gene Summary',NULL,10227,NULL,'The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(33605,'NCBI Gene PubMed Count',NULL,10227,NULL,NULL,NULL,16,NULL,NULL,NULL),(33606,'NCBI Gene Summary',NULL,10228,NULL,'This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33607,'NCBI Gene PubMed Count',NULL,10228,NULL,NULL,NULL,15,NULL,NULL,NULL),(33608,'NCBI Gene Summary',NULL,10229,NULL,'This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in bone growth, muscle development and regeneration, and collagen fibril assembly in multiple tissues. This protein may also regulate inflammation and innate immunity. Additionally, the encoded protein may contribute to atherosclerosis and aortic valve stenosis in human patients. This gene and the related gene decorin are thought to be the result of a gene duplication. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(33609,'NCBI Gene PubMed Count',NULL,10229,NULL,NULL,NULL,126,NULL,NULL,NULL),(33610,'NCBI Gene Summary',NULL,10230,NULL,'Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(33611,'NCBI Gene PubMed Count',NULL,10230,NULL,NULL,NULL,23,NULL,NULL,NULL),(33612,'NCBI Gene Summary',NULL,10231,NULL,'The protein encoded by this gene is orthologous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during meiosis. The encoded protein is conserved in most eukaryotes and was first discovered and characterized in yeast. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(33613,'NCBI Gene PubMed Count',NULL,10231,NULL,NULL,NULL,5,NULL,NULL,NULL),(33614,'NCBI Gene PubMed Count',NULL,10232,NULL,NULL,NULL,25,NULL,NULL,NULL),(33615,'NCBI Gene PubMed Count',NULL,10233,NULL,NULL,NULL,20,NULL,NULL,NULL),(33616,'NCBI Gene PubMed Count',NULL,10234,NULL,NULL,NULL,10,NULL,NULL,NULL),(33617,'NCBI Gene Summary',NULL,10235,NULL,'This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33618,'NCBI Gene PubMed Count',NULL,10235,NULL,NULL,NULL,12,NULL,NULL,NULL),(33619,'NCBI Gene PubMed Count',NULL,10236,NULL,NULL,NULL,8,NULL,NULL,NULL),(33620,'NCBI Gene PubMed Count',NULL,10237,NULL,NULL,NULL,9,NULL,NULL,NULL),(33621,'NCBI Gene Summary',NULL,10238,NULL,'The protein encoded by this gene is a multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early Golgi compartment to facilitate gamma-secretase complex assembly. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(33622,'NCBI Gene PubMed Count',NULL,10238,NULL,NULL,NULL,15,NULL,NULL,NULL),(33623,'NCBI Gene Summary',NULL,10239,NULL,'The protein encoded by this gene is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(33624,'NCBI Gene PubMed Count',NULL,10239,NULL,NULL,NULL,22,NULL,NULL,NULL),(33625,'NCBI Gene PubMed Count',NULL,10240,NULL,NULL,NULL,5,NULL,NULL,NULL),(33626,'NCBI Gene PubMed Count',NULL,10241,NULL,NULL,NULL,14,NULL,NULL,NULL),(33627,'NCBI Gene PubMed Count',NULL,10242,NULL,NULL,NULL,17,NULL,NULL,NULL),(33628,'NCBI Gene Summary',NULL,10243,NULL,'The protein encoded by this gene is a member of the regulator of G protein signaling (RGS) family. RGS family members share similarity with S. cerevisiae SST2 and C. elegans egl-10 proteins, which contain a characteristic conserved RGS domain. RGS proteins accelerate GTPase activity of G protein alpha-subunits, thereby driving G protein into their inactive GDP-bound form, thus negatively regulating G protein signaling. RGS proteins have been implicated in the fine tuning of a variety of cellular events in response to G protein-coupled receptor activation. The biological function of this gene, however, is unknown. Two transcript variants encoding the same isoform exist. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33629,'NCBI Gene PubMed Count',NULL,10243,NULL,NULL,NULL,14,NULL,NULL,NULL),(33630,'NCBI Gene Summary',NULL,10244,NULL,'This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33631,'NCBI Gene PubMed Count',NULL,10244,NULL,NULL,NULL,32,NULL,NULL,NULL),(33632,'NCBI Gene PubMed Count',NULL,10245,NULL,NULL,NULL,18,NULL,NULL,NULL),(33633,'NCBI Gene Summary',NULL,10246,NULL,'ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(33634,'NCBI Gene PubMed Count',NULL,10246,NULL,NULL,NULL,19,NULL,NULL,NULL),(33635,'NCBI Gene Summary',NULL,10247,NULL,'This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(33636,'NCBI Gene PubMed Count',NULL,10247,NULL,NULL,NULL,18,NULL,NULL,NULL),(33637,'NCBI Gene Summary',NULL,10248,NULL,'The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(33638,'NCBI Gene PubMed Count',NULL,10248,NULL,NULL,NULL,15,NULL,NULL,NULL),(33639,'NCBI Gene Summary',NULL,10249,NULL,'RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(33640,'NCBI Gene PubMed Count',NULL,10249,NULL,NULL,NULL,19,NULL,NULL,NULL),(33641,'NCBI Gene Summary',NULL,10250,NULL,'The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(33642,'NCBI Gene PubMed Count',NULL,10250,NULL,NULL,NULL,88,NULL,NULL,NULL),(33643,'NCBI Gene Summary',NULL,10251,NULL,'This gene encodes a member of the Rho GTPase activating protein family. In response to DNA damage, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this gene is one cause of Prader-Willi syndrome, and an intronic variant of this gene may be associated with sleep duration in children. This gene is highly expressed in colon cancers and in a human basal-like breast cancer cell line. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]',NULL,NULL,NULL,NULL,NULL),(33644,'NCBI Gene PubMed Count',NULL,10251,NULL,NULL,NULL,14,NULL,NULL,NULL),(33645,'NCBI Gene PubMed Count',NULL,10252,NULL,NULL,NULL,7,NULL,NULL,NULL),(33646,'NCBI Gene Summary',NULL,10253,NULL,'This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33647,'NCBI Gene PubMed Count',NULL,10253,NULL,NULL,NULL,10,NULL,NULL,NULL),(33648,'NCBI Gene PubMed Count',NULL,10254,NULL,NULL,NULL,1,NULL,NULL,NULL),(33649,'NCBI Gene PubMed Count',NULL,10255,NULL,NULL,NULL,128,NULL,NULL,NULL),(33650,'NCBI Gene PubMed Count',NULL,10256,NULL,NULL,NULL,13,NULL,NULL,NULL),(33651,'NCBI Gene PubMed Count',NULL,10257,NULL,NULL,NULL,8,NULL,NULL,NULL),(33652,'NCBI Gene PubMed Count',NULL,10258,NULL,NULL,NULL,3,NULL,NULL,NULL),(33653,'NCBI Gene Summary',NULL,10259,NULL,'This gene encodes a protein similar to a zebrafish protein which acts as a transcriptional repressor in and is required for somite segmentation in zebrafish embryos (PMID: 16326386). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(33654,'NCBI Gene PubMed Count',NULL,10259,NULL,NULL,NULL,6,NULL,NULL,NULL),(33655,'NCBI Gene Summary',NULL,10260,NULL,'This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(33656,'NCBI Gene PubMed Count',NULL,10260,NULL,NULL,NULL,129,NULL,NULL,NULL),(33657,'NCBI Gene Summary',NULL,10261,NULL,'This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(33658,'NCBI Gene PubMed Count',NULL,10261,NULL,NULL,NULL,21,NULL,NULL,NULL),(33659,'NCBI Gene PubMed Count',NULL,10262,NULL,NULL,NULL,5,NULL,NULL,NULL),(33660,'NCBI Gene PubMed Count',NULL,10263,NULL,NULL,NULL,14,NULL,NULL,NULL),(33661,'NCBI Gene Summary',NULL,10264,NULL,'RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(33662,'NCBI Gene PubMed Count',NULL,10264,NULL,NULL,NULL,19,NULL,NULL,NULL),(33663,'NCBI Gene PubMed Count',NULL,10265,NULL,NULL,NULL,8,NULL,NULL,NULL),(33664,'NCBI Gene Summary',NULL,10266,NULL,'This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(33665,'NCBI Gene PubMed Count',NULL,10266,NULL,NULL,NULL,15,NULL,NULL,NULL),(33666,'NCBI Gene PubMed Count',NULL,10267,NULL,NULL,NULL,6,NULL,NULL,NULL),(33667,'NCBI Gene PubMed Count',NULL,10268,NULL,NULL,NULL,13,NULL,NULL,NULL),(33668,'NCBI Gene Summary',NULL,10269,NULL,'Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33669,'NCBI Gene PubMed Count',NULL,10269,NULL,NULL,NULL,26,NULL,NULL,NULL),(33670,'NCBI Gene PubMed Count',NULL,10270,NULL,NULL,NULL,9,NULL,NULL,NULL),(33671,'NCBI Gene Summary',NULL,10271,NULL,'This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(33672,'NCBI Gene PubMed Count',NULL,10271,NULL,NULL,NULL,827,NULL,NULL,NULL),(33673,'NCBI Gene PubMed Count',NULL,10272,NULL,NULL,NULL,14,NULL,NULL,NULL),(33674,'NCBI Gene Summary',NULL,10273,NULL,'This gene encodes a member of the resistance to inhibitors of cholinesterase 3-like family which functions as a chaperone of specific 5-hydroxytryptamine type 3 receptor and nicotinic acetylcholine receptor subtypes. The encoded protein influences the folding and assembly of these receptor subunits in the endoplasmic reticulum and expression on the cell surface. This protein contains an N-terminal transmembrane domain, a proline-rich spacer, and a cytosolic C-terminal coiled-coil domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(33675,'NCBI Gene PubMed Count',NULL,10273,NULL,NULL,NULL,36,NULL,NULL,NULL),(33676,'NCBI Gene PubMed Count',NULL,10274,NULL,NULL,NULL,26,NULL,NULL,NULL),(33677,'NCBI Gene PubMed Count',NULL,10275,NULL,NULL,NULL,15,NULL,NULL,NULL),(33678,'NCBI Gene PubMed Count',NULL,10276,NULL,NULL,NULL,13,NULL,NULL,NULL),(33679,'NCBI Gene Summary',NULL,10277,NULL,'The protein encoded by this gene competes with pICln for inclusion in the protein arginine methyltransferase 5 complex. This complex targets substrates for dimethylation. The encoded protein is essential for the last steps in the maturation of 40S subunits. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(33680,'NCBI Gene PubMed Count',NULL,10277,NULL,NULL,NULL,15,NULL,NULL,NULL),(33681,'NCBI Gene Summary',NULL,10278,NULL,'This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(33682,'NCBI Gene PubMed Count',NULL,10278,NULL,NULL,NULL,29,NULL,NULL,NULL),(33683,'NCBI Gene Summary',NULL,10279,NULL,'This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(33684,'NCBI Gene PubMed Count',NULL,10279,NULL,NULL,NULL,37,NULL,NULL,NULL),(33685,'NCBI Gene Summary',NULL,10280,NULL,'The protein encoded by this gene is a small GTPase involved in diverse processes including angiogenesis, vascular homeostasis and regeneration, cell adhesion, and neuronal axon guidance. Mutations in this gene are found in many invasive cancers. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(33686,'NCBI Gene PubMed Count',NULL,10280,NULL,NULL,NULL,57,NULL,NULL,NULL),(33687,'NCBI Gene Summary',NULL,10281,NULL,'Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(33688,'NCBI Gene PubMed Count',NULL,10281,NULL,NULL,NULL,11,NULL,NULL,NULL),(33689,'NCBI Gene Summary',NULL,10282,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream C18orf32 (chromosome 18 open reading frame 32) gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(33690,'NCBI Gene PubMed Count',NULL,10282,NULL,NULL,NULL,17,NULL,NULL,NULL),(33691,'NCBI Gene Summary',NULL,10283,NULL,'This gene encodes a ribosome recycling factor, which is a component of the mitochondrial translational machinery. The encoded protein, along with mitochondrial elongation factor 2, functions in ribosomal recycling at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(33692,'NCBI Gene PubMed Count',NULL,10283,NULL,NULL,NULL,13,NULL,NULL,NULL),(33693,'NCBI Gene Summary',NULL,10284,NULL,'This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(33694,'NCBI Gene PubMed Count',NULL,10284,NULL,NULL,NULL,12,NULL,NULL,NULL),(33695,'NCBI Gene PubMed Count',NULL,10285,NULL,NULL,NULL,19,NULL,NULL,NULL),(33696,'NCBI Gene PubMed Count',NULL,10286,NULL,NULL,NULL,15,NULL,NULL,NULL),(33697,'NCBI Gene PubMed Count',NULL,10287,NULL,NULL,NULL,7,NULL,NULL,NULL),(33698,'NCBI Gene Summary',NULL,10288,NULL,'The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(33699,'NCBI Gene PubMed Count',NULL,10288,NULL,NULL,NULL,45,NULL,NULL,NULL),(33700,'NCBI Gene PubMed Count',NULL,10289,NULL,NULL,NULL,36,NULL,NULL,NULL),(33701,'NCBI Gene Summary',NULL,10290,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24E family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as ribosomal protein L30 because the encoded protein shares amino acid identity with the L30 ribosomal proteins from S. cerevisiae; however, its official name is ribosomal protein L24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33702,'NCBI Gene PubMed Count',NULL,10290,NULL,NULL,NULL,27,NULL,NULL,NULL),(33703,'NCBI Gene Summary',NULL,10291,NULL,'RAB24 is a small GTPase of the Rab subfamily of Ras-related proteins that regulate intracellular protein trafficking (Olkkonen et al., 1993 [PubMed 8126105]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(33704,'NCBI Gene PubMed Count',NULL,10291,NULL,NULL,NULL,13,NULL,NULL,NULL),(33705,'NCBI Gene PubMed Count',NULL,10292,NULL,NULL,NULL,14,NULL,NULL,NULL),(33706,'NCBI Gene PubMed Count',NULL,10293,NULL,NULL,NULL,18,NULL,NULL,NULL),(33707,'NCBI Gene Summary',NULL,10294,NULL,'The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(33708,'NCBI Gene PubMed Count',NULL,10294,NULL,NULL,NULL,44,NULL,NULL,NULL),(33709,'NCBI Gene PubMed Count',NULL,10295,NULL,NULL,NULL,13,NULL,NULL,NULL),(33710,'NCBI Gene PubMed Count',NULL,10296,NULL,NULL,NULL,38,NULL,NULL,NULL),(33711,'NCBI Gene Summary',NULL,10297,NULL,'Members of the SPEN (Split-end) family of proteins, including RBM15B, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(33712,'NCBI Gene PubMed Count',NULL,10297,NULL,NULL,NULL,15,NULL,NULL,NULL),(33713,'NCBI Gene Summary',NULL,10298,NULL,'This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33714,'NCBI Gene PubMed Count',NULL,10298,NULL,NULL,NULL,2181,NULL,NULL,NULL),(33715,'NCBI Gene PubMed Count',NULL,10299,NULL,NULL,NULL,7,NULL,NULL,NULL),(33716,'NCBI Gene Summary',NULL,10300,NULL,'The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(33717,'NCBI Gene PubMed Count',NULL,10300,NULL,NULL,NULL,28,NULL,NULL,NULL),(33718,'NCBI Gene Summary',NULL,10301,NULL,'This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(33719,'NCBI Gene PubMed Count',NULL,10301,NULL,NULL,NULL,22,NULL,NULL,NULL),(33720,'NCBI Gene Summary',NULL,10303,NULL,'This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33721,'NCBI Gene PubMed Count',NULL,10303,NULL,NULL,NULL,16,NULL,NULL,NULL),(33722,'NCBI Gene Summary',NULL,10304,NULL,'Renin catalyzes the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. Renin, an aspartyl protease, cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by angiotensin I converting enzyme, an important regulator of blood pressure and electrolyte balance. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause familial hyperproreninemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33723,'NCBI Gene PubMed Count',NULL,10304,NULL,NULL,NULL,244,NULL,NULL,NULL),(33724,'NCBI Gene Summary',NULL,10305,NULL,'This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(33725,'NCBI Gene PubMed Count',NULL,10305,NULL,NULL,NULL,119,NULL,NULL,NULL),(33726,'NCBI Gene PubMed Count',NULL,10306,NULL,NULL,NULL,10,NULL,NULL,NULL),(33727,'NCBI Gene Summary',NULL,10307,NULL,'The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33728,'NCBI Gene PubMed Count',NULL,10307,NULL,NULL,NULL,43,NULL,NULL,NULL),(33729,'NCBI Gene PubMed Count',NULL,10308,NULL,NULL,NULL,9,NULL,NULL,NULL),(33730,'NCBI Gene Summary',NULL,10309,NULL,'This gene encodes a single-stranded DNA-binding protein that is the 30-kDa subunit of the replication protein A complex. Replication protein A is an essential factor for DNA double-strand break repair and cell cycle checkpoint activation. The encoded protein localizes to DNA repair foci and may be involved in the cellular DNA damage response. This protein may also play a role in inhibiting viral replication.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(33731,'NCBI Gene PubMed Count',NULL,10309,NULL,NULL,NULL,14,NULL,NULL,NULL),(33732,'NCBI Gene Summary',NULL,10310,NULL,'The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5\' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(33733,'NCBI Gene PubMed Count',NULL,10310,NULL,NULL,NULL,84,NULL,NULL,NULL),(33734,'NCBI Gene PubMed Count',NULL,10311,NULL,NULL,NULL,17,NULL,NULL,NULL),(33735,'NCBI Gene PubMed Count',NULL,10312,NULL,NULL,NULL,11,NULL,NULL,NULL),(33736,'NCBI Gene Summary',NULL,10313,NULL,'This gene belongs to the Rab family of monomeric GTPases, which are involved in the control of cellular membrane traffic. The encoded protein plays a role in the targeted trafficking of integrins via its association with integrin alpha tails. As a consequence, the encoded protein is involved in the regulation of cell adhesion and migration. Expression of this gene is associated with a poor prognosis for glioma patients. This gene is downregulated by the tumor suppressor miR-200b, and miRNA-200b is itself downregulated in glioma tissues. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(33737,'NCBI Gene PubMed Count',NULL,10313,NULL,NULL,NULL,39,NULL,NULL,NULL),(33738,'NCBI Gene Summary',NULL,10314,NULL,'This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(33739,'NCBI Gene PubMed Count',NULL,10314,NULL,NULL,NULL,11,NULL,NULL,NULL),(33740,'NCBI Gene Summary',NULL,10315,NULL,'This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(33741,'NCBI Gene PubMed Count',NULL,10315,NULL,NULL,NULL,42,NULL,NULL,NULL),(33742,'NCBI Gene PubMed Count',NULL,10316,NULL,NULL,NULL,21,NULL,NULL,NULL),(33743,'NCBI Gene Summary',NULL,10317,NULL,'Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(33744,'NCBI Gene PubMed Count',NULL,10317,NULL,NULL,NULL,23,NULL,NULL,NULL),(33745,'NCBI Gene Summary',NULL,10318,NULL,'This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(33746,'NCBI Gene PubMed Count',NULL,10318,NULL,NULL,NULL,10,NULL,NULL,NULL),(33747,'NCBI Gene Summary',NULL,10320,NULL,'This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33748,'NCBI Gene PubMed Count',NULL,10320,NULL,NULL,NULL,68,NULL,NULL,NULL),(33749,'NCBI Gene PubMed Count',NULL,10321,NULL,NULL,NULL,63,NULL,NULL,NULL),(33750,'NCBI Gene Summary',NULL,10322,NULL,'This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(33751,'NCBI Gene PubMed Count',NULL,10322,NULL,NULL,NULL,22,NULL,NULL,NULL),(33752,'NCBI Gene Summary',NULL,10323,NULL,'The gene product inhibits renin activity by forming a dimer with renin, a complex known as high molecular weight renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The gene product can catalyze the interconversion of N-acetylglucosamine to N-acetylmannosamine, indicating that it is a GlcNAc 2-epimerase. Transcript variants utilizing alternative promoters have been described in the literature. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33753,'NCBI Gene PubMed Count',NULL,10323,NULL,NULL,NULL,30,NULL,NULL,NULL),(33754,'NCBI Gene PubMed Count',NULL,10324,NULL,NULL,NULL,6,NULL,NULL,NULL),(33755,'NCBI Gene Summary',NULL,10325,NULL,'The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33756,'NCBI Gene PubMed Count',NULL,10325,NULL,NULL,NULL,10,NULL,NULL,NULL),(33757,'NCBI Gene Summary',NULL,10326,NULL,'This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(33758,'NCBI Gene PubMed Count',NULL,10326,NULL,NULL,NULL,14,NULL,NULL,NULL),(33759,'NCBI Gene PubMed Count',NULL,10327,NULL,NULL,NULL,4,NULL,NULL,NULL),(33760,'NCBI Gene Summary',NULL,10328,NULL,'The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(33761,'NCBI Gene PubMed Count',NULL,10328,NULL,NULL,NULL,18,NULL,NULL,NULL),(33762,'NCBI Gene Summary',NULL,10329,NULL,'RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(33763,'NCBI Gene PubMed Count',NULL,10329,NULL,NULL,NULL,10,NULL,NULL,NULL),(33764,'NCBI Gene Summary',NULL,10330,NULL,'This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(33765,'NCBI Gene PubMed Count',NULL,10330,NULL,NULL,NULL,20,NULL,NULL,NULL),(33766,'NCBI Gene PubMed Count',NULL,10331,NULL,NULL,NULL,4,NULL,NULL,NULL),(33767,'NCBI Gene PubMed Count',NULL,10332,NULL,NULL,NULL,2,NULL,NULL,NULL),(33768,'NCBI Gene PubMed Count',NULL,10333,NULL,NULL,NULL,13,NULL,NULL,NULL),(33769,'NCBI Gene Summary',NULL,10334,NULL,'Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 10 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. This protein associates specifically with the activated forms of the two related G-protein subunits, G-alphai3 and G-alphaz but fails to interact with the structurally and functionally distinct G-alpha subunits. Regulator of G protein signaling 10 protein is localized in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33770,'NCBI Gene PubMed Count',NULL,10334,NULL,NULL,NULL,29,NULL,NULL,NULL),(33771,'NCBI Gene Summary',NULL,10335,NULL,'This gene encodes a subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The RPA complex protects single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which oligonucleotide/oligosaccharide-binding (OB) domains of the complex are utilized, and differing in the length of DNA bound. This subunit contains a single OB domain that participates in high-affinity DNA binding and also contains a winged helix domain at its carboxy terminus, which interacts with many genome maintenance protein. Post-translational modifications of the RPA complex also plays a role in co-ordinating different damage response pathways. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(33772,'NCBI Gene PubMed Count',NULL,10335,NULL,NULL,NULL,106,NULL,NULL,NULL),(33773,'NCBI Gene PubMed Count',NULL,10336,NULL,NULL,NULL,54,NULL,NULL,NULL),(33774,'NCBI Gene PubMed Count',NULL,10337,NULL,NULL,NULL,6,NULL,NULL,NULL),(33775,'NCBI Gene PubMed Count',NULL,10338,NULL,NULL,NULL,11,NULL,NULL,NULL),(33776,'NCBI Gene PubMed Count',NULL,10339,NULL,NULL,NULL,15,NULL,NULL,NULL),(33777,'NCBI Gene Summary',NULL,10340,NULL,'This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(33778,'NCBI Gene PubMed Count',NULL,10340,NULL,NULL,NULL,52,NULL,NULL,NULL),(33779,'NCBI Gene Summary',NULL,10341,NULL,'This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(33780,'NCBI Gene PubMed Count',NULL,10341,NULL,NULL,NULL,21,NULL,NULL,NULL),(33781,'NCBI Gene Summary',NULL,10342,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(33782,'NCBI Gene PubMed Count',NULL,10342,NULL,NULL,NULL,16,NULL,NULL,NULL),(33783,'NCBI Gene PubMed Count',NULL,10343,NULL,NULL,NULL,14,NULL,NULL,NULL),(33784,'NCBI Gene Summary',NULL,10344,NULL,'This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein facilitates translocation of a functional guanine nucleotide exchange factor (GEF) complex from the cytoplasm to the plasma membrane where ras-related C3 botulinum toxin substrate 1 is activated to promote lamellipodium formation and cell migration. Two related pseudogene have been identified on chromosomes 20 and X. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(33785,'NCBI Gene PubMed Count',NULL,10344,NULL,NULL,NULL,46,NULL,NULL,NULL),(33786,'NCBI Gene Summary',NULL,10345,NULL,'This gene is a member of the PEPP subfamily of paired-like homoebox genes. The gene may be regulated by androgens and epigenetic mechanisms. The encoded nuclear protein is likely a transcription factor that may play a role in human reproduction. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(33787,'NCBI Gene PubMed Count',NULL,10345,NULL,NULL,NULL,13,NULL,NULL,NULL),(33788,'NCBI Gene Summary',NULL,10346,NULL,'This gene, which encodes a transcriptional repressor, is one of two paralogous X-linked homeobox-containing genes and is highly expressed in a variety of cancers. In addition, the encoded protein associates with the cell membrane and with microtubules, and is concentrated at the leading edge of migratory cells. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(33789,'NCBI Gene PubMed Count',NULL,10346,NULL,NULL,NULL,19,NULL,NULL,NULL),(33790,'NCBI Gene PubMed Count',NULL,10347,NULL,NULL,NULL,8,NULL,NULL,NULL),(33791,'NCBI Gene PubMed Count',NULL,10348,NULL,NULL,NULL,22,NULL,NULL,NULL),(33792,'NCBI Gene Summary',NULL,10349,NULL,'This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(33793,'NCBI Gene PubMed Count',NULL,10349,NULL,NULL,NULL,32,NULL,NULL,NULL),(33794,'NCBI Gene PubMed Count',NULL,10350,NULL,NULL,NULL,10,NULL,NULL,NULL),(33795,'NCBI Gene Summary',NULL,10351,NULL,'The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(33796,'NCBI Gene PubMed Count',NULL,10351,NULL,NULL,NULL,30,NULL,NULL,NULL),(33797,'NCBI Gene PubMed Count',NULL,10352,NULL,NULL,NULL,11,NULL,NULL,NULL),(33798,'NCBI Gene Summary',NULL,10353,NULL,'The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(33799,'NCBI Gene PubMed Count',NULL,10353,NULL,NULL,NULL,16,NULL,NULL,NULL),(33800,'NCBI Gene Summary',NULL,10354,NULL,'This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(33801,'NCBI Gene PubMed Count',NULL,10354,NULL,NULL,NULL,29,NULL,NULL,NULL),(33802,'NCBI Gene PubMed Count',NULL,10355,NULL,NULL,NULL,15,NULL,NULL,NULL),(33803,'NCBI Gene Summary',NULL,10356,NULL,'This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. The mature protein also functions as an antimicrobial protein with antibacterial activity. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(33804,'NCBI Gene PubMed Count',NULL,10356,NULL,NULL,NULL,54,NULL,NULL,NULL),(33805,'NCBI Gene Summary',NULL,10357,NULL,'The protein encoded by this intronless gene interacts with GTP-bound Rab15 and is involved in recycling of transferrin receptor from the endocytic recycling compartment to the cell surface. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(33806,'NCBI Gene PubMed Count',NULL,10357,NULL,NULL,NULL,4,NULL,NULL,NULL),(33807,'NCBI Gene PubMed Count',NULL,10358,NULL,NULL,NULL,19,NULL,NULL,NULL),(33808,'NCBI Gene Summary',NULL,10359,NULL,'The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(33809,'NCBI Gene PubMed Count',NULL,10359,NULL,NULL,NULL,20,NULL,NULL,NULL),(33810,'NCBI Gene Summary',NULL,10360,NULL,'This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin\'s lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(33811,'NCBI Gene PubMed Count',NULL,10360,NULL,NULL,NULL,152,NULL,NULL,NULL),(33812,'NCBI Gene Summary',NULL,10361,NULL,'This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33813,'NCBI Gene PubMed Count',NULL,10361,NULL,NULL,NULL,79,NULL,NULL,NULL),(33814,'NCBI Gene Summary',NULL,10362,NULL,'This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(33815,'NCBI Gene PubMed Count',NULL,10362,NULL,NULL,NULL,534,NULL,NULL,NULL),(33816,'NCBI Gene Summary',NULL,10363,NULL,'This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(33817,'NCBI Gene PubMed Count',NULL,10363,NULL,NULL,NULL,41,NULL,NULL,NULL),(33818,'NCBI Gene PubMed Count',NULL,10364,NULL,NULL,NULL,39,NULL,NULL,NULL),(33819,'NCBI Gene Summary',NULL,10365,NULL,'This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33820,'NCBI Gene PubMed Count',NULL,10365,NULL,NULL,NULL,28,NULL,NULL,NULL),(33821,'NCBI Gene Summary',NULL,10366,NULL,'This gene encodes a member of the \'regulator of G protein signaling\' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33822,'NCBI Gene PubMed Count',NULL,10366,NULL,NULL,NULL,21,NULL,NULL,NULL),(33823,'NCBI Gene PubMed Count',NULL,10367,NULL,NULL,NULL,4,NULL,NULL,NULL),(33824,'NCBI Gene Summary',NULL,10368,NULL,'The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(33825,'NCBI Gene PubMed Count',NULL,10368,NULL,NULL,NULL,42,NULL,NULL,NULL),(33826,'NCBI Gene PubMed Count',NULL,10369,NULL,NULL,NULL,11,NULL,NULL,NULL),(33827,'NCBI Gene PubMed Count',NULL,10370,NULL,NULL,NULL,37,NULL,NULL,NULL),(33828,'NCBI Gene Summary',NULL,10371,NULL,'The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33829,'NCBI Gene PubMed Count',NULL,10371,NULL,NULL,NULL,88,NULL,NULL,NULL),(33830,'NCBI Gene PubMed Count',NULL,10372,NULL,NULL,NULL,25,NULL,NULL,NULL),(33831,'NCBI Gene PubMed Count',NULL,10373,NULL,NULL,NULL,11,NULL,NULL,NULL),(33832,'NCBI Gene PubMed Count',NULL,10374,NULL,NULL,NULL,30,NULL,NULL,NULL),(33833,'NCBI Gene Summary',NULL,10375,NULL,'This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(33834,'NCBI Gene PubMed Count',NULL,10375,NULL,NULL,NULL,36,NULL,NULL,NULL),(33835,'NCBI Gene Summary',NULL,10376,NULL,'This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(33836,'NCBI Gene PubMed Count',NULL,10376,NULL,NULL,NULL,16,NULL,NULL,NULL),(33837,'NCBI Gene Summary',NULL,10377,NULL,'This gene encodes a seven-transmembrane protein localized in the Golgi apparatus in mammalian cells. The encoded protein belongs to the progestin and adipoQ receptor (PAQR) family. This protein functions as a tumor suppressor by inhibiting the Raf/MEK/ERK signaling cascade. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(33838,'NCBI Gene PubMed Count',NULL,10377,NULL,NULL,NULL,36,NULL,NULL,NULL),(33839,'NCBI Gene Summary',NULL,10378,NULL,'This gene encodes a member of the protease-activated receptor (PAR) family which is a subfamily of the seven transmembrane G protein-coupled cell surface receptor family. The encoded protein acts as a cofactor in the thrombin-mediated cleavage and activation of the protease-activated receptor family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(33840,'NCBI Gene PubMed Count',NULL,10378,NULL,NULL,NULL,62,NULL,NULL,NULL),(33841,'NCBI Gene Summary',NULL,10379,NULL,'The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(33842,'NCBI Gene PubMed Count',NULL,10379,NULL,NULL,NULL,10,NULL,NULL,NULL),(33843,'NCBI Gene Summary',NULL,10380,NULL,'This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(33844,'NCBI Gene PubMed Count',NULL,10380,NULL,NULL,NULL,62,NULL,NULL,NULL),(33845,'NCBI Gene Summary',NULL,10381,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33846,'NCBI Gene PubMed Count',NULL,10381,NULL,NULL,NULL,8,NULL,NULL,NULL),(33847,'NCBI Gene Summary',NULL,10382,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33848,'NCBI Gene PubMed Count',NULL,10382,NULL,NULL,NULL,8,NULL,NULL,NULL),(33849,'NCBI Gene Summary',NULL,10383,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33850,'NCBI Gene PubMed Count',NULL,10383,NULL,NULL,NULL,9,NULL,NULL,NULL),(33851,'NCBI Gene Summary',NULL,10384,NULL,'The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(33852,'NCBI Gene PubMed Count',NULL,10384,NULL,NULL,NULL,12,NULL,NULL,NULL),(33853,'NCBI Gene Summary',NULL,10385,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33854,'NCBI Gene PubMed Count',NULL,10385,NULL,NULL,NULL,10,NULL,NULL,NULL),(33855,'NCBI Gene Summary',NULL,10386,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33856,'NCBI Gene PubMed Count',NULL,10386,NULL,NULL,NULL,8,NULL,NULL,NULL),(33857,'NCBI Gene Summary',NULL,10387,NULL,'This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(33858,'NCBI Gene PubMed Count',NULL,10387,NULL,NULL,NULL,107,NULL,NULL,NULL),(33859,'NCBI Gene PubMed Count',NULL,10388,NULL,NULL,NULL,8,NULL,NULL,NULL),(33860,'NCBI Gene Summary',NULL,10389,NULL,'This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(33861,'NCBI Gene PubMed Count',NULL,10389,NULL,NULL,NULL,113,NULL,NULL,NULL),(33862,'NCBI Gene PubMed Count',NULL,10390,NULL,NULL,NULL,22,NULL,NULL,NULL),(33863,'NCBI Gene Summary',NULL,10391,NULL,'The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(33864,'NCBI Gene PubMed Count',NULL,10391,NULL,NULL,NULL,25,NULL,NULL,NULL),(33865,'NCBI Gene Summary',NULL,10392,NULL,'This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein is reported to be a receptor for prostaglandin D2, which is a mediator of allergic inflammation and allergic airway inflammation in asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(33866,'NCBI Gene PubMed Count',NULL,10392,NULL,NULL,NULL,74,NULL,NULL,NULL),(33867,'NCBI Gene Summary',NULL,10393,NULL,'This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33868,'NCBI Gene PubMed Count',NULL,10393,NULL,NULL,NULL,107,NULL,NULL,NULL),(33869,'NCBI Gene PubMed Count',NULL,10394,NULL,NULL,NULL,10,NULL,NULL,NULL),(33870,'NCBI Gene Summary',NULL,10395,NULL,'This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(33871,'NCBI Gene PubMed Count',NULL,10395,NULL,NULL,NULL,87,NULL,NULL,NULL),(33872,'NCBI Gene Summary',NULL,10396,NULL,'This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. The N-terminal TRX-like domain is the primary binding site for the major ER chaperone calreticulin and possibly other proteins and substrates as well. Alternative splicing results in multiple protein- and non-protein-coding transcript variants. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(33873,'NCBI Gene PubMed Count',NULL,10396,NULL,NULL,NULL,17,NULL,NULL,NULL),(33874,'NCBI Gene Summary',NULL,10397,NULL,'This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(33875,'NCBI Gene PubMed Count',NULL,10397,NULL,NULL,NULL,46,NULL,NULL,NULL),(33876,'NCBI Gene Summary',NULL,10398,NULL,'This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33877,'NCBI Gene PubMed Count',NULL,10398,NULL,NULL,NULL,61,NULL,NULL,NULL),(33878,'NCBI Gene Summary',NULL,10399,NULL,'The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE7 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(33879,'NCBI Gene PubMed Count',NULL,10399,NULL,NULL,NULL,27,NULL,NULL,NULL),(33880,'NCBI Gene PubMed Count',NULL,10400,NULL,NULL,NULL,9,NULL,NULL,NULL),(33881,'NCBI Gene Summary',NULL,10401,NULL,'The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5\' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(33882,'NCBI Gene PubMed Count',NULL,10401,NULL,NULL,NULL,47,NULL,NULL,NULL),(33883,'NCBI Gene Summary',NULL,10402,NULL,'This gene encodes one of four mammalian counterparts to the fruit fly \'dunce\' gene. The encoded protein has 3\',5\'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(33884,'NCBI Gene PubMed Count',NULL,10402,NULL,NULL,NULL,199,NULL,NULL,NULL),(33885,'NCBI Gene Summary',NULL,10403,NULL,'The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33886,'NCBI Gene PubMed Count',NULL,10403,NULL,NULL,NULL,83,NULL,NULL,NULL),(33887,'NCBI Gene Summary',NULL,10404,NULL,'This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(33888,'NCBI Gene PubMed Count',NULL,10404,NULL,NULL,NULL,18,NULL,NULL,NULL),(33889,'NCBI Gene Summary',NULL,10405,NULL,'This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(33890,'NCBI Gene PubMed Count',NULL,10405,NULL,NULL,NULL,22,NULL,NULL,NULL),(33891,'NCBI Gene Summary',NULL,10406,NULL,'The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(33892,'NCBI Gene PubMed Count',NULL,10406,NULL,NULL,NULL,957,NULL,NULL,NULL),(33893,'NCBI Gene Summary',NULL,10407,NULL,'This gene encodes a member of the peroxidase family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Following its secretion from salivary, mammary, and other mucosal glands, this enzyme catalyzes the generation of the antimicrobial substance hypothiocyanous acid. This gene is present in a gene cluster on chromosome 17. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(33894,'NCBI Gene PubMed Count',NULL,10407,NULL,NULL,NULL,29,NULL,NULL,NULL),(33895,'NCBI Gene Summary',NULL,10408,NULL,'This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(33896,'NCBI Gene PubMed Count',NULL,10408,NULL,NULL,NULL,37,NULL,NULL,NULL),(33897,'NCBI Gene Summary',NULL,10409,NULL,'This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(33898,'NCBI Gene PubMed Count',NULL,10409,NULL,NULL,NULL,36,NULL,NULL,NULL),(33899,'NCBI Gene Summary',NULL,10410,NULL,'The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(33900,'NCBI Gene PubMed Count',NULL,10410,NULL,NULL,NULL,46,NULL,NULL,NULL),(33901,'NCBI Gene Summary',NULL,10411,NULL,'This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(33902,'NCBI Gene PubMed Count',NULL,10411,NULL,NULL,NULL,35,NULL,NULL,NULL),(33903,'NCBI Gene Summary',NULL,10412,NULL,'The protein encoded by this gene is a chemokine that is highly similar to platelet factor 4. The encoded protein displays a strong antiangiogenic function and is regulated by chemokine (C-X-C motif) receptor 3. This protein also impairs tumor growth and can protect against blood-retinal barrier breakdown in diabetes patients. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(33904,'NCBI Gene PubMed Count',NULL,10412,NULL,NULL,NULL,21,NULL,NULL,NULL),(33905,'NCBI Gene Summary',NULL,10413,NULL,'This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33906,'NCBI Gene PubMed Count',NULL,10413,NULL,NULL,NULL,17,NULL,NULL,NULL),(33907,'NCBI Gene Summary',NULL,10414,NULL,'Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(33908,'NCBI Gene PubMed Count',NULL,10414,NULL,NULL,NULL,15,NULL,NULL,NULL),(33909,'NCBI Gene Summary',NULL,10415,NULL,'This intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase family, a set of enzymes that catalyze the transfer of a phosphate group from 3-phosphoglycerate to 2-phosphoglycerate. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(33910,'NCBI Gene PubMed Count',NULL,10415,NULL,NULL,NULL,8,NULL,NULL,NULL),(33911,'NCBI Gene PubMed Count',NULL,10416,NULL,NULL,NULL,22,NULL,NULL,NULL),(33912,'NCBI Gene Summary',NULL,10417,NULL,'This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33913,'NCBI Gene PubMed Count',NULL,10417,NULL,NULL,NULL,8,NULL,NULL,NULL),(33914,'NCBI Gene PubMed Count',NULL,10418,NULL,NULL,NULL,13,NULL,NULL,NULL),(33915,'NCBI Gene Summary',NULL,10419,NULL,'The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(33916,'NCBI Gene PubMed Count',NULL,10419,NULL,NULL,NULL,9,NULL,NULL,NULL),(33917,'NCBI Gene Summary',NULL,10420,NULL,'NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(33918,'NCBI Gene PubMed Count',NULL,10420,NULL,NULL,NULL,13,NULL,NULL,NULL),(33919,'NCBI Gene PubMed Count',NULL,10421,NULL,NULL,NULL,63,NULL,NULL,NULL),(33920,'NCBI Gene Summary',NULL,10422,NULL,'The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(33921,'NCBI Gene PubMed Count',NULL,10422,NULL,NULL,NULL,27,NULL,NULL,NULL),(33922,'NCBI Gene PubMed Count',NULL,10423,NULL,NULL,NULL,18,NULL,NULL,NULL),(33923,'NCBI Gene Summary',NULL,10424,NULL,'This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(33924,'NCBI Gene PubMed Count',NULL,10424,NULL,NULL,NULL,30,NULL,NULL,NULL),(33925,'NCBI Gene PubMed Count',NULL,10425,NULL,NULL,NULL,3,NULL,NULL,NULL),(33926,'NCBI Gene PubMed Count',NULL,10426,NULL,NULL,NULL,2,NULL,NULL,NULL),(33927,'NCBI Gene Summary',NULL,10427,NULL,'This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33928,'NCBI Gene PubMed Count',NULL,10427,NULL,NULL,NULL,20,NULL,NULL,NULL),(33929,'NCBI Gene Summary',NULL,10428,NULL,'This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(33930,'NCBI Gene PubMed Count',NULL,10428,NULL,NULL,NULL,26,NULL,NULL,NULL),(33931,'NCBI Gene PubMed Count',NULL,10429,NULL,NULL,NULL,7,NULL,NULL,NULL),(33932,'NCBI Gene Summary',NULL,10430,NULL,'This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(33933,'NCBI Gene PubMed Count',NULL,10430,NULL,NULL,NULL,81,NULL,NULL,NULL),(33934,'NCBI Gene Summary',NULL,10431,NULL,'This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33935,'NCBI Gene PubMed Count',NULL,10431,NULL,NULL,NULL,143,NULL,NULL,NULL),(33936,'NCBI Gene Summary',NULL,10432,NULL,'This gene is a member of family of proteins that are expressed in a variety of tumors and in some fetal and reproductive tissues. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(33937,'NCBI Gene PubMed Count',NULL,10432,NULL,NULL,NULL,5,NULL,NULL,NULL),(33938,'NCBI Gene Summary',NULL,10433,NULL,'This gene is a member of the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in prostate and prostate cancer. It is also expressed in other male and female reproductive tissues including testis, fallopian tube, uterus, and placenta, as well as in testicular cancer and uterine cancer. The protein encoded by this gene shares sequence similarity with other GAGE/PAGE proteins, and also belongs to a family of CT (cancer-testis) antigens. The protein may play a role in benign and malignant prostate diseases. A related pseudogene is located on chromosome 7. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(33939,'NCBI Gene PubMed Count',NULL,10433,NULL,NULL,NULL,13,NULL,NULL,NULL),(33940,'NCBI Gene Summary',NULL,10434,NULL,'Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(33941,'NCBI Gene PubMed Count',NULL,10434,NULL,NULL,NULL,32,NULL,NULL,NULL),(33942,'NCBI Gene PubMed Count',NULL,10435,NULL,NULL,NULL,9,NULL,NULL,NULL),(33943,'NCBI Gene PubMed Count',NULL,10436,NULL,NULL,NULL,11,NULL,NULL,NULL),(33944,'NCBI Gene Summary',NULL,10437,NULL,'The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33945,'NCBI Gene PubMed Count',NULL,10437,NULL,NULL,NULL,28,NULL,NULL,NULL),(33946,'NCBI Gene PubMed Count',NULL,10438,NULL,NULL,NULL,14,NULL,NULL,NULL),(33947,'NCBI Gene Summary',NULL,10439,NULL,'This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter\'s anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]',NULL,NULL,NULL,NULL,NULL),(33948,'NCBI Gene PubMed Count',NULL,10439,NULL,NULL,NULL,317,NULL,NULL,NULL),(33949,'NCBI Gene Summary',NULL,10440,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33950,'NCBI Gene PubMed Count',NULL,10440,NULL,NULL,NULL,12,NULL,NULL,NULL),(33951,'NCBI Gene Summary',NULL,10441,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33952,'NCBI Gene PubMed Count',NULL,10441,NULL,NULL,NULL,8,NULL,NULL,NULL),(33953,'NCBI Gene Summary',NULL,10442,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33954,'NCBI Gene PubMed Count',NULL,10442,NULL,NULL,NULL,12,NULL,NULL,NULL),(33955,'NCBI Gene Summary',NULL,10443,NULL,'This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(33956,'NCBI Gene PubMed Count',NULL,10443,NULL,NULL,NULL,209,NULL,NULL,NULL),(33957,'NCBI Gene PubMed Count',NULL,10444,NULL,NULL,NULL,14,NULL,NULL,NULL),(33958,'NCBI Gene Summary',NULL,10445,NULL,'This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33959,'NCBI Gene PubMed Count',NULL,10445,NULL,NULL,NULL,207,NULL,NULL,NULL),(33960,'NCBI Gene Summary',NULL,10446,NULL,'This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33961,'NCBI Gene PubMed Count',NULL,10446,NULL,NULL,NULL,29,NULL,NULL,NULL),(33962,'NCBI Gene Summary',NULL,10447,NULL,'This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33963,'NCBI Gene PubMed Count',NULL,10447,NULL,NULL,NULL,15,NULL,NULL,NULL),(33964,'NCBI Gene Summary',NULL,10448,NULL,'This intronless gene encodes a protein of unknown function. Its expression is up-regulated in some types of cancer, including prostate, breast, and bladder cancer. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(33965,'NCBI Gene PubMed Count',NULL,10448,NULL,NULL,NULL,12,NULL,NULL,NULL),(33966,'NCBI Gene Summary',NULL,10449,NULL,'This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(33967,'NCBI Gene PubMed Count',NULL,10449,NULL,NULL,NULL,21,NULL,NULL,NULL),(33968,'NCBI Gene Summary',NULL,10450,NULL,'The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33969,'NCBI Gene PubMed Count',NULL,10450,NULL,NULL,NULL,46,NULL,NULL,NULL),(33970,'NCBI Gene Summary',NULL,10451,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33971,'NCBI Gene PubMed Count',NULL,10451,NULL,NULL,NULL,11,NULL,NULL,NULL),(33972,'NCBI Gene Summary',NULL,10452,NULL,'This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33973,'NCBI Gene PubMed Count',NULL,10452,NULL,NULL,NULL,16,NULL,NULL,NULL),(33974,'NCBI Gene PubMed Count',NULL,10453,NULL,NULL,NULL,5,NULL,NULL,NULL),(33975,'NCBI Gene Summary',NULL,10454,NULL,'This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(33976,'NCBI Gene PubMed Count',NULL,10454,NULL,NULL,NULL,155,NULL,NULL,NULL),(33977,'NCBI Gene PubMed Count',NULL,10455,NULL,NULL,NULL,93,NULL,NULL,NULL),(33978,'NCBI Gene PubMed Count',NULL,10456,NULL,NULL,NULL,12,NULL,NULL,NULL),(33979,'NCBI Gene Summary',NULL,10457,NULL,'This gene encodes a nuclear protein expressed in a variety of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on this protein. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(33980,'NCBI Gene PubMed Count',NULL,10457,NULL,NULL,NULL,26,NULL,NULL,NULL),(33981,'NCBI Gene Summary',NULL,10458,NULL,'This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(33982,'NCBI Gene PubMed Count',NULL,10458,NULL,NULL,NULL,21,NULL,NULL,NULL),(33983,'NCBI Gene Summary',NULL,10459,NULL,'The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33984,'NCBI Gene PubMed Count',NULL,10459,NULL,NULL,NULL,27,NULL,NULL,NULL),(33985,'NCBI Gene Summary',NULL,10460,NULL,'This gene encodes a 59 kDa protein that is associated with the U11 small nuclear ribonucleoprotein (snRNP), which is a component of the minor U12-type spliceosome responsible for catalyzing pre-mRNA splicing of U12-type introns. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(33986,'NCBI Gene PubMed Count',NULL,10460,NULL,NULL,NULL,11,NULL,NULL,NULL),(33987,'NCBI Gene Summary',NULL,10461,NULL,'This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(33988,'NCBI Gene PubMed Count',NULL,10461,NULL,NULL,NULL,57,NULL,NULL,NULL),(33989,'NCBI Gene Summary',NULL,10462,NULL,'This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33990,'NCBI Gene PubMed Count',NULL,10462,NULL,NULL,NULL,11,NULL,NULL,NULL),(33991,'NCBI Gene Summary',NULL,10463,NULL,'The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(33992,'NCBI Gene PubMed Count',NULL,10463,NULL,NULL,NULL,24,NULL,NULL,NULL),(33993,'NCBI Gene Summary',NULL,10464,NULL,'This gene encodes a member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttling protein, which facilitates RA binding to its cognate receptor complex and transfer to the nucleus. It is involved in the retinoid signaling pathway, and is associated with increased circulating low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(33994,'NCBI Gene PubMed Count',NULL,10464,NULL,NULL,NULL,71,NULL,NULL,NULL),(33995,'NCBI Gene Summary',NULL,10465,NULL,'This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33996,'NCBI Gene PubMed Count',NULL,10465,NULL,NULL,NULL,80,NULL,NULL,NULL),(33997,'NCBI Gene Summary',NULL,10466,NULL,'The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(33998,'NCBI Gene PubMed Count',NULL,10466,NULL,NULL,NULL,3,NULL,NULL,NULL),(33999,'NCBI Gene Summary',NULL,10467,NULL,'The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(34000,'NCBI Gene PubMed Count',NULL,10467,NULL,NULL,NULL,7,NULL,NULL,NULL),(34001,'NCBI Gene Summary',NULL,10468,NULL,'This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(34002,'NCBI Gene PubMed Count',NULL,10468,NULL,NULL,NULL,144,NULL,NULL,NULL),(34003,'NCBI Gene Summary',NULL,10469,NULL,'This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(34004,'NCBI Gene PubMed Count',NULL,10469,NULL,NULL,NULL,47,NULL,NULL,NULL),(34005,'NCBI Gene Summary',NULL,10470,NULL,'The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34006,'NCBI Gene PubMed Count',NULL,10470,NULL,NULL,NULL,163,NULL,NULL,NULL),(34007,'NCBI Gene Summary',NULL,10471,NULL,'The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34008,'NCBI Gene PubMed Count',NULL,10471,NULL,NULL,NULL,42,NULL,NULL,NULL),(34009,'NCBI Gene Summary',NULL,10472,NULL,'The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(34010,'NCBI Gene PubMed Count',NULL,10472,NULL,NULL,NULL,13,NULL,NULL,NULL),(34011,'NCBI Gene Summary',NULL,10473,NULL,'This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34012,'NCBI Gene PubMed Count',NULL,10473,NULL,NULL,NULL,138,NULL,NULL,NULL),(34013,'NCBI Gene PubMed Count',NULL,10474,NULL,NULL,NULL,20,NULL,NULL,NULL),(34014,'NCBI Gene Summary',NULL,10475,NULL,'The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(34015,'NCBI Gene PubMed Count',NULL,10475,NULL,NULL,NULL,426,NULL,NULL,NULL),(34016,'NCBI Gene Summary',NULL,10476,NULL,'This gene encodes a GTP-binding protein that belongs to the small GTPase superfamily and Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34017,'NCBI Gene PubMed Count',NULL,10476,NULL,NULL,NULL,50,NULL,NULL,NULL),(34018,'NCBI Gene PubMed Count',NULL,10477,NULL,NULL,NULL,7,NULL,NULL,NULL),(34019,'NCBI Gene Summary',NULL,10478,NULL,'This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(34020,'NCBI Gene PubMed Count',NULL,10478,NULL,NULL,NULL,25,NULL,NULL,NULL),(34021,'NCBI Gene Summary',NULL,10479,NULL,'This is one of two genes encoding similar enzymes that catalyze the conversion of arachinodate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. The protein may promote cell proliferation during tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(34022,'NCBI Gene PubMed Count',NULL,10479,NULL,NULL,NULL,246,NULL,NULL,NULL),(34023,'NCBI Gene Summary',NULL,10480,NULL,'The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) protein, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34024,'NCBI Gene PubMed Count',NULL,10480,NULL,NULL,NULL,50,NULL,NULL,NULL),(34025,'NCBI Gene PubMed Count',NULL,10481,NULL,NULL,NULL,16,NULL,NULL,NULL),(34026,'NCBI Gene Summary',NULL,10482,NULL,'Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(34027,'NCBI Gene PubMed Count',NULL,10482,NULL,NULL,NULL,11,NULL,NULL,NULL),(34028,'NCBI Gene Summary',NULL,10483,NULL,'This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34029,'NCBI Gene PubMed Count',NULL,10483,NULL,NULL,NULL,18,NULL,NULL,NULL),(34030,'NCBI Gene Summary',NULL,10484,NULL,'Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34031,'NCBI Gene PubMed Count',NULL,10484,NULL,NULL,NULL,57,NULL,NULL,NULL),(34032,'NCBI Gene PubMed Count',NULL,10485,NULL,NULL,NULL,47,NULL,NULL,NULL),(34033,'NCBI Gene Summary',NULL,10486,NULL,'Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34034,'NCBI Gene PubMed Count',NULL,10486,NULL,NULL,NULL,25,NULL,NULL,NULL),(34035,'NCBI Gene Summary',NULL,10487,NULL,'The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(34036,'NCBI Gene PubMed Count',NULL,10487,NULL,NULL,NULL,16,NULL,NULL,NULL),(34037,'NCBI Gene Summary',NULL,10488,NULL,'Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(34038,'NCBI Gene PubMed Count',NULL,10488,NULL,NULL,NULL,364,NULL,NULL,NULL),(34039,'NCBI Gene Summary',NULL,10489,NULL,'This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathway. The encoded protein plays a role in bone formation, inflammation, wound healing and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and growth in various human cancers. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(34040,'NCBI Gene PubMed Count',NULL,10489,NULL,NULL,NULL,228,NULL,NULL,NULL),(34041,'NCBI Gene Summary',NULL,10490,NULL,'This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34042,'NCBI Gene PubMed Count',NULL,10490,NULL,NULL,NULL,11,NULL,NULL,NULL),(34043,'NCBI Gene PubMed Count',NULL,10491,NULL,NULL,NULL,14,NULL,NULL,NULL),(34044,'NCBI Gene PubMed Count',NULL,10492,NULL,NULL,NULL,21,NULL,NULL,NULL),(34045,'NCBI Gene Summary',NULL,10493,NULL,'Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(34046,'NCBI Gene PubMed Count',NULL,10493,NULL,NULL,NULL,20,NULL,NULL,NULL),(34047,'NCBI Gene Summary',NULL,10494,NULL,'This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34048,'NCBI Gene PubMed Count',NULL,10494,NULL,NULL,NULL,28,NULL,NULL,NULL),(34049,'NCBI Gene Summary',NULL,10495,NULL,'This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34050,'NCBI Gene PubMed Count',NULL,10495,NULL,NULL,NULL,34,NULL,NULL,NULL),(34051,'NCBI Gene PubMed Count',NULL,10496,NULL,NULL,NULL,4,NULL,NULL,NULL),(34052,'NCBI Gene Summary',NULL,10497,NULL,'This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(34053,'NCBI Gene PubMed Count',NULL,10497,NULL,NULL,NULL,51,NULL,NULL,NULL),(34054,'NCBI Gene Summary',NULL,10498,NULL,'The protein encoded by this gene is a 3\'-exoribonuclease, with similarity to the RNase D family of 3\'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(34055,'NCBI Gene PubMed Count',NULL,10498,NULL,NULL,NULL,66,NULL,NULL,NULL),(34056,'NCBI Gene PubMed Count',NULL,10499,NULL,NULL,NULL,11,NULL,NULL,NULL),(34057,'NCBI Gene Summary',NULL,10500,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34058,'NCBI Gene PubMed Count',NULL,10500,NULL,NULL,NULL,12,NULL,NULL,NULL),(34059,'NCBI Gene Summary',NULL,10501,NULL,'This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(34060,'NCBI Gene PubMed Count',NULL,10501,NULL,NULL,NULL,69,NULL,NULL,NULL),(34061,'NCBI Gene Summary',NULL,10502,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34062,'NCBI Gene PubMed Count',NULL,10502,NULL,NULL,NULL,14,NULL,NULL,NULL),(34063,'NCBI Gene Summary',NULL,10503,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34064,'NCBI Gene PubMed Count',NULL,10503,NULL,NULL,NULL,9,NULL,NULL,NULL),(34065,'NCBI Gene Summary',NULL,10504,NULL,'This gene encodes a member of the peptidase S28 family of serine exopeptidases. The encoded preproprotein is proteolytically processed to generate the mature lysosomal prolylcarboxypeptidase. This enzyme cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. A pseudogene of this gene has been identified on chromosome 2. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(34066,'NCBI Gene PubMed Count',NULL,10504,NULL,NULL,NULL,34,NULL,NULL,NULL),(34067,'NCBI Gene Summary',NULL,10505,NULL,'This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(34068,'NCBI Gene PubMed Count',NULL,10505,NULL,NULL,NULL,76,NULL,NULL,NULL),(34069,'NCBI Gene Summary',NULL,10506,NULL,'The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(34070,'NCBI Gene PubMed Count',NULL,10506,NULL,NULL,NULL,36,NULL,NULL,NULL),(34071,'NCBI Gene PubMed Count',NULL,10507,NULL,NULL,NULL,0,NULL,NULL,NULL),(34072,'NCBI Gene Summary',NULL,10508,NULL,'The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34073,'NCBI Gene PubMed Count',NULL,10508,NULL,NULL,NULL,30,NULL,NULL,NULL),(34074,'NCBI Gene Summary',NULL,10509,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34075,'NCBI Gene PubMed Count',NULL,10509,NULL,NULL,NULL,11,NULL,NULL,NULL),(34076,'NCBI Gene Summary',NULL,10510,NULL,'This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes multiple cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(34077,'NCBI Gene PubMed Count',NULL,10510,NULL,NULL,NULL,24,NULL,NULL,NULL),(34078,'NCBI Gene Summary',NULL,10511,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3\' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(34079,'NCBI Gene PubMed Count',NULL,10511,NULL,NULL,NULL,9,NULL,NULL,NULL),(34080,'NCBI Gene Summary',NULL,10512,NULL,'This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(34081,'NCBI Gene PubMed Count',NULL,10512,NULL,NULL,NULL,35,NULL,NULL,NULL),(34082,'NCBI Gene Summary',NULL,10513,NULL,'This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(34083,'NCBI Gene PubMed Count',NULL,10513,NULL,NULL,NULL,63,NULL,NULL,NULL),(34084,'NCBI Gene Summary',NULL,10514,NULL,'This gene encodes a G-protein-coupled receptor that is preferentially expressed in CD4+ effector T helper 2 (Th2) cells. This protein is a prostaglandin D2 receptor that mediates the pro-inflammatory chemotaxis of eosinophils, basophils, and Th2 lymphocytes generated during allergic inflammation. Single nucleotide polymorphisms in the 3\' UTR of this gene have been associated with asthma susceptibility.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(34085,'NCBI Gene PubMed Count',NULL,10514,NULL,NULL,NULL,68,NULL,NULL,NULL),(34086,'NCBI Gene Summary',NULL,10515,NULL,'This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5\'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34087,'NCBI Gene PubMed Count',NULL,10515,NULL,NULL,NULL,87,NULL,NULL,NULL),(34088,'NCBI Gene Summary',NULL,10516,NULL,'This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34089,'NCBI Gene PubMed Count',NULL,10516,NULL,NULL,NULL,30,NULL,NULL,NULL),(34090,'NCBI Gene Summary',NULL,10517,NULL,'This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. This protein also functions as a molecular chaperone that prevents the formation of protein aggregates. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(34091,'NCBI Gene PubMed Count',NULL,10517,NULL,NULL,NULL,154,NULL,NULL,NULL),(34092,'NCBI Gene Summary',NULL,10518,NULL,'This gene encodes a protein that is upregulated during apoptosis where it translocates rapidly from the cytoplasm to the nucleus. The encoded protein may be an important regulator of K(lysine) acetyltransferase 5 (a protein involved in transcription, DNA damage response and cell cycle control) by inhibiting its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(34093,'NCBI Gene PubMed Count',NULL,10518,NULL,NULL,NULL,77,NULL,NULL,NULL),(34094,'NCBI Gene Summary',NULL,10519,NULL,'Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(34095,'NCBI Gene PubMed Count',NULL,10519,NULL,NULL,NULL,55,NULL,NULL,NULL),(34096,'NCBI Gene Summary',NULL,10520,NULL,'This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(34097,'NCBI Gene PubMed Count',NULL,10520,NULL,NULL,NULL,32,NULL,NULL,NULL),(34098,'NCBI Gene Summary',NULL,10521,NULL,'The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(34099,'NCBI Gene PubMed Count',NULL,10521,NULL,NULL,NULL,24,NULL,NULL,NULL),(34100,'NCBI Gene Summary',NULL,10522,NULL,'The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(34101,'NCBI Gene PubMed Count',NULL,10522,NULL,NULL,NULL,56,NULL,NULL,NULL),(34102,'NCBI Gene Summary',NULL,10523,NULL,'The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34103,'NCBI Gene PubMed Count',NULL,10523,NULL,NULL,NULL,63,NULL,NULL,NULL),(34104,'NCBI Gene Summary',NULL,10524,NULL,'This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(34105,'NCBI Gene PubMed Count',NULL,10524,NULL,NULL,NULL,30,NULL,NULL,NULL),(34106,'NCBI Gene Summary',NULL,10525,NULL,'This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(34107,'NCBI Gene PubMed Count',NULL,10525,NULL,NULL,NULL,28,NULL,NULL,NULL),(34108,'NCBI Gene Summary',NULL,10526,NULL,'The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(34109,'NCBI Gene PubMed Count',NULL,10526,NULL,NULL,NULL,19,NULL,NULL,NULL),(34110,'NCBI Gene Summary',NULL,10527,NULL,'The protein encoded by this gene is a preproprotein that is proteolytically processed to form the secreted opioid peptides beta-neoendorphin, dynorphin, leu-enkephalin, rimorphin, and leumorphin. These peptides are ligands for the kappa-type of opioid receptor. Dynorphin is involved in modulating responses to several psychoactive substances, including cocaine. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(34111,'NCBI Gene PubMed Count',NULL,10527,NULL,NULL,NULL,94,NULL,NULL,NULL),(34112,'NCBI Gene Summary',NULL,10528,NULL,'The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor\'s activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34113,'NCBI Gene PubMed Count',NULL,10528,NULL,NULL,NULL,54,NULL,NULL,NULL),(34114,'NCBI Gene Summary',NULL,10529,NULL,'The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(34115,'NCBI Gene PubMed Count',NULL,10529,NULL,NULL,NULL,11,NULL,NULL,NULL),(34116,'NCBI Gene Summary',NULL,10530,NULL,'This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(34117,'NCBI Gene PubMed Count',NULL,10530,NULL,NULL,NULL,70,NULL,NULL,NULL),(34118,'NCBI Gene Summary',NULL,10531,NULL,'This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(34119,'NCBI Gene PubMed Count',NULL,10531,NULL,NULL,NULL,74,NULL,NULL,NULL),(34120,'NCBI Gene Summary',NULL,10532,NULL,'This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(34121,'NCBI Gene PubMed Count',NULL,10532,NULL,NULL,NULL,23,NULL,NULL,NULL),(34122,'NCBI Gene Summary',NULL,10533,NULL,'The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(34123,'NCBI Gene PubMed Count',NULL,10533,NULL,NULL,NULL,17,NULL,NULL,NULL),(34124,'NCBI Gene Summary',NULL,10534,NULL,'The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34125,'NCBI Gene PubMed Count',NULL,10534,NULL,NULL,NULL,3,NULL,NULL,NULL),(34126,'NCBI Gene Summary',NULL,10535,NULL,'The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(34127,'NCBI Gene PubMed Count',NULL,10535,NULL,NULL,NULL,38,NULL,NULL,NULL),(34128,'NCBI Gene Summary',NULL,10536,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34129,'NCBI Gene PubMed Count',NULL,10536,NULL,NULL,NULL,10,NULL,NULL,NULL),(34130,'NCBI Gene Summary',NULL,10537,NULL,'This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c  background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34131,'NCBI Gene PubMed Count',NULL,10537,NULL,NULL,NULL,673,NULL,NULL,NULL),(34132,'NCBI Gene PubMed Count',NULL,10538,NULL,NULL,NULL,37,NULL,NULL,NULL),(34133,'NCBI Gene Summary',NULL,10539,NULL,'This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(34134,'NCBI Gene PubMed Count',NULL,10539,NULL,NULL,NULL,160,NULL,NULL,NULL),(34135,'NCBI Gene Summary',NULL,10540,NULL,'The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(34136,'NCBI Gene PubMed Count',NULL,10540,NULL,NULL,NULL,63,NULL,NULL,NULL),(34137,'NCBI Gene Summary',NULL,10541,NULL,'This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(34138,'NCBI Gene PubMed Count',NULL,10541,NULL,NULL,NULL,87,NULL,NULL,NULL),(34139,'NCBI Gene Summary',NULL,10542,NULL,'This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(34140,'NCBI Gene PubMed Count',NULL,10542,NULL,NULL,NULL,311,NULL,NULL,NULL),(34141,'NCBI Gene PubMed Count',NULL,10543,NULL,NULL,NULL,2,NULL,NULL,NULL),(34142,'NCBI Gene Summary',NULL,10544,NULL,'This gene encodes a death effector domain-containing protein that functions as a negative regulator of apoptosis. The encoded protein is an endogenous substrate for protein kinase C. This protein is also overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(34143,'NCBI Gene PubMed Count',NULL,10544,NULL,NULL,NULL,81,NULL,NULL,NULL),(34144,'NCBI Gene Summary',NULL,10545,NULL,'This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(34145,'NCBI Gene PubMed Count',NULL,10545,NULL,NULL,NULL,26,NULL,NULL,NULL),(34146,'NCBI Gene Summary',NULL,10546,NULL,'In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5\' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5\' exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(34147,'NCBI Gene PubMed Count',NULL,10546,NULL,NULL,NULL,30,NULL,NULL,NULL),(34148,'NCBI Gene PubMed Count',NULL,10547,NULL,NULL,NULL,37,NULL,NULL,NULL),(34149,'NCBI Gene Summary',NULL,10548,NULL,'This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(34150,'NCBI Gene PubMed Count',NULL,10548,NULL,NULL,NULL,128,NULL,NULL,NULL),(34151,'NCBI Gene PubMed Count',NULL,10549,NULL,NULL,NULL,33,NULL,NULL,NULL),(34152,'NCBI Gene Summary',NULL,10550,NULL,'The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. The encoded protein functions as a chaperone protein, and may play a role in the transport of the Von Hippel-Lindau protein from the perinuclear granules to the nucleus or cytoplasm. Alternative splicing and the use of alternate transcription start sites results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(34153,'NCBI Gene PubMed Count',NULL,10550,NULL,NULL,NULL,19,NULL,NULL,NULL),(34154,'NCBI Gene Summary',NULL,10551,NULL,'This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(34155,'NCBI Gene PubMed Count',NULL,10551,NULL,NULL,NULL,38,NULL,NULL,NULL),(34156,'NCBI Gene Summary',NULL,10552,NULL,'This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(34157,'NCBI Gene PubMed Count',NULL,10552,NULL,NULL,NULL,218,NULL,NULL,NULL),(34158,'NCBI Gene PubMed Count',NULL,10553,NULL,NULL,NULL,10,NULL,NULL,NULL),(34159,'NCBI Gene Summary',NULL,10554,NULL,'This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(34160,'NCBI Gene PubMed Count',NULL,10554,NULL,NULL,NULL,25,NULL,NULL,NULL),(34161,'NCBI Gene PubMed Count',NULL,10555,NULL,NULL,NULL,0,NULL,NULL,NULL),(34162,'NCBI Gene Summary',NULL,10556,NULL,'This gene is a member of the CD34 family of cell surface transmembrane proteins, which are characterized by an N-terminal extracellular mucin domain, globular and stalk domains, a single pass transmembrane region, and a charged cytoplasmic tail. The encoded protein is a ligand for vascular selectins. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(34163,'NCBI Gene PubMed Count',NULL,10556,NULL,NULL,NULL,12,NULL,NULL,NULL),(34164,'NCBI Gene Summary',NULL,10557,NULL,'This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(34165,'NCBI Gene PubMed Count',NULL,10557,NULL,NULL,NULL,101,NULL,NULL,NULL),(34166,'NCBI Gene Summary',NULL,10558,NULL,'This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(34167,'NCBI Gene PubMed Count',NULL,10558,NULL,NULL,NULL,158,NULL,NULL,NULL),(34168,'NCBI Gene PubMed Count',NULL,10559,NULL,NULL,NULL,245,NULL,NULL,NULL),(34169,'NCBI Gene Summary',NULL,10560,NULL,'The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif.  Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34170,'NCBI Gene PubMed Count',NULL,10560,NULL,NULL,NULL,82,NULL,NULL,NULL),(34171,'NCBI Gene Summary',NULL,10561,NULL,'This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(34172,'NCBI Gene PubMed Count',NULL,10561,NULL,NULL,NULL,58,NULL,NULL,NULL),(34173,'NCBI Gene Summary',NULL,10562,NULL,'The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34174,'NCBI Gene PubMed Count',NULL,10562,NULL,NULL,NULL,89,NULL,NULL,NULL),(34175,'NCBI Gene Summary',NULL,10563,NULL,'This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34176,'NCBI Gene PubMed Count',NULL,10563,NULL,NULL,NULL,23,NULL,NULL,NULL),(34177,'NCBI Gene Summary',NULL,10564,NULL,'The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34178,'NCBI Gene PubMed Count',NULL,10564,NULL,NULL,NULL,29,NULL,NULL,NULL),(34179,'NCBI Gene Summary',NULL,10565,NULL,'This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(34180,'NCBI Gene PubMed Count',NULL,10565,NULL,NULL,NULL,24,NULL,NULL,NULL),(34181,'NCBI Gene Summary',NULL,10566,NULL,'The protein encoded by this gene is member of the G-protein coupled receptor family. This protein is a receptor for prostaglandin F2-alpha (PGF2-alpha), which is known to be a potent luteolytic agent, and may also be involved in modulating intraocular pressure and smooth muscle contraction in uterus. Knockout studies in mice suggest that the interaction of PGF2-alpha with this receptor may initiate parturition in ovarian luteal cells and thus induce luteolysis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34182,'NCBI Gene PubMed Count',NULL,10566,NULL,NULL,NULL,71,NULL,NULL,NULL),(34183,'NCBI Gene Summary',NULL,10567,NULL,'This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34184,'NCBI Gene PubMed Count',NULL,10567,NULL,NULL,NULL,20,NULL,NULL,NULL),(34185,'NCBI Gene Summary',NULL,10568,NULL,'This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair. This protein possesses 3\' to 5\' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(34186,'NCBI Gene PubMed Count',NULL,10568,NULL,NULL,NULL,97,NULL,NULL,NULL),(34187,'NCBI Gene Summary',NULL,10569,NULL,'Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(34188,'NCBI Gene PubMed Count',NULL,10569,NULL,NULL,NULL,13,NULL,NULL,NULL),(34189,'NCBI Gene Summary',NULL,10570,NULL,'This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34190,'NCBI Gene PubMed Count',NULL,10570,NULL,NULL,NULL,7,NULL,NULL,NULL),(34191,'NCBI Gene Summary',NULL,10571,NULL,'This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(34192,'NCBI Gene PubMed Count',NULL,10571,NULL,NULL,NULL,16,NULL,NULL,NULL),(34193,'NCBI Gene PubMed Count',NULL,10572,NULL,NULL,NULL,15,NULL,NULL,NULL),(34194,'NCBI Gene Summary',NULL,10573,NULL,'Poly(ADP-ribose) glycohydrolase (PARG) is the major enzyme responsible for the catabolism of poly(ADP-ribose), a reversible covalent-modifier of chromosomal proteins. The protein is found in many tissues and may be subject to proteolysis generating smaller, active products. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(34195,'NCBI Gene PubMed Count',NULL,10573,NULL,NULL,NULL,50,NULL,NULL,NULL),(34196,'NCBI Gene PubMed Count',NULL,10574,NULL,NULL,NULL,19,NULL,NULL,NULL),(34197,'NCBI Gene PubMed Count',NULL,10575,NULL,NULL,NULL,7,NULL,NULL,NULL),(34198,'NCBI Gene Summary',NULL,10576,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34199,'NCBI Gene PubMed Count',NULL,10576,NULL,NULL,NULL,9,NULL,NULL,NULL),(34200,'NCBI Gene Summary',NULL,10577,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34201,'NCBI Gene PubMed Count',NULL,10577,NULL,NULL,NULL,9,NULL,NULL,NULL),(34202,'NCBI Gene Summary',NULL,10578,NULL,'This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(34203,'NCBI Gene PubMed Count',NULL,10578,NULL,NULL,NULL,28,NULL,NULL,NULL),(34204,'NCBI Gene PubMed Count',NULL,10579,NULL,NULL,NULL,9,NULL,NULL,NULL),(34205,'NCBI Gene Summary',NULL,10580,NULL,'The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34206,'NCBI Gene PubMed Count',NULL,10580,NULL,NULL,NULL,12,NULL,NULL,NULL),(34207,'NCBI Gene Summary',NULL,10581,NULL,'This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34208,'NCBI Gene PubMed Count',NULL,10581,NULL,NULL,NULL,37,NULL,NULL,NULL),(34209,'NCBI Gene Summary',NULL,10582,NULL,'This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(34210,'NCBI Gene PubMed Count',NULL,10582,NULL,NULL,NULL,54,NULL,NULL,NULL),(34211,'NCBI Gene Summary',NULL,10583,NULL,'This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(34212,'NCBI Gene PubMed Count',NULL,10583,NULL,NULL,NULL,31,NULL,NULL,NULL),(34213,'NCBI Gene PubMed Count',NULL,10584,NULL,NULL,NULL,9,NULL,NULL,NULL),(34214,'NCBI Gene PubMed Count',NULL,10585,NULL,NULL,NULL,3,NULL,NULL,NULL),(34215,'NCBI Gene Summary',NULL,10586,NULL,'This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(34216,'NCBI Gene PubMed Count',NULL,10586,NULL,NULL,NULL,112,NULL,NULL,NULL),(34217,'NCBI Gene Summary',NULL,10587,NULL,'PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their transfer to the cytosolic chaperonin containing TCP1 (MIM 186980) (CCT) complex (Hansen et al., 1999 [PubMed 10209023]).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(34218,'NCBI Gene PubMed Count',NULL,10587,NULL,NULL,NULL,16,NULL,NULL,NULL),(34219,'NCBI Gene Summary',NULL,10588,NULL,'This gene has characteristics of a pseudogene derived from the UQCRH gene. However, there is still an open reading frame that could produce a protein of the same or nearly the same size as that of the UQCRH gene, so this gene is being called protein-coding for now. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34220,'NCBI Gene PubMed Count',NULL,10588,NULL,NULL,NULL,2,NULL,NULL,NULL),(34221,'NCBI Gene Summary',NULL,10589,NULL,'QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(34222,'NCBI Gene PubMed Count',NULL,10589,NULL,NULL,NULL,13,NULL,NULL,NULL),(34223,'NCBI Gene PubMed Count',NULL,10590,NULL,NULL,NULL,9,NULL,NULL,NULL),(34224,'NCBI Gene Summary',NULL,10591,NULL,'The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34225,'NCBI Gene PubMed Count',NULL,10591,NULL,NULL,NULL,11,NULL,NULL,NULL),(34226,'NCBI Gene Summary',NULL,10592,NULL,'This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(34227,'NCBI Gene PubMed Count',NULL,10592,NULL,NULL,NULL,13,NULL,NULL,NULL),(34228,'NCBI Gene PubMed Count',NULL,10593,NULL,NULL,NULL,17,NULL,NULL,NULL),(34229,'NCBI Gene Summary',NULL,10594,NULL,'This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(34230,'NCBI Gene PubMed Count',NULL,10594,NULL,NULL,NULL,66,NULL,NULL,NULL),(34231,'NCBI Gene Summary',NULL,10595,NULL,'The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34232,'NCBI Gene PubMed Count',NULL,10595,NULL,NULL,NULL,15,NULL,NULL,NULL),(34233,'NCBI Gene Summary',NULL,10596,NULL,'This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(34234,'NCBI Gene PubMed Count',NULL,10596,NULL,NULL,NULL,35,NULL,NULL,NULL),(34235,'NCBI Gene Summary',NULL,10597,NULL,'The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(34236,'NCBI Gene PubMed Count',NULL,10597,NULL,NULL,NULL,26,NULL,NULL,NULL),(34237,'NCBI Gene Summary',NULL,10598,NULL,'This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(34238,'NCBI Gene PubMed Count',NULL,10598,NULL,NULL,NULL,110,NULL,NULL,NULL),(34239,'NCBI Gene Summary',NULL,10599,NULL,'This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(34240,'NCBI Gene PubMed Count',NULL,10599,NULL,NULL,NULL,11,NULL,NULL,NULL),(34241,'NCBI Gene PubMed Count',NULL,10600,NULL,NULL,NULL,9,NULL,NULL,NULL),(34242,'NCBI Gene Summary',NULL,10601,NULL,'This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(34243,'NCBI Gene PubMed Count',NULL,10601,NULL,NULL,NULL,13,NULL,NULL,NULL),(34244,'NCBI Gene Summary',NULL,10602,NULL,'This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(34245,'NCBI Gene PubMed Count',NULL,10602,NULL,NULL,NULL,35,NULL,NULL,NULL),(34246,'NCBI Gene Summary',NULL,10603,NULL,'This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has been shown to interact with a ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(34247,'NCBI Gene PubMed Count',NULL,10603,NULL,NULL,NULL,14,NULL,NULL,NULL),(34248,'NCBI Gene Summary',NULL,10604,NULL,'Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(34249,'NCBI Gene PubMed Count',NULL,10604,NULL,NULL,NULL,26,NULL,NULL,NULL),(34250,'NCBI Gene Summary',NULL,10605,NULL,'This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(34251,'NCBI Gene PubMed Count',NULL,10605,NULL,NULL,NULL,37,NULL,NULL,NULL),(34252,'NCBI Gene Summary',NULL,10606,NULL,'The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(34253,'NCBI Gene PubMed Count',NULL,10606,NULL,NULL,NULL,9,NULL,NULL,NULL),(34254,'NCBI Gene Summary',NULL,10607,NULL,'The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34255,'NCBI Gene PubMed Count',NULL,10607,NULL,NULL,NULL,100,NULL,NULL,NULL),(34256,'NCBI Gene Summary',NULL,10608,NULL,'RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(34257,'NCBI Gene PubMed Count',NULL,10608,NULL,NULL,NULL,22,NULL,NULL,NULL),(34258,'NCBI Gene PubMed Count',NULL,10609,NULL,NULL,NULL,18,NULL,NULL,NULL),(34259,'NCBI Gene PubMed Count',NULL,10610,NULL,NULL,NULL,28,NULL,NULL,NULL),(34260,'NCBI Gene Summary',NULL,10611,NULL,'The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(34261,'NCBI Gene PubMed Count',NULL,10611,NULL,NULL,NULL,179,NULL,NULL,NULL),(34262,'NCBI Gene Summary',NULL,10612,NULL,'This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(34263,'NCBI Gene PubMed Count',NULL,10612,NULL,NULL,NULL,22,NULL,NULL,NULL),(34264,'NCBI Gene Summary',NULL,10613,NULL,'This gene encodes a constitutively active member of the small GTPase Ras protein family. The encoded protein activates the phosphatidylinositol 3-kinase signal transduction pathway in undifferentiated stem cells, but is not expressed in differentiated cells. This gene may be involved in cancer and chemotherapy resistance. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(34265,'NCBI Gene PubMed Count',NULL,10613,NULL,NULL,NULL,19,NULL,NULL,NULL),(34266,'NCBI Gene Summary',NULL,10614,NULL,'This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(34267,'NCBI Gene PubMed Count',NULL,10614,NULL,NULL,NULL,31,NULL,NULL,NULL),(34268,'NCBI Gene PubMed Count',NULL,10615,NULL,NULL,NULL,51,NULL,NULL,NULL),(34269,'NCBI Gene PubMed Count',NULL,10616,NULL,NULL,NULL,18,NULL,NULL,NULL),(34270,'NCBI Gene PubMed Count',NULL,10617,NULL,NULL,NULL,124,NULL,NULL,NULL),(34271,'NCBI Gene Summary',NULL,10618,NULL,'This locus represents naturally occurring read-through transcription between the neighboring RBM14 (RNA binding motif protein 14) and RBM4 (RNA binding motif protein 4) genes. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This fusion protein contains RRM and zinc finger domains, and it functions to stimulate transcription in a hormone and receptor-dependent manner. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(34272,'NCBI Gene PubMed Count',NULL,10618,NULL,NULL,NULL,3,NULL,NULL,NULL),(34273,'NCBI Gene PubMed Count',NULL,10619,NULL,NULL,NULL,16,NULL,NULL,NULL),(34274,'NCBI Gene PubMed Count',NULL,10620,NULL,NULL,NULL,9,NULL,NULL,NULL),(34275,'NCBI Gene Summary',NULL,10621,NULL,'Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(34276,'NCBI Gene PubMed Count',NULL,10621,NULL,NULL,NULL,25,NULL,NULL,NULL),(34277,'NCBI Gene Summary',NULL,10622,NULL,'This gene is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). The encoded protein is involved in the assembly of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. The AJC plays a role in forming a barrier between luminal contents and the underlying tissue. Additional functions associated with the protein include endocytic recycling of occludin, regulation of epithelial cell scattering, neuronal regeneration and regulation of neurite outgrowth. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 12. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(34278,'NCBI Gene PubMed Count',NULL,10622,NULL,NULL,NULL,37,NULL,NULL,NULL),(34279,'NCBI Gene PubMed Count',NULL,10623,NULL,NULL,NULL,23,NULL,NULL,NULL),(34280,'NCBI Gene Summary',NULL,10624,NULL,'This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(34281,'NCBI Gene PubMed Count',NULL,10624,NULL,NULL,NULL,17,NULL,NULL,NULL),(34282,'NCBI Gene Summary',NULL,10625,NULL,'The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(34283,'NCBI Gene PubMed Count',NULL,10625,NULL,NULL,NULL,45,NULL,NULL,NULL),(34284,'NCBI Gene Summary',NULL,10626,NULL,'Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM, Apr 2006]',NULL,NULL,NULL,NULL,NULL),(34285,'NCBI Gene PubMed Count',NULL,10626,NULL,NULL,NULL,19,NULL,NULL,NULL),(34286,'NCBI Gene Summary',NULL,10627,NULL,'Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM, Apr 2006]',NULL,NULL,NULL,NULL,NULL),(34287,'NCBI Gene PubMed Count',NULL,10627,NULL,NULL,NULL,12,NULL,NULL,NULL),(34288,'NCBI Gene Summary',NULL,10628,NULL,'Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(34289,'NCBI Gene PubMed Count',NULL,10628,NULL,NULL,NULL,29,NULL,NULL,NULL),(34290,'NCBI Gene PubMed Count',NULL,10629,NULL,NULL,NULL,17,NULL,NULL,NULL),(34291,'NCBI Gene Summary',NULL,10630,NULL,'This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(34292,'NCBI Gene PubMed Count',NULL,10630,NULL,NULL,NULL,73,NULL,NULL,NULL),(34293,'NCBI Gene Summary',NULL,10631,NULL,'RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking (Bao et al., 1998 [PubMed 9918381]).[supplied by OMIM, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(34294,'NCBI Gene PubMed Count',NULL,10631,NULL,NULL,NULL,50,NULL,NULL,NULL),(34295,'NCBI Gene Summary',NULL,10632,NULL,'Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(34296,'NCBI Gene PubMed Count',NULL,10632,NULL,NULL,NULL,102,NULL,NULL,NULL),(34297,'NCBI Gene Summary',NULL,10633,NULL,'The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(34298,'NCBI Gene PubMed Count',NULL,10633,NULL,NULL,NULL,193,NULL,NULL,NULL),(34299,'NCBI Gene Summary',NULL,10634,NULL,'This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(34300,'NCBI Gene PubMed Count',NULL,10634,NULL,NULL,NULL,27,NULL,NULL,NULL),(34301,'NCBI Gene Summary',NULL,10635,NULL,'This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(34302,'NCBI Gene PubMed Count',NULL,10635,NULL,NULL,NULL,46,NULL,NULL,NULL),(34303,'NCBI Gene Summary',NULL,10636,NULL,'The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM, Jul 2003]',NULL,NULL,NULL,NULL,NULL),(34304,'NCBI Gene PubMed Count',NULL,10636,NULL,NULL,NULL,15,NULL,NULL,NULL),(34305,'NCBI Gene Summary',NULL,10637,NULL,'The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(34306,'NCBI Gene PubMed Count',NULL,10637,NULL,NULL,NULL,67,NULL,NULL,NULL),(34307,'NCBI Gene Summary',NULL,10638,NULL,'This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(34308,'NCBI Gene PubMed Count',NULL,10638,NULL,NULL,NULL,11,NULL,NULL,NULL),(34309,'NCBI Gene Summary',NULL,10639,NULL,'This gene encodes a member of the RNA-binding motif family of RNA recognition motif proteins. The encoded protein contains an RNA-binding domain made up of two RNA recognition motif subdomains referred to as RNA recognition motif-1 and RNA recognition motif-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(34310,'NCBI Gene PubMed Count',NULL,10639,NULL,NULL,NULL,15,NULL,NULL,NULL),(34311,'NCBI Gene PubMed Count',NULL,10640,NULL,NULL,NULL,9,NULL,NULL,NULL),(34312,'NCBI Gene PubMed Count',NULL,10641,NULL,NULL,NULL,9,NULL,NULL,NULL),(34313,'NCBI Gene Summary',NULL,10642,NULL,'This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(34314,'NCBI Gene PubMed Count',NULL,10642,NULL,NULL,NULL,56,NULL,NULL,NULL),(34315,'NCBI Gene Summary',NULL,10643,NULL,'This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(34316,'NCBI Gene PubMed Count',NULL,10643,NULL,NULL,NULL,18,NULL,NULL,NULL),(34317,'NCBI Gene Summary',NULL,10644,NULL,'This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer\'s patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(34318,'NCBI Gene PubMed Count',NULL,10644,NULL,NULL,NULL,16,NULL,NULL,NULL),(34319,'NCBI Gene Summary',NULL,10645,NULL,'This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(34320,'NCBI Gene PubMed Count',NULL,10645,NULL,NULL,NULL,66,NULL,NULL,NULL),(34321,'NCBI Gene PubMed Count',NULL,10646,NULL,NULL,NULL,10,NULL,NULL,NULL),(34322,'NCBI Gene PubMed Count',NULL,10647,NULL,NULL,NULL,5,NULL,NULL,NULL),(34323,'NCBI Gene Summary',NULL,10648,NULL,'This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(34324,'NCBI Gene PubMed Count',NULL,10648,NULL,NULL,NULL,223,NULL,NULL,NULL),(34325,'NCBI Gene PubMed Count',NULL,10649,NULL,NULL,NULL,14,NULL,NULL,NULL),(34326,'NCBI Gene PubMed Count',NULL,10650,NULL,NULL,NULL,18,NULL,NULL,NULL),(34327,'NCBI Gene Summary',NULL,10651,NULL,'This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(34328,'NCBI Gene PubMed Count',NULL,10651,NULL,NULL,NULL,10,NULL,NULL,NULL),(34329,'NCBI Gene PubMed Count',NULL,10652,NULL,NULL,NULL,13,NULL,NULL,NULL),(34330,'NCBI Gene Summary',NULL,10653,NULL,'This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5\' UTR results in four transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(34331,'NCBI Gene PubMed Count',NULL,10653,NULL,NULL,NULL,20,NULL,NULL,NULL),(34332,'NCBI Gene Summary',NULL,10654,NULL,'RAN is a small GTPase involved in the assembly of microtubules to form mitotic spindles. The protein encoded by this gene is a cytoplasmic guanine nucleotide exchange factor (GEF) that binds beta-tubulin and has GEF activity toward RAN. The encoded protein plays a role in the formation of noncentrosomal microtubules. In addition, this protein may be involved in the regulation of D(1) receptor signaling by protein kinase C delta and protein kinase C gamma. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(34333,'NCBI Gene PubMed Count',NULL,10654,NULL,NULL,NULL,14,NULL,NULL,NULL),(34334,'NCBI Gene Summary',NULL,10655,NULL,'This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(34335,'NCBI Gene PubMed Count',NULL,10655,NULL,NULL,NULL,55,NULL,NULL,NULL),(34336,'NCBI Gene Summary',NULL,10656,NULL,'This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(34337,'NCBI Gene PubMed Count',NULL,10656,NULL,NULL,NULL,20,NULL,NULL,NULL),(34338,'NCBI Gene Summary',NULL,10657,NULL,'This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(34339,'NCBI Gene PubMed Count',NULL,10657,NULL,NULL,NULL,58,NULL,NULL,NULL),(34340,'NCBI Gene Summary',NULL,10658,NULL,'This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(34341,'NCBI Gene PubMed Count',NULL,10658,NULL,NULL,NULL,9,NULL,NULL,NULL),(34342,'NCBI Gene Summary',NULL,10659,NULL,'This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(34343,'NCBI Gene PubMed Count',NULL,10659,NULL,NULL,NULL,45,NULL,NULL,NULL),(34344,'NCBI Gene Summary',NULL,10660,NULL,'LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(34345,'NCBI Gene PubMed Count',NULL,10660,NULL,NULL,NULL,120,NULL,NULL,NULL),(34346,'NCBI Gene Summary',NULL,10661,NULL,'This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(34347,'NCBI Gene PubMed Count',NULL,10661,NULL,NULL,NULL,15,NULL,NULL,NULL),(34348,'NCBI Gene Summary',NULL,10662,NULL,'This locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(34349,'NCBI Gene PubMed Count',NULL,10662,NULL,NULL,NULL,112,NULL,NULL,NULL),(34350,'NCBI Gene Summary',NULL,10663,NULL,'This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein is thought to function as a splicing regulator during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(34351,'NCBI Gene PubMed Count',NULL,10663,NULL,NULL,NULL,39,NULL,NULL,NULL),(34352,'NCBI Gene PubMed Count',NULL,10664,NULL,NULL,NULL,6,NULL,NULL,NULL),(34353,'NCBI Gene PubMed Count',NULL,10665,NULL,NULL,NULL,60,NULL,NULL,NULL),(34354,'NCBI Gene Summary',NULL,10666,NULL,'The protein encoded by this gene is a guanine exchange factor that is active on RalA, a small GTPase. The encoded protein and RalA are both essential for proper kinetochore-microtubule function in early mitosis. This protein has been shown to be a biomarker for colorectal cancer. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(34355,'NCBI Gene PubMed Count',NULL,10666,NULL,NULL,NULL,26,NULL,NULL,NULL),(34356,'NCBI Gene Summary',NULL,10667,NULL,'The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(34357,'NCBI Gene PubMed Count',NULL,10667,NULL,NULL,NULL,7,NULL,NULL,NULL),(34358,'NCBI Gene PubMed Count',NULL,10668,NULL,NULL,NULL,19,NULL,NULL,NULL),(34359,'NCBI Gene Summary',NULL,10669,NULL,'The protein encoded by this gene is highly expressed in late-pregnancy serum and is similar in structure to alpha-2-macroglobulin. The encoded protein, which acts as a homotetramer, inhibits the activity of all four classes of proteinases. This protein contains cleavage sites for several proteinases. Upon binding of a proteinase, the conformation of this protein changes to trap the proteinase, limiting its activity. This protein appears to be elevated in the sera of presymptomatic Alzheimer\'s disease patients. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(34360,'NCBI Gene PubMed Count',NULL,10669,NULL,NULL,NULL,30,NULL,NULL,NULL),(34361,'NCBI Gene Summary',NULL,10670,NULL,'This gene encodes a subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine, and tyrosine. The encoded protein may play a role in the queuosine 5\'-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(34362,'NCBI Gene PubMed Count',NULL,10670,NULL,NULL,NULL,7,NULL,NULL,NULL),(34363,'NCBI Gene PubMed Count',NULL,10671,NULL,NULL,NULL,8,NULL,NULL,NULL),(34364,'NCBI Gene Summary',NULL,10672,NULL,'This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(34365,'NCBI Gene PubMed Count',NULL,10672,NULL,NULL,NULL,22,NULL,NULL,NULL),(34366,'NCBI Gene PubMed Count',NULL,10673,NULL,NULL,NULL,5,NULL,NULL,NULL),(34367,'NCBI Gene Summary',NULL,10674,NULL,'The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(34368,'NCBI Gene PubMed Count',NULL,10674,NULL,NULL,NULL,70,NULL,NULL,NULL),(34369,'NCBI Gene PubMed Count',NULL,10675,NULL,NULL,NULL,13,NULL,NULL,NULL),(34370,'NCBI Gene PubMed Count',NULL,10676,NULL,NULL,NULL,2,NULL,NULL,NULL),(34371,'NCBI Gene Summary',NULL,10677,NULL,'GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(34372,'NCBI Gene PubMed Count',NULL,10677,NULL,NULL,NULL,22,NULL,NULL,NULL),(34373,'NCBI Gene Summary',NULL,10678,NULL,'The protein encoded by this gene is a member of the RAS superfamily of small GTPases. The encoded protein is involved in membrane trafficking and cell survival. This gene has been found to be a tumor suppressor and an oncogene, depending on the context. Two variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(34374,'NCBI Gene PubMed Count',NULL,10678,NULL,NULL,NULL,56,NULL,NULL,NULL),(34375,'NCBI Gene Summary',NULL,10679,NULL,'RAB proteins, such as RAB4B, are members of the RAS superfamily of small GTPases that are involved in vesicular trafficking (He et al., 2002 [PubMed 12450215]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(34376,'NCBI Gene PubMed Count',NULL,10679,NULL,NULL,NULL,14,NULL,NULL,NULL),(34377,'NCBI Gene PubMed Count',NULL,10680,NULL,NULL,NULL,3,NULL,NULL,NULL),(34378,'NCBI Gene Summary',NULL,10681,NULL,'This gene encodes a protein that binds to all members of the R7 subfamily of regulators of G protein signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded protein could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the protein to the nucleus. Polymorphisms in this gene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(34379,'NCBI Gene PubMed Count',NULL,10681,NULL,NULL,NULL,10,NULL,NULL,NULL),(34380,'NCBI Gene PubMed Count',NULL,10682,NULL,NULL,NULL,13,NULL,NULL,NULL),(34381,'NCBI Gene PubMed Count',NULL,10683,NULL,NULL,NULL,28,NULL,NULL,NULL),(34382,'NCBI Gene Summary',NULL,10684,NULL,'The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34383,'NCBI Gene PubMed Count',NULL,10684,NULL,NULL,NULL,39,NULL,NULL,NULL),(34384,'NCBI Gene PubMed Count',NULL,10685,NULL,NULL,NULL,28,NULL,NULL,NULL),(34385,'NCBI Gene Summary',NULL,10686,NULL,'RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34386,'NCBI Gene PubMed Count',NULL,10686,NULL,NULL,NULL,137,NULL,NULL,NULL),(34387,'NCBI Gene Summary',NULL,10687,NULL,'This gene encodes a small GTP-binding protein that belongs to the largest family within the Ras superfamily. These proteins function as regulators of membrane trafficking. They cycle between inactive GDP-bound and activated GTP-bound states, which is controlled by GTP hydrolysis-activating proteins (GAPs). This family member can be activated by the GAP protein RN-Tre, and it is localized to the Golgi complex. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(34388,'NCBI Gene PubMed Count',NULL,10687,NULL,NULL,NULL,7,NULL,NULL,NULL),(34389,'NCBI Gene PubMed Count',NULL,10688,NULL,NULL,NULL,3,NULL,NULL,NULL),(34390,'NCBI Gene PubMed Count',NULL,10689,NULL,NULL,NULL,14,NULL,NULL,NULL),(34391,'NCBI Gene Summary',NULL,10690,NULL,'Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34392,'NCBI Gene PubMed Count',NULL,10690,NULL,NULL,NULL,33,NULL,NULL,NULL),(34393,'NCBI Gene Summary',NULL,10691,NULL,'This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(34394,'NCBI Gene PubMed Count',NULL,10691,NULL,NULL,NULL,76,NULL,NULL,NULL),(34395,'NCBI Gene Summary',NULL,10692,NULL,'The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34396,'NCBI Gene PubMed Count',NULL,10692,NULL,NULL,NULL,21,NULL,NULL,NULL),(34397,'NCBI Gene Summary',NULL,10693,NULL,'The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994 [PubMed 7811277]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(34398,'NCBI Gene PubMed Count',NULL,10693,NULL,NULL,NULL,36,NULL,NULL,NULL),(34399,'NCBI Gene Summary',NULL,10694,NULL,'This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. A pseudogene of this gene is present on the Y chromosome. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(34400,'NCBI Gene PubMed Count',NULL,10694,NULL,NULL,NULL,17,NULL,NULL,NULL),(34401,'NCBI Gene Summary',NULL,10695,NULL,'The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5\'-ATTTGCAT-3\', a common transcription factor binding site in immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(34402,'NCBI Gene PubMed Count',NULL,10695,NULL,NULL,NULL,51,NULL,NULL,NULL),(34403,'NCBI Gene PubMed Count',NULL,10697,NULL,NULL,NULL,40,NULL,NULL,NULL),(34404,'NCBI Gene Summary',NULL,10698,NULL,'POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(34405,'NCBI Gene PubMed Count',NULL,10698,NULL,NULL,NULL,24,NULL,NULL,NULL),(34406,'NCBI Gene Summary',NULL,10699,NULL,'This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(34407,'NCBI Gene PubMed Count',NULL,10699,NULL,NULL,NULL,22,NULL,NULL,NULL),(34408,'NCBI Gene PubMed Count',NULL,10700,NULL,NULL,NULL,7,NULL,NULL,NULL),(34409,'NCBI Gene Summary',NULL,10701,NULL,'The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length sequences. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34410,'NCBI Gene PubMed Count',NULL,10701,NULL,NULL,NULL,36,NULL,NULL,NULL),(34411,'NCBI Gene Summary',NULL,10702,NULL,'This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(34412,'NCBI Gene PubMed Count',NULL,10702,NULL,NULL,NULL,3,NULL,NULL,NULL),(34413,'NCBI Gene Summary',NULL,10703,NULL,'This gene is reported to be specifically expressed in prostate, rectum and distal colon. Sequence analysis suggests that it may play a regulatory role in the nucleus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34414,'NCBI Gene PubMed Count',NULL,10703,NULL,NULL,NULL,4,NULL,NULL,NULL),(34415,'NCBI Gene PubMed Count',NULL,10704,NULL,NULL,NULL,0,NULL,NULL,NULL),(34416,'NCBI Gene Summary',NULL,10705,NULL,'This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(34417,'NCBI Gene PubMed Count',NULL,10705,NULL,NULL,NULL,13,NULL,NULL,NULL),(34418,'NCBI Gene Summary',NULL,10706,NULL,'This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(34419,'NCBI Gene PubMed Count',NULL,10706,NULL,NULL,NULL,67,NULL,NULL,NULL),(34420,'NCBI Gene PubMed Count',NULL,10707,NULL,NULL,NULL,3,NULL,NULL,NULL),(34421,'NCBI Gene Summary',NULL,10708,NULL,'The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(34422,'NCBI Gene PubMed Count',NULL,10708,NULL,NULL,NULL,29,NULL,NULL,NULL),(34423,'NCBI Gene Summary',NULL,10709,NULL,'This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(34424,'NCBI Gene PubMed Count',NULL,10709,NULL,NULL,NULL,85,NULL,NULL,NULL),(34425,'NCBI Gene PubMed Count',NULL,10710,NULL,NULL,NULL,8,NULL,NULL,NULL),(34426,'NCBI Gene Summary',NULL,10711,NULL,'This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(34427,'NCBI Gene PubMed Count',NULL,10711,NULL,NULL,NULL,154,NULL,NULL,NULL),(34428,'NCBI Gene Summary',NULL,10712,NULL,'The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(34429,'NCBI Gene PubMed Count',NULL,10712,NULL,NULL,NULL,70,NULL,NULL,NULL),(34430,'NCBI Gene Summary',NULL,10713,NULL,'The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34431,'NCBI Gene PubMed Count',NULL,10713,NULL,NULL,NULL,573,NULL,NULL,NULL),(34432,'NCBI Gene Summary',NULL,10714,NULL,'The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(34433,'NCBI Gene PubMed Count',NULL,10714,NULL,NULL,NULL,16,NULL,NULL,NULL),(34434,'NCBI Gene Summary',NULL,10715,NULL,'This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(34435,'NCBI Gene PubMed Count',NULL,10715,NULL,NULL,NULL,7,NULL,NULL,NULL),(34436,'NCBI Gene Summary',NULL,10716,NULL,'This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34437,'NCBI Gene PubMed Count',NULL,10716,NULL,NULL,NULL,11,NULL,NULL,NULL),(34438,'NCBI Gene Summary',NULL,10717,NULL,'The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(34439,'NCBI Gene PubMed Count',NULL,10717,NULL,NULL,NULL,22,NULL,NULL,NULL),(34440,'NCBI Gene Summary',NULL,10718,NULL,'The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(34441,'NCBI Gene PubMed Count',NULL,10718,NULL,NULL,NULL,28,NULL,NULL,NULL),(34442,'NCBI Gene PubMed Count',NULL,10719,NULL,NULL,NULL,4,NULL,NULL,NULL),(34443,'NCBI Gene Summary',NULL,10720,NULL,'The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(34444,'NCBI Gene PubMed Count',NULL,10720,NULL,NULL,NULL,55,NULL,NULL,NULL),(34445,'NCBI Gene PubMed Count',NULL,10721,NULL,NULL,NULL,8,NULL,NULL,NULL),(34446,'NCBI Gene Summary',NULL,10722,NULL,'This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34447,'NCBI Gene PubMed Count',NULL,10722,NULL,NULL,NULL,667,NULL,NULL,NULL),(34448,'NCBI Gene Summary',NULL,10723,NULL,'This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(34449,'NCBI Gene PubMed Count',NULL,10723,NULL,NULL,NULL,324,NULL,NULL,NULL),(34450,'NCBI Gene Summary',NULL,10724,NULL,'RAN (ras-related nuclear protein) is a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The RAN protein is also involved in control of DNA synthesis and cell cycle progression. Nuclear localization of RAN requires the presence of regulator of chromosome condensation 1 (RCC1). Mutations in RAN disrupt DNA synthesis. Because of its many functions, it is likely that RAN interacts with several other proteins. RAN regulates formation and organization of the microtubule network independently of its role in the nucleus-cytosol exchange of macromolecules. RAN could be a key signaling molecule regulating microtubule polymerization during mitosis. RCC1 generates a high local concentration of RAN-GTP around chromatin which, in turn, induces the local nucleation of microtubules.  RAN is an androgen receptor (AR) coactivator that binds differentially with different lengths of polyglutamine within the androgen receptor. Polyglutamine repeat expansion in the AR is linked to Kennedy\'s disease (X-linked spinal and bulbar muscular atrophy). RAN coactivation of the AR diminishes with polyglutamine expansion within the AR, and this weak coactivation may lead to partial androgen insensitivity during the development of Kennedy\'s disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34451,'NCBI Gene PubMed Count',NULL,10724,NULL,NULL,NULL,234,NULL,NULL,NULL),(34452,'NCBI Gene PubMed Count',NULL,10725,NULL,NULL,NULL,0,NULL,NULL,NULL),(34453,'NCBI Gene Summary',NULL,10726,NULL,'This gene belongs to the Ras GTPase-activating proteins (RasGAP) family and encodes a protein with pleckstrin homology (PH), C2, and Ras GTPase-activation protein (RasGAP) domains. This protein is localized near or at the plasma membrane when expressed exogenously. Reduced expression of this gene in some cell lines resulted in increased levels of the active form of Ras (Ras-GTP), suggesting that this gene may play a role in negatively regulating the Ras signaling pathway. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(34454,'NCBI Gene PubMed Count',NULL,10726,NULL,NULL,NULL,7,NULL,NULL,NULL),(34455,'NCBI Gene Summary',NULL,10727,NULL,'This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(34456,'NCBI Gene PubMed Count',NULL,10727,NULL,NULL,NULL,99,NULL,NULL,NULL),(34457,'NCBI Gene Summary',NULL,10728,NULL,'This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(34458,'NCBI Gene PubMed Count',NULL,10728,NULL,NULL,NULL,470,NULL,NULL,NULL),(34459,'NCBI Gene Summary',NULL,10729,NULL,'The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34460,'NCBI Gene PubMed Count',NULL,10729,NULL,NULL,NULL,34,NULL,NULL,NULL),(34461,'NCBI Gene PubMed Count',NULL,10730,NULL,NULL,NULL,12,NULL,NULL,NULL),(34462,'NCBI Gene Summary',NULL,10731,NULL,'UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(34463,'NCBI Gene PubMed Count',NULL,10731,NULL,NULL,NULL,14,NULL,NULL,NULL),(34464,'NCBI Gene PubMed Count',NULL,10732,NULL,NULL,NULL,5,NULL,NULL,NULL),(34465,'NCBI Gene Summary',NULL,10733,NULL,'This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(34466,'NCBI Gene PubMed Count',NULL,10733,NULL,NULL,NULL,95,NULL,NULL,NULL),(34467,'NCBI Gene PubMed Count',NULL,10734,NULL,NULL,NULL,30,NULL,NULL,NULL),(34468,'NCBI Gene Summary',NULL,10735,NULL,'Members of the RAB protein family, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(34469,'NCBI Gene PubMed Count',NULL,10735,NULL,NULL,NULL,16,NULL,NULL,NULL),(34470,'NCBI Gene PubMed Count',NULL,10736,NULL,NULL,NULL,43,NULL,NULL,NULL),(34471,'NCBI Gene PubMed Count',NULL,10737,NULL,NULL,NULL,4,NULL,NULL,NULL),(34472,'NCBI Gene PubMed Count',NULL,10738,NULL,NULL,NULL,3,NULL,NULL,NULL),(34473,'NCBI Gene PubMed Count',NULL,10739,NULL,NULL,NULL,11,NULL,NULL,NULL),(34474,'NCBI Gene PubMed Count',NULL,10740,NULL,NULL,NULL,18,NULL,NULL,NULL),(34475,'NCBI Gene PubMed Count',NULL,10741,NULL,NULL,NULL,6,NULL,NULL,NULL),(34476,'NCBI Gene Summary',NULL,10742,NULL,'This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(34477,'NCBI Gene PubMed Count',NULL,10742,NULL,NULL,NULL,10,NULL,NULL,NULL),(34478,'NCBI Gene Summary',NULL,10743,NULL,'This gene encodes a member of the Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs), and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore affected by the balance of intracellular levels of GEFs and GAPs. The encoded protein regulates signaling pathways that affect cell proliferation and adhesion, and may play a role in tumor malignancy. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(34479,'NCBI Gene PubMed Count',NULL,10743,NULL,NULL,NULL,173,NULL,NULL,NULL),(34480,'NCBI Gene Summary',NULL,10744,NULL,'This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch\'s membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(34481,'NCBI Gene PubMed Count',NULL,10744,NULL,NULL,NULL,5,NULL,NULL,NULL),(34482,'NCBI Gene PubMed Count',NULL,10745,NULL,NULL,NULL,4,NULL,NULL,NULL),(34483,'NCBI Gene Summary',NULL,10746,NULL,'This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(34484,'NCBI Gene PubMed Count',NULL,10746,NULL,NULL,NULL,11,NULL,NULL,NULL),(34485,'NCBI Gene Summary',NULL,10747,NULL,'This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34486,'NCBI Gene PubMed Count',NULL,10747,NULL,NULL,NULL,15,NULL,NULL,NULL),(34487,'NCBI Gene PubMed Count',NULL,10748,NULL,NULL,NULL,30,NULL,NULL,NULL),(34488,'NCBI Gene Summary',NULL,10749,NULL,'This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34489,'NCBI Gene PubMed Count',NULL,10749,NULL,NULL,NULL,13,NULL,NULL,NULL),(34490,'NCBI Gene Summary',NULL,10750,NULL,'The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34491,'NCBI Gene PubMed Count',NULL,10750,NULL,NULL,NULL,85,NULL,NULL,NULL),(34492,'NCBI Gene Summary',NULL,10751,NULL,'The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(34493,'NCBI Gene PubMed Count',NULL,10751,NULL,NULL,NULL,113,NULL,NULL,NULL),(34494,'NCBI Gene Summary',NULL,10752,NULL,'This gene encodes a growth factor found in placenta which is homologous to vascular endothelial growth factor. Alternatively spliced transcripts encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(34495,'NCBI Gene PubMed Count',NULL,10752,NULL,NULL,NULL,329,NULL,NULL,NULL),(34496,'NCBI Gene Summary',NULL,10753,NULL,'This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(34497,'NCBI Gene PubMed Count',NULL,10753,NULL,NULL,NULL,7,NULL,NULL,NULL),(34498,'NCBI Gene PubMed Count',NULL,10754,NULL,NULL,NULL,10,NULL,NULL,NULL),(34499,'NCBI Gene Summary',NULL,10755,NULL,'The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5\' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(34500,'NCBI Gene PubMed Count',NULL,10755,NULL,NULL,NULL,78,NULL,NULL,NULL),(34501,'NCBI Gene PubMed Count',NULL,10756,NULL,NULL,NULL,11,NULL,NULL,NULL),(34502,'NCBI Gene Summary',NULL,10757,NULL,'This gene encodes a member of the CXC chemokine family. This chemokine is released from the alpha granules of activated platelets in the form of a homotetramer which has high affinity for heparin and is involved in platelet aggregation. This protein is chemotactic for numerous other cell type and also functions as an inhibitor of hematopoiesis, angiogenesis and T-cell function. The protein also exhibits antimicrobial activity against Plasmodium falciparum. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(34503,'NCBI Gene PubMed Count',NULL,10757,NULL,NULL,NULL,181,NULL,NULL,NULL),(34504,'NCBI Gene Summary',NULL,10758,NULL,'This gene encodes an integral membrane protein that localizes to the endoplasmic reticulum in colonic epithelial cells. The encoded protein can multimerize and may function as an ion channel. A polymorphism in the promoter of this gene may be linked to an increased risk of X-linked cognitive disability. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(34505,'NCBI Gene PubMed Count',NULL,10758,NULL,NULL,NULL,19,NULL,NULL,NULL),(34506,'NCBI Gene PubMed Count',NULL,10759,NULL,NULL,NULL,18,NULL,NULL,NULL),(34507,'NCBI Gene PubMed Count',NULL,10760,NULL,NULL,NULL,19,NULL,NULL,NULL),(34508,'NCBI Gene Summary',NULL,10761,NULL,'This locus represents naturally occurring read-through transcription between the neighboring PMF1 (polyamine-modulated factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes on chromosome 1. Alternative splicing results in multiple transcript variants encoding isoforms that share sequence identity with the upstream gene product, but they contain distinct C-termini due to frameshifts versus the downstream gene coding sequence. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(34509,'NCBI Gene PubMed Count',NULL,10761,NULL,NULL,NULL,3,NULL,NULL,NULL),(34510,'NCBI Gene PubMed Count',NULL,10762,NULL,NULL,NULL,31,NULL,NULL,NULL),(34511,'NCBI Gene Summary',NULL,10763,NULL,'This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(34512,'NCBI Gene PubMed Count',NULL,10763,NULL,NULL,NULL,192,NULL,NULL,NULL),(34513,'NCBI Gene Summary',NULL,10764,NULL,'This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(34514,'NCBI Gene PubMed Count',NULL,10764,NULL,NULL,NULL,16,NULL,NULL,NULL),(34515,'NCBI Gene Summary',NULL,10765,NULL,'This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(34516,'NCBI Gene PubMed Count',NULL,10765,NULL,NULL,NULL,137,NULL,NULL,NULL),(34517,'NCBI Gene Summary',NULL,10766,NULL,'This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34518,'NCBI Gene PubMed Count',NULL,10766,NULL,NULL,NULL,87,NULL,NULL,NULL),(34519,'NCBI Gene Summary',NULL,10767,NULL,'This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(34520,'NCBI Gene PubMed Count',NULL,10767,NULL,NULL,NULL,44,NULL,NULL,NULL),(34521,'NCBI Gene Summary',NULL,10768,NULL,'This gene encodes the serine/threonine protein phosphatase. The mouse homolog of this gene apparently belongs to the protein phosphatase 2C family of genes. The exact function of this gene is not yet known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34522,'NCBI Gene PubMed Count',NULL,10768,NULL,NULL,NULL,8,NULL,NULL,NULL),(34523,'NCBI Gene Summary',NULL,10769,NULL,'This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(34524,'NCBI Gene PubMed Count',NULL,10769,NULL,NULL,NULL,27,NULL,NULL,NULL),(34525,'NCBI Gene PubMed Count',NULL,10770,NULL,NULL,NULL,13,NULL,NULL,NULL),(34526,'NCBI Gene Summary',NULL,10771,NULL,'This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34527,'NCBI Gene PubMed Count',NULL,10771,NULL,NULL,NULL,31,NULL,NULL,NULL),(34528,'NCBI Gene Summary',NULL,10772,NULL,'This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3\' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34529,'NCBI Gene PubMed Count',NULL,10772,NULL,NULL,NULL,15,NULL,NULL,NULL),(34530,'NCBI Gene Summary',NULL,10773,NULL,'This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor (IGF) bioavailability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(34531,'NCBI Gene PubMed Count',NULL,10773,NULL,NULL,NULL,40,NULL,NULL,NULL),(34532,'NCBI Gene Summary',NULL,10774,NULL,'The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(34533,'NCBI Gene PubMed Count',NULL,10774,NULL,NULL,NULL,141,NULL,NULL,NULL),(34534,'NCBI Gene Summary',NULL,10775,NULL,'This gene encodes a member of the G-protein coupled receptor 1 family of proteins. The encoded cell surface receptor is activated through proteolytic cleavage of its extracellular amino terminus, resulting in a new amino terminus that acts as a tethered ligand that binds to an extracellular loop domain. Activation of the receptor has been shown to stimulate vascular smooth muscle relaxation, dilate blood vessels, increase blood flow, and lower blood pressure. This protein is also important in the inflammatory response, as well as innate and adaptive immunity. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(34535,'NCBI Gene PubMed Count',NULL,10775,NULL,NULL,NULL,334,NULL,NULL,NULL),(34536,'NCBI Gene Summary',NULL,10776,NULL,'This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34537,'NCBI Gene PubMed Count',NULL,10776,NULL,NULL,NULL,838,NULL,NULL,NULL),(34538,'NCBI Gene Summary',NULL,10777,NULL,'This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(34539,'NCBI Gene PubMed Count',NULL,10777,NULL,NULL,NULL,106,NULL,NULL,NULL),(34540,'NCBI Gene Summary',NULL,10778,NULL,'This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34541,'NCBI Gene PubMed Count',NULL,10778,NULL,NULL,NULL,46,NULL,NULL,NULL),(34542,'NCBI Gene PubMed Count',NULL,10779,NULL,NULL,NULL,8,NULL,NULL,NULL),(34543,'NCBI Gene PubMed Count',NULL,10780,NULL,NULL,NULL,8,NULL,NULL,NULL),(34544,'NCBI Gene PubMed Count',NULL,10781,NULL,NULL,NULL,11,NULL,NULL,NULL),(34545,'NCBI Gene Summary',NULL,10782,NULL,'This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34546,'NCBI Gene PubMed Count',NULL,10782,NULL,NULL,NULL,24,NULL,NULL,NULL),(34547,'NCBI Gene Summary',NULL,10783,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34548,'NCBI Gene PubMed Count',NULL,10783,NULL,NULL,NULL,10,NULL,NULL,NULL),(34549,'NCBI Gene Summary',NULL,10784,NULL,'This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(34550,'NCBI Gene PubMed Count',NULL,10784,NULL,NULL,NULL,14,NULL,NULL,NULL),(34551,'NCBI Gene Summary',NULL,10785,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34552,'NCBI Gene PubMed Count',NULL,10785,NULL,NULL,NULL,9,NULL,NULL,NULL),(34553,'NCBI Gene Summary',NULL,10786,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34554,'NCBI Gene PubMed Count',NULL,10786,NULL,NULL,NULL,14,NULL,NULL,NULL),(34555,'NCBI Gene Summary',NULL,10787,NULL,'This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34556,'NCBI Gene PubMed Count',NULL,10787,NULL,NULL,NULL,73,NULL,NULL,NULL),(34557,'NCBI Gene Summary',NULL,10788,NULL,'The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(34558,'NCBI Gene PubMed Count',NULL,10788,NULL,NULL,NULL,87,NULL,NULL,NULL),(34559,'NCBI Gene PubMed Count',NULL,10789,NULL,NULL,NULL,10,NULL,NULL,NULL),(34560,'NCBI Gene Summary',NULL,10790,NULL,'This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. The protease is expressed only in the testis, placenta, and ovary. It plays a critical role in fertilization, fetoplacental growth, and embryonic development and processes multiple prohormones including pro-pituitary adenylate cyclase-activating protein and pro-insulin-like growth factor II. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(34561,'NCBI Gene PubMed Count',NULL,10790,NULL,NULL,NULL,22,NULL,NULL,NULL),(34562,'NCBI Gene Summary',NULL,10791,NULL,'This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(34563,'NCBI Gene PubMed Count',NULL,10791,NULL,NULL,NULL,9,NULL,NULL,NULL),(34564,'NCBI Gene Summary',NULL,10792,NULL,'The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(34565,'NCBI Gene PubMed Count',NULL,10792,NULL,NULL,NULL,14,NULL,NULL,NULL),(34566,'NCBI Gene PubMed Count',NULL,10793,NULL,NULL,NULL,8,NULL,NULL,NULL),(34567,'NCBI Gene Summary',NULL,10794,NULL,'This gene encodes an immune inhibitory receptor ligand that is expressed by hematopoietic and non-hematopoietic cells, such as T cells and B cells and various types of tumor cells. The encoded protein is a type I transmembrane protein that has immunoglobulin V-like and C-like domains. Interaction of this ligand with its receptor inhibits T-cell activation and cytokine production. During infection or inflammation of normal tissue, this interaction is important for preventing autoimmunity by maintaining homeostasis of the immune response. In tumor microenvironments, this interaction provides an immune escape for tumor cells through cytotoxic T-cell inactivation. Expression of this gene in tumor cells is considered to be prognostic in many types of human malignancies, including colon cancer and renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(34568,'NCBI Gene PubMed Count',NULL,10794,NULL,NULL,NULL,985,NULL,NULL,NULL),(34569,'NCBI Gene Summary',NULL,10795,NULL,'This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(34570,'NCBI Gene PubMed Count',NULL,10795,NULL,NULL,NULL,470,NULL,NULL,NULL),(34571,'NCBI Gene Summary',NULL,10796,NULL,'This gene encodes an enzyme that belongs to the 3\'5\'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5\'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(34572,'NCBI Gene PubMed Count',NULL,10796,NULL,NULL,NULL,23,NULL,NULL,NULL),(34573,'NCBI Gene PubMed Count',NULL,10797,NULL,NULL,NULL,31,NULL,NULL,NULL),(34574,'NCBI Gene PubMed Count',NULL,10798,NULL,NULL,NULL,7,NULL,NULL,NULL),(34575,'NCBI Gene Summary',NULL,10799,NULL,'This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the pentapeptide opioids Met-enkephalin and Leu-enkephalin, which are stored in synaptic vesicles, then released into the synapse where they bind to mu- and delta-opioid receptors to modulate the perception of pain. Other non-opioid cleavage products may function in distinct biological activities. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(34576,'NCBI Gene PubMed Count',NULL,10799,NULL,NULL,NULL,61,NULL,NULL,NULL),(34577,'NCBI Gene Summary',NULL,10800,NULL,'PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(34578,'NCBI Gene PubMed Count',NULL,10800,NULL,NULL,NULL,25,NULL,NULL,NULL),(34579,'NCBI Gene Summary',NULL,10801,NULL,'This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(34580,'NCBI Gene PubMed Count',NULL,10801,NULL,NULL,NULL,48,NULL,NULL,NULL),(34581,'NCBI Gene PubMed Count',NULL,10802,NULL,NULL,NULL,9,NULL,NULL,NULL),(34582,'NCBI Gene Summary',NULL,10803,NULL,'This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34583,'NCBI Gene PubMed Count',NULL,10803,NULL,NULL,NULL,24,NULL,NULL,NULL),(34584,'NCBI Gene Summary',NULL,10804,NULL,'This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(34585,'NCBI Gene PubMed Count',NULL,10804,NULL,NULL,NULL,64,NULL,NULL,NULL),(34586,'NCBI Gene Summary',NULL,10805,NULL,'The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34587,'NCBI Gene PubMed Count',NULL,10805,NULL,NULL,NULL,124,NULL,NULL,NULL),(34588,'NCBI Gene Summary',NULL,10806,NULL,'The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer\'s disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(34589,'NCBI Gene PubMed Count',NULL,10806,NULL,NULL,NULL,828,NULL,NULL,NULL),(34590,'NCBI Gene Summary',NULL,10807,NULL,'The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants have been found for this gene. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(34591,'NCBI Gene PubMed Count',NULL,10807,NULL,NULL,NULL,33,NULL,NULL,NULL),(34592,'NCBI Gene Summary',NULL,10808,NULL,'Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(34593,'NCBI Gene PubMed Count',NULL,10808,NULL,NULL,NULL,2081,NULL,NULL,NULL),(34594,'NCBI Gene Summary',NULL,10809,NULL,'This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34595,'NCBI Gene PubMed Count',NULL,10809,NULL,NULL,NULL,45,NULL,NULL,NULL),(34596,'NCBI Gene Summary',NULL,10810,NULL,'The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34597,'NCBI Gene PubMed Count',NULL,10810,NULL,NULL,NULL,105,NULL,NULL,NULL),(34598,'NCBI Gene PubMed Count',NULL,10811,NULL,NULL,NULL,13,NULL,NULL,NULL),(34599,'NCBI Gene Summary',NULL,10812,NULL,'This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(34600,'NCBI Gene PubMed Count',NULL,10812,NULL,NULL,NULL,25,NULL,NULL,NULL),(34601,'NCBI Gene Summary',NULL,10813,NULL,'This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(34602,'NCBI Gene PubMed Count',NULL,10813,NULL,NULL,NULL,44,NULL,NULL,NULL),(34603,'NCBI Gene Summary',NULL,10814,NULL,'This gene encodes a specific binding protein for a vitamin A family member and is thought to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34604,'NCBI Gene PubMed Count',NULL,10814,NULL,NULL,NULL,35,NULL,NULL,NULL),(34605,'NCBI Gene Summary',NULL,10815,NULL,'This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(34606,'NCBI Gene PubMed Count',NULL,10815,NULL,NULL,NULL,79,NULL,NULL,NULL),(34607,'NCBI Gene Summary',NULL,10816,NULL,'This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesized as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(34608,'NCBI Gene PubMed Count',NULL,10816,NULL,NULL,NULL,69,NULL,NULL,NULL),(34609,'NCBI Gene Summary',NULL,10817,NULL,'This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(34610,'NCBI Gene PubMed Count',NULL,10817,NULL,NULL,NULL,91,NULL,NULL,NULL),(34611,'NCBI Gene Summary',NULL,10818,NULL,'Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(34612,'NCBI Gene PubMed Count',NULL,10818,NULL,NULL,NULL,571,NULL,NULL,NULL),(34613,'NCBI Gene Summary',NULL,10819,NULL,'This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(34614,'NCBI Gene PubMed Count',NULL,10819,NULL,NULL,NULL,193,NULL,NULL,NULL),(34615,'NCBI Gene Summary',NULL,10820,NULL,'This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34616,'NCBI Gene PubMed Count',NULL,10820,NULL,NULL,NULL,44,NULL,NULL,NULL),(34617,'NCBI Gene Summary',NULL,10821,NULL,'This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(34618,'NCBI Gene PubMed Count',NULL,10821,NULL,NULL,NULL,47,NULL,NULL,NULL),(34619,'NCBI Gene Summary',NULL,10822,NULL,'This gene encodes a member of the prefoldin alpha subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34620,'NCBI Gene PubMed Count',NULL,10822,NULL,NULL,NULL,22,NULL,NULL,NULL),(34621,'NCBI Gene Summary',NULL,10823,NULL,'This gene encodes a member of the poly(ADP-ribose) polymerase (PARP) protein family. The encoded anti-apoptotic protein may regulate aerobic glycolysis and promote survival of cancer cells. Increased expression of this gene has been reported in a variety of tumor types. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(34622,'NCBI Gene PubMed Count',NULL,10823,NULL,NULL,NULL,21,NULL,NULL,NULL),(34623,'NCBI Gene Summary',NULL,10824,NULL,'This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(34624,'NCBI Gene PubMed Count',NULL,10824,NULL,NULL,NULL,47,NULL,NULL,NULL),(34625,'NCBI Gene Summary',NULL,10825,NULL,'This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(34626,'NCBI Gene PubMed Count',NULL,10825,NULL,NULL,NULL,40,NULL,NULL,NULL),(34627,'NCBI Gene Summary',NULL,10826,NULL,'This gene encodes a protein that is thought to function as a transcription factor. The protein is a cancer-associated antigen that can stimulate autologous T-cell responses, and it is therefore considered to be a potential immunotherapeutic target for the treatment of various hematopoietic malignancies, including diffuse large B-cell lymphoma. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(34628,'NCBI Gene PubMed Count',NULL,10826,NULL,NULL,NULL,18,NULL,NULL,NULL),(34629,'NCBI Gene Summary',NULL,10827,NULL,'This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(34630,'NCBI Gene PubMed Count',NULL,10827,NULL,NULL,NULL,86,NULL,NULL,NULL),(34631,'NCBI Gene PubMed Count',NULL,10828,NULL,NULL,NULL,19,NULL,NULL,NULL),(34632,'NCBI Gene Summary',NULL,10829,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34633,'NCBI Gene PubMed Count',NULL,10829,NULL,NULL,NULL,15,NULL,NULL,NULL),(34634,'NCBI Gene Summary',NULL,10830,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34635,'NCBI Gene PubMed Count',NULL,10830,NULL,NULL,NULL,8,NULL,NULL,NULL),(34636,'NCBI Gene Summary',NULL,10831,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34637,'NCBI Gene PubMed Count',NULL,10831,NULL,NULL,NULL,16,NULL,NULL,NULL),(34638,'NCBI Gene Summary',NULL,10832,NULL,'This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. The protein encoded by this gene lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(34639,'NCBI Gene PubMed Count',NULL,10832,NULL,NULL,NULL,16,NULL,NULL,NULL),(34640,'NCBI Gene Summary',NULL,10833,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34641,'NCBI Gene PubMed Count',NULL,10833,NULL,NULL,NULL,13,NULL,NULL,NULL),(34642,'NCBI Gene Summary',NULL,10834,NULL,'This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34643,'NCBI Gene PubMed Count',NULL,10834,NULL,NULL,NULL,26,NULL,NULL,NULL),(34644,'NCBI Gene PubMed Count',NULL,10835,NULL,NULL,NULL,13,NULL,NULL,NULL),(34645,'NCBI Gene PubMed Count',NULL,10836,NULL,NULL,NULL,20,NULL,NULL,NULL),(34646,'NCBI Gene Summary',NULL,10837,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34647,'NCBI Gene PubMed Count',NULL,10837,NULL,NULL,NULL,8,NULL,NULL,NULL),(34648,'NCBI Gene Summary',NULL,10838,NULL,'The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34649,'NCBI Gene PubMed Count',NULL,10838,NULL,NULL,NULL,22,NULL,NULL,NULL),(34650,'NCBI Gene Summary',NULL,10839,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34651,'NCBI Gene PubMed Count',NULL,10839,NULL,NULL,NULL,12,NULL,NULL,NULL),(34652,'NCBI Gene PubMed Count',NULL,10840,NULL,NULL,NULL,5,NULL,NULL,NULL),(34653,'NCBI Gene Summary',NULL,10841,NULL,'The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further processed into multiple short peptides. A polymorphism within this gene may be associated with obesity. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(34654,'NCBI Gene PubMed Count',NULL,10841,NULL,NULL,NULL,23,NULL,NULL,NULL),(34655,'NCBI Gene Summary',NULL,10842,NULL,'This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(34656,'NCBI Gene PubMed Count',NULL,10842,NULL,NULL,NULL,41,NULL,NULL,NULL),(34657,'NCBI Gene Summary',NULL,10843,NULL,'This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34658,'NCBI Gene PubMed Count',NULL,10843,NULL,NULL,NULL,86,NULL,NULL,NULL),(34659,'NCBI Gene Summary',NULL,10844,NULL,'This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(34660,'NCBI Gene PubMed Count',NULL,10844,NULL,NULL,NULL,47,NULL,NULL,NULL),(34661,'NCBI Gene Summary',NULL,10845,NULL,'This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(34662,'NCBI Gene PubMed Count',NULL,10845,NULL,NULL,NULL,25,NULL,NULL,NULL),(34663,'NCBI Gene Summary',NULL,10846,NULL,'The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(34664,'NCBI Gene PubMed Count',NULL,10846,NULL,NULL,NULL,22,NULL,NULL,NULL),(34665,'NCBI Gene Summary',NULL,10847,NULL,'Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which \'A\' is an aliphatic amino acid and \'X\' is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(34666,'NCBI Gene PubMed Count',NULL,10847,NULL,NULL,NULL,16,NULL,NULL,NULL),(34667,'NCBI Gene PubMed Count',NULL,10848,NULL,NULL,NULL,20,NULL,NULL,NULL),(34668,'NCBI Gene Summary',NULL,10849,NULL,'In Drosophila melanogaster, the \'Polycomb\' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein \'polyhomeotic\' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34669,'NCBI Gene PubMed Count',NULL,10849,NULL,NULL,NULL,26,NULL,NULL,NULL),(34670,'NCBI Gene PubMed Count',NULL,10850,NULL,NULL,NULL,18,NULL,NULL,NULL),(34671,'NCBI Gene PubMed Count',NULL,10851,NULL,NULL,NULL,4,NULL,NULL,NULL),(34672,'NCBI Gene PubMed Count',NULL,10852,NULL,NULL,NULL,9,NULL,NULL,NULL),(34673,'NCBI Gene Summary',NULL,10853,NULL,'The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(34674,'NCBI Gene PubMed Count',NULL,10853,NULL,NULL,NULL,32,NULL,NULL,NULL),(34675,'NCBI Gene PubMed Count',NULL,10854,NULL,NULL,NULL,5,NULL,NULL,NULL),(34676,'NCBI Gene PubMed Count',NULL,10855,NULL,NULL,NULL,15,NULL,NULL,NULL),(34677,'NCBI Gene Summary',NULL,10856,NULL,'Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(34678,'NCBI Gene PubMed Count',NULL,10856,NULL,NULL,NULL,19,NULL,NULL,NULL),(34679,'NCBI Gene PubMed Count',NULL,10857,NULL,NULL,NULL,1,NULL,NULL,NULL),(34680,'NCBI Gene PubMed Count',NULL,10858,NULL,NULL,NULL,32,NULL,NULL,NULL),(34681,'NCBI Gene Summary',NULL,10859,NULL,'This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34682,'NCBI Gene PubMed Count',NULL,10859,NULL,NULL,NULL,48,NULL,NULL,NULL),(34683,'NCBI Gene Summary',NULL,10860,NULL,'This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(34684,'NCBI Gene PubMed Count',NULL,10860,NULL,NULL,NULL,39,NULL,NULL,NULL),(34685,'NCBI Gene Summary',NULL,10861,NULL,'This gene encodes a member of the relaxin subfamily and insulin superfamily of peptide hormones. In humans there are three non-allelic relaxin genes. This gene encodes multiple protein isoforms, at least one of which undergoes proteolytic processing. This processing generates relaxin A and B chains that are linked by disulfide bonds to form the mature peptide hormone. This hormone plays a role in the male and female reproductive systems and was initially noted for its role in pregnancy. This protein also plays broader roles in the cardiovascular system, including in the regulation of blood pressure and control of heart rate, and data from animal models shows that this protein may have anti-fibrotic and cardioprotective effects. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(34686,'NCBI Gene PubMed Count',NULL,10861,NULL,NULL,NULL,103,NULL,NULL,NULL),(34687,'NCBI Gene PubMed Count',NULL,10862,NULL,NULL,NULL,52,NULL,NULL,NULL),(34688,'NCBI Gene PubMed Count',NULL,10863,NULL,NULL,NULL,7,NULL,NULL,NULL),(34689,'NCBI Gene Summary',NULL,10864,NULL,'The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(34690,'NCBI Gene PubMed Count',NULL,10864,NULL,NULL,NULL,103,NULL,NULL,NULL),(34691,'NCBI Gene PubMed Count',NULL,10865,NULL,NULL,NULL,10,NULL,NULL,NULL),(34692,'NCBI Gene Summary',NULL,10866,NULL,'This gene is evolutionarily conserved, and its product is proposed to play a role in human cellular senescence and tumor suppression. Antiproliferative activity is reported to be localized to the 3\' UTR, which is proposed to function as a trans-acting regulatory RNA. Several pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(34693,'NCBI Gene PubMed Count',NULL,10866,NULL,NULL,NULL,187,NULL,NULL,NULL),(34694,'NCBI Gene PubMed Count',NULL,10867,NULL,NULL,NULL,2,NULL,NULL,NULL),(34695,'NCBI Gene Summary',NULL,10868,NULL,'This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34696,'NCBI Gene PubMed Count',NULL,10868,NULL,NULL,NULL,30,NULL,NULL,NULL),(34697,'NCBI Gene Summary',NULL,10869,NULL,'This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(34698,'NCBI Gene PubMed Count',NULL,10869,NULL,NULL,NULL,39,NULL,NULL,NULL),(34699,'NCBI Gene PubMed Count',NULL,10870,NULL,NULL,NULL,16,NULL,NULL,NULL),(34700,'NCBI Gene PubMed Count',NULL,10871,NULL,NULL,NULL,15,NULL,NULL,NULL),(34701,'NCBI Gene PubMed Count',NULL,10872,NULL,NULL,NULL,9,NULL,NULL,NULL),(34702,'NCBI Gene Summary',NULL,10873,NULL,'The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(34703,'NCBI Gene PubMed Count',NULL,10873,NULL,NULL,NULL,64,NULL,NULL,NULL),(34704,'NCBI Gene Summary',NULL,10874,NULL,'This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]',NULL,NULL,NULL,NULL,NULL),(34705,'NCBI Gene PubMed Count',NULL,10874,NULL,NULL,NULL,68,NULL,NULL,NULL),(34706,'NCBI Gene Summary',NULL,10875,NULL,'This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34707,'NCBI Gene PubMed Count',NULL,10875,NULL,NULL,NULL,23,NULL,NULL,NULL),(34708,'NCBI Gene PubMed Count',NULL,10876,NULL,NULL,NULL,55,NULL,NULL,NULL),(34709,'NCBI Gene PubMed Count',NULL,10877,NULL,NULL,NULL,8,NULL,NULL,NULL),(34710,'NCBI Gene Summary',NULL,10878,NULL,'This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34711,'NCBI Gene PubMed Count',NULL,10878,NULL,NULL,NULL,76,NULL,NULL,NULL),(34712,'NCBI Gene Summary',NULL,10879,NULL,'This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(34713,'NCBI Gene PubMed Count',NULL,10879,NULL,NULL,NULL,23,NULL,NULL,NULL),(34714,'NCBI Gene Summary',NULL,10880,NULL,'The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(34715,'NCBI Gene PubMed Count',NULL,10880,NULL,NULL,NULL,7,NULL,NULL,NULL),(34716,'NCBI Gene Summary',NULL,10881,NULL,'This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(34717,'NCBI Gene PubMed Count',NULL,10881,NULL,NULL,NULL,8,NULL,NULL,NULL),(34718,'NCBI Gene PubMed Count',NULL,10882,NULL,NULL,NULL,3,NULL,NULL,NULL),(34719,'NCBI Gene Summary',NULL,10883,NULL,'This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(34720,'NCBI Gene PubMed Count',NULL,10883,NULL,NULL,NULL,60,NULL,NULL,NULL),(34721,'NCBI Gene Summary',NULL,10884,NULL,'This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(34722,'NCBI Gene PubMed Count',NULL,10884,NULL,NULL,NULL,26,NULL,NULL,NULL),(34723,'NCBI Gene Summary',NULL,10885,NULL,'This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The encoded protein is thought to function in maintenance of germline cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(34724,'NCBI Gene PubMed Count',NULL,10885,NULL,NULL,NULL,9,NULL,NULL,NULL),(34725,'NCBI Gene Summary',NULL,10886,NULL,'PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(34726,'NCBI Gene PubMed Count',NULL,10886,NULL,NULL,NULL,28,NULL,NULL,NULL),(34727,'NCBI Gene Summary',NULL,10887,NULL,'This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(34728,'NCBI Gene PubMed Count',NULL,10887,NULL,NULL,NULL,17,NULL,NULL,NULL),(34729,'NCBI Gene Summary',NULL,10888,NULL,'The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34730,'NCBI Gene PubMed Count',NULL,10888,NULL,NULL,NULL,71,NULL,NULL,NULL),(34731,'NCBI Gene PubMed Count',NULL,10889,NULL,NULL,NULL,20,NULL,NULL,NULL),(34732,'NCBI Gene PubMed Count',NULL,10890,NULL,NULL,NULL,104,NULL,NULL,NULL),(34733,'NCBI Gene Summary',NULL,10891,NULL,'This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34734,'NCBI Gene PubMed Count',NULL,10891,NULL,NULL,NULL,94,NULL,NULL,NULL),(34735,'NCBI Gene PubMed Count',NULL,10892,NULL,NULL,NULL,6,NULL,NULL,NULL),(34736,'NCBI Gene Summary',NULL,10893,NULL,'The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(34737,'NCBI Gene PubMed Count',NULL,10893,NULL,NULL,NULL,95,NULL,NULL,NULL),(34738,'NCBI Gene PubMed Count',NULL,10894,NULL,NULL,NULL,15,NULL,NULL,NULL),(34739,'NCBI Gene Summary',NULL,10895,NULL,'This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5\' to 3\' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(34740,'NCBI Gene PubMed Count',NULL,10895,NULL,NULL,NULL,77,NULL,NULL,NULL),(34741,'NCBI Gene Summary',NULL,10896,NULL,'RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(34742,'NCBI Gene PubMed Count',NULL,10896,NULL,NULL,NULL,40,NULL,NULL,NULL),(34743,'NCBI Gene PubMed Count',NULL,10897,NULL,NULL,NULL,20,NULL,NULL,NULL),(34744,'NCBI Gene Summary',NULL,10898,NULL,'The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(34745,'NCBI Gene PubMed Count',NULL,10898,NULL,NULL,NULL,30,NULL,NULL,NULL),(34746,'NCBI Gene PubMed Count',NULL,10899,NULL,NULL,NULL,4,NULL,NULL,NULL),(34747,'NCBI Gene Summary',NULL,10900,NULL,'The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(34748,'NCBI Gene PubMed Count',NULL,10900,NULL,NULL,NULL,20,NULL,NULL,NULL),(34749,'NCBI Gene PubMed Count',NULL,10901,NULL,NULL,NULL,11,NULL,NULL,NULL),(34750,'NCBI Gene Summary',NULL,10902,NULL,'This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(34751,'NCBI Gene PubMed Count',NULL,10902,NULL,NULL,NULL,18,NULL,NULL,NULL),(34752,'NCBI Gene Summary',NULL,10903,NULL,'This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(34753,'NCBI Gene PubMed Count',NULL,10903,NULL,NULL,NULL,112,NULL,NULL,NULL),(34754,'NCBI Gene Summary',NULL,10904,NULL,'This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(34755,'NCBI Gene PubMed Count',NULL,10904,NULL,NULL,NULL,69,NULL,NULL,NULL),(34756,'NCBI Gene PubMed Count',NULL,10905,NULL,NULL,NULL,6,NULL,NULL,NULL),(34757,'NCBI Gene Summary',NULL,10906,NULL,'This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(34758,'NCBI Gene PubMed Count',NULL,10906,NULL,NULL,NULL,78,NULL,NULL,NULL),(34759,'NCBI Gene Summary',NULL,10907,NULL,'This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls. This antimicrobial protein binds to murein peptidoglycans of Gram-positive bacteria. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(34760,'NCBI Gene PubMed Count',NULL,10907,NULL,NULL,NULL,21,NULL,NULL,NULL),(34761,'NCBI Gene Summary',NULL,10908,NULL,'This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34762,'NCBI Gene PubMed Count',NULL,10908,NULL,NULL,NULL,16,NULL,NULL,NULL),(34763,'NCBI Gene Summary',NULL,10909,NULL,'This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(34764,'NCBI Gene PubMed Count',NULL,10909,NULL,NULL,NULL,9,NULL,NULL,NULL),(34765,'NCBI Gene PubMed Count',NULL,10910,NULL,NULL,NULL,3,NULL,NULL,NULL),(34766,'NCBI Gene PubMed Count',NULL,10911,NULL,NULL,NULL,12,NULL,NULL,NULL),(34767,'NCBI Gene Summary',NULL,10912,NULL,'This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(34768,'NCBI Gene PubMed Count',NULL,10912,NULL,NULL,NULL,22,NULL,NULL,NULL),(34769,'NCBI Gene Summary',NULL,10913,NULL,'The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34770,'NCBI Gene PubMed Count',NULL,10913,NULL,NULL,NULL,365,NULL,NULL,NULL),(34771,'NCBI Gene Summary',NULL,10914,NULL,'PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(34772,'NCBI Gene PubMed Count',NULL,10914,NULL,NULL,NULL,152,NULL,NULL,NULL),(34773,'NCBI Gene Summary',NULL,10915,NULL,'This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(34774,'NCBI Gene PubMed Count',NULL,10915,NULL,NULL,NULL,78,NULL,NULL,NULL),(34775,'NCBI Gene Summary',NULL,10916,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34776,'NCBI Gene PubMed Count',NULL,10916,NULL,NULL,NULL,14,NULL,NULL,NULL),(34777,'NCBI Gene Summary',NULL,10917,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34778,'NCBI Gene PubMed Count',NULL,10917,NULL,NULL,NULL,9,NULL,NULL,NULL),(34779,'NCBI Gene Summary',NULL,10918,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34780,'NCBI Gene PubMed Count',NULL,10918,NULL,NULL,NULL,14,NULL,NULL,NULL),(34781,'NCBI Gene Summary',NULL,10919,NULL,'The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(34782,'NCBI Gene PubMed Count',NULL,10919,NULL,NULL,NULL,45,NULL,NULL,NULL),(34783,'NCBI Gene Summary',NULL,10920,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34784,'NCBI Gene PubMed Count',NULL,10920,NULL,NULL,NULL,9,NULL,NULL,NULL),(34785,'NCBI Gene Summary',NULL,10921,NULL,'This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(34786,'NCBI Gene PubMed Count',NULL,10921,NULL,NULL,NULL,33,NULL,NULL,NULL),(34787,'NCBI Gene Summary',NULL,10922,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34788,'NCBI Gene PubMed Count',NULL,10922,NULL,NULL,NULL,7,NULL,NULL,NULL),(34789,'NCBI Gene Summary',NULL,10923,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34790,'NCBI Gene PubMed Count',NULL,10923,NULL,NULL,NULL,8,NULL,NULL,NULL),(34791,'NCBI Gene Summary',NULL,10924,NULL,'This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34792,'NCBI Gene PubMed Count',NULL,10924,NULL,NULL,NULL,11,NULL,NULL,NULL),(34793,'NCBI Gene PubMed Count',NULL,10925,NULL,NULL,NULL,21,NULL,NULL,NULL),(34794,'NCBI Gene Summary',NULL,10926,NULL,'The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34795,'NCBI Gene PubMed Count',NULL,10926,NULL,NULL,NULL,500,NULL,NULL,NULL),(34796,'NCBI Gene PubMed Count',NULL,10927,NULL,NULL,NULL,7,NULL,NULL,NULL),(34797,'NCBI Gene Summary',NULL,10928,NULL,'This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(34798,'NCBI Gene PubMed Count',NULL,10928,NULL,NULL,NULL,32,NULL,NULL,NULL),(34799,'NCBI Gene Summary',NULL,10929,NULL,'Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34800,'NCBI Gene PubMed Count',NULL,10929,NULL,NULL,NULL,36,NULL,NULL,NULL),(34801,'NCBI Gene Summary',NULL,10930,NULL,'Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective nucleoside 5-prime monophosphates. Members of the PDE1 family, such as PDE1A, are Ca(2+)/calmodulin (see CALM1; MIM 114180)-dependent PDEs (CaM-PDEs) that are activated by calmodulin in the presence of Ca(2+) (Michibata et al., 2001 [PubMed 11342109]; Fidock et al., 2002 [PubMed 11747989]).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(34802,'NCBI Gene PubMed Count',NULL,10930,NULL,NULL,NULL,31,NULL,NULL,NULL),(34803,'NCBI Gene Summary',NULL,10931,NULL,'Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(34804,'NCBI Gene PubMed Count',NULL,10931,NULL,NULL,NULL,45,NULL,NULL,NULL),(34805,'NCBI Gene Summary',NULL,10932,NULL,'This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(34806,'NCBI Gene PubMed Count',NULL,10932,NULL,NULL,NULL,26,NULL,NULL,NULL),(34807,'NCBI Gene PubMed Count',NULL,10933,NULL,NULL,NULL,37,NULL,NULL,NULL),(34808,'NCBI Gene Summary',NULL,10934,NULL,'This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene\'s expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(34809,'NCBI Gene PubMed Count',NULL,10934,NULL,NULL,NULL,10,NULL,NULL,NULL),(34810,'NCBI Gene Summary',NULL,10935,NULL,'The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34811,'NCBI Gene PubMed Count',NULL,10935,NULL,NULL,NULL,34,NULL,NULL,NULL),(34812,'NCBI Gene PubMed Count',NULL,10936,NULL,NULL,NULL,16,NULL,NULL,NULL),(34813,'NCBI Gene Summary',NULL,10937,NULL,'This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(34814,'NCBI Gene PubMed Count',NULL,10937,NULL,NULL,NULL,290,NULL,NULL,NULL),(34815,'NCBI Gene PubMed Count',NULL,10938,NULL,NULL,NULL,5,NULL,NULL,NULL),(34816,'NCBI Gene Summary',NULL,10939,NULL,'Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(34817,'NCBI Gene PubMed Count',NULL,10939,NULL,NULL,NULL,62,NULL,NULL,NULL),(34818,'NCBI Gene PubMed Count',NULL,10940,NULL,NULL,NULL,9,NULL,NULL,NULL),(34819,'NCBI Gene Summary',NULL,10941,NULL,'SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(34820,'NCBI Gene PubMed Count',NULL,10941,NULL,NULL,NULL,13,NULL,NULL,NULL),(34821,'NCBI Gene Summary',NULL,10942,NULL,'This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(34822,'NCBI Gene PubMed Count',NULL,10942,NULL,NULL,NULL,3,NULL,NULL,NULL),(34823,'NCBI Gene PubMed Count',NULL,10943,NULL,NULL,NULL,3,NULL,NULL,NULL),(34824,'NCBI Gene PubMed Count',NULL,10944,NULL,NULL,NULL,8,NULL,NULL,NULL),(34825,'NCBI Gene Summary',NULL,10945,NULL,'This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(34826,'NCBI Gene PubMed Count',NULL,10945,NULL,NULL,NULL,17,NULL,NULL,NULL),(34827,'NCBI Gene Summary',NULL,10946,NULL,'This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of \'A\' (encoded by this gene) and \'B\' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34828,'NCBI Gene PubMed Count',NULL,10946,NULL,NULL,NULL,280,NULL,NULL,NULL),(34829,'NCBI Gene Summary',NULL,10947,NULL,'This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(34830,'NCBI Gene PubMed Count',NULL,10947,NULL,NULL,NULL,43,NULL,NULL,NULL),(34831,'NCBI Gene PubMed Count',NULL,10948,NULL,NULL,NULL,12,NULL,NULL,NULL),(34832,'NCBI Gene Summary',NULL,10949,NULL,'The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34833,'NCBI Gene PubMed Count',NULL,10949,NULL,NULL,NULL,18,NULL,NULL,NULL),(34834,'NCBI Gene Summary',NULL,10950,NULL,'The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34835,'NCBI Gene PubMed Count',NULL,10950,NULL,NULL,NULL,17,NULL,NULL,NULL),(34836,'NCBI Gene Summary',NULL,10951,NULL,'This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(34837,'NCBI Gene PubMed Count',NULL,10951,NULL,NULL,NULL,26,NULL,NULL,NULL),(34838,'NCBI Gene PubMed Count',NULL,10952,NULL,NULL,NULL,10,NULL,NULL,NULL),(34839,'NCBI Gene Summary',NULL,10953,NULL,'The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(34840,'NCBI Gene PubMed Count',NULL,10953,NULL,NULL,NULL,20,NULL,NULL,NULL),(34841,'NCBI Gene Summary',NULL,10954,NULL,'The protein encoded by this gene has been termed a \'growth\' or \'plasticity\' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34842,'NCBI Gene PubMed Count',NULL,10954,NULL,NULL,NULL,62,NULL,NULL,NULL),(34843,'NCBI Gene Summary',NULL,10955,NULL,'An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(34844,'NCBI Gene PubMed Count',NULL,10955,NULL,NULL,NULL,15,NULL,NULL,NULL),(34845,'NCBI Gene Summary',NULL,10956,NULL,'The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(34846,'NCBI Gene PubMed Count',NULL,10956,NULL,NULL,NULL,284,NULL,NULL,NULL),(34847,'NCBI Gene PubMed Count',NULL,10957,NULL,NULL,NULL,16,NULL,NULL,NULL),(34848,'NCBI Gene Summary',NULL,10958,NULL,'This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34849,'NCBI Gene PubMed Count',NULL,10958,NULL,NULL,NULL,30,NULL,NULL,NULL),(34850,'NCBI Gene Summary',NULL,10959,NULL,'This gene encodes a type I single transmembrane domain receptor, which is a subunit of cis-prenyltransferase, and serves as a specific receptor for the neural and cardiovascular regulator Nogo-B. The encoded protein is essential for dolichol synthesis and protein glycosylation. This gene is highly expressed in non-small cell lung carcinomas as well as estrogen receptor-alpha positive breast cancer cells where it promotes epithelial mesenchymal transition. This gene is associated with the poor prognosis of human hepatocellular carcinoma patients. Naturally occurring mutations in this gene cause a congenital disorder of glycosylation and are associated with epilepsy. A knockout of the orthologous gene in mice causes embryonic lethality before day 6.5. Pseudogenes of this gene have been defined on chromosomes 13 and X. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(34851,'NCBI Gene PubMed Count',NULL,10959,NULL,NULL,NULL,24,NULL,NULL,NULL),(34852,'NCBI Gene Summary',NULL,10960,NULL,'This gene encodes an oxygen-binding protein that is distantly related to members of the globin gene family. It is highly conserved among other vertebrates. It is expressed in the central and peripheral nervous system where it may be involved in increasing oxygen availability and providing protection under hypoxic/ischemic conditions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34853,'NCBI Gene PubMed Count',NULL,10960,NULL,NULL,NULL,88,NULL,NULL,NULL),(34854,'NCBI Gene Summary',NULL,10961,NULL,'This gene belongs to a family of genes that function as receptors for tachykinins.  Receptor affinities are specified by variations in the 5\'-end of the sequence.  The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions.  This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34855,'NCBI Gene PubMed Count',NULL,10961,NULL,NULL,NULL,55,NULL,NULL,NULL),(34856,'NCBI Gene PubMed Count',NULL,10962,NULL,NULL,NULL,2,NULL,NULL,NULL),(34857,'NCBI Gene PubMed Count',NULL,10963,NULL,NULL,NULL,17,NULL,NULL,NULL),(34858,'NCBI Gene Summary',NULL,10964,NULL,'The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(34859,'NCBI Gene PubMed Count',NULL,10964,NULL,NULL,NULL,25,NULL,NULL,NULL),(34860,'NCBI Gene Summary',NULL,10965,NULL,'This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(34861,'NCBI Gene PubMed Count',NULL,10965,NULL,NULL,NULL,208,NULL,NULL,NULL),(34862,'NCBI Gene PubMed Count',NULL,10966,NULL,NULL,NULL,11,NULL,NULL,NULL),(34863,'NCBI Gene Summary',NULL,10967,NULL,'This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34864,'NCBI Gene PubMed Count',NULL,10967,NULL,NULL,NULL,38,NULL,NULL,NULL),(34865,'NCBI Gene Summary',NULL,10968,NULL,'The protein encoded by this gene appears to be multifunctional. Along with PCBP-1 and hnRNPK, it is one of the major cellular poly(rC)-binding proteins. The encoded protein contains three K-homologous (KH) domains which may be involved in RNA binding. Together with PCBP-1, this protein also functions as a translational coactivator of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES, promoting poliovirus RNA replication by binding to its 5\'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. This multiexon structural mRNA is thought to be retrotransposed to generate PCBP-1, an intronless gene with functions similar to that of PCBP2. This gene and PCBP-1 have paralogous genes (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. This gene also has two processed pseudogenes (PCBP2P1 and PCBP2P2). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2018]',NULL,NULL,NULL,NULL,NULL),(34866,'NCBI Gene PubMed Count',NULL,10968,NULL,NULL,NULL,87,NULL,NULL,NULL),(34867,'NCBI Gene Summary',NULL,10969,NULL,'This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34868,'NCBI Gene PubMed Count',NULL,10969,NULL,NULL,NULL,8,NULL,NULL,NULL),(34869,'NCBI Gene Summary',NULL,10970,NULL,'This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene is induced by the p53 tumor suppressor, and the encoded protein can suppress cell proliferation by inducing apoptosis and cell cycle arrest in G(2)-M. This gene\'s protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple alternatively spliced transcript variants have been described, but the full-length nature for only some has been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34870,'NCBI Gene PubMed Count',NULL,10970,NULL,NULL,NULL,20,NULL,NULL,NULL),(34871,'NCBI Gene Summary',NULL,10971,NULL,'This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3\' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34872,'NCBI Gene PubMed Count',NULL,10971,NULL,NULL,NULL,14,NULL,NULL,NULL),(34873,'NCBI Gene Summary',NULL,10972,NULL,'This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34874,'NCBI Gene PubMed Count',NULL,10972,NULL,NULL,NULL,12,NULL,NULL,NULL),(34875,'NCBI Gene PubMed Count',NULL,10973,NULL,NULL,NULL,41,NULL,NULL,NULL),(34876,'NCBI Gene Summary',NULL,10974,NULL,'This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(34877,'NCBI Gene PubMed Count',NULL,10974,NULL,NULL,NULL,18,NULL,NULL,NULL),(34878,'NCBI Gene Summary',NULL,10975,NULL,'The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(34879,'NCBI Gene PubMed Count',NULL,10975,NULL,NULL,NULL,41,NULL,NULL,NULL),(34880,'NCBI Gene PubMed Count',NULL,10976,NULL,NULL,NULL,9,NULL,NULL,NULL),(34881,'NCBI Gene Summary',NULL,10977,NULL,'Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(34882,'NCBI Gene PubMed Count',NULL,10977,NULL,NULL,NULL,17,NULL,NULL,NULL),(34883,'NCBI Gene Summary',NULL,10978,NULL,'This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(34884,'NCBI Gene PubMed Count',NULL,10978,NULL,NULL,NULL,27,NULL,NULL,NULL),(34885,'NCBI Gene Summary',NULL,10979,NULL,'This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(34886,'NCBI Gene PubMed Count',NULL,10979,NULL,NULL,NULL,15,NULL,NULL,NULL),(34887,'NCBI Gene Summary',NULL,10980,NULL,'The 3\',5\'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3\',5\'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5\'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(34888,'NCBI Gene PubMed Count',NULL,10980,NULL,NULL,NULL,22,NULL,NULL,NULL),(34889,'NCBI Gene Summary',NULL,10981,NULL,'The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(34890,'NCBI Gene PubMed Count',NULL,10981,NULL,NULL,NULL,24,NULL,NULL,NULL),(34891,'NCBI Gene Summary',NULL,10982,NULL,'This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. The protein plays a role in the folding of nascent proteins in the endoplasmic reticulum by forming disulfide bonds through its thiol isomerase, oxidase, and reductase activity. The encoded protein also possesses estradiol-binding activity and can modulate intracellular estradiol levels. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(34892,'NCBI Gene PubMed Count',NULL,10982,NULL,NULL,NULL,66,NULL,NULL,NULL),(34893,'NCBI Gene Summary',NULL,10983,NULL,'This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(34894,'NCBI Gene PubMed Count',NULL,10983,NULL,NULL,NULL,227,NULL,NULL,NULL),(34895,'NCBI Gene Summary',NULL,10984,NULL,'This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(34896,'NCBI Gene PubMed Count',NULL,10984,NULL,NULL,NULL,34,NULL,NULL,NULL),(34897,'NCBI Gene Summary',NULL,10985,NULL,'This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34898,'NCBI Gene PubMed Count',NULL,10985,NULL,NULL,NULL,5,NULL,NULL,NULL),(34899,'NCBI Gene Summary',NULL,10986,NULL,'This gene encodes a member of the regenerating islet-derived genes (REG)3 protein family. These proteins are secreted, C-type lectins with a carbohydrate recognition domain and N-terminal signal peptide. The protein encoded by this gene is an antimicrobial lectin with activity against Gram-positive bacteria. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(34900,'NCBI Gene PubMed Count',NULL,10986,NULL,NULL,NULL,11,NULL,NULL,NULL),(34901,'NCBI Gene Summary',NULL,10987,NULL,'The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(34902,'NCBI Gene PubMed Count',NULL,10987,NULL,NULL,NULL,14,NULL,NULL,NULL),(34903,'NCBI Gene Summary',NULL,10988,NULL,'This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The nucleoprotein complex protects the single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. This subunit contains four oligonucleotide/oligosaccharide-binding (OB) domains, though the majority of ssDNA binding occurs in two of these domains. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which ssDNA binding domains are utilized. The different binding modes differ in the length of DNA bound and in the proteins with which it interacts, thereby playing a role in regulating different genomic maintenance pathways. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(34904,'NCBI Gene PubMed Count',NULL,10988,NULL,NULL,NULL,207,NULL,NULL,NULL),(34905,'NCBI Gene Summary',NULL,10989,NULL,'This oncogene encodes a protein similar to guanine nucleotide exchange factor Ral guanine dissociation stimulator. Increased expression of this gene leads to translocation of the encoded protein to the cell membrane. The encoded protein can activate several pathways, including the Ras-Raf-MEK-ERK cascade. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(34906,'NCBI Gene PubMed Count',NULL,10989,NULL,NULL,NULL,6,NULL,NULL,NULL),(34907,'NCBI Gene Summary',NULL,10990,NULL,'Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34908,'NCBI Gene PubMed Count',NULL,10990,NULL,NULL,NULL,21,NULL,NULL,NULL),(34909,'NCBI Gene PubMed Count',NULL,10991,NULL,NULL,NULL,7,NULL,NULL,NULL),(34910,'NCBI Gene PubMed Count',NULL,10992,NULL,NULL,NULL,6,NULL,NULL,NULL),(34911,'NCBI Gene Summary',NULL,10993,NULL,'The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(34912,'NCBI Gene PubMed Count',NULL,10993,NULL,NULL,NULL,44,NULL,NULL,NULL),(34913,'NCBI Gene Summary',NULL,10994,NULL,'Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(34914,'NCBI Gene PubMed Count',NULL,10994,NULL,NULL,NULL,11,NULL,NULL,NULL),(34915,'NCBI Gene PubMed Count',NULL,10995,NULL,NULL,NULL,15,NULL,NULL,NULL),(34916,'NCBI Gene Summary',NULL,10996,NULL,'The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34917,'NCBI Gene PubMed Count',NULL,10996,NULL,NULL,NULL,155,NULL,NULL,NULL),(34918,'NCBI Gene Summary',NULL,10997,NULL,'The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(34919,'NCBI Gene PubMed Count',NULL,10997,NULL,NULL,NULL,8,NULL,NULL,NULL),(34920,'NCBI Gene Summary',NULL,10998,NULL,'This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(34921,'NCBI Gene PubMed Count',NULL,10998,NULL,NULL,NULL,9,NULL,NULL,NULL),(34922,'NCBI Gene PubMed Count',NULL,10999,NULL,NULL,NULL,34,NULL,NULL,NULL),(34923,'NCBI Gene PubMed Count',NULL,11000,NULL,NULL,NULL,7,NULL,NULL,NULL),(34924,'NCBI Gene Summary',NULL,11001,NULL,'The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34925,'NCBI Gene PubMed Count',NULL,11001,NULL,NULL,NULL,37,NULL,NULL,NULL),(34926,'NCBI Gene Summary',NULL,11002,NULL,'This gene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression of this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including that as an adipokine and as an antimicrobial protein with activity against bacteria and fungi. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(34927,'NCBI Gene PubMed Count',NULL,11002,NULL,NULL,NULL,166,NULL,NULL,NULL),(34928,'NCBI Gene Summary',NULL,11003,NULL,'The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(34929,'NCBI Gene PubMed Count',NULL,11003,NULL,NULL,NULL,137,NULL,NULL,NULL),(34930,'NCBI Gene PubMed Count',NULL,11004,NULL,NULL,NULL,18,NULL,NULL,NULL),(34931,'NCBI Gene Summary',NULL,11005,NULL,'The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this gene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34932,'NCBI Gene PubMed Count',NULL,11005,NULL,NULL,NULL,16,NULL,NULL,NULL),(34933,'NCBI Gene Summary',NULL,11006,NULL,'This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(34934,'NCBI Gene PubMed Count',NULL,11006,NULL,NULL,NULL,21,NULL,NULL,NULL),(34935,'NCBI Gene PubMed Count',NULL,11008,NULL,NULL,NULL,16,NULL,NULL,NULL),(34936,'NCBI Gene PubMed Count',NULL,11009,NULL,NULL,NULL,10,NULL,NULL,NULL),(34937,'NCBI Gene Summary',NULL,11010,NULL,'This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34938,'NCBI Gene PubMed Count',NULL,11010,NULL,NULL,NULL,51,NULL,NULL,NULL),(34939,'NCBI Gene Summary',NULL,11011,NULL,'This gene encodes a member of the repulsive guidance molecule family. The encoded protein is a glycosylphosphatidylinositol-anchored glycoprotein that functions as an axon guidance protein in the developing and adult central nervous system. This protein may also function as a tumor suppressor in some cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(34940,'NCBI Gene PubMed Count',NULL,11011,NULL,NULL,NULL,40,NULL,NULL,NULL),(34941,'NCBI Gene PubMed Count',NULL,11012,NULL,NULL,NULL,19,NULL,NULL,NULL),(34942,'NCBI Gene Summary',NULL,11013,NULL,'This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(34943,'NCBI Gene PubMed Count',NULL,11013,NULL,NULL,NULL,95,NULL,NULL,NULL),(34944,'NCBI Gene Summary',NULL,11014,NULL,'This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34945,'NCBI Gene PubMed Count',NULL,11014,NULL,NULL,NULL,127,NULL,NULL,NULL),(34946,'NCBI Gene Summary',NULL,11015,NULL,'This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(34947,'NCBI Gene PubMed Count',NULL,11015,NULL,NULL,NULL,35,NULL,NULL,NULL),(34948,'NCBI Gene PubMed Count',NULL,11016,NULL,NULL,NULL,40,NULL,NULL,NULL),(34949,'NCBI Gene PubMed Count',NULL,11017,NULL,NULL,NULL,1,NULL,NULL,NULL),(34950,'NCBI Gene Summary',NULL,11018,NULL,'This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34951,'NCBI Gene PubMed Count',NULL,11018,NULL,NULL,NULL,88,NULL,NULL,NULL),(34952,'NCBI Gene Summary',NULL,11019,NULL,'The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. Its function is unknown. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34953,'NCBI Gene PubMed Count',NULL,11019,NULL,NULL,NULL,25,NULL,NULL,NULL),(34954,'NCBI Gene PubMed Count',NULL,11020,NULL,NULL,NULL,10,NULL,NULL,NULL),(34955,'NCBI Gene PubMed Count',NULL,11021,NULL,NULL,NULL,12,NULL,NULL,NULL),(34956,'NCBI Gene Summary',NULL,11022,NULL,'The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(34957,'NCBI Gene PubMed Count',NULL,11022,NULL,NULL,NULL,77,NULL,NULL,NULL),(34958,'NCBI Gene PubMed Count',NULL,11023,NULL,NULL,NULL,20,NULL,NULL,NULL),(34959,'NCBI Gene PubMed Count',NULL,11024,NULL,NULL,NULL,39,NULL,NULL,NULL),(34960,'NCBI Gene Summary',NULL,11025,NULL,'The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(34961,'NCBI Gene PubMed Count',NULL,11025,NULL,NULL,NULL,24,NULL,NULL,NULL),(34962,'NCBI Gene Summary',NULL,11026,NULL,'This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(34963,'NCBI Gene PubMed Count',NULL,11026,NULL,NULL,NULL,52,NULL,NULL,NULL),(34964,'NCBI Gene Summary',NULL,11027,NULL,'This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34965,'NCBI Gene PubMed Count',NULL,11027,NULL,NULL,NULL,26,NULL,NULL,NULL),(34966,'NCBI Gene Summary',NULL,11028,NULL,'The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(34967,'NCBI Gene PubMed Count',NULL,11028,NULL,NULL,NULL,60,NULL,NULL,NULL),(34968,'NCBI Gene PubMed Count',NULL,11029,NULL,NULL,NULL,3,NULL,NULL,NULL),(34969,'NCBI Gene Summary',NULL,11030,NULL,'This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 664 (Gene ID: 144348) and refilin A (Gene ID: 144347) genes on chromosome 12. The read-through transcript produces a protein that shares sequence identity with the downstream refilin A gene product. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(34970,'NCBI Gene PubMed Count',NULL,11030,NULL,NULL,NULL,13,NULL,NULL,NULL),(34971,'NCBI Gene Summary',NULL,11031,NULL,'The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34972,'NCBI Gene PubMed Count',NULL,11031,NULL,NULL,NULL,47,NULL,NULL,NULL),(34973,'NCBI Gene Summary',NULL,11032,NULL,'This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3\' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(34974,'NCBI Gene PubMed Count',NULL,11032,NULL,NULL,NULL,65,NULL,NULL,NULL),(34975,'NCBI Gene PubMed Count',NULL,11033,NULL,NULL,NULL,6,NULL,NULL,NULL),(34976,'NCBI Gene PubMed Count',NULL,11034,NULL,NULL,NULL,0,NULL,NULL,NULL),(34977,'NCBI Gene PubMed Count',NULL,11035,NULL,NULL,NULL,10,NULL,NULL,NULL),(34978,'NCBI Gene Summary',NULL,11036,NULL,'The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(34979,'NCBI Gene PubMed Count',NULL,11036,NULL,NULL,NULL,18,NULL,NULL,NULL),(34980,'NCBI Gene Summary',NULL,11037,NULL,'The protein encoded by this gene belongs to the \'regulator of G protein signaling\' family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34981,'NCBI Gene PubMed Count',NULL,11037,NULL,NULL,NULL,40,NULL,NULL,NULL),(34982,'NCBI Gene PubMed Count',NULL,11038,NULL,NULL,NULL,6,NULL,NULL,NULL),(34983,'NCBI Gene Summary',NULL,11039,NULL,'RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(34984,'NCBI Gene PubMed Count',NULL,11039,NULL,NULL,NULL,18,NULL,NULL,NULL),(34985,'NCBI Gene Summary',NULL,11040,NULL,'ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(34986,'NCBI Gene PubMed Count',NULL,11040,NULL,NULL,NULL,24,NULL,NULL,NULL),(34987,'NCBI Gene Summary',NULL,11041,NULL,'This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(34988,'NCBI Gene PubMed Count',NULL,11041,NULL,NULL,NULL,32,NULL,NULL,NULL),(34989,'NCBI Gene Summary',NULL,11042,NULL,'Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(34990,'NCBI Gene PubMed Count',NULL,11042,NULL,NULL,NULL,31,NULL,NULL,NULL),(34991,'NCBI Gene Summary',NULL,11043,NULL,'This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34992,'NCBI Gene PubMed Count',NULL,11043,NULL,NULL,NULL,21,NULL,NULL,NULL),(34993,'NCBI Gene Summary',NULL,11044,NULL,'RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(34994,'NCBI Gene PubMed Count',NULL,11044,NULL,NULL,NULL,22,NULL,NULL,NULL),(34995,'NCBI Gene PubMed Count',NULL,11045,NULL,NULL,NULL,11,NULL,NULL,NULL),(34996,'NCBI Gene Summary',NULL,11046,NULL,'The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(34997,'NCBI Gene PubMed Count',NULL,11046,NULL,NULL,NULL,70,NULL,NULL,NULL),(34998,'NCBI Gene Summary',NULL,11047,NULL,'The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(34999,'NCBI Gene PubMed Count',NULL,11047,NULL,NULL,NULL,11,NULL,NULL,NULL),(35000,'NCBI Gene PubMed Count',NULL,11048,NULL,NULL,NULL,17,NULL,NULL,NULL),(35001,'NCBI Gene Summary',NULL,11049,NULL,'A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35002,'NCBI Gene PubMed Count',NULL,11049,NULL,NULL,NULL,33,NULL,NULL,NULL),(35003,'NCBI Gene Summary',NULL,11050,NULL,'This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35004,'NCBI Gene PubMed Count',NULL,11050,NULL,NULL,NULL,37,NULL,NULL,NULL),(35005,'NCBI Gene PubMed Count',NULL,11051,NULL,NULL,NULL,10,NULL,NULL,NULL),(35006,'NCBI Gene Summary',NULL,11052,NULL,'This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35007,'NCBI Gene PubMed Count',NULL,11052,NULL,NULL,NULL,18,NULL,NULL,NULL),(35008,'NCBI Gene Summary',NULL,11053,NULL,'G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35009,'NCBI Gene PubMed Count',NULL,11053,NULL,NULL,NULL,31,NULL,NULL,NULL),(35010,'NCBI Gene PubMed Count',NULL,11054,NULL,NULL,NULL,13,NULL,NULL,NULL),(35011,'NCBI Gene Summary',NULL,11055,NULL,'The protein encoded by this gene belongs to the family of regulator of G protein signaling (RGS) proteins, which are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins inhibit signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound forms. This protein selectively binds to G(z)-alpha and G(alpha)-i2 subunits, and regulates their signaling activities. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(35012,'NCBI Gene PubMed Count',NULL,11055,NULL,NULL,NULL,26,NULL,NULL,NULL),(35013,'NCBI Gene Summary',NULL,11056,NULL,'This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(35014,'NCBI Gene PubMed Count',NULL,11056,NULL,NULL,NULL,47,NULL,NULL,NULL),(35015,'NCBI Gene Summary',NULL,11057,NULL,'The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(35016,'NCBI Gene PubMed Count',NULL,11057,NULL,NULL,NULL,17,NULL,NULL,NULL),(35017,'NCBI Gene Summary',NULL,11058,NULL,'The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(35018,'NCBI Gene PubMed Count',NULL,11058,NULL,NULL,NULL,13,NULL,NULL,NULL),(35019,'NCBI Gene Summary',NULL,11059,NULL,'This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35020,'NCBI Gene PubMed Count',NULL,11059,NULL,NULL,NULL,104,NULL,NULL,NULL),(35021,'NCBI Gene PubMed Count',NULL,11060,NULL,NULL,NULL,10,NULL,NULL,NULL),(35022,'NCBI Gene Summary',NULL,11061,NULL,'Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(35023,'NCBI Gene PubMed Count',NULL,11061,NULL,NULL,NULL,23,NULL,NULL,NULL),(35024,'NCBI Gene Summary',NULL,11062,NULL,'This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35025,'NCBI Gene PubMed Count',NULL,11062,NULL,NULL,NULL,15,NULL,NULL,NULL),(35026,'NCBI Gene PubMed Count',NULL,11063,NULL,NULL,NULL,12,NULL,NULL,NULL),(35027,'NCBI Gene Summary',NULL,11064,NULL,'The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35028,'NCBI Gene PubMed Count',NULL,11064,NULL,NULL,NULL,46,NULL,NULL,NULL),(35029,'NCBI Gene Summary',NULL,11065,NULL,'This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The protein encoded by this gene is prenylated at its C-terminus, and localizes to the cytoplasm and plasma membrane. It is thought to be important in cell locomotion. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35030,'NCBI Gene PubMed Count',NULL,11065,NULL,NULL,NULL,149,NULL,NULL,NULL),(35031,'NCBI Gene Summary',NULL,11066,NULL,'Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(35032,'NCBI Gene PubMed Count',NULL,11066,NULL,NULL,NULL,41,NULL,NULL,NULL),(35033,'NCBI Gene Summary',NULL,11067,NULL,'The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkin\'s lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5\' untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(35034,'NCBI Gene PubMed Count',NULL,11067,NULL,NULL,NULL,45,NULL,NULL,NULL),(35035,'NCBI Gene Summary',NULL,11068,NULL,'This gene encodes one of the many small GTP-binding proteins in the Rho family shown to be associated with focal adhesions in endothelial cells (PMID: 21148427, 22103495). The encoded protein is activated by vascular endothelial growth factor and may regulate angiogenesis. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(35036,'NCBI Gene PubMed Count',NULL,11068,NULL,NULL,NULL,26,NULL,NULL,NULL),(35037,'NCBI Gene Summary',NULL,11069,NULL,'This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(35038,'NCBI Gene PubMed Count',NULL,11069,NULL,NULL,NULL,30,NULL,NULL,NULL),(35039,'NCBI Gene PubMed Count',NULL,11070,NULL,NULL,NULL,16,NULL,NULL,NULL),(35040,'NCBI Gene Summary',NULL,11071,NULL,'This gene encodes the smallest subunit of the replication factor C complex, which consists of five distinct subunits (140, 40, 38, 37, and 36 kDa) and is required for DNA replication. This subunit interacts with the C-terminal region of proliferating cell nuclear antigen and is required to open and load proliferating cell nuclear antigen onto DNA during S phase. It is a member of the AAA+ (ATPases associated with various cellular activities) ATPase family and forms a core complex with the 38 and 40 kDa subunits that possesses DNA-dependent ATPase activity. A related pseudogene has been identified on chromosome 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(35041,'NCBI Gene PubMed Count',NULL,11071,NULL,NULL,NULL,48,NULL,NULL,NULL),(35042,'NCBI Gene PubMed Count',NULL,11072,NULL,NULL,NULL,9,NULL,NULL,NULL),(35043,'NCBI Gene PubMed Count',NULL,11073,NULL,NULL,NULL,12,NULL,NULL,NULL),(35044,'NCBI Gene PubMed Count',NULL,11074,NULL,NULL,NULL,10,NULL,NULL,NULL),(35045,'NCBI Gene Summary',NULL,11075,NULL,'This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35046,'NCBI Gene PubMed Count',NULL,11075,NULL,NULL,NULL,47,NULL,NULL,NULL),(35047,'NCBI Gene PubMed Count',NULL,11076,NULL,NULL,NULL,9,NULL,NULL,NULL),(35048,'NCBI Gene Summary',NULL,11077,NULL,'This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(35049,'NCBI Gene PubMed Count',NULL,11077,NULL,NULL,NULL,27,NULL,NULL,NULL),(35050,'NCBI Gene Summary',NULL,11078,NULL,'This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(35051,'NCBI Gene PubMed Count',NULL,11078,NULL,NULL,NULL,46,NULL,NULL,NULL),(35052,'NCBI Gene PubMed Count',NULL,11079,NULL,NULL,NULL,7,NULL,NULL,NULL),(35053,'NCBI Gene Summary',NULL,11080,NULL,'This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(35054,'NCBI Gene PubMed Count',NULL,11080,NULL,NULL,NULL,39,NULL,NULL,NULL),(35055,'NCBI Gene PubMed Count',NULL,11081,NULL,NULL,NULL,1,NULL,NULL,NULL),(35056,'NCBI Gene Summary',NULL,11082,NULL,'This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(35057,'NCBI Gene PubMed Count',NULL,11082,NULL,NULL,NULL,27,NULL,NULL,NULL),(35058,'NCBI Gene PubMed Count',NULL,11083,NULL,NULL,NULL,9,NULL,NULL,NULL),(35059,'NCBI Gene PubMed Count',NULL,11084,NULL,NULL,NULL,6,NULL,NULL,NULL),(35060,'NCBI Gene Summary',NULL,11085,NULL,'Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(35061,'NCBI Gene PubMed Count',NULL,11085,NULL,NULL,NULL,20,NULL,NULL,NULL),(35062,'NCBI Gene Summary',NULL,11086,NULL,'Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(35063,'NCBI Gene PubMed Count',NULL,11086,NULL,NULL,NULL,33,NULL,NULL,NULL),(35064,'NCBI Gene Summary',NULL,11087,NULL,'This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35065,'NCBI Gene PubMed Count',NULL,11087,NULL,NULL,NULL,22,NULL,NULL,NULL),(35066,'NCBI Gene Summary',NULL,11088,NULL,'The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role in aging, as it shows age-associated down-regulation. This gene is part of a gene cluster on chromosome Xp11.3-Xp11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(35067,'NCBI Gene PubMed Count',NULL,11088,NULL,NULL,NULL,56,NULL,NULL,NULL),(35068,'NCBI Gene Summary',NULL,11089,NULL,'RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(35069,'NCBI Gene PubMed Count',NULL,11089,NULL,NULL,NULL,31,NULL,NULL,NULL),(35070,'NCBI Gene PubMed Count',NULL,11090,NULL,NULL,NULL,22,NULL,NULL,NULL),(35071,'NCBI Gene Summary',NULL,11091,NULL,'ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(35072,'NCBI Gene PubMed Count',NULL,11091,NULL,NULL,NULL,8,NULL,NULL,NULL),(35073,'NCBI Gene Summary',NULL,11092,NULL,'This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(35074,'NCBI Gene PubMed Count',NULL,11092,NULL,NULL,NULL,23,NULL,NULL,NULL),(35075,'NCBI Gene Summary',NULL,11093,NULL,'This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(35076,'NCBI Gene PubMed Count',NULL,11093,NULL,NULL,NULL,38,NULL,NULL,NULL),(35077,'NCBI Gene Summary',NULL,11094,NULL,'MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008]',NULL,NULL,NULL,NULL,NULL),(35078,'NCBI Gene PubMed Count',NULL,11094,NULL,NULL,NULL,36,NULL,NULL,NULL),(35079,'NCBI Gene Summary',NULL,11095,NULL,'This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein plays a role in inflammation and cell death in response to tissue damage, pathogen recognition, and as part of developmental regulation. RIPK1/RIPK3 kinase-mediated necrosis is referred to as necroptosis. Genetic disruption of this gene in mice results in death shortly after birth. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(35080,'NCBI Gene PubMed Count',NULL,11095,NULL,NULL,NULL,249,NULL,NULL,NULL),(35081,'NCBI Gene Summary',NULL,11096,NULL,'Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(35082,'NCBI Gene PubMed Count',NULL,11096,NULL,NULL,NULL,43,NULL,NULL,NULL),(35083,'NCBI Gene Summary',NULL,11097,NULL,'The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(35084,'NCBI Gene PubMed Count',NULL,11097,NULL,NULL,NULL,39,NULL,NULL,NULL),(35085,'NCBI Gene PubMed Count',NULL,11098,NULL,NULL,NULL,18,NULL,NULL,NULL),(35086,'NCBI Gene Summary',NULL,11099,NULL,'The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(35087,'NCBI Gene PubMed Count',NULL,11099,NULL,NULL,NULL,91,NULL,NULL,NULL),(35088,'NCBI Gene Summary',NULL,11100,NULL,'The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(35089,'NCBI Gene PubMed Count',NULL,11100,NULL,NULL,NULL,51,NULL,NULL,NULL),(35090,'NCBI Gene PubMed Count',NULL,11101,NULL,NULL,NULL,14,NULL,NULL,NULL),(35091,'NCBI Gene PubMed Count',NULL,11102,NULL,NULL,NULL,28,NULL,NULL,NULL),(35092,'NCBI Gene PubMed Count',NULL,11103,NULL,NULL,NULL,12,NULL,NULL,NULL),(35093,'NCBI Gene Summary',NULL,11104,NULL,'This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(35094,'NCBI Gene PubMed Count',NULL,11104,NULL,NULL,NULL,36,NULL,NULL,NULL),(35095,'NCBI Gene PubMed Count',NULL,11105,NULL,NULL,NULL,7,NULL,NULL,NULL),(35096,'NCBI Gene Summary',NULL,11106,NULL,'This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35097,'NCBI Gene PubMed Count',NULL,11106,NULL,NULL,NULL,27,NULL,NULL,NULL),(35098,'NCBI Gene PubMed Count',NULL,11107,NULL,NULL,NULL,5,NULL,NULL,NULL),(35099,'NCBI Gene Summary',NULL,11108,NULL,'Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(35100,'NCBI Gene PubMed Count',NULL,11108,NULL,NULL,NULL,134,NULL,NULL,NULL),(35101,'NCBI Gene Summary',NULL,11109,NULL,'This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35102,'NCBI Gene PubMed Count',NULL,11109,NULL,NULL,NULL,21,NULL,NULL,NULL),(35103,'NCBI Gene Summary',NULL,11110,NULL,'Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 4 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. Regulator of G protein signaling 4 protein is 37% identical to RGS1 and 97% identical to rat Rgs4. This protein negatively regulate signaling upstream or at the level of the heterotrimeric G protein and is localized in the cytoplasm. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35104,'NCBI Gene PubMed Count',NULL,11110,NULL,NULL,NULL,117,NULL,NULL,NULL),(35105,'NCBI Gene Summary',NULL,11111,NULL,'This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(35106,'NCBI Gene PubMed Count',NULL,11111,NULL,NULL,NULL,23,NULL,NULL,NULL),(35107,'NCBI Gene Summary',NULL,11112,NULL,'This gene encodes a member of the Rho family of GTPases. This protein can activate PAK1 and JNK1, and can induce filopodium formation and stress fiber dissolution. It may also mediate the effects of WNT1 signaling in the regulation of cell morphology, cytoskeletal organization, and cell proliferation. A non-coding transcript variant of this gene results from naturally occurring read-through transcription between this locus and the neighboring DUSP5P (dual specificity phosphatase 5 pseudogene) locus.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(35108,'NCBI Gene PubMed Count',NULL,11112,NULL,NULL,NULL,33,NULL,NULL,NULL),(35109,'NCBI Gene PubMed Count',NULL,11113,NULL,NULL,NULL,10,NULL,NULL,NULL),(35110,'NCBI Gene PubMed Count',NULL,11114,NULL,NULL,NULL,9,NULL,NULL,NULL),(35111,'NCBI Gene Summary',NULL,11115,NULL,'This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35112,'NCBI Gene PubMed Count',NULL,11115,NULL,NULL,NULL,24,NULL,NULL,NULL),(35113,'NCBI Gene Summary',NULL,11116,NULL,'The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35114,'NCBI Gene PubMed Count',NULL,11116,NULL,NULL,NULL,19,NULL,NULL,NULL),(35115,'NCBI Gene PubMed Count',NULL,11117,NULL,NULL,NULL,8,NULL,NULL,NULL),(35116,'NCBI Gene PubMed Count',NULL,11118,NULL,NULL,NULL,5,NULL,NULL,NULL),(35117,'NCBI Gene PubMed Count',NULL,11119,NULL,NULL,NULL,7,NULL,NULL,NULL),(35118,'NCBI Gene PubMed Count',NULL,11120,NULL,NULL,NULL,11,NULL,NULL,NULL),(35119,'NCBI Gene PubMed Count',NULL,11121,NULL,NULL,NULL,4,NULL,NULL,NULL),(35120,'NCBI Gene PubMed Count',NULL,11122,NULL,NULL,NULL,28,NULL,NULL,NULL),(35121,'NCBI Gene Summary',NULL,11123,NULL,'This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(35122,'NCBI Gene PubMed Count',NULL,11123,NULL,NULL,NULL,28,NULL,NULL,NULL),(35123,'NCBI Gene Summary',NULL,11124,NULL,'Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the cycle of GTP binding and hydrolysis and thereby accelerate signaling kinetics and termination.[supplied by OMIM, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(35124,'NCBI Gene PubMed Count',NULL,11124,NULL,NULL,NULL,4,NULL,NULL,NULL),(35125,'NCBI Gene Summary',NULL,11125,NULL,'RGMB is a glycosylphosphatidylinositol (GPI)-anchored member of the repulsive guidance molecule family (see RGMA, MIM 607362) and contributes to the patterning of the developing nervous system (Samad et al., 2005 [PubMed 15671031]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(35126,'NCBI Gene PubMed Count',NULL,11125,NULL,NULL,NULL,18,NULL,NULL,NULL),(35127,'NCBI Gene Summary',NULL,11126,NULL,'This gene encodes a member of the regulators of G protein signaling (RGS) family. The RGS proteins are signal transduction molecules which are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. This gene is a hypoxia-inducible factor-1 dependent, hypoxia-induced gene which is involved in the induction of endothelial apoptosis. This gene is also one of three genes on chromosome 1q contributing to elevated blood pressure. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(35128,'NCBI Gene PubMed Count',NULL,11126,NULL,NULL,NULL,55,NULL,NULL,NULL),(35129,'NCBI Gene PubMed Count',NULL,11127,NULL,NULL,NULL,0,NULL,NULL,NULL),(35130,'NCBI Gene Summary',NULL,11128,NULL,'This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(35131,'NCBI Gene PubMed Count',NULL,11128,NULL,NULL,NULL,134,NULL,NULL,NULL),(35132,'NCBI Gene Summary',NULL,11129,NULL,'This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(35133,'NCBI Gene PubMed Count',NULL,11129,NULL,NULL,NULL,19,NULL,NULL,NULL),(35134,'NCBI Gene Summary',NULL,11130,NULL,'RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(35135,'NCBI Gene PubMed Count',NULL,11130,NULL,NULL,NULL,101,NULL,NULL,NULL),(35136,'NCBI Gene PubMed Count',NULL,11131,NULL,NULL,NULL,20,NULL,NULL,NULL),(35137,'NCBI Gene Summary',NULL,11132,NULL,'This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35138,'NCBI Gene PubMed Count',NULL,11132,NULL,NULL,NULL,71,NULL,NULL,NULL),(35139,'NCBI Gene Summary',NULL,11133,NULL,'This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(35140,'NCBI Gene PubMed Count',NULL,11133,NULL,NULL,NULL,44,NULL,NULL,NULL),(35141,'NCBI Gene Summary',NULL,11134,NULL,'This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35142,'NCBI Gene PubMed Count',NULL,11134,NULL,NULL,NULL,40,NULL,NULL,NULL),(35143,'NCBI Gene PubMed Count',NULL,11135,NULL,NULL,NULL,19,NULL,NULL,NULL),(35144,'NCBI Gene Summary',NULL,11136,NULL,'The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(35145,'NCBI Gene PubMed Count',NULL,11136,NULL,NULL,NULL,19,NULL,NULL,NULL),(35146,'NCBI Gene Summary',NULL,11137,NULL,'The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(35147,'NCBI Gene PubMed Count',NULL,11137,NULL,NULL,NULL,23,NULL,NULL,NULL),(35148,'NCBI Gene Summary',NULL,11138,NULL,'This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(35149,'NCBI Gene PubMed Count',NULL,11138,NULL,NULL,NULL,22,NULL,NULL,NULL),(35150,'NCBI Gene PubMed Count',NULL,11139,NULL,NULL,NULL,11,NULL,NULL,NULL),(35151,'NCBI Gene Summary',NULL,11140,NULL,'This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35152,'NCBI Gene PubMed Count',NULL,11140,NULL,NULL,NULL,45,NULL,NULL,NULL),(35153,'NCBI Gene Summary',NULL,11141,NULL,'This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(35154,'NCBI Gene PubMed Count',NULL,11141,NULL,NULL,NULL,15,NULL,NULL,NULL),(35155,'NCBI Gene Summary',NULL,11142,NULL,'This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(35156,'NCBI Gene PubMed Count',NULL,11142,NULL,NULL,NULL,3,NULL,NULL,NULL),(35157,'NCBI Gene PubMed Count',NULL,11143,NULL,NULL,NULL,3,NULL,NULL,NULL),(35158,'NCBI Gene Summary',NULL,11144,NULL,'This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(35159,'NCBI Gene PubMed Count',NULL,11144,NULL,NULL,NULL,10,NULL,NULL,NULL),(35160,'NCBI Gene Summary',NULL,11145,NULL,'The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(35161,'NCBI Gene PubMed Count',NULL,11145,NULL,NULL,NULL,48,NULL,NULL,NULL),(35162,'NCBI Gene PubMed Count',NULL,11146,NULL,NULL,NULL,24,NULL,NULL,NULL),(35163,'NCBI Gene Summary',NULL,11147,NULL,'The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(35164,'NCBI Gene PubMed Count',NULL,11147,NULL,NULL,NULL,18,NULL,NULL,NULL),(35165,'NCBI Gene Summary',NULL,11148,NULL,'The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(35166,'NCBI Gene PubMed Count',NULL,11148,NULL,NULL,NULL,37,NULL,NULL,NULL),(35167,'NCBI Gene Summary',NULL,11149,NULL,'Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(35168,'NCBI Gene PubMed Count',NULL,11149,NULL,NULL,NULL,22,NULL,NULL,NULL),(35169,'NCBI Gene Summary',NULL,11150,NULL,'This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35170,'NCBI Gene PubMed Count',NULL,11150,NULL,NULL,NULL,51,NULL,NULL,NULL),(35171,'NCBI Gene Summary',NULL,11151,NULL,'This gene encodes a nuclear protein that belongs to a novel family of proteins required for vertebrate somitogenesis. Members of this family have a tetrapeptide WRPW motif that is required for interaction with the transcriptional repressor Groucho and a carboxy-terminal Ripply homology domain/Bowline-DSCR-Ledgerline conserved region required for transcriptional repression. Null mutant mice die soon after birth and display defects in axial skeleton segmentation due to defective somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(35172,'NCBI Gene PubMed Count',NULL,11151,NULL,NULL,NULL,14,NULL,NULL,NULL),(35173,'NCBI Gene PubMed Count',NULL,11152,NULL,NULL,NULL,9,NULL,NULL,NULL),(35174,'NCBI Gene Summary',NULL,11153,NULL,'This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(35175,'NCBI Gene PubMed Count',NULL,11153,NULL,NULL,NULL,64,NULL,NULL,NULL),(35176,'NCBI Gene PubMed Count',NULL,11154,NULL,NULL,NULL,7,NULL,NULL,NULL),(35177,'NCBI Gene Summary',NULL,11155,NULL,'The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35178,'NCBI Gene PubMed Count',NULL,11155,NULL,NULL,NULL,36,NULL,NULL,NULL),(35179,'NCBI Gene Summary',NULL,11156,NULL,'RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(35180,'NCBI Gene PubMed Count',NULL,11156,NULL,NULL,NULL,36,NULL,NULL,NULL),(35181,'NCBI Gene Summary',NULL,11157,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L15E family of ribosomal proteins and a component of the 60S subunit. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Elevated expression of this gene has been observed in esophageal tumors and gastric cancer tissues, and deletion of this gene has been observed in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(35182,'NCBI Gene PubMed Count',NULL,11157,NULL,NULL,NULL,33,NULL,NULL,NULL),(35183,'NCBI Gene Summary',NULL,11158,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S21E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants that encode different protein isoforms have been described, but their existence has not been verified. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35184,'NCBI Gene PubMed Count',NULL,11158,NULL,NULL,NULL,26,NULL,NULL,NULL),(35185,'NCBI Gene Summary',NULL,11159,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(35186,'NCBI Gene PubMed Count',NULL,11159,NULL,NULL,NULL,37,NULL,NULL,NULL),(35187,'NCBI Gene Summary',NULL,11160,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S25E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35188,'NCBI Gene PubMed Count',NULL,11160,NULL,NULL,NULL,31,NULL,NULL,NULL),(35189,'NCBI Gene PubMed Count',NULL,11161,NULL,NULL,NULL,2,NULL,NULL,NULL),(35190,'NCBI Gene Summary',NULL,11162,NULL,'This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(35191,'NCBI Gene PubMed Count',NULL,11162,NULL,NULL,NULL,44,NULL,NULL,NULL),(35192,'NCBI Gene Summary',NULL,11163,NULL,'Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(35193,'NCBI Gene PubMed Count',NULL,11163,NULL,NULL,NULL,69,NULL,NULL,NULL),(35194,'NCBI Gene Summary',NULL,11164,NULL,'This gene encodes a protein sharing 96% amino acid similarity with ribosomal protein S27, which suggests the encoded protein may be a component of the 40S ribosomal subunit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35195,'NCBI Gene PubMed Count',NULL,11164,NULL,NULL,NULL,10,NULL,NULL,NULL),(35196,'NCBI Gene Summary',NULL,11165,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2018]',NULL,NULL,NULL,NULL,NULL),(35197,'NCBI Gene PubMed Count',NULL,11165,NULL,NULL,NULL,42,NULL,NULL,NULL),(35198,'NCBI Gene Summary',NULL,11166,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S28E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35199,'NCBI Gene PubMed Count',NULL,11166,NULL,NULL,NULL,26,NULL,NULL,NULL),(35200,'NCBI Gene Summary',NULL,11167,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(35201,'NCBI Gene PubMed Count',NULL,11167,NULL,NULL,NULL,26,NULL,NULL,NULL),(35202,'NCBI Gene Summary',NULL,11168,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35203,'NCBI Gene PubMed Count',NULL,11168,NULL,NULL,NULL,35,NULL,NULL,NULL),(35204,'NCBI Gene PubMed Count',NULL,11169,NULL,NULL,NULL,10,NULL,NULL,NULL),(35205,'NCBI Gene PubMed Count',NULL,11170,NULL,NULL,NULL,16,NULL,NULL,NULL),(35206,'NCBI Gene PubMed Count',NULL,11171,NULL,NULL,NULL,14,NULL,NULL,NULL),(35207,'NCBI Gene Summary',NULL,11172,NULL,'Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by this gene is one of the PcG proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35208,'NCBI Gene PubMed Count',NULL,11172,NULL,NULL,NULL,83,NULL,NULL,NULL),(35209,'NCBI Gene Summary',NULL,11173,NULL,'This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(35210,'NCBI Gene PubMed Count',NULL,11173,NULL,NULL,NULL,96,NULL,NULL,NULL),(35211,'NCBI Gene Summary',NULL,11174,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L32E family of ribosomal proteins. It is located in the cytoplasm. Although some studies have mapped this gene to 3q13.3-q21, it is believed to map to 3p25-p24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35212,'NCBI Gene PubMed Count',NULL,11174,NULL,NULL,NULL,22,NULL,NULL,NULL),(35213,'NCBI Gene Summary',NULL,11175,NULL,'Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37AE family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C4-type zinc finger-like domain. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35214,'NCBI Gene PubMed Count',NULL,11175,NULL,NULL,NULL,17,NULL,NULL,NULL),(35215,'NCBI Gene PubMed Count',NULL,11176,NULL,NULL,NULL,45,NULL,NULL,NULL),(35216,'NCBI Gene PubMed Count',NULL,11177,NULL,NULL,NULL,26,NULL,NULL,NULL),(35217,'NCBI Gene PubMed Count',NULL,11178,NULL,NULL,NULL,14,NULL,NULL,NULL),(35218,'NCBI Gene Summary',NULL,11179,NULL,'This gene encodes a protein which may function in the regulation of keratinocyte differentiation and maintenance of stratified epithelia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(35219,'NCBI Gene PubMed Count',NULL,11179,NULL,NULL,NULL,9,NULL,NULL,NULL),(35220,'NCBI Gene Summary',NULL,11180,NULL,'This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(35221,'NCBI Gene PubMed Count',NULL,11180,NULL,NULL,NULL,12,NULL,NULL,NULL),(35222,'NCBI Gene Summary',NULL,11181,NULL,'The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(35223,'NCBI Gene PubMed Count',NULL,11181,NULL,NULL,NULL,16,NULL,NULL,NULL),(35224,'NCBI Gene PubMed Count',NULL,11182,NULL,NULL,NULL,36,NULL,NULL,NULL),(35225,'NCBI Gene Summary',NULL,11183,NULL,'The protein encoded by this gene is an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(35226,'NCBI Gene PubMed Count',NULL,11183,NULL,NULL,NULL,9,NULL,NULL,NULL),(35227,'NCBI Gene Summary',NULL,11184,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(35228,'NCBI Gene PubMed Count',NULL,11184,NULL,NULL,NULL,319,NULL,NULL,NULL),(35229,'NCBI Gene Summary',NULL,11185,NULL,'The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(35230,'NCBI Gene PubMed Count',NULL,11185,NULL,NULL,NULL,276,NULL,NULL,NULL),(35231,'NCBI Gene Summary',NULL,11186,NULL,'The protein encoded by this gene is a member of the Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35232,'NCBI Gene PubMed Count',NULL,11186,NULL,NULL,NULL,32,NULL,NULL,NULL),(35233,'NCBI Gene PubMed Count',NULL,11187,NULL,NULL,NULL,4,NULL,NULL,NULL),(35234,'NCBI Gene Summary',NULL,11188,NULL,'This gene encodes a protein that interacts with the forkhead-associated domain of the Ki-67 antigen. The encoded protein may bind RNA and may play a role in mitosis and cell cycle progression. Multiple pseudogenes exist on chromosomes 5, 10, 12, 15, and 19.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(35235,'NCBI Gene PubMed Count',NULL,11188,NULL,NULL,NULL,15,NULL,NULL,NULL),(35236,'NCBI Gene Summary',NULL,11189,NULL,'This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(35237,'NCBI Gene PubMed Count',NULL,11189,NULL,NULL,NULL,50,NULL,NULL,NULL),(35238,'NCBI Gene PubMed Count',NULL,11190,NULL,NULL,NULL,6,NULL,NULL,NULL),(35239,'NCBI Gene PubMed Count',NULL,11191,NULL,NULL,NULL,5,NULL,NULL,NULL),(35240,'NCBI Gene Summary',NULL,11192,NULL,'Kynureninase is a pyridoxal-5\'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(35241,'NCBI Gene PubMed Count',NULL,11192,NULL,NULL,NULL,21,NULL,NULL,NULL),(35242,'NCBI Gene Summary',NULL,11193,NULL,'Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35243,'NCBI Gene PubMed Count',NULL,11193,NULL,NULL,NULL,85,NULL,NULL,NULL),(35244,'NCBI Gene Summary',NULL,11194,NULL,'This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. Unlike most MMPs, which are secreted, this protease is a member of the membrane-type MMP (MT-MMP) subfamily, contains a transmembrane domain and is expressed at the cell surface. Substrates of this protease include the proteins cadherin 2 and matrix metallopeptidase 2 (also known as 72 kDa type IV collagenase). [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(35245,'NCBI Gene PubMed Count',NULL,11194,NULL,NULL,NULL,23,NULL,NULL,NULL),(35246,'NCBI Gene Summary',NULL,11195,NULL,'This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35247,'NCBI Gene PubMed Count',NULL,11195,NULL,NULL,NULL,44,NULL,NULL,NULL),(35248,'NCBI Gene PubMed Count',NULL,11196,NULL,NULL,NULL,19,NULL,NULL,NULL),(35249,'NCBI Gene Summary',NULL,11197,NULL,'This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(35250,'NCBI Gene PubMed Count',NULL,11197,NULL,NULL,NULL,236,NULL,NULL,NULL),(35251,'NCBI Gene Summary',NULL,11198,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35252,'NCBI Gene PubMed Count',NULL,11198,NULL,NULL,NULL,40,NULL,NULL,NULL),(35253,'NCBI Gene PubMed Count',NULL,11199,NULL,NULL,NULL,23,NULL,NULL,NULL),(35254,'NCBI Gene PubMed Count',NULL,11200,NULL,NULL,NULL,50,NULL,NULL,NULL),(35255,'NCBI Gene Summary',NULL,11201,NULL,'This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(35256,'NCBI Gene PubMed Count',NULL,11201,NULL,NULL,NULL,58,NULL,NULL,NULL),(35257,'NCBI Gene Summary',NULL,11202,NULL,'This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(35258,'NCBI Gene PubMed Count',NULL,11202,NULL,NULL,NULL,64,NULL,NULL,NULL),(35259,'NCBI Gene Summary',NULL,11203,NULL,'This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(35260,'NCBI Gene PubMed Count',NULL,11203,NULL,NULL,NULL,53,NULL,NULL,NULL),(35261,'NCBI Gene Summary',NULL,11204,NULL,'This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(35262,'NCBI Gene PubMed Count',NULL,11204,NULL,NULL,NULL,28,NULL,NULL,NULL),(35263,'NCBI Gene Summary',NULL,11205,NULL,'This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(35264,'NCBI Gene PubMed Count',NULL,11205,NULL,NULL,NULL,82,NULL,NULL,NULL),(35265,'NCBI Gene Summary',NULL,11206,NULL,'The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(35266,'NCBI Gene PubMed Count',NULL,11206,NULL,NULL,NULL,79,NULL,NULL,NULL),(35267,'NCBI Gene PubMed Count',NULL,11207,NULL,NULL,NULL,13,NULL,NULL,NULL),(35268,'NCBI Gene Summary',NULL,11208,NULL,'Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(35269,'NCBI Gene PubMed Count',NULL,11208,NULL,NULL,NULL,151,NULL,NULL,NULL),(35270,'NCBI Gene Summary',NULL,11209,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35271,'NCBI Gene PubMed Count',NULL,11209,NULL,NULL,NULL,152,NULL,NULL,NULL),(35272,'NCBI Gene Summary',NULL,11210,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35273,'NCBI Gene PubMed Count',NULL,11210,NULL,NULL,NULL,163,NULL,NULL,NULL),(35274,'NCBI Gene Summary',NULL,11211,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35275,'NCBI Gene PubMed Count',NULL,11211,NULL,NULL,NULL,99,NULL,NULL,NULL),(35276,'NCBI Gene Summary',NULL,11212,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35277,'NCBI Gene PubMed Count',NULL,11212,NULL,NULL,NULL,24,NULL,NULL,NULL),(35278,'NCBI Gene Summary',NULL,11213,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(35279,'NCBI Gene PubMed Count',NULL,11213,NULL,NULL,NULL,151,NULL,NULL,NULL),(35280,'NCBI Gene Summary',NULL,11214,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35281,'NCBI Gene PubMed Count',NULL,11214,NULL,NULL,NULL,96,NULL,NULL,NULL),(35282,'NCBI Gene Summary',NULL,11215,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35283,'NCBI Gene PubMed Count',NULL,11215,NULL,NULL,NULL,103,NULL,NULL,NULL),(35284,'NCBI Gene Summary',NULL,11216,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35285,'NCBI Gene PubMed Count',NULL,11216,NULL,NULL,NULL,209,NULL,NULL,NULL),(35286,'NCBI Gene PubMed Count',NULL,11217,NULL,NULL,NULL,14,NULL,NULL,NULL),(35287,'NCBI Gene PubMed Count',NULL,11218,NULL,NULL,NULL,4,NULL,NULL,NULL),(35288,'NCBI Gene PubMed Count',NULL,11219,NULL,NULL,NULL,3,NULL,NULL,NULL),(35289,'NCBI Gene PubMed Count',NULL,11220,NULL,NULL,NULL,3,NULL,NULL,NULL),(35290,'NCBI Gene Summary',NULL,11221,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35291,'NCBI Gene PubMed Count',NULL,11221,NULL,NULL,NULL,6,NULL,NULL,NULL),(35292,'NCBI Gene Summary',NULL,11222,NULL,'The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein\'s ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35293,'NCBI Gene PubMed Count',NULL,11222,NULL,NULL,NULL,20,NULL,NULL,NULL),(35294,'NCBI Gene Summary',NULL,11223,NULL,'The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(35295,'NCBI Gene PubMed Count',NULL,11223,NULL,NULL,NULL,97,NULL,NULL,NULL),(35296,'NCBI Gene Summary',NULL,11224,NULL,'This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(35297,'NCBI Gene PubMed Count',NULL,11224,NULL,NULL,NULL,100,NULL,NULL,NULL),(35298,'NCBI Gene Summary',NULL,11225,NULL,'The protein encoded by this gene resides in the nucleus and may play a role in the assembly of the nuclear lamina, and thus help maintain the structural organization of the nuclear envelope. It may function as a receptor for the attachment of lamin filaments to the inner nuclear membrane. Mutations in this gene are associated with dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(35299,'NCBI Gene PubMed Count',NULL,11225,NULL,NULL,NULL,58,NULL,NULL,NULL),(35300,'NCBI Gene Summary',NULL,11227,NULL,'Members of the lipocalin family, such as LCN12, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(35301,'NCBI Gene PubMed Count',NULL,11227,NULL,NULL,NULL,3,NULL,NULL,NULL),(35302,'NCBI Gene Summary',NULL,11228,NULL,'LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1. The LCE cluster contains multiple conserved genes that encode stratum corneum proteins, and these genes are expressed relatively late during fetal assembly of the skin cornified envelope (Jackson et al., 2005 [PubMed 15854049]). For further information on the LCE gene cluster, see GENE FAMILY below.[supplied by OMIM, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(35303,'NCBI Gene PubMed Count',NULL,11228,NULL,NULL,NULL,4,NULL,NULL,NULL),(35304,'NCBI Gene Summary',NULL,11229,NULL,'This gene encodes a member of the lipocalin family of small secretory proteins. Lipocalins are extracellular transport proteins that bind to a variety of hydrophobic ligands. The encoded protein is the primary lipid binding protein in tears and is overproduced in response to multiple stimuli including infection and stress. The encoded protein may be a marker for chromosome aneuploidy as well as an autoantigen in Sjogren\'s syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and two pseudogenes of this gene are also located on the long arm of chromosome 9. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(35305,'NCBI Gene PubMed Count',NULL,11229,NULL,NULL,NULL,40,NULL,NULL,NULL),(35306,'NCBI Gene PubMed Count',NULL,11230,NULL,NULL,NULL,8,NULL,NULL,NULL),(35307,'NCBI Gene PubMed Count',NULL,11231,NULL,NULL,NULL,8,NULL,NULL,NULL),(35308,'NCBI Gene Summary',NULL,11232,NULL,'The protein encoded by this gene belongs to the LIM-domain binding family. Members of this family are characterized by a conserved nuclear localization sequence, an amino-terminal homodimerization domain and a carboxy-terminal LIM interaction domain. These proteins function as adapter molecules to allow assembly of transcriptional regulatory complexes. Genetic association studies suggest functions for this gene in rhegmatogenous retinal detachment and coronary artery disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(35309,'NCBI Gene PubMed Count',NULL,11232,NULL,NULL,NULL,22,NULL,NULL,NULL),(35310,'NCBI Gene PubMed Count',NULL,11233,NULL,NULL,NULL,4,NULL,NULL,NULL),(35311,'NCBI Gene Summary',NULL,11234,NULL,'The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to lymphotoxin-alpha. A single nucleotide polymorphism in an intron of this gene can alter the transcriptional level of the protein, with a resultant increased risk of myocardial infarction. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35312,'NCBI Gene PubMed Count',NULL,11234,NULL,NULL,NULL,52,NULL,NULL,NULL),(35313,'NCBI Gene Summary',NULL,11235,NULL,'This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(35314,'NCBI Gene PubMed Count',NULL,11235,NULL,NULL,NULL,675,NULL,NULL,NULL),(35315,'NCBI Gene PubMed Count',NULL,11236,NULL,NULL,NULL,6,NULL,NULL,NULL),(35316,'NCBI Gene Summary',NULL,11237,NULL,'Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35317,'NCBI Gene PubMed Count',NULL,11237,NULL,NULL,NULL,287,NULL,NULL,NULL),(35318,'NCBI Gene Summary',NULL,11238,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(35319,'NCBI Gene PubMed Count',NULL,11238,NULL,NULL,NULL,6,NULL,NULL,NULL),(35320,'NCBI Gene PubMed Count',NULL,11239,NULL,NULL,NULL,13,NULL,NULL,NULL),(35321,'NCBI Gene PubMed Count',NULL,11240,NULL,NULL,NULL,4,NULL,NULL,NULL),(35322,'NCBI Gene Summary',NULL,11241,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35323,'NCBI Gene PubMed Count',NULL,11241,NULL,NULL,NULL,4,NULL,NULL,NULL),(35324,'NCBI Gene PubMed Count',NULL,11242,NULL,NULL,NULL,3,NULL,NULL,NULL),(35325,'NCBI Gene PubMed Count',NULL,11243,NULL,NULL,NULL,2,NULL,NULL,NULL),(35326,'NCBI Gene Summary',NULL,11244,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35327,'NCBI Gene PubMed Count',NULL,11244,NULL,NULL,NULL,5,NULL,NULL,NULL),(35328,'NCBI Gene PubMed Count',NULL,11245,NULL,NULL,NULL,2,NULL,NULL,NULL),(35329,'NCBI Gene PubMed Count',NULL,11246,NULL,NULL,NULL,8,NULL,NULL,NULL),(35330,'NCBI Gene Summary',NULL,11247,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35331,'NCBI Gene PubMed Count',NULL,11247,NULL,NULL,NULL,4,NULL,NULL,NULL),(35332,'NCBI Gene Summary',NULL,11248,NULL,'This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(35333,'NCBI Gene PubMed Count',NULL,11248,NULL,NULL,NULL,104,NULL,NULL,NULL),(35334,'NCBI Gene Summary',NULL,11249,NULL,'This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(35335,'NCBI Gene PubMed Count',NULL,11249,NULL,NULL,NULL,340,NULL,NULL,NULL),(35336,'NCBI Gene Summary',NULL,11250,NULL,'The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35337,'NCBI Gene PubMed Count',NULL,11250,NULL,NULL,NULL,94,NULL,NULL,NULL),(35338,'NCBI Gene Summary',NULL,11251,NULL,'The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35339,'NCBI Gene PubMed Count',NULL,11251,NULL,NULL,NULL,10,NULL,NULL,NULL),(35340,'NCBI Gene Summary',NULL,11252,NULL,'This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35341,'NCBI Gene PubMed Count',NULL,11252,NULL,NULL,NULL,23,NULL,NULL,NULL),(35342,'NCBI Gene Summary',NULL,11253,NULL,'This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35343,'NCBI Gene PubMed Count',NULL,11253,NULL,NULL,NULL,5,NULL,NULL,NULL),(35344,'NCBI Gene PubMed Count',NULL,11254,NULL,NULL,NULL,3,NULL,NULL,NULL),(35345,'NCBI Gene PubMed Count',NULL,11255,NULL,NULL,NULL,4,NULL,NULL,NULL),(35346,'NCBI Gene Summary',NULL,11256,NULL,'This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35347,'NCBI Gene PubMed Count',NULL,11256,NULL,NULL,NULL,8,NULL,NULL,NULL),(35348,'NCBI Gene Summary',NULL,11257,NULL,'This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(35349,'NCBI Gene PubMed Count',NULL,11257,NULL,NULL,NULL,291,NULL,NULL,NULL),(35350,'NCBI Gene Summary',NULL,11258,NULL,'This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(35351,'NCBI Gene PubMed Count',NULL,11258,NULL,NULL,NULL,27,NULL,NULL,NULL),(35352,'NCBI Gene PubMed Count',NULL,11259,NULL,NULL,NULL,12,NULL,NULL,NULL),(35353,'NCBI Gene PubMed Count',NULL,11260,NULL,NULL,NULL,2,NULL,NULL,NULL),(35354,'NCBI Gene PubMed Count',NULL,11261,NULL,NULL,NULL,12,NULL,NULL,NULL),(35355,'NCBI Gene PubMed Count',NULL,11262,NULL,NULL,NULL,3,NULL,NULL,NULL),(35356,'NCBI Gene PubMed Count',NULL,11263,NULL,NULL,NULL,2,NULL,NULL,NULL),(35357,'NCBI Gene PubMed Count',NULL,11264,NULL,NULL,NULL,6,NULL,NULL,NULL),(35358,'NCBI Gene PubMed Count',NULL,11265,NULL,NULL,NULL,5,NULL,NULL,NULL),(35359,'NCBI Gene Summary',NULL,11266,NULL,'This gene encodes a member of the calcium/calmodulin-dependent protein kinases (CAMK) Ser/Thr protein kinase family, which belongs to the protein kinase superfamily. This protein contains conserved DLG (asp-leu-gly) and ENIL (glu-asn-ile-leu) motifs, and an N-terminal polybasic region which binds importin A and the translation factor scaffold protein eukaryotic initiation factor 4G (eIF4G). This protein is one of the downstream kinases activated by mitogen-activated protein (MAP) kinases. It phosphorylates the eukaryotic initiation factor 4E (eIF4E), thus playing important roles in the initiation of mRNA translation, oncogenic transformation and malignant cell proliferation. In addition to eIF4E, this protein also interacts with von Hippel-Lindau tumor suppressor (VHL), ring-box 1 (Rbx1) and Cullin2 (Cul2), which are all components of the CBC(VHL) ubiquitin ligase E3 complex. Multiple alternatively spliced transcript variants have been found, but the full-length nature and biological activity of only two variants are determined. These two variants encode distinct isoforms which differ in activity and regulation, and in subcellular localization. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(35360,'NCBI Gene PubMed Count',NULL,11266,NULL,NULL,NULL,30,NULL,NULL,NULL),(35361,'NCBI Gene PubMed Count',NULL,11267,NULL,NULL,NULL,14,NULL,NULL,NULL),(35362,'NCBI Gene PubMed Count',NULL,11268,NULL,NULL,NULL,2,NULL,NULL,NULL),(35363,'NCBI Gene Summary',NULL,11269,NULL,'This gene encodes a member of a family of proteins that are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded protein is secreted as an inactive proprotein, which is activated upon cleavage by extracellular proteases. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(35364,'NCBI Gene PubMed Count',NULL,11269,NULL,NULL,NULL,64,NULL,NULL,NULL),(35365,'NCBI Gene Summary',NULL,11270,NULL,'This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(35366,'NCBI Gene PubMed Count',NULL,11270,NULL,NULL,NULL,881,NULL,NULL,NULL),(35367,'NCBI Gene Summary',NULL,11271,NULL,'The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to leukocyte-associated immunoglobulin-like receptor 1, a membrane-bound receptor that modulates innate immune response. The protein encoded by this locus is a soluble receptor that may play roles in both inhibition of collagen-induced platelet aggregation and vessel formation during placental implantation. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(35368,'NCBI Gene PubMed Count',NULL,11271,NULL,NULL,NULL,18,NULL,NULL,NULL),(35369,'NCBI Gene Summary',NULL,11272,NULL,'Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35370,'NCBI Gene PubMed Count',NULL,11272,NULL,NULL,NULL,29,NULL,NULL,NULL),(35371,'NCBI Gene PubMed Count',NULL,11273,NULL,NULL,NULL,3,NULL,NULL,NULL),(35372,'NCBI Gene Summary',NULL,11274,NULL,'Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP\'s are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35373,'NCBI Gene PubMed Count',NULL,11274,NULL,NULL,NULL,9,NULL,NULL,NULL),(35374,'NCBI Gene Summary',NULL,11275,NULL,'The protein encoded by this gene is a member of a family of membrane glycoproteins.  This glycoprotein provides selectins with carbohydrate ligands.  It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35375,'NCBI Gene PubMed Count',NULL,11275,NULL,NULL,NULL,84,NULL,NULL,NULL),(35376,'NCBI Gene PubMed Count',NULL,11276,NULL,NULL,NULL,24,NULL,NULL,NULL),(35377,'NCBI Gene Summary',NULL,11277,NULL,'The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35378,'NCBI Gene PubMed Count',NULL,11277,NULL,NULL,NULL,129,NULL,NULL,NULL),(35379,'NCBI Gene Summary',NULL,11278,NULL,'The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(35380,'NCBI Gene PubMed Count',NULL,11278,NULL,NULL,NULL,102,NULL,NULL,NULL),(35381,'NCBI Gene Summary',NULL,11279,NULL,'This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(35382,'NCBI Gene PubMed Count',NULL,11279,NULL,NULL,NULL,84,NULL,NULL,NULL),(35383,'NCBI Gene Summary',NULL,11280,NULL,'This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal hemopexin domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes on chromosome 11. This gene exhibits elevated expression levels in multiple human cancers. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(35384,'NCBI Gene PubMed Count',NULL,11280,NULL,NULL,NULL,425,NULL,NULL,NULL),(35385,'NCBI Gene PubMed Count',NULL,11281,NULL,NULL,NULL,2,NULL,NULL,NULL),(35386,'NCBI Gene Summary',NULL,11282,NULL,'The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35387,'NCBI Gene PubMed Count',NULL,11282,NULL,NULL,NULL,18,NULL,NULL,NULL),(35388,'NCBI Gene Summary',NULL,11283,NULL,'The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(35389,'NCBI Gene PubMed Count',NULL,11283,NULL,NULL,NULL,12,NULL,NULL,NULL),(35390,'NCBI Gene Summary',NULL,11284,NULL,'This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein binds to and inhibits the activation of several receptor tyrosine kinases. The membrane-bound protein is a regulator of intestinal secretion, bone growth and renin secretion. Alternate splicing results in multiple transcript variants encoding distinct isoforms whose regulatory N-termini differ in length but whose C-terminal catalytic domains are identical. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(35391,'NCBI Gene PubMed Count',NULL,11284,NULL,NULL,NULL,47,NULL,NULL,NULL),(35392,'NCBI Gene PubMed Count',NULL,11285,NULL,NULL,NULL,12,NULL,NULL,NULL),(35393,'NCBI Gene Summary',NULL,11286,NULL,'This gene encodes a member of the kinesin superfamily of microtubule-associated molecular motors with functions related to the microtubule cytosekelton. Members of this superfamily play important roles in intracellular transport and cell division. A similar protein in mouse functions in the beta cell antioxidant signaling cascade, acting as a scaffold for the transcription factor specificity protein 1 (Sp1). Mice that lack this gene exhibit beta cell oxidative stress resulting in hypoinsulinemic glucose intolerance. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(35394,'NCBI Gene PubMed Count',NULL,11286,NULL,NULL,NULL,11,NULL,NULL,NULL),(35395,'NCBI Gene PubMed Count',NULL,11287,NULL,NULL,NULL,20,NULL,NULL,NULL),(35396,'NCBI Gene Summary',NULL,11288,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(35397,'NCBI Gene PubMed Count',NULL,11288,NULL,NULL,NULL,150,NULL,NULL,NULL),(35398,'NCBI Gene PubMed Count',NULL,11289,NULL,NULL,NULL,8,NULL,NULL,NULL),(35399,'NCBI Gene Summary',NULL,11290,NULL,'This gene encodes a kinesin-like protein that functions as a microtubule-dependent molecular motor. The encoded protein can depolymerize microtubules at the plus end, thereby promoting mitotic chromosome segregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(35400,'NCBI Gene PubMed Count',NULL,11290,NULL,NULL,NULL,91,NULL,NULL,NULL),(35401,'NCBI Gene Summary',NULL,11291,NULL,'The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(35402,'NCBI Gene PubMed Count',NULL,11291,NULL,NULL,NULL,45,NULL,NULL,NULL),(35403,'NCBI Gene Summary',NULL,11292,NULL,'The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(35404,'NCBI Gene PubMed Count',NULL,11292,NULL,NULL,NULL,90,NULL,NULL,NULL),(35405,'NCBI Gene PubMed Count',NULL,11293,NULL,NULL,NULL,10,NULL,NULL,NULL),(35406,'NCBI Gene Summary',NULL,11294,NULL,'The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(35407,'NCBI Gene PubMed Count',NULL,11294,NULL,NULL,NULL,33,NULL,NULL,NULL),(35408,'NCBI Gene Summary',NULL,11295,NULL,'This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35409,'NCBI Gene PubMed Count',NULL,11295,NULL,NULL,NULL,65,NULL,NULL,NULL),(35410,'NCBI Gene Summary',NULL,11296,NULL,'This gene encodes a member of the kinesin superfamily of microtubule-based motor proteins which are involved in the intracellular transport of membranous organelles, protein complexes, and mRNAs. They also play critical roles in mitosis, morphogenesis, and signal transduction. The encoded protein contains an N-terminal sterile alpha motif (SAM) domain and an ATP-binding kinesin motor domain. It binds centriolar coiled coil protein 110 and centrosomal protein 97 and localizes to the mother centriole to regulate ciliogenesis by controlling microtubule polymerization. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(35411,'NCBI Gene PubMed Count',NULL,11296,NULL,NULL,NULL,16,NULL,NULL,NULL),(35412,'NCBI Gene PubMed Count',NULL,11297,NULL,NULL,NULL,2,NULL,NULL,NULL),(35413,'NCBI Gene Summary',NULL,11298,NULL,'This gene encodes a member of a family of molecular motors which are involved in intracellular transport of protein complexes, membrane organelles, and messenger ribonucleic acid along microtubules. Kinesins function as homodimeric molecules with two N-terminal head domains that move along microtubules and two C-terminal tail domains that interact with the transported cargo, either directly or indirectly, through adapter molecules. This gene is ubiquitously expressed in coronary arteries and other vascular tissue. A naturally occurring mutation in this gene is associated with coronary heart disease. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(35414,'NCBI Gene PubMed Count',NULL,11298,NULL,NULL,NULL,51,NULL,NULL,NULL),(35415,'NCBI Gene PubMed Count',NULL,11299,NULL,NULL,NULL,9,NULL,NULL,NULL),(35416,'NCBI Gene PubMed Count',NULL,11300,NULL,NULL,NULL,17,NULL,NULL,NULL),(35417,'NCBI Gene Summary',NULL,11301,NULL,'The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(35418,'NCBI Gene PubMed Count',NULL,11301,NULL,NULL,NULL,24,NULL,NULL,NULL),(35419,'NCBI Gene PubMed Count',NULL,11302,NULL,NULL,NULL,11,NULL,NULL,NULL),(35420,'NCBI Gene Summary',NULL,11303,NULL,'This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(35421,'NCBI Gene PubMed Count',NULL,11303,NULL,NULL,NULL,30,NULL,NULL,NULL),(35422,'NCBI Gene Summary',NULL,11304,NULL,'This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(35423,'NCBI Gene PubMed Count',NULL,11304,NULL,NULL,NULL,19,NULL,NULL,NULL),(35424,'NCBI Gene Summary',NULL,11305,NULL,'Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35425,'NCBI Gene PubMed Count',NULL,11305,NULL,NULL,NULL,66,NULL,NULL,NULL),(35426,'NCBI Gene Summary',NULL,11306,NULL,'Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing and the use of alternate promoters results in multiple transcript variants encoding distinct isoforms which are differentially expressed. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(35427,'NCBI Gene PubMed Count',NULL,11306,NULL,NULL,NULL,43,NULL,NULL,NULL),(35428,'NCBI Gene Summary',NULL,11307,NULL,'Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35429,'NCBI Gene PubMed Count',NULL,11307,NULL,NULL,NULL,25,NULL,NULL,NULL),(35430,'NCBI Gene Summary',NULL,11308,NULL,'Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(35431,'NCBI Gene PubMed Count',NULL,11308,NULL,NULL,NULL,70,NULL,NULL,NULL),(35432,'NCBI Gene Summary',NULL,11309,NULL,'This gene encodes a member of the kallikrein subfamily of serine proteases. These enzymes have diverse physiological functions and many kallikrein genes are biomarkers for cancer. The encoded protein has chymotrypsin-like activity and plays a role in the proteolysis of intercellular cohesive structures that precedes desquamation, the shedding of the outermost layer of the epidermis. The encoded protein may play a role in cancer invasion and metastasis, and increased expression of this gene is associated with unfavorable prognosis and progression of several types of cancer. Polymorphisms in this gene may play a role in the development of atopic dermatitis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is one of fifteen kallikrein subfamily members located in a gene cluster on chromosome 19. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(35433,'NCBI Gene PubMed Count',NULL,11309,NULL,NULL,NULL,72,NULL,NULL,NULL),(35434,'NCBI Gene Summary',NULL,11310,NULL,'This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(35435,'NCBI Gene PubMed Count',NULL,11310,NULL,NULL,NULL,32,NULL,NULL,NULL),(35436,'NCBI Gene Summary',NULL,11311,NULL,'The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(35437,'NCBI Gene PubMed Count',NULL,11311,NULL,NULL,NULL,43,NULL,NULL,NULL),(35438,'NCBI Gene PubMed Count',NULL,11312,NULL,NULL,NULL,1,NULL,NULL,NULL),(35439,'NCBI Gene PubMed Count',NULL,11313,NULL,NULL,NULL,2,NULL,NULL,NULL),(35440,'NCBI Gene PubMed Count',NULL,11314,NULL,NULL,NULL,5,NULL,NULL,NULL),(35441,'NCBI Gene Summary',NULL,11315,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35442,'NCBI Gene PubMed Count',NULL,11315,NULL,NULL,NULL,4,NULL,NULL,NULL),(35443,'NCBI Gene PubMed Count',NULL,11316,NULL,NULL,NULL,5,NULL,NULL,NULL),(35444,'NCBI Gene Summary',NULL,11317,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs.  This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35445,'NCBI Gene PubMed Count',NULL,11317,NULL,NULL,NULL,4,NULL,NULL,NULL),(35446,'NCBI Gene Summary',NULL,11318,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35447,'NCBI Gene PubMed Count',NULL,11318,NULL,NULL,NULL,8,NULL,NULL,NULL),(35448,'NCBI Gene Summary',NULL,11319,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35449,'NCBI Gene PubMed Count',NULL,11319,NULL,NULL,NULL,6,NULL,NULL,NULL),(35450,'NCBI Gene PubMed Count',NULL,11320,NULL,NULL,NULL,3,NULL,NULL,NULL),(35451,'NCBI Gene Summary',NULL,11321,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35452,'NCBI Gene PubMed Count',NULL,11321,NULL,NULL,NULL,3,NULL,NULL,NULL),(35453,'NCBI Gene Summary',NULL,11322,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35454,'NCBI Gene PubMed Count',NULL,11322,NULL,NULL,NULL,5,NULL,NULL,NULL),(35455,'NCBI Gene PubMed Count',NULL,11323,NULL,NULL,NULL,2,NULL,NULL,NULL),(35456,'NCBI Gene PubMed Count',NULL,11324,NULL,NULL,NULL,2,NULL,NULL,NULL),(35457,'NCBI Gene Summary',NULL,11325,NULL,'This encodes a zinc finger protein with an N-terminal KRAB (Kruppel-associated) domain found in transcriptional repressors. This gene is located in a region of the X chromosome thought to be involved in nonsyndromic X-linked cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(35458,'NCBI Gene PubMed Count',NULL,11325,NULL,NULL,NULL,7,NULL,NULL,NULL),(35459,'NCBI Gene PubMed Count',NULL,11326,NULL,NULL,NULL,6,NULL,NULL,NULL),(35460,'NCBI Gene Summary',NULL,11327,NULL,'The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progression. Also, this protein can positively or negatively regulate apoptosis. Defects in this gene are a cause of autoimmune lymphoproliferative syndrome. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(35461,'NCBI Gene PubMed Count',NULL,11327,NULL,NULL,NULL,570,NULL,NULL,NULL),(35462,'NCBI Gene PubMed Count',NULL,11328,NULL,NULL,NULL,25,NULL,NULL,NULL),(35463,'NCBI Gene Summary',NULL,11329,NULL,'This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35464,'NCBI Gene PubMed Count',NULL,11329,NULL,NULL,NULL,162,NULL,NULL,NULL),(35465,'NCBI Gene PubMed Count',NULL,11330,NULL,NULL,NULL,0,NULL,NULL,NULL),(35466,'NCBI Gene Summary',NULL,11331,NULL,'This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(35467,'NCBI Gene PubMed Count',NULL,11331,NULL,NULL,NULL,58,NULL,NULL,NULL),(35468,'NCBI Gene Summary',NULL,11332,NULL,'The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35469,'NCBI Gene PubMed Count',NULL,11332,NULL,NULL,NULL,25,NULL,NULL,NULL),(35470,'NCBI Gene Summary',NULL,11333,NULL,'This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(35471,'NCBI Gene PubMed Count',NULL,11333,NULL,NULL,NULL,436,NULL,NULL,NULL),(35472,'NCBI Gene Summary',NULL,11334,NULL,'This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(35473,'NCBI Gene PubMed Count',NULL,11334,NULL,NULL,NULL,18,NULL,NULL,NULL),(35474,'NCBI Gene Summary',NULL,11335,NULL,'This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(35475,'NCBI Gene PubMed Count',NULL,11335,NULL,NULL,NULL,162,NULL,NULL,NULL),(35476,'NCBI Gene PubMed Count',NULL,11336,NULL,NULL,NULL,3,NULL,NULL,NULL),(35477,'NCBI Gene PubMed Count',NULL,11337,NULL,NULL,NULL,0,NULL,NULL,NULL),(35478,'NCBI Gene Summary',NULL,11338,NULL,'Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(35479,'NCBI Gene PubMed Count',NULL,11338,NULL,NULL,NULL,3,NULL,NULL,NULL),(35480,'NCBI Gene PubMed Count',NULL,11339,NULL,NULL,NULL,2,NULL,NULL,NULL),(35481,'NCBI Gene Summary',NULL,11340,NULL,'Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35482,'NCBI Gene PubMed Count',NULL,11340,NULL,NULL,NULL,324,NULL,NULL,NULL),(35483,'NCBI Gene Summary',NULL,11341,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35484,'NCBI Gene PubMed Count',NULL,11341,NULL,NULL,NULL,5,NULL,NULL,NULL),(35485,'NCBI Gene PubMed Count',NULL,11342,NULL,NULL,NULL,3,NULL,NULL,NULL),(35486,'NCBI Gene PubMed Count',NULL,11343,NULL,NULL,NULL,1,NULL,NULL,NULL),(35487,'NCBI Gene PubMed Count',NULL,11344,NULL,NULL,NULL,3,NULL,NULL,NULL),(35488,'NCBI Gene PubMed Count',NULL,11345,NULL,NULL,NULL,1,NULL,NULL,NULL),(35489,'NCBI Gene PubMed Count',NULL,11346,NULL,NULL,NULL,3,NULL,NULL,NULL),(35490,'NCBI Gene Summary',NULL,11347,NULL,'The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35491,'NCBI Gene PubMed Count',NULL,11347,NULL,NULL,NULL,63,NULL,NULL,NULL),(35492,'NCBI Gene Summary',NULL,11348,NULL,'The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35493,'NCBI Gene PubMed Count',NULL,11348,NULL,NULL,NULL,13,NULL,NULL,NULL),(35494,'NCBI Gene Summary',NULL,11349,NULL,'This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(35495,'NCBI Gene PubMed Count',NULL,11349,NULL,NULL,NULL,32,NULL,NULL,NULL),(35496,'NCBI Gene Summary',NULL,11350,NULL,'Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35497,'NCBI Gene PubMed Count',NULL,11350,NULL,NULL,NULL,289,NULL,NULL,NULL),(35498,'NCBI Gene Summary',NULL,11351,NULL,'This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(35499,'NCBI Gene PubMed Count',NULL,11351,NULL,NULL,NULL,7,NULL,NULL,NULL),(35500,'NCBI Gene Summary',NULL,11352,NULL,'This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor. A similar protein in mouse functions interacts with with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(35501,'NCBI Gene PubMed Count',NULL,11352,NULL,NULL,NULL,7,NULL,NULL,NULL),(35502,'NCBI Gene PubMed Count',NULL,11353,NULL,NULL,NULL,6,NULL,NULL,NULL),(35503,'NCBI Gene Summary',NULL,11354,NULL,'This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(35504,'NCBI Gene PubMed Count',NULL,11354,NULL,NULL,NULL,9,NULL,NULL,NULL),(35505,'NCBI Gene Summary',NULL,11355,NULL,'This gene encodes a member of ribosomal S6 kinase family, serine-threonine protein kinases which are regulated by growth factors. The encoded protein may be distinct from other members of this family, however, as studies suggest it is not growth factor dependent and may not participate in the same signaling pathways. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(35506,'NCBI Gene PubMed Count',NULL,11355,NULL,NULL,NULL,30,NULL,NULL,NULL),(35507,'NCBI Gene Summary',NULL,11356,NULL,'Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phosphate, suggesting a role in sphingosine 1 phophate signaling. The encoded protein can also bind to peroxiredoxin-3 and may help transport it to mitochondria. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(35508,'NCBI Gene PubMed Count',NULL,11356,NULL,NULL,NULL,13,NULL,NULL,NULL),(35509,'NCBI Gene PubMed Count',NULL,11357,NULL,NULL,NULL,9,NULL,NULL,NULL),(35510,'NCBI Gene Summary',NULL,11358,NULL,'The protein encoded by this gene contains a caspase-associated recruitment domain and may function in apoptosis. It has been identified as a tumor suppressor in lung and gastric cancers, and a polymorphism in the gene may be associated with gastric cancer risk. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(35511,'NCBI Gene PubMed Count',NULL,11358,NULL,NULL,NULL,13,NULL,NULL,NULL),(35512,'NCBI Gene PubMed Count',NULL,11359,NULL,NULL,NULL,23,NULL,NULL,NULL),(35513,'NCBI Gene PubMed Count',NULL,11360,NULL,NULL,NULL,2,NULL,NULL,NULL),(35514,'NCBI Gene PubMed Count',NULL,11361,NULL,NULL,NULL,4,NULL,NULL,NULL),(35515,'NCBI Gene Summary',NULL,11362,NULL,'The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35516,'NCBI Gene PubMed Count',NULL,11362,NULL,NULL,NULL,170,NULL,NULL,NULL),(35517,'NCBI Gene Summary',NULL,11363,NULL,'The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system, and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]',NULL,NULL,NULL,NULL,NULL),(35518,'NCBI Gene PubMed Count',NULL,11363,NULL,NULL,NULL,73,NULL,NULL,NULL),(35519,'NCBI Gene Summary',NULL,11364,NULL,'Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35520,'NCBI Gene PubMed Count',NULL,11364,NULL,NULL,NULL,73,NULL,NULL,NULL),(35521,'NCBI Gene Summary',NULL,11365,NULL,'Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(35522,'NCBI Gene PubMed Count',NULL,11365,NULL,NULL,NULL,27,NULL,NULL,NULL),(35523,'NCBI Gene PubMed Count',NULL,11366,NULL,NULL,NULL,28,NULL,NULL,NULL),(35524,'NCBI Gene PubMed Count',NULL,11367,NULL,NULL,NULL,6,NULL,NULL,NULL),(35525,'NCBI Gene PubMed Count',NULL,11368,NULL,NULL,NULL,8,NULL,NULL,NULL),(35526,'NCBI Gene PubMed Count',NULL,11369,NULL,NULL,NULL,4,NULL,NULL,NULL),(35527,'NCBI Gene PubMed Count',NULL,11370,NULL,NULL,NULL,4,NULL,NULL,NULL),(35528,'NCBI Gene PubMed Count',NULL,11371,NULL,NULL,NULL,5,NULL,NULL,NULL),(35529,'NCBI Gene Summary',NULL,11372,NULL,'This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein is unique among the membrane-type matrix metalloproteinases in that it is anchored to the cell membrane via a glycosylphosphatidylinositol (GPI) anchor. Elevated expression of the encoded protein has been observed in osteoarthritis and multiple human cancers. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(35530,'NCBI Gene PubMed Count',NULL,11372,NULL,NULL,NULL,32,NULL,NULL,NULL),(35531,'NCBI Gene Summary',NULL,11373,NULL,'The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrom c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(35532,'NCBI Gene PubMed Count',NULL,11373,NULL,NULL,NULL,760,NULL,NULL,NULL),(35533,'NCBI Gene Summary',NULL,11374,NULL,'Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35534,'NCBI Gene PubMed Count',NULL,11374,NULL,NULL,NULL,29,NULL,NULL,NULL),(35535,'NCBI Gene Summary',NULL,11375,NULL,'This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(35536,'NCBI Gene PubMed Count',NULL,11375,NULL,NULL,NULL,11,NULL,NULL,NULL),(35537,'NCBI Gene Summary',NULL,11376,NULL,'Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(35538,'NCBI Gene PubMed Count',NULL,11376,NULL,NULL,NULL,21,NULL,NULL,NULL),(35539,'NCBI Gene PubMed Count',NULL,11377,NULL,NULL,NULL,4,NULL,NULL,NULL),(35540,'NCBI Gene PubMed Count',NULL,11378,NULL,NULL,NULL,10,NULL,NULL,NULL),(35541,'NCBI Gene Summary',NULL,11379,NULL,'This gene encodes a Ser/Thr protein kinase that interacts with, and is activated by ERK1 and p38 mitogen-activated protein kinases, and thus may play a role in the response to environmental stress and cytokines. This kinase may also regulate transcription by phosphorylating eIF4E via interaction with the C-terminal region of eIF4G. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(35542,'NCBI Gene PubMed Count',NULL,11379,NULL,NULL,NULL,69,NULL,NULL,NULL),(35543,'NCBI Gene PubMed Count',NULL,11380,NULL,NULL,NULL,20,NULL,NULL,NULL),(35544,'NCBI Gene PubMed Count',NULL,11381,NULL,NULL,NULL,3,NULL,NULL,NULL),(35545,'NCBI Gene PubMed Count',NULL,11382,NULL,NULL,NULL,21,NULL,NULL,NULL),(35546,'NCBI Gene PubMed Count',NULL,11383,NULL,NULL,NULL,2,NULL,NULL,NULL),(35547,'NCBI Gene PubMed Count',NULL,11384,NULL,NULL,NULL,2,NULL,NULL,NULL),(35548,'NCBI Gene PubMed Count',NULL,11385,NULL,NULL,NULL,3,NULL,NULL,NULL),(35549,'NCBI Gene PubMed Count',NULL,11386,NULL,NULL,NULL,4,NULL,NULL,NULL),(35550,'NCBI Gene PubMed Count',NULL,11387,NULL,NULL,NULL,7,NULL,NULL,NULL),(35551,'NCBI Gene PubMed Count',NULL,11388,NULL,NULL,NULL,2,NULL,NULL,NULL),(35552,'NCBI Gene Summary',NULL,11389,NULL,'This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(35553,'NCBI Gene PubMed Count',NULL,11389,NULL,NULL,NULL,303,NULL,NULL,NULL),(35554,'NCBI Gene Summary',NULL,11390,NULL,'Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP\'s are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35555,'NCBI Gene PubMed Count',NULL,11390,NULL,NULL,NULL,495,NULL,NULL,NULL),(35556,'NCBI Gene Summary',NULL,11391,NULL,'Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(35557,'NCBI Gene PubMed Count',NULL,11391,NULL,NULL,NULL,54,NULL,NULL,NULL),(35558,'NCBI Gene Summary',NULL,11392,NULL,'This locus represents a pseudogene of the L-type amino acid transporter 1. Transcripts initiating at this locus read through to downstream SMG1 pseudogene 2 (SMG1P2). [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(35559,'NCBI Gene PubMed Count',NULL,11392,NULL,NULL,NULL,6,NULL,NULL,NULL),(35560,'NCBI Gene PubMed Count',NULL,11393,NULL,NULL,NULL,13,NULL,NULL,NULL),(35561,'NCBI Gene Summary',NULL,11394,NULL,'This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(35562,'NCBI Gene PubMed Count',NULL,11394,NULL,NULL,NULL,11,NULL,NULL,NULL),(35563,'NCBI Gene PubMed Count',NULL,11395,NULL,NULL,NULL,10,NULL,NULL,NULL),(35564,'NCBI Gene Summary',NULL,11396,NULL,'This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35565,'NCBI Gene PubMed Count',NULL,11396,NULL,NULL,NULL,22,NULL,NULL,NULL),(35566,'NCBI Gene Summary',NULL,11397,NULL,'This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35567,'NCBI Gene PubMed Count',NULL,11397,NULL,NULL,NULL,165,NULL,NULL,NULL),(35568,'NCBI Gene Summary',NULL,11398,NULL,'This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(35569,'NCBI Gene PubMed Count',NULL,11398,NULL,NULL,NULL,72,NULL,NULL,NULL),(35570,'NCBI Gene Summary',NULL,11399,NULL,' Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis.  LDHC is testis-specific and belongs to the lactate dehydrogenase family.  Two transcript variants have been detected which differ in the 5\' untranslated region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35571,'NCBI Gene PubMed Count',NULL,11399,NULL,NULL,NULL,31,NULL,NULL,NULL),(35572,'NCBI Gene PubMed Count',NULL,11400,NULL,NULL,NULL,16,NULL,NULL,NULL),(35573,'NCBI Gene Summary',NULL,11401,NULL,'The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(35574,'NCBI Gene PubMed Count',NULL,11401,NULL,NULL,NULL,706,NULL,NULL,NULL),(35575,'NCBI Gene Summary',NULL,11402,NULL,'The protein encoded by this gene contains a leucine zipper-like motif and a proline-rich region that shares marked similarity with an SH3-binding domain. The protein localizes to the nucleus and is down-regulated in some cancer cell lines. It is thought to regulate the transcriptional response mediated by the nuclear factor kappa B (NF-kappaB). The gene has been proposed as a tumor suppressor gene whose protein product may have an important role in the development and/or progression of some cancers. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35576,'NCBI Gene PubMed Count',NULL,11402,NULL,NULL,NULL,30,NULL,NULL,NULL),(35577,'NCBI Gene PubMed Count',NULL,11403,NULL,NULL,NULL,1,NULL,NULL,NULL),(35578,'NCBI Gene PubMed Count',NULL,11404,NULL,NULL,NULL,7,NULL,NULL,NULL),(35579,'NCBI Gene PubMed Count',NULL,11405,NULL,NULL,NULL,5,NULL,NULL,NULL),(35580,'NCBI Gene Summary',NULL,11406,NULL,'The protein encoded by this gene is a nucleolar protein that interacts with zinc finger 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(35581,'NCBI Gene PubMed Count',NULL,11406,NULL,NULL,NULL,5,NULL,NULL,NULL),(35582,'NCBI Gene PubMed Count',NULL,11407,NULL,NULL,NULL,2,NULL,NULL,NULL),(35583,'NCBI Gene PubMed Count',NULL,11408,NULL,NULL,NULL,4,NULL,NULL,NULL),(35584,'NCBI Gene PubMed Count',NULL,11409,NULL,NULL,NULL,3,NULL,NULL,NULL),(35585,'NCBI Gene PubMed Count',NULL,11410,NULL,NULL,NULL,4,NULL,NULL,NULL),(35586,'NCBI Gene PubMed Count',NULL,11411,NULL,NULL,NULL,5,NULL,NULL,NULL),(35587,'NCBI Gene PubMed Count',NULL,11412,NULL,NULL,NULL,3,NULL,NULL,NULL),(35588,'NCBI Gene PubMed Count',NULL,11413,NULL,NULL,NULL,4,NULL,NULL,NULL),(35589,'NCBI Gene Summary',NULL,11414,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35590,'NCBI Gene PubMed Count',NULL,11414,NULL,NULL,NULL,4,NULL,NULL,NULL),(35591,'NCBI Gene PubMed Count',NULL,11415,NULL,NULL,NULL,2,NULL,NULL,NULL),(35592,'NCBI Gene PubMed Count',NULL,11416,NULL,NULL,NULL,1,NULL,NULL,NULL),(35593,'NCBI Gene PubMed Count',NULL,11417,NULL,NULL,NULL,3,NULL,NULL,NULL),(35594,'NCBI Gene Summary',NULL,11418,NULL,'This gene produces an intronless transcript that is thought to function as a tumor suppressor. This transcript is downregulated in nasopharyngeal carcinoma and is a negative regulator of estrogen receptor signaling. A common polymorphism in this transcript allows the production of a 94 aa open reading frame in some individuals, which may interact directly with estrogen receptor 1 (PMID:15474036). This open reading frame does not exist on the reference genome haplotype, which is hypothesized to function through a non-coding RNA product. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(35595,'NCBI Gene PubMed Count',NULL,11418,NULL,NULL,NULL,18,NULL,NULL,NULL),(35596,'NCBI Gene Summary',NULL,11419,NULL,'Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons.  The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship of LAG3 to CD4. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35597,'NCBI Gene PubMed Count',NULL,11419,NULL,NULL,NULL,55,NULL,NULL,NULL),(35598,'NCBI Gene Summary',NULL,11420,NULL,'The protein encoded by this gene resides in the nucleus and may play a role in the assembly of the nuclear lamina, and thus help maintain the structural organization of the nuclear envelope. It may function as a receptor for the attachment of lamin filaments to the inner nuclear membrane. Mutations in this gene are associated with dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(35599,'NCBI Gene PubMed Count',NULL,11420,NULL,NULL,NULL,58,NULL,NULL,NULL),(35600,'NCBI Gene Summary',NULL,11421,NULL,'Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(35601,'NCBI Gene PubMed Count',NULL,11421,NULL,NULL,NULL,83,NULL,NULL,NULL),(35602,'NCBI Gene Summary',NULL,11422,NULL,'The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5\' and 3\' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(35603,'NCBI Gene PubMed Count',NULL,11422,NULL,NULL,NULL,107,NULL,NULL,NULL),(35604,'NCBI Gene Summary',NULL,11423,NULL,'This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35605,'NCBI Gene PubMed Count',NULL,11423,NULL,NULL,NULL,98,NULL,NULL,NULL),(35606,'NCBI Gene Summary',NULL,11424,NULL,'Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP\'s are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35607,'NCBI Gene PubMed Count',NULL,11424,NULL,NULL,NULL,2640,NULL,NULL,NULL),(35608,'NCBI Gene PubMed Count',NULL,11425,NULL,NULL,NULL,28,NULL,NULL,NULL),(35609,'NCBI Gene Summary',NULL,11426,NULL,'The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(35610,'NCBI Gene PubMed Count',NULL,11426,NULL,NULL,NULL,109,NULL,NULL,NULL),(35611,'NCBI Gene PubMed Count',NULL,11427,NULL,NULL,NULL,7,NULL,NULL,NULL),(35612,'NCBI Gene Summary',NULL,11428,NULL,'This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at high levels in normal and psoriatic skin, but not in cultured keratinocytes or in any other tested cell types or tissues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35613,'NCBI Gene PubMed Count',NULL,11428,NULL,NULL,NULL,6,NULL,NULL,NULL),(35614,'NCBI Gene PubMed Count',NULL,11429,NULL,NULL,NULL,5,NULL,NULL,NULL),(35615,'NCBI Gene PubMed Count',NULL,11430,NULL,NULL,NULL,46,NULL,NULL,NULL),(35616,'NCBI Gene PubMed Count',NULL,11431,NULL,NULL,NULL,36,NULL,NULL,NULL),(35617,'NCBI Gene Summary',NULL,11432,NULL,'The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(35618,'NCBI Gene PubMed Count',NULL,11432,NULL,NULL,NULL,15,NULL,NULL,NULL),(35619,'NCBI Gene Summary',NULL,11433,NULL,'The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35620,'NCBI Gene PubMed Count',NULL,11433,NULL,NULL,NULL,10,NULL,NULL,NULL),(35621,'NCBI Gene Summary',NULL,11434,NULL,'The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:653499) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35622,'NCBI Gene PubMed Count',NULL,11434,NULL,NULL,NULL,55,NULL,NULL,NULL),(35623,'NCBI Gene PubMed Count',NULL,11435,NULL,NULL,NULL,5,NULL,NULL,NULL),(35624,'NCBI Gene PubMed Count',NULL,11436,NULL,NULL,NULL,13,NULL,NULL,NULL),(35625,'NCBI Gene PubMed Count',NULL,11437,NULL,NULL,NULL,17,NULL,NULL,NULL),(35626,'NCBI Gene Summary',NULL,11438,NULL,'This gene encodes a protein containing a ribonuclease NYN domain. The function of this protein has yet to be determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(35627,'NCBI Gene PubMed Count',NULL,11438,NULL,NULL,NULL,10,NULL,NULL,NULL),(35628,'NCBI Gene Summary',NULL,11439,NULL,'Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in this gene are associated with susceptibility to cerebral infarction. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(35629,'NCBI Gene PubMed Count',NULL,11439,NULL,NULL,NULL,96,NULL,NULL,NULL),(35630,'NCBI Gene PubMed Count',NULL,11440,NULL,NULL,NULL,2,NULL,NULL,NULL),(35631,'NCBI Gene PubMed Count',NULL,11441,NULL,NULL,NULL,3,NULL,NULL,NULL),(35632,'NCBI Gene PubMed Count',NULL,11442,NULL,NULL,NULL,1,NULL,NULL,NULL),(35633,'NCBI Gene PubMed Count',NULL,11443,NULL,NULL,NULL,2,NULL,NULL,NULL),(35634,'NCBI Gene PubMed Count',NULL,11444,NULL,NULL,NULL,3,NULL,NULL,NULL),(35635,'NCBI Gene PubMed Count',NULL,11445,NULL,NULL,NULL,2,NULL,NULL,NULL),(35636,'NCBI Gene PubMed Count',NULL,11446,NULL,NULL,NULL,3,NULL,NULL,NULL),(35637,'NCBI Gene PubMed Count',NULL,11447,NULL,NULL,NULL,3,NULL,NULL,NULL),(35638,'NCBI Gene PubMed Count',NULL,11448,NULL,NULL,NULL,2,NULL,NULL,NULL),(35639,'NCBI Gene PubMed Count',NULL,11449,NULL,NULL,NULL,5,NULL,NULL,NULL),(35640,'NCBI Gene PubMed Count',NULL,11450,NULL,NULL,NULL,7,NULL,NULL,NULL),(35641,'NCBI Gene PubMed Count',NULL,11451,NULL,NULL,NULL,7,NULL,NULL,NULL),(35642,'NCBI Gene PubMed Count',NULL,11452,NULL,NULL,NULL,84,NULL,NULL,NULL),(35643,'NCBI Gene PubMed Count',NULL,11453,NULL,NULL,NULL,2,NULL,NULL,NULL),(35644,'NCBI Gene PubMed Count',NULL,11454,NULL,NULL,NULL,2,NULL,NULL,NULL),(35645,'NCBI Gene PubMed Count',NULL,11455,NULL,NULL,NULL,6,NULL,NULL,NULL),(35646,'NCBI Gene PubMed Count',NULL,11456,NULL,NULL,NULL,4,NULL,NULL,NULL),(35647,'NCBI Gene PubMed Count',NULL,11457,NULL,NULL,NULL,10,NULL,NULL,NULL),(35648,'NCBI Gene PubMed Count',NULL,11458,NULL,NULL,NULL,3,NULL,NULL,NULL),(35649,'NCBI Gene Summary',NULL,11459,NULL,'The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(35650,'NCBI Gene PubMed Count',NULL,11459,NULL,NULL,NULL,246,NULL,NULL,NULL),(35651,'NCBI Gene Summary',NULL,11460,NULL,'The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35652,'NCBI Gene PubMed Count',NULL,11460,NULL,NULL,NULL,14,NULL,NULL,NULL),(35653,'NCBI Gene Summary',NULL,11461,NULL,'This gene (MMP23B) encodes a member of the matrix metalloproteinase (MMP) family, and it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. This gene belongs to the more telomeric copy of the duplicated region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35654,'NCBI Gene PubMed Count',NULL,11461,NULL,NULL,NULL,12,NULL,NULL,NULL),(35655,'NCBI Gene Summary',NULL,11462,NULL,'Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(35656,'NCBI Gene PubMed Count',NULL,11462,NULL,NULL,NULL,16,NULL,NULL,NULL),(35657,'NCBI Gene Summary',NULL,11463,NULL,'This gene encodes a protein containing domains found in the La related protein of Drosophila melanogaster. La motif-containing proteins are thought to be RNA-binding proteins, where the La motif and adjacent amino acids fold into an RNA recognition motif. The La motif is also found in proteins unrelated to the La protein. Alternative splicing has been observed at this locus and multiple variants, encoding distinct isoforms, are described. Additional splice variation has been identified but the full-length nature of these transcripts has not been determined. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(35658,'NCBI Gene PubMed Count',NULL,11463,NULL,NULL,NULL,10,NULL,NULL,NULL),(35659,'NCBI Gene PubMed Count',NULL,11464,NULL,NULL,NULL,29,NULL,NULL,NULL),(35660,'NCBI Gene PubMed Count',NULL,11465,NULL,NULL,NULL,23,NULL,NULL,NULL),(35661,'NCBI Gene Summary',NULL,11466,NULL,'This gene shares three exons in common with another gene, chromosome 11 open reading frame 98 (GeneID:102288414), but the encoded protein uses a reading frame that is different from that of the chromosome 11 open reading frame 98 gene. [provided by RefSeq, Nov 2017]',NULL,NULL,NULL,NULL,NULL),(35662,'NCBI Gene PubMed Count',NULL,11466,NULL,NULL,NULL,5,NULL,NULL,NULL),(35663,'NCBI Gene PubMed Count',NULL,11467,NULL,NULL,NULL,0,NULL,NULL,NULL),(35664,'NCBI Gene PubMed Count',NULL,11468,NULL,NULL,NULL,10,NULL,NULL,NULL),(35665,'NCBI Gene PubMed Count',NULL,11469,NULL,NULL,NULL,6,NULL,NULL,NULL),(35666,'NCBI Gene PubMed Count',NULL,11470,NULL,NULL,NULL,2,NULL,NULL,NULL),(35667,'NCBI Gene Summary',NULL,11471,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35668,'NCBI Gene PubMed Count',NULL,11471,NULL,NULL,NULL,137,NULL,NULL,NULL),(35669,'NCBI Gene Summary',NULL,11472,NULL,'This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(35670,'NCBI Gene PubMed Count',NULL,11472,NULL,NULL,NULL,27,NULL,NULL,NULL),(35671,'NCBI Gene Summary',NULL,11473,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the \"framework\" loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35672,'NCBI Gene PubMed Count',NULL,11473,NULL,NULL,NULL,69,NULL,NULL,NULL),(35673,'NCBI Gene PubMed Count',NULL,11474,NULL,NULL,NULL,23,NULL,NULL,NULL),(35674,'NCBI Gene Summary',NULL,11475,NULL,'KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(35675,'NCBI Gene PubMed Count',NULL,11475,NULL,NULL,NULL,38,NULL,NULL,NULL),(35676,'NCBI Gene PubMed Count',NULL,11476,NULL,NULL,NULL,6,NULL,NULL,NULL),(35677,'NCBI Gene PubMed Count',NULL,11477,NULL,NULL,NULL,5,NULL,NULL,NULL),(35678,'NCBI Gene PubMed Count',NULL,11478,NULL,NULL,NULL,42,NULL,NULL,NULL),(35679,'NCBI Gene Summary',NULL,11479,NULL,'This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35680,'NCBI Gene PubMed Count',NULL,11479,NULL,NULL,NULL,73,NULL,NULL,NULL),(35681,'NCBI Gene Summary',NULL,11480,NULL,'The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(35682,'NCBI Gene PubMed Count',NULL,11480,NULL,NULL,NULL,24,NULL,NULL,NULL),(35683,'NCBI Gene Summary',NULL,11481,NULL,'This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35684,'NCBI Gene PubMed Count',NULL,11481,NULL,NULL,NULL,132,NULL,NULL,NULL),(35685,'NCBI Gene Summary',NULL,11482,NULL,'The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(35686,'NCBI Gene PubMed Count',NULL,11482,NULL,NULL,NULL,61,NULL,NULL,NULL),(35687,'NCBI Gene Summary',NULL,11483,NULL,'The protein encoded by this gene is a member of the kinesin-like protein family. Protein family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. However, the particular function of this gene product has not yet been determined. Two alternatively spliced transcript variants which encode products have been described. Other splice variants have been found that lack exon 2 and the initiation codon for translation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35688,'NCBI Gene PubMed Count',NULL,11483,NULL,NULL,NULL,9,NULL,NULL,NULL),(35689,'NCBI Gene PubMed Count',NULL,11484,NULL,NULL,NULL,37,NULL,NULL,NULL),(35690,'NCBI Gene Summary',NULL,11485,NULL,'This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(35691,'NCBI Gene PubMed Count',NULL,11485,NULL,NULL,NULL,23,NULL,NULL,NULL),(35692,'NCBI Gene Summary',NULL,11486,NULL,'This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(35693,'NCBI Gene PubMed Count',NULL,11486,NULL,NULL,NULL,20,NULL,NULL,NULL),(35694,'NCBI Gene Summary',NULL,11487,NULL,'This gene encodes a member of the kinesin superfamily. Kinesins are ATP-dependent microtubule-based motor proteins that are involved in the intracellular transport of membranous organelles. Single nucleotide polymorphisms in this gene are associated with inflammatory bowel disease and multiple sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(35695,'NCBI Gene PubMed Count',NULL,11487,NULL,NULL,NULL,17,NULL,NULL,NULL),(35696,'NCBI Gene PubMed Count',NULL,11488,NULL,NULL,NULL,9,NULL,NULL,NULL),(35697,'NCBI Gene PubMed Count',NULL,11489,NULL,NULL,NULL,6,NULL,NULL,NULL),(35698,'NCBI Gene Summary',NULL,11490,NULL,'This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren\'s syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(35699,'NCBI Gene PubMed Count',NULL,11490,NULL,NULL,NULL,26,NULL,NULL,NULL),(35700,'NCBI Gene Summary',NULL,11491,NULL,'This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(35701,'NCBI Gene PubMed Count',NULL,11491,NULL,NULL,NULL,9,NULL,NULL,NULL),(35702,'NCBI Gene Summary',NULL,11492,NULL,'The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(35703,'NCBI Gene PubMed Count',NULL,11492,NULL,NULL,NULL,6,NULL,NULL,NULL),(35704,'NCBI Gene PubMed Count',NULL,11493,NULL,NULL,NULL,10,NULL,NULL,NULL),(35705,'NCBI Gene Summary',NULL,11494,NULL,'The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35706,'NCBI Gene PubMed Count',NULL,11494,NULL,NULL,NULL,19,NULL,NULL,NULL),(35707,'NCBI Gene PubMed Count',NULL,11495,NULL,NULL,NULL,13,NULL,NULL,NULL),(35708,'NCBI Gene Summary',NULL,11496,NULL,'This locus represents naturally occurring read-through transcription between the neighboring PHOSPHO2 (phosphatase, orphan 2) and KLHL23 (kelch-like 23) genes on chromosome 2. The read-through transcript includes only non-coding PHOSPHO2 exons, and thus encodes the KLHL23 protein. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(35709,'NCBI Gene PubMed Count',NULL,11496,NULL,NULL,NULL,4,NULL,NULL,NULL),(35710,'NCBI Gene Summary',NULL,11497,NULL,'The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(35711,'NCBI Gene PubMed Count',NULL,11497,NULL,NULL,NULL,11,NULL,NULL,NULL),(35712,'NCBI Gene Summary',NULL,11498,NULL,'KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(35713,'NCBI Gene PubMed Count',NULL,11498,NULL,NULL,NULL,13,NULL,NULL,NULL),(35714,'NCBI Gene PubMed Count',NULL,11499,NULL,NULL,NULL,4,NULL,NULL,NULL),(35715,'NCBI Gene Summary',NULL,11500,NULL,'This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(35716,'NCBI Gene PubMed Count',NULL,11500,NULL,NULL,NULL,24,NULL,NULL,NULL),(35717,'NCBI Gene PubMed Count',NULL,11501,NULL,NULL,NULL,3,NULL,NULL,NULL),(35718,'NCBI Gene PubMed Count',NULL,11502,NULL,NULL,NULL,16,NULL,NULL,NULL),(35719,'NCBI Gene Summary',NULL,11503,NULL,'Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Expression of this gene is regulated by steroid hormones and may be useful as a marker for breast cancer. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(35720,'NCBI Gene PubMed Count',NULL,11503,NULL,NULL,NULL,37,NULL,NULL,NULL),(35721,'NCBI Gene Summary',NULL,11504,NULL,'Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from low molecular weight kininogen. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35722,'NCBI Gene PubMed Count',NULL,11504,NULL,NULL,NULL,114,NULL,NULL,NULL),(35723,'NCBI Gene Summary',NULL,11505,NULL,'Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35724,'NCBI Gene PubMed Count',NULL,11505,NULL,NULL,NULL,57,NULL,NULL,NULL),(35725,'NCBI Gene Summary',NULL,11506,NULL,'This gene encodes a member of the grandular kallikrein protein family. Kallikreins are a subgroup of serine proteases that are clustered on chromosome 19. Members of this family are involved in a diverse array of biological functions. The protein encoded by this gene is a highly active trypsin-like serine protease that selectively cleaves at arginine residues. This protein is primarily expressed in prostatic tissue and is responsible for cleaving pro-prostate-specific antigen into its enzymatically active form. This gene is highly expressed in prostate tumor cells and may be a prognostic maker for prostate cancer risk. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(35726,'NCBI Gene PubMed Count',NULL,11506,NULL,NULL,NULL,77,NULL,NULL,NULL),(35727,'NCBI Gene Summary',NULL,11507,NULL,'Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its protein product is a protease present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. Serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35728,'NCBI Gene PubMed Count',NULL,11507,NULL,NULL,NULL,414,NULL,NULL,NULL),(35729,'NCBI Gene Summary',NULL,11508,NULL,'Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its expression is up-regulated by estrogens and progestins. The encoded protein is secreted and may be involved in desquamation in the epidermis. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35730,'NCBI Gene PubMed Count',NULL,11508,NULL,NULL,NULL,61,NULL,NULL,NULL),(35731,'NCBI Gene Summary',NULL,11509,NULL,'This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(35732,'NCBI Gene PubMed Count',NULL,11509,NULL,NULL,NULL,9,NULL,NULL,NULL),(35733,'NCBI Gene PubMed Count',NULL,11510,NULL,NULL,NULL,2,NULL,NULL,NULL),(35734,'NCBI Gene PubMed Count',NULL,11511,NULL,NULL,NULL,0,NULL,NULL,NULL),(35735,'NCBI Gene Summary',NULL,11512,NULL,'The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(35736,'NCBI Gene PubMed Count',NULL,11512,NULL,NULL,NULL,177,NULL,NULL,NULL),(35737,'NCBI Gene Summary',NULL,11513,NULL,'This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3\'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(35738,'NCBI Gene PubMed Count',NULL,11513,NULL,NULL,NULL,157,NULL,NULL,NULL),(35739,'NCBI Gene PubMed Count',NULL,11514,NULL,NULL,NULL,52,NULL,NULL,NULL),(35740,'NCBI Gene Summary',NULL,11515,NULL,'This gene encodes a member of the kinesin 4 subfamily of kinesin related proteins. The encoded protein is an ATP dependent microtubule-based motor protein that is involved in the intracellular transport of membranous organelles. This protein also associates with condensed chromosome arms and may be involved in maintaining chromosome integrity during mitosis. This protein may also be involved in the organization of the central spindle prior to cytokinesis. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(35741,'NCBI Gene PubMed Count',NULL,11515,NULL,NULL,NULL,46,NULL,NULL,NULL),(35742,'NCBI Gene Summary',NULL,11516,NULL,'This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(35743,'NCBI Gene PubMed Count',NULL,11516,NULL,NULL,NULL,89,NULL,NULL,NULL),(35744,'NCBI Gene Summary',NULL,11517,NULL,'The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(35745,'NCBI Gene PubMed Count',NULL,11517,NULL,NULL,NULL,20,NULL,NULL,NULL),(35746,'NCBI Gene Summary',NULL,11518,NULL,'This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(35747,'NCBI Gene PubMed Count',NULL,11518,NULL,NULL,NULL,21,NULL,NULL,NULL),(35748,'NCBI Gene Summary',NULL,11519,NULL,'The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 \'Armadillo\' repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(35749,'NCBI Gene PubMed Count',NULL,11519,NULL,NULL,NULL,32,NULL,NULL,NULL),(35750,'NCBI Gene PubMed Count',NULL,11520,NULL,NULL,NULL,7,NULL,NULL,NULL),(35751,'NCBI Gene Summary',NULL,11521,NULL,'The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can fold into a beta-propeller domain when multiple kelch repeats are found together. Mutations in this gene have been associated with oligozoospermia in some infertile males. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(35752,'NCBI Gene PubMed Count',NULL,11521,NULL,NULL,NULL,9,NULL,NULL,NULL),(35753,'NCBI Gene Summary',NULL,11522,NULL,'This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(35754,'NCBI Gene PubMed Count',NULL,11522,NULL,NULL,NULL,12,NULL,NULL,NULL),(35755,'NCBI Gene Summary',NULL,11523,NULL,'The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch domains and localizes to the endoplasmic reticulum, where it interacts with torsin-1A. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(35756,'NCBI Gene PubMed Count',NULL,11523,NULL,NULL,NULL,8,NULL,NULL,NULL),(35757,'NCBI Gene PubMed Count',NULL,11524,NULL,NULL,NULL,11,NULL,NULL,NULL),(35758,'NCBI Gene PubMed Count',NULL,11525,NULL,NULL,NULL,16,NULL,NULL,NULL),(35759,'NCBI Gene Summary',NULL,11526,NULL,'The protein encoded by this gene is a kallikrein-related serine protease. This gene is activated by steroid hormones in a human breast cancer cell line, making it a good marker for cancer detection. The encoded protein is found primarily in the cytoplasm.[provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(35760,'NCBI Gene PubMed Count',NULL,11526,NULL,NULL,NULL,15,NULL,NULL,NULL),(35761,'NCBI Gene Summary',NULL,11527,NULL,'This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(35762,'NCBI Gene PubMed Count',NULL,11527,NULL,NULL,NULL,73,NULL,NULL,NULL),(35763,'NCBI Gene Summary',NULL,11528,NULL,'Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(35764,'NCBI Gene PubMed Count',NULL,11528,NULL,NULL,NULL,36,NULL,NULL,NULL),(35765,'NCBI Gene Summary',NULL,11529,NULL,'This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(35766,'NCBI Gene PubMed Count',NULL,11529,NULL,NULL,NULL,12,NULL,NULL,NULL),(35767,'NCBI Gene Summary',NULL,11530,NULL,'Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(35768,'NCBI Gene PubMed Count',NULL,11530,NULL,NULL,NULL,8,NULL,NULL,NULL),(35769,'NCBI Gene Summary',NULL,11531,NULL,'Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In prostate cancer, this gene has increased expression, which indicates its possible use as a diagnostic or prognostic marker for prostate cancer. The gene contains multiple polyadenylation sites and alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35770,'NCBI Gene PubMed Count',NULL,11531,NULL,NULL,NULL,40,NULL,NULL,NULL),(35771,'NCBI Gene Summary',NULL,11532,NULL,'This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The encoded preproprotein is proteolytically processed to generate the mature protease. Expression of this protease is regulated by steroid hormones and may be elevated in multiple human cancers and in serum from psoriasis patients. The encoded protease may participate in the cleavage of amyloid precursor protein and alpha-synuclein, thus implicating this protease in Alzheimer\'s and Parkinson\'s disease, respectively. This gene is located in a gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(35772,'NCBI Gene PubMed Count',NULL,11532,NULL,NULL,NULL,101,NULL,NULL,NULL),(35773,'NCBI Gene Summary',NULL,11533,NULL,'Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in tandem in a gene cluster on chromosome 19. The encoded protein may be involved in proteolytic cascade in the skin and may serve as a biomarker for ovarian cancer. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(35774,'NCBI Gene PubMed Count',NULL,11533,NULL,NULL,NULL,42,NULL,NULL,NULL),(35775,'NCBI Gene Summary',NULL,11534,NULL,'The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(35776,'NCBI Gene PubMed Count',NULL,11534,NULL,NULL,NULL,9,NULL,NULL,NULL),(35777,'NCBI Gene Summary',NULL,11535,NULL,'This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(35778,'NCBI Gene PubMed Count',NULL,11535,NULL,NULL,NULL,7,NULL,NULL,NULL),(35779,'NCBI Gene Summary',NULL,11536,NULL,'This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehyde-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35780,'NCBI Gene PubMed Count',NULL,11536,NULL,NULL,NULL,154,NULL,NULL,NULL),(35781,'NCBI Gene Summary',NULL,11537,NULL,'This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(35782,'NCBI Gene PubMed Count',NULL,11537,NULL,NULL,NULL,20,NULL,NULL,NULL),(35783,'NCBI Gene Summary',NULL,11538,NULL,'This gene encodes a member of the B subfamily of the melanoma associated antigen protein family. The encoded protein is specifically expressed in testis and tumor cells. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(35784,'NCBI Gene PubMed Count',NULL,11538,NULL,NULL,NULL,4,NULL,NULL,NULL),(35785,'NCBI Gene Summary',NULL,11539,NULL,'This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of FGF19 in a human intestinal cell line and may regulate bile acid metabolism in the liver. A synergistic interaction between an allele of this gene and the APOE E4 allele is associated with an elevated risk of Alzheimer\'s disease in human patients. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(35786,'NCBI Gene PubMed Count',NULL,11539,NULL,NULL,NULL,12,NULL,NULL,NULL),(35787,'NCBI Gene Summary',NULL,11540,NULL,'This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35788,'NCBI Gene PubMed Count',NULL,11540,NULL,NULL,NULL,49,NULL,NULL,NULL),(35789,'NCBI Gene Summary',NULL,11541,NULL,'The protein encoded by this gene is a member of the mitogen-activated protein kinase (MAPK) family. These family members function in a protein kinase signal transduction cascade, where an activated MAPK kinase kinase (MAP3K) phosphorylates and activates a specific MAPK kinase (MAP2K), which then activates a specific MAPK. This MAP3K protein plays an essential role in apoptotic cell death triggered by cellular stresses. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(35790,'NCBI Gene PubMed Count',NULL,11541,NULL,NULL,NULL,8,NULL,NULL,NULL),(35791,'NCBI Gene Summary',NULL,11542,NULL,'This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(35792,'NCBI Gene PubMed Count',NULL,11542,NULL,NULL,NULL,27,NULL,NULL,NULL),(35793,'NCBI Gene PubMed Count',NULL,11543,NULL,NULL,NULL,6,NULL,NULL,NULL),(35794,'NCBI Gene PubMed Count',NULL,11544,NULL,NULL,NULL,1,NULL,NULL,NULL),(35795,'NCBI Gene PubMed Count',NULL,11545,NULL,NULL,NULL,26,NULL,NULL,NULL),(35796,'NCBI Gene Summary',NULL,11546,NULL,'This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(35797,'NCBI Gene PubMed Count',NULL,11546,NULL,NULL,NULL,84,NULL,NULL,NULL),(35798,'NCBI Gene Summary',NULL,11547,NULL,'This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(35799,'NCBI Gene PubMed Count',NULL,11547,NULL,NULL,NULL,49,NULL,NULL,NULL),(35800,'NCBI Gene Summary',NULL,11548,NULL,'This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(35801,'NCBI Gene PubMed Count',NULL,11548,NULL,NULL,NULL,150,NULL,NULL,NULL),(35802,'NCBI Gene Summary',NULL,11549,NULL,'The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(35803,'NCBI Gene PubMed Count',NULL,11549,NULL,NULL,NULL,10,NULL,NULL,NULL),(35804,'NCBI Gene Summary',NULL,11550,NULL,'The protein encoded by this gene is a member of the methionyl aminopeptidase family. The encoded protein functions both by protecting the alpha subunit of eukaryotic initiation factor 2 from inhibitory phosphorylation and by removing the amino-terminal methionine residue from nascent proteins. Increased expression of this gene is associated with various forms of cancer, and the anti-cancer drugs fumagillin and ovalicin inhibit the protein by irreversibly binding to its active site. Inhibitors of this gene have also been shown to be effective for the treatment of obesity. A pseudogene of this gene is located on chromosome 2. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(35805,'NCBI Gene PubMed Count',NULL,11550,NULL,NULL,NULL,47,NULL,NULL,NULL),(35806,'NCBI Gene PubMed Count',NULL,11551,NULL,NULL,NULL,129,NULL,NULL,NULL),(35807,'NCBI Gene Summary',NULL,11552,NULL,'MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(35808,'NCBI Gene PubMed Count',NULL,11552,NULL,NULL,NULL,17,NULL,NULL,NULL),(35809,'NCBI Gene Summary',NULL,11553,NULL,'This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral immunity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(35810,'NCBI Gene PubMed Count',NULL,11553,NULL,NULL,NULL,183,NULL,NULL,NULL),(35811,'NCBI Gene Summary',NULL,11554,NULL,'This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(35812,'NCBI Gene PubMed Count',NULL,11554,NULL,NULL,NULL,20,NULL,NULL,NULL),(35813,'NCBI Gene PubMed Count',NULL,11555,NULL,NULL,NULL,54,NULL,NULL,NULL),(35814,'NCBI Gene Summary',NULL,11556,NULL,'The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(35815,'NCBI Gene PubMed Count',NULL,11556,NULL,NULL,NULL,18,NULL,NULL,NULL),(35816,'NCBI Gene Summary',NULL,11557,NULL,'This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(35817,'NCBI Gene PubMed Count',NULL,11557,NULL,NULL,NULL,15,NULL,NULL,NULL),(35818,'NCBI Gene PubMed Count',NULL,11558,NULL,NULL,NULL,21,NULL,NULL,NULL),(35819,'NCBI Gene Summary',NULL,11559,NULL,'This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(35820,'NCBI Gene PubMed Count',NULL,11559,NULL,NULL,NULL,22,NULL,NULL,NULL),(35821,'NCBI Gene Summary',NULL,11560,NULL,'This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(35822,'NCBI Gene PubMed Count',NULL,11560,NULL,NULL,NULL,37,NULL,NULL,NULL),(35823,'NCBI Gene Summary',NULL,11561,NULL,'The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35824,'NCBI Gene PubMed Count',NULL,11561,NULL,NULL,NULL,79,NULL,NULL,NULL),(35825,'NCBI Gene Summary',NULL,11562,NULL,'The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35826,'NCBI Gene PubMed Count',NULL,11562,NULL,NULL,NULL,32,NULL,NULL,NULL),(35827,'NCBI Gene Summary',NULL,11563,NULL,'The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35828,'NCBI Gene PubMed Count',NULL,11563,NULL,NULL,NULL,74,NULL,NULL,NULL),(35829,'NCBI Gene Summary',NULL,11564,NULL,'MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate.  MAD2L1 is related to the MAD2L2 gene located on chromosome 1.  A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35830,'NCBI Gene PubMed Count',NULL,11564,NULL,NULL,NULL,190,NULL,NULL,NULL),(35831,'NCBI Gene Summary',NULL,11565,NULL,'The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35832,'NCBI Gene PubMed Count',NULL,11565,NULL,NULL,NULL,116,NULL,NULL,NULL),(35833,'NCBI Gene Summary',NULL,11566,NULL,'The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35834,'NCBI Gene PubMed Count',NULL,11566,NULL,NULL,NULL,59,NULL,NULL,NULL),(35835,'NCBI Gene PubMed Count',NULL,11567,NULL,NULL,NULL,26,NULL,NULL,NULL),(35836,'NCBI Gene Summary',NULL,11568,NULL,'The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35837,'NCBI Gene PubMed Count',NULL,11568,NULL,NULL,NULL,20,NULL,NULL,NULL),(35838,'NCBI Gene PubMed Count',NULL,11569,NULL,NULL,NULL,1,NULL,NULL,NULL),(35839,'NCBI Gene Summary',NULL,11570,NULL,'The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(35840,'NCBI Gene PubMed Count',NULL,11570,NULL,NULL,NULL,148,NULL,NULL,NULL),(35841,'NCBI Gene Summary',NULL,11571,NULL,'This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(35842,'NCBI Gene PubMed Count',NULL,11571,NULL,NULL,NULL,32,NULL,NULL,NULL),(35843,'NCBI Gene Summary',NULL,11572,NULL,'The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35844,'NCBI Gene PubMed Count',NULL,11572,NULL,NULL,NULL,36,NULL,NULL,NULL),(35845,'NCBI Gene PubMed Count',NULL,11573,NULL,NULL,NULL,20,NULL,NULL,NULL),(35846,'NCBI Gene Summary',NULL,11574,NULL,'The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(35847,'NCBI Gene PubMed Count',NULL,11574,NULL,NULL,NULL,129,NULL,NULL,NULL),(35848,'NCBI Gene Summary',NULL,11575,NULL,'The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35849,'NCBI Gene PubMed Count',NULL,11575,NULL,NULL,NULL,109,NULL,NULL,NULL),(35850,'NCBI Gene Summary',NULL,11576,NULL,'This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. A mutation in this gene has been associated with a novel infantile-onset neurodegenerative movement disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(35851,'NCBI Gene PubMed Count',NULL,11576,NULL,NULL,NULL,17,NULL,NULL,NULL),(35852,'NCBI Gene Summary',NULL,11577,NULL,'The protein encoded by this gene is a nuclear-encoded GTPase that functions in the mitochondrion. Upon translation, this protein is imported into the nucleus and then into the nucleolus before being exported to the mitochondrion. The encoded protein is required for oxygen-dependent regulation of mitochondrial respiratory complexes and for mitochondrial protein synthesis. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(35853,'NCBI Gene PubMed Count',NULL,11577,NULL,NULL,NULL,15,NULL,NULL,NULL),(35854,'NCBI Gene Summary',NULL,11578,NULL,'The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35855,'NCBI Gene PubMed Count',NULL,11578,NULL,NULL,NULL,17,NULL,NULL,NULL),(35856,'NCBI Gene Summary',NULL,11579,NULL,'This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35857,'NCBI Gene PubMed Count',NULL,11579,NULL,NULL,NULL,30,NULL,NULL,NULL),(35858,'NCBI Gene Summary',NULL,11580,NULL,'The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(35859,'NCBI Gene PubMed Count',NULL,11580,NULL,NULL,NULL,15,NULL,NULL,NULL),(35860,'NCBI Gene PubMed Count',NULL,11581,NULL,NULL,NULL,17,NULL,NULL,NULL),(35861,'NCBI Gene PubMed Count',NULL,11582,NULL,NULL,NULL,27,NULL,NULL,NULL),(35862,'NCBI Gene PubMed Count',NULL,11583,NULL,NULL,NULL,12,NULL,NULL,NULL),(35863,'NCBI Gene Summary',NULL,11584,NULL,'The protein encoded by this gene is highly similar to Nocturnin, a gene identified as a circadian clock regulated gene in Xenopus laevis. This protein and Nocturnin protein share similarity with the C-terminal domain of a yeast transcription factor, carbon catabolite repression 4 (CCR4). The mRNA abundance of a similar gene in mouse has been shown to exhibit circadian rhythmicity, which suggests a role for this protein in clock function or as a circadian clock effector. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35864,'NCBI Gene PubMed Count',NULL,11584,NULL,NULL,NULL,12,NULL,NULL,NULL),(35865,'NCBI Gene Summary',NULL,11585,NULL,'This gene encodes a protein that plays a role in pre-18s rRNA processing and small ribosomal subunit assembly. The encoded protein may be involved in the regulation of pancreatic cancer cell proliferation and migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(35866,'NCBI Gene PubMed Count',NULL,11585,NULL,NULL,NULL,16,NULL,NULL,NULL),(35867,'NCBI Gene Summary',NULL,11586,NULL,'This gene encodes a protein that is localized to the nucleolus. Expression of this gene is induced by estrogens and Myc protein and is a marker of poor patient survival in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(35868,'NCBI Gene PubMed Count',NULL,11586,NULL,NULL,NULL,17,NULL,NULL,NULL),(35869,'NCBI Gene PubMed Count',NULL,11587,NULL,NULL,NULL,29,NULL,NULL,NULL),(35870,'NCBI Gene PubMed Count',NULL,11588,NULL,NULL,NULL,48,NULL,NULL,NULL),(35871,'NCBI Gene Summary',NULL,11589,NULL,'Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Expansion of a GGCCTG repeat from 3-8 copies to 1500-2500 copies in an intron of this gene results in spinocerebellar ataxia 36. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(35872,'NCBI Gene PubMed Count',NULL,11589,NULL,NULL,NULL,34,NULL,NULL,NULL),(35873,'NCBI Gene Summary',NULL,11590,NULL,'The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on GeneID 4207. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(35874,'NCBI Gene PubMed Count',NULL,11590,NULL,NULL,NULL,34,NULL,NULL,NULL),(35875,'NCBI Gene Summary',NULL,11591,NULL,'This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(35876,'NCBI Gene PubMed Count',NULL,11591,NULL,NULL,NULL,156,NULL,NULL,NULL),(35877,'NCBI Gene PubMed Count',NULL,11592,NULL,NULL,NULL,6,NULL,NULL,NULL),(35878,'NCBI Gene Summary',NULL,11593,NULL,'The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(35879,'NCBI Gene PubMed Count',NULL,11593,NULL,NULL,NULL,12,NULL,NULL,NULL),(35880,'NCBI Gene PubMed Count',NULL,11594,NULL,NULL,NULL,8,NULL,NULL,NULL),(35881,'NCBI Gene PubMed Count',NULL,11595,NULL,NULL,NULL,3,NULL,NULL,NULL),(35882,'NCBI Gene Summary',NULL,11596,NULL,'This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35883,'NCBI Gene PubMed Count',NULL,11596,NULL,NULL,NULL,54,NULL,NULL,NULL),(35884,'NCBI Gene Summary',NULL,11597,NULL,'The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35885,'NCBI Gene PubMed Count',NULL,11597,NULL,NULL,NULL,23,NULL,NULL,NULL),(35886,'NCBI Gene Summary',NULL,11598,NULL,'This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(35887,'NCBI Gene PubMed Count',NULL,11598,NULL,NULL,NULL,23,NULL,NULL,NULL),(35888,'NCBI Gene Summary',NULL,11599,NULL,'This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35889,'NCBI Gene PubMed Count',NULL,11599,NULL,NULL,NULL,30,NULL,NULL,NULL),(35890,'NCBI Gene PubMed Count',NULL,11600,NULL,NULL,NULL,11,NULL,NULL,NULL),(35891,'NCBI Gene PubMed Count',NULL,11601,NULL,NULL,NULL,5,NULL,NULL,NULL),(35892,'NCBI Gene PubMed Count',NULL,11602,NULL,NULL,NULL,9,NULL,NULL,NULL),(35893,'NCBI Gene Summary',NULL,11603,NULL,'Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(35894,'NCBI Gene PubMed Count',NULL,11603,NULL,NULL,NULL,19,NULL,NULL,NULL),(35895,'NCBI Gene Summary',NULL,11604,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35896,'NCBI Gene PubMed Count',NULL,11604,NULL,NULL,NULL,1,NULL,NULL,NULL),(35897,'NCBI Gene Summary',NULL,11605,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35898,'NCBI Gene PubMed Count',NULL,11605,NULL,NULL,NULL,4,NULL,NULL,NULL),(35899,'NCBI Gene Summary',NULL,11606,NULL,'This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(35900,'NCBI Gene PubMed Count',NULL,11606,NULL,NULL,NULL,15,NULL,NULL,NULL),(35901,'NCBI Gene Summary',NULL,11607,NULL,'This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(35902,'NCBI Gene PubMed Count',NULL,11607,NULL,NULL,NULL,23,NULL,NULL,NULL),(35903,'NCBI Gene Summary',NULL,11608,NULL,'Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerols, the precursor of physiologically important lipids such as triacylglycerol and phospholipids (Yen et al., 2002 [PubMed 12077311]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(35904,'NCBI Gene PubMed Count',NULL,11608,NULL,NULL,NULL,4,NULL,NULL,NULL),(35905,'NCBI Gene Summary',NULL,11609,NULL,'The protein encoded by this gene is an enzyme that catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. The encoded protein is important in the uptake of dietary fat by the small intestine. This protein forms a complex with diacylglycerol O-acyltransferase 2 in the endoplasmic reticulum, and this complex catalyzes the synthesis of triacylglycerol. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(35906,'NCBI Gene PubMed Count',NULL,11609,NULL,NULL,NULL,22,NULL,NULL,NULL),(35907,'NCBI Gene PubMed Count',NULL,11610,NULL,NULL,NULL,17,NULL,NULL,NULL),(35908,'NCBI Gene Summary',NULL,11611,NULL,'This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP citrate lyase via specific interaction with this enzyme in the cytosol of lipogenic breast cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(35909,'NCBI Gene PubMed Count',NULL,11611,NULL,NULL,NULL,28,NULL,NULL,NULL),(35910,'NCBI Gene Summary',NULL,11612,NULL,'This gene encodes a protein that localizes to the nuclear matrix and forms nuclear bodies via an ATP-dependent mechanism. The protein is predicted to have coiled-coil and zinc finger domains and has RNA binding activity. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(35911,'NCBI Gene PubMed Count',NULL,11612,NULL,NULL,NULL,24,NULL,NULL,NULL),(35912,'NCBI Gene PubMed Count',NULL,11613,NULL,NULL,NULL,5,NULL,NULL,NULL),(35913,'NCBI Gene PubMed Count',NULL,11614,NULL,NULL,NULL,3,NULL,NULL,NULL),(35914,'NCBI Gene PubMed Count',NULL,11615,NULL,NULL,NULL,49,NULL,NULL,NULL),(35915,'NCBI Gene Summary',NULL,11616,NULL,'This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(35916,'NCBI Gene PubMed Count',NULL,11616,NULL,NULL,NULL,67,NULL,NULL,NULL),(35917,'NCBI Gene Summary',NULL,11617,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35918,'NCBI Gene PubMed Count',NULL,11617,NULL,NULL,NULL,6,NULL,NULL,NULL),(35919,'NCBI Gene Summary',NULL,11618,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35920,'NCBI Gene PubMed Count',NULL,11618,NULL,NULL,NULL,4,NULL,NULL,NULL),(35921,'NCBI Gene PubMed Count',NULL,11619,NULL,NULL,NULL,8,NULL,NULL,NULL),(35922,'NCBI Gene Summary',NULL,11620,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35923,'NCBI Gene PubMed Count',NULL,11620,NULL,NULL,NULL,4,NULL,NULL,NULL),(35924,'NCBI Gene Summary',NULL,11621,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35925,'NCBI Gene PubMed Count',NULL,11621,NULL,NULL,NULL,5,NULL,NULL,NULL),(35926,'NCBI Gene Summary',NULL,11622,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35927,'NCBI Gene PubMed Count',NULL,11622,NULL,NULL,NULL,6,NULL,NULL,NULL),(35928,'NCBI Gene Summary',NULL,11623,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35929,'NCBI Gene PubMed Count',NULL,11623,NULL,NULL,NULL,3,NULL,NULL,NULL),(35930,'NCBI Gene Summary',NULL,11624,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35931,'NCBI Gene PubMed Count',NULL,11624,NULL,NULL,NULL,5,NULL,NULL,NULL),(35932,'NCBI Gene Summary',NULL,11625,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35933,'NCBI Gene PubMed Count',NULL,11625,NULL,NULL,NULL,14,NULL,NULL,NULL),(35934,'NCBI Gene PubMed Count',NULL,11626,NULL,NULL,NULL,24,NULL,NULL,NULL),(35935,'NCBI Gene Summary',NULL,11627,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35936,'NCBI Gene PubMed Count',NULL,11627,NULL,NULL,NULL,2,NULL,NULL,NULL),(35937,'NCBI Gene Summary',NULL,11628,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. Although originally considered to be a functional olfactory receptor, this family member is now considered to be pseudogene due to the presence of a C-terminal frameshift compared to other family members; this is also consistent with the Classifier for Olfactory Receptor Pseudogenes (CORP), as described in PMID:16939646. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(35938,'NCBI Gene PubMed Count',NULL,11628,NULL,NULL,NULL,3,NULL,NULL,NULL),(35939,'NCBI Gene Summary',NULL,11629,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(35940,'NCBI Gene PubMed Count',NULL,11629,NULL,NULL,NULL,8,NULL,NULL,NULL),(35941,'NCBI Gene Summary',NULL,11630,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35942,'NCBI Gene PubMed Count',NULL,11630,NULL,NULL,NULL,2,NULL,NULL,NULL),(35943,'NCBI Gene Summary',NULL,11631,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35944,'NCBI Gene PubMed Count',NULL,11631,NULL,NULL,NULL,4,NULL,NULL,NULL),(35945,'NCBI Gene Summary',NULL,11632,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35946,'NCBI Gene PubMed Count',NULL,11632,NULL,NULL,NULL,2,NULL,NULL,NULL),(35947,'NCBI Gene Summary',NULL,11633,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(35948,'NCBI Gene PubMed Count',NULL,11633,NULL,NULL,NULL,4,NULL,NULL,NULL),(35949,'NCBI Gene Summary',NULL,11634,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35950,'NCBI Gene PubMed Count',NULL,11634,NULL,NULL,NULL,4,NULL,NULL,NULL),(35951,'NCBI Gene Summary',NULL,11635,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(35952,'NCBI Gene PubMed Count',NULL,11635,NULL,NULL,NULL,4,NULL,NULL,NULL),(35953,'NCBI Gene Summary',NULL,11636,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35954,'NCBI Gene PubMed Count',NULL,11636,NULL,NULL,NULL,3,NULL,NULL,NULL),(35955,'NCBI Gene Summary',NULL,11637,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35956,'NCBI Gene PubMed Count',NULL,11637,NULL,NULL,NULL,2,NULL,NULL,NULL),(35957,'NCBI Gene Summary',NULL,11638,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35958,'NCBI Gene PubMed Count',NULL,11638,NULL,NULL,NULL,3,NULL,NULL,NULL),(35959,'NCBI Gene Summary',NULL,11639,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35960,'NCBI Gene PubMed Count',NULL,11639,NULL,NULL,NULL,1,NULL,NULL,NULL),(35961,'NCBI Gene Summary',NULL,11640,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(35962,'NCBI Gene PubMed Count',NULL,11640,NULL,NULL,NULL,6,NULL,NULL,NULL),(35963,'NCBI Gene Summary',NULL,11641,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35964,'NCBI Gene PubMed Count',NULL,11641,NULL,NULL,NULL,4,NULL,NULL,NULL),(35965,'NCBI Gene Summary',NULL,11642,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35966,'NCBI Gene PubMed Count',NULL,11642,NULL,NULL,NULL,1,NULL,NULL,NULL),(35967,'NCBI Gene Summary',NULL,11643,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35968,'NCBI Gene PubMed Count',NULL,11643,NULL,NULL,NULL,4,NULL,NULL,NULL),(35969,'NCBI Gene Summary',NULL,11644,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35970,'NCBI Gene PubMed Count',NULL,11644,NULL,NULL,NULL,2,NULL,NULL,NULL),(35971,'NCBI Gene Summary',NULL,11645,NULL,'Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(35972,'NCBI Gene PubMed Count',NULL,11645,NULL,NULL,NULL,28,NULL,NULL,NULL),(35973,'NCBI Gene Summary',NULL,11646,NULL,'CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35974,'NCBI Gene PubMed Count',NULL,11646,NULL,NULL,NULL,155,NULL,NULL,NULL),(35975,'NCBI Gene PubMed Count',NULL,11647,NULL,NULL,NULL,11,NULL,NULL,NULL),(35976,'NCBI Gene PubMed Count',NULL,11648,NULL,NULL,NULL,2,NULL,NULL,NULL),(35977,'NCBI Gene Summary',NULL,11649,NULL,'The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(35978,'NCBI Gene PubMed Count',NULL,11649,NULL,NULL,NULL,22,NULL,NULL,NULL),(35979,'NCBI Gene Summary',NULL,11650,NULL,'This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(35980,'NCBI Gene PubMed Count',NULL,11650,NULL,NULL,NULL,17,NULL,NULL,NULL),(35981,'NCBI Gene Summary',NULL,11651,NULL,'This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35982,'NCBI Gene PubMed Count',NULL,11651,NULL,NULL,NULL,17,NULL,NULL,NULL),(35983,'NCBI Gene PubMed Count',NULL,11652,NULL,NULL,NULL,8,NULL,NULL,NULL),(35984,'NCBI Gene Summary',NULL,11653,NULL,'This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2\'-specific nucleotidyl transfer reactions to synthesize 2\',5\'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35985,'NCBI Gene PubMed Count',NULL,11653,NULL,NULL,NULL,38,NULL,NULL,NULL),(35986,'NCBI Gene Summary',NULL,11654,NULL,'This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(35987,'NCBI Gene PubMed Count',NULL,11654,NULL,NULL,NULL,27,NULL,NULL,NULL),(35988,'NCBI Gene Summary',NULL,11655,NULL,'This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35989,'NCBI Gene PubMed Count',NULL,11655,NULL,NULL,NULL,33,NULL,NULL,NULL),(35990,'NCBI Gene PubMed Count',NULL,11656,NULL,NULL,NULL,7,NULL,NULL,NULL),(35991,'NCBI Gene Summary',NULL,11657,NULL,'This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(35992,'NCBI Gene PubMed Count',NULL,11657,NULL,NULL,NULL,19,NULL,NULL,NULL),(35993,'NCBI Gene Summary',NULL,11658,NULL,'This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35994,'NCBI Gene PubMed Count',NULL,11658,NULL,NULL,NULL,12,NULL,NULL,NULL),(35995,'NCBI Gene Summary',NULL,11659,NULL,'This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(35996,'NCBI Gene PubMed Count',NULL,11659,NULL,NULL,NULL,14,NULL,NULL,NULL),(35997,'NCBI Gene PubMed Count',NULL,11660,NULL,NULL,NULL,15,NULL,NULL,NULL),(35998,'NCBI Gene PubMed Count',NULL,11661,NULL,NULL,NULL,9,NULL,NULL,NULL),(35999,'NCBI Gene Summary',NULL,11662,NULL,'This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(36000,'NCBI Gene PubMed Count',NULL,11662,NULL,NULL,NULL,78,NULL,NULL,NULL),(36001,'NCBI Gene Summary',NULL,11663,NULL,'This gene encodes a member of the membrane-associated RING-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein ligase that may be involved in regulation of the endosomal transport pathway. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(36002,'NCBI Gene PubMed Count',NULL,11663,NULL,NULL,NULL,8,NULL,NULL,NULL),(36003,'NCBI Gene PubMed Count',NULL,11664,NULL,NULL,NULL,9,NULL,NULL,NULL),(36004,'NCBI Gene PubMed Count',NULL,11665,NULL,NULL,NULL,2,NULL,NULL,NULL),(36005,'NCBI Gene PubMed Count',NULL,11666,NULL,NULL,NULL,7,NULL,NULL,NULL),(36006,'NCBI Gene PubMed Count',NULL,11667,NULL,NULL,NULL,16,NULL,NULL,NULL),(36007,'NCBI Gene Summary',NULL,11668,NULL,'This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36008,'NCBI Gene PubMed Count',NULL,11668,NULL,NULL,NULL,34,NULL,NULL,NULL),(36009,'NCBI Gene PubMed Count',NULL,11669,NULL,NULL,NULL,13,NULL,NULL,NULL),(36010,'NCBI Gene Summary',NULL,11670,NULL,'This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(36011,'NCBI Gene PubMed Count',NULL,11670,NULL,NULL,NULL,30,NULL,NULL,NULL),(36012,'NCBI Gene Summary',NULL,11671,NULL,'MED18 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(36013,'NCBI Gene PubMed Count',NULL,11671,NULL,NULL,NULL,10,NULL,NULL,NULL),(36014,'NCBI Gene Summary',NULL,11672,NULL,'The protein encoded by this gene is a subunit of the Mediator complex, which binds to gene-specific regulatory factors and provides support for the basal RNA polymerase II transcription machinery. This gene has been implicated in the growth of several types of cancer, and inhibition of its expression inhibits the growth and spread of these cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(36015,'NCBI Gene PubMed Count',NULL,11672,NULL,NULL,NULL,34,NULL,NULL,NULL),(36016,'NCBI Gene Summary',NULL,11673,NULL,'This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(36017,'NCBI Gene PubMed Count',NULL,11673,NULL,NULL,NULL,20,NULL,NULL,NULL),(36018,'NCBI Gene Summary',NULL,11674,NULL,'This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(36019,'NCBI Gene PubMed Count',NULL,11674,NULL,NULL,NULL,36,NULL,NULL,NULL),(36020,'NCBI Gene Summary',NULL,11675,NULL,'This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(36021,'NCBI Gene PubMed Count',NULL,11675,NULL,NULL,NULL,24,NULL,NULL,NULL),(36022,'NCBI Gene Summary',NULL,11676,NULL,'This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(36023,'NCBI Gene PubMed Count',NULL,11676,NULL,NULL,NULL,72,NULL,NULL,NULL),(36024,'NCBI Gene Summary',NULL,11677,NULL,'This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36025,'NCBI Gene PubMed Count',NULL,11677,NULL,NULL,NULL,6,NULL,NULL,NULL),(36026,'NCBI Gene Summary',NULL,11678,NULL,'This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(36027,'NCBI Gene PubMed Count',NULL,11678,NULL,NULL,NULL,84,NULL,NULL,NULL),(36028,'NCBI Gene Summary',NULL,11679,NULL,'The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5\' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36029,'NCBI Gene PubMed Count',NULL,11679,NULL,NULL,NULL,16,NULL,NULL,NULL),(36030,'NCBI Gene Summary',NULL,11680,NULL,'This gene encodes a serine hydrolase of the AB hydrolase superfamily that catalyzes the conversion of monoacylglycerides to free fatty acids and glycerol. The encoded protein plays a critical role in several physiological processes including pain and nociperception through hydrolysis of the endocannabinoid 2-arachidonoylglycerol. Expression of this gene may play a role in cancer tumorigenesis and metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(36031,'NCBI Gene PubMed Count',NULL,11680,NULL,NULL,NULL,56,NULL,NULL,NULL),(36032,'NCBI Gene Summary',NULL,11681,NULL,'The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(36033,'NCBI Gene PubMed Count',NULL,11681,NULL,NULL,NULL,18,NULL,NULL,NULL),(36034,'NCBI Gene Summary',NULL,11682,NULL,'Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36035,'NCBI Gene PubMed Count',NULL,11682,NULL,NULL,NULL,43,NULL,NULL,NULL),(36036,'NCBI Gene Summary',NULL,11683,NULL,'This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and 16.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(36037,'NCBI Gene PubMed Count',NULL,11683,NULL,NULL,NULL,18,NULL,NULL,NULL),(36038,'NCBI Gene PubMed Count',NULL,11684,NULL,NULL,NULL,49,NULL,NULL,NULL),(36039,'NCBI Gene Summary',NULL,11685,NULL,'This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 and may function as an inhibitor of cell migration and invasion. This protein also interacts with the cell division protein 20 and may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(36040,'NCBI Gene PubMed Count',NULL,11685,NULL,NULL,NULL,15,NULL,NULL,NULL),(36041,'NCBI Gene Summary',NULL,11686,NULL,'This gene encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It plays a role in the regulation of macrophage function in host defense through the suppression of anti-inflammatory effects of glucocorticoids. This lymphokine and the JAB1 protein form a complex in the cytosol near the peripheral plasma membrane, which may indicate an additional role in integrin signaling pathways. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36042,'NCBI Gene PubMed Count',NULL,11686,NULL,NULL,NULL,626,NULL,NULL,NULL),(36043,'NCBI Gene PubMed Count',NULL,11687,NULL,NULL,NULL,4,NULL,NULL,NULL),(36044,'NCBI Gene PubMed Count',NULL,11688,NULL,NULL,NULL,25,NULL,NULL,NULL),(36045,'NCBI Gene Summary',NULL,11689,NULL,'This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(36046,'NCBI Gene PubMed Count',NULL,11689,NULL,NULL,NULL,20,NULL,NULL,NULL),(36047,'NCBI Gene Summary',NULL,11690,NULL,'This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein\'s E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(36048,'NCBI Gene PubMed Count',NULL,11690,NULL,NULL,NULL,22,NULL,NULL,NULL),(36049,'NCBI Gene Summary',NULL,11691,NULL,'This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease degrades soluble and insoluble elastin. This gene may play a role in aneurysm formation and mutations in this gene are associated with lung function and chronic obstructive pulmonary disease (COPD). This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(36050,'NCBI Gene PubMed Count',NULL,11691,NULL,NULL,NULL,179,NULL,NULL,NULL),(36051,'NCBI Gene Summary',NULL,11692,NULL,'This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(36052,'NCBI Gene PubMed Count',NULL,11692,NULL,NULL,NULL,38,NULL,NULL,NULL),(36053,'NCBI Gene Summary',NULL,11693,NULL,'This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36054,'NCBI Gene PubMed Count',NULL,11693,NULL,NULL,NULL,80,NULL,NULL,NULL),(36055,'NCBI Gene Summary',NULL,11694,NULL,'This gene is one member of a family of nuclear RNA export factor genes. The encoded protein can bind RNA, and is implicated in mRNA nuclear export. However, this protein has lost several C-terminal protein domains found in other family members that are required for export activity, and may be an evolving pseudogene. Alternatively spliced transcript variants have been described, but most are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(36056,'NCBI Gene PubMed Count',NULL,11694,NULL,NULL,NULL,9,NULL,NULL,NULL),(36057,'NCBI Gene PubMed Count',NULL,11695,NULL,NULL,NULL,4,NULL,NULL,NULL),(36058,'NCBI Gene PubMed Count',NULL,11696,NULL,NULL,NULL,2,NULL,NULL,NULL),(36059,'NCBI Gene Summary',NULL,11697,NULL,'The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36060,'NCBI Gene PubMed Count',NULL,11697,NULL,NULL,NULL,5,NULL,NULL,NULL),(36061,'NCBI Gene Summary',NULL,11698,NULL,'The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36062,'NCBI Gene PubMed Count',NULL,11698,NULL,NULL,NULL,24,NULL,NULL,NULL),(36063,'NCBI Gene Summary',NULL,11699,NULL,'The protein encoded by this gene contains a nuclear transport factor 2 (NTF2) domain, which plays an important role in the trafficking of macromolecules, ions, and small molecules between the cytoplasm and nucleus. This protein may also have a role in mRNA nuclear export. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(36064,'NCBI Gene PubMed Count',NULL,11699,NULL,NULL,NULL,11,NULL,NULL,NULL),(36065,'NCBI Gene Summary',NULL,11700,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36066,'NCBI Gene PubMed Count',NULL,11700,NULL,NULL,NULL,6,NULL,NULL,NULL),(36067,'NCBI Gene Summary',NULL,11701,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36068,'NCBI Gene PubMed Count',NULL,11701,NULL,NULL,NULL,3,NULL,NULL,NULL),(36069,'NCBI Gene Summary',NULL,11702,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36070,'NCBI Gene PubMed Count',NULL,11702,NULL,NULL,NULL,4,NULL,NULL,NULL),(36071,'NCBI Gene Summary',NULL,11703,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36072,'NCBI Gene PubMed Count',NULL,11703,NULL,NULL,NULL,4,NULL,NULL,NULL),(36073,'NCBI Gene Summary',NULL,11704,NULL,'Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36074,'NCBI Gene PubMed Count',NULL,11704,NULL,NULL,NULL,24,NULL,NULL,NULL),(36075,'NCBI Gene Summary',NULL,11705,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(36076,'NCBI Gene PubMed Count',NULL,11705,NULL,NULL,NULL,5,NULL,NULL,NULL),(36077,'NCBI Gene Summary',NULL,11706,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36078,'NCBI Gene PubMed Count',NULL,11706,NULL,NULL,NULL,5,NULL,NULL,NULL),(36079,'NCBI Gene Summary',NULL,11707,NULL,'This gene encodes an enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) enzymes. XDH catalyzes the conversion of hypoxanthine to uric acid via xanthine, as well as the conversion of allopurinol to oxypurinol, and pyrazinamide to 5-hydroxy pyrazinamide. Mutations in this gene cause the metabolic disorder classical xanthinuria type II which is characterized by the loss of XDH/XO and AO enzyme activity, decreased levels of uric acid in the urine, increased levels of xanthine and hypoxanthine in the serum and urine, formation of xanthine stones in the urinary tract, and myositis due to tissue deposition of xanthine. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(36080,'NCBI Gene PubMed Count',NULL,11707,NULL,NULL,NULL,12,NULL,NULL,NULL),(36081,'NCBI Gene Summary',NULL,11708,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36082,'NCBI Gene PubMed Count',NULL,11708,NULL,NULL,NULL,6,NULL,NULL,NULL),(36083,'NCBI Gene Summary',NULL,11709,NULL,'This gene encodes a protein that that is targeted to the mitochondrion and modifies transfer RNAs (tRNAs) by adding a dimethylallyl group onto the adenine at position 37. This modification is important for maintaining the correct reading frame during protein translation. This gene is considered a tumor suppressor and its expression can decrease cell growth. Alternative splicing results in multiple transcripts variants, most of which are likely non-functional. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(36084,'NCBI Gene PubMed Count',NULL,11709,NULL,NULL,NULL,21,NULL,NULL,NULL),(36085,'NCBI Gene Summary',NULL,11710,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36086,'NCBI Gene PubMed Count',NULL,11710,NULL,NULL,NULL,7,NULL,NULL,NULL),(36087,'NCBI Gene Summary',NULL,11711,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36088,'NCBI Gene PubMed Count',NULL,11711,NULL,NULL,NULL,5,NULL,NULL,NULL),(36089,'NCBI Gene Summary',NULL,11712,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36090,'NCBI Gene PubMed Count',NULL,11712,NULL,NULL,NULL,2,NULL,NULL,NULL),(36091,'NCBI Gene Summary',NULL,11713,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36092,'NCBI Gene PubMed Count',NULL,11713,NULL,NULL,NULL,11,NULL,NULL,NULL),(36093,'NCBI Gene Summary',NULL,11714,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36094,'NCBI Gene PubMed Count',NULL,11714,NULL,NULL,NULL,5,NULL,NULL,NULL),(36095,'NCBI Gene Summary',NULL,11715,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36096,'NCBI Gene PubMed Count',NULL,11715,NULL,NULL,NULL,3,NULL,NULL,NULL),(36097,'NCBI Gene Summary',NULL,11716,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36098,'NCBI Gene PubMed Count',NULL,11716,NULL,NULL,NULL,2,NULL,NULL,NULL),(36099,'NCBI Gene Summary',NULL,11717,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36100,'NCBI Gene PubMed Count',NULL,11717,NULL,NULL,NULL,3,NULL,NULL,NULL),(36101,'NCBI Gene Summary',NULL,11718,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36102,'NCBI Gene PubMed Count',NULL,11718,NULL,NULL,NULL,2,NULL,NULL,NULL),(36103,'NCBI Gene PubMed Count',NULL,11719,NULL,NULL,NULL,8,NULL,NULL,NULL),(36104,'NCBI Gene PubMed Count',NULL,11720,NULL,NULL,NULL,4,NULL,NULL,NULL),(36105,'NCBI Gene Summary',NULL,11721,NULL,'MOS is a serine/threonine kinase that activates the MAP kinase cascade through direct phosphorylation of the MAP kinase activator MEK (MAP2K1; MIM 176872) (Prasad et al., 2008 [PubMed 18246541]).[supplied by OMIM, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(36106,'NCBI Gene PubMed Count',NULL,11721,NULL,NULL,NULL,29,NULL,NULL,NULL),(36107,'NCBI Gene PubMed Count',NULL,11722,NULL,NULL,NULL,1,NULL,NULL,NULL),(36108,'NCBI Gene Summary',NULL,11723,NULL,'SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(36109,'NCBI Gene PubMed Count',NULL,11723,NULL,NULL,NULL,19,NULL,NULL,NULL),(36110,'NCBI Gene PubMed Count',NULL,11724,NULL,NULL,NULL,5,NULL,NULL,NULL),(36111,'NCBI Gene PubMed Count',NULL,11725,NULL,NULL,NULL,7,NULL,NULL,NULL),(36112,'NCBI Gene Summary',NULL,11726,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36113,'NCBI Gene PubMed Count',NULL,11726,NULL,NULL,NULL,4,NULL,NULL,NULL),(36114,'NCBI Gene PubMed Count',NULL,11727,NULL,NULL,NULL,15,NULL,NULL,NULL),(36115,'NCBI Gene Summary',NULL,11728,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36116,'NCBI Gene PubMed Count',NULL,11728,NULL,NULL,NULL,2,NULL,NULL,NULL),(36117,'NCBI Gene Summary',NULL,11729,NULL,'The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36118,'NCBI Gene PubMed Count',NULL,11729,NULL,NULL,NULL,163,NULL,NULL,NULL),(36119,'NCBI Gene PubMed Count',NULL,11730,NULL,NULL,NULL,10,NULL,NULL,NULL),(36120,'NCBI Gene Summary',NULL,11731,NULL,'The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36121,'NCBI Gene PubMed Count',NULL,11731,NULL,NULL,NULL,73,NULL,NULL,NULL),(36122,'NCBI Gene Summary',NULL,11732,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36123,'NCBI Gene PubMed Count',NULL,11732,NULL,NULL,NULL,3,NULL,NULL,NULL),(36124,'NCBI Gene PubMed Count',NULL,11733,NULL,NULL,NULL,12,NULL,NULL,NULL),(36125,'NCBI Gene Summary',NULL,11734,NULL,'The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(36126,'NCBI Gene PubMed Count',NULL,11734,NULL,NULL,NULL,20,NULL,NULL,NULL),(36127,'NCBI Gene PubMed Count',NULL,11735,NULL,NULL,NULL,4,NULL,NULL,NULL),(36128,'NCBI Gene Summary',NULL,11736,NULL,'The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(36129,'NCBI Gene PubMed Count',NULL,11736,NULL,NULL,NULL,20,NULL,NULL,NULL),(36130,'NCBI Gene Summary',NULL,11737,NULL,'The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36131,'NCBI Gene PubMed Count',NULL,11737,NULL,NULL,NULL,14,NULL,NULL,NULL),(36132,'NCBI Gene Summary',NULL,11738,NULL,'The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36133,'NCBI Gene PubMed Count',NULL,11738,NULL,NULL,NULL,116,NULL,NULL,NULL),(36134,'NCBI Gene Summary',NULL,11739,NULL,'This gene encodes a member of the microtubule-associated serine/threonine protein kinases. The proteins in this family contain a domain that gives the kinase the ability to determine its own scaffold to control the effects of their kinase activities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(36135,'NCBI Gene PubMed Count',NULL,11739,NULL,NULL,NULL,10,NULL,NULL,NULL),(36136,'NCBI Gene Summary',NULL,11740,NULL,'This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(36137,'NCBI Gene PubMed Count',NULL,11740,NULL,NULL,NULL,28,NULL,NULL,NULL),(36138,'NCBI Gene Summary',NULL,11741,NULL,'The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(36139,'NCBI Gene PubMed Count',NULL,11741,NULL,NULL,NULL,123,NULL,NULL,NULL),(36140,'NCBI Gene Summary',NULL,11742,NULL,'ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(36141,'NCBI Gene PubMed Count',NULL,11742,NULL,NULL,NULL,29,NULL,NULL,NULL),(36142,'NCBI Gene PubMed Count',NULL,11743,NULL,NULL,NULL,1,NULL,NULL,NULL),(36143,'NCBI Gene Summary',NULL,11744,NULL,'This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36144,'NCBI Gene PubMed Count',NULL,11744,NULL,NULL,NULL,31,NULL,NULL,NULL),(36145,'NCBI Gene Summary',NULL,11745,NULL,'The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36146,'NCBI Gene PubMed Count',NULL,11745,NULL,NULL,NULL,13,NULL,NULL,NULL),(36147,'NCBI Gene PubMed Count',NULL,11746,NULL,NULL,NULL,42,NULL,NULL,NULL),(36148,'NCBI Gene PubMed Count',NULL,11747,NULL,NULL,NULL,6,NULL,NULL,NULL),(36149,'NCBI Gene Summary',NULL,11748,NULL,'Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(36150,'NCBI Gene PubMed Count',NULL,11748,NULL,NULL,NULL,16,NULL,NULL,NULL),(36151,'NCBI Gene Summary',NULL,11749,NULL,'The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(36152,'NCBI Gene PubMed Count',NULL,11749,NULL,NULL,NULL,74,NULL,NULL,NULL),(36153,'NCBI Gene Summary',NULL,11750,NULL,'This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36154,'NCBI Gene PubMed Count',NULL,11750,NULL,NULL,NULL,26,NULL,NULL,NULL),(36155,'NCBI Gene Summary',NULL,11751,NULL,'This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36156,'NCBI Gene PubMed Count',NULL,11751,NULL,NULL,NULL,32,NULL,NULL,NULL),(36157,'NCBI Gene Summary',NULL,11752,NULL,'NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(36158,'NCBI Gene PubMed Count',NULL,11752,NULL,NULL,NULL,38,NULL,NULL,NULL),(36159,'NCBI Gene PubMed Count',NULL,11753,NULL,NULL,NULL,20,NULL,NULL,NULL),(36160,'NCBI Gene Summary',NULL,11754,NULL,'This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(36161,'NCBI Gene PubMed Count',NULL,11754,NULL,NULL,NULL,217,NULL,NULL,NULL),(36162,'NCBI Gene PubMed Count',NULL,11755,NULL,NULL,NULL,13,NULL,NULL,NULL),(36163,'NCBI Gene Summary',NULL,11756,NULL,'The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(36164,'NCBI Gene PubMed Count',NULL,11756,NULL,NULL,NULL,21,NULL,NULL,NULL),(36165,'NCBI Gene Summary',NULL,11757,NULL,'This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36166,'NCBI Gene PubMed Count',NULL,11757,NULL,NULL,NULL,26,NULL,NULL,NULL),(36167,'NCBI Gene Summary',NULL,11758,NULL,'The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(36168,'NCBI Gene PubMed Count',NULL,11758,NULL,NULL,NULL,7,NULL,NULL,NULL),(36169,'NCBI Gene PubMed Count',NULL,11759,NULL,NULL,NULL,9,NULL,NULL,NULL),(36170,'NCBI Gene PubMed Count',NULL,11760,NULL,NULL,NULL,8,NULL,NULL,NULL),(36171,'NCBI Gene PubMed Count',NULL,11761,NULL,NULL,NULL,6,NULL,NULL,NULL),(36172,'NCBI Gene Summary',NULL,11762,NULL,'Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein catalyzes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(36173,'NCBI Gene PubMed Count',NULL,11762,NULL,NULL,NULL,629,NULL,NULL,NULL),(36174,'NCBI Gene PubMed Count',NULL,11763,NULL,NULL,NULL,8,NULL,NULL,NULL),(36175,'NCBI Gene Summary',NULL,11764,NULL,'The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(36176,'NCBI Gene PubMed Count',NULL,11764,NULL,NULL,NULL,16,NULL,NULL,NULL),(36177,'NCBI Gene Summary',NULL,11765,NULL,'The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(36178,'NCBI Gene PubMed Count',NULL,11765,NULL,NULL,NULL,27,NULL,NULL,NULL),(36179,'NCBI Gene PubMed Count',NULL,11766,NULL,NULL,NULL,11,NULL,NULL,NULL),(36180,'NCBI Gene Summary',NULL,11767,NULL,'The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(36181,'NCBI Gene PubMed Count',NULL,11767,NULL,NULL,NULL,22,NULL,NULL,NULL),(36182,'NCBI Gene PubMed Count',NULL,11768,NULL,NULL,NULL,12,NULL,NULL,NULL),(36183,'NCBI Gene Summary',NULL,11769,NULL,'This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36184,'NCBI Gene PubMed Count',NULL,11769,NULL,NULL,NULL,45,NULL,NULL,NULL),(36185,'NCBI Gene PubMed Count',NULL,11770,NULL,NULL,NULL,15,NULL,NULL,NULL),(36186,'NCBI Gene PubMed Count',NULL,11771,NULL,NULL,NULL,1,NULL,NULL,NULL),(36187,'NCBI Gene Summary',NULL,11772,NULL,'This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to be inactive because it lacks several residues required for activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced necroptosis, a programmed cell death process, via interaction with receptor-interacting protein 3 (RIP3), which is a key signaling molecule in necroptosis pathway. Inhibitor studies and knockdown of this gene inhibited TNF-induced necrosis. High levels of this protein and RIP3 are associated with inflammatory bowel disease in children. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(36188,'NCBI Gene PubMed Count',NULL,11772,NULL,NULL,NULL,53,NULL,NULL,NULL),(36189,'NCBI Gene Summary',NULL,11773,NULL,'This gene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the regulation of genes in response to cellular glucose levels. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(36190,'NCBI Gene PubMed Count',NULL,11773,NULL,NULL,NULL,26,NULL,NULL,NULL),(36191,'NCBI Gene Summary',NULL,11774,NULL,'This gene encodes an oncoprotein which is thought to play a role in the phenotypic determination of hemopoetic cells. Translocations between this gene and nucleophosmin have been associated with myelodysplastic syndrome and acute myeloid leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(36192,'NCBI Gene PubMed Count',NULL,11774,NULL,NULL,NULL,29,NULL,NULL,NULL),(36193,'NCBI Gene Summary',NULL,11775,NULL,'This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(36194,'NCBI Gene PubMed Count',NULL,11775,NULL,NULL,NULL,12,NULL,NULL,NULL),(36195,'NCBI Gene Summary',NULL,11776,NULL,'The protein encoded by this gene is thought to be a cytosolic protein and predicted to contain a NACHT domain and multiple WD40 repeats. Increased expression of this gene was observed in some prostate cancer cell lines. Knocking down expression of this gene results in decreased androgen receptor protein levels, indicating that this gene may be important in modulating androgen receptor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(36196,'NCBI Gene PubMed Count',NULL,11776,NULL,NULL,NULL,6,NULL,NULL,NULL),(36197,'NCBI Gene PubMed Count',NULL,11777,NULL,NULL,NULL,7,NULL,NULL,NULL),(36198,'NCBI Gene Summary',NULL,11778,NULL,'This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(36199,'NCBI Gene PubMed Count',NULL,11778,NULL,NULL,NULL,13,NULL,NULL,NULL),(36200,'NCBI Gene Summary',NULL,11779,NULL,'The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36201,'NCBI Gene PubMed Count',NULL,11779,NULL,NULL,NULL,29,NULL,NULL,NULL),(36202,'NCBI Gene Summary',NULL,11780,NULL,'The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36203,'NCBI Gene PubMed Count',NULL,11780,NULL,NULL,NULL,19,NULL,NULL,NULL),(36204,'NCBI Gene PubMed Count',NULL,11781,NULL,NULL,NULL,9,NULL,NULL,NULL),(36205,'NCBI Gene PubMed Count',NULL,11782,NULL,NULL,NULL,8,NULL,NULL,NULL),(36206,'NCBI Gene PubMed Count',NULL,11783,NULL,NULL,NULL,6,NULL,NULL,NULL),(36207,'NCBI Gene Summary',NULL,11784,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36208,'NCBI Gene PubMed Count',NULL,11784,NULL,NULL,NULL,3,NULL,NULL,NULL),(36209,'NCBI Gene Summary',NULL,11785,NULL,'Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36210,'NCBI Gene PubMed Count',NULL,11785,NULL,NULL,NULL,24,NULL,NULL,NULL),(36211,'NCBI Gene PubMed Count',NULL,11786,NULL,NULL,NULL,22,NULL,NULL,NULL),(36212,'NCBI Gene Summary',NULL,11787,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36213,'NCBI Gene PubMed Count',NULL,11787,NULL,NULL,NULL,2,NULL,NULL,NULL),(36214,'NCBI Gene Summary',NULL,11788,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(36215,'NCBI Gene PubMed Count',NULL,11788,NULL,NULL,NULL,12,NULL,NULL,NULL),(36216,'NCBI Gene Summary',NULL,11789,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36217,'NCBI Gene PubMed Count',NULL,11789,NULL,NULL,NULL,11,NULL,NULL,NULL),(36218,'NCBI Gene Summary',NULL,11790,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36219,'NCBI Gene PubMed Count',NULL,11790,NULL,NULL,NULL,5,NULL,NULL,NULL),(36220,'NCBI Gene Summary',NULL,11791,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36221,'NCBI Gene PubMed Count',NULL,11791,NULL,NULL,NULL,3,NULL,NULL,NULL),(36222,'NCBI Gene Summary',NULL,11792,NULL,'This gene encodes an intracellular protein that interacts with members of the MORF4/MRG (mortality factor on chromosome 4/MORF4 related gene) family and the tumor suppressor Rb (retinoblastoma protein.) The protein may play a role in senescence, cell growth and immortalization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(36223,'NCBI Gene PubMed Count',NULL,11792,NULL,NULL,NULL,17,NULL,NULL,NULL),(36224,'NCBI Gene Summary',NULL,11793,NULL,'This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(36225,'NCBI Gene PubMed Count',NULL,11793,NULL,NULL,NULL,16,NULL,NULL,NULL),(36226,'NCBI Gene Summary',NULL,11794,NULL,'Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA (Cheng et al., 2003 [PubMed 12618427]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(36227,'NCBI Gene PubMed Count',NULL,11794,NULL,NULL,NULL,8,NULL,NULL,NULL),(36228,'NCBI Gene Summary',NULL,11795,NULL,'The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36229,'NCBI Gene PubMed Count',NULL,11795,NULL,NULL,NULL,72,NULL,NULL,NULL),(36230,'NCBI Gene Summary',NULL,11796,NULL,'This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36231,'NCBI Gene PubMed Count',NULL,11796,NULL,NULL,NULL,28,NULL,NULL,NULL),(36232,'NCBI Gene Summary',NULL,11797,NULL,'This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(36233,'NCBI Gene PubMed Count',NULL,11797,NULL,NULL,NULL,24,NULL,NULL,NULL),(36234,'NCBI Gene Summary',NULL,11798,NULL,'This gene encodes a multifunctional protein that localizes to both the cytoplasm and nucleus. In the cytoplasm, the encoded protein is an auxiliary component of the macromolecular aminoacyl-tRNA synthase complex. However, its mouse homolog has been shown to translocate to the nucleus in response to DNA damage, and it plays a positive role in ATM/ATR-mediated p53 activation. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream MUTED (muted homolog) gene. An EEF1E1-related pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(36235,'NCBI Gene PubMed Count',NULL,11798,NULL,NULL,NULL,34,NULL,NULL,NULL),(36236,'NCBI Gene PubMed Count',NULL,11799,NULL,NULL,NULL,4,NULL,NULL,NULL),(36237,'NCBI Gene PubMed Count',NULL,11800,NULL,NULL,NULL,10,NULL,NULL,NULL),(36238,'NCBI Gene Summary',NULL,11801,NULL,'This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(36239,'NCBI Gene PubMed Count',NULL,11801,NULL,NULL,NULL,17,NULL,NULL,NULL),(36240,'NCBI Gene Summary',NULL,11802,NULL,'This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(36241,'NCBI Gene PubMed Count',NULL,11802,NULL,NULL,NULL,582,NULL,NULL,NULL),(36242,'NCBI Gene Summary',NULL,11803,NULL,'This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(36243,'NCBI Gene PubMed Count',NULL,11803,NULL,NULL,NULL,78,NULL,NULL,NULL),(36244,'NCBI Gene Summary',NULL,11804,NULL,'This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(36245,'NCBI Gene PubMed Count',NULL,11804,NULL,NULL,NULL,22,NULL,NULL,NULL),(36246,'NCBI Gene Summary',NULL,11805,NULL,'This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(36247,'NCBI Gene PubMed Count',NULL,11805,NULL,NULL,NULL,122,NULL,NULL,NULL),(36248,'NCBI Gene PubMed Count',NULL,11806,NULL,NULL,NULL,9,NULL,NULL,NULL),(36249,'NCBI Gene Summary',NULL,11807,NULL,'The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes a protein which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(36250,'NCBI Gene PubMed Count',NULL,11807,NULL,NULL,NULL,18,NULL,NULL,NULL),(36251,'NCBI Gene PubMed Count',NULL,11808,NULL,NULL,NULL,8,NULL,NULL,NULL),(36252,'NCBI Gene Summary',NULL,11809,NULL,'The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(36253,'NCBI Gene PubMed Count',NULL,11809,NULL,NULL,NULL,75,NULL,NULL,NULL),(36254,'NCBI Gene Summary',NULL,11810,NULL,'CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(36255,'NCBI Gene PubMed Count',NULL,11810,NULL,NULL,NULL,24,NULL,NULL,NULL),(36256,'NCBI Gene PubMed Count',NULL,11811,NULL,NULL,NULL,5,NULL,NULL,NULL),(36257,'NCBI Gene PubMed Count',NULL,11812,NULL,NULL,NULL,1,NULL,NULL,NULL),(36258,'NCBI Gene PubMed Count',NULL,11813,NULL,NULL,NULL,1,NULL,NULL,NULL),(36259,'NCBI Gene Summary',NULL,11814,NULL,'The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36260,'NCBI Gene PubMed Count',NULL,11814,NULL,NULL,NULL,27,NULL,NULL,NULL),(36261,'NCBI Gene Summary',NULL,11815,NULL,'DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(36262,'NCBI Gene PubMed Count',NULL,11815,NULL,NULL,NULL,53,NULL,NULL,NULL),(36263,'NCBI Gene Summary',NULL,11816,NULL,'The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(36264,'NCBI Gene PubMed Count',NULL,11816,NULL,NULL,NULL,63,NULL,NULL,NULL),(36265,'NCBI Gene Summary',NULL,11817,NULL,'This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(36266,'NCBI Gene PubMed Count',NULL,11817,NULL,NULL,NULL,36,NULL,NULL,NULL),(36267,'NCBI Gene PubMed Count',NULL,11818,NULL,NULL,NULL,14,NULL,NULL,NULL),(36268,'NCBI Gene Summary',NULL,11819,NULL,'The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(36269,'NCBI Gene PubMed Count',NULL,11819,NULL,NULL,NULL,20,NULL,NULL,NULL),(36270,'NCBI Gene PubMed Count',NULL,11820,NULL,NULL,NULL,16,NULL,NULL,NULL),(36271,'NCBI Gene Summary',NULL,11821,NULL,'This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme B, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36272,'NCBI Gene PubMed Count',NULL,11821,NULL,NULL,NULL,15,NULL,NULL,NULL),(36273,'NCBI Gene Summary',NULL,11822,NULL,'There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36274,'NCBI Gene PubMed Count',NULL,11822,NULL,NULL,NULL,35,NULL,NULL,NULL),(36275,'NCBI Gene PubMed Count',NULL,11823,NULL,NULL,NULL,6,NULL,NULL,NULL),(36276,'NCBI Gene PubMed Count',NULL,11824,NULL,NULL,NULL,29,NULL,NULL,NULL),(36277,'NCBI Gene Summary',NULL,11825,NULL,'This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(36278,'NCBI Gene PubMed Count',NULL,11825,NULL,NULL,NULL,161,NULL,NULL,NULL),(36279,'NCBI Gene PubMed Count',NULL,11826,NULL,NULL,NULL,5,NULL,NULL,NULL),(36280,'NCBI Gene Summary',NULL,11827,NULL,'This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1). [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(36281,'NCBI Gene PubMed Count',NULL,11827,NULL,NULL,NULL,36,NULL,NULL,NULL),(36282,'NCBI Gene Summary',NULL,11828,NULL,'This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(36283,'NCBI Gene PubMed Count',NULL,11828,NULL,NULL,NULL,41,NULL,NULL,NULL),(36284,'NCBI Gene Summary',NULL,11829,NULL,' The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36285,'NCBI Gene PubMed Count',NULL,11829,NULL,NULL,NULL,126,NULL,NULL,NULL),(36286,'NCBI Gene Summary',NULL,11830,NULL,'Autophagy is a highly regulated bulk degradation process that plays an important role in cellular maintenance and development. MAP1LC3C is an ortholog of the yeast autophagosome protein Atg8 (He et al., 2003 [PubMed 12740394]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(36287,'NCBI Gene PubMed Count',NULL,11830,NULL,NULL,NULL,23,NULL,NULL,NULL),(36288,'NCBI Gene Summary',NULL,11831,NULL,'The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(36289,'NCBI Gene PubMed Count',NULL,11831,NULL,NULL,NULL,25,NULL,NULL,NULL),(36290,'NCBI Gene Summary',NULL,11832,NULL,'The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(36291,'NCBI Gene PubMed Count',NULL,11832,NULL,NULL,NULL,30,NULL,NULL,NULL),(36292,'NCBI Gene Summary',NULL,11833,NULL,'The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(36293,'NCBI Gene PubMed Count',NULL,11833,NULL,NULL,NULL,17,NULL,NULL,NULL),(36294,'NCBI Gene Summary',NULL,11834,NULL,'The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36295,'NCBI Gene PubMed Count',NULL,11834,NULL,NULL,NULL,24,NULL,NULL,NULL),(36296,'NCBI Gene Summary',NULL,11835,NULL,'This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down fibronectin, laminin, elastin, proteoglycan core protein, gelatins, and several types of collagen. The gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(36297,'NCBI Gene PubMed Count',NULL,11835,NULL,NULL,NULL,101,NULL,NULL,NULL),(36298,'NCBI Gene Summary',NULL,11836,NULL,'This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(36299,'NCBI Gene PubMed Count',NULL,11836,NULL,NULL,NULL,23,NULL,NULL,NULL),(36300,'NCBI Gene Summary',NULL,11837,NULL,'This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36301,'NCBI Gene PubMed Count',NULL,11837,NULL,NULL,NULL,124,NULL,NULL,NULL),(36302,'NCBI Gene Summary',NULL,11838,NULL,'MARCH4 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH4 reduces surface accumulation of several membrane glycoproteins by directing them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(36303,'NCBI Gene PubMed Count',NULL,11838,NULL,NULL,NULL,8,NULL,NULL,NULL),(36304,'NCBI Gene Summary',NULL,11839,NULL,'The protein encoded by this gene belongs to the methionine adenosyltransferase (MAT) family. MAT catalyzes the biosynthesis of S-adenosylmethionine from methionine and ATP. This protein is the regulatory beta subunit of MAT. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(36305,'NCBI Gene PubMed Count',NULL,11839,NULL,NULL,NULL,43,NULL,NULL,NULL),(36306,'NCBI Gene Summary',NULL,11840,NULL,'This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(36307,'NCBI Gene PubMed Count',NULL,11840,NULL,NULL,NULL,72,NULL,NULL,NULL),(36308,'NCBI Gene Summary',NULL,11841,NULL,'This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(36309,'NCBI Gene PubMed Count',NULL,11841,NULL,NULL,NULL,22,NULL,NULL,NULL),(36310,'NCBI Gene Summary',NULL,11842,NULL,'This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(36311,'NCBI Gene PubMed Count',NULL,11842,NULL,NULL,NULL,75,NULL,NULL,NULL),(36312,'NCBI Gene PubMed Count',NULL,11843,NULL,NULL,NULL,7,NULL,NULL,NULL),(36313,'NCBI Gene Summary',NULL,11844,NULL,'This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(36314,'NCBI Gene PubMed Count',NULL,11844,NULL,NULL,NULL,27,NULL,NULL,NULL),(36315,'NCBI Gene Summary',NULL,11845,NULL,'NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(36316,'NCBI Gene PubMed Count',NULL,11845,NULL,NULL,NULL,30,NULL,NULL,NULL),(36317,'NCBI Gene PubMed Count',NULL,11846,NULL,NULL,NULL,10,NULL,NULL,NULL),(36318,'NCBI Gene PubMed Count',NULL,11847,NULL,NULL,NULL,13,NULL,NULL,NULL),(36319,'NCBI Gene Summary',NULL,11848,NULL,'This gene encodes the highly polymorphic major histocompatability complex class I chain-related protein A. The protein product is expressed on the cell surface, although unlike canonical class I molecules it does not seem to associate with beta-2-microglobulin. It is a ligand for the NKG2-D type II integral membrane protein receptor. The protein functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. Variations in this gene have been associated with susceptibility to psoriasis 1 and psoriatic arthritis, and the shedding of MICA-related antibodies and ligands is involved in the progression from monoclonal gammopathy of undetermined significance to multiple myeloma. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(36320,'NCBI Gene PubMed Count',NULL,11848,NULL,NULL,NULL,476,NULL,NULL,NULL),(36321,'NCBI Gene Summary',NULL,11849,NULL,'This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(36322,'NCBI Gene PubMed Count',NULL,11849,NULL,NULL,NULL,22,NULL,NULL,NULL),(36323,'NCBI Gene PubMed Count',NULL,11850,NULL,NULL,NULL,10,NULL,NULL,NULL),(36324,'NCBI Gene Summary',NULL,11851,NULL,'The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(36325,'NCBI Gene PubMed Count',NULL,11851,NULL,NULL,NULL,16,NULL,NULL,NULL),(36326,'NCBI Gene Summary',NULL,11852,NULL,'Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP\'s are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP\'s, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36327,'NCBI Gene PubMed Count',NULL,11852,NULL,NULL,NULL,75,NULL,NULL,NULL),(36328,'NCBI Gene Summary',NULL,11853,NULL,'The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36329,'NCBI Gene PubMed Count',NULL,11853,NULL,NULL,NULL,18,NULL,NULL,NULL),(36330,'NCBI Gene PubMed Count',NULL,11854,NULL,NULL,NULL,18,NULL,NULL,NULL),(36331,'NCBI Gene Summary',NULL,11855,NULL,'This gene encodes a protein expressed in the eye. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36332,'NCBI Gene PubMed Count',NULL,11855,NULL,NULL,NULL,9,NULL,NULL,NULL),(36333,'NCBI Gene Summary',NULL,11856,NULL,'The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(36334,'NCBI Gene PubMed Count',NULL,11856,NULL,NULL,NULL,19,NULL,NULL,NULL),(36335,'NCBI Gene PubMed Count',NULL,11857,NULL,NULL,NULL,3,NULL,NULL,NULL),(36336,'NCBI Gene PubMed Count',NULL,11858,NULL,NULL,NULL,16,NULL,NULL,NULL),(36337,'NCBI Gene PubMed Count',NULL,11859,NULL,NULL,NULL,3,NULL,NULL,NULL),(36338,'NCBI Gene Summary',NULL,11860,NULL,'The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(36339,'NCBI Gene PubMed Count',NULL,11860,NULL,NULL,NULL,82,NULL,NULL,NULL),(36340,'NCBI Gene Summary',NULL,11861,NULL,'The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(36341,'NCBI Gene PubMed Count',NULL,11861,NULL,NULL,NULL,17,NULL,NULL,NULL),(36342,'NCBI Gene Summary',NULL,11862,NULL,'This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(36343,'NCBI Gene PubMed Count',NULL,11862,NULL,NULL,NULL,134,NULL,NULL,NULL),(36344,'NCBI Gene Summary',NULL,11863,NULL,'This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(36345,'NCBI Gene PubMed Count',NULL,11863,NULL,NULL,NULL,141,NULL,NULL,NULL),(36346,'NCBI Gene Summary',NULL,11865,NULL,'This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36347,'NCBI Gene PubMed Count',NULL,11865,NULL,NULL,NULL,100,NULL,NULL,NULL),(36348,'NCBI Gene Summary',NULL,11866,NULL,'This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel\'s syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36349,'NCBI Gene PubMed Count',NULL,11866,NULL,NULL,NULL,41,NULL,NULL,NULL),(36350,'NCBI Gene Summary',NULL,11867,NULL,'The protein encoded by this gene is a member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers with other lipin family members, while one family member, lipin 1, can also form homo-oligomers. This protein contains conserved motifs for phosphatidate phosphatase 1 (PAP1) activity as well as a domain that interacts with a transcriptional co-activator. Lipin complexes act in the cytoplasm to catalyze the dephosphorylation of phosphatidic acid to produce diacylglycerol, which is the precursor of both triglycerides and phospholipids. Lipin complexes are also thought to regulate gene expression as transcriptional co-activators in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(36351,'NCBI Gene PubMed Count',NULL,11867,NULL,NULL,NULL,9,NULL,NULL,NULL),(36352,'NCBI Gene Summary',NULL,11868,NULL,'This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(36353,'NCBI Gene PubMed Count',NULL,11868,NULL,NULL,NULL,270,NULL,NULL,NULL),(36354,'NCBI Gene PubMed Count',NULL,11869,NULL,NULL,NULL,5,NULL,NULL,NULL),(36355,'NCBI Gene PubMed Count',NULL,11870,NULL,NULL,NULL,11,NULL,NULL,NULL),(36356,'NCBI Gene PubMed Count',NULL,11871,NULL,NULL,NULL,10,NULL,NULL,NULL),(36357,'NCBI Gene PubMed Count',NULL,11872,NULL,NULL,NULL,3,NULL,NULL,NULL),(36358,'NCBI Gene PubMed Count',NULL,11873,NULL,NULL,NULL,12,NULL,NULL,NULL),(36359,'NCBI Gene Summary',NULL,11874,NULL,'This gene encodes a centrosomal protein that maintains the structural integrity of the centrosome and plays a key role in mitotic spindle formation. The encoded protein contains an N-terminal leucine-rich repeat domain and a C-terminal coiled-coil domain. It associates with the centrosome throughout the cell cycle and accumulates on the mitotic centrosome. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(36360,'NCBI Gene PubMed Count',NULL,11874,NULL,NULL,NULL,10,NULL,NULL,NULL),(36361,'NCBI Gene Summary',NULL,11875,NULL,'This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(36362,'NCBI Gene PubMed Count',NULL,11875,NULL,NULL,NULL,18,NULL,NULL,NULL),(36363,'NCBI Gene Summary',NULL,11876,NULL,'The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(36364,'NCBI Gene PubMed Count',NULL,11876,NULL,NULL,NULL,30,NULL,NULL,NULL),(36365,'NCBI Gene Summary',NULL,11877,NULL,'Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(36366,'NCBI Gene PubMed Count',NULL,11877,NULL,NULL,NULL,37,NULL,NULL,NULL),(36367,'NCBI Gene Summary',NULL,11878,NULL,'This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36368,'NCBI Gene PubMed Count',NULL,11878,NULL,NULL,NULL,13,NULL,NULL,NULL),(36369,'NCBI Gene Summary',NULL,11879,NULL,'This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein may play a role in cancer progression. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(36370,'NCBI Gene PubMed Count',NULL,11879,NULL,NULL,NULL,37,NULL,NULL,NULL),(36371,'NCBI Gene Summary',NULL,11880,NULL,'This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36372,'NCBI Gene PubMed Count',NULL,11880,NULL,NULL,NULL,29,NULL,NULL,NULL),(36373,'NCBI Gene Summary',NULL,11881,NULL,'This gene encodes an oxidoreductase that promotes fatty-acid oxidation, with concomitant inflammasome activation, mitochondrial and NADPH-oxidase-dependent reactive oxygen species production, and bactericidal activity of macrophages. The encoded protein forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. Naturally occurring mutations in this gene are associated with inflammatory bowel disease, Behcet\'s disease, leprosy, ulcerative colitis, early-onset Crohn\'s disease, and systemic juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(36374,'NCBI Gene PubMed Count',NULL,11881,NULL,NULL,NULL,28,NULL,NULL,NULL),(36375,'NCBI Gene Summary',NULL,11882,NULL,'This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36376,'NCBI Gene PubMed Count',NULL,11882,NULL,NULL,NULL,29,NULL,NULL,NULL),(36377,'NCBI Gene Summary',NULL,11883,NULL,'Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme may degrade collagen type IV, fibronectin, fibrinogen, and beta-casein, and activate matrix metalloproteinase-9 by cleavage. The protein differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The encoded protein may promote cell invasion in multiple human cancers. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(36378,'NCBI Gene PubMed Count',NULL,11883,NULL,NULL,NULL,53,NULL,NULL,NULL),(36379,'NCBI Gene PubMed Count',NULL,11884,NULL,NULL,NULL,136,NULL,NULL,NULL),(36380,'NCBI Gene PubMed Count',NULL,11885,NULL,NULL,NULL,83,NULL,NULL,NULL),(36381,'NCBI Gene PubMed Count',NULL,11886,NULL,NULL,NULL,5,NULL,NULL,NULL),(36382,'NCBI Gene Summary',NULL,11887,NULL,'This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(36383,'NCBI Gene PubMed Count',NULL,11887,NULL,NULL,NULL,41,NULL,NULL,NULL),(36384,'NCBI Gene PubMed Count',NULL,11888,NULL,NULL,NULL,18,NULL,NULL,NULL),(36385,'NCBI Gene Summary',NULL,11889,NULL,'This gene is a member of the matrix metalloproteinase (MMP) gene family, that are zinc-dependent enzymes capable of cleaving components of the extracellular matrix and molecules involved in signal transduction. The protein encoded by this gene is a gelatinase A, type IV collagenase, that contains three fibronectin type II repeats in its catalytic site that allow binding of denatured type IV and V collagen and elastin. Unlike most MMP family members, activation of this protein can occur on the cell membrane. This enzyme can be activated extracellularly by proteases, or, intracellulary by its S-glutathiolation with no requirement for proteolytical removal of the pro-domain. This protein is thought to be involved in multiple pathways including roles in the nervous system, endometrial menstrual breakdown, regulation of vascularization, and metastasis. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(36386,'NCBI Gene PubMed Count',NULL,11889,NULL,NULL,NULL,1673,NULL,NULL,NULL),(36387,'NCBI Gene Summary',NULL,11890,NULL,'The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36388,'NCBI Gene PubMed Count',NULL,11890,NULL,NULL,NULL,57,NULL,NULL,NULL),(36389,'NCBI Gene PubMed Count',NULL,11891,NULL,NULL,NULL,14,NULL,NULL,NULL),(36390,'NCBI Gene Summary',NULL,11892,NULL,'This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(36391,'NCBI Gene PubMed Count',NULL,11892,NULL,NULL,NULL,27,NULL,NULL,NULL),(36392,'NCBI Gene Summary',NULL,11893,NULL,' Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels.  It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers.  Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V.  It may also have functions as an extracellular matrix or adhesive protein.  Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36393,'NCBI Gene PubMed Count',NULL,11893,NULL,NULL,NULL,30,NULL,NULL,NULL),(36394,'NCBI Gene PubMed Count',NULL,11894,NULL,NULL,NULL,15,NULL,NULL,NULL),(36395,'NCBI Gene Summary',NULL,11895,NULL,'The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The protein encoded by this gene is an S-type lectin. It is overexpressed in Hodgkin\'s disease tissue and might participate in the interaction between the H&RS cells with their surrounding cells and might thus play a role in the pathogenesis of this disease and/or its associated immunodeficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36396,'NCBI Gene PubMed Count',NULL,11895,NULL,NULL,NULL,145,NULL,NULL,NULL),(36397,'NCBI Gene Summary',NULL,11896,NULL,'This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a ligand of the T lymphocyte CD2 protein, and functions in adhesion and activation of T lymphocytes. The protein is localized to the plasma membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(36398,'NCBI Gene PubMed Count',NULL,11896,NULL,NULL,NULL,73,NULL,NULL,NULL),(36399,'NCBI Gene Summary',NULL,11897,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(36400,'NCBI Gene PubMed Count',NULL,11897,NULL,NULL,NULL,23,NULL,NULL,NULL),(36401,'NCBI Gene Summary',NULL,11898,NULL,'This gene encodes a member of the lysophospholipid acyltransferase family. The encoded protein catalyzes the reacylation of lysophosphatidylglycerol to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(36402,'NCBI Gene PubMed Count',NULL,11898,NULL,NULL,NULL,13,NULL,NULL,NULL),(36403,'NCBI Gene Summary',NULL,11899,NULL,'This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(36404,'NCBI Gene PubMed Count',NULL,11899,NULL,NULL,NULL,66,NULL,NULL,NULL),(36405,'NCBI Gene Summary',NULL,11900,NULL,'LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(36406,'NCBI Gene PubMed Count',NULL,11900,NULL,NULL,NULL,8,NULL,NULL,NULL),(36407,'NCBI Gene Summary',NULL,11901,NULL,'This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(36408,'NCBI Gene PubMed Count',NULL,11901,NULL,NULL,NULL,19,NULL,NULL,NULL),(36409,'NCBI Gene Summary',NULL,11902,NULL,'LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36410,'NCBI Gene PubMed Count',NULL,11902,NULL,NULL,NULL,700,NULL,NULL,NULL),(36411,'NCBI Gene PubMed Count',NULL,11903,NULL,NULL,NULL,5,NULL,NULL,NULL),(36412,'NCBI Gene Summary',NULL,11904,NULL,'This gene encodes a zinc-metallopeptidase. The encoded protein may play a role in cell migration and invasion. Studies of a similar protein in Drosophila indicate a potential role in mitotic progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(36413,'NCBI Gene PubMed Count',NULL,11904,NULL,NULL,NULL,5,NULL,NULL,NULL),(36414,'NCBI Gene PubMed Count',NULL,11905,NULL,NULL,NULL,6,NULL,NULL,NULL),(36415,'NCBI Gene PubMed Count',NULL,11906,NULL,NULL,NULL,0,NULL,NULL,NULL),(36416,'NCBI Gene PubMed Count',NULL,11907,NULL,NULL,NULL,15,NULL,NULL,NULL),(36417,'NCBI Gene Summary',NULL,11908,NULL,'This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(36418,'NCBI Gene PubMed Count',NULL,11908,NULL,NULL,NULL,27,NULL,NULL,NULL),(36419,'NCBI Gene Summary',NULL,11909,NULL,'The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36420,'NCBI Gene PubMed Count',NULL,11909,NULL,NULL,NULL,12,NULL,NULL,NULL),(36421,'NCBI Gene Summary',NULL,11910,NULL,'This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(36422,'NCBI Gene PubMed Count',NULL,11910,NULL,NULL,NULL,39,NULL,NULL,NULL),(36423,'NCBI Gene Summary',NULL,11911,NULL,'This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(36424,'NCBI Gene PubMed Count',NULL,11911,NULL,NULL,NULL,19,NULL,NULL,NULL),(36425,'NCBI Gene PubMed Count',NULL,11912,NULL,NULL,NULL,2,NULL,NULL,NULL),(36426,'NCBI Gene Summary',NULL,11913,NULL,'This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(36427,'NCBI Gene PubMed Count',NULL,11913,NULL,NULL,NULL,25,NULL,NULL,NULL),(36428,'NCBI Gene PubMed Count',NULL,11914,NULL,NULL,NULL,12,NULL,NULL,NULL),(36429,'NCBI Gene Summary',NULL,11915,NULL,'This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36430,'NCBI Gene PubMed Count',NULL,11915,NULL,NULL,NULL,33,NULL,NULL,NULL),(36431,'NCBI Gene Summary',NULL,11916,NULL,'This gene encodes a member of a subfamily of LIM domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(36432,'NCBI Gene PubMed Count',NULL,11916,NULL,NULL,NULL,67,NULL,NULL,NULL),(36433,'NCBI Gene Summary',NULL,11917,NULL,'Apolipoprotein(a) is the distinguishing protein moiety of lipoprotein(a), of which elevated plasma levels are correlated with an increased risk of atherosclerosis. This gene is similar to the lipoprotein, Lp(a) gene, but all transcripts produced by this gene contain a truncated open reading frame and are candidates for nonsense-mediated decay. Consequently, this gene is considered to be a pseudogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(36434,'NCBI Gene PubMed Count',NULL,11917,NULL,NULL,NULL,15,NULL,NULL,NULL),(36435,'NCBI Gene PubMed Count',NULL,11918,NULL,NULL,NULL,3,NULL,NULL,NULL),(36436,'NCBI Gene Summary',NULL,11919,NULL,'The protein encoded by this gene is a leucine-rich repeat containing protein that is a member of the PRAME family. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(36437,'NCBI Gene PubMed Count',NULL,11919,NULL,NULL,NULL,1,NULL,NULL,NULL),(36438,'NCBI Gene Summary',NULL,11920,NULL,'This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36439,'NCBI Gene PubMed Count',NULL,11920,NULL,NULL,NULL,13,NULL,NULL,NULL),(36440,'NCBI Gene PubMed Count',NULL,11921,NULL,NULL,NULL,1,NULL,NULL,NULL),(36441,'NCBI Gene PubMed Count',NULL,11922,NULL,NULL,NULL,1,NULL,NULL,NULL),(36442,'NCBI Gene PubMed Count',NULL,11923,NULL,NULL,NULL,10,NULL,NULL,NULL),(36443,'NCBI Gene PubMed Count',NULL,11924,NULL,NULL,NULL,9,NULL,NULL,NULL),(36444,'NCBI Gene Summary',NULL,11925,NULL,'This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36445,'NCBI Gene PubMed Count',NULL,11925,NULL,NULL,NULL,25,NULL,NULL,NULL),(36446,'NCBI Gene PubMed Count',NULL,11926,NULL,NULL,NULL,10,NULL,NULL,NULL),(36447,'NCBI Gene Summary',NULL,11927,NULL,'The protein encoded by this gene, along with MYD88, binds to the cytosolic tail of toll-like receptor 4 (TLR4), which results in activation of nuclear factor kappa B signaling. The ubiquitin-like protein FAT10 prevents the interaction of the encoded protein and TLR4, thereby inactivating the nuclear factor kappa B signaling pathway. In addition, this protein can downregulate the NLRP3 inflammasome by recruiting the caspase-1 inhibitor Flightless-I to the inflammasome complex. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(36448,'NCBI Gene PubMed Count',NULL,11927,NULL,NULL,NULL,16,NULL,NULL,NULL),(36449,'NCBI Gene Summary',NULL,11928,NULL,'Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(36450,'NCBI Gene PubMed Count',NULL,11928,NULL,NULL,NULL,17,NULL,NULL,NULL),(36451,'NCBI Gene PubMed Count',NULL,11929,NULL,NULL,NULL,19,NULL,NULL,NULL),(36452,'NCBI Gene Summary',NULL,11930,NULL,'The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(36453,'NCBI Gene PubMed Count',NULL,11930,NULL,NULL,NULL,128,NULL,NULL,NULL),(36454,'NCBI Gene PubMed Count',NULL,11931,NULL,NULL,NULL,4,NULL,NULL,NULL),(36455,'NCBI Gene Summary',NULL,11932,NULL,'This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36456,'NCBI Gene PubMed Count',NULL,11932,NULL,NULL,NULL,64,NULL,NULL,NULL),(36457,'NCBI Gene PubMed Count',NULL,11933,NULL,NULL,NULL,6,NULL,NULL,NULL),(36458,'NCBI Gene PubMed Count',NULL,11934,NULL,NULL,NULL,6,NULL,NULL,NULL),(36459,'NCBI Gene PubMed Count',NULL,11935,NULL,NULL,NULL,3,NULL,NULL,NULL),(36460,'NCBI Gene PubMed Count',NULL,11936,NULL,NULL,NULL,7,NULL,NULL,NULL),(36461,'NCBI Gene Summary',NULL,11937,NULL,'This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(36462,'NCBI Gene PubMed Count',NULL,11937,NULL,NULL,NULL,23,NULL,NULL,NULL),(36463,'NCBI Gene Summary',NULL,11938,NULL,'The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(36464,'NCBI Gene PubMed Count',NULL,11938,NULL,NULL,NULL,11,NULL,NULL,NULL),(36465,'NCBI Gene PubMed Count',NULL,11939,NULL,NULL,NULL,5,NULL,NULL,NULL),(36466,'NCBI Gene PubMed Count',NULL,11940,NULL,NULL,NULL,9,NULL,NULL,NULL),(36467,'NCBI Gene PubMed Count',NULL,11941,NULL,NULL,NULL,286,NULL,NULL,NULL),(36468,'NCBI Gene Summary',NULL,11942,NULL,'This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(36469,'NCBI Gene PubMed Count',NULL,11942,NULL,NULL,NULL,58,NULL,NULL,NULL),(36470,'NCBI Gene Summary',NULL,11943,NULL,'This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5\' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(36471,'NCBI Gene PubMed Count',NULL,11943,NULL,NULL,NULL,46,NULL,NULL,NULL),(36472,'NCBI Gene PubMed Count',NULL,11944,NULL,NULL,NULL,15,NULL,NULL,NULL),(36473,'NCBI Gene Summary',NULL,11945,NULL,'This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36474,'NCBI Gene PubMed Count',NULL,11945,NULL,NULL,NULL,12,NULL,NULL,NULL),(36475,'NCBI Gene Summary',NULL,11946,NULL,'The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36476,'NCBI Gene PubMed Count',NULL,11946,NULL,NULL,NULL,36,NULL,NULL,NULL),(36477,'NCBI Gene PubMed Count',NULL,11947,NULL,NULL,NULL,7,NULL,NULL,NULL),(36478,'NCBI Gene PubMed Count',NULL,11948,NULL,NULL,NULL,4,NULL,NULL,NULL),(36479,'NCBI Gene Summary',NULL,11949,NULL,'The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(36480,'NCBI Gene PubMed Count',NULL,11949,NULL,NULL,NULL,19,NULL,NULL,NULL),(36481,'NCBI Gene Summary',NULL,11950,NULL,'This gene encodes a member of the lysophosphatidic acid receptor family. It may also be related to the P2Y receptors, a family of receptors that bind purine and pyrimidine nucleotides and are coupled to G proteins. The encoded protein may play a role in monocytic differentiation. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(36482,'NCBI Gene PubMed Count',NULL,11950,NULL,NULL,NULL,20,NULL,NULL,NULL),(36483,'NCBI Gene Summary',NULL,11951,NULL,'This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(36484,'NCBI Gene PubMed Count',NULL,11951,NULL,NULL,NULL,87,NULL,NULL,NULL),(36485,'NCBI Gene Summary',NULL,11952,NULL,'This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(36486,'NCBI Gene PubMed Count',NULL,11952,NULL,NULL,NULL,17,NULL,NULL,NULL),(36487,'NCBI Gene Summary',NULL,11953,NULL,'This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(36488,'NCBI Gene PubMed Count',NULL,11953,NULL,NULL,NULL,1564,NULL,NULL,NULL),(36489,'NCBI Gene PubMed Count',NULL,11954,NULL,NULL,NULL,7,NULL,NULL,NULL),(36490,'NCBI Gene Summary',NULL,11955,NULL,'This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(36491,'NCBI Gene PubMed Count',NULL,11955,NULL,NULL,NULL,9,NULL,NULL,NULL),(36492,'NCBI Gene Summary',NULL,11956,NULL,'The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36493,'NCBI Gene PubMed Count',NULL,11956,NULL,NULL,NULL,95,NULL,NULL,NULL),(36494,'NCBI Gene Summary',NULL,11957,NULL,'The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(36495,'NCBI Gene PubMed Count',NULL,11957,NULL,NULL,NULL,149,NULL,NULL,NULL),(36496,'NCBI Gene Summary',NULL,11958,NULL,'This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in the control of differentiation and development of the forebrain. In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development. This protein is involved in learning and motor functions in adult mice. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36497,'NCBI Gene PubMed Count',NULL,11958,NULL,NULL,NULL,8,NULL,NULL,NULL),(36498,'NCBI Gene Summary',NULL,11959,NULL,'This gene encodes a member of the LIM homeobox gene family of developmentally expressed transcription factors. The encoded protein contains a homeodomain and two cysteine-rich zinc-binding LIM domains involved in protein-protein interactions. The protein is highly similar to a mouse protein that causes gonadal agenesis when inactivated, suggesting a role in gonadal development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36499,'NCBI Gene PubMed Count',NULL,11959,NULL,NULL,NULL,14,NULL,NULL,NULL),(36500,'NCBI Gene PubMed Count',NULL,11960,NULL,NULL,NULL,51,NULL,NULL,NULL),(36501,'NCBI Gene Summary',NULL,11961,NULL,'This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36502,'NCBI Gene PubMed Count',NULL,11961,NULL,NULL,NULL,11,NULL,NULL,NULL),(36503,'NCBI Gene Summary',NULL,11962,NULL,'The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36504,'NCBI Gene PubMed Count',NULL,11962,NULL,NULL,NULL,95,NULL,NULL,NULL),(36505,'NCBI Gene Summary',NULL,11963,NULL,'The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(36506,'NCBI Gene PubMed Count',NULL,11963,NULL,NULL,NULL,7,NULL,NULL,NULL),(36507,'NCBI Gene Summary',NULL,11964,NULL,'This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(36508,'NCBI Gene PubMed Count',NULL,11964,NULL,NULL,NULL,42,NULL,NULL,NULL),(36509,'NCBI Gene PubMed Count',NULL,11965,NULL,NULL,NULL,3,NULL,NULL,NULL),(36510,'NCBI Gene Summary',NULL,11966,NULL,'The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(36511,'NCBI Gene PubMed Count',NULL,11966,NULL,NULL,NULL,5,NULL,NULL,NULL),(36512,'NCBI Gene Summary',NULL,11967,NULL,'The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36513,'NCBI Gene PubMed Count',NULL,11967,NULL,NULL,NULL,7,NULL,NULL,NULL),(36514,'NCBI Gene PubMed Count',NULL,11968,NULL,NULL,NULL,26,NULL,NULL,NULL),(36515,'NCBI Gene PubMed Count',NULL,11969,NULL,NULL,NULL,14,NULL,NULL,NULL),(36516,'NCBI Gene Summary',NULL,11970,NULL,'This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson\'s disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(36517,'NCBI Gene PubMed Count',NULL,11970,NULL,NULL,NULL,39,NULL,NULL,NULL),(36518,'NCBI Gene Summary',NULL,11971,NULL,'This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(36519,'NCBI Gene PubMed Count',NULL,11971,NULL,NULL,NULL,20,NULL,NULL,NULL),(36520,'NCBI Gene PubMed Count',NULL,11972,NULL,NULL,NULL,6,NULL,NULL,NULL),(36521,'NCBI Gene Summary',NULL,11973,NULL,'The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(36522,'NCBI Gene PubMed Count',NULL,11973,NULL,NULL,NULL,612,NULL,NULL,NULL),(36523,'NCBI Gene Summary',NULL,11974,NULL,'This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36524,'NCBI Gene PubMed Count',NULL,11974,NULL,NULL,NULL,34,NULL,NULL,NULL),(36525,'NCBI Gene PubMed Count',NULL,11975,NULL,NULL,NULL,16,NULL,NULL,NULL),(36526,'NCBI Gene Summary',NULL,11976,NULL,'The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial cells. The encoded protein contains about 60 tandem repeats, with each repeat being around 60 aa. N-glycosylation enables the encoded protein to localize on the cell surface, while the C-terminus interacts with the scaffold protein PDZ domain containing 1 (PDZK1). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(36527,'NCBI Gene PubMed Count',NULL,11976,NULL,NULL,NULL,22,NULL,NULL,NULL),(36528,'NCBI Gene Summary',NULL,11977,NULL,'This gene encodes a member of the gel-forming mucin protein family. Mucin family members are glycoproteins that have tandem repeats which are extensively O-glycosylated. The structural features of mucin proteins are responsible for the gel-like properties of mucus. The encoded protein may be involved in disruption of the ocular surface in Sjogren syndrome. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(36529,'NCBI Gene PubMed Count',NULL,11977,NULL,NULL,NULL,22,NULL,NULL,NULL),(36530,'NCBI Gene Summary',NULL,11978,NULL,'This gene encodes a large membrane-bound glycoprotein which is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. The encoded protein contains an N-terminal signal sequence, an extracellular mucin domain, a stem domain, a transmembrane domain, and a C-terminal cytoplasmic tail domain. The mucin domain contains O-glycosylation sites and is polymorphic with isoforms containing a variable number of nonidentical proline-, threonine-, and serine-rich tandem repeats of 15 amino acids each. The aberrent expression of this gene is associated with lung adenocarcinoma. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(36531,'NCBI Gene PubMed Count',NULL,11978,NULL,NULL,NULL,22,NULL,NULL,NULL),(36532,'NCBI Gene PubMed Count',NULL,11979,NULL,NULL,NULL,13,NULL,NULL,NULL),(36533,'NCBI Gene Summary',NULL,11980,NULL,'This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(36534,'NCBI Gene PubMed Count',NULL,11980,NULL,NULL,NULL,32,NULL,NULL,NULL),(36535,'NCBI Gene Summary',NULL,11981,NULL,'This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]',NULL,NULL,NULL,NULL,NULL),(36536,'NCBI Gene PubMed Count',NULL,11981,NULL,NULL,NULL,86,NULL,NULL,NULL),(36537,'NCBI Gene PubMed Count',NULL,11982,NULL,NULL,NULL,9,NULL,NULL,NULL),(36538,'NCBI Gene PubMed Count',NULL,11983,NULL,NULL,NULL,4,NULL,NULL,NULL),(36539,'NCBI Gene PubMed Count',NULL,11984,NULL,NULL,NULL,10,NULL,NULL,NULL),(36540,'NCBI Gene Summary',NULL,11985,NULL,'The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(36541,'NCBI Gene PubMed Count',NULL,11985,NULL,NULL,NULL,7,NULL,NULL,NULL),(36542,'NCBI Gene Summary',NULL,11986,NULL,'The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(36543,'NCBI Gene PubMed Count',NULL,11986,NULL,NULL,NULL,64,NULL,NULL,NULL),(36544,'NCBI Gene Summary',NULL,11987,NULL,'The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(36545,'NCBI Gene PubMed Count',NULL,11987,NULL,NULL,NULL,13,NULL,NULL,NULL),(36546,'NCBI Gene Summary',NULL,11988,NULL,'This gene encodes a member of a family of immunoreceptors that are expressed predominantly in monocytes and B cells, and at lower levels in dendritic cells and natural killer cells. The encoded protein lacks the transmembrane region found in other members of this family. It acts as a soluble receptor for class I major histocompatibility complex (MHC) antigens. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and is polymorphic in human populations, with many individuals containing a deletion of this genomic region. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(36547,'NCBI Gene PubMed Count',NULL,11988,NULL,NULL,NULL,43,NULL,NULL,NULL),(36548,'NCBI Gene Summary',NULL,11989,NULL,'This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(36549,'NCBI Gene PubMed Count',NULL,11989,NULL,NULL,NULL,33,NULL,NULL,NULL),(36550,'NCBI Gene Summary',NULL,11990,NULL,'This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36551,'NCBI Gene PubMed Count',NULL,11990,NULL,NULL,NULL,127,NULL,NULL,NULL),(36552,'NCBI Gene Summary',NULL,11992,NULL,'The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(36553,'NCBI Gene PubMed Count',NULL,11992,NULL,NULL,NULL,37,NULL,NULL,NULL),(36554,'NCBI Gene Summary',NULL,11993,NULL,'This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(36555,'NCBI Gene PubMed Count',NULL,11993,NULL,NULL,NULL,104,NULL,NULL,NULL),(36556,'NCBI Gene Summary',NULL,11994,NULL,'This gene encodes a member of the galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36557,'NCBI Gene PubMed Count',NULL,11994,NULL,NULL,NULL,75,NULL,NULL,NULL),(36558,'NCBI Gene PubMed Count',NULL,11995,NULL,NULL,NULL,12,NULL,NULL,NULL),(36559,'NCBI Gene PubMed Count',NULL,11996,NULL,NULL,NULL,18,NULL,NULL,NULL),(36560,'NCBI Gene Summary',NULL,11997,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. This gene is closely linked to both a related family member and a related pseudogene. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(36561,'NCBI Gene PubMed Count',NULL,11997,NULL,NULL,NULL,30,NULL,NULL,NULL),(36562,'NCBI Gene Summary',NULL,11998,NULL,'The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36563,'NCBI Gene PubMed Count',NULL,11998,NULL,NULL,NULL,14,NULL,NULL,NULL),(36564,'NCBI Gene PubMed Count',NULL,11999,NULL,NULL,NULL,3,NULL,NULL,NULL),(36565,'NCBI Gene Summary',NULL,12000,NULL,'This gene encodes a transmembrane adaptor protein that links the T and B-cell receptor stimulation to downstream signaling pathways via its association with the Src family kinases Lck and Lyn, respectively. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(36566,'NCBI Gene PubMed Count',NULL,12000,NULL,NULL,NULL,18,NULL,NULL,NULL),(36567,'NCBI Gene PubMed Count',NULL,12001,NULL,NULL,NULL,5,NULL,NULL,NULL),(36568,'NCBI Gene Summary',NULL,12002,NULL,'There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(36569,'NCBI Gene PubMed Count',NULL,12002,NULL,NULL,NULL,114,NULL,NULL,NULL),(36570,'NCBI Gene Summary',NULL,12003,NULL,'The protein encoded by this gene is involved in generating and maintaining the asymmetric distribution of channels and receptors at the cell membrane. The encoded protein also is required for the localization of some specific channels and can be part of a protein complex that couples synaptic vesicle exocytosis to cell adhesion in the brain. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(36571,'NCBI Gene PubMed Count',NULL,12003,NULL,NULL,NULL,28,NULL,NULL,NULL),(36572,'NCBI Gene Summary',NULL,12004,NULL,'The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(36573,'NCBI Gene PubMed Count',NULL,12004,NULL,NULL,NULL,4,NULL,NULL,NULL),(36574,'NCBI Gene PubMed Count',NULL,12005,NULL,NULL,NULL,10,NULL,NULL,NULL),(36575,'NCBI Gene Summary',NULL,12006,NULL,'This gene encodes a protein belonging to the L-type lectin group of type 1 membrane proteins, which function in the mammalian early secretory pathway. These proteins contain luminal carbohydrate recognition domains, which display homology to leguminous lectins. Unlike other proteins of the group, which cycle in the early secretory pathway and are predominantly associated with post endoplasmic reticulum membranes, the protein encoded by this gene is a non-cycling resident protein of the ER, where it functions as a cargo receptor for glycoproteins. It is proposed to regulate exchange of folded proteins for transport to the Golgi and exchange of misfolded glycoproteins for transport to the ubiquitin-proteasome pathway. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(36576,'NCBI Gene PubMed Count',NULL,12006,NULL,NULL,NULL,19,NULL,NULL,NULL),(36577,'NCBI Gene Summary',NULL,12007,NULL,'This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(36578,'NCBI Gene PubMed Count',NULL,12007,NULL,NULL,NULL,19,NULL,NULL,NULL),(36579,'NCBI Gene Summary',NULL,12008,NULL,'The protein encoded by this gene belongs to the rhombotin family of cysteine-rich LIM domain oncogenes. This gene is predominantly expressed in the brain. Related family members, LMO1 and LMO2 on chromosome 11, have been reported to be involved in chromosomal translocations in T-cell leukemia. Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(36580,'NCBI Gene PubMed Count',NULL,12008,NULL,NULL,NULL,21,NULL,NULL,NULL),(36581,'NCBI Gene Summary',NULL,12009,NULL,'This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(36582,'NCBI Gene PubMed Count',NULL,12009,NULL,NULL,NULL,17,NULL,NULL,NULL),(36583,'NCBI Gene Summary',NULL,12010,NULL,'This gene encodes a cysteine-rich protein that contains two LIM domains but lacks a DNA-binding homeodomain. The encoded protein may play a role as a transcriptional regulator or as an oncogene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(36584,'NCBI Gene PubMed Count',NULL,12010,NULL,NULL,NULL,39,NULL,NULL,NULL),(36585,'NCBI Gene PubMed Count',NULL,12011,NULL,NULL,NULL,2,NULL,NULL,NULL),(36586,'NCBI Gene Summary',NULL,12012,NULL,'This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain, and may be involved in protein-protein interactions. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, however, the full-length nature of some variants is not known. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(36587,'NCBI Gene PubMed Count',NULL,12012,NULL,NULL,NULL,27,NULL,NULL,NULL),(36588,'NCBI Gene Summary',NULL,12013,NULL,'The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36589,'NCBI Gene PubMed Count',NULL,12013,NULL,NULL,NULL,19,NULL,NULL,NULL),(36590,'NCBI Gene Summary',NULL,12014,NULL,'This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(36591,'NCBI Gene PubMed Count',NULL,12014,NULL,NULL,NULL,19,NULL,NULL,NULL),(36592,'NCBI Gene Summary',NULL,12015,NULL,'LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36593,'NCBI Gene PubMed Count',NULL,12015,NULL,NULL,NULL,311,NULL,NULL,NULL),(36594,'NCBI Gene PubMed Count',NULL,12016,NULL,NULL,NULL,2,NULL,NULL,NULL),(36595,'NCBI Gene PubMed Count',NULL,12017,NULL,NULL,NULL,2,NULL,NULL,NULL),(36596,'NCBI Gene PubMed Count',NULL,12018,NULL,NULL,NULL,1,NULL,NULL,NULL),(36597,'NCBI Gene Summary',NULL,12019,NULL,'The protein encoded by this gene is an enzyme that contains both hydrolase and aminopeptidase activities. The hydrolase activity is used in the final step of the biosynthesis of leukotriene B4, a proinflammatory mediator. The aminopeptidase activity has been shown to degrade proline-glycine-proline (PGP), a neutrophil chemoattractant and biomarker for chronic obstructive pulmonary disease (COPD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(36598,'NCBI Gene PubMed Count',NULL,12019,NULL,NULL,NULL,79,NULL,NULL,NULL),(36599,'NCBI Gene Summary',NULL,12020,NULL,'This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(36600,'NCBI Gene PubMed Count',NULL,12020,NULL,NULL,NULL,19,NULL,NULL,NULL),(36601,'NCBI Gene Summary',NULL,12021,NULL,'This gene encodes a member of a family of immunoreceptors that are expressed predominantly on monocytes and B cells, and at lower levels on dendritic cells and natural killer cells. The encoded protein is an activating receptor that inhibits dendritic cell differentiation and antigen presentation and suppresses innate immune response. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and there is a pseudogene for this gene on chromosome 3. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(36602,'NCBI Gene PubMed Count',NULL,12021,NULL,NULL,NULL,26,NULL,NULL,NULL),(36603,'NCBI Gene Summary',NULL,12022,NULL,'The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(36604,'NCBI Gene PubMed Count',NULL,12022,NULL,NULL,NULL,627,NULL,NULL,NULL),(36605,'NCBI Gene Summary',NULL,12023,NULL,'This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(36606,'NCBI Gene PubMed Count',NULL,12023,NULL,NULL,NULL,16,NULL,NULL,NULL),(36607,'NCBI Gene Summary',NULL,12024,NULL,' The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks.  The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves\' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36608,'NCBI Gene PubMed Count',NULL,12024,NULL,NULL,NULL,24,NULL,NULL,NULL),(36609,'NCBI Gene PubMed Count',NULL,12025,NULL,NULL,NULL,5,NULL,NULL,NULL),(36610,'NCBI Gene Summary',NULL,12026,NULL,'The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(36611,'NCBI Gene PubMed Count',NULL,12026,NULL,NULL,NULL,138,NULL,NULL,NULL),(36612,'NCBI Gene PubMed Count',NULL,12027,NULL,NULL,NULL,3,NULL,NULL,NULL),(36613,'NCBI Gene PubMed Count',NULL,12028,NULL,NULL,NULL,7,NULL,NULL,NULL),(36614,'NCBI Gene PubMed Count',NULL,12029,NULL,NULL,NULL,2,NULL,NULL,NULL),(36615,'NCBI Gene Summary',NULL,12030,NULL,'This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(36616,'NCBI Gene PubMed Count',NULL,12030,NULL,NULL,NULL,26,NULL,NULL,NULL),(36617,'NCBI Gene Summary',NULL,12031,NULL,'This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(36618,'NCBI Gene PubMed Count',NULL,12031,NULL,NULL,NULL,190,NULL,NULL,NULL),(36619,'NCBI Gene PubMed Count',NULL,12032,NULL,NULL,NULL,6,NULL,NULL,NULL),(36620,'NCBI Gene PubMed Count',NULL,12033,NULL,NULL,NULL,10,NULL,NULL,NULL),(36621,'NCBI Gene PubMed Count',NULL,12034,NULL,NULL,NULL,2,NULL,NULL,NULL),(36622,'NCBI Gene Summary',NULL,12035,NULL,'This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(36623,'NCBI Gene PubMed Count',NULL,12035,NULL,NULL,NULL,24,NULL,NULL,NULL),(36624,'NCBI Gene Summary',NULL,12036,NULL,'The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family includes a number of human proteins, several of which are involved the production of leukotrienes. This gene encodes an enzyme that catalyzes the first step in the biosynthesis of cysteinyl leukotrienes, potent biological compounds derived from arachidonic acid. Leukotrienes have been implicated as mediators of anaphylaxis and inflammatory conditions such as human bronchial asthma. This protein localizes to the nuclear envelope and adjacent endoplasmic reticulum. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36625,'NCBI Gene PubMed Count',NULL,12036,NULL,NULL,NULL,89,NULL,NULL,NULL),(36626,'NCBI Gene Summary',NULL,12037,NULL,'The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36627,'NCBI Gene PubMed Count',NULL,12037,NULL,NULL,NULL,371,NULL,NULL,NULL),(36628,'NCBI Gene PubMed Count',NULL,12038,NULL,NULL,NULL,13,NULL,NULL,NULL),(36629,'NCBI Gene Summary',NULL,12039,NULL,'This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36630,'NCBI Gene PubMed Count',NULL,12039,NULL,NULL,NULL,12,NULL,NULL,NULL),(36631,'NCBI Gene Summary',NULL,12040,NULL,'This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36632,'NCBI Gene PubMed Count',NULL,12040,NULL,NULL,NULL,11,NULL,NULL,NULL),(36633,'NCBI Gene PubMed Count',NULL,12041,NULL,NULL,NULL,21,NULL,NULL,NULL),(36634,'NCBI Gene Summary',NULL,12042,NULL,'This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(36635,'NCBI Gene PubMed Count',NULL,12042,NULL,NULL,NULL,66,NULL,NULL,NULL),(36636,'NCBI Gene Summary',NULL,12043,NULL,'This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(36637,'NCBI Gene PubMed Count',NULL,12043,NULL,NULL,NULL,130,NULL,NULL,NULL),(36638,'NCBI Gene Summary',NULL,12044,NULL,'This gene encodes a mannose-binding type 1 transmembrane protein that contains an N-terminal lectin-like carbohydrate recognition domain. The encoded protein is similar in structure to lectins found in leguminous plants. This lectin is thought to transport newly synthesized glycoproteins from the endoplasmic reticulum (ER) to the ER-Golgi intermediate compartment. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(36639,'NCBI Gene PubMed Count',NULL,12044,NULL,NULL,NULL,15,NULL,NULL,NULL),(36640,'NCBI Gene PubMed Count',NULL,12045,NULL,NULL,NULL,9,NULL,NULL,NULL),(36641,'NCBI Gene PubMed Count',NULL,12046,NULL,NULL,NULL,6,NULL,NULL,NULL),(36642,'NCBI Gene Summary',NULL,12047,NULL,'The protein encoded by this gene belongs to the lin-28 family, which is characterized by the presence of a cold-shock domain and a pair of CCHC zinc finger domains. This gene is highly expressed in testis, fetal liver, placenta, and in primary human tumors and cancer cell lines. It is negatively regulated by microRNAs that target sites in the 3\' UTR, and overexpression of this gene in primary tumors is linked to the repression of let-7 family of microRNAs and derepression of let-7 targets, which facilitates cellular transformation. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(36643,'NCBI Gene PubMed Count',NULL,12047,NULL,NULL,NULL,107,NULL,NULL,NULL),(36644,'NCBI Gene PubMed Count',NULL,12049,NULL,NULL,NULL,12,NULL,NULL,NULL),(36645,'NCBI Gene PubMed Count',NULL,12050,NULL,NULL,NULL,16,NULL,NULL,NULL),(36646,'NCBI Gene Summary',NULL,12051,NULL,'This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36647,'NCBI Gene PubMed Count',NULL,12051,NULL,NULL,NULL,38,NULL,NULL,NULL),(36648,'NCBI Gene PubMed Count',NULL,12052,NULL,NULL,NULL,5,NULL,NULL,NULL),(36649,'NCBI Gene PubMed Count',NULL,12053,NULL,NULL,NULL,3,NULL,NULL,NULL),(36650,'NCBI Gene PubMed Count',NULL,12054,NULL,NULL,NULL,8,NULL,NULL,NULL),(36651,'NCBI Gene Summary',NULL,12055,NULL,'This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(36652,'NCBI Gene PubMed Count',NULL,12055,NULL,NULL,NULL,13,NULL,NULL,NULL),(36653,'NCBI Gene PubMed Count',NULL,12056,NULL,NULL,NULL,7,NULL,NULL,NULL),(36654,'NCBI Gene Summary',NULL,12057,NULL,'This gene has evolved in primates as a fusion of two ancestral neighboring genes, Lrrc51 and Tomt, which exist as two independent genes in rodents. The fusion gene contains some shared exons, but encodes structurally unrelated proteins, LRTOMT1 and LRTOMT2. Those variants that utilize the more centromere-proximal 3\' terminal exon (short transcript form) encode LRTOMT1, while those variants that use a more centromere-distal 3\' terminal exon (long transcript form) encode the LRTOMT2 protein. There is a small region within one of the exons of this gene that contains overlapping alternate reading frames for both LRTOMT1 and LRTOMT2. LRTOMT1 shares similarity with the protein encoded by mouse Lrrc51, while LRTOMT2 shares similarity with the protein encoded by mouse Tomt. Alternative splicing results in multiple transcript variants, encoding different isoforms of both LRTOMT1 and LRTOMT2. The LRTOMT1 protein is a leucine-rich repeat-containing protein, while the LRTOMT2 protein is a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated with nonsyndromic deafness. [provided by RefSeq, Nov 2017]',NULL,NULL,NULL,NULL,NULL),(36655,'NCBI Gene PubMed Count',NULL,12057,NULL,NULL,NULL,13,NULL,NULL,NULL),(36656,'NCBI Gene PubMed Count',NULL,12058,NULL,NULL,NULL,18,NULL,NULL,NULL),(36657,'NCBI Gene Summary',NULL,12059,NULL,'The protein encoded by this gene is a tumor suppressor, with lowered expression levels found in gastric, renal, colorectal, lung, and breast cancer tissues. The promoter of this gene is frequently hypermethylated in these cancer tissues, although the hypermethylation does not appear to be the cause of the reduced expression of this gene. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(36658,'NCBI Gene PubMed Count',NULL,12059,NULL,NULL,NULL,16,NULL,NULL,NULL),(36659,'NCBI Gene PubMed Count',NULL,12060,NULL,NULL,NULL,3,NULL,NULL,NULL),(36660,'NCBI Gene Summary',NULL,12061,NULL,'This gene encodes a protein related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(36661,'NCBI Gene PubMed Count',NULL,12061,NULL,NULL,NULL,14,NULL,NULL,NULL),(36662,'NCBI Gene PubMed Count',NULL,12062,NULL,NULL,NULL,5,NULL,NULL,NULL),(36663,'NCBI Gene Summary',NULL,12063,NULL,'The protein encoded by this gene is a membrane protein that can inhibit the proliferation of lymphocytes. Expression of this gene is enhanced by lipopolysaccharide, interferon-gamma, and bacteria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(36664,'NCBI Gene PubMed Count',NULL,12063,NULL,NULL,NULL,39,NULL,NULL,NULL),(36665,'NCBI Gene PubMed Count',NULL,12064,NULL,NULL,NULL,15,NULL,NULL,NULL),(36666,'NCBI Gene PubMed Count',NULL,12065,NULL,NULL,NULL,8,NULL,NULL,NULL),(36667,'NCBI Gene Summary',NULL,12066,NULL,'Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(36668,'NCBI Gene PubMed Count',NULL,12066,NULL,NULL,NULL,13,NULL,NULL,NULL),(36669,'NCBI Gene Summary',NULL,12067,NULL,'This locus represents naturally occurring read-through transcription between the neighboring LYNX1 and SLURP2 genes. The readthrough transcript encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The significance of this read-through transcription and the function of the resulting protein product have not yet been determined. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(36670,'NCBI Gene PubMed Count',NULL,12067,NULL,NULL,NULL,3,NULL,NULL,NULL),(36671,'NCBI Gene PubMed Count',NULL,12068,NULL,NULL,NULL,5,NULL,NULL,NULL),(36672,'NCBI Gene PubMed Count',NULL,12069,NULL,NULL,NULL,23,NULL,NULL,NULL),(36673,'NCBI Gene Summary',NULL,12070,NULL,'This gene encodes a protein which associates with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. Studies of the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(36674,'NCBI Gene PubMed Count',NULL,12070,NULL,NULL,NULL,130,NULL,NULL,NULL),(36675,'NCBI Gene PubMed Count',NULL,12071,NULL,NULL,NULL,7,NULL,NULL,NULL),(36676,'NCBI Gene PubMed Count',NULL,12072,NULL,NULL,NULL,6,NULL,NULL,NULL),(36677,'NCBI Gene PubMed Count',NULL,12073,NULL,NULL,NULL,3,NULL,NULL,NULL),(36678,'NCBI Gene PubMed Count',NULL,12074,NULL,NULL,NULL,15,NULL,NULL,NULL),(36679,'NCBI Gene Summary',NULL,12075,NULL,'This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(36680,'NCBI Gene PubMed Count',NULL,12075,NULL,NULL,NULL,13,NULL,NULL,NULL),(36681,'NCBI Gene PubMed Count',NULL,12076,NULL,NULL,NULL,3,NULL,NULL,NULL),(36682,'NCBI Gene Summary',NULL,12077,NULL,'This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(36683,'NCBI Gene PubMed Count',NULL,12077,NULL,NULL,NULL,23,NULL,NULL,NULL),(36684,'NCBI Gene Summary',NULL,12078,NULL,'Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2 DNA-binding activity consists of a heterodimer containing a ubiquitous small Maf protein (MafF, MIM 604877; MafG; or MafK, MIM 600197) and the tissue-restricted protein p45 NFE2 (MIM 601490). Both subunits are members of the activator protein-1-like superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160).[supplied by OMIM, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(36685,'NCBI Gene PubMed Count',NULL,12078,NULL,NULL,NULL,37,NULL,NULL,NULL),(36686,'NCBI Gene Summary',NULL,12079,NULL,'This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(36687,'NCBI Gene PubMed Count',NULL,12079,NULL,NULL,NULL,45,NULL,NULL,NULL),(36688,'NCBI Gene Summary',NULL,12080,NULL,'The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(36689,'NCBI Gene PubMed Count',NULL,12080,NULL,NULL,NULL,87,NULL,NULL,NULL),(36690,'NCBI Gene Summary',NULL,12081,NULL,'This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(36691,'NCBI Gene PubMed Count',NULL,12081,NULL,NULL,NULL,46,NULL,NULL,NULL),(36692,'NCBI Gene Summary',NULL,12082,NULL,'This gene encodes an element of the machinery for raft-mediated trafficking in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in glycolipid- and cholesterol-enriched membrane (GEM) rafts. It interacts with caveolin-1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36693,'NCBI Gene PubMed Count',NULL,12082,NULL,NULL,NULL,15,NULL,NULL,NULL),(36694,'NCBI Gene Summary',NULL,12083,NULL,'The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36695,'NCBI Gene PubMed Count',NULL,12083,NULL,NULL,NULL,32,NULL,NULL,NULL),(36696,'NCBI Gene Summary',NULL,12084,NULL,'The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(36697,'NCBI Gene PubMed Count',NULL,12084,NULL,NULL,NULL,57,NULL,NULL,NULL),(36698,'NCBI Gene Summary',NULL,12085,NULL,' The protein encoded by this gene is a member of the RP/EB family of genes.  The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36699,'NCBI Gene PubMed Count',NULL,12085,NULL,NULL,NULL,38,NULL,NULL,NULL),(36700,'NCBI Gene Summary',NULL,12086,NULL,'This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36701,'NCBI Gene PubMed Count',NULL,12086,NULL,NULL,NULL,45,NULL,NULL,NULL),(36702,'NCBI Gene PubMed Count',NULL,12087,NULL,NULL,NULL,7,NULL,NULL,NULL),(36703,'NCBI Gene PubMed Count',NULL,12088,NULL,NULL,NULL,13,NULL,NULL,NULL),(36704,'NCBI Gene PubMed Count',NULL,12089,NULL,NULL,NULL,6,NULL,NULL,NULL),(36705,'NCBI Gene PubMed Count',NULL,12090,NULL,NULL,NULL,4,NULL,NULL,NULL),(36706,'NCBI Gene Summary',NULL,12091,NULL,'This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(36707,'NCBI Gene PubMed Count',NULL,12091,NULL,NULL,NULL,15,NULL,NULL,NULL),(36708,'NCBI Gene PubMed Count',NULL,12092,NULL,NULL,NULL,12,NULL,NULL,NULL),(36709,'NCBI Gene PubMed Count',NULL,12093,NULL,NULL,NULL,4,NULL,NULL,NULL),(36710,'NCBI Gene PubMed Count',NULL,12094,NULL,NULL,NULL,11,NULL,NULL,NULL),(36711,'NCBI Gene Summary',NULL,12095,NULL,'This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(36712,'NCBI Gene PubMed Count',NULL,12095,NULL,NULL,NULL,84,NULL,NULL,NULL),(36713,'NCBI Gene Summary',NULL,12096,NULL,'This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe\'s disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(36714,'NCBI Gene PubMed Count',NULL,12096,NULL,NULL,NULL,117,NULL,NULL,NULL),(36715,'NCBI Gene PubMed Count',NULL,12097,NULL,NULL,NULL,13,NULL,NULL,NULL),(36716,'NCBI Gene Summary',NULL,12098,NULL,'Members of the LY6 protein family (see SLURP1; MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al., 2010 [PubMed 19653121]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(36717,'NCBI Gene PubMed Count',NULL,12098,NULL,NULL,NULL,10,NULL,NULL,NULL),(36718,'NCBI Gene PubMed Count',NULL,12099,NULL,NULL,NULL,9,NULL,NULL,NULL),(36719,'NCBI Gene Summary',NULL,12100,NULL,'The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36720,'NCBI Gene PubMed Count',NULL,12100,NULL,NULL,NULL,32,NULL,NULL,NULL),(36721,'NCBI Gene Summary',NULL,12101,NULL,'The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(36722,'NCBI Gene PubMed Count',NULL,12101,NULL,NULL,NULL,128,NULL,NULL,NULL),(36723,'NCBI Gene Summary',NULL,12102,NULL,'This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36724,'NCBI Gene PubMed Count',NULL,12102,NULL,NULL,NULL,5,NULL,NULL,NULL),(36725,'NCBI Gene Summary',NULL,12103,NULL,'This gene is closely related to several other genes clustered on chromosome X. These genes may be overexpressed in tumors. Multiple alternatively spliced variants encoding the same protein have been identified. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(36726,'NCBI Gene PubMed Count',NULL,12103,NULL,NULL,NULL,23,NULL,NULL,NULL),(36727,'NCBI Gene Summary',NULL,12104,NULL,'This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36728,'NCBI Gene PubMed Count',NULL,12104,NULL,NULL,NULL,67,NULL,NULL,NULL),(36729,'NCBI Gene Summary',NULL,12105,NULL,'This gene is a member of the MAGEC gene family. The members of this family are not expressed in normal tissues, except for testis, and are expressed in tumors of various histological types. The MAGEC genes are clustered on chromosome Xq26-q27. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36730,'NCBI Gene PubMed Count',NULL,12105,NULL,NULL,NULL,4,NULL,NULL,NULL),(36731,'NCBI Gene Summary',NULL,12106,NULL,'This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. At least four variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36732,'NCBI Gene PubMed Count',NULL,12106,NULL,NULL,NULL,56,NULL,NULL,NULL),(36733,'NCBI Gene Summary',NULL,12107,NULL,'This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36734,'NCBI Gene PubMed Count',NULL,12107,NULL,NULL,NULL,18,NULL,NULL,NULL),(36735,'NCBI Gene PubMed Count',NULL,12108,NULL,NULL,NULL,11,NULL,NULL,NULL),(36736,'NCBI Gene Summary',NULL,12109,NULL,'The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36737,'NCBI Gene PubMed Count',NULL,12109,NULL,NULL,NULL,224,NULL,NULL,NULL),(36738,'NCBI Gene Summary',NULL,12110,NULL,'MARCH11 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). These enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their intracellular transport. March11 appears to have a role in ubiquitin-mediated protein sorting in the trans-Golgi network (TGN)-multivesicular body (MVB) transport pathway (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(36739,'NCBI Gene PubMed Count',NULL,12110,NULL,NULL,NULL,4,NULL,NULL,NULL),(36740,'NCBI Gene Summary',NULL,12111,NULL,'This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36741,'NCBI Gene PubMed Count',NULL,12111,NULL,NULL,NULL,52,NULL,NULL,NULL),(36742,'NCBI Gene Summary',NULL,12112,NULL,'This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(36743,'NCBI Gene PubMed Count',NULL,12112,NULL,NULL,NULL,48,NULL,NULL,NULL),(36744,'NCBI Gene Summary',NULL,12113,NULL,'This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36745,'NCBI Gene PubMed Count',NULL,12113,NULL,NULL,NULL,13,NULL,NULL,NULL),(36746,'NCBI Gene Summary',NULL,12114,NULL,'This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(36747,'NCBI Gene PubMed Count',NULL,12114,NULL,NULL,NULL,76,NULL,NULL,NULL),(36748,'NCBI Gene PubMed Count',NULL,12115,NULL,NULL,NULL,7,NULL,NULL,NULL),(36749,'NCBI Gene Summary',NULL,12116,NULL,'SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(36750,'NCBI Gene PubMed Count',NULL,12116,NULL,NULL,NULL,11,NULL,NULL,NULL),(36751,'NCBI Gene PubMed Count',NULL,12117,NULL,NULL,NULL,14,NULL,NULL,NULL),(36752,'NCBI Gene Summary',NULL,12118,NULL,'Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(36753,'NCBI Gene PubMed Count',NULL,12118,NULL,NULL,NULL,46,NULL,NULL,NULL),(36754,'NCBI Gene Summary',NULL,12119,NULL,'This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(36755,'NCBI Gene PubMed Count',NULL,12119,NULL,NULL,NULL,25,NULL,NULL,NULL),(36756,'NCBI Gene PubMed Count',NULL,12120,NULL,NULL,NULL,6,NULL,NULL,NULL),(36757,'NCBI Gene Summary',NULL,12121,NULL,'Members of the lipocalin family, such as LCN9, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(36758,'NCBI Gene PubMed Count',NULL,12121,NULL,NULL,NULL,2,NULL,NULL,NULL),(36759,'NCBI Gene Summary',NULL,12122,NULL,'This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(36760,'NCBI Gene PubMed Count',NULL,12122,NULL,NULL,NULL,383,NULL,NULL,NULL),(36761,'NCBI Gene Summary',NULL,12123,NULL,'The ocular lens is a tissue of epithelial origin and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the growth and maintenance of the lens through mitosis, protein synthesis, and active transport of ions and metabolites across the lens capsule. Lens epithelial protein is expressed exclusively in lens epithelial cells and may play a role in cell differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36762,'NCBI Gene PubMed Count',NULL,12123,NULL,NULL,NULL,8,NULL,NULL,NULL),(36763,'NCBI Gene Summary',NULL,12124,NULL,'This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more centromeric gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36764,'NCBI Gene PubMed Count',NULL,12124,NULL,NULL,NULL,5,NULL,NULL,NULL),(36765,'NCBI Gene PubMed Count',NULL,12125,NULL,NULL,NULL,5,NULL,NULL,NULL),(36766,'NCBI Gene Summary',NULL,12126,NULL,'This gene encodes a highly sialylated glycoprotein that functions in antigen-specific activation of T cells, and is found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It contains a mucin-like extracellular domain, a transmembrane region and a carboxy-terminal intracellular region. The extracellular domain has a high proportion of serine and threonine residues, allowing extensive O-glycosylation, and has one potential N-glycosylation site, while the carboxy-terminal region has potential phosphorylation sites that may mediate transduction of activation signals. Different glycoforms of this protein have been described. In stimulated immune cells, proteolytic cleavage of the extracellular domain occurs in some cell types, releasing a soluble extracellular fragment. Defects in expression of this gene are associated with Wiskott-Aldrich syndrome. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(36767,'NCBI Gene PubMed Count',NULL,12126,NULL,NULL,NULL,74,NULL,NULL,NULL),(36768,'NCBI Gene PubMed Count',NULL,12127,NULL,NULL,NULL,37,NULL,NULL,NULL),(36769,'NCBI Gene Summary',NULL,12128,NULL,'This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(36770,'NCBI Gene PubMed Count',NULL,12128,NULL,NULL,NULL,21,NULL,NULL,NULL),(36771,'NCBI Gene PubMed Count',NULL,12129,NULL,NULL,NULL,12,NULL,NULL,NULL),(36772,'NCBI Gene Summary',NULL,12130,NULL,'This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36773,'NCBI Gene PubMed Count',NULL,12130,NULL,NULL,NULL,59,NULL,NULL,NULL),(36774,'NCBI Gene PubMed Count',NULL,12131,NULL,NULL,NULL,19,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (36775,'NCBI Gene Summary',NULL,12132,NULL,'This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(36776,'NCBI Gene PubMed Count',NULL,12132,NULL,NULL,NULL,37,NULL,NULL,NULL),(36777,'NCBI Gene PubMed Count',NULL,12133,NULL,NULL,NULL,3,NULL,NULL,NULL),(36778,'NCBI Gene Summary',NULL,12134,NULL,'Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget\'s disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(36779,'NCBI Gene PubMed Count',NULL,12134,NULL,NULL,NULL,66,NULL,NULL,NULL),(36780,'NCBI Gene Summary',NULL,12135,NULL,'This gene encodes an immunoglobulin-like cell surface protein that is expressed predominantly on plasmacytoid dendritic cells (PDCs) and modulates the function of these cells in the immune response. Expression of this gene is downregulated by interleukin 3 (IL3). This gene is one of a cluster of highly related genes located at chromosomal region 19q13.4. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(36781,'NCBI Gene PubMed Count',NULL,12135,NULL,NULL,NULL,18,NULL,NULL,NULL),(36782,'NCBI Gene PubMed Count',NULL,12136,NULL,NULL,NULL,12,NULL,NULL,NULL),(36783,'NCBI Gene PubMed Count',NULL,12137,NULL,NULL,NULL,73,NULL,NULL,NULL),(36784,'NCBI Gene Summary',NULL,12138,NULL,'The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(36785,'NCBI Gene PubMed Count',NULL,12138,NULL,NULL,NULL,50,NULL,NULL,NULL),(36786,'NCBI Gene PubMed Count',NULL,12139,NULL,NULL,NULL,27,NULL,NULL,NULL),(36787,'NCBI Gene Summary',NULL,12140,NULL,'This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(36788,'NCBI Gene PubMed Count',NULL,12140,NULL,NULL,NULL,6,NULL,NULL,NULL),(36789,'NCBI Gene Summary',NULL,12141,NULL,'This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(36790,'NCBI Gene PubMed Count',NULL,12141,NULL,NULL,NULL,34,NULL,NULL,NULL),(36791,'NCBI Gene Summary',NULL,12142,NULL,'This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3\'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(36792,'NCBI Gene PubMed Count',NULL,12142,NULL,NULL,NULL,30,NULL,NULL,NULL),(36793,'NCBI Gene Summary',NULL,12143,NULL,'The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and therefore aids in DNA replication. This protein is required for the G1/S phase transition of the cell cycle. In addition, the encoded protein binds to trimethylated histone H3 in heterochromatin and recruits the ORC and lysine methyltransferases, which help maintain the repressive heterochromatic state. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(36794,'NCBI Gene PubMed Count',NULL,12143,NULL,NULL,NULL,18,NULL,NULL,NULL),(36795,'NCBI Gene Summary',NULL,12144,NULL,'The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(36796,'NCBI Gene PubMed Count',NULL,12144,NULL,NULL,NULL,43,NULL,NULL,NULL),(36797,'NCBI Gene PubMed Count',NULL,12145,NULL,NULL,NULL,10,NULL,NULL,NULL),(36798,'NCBI Gene PubMed Count',NULL,12146,NULL,NULL,NULL,3,NULL,NULL,NULL),(36799,'NCBI Gene Summary',NULL,12147,NULL,'This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(36800,'NCBI Gene PubMed Count',NULL,12147,NULL,NULL,NULL,12,NULL,NULL,NULL),(36801,'NCBI Gene PubMed Count',NULL,12148,NULL,NULL,NULL,6,NULL,NULL,NULL),(36802,'NCBI Gene PubMed Count',NULL,12149,NULL,NULL,NULL,7,NULL,NULL,NULL),(36803,'NCBI Gene Summary',NULL,12150,NULL,'The protein encoded by this gene belongs to the mitochondrial leucine/tyrosine/arginine motif family of proteins. Proteins of this family are short polypeptides that contain a leucine/tyrosine/arginine motif near the N-terminus. This gene is widely expressed with high levels in omental adipose tissue of obese individuals. In adipose tissue, the protein is localized to the nucleus where it promotes preadipocyte proliferation and lowers the rate of apoptosis to regulate adipose tissue homeostasis. Overexpression of this gene in adipocytes causes abnormal mitochondrial morphology and mitochondrial dysfunction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(36804,'NCBI Gene PubMed Count',NULL,12150,NULL,NULL,NULL,11,NULL,NULL,NULL),(36805,'NCBI Gene PubMed Count',NULL,12151,NULL,NULL,NULL,14,NULL,NULL,NULL),(36806,'NCBI Gene PubMed Count',NULL,12152,NULL,NULL,NULL,6,NULL,NULL,NULL),(36807,'NCBI Gene PubMed Count',NULL,12153,NULL,NULL,NULL,6,NULL,NULL,NULL),(36808,'NCBI Gene Summary',NULL,12154,NULL,'Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. There are alternatively spliced transcript variants described for this gene but the full length nature is not known yet. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36809,'NCBI Gene PubMed Count',NULL,12154,NULL,NULL,NULL,13,NULL,NULL,NULL),(36810,'NCBI Gene Summary',NULL,12155,NULL,'This gene is a retrotransposed gene, compared to MT1H (GeneID:4496). This retrogene is transcribed. It retains a full-length CDS, and is assumed to be translated. Compared to the MT1H product, this protein product differs at three internal amino acids, two of which are at metal-binding sites. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(36811,'NCBI Gene PubMed Count',NULL,12155,NULL,NULL,NULL,2,NULL,NULL,NULL),(36812,'NCBI Gene Summary',NULL,12156,NULL,'This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(36813,'NCBI Gene PubMed Count',NULL,12156,NULL,NULL,NULL,14,NULL,NULL,NULL),(36814,'NCBI Gene Summary',NULL,12157,NULL,'This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(36815,'NCBI Gene PubMed Count',NULL,12157,NULL,NULL,NULL,20,NULL,NULL,NULL),(36816,'NCBI Gene Summary',NULL,12158,NULL,'This gene encodes a ubiquitously expressed magnesium cation transporter protein that localizes to the cell membrane. This protein also associates with N-oligosaccharyl transferase and therefore may have a role in N-glycosylation. Mutations in this gene cause a form of X-linked intellectual disability (XLID). This gene may have multiple in-frame translation initiation sites, one of which would encode a shorter protein with an N-terminus containing a signal peptide at amino acids 1-29. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(36817,'NCBI Gene PubMed Count',NULL,12158,NULL,NULL,NULL,25,NULL,NULL,NULL),(36818,'NCBI Gene Summary',NULL,12159,NULL,'MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(36819,'NCBI Gene PubMed Count',NULL,12159,NULL,NULL,NULL,118,NULL,NULL,NULL),(36820,'NCBI Gene Summary',NULL,12160,NULL,'The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(36821,'NCBI Gene PubMed Count',NULL,12160,NULL,NULL,NULL,64,NULL,NULL,NULL),(36822,'NCBI Gene Summary',NULL,12161,NULL,'This intronless gene encodes a member of the MAGE superfamily. It is ubiquitously expressed in normal tissues and in tumor cells. This gene includes a microsatellite repeat in the coding region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36823,'NCBI Gene PubMed Count',NULL,12161,NULL,NULL,NULL,9,NULL,NULL,NULL),(36824,'NCBI Gene Summary',NULL,12162,NULL,'The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36825,'NCBI Gene PubMed Count',NULL,12162,NULL,NULL,NULL,51,NULL,NULL,NULL),(36826,'NCBI Gene Summary',NULL,12163,NULL,'The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36827,'NCBI Gene PubMed Count',NULL,12163,NULL,NULL,NULL,55,NULL,NULL,NULL),(36828,'NCBI Gene Summary',NULL,12164,NULL,'This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(36829,'NCBI Gene PubMed Count',NULL,12164,NULL,NULL,NULL,16,NULL,NULL,NULL),(36830,'NCBI Gene Summary',NULL,12165,NULL,'This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36831,'NCBI Gene PubMed Count',NULL,12165,NULL,NULL,NULL,80,NULL,NULL,NULL),(36832,'NCBI Gene Summary',NULL,12166,NULL,'Most MS4A genes, including MS4A10, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(36833,'NCBI Gene PubMed Count',NULL,12166,NULL,NULL,NULL,4,NULL,NULL,NULL),(36834,'NCBI Gene PubMed Count',NULL,12167,NULL,NULL,NULL,13,NULL,NULL,NULL),(36835,'NCBI Gene PubMed Count',NULL,12168,NULL,NULL,NULL,9,NULL,NULL,NULL),(36836,'NCBI Gene Summary',NULL,12169,NULL,'The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36837,'NCBI Gene PubMed Count',NULL,12169,NULL,NULL,NULL,10,NULL,NULL,NULL),(36838,'NCBI Gene Summary',NULL,12170,NULL,'This gene encodes a member of the G protein-coupled receptor family, as well as the EDG family of proteins. This protein functions as a cellular receptor for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This receptor couples predominantly to G(q/11) alpha proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36839,'NCBI Gene PubMed Count',NULL,12170,NULL,NULL,NULL,48,NULL,NULL,NULL),(36840,'NCBI Gene Summary',NULL,12171,NULL,'This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(36841,'NCBI Gene PubMed Count',NULL,12171,NULL,NULL,NULL,13,NULL,NULL,NULL),(36842,'NCBI Gene PubMed Count',NULL,12172,NULL,NULL,NULL,4,NULL,NULL,NULL),(36843,'NCBI Gene Summary',NULL,12173,NULL,'Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(36844,'NCBI Gene PubMed Count',NULL,12173,NULL,NULL,NULL,28,NULL,NULL,NULL),(36845,'NCBI Gene Summary',NULL,12174,NULL,'This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(36846,'NCBI Gene PubMed Count',NULL,12174,NULL,NULL,NULL,250,NULL,NULL,NULL),(36847,'NCBI Gene Summary',NULL,12175,NULL,'This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(36848,'NCBI Gene PubMed Count',NULL,12175,NULL,NULL,NULL,34,NULL,NULL,NULL),(36849,'NCBI Gene PubMed Count',NULL,12176,NULL,NULL,NULL,23,NULL,NULL,NULL),(36850,'NCBI Gene PubMed Count',NULL,12177,NULL,NULL,NULL,26,NULL,NULL,NULL),(36851,'NCBI Gene Summary',NULL,12178,NULL,'The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(36852,'NCBI Gene PubMed Count',NULL,12178,NULL,NULL,NULL,23,NULL,NULL,NULL),(36853,'NCBI Gene PubMed Count',NULL,12179,NULL,NULL,NULL,27,NULL,NULL,NULL),(36854,'NCBI Gene Summary',NULL,12180,NULL,'A bi-cistronic transcript encodes the products of both the myotrophin and leucine zipper protein 6 genes, which are located on chromosome 7. A cryptic ORF at the 3\' end of the myotrophin transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36855,'NCBI Gene PubMed Count',NULL,12180,NULL,NULL,NULL,2,NULL,NULL,NULL),(36856,'NCBI Gene Summary',NULL,12181,NULL,'LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(36857,'NCBI Gene PubMed Count',NULL,12181,NULL,NULL,NULL,10,NULL,NULL,NULL),(36858,'NCBI Gene PubMed Count',NULL,12182,NULL,NULL,NULL,13,NULL,NULL,NULL),(36859,'NCBI Gene Summary',NULL,12183,NULL,'This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36860,'NCBI Gene PubMed Count',NULL,12183,NULL,NULL,NULL,48,NULL,NULL,NULL),(36861,'NCBI Gene Summary',NULL,12184,NULL,'This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(36862,'NCBI Gene PubMed Count',NULL,12184,NULL,NULL,NULL,183,NULL,NULL,NULL),(36863,'NCBI Gene PubMed Count',NULL,12185,NULL,NULL,NULL,11,NULL,NULL,NULL),(36864,'NCBI Gene PubMed Count',NULL,12186,NULL,NULL,NULL,6,NULL,NULL,NULL),(36865,'NCBI Gene PubMed Count',NULL,12187,NULL,NULL,NULL,6,NULL,NULL,NULL),(36866,'NCBI Gene Summary',NULL,12188,NULL,'This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding different proteins have been described.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(36867,'NCBI Gene PubMed Count',NULL,12188,NULL,NULL,NULL,33,NULL,NULL,NULL),(36868,'NCBI Gene Summary',NULL,12189,NULL,'This gene encodes a member of the galectin superfamily, a group of beta-galactoside-binding proteins with conserved carbohydrate recognition domains. The related mouse protein is a primary regulator of the early stages of adipose tissue development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(36869,'NCBI Gene PubMed Count',NULL,12189,NULL,NULL,NULL,8,NULL,NULL,NULL),(36870,'NCBI Gene PubMed Count',NULL,12190,NULL,NULL,NULL,8,NULL,NULL,NULL),(36871,'NCBI Gene Summary',NULL,12191,NULL,'This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(36872,'NCBI Gene PubMed Count',NULL,12191,NULL,NULL,NULL,34,NULL,NULL,NULL),(36873,'NCBI Gene Summary',NULL,12192,NULL,'Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36874,'NCBI Gene PubMed Count',NULL,12192,NULL,NULL,NULL,27,NULL,NULL,NULL),(36875,'NCBI Gene Summary',NULL,12193,NULL,'This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(36876,'NCBI Gene PubMed Count',NULL,12193,NULL,NULL,NULL,757,NULL,NULL,NULL),(36877,'NCBI Gene Summary',NULL,12194,NULL,'This gene encodes a transmembrane sialomucin and cell adhesion molecule that regulates the proliferation, adhesion and migration of hematopoietic progenitor cells. The encoded protein also interacts with the C-X-C chemokine receptor type 4 and may regulate muscle development. Elevated expression of this gene has been observed in human patients with Sezary syndrome, a type of blood cancer, and a mutation in this gene may be associated with impaired hearing. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(36878,'NCBI Gene PubMed Count',NULL,12194,NULL,NULL,NULL,33,NULL,NULL,NULL),(36879,'NCBI Gene Summary',NULL,12195,NULL,'The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(36880,'NCBI Gene PubMed Count',NULL,12195,NULL,NULL,NULL,20,NULL,NULL,NULL),(36881,'NCBI Gene Summary',NULL,12196,NULL,'This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(36882,'NCBI Gene PubMed Count',NULL,12196,NULL,NULL,NULL,149,NULL,NULL,NULL),(36883,'NCBI Gene PubMed Count',NULL,12197,NULL,NULL,NULL,5,NULL,NULL,NULL),(36884,'NCBI Gene PubMed Count',NULL,12198,NULL,NULL,NULL,32,NULL,NULL,NULL),(36885,'NCBI Gene PubMed Count',NULL,12199,NULL,NULL,NULL,24,NULL,NULL,NULL),(36886,'NCBI Gene Summary',NULL,12200,NULL,'This gene encodes a tumor suppressor protein that inhibits DNA synthesis and oncogenic transformation through association with the retinoblastoma 1 protein. The encoded protein also interacts with a complex of other cell cycle regulators to repress cell cycle-dependent gene expression in non-dividing cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(36887,'NCBI Gene PubMed Count',NULL,12200,NULL,NULL,NULL,30,NULL,NULL,NULL),(36888,'NCBI Gene Summary',NULL,12201,NULL,'There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36889,'NCBI Gene PubMed Count',NULL,12201,NULL,NULL,NULL,54,NULL,NULL,NULL),(36890,'NCBI Gene Summary',NULL,12202,NULL,'This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36891,'NCBI Gene PubMed Count',NULL,12202,NULL,NULL,NULL,58,NULL,NULL,NULL),(36892,'NCBI Gene Summary',NULL,12203,NULL,'This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(36893,'NCBI Gene PubMed Count',NULL,12203,NULL,NULL,NULL,8,NULL,NULL,NULL),(36894,'NCBI Gene PubMed Count',NULL,12204,NULL,NULL,NULL,7,NULL,NULL,NULL),(36895,'NCBI Gene Summary',NULL,12205,NULL,'The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Two transcript variants encoding the same protein have been identified for this gene [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36896,'NCBI Gene PubMed Count',NULL,12205,NULL,NULL,NULL,87,NULL,NULL,NULL),(36897,'NCBI Gene PubMed Count',NULL,12206,NULL,NULL,NULL,14,NULL,NULL,NULL),(36898,'NCBI Gene PubMed Count',NULL,12207,NULL,NULL,NULL,7,NULL,NULL,NULL),(36899,'NCBI Gene PubMed Count',NULL,12208,NULL,NULL,NULL,1,NULL,NULL,NULL),(36900,'NCBI Gene PubMed Count',NULL,12209,NULL,NULL,NULL,3,NULL,NULL,NULL),(36901,'NCBI Gene Summary',NULL,12210,NULL,'This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(36902,'NCBI Gene PubMed Count',NULL,12210,NULL,NULL,NULL,1,NULL,NULL,NULL),(36903,'NCBI Gene PubMed Count',NULL,12211,NULL,NULL,NULL,3,NULL,NULL,NULL),(36904,'NCBI Gene PubMed Count',NULL,12212,NULL,NULL,NULL,3,NULL,NULL,NULL),(36905,'NCBI Gene PubMed Count',NULL,12213,NULL,NULL,NULL,0,NULL,NULL,NULL),(36906,'NCBI Gene Summary',NULL,12214,NULL,'This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer\'s disease patients. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(36907,'NCBI Gene PubMed Count',NULL,12214,NULL,NULL,NULL,389,NULL,NULL,NULL),(36908,'NCBI Gene PubMed Count',NULL,12215,NULL,NULL,NULL,4,NULL,NULL,NULL),(36909,'NCBI Gene PubMed Count',NULL,12216,NULL,NULL,NULL,8,NULL,NULL,NULL),(36910,'NCBI Gene Summary',NULL,12217,NULL,'This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(36911,'NCBI Gene PubMed Count',NULL,12217,NULL,NULL,NULL,35,NULL,NULL,NULL),(36912,'NCBI Gene PubMed Count',NULL,12218,NULL,NULL,NULL,6,NULL,NULL,NULL),(36913,'NCBI Gene Summary',NULL,12219,NULL,'This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(36914,'NCBI Gene PubMed Count',NULL,12219,NULL,NULL,NULL,12,NULL,NULL,NULL),(36915,'NCBI Gene PubMed Count',NULL,12220,NULL,NULL,NULL,6,NULL,NULL,NULL),(36916,'NCBI Gene PubMed Count',NULL,12221,NULL,NULL,NULL,7,NULL,NULL,NULL),(36917,'NCBI Gene PubMed Count',NULL,12222,NULL,NULL,NULL,6,NULL,NULL,NULL),(36918,'NCBI Gene PubMed Count',NULL,12223,NULL,NULL,NULL,249,NULL,NULL,NULL),(36919,'NCBI Gene Summary',NULL,12224,NULL,'This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(36920,'NCBI Gene PubMed Count',NULL,12224,NULL,NULL,NULL,99,NULL,NULL,NULL),(36921,'NCBI Gene PubMed Count',NULL,12225,NULL,NULL,NULL,13,NULL,NULL,NULL),(36922,'NCBI Gene PubMed Count',NULL,12226,NULL,NULL,NULL,3,NULL,NULL,NULL),(36923,'NCBI Gene Summary',NULL,12227,NULL,'This gene encodes a cell surface adhesion molecule that belongs to a family of adhesion/homing receptors. The encoded protein contains a C-type lectin-like domain, a calcium-binding epidermal growth factor-like domain, and two short complement-like repeats. The gene product is required for binding and subsequent rolling of leucocytes on endothelial cells, facilitating their migration into secondary lymphoid organs and inflammation sites. Single-nucleotide polymorphisms in this gene have been associated with various diseases including immunoglobulin A nephropathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(36924,'NCBI Gene PubMed Count',NULL,12227,NULL,NULL,NULL,193,NULL,NULL,NULL),(36925,'NCBI Gene PubMed Count',NULL,12228,NULL,NULL,NULL,3,NULL,NULL,NULL),(36926,'NCBI Gene PubMed Count',NULL,12229,NULL,NULL,NULL,12,NULL,NULL,NULL),(36927,'NCBI Gene PubMed Count',NULL,12230,NULL,NULL,NULL,6,NULL,NULL,NULL),(36928,'NCBI Gene Summary',NULL,12231,NULL,'This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(36929,'NCBI Gene PubMed Count',NULL,12231,NULL,NULL,NULL,30,NULL,NULL,NULL),(36930,'NCBI Gene PubMed Count',NULL,12232,NULL,NULL,NULL,22,NULL,NULL,NULL),(36931,'NCBI Gene Summary',NULL,12233,NULL,'Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(36932,'NCBI Gene PubMed Count',NULL,12233,NULL,NULL,NULL,14,NULL,NULL,NULL),(36933,'NCBI Gene PubMed Count',NULL,12234,NULL,NULL,NULL,21,NULL,NULL,NULL),(36934,'NCBI Gene PubMed Count',NULL,12235,NULL,NULL,NULL,42,NULL,NULL,NULL),(36935,'NCBI Gene Summary',NULL,12236,NULL,'The protein encoded by this gene belongs to the MAP7 (microtubule-associated protein 7) family. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(36936,'NCBI Gene PubMed Count',NULL,12236,NULL,NULL,NULL,10,NULL,NULL,NULL),(36937,'NCBI Gene Summary',NULL,12237,NULL,'The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(36938,'NCBI Gene PubMed Count',NULL,12237,NULL,NULL,NULL,29,NULL,NULL,NULL),(36939,'NCBI Gene Summary',NULL,12238,NULL,'This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(36940,'NCBI Gene PubMed Count',NULL,12238,NULL,NULL,NULL,59,NULL,NULL,NULL),(36941,'NCBI Gene Summary',NULL,12239,NULL,'This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36942,'NCBI Gene PubMed Count',NULL,12239,NULL,NULL,NULL,51,NULL,NULL,NULL),(36943,'NCBI Gene PubMed Count',NULL,12240,NULL,NULL,NULL,1,NULL,NULL,NULL),(36944,'NCBI Gene Summary',NULL,12241,NULL,'This gene encodes a member of the rhodopsin class of G protein-coupled transmembrane receptors. This protein transmits extracellular signals from lysophosphatidic acid to cells through heterotrimeric G proteins and mediates numerous cellular processes. Many G protein receptors serve as targets for pharmaceutical drugs. Transcript variants of this gene have been described.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(36945,'NCBI Gene PubMed Count',NULL,12241,NULL,NULL,NULL,22,NULL,NULL,NULL),(36946,'NCBI Gene Summary',NULL,12242,NULL,'In human, peroxisomes function primarily to catalyze fatty acid beta-oxidation and, as a by-product, produce hydrogen peroxide and superoxide. The protein encoded by this gene is an ATP-dependent protease that likely plays a role in maintaining overall peroxisome homeostasis as well as proteolytically degrading peroxisomal proteins damaged by oxidation. The protein has an N-terminal Lon N substrate recognition domain, an ATPase domain, a proteolytic domain, and, in some isoforms, a C-terminal peroxisome targeting sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(36947,'NCBI Gene PubMed Count',NULL,12242,NULL,NULL,NULL,12,NULL,NULL,NULL),(36948,'NCBI Gene Summary',NULL,12243,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36949,'NCBI Gene PubMed Count',NULL,12243,NULL,NULL,NULL,6,NULL,NULL,NULL),(36950,'NCBI Gene PubMed Count',NULL,12244,NULL,NULL,NULL,5,NULL,NULL,NULL),(36951,'NCBI Gene PubMed Count',NULL,12245,NULL,NULL,NULL,7,NULL,NULL,NULL),(36952,'NCBI Gene PubMed Count',NULL,12246,NULL,NULL,NULL,7,NULL,NULL,NULL),(36953,'NCBI Gene PubMed Count',NULL,12247,NULL,NULL,NULL,6,NULL,NULL,NULL),(36954,'NCBI Gene PubMed Count',NULL,12248,NULL,NULL,NULL,3,NULL,NULL,NULL),(36955,'NCBI Gene Summary',NULL,12249,NULL,'This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(36956,'NCBI Gene PubMed Count',NULL,12249,NULL,NULL,NULL,17,NULL,NULL,NULL),(36957,'NCBI Gene PubMed Count',NULL,12250,NULL,NULL,NULL,7,NULL,NULL,NULL),(36958,'NCBI Gene Summary',NULL,12251,NULL,'The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(36959,'NCBI Gene PubMed Count',NULL,12251,NULL,NULL,NULL,13,NULL,NULL,NULL),(36960,'NCBI Gene Summary',NULL,12252,NULL,'Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36961,'NCBI Gene PubMed Count',NULL,12252,NULL,NULL,NULL,396,NULL,NULL,NULL),(36962,'NCBI Gene PubMed Count',NULL,12253,NULL,NULL,NULL,8,NULL,NULL,NULL),(36963,'NCBI Gene Summary',NULL,12254,NULL,'The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36964,'NCBI Gene PubMed Count',NULL,12254,NULL,NULL,NULL,74,NULL,NULL,NULL),(36965,'NCBI Gene PubMed Count',NULL,12255,NULL,NULL,NULL,6,NULL,NULL,NULL),(36966,'NCBI Gene PubMed Count',NULL,12256,NULL,NULL,NULL,30,NULL,NULL,NULL),(36967,'NCBI Gene Summary',NULL,12257,NULL,'This gene encodes a member of the C-type lysozyme/alpha-lactalbumin family. C-type lysozymes are bacteriolytic factors that play a role in host defense, whereas alpha-lactalbumins mediate lactose biosynthesis. The encoded protein contains catalytic residues characteristic of C-type lysozymes and may play a role in male reproduction. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(36968,'NCBI Gene PubMed Count',NULL,12257,NULL,NULL,NULL,11,NULL,NULL,NULL),(36969,'NCBI Gene Summary',NULL,12258,NULL,'This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(36970,'NCBI Gene PubMed Count',NULL,12258,NULL,NULL,NULL,26,NULL,NULL,NULL),(36971,'NCBI Gene PubMed Count',NULL,12259,NULL,NULL,NULL,7,NULL,NULL,NULL),(36972,'NCBI Gene Summary',NULL,12260,NULL,'This gene was originally thought to be a protein coding gene. However, the encoded protein sequence is highly similar to the C-terminal sequence of the tektin-4 protein, and the transcript sequences of this gene are highly similar to the TEKT4 pseudogenes, which are found on chromosomes 4, 21 and Y, respectively. Therefore, this gene is thought to be another pseudogene of the TEKT4 gene (GeneID:150483). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(36973,'NCBI Gene PubMed Count',NULL,12260,NULL,NULL,NULL,10,NULL,NULL,NULL),(36974,'NCBI Gene Summary',NULL,12261,NULL,'The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(36975,'NCBI Gene PubMed Count',NULL,12261,NULL,NULL,NULL,26,NULL,NULL,NULL),(36976,'NCBI Gene Summary',NULL,12262,NULL,'This gene is a MAGE-B subfamily member of the MAGE gene family. MAGE family member proteins direct the expression of tumor antigens recognized on a human melanoma by autologous cytolytic T lymphocytes. There are two known clusters of MAGE genes on chromosome X. The members of the MAGE-A subfamily are located in the Xq28 region, while the members of the MAGE-B subfamily are clustered in the Xp21 region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36977,'NCBI Gene PubMed Count',NULL,12262,NULL,NULL,NULL,7,NULL,NULL,NULL),(36978,'NCBI Gene PubMed Count',NULL,12263,NULL,NULL,NULL,1,NULL,NULL,NULL),(36979,'NCBI Gene Summary',NULL,12264,NULL,'The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36980,'NCBI Gene PubMed Count',NULL,12264,NULL,NULL,NULL,71,NULL,NULL,NULL),(36981,'NCBI Gene Summary',NULL,12265,NULL,'This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36982,'NCBI Gene PubMed Count',NULL,12265,NULL,NULL,NULL,79,NULL,NULL,NULL),(36983,'NCBI Gene Summary',NULL,12266,NULL,'This locus represents naturally occurring read-through transcription between the neighboring MAGEA10 (melanoma antigen family A, 10) and MAGEA5 (melanoma antigen family A, 5) genes on chromosome X. The read-through transcript is predicted to encode the downstream gene product. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(36984,'NCBI Gene PubMed Count',NULL,12266,NULL,NULL,NULL,4,NULL,NULL,NULL),(36985,'NCBI Gene Summary',NULL,12267,NULL,'This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(36986,'NCBI Gene PubMed Count',NULL,12267,NULL,NULL,NULL,13,NULL,NULL,NULL),(36987,'NCBI Gene Summary',NULL,12268,NULL,'This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36988,'NCBI Gene PubMed Count',NULL,12268,NULL,NULL,NULL,15,NULL,NULL,NULL),(36989,'NCBI Gene Summary',NULL,12269,NULL,'This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(36990,'NCBI Gene PubMed Count',NULL,12269,NULL,NULL,NULL,47,NULL,NULL,NULL),(36991,'NCBI Gene Summary',NULL,12270,NULL,'N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(36992,'NCBI Gene PubMed Count',NULL,12270,NULL,NULL,NULL,16,NULL,NULL,NULL),(36993,'NCBI Gene Summary',NULL,12271,NULL,'Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP\'s are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The encoded protein activates MMP2 by cleavage. This gene was once referred to as MT-MMP2, but was renamed as MT-MMP3 or MMP16. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(36994,'NCBI Gene PubMed Count',NULL,12271,NULL,NULL,NULL,58,NULL,NULL,NULL),(36995,'NCBI Gene Summary',NULL,12272,NULL,'Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP\'s are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(36996,'NCBI Gene PubMed Count',NULL,12272,NULL,NULL,NULL,38,NULL,NULL,NULL),(36997,'NCBI Gene Summary',NULL,12273,NULL,'This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(36998,'NCBI Gene PubMed Count',NULL,12273,NULL,NULL,NULL,11,NULL,NULL,NULL),(36999,'NCBI Gene PubMed Count',NULL,12274,NULL,NULL,NULL,10,NULL,NULL,NULL),(37000,'NCBI Gene PubMed Count',NULL,12275,NULL,NULL,NULL,35,NULL,NULL,NULL),(37001,'NCBI Gene Summary',NULL,12276,NULL,'The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(37002,'NCBI Gene PubMed Count',NULL,12276,NULL,NULL,NULL,9,NULL,NULL,NULL),(37003,'NCBI Gene Summary',NULL,12277,NULL,'This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37004,'NCBI Gene PubMed Count',NULL,12277,NULL,NULL,NULL,13,NULL,NULL,NULL),(37005,'NCBI Gene Summary',NULL,12278,NULL,'This gene encodes a member of family 1 glycosidases. Glycosidases are enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of family 1 have two conserved glutamic acid residues, which are required for enzymatic activity. The mouse ortholog of this protein has been characterized and has a domain structure of an N-terminal signal peptide, glycosidase domain, transmembrane domain, and a short cytoplasmic tail. It lacks one of the conserved glutamic acid residues important for catalysis, and its function remains to be determined (PMID: 12084582). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(37006,'NCBI Gene PubMed Count',NULL,12278,NULL,NULL,NULL,7,NULL,NULL,NULL),(37007,'NCBI Gene Summary',NULL,12279,NULL,'LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(37008,'NCBI Gene PubMed Count',NULL,12279,NULL,NULL,NULL,17,NULL,NULL,NULL),(37009,'NCBI Gene Summary',NULL,12280,NULL,'Members of the lipocalin family, such as LCN10, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(37010,'NCBI Gene PubMed Count',NULL,12280,NULL,NULL,NULL,4,NULL,NULL,NULL),(37011,'NCBI Gene PubMed Count',NULL,12281,NULL,NULL,NULL,13,NULL,NULL,NULL),(37012,'NCBI Gene PubMed Count',NULL,12282,NULL,NULL,NULL,8,NULL,NULL,NULL),(37013,'NCBI Gene Summary',NULL,12283,NULL,'This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereby conferring maximal enhancer activity. This transcription factor is involved in the Wnt signaling pathway, and it may function in hair cell differentiation and follicle morphogenesis. Mutations in this gene have been found in somatic sebaceous tumors. This gene has also been linked to other cancers, including androgen-independent prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(37014,'NCBI Gene PubMed Count',NULL,12283,NULL,NULL,NULL,186,NULL,NULL,NULL),(37015,'NCBI Gene Summary',NULL,12284,NULL,'The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The expression of this gene is restricted to small intestine, colon, and rectum, and it is underexpressed in colorectal cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37016,'NCBI Gene PubMed Count',NULL,12284,NULL,NULL,NULL,37,NULL,NULL,NULL),(37017,'NCBI Gene Summary',NULL,12285,NULL,'LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(37018,'NCBI Gene PubMed Count',NULL,12285,NULL,NULL,NULL,28,NULL,NULL,NULL),(37019,'NCBI Gene PubMed Count',NULL,12286,NULL,NULL,NULL,65,NULL,NULL,NULL),(37020,'NCBI Gene PubMed Count',NULL,12287,NULL,NULL,NULL,3,NULL,NULL,NULL),(37021,'NCBI Gene Summary',NULL,12288,NULL,'This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(37022,'NCBI Gene PubMed Count',NULL,12288,NULL,NULL,NULL,13,NULL,NULL,NULL),(37023,'NCBI Gene Summary',NULL,12289,NULL,'The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(37024,'NCBI Gene PubMed Count',NULL,12289,NULL,NULL,NULL,41,NULL,NULL,NULL),(37025,'NCBI Gene Summary',NULL,12290,NULL,'This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37026,'NCBI Gene PubMed Count',NULL,12290,NULL,NULL,NULL,22,NULL,NULL,NULL),(37027,'NCBI Gene Summary',NULL,12291,NULL,'The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(37028,'NCBI Gene PubMed Count',NULL,12291,NULL,NULL,NULL,25,NULL,NULL,NULL),(37029,'NCBI Gene Summary',NULL,12292,NULL,'The protein encoded by this gene is a pleiotropic cytokine with roles in several different systems. It is involved in the induction of hematopoietic differentiation in normal and myeloid leukemia cells, induction of neuronal cell differentiation, regulator of mesenchymal to epithelial conversion during kidney development, and may also have a role in immune tolerance at the maternal-fetal interface. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(37030,'NCBI Gene PubMed Count',NULL,12292,NULL,NULL,NULL,196,NULL,NULL,NULL),(37031,'NCBI Gene Summary',NULL,12293,NULL,'This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(37032,'NCBI Gene PubMed Count',NULL,12293,NULL,NULL,NULL,20,NULL,NULL,NULL),(37033,'NCBI Gene Summary',NULL,12294,NULL,'This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(37034,'NCBI Gene PubMed Count',NULL,12294,NULL,NULL,NULL,55,NULL,NULL,NULL),(37035,'NCBI Gene Summary',NULL,12295,NULL,'The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(37036,'NCBI Gene PubMed Count',NULL,12295,NULL,NULL,NULL,41,NULL,NULL,NULL),(37037,'NCBI Gene PubMed Count',NULL,12296,NULL,NULL,NULL,9,NULL,NULL,NULL),(37038,'NCBI Gene PubMed Count',NULL,12297,NULL,NULL,NULL,7,NULL,NULL,NULL),(37039,'NCBI Gene Summary',NULL,12298,NULL,'This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(37040,'NCBI Gene PubMed Count',NULL,12298,NULL,NULL,NULL,14,NULL,NULL,NULL),(37041,'NCBI Gene PubMed Count',NULL,12299,NULL,NULL,NULL,7,NULL,NULL,NULL),(37042,'NCBI Gene Summary',NULL,12300,NULL,'The product encoded by this gene is preferentially expressed in hematopoietic cells and belongs to the paxillin protein family. Similar to other members of this focal-adhesion-associated adaptor-protein family, it has four leucine-rich LD-motifs in the N-terminus and four LIM domains in the C-terminus. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by, tyrosine kinase activity. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(37043,'NCBI Gene PubMed Count',NULL,12300,NULL,NULL,NULL,33,NULL,NULL,NULL),(37044,'NCBI Gene Summary',NULL,12301,NULL,'The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(37045,'NCBI Gene PubMed Count',NULL,12301,NULL,NULL,NULL,28,NULL,NULL,NULL),(37046,'NCBI Gene Summary',NULL,12302,NULL,'This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(37047,'NCBI Gene PubMed Count',NULL,12302,NULL,NULL,NULL,36,NULL,NULL,NULL),(37048,'NCBI Gene PubMed Count',NULL,12303,NULL,NULL,NULL,29,NULL,NULL,NULL),(37049,'NCBI Gene PubMed Count',NULL,12304,NULL,NULL,NULL,3,NULL,NULL,NULL),(37050,'NCBI Gene PubMed Count',NULL,12305,NULL,NULL,NULL,11,NULL,NULL,NULL),(37051,'NCBI Gene Summary',NULL,12306,NULL,'This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(37052,'NCBI Gene PubMed Count',NULL,12306,NULL,NULL,NULL,9,NULL,NULL,NULL),(37053,'NCBI Gene PubMed Count',NULL,12307,NULL,NULL,NULL,7,NULL,NULL,NULL),(37054,'NCBI Gene PubMed Count',NULL,12308,NULL,NULL,NULL,6,NULL,NULL,NULL),(37055,'NCBI Gene Summary',NULL,12309,NULL,'This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37056,'NCBI Gene PubMed Count',NULL,12309,NULL,NULL,NULL,62,NULL,NULL,NULL),(37057,'NCBI Gene Summary',NULL,12310,NULL,'The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(37058,'NCBI Gene PubMed Count',NULL,12310,NULL,NULL,NULL,19,NULL,NULL,NULL),(37059,'NCBI Gene Summary',NULL,12311,NULL,'This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(37060,'NCBI Gene PubMed Count',NULL,12311,NULL,NULL,NULL,28,NULL,NULL,NULL),(37061,'NCBI Gene Summary',NULL,12312,NULL,'The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37062,'NCBI Gene PubMed Count',NULL,12312,NULL,NULL,NULL,94,NULL,NULL,NULL),(37063,'NCBI Gene Summary',NULL,12313,NULL,'The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(37064,'NCBI Gene PubMed Count',NULL,12313,NULL,NULL,NULL,19,NULL,NULL,NULL),(37065,'NCBI Gene PubMed Count',NULL,12314,NULL,NULL,NULL,10,NULL,NULL,NULL),(37066,'NCBI Gene PubMed Count',NULL,12315,NULL,NULL,NULL,6,NULL,NULL,NULL),(37067,'NCBI Gene PubMed Count',NULL,12316,NULL,NULL,NULL,6,NULL,NULL,NULL),(37068,'NCBI Gene Summary',NULL,12317,NULL,'This gene encodes a leucine-zipper protein that was first defined as a cancer testis antigens. The encoded protein is an RNA binding protein that interacts with the mRNA export receptor nuclear RNA export factor 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(37069,'NCBI Gene PubMed Count',NULL,12317,NULL,NULL,NULL,7,NULL,NULL,NULL),(37070,'NCBI Gene PubMed Count',NULL,12318,NULL,NULL,NULL,12,NULL,NULL,NULL),(37071,'NCBI Gene PubMed Count',NULL,12319,NULL,NULL,NULL,10,NULL,NULL,NULL),(37072,'NCBI Gene PubMed Count',NULL,12320,NULL,NULL,NULL,3,NULL,NULL,NULL),(37073,'NCBI Gene Summary',NULL,12321,NULL,'LY6G6D belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(37074,'NCBI Gene PubMed Count',NULL,12321,NULL,NULL,NULL,8,NULL,NULL,NULL),(37075,'NCBI Gene PubMed Count',NULL,12322,NULL,NULL,NULL,8,NULL,NULL,NULL),(37076,'NCBI Gene PubMed Count',NULL,12323,NULL,NULL,NULL,26,NULL,NULL,NULL),(37077,'NCBI Gene Summary',NULL,12324,NULL,'This gene represents a basic helix-loop-helix transcription factor. The encoded protein may play roles in blood vessel maturation and hematopoeisis. A translocation between this locus and the T cell receptor beta locus (GeneID 6957) on chromosome 7 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(37078,'NCBI Gene PubMed Count',NULL,12324,NULL,NULL,NULL,25,NULL,NULL,NULL),(37079,'NCBI Gene Summary',NULL,12325,NULL,'This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(37080,'NCBI Gene PubMed Count',NULL,12325,NULL,NULL,NULL,48,NULL,NULL,NULL),(37081,'NCBI Gene PubMed Count',NULL,12326,NULL,NULL,NULL,6,NULL,NULL,NULL),(37082,'NCBI Gene PubMed Count',NULL,12327,NULL,NULL,NULL,16,NULL,NULL,NULL),(37083,'NCBI Gene PubMed Count',NULL,12328,NULL,NULL,NULL,28,NULL,NULL,NULL),(37084,'NCBI Gene Summary',NULL,12329,NULL,'This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(37085,'NCBI Gene PubMed Count',NULL,12329,NULL,NULL,NULL,115,NULL,NULL,NULL),(37086,'NCBI Gene Summary',NULL,12330,NULL,'This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(37087,'NCBI Gene PubMed Count',NULL,12330,NULL,NULL,NULL,18,NULL,NULL,NULL),(37088,'NCBI Gene Summary',NULL,12331,NULL,'The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(37089,'NCBI Gene PubMed Count',NULL,12331,NULL,NULL,NULL,22,NULL,NULL,NULL),(37090,'NCBI Gene Summary',NULL,12332,NULL,'The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(37091,'NCBI Gene PubMed Count',NULL,12332,NULL,NULL,NULL,199,NULL,NULL,NULL),(37092,'NCBI Gene Summary',NULL,12333,NULL,'NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans \'never in mitosis A\' gene, which controls initiation of mitosis.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(37093,'NCBI Gene PubMed Count',NULL,12333,NULL,NULL,NULL,29,NULL,NULL,NULL),(37094,'NCBI Gene Summary',NULL,12334,NULL,'The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37095,'NCBI Gene PubMed Count',NULL,12334,NULL,NULL,NULL,145,NULL,NULL,NULL),(37096,'NCBI Gene PubMed Count',NULL,12335,NULL,NULL,NULL,10,NULL,NULL,NULL),(37097,'NCBI Gene PubMed Count',NULL,12336,NULL,NULL,NULL,28,NULL,NULL,NULL),(37098,'NCBI Gene Summary',NULL,12337,NULL,'This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(37099,'NCBI Gene PubMed Count',NULL,12337,NULL,NULL,NULL,36,NULL,NULL,NULL),(37100,'NCBI Gene Summary',NULL,12338,NULL,'This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(37101,'NCBI Gene PubMed Count',NULL,12338,NULL,NULL,NULL,29,NULL,NULL,NULL),(37102,'NCBI Gene PubMed Count',NULL,12339,NULL,NULL,NULL,11,NULL,NULL,NULL),(37103,'NCBI Gene PubMed Count',NULL,12340,NULL,NULL,NULL,22,NULL,NULL,NULL),(37104,'NCBI Gene Summary',NULL,12341,NULL,'This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37105,'NCBI Gene PubMed Count',NULL,12341,NULL,NULL,NULL,26,NULL,NULL,NULL),(37106,'NCBI Gene PubMed Count',NULL,12342,NULL,NULL,NULL,6,NULL,NULL,NULL),(37107,'NCBI Gene Summary',NULL,12343,NULL,'This gene encodes a protein which interacts with the N-terminus of the stem-loop binding protein (SLBP) and the 3\' end of histone mRNA. This interaction facilitates the activation of histone mRNA translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(37108,'NCBI Gene PubMed Count',NULL,12343,NULL,NULL,NULL,14,NULL,NULL,NULL),(37109,'NCBI Gene Summary',NULL,12344,NULL,'This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species (TANGO1-like or TALI). Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(37110,'NCBI Gene PubMed Count',NULL,12344,NULL,NULL,NULL,40,NULL,NULL,NULL),(37111,'NCBI Gene Summary',NULL,12345,NULL,'This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regulated 9). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(37112,'NCBI Gene PubMed Count',NULL,12345,NULL,NULL,NULL,37,NULL,NULL,NULL),(37113,'NCBI Gene Summary',NULL,12346,NULL,'This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality control is associated with cancer and degenerative diseases. The encoded protein mediates accumulation of the lysosome-like mitochondrial organelles through interaction with B cell lymphoma 2 interacting protein 3 and B cell lymphoma 2 interacting protein 3 like at the outer mitochondrial membrane, which allows translocation of lysosomal proteins to the mitochondrial matrix from the cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(37114,'NCBI Gene PubMed Count',NULL,12346,NULL,NULL,NULL,12,NULL,NULL,NULL),(37115,'NCBI Gene PubMed Count',NULL,12347,NULL,NULL,NULL,6,NULL,NULL,NULL),(37116,'NCBI Gene Summary',NULL,12348,NULL,'This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(37117,'NCBI Gene PubMed Count',NULL,12348,NULL,NULL,NULL,12,NULL,NULL,NULL),(37118,'NCBI Gene Summary',NULL,12349,NULL,'This gene encodes a small peptide that shares structural similarity to the small peptides sarcolipin and phospholamban, which are key regulators of sarcoplasmic reticulum Ca(2+)-ATPases (SERCAs). This protein is thought to have a similar function to these peptides, regulating Ca(2+) reuptake in the sarcoplasmic reticulum by inhibiting the Ca(2+) pump activity of SERCAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(37119,'NCBI Gene PubMed Count',NULL,12349,NULL,NULL,NULL,3,NULL,NULL,NULL),(37120,'NCBI Gene Summary',NULL,12350,NULL,'MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. The expression of variant 1 is suppressed in many tumor cell lines, suggesting that may be involved in carcinogenesis. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(37121,'NCBI Gene PubMed Count',NULL,12350,NULL,NULL,NULL,180,NULL,NULL,NULL),(37122,'NCBI Gene PubMed Count',NULL,12351,NULL,NULL,NULL,20,NULL,NULL,NULL),(37123,'NCBI Gene Summary',NULL,12352,NULL,'This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37124,'NCBI Gene PubMed Count',NULL,12352,NULL,NULL,NULL,17,NULL,NULL,NULL),(37125,'NCBI Gene Summary',NULL,12353,NULL,'This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(37126,'NCBI Gene PubMed Count',NULL,12353,NULL,NULL,NULL,42,NULL,NULL,NULL),(37127,'NCBI Gene PubMed Count',NULL,12354,NULL,NULL,NULL,16,NULL,NULL,NULL),(37128,'NCBI Gene Summary',NULL,12355,NULL,'This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein has tandem LIM domains as well as a DNA-binding homeodomain. The protein functions as a transcription factor involved in embryogenesis and head development and is highly expressed in neural crest derived mesenchyme cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(37129,'NCBI Gene PubMed Count',NULL,12355,NULL,NULL,NULL,25,NULL,NULL,NULL),(37130,'NCBI Gene Summary',NULL,12356,NULL,'This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(37131,'NCBI Gene PubMed Count',NULL,12356,NULL,NULL,NULL,25,NULL,NULL,NULL),(37132,'NCBI Gene Summary',NULL,12357,NULL,'The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione.  Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37133,'NCBI Gene PubMed Count',NULL,12357,NULL,NULL,NULL,126,NULL,NULL,NULL),(37134,'NCBI Gene Summary',NULL,12358,NULL,'The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(37135,'NCBI Gene PubMed Count',NULL,12358,NULL,NULL,NULL,17,NULL,NULL,NULL),(37136,'NCBI Gene Summary',NULL,12359,NULL,'The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37137,'NCBI Gene PubMed Count',NULL,12359,NULL,NULL,NULL,121,NULL,NULL,NULL),(37138,'NCBI Gene Summary',NULL,12360,NULL,'This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37139,'NCBI Gene PubMed Count',NULL,12360,NULL,NULL,NULL,43,NULL,NULL,NULL),(37140,'NCBI Gene PubMed Count',NULL,12361,NULL,NULL,NULL,9,NULL,NULL,NULL),(37141,'NCBI Gene PubMed Count',NULL,12362,NULL,NULL,NULL,10,NULL,NULL,NULL),(37142,'NCBI Gene PubMed Count',NULL,12363,NULL,NULL,NULL,18,NULL,NULL,NULL),(37143,'NCBI Gene PubMed Count',NULL,12364,NULL,NULL,NULL,23,NULL,NULL,NULL),(37144,'NCBI Gene Summary',NULL,12365,NULL,'This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(37145,'NCBI Gene PubMed Count',NULL,12365,NULL,NULL,NULL,64,NULL,NULL,NULL),(37146,'NCBI Gene Summary',NULL,12366,NULL,'This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(37147,'NCBI Gene PubMed Count',NULL,12366,NULL,NULL,NULL,42,NULL,NULL,NULL),(37148,'NCBI Gene PubMed Count',NULL,12367,NULL,NULL,NULL,13,NULL,NULL,NULL),(37149,'NCBI Gene Summary',NULL,12368,NULL,'The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(37150,'NCBI Gene PubMed Count',NULL,12368,NULL,NULL,NULL,16,NULL,NULL,NULL),(37151,'NCBI Gene PubMed Count',NULL,12369,NULL,NULL,NULL,4,NULL,NULL,NULL),(37152,'NCBI Gene Summary',NULL,12370,NULL,'This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on various polyunsaturated fatty acid substrates to generate various bioactive lipid mediators such as eicosanoids, hepoxilins, lipoxins, and other molecules. The encoded enzyme and its reaction products have been shown to regulate inflammation and immunity. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(37153,'NCBI Gene PubMed Count',NULL,12370,NULL,NULL,NULL,192,NULL,NULL,NULL),(37154,'NCBI Gene Summary',NULL,12371,NULL,'Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37155,'NCBI Gene PubMed Count',NULL,12371,NULL,NULL,NULL,26,NULL,NULL,NULL),(37156,'NCBI Gene Summary',NULL,12372,NULL,'This gene encodes a member of family I of the G protein-coupled receptors, as well as the EDG family of proteins. This protein functions as a lysophosphatidic acid (LPA) receptor and contributes to Ca2+ mobilization, a critical cellular response to LPA in cells, through association with Gi and Gq proteins. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37157,'NCBI Gene PubMed Count',NULL,12372,NULL,NULL,NULL,60,NULL,NULL,NULL),(37158,'NCBI Gene PubMed Count',NULL,12373,NULL,NULL,NULL,11,NULL,NULL,NULL),(37159,'NCBI Gene PubMed Count',NULL,12374,NULL,NULL,NULL,8,NULL,NULL,NULL),(37160,'NCBI Gene PubMed Count',NULL,12375,NULL,NULL,NULL,2,NULL,NULL,NULL),(37161,'NCBI Gene Summary',NULL,12376,NULL,'The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37162,'NCBI Gene PubMed Count',NULL,12376,NULL,NULL,NULL,16,NULL,NULL,NULL),(37163,'NCBI Gene PubMed Count',NULL,12377,NULL,NULL,NULL,11,NULL,NULL,NULL),(37164,'NCBI Gene Summary',NULL,12378,NULL,'This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(37165,'NCBI Gene PubMed Count',NULL,12378,NULL,NULL,NULL,12,NULL,NULL,NULL),(37166,'NCBI Gene PubMed Count',NULL,12379,NULL,NULL,NULL,2,NULL,NULL,NULL),(37167,'NCBI Gene PubMed Count',NULL,12380,NULL,NULL,NULL,9,NULL,NULL,NULL),(37168,'NCBI Gene PubMed Count',NULL,12381,NULL,NULL,NULL,3,NULL,NULL,NULL),(37169,'NCBI Gene Summary',NULL,12382,NULL,'NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(37170,'NCBI Gene PubMed Count',NULL,12382,NULL,NULL,NULL,17,NULL,NULL,NULL),(37171,'NCBI Gene Summary',NULL,12383,NULL,'The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37172,'NCBI Gene PubMed Count',NULL,12383,NULL,NULL,NULL,14,NULL,NULL,NULL),(37173,'NCBI Gene PubMed Count',NULL,12384,NULL,NULL,NULL,7,NULL,NULL,NULL),(37174,'NCBI Gene Summary',NULL,12385,NULL,'This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3\'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(37175,'NCBI Gene PubMed Count',NULL,12385,NULL,NULL,NULL,31,NULL,NULL,NULL),(37176,'NCBI Gene Summary',NULL,12386,NULL,'This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37177,'NCBI Gene PubMed Count',NULL,12386,NULL,NULL,NULL,218,NULL,NULL,NULL),(37178,'NCBI Gene PubMed Count',NULL,12387,NULL,NULL,NULL,12,NULL,NULL,NULL),(37179,'NCBI Gene Summary',NULL,12388,NULL,'This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(37180,'NCBI Gene PubMed Count',NULL,12388,NULL,NULL,NULL,75,NULL,NULL,NULL),(37181,'NCBI Gene PubMed Count',NULL,12389,NULL,NULL,NULL,7,NULL,NULL,NULL),(37182,'NCBI Gene Summary',NULL,12390,NULL,'This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(37183,'NCBI Gene PubMed Count',NULL,12390,NULL,NULL,NULL,57,NULL,NULL,NULL),(37184,'NCBI Gene PubMed Count',NULL,12391,NULL,NULL,NULL,3,NULL,NULL,NULL),(37185,'NCBI Gene PubMed Count',NULL,12392,NULL,NULL,NULL,7,NULL,NULL,NULL),(37186,'NCBI Gene PubMed Count',NULL,12393,NULL,NULL,NULL,2,NULL,NULL,NULL),(37187,'NCBI Gene PubMed Count',NULL,12394,NULL,NULL,NULL,18,NULL,NULL,NULL),(37188,'NCBI Gene PubMed Count',NULL,12395,NULL,NULL,NULL,8,NULL,NULL,NULL),(37189,'NCBI Gene Summary',NULL,12396,NULL,'This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(37190,'NCBI Gene PubMed Count',NULL,12396,NULL,NULL,NULL,24,NULL,NULL,NULL),(37191,'NCBI Gene Summary',NULL,12397,NULL,'This gene encodes a low density lipoprotein receptor family protein. A similar protein in mouse is thought to play a role in the uptake of apolipoprotein E-containing lipoproteins. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(37192,'NCBI Gene PubMed Count',NULL,12397,NULL,NULL,NULL,15,NULL,NULL,NULL),(37193,'NCBI Gene PubMed Count',NULL,12398,NULL,NULL,NULL,4,NULL,NULL,NULL),(37194,'NCBI Gene PubMed Count',NULL,12399,NULL,NULL,NULL,12,NULL,NULL,NULL),(37195,'NCBI Gene PubMed Count',NULL,12400,NULL,NULL,NULL,17,NULL,NULL,NULL),(37196,'NCBI Gene Summary',NULL,12401,NULL,'This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37197,'NCBI Gene PubMed Count',NULL,12401,NULL,NULL,NULL,78,NULL,NULL,NULL),(37198,'NCBI Gene Summary',NULL,12402,NULL,'This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3\'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 19. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(37199,'NCBI Gene PubMed Count',NULL,12402,NULL,NULL,NULL,35,NULL,NULL,NULL),(37200,'NCBI Gene PubMed Count',NULL,12403,NULL,NULL,NULL,14,NULL,NULL,NULL),(37201,'NCBI Gene PubMed Count',NULL,12404,NULL,NULL,NULL,6,NULL,NULL,NULL),(37202,'NCBI Gene Summary',NULL,12405,NULL,'NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(37203,'NCBI Gene PubMed Count',NULL,12405,NULL,NULL,NULL,16,NULL,NULL,NULL),(37204,'NCBI Gene PubMed Count',NULL,12406,NULL,NULL,NULL,64,NULL,NULL,NULL),(37205,'NCBI Gene PubMed Count',NULL,12407,NULL,NULL,NULL,9,NULL,NULL,NULL),(37206,'NCBI Gene Summary',NULL,12408,NULL,'The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(37207,'NCBI Gene PubMed Count',NULL,12408,NULL,NULL,NULL,35,NULL,NULL,NULL),(37208,'NCBI Gene PubMed Count',NULL,12409,NULL,NULL,NULL,6,NULL,NULL,NULL),(37209,'NCBI Gene PubMed Count',NULL,12410,NULL,NULL,NULL,4,NULL,NULL,NULL),(37210,'NCBI Gene PubMed Count',NULL,12411,NULL,NULL,NULL,6,NULL,NULL,NULL),(37211,'NCBI Gene PubMed Count',NULL,12412,NULL,NULL,NULL,8,NULL,NULL,NULL),(37212,'NCBI Gene Summary',NULL,12413,NULL,'The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37213,'NCBI Gene PubMed Count',NULL,12413,NULL,NULL,NULL,423,NULL,NULL,NULL),(37214,'NCBI Gene PubMed Count',NULL,12414,NULL,NULL,NULL,9,NULL,NULL,NULL),(37215,'NCBI Gene PubMed Count',NULL,12415,NULL,NULL,NULL,7,NULL,NULL,NULL),(37216,'NCBI Gene PubMed Count',NULL,12416,NULL,NULL,NULL,1,NULL,NULL,NULL),(37217,'NCBI Gene Summary',NULL,12417,NULL,'This locus represents naturally occurring read-through transcription between the neighboring lymphocyte antigen 75 (LY75) and CD302 molecule (CD302) genes. Alternative splicing results in multiple transcript variants encoding fusion products that share sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(37218,'NCBI Gene PubMed Count',NULL,12417,NULL,NULL,NULL,2,NULL,NULL,NULL),(37219,'NCBI Gene Summary',NULL,12418,NULL,'This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37220,'NCBI Gene PubMed Count',NULL,12418,NULL,NULL,NULL,55,NULL,NULL,NULL),(37221,'NCBI Gene Summary',NULL,12419,NULL,'Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL2 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(37222,'NCBI Gene PubMed Count',NULL,12419,NULL,NULL,NULL,8,NULL,NULL,NULL),(37223,'NCBI Gene PubMed Count',NULL,12420,NULL,NULL,NULL,29,NULL,NULL,NULL),(37224,'NCBI Gene Summary',NULL,12421,NULL,'This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(37225,'NCBI Gene PubMed Count',NULL,12421,NULL,NULL,NULL,8,NULL,NULL,NULL),(37226,'NCBI Gene PubMed Count',NULL,12422,NULL,NULL,NULL,24,NULL,NULL,NULL),(37227,'NCBI Gene PubMed Count',NULL,12423,NULL,NULL,NULL,5,NULL,NULL,NULL),(37228,'NCBI Gene PubMed Count',NULL,12424,NULL,NULL,NULL,3,NULL,NULL,NULL),(37229,'NCBI Gene PubMed Count',NULL,12425,NULL,NULL,NULL,6,NULL,NULL,NULL),(37230,'NCBI Gene Summary',NULL,12426,NULL,'The protein encoded by this gene contains a SLT domain, a protein domain present in bacterial lytic transglycosylase (SLT) and in eukaryotic lysozymes (GEWL). SLT domain catalyzes the cleavage of the beta-1,4-glycosidic bond between N-acetylmuramic acid (MurNAc) and N-acetyglucosamine (GlcNAc). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37231,'NCBI Gene PubMed Count',NULL,12426,NULL,NULL,NULL,8,NULL,NULL,NULL),(37232,'NCBI Gene Summary',NULL,12427,NULL,'This gene encodes a member of the alpha/beta hydrolase superfamily. The encoded protein functions as a homodimer, exhibiting both depalmitoylating as well as lysophospholipase activity, and may be involved in Ras localization and signaling. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 4, 6, and 7. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(37233,'NCBI Gene PubMed Count',NULL,12427,NULL,NULL,NULL,25,NULL,NULL,NULL),(37234,'NCBI Gene PubMed Count',NULL,12428,NULL,NULL,NULL,11,NULL,NULL,NULL),(37235,'NCBI Gene Summary',NULL,12429,NULL,'Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(37236,'NCBI Gene PubMed Count',NULL,12429,NULL,NULL,NULL,13,NULL,NULL,NULL),(37237,'NCBI Gene Summary',NULL,12430,NULL,'This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37238,'NCBI Gene PubMed Count',NULL,12430,NULL,NULL,NULL,35,NULL,NULL,NULL),(37239,'NCBI Gene Summary',NULL,12431,NULL,'This gene encodes a protein highly similar to the mouse MAP6 domain containing 1 protein, which is related to the STOP proteins. Based on the study of the mouse protein, the encoded protein may function as a calmodulin-regulated neuronal protein that binds and stabilizes microtubules but also associates with the Golgi membranes through N-terminal palmitoylation. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(37240,'NCBI Gene PubMed Count',NULL,12431,NULL,NULL,NULL,6,NULL,NULL,NULL),(37241,'NCBI Gene Summary',NULL,12432,NULL,'This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37242,'NCBI Gene PubMed Count',NULL,12432,NULL,NULL,NULL,29,NULL,NULL,NULL),(37243,'NCBI Gene Summary',NULL,12433,NULL,'This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region, and expressed in testis and in a significant fraction of tumors of various histological types. This gene and other MAGEB members are clustered on chromosome Xp22-p21. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene, however, the full length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37244,'NCBI Gene PubMed Count',NULL,12433,NULL,NULL,NULL,9,NULL,NULL,NULL),(37245,'NCBI Gene Summary',NULL,12434,NULL,'This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEB genes are clustered on chromosome Xp22-p21. This gene sequence ends in the first intron of MAGEB1, another family member. This gene is expressed in testis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37246,'NCBI Gene PubMed Count',NULL,12434,NULL,NULL,NULL,9,NULL,NULL,NULL),(37247,'NCBI Gene Summary',NULL,12435,NULL,'This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37248,'NCBI Gene PubMed Count',NULL,12435,NULL,NULL,NULL,24,NULL,NULL,NULL),(37249,'NCBI Gene Summary',NULL,12436,NULL,'This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is expressed in testis, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37250,'NCBI Gene PubMed Count',NULL,12436,NULL,NULL,NULL,7,NULL,NULL,NULL),(37251,'NCBI Gene PubMed Count',NULL,12437,NULL,NULL,NULL,9,NULL,NULL,NULL),(37252,'NCBI Gene Summary',NULL,12438,NULL,'This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(37253,'NCBI Gene PubMed Count',NULL,12438,NULL,NULL,NULL,25,NULL,NULL,NULL),(37254,'NCBI Gene Summary',NULL,12439,NULL,'This gene is a member of the melanoma antigen gene (MAGE) family. The proteins of this family are tumor-specific antigens that can be recognized by autologous cytolytic T lymphocytes. This protein contains a large number of unique short repetitive sequences in front of the MAGE-homologous sequence, and therefore is about 800 aa longer than the other MAGE proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37255,'NCBI Gene PubMed Count',NULL,12439,NULL,NULL,NULL,29,NULL,NULL,NULL),(37256,'NCBI Gene PubMed Count',NULL,12440,NULL,NULL,NULL,8,NULL,NULL,NULL),(37257,'NCBI Gene Summary',NULL,12441,NULL,'This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37258,'NCBI Gene PubMed Count',NULL,12441,NULL,NULL,NULL,139,NULL,NULL,NULL),(37259,'NCBI Gene Summary',NULL,12442,NULL,'This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(37260,'NCBI Gene PubMed Count',NULL,12442,NULL,NULL,NULL,39,NULL,NULL,NULL),(37261,'NCBI Gene PubMed Count',NULL,12443,NULL,NULL,NULL,29,NULL,NULL,NULL),(37262,'NCBI Gene Summary',NULL,12444,NULL,'This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(37263,'NCBI Gene PubMed Count',NULL,12444,NULL,NULL,NULL,176,NULL,NULL,NULL),(37264,'NCBI Gene Summary',NULL,12445,NULL,'The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37265,'NCBI Gene PubMed Count',NULL,12445,NULL,NULL,NULL,87,NULL,NULL,NULL),(37266,'NCBI Gene Summary',NULL,12446,NULL,'The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(37267,'NCBI Gene PubMed Count',NULL,12446,NULL,NULL,NULL,46,NULL,NULL,NULL),(37268,'NCBI Gene Summary',NULL,12447,NULL,'This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer\'s disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(37269,'NCBI Gene PubMed Count',NULL,12447,NULL,NULL,NULL,33,NULL,NULL,NULL),(37270,'NCBI Gene Summary',NULL,12448,NULL,'The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(37271,'NCBI Gene PubMed Count',NULL,12448,NULL,NULL,NULL,77,NULL,NULL,NULL),(37272,'NCBI Gene PubMed Count',NULL,12449,NULL,NULL,NULL,43,NULL,NULL,NULL),(37273,'NCBI Gene Summary',NULL,12450,NULL,'MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(37274,'NCBI Gene PubMed Count',NULL,12450,NULL,NULL,NULL,97,NULL,NULL,NULL),(37275,'NCBI Gene Summary',NULL,12451,NULL,'The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37276,'NCBI Gene PubMed Count',NULL,12451,NULL,NULL,NULL,35,NULL,NULL,NULL),(37277,'NCBI Gene Summary',NULL,12452,NULL,'The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(37278,'NCBI Gene PubMed Count',NULL,12452,NULL,NULL,NULL,22,NULL,NULL,NULL),(37279,'NCBI Gene Summary',NULL,12453,NULL,'The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(37280,'NCBI Gene PubMed Count',NULL,12453,NULL,NULL,NULL,10,NULL,NULL,NULL),(37281,'NCBI Gene PubMed Count',NULL,12454,NULL,NULL,NULL,3,NULL,NULL,NULL),(37282,'NCBI Gene Summary',NULL,12455,NULL,'DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(37283,'NCBI Gene PubMed Count',NULL,12455,NULL,NULL,NULL,537,NULL,NULL,NULL),(37284,'NCBI Gene Summary',NULL,12456,NULL,'MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(37285,'NCBI Gene PubMed Count',NULL,12456,NULL,NULL,NULL,5,NULL,NULL,NULL),(37286,'NCBI Gene Summary',NULL,12457,NULL,'The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(37287,'NCBI Gene PubMed Count',NULL,12457,NULL,NULL,NULL,36,NULL,NULL,NULL),(37288,'NCBI Gene Summary',NULL,12458,NULL,'Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM, May 2008]',NULL,NULL,NULL,NULL,NULL),(37289,'NCBI Gene PubMed Count',NULL,12458,NULL,NULL,NULL,10,NULL,NULL,NULL),(37290,'NCBI Gene PubMed Count',NULL,12459,NULL,NULL,NULL,7,NULL,NULL,NULL),(37291,'NCBI Gene PubMed Count',NULL,12460,NULL,NULL,NULL,3,NULL,NULL,NULL),(37292,'NCBI Gene PubMed Count',NULL,12461,NULL,NULL,NULL,5,NULL,NULL,NULL),(37293,'NCBI Gene PubMed Count',NULL,12462,NULL,NULL,NULL,19,NULL,NULL,NULL),(37294,'NCBI Gene Summary',NULL,12463,NULL,'This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37295,'NCBI Gene PubMed Count',NULL,12463,NULL,NULL,NULL,30,NULL,NULL,NULL),(37296,'NCBI Gene PubMed Count',NULL,12464,NULL,NULL,NULL,6,NULL,NULL,NULL),(37297,'NCBI Gene PubMed Count',NULL,12465,NULL,NULL,NULL,6,NULL,NULL,NULL),(37298,'NCBI Gene PubMed Count',NULL,12466,NULL,NULL,NULL,9,NULL,NULL,NULL),(37299,'NCBI Gene PubMed Count',NULL,12467,NULL,NULL,NULL,8,NULL,NULL,NULL),(37300,'NCBI Gene PubMed Count',NULL,12468,NULL,NULL,NULL,7,NULL,NULL,NULL),(37301,'NCBI Gene PubMed Count',NULL,12469,NULL,NULL,NULL,10,NULL,NULL,NULL),(37302,'NCBI Gene Summary',NULL,12470,NULL,'Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(37303,'NCBI Gene PubMed Count',NULL,12470,NULL,NULL,NULL,16,NULL,NULL,NULL),(37304,'NCBI Gene Summary',NULL,12471,NULL,'This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(37305,'NCBI Gene PubMed Count',NULL,12471,NULL,NULL,NULL,23,NULL,NULL,NULL),(37306,'NCBI Gene PubMed Count',NULL,12472,NULL,NULL,NULL,10,NULL,NULL,NULL),(37307,'NCBI Gene Summary',NULL,12473,NULL,'Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(37308,'NCBI Gene PubMed Count',NULL,12473,NULL,NULL,NULL,20,NULL,NULL,NULL),(37309,'NCBI Gene PubMed Count',NULL,12474,NULL,NULL,NULL,15,NULL,NULL,NULL),(37310,'NCBI Gene PubMed Count',NULL,12475,NULL,NULL,NULL,54,NULL,NULL,NULL),(37311,'NCBI Gene Summary',NULL,12476,NULL,'This locus represents naturally occurring read-through transcription between the neighboring chromosome 1 open reading frame 151 (GeneID 440574) and neuroblastoma suppressor of tumorigenicity 1 (GeneID 4681) genes on chromosome 1. The read-through transcripts produce at least two proteins, each of which share identity with proteins translated from the downstream neuroblastoma suppressor of tumorigenicity 1 locus. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(37312,'NCBI Gene PubMed Count',NULL,12476,NULL,NULL,NULL,1,NULL,NULL,NULL),(37313,'NCBI Gene PubMed Count',NULL,12477,NULL,NULL,NULL,3,NULL,NULL,NULL),(37314,'NCBI Gene Summary',NULL,12478,NULL,'This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(37315,'NCBI Gene PubMed Count',NULL,12478,NULL,NULL,NULL,35,NULL,NULL,NULL),(37316,'NCBI Gene Summary',NULL,12479,NULL,'The protein encoded by this gene belongs to the leucine zipper tumor suppressor family of proteins, which function in transcription regulation and cell cycle control. This family member can repress beta-catenin-mediated transcriptional activation and is a negative regulator of the Wnt signaling pathway. It negatively regulates microtubule severing at centrosomes, and is necessary for central spindle formation and cytokinesis completion. It is implicated in cancer, where it may inhibit cell proliferation and decrease susceptibility to tumor development. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(37317,'NCBI Gene PubMed Count',NULL,12479,NULL,NULL,NULL,32,NULL,NULL,NULL),(37318,'NCBI Gene PubMed Count',NULL,12480,NULL,NULL,NULL,10,NULL,NULL,NULL),(37319,'NCBI Gene Summary',NULL,12481,NULL,'This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37320,'NCBI Gene PubMed Count',NULL,12481,NULL,NULL,NULL,23,NULL,NULL,NULL),(37321,'NCBI Gene Summary',NULL,12482,NULL,'The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(37322,'NCBI Gene PubMed Count',NULL,12482,NULL,NULL,NULL,10,NULL,NULL,NULL),(37323,'NCBI Gene PubMed Count',NULL,12483,NULL,NULL,NULL,2,NULL,NULL,NULL),(37324,'NCBI Gene Summary',NULL,12484,NULL,'This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(37325,'NCBI Gene PubMed Count',NULL,12484,NULL,NULL,NULL,31,NULL,NULL,NULL),(37326,'NCBI Gene Summary',NULL,12485,NULL,'The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(37327,'NCBI Gene PubMed Count',NULL,12485,NULL,NULL,NULL,36,NULL,NULL,NULL),(37328,'NCBI Gene PubMed Count',NULL,12486,NULL,NULL,NULL,14,NULL,NULL,NULL),(37329,'NCBI Gene Summary',NULL,12487,NULL,'This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(37330,'NCBI Gene PubMed Count',NULL,12487,NULL,NULL,NULL,26,NULL,NULL,NULL),(37331,'NCBI Gene Summary',NULL,12488,NULL,'This gene encodes a LIN-28 family RNA-binding protein that acts as a posttranscriptional regulator of genes involved in developmental timing and self-renewal in embryonic stem cells. The encoded protein functions through direct interaction with target mRNAs and by disrupting the maturation of certain miRNAs involved in embryonic development. This protein prevents the terminal processing of the LET7 family of microRNAs which are major regulators of cellular growth and differentiation. Aberrant expression of this gene is associated with cancer progression in multiple tissues. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(37332,'NCBI Gene PubMed Count',NULL,12488,NULL,NULL,NULL,127,NULL,NULL,NULL),(37333,'NCBI Gene Summary',NULL,12489,NULL,'This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37334,'NCBI Gene PubMed Count',NULL,12489,NULL,NULL,NULL,38,NULL,NULL,NULL),(37335,'NCBI Gene Summary',NULL,12490,NULL,'This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37336,'NCBI Gene PubMed Count',NULL,12490,NULL,NULL,NULL,36,NULL,NULL,NULL),(37337,'NCBI Gene PubMed Count',NULL,12491,NULL,NULL,NULL,6,NULL,NULL,NULL),(37338,'NCBI Gene Summary',NULL,12492,NULL,'This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(37339,'NCBI Gene PubMed Count',NULL,12492,NULL,NULL,NULL,7,NULL,NULL,NULL),(37340,'NCBI Gene PubMed Count',NULL,12493,NULL,NULL,NULL,6,NULL,NULL,NULL),(37341,'NCBI Gene PubMed Count',NULL,12494,NULL,NULL,NULL,7,NULL,NULL,NULL),(37342,'NCBI Gene PubMed Count',NULL,12495,NULL,NULL,NULL,3,NULL,NULL,NULL),(37343,'NCBI Gene PubMed Count',NULL,12496,NULL,NULL,NULL,7,NULL,NULL,NULL),(37344,'NCBI Gene PubMed Count',NULL,12497,NULL,NULL,NULL,6,NULL,NULL,NULL),(37345,'NCBI Gene Summary',NULL,12498,NULL,'This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(37346,'NCBI Gene PubMed Count',NULL,12498,NULL,NULL,NULL,32,NULL,NULL,NULL),(37347,'NCBI Gene PubMed Count',NULL,12499,NULL,NULL,NULL,28,NULL,NULL,NULL),(37348,'NCBI Gene Summary',NULL,12500,NULL,'This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37349,'NCBI Gene PubMed Count',NULL,12500,NULL,NULL,NULL,828,NULL,NULL,NULL),(37350,'NCBI Gene PubMed Count',NULL,12501,NULL,NULL,NULL,6,NULL,NULL,NULL),(37351,'NCBI Gene Summary',NULL,12502,NULL,'This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(37352,'NCBI Gene PubMed Count',NULL,12502,NULL,NULL,NULL,14,NULL,NULL,NULL),(37353,'NCBI Gene PubMed Count',NULL,12503,NULL,NULL,NULL,8,NULL,NULL,NULL),(37354,'NCBI Gene PubMed Count',NULL,12504,NULL,NULL,NULL,10,NULL,NULL,NULL),(37355,'NCBI Gene PubMed Count',NULL,12505,NULL,NULL,NULL,9,NULL,NULL,NULL),(37356,'NCBI Gene Summary',NULL,12506,NULL,'Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(37357,'NCBI Gene PubMed Count',NULL,12506,NULL,NULL,NULL,21,NULL,NULL,NULL),(37358,'NCBI Gene PubMed Count',NULL,12507,NULL,NULL,NULL,8,NULL,NULL,NULL),(37359,'NCBI Gene Summary',NULL,12508,NULL,'The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(37360,'NCBI Gene PubMed Count',NULL,12508,NULL,NULL,NULL,5,NULL,NULL,NULL),(37361,'NCBI Gene Summary',NULL,12509,NULL,'This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37362,'NCBI Gene PubMed Count',NULL,12509,NULL,NULL,NULL,386,NULL,NULL,NULL),(37363,'NCBI Gene Summary',NULL,12510,NULL,'The protein encoded by this gene is found in both mitochondria and the nucleus, where it binds cysteine desulfurase and helps free inorganic sulfur for Fe/S clusters. Disruption of this gene negatively impacts mitochondrial and cytosolic iron homeostasis. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(37364,'NCBI Gene PubMed Count',NULL,12510,NULL,NULL,NULL,30,NULL,NULL,NULL),(37365,'NCBI Gene PubMed Count',NULL,12511,NULL,NULL,NULL,6,NULL,NULL,NULL),(37366,'NCBI Gene PubMed Count',NULL,12512,NULL,NULL,NULL,4,NULL,NULL,NULL),(37367,'NCBI Gene Summary',NULL,12513,NULL,'MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(37368,'NCBI Gene PubMed Count',NULL,12513,NULL,NULL,NULL,37,NULL,NULL,NULL),(37369,'NCBI Gene PubMed Count',NULL,12514,NULL,NULL,NULL,14,NULL,NULL,NULL),(37370,'NCBI Gene PubMed Count',NULL,12515,NULL,NULL,NULL,2,NULL,NULL,NULL),(37371,'NCBI Gene Summary',NULL,12516,NULL,'This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(37372,'NCBI Gene PubMed Count',NULL,12516,NULL,NULL,NULL,8,NULL,NULL,NULL),(37373,'NCBI Gene Summary',NULL,12517,NULL,'This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(37374,'NCBI Gene PubMed Count',NULL,12517,NULL,NULL,NULL,177,NULL,NULL,NULL),(37375,'NCBI Gene Summary',NULL,12518,NULL,'The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor type 5. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(37376,'NCBI Gene PubMed Count',NULL,12518,NULL,NULL,NULL,15,NULL,NULL,NULL),(37377,'NCBI Gene Summary',NULL,12519,NULL,'This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(37378,'NCBI Gene PubMed Count',NULL,12519,NULL,NULL,NULL,104,NULL,NULL,NULL),(37379,'NCBI Gene Summary',NULL,12520,NULL,'This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(37380,'NCBI Gene PubMed Count',NULL,12520,NULL,NULL,NULL,13,NULL,NULL,NULL),(37381,'NCBI Gene Summary',NULL,12521,NULL,'MARCH9 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH9 induces internalization of several membrane glycoproteins and directs them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Hoer et al., 2007 [PubMed 17174307]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(37382,'NCBI Gene PubMed Count',NULL,12521,NULL,NULL,NULL,10,NULL,NULL,NULL),(37383,'NCBI Gene Summary',NULL,12522,NULL,'MARCH10 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(37384,'NCBI Gene PubMed Count',NULL,12522,NULL,NULL,NULL,11,NULL,NULL,NULL),(37385,'NCBI Gene Summary',NULL,12523,NULL,'This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37386,'NCBI Gene PubMed Count',NULL,12523,NULL,NULL,NULL,20,NULL,NULL,NULL),(37387,'NCBI Gene Summary',NULL,12524,NULL,'The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(37388,'NCBI Gene PubMed Count',NULL,12524,NULL,NULL,NULL,382,NULL,NULL,NULL),(37389,'NCBI Gene Summary',NULL,12525,NULL,'DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(37390,'NCBI Gene PubMed Count',NULL,12525,NULL,NULL,NULL,102,NULL,NULL,NULL),(37391,'NCBI Gene Summary',NULL,12526,NULL,'The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(37392,'NCBI Gene PubMed Count',NULL,12526,NULL,NULL,NULL,34,NULL,NULL,NULL),(37393,'NCBI Gene Summary',NULL,12527,NULL,'This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein has been found in germ cell tumors and some somatic tissues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37394,'NCBI Gene PubMed Count',NULL,12527,NULL,NULL,NULL,6,NULL,NULL,NULL),(37395,'NCBI Gene Summary',NULL,12528,NULL,'This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include melanin-concentrating hormone (MCH), neuropeptide-glutamic acid-isoleucine (NEI), and neuropeptide-glycine-glutamic acid (NGE). Melanin-concentrating hormone is a 19-amino acid neuropeptide that stimulates hunger and may additionally regulate energy homeostasis, reproductive function, and sleep. Pseudogenes of this gene have been identified on chromosome 5. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(37396,'NCBI Gene PubMed Count',NULL,12528,NULL,NULL,NULL,59,NULL,NULL,NULL),(37397,'NCBI Gene Summary',NULL,12529,NULL,'The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called \"Golli-MBP\") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37398,'NCBI Gene PubMed Count',NULL,12529,NULL,NULL,NULL,145,NULL,NULL,NULL),(37399,'NCBI Gene Summary',NULL,12530,NULL,'This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(37400,'NCBI Gene PubMed Count',NULL,12530,NULL,NULL,NULL,21,NULL,NULL,NULL),(37401,'NCBI Gene Summary',NULL,12531,NULL,'This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(37402,'NCBI Gene PubMed Count',NULL,12531,NULL,NULL,NULL,113,NULL,NULL,NULL),(37403,'NCBI Gene Summary',NULL,12532,NULL,'The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37404,'NCBI Gene PubMed Count',NULL,12532,NULL,NULL,NULL,47,NULL,NULL,NULL),(37405,'NCBI Gene Summary',NULL,12533,NULL,'The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(37406,'NCBI Gene PubMed Count',NULL,12533,NULL,NULL,NULL,45,NULL,NULL,NULL),(37407,'NCBI Gene PubMed Count',NULL,12534,NULL,NULL,NULL,7,NULL,NULL,NULL),(37408,'NCBI Gene PubMed Count',NULL,12535,NULL,NULL,NULL,53,NULL,NULL,NULL),(37409,'NCBI Gene Summary',NULL,12536,NULL,'Sperm mitochondria differ in morphology and subcellular localization from those of somatic cells. They are elongated, flattened, and arranged circumferentially to form a helical coiled sheath in the midpiece of the sperm flagellum. The protein encoded by this gene localizes to the capsule associated with the mitochondrial outer membranes and is thought to function in the organization and stabilization of the helical structure of the sperm\'s mitochondrial sheath. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37410,'NCBI Gene PubMed Count',NULL,12536,NULL,NULL,NULL,15,NULL,NULL,NULL),(37411,'NCBI Gene Summary',NULL,12537,NULL,'This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(37412,'NCBI Gene PubMed Count',NULL,12537,NULL,NULL,NULL,51,NULL,NULL,NULL),(37413,'NCBI Gene PubMed Count',NULL,12538,NULL,NULL,NULL,1,NULL,NULL,NULL),(37414,'NCBI Gene Summary',NULL,12539,NULL,'This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(37415,'NCBI Gene PubMed Count',NULL,12539,NULL,NULL,NULL,12,NULL,NULL,NULL),(37416,'NCBI Gene PubMed Count',NULL,12540,NULL,NULL,NULL,10,NULL,NULL,NULL),(37417,'NCBI Gene PubMed Count',NULL,12541,NULL,NULL,NULL,1,NULL,NULL,NULL),(37418,'NCBI Gene PubMed Count',NULL,12542,NULL,NULL,NULL,15,NULL,NULL,NULL),(37419,'NCBI Gene Summary',NULL,12543,NULL,'This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37420,'NCBI Gene PubMed Count',NULL,12543,NULL,NULL,NULL,7,NULL,NULL,NULL),(37421,'NCBI Gene Summary',NULL,12544,NULL,'This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream melanoma antigen family A, 5 (MAGEA5) gene.[provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(37422,'NCBI Gene PubMed Count',NULL,12544,NULL,NULL,NULL,16,NULL,NULL,NULL),(37423,'NCBI Gene Summary',NULL,12545,NULL,'This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37424,'NCBI Gene PubMed Count',NULL,12545,NULL,NULL,NULL,31,NULL,NULL,NULL),(37425,'NCBI Gene Summary',NULL,12546,NULL,'This gene is a member of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors of various histological types. This gene and the other MAGEC genes are clustered on chromosome Xq26-q27. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(37426,'NCBI Gene PubMed Count',NULL,12546,NULL,NULL,NULL,43,NULL,NULL,NULL),(37427,'NCBI Gene Summary',NULL,12547,NULL,'This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(37428,'NCBI Gene PubMed Count',NULL,12547,NULL,NULL,NULL,22,NULL,NULL,NULL),(37429,'NCBI Gene Summary',NULL,12548,NULL,'This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(37430,'NCBI Gene PubMed Count',NULL,12548,NULL,NULL,NULL,24,NULL,NULL,NULL),(37431,'NCBI Gene Summary',NULL,12549,NULL,'MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(37432,'NCBI Gene PubMed Count',NULL,12549,NULL,NULL,NULL,17,NULL,NULL,NULL),(37433,'NCBI Gene Summary',NULL,12550,NULL,'This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37434,'NCBI Gene PubMed Count',NULL,12550,NULL,NULL,NULL,40,NULL,NULL,NULL),(37435,'NCBI Gene Summary',NULL,12551,NULL,'The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(37436,'NCBI Gene PubMed Count',NULL,12551,NULL,NULL,NULL,22,NULL,NULL,NULL),(37437,'NCBI Gene Summary',NULL,12552,NULL,'ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(37438,'NCBI Gene PubMed Count',NULL,12552,NULL,NULL,NULL,11,NULL,NULL,NULL),(37439,'NCBI Gene Summary',NULL,12553,NULL,'This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37440,'NCBI Gene PubMed Count',NULL,12553,NULL,NULL,NULL,735,NULL,NULL,NULL),(37441,'NCBI Gene Summary',NULL,12554,NULL,'This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37442,'NCBI Gene PubMed Count',NULL,12554,NULL,NULL,NULL,34,NULL,NULL,NULL),(37443,'NCBI Gene Summary',NULL,12555,NULL,'The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(37444,'NCBI Gene PubMed Count',NULL,12555,NULL,NULL,NULL,61,NULL,NULL,NULL),(37445,'NCBI Gene Summary',NULL,12556,NULL,'This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(37446,'NCBI Gene PubMed Count',NULL,12556,NULL,NULL,NULL,26,NULL,NULL,NULL),(37447,'NCBI Gene Summary',NULL,12557,NULL,'This gene encodes a member of the Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This enzyme is primarily associated with DNA repair during transcription and acts prefentially on cytosine-derived lesions, particularly 5-hydroxyuracil and 5-hydroxycytosine. It contains an N-terminal catalytic domain, a hinge region, and a C-terminal DNA-binding domain with helix-two-turn-helix and zinc finger motifs. This enzyme interacts with the X-ray cross complementing factor 1 scaffold protein as part of a multi-protein DNA repair complex. A pseudogene of this gene has been identified. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(37448,'NCBI Gene PubMed Count',NULL,12557,NULL,NULL,NULL,48,NULL,NULL,NULL),(37449,'NCBI Gene PubMed Count',NULL,12558,NULL,NULL,NULL,12,NULL,NULL,NULL),(37450,'NCBI Gene Summary',NULL,12559,NULL,'This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3\' UTR of this gene contains a transposon-like human repeat element named \'THE 1\'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(37451,'NCBI Gene PubMed Count',NULL,12559,NULL,NULL,NULL,33,NULL,NULL,NULL),(37452,'NCBI Gene PubMed Count',NULL,12560,NULL,NULL,NULL,2,NULL,NULL,NULL),(37453,'NCBI Gene Summary',NULL,12561,NULL,'The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(37454,'NCBI Gene PubMed Count',NULL,12561,NULL,NULL,NULL,43,NULL,NULL,NULL),(37455,'NCBI Gene PubMed Count',NULL,12562,NULL,NULL,NULL,7,NULL,NULL,NULL),(37456,'NCBI Gene PubMed Count',NULL,12563,NULL,NULL,NULL,6,NULL,NULL,NULL),(37457,'NCBI Gene PubMed Count',NULL,12564,NULL,NULL,NULL,2,NULL,NULL,NULL),(37458,'NCBI Gene Summary',NULL,12565,NULL,'The protein encoded by this gene is a kinase required for progression through the metaphase portion of mitosis. Inhibition of the encoded protein can lead to apoptosis. This protein also can enhance tumorigenesis by suppressing tumor cell senescence. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(37459,'NCBI Gene PubMed Count',NULL,12565,NULL,NULL,NULL,49,NULL,NULL,NULL),(37460,'NCBI Gene Summary',NULL,12566,NULL,'The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with and is acetylated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2018]',NULL,NULL,NULL,NULL,NULL),(37461,'NCBI Gene PubMed Count',NULL,12566,NULL,NULL,NULL,90,NULL,NULL,NULL),(37462,'NCBI Gene PubMed Count',NULL,12567,NULL,NULL,NULL,4,NULL,NULL,NULL),(37463,'NCBI Gene Summary',NULL,12568,NULL,'Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL4 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(37464,'NCBI Gene PubMed Count',NULL,12568,NULL,NULL,NULL,7,NULL,NULL,NULL),(37465,'NCBI Gene Summary',NULL,12569,NULL,'The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(37466,'NCBI Gene PubMed Count',NULL,12569,NULL,NULL,NULL,24,NULL,NULL,NULL),(37467,'NCBI Gene PubMed Count',NULL,12570,NULL,NULL,NULL,5,NULL,NULL,NULL),(37468,'NCBI Gene PubMed Count',NULL,12571,NULL,NULL,NULL,0,NULL,NULL,NULL),(37469,'NCBI Gene PubMed Count',NULL,12572,NULL,NULL,NULL,9,NULL,NULL,NULL),(37470,'NCBI Gene Summary',NULL,12573,NULL,'The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(37471,'NCBI Gene PubMed Count',NULL,12573,NULL,NULL,NULL,51,NULL,NULL,NULL),(37472,'NCBI Gene PubMed Count',NULL,12574,NULL,NULL,NULL,26,NULL,NULL,NULL),(37473,'NCBI Gene PubMed Count',NULL,12575,NULL,NULL,NULL,3,NULL,NULL,NULL),(37474,'NCBI Gene Summary',NULL,12576,NULL,'This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter\'s syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encoded by this gene is progressively recruited from the cytoplasm to the nucleoplasm during the interphase and after nucleolar stress and is thus thought to play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(37475,'NCBI Gene PubMed Count',NULL,12576,NULL,NULL,NULL,21,NULL,NULL,NULL),(37476,'NCBI Gene Summary',NULL,12577,NULL,'This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminus, 30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT, and two MAGE domains in the C-terminus. It may play a signaling role in brain, muscle, and peripheral nerve. This gene is located on X chromosome in a region containing loci linked to cognitive disability. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(37477,'NCBI Gene PubMed Count',NULL,12577,NULL,NULL,NULL,9,NULL,NULL,NULL),(37478,'NCBI Gene Summary',NULL,12578,NULL,'The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Down-regulation of this gene has been associated with a variety of human epithelial malignancies. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(37479,'NCBI Gene PubMed Count',NULL,12578,NULL,NULL,NULL,57,NULL,NULL,NULL),(37480,'NCBI Gene PubMed Count',NULL,12579,NULL,NULL,NULL,8,NULL,NULL,NULL),(37481,'NCBI Gene Summary',NULL,12580,NULL,'The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37482,'NCBI Gene PubMed Count',NULL,12580,NULL,NULL,NULL,15,NULL,NULL,NULL),(37483,'NCBI Gene Summary',NULL,12581,NULL,'The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37484,'NCBI Gene PubMed Count',NULL,12581,NULL,NULL,NULL,48,NULL,NULL,NULL),(37485,'NCBI Gene Summary',NULL,12582,NULL,'This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37486,'NCBI Gene PubMed Count',NULL,12582,NULL,NULL,NULL,24,NULL,NULL,NULL),(37487,'NCBI Gene Summary',NULL,12583,NULL,'This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(37488,'NCBI Gene PubMed Count',NULL,12583,NULL,NULL,NULL,118,NULL,NULL,NULL),(37489,'NCBI Gene Summary',NULL,12584,NULL,'The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(37490,'NCBI Gene PubMed Count',NULL,12584,NULL,NULL,NULL,39,NULL,NULL,NULL),(37491,'NCBI Gene PubMed Count',NULL,12585,NULL,NULL,NULL,30,NULL,NULL,NULL),(37492,'NCBI Gene PubMed Count',NULL,12586,NULL,NULL,NULL,57,NULL,NULL,NULL),(37493,'NCBI Gene PubMed Count',NULL,12587,NULL,NULL,NULL,11,NULL,NULL,NULL),(37494,'NCBI Gene Summary',NULL,12588,NULL,'MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(37495,'NCBI Gene PubMed Count',NULL,12588,NULL,NULL,NULL,17,NULL,NULL,NULL),(37496,'NCBI Gene Summary',NULL,12589,NULL,'This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(37497,'NCBI Gene PubMed Count',NULL,12589,NULL,NULL,NULL,50,NULL,NULL,NULL),(37498,'NCBI Gene Summary',NULL,12590,NULL,'This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37499,'NCBI Gene PubMed Count',NULL,12590,NULL,NULL,NULL,97,NULL,NULL,NULL),(37500,'NCBI Gene PubMed Count',NULL,12591,NULL,NULL,NULL,13,NULL,NULL,NULL),(37501,'NCBI Gene PubMed Count',NULL,12592,NULL,NULL,NULL,7,NULL,NULL,NULL),(37502,'NCBI Gene PubMed Count',NULL,12593,NULL,NULL,NULL,8,NULL,NULL,NULL),(37503,'NCBI Gene Summary',NULL,12594,NULL,'Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(37504,'NCBI Gene PubMed Count',NULL,12594,NULL,NULL,NULL,12,NULL,NULL,NULL),(37505,'NCBI Gene Summary',NULL,12595,NULL,'This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(37506,'NCBI Gene PubMed Count',NULL,12595,NULL,NULL,NULL,42,NULL,NULL,NULL),(37507,'NCBI Gene Summary',NULL,12596,NULL,'This gene encodes a tumor suppressor protein that is ubiquitously expressed in normal tissues. In uveal melanomas, expression of this protein is silenced in rapidly metastasizing and metastatic tumor cells but has normal expression in slowly metastasizing or nonmetastasizing tumor cells. This protein may have a role in cell-cycle control by interacting with the Cdk1/cyclinB1 complex. This gene is located on chromosomal region 8p22. Loss of heterozygosity (LOH) in the 8p arm is a common characteristic of many types of cancer. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(37508,'NCBI Gene PubMed Count',NULL,12596,NULL,NULL,NULL,28,NULL,NULL,NULL),(37509,'NCBI Gene Summary',NULL,12597,NULL,'This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(37510,'NCBI Gene PubMed Count',NULL,12597,NULL,NULL,NULL,11,NULL,NULL,NULL),(37511,'NCBI Gene Summary',NULL,12598,NULL,'Most MS4A genes, including MS4A4E, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(37512,'NCBI Gene PubMed Count',NULL,12598,NULL,NULL,NULL,6,NULL,NULL,NULL),(37513,'NCBI Gene Summary',NULL,12599,NULL,'This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(37514,'NCBI Gene PubMed Count',NULL,12599,NULL,NULL,NULL,48,NULL,NULL,NULL),(37515,'NCBI Gene Summary',NULL,12600,NULL,'The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37516,'NCBI Gene PubMed Count',NULL,12600,NULL,NULL,NULL,80,NULL,NULL,NULL),(37517,'NCBI Gene Summary',NULL,12601,NULL,'Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37518,'NCBI Gene PubMed Count',NULL,12601,NULL,NULL,NULL,53,NULL,NULL,NULL),(37519,'NCBI Gene PubMed Count',NULL,12602,NULL,NULL,NULL,12,NULL,NULL,NULL),(37520,'NCBI Gene Summary',NULL,12603,NULL,'The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37521,'NCBI Gene PubMed Count',NULL,12603,NULL,NULL,NULL,45,NULL,NULL,NULL),(37522,'NCBI Gene Summary',NULL,12604,NULL,'This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37523,'NCBI Gene PubMed Count',NULL,12604,NULL,NULL,NULL,67,NULL,NULL,NULL),(37524,'NCBI Gene Summary',NULL,12605,NULL,'This gene encodes a protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. The encoded protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(37525,'NCBI Gene PubMed Count',NULL,12605,NULL,NULL,NULL,16,NULL,NULL,NULL),(37526,'NCBI Gene Summary',NULL,12606,NULL,'The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(37527,'NCBI Gene PubMed Count',NULL,12606,NULL,NULL,NULL,27,NULL,NULL,NULL),(37528,'NCBI Gene PubMed Count',NULL,12607,NULL,NULL,NULL,20,NULL,NULL,NULL),(37529,'NCBI Gene PubMed Count',NULL,12608,NULL,NULL,NULL,5,NULL,NULL,NULL),(37530,'NCBI Gene Summary',NULL,12609,NULL,'This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(37531,'NCBI Gene PubMed Count',NULL,12609,NULL,NULL,NULL,11,NULL,NULL,NULL),(37532,'NCBI Gene PubMed Count',NULL,12610,NULL,NULL,NULL,3,NULL,NULL,NULL),(37533,'NCBI Gene Summary',NULL,12611,NULL,'MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(37534,'NCBI Gene PubMed Count',NULL,12611,NULL,NULL,NULL,25,NULL,NULL,NULL),(37535,'NCBI Gene PubMed Count',NULL,12612,NULL,NULL,NULL,20,NULL,NULL,NULL),(37536,'NCBI Gene PubMed Count',NULL,12613,NULL,NULL,NULL,5,NULL,NULL,NULL),(37537,'NCBI Gene Summary',NULL,12614,NULL,'This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(37538,'NCBI Gene PubMed Count',NULL,12614,NULL,NULL,NULL,64,NULL,NULL,NULL),(37539,'NCBI Gene PubMed Count',NULL,12615,NULL,NULL,NULL,13,NULL,NULL,NULL),(37540,'NCBI Gene Summary',NULL,12616,NULL,'This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5\' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(37541,'NCBI Gene PubMed Count',NULL,12616,NULL,NULL,NULL,15,NULL,NULL,NULL),(37542,'NCBI Gene PubMed Count',NULL,12617,NULL,NULL,NULL,28,NULL,NULL,NULL),(37543,'NCBI Gene PubMed Count',NULL,12618,NULL,NULL,NULL,8,NULL,NULL,NULL),(37544,'NCBI Gene Summary',NULL,12619,NULL,'This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37545,'NCBI Gene PubMed Count',NULL,12619,NULL,NULL,NULL,8,NULL,NULL,NULL),(37546,'NCBI Gene Summary',NULL,12620,NULL,'This gene encodes a member of a family of proteins that are related to methyl-CpG-binding proteins but lack the methyl-CpG binding domain. There is no definitive support for transcription of this locus, and the transcript structure is inferred from other family members. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(37547,'NCBI Gene PubMed Count',NULL,12620,NULL,NULL,NULL,2,NULL,NULL,NULL),(37548,'NCBI Gene Summary',NULL,12621,NULL,'This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(37549,'NCBI Gene PubMed Count',NULL,12621,NULL,NULL,NULL,5,NULL,NULL,NULL),(37550,'NCBI Gene Summary',NULL,12622,NULL,'The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Several alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(37551,'NCBI Gene PubMed Count',NULL,12622,NULL,NULL,NULL,34,NULL,NULL,NULL),(37552,'NCBI Gene Summary',NULL,12623,NULL,'The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson\'s disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(37553,'NCBI Gene PubMed Count',NULL,12623,NULL,NULL,NULL,39,NULL,NULL,NULL),(37554,'NCBI Gene Summary',NULL,12624,NULL,'The protein encoded by this gene is localized in the endoplasmic reticulum (ER) and golgi, and is also secreted. Reducing expression of this gene increases susceptibility to ER stress-induced death and results in cell proliferation. Activity of this protein is important in promoting the survival of dopaminergic neurons. The presence of polymorphisms in the N-terminal arginine-rich region, including a specific mutation that changes an ATG start codon to AGG, have been reported in a variety of solid tumors; however, these polymorphisms were later shown to exist in normal tissues and are thus no longer thought to be tumor-related. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(37555,'NCBI Gene PubMed Count',NULL,12624,NULL,NULL,NULL,37,NULL,NULL,NULL),(37556,'NCBI Gene Summary',NULL,12625,NULL,'This gene encodes a member of the E subfamily of MAGE (melanoma antigen-encoding gene) gene family. The gene is intronless and the encoded protein has two of the MAGE domains which are characteristic of MAGE family proteins. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(37557,'NCBI Gene PubMed Count',NULL,12625,NULL,NULL,NULL,6,NULL,NULL,NULL),(37558,'NCBI Gene Summary',NULL,12626,NULL,'The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(37559,'NCBI Gene PubMed Count',NULL,12626,NULL,NULL,NULL,45,NULL,NULL,NULL),(37560,'NCBI Gene Summary',NULL,12627,NULL,'The protein encoded by this gene is an enzyme found in the outer mitochondrial membrane that reduces N-hydroxylated substrates. The encoded protein uses molybdenum as a cofactor and cytochrome b5 type B and NADH cytochrome b5 reductase as accessory proteins. One type of substrate used is N-hydroxylated nucleotide base analogues, which can be toxic to a cell. Other substrates include N(omega)-hydroxy-L-arginine (NOHA) and amidoxime prodrugs, which are activated by the encoded enzyme. Multiple transcript variants encoding the different isoforms have been found for this gene. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(37561,'NCBI Gene PubMed Count',NULL,12627,NULL,NULL,NULL,30,NULL,NULL,NULL),(37562,'NCBI Gene Summary',NULL,12628,NULL,'This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(37563,'NCBI Gene PubMed Count',NULL,12628,NULL,NULL,NULL,17,NULL,NULL,NULL),(37564,'NCBI Gene Summary',NULL,12629,NULL,'The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37565,'NCBI Gene PubMed Count',NULL,12629,NULL,NULL,NULL,44,NULL,NULL,NULL),(37566,'NCBI Gene PubMed Count',NULL,12630,NULL,NULL,NULL,25,NULL,NULL,NULL),(37567,'NCBI Gene PubMed Count',NULL,12631,NULL,NULL,NULL,3,NULL,NULL,NULL),(37568,'NCBI Gene Summary',NULL,12632,NULL,'Mahogunin (MGRN1) is a C3HC4 RING-containing protein with E3 ubiquitin ligase activity in vitro.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(37569,'NCBI Gene PubMed Count',NULL,12632,NULL,NULL,NULL,26,NULL,NULL,NULL),(37570,'NCBI Gene PubMed Count',NULL,12633,NULL,NULL,NULL,26,NULL,NULL,NULL),(37571,'NCBI Gene Summary',NULL,12634,NULL,'The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(37572,'NCBI Gene PubMed Count',NULL,12634,NULL,NULL,NULL,46,NULL,NULL,NULL),(37573,'NCBI Gene Summary',NULL,12635,NULL,'The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37574,'NCBI Gene PubMed Count',NULL,12635,NULL,NULL,NULL,37,NULL,NULL,NULL),(37575,'NCBI Gene Summary',NULL,12636,NULL,'This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(37576,'NCBI Gene PubMed Count',NULL,12636,NULL,NULL,NULL,12,NULL,NULL,NULL),(37577,'NCBI Gene Summary',NULL,12637,NULL,'The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37578,'NCBI Gene PubMed Count',NULL,12637,NULL,NULL,NULL,29,NULL,NULL,NULL),(37579,'NCBI Gene Summary',NULL,12638,NULL,'The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(37580,'NCBI Gene PubMed Count',NULL,12638,NULL,NULL,NULL,881,NULL,NULL,NULL),(37581,'NCBI Gene Summary',NULL,12639,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(37582,'NCBI Gene PubMed Count',NULL,12639,NULL,NULL,NULL,6,NULL,NULL,NULL),(37583,'NCBI Gene Summary',NULL,12640,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37584,'NCBI Gene PubMed Count',NULL,12640,NULL,NULL,NULL,6,NULL,NULL,NULL),(37585,'NCBI Gene Summary',NULL,12641,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37586,'NCBI Gene PubMed Count',NULL,12641,NULL,NULL,NULL,6,NULL,NULL,NULL),(37587,'NCBI Gene Summary',NULL,12642,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37588,'NCBI Gene PubMed Count',NULL,12642,NULL,NULL,NULL,5,NULL,NULL,NULL),(37589,'NCBI Gene Summary',NULL,12643,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37590,'NCBI Gene PubMed Count',NULL,12643,NULL,NULL,NULL,7,NULL,NULL,NULL),(37591,'NCBI Gene Summary',NULL,12644,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37592,'NCBI Gene PubMed Count',NULL,12644,NULL,NULL,NULL,4,NULL,NULL,NULL),(37593,'NCBI Gene Summary',NULL,12645,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37594,'NCBI Gene PubMed Count',NULL,12645,NULL,NULL,NULL,2,NULL,NULL,NULL),(37595,'NCBI Gene Summary',NULL,12646,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37596,'NCBI Gene PubMed Count',NULL,12646,NULL,NULL,NULL,4,NULL,NULL,NULL),(37597,'NCBI Gene Summary',NULL,12647,NULL,'This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37598,'NCBI Gene PubMed Count',NULL,12647,NULL,NULL,NULL,83,NULL,NULL,NULL),(37599,'NCBI Gene Summary',NULL,12648,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37600,'NCBI Gene PubMed Count',NULL,12648,NULL,NULL,NULL,2,NULL,NULL,NULL),(37601,'NCBI Gene Summary',NULL,12649,NULL,'The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(37602,'NCBI Gene PubMed Count',NULL,12649,NULL,NULL,NULL,73,NULL,NULL,NULL),(37603,'NCBI Gene Summary',NULL,12650,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(37604,'NCBI Gene PubMed Count',NULL,12650,NULL,NULL,NULL,2,NULL,NULL,NULL),(37605,'NCBI Gene Summary',NULL,12651,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37606,'NCBI Gene PubMed Count',NULL,12651,NULL,NULL,NULL,4,NULL,NULL,NULL),(37607,'NCBI Gene Summary',NULL,12652,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37608,'NCBI Gene PubMed Count',NULL,12652,NULL,NULL,NULL,2,NULL,NULL,NULL),(37609,'NCBI Gene PubMed Count',NULL,12653,NULL,NULL,NULL,3,NULL,NULL,NULL),(37610,'NCBI Gene Summary',NULL,12654,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37611,'NCBI Gene PubMed Count',NULL,12654,NULL,NULL,NULL,3,NULL,NULL,NULL),(37612,'NCBI Gene Summary',NULL,12655,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a seven-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(37613,'NCBI Gene PubMed Count',NULL,12655,NULL,NULL,NULL,2,NULL,NULL,NULL),(37614,'NCBI Gene Summary',NULL,12656,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37615,'NCBI Gene PubMed Count',NULL,12656,NULL,NULL,NULL,2,NULL,NULL,NULL),(37616,'NCBI Gene Summary',NULL,12657,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37617,'NCBI Gene PubMed Count',NULL,12657,NULL,NULL,NULL,4,NULL,NULL,NULL),(37618,'NCBI Gene PubMed Count',NULL,12658,NULL,NULL,NULL,18,NULL,NULL,NULL),(37619,'NCBI Gene Summary',NULL,12659,NULL,'The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(37620,'NCBI Gene PubMed Count',NULL,12659,NULL,NULL,NULL,28,NULL,NULL,NULL),(37621,'NCBI Gene PubMed Count',NULL,12660,NULL,NULL,NULL,24,NULL,NULL,NULL),(37622,'NCBI Gene PubMed Count',NULL,12661,NULL,NULL,NULL,17,NULL,NULL,NULL),(37623,'NCBI Gene Summary',NULL,12662,NULL,'The protein encoded by this gene is a deacylase that can convert O-acetyl-ADP-ribose to ADP-ribose and acetate, O-propionyl-ADP-ribose to ADP-ribose and propionate, and O-butyryl-ADP-ribose to ADP-ribose and butyrate. The ADP-ribose product is able to inhibit these reactions through a competitive feedback loop. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(37624,'NCBI Gene PubMed Count',NULL,12662,NULL,NULL,NULL,10,NULL,NULL,NULL),(37625,'NCBI Gene PubMed Count',NULL,12663,NULL,NULL,NULL,25,NULL,NULL,NULL),(37626,'NCBI Gene Summary',NULL,12664,NULL,'This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(37627,'NCBI Gene PubMed Count',NULL,12664,NULL,NULL,NULL,47,NULL,NULL,NULL),(37628,'NCBI Gene PubMed Count',NULL,12665,NULL,NULL,NULL,39,NULL,NULL,NULL),(37629,'NCBI Gene PubMed Count',NULL,12666,NULL,NULL,NULL,8,NULL,NULL,NULL),(37630,'NCBI Gene PubMed Count',NULL,12667,NULL,NULL,NULL,8,NULL,NULL,NULL),(37631,'NCBI Gene PubMed Count',NULL,12668,NULL,NULL,NULL,3,NULL,NULL,NULL),(37632,'NCBI Gene PubMed Count',NULL,12669,NULL,NULL,NULL,13,NULL,NULL,NULL),(37633,'NCBI Gene Summary',NULL,12670,NULL,'This gene encodes a member of the mas-related/sensory neuron specific subfamily of G protein coupled receptors. The encoded protein may be involved in sensory neuron regulation and in the modulation of pain. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(37634,'NCBI Gene PubMed Count',NULL,12670,NULL,NULL,NULL,9,NULL,NULL,NULL),(37635,'NCBI Gene PubMed Count',NULL,12671,NULL,NULL,NULL,6,NULL,NULL,NULL),(37636,'NCBI Gene Summary',NULL,12672,NULL,'This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(37637,'NCBI Gene PubMed Count',NULL,12672,NULL,NULL,NULL,170,NULL,NULL,NULL),(37638,'NCBI Gene PubMed Count',NULL,12673,NULL,NULL,NULL,13,NULL,NULL,NULL),(37639,'NCBI Gene Summary',NULL,12674,NULL,'The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37640,'NCBI Gene PubMed Count',NULL,12674,NULL,NULL,NULL,14,NULL,NULL,NULL),(37641,'NCBI Gene PubMed Count',NULL,12675,NULL,NULL,NULL,4,NULL,NULL,NULL),(37642,'NCBI Gene Summary',NULL,12676,NULL,'This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(37643,'NCBI Gene PubMed Count',NULL,12676,NULL,NULL,NULL,18,NULL,NULL,NULL),(37644,'NCBI Gene Summary',NULL,12677,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37645,'NCBI Gene PubMed Count',NULL,12677,NULL,NULL,NULL,294,NULL,NULL,NULL),(37646,'NCBI Gene Summary',NULL,12678,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37647,'NCBI Gene PubMed Count',NULL,12678,NULL,NULL,NULL,96,NULL,NULL,NULL),(37648,'NCBI Gene Summary',NULL,12679,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(37649,'NCBI Gene PubMed Count',NULL,12679,NULL,NULL,NULL,60,NULL,NULL,NULL),(37650,'NCBI Gene Summary',NULL,12680,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(37651,'NCBI Gene PubMed Count',NULL,12680,NULL,NULL,NULL,30,NULL,NULL,NULL),(37652,'NCBI Gene PubMed Count',NULL,12681,NULL,NULL,NULL,7,NULL,NULL,NULL),(37653,'NCBI Gene Summary',NULL,12682,NULL,'The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer\'s disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(37654,'NCBI Gene PubMed Count',NULL,12682,NULL,NULL,NULL,11,NULL,NULL,NULL),(37655,'NCBI Gene PubMed Count',NULL,12683,NULL,NULL,NULL,3,NULL,NULL,NULL),(37656,'NCBI Gene PubMed Count',NULL,12684,NULL,NULL,NULL,6,NULL,NULL,NULL),(37657,'NCBI Gene PubMed Count',NULL,12685,NULL,NULL,NULL,10,NULL,NULL,NULL),(37658,'NCBI Gene Summary',NULL,12686,NULL,'This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(37659,'NCBI Gene PubMed Count',NULL,12686,NULL,NULL,NULL,306,NULL,NULL,NULL),(37660,'NCBI Gene Summary',NULL,12687,NULL,'The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(37661,'NCBI Gene PubMed Count',NULL,12687,NULL,NULL,NULL,84,NULL,NULL,NULL),(37662,'NCBI Gene Summary',NULL,12688,NULL,'The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(37663,'NCBI Gene PubMed Count',NULL,12688,NULL,NULL,NULL,38,NULL,NULL,NULL),(37664,'NCBI Gene PubMed Count',NULL,12689,NULL,NULL,NULL,23,NULL,NULL,NULL),(37665,'NCBI Gene Summary',NULL,12690,NULL,'The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(37666,'NCBI Gene PubMed Count',NULL,12690,NULL,NULL,NULL,29,NULL,NULL,NULL),(37667,'NCBI Gene Summary',NULL,12691,NULL,'The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(37668,'NCBI Gene PubMed Count',NULL,12691,NULL,NULL,NULL,36,NULL,NULL,NULL),(37669,'NCBI Gene Summary',NULL,12692,NULL,'This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange in SEC4, and to a lesser extent in YPT1 and RAB3A, and may play a general role in vesicular transport. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(37670,'NCBI Gene PubMed Count',NULL,12692,NULL,NULL,NULL,19,NULL,NULL,NULL),(37671,'NCBI Gene PubMed Count',NULL,12693,NULL,NULL,NULL,5,NULL,NULL,NULL),(37672,'NCBI Gene PubMed Count',NULL,12694,NULL,NULL,NULL,7,NULL,NULL,NULL),(37673,'NCBI Gene PubMed Count',NULL,12695,NULL,NULL,NULL,10,NULL,NULL,NULL),(37674,'NCBI Gene PubMed Count',NULL,12696,NULL,NULL,NULL,7,NULL,NULL,NULL),(37675,'NCBI Gene PubMed Count',NULL,12697,NULL,NULL,NULL,5,NULL,NULL,NULL),(37676,'NCBI Gene Summary',NULL,12698,NULL,'This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37677,'NCBI Gene PubMed Count',NULL,12698,NULL,NULL,NULL,27,NULL,NULL,NULL),(37678,'NCBI Gene Summary',NULL,12699,NULL,'The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appear to localize to mitochondria. The encoded protein down-regulates the AKT signaling cascade and can suppress the growth of cervical cancer cells. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(37679,'NCBI Gene PubMed Count',NULL,12699,NULL,NULL,NULL,15,NULL,NULL,NULL),(37680,'NCBI Gene Summary',NULL,12700,NULL,'This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. This gene family member displays tissue-specific expression, and contains a threonine insert near its N-terminus and a glutamate-rich hexapeptide insert near its C-terminus relative to the proteins encoded by other gene family members. It plays an important role in zinc and copper homeostasis, and is induced under hypoxic conditions. The encoded protein is a growth inhibitory factor, and reduced levels of the protein are observed in the brains of individuals with some metal-linked neurodegenerative disorders such as Alzheimer\'s disease. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(37681,'NCBI Gene PubMed Count',NULL,12700,NULL,NULL,NULL,72,NULL,NULL,NULL),(37682,'NCBI Gene PubMed Count',NULL,12701,NULL,NULL,NULL,10,NULL,NULL,NULL),(37683,'NCBI Gene Summary',NULL,12702,NULL,'This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(37684,'NCBI Gene PubMed Count',NULL,12702,NULL,NULL,NULL,565,NULL,NULL,NULL),(37685,'NCBI Gene Summary',NULL,12703,NULL,'This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(37686,'NCBI Gene PubMed Count',NULL,12703,NULL,NULL,NULL,85,NULL,NULL,NULL),(37687,'NCBI Gene Summary',NULL,12704,NULL,'This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37688,'NCBI Gene PubMed Count',NULL,12704,NULL,NULL,NULL,72,NULL,NULL,NULL),(37689,'NCBI Gene Summary',NULL,12705,NULL,'This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(37690,'NCBI Gene PubMed Count',NULL,12705,NULL,NULL,NULL,22,NULL,NULL,NULL),(37691,'NCBI Gene Summary',NULL,12706,NULL,'This gene encodes a member of the SLC25 family of nuclear-encoded transporters that are localized in the inner mitochondrial membrane. Members of this superfamily are involved in many metabolic pathways and cell functions. Genome-wide association studies in human have identified single-nucleotide polymorphisms in several loci associated with obesity. This gene is one such locus, which is highly expressed in white adipose tissue and adipocytes, and thought to play a regulatory role in adipocyte differentiation and biology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target that can produce two isoforms from the same mRNA by use of alternative in-frame translation termination codons. [provided by RefSeq, Dec 2017]',NULL,NULL,NULL,NULL,NULL),(37692,'NCBI Gene PubMed Count',NULL,12706,NULL,NULL,NULL,41,NULL,NULL,NULL),(37693,'NCBI Gene Summary',NULL,12707,NULL,'This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(37694,'NCBI Gene PubMed Count',NULL,12707,NULL,NULL,NULL,16,NULL,NULL,NULL),(37695,'NCBI Gene Summary',NULL,12708,NULL,'This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5\' exon spliced to two different sets of 3\' exons that encode two different proteins. This gene represents the upstream 13 kDa protein that is a member of the TCL1 family. This protein may be involved in leukemogenesis. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(37696,'NCBI Gene PubMed Count',NULL,12708,NULL,NULL,NULL,21,NULL,NULL,NULL),(37697,'NCBI Gene PubMed Count',NULL,12709,NULL,NULL,NULL,6,NULL,NULL,NULL),(37698,'NCBI Gene Summary',NULL,12710,NULL,'This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(37699,'NCBI Gene PubMed Count',NULL,12710,NULL,NULL,NULL,11,NULL,NULL,NULL),(37700,'NCBI Gene Summary',NULL,12711,NULL,'Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(37701,'NCBI Gene PubMed Count',NULL,12711,NULL,NULL,NULL,11,NULL,NULL,NULL),(37702,'NCBI Gene Summary',NULL,12712,NULL,'This gene was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. This gene encodes a member of the olfactomedin family. The encoded protein is an antiapoptotic factor that promotes tumor growth and is an extracellular matrix glycoprotein that facilitates cell adhesion. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(37703,'NCBI Gene PubMed Count',NULL,12712,NULL,NULL,NULL,62,NULL,NULL,NULL),(37704,'NCBI Gene PubMed Count',NULL,12713,NULL,NULL,NULL,24,NULL,NULL,NULL),(37705,'NCBI Gene Summary',NULL,12714,NULL,'This gene encodes an olfactomedin domain-containing protein. Most olfactomedin domain-containing proteins are secreted glycoproteins. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(37706,'NCBI Gene PubMed Count',NULL,12714,NULL,NULL,NULL,8,NULL,NULL,NULL),(37707,'NCBI Gene Summary',NULL,12715,NULL,'The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. The treatment of endothelial cells with this cytokine has been shown to stimulate the production of other cytokines including IL6, IL8 and CSF2/ GM-CSF. The increased expression of IL8 induced by this cytokine was found to be NF-kappa B-dependent. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37708,'NCBI Gene PubMed Count',NULL,12715,NULL,NULL,NULL,12,NULL,NULL,NULL),(37709,'NCBI Gene Summary',NULL,12716,NULL,'This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(37710,'NCBI Gene PubMed Count',NULL,12716,NULL,NULL,NULL,422,NULL,NULL,NULL),(37711,'NCBI Gene Summary',NULL,12717,NULL,'The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37712,'NCBI Gene PubMed Count',NULL,12717,NULL,NULL,NULL,339,NULL,NULL,NULL),(37713,'NCBI Gene Summary',NULL,12718,NULL,'This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(37714,'NCBI Gene PubMed Count',NULL,12718,NULL,NULL,NULL,25,NULL,NULL,NULL),(37715,'NCBI Gene Summary',NULL,12719,NULL,'This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(37716,'NCBI Gene PubMed Count',NULL,12719,NULL,NULL,NULL,26,NULL,NULL,NULL),(37717,'NCBI Gene PubMed Count',NULL,12720,NULL,NULL,NULL,5,NULL,NULL,NULL),(37718,'NCBI Gene PubMed Count',NULL,12721,NULL,NULL,NULL,8,NULL,NULL,NULL),(37719,'NCBI Gene PubMed Count',NULL,12722,NULL,NULL,NULL,3,NULL,NULL,NULL),(37720,'NCBI Gene PubMed Count',NULL,12723,NULL,NULL,NULL,6,NULL,NULL,NULL),(37721,'NCBI Gene PubMed Count',NULL,12724,NULL,NULL,NULL,12,NULL,NULL,NULL),(37722,'NCBI Gene PubMed Count',NULL,12725,NULL,NULL,NULL,5,NULL,NULL,NULL),(37723,'NCBI Gene PubMed Count',NULL,12726,NULL,NULL,NULL,7,NULL,NULL,NULL),(37724,'NCBI Gene Summary',NULL,12727,NULL,'This gene belongs to the IQ motif-containing family of proteins. The IQ motif serves as a binding site for different EF-hand proteins such as calmodulin. This gene was identified as a potential candidate gene for obsessive-compulsive disorder in a genome-wide association study. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(37725,'NCBI Gene PubMed Count',NULL,12727,NULL,NULL,NULL,11,NULL,NULL,NULL),(37726,'NCBI Gene PubMed Count',NULL,12728,NULL,NULL,NULL,1,NULL,NULL,NULL),(37727,'NCBI Gene Summary',NULL,12729,NULL,'The protein encoded by this gene is an RNA-binding protein that acts to regulate iron levels in the cells by regulating the translation and stability of mRNAs that affect iron homeostasis under conditions when iron is depleted. When iron levels are low, this protein binds to iron-responsive elements (IRES), stem-loop structures located either in the 5\' or 3\' UTRs. Binding to the 5\' UTR represses translation, while binding to the 3\' UTR inhibits mRNA degradation. When iron is found in the cell, this protein is degraded in a F-box and leucine rich repeat protein 5-dependent manner. Variants in this gene have been associated with lung cancer and chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(37728,'NCBI Gene PubMed Count',NULL,12729,NULL,NULL,NULL,74,NULL,NULL,NULL),(37729,'NCBI Gene PubMed Count',NULL,12730,NULL,NULL,NULL,5,NULL,NULL,NULL),(37730,'NCBI Gene Summary',NULL,12731,NULL,'This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(37731,'NCBI Gene PubMed Count',NULL,12731,NULL,NULL,NULL,6,NULL,NULL,NULL),(37732,'NCBI Gene Summary',NULL,12732,NULL,'This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(37733,'NCBI Gene PubMed Count',NULL,12732,NULL,NULL,NULL,53,NULL,NULL,NULL),(37734,'NCBI Gene PubMed Count',NULL,12733,NULL,NULL,NULL,6,NULL,NULL,NULL),(37735,'NCBI Gene Summary',NULL,12734,NULL,'The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(37736,'NCBI Gene PubMed Count',NULL,12734,NULL,NULL,NULL,207,NULL,NULL,NULL),(37737,'NCBI Gene Summary',NULL,12735,NULL,'This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box (\'E-box\') binding site (\'CANNTG\') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(37738,'NCBI Gene PubMed Count',NULL,12735,NULL,NULL,NULL,168,NULL,NULL,NULL),(37739,'NCBI Gene PubMed Count',NULL,12736,NULL,NULL,NULL,4,NULL,NULL,NULL),(37740,'NCBI Gene Summary',NULL,12737,NULL,'This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(37741,'NCBI Gene PubMed Count',NULL,12737,NULL,NULL,NULL,21,NULL,NULL,NULL),(37742,'NCBI Gene PubMed Count',NULL,12738,NULL,NULL,NULL,18,NULL,NULL,NULL),(37743,'NCBI Gene Summary',NULL,12739,NULL,'The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(37744,'NCBI Gene PubMed Count',NULL,12739,NULL,NULL,NULL,39,NULL,NULL,NULL),(37745,'NCBI Gene Summary',NULL,12740,NULL,'This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(37746,'NCBI Gene PubMed Count',NULL,12740,NULL,NULL,NULL,40,NULL,NULL,NULL),(37747,'NCBI Gene Summary',NULL,12741,NULL,'Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37748,'NCBI Gene PubMed Count',NULL,12741,NULL,NULL,NULL,222,NULL,NULL,NULL),(37749,'NCBI Gene Summary',NULL,12742,NULL,'This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(37750,'NCBI Gene PubMed Count',NULL,12742,NULL,NULL,NULL,111,NULL,NULL,NULL),(37751,'NCBI Gene Summary',NULL,12743,NULL,'This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37752,'NCBI Gene PubMed Count',NULL,12743,NULL,NULL,NULL,264,NULL,NULL,NULL),(37753,'NCBI Gene Summary',NULL,12744,NULL,'This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(37754,'NCBI Gene PubMed Count',NULL,12744,NULL,NULL,NULL,118,NULL,NULL,NULL),(37755,'NCBI Gene PubMed Count',NULL,12745,NULL,NULL,NULL,19,NULL,NULL,NULL),(37756,'NCBI Gene Summary',NULL,12746,NULL,'This gene encodes a member of a family of large proteins containing PHD (plant homeo domain)-type zinc fingers. The encoded protein may be associated in a nuclear complex that functions in histone H4 acetylation. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(37757,'NCBI Gene PubMed Count',NULL,12746,NULL,NULL,NULL,14,NULL,NULL,NULL),(37758,'NCBI Gene Summary',NULL,12747,NULL,'The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(37759,'NCBI Gene PubMed Count',NULL,12747,NULL,NULL,NULL,14,NULL,NULL,NULL),(37760,'NCBI Gene Summary',NULL,12748,NULL,'This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta and interferon-gamma signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(37761,'NCBI Gene PubMed Count',NULL,12748,NULL,NULL,NULL,262,NULL,NULL,NULL),(37762,'NCBI Gene PubMed Count',NULL,12749,NULL,NULL,NULL,4,NULL,NULL,NULL),(37763,'NCBI Gene PubMed Count',NULL,12750,NULL,NULL,NULL,4,NULL,NULL,NULL),(37764,'NCBI Gene Summary',NULL,12751,NULL,'This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(37765,'NCBI Gene PubMed Count',NULL,12751,NULL,NULL,NULL,37,NULL,NULL,NULL),(37766,'NCBI Gene Summary',NULL,12752,NULL,'This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37767,'NCBI Gene PubMed Count',NULL,12752,NULL,NULL,NULL,90,NULL,NULL,NULL),(37768,'NCBI Gene Summary',NULL,12753,NULL,'This gene encodes an endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema distribution. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(37769,'NCBI Gene PubMed Count',NULL,12753,NULL,NULL,NULL,12,NULL,NULL,NULL),(37770,'NCBI Gene Summary',NULL,12754,NULL,'The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37771,'NCBI Gene PubMed Count',NULL,12754,NULL,NULL,NULL,32,NULL,NULL,NULL),(37772,'NCBI Gene PubMed Count',NULL,12755,NULL,NULL,NULL,6,NULL,NULL,NULL),(37773,'NCBI Gene PubMed Count',NULL,12756,NULL,NULL,NULL,14,NULL,NULL,NULL),(37774,'NCBI Gene Summary',NULL,12757,NULL,'The protein encoded by this intronless gene is a member of the JUN family, and a functional component of the AP1 transcription factor complex. This protein has been proposed to protect cells from p53-dependent senescence and apoptosis. Alternative translation initiation site usage results in the production of different isoforms (PMID:12105216). [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(37775,'NCBI Gene PubMed Count',NULL,12757,NULL,NULL,NULL,95,NULL,NULL,NULL),(37776,'NCBI Gene PubMed Count',NULL,12758,NULL,NULL,NULL,8,NULL,NULL,NULL),(37777,'NCBI Gene Summary',NULL,12759,NULL,'This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(37778,'NCBI Gene PubMed Count',NULL,12759,NULL,NULL,NULL,54,NULL,NULL,NULL),(37779,'NCBI Gene PubMed Count',NULL,12760,NULL,NULL,NULL,1,NULL,NULL,NULL),(37780,'NCBI Gene PubMed Count',NULL,12761,NULL,NULL,NULL,11,NULL,NULL,NULL),(37781,'NCBI Gene PubMed Count',NULL,12762,NULL,NULL,NULL,3,NULL,NULL,NULL),(37782,'NCBI Gene PubMed Count',NULL,12763,NULL,NULL,NULL,5,NULL,NULL,NULL),(37783,'NCBI Gene PubMed Count',NULL,12764,NULL,NULL,NULL,3,NULL,NULL,NULL),(37784,'NCBI Gene PubMed Count',NULL,12765,NULL,NULL,NULL,8,NULL,NULL,NULL),(37785,'NCBI Gene PubMed Count',NULL,12766,NULL,NULL,NULL,5,NULL,NULL,NULL),(37786,'NCBI Gene Summary',NULL,12767,NULL,'The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(37787,'NCBI Gene PubMed Count',NULL,12767,NULL,NULL,NULL,21,NULL,NULL,NULL),(37788,'NCBI Gene PubMed Count',NULL,12768,NULL,NULL,NULL,10,NULL,NULL,NULL),(37789,'NCBI Gene PubMed Count',NULL,12769,NULL,NULL,NULL,4,NULL,NULL,NULL),(37790,'NCBI Gene PubMed Count',NULL,12770,NULL,NULL,NULL,10,NULL,NULL,NULL),(37791,'NCBI Gene Summary',NULL,12771,NULL,'This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37792,'NCBI Gene PubMed Count',NULL,12771,NULL,NULL,NULL,84,NULL,NULL,NULL),(37793,'NCBI Gene Summary',NULL,12772,NULL,'KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37794,'NCBI Gene PubMed Count',NULL,12772,NULL,NULL,NULL,25,NULL,NULL,NULL),(37795,'NCBI Gene Summary',NULL,12773,NULL,'The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37796,'NCBI Gene PubMed Count',NULL,12773,NULL,NULL,NULL,49,NULL,NULL,NULL),(37797,'NCBI Gene Summary',NULL,12774,NULL,'This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37798,'NCBI Gene PubMed Count',NULL,12774,NULL,NULL,NULL,131,NULL,NULL,NULL),(37799,'NCBI Gene Summary',NULL,12775,NULL,'This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(37800,'NCBI Gene PubMed Count',NULL,12775,NULL,NULL,NULL,95,NULL,NULL,NULL),(37801,'NCBI Gene Summary',NULL,12776,NULL,'KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37802,'NCBI Gene PubMed Count',NULL,12776,NULL,NULL,NULL,240,NULL,NULL,NULL),(37803,'NCBI Gene Summary',NULL,12777,NULL,'This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(37804,'NCBI Gene PubMed Count',NULL,12777,NULL,NULL,NULL,39,NULL,NULL,NULL),(37805,'NCBI Gene Summary',NULL,12778,NULL,'The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2018]',NULL,NULL,NULL,NULL,NULL),(37806,'NCBI Gene PubMed Count',NULL,12778,NULL,NULL,NULL,37,NULL,NULL,NULL),(37807,'NCBI Gene PubMed Count',NULL,12779,NULL,NULL,NULL,0,NULL,NULL,NULL),(37808,'NCBI Gene Summary',NULL,12780,NULL,'This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3\' to 5\' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3\' to 5\' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37809,'NCBI Gene PubMed Count',NULL,12780,NULL,NULL,NULL,226,NULL,NULL,NULL),(37810,'NCBI Gene PubMed Count',NULL,12781,NULL,NULL,NULL,13,NULL,NULL,NULL),(37811,'NCBI Gene PubMed Count',NULL,12782,NULL,NULL,NULL,17,NULL,NULL,NULL),(37812,'NCBI Gene PubMed Count',NULL,12783,NULL,NULL,NULL,9,NULL,NULL,NULL),(37813,'NCBI Gene PubMed Count',NULL,12784,NULL,NULL,NULL,8,NULL,NULL,NULL),(37814,'NCBI Gene PubMed Count',NULL,12785,NULL,NULL,NULL,11,NULL,NULL,NULL),(37815,'NCBI Gene PubMed Count',NULL,12786,NULL,NULL,NULL,4,NULL,NULL,NULL),(37816,'NCBI Gene Summary',NULL,12788,NULL,'This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(37817,'NCBI Gene PubMed Count',NULL,12788,NULL,NULL,NULL,88,NULL,NULL,NULL),(37818,'NCBI Gene Summary',NULL,12789,NULL,'This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(37819,'NCBI Gene PubMed Count',NULL,12789,NULL,NULL,NULL,4,NULL,NULL,NULL),(37820,'NCBI Gene PubMed Count',NULL,12790,NULL,NULL,NULL,2,NULL,NULL,NULL),(37821,'NCBI Gene PubMed Count',NULL,12791,NULL,NULL,NULL,5,NULL,NULL,NULL),(37822,'NCBI Gene PubMed Count',NULL,12792,NULL,NULL,NULL,18,NULL,NULL,NULL),(37823,'NCBI Gene Summary',NULL,12793,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(37824,'NCBI Gene PubMed Count',NULL,12793,NULL,NULL,NULL,173,NULL,NULL,NULL),(37825,'NCBI Gene Summary',NULL,12794,NULL,'Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(37826,'NCBI Gene PubMed Count',NULL,12794,NULL,NULL,NULL,7,NULL,NULL,NULL),(37827,'NCBI Gene Summary',NULL,12795,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37828,'NCBI Gene PubMed Count',NULL,12795,NULL,NULL,NULL,119,NULL,NULL,NULL),(37829,'NCBI Gene Summary',NULL,12796,NULL,'The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37830,'NCBI Gene PubMed Count',NULL,12796,NULL,NULL,NULL,41,NULL,NULL,NULL),(37831,'NCBI Gene Summary',NULL,12797,NULL,'This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37832,'NCBI Gene PubMed Count',NULL,12797,NULL,NULL,NULL,12,NULL,NULL,NULL),(37833,'NCBI Gene Summary',NULL,12798,NULL,'The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(37834,'NCBI Gene PubMed Count',NULL,12798,NULL,NULL,NULL,56,NULL,NULL,NULL),(37835,'NCBI Gene PubMed Count',NULL,12799,NULL,NULL,NULL,15,NULL,NULL,NULL),(37836,'NCBI Gene PubMed Count',NULL,12800,NULL,NULL,NULL,2,NULL,NULL,NULL),(37837,'NCBI Gene Summary',NULL,12801,NULL,'This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in mRNA turnover and ribosome assembly. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37838,'NCBI Gene PubMed Count',NULL,12801,NULL,NULL,NULL,15,NULL,NULL,NULL),(37839,'NCBI Gene Summary',NULL,12802,NULL,'ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(37840,'NCBI Gene PubMed Count',NULL,12802,NULL,NULL,NULL,6,NULL,NULL,NULL),(37841,'NCBI Gene PubMed Count',NULL,12803,NULL,NULL,NULL,31,NULL,NULL,NULL),(37842,'NCBI Gene Summary',NULL,12805,NULL,'This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is down-regulated during lymphoid differentiation. This protein is a substrate of cGMP-dependent kinase-1 (PKG1) that can function as a regulator of IP3-induced calcium release. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, and alternative translation start sites, including a non-AUG (CUG) start site, are used. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(37843,'NCBI Gene PubMed Count',NULL,12805,NULL,NULL,NULL,22,NULL,NULL,NULL),(37844,'NCBI Gene Summary',NULL,12806,NULL,'This gene encodes a protein that is localized in the outer dense fibers of the tails of mature sperm. This protein is thought to have some important role in the sperm tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(37845,'NCBI Gene PubMed Count',NULL,12806,NULL,NULL,NULL,8,NULL,NULL,NULL),(37846,'NCBI Gene Summary',NULL,12807,NULL,'This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(37847,'NCBI Gene PubMed Count',NULL,12807,NULL,NULL,NULL,26,NULL,NULL,NULL),(37848,'NCBI Gene PubMed Count',NULL,12808,NULL,NULL,NULL,7,NULL,NULL,NULL),(37849,'NCBI Gene Summary',NULL,12809,NULL,'This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(37850,'NCBI Gene PubMed Count',NULL,12809,NULL,NULL,NULL,39,NULL,NULL,NULL),(37851,'NCBI Gene Summary',NULL,12810,NULL,'This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(37852,'NCBI Gene PubMed Count',NULL,12810,NULL,NULL,NULL,29,NULL,NULL,NULL),(37853,'NCBI Gene Summary',NULL,12811,NULL,'This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(37854,'NCBI Gene PubMed Count',NULL,12811,NULL,NULL,NULL,44,NULL,NULL,NULL),(37855,'NCBI Gene Summary',NULL,12812,NULL,'This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(37856,'NCBI Gene PubMed Count',NULL,12812,NULL,NULL,NULL,38,NULL,NULL,NULL),(37857,'NCBI Gene Summary',NULL,12813,NULL,'This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Expression of this gene has been correlated with the grade of the malignancy and proliferative activity in gliomas and melanomas. A pseudogene for this gene is located on chromosome 11q13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37858,'NCBI Gene PubMed Count',NULL,12813,NULL,NULL,NULL,78,NULL,NULL,NULL),(37859,'NCBI Gene Summary',NULL,12814,NULL,'The protein encoded by this gene is a member of the immunoglobulin binding factor family. It is synthesized by the epithelial cells of the prostate gland and secreted into the seminal plasma. This protein has inhibin-like activity. It may have a role as an autocrine paracrine factor in uterine, breast and other female reproductive tissues. The expression of the encoded protein is found to be decreased in prostate cancer. Two alternatively spliced transcript variants encoding different isoforms are described for this gene. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37860,'NCBI Gene PubMed Count',NULL,12814,NULL,NULL,NULL,95,NULL,NULL,NULL),(37861,'NCBI Gene PubMed Count',NULL,12815,NULL,NULL,NULL,12,NULL,NULL,NULL),(37862,'NCBI Gene Summary',NULL,12816,NULL,'Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37863,'NCBI Gene PubMed Count',NULL,12816,NULL,NULL,NULL,10,NULL,NULL,NULL),(37864,'NCBI Gene PubMed Count',NULL,12817,NULL,NULL,NULL,17,NULL,NULL,NULL),(37865,'NCBI Gene Summary',NULL,12818,NULL,'This gene encodes a member of the beta-microseminoprotein family. Members of this protein family contain ten conserved cysteine residues that form intra-molecular disulfide bonds. The encoded protein may play a role in prostate cancer tumorigenesis. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(37866,'NCBI Gene PubMed Count',NULL,12818,NULL,NULL,NULL,6,NULL,NULL,NULL),(37867,'NCBI Gene PubMed Count',NULL,12819,NULL,NULL,NULL,4,NULL,NULL,NULL),(37868,'NCBI Gene PubMed Count',NULL,12820,NULL,NULL,NULL,9,NULL,NULL,NULL),(37869,'NCBI Gene Summary',NULL,12821,NULL,'This gene encodes a multi-pass membrane protein with a major sperm protein (MSP) domain. The deletion of a similar mouse gene is associated with defective cardiac development and neonatal lethality. Alternate transcriptional splice variants, encoding different isoforms, have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37870,'NCBI Gene PubMed Count',NULL,12821,NULL,NULL,NULL,6,NULL,NULL,NULL),(37871,'NCBI Gene Summary',NULL,12822,NULL,'This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(37872,'NCBI Gene PubMed Count',NULL,12822,NULL,NULL,NULL,64,NULL,NULL,NULL),(37873,'NCBI Gene PubMed Count',NULL,12823,NULL,NULL,NULL,8,NULL,NULL,NULL),(37874,'NCBI Gene PubMed Count',NULL,12824,NULL,NULL,NULL,12,NULL,NULL,NULL),(37875,'NCBI Gene Summary',NULL,12825,NULL,'This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(37876,'NCBI Gene PubMed Count',NULL,12825,NULL,NULL,NULL,63,NULL,NULL,NULL),(37877,'NCBI Gene Summary',NULL,12826,NULL,'This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37878,'NCBI Gene PubMed Count',NULL,12826,NULL,NULL,NULL,137,NULL,NULL,NULL),(37879,'NCBI Gene Summary',NULL,12827,NULL,'This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37880,'NCBI Gene PubMed Count',NULL,12827,NULL,NULL,NULL,82,NULL,NULL,NULL),(37881,'NCBI Gene PubMed Count',NULL,12828,NULL,NULL,NULL,31,NULL,NULL,NULL),(37882,'NCBI Gene Summary',NULL,12829,NULL,'This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. The conserved cysteine residues co-ordinate metal ions using mercaptide linkages. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. Disruption of two metallothionein genes in mouse resulted in defects in protection against heavy metals, oxidative stress, immune reactions, carcinogens, and displayed obesity. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(37883,'NCBI Gene PubMed Count',NULL,12829,NULL,NULL,NULL,77,NULL,NULL,NULL),(37884,'NCBI Gene Summary',NULL,12830,NULL,'This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37885,'NCBI Gene PubMed Count',NULL,12830,NULL,NULL,NULL,8,NULL,NULL,NULL),(37886,'NCBI Gene Summary',NULL,12831,NULL,'This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(37887,'NCBI Gene PubMed Count',NULL,12831,NULL,NULL,NULL,317,NULL,NULL,NULL),(37888,'NCBI Gene PubMed Count',NULL,12832,NULL,NULL,NULL,6,NULL,NULL,NULL),(37889,'NCBI Gene Summary',NULL,12833,NULL,'This gene encodes the only known protein inhibitor of zinc-dependent metallocarboxypeptidases. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(37890,'NCBI Gene PubMed Count',NULL,12833,NULL,NULL,NULL,18,NULL,NULL,NULL),(37891,'NCBI Gene Summary',NULL,12834,NULL,'LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(37892,'NCBI Gene PubMed Count',NULL,12834,NULL,NULL,NULL,11,NULL,NULL,NULL),(37893,'NCBI Gene Summary',NULL,12835,NULL,'LY9 belongs to the SLAM family of immunomodulatory receptors (see SLAMF1; MIM 603492) and interacts with the adaptor molecule SAP (SH2D1A; MIM 300490) (Graham et al., 2006 [PubMed 16365421]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(37894,'NCBI Gene PubMed Count',NULL,12835,NULL,NULL,NULL,30,NULL,NULL,NULL),(37895,'NCBI Gene Summary',NULL,12836,NULL,'This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(37896,'NCBI Gene PubMed Count',NULL,12836,NULL,NULL,NULL,19,NULL,NULL,NULL),(37897,'NCBI Gene PubMed Count',NULL,12837,NULL,NULL,NULL,5,NULL,NULL,NULL),(37898,'NCBI Gene Summary',NULL,12838,NULL,'This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(37899,'NCBI Gene PubMed Count',NULL,12838,NULL,NULL,NULL,22,NULL,NULL,NULL),(37900,'NCBI Gene PubMed Count',NULL,12839,NULL,NULL,NULL,0,NULL,NULL,NULL),(37901,'NCBI Gene Summary',NULL,12840,NULL,'This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37902,'NCBI Gene PubMed Count',NULL,12840,NULL,NULL,NULL,15,NULL,NULL,NULL),(37903,'NCBI Gene Summary',NULL,12841,NULL,'Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37904,'NCBI Gene PubMed Count',NULL,12841,NULL,NULL,NULL,218,NULL,NULL,NULL),(37905,'NCBI Gene PubMed Count',NULL,12842,NULL,NULL,NULL,15,NULL,NULL,NULL),(37906,'NCBI Gene PubMed Count',NULL,12843,NULL,NULL,NULL,6,NULL,NULL,NULL),(37907,'NCBI Gene PubMed Count',NULL,12844,NULL,NULL,NULL,7,NULL,NULL,NULL),(37908,'NCBI Gene Summary',NULL,12845,NULL,'This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37909,'NCBI Gene PubMed Count',NULL,12845,NULL,NULL,NULL,96,NULL,NULL,NULL),(37910,'NCBI Gene Summary',NULL,12846,NULL,'This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37911,'NCBI Gene PubMed Count',NULL,12846,NULL,NULL,NULL,4,NULL,NULL,NULL),(37912,'NCBI Gene Summary',NULL,12847,NULL,'This gene appears to be a retrotransposed pseudogene based on its lack of exons compared to other family members, one of which is found on chromosome 19 (MEIS3). It does appear to be transcribed and has an ORF that may encode a protein of similar size and sequence to that encoded by MEIS3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37913,'NCBI Gene PubMed Count',NULL,12847,NULL,NULL,NULL,4,NULL,NULL,NULL),(37914,'NCBI Gene PubMed Count',NULL,12848,NULL,NULL,NULL,2,NULL,NULL,NULL),(37915,'NCBI Gene Summary',NULL,12849,NULL,'This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37916,'NCBI Gene PubMed Count',NULL,12849,NULL,NULL,NULL,31,NULL,NULL,NULL),(37917,'NCBI Gene Summary',NULL,12850,NULL,'MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(37918,'NCBI Gene PubMed Count',NULL,12850,NULL,NULL,NULL,9,NULL,NULL,NULL),(37919,'NCBI Gene Summary',NULL,12851,NULL,'In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(37920,'NCBI Gene PubMed Count',NULL,12851,NULL,NULL,NULL,47,NULL,NULL,NULL),(37921,'NCBI Gene Summary',NULL,12852,NULL,'This gene encodes a member of the non-histone lysine methyltransferases. It interacts with its substrate, Kin17, which is involved in DNA repair and replication and mRNA processing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(37922,'NCBI Gene PubMed Count',NULL,12852,NULL,NULL,NULL,6,NULL,NULL,NULL),(37923,'NCBI Gene Summary',NULL,12853,NULL,'This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37924,'NCBI Gene PubMed Count',NULL,12853,NULL,NULL,NULL,376,NULL,NULL,NULL),(37925,'NCBI Gene Summary',NULL,12854,NULL,'This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37926,'NCBI Gene PubMed Count',NULL,12854,NULL,NULL,NULL,140,NULL,NULL,NULL),(37927,'NCBI Gene Summary',NULL,12855,NULL,'The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37928,'NCBI Gene PubMed Count',NULL,12855,NULL,NULL,NULL,120,NULL,NULL,NULL),(37929,'NCBI Gene Summary',NULL,12856,NULL,'This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(37930,'NCBI Gene PubMed Count',NULL,12856,NULL,NULL,NULL,80,NULL,NULL,NULL),(37931,'NCBI Gene Summary',NULL,12857,NULL,'This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(37932,'NCBI Gene PubMed Count',NULL,12857,NULL,NULL,NULL,33,NULL,NULL,NULL),(37933,'NCBI Gene Summary',NULL,12858,NULL,'The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(37934,'NCBI Gene PubMed Count',NULL,12858,NULL,NULL,NULL,139,NULL,NULL,NULL),(37935,'NCBI Gene Summary',NULL,12859,NULL,'The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(37936,'NCBI Gene PubMed Count',NULL,12859,NULL,NULL,NULL,269,NULL,NULL,NULL),(37937,'NCBI Gene Summary',NULL,12860,NULL,'This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(37938,'NCBI Gene PubMed Count',NULL,12860,NULL,NULL,NULL,238,NULL,NULL,NULL),(37939,'NCBI Gene Summary',NULL,12861,NULL,'This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37940,'NCBI Gene PubMed Count',NULL,12861,NULL,NULL,NULL,322,NULL,NULL,NULL),(37941,'NCBI Gene Summary',NULL,12862,NULL,'This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37942,'NCBI Gene PubMed Count',NULL,12862,NULL,NULL,NULL,107,NULL,NULL,NULL),(37943,'NCBI Gene Summary',NULL,12863,NULL,'This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(37944,'NCBI Gene PubMed Count',NULL,12863,NULL,NULL,NULL,103,NULL,NULL,NULL),(37945,'NCBI Gene PubMed Count',NULL,12864,NULL,NULL,NULL,10,NULL,NULL,NULL),(37946,'NCBI Gene Summary',NULL,12865,NULL,'This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(37947,'NCBI Gene PubMed Count',NULL,12865,NULL,NULL,NULL,205,NULL,NULL,NULL),(37948,'NCBI Gene Summary',NULL,12866,NULL,'This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37949,'NCBI Gene PubMed Count',NULL,12866,NULL,NULL,NULL,165,NULL,NULL,NULL),(37950,'NCBI Gene PubMed Count',NULL,12867,NULL,NULL,NULL,4,NULL,NULL,NULL),(37951,'NCBI Gene Summary',NULL,12868,NULL,'This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37952,'NCBI Gene PubMed Count',NULL,12868,NULL,NULL,NULL,182,NULL,NULL,NULL),(37953,'NCBI Gene Summary',NULL,12869,NULL,'This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(37954,'NCBI Gene PubMed Count',NULL,12869,NULL,NULL,NULL,22,NULL,NULL,NULL),(37955,'NCBI Gene PubMed Count',NULL,12870,NULL,NULL,NULL,9,NULL,NULL,NULL),(37956,'NCBI Gene PubMed Count',NULL,12871,NULL,NULL,NULL,7,NULL,NULL,NULL),(37957,'NCBI Gene PubMed Count',NULL,12872,NULL,NULL,NULL,26,NULL,NULL,NULL),(37958,'NCBI Gene PubMed Count',NULL,12873,NULL,NULL,NULL,30,NULL,NULL,NULL),(37959,'NCBI Gene Summary',NULL,12874,NULL,'This gene encodes a member of a family of nuclear RNA export proteins. The encoded protein is associated with the nuclear envelope and aids in the export of mRNAs. There is a closely related paralog of this gene located adjacent on chromosome X and on the opposite strand. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(37960,'NCBI Gene PubMed Count',NULL,12874,NULL,NULL,NULL,20,NULL,NULL,NULL),(37961,'NCBI Gene Summary',NULL,12875,NULL,'The protein encoded by this gene belongs to the FAM114 family and may play a role in neuronal cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(37962,'NCBI Gene PubMed Count',NULL,12875,NULL,NULL,NULL,14,NULL,NULL,NULL),(37963,'NCBI Gene Summary',NULL,12876,NULL,'This gene encodes a member of the neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(37964,'NCBI Gene PubMed Count',NULL,12876,NULL,NULL,NULL,8,NULL,NULL,NULL),(37965,'NCBI Gene Summary',NULL,12877,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37966,'NCBI Gene PubMed Count',NULL,12877,NULL,NULL,NULL,4,NULL,NULL,NULL),(37967,'NCBI Gene Summary',NULL,12878,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37968,'NCBI Gene PubMed Count',NULL,12878,NULL,NULL,NULL,3,NULL,NULL,NULL),(37969,'NCBI Gene Summary',NULL,12879,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37970,'NCBI Gene PubMed Count',NULL,12879,NULL,NULL,NULL,4,NULL,NULL,NULL),(37971,'NCBI Gene Summary',NULL,12880,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37972,'NCBI Gene PubMed Count',NULL,12880,NULL,NULL,NULL,2,NULL,NULL,NULL),(37973,'NCBI Gene Summary',NULL,12881,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37974,'NCBI Gene PubMed Count',NULL,12881,NULL,NULL,NULL,1,NULL,NULL,NULL),(37975,'NCBI Gene Summary',NULL,12882,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37976,'NCBI Gene PubMed Count',NULL,12882,NULL,NULL,NULL,4,NULL,NULL,NULL),(37977,'NCBI Gene Summary',NULL,12883,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(37978,'NCBI Gene PubMed Count',NULL,12883,NULL,NULL,NULL,2,NULL,NULL,NULL),(37979,'NCBI Gene Summary',NULL,12884,NULL,'Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Nov 2017]',NULL,NULL,NULL,NULL,NULL),(37980,'NCBI Gene PubMed Count',NULL,12884,NULL,NULL,NULL,28,NULL,NULL,NULL),(37981,'NCBI Gene Summary',NULL,12885,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37982,'NCBI Gene PubMed Count',NULL,12885,NULL,NULL,NULL,5,NULL,NULL,NULL),(37983,'NCBI Gene Summary',NULL,12886,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(37984,'NCBI Gene PubMed Count',NULL,12886,NULL,NULL,NULL,3,NULL,NULL,NULL),(37985,'NCBI Gene Summary',NULL,12887,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37986,'NCBI Gene PubMed Count',NULL,12887,NULL,NULL,NULL,3,NULL,NULL,NULL),(37987,'NCBI Gene Summary',NULL,12888,NULL,'This gene encodes a small peptide hormone that is secreted by cells of the small intestine to regulate gastrointestinal contractions and motility. Proteolytic processing of the secreted protein produces the mature peptide and a byproduct referred to as motilin-associated peptide (MAP). Three transcript variants encoding different preproprotein isoforms but the same mature peptide have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(37988,'NCBI Gene PubMed Count',NULL,12888,NULL,NULL,NULL,31,NULL,NULL,NULL),(37989,'NCBI Gene PubMed Count',NULL,12889,NULL,NULL,NULL,19,NULL,NULL,NULL),(37990,'NCBI Gene PubMed Count',NULL,12890,NULL,NULL,NULL,6,NULL,NULL,NULL),(37991,'NCBI Gene Summary',NULL,12891,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37992,'NCBI Gene PubMed Count',NULL,12891,NULL,NULL,NULL,4,NULL,NULL,NULL),(37993,'NCBI Gene Summary',NULL,12892,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37994,'NCBI Gene PubMed Count',NULL,12892,NULL,NULL,NULL,4,NULL,NULL,NULL),(37995,'NCBI Gene Summary',NULL,12893,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(37996,'NCBI Gene PubMed Count',NULL,12893,NULL,NULL,NULL,10,NULL,NULL,NULL),(37997,'NCBI Gene Summary',NULL,12894,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(37998,'NCBI Gene PubMed Count',NULL,12894,NULL,NULL,NULL,2,NULL,NULL,NULL),(37999,'NCBI Gene PubMed Count',NULL,12895,NULL,NULL,NULL,3,NULL,NULL,NULL),(38000,'NCBI Gene Summary',NULL,12896,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38001,'NCBI Gene PubMed Count',NULL,12896,NULL,NULL,NULL,3,NULL,NULL,NULL),(38002,'NCBI Gene Summary',NULL,12897,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38003,'NCBI Gene PubMed Count',NULL,12897,NULL,NULL,NULL,3,NULL,NULL,NULL),(38004,'NCBI Gene Summary',NULL,12898,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38005,'NCBI Gene PubMed Count',NULL,12898,NULL,NULL,NULL,4,NULL,NULL,NULL),(38006,'NCBI Gene Summary',NULL,12899,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38007,'NCBI Gene PubMed Count',NULL,12899,NULL,NULL,NULL,4,NULL,NULL,NULL),(38008,'NCBI Gene Summary',NULL,12900,NULL,'This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(38009,'NCBI Gene PubMed Count',NULL,12900,NULL,NULL,NULL,140,NULL,NULL,NULL),(38010,'NCBI Gene Summary',NULL,12901,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(38011,'NCBI Gene PubMed Count',NULL,12901,NULL,NULL,NULL,6,NULL,NULL,NULL),(38012,'NCBI Gene Summary',NULL,12902,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38013,'NCBI Gene PubMed Count',NULL,12902,NULL,NULL,NULL,4,NULL,NULL,NULL),(38014,'NCBI Gene Summary',NULL,12903,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(38015,'NCBI Gene PubMed Count',NULL,12903,NULL,NULL,NULL,4,NULL,NULL,NULL),(38016,'NCBI Gene Summary',NULL,12904,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38017,'NCBI Gene PubMed Count',NULL,12904,NULL,NULL,NULL,3,NULL,NULL,NULL),(38018,'NCBI Gene Summary',NULL,12905,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38019,'NCBI Gene PubMed Count',NULL,12905,NULL,NULL,NULL,2,NULL,NULL,NULL),(38020,'NCBI Gene Summary',NULL,12906,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38021,'NCBI Gene PubMed Count',NULL,12906,NULL,NULL,NULL,3,NULL,NULL,NULL),(38022,'NCBI Gene Summary',NULL,12907,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38023,'NCBI Gene PubMed Count',NULL,12907,NULL,NULL,NULL,2,NULL,NULL,NULL),(38024,'NCBI Gene Summary',NULL,12908,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(38025,'NCBI Gene PubMed Count',NULL,12908,NULL,NULL,NULL,2,NULL,NULL,NULL),(38026,'NCBI Gene Summary',NULL,12909,NULL,'The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38027,'NCBI Gene PubMed Count',NULL,12909,NULL,NULL,NULL,26,NULL,NULL,NULL),(38028,'NCBI Gene Summary',NULL,12910,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38029,'NCBI Gene PubMed Count',NULL,12910,NULL,NULL,NULL,5,NULL,NULL,NULL),(38030,'NCBI Gene Summary',NULL,12911,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38031,'NCBI Gene PubMed Count',NULL,12911,NULL,NULL,NULL,4,NULL,NULL,NULL),(38032,'NCBI Gene Summary',NULL,12912,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38033,'NCBI Gene PubMed Count',NULL,12912,NULL,NULL,NULL,5,NULL,NULL,NULL),(38034,'NCBI Gene Summary',NULL,12913,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38035,'NCBI Gene PubMed Count',NULL,12913,NULL,NULL,NULL,3,NULL,NULL,NULL),(38036,'NCBI Gene Summary',NULL,12914,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38037,'NCBI Gene PubMed Count',NULL,12914,NULL,NULL,NULL,2,NULL,NULL,NULL),(38038,'NCBI Gene Summary',NULL,12915,NULL,'The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(38039,'NCBI Gene PubMed Count',NULL,12915,NULL,NULL,NULL,39,NULL,NULL,NULL),(38040,'NCBI Gene Summary',NULL,12916,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38041,'NCBI Gene PubMed Count',NULL,12916,NULL,NULL,NULL,3,NULL,NULL,NULL),(38042,'NCBI Gene Summary',NULL,12917,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38043,'NCBI Gene PubMed Count',NULL,12917,NULL,NULL,NULL,3,NULL,NULL,NULL),(38044,'NCBI Gene Summary',NULL,12918,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38045,'NCBI Gene PubMed Count',NULL,12918,NULL,NULL,NULL,3,NULL,NULL,NULL),(38046,'NCBI Gene Summary',NULL,12919,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38047,'NCBI Gene PubMed Count',NULL,12919,NULL,NULL,NULL,7,NULL,NULL,NULL),(38048,'NCBI Gene Summary',NULL,12920,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38049,'NCBI Gene PubMed Count',NULL,12920,NULL,NULL,NULL,3,NULL,NULL,NULL),(38050,'NCBI Gene Summary',NULL,12921,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(38051,'NCBI Gene PubMed Count',NULL,12921,NULL,NULL,NULL,6,NULL,NULL,NULL),(38052,'NCBI Gene Summary',NULL,12922,NULL,'Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(38053,'NCBI Gene PubMed Count',NULL,12922,NULL,NULL,NULL,18,NULL,NULL,NULL),(38054,'NCBI Gene Summary',NULL,12923,NULL,'The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(38055,'NCBI Gene PubMed Count',NULL,12923,NULL,NULL,NULL,14,NULL,NULL,NULL),(38056,'NCBI Gene Summary',NULL,12924,NULL,' Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs).  MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions.  Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38057,'NCBI Gene PubMed Count',NULL,12924,NULL,NULL,NULL,10,NULL,NULL,NULL),(38058,'NCBI Gene Summary',NULL,12925,NULL,'This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn\'t encode a protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38059,'NCBI Gene PubMed Count',NULL,12925,NULL,NULL,NULL,13,NULL,NULL,NULL),(38060,'NCBI Gene Summary',NULL,12926,NULL,'This gene is induced by interferons and encodes a protein that synthesizes 2\',5\'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(38061,'NCBI Gene PubMed Count',NULL,12926,NULL,NULL,NULL,108,NULL,NULL,NULL),(38062,'NCBI Gene Summary',NULL,12927,NULL,'This gene encodes an enzyme included in the 2\', 5\' oligoadenylate synthase family.  This enzyme is induced by interferons and catalyzes the 2\', 5\' oligomers of adenosine in order to bind and activate RNase L.  This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38063,'NCBI Gene PubMed Count',NULL,12927,NULL,NULL,NULL,37,NULL,NULL,NULL),(38064,'NCBI Gene PubMed Count',NULL,12928,NULL,NULL,NULL,26,NULL,NULL,NULL),(38065,'NCBI Gene Summary',NULL,12929,NULL,'The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs; and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization. Alternatively spliced transcript variants have also been noted for this gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(38066,'NCBI Gene PubMed Count',NULL,12929,NULL,NULL,NULL,38,NULL,NULL,NULL),(38067,'NCBI Gene Summary',NULL,12930,NULL,'The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamines. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 2, the second member of the antizyme family. Like antizyme 1, antizyme 2 has broad tissue distribution, inhibits ODC activity and polyamine uptake, and stimulates ODC degradation in vivo; however, it fails to promote ODC degradation in vitro. Antizyme 2 is expressed at lower levels than antizyme 1, but is evolutionary more conserved, suggesting it likely has an important biological role. Studies also show different subcellular localization of antizymes 1 and 2, indicating specific function for each antizyme in discrete compartments of the cell. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(38068,'NCBI Gene PubMed Count',NULL,12930,NULL,NULL,NULL,15,NULL,NULL,NULL),(38069,'NCBI Gene Summary',NULL,12931,NULL,'This gene encodes a protein that modulates melanocortin receptor signaling. The encoded protein has been shown to interact with all known melanocortin receptors and may regulate both receptor trafficking and activation in response to ligands. Mice lacking a functional copy of this gene exhibit severe obesity and a mutation in this gene may be associated with severe obesity in human patients. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(38070,'NCBI Gene PubMed Count',NULL,12931,NULL,NULL,NULL,21,NULL,NULL,NULL),(38071,'NCBI Gene Summary',NULL,12932,NULL,'This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(38072,'NCBI Gene PubMed Count',NULL,12932,NULL,NULL,NULL,27,NULL,NULL,NULL),(38073,'NCBI Gene PubMed Count',NULL,12933,NULL,NULL,NULL,3,NULL,NULL,NULL),(38074,'NCBI Gene Summary',NULL,12934,NULL,'This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38075,'NCBI Gene PubMed Count',NULL,12934,NULL,NULL,NULL,11,NULL,NULL,NULL),(38076,'NCBI Gene PubMed Count',NULL,12935,NULL,NULL,NULL,8,NULL,NULL,NULL),(38077,'NCBI Gene Summary',NULL,12936,NULL,'The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(38078,'NCBI Gene PubMed Count',NULL,12936,NULL,NULL,NULL,84,NULL,NULL,NULL),(38079,'NCBI Gene Summary',NULL,12937,NULL,'The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38080,'NCBI Gene PubMed Count',NULL,12937,NULL,NULL,NULL,46,NULL,NULL,NULL),(38081,'NCBI Gene PubMed Count',NULL,12938,NULL,NULL,NULL,6,NULL,NULL,NULL),(38082,'NCBI Gene PubMed Count',NULL,12939,NULL,NULL,NULL,11,NULL,NULL,NULL),(38083,'NCBI Gene PubMed Count',NULL,12940,NULL,NULL,NULL,6,NULL,NULL,NULL),(38084,'NCBI Gene Summary',NULL,12941,NULL,'This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(38085,'NCBI Gene PubMed Count',NULL,12941,NULL,NULL,NULL,24,NULL,NULL,NULL),(38086,'NCBI Gene Summary',NULL,12942,NULL,'The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38087,'NCBI Gene PubMed Count',NULL,12942,NULL,NULL,NULL,20,NULL,NULL,NULL),(38088,'NCBI Gene PubMed Count',NULL,12943,NULL,NULL,NULL,16,NULL,NULL,NULL),(38089,'NCBI Gene PubMed Count',NULL,12944,NULL,NULL,NULL,12,NULL,NULL,NULL),(38090,'NCBI Gene PubMed Count',NULL,12945,NULL,NULL,NULL,2,NULL,NULL,NULL),(38091,'NCBI Gene PubMed Count',NULL,12946,NULL,NULL,NULL,18,NULL,NULL,NULL),(38092,'NCBI Gene PubMed Count',NULL,12947,NULL,NULL,NULL,11,NULL,NULL,NULL),(38093,'NCBI Gene Summary',NULL,12948,NULL,'This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(38094,'NCBI Gene PubMed Count',NULL,12948,NULL,NULL,NULL,15,NULL,NULL,NULL),(38095,'NCBI Gene Summary',NULL,12949,NULL,'This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38096,'NCBI Gene PubMed Count',NULL,12949,NULL,NULL,NULL,9,NULL,NULL,NULL),(38097,'NCBI Gene Summary',NULL,12950,NULL,'This gene encodes a cell-surface protein that is similar to CD99. A similar protein in mouse functions as an adhesion molecule during leukocyte extravasation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(38098,'NCBI Gene PubMed Count',NULL,12950,NULL,NULL,NULL,13,NULL,NULL,NULL),(38099,'NCBI Gene Summary',NULL,12951,NULL,'This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(38100,'NCBI Gene PubMed Count',NULL,12951,NULL,NULL,NULL,37,NULL,NULL,NULL),(38101,'NCBI Gene Summary',NULL,12952,NULL,'This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(38102,'NCBI Gene PubMed Count',NULL,12952,NULL,NULL,NULL,69,NULL,NULL,NULL),(38103,'NCBI Gene PubMed Count',NULL,12953,NULL,NULL,NULL,6,NULL,NULL,NULL),(38104,'NCBI Gene Summary',NULL,12954,NULL,'This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer\'s disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(38105,'NCBI Gene PubMed Count',NULL,12954,NULL,NULL,NULL,43,NULL,NULL,NULL),(38106,'NCBI Gene PubMed Count',NULL,12955,NULL,NULL,NULL,5,NULL,NULL,NULL),(38107,'NCBI Gene Summary',NULL,12956,NULL,'Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38108,'NCBI Gene PubMed Count',NULL,12956,NULL,NULL,NULL,421,NULL,NULL,NULL),(38109,'NCBI Gene PubMed Count',NULL,12957,NULL,NULL,NULL,28,NULL,NULL,NULL),(38110,'NCBI Gene Summary',NULL,12958,NULL,'Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes carbonic anhydrase 5B. CA5B, and the related CA5A gene, has its expression localized in the mitochondria though CA5B has a wider tissue distribution than CA5A, which is restricted to the liver, kidneys, and skeletal muscle. A carbonic anhydrase pseudogene (CA5BP1) is adjacent to the CA5B gene and these two loci produce CA5BP1-CA5B readthrough transcripts. [provided by RefSeq, Jan 2019]',NULL,NULL,NULL,NULL,NULL),(38111,'NCBI Gene PubMed Count',NULL,12958,NULL,NULL,NULL,11,NULL,NULL,NULL),(38112,'NCBI Gene Summary',NULL,12959,NULL,'Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(38113,'NCBI Gene PubMed Count',NULL,12959,NULL,NULL,NULL,60,NULL,NULL,NULL),(38114,'NCBI Gene Summary',NULL,12960,NULL,'This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(38115,'NCBI Gene PubMed Count',NULL,12960,NULL,NULL,NULL,41,NULL,NULL,NULL),(38116,'NCBI Gene Summary',NULL,12961,NULL,'This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(38117,'NCBI Gene PubMed Count',NULL,12961,NULL,NULL,NULL,267,NULL,NULL,NULL),(38118,'NCBI Gene PubMed Count',NULL,12962,NULL,NULL,NULL,8,NULL,NULL,NULL),(38119,'NCBI Gene PubMed Count',NULL,12963,NULL,NULL,NULL,0,NULL,NULL,NULL),(38120,'NCBI Gene PubMed Count',NULL,12964,NULL,NULL,NULL,3,NULL,NULL,NULL),(38121,'NCBI Gene Summary',NULL,12965,NULL,'Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38122,'NCBI Gene PubMed Count',NULL,12965,NULL,NULL,NULL,29,NULL,NULL,NULL),(38123,'NCBI Gene PubMed Count',NULL,12966,NULL,NULL,NULL,10,NULL,NULL,NULL),(38124,'NCBI Gene Summary',NULL,12967,NULL,'The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38125,'NCBI Gene PubMed Count',NULL,12967,NULL,NULL,NULL,42,NULL,NULL,NULL),(38126,'NCBI Gene PubMed Count',NULL,12968,NULL,NULL,NULL,52,NULL,NULL,NULL),(38127,'NCBI Gene PubMed Count',NULL,12969,NULL,NULL,NULL,3,NULL,NULL,NULL),(38128,'NCBI Gene Summary',NULL,12970,NULL,'This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(38129,'NCBI Gene PubMed Count',NULL,12970,NULL,NULL,NULL,14,NULL,NULL,NULL),(38130,'NCBI Gene PubMed Count',NULL,12971,NULL,NULL,NULL,2,NULL,NULL,NULL),(38131,'NCBI Gene PubMed Count',NULL,12972,NULL,NULL,NULL,37,NULL,NULL,NULL),(38132,'NCBI Gene Summary',NULL,12973,NULL,'This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38133,'NCBI Gene PubMed Count',NULL,12973,NULL,NULL,NULL,16,NULL,NULL,NULL),(38134,'NCBI Gene PubMed Count',NULL,12974,NULL,NULL,NULL,6,NULL,NULL,NULL),(38135,'NCBI Gene PubMed Count',NULL,12975,NULL,NULL,NULL,11,NULL,NULL,NULL),(38136,'NCBI Gene PubMed Count',NULL,12976,NULL,NULL,NULL,7,NULL,NULL,NULL),(38137,'NCBI Gene PubMed Count',NULL,12977,NULL,NULL,NULL,7,NULL,NULL,NULL),(38138,'NCBI Gene PubMed Count',NULL,12978,NULL,NULL,NULL,14,NULL,NULL,NULL),(38139,'NCBI Gene PubMed Count',NULL,12979,NULL,NULL,NULL,4,NULL,NULL,NULL),(38140,'NCBI Gene PubMed Count',NULL,12980,NULL,NULL,NULL,5,NULL,NULL,NULL),(38141,'NCBI Gene Summary',NULL,12981,NULL,'The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(38142,'NCBI Gene PubMed Count',NULL,12981,NULL,NULL,NULL,15,NULL,NULL,NULL),(38143,'NCBI Gene Summary',NULL,12982,NULL,'The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38144,'NCBI Gene PubMed Count',NULL,12982,NULL,NULL,NULL,85,NULL,NULL,NULL),(38145,'NCBI Gene Summary',NULL,12983,NULL,'The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as positive regulators of cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle. Different cyclins exhibit distinct expression and degradation patterns, which contribute to the temporal coordination of each mitotic event. Studies of similar genes in chicken and drosophila suggest that this cyclin may associate with CDC2 and CDK2 kinases, and may be required for proper spindle reorganization and restoration of the interphase nucleus. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(38146,'NCBI Gene PubMed Count',NULL,12983,NULL,NULL,NULL,24,NULL,NULL,NULL),(38147,'NCBI Gene PubMed Count',NULL,12984,NULL,NULL,NULL,5,NULL,NULL,NULL),(38148,'NCBI Gene Summary',NULL,12985,NULL,'The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38149,'NCBI Gene PubMed Count',NULL,12985,NULL,NULL,NULL,96,NULL,NULL,NULL),(38150,'NCBI Gene PubMed Count',NULL,12986,NULL,NULL,NULL,1,NULL,NULL,NULL),(38151,'NCBI Gene Summary',NULL,12987,NULL,'Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38152,'NCBI Gene PubMed Count',NULL,12987,NULL,NULL,NULL,27,NULL,NULL,NULL),(38153,'NCBI Gene Summary',NULL,12988,NULL,'This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(38154,'NCBI Gene PubMed Count',NULL,12988,NULL,NULL,NULL,20,NULL,NULL,NULL),(38155,'NCBI Gene Summary',NULL,12989,NULL,'This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]',NULL,NULL,NULL,NULL,NULL),(38156,'NCBI Gene PubMed Count',NULL,12989,NULL,NULL,NULL,49,NULL,NULL,NULL),(38157,'NCBI Gene Summary',NULL,12990,NULL,'The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38158,'NCBI Gene PubMed Count',NULL,12990,NULL,NULL,NULL,132,NULL,NULL,NULL),(38159,'NCBI Gene PubMed Count',NULL,12991,NULL,NULL,NULL,8,NULL,NULL,NULL),(38160,'NCBI Gene PubMed Count',NULL,12992,NULL,NULL,NULL,5,NULL,NULL,NULL),(38161,'NCBI Gene PubMed Count',NULL,12993,NULL,NULL,NULL,2,NULL,NULL,NULL),(38162,'NCBI Gene Summary',NULL,12994,NULL,'Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(38163,'NCBI Gene PubMed Count',NULL,12994,NULL,NULL,NULL,21,NULL,NULL,NULL),(38164,'NCBI Gene PubMed Count',NULL,12995,NULL,NULL,NULL,4,NULL,NULL,NULL),(38165,'NCBI Gene Summary',NULL,12996,NULL,'This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(38166,'NCBI Gene PubMed Count',NULL,12996,NULL,NULL,NULL,8,NULL,NULL,NULL),(38167,'NCBI Gene Summary',NULL,12997,NULL,'This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(38168,'NCBI Gene PubMed Count',NULL,12997,NULL,NULL,NULL,42,NULL,NULL,NULL),(38169,'NCBI Gene Summary',NULL,12998,NULL,'This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(38170,'NCBI Gene PubMed Count',NULL,12998,NULL,NULL,NULL,57,NULL,NULL,NULL),(38171,'NCBI Gene Summary',NULL,12999,NULL,'This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(38172,'NCBI Gene PubMed Count',NULL,12999,NULL,NULL,NULL,1736,NULL,NULL,NULL),(38173,'NCBI Gene Summary',NULL,13000,NULL,'Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(38174,'NCBI Gene PubMed Count',NULL,13000,NULL,NULL,NULL,60,NULL,NULL,NULL),(38175,'NCBI Gene PubMed Count',NULL,13001,NULL,NULL,NULL,10,NULL,NULL,NULL),(38176,'NCBI Gene PubMed Count',NULL,13002,NULL,NULL,NULL,6,NULL,NULL,NULL),(38177,'NCBI Gene Summary',NULL,13003,NULL,'The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38178,'NCBI Gene PubMed Count',NULL,13003,NULL,NULL,NULL,27,NULL,NULL,NULL),(38179,'NCBI Gene PubMed Count',NULL,13004,NULL,NULL,NULL,8,NULL,NULL,NULL),(38180,'NCBI Gene PubMed Count',NULL,13005,NULL,NULL,NULL,26,NULL,NULL,NULL),(38181,'NCBI Gene PubMed Count',NULL,13006,NULL,NULL,NULL,6,NULL,NULL,NULL),(38182,'NCBI Gene Summary',NULL,13007,NULL,'This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer\'s disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(38183,'NCBI Gene PubMed Count',NULL,13007,NULL,NULL,NULL,298,NULL,NULL,NULL),(38184,'NCBI Gene Summary',NULL,13008,NULL,'Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(38185,'NCBI Gene PubMed Count',NULL,13008,NULL,NULL,NULL,8,NULL,NULL,NULL),(38186,'NCBI Gene PubMed Count',NULL,13009,NULL,NULL,NULL,6,NULL,NULL,NULL),(38187,'NCBI Gene PubMed Count',NULL,13010,NULL,NULL,NULL,3,NULL,NULL,NULL),(38188,'NCBI Gene PubMed Count',NULL,13011,NULL,NULL,NULL,3,NULL,NULL,NULL),(38189,'NCBI Gene Summary',NULL,13012,NULL,'This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38190,'NCBI Gene PubMed Count',NULL,13012,NULL,NULL,NULL,93,NULL,NULL,NULL),(38191,'NCBI Gene Summary',NULL,13013,NULL,'This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38192,'NCBI Gene PubMed Count',NULL,13013,NULL,NULL,NULL,11,NULL,NULL,NULL),(38193,'NCBI Gene Summary',NULL,13014,NULL,'The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(38194,'NCBI Gene PubMed Count',NULL,13014,NULL,NULL,NULL,50,NULL,NULL,NULL),(38195,'NCBI Gene PubMed Count',NULL,13015,NULL,NULL,NULL,6,NULL,NULL,NULL),(38196,'NCBI Gene PubMed Count',NULL,13016,NULL,NULL,NULL,15,NULL,NULL,NULL),(38197,'NCBI Gene Summary',NULL,13017,NULL,'CD160 is an 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD160 shows a broad specificity for binding to both classical and nonclassical MHC class I molecules. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38198,'NCBI Gene PubMed Count',NULL,13017,NULL,NULL,NULL,38,NULL,NULL,NULL),(38199,'NCBI Gene Summary',NULL,13018,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38200,'NCBI Gene PubMed Count',NULL,13018,NULL,NULL,NULL,330,NULL,NULL,NULL),(38201,'NCBI Gene Summary',NULL,13019,NULL,'The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(38202,'NCBI Gene PubMed Count',NULL,13019,NULL,NULL,NULL,52,NULL,NULL,NULL),(38203,'NCBI Gene PubMed Count',NULL,13020,NULL,NULL,NULL,7,NULL,NULL,NULL),(38204,'NCBI Gene PubMed Count',NULL,13021,NULL,NULL,NULL,5,NULL,NULL,NULL),(38205,'NCBI Gene Summary',NULL,13022,NULL,'This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(38206,'NCBI Gene PubMed Count',NULL,13022,NULL,NULL,NULL,123,NULL,NULL,NULL),(38207,'NCBI Gene Summary',NULL,13023,NULL,'This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38208,'NCBI Gene PubMed Count',NULL,13023,NULL,NULL,NULL,39,NULL,NULL,NULL),(38209,'NCBI Gene Summary',NULL,13024,NULL,'This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5\'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(38210,'NCBI Gene PubMed Count',NULL,13024,NULL,NULL,NULL,41,NULL,NULL,NULL),(38211,'NCBI Gene PubMed Count',NULL,13025,NULL,NULL,NULL,37,NULL,NULL,NULL),(38212,'NCBI Gene PubMed Count',NULL,13026,NULL,NULL,NULL,5,NULL,NULL,NULL),(38213,'NCBI Gene Summary',NULL,13027,NULL,'The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38214,'NCBI Gene PubMed Count',NULL,13027,NULL,NULL,NULL,41,NULL,NULL,NULL),(38215,'NCBI Gene Summary',NULL,13028,NULL,'This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(38216,'NCBI Gene PubMed Count',NULL,13028,NULL,NULL,NULL,47,NULL,NULL,NULL),(38217,'NCBI Gene PubMed Count',NULL,13029,NULL,NULL,NULL,6,NULL,NULL,NULL),(38218,'NCBI Gene PubMed Count',NULL,13030,NULL,NULL,NULL,9,NULL,NULL,NULL),(38219,'NCBI Gene PubMed Count',NULL,13031,NULL,NULL,NULL,7,NULL,NULL,NULL),(38220,'NCBI Gene PubMed Count',NULL,13032,NULL,NULL,NULL,22,NULL,NULL,NULL),(38221,'NCBI Gene PubMed Count',NULL,13033,NULL,NULL,NULL,7,NULL,NULL,NULL),(38222,'NCBI Gene Summary',NULL,13034,NULL,'Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38223,'NCBI Gene PubMed Count',NULL,13034,NULL,NULL,NULL,118,NULL,NULL,NULL),(38224,'NCBI Gene Summary',NULL,13035,NULL,'The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(38225,'NCBI Gene PubMed Count',NULL,13035,NULL,NULL,NULL,121,NULL,NULL,NULL),(38226,'NCBI Gene PubMed Count',NULL,13036,NULL,NULL,NULL,13,NULL,NULL,NULL),(38227,'NCBI Gene PubMed Count',NULL,13037,NULL,NULL,NULL,2,NULL,NULL,NULL),(38228,'NCBI Gene PubMed Count',NULL,13038,NULL,NULL,NULL,6,NULL,NULL,NULL),(38229,'NCBI Gene PubMed Count',NULL,13039,NULL,NULL,NULL,10,NULL,NULL,NULL),(38230,'NCBI Gene Summary',NULL,13040,NULL,'This gene encodes a protein that contains the CHROMO (CHRomatin Organization MOdifier) domain. The encoded protein is a component of the Polycomb repressive complex 1 (PRC1), and is thought to control the lifespan of several normal human cells. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(38231,'NCBI Gene PubMed Count',NULL,13040,NULL,NULL,NULL,44,NULL,NULL,NULL),(38232,'NCBI Gene PubMed Count',NULL,13041,NULL,NULL,NULL,0,NULL,NULL,NULL),(38233,'NCBI Gene PubMed Count',NULL,13042,NULL,NULL,NULL,1,NULL,NULL,NULL),(38234,'NCBI Gene Summary',NULL,13043,NULL,'Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication in vitro. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38235,'NCBI Gene PubMed Count',NULL,13043,NULL,NULL,NULL,16,NULL,NULL,NULL),(38236,'NCBI Gene PubMed Count',NULL,13044,NULL,NULL,NULL,8,NULL,NULL,NULL),(38237,'NCBI Gene PubMed Count',NULL,13045,NULL,NULL,NULL,3,NULL,NULL,NULL),(38238,'NCBI Gene Summary',NULL,13046,NULL,'This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(38239,'NCBI Gene PubMed Count',NULL,13046,NULL,NULL,NULL,20,NULL,NULL,NULL),(38240,'NCBI Gene PubMed Count',NULL,13047,NULL,NULL,NULL,4,NULL,NULL,NULL),(38241,'NCBI Gene PubMed Count',NULL,13048,NULL,NULL,NULL,4,NULL,NULL,NULL),(38242,'NCBI Gene PubMed Count',NULL,13049,NULL,NULL,NULL,2,NULL,NULL,NULL),(38243,'NCBI Gene PubMed Count',NULL,13050,NULL,NULL,NULL,4,NULL,NULL,NULL),(38244,'NCBI Gene Summary',NULL,13051,NULL,'The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(38245,'NCBI Gene PubMed Count',NULL,13051,NULL,NULL,NULL,9,NULL,NULL,NULL),(38246,'NCBI Gene PubMed Count',NULL,13052,NULL,NULL,NULL,5,NULL,NULL,NULL),(38247,'NCBI Gene Summary',NULL,13053,NULL,'This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(38248,'NCBI Gene PubMed Count',NULL,13053,NULL,NULL,NULL,61,NULL,NULL,NULL),(38249,'NCBI Gene PubMed Count',NULL,13054,NULL,NULL,NULL,9,NULL,NULL,NULL),(38250,'NCBI Gene Summary',NULL,13055,NULL,'The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38251,'NCBI Gene PubMed Count',NULL,13055,NULL,NULL,NULL,68,NULL,NULL,NULL),(38252,'NCBI Gene PubMed Count',NULL,13056,NULL,NULL,NULL,4,NULL,NULL,NULL),(38253,'NCBI Gene PubMed Count',NULL,13057,NULL,NULL,NULL,5,NULL,NULL,NULL),(38254,'NCBI Gene PubMed Count',NULL,13058,NULL,NULL,NULL,3,NULL,NULL,NULL),(38255,'NCBI Gene PubMed Count',NULL,13059,NULL,NULL,NULL,0,NULL,NULL,NULL),(38256,'NCBI Gene Summary',NULL,13060,NULL,'This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acyl-CoA/CoA. It is found in both the mitochondria and the peroxisome. Alternative splicing results in transcript variants encoding different isoforms that may localize to different subcellular compartments. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(38257,'NCBI Gene PubMed Count',NULL,13060,NULL,NULL,NULL,33,NULL,NULL,NULL),(38258,'NCBI Gene Summary',NULL,13061,NULL,'This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein\'s homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is predominantly expressed in brain and is putatively involved in synaptic adhesions, axon outgrowth and guidance. Mutations in this gene may be associated with lung squamous cell carcinoma and colorectal cancer in human patients. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(38259,'NCBI Gene PubMed Count',NULL,13061,NULL,NULL,NULL,22,NULL,NULL,NULL),(38260,'NCBI Gene Summary',NULL,13062,NULL,'Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(38261,'NCBI Gene PubMed Count',NULL,13062,NULL,NULL,NULL,55,NULL,NULL,NULL),(38262,'NCBI Gene Summary',NULL,13063,NULL,'This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(38263,'NCBI Gene PubMed Count',NULL,13063,NULL,NULL,NULL,28,NULL,NULL,NULL),(38264,'NCBI Gene PubMed Count',NULL,13064,NULL,NULL,NULL,1,NULL,NULL,NULL),(38265,'NCBI Gene Summary',NULL,13065,NULL,'This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38266,'NCBI Gene PubMed Count',NULL,13065,NULL,NULL,NULL,22,NULL,NULL,NULL),(38267,'NCBI Gene PubMed Count',NULL,13066,NULL,NULL,NULL,14,NULL,NULL,NULL),(38268,'NCBI Gene Summary',NULL,13067,NULL,'Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(38269,'NCBI Gene PubMed Count',NULL,13067,NULL,NULL,NULL,9,NULL,NULL,NULL),(38270,'NCBI Gene Summary',NULL,13068,NULL,'This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(38271,'NCBI Gene PubMed Count',NULL,13068,NULL,NULL,NULL,26,NULL,NULL,NULL),(38272,'NCBI Gene Summary',NULL,13069,NULL,'This gene encodes a member of the cadherin protein family. Cadherins are a family of calcium-dependent adhesion molecules that mediate cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization, migration and differentiation. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This protein is expressed in gastrointestinal epithelial cells and may be upregulated during allergic inflammation. This protein interacts with alpha integrins and may also be involved in leukocyte migration and adhesion. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(38273,'NCBI Gene PubMed Count',NULL,13069,NULL,NULL,NULL,9,NULL,NULL,NULL),(38274,'NCBI Gene Summary',NULL,13070,NULL,'Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(38275,'NCBI Gene PubMed Count',NULL,13070,NULL,NULL,NULL,75,NULL,NULL,NULL),(38276,'NCBI Gene Summary',NULL,13071,NULL,'This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38277,'NCBI Gene PubMed Count',NULL,13071,NULL,NULL,NULL,25,NULL,NULL,NULL),(38278,'NCBI Gene Summary',NULL,13072,NULL,'This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(38279,'NCBI Gene PubMed Count',NULL,13072,NULL,NULL,NULL,290,NULL,NULL,NULL),(38280,'NCBI Gene Summary',NULL,13073,NULL,'This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(38281,'NCBI Gene PubMed Count',NULL,13073,NULL,NULL,NULL,287,NULL,NULL,NULL),(38282,'NCBI Gene Summary',NULL,13074,NULL,'Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(38283,'NCBI Gene PubMed Count',NULL,13074,NULL,NULL,NULL,44,NULL,NULL,NULL),(38284,'NCBI Gene Summary',NULL,13075,NULL,'Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(38285,'NCBI Gene PubMed Count',NULL,13075,NULL,NULL,NULL,18,NULL,NULL,NULL),(38286,'NCBI Gene Summary',NULL,13076,NULL,'The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(38287,'NCBI Gene PubMed Count',NULL,13076,NULL,NULL,NULL,11,NULL,NULL,NULL),(38288,'NCBI Gene Summary',NULL,13077,NULL,'This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(38289,'NCBI Gene PubMed Count',NULL,13077,NULL,NULL,NULL,48,NULL,NULL,NULL),(38290,'NCBI Gene PubMed Count',NULL,13078,NULL,NULL,NULL,13,NULL,NULL,NULL),(38291,'NCBI Gene PubMed Count',NULL,13079,NULL,NULL,NULL,4,NULL,NULL,NULL),(38292,'NCBI Gene PubMed Count',NULL,13080,NULL,NULL,NULL,11,NULL,NULL,NULL),(38293,'NCBI Gene PubMed Count',NULL,13081,NULL,NULL,NULL,21,NULL,NULL,NULL),(38294,'NCBI Gene Summary',NULL,13082,NULL,'The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(38295,'NCBI Gene PubMed Count',NULL,13082,NULL,NULL,NULL,29,NULL,NULL,NULL),(38296,'NCBI Gene Summary',NULL,13083,NULL,'This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer\'s disease. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(38297,'NCBI Gene PubMed Count',NULL,13083,NULL,NULL,NULL,261,NULL,NULL,NULL),(38298,'NCBI Gene Summary',NULL,13084,NULL,'The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38299,'NCBI Gene PubMed Count',NULL,13084,NULL,NULL,NULL,25,NULL,NULL,NULL),(38300,'NCBI Gene Summary',NULL,13085,NULL,'This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(38301,'NCBI Gene PubMed Count',NULL,13085,NULL,NULL,NULL,89,NULL,NULL,NULL),(38302,'NCBI Gene Summary',NULL,13086,NULL,'Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38303,'NCBI Gene PubMed Count',NULL,13086,NULL,NULL,NULL,14,NULL,NULL,NULL),(38304,'NCBI Gene PubMed Count',NULL,13087,NULL,NULL,NULL,67,NULL,NULL,NULL),(38305,'NCBI Gene Summary',NULL,13088,NULL,'The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5\' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(38306,'NCBI Gene PubMed Count',NULL,13088,NULL,NULL,NULL,122,NULL,NULL,NULL),(38307,'NCBI Gene Summary',NULL,13089,NULL,'The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(38308,'NCBI Gene PubMed Count',NULL,13089,NULL,NULL,NULL,47,NULL,NULL,NULL),(38309,'NCBI Gene PubMed Count',NULL,13090,NULL,NULL,NULL,17,NULL,NULL,NULL),(38310,'NCBI Gene Summary',NULL,13091,NULL,'This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(38311,'NCBI Gene PubMed Count',NULL,13091,NULL,NULL,NULL,12,NULL,NULL,NULL),(38312,'NCBI Gene PubMed Count',NULL,13092,NULL,NULL,NULL,7,NULL,NULL,NULL),(38313,'NCBI Gene Summary',NULL,13093,NULL,'This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38314,'NCBI Gene PubMed Count',NULL,13093,NULL,NULL,NULL,117,NULL,NULL,NULL),(38315,'NCBI Gene Summary',NULL,13094,NULL,'Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(38316,'NCBI Gene PubMed Count',NULL,13094,NULL,NULL,NULL,35,NULL,NULL,NULL),(38317,'NCBI Gene PubMed Count',NULL,13095,NULL,NULL,NULL,5,NULL,NULL,NULL),(38318,'NCBI Gene PubMed Count',NULL,13096,NULL,NULL,NULL,4,NULL,NULL,NULL),(38319,'NCBI Gene Summary',NULL,13097,NULL,'The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(38320,'NCBI Gene PubMed Count',NULL,13097,NULL,NULL,NULL,433,NULL,NULL,NULL),(38321,'NCBI Gene Summary',NULL,13098,NULL,'This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(38322,'NCBI Gene PubMed Count',NULL,13098,NULL,NULL,NULL,26,NULL,NULL,NULL),(38323,'NCBI Gene PubMed Count',NULL,13099,NULL,NULL,NULL,6,NULL,NULL,NULL),(38324,'NCBI Gene Summary',NULL,13100,NULL,'This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(38325,'NCBI Gene PubMed Count',NULL,13100,NULL,NULL,NULL,11,NULL,NULL,NULL),(38326,'NCBI Gene PubMed Count',NULL,13101,NULL,NULL,NULL,5,NULL,NULL,NULL),(38327,'NCBI Gene PubMed Count',NULL,13102,NULL,NULL,NULL,21,NULL,NULL,NULL),(38328,'NCBI Gene Summary',NULL,13103,NULL,'This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(38329,'NCBI Gene PubMed Count',NULL,13103,NULL,NULL,NULL,5,NULL,NULL,NULL),(38330,'NCBI Gene PubMed Count',NULL,13104,NULL,NULL,NULL,9,NULL,NULL,NULL),(38331,'NCBI Gene Summary',NULL,13105,NULL,'The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(38332,'NCBI Gene PubMed Count',NULL,13105,NULL,NULL,NULL,336,NULL,NULL,NULL),(38333,'NCBI Gene PubMed Count',NULL,13106,NULL,NULL,NULL,9,NULL,NULL,NULL),(38334,'NCBI Gene PubMed Count',NULL,13107,NULL,NULL,NULL,3,NULL,NULL,NULL),(38335,'NCBI Gene PubMed Count',NULL,13108,NULL,NULL,NULL,6,NULL,NULL,NULL),(38336,'NCBI Gene PubMed Count',NULL,13109,NULL,NULL,NULL,1,NULL,NULL,NULL),(38337,'NCBI Gene PubMed Count',NULL,13110,NULL,NULL,NULL,85,NULL,NULL,NULL),(38338,'NCBI Gene PubMed Count',NULL,13111,NULL,NULL,NULL,9,NULL,NULL,NULL),(38339,'NCBI Gene PubMed Count',NULL,13112,NULL,NULL,NULL,5,NULL,NULL,NULL),(38340,'NCBI Gene Summary',NULL,13113,NULL,'This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(38341,'NCBI Gene PubMed Count',NULL,13113,NULL,NULL,NULL,24,NULL,NULL,NULL),(38342,'NCBI Gene Summary',NULL,13114,NULL,'This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(38343,'NCBI Gene PubMed Count',NULL,13114,NULL,NULL,NULL,63,NULL,NULL,NULL),(38344,'NCBI Gene PubMed Count',NULL,13115,NULL,NULL,NULL,5,NULL,NULL,NULL),(38345,'NCBI Gene PubMed Count',NULL,13116,NULL,NULL,NULL,3,NULL,NULL,NULL),(38346,'NCBI Gene PubMed Count',NULL,13117,NULL,NULL,NULL,4,NULL,NULL,NULL),(38347,'NCBI Gene PubMed Count',NULL,13118,NULL,NULL,NULL,16,NULL,NULL,NULL),(38348,'NCBI Gene PubMed Count',NULL,13119,NULL,NULL,NULL,6,NULL,NULL,NULL),(38349,'NCBI Gene PubMed Count',NULL,13120,NULL,NULL,NULL,0,NULL,NULL,NULL),(38350,'NCBI Gene PubMed Count',NULL,13121,NULL,NULL,NULL,3,NULL,NULL,NULL),(38351,'NCBI Gene Summary',NULL,13122,NULL,'This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38352,'NCBI Gene PubMed Count',NULL,13122,NULL,NULL,NULL,22,NULL,NULL,NULL),(38353,'NCBI Gene PubMed Count',NULL,13123,NULL,NULL,NULL,4,NULL,NULL,NULL),(38354,'NCBI Gene Summary',NULL,13124,NULL,'This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38355,'NCBI Gene PubMed Count',NULL,13124,NULL,NULL,NULL,70,NULL,NULL,NULL),(38356,'NCBI Gene Summary',NULL,13125,NULL,'This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(38357,'NCBI Gene PubMed Count',NULL,13125,NULL,NULL,NULL,23,NULL,NULL,NULL),(38358,'NCBI Gene Summary',NULL,13126,NULL,'This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(38359,'NCBI Gene PubMed Count',NULL,13126,NULL,NULL,NULL,69,NULL,NULL,NULL),(38360,'NCBI Gene Summary',NULL,13127,NULL,'This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(38361,'NCBI Gene PubMed Count',NULL,13127,NULL,NULL,NULL,44,NULL,NULL,NULL),(38362,'NCBI Gene Summary',NULL,13128,NULL,'This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(38363,'NCBI Gene PubMed Count',NULL,13128,NULL,NULL,NULL,20,NULL,NULL,NULL),(38364,'NCBI Gene Summary',NULL,13129,NULL,'This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(38365,'NCBI Gene PubMed Count',NULL,13129,NULL,NULL,NULL,15,NULL,NULL,NULL),(38366,'NCBI Gene Summary',NULL,13130,NULL,'The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(38367,'NCBI Gene PubMed Count',NULL,13130,NULL,NULL,NULL,50,NULL,NULL,NULL),(38368,'NCBI Gene Summary',NULL,13131,NULL,' Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide.  They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid.  They show extensive diversity in tissue distribution and in their subcellular localization.  CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X.  CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38369,'NCBI Gene PubMed Count',NULL,13131,NULL,NULL,NULL,15,NULL,NULL,NULL),(38370,'NCBI Gene Summary',NULL,13132,NULL,'The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(38371,'NCBI Gene PubMed Count',NULL,13132,NULL,NULL,NULL,186,NULL,NULL,NULL),(38372,'NCBI Gene Summary',NULL,13133,NULL,'Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(38373,'NCBI Gene PubMed Count',NULL,13133,NULL,NULL,NULL,154,NULL,NULL,NULL),(38374,'NCBI Gene PubMed Count',NULL,13134,NULL,NULL,NULL,92,NULL,NULL,NULL),(38375,'NCBI Gene Summary',NULL,13135,NULL,'The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(38376,'NCBI Gene PubMed Count',NULL,13135,NULL,NULL,NULL,54,NULL,NULL,NULL),(38377,'NCBI Gene Summary',NULL,13136,NULL,'This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(38378,'NCBI Gene PubMed Count',NULL,13136,NULL,NULL,NULL,30,NULL,NULL,NULL),(38379,'NCBI Gene Summary',NULL,13137,NULL,'This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38380,'NCBI Gene PubMed Count',NULL,13137,NULL,NULL,NULL,15,NULL,NULL,NULL),(38381,'NCBI Gene Summary',NULL,13138,NULL,'This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(38382,'NCBI Gene PubMed Count',NULL,13138,NULL,NULL,NULL,27,NULL,NULL,NULL),(38383,'NCBI Gene Summary',NULL,13139,NULL,'This gene is a member of the beta casein family. There are two types of casein protein, beta (encoded by this gene) and kappa, both of which are secreted in human milk. Beta casein is the principal protein in human milk and the primary source of essential amino acids for a suckling infant. Beta and kappa casein proteins acting together form spherical micelles which bind within them important dietary minerals, such as calcium and phosphorous. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(38384,'NCBI Gene PubMed Count',NULL,13139,NULL,NULL,NULL,25,NULL,NULL,NULL),(38385,'NCBI Gene Summary',NULL,13140,NULL,'The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38386,'NCBI Gene PubMed Count',NULL,13140,NULL,NULL,NULL,36,NULL,NULL,NULL),(38387,'NCBI Gene Summary',NULL,13141,NULL,'The protein encoded by this gene is a cysteine-aspartic acid protease that plays a central role in the execution-phase of cell apoptosis. The encoded protein cleaves and inactivates poly(ADP-ribose) polymerase while it cleaves and activates sterol regulatory element binding proteins as well as caspases 6, 7, and 9. This protein itself is processed by caspases 8, 9, and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer\'s disease. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(38388,'NCBI Gene PubMed Count',NULL,13141,NULL,NULL,NULL,971,NULL,NULL,NULL),(38389,'NCBI Gene Summary',NULL,13142,NULL,'This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic acid residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(38390,'NCBI Gene PubMed Count',NULL,13142,NULL,NULL,NULL,123,NULL,NULL,NULL),(38391,'NCBI Gene Summary',NULL,13143,NULL,'This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38392,'NCBI Gene PubMed Count',NULL,13143,NULL,NULL,NULL,72,NULL,NULL,NULL),(38393,'NCBI Gene Summary',NULL,13144,NULL,'The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(38394,'NCBI Gene PubMed Count',NULL,13144,NULL,NULL,NULL,70,NULL,NULL,NULL),(38395,'NCBI Gene PubMed Count',NULL,13145,NULL,NULL,NULL,6,NULL,NULL,NULL),(38396,'NCBI Gene PubMed Count',NULL,13146,NULL,NULL,NULL,10,NULL,NULL,NULL),(38397,'NCBI Gene Summary',NULL,13147,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38398,'NCBI Gene PubMed Count',NULL,13147,NULL,NULL,NULL,107,NULL,NULL,NULL),(38399,'NCBI Gene Summary',NULL,13148,NULL,'This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(38400,'NCBI Gene PubMed Count',NULL,13148,NULL,NULL,NULL,93,NULL,NULL,NULL),(38401,'NCBI Gene PubMed Count',NULL,13149,NULL,NULL,NULL,5,NULL,NULL,NULL),(38402,'NCBI Gene Summary',NULL,13150,NULL,'The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(38403,'NCBI Gene PubMed Count',NULL,13150,NULL,NULL,NULL,214,NULL,NULL,NULL),(38404,'NCBI Gene PubMed Count',NULL,13151,NULL,NULL,NULL,7,NULL,NULL,NULL),(38405,'NCBI Gene Summary',NULL,13152,NULL,'The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(38406,'NCBI Gene PubMed Count',NULL,13152,NULL,NULL,NULL,20,NULL,NULL,NULL),(38407,'NCBI Gene Summary',NULL,13153,NULL,'This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(38408,'NCBI Gene PubMed Count',NULL,13153,NULL,NULL,NULL,36,NULL,NULL,NULL),(38409,'NCBI Gene Summary',NULL,13154,NULL,'Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38410,'NCBI Gene PubMed Count',NULL,13154,NULL,NULL,NULL,52,NULL,NULL,NULL),(38411,'NCBI Gene Summary',NULL,13155,NULL,'This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38412,'NCBI Gene PubMed Count',NULL,13155,NULL,NULL,NULL,50,NULL,NULL,NULL),(38413,'NCBI Gene PubMed Count',NULL,13156,NULL,NULL,NULL,5,NULL,NULL,NULL),(38414,'NCBI Gene PubMed Count',NULL,13157,NULL,NULL,NULL,17,NULL,NULL,NULL),(38415,'NCBI Gene PubMed Count',NULL,13158,NULL,NULL,NULL,2,NULL,NULL,NULL),(38416,'NCBI Gene PubMed Count',NULL,13159,NULL,NULL,NULL,129,NULL,NULL,NULL),(38417,'NCBI Gene PubMed Count',NULL,13160,NULL,NULL,NULL,11,NULL,NULL,NULL),(38418,'NCBI Gene PubMed Count',NULL,13161,NULL,NULL,NULL,7,NULL,NULL,NULL),(38419,'NCBI Gene PubMed Count',NULL,13162,NULL,NULL,NULL,7,NULL,NULL,NULL),(38420,'NCBI Gene PubMed Count',NULL,13163,NULL,NULL,NULL,5,NULL,NULL,NULL),(38421,'NCBI Gene PubMed Count',NULL,13164,NULL,NULL,NULL,6,NULL,NULL,NULL),(38422,'NCBI Gene PubMed Count',NULL,13165,NULL,NULL,NULL,8,NULL,NULL,NULL),(38423,'NCBI Gene PubMed Count',NULL,13166,NULL,NULL,NULL,36,NULL,NULL,NULL),(38424,'NCBI Gene Summary',NULL,13167,NULL,'Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(38425,'NCBI Gene PubMed Count',NULL,13167,NULL,NULL,NULL,25,NULL,NULL,NULL),(38426,'NCBI Gene Summary',NULL,13168,NULL,'This gene encodes a stromal cell derived factor that is a member of the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(38427,'NCBI Gene PubMed Count',NULL,13168,NULL,NULL,NULL,23,NULL,NULL,NULL),(38428,'NCBI Gene Summary',NULL,13169,NULL,'This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(38429,'NCBI Gene PubMed Count',NULL,13169,NULL,NULL,NULL,189,NULL,NULL,NULL),(38430,'NCBI Gene PubMed Count',NULL,13170,NULL,NULL,NULL,8,NULL,NULL,NULL),(38431,'NCBI Gene PubMed Count',NULL,13171,NULL,NULL,NULL,6,NULL,NULL,NULL),(38432,'NCBI Gene Summary',NULL,13172,NULL,'This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(38433,'NCBI Gene PubMed Count',NULL,13172,NULL,NULL,NULL,98,NULL,NULL,NULL),(38434,'NCBI Gene PubMed Count',NULL,13173,NULL,NULL,NULL,28,NULL,NULL,NULL),(38435,'NCBI Gene Summary',NULL,13174,NULL,'This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator and as an antimicrobial peptide while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(38436,'NCBI Gene PubMed Count',NULL,13174,NULL,NULL,NULL,421,NULL,NULL,NULL),(38437,'NCBI Gene Summary',NULL,13175,NULL,'Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38438,'NCBI Gene PubMed Count',NULL,13175,NULL,NULL,NULL,49,NULL,NULL,NULL),(38439,'NCBI Gene PubMed Count',NULL,13176,NULL,NULL,NULL,11,NULL,NULL,NULL),(38440,'NCBI Gene Summary',NULL,13177,NULL,'This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2018]',NULL,NULL,NULL,NULL,NULL),(38441,'NCBI Gene PubMed Count',NULL,13177,NULL,NULL,NULL,140,NULL,NULL,NULL),(38442,'NCBI Gene Summary',NULL,13178,NULL,'The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38443,'NCBI Gene PubMed Count',NULL,13178,NULL,NULL,NULL,18,NULL,NULL,NULL),(38444,'NCBI Gene PubMed Count',NULL,13179,NULL,NULL,NULL,26,NULL,NULL,NULL),(38445,'NCBI Gene Summary',NULL,13180,NULL,'The protein encoded by this gene may regulate the transport of mRNA. It may play a role in the differentiation of erythroblasts. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(38446,'NCBI Gene PubMed Count',NULL,13180,NULL,NULL,NULL,11,NULL,NULL,NULL),(38447,'NCBI Gene Summary',NULL,13181,NULL,'This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(38448,'NCBI Gene PubMed Count',NULL,13181,NULL,NULL,NULL,21,NULL,NULL,NULL),(38449,'NCBI Gene Summary',NULL,13182,NULL,'The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(38450,'NCBI Gene PubMed Count',NULL,13182,NULL,NULL,NULL,9,NULL,NULL,NULL),(38451,'NCBI Gene Summary',NULL,13183,NULL,'This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(38452,'NCBI Gene PubMed Count',NULL,13183,NULL,NULL,NULL,104,NULL,NULL,NULL),(38453,'NCBI Gene Summary',NULL,13184,NULL,'The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38454,'NCBI Gene PubMed Count',NULL,13184,NULL,NULL,NULL,60,NULL,NULL,NULL),(38455,'NCBI Gene Summary',NULL,13185,NULL,'This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38456,'NCBI Gene PubMed Count',NULL,13185,NULL,NULL,NULL,18,NULL,NULL,NULL),(38457,'NCBI Gene PubMed Count',NULL,13186,NULL,NULL,NULL,2,NULL,NULL,NULL),(38458,'NCBI Gene PubMed Count',NULL,13187,NULL,NULL,NULL,6,NULL,NULL,NULL),(38459,'NCBI Gene Summary',NULL,13188,NULL,'Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(38460,'NCBI Gene PubMed Count',NULL,13188,NULL,NULL,NULL,11,NULL,NULL,NULL),(38461,'NCBI Gene PubMed Count',NULL,13189,NULL,NULL,NULL,3,NULL,NULL,NULL),(38462,'NCBI Gene Summary',NULL,13190,NULL,'This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(38463,'NCBI Gene PubMed Count',NULL,13190,NULL,NULL,NULL,18,NULL,NULL,NULL),(38464,'NCBI Gene PubMed Count',NULL,13191,NULL,NULL,NULL,3,NULL,NULL,NULL),(38465,'NCBI Gene PubMed Count',NULL,13192,NULL,NULL,NULL,0,NULL,NULL,NULL),(38466,'NCBI Gene PubMed Count',NULL,13193,NULL,NULL,NULL,11,NULL,NULL,NULL),(38467,'NCBI Gene Summary',NULL,13194,NULL,'This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38468,'NCBI Gene PubMed Count',NULL,13194,NULL,NULL,NULL,144,NULL,NULL,NULL),(38469,'NCBI Gene PubMed Count',NULL,13195,NULL,NULL,NULL,10,NULL,NULL,NULL),(38470,'NCBI Gene PubMed Count',NULL,13196,NULL,NULL,NULL,3,NULL,NULL,NULL),(38471,'NCBI Gene PubMed Count',NULL,13197,NULL,NULL,NULL,12,NULL,NULL,NULL),(38472,'NCBI Gene Summary',NULL,13198,NULL,'This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(38473,'NCBI Gene PubMed Count',NULL,13198,NULL,NULL,NULL,54,NULL,NULL,NULL),(38474,'NCBI Gene Summary',NULL,13199,NULL,'This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(38475,'NCBI Gene PubMed Count',NULL,13199,NULL,NULL,NULL,25,NULL,NULL,NULL),(38476,'NCBI Gene PubMed Count',NULL,13200,NULL,NULL,NULL,3,NULL,NULL,NULL),(38477,'NCBI Gene PubMed Count',NULL,13201,NULL,NULL,NULL,9,NULL,NULL,NULL),(38478,'NCBI Gene PubMed Count',NULL,13202,NULL,NULL,NULL,6,NULL,NULL,NULL),(38479,'NCBI Gene Summary',NULL,13203,NULL,'This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the \"master control factor\" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(38480,'NCBI Gene PubMed Count',NULL,13203,NULL,NULL,NULL,188,NULL,NULL,NULL),(38481,'NCBI Gene Summary',NULL,13204,NULL,'Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38482,'NCBI Gene PubMed Count',NULL,13204,NULL,NULL,NULL,217,NULL,NULL,NULL),(38483,'NCBI Gene PubMed Count',NULL,13205,NULL,NULL,NULL,12,NULL,NULL,NULL),(38484,'NCBI Gene PubMed Count',NULL,13206,NULL,NULL,NULL,12,NULL,NULL,NULL),(38485,'NCBI Gene Summary',NULL,13207,NULL,'This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(38486,'NCBI Gene PubMed Count',NULL,13207,NULL,NULL,NULL,49,NULL,NULL,NULL),(38487,'NCBI Gene PubMed Count',NULL,13208,NULL,NULL,NULL,10,NULL,NULL,NULL),(38488,'NCBI Gene PubMed Count',NULL,13209,NULL,NULL,NULL,10,NULL,NULL,NULL),(38489,'NCBI Gene PubMed Count',NULL,13210,NULL,NULL,NULL,9,NULL,NULL,NULL),(38490,'NCBI Gene PubMed Count',NULL,13211,NULL,NULL,NULL,3,NULL,NULL,NULL),(38491,'NCBI Gene PubMed Count',NULL,13212,NULL,NULL,NULL,1,NULL,NULL,NULL),(38492,'NCBI Gene PubMed Count',NULL,13213,NULL,NULL,NULL,13,NULL,NULL,NULL),(38493,'NCBI Gene PubMed Count',NULL,13214,NULL,NULL,NULL,3,NULL,NULL,NULL),(38494,'NCBI Gene PubMed Count',NULL,13215,NULL,NULL,NULL,0,NULL,NULL,NULL),(38495,'NCBI Gene Summary',NULL,13216,NULL,'To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(38496,'NCBI Gene PubMed Count',NULL,13216,NULL,NULL,NULL,25,NULL,NULL,NULL),(38497,'NCBI Gene Summary',NULL,13217,NULL,'The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38498,'NCBI Gene PubMed Count',NULL,13217,NULL,NULL,NULL,26,NULL,NULL,NULL),(38499,'NCBI Gene Summary',NULL,13218,NULL,'Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(38500,'NCBI Gene PubMed Count',NULL,13218,NULL,NULL,NULL,36,NULL,NULL,NULL),(38501,'NCBI Gene Summary',NULL,13219,NULL,'This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(38502,'NCBI Gene PubMed Count',NULL,13219,NULL,NULL,NULL,12,NULL,NULL,NULL),(38503,'NCBI Gene Summary',NULL,13220,NULL,'Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(38504,'NCBI Gene PubMed Count',NULL,13220,NULL,NULL,NULL,49,NULL,NULL,NULL),(38505,'NCBI Gene Summary',NULL,13221,NULL,'Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38506,'NCBI Gene PubMed Count',NULL,13221,NULL,NULL,NULL,39,NULL,NULL,NULL),(38507,'NCBI Gene Summary',NULL,13222,NULL,'The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(38508,'NCBI Gene PubMed Count',NULL,13222,NULL,NULL,NULL,49,NULL,NULL,NULL),(38509,'NCBI Gene Summary',NULL,13223,NULL,'Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(38510,'NCBI Gene PubMed Count',NULL,13223,NULL,NULL,NULL,80,NULL,NULL,NULL),(38511,'NCBI Gene Summary',NULL,13224,NULL,'This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. In addition to its antibacterial, antifungal, and antiviral activities, the encoded protein functions in cell chemotaxis, immune mediator induction, and inflammatory response regulation. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(38512,'NCBI Gene PubMed Count',NULL,13224,NULL,NULL,NULL,298,NULL,NULL,NULL),(38513,'NCBI Gene Summary',NULL,13225,NULL,'Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38514,'NCBI Gene PubMed Count',NULL,13225,NULL,NULL,NULL,36,NULL,NULL,NULL),(38515,'NCBI Gene PubMed Count',NULL,13226,NULL,NULL,NULL,11,NULL,NULL,NULL),(38516,'NCBI Gene Summary',NULL,13227,NULL,'Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(38517,'NCBI Gene PubMed Count',NULL,13227,NULL,NULL,NULL,7,NULL,NULL,NULL),(38518,'NCBI Gene Summary',NULL,13228,NULL,'The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(38519,'NCBI Gene PubMed Count',NULL,13228,NULL,NULL,NULL,167,NULL,NULL,NULL),(38520,'NCBI Gene PubMed Count',NULL,13229,NULL,NULL,NULL,18,NULL,NULL,NULL),(38521,'NCBI Gene Summary',NULL,13230,NULL,'This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38522,'NCBI Gene PubMed Count',NULL,13230,NULL,NULL,NULL,24,NULL,NULL,NULL),(38523,'NCBI Gene PubMed Count',NULL,13231,NULL,NULL,NULL,14,NULL,NULL,NULL),(38524,'NCBI Gene PubMed Count',NULL,13232,NULL,NULL,NULL,2,NULL,NULL,NULL),(38525,'NCBI Gene Summary',NULL,13233,NULL,'Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The mechanism by which they contribute to angiogenesis is thought to involve regulation of endothelial cell interactions with supporting perivascular cells. The protein encoded by this gene functions as an agonist and is an angiopoietin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38526,'NCBI Gene PubMed Count',NULL,13233,NULL,NULL,NULL,26,NULL,NULL,NULL),(38527,'NCBI Gene Summary',NULL,13234,NULL,'The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(38528,'NCBI Gene PubMed Count',NULL,13234,NULL,NULL,NULL,233,NULL,NULL,NULL),(38529,'NCBI Gene PubMed Count',NULL,13235,NULL,NULL,NULL,6,NULL,NULL,NULL),(38530,'NCBI Gene PubMed Count',NULL,13236,NULL,NULL,NULL,7,NULL,NULL,NULL),(38531,'NCBI Gene Summary',NULL,13237,NULL,'Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(38532,'NCBI Gene PubMed Count',NULL,13237,NULL,NULL,NULL,20,NULL,NULL,NULL),(38533,'NCBI Gene Summary',NULL,13238,NULL,'Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38534,'NCBI Gene PubMed Count',NULL,13238,NULL,NULL,NULL,43,NULL,NULL,NULL),(38535,'NCBI Gene Summary',NULL,13239,NULL,'This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(38536,'NCBI Gene PubMed Count',NULL,13239,NULL,NULL,NULL,180,NULL,NULL,NULL),(38537,'NCBI Gene Summary',NULL,13240,NULL,'This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(38538,'NCBI Gene PubMed Count',NULL,13240,NULL,NULL,NULL,17,NULL,NULL,NULL),(38539,'NCBI Gene Summary',NULL,13241,NULL,'This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation, and the assembly of small nuclear ribonucleoproteins. A pseudogene of this gene has been defined on chromosome 4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(38540,'NCBI Gene PubMed Count',NULL,13241,NULL,NULL,NULL,160,NULL,NULL,NULL),(38541,'NCBI Gene Summary',NULL,13242,NULL,'This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(38542,'NCBI Gene PubMed Count',NULL,13242,NULL,NULL,NULL,22,NULL,NULL,NULL),(38543,'NCBI Gene Summary',NULL,13243,NULL,'This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(38544,'NCBI Gene PubMed Count',NULL,13243,NULL,NULL,NULL,389,NULL,NULL,NULL),(38545,'NCBI Gene Summary',NULL,13244,NULL,'This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(38546,'NCBI Gene PubMed Count',NULL,13244,NULL,NULL,NULL,32,NULL,NULL,NULL),(38547,'NCBI Gene PubMed Count',NULL,13245,NULL,NULL,NULL,36,NULL,NULL,NULL),(38548,'NCBI Gene PubMed Count',NULL,13246,NULL,NULL,NULL,12,NULL,NULL,NULL),(38549,'NCBI Gene PubMed Count',NULL,13247,NULL,NULL,NULL,2,NULL,NULL,NULL),(38550,'NCBI Gene Summary',NULL,13248,NULL,'This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(38551,'NCBI Gene PubMed Count',NULL,13248,NULL,NULL,NULL,9,NULL,NULL,NULL),(38552,'NCBI Gene Summary',NULL,13249,NULL,'ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(38553,'NCBI Gene PubMed Count',NULL,13249,NULL,NULL,NULL,40,NULL,NULL,NULL),(38554,'NCBI Gene Summary',NULL,13250,NULL,'Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family, members of which include cysteine- and glycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM 186921), rhombotin-2 (RBTN2; MIM 180385), and rhombotin-3 (RBTN3; MIM 180386). CRIP may be involved in intestinal zinc transport (Hempe and Cousins, 1991 [PubMed 1946385]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(38555,'NCBI Gene PubMed Count',NULL,13250,NULL,NULL,NULL,19,NULL,NULL,NULL),(38556,'NCBI Gene PubMed Count',NULL,13251,NULL,NULL,NULL,4,NULL,NULL,NULL),(38557,'NCBI Gene Summary',NULL,13252,NULL,'This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38558,'NCBI Gene PubMed Count',NULL,13252,NULL,NULL,NULL,13,NULL,NULL,NULL),(38559,'NCBI Gene Summary',NULL,13253,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(38560,'NCBI Gene PubMed Count',NULL,13253,NULL,NULL,NULL,599,NULL,NULL,NULL),(38561,'NCBI Gene Summary',NULL,13254,NULL,'This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(38562,'NCBI Gene PubMed Count',NULL,13254,NULL,NULL,NULL,32,NULL,NULL,NULL),(38563,'NCBI Gene Summary',NULL,13255,NULL,'This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38564,'NCBI Gene PubMed Count',NULL,13255,NULL,NULL,NULL,45,NULL,NULL,NULL),(38565,'NCBI Gene Summary',NULL,13256,NULL,'This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(38566,'NCBI Gene PubMed Count',NULL,13256,NULL,NULL,NULL,17,NULL,NULL,NULL),(38567,'NCBI Gene PubMed Count',NULL,13257,NULL,NULL,NULL,11,NULL,NULL,NULL),(38568,'NCBI Gene Summary',NULL,13258,NULL,'The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(38569,'NCBI Gene PubMed Count',NULL,13258,NULL,NULL,NULL,28,NULL,NULL,NULL),(38570,'NCBI Gene Summary',NULL,13259,NULL,'This gene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein and Bcl2. This gene is silenced in tumors by DNA methylation. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(38571,'NCBI Gene PubMed Count',NULL,13259,NULL,NULL,NULL,144,NULL,NULL,NULL),(38572,'NCBI Gene Summary',NULL,13260,NULL,'This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer\'s disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38573,'NCBI Gene PubMed Count',NULL,13260,NULL,NULL,NULL,41,NULL,NULL,NULL),(38574,'NCBI Gene Summary',NULL,13261,NULL,'This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(38575,'NCBI Gene PubMed Count',NULL,13261,NULL,NULL,NULL,60,NULL,NULL,NULL),(38576,'NCBI Gene Summary',NULL,13262,NULL,'This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38577,'NCBI Gene PubMed Count',NULL,13262,NULL,NULL,NULL,249,NULL,NULL,NULL),(38578,'NCBI Gene Summary',NULL,13263,NULL,'The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This protein acts as a putative tumor suppressor and positively regulates the p53 tumor suppressor as well as numerous histone H2A and H2B genes. In contrast, this protein also suppresses the expression of several protooncogenes and growth-related genes, including many genes that are induced by epidermal growth factor. This gene selectively suppresses the expression of some genes by interfering with chromatin recruitment of transcription elongation factor SII (TFIIS). [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(38579,'NCBI Gene PubMed Count',NULL,13263,NULL,NULL,NULL,48,NULL,NULL,NULL),(38580,'NCBI Gene Summary',NULL,13264,NULL,'The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(38581,'NCBI Gene PubMed Count',NULL,13264,NULL,NULL,NULL,29,NULL,NULL,NULL),(38582,'NCBI Gene Summary',NULL,13265,NULL,'This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(38583,'NCBI Gene PubMed Count',NULL,13265,NULL,NULL,NULL,38,NULL,NULL,NULL),(38584,'NCBI Gene PubMed Count',NULL,13266,NULL,NULL,NULL,1,NULL,NULL,NULL),(38585,'NCBI Gene PubMed Count',NULL,13267,NULL,NULL,NULL,3,NULL,NULL,NULL),(38586,'NCBI Gene Summary',NULL,13268,NULL,'This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(38587,'NCBI Gene PubMed Count',NULL,13268,NULL,NULL,NULL,48,NULL,NULL,NULL),(38588,'NCBI Gene Summary',NULL,13269,NULL,'The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38589,'NCBI Gene PubMed Count',NULL,13269,NULL,NULL,NULL,9,NULL,NULL,NULL),(38590,'NCBI Gene Summary',NULL,13270,NULL,'This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38591,'NCBI Gene PubMed Count',NULL,13270,NULL,NULL,NULL,246,NULL,NULL,NULL),(38592,'NCBI Gene PubMed Count',NULL,13271,NULL,NULL,NULL,12,NULL,NULL,NULL),(38593,'NCBI Gene Summary',NULL,13272,NULL,'This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(38594,'NCBI Gene PubMed Count',NULL,13272,NULL,NULL,NULL,10,NULL,NULL,NULL),(38595,'NCBI Gene Summary',NULL,13273,NULL,'This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL\'s transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(38596,'NCBI Gene PubMed Count',NULL,13273,NULL,NULL,NULL,53,NULL,NULL,NULL),(38597,'NCBI Gene PubMed Count',NULL,13274,NULL,NULL,NULL,2,NULL,NULL,NULL),(38598,'NCBI Gene Summary',NULL,13275,NULL,'This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(38599,'NCBI Gene PubMed Count',NULL,13275,NULL,NULL,NULL,30,NULL,NULL,NULL),(38600,'NCBI Gene Summary',NULL,13276,NULL,'This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(38601,'NCBI Gene PubMed Count',NULL,13276,NULL,NULL,NULL,10,NULL,NULL,NULL),(38602,'NCBI Gene PubMed Count',NULL,13277,NULL,NULL,NULL,16,NULL,NULL,NULL),(38603,'NCBI Gene PubMed Count',NULL,13278,NULL,NULL,NULL,8,NULL,NULL,NULL),(38604,'NCBI Gene Summary',NULL,13279,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in development of the reproductive system. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(38605,'NCBI Gene PubMed Count',NULL,13279,NULL,NULL,NULL,17,NULL,NULL,NULL),(38606,'NCBI Gene Summary',NULL,13280,NULL,'This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(38607,'NCBI Gene PubMed Count',NULL,13280,NULL,NULL,NULL,24,NULL,NULL,NULL),(38608,'NCBI Gene Summary',NULL,13281,NULL,'This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(38609,'NCBI Gene PubMed Count',NULL,13281,NULL,NULL,NULL,94,NULL,NULL,NULL),(38610,'NCBI Gene Summary',NULL,13282,NULL,'BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase\'s physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38611,'NCBI Gene PubMed Count',NULL,13282,NULL,NULL,NULL,7,NULL,NULL,NULL),(38612,'NCBI Gene Summary',NULL,13283,NULL,'The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(38613,'NCBI Gene PubMed Count',NULL,13283,NULL,NULL,NULL,21,NULL,NULL,NULL),(38614,'NCBI Gene PubMed Count',NULL,13284,NULL,NULL,NULL,13,NULL,NULL,NULL),(38615,'NCBI Gene Summary',NULL,13285,NULL,'The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(38616,'NCBI Gene PubMed Count',NULL,13285,NULL,NULL,NULL,14,NULL,NULL,NULL),(38617,'NCBI Gene Summary',NULL,13286,NULL,'This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(38618,'NCBI Gene PubMed Count',NULL,13286,NULL,NULL,NULL,10,NULL,NULL,NULL),(38619,'NCBI Gene Summary',NULL,13287,NULL,'This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38620,'NCBI Gene PubMed Count',NULL,13287,NULL,NULL,NULL,31,NULL,NULL,NULL),(38621,'NCBI Gene Summary',NULL,13288,NULL,'This gene encodes a member of the epidermal growth factor (EGF) family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the secreted growth factor. A secreted form and a membrane-anchored form of this protein bind to multiple different EGF receptors. This protein promotes pancreatic cell proliferation and insulin secretion, as well as retinal vascular permeability. Mutations in this gene may be associated with type 2 diabetes in human patients. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(38622,'NCBI Gene PubMed Count',NULL,13288,NULL,NULL,NULL,45,NULL,NULL,NULL),(38623,'NCBI Gene PubMed Count',NULL,13289,NULL,NULL,NULL,3,NULL,NULL,NULL),(38624,'NCBI Gene PubMed Count',NULL,13290,NULL,NULL,NULL,22,NULL,NULL,NULL),(38625,'NCBI Gene PubMed Count',NULL,13291,NULL,NULL,NULL,3,NULL,NULL,NULL),(38626,'NCBI Gene PubMed Count',NULL,13292,NULL,NULL,NULL,3,NULL,NULL,NULL),(38627,'NCBI Gene PubMed Count',NULL,13293,NULL,NULL,NULL,2,NULL,NULL,NULL),(38628,'NCBI Gene PubMed Count',NULL,13294,NULL,NULL,NULL,10,NULL,NULL,NULL),(38629,'NCBI Gene PubMed Count',NULL,13295,NULL,NULL,NULL,10,NULL,NULL,NULL),(38630,'NCBI Gene Summary',NULL,13296,NULL,'Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the \'high-voltage activated\' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(38631,'NCBI Gene PubMed Count',NULL,13296,NULL,NULL,NULL,49,NULL,NULL,NULL),(38632,'NCBI Gene Summary',NULL,13297,NULL,'The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(38633,'NCBI Gene PubMed Count',NULL,13297,NULL,NULL,NULL,10,NULL,NULL,NULL),(38634,'NCBI Gene PubMed Count',NULL,13298,NULL,NULL,NULL,2,NULL,NULL,NULL),(38635,'NCBI Gene Summary',NULL,13299,NULL,'This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(38636,'NCBI Gene PubMed Count',NULL,13299,NULL,NULL,NULL,65,NULL,NULL,NULL),(38637,'NCBI Gene Summary',NULL,13300,NULL,'This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38638,'NCBI Gene PubMed Count',NULL,13300,NULL,NULL,NULL,11,NULL,NULL,NULL),(38639,'NCBI Gene Summary',NULL,13301,NULL,'The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(38640,'NCBI Gene PubMed Count',NULL,13301,NULL,NULL,NULL,28,NULL,NULL,NULL),(38641,'NCBI Gene PubMed Count',NULL,13302,NULL,NULL,NULL,15,NULL,NULL,NULL),(38642,'NCBI Gene Summary',NULL,13303,NULL,'This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein\'s homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38643,'NCBI Gene PubMed Count',NULL,13303,NULL,NULL,NULL,16,NULL,NULL,NULL),(38644,'NCBI Gene PubMed Count',NULL,13304,NULL,NULL,NULL,7,NULL,NULL,NULL),(38645,'NCBI Gene Summary',NULL,13305,NULL,'This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL\'s transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(38646,'NCBI Gene PubMed Count',NULL,13305,NULL,NULL,NULL,86,NULL,NULL,NULL),(38647,'NCBI Gene PubMed Count',NULL,13306,NULL,NULL,NULL,8,NULL,NULL,NULL),(38648,'NCBI Gene Summary',NULL,13307,NULL,'The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(38649,'NCBI Gene PubMed Count',NULL,13307,NULL,NULL,NULL,33,NULL,NULL,NULL),(38650,'NCBI Gene Summary',NULL,13308,NULL,'Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38651,'NCBI Gene PubMed Count',NULL,13308,NULL,NULL,NULL,48,NULL,NULL,NULL),(38652,'NCBI Gene Summary',NULL,13309,NULL,'The protein encoded by this gene is a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Alternative splicing of this gene results in multiple transcript variants, and multiple polyadenylation sites are indicated.[provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(38653,'NCBI Gene PubMed Count',NULL,13309,NULL,NULL,NULL,27,NULL,NULL,NULL),(38654,'NCBI Gene Summary',NULL,13310,NULL,'This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38655,'NCBI Gene PubMed Count',NULL,13310,NULL,NULL,NULL,23,NULL,NULL,NULL),(38656,'NCBI Gene Summary',NULL,13311,NULL,'CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(38657,'NCBI Gene PubMed Count',NULL,13311,NULL,NULL,NULL,19,NULL,NULL,NULL),(38658,'NCBI Gene Summary',NULL,13312,NULL,'This gene encodes a member of the palate, lung and nasal epithelium clone (Plunc) family of proteins. Members of this family have been proposed to play a role in the local antibacterial response in nose, mouth and upper respiratory pathways. The encoded soluble salivary protein binds bacterial lipopolysaccharide (LPS) and inhibits bacterial growth. This gene is present in a gene cluster on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(38659,'NCBI Gene PubMed Count',NULL,13312,NULL,NULL,NULL,17,NULL,NULL,NULL),(38660,'NCBI Gene Summary',NULL,13313,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(38661,'NCBI Gene PubMed Count',NULL,13313,NULL,NULL,NULL,39,NULL,NULL,NULL),(38662,'NCBI Gene Summary',NULL,13314,NULL,'The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38663,'NCBI Gene PubMed Count',NULL,13314,NULL,NULL,NULL,18,NULL,NULL,NULL),(38664,'NCBI Gene PubMed Count',NULL,13315,NULL,NULL,NULL,11,NULL,NULL,NULL),(38665,'NCBI Gene Summary',NULL,13316,NULL,'This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(38666,'NCBI Gene PubMed Count',NULL,13316,NULL,NULL,NULL,80,NULL,NULL,NULL),(38667,'NCBI Gene Summary',NULL,13317,NULL,'This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38668,'NCBI Gene PubMed Count',NULL,13317,NULL,NULL,NULL,16,NULL,NULL,NULL),(38669,'NCBI Gene Summary',NULL,13318,NULL,'This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(38670,'NCBI Gene PubMed Count',NULL,13318,NULL,NULL,NULL,45,NULL,NULL,NULL),(38671,'NCBI Gene Summary',NULL,13319,NULL,'This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38672,'NCBI Gene PubMed Count',NULL,13319,NULL,NULL,NULL,23,NULL,NULL,NULL),(38673,'NCBI Gene PubMed Count',NULL,13320,NULL,NULL,NULL,8,NULL,NULL,NULL),(38674,'NCBI Gene PubMed Count',NULL,13321,NULL,NULL,NULL,3,NULL,NULL,NULL),(38675,'NCBI Gene Summary',NULL,13322,NULL,'Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(38676,'NCBI Gene PubMed Count',NULL,13322,NULL,NULL,NULL,1647,NULL,NULL,NULL),(38677,'NCBI Gene PubMed Count',NULL,13323,NULL,NULL,NULL,8,NULL,NULL,NULL),(38678,'NCBI Gene PubMed Count',NULL,13324,NULL,NULL,NULL,11,NULL,NULL,NULL),(38679,'NCBI Gene PubMed Count',NULL,13325,NULL,NULL,NULL,9,NULL,NULL,NULL),(38680,'NCBI Gene Summary',NULL,13326,NULL,'This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38681,'NCBI Gene PubMed Count',NULL,13326,NULL,NULL,NULL,53,NULL,NULL,NULL),(38682,'NCBI Gene PubMed Count',NULL,13327,NULL,NULL,NULL,37,NULL,NULL,NULL),(38683,'NCBI Gene Summary',NULL,13328,NULL,'The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(38684,'NCBI Gene PubMed Count',NULL,13328,NULL,NULL,NULL,29,NULL,NULL,NULL),(38685,'NCBI Gene Summary',NULL,13329,NULL,'BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(38686,'NCBI Gene PubMed Count',NULL,13329,NULL,NULL,NULL,20,NULL,NULL,NULL),(38687,'NCBI Gene PubMed Count',NULL,13330,NULL,NULL,NULL,9,NULL,NULL,NULL),(38688,'NCBI Gene PubMed Count',NULL,13331,NULL,NULL,NULL,10,NULL,NULL,NULL),(38689,'NCBI Gene Summary',NULL,13332,NULL,'This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(38690,'NCBI Gene PubMed Count',NULL,13332,NULL,NULL,NULL,70,NULL,NULL,NULL),(38691,'NCBI Gene Summary',NULL,13333,NULL,'This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3\' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38692,'NCBI Gene PubMed Count',NULL,13333,NULL,NULL,NULL,10,NULL,NULL,NULL),(38693,'NCBI Gene PubMed Count',NULL,13334,NULL,NULL,NULL,16,NULL,NULL,NULL),(38694,'NCBI Gene Summary',NULL,13335,NULL,'Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(38695,'NCBI Gene PubMed Count',NULL,13335,NULL,NULL,NULL,14,NULL,NULL,NULL),(38696,'NCBI Gene Summary',NULL,13336,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(38697,'NCBI Gene PubMed Count',NULL,13336,NULL,NULL,NULL,33,NULL,NULL,NULL),(38698,'NCBI Gene PubMed Count',NULL,13337,NULL,NULL,NULL,15,NULL,NULL,NULL),(38699,'NCBI Gene Summary',NULL,13338,NULL,'The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(38700,'NCBI Gene PubMed Count',NULL,13338,NULL,NULL,NULL,20,NULL,NULL,NULL),(38701,'NCBI Gene Summary',NULL,13339,NULL,'The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38702,'NCBI Gene PubMed Count',NULL,13339,NULL,NULL,NULL,38,NULL,NULL,NULL),(38703,'NCBI Gene Summary',NULL,13340,NULL,'This gene encodes an RNA methyltransferase which belongs to the rossmann fold methyltransferase family, and serves as a 5\'-methylphosphate capping enzyme that is specific for cytoplasmic histidyl tRNA. The encoded protein contains an S-adenosylmethionine binding domain and uses the methyl group donor, S-adenosylmethionine. This gene is overexpressed in breast cancer cells, and is related to the tumorigenic phenotype and poor prognosis of breast cancer. The encoded protein is thought to promote the cellular invasion of breast cancer cells, by downregulating the expression of tumor suppressor miRNAs through the dimethylation of the 5-monophosphate of the corresponding precursor miRNAs. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(38704,'NCBI Gene PubMed Count',NULL,13340,NULL,NULL,NULL,17,NULL,NULL,NULL),(38705,'NCBI Gene Summary',NULL,13341,NULL,'This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(38706,'NCBI Gene PubMed Count',NULL,13341,NULL,NULL,NULL,33,NULL,NULL,NULL),(38707,'NCBI Gene Summary',NULL,13342,NULL,'The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38708,'NCBI Gene PubMed Count',NULL,13342,NULL,NULL,NULL,22,NULL,NULL,NULL),(38709,'NCBI Gene Summary',NULL,13343,NULL,'This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(38710,'NCBI Gene PubMed Count',NULL,13343,NULL,NULL,NULL,2042,NULL,NULL,NULL),(38711,'NCBI Gene PubMed Count',NULL,13344,NULL,NULL,NULL,8,NULL,NULL,NULL),(38712,'NCBI Gene PubMed Count',NULL,13345,NULL,NULL,NULL,11,NULL,NULL,NULL),(38713,'NCBI Gene Summary',NULL,13346,NULL,'This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38714,'NCBI Gene PubMed Count',NULL,13346,NULL,NULL,NULL,28,NULL,NULL,NULL),(38715,'NCBI Gene PubMed Count',NULL,13347,NULL,NULL,NULL,1,NULL,NULL,NULL),(38716,'NCBI Gene Summary',NULL,13348,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38717,'NCBI Gene PubMed Count',NULL,13348,NULL,NULL,NULL,6,NULL,NULL,NULL),(38718,'NCBI Gene PubMed Count',NULL,13349,NULL,NULL,NULL,2,NULL,NULL,NULL),(38719,'NCBI Gene PubMed Count',NULL,13350,NULL,NULL,NULL,2,NULL,NULL,NULL),(38720,'NCBI Gene PubMed Count',NULL,13351,NULL,NULL,NULL,10,NULL,NULL,NULL),(38721,'NCBI Gene PubMed Count',NULL,13352,NULL,NULL,NULL,7,NULL,NULL,NULL),(38722,'NCBI Gene PubMed Count',NULL,13353,NULL,NULL,NULL,10,NULL,NULL,NULL),(38723,'NCBI Gene PubMed Count',NULL,13354,NULL,NULL,NULL,9,NULL,NULL,NULL),(38724,'NCBI Gene PubMed Count',NULL,13355,NULL,NULL,NULL,2,NULL,NULL,NULL),(38725,'NCBI Gene Summary',NULL,13356,NULL,'This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38726,'NCBI Gene PubMed Count',NULL,13356,NULL,NULL,NULL,26,NULL,NULL,NULL),(38727,'NCBI Gene Summary',NULL,13357,NULL,'This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(38728,'NCBI Gene PubMed Count',NULL,13357,NULL,NULL,NULL,110,NULL,NULL,NULL),(38729,'NCBI Gene Summary',NULL,13358,NULL,'This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(38730,'NCBI Gene PubMed Count',NULL,13358,NULL,NULL,NULL,35,NULL,NULL,NULL),(38731,'NCBI Gene Summary',NULL,13359,NULL,'This gene encodes an adaptor protein that belongs to the bicaudal D family of dynein cargo adaptors. The encoded protein acts as an intracellular cargo transport cofactor that regulates the microtubule-based loading of cargo onto the dynein motor complex. It also controls dynein motor activity and coordination. It has a domain architecture consisting of coiled-coil domains at the N- and C-termini that are highly conserved in other family members. Naturally occurring mutations in this gene are associated with short telomere length and emphysema. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(38732,'NCBI Gene PubMed Count',NULL,13359,NULL,NULL,NULL,35,NULL,NULL,NULL),(38733,'NCBI Gene Summary',NULL,13360,NULL,'This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(38734,'NCBI Gene PubMed Count',NULL,13360,NULL,NULL,NULL,26,NULL,NULL,NULL),(38735,'NCBI Gene PubMed Count',NULL,13361,NULL,NULL,NULL,12,NULL,NULL,NULL),(38736,'NCBI Gene Summary',NULL,13362,NULL,'This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(38737,'NCBI Gene PubMed Count',NULL,13362,NULL,NULL,NULL,16,NULL,NULL,NULL),(38738,'NCBI Gene Summary',NULL,13363,NULL,'CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38739,'NCBI Gene PubMed Count',NULL,13363,NULL,NULL,NULL,22,NULL,NULL,NULL),(38740,'NCBI Gene PubMed Count',NULL,13364,NULL,NULL,NULL,9,NULL,NULL,NULL),(38741,'NCBI Gene PubMed Count',NULL,13365,NULL,NULL,NULL,6,NULL,NULL,NULL),(38742,'NCBI Gene Summary',NULL,13366,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The encoded protein stimulates thermogenesis in brown adipose tissue. Expression of this gene may be downregulated in pancreatic cancer. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(38743,'NCBI Gene PubMed Count',NULL,13366,NULL,NULL,NULL,18,NULL,NULL,NULL),(38744,'NCBI Gene Summary',NULL,13367,NULL,'The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38745,'NCBI Gene PubMed Count',NULL,13367,NULL,NULL,NULL,39,NULL,NULL,NULL),(38746,'NCBI Gene PubMed Count',NULL,13368,NULL,NULL,NULL,14,NULL,NULL,NULL),(38747,'NCBI Gene PubMed Count',NULL,13369,NULL,NULL,NULL,4,NULL,NULL,NULL),(38748,'NCBI Gene Summary',NULL,13370,NULL,'This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(38749,'NCBI Gene PubMed Count',NULL,13370,NULL,NULL,NULL,16,NULL,NULL,NULL),(38750,'NCBI Gene Summary',NULL,13371,NULL,'The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A3) and BTN3 (e.g., BNT3A1; MIM 613593) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(38751,'NCBI Gene PubMed Count',NULL,13371,NULL,NULL,NULL,7,NULL,NULL,NULL),(38752,'NCBI Gene Summary',NULL,13372,NULL,'The protein encoded by this gene is a G protein-coupled membrane receptor that binds bombesin-like peptides. This binding results in activation of a phosphatidylinositol-calcium second messenger system, with physiological effects including regulation of metabolic rate, glucose metabolism, and hypertension. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(38753,'NCBI Gene PubMed Count',NULL,13372,NULL,NULL,NULL,22,NULL,NULL,NULL),(38754,'NCBI Gene PubMed Count',NULL,13373,NULL,NULL,NULL,9,NULL,NULL,NULL),(38755,'NCBI Gene PubMed Count',NULL,13374,NULL,NULL,NULL,7,NULL,NULL,NULL),(38756,'NCBI Gene Summary',NULL,13375,NULL,'This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(38757,'NCBI Gene PubMed Count',NULL,13375,NULL,NULL,NULL,51,NULL,NULL,NULL),(38758,'NCBI Gene Summary',NULL,13376,NULL,'This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38759,'NCBI Gene PubMed Count',NULL,13376,NULL,NULL,NULL,157,NULL,NULL,NULL),(38760,'NCBI Gene Summary',NULL,13377,NULL,'This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(38761,'NCBI Gene PubMed Count',NULL,13377,NULL,NULL,NULL,112,NULL,NULL,NULL),(38762,'NCBI Gene Summary',NULL,13378,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone, kidney and brown adipose tissue development. Additionally, this protein induces ectopic bone formation and may promote fracture healing in human patients. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(38763,'NCBI Gene PubMed Count',NULL,13378,NULL,NULL,NULL,249,NULL,NULL,NULL),(38764,'NCBI Gene Summary',NULL,13379,NULL,'BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(38765,'NCBI Gene PubMed Count',NULL,13379,NULL,NULL,NULL,20,NULL,NULL,NULL),(38766,'NCBI Gene Summary',NULL,13380,NULL,'The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38767,'NCBI Gene PubMed Count',NULL,13380,NULL,NULL,NULL,130,NULL,NULL,NULL),(38768,'NCBI Gene Summary',NULL,13381,NULL,'This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(38769,'NCBI Gene PubMed Count',NULL,13381,NULL,NULL,NULL,22,NULL,NULL,NULL),(38770,'NCBI Gene PubMed Count',NULL,13382,NULL,NULL,NULL,30,NULL,NULL,NULL),(38771,'NCBI Gene Summary',NULL,13383,NULL,'The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(38772,'NCBI Gene PubMed Count',NULL,13383,NULL,NULL,NULL,257,NULL,NULL,NULL),(38773,'NCBI Gene Summary',NULL,13384,NULL,'This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38774,'NCBI Gene PubMed Count',NULL,13384,NULL,NULL,NULL,10,NULL,NULL,NULL),(38775,'NCBI Gene Summary',NULL,13385,NULL,'This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(38776,'NCBI Gene PubMed Count',NULL,13385,NULL,NULL,NULL,14,NULL,NULL,NULL),(38777,'NCBI Gene Summary',NULL,13386,NULL,'This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38778,'NCBI Gene PubMed Count',NULL,13386,NULL,NULL,NULL,22,NULL,NULL,NULL),(38779,'NCBI Gene Summary',NULL,13387,NULL,'This locus appears to be a transcribed pseudogene similar to centrosomal protein 170kDa (CEP170). An approximately 50 kb region upstream of this locus also is homologous to CEP170, but is not transcribed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38780,'NCBI Gene PubMed Count',NULL,13387,NULL,NULL,NULL,7,NULL,NULL,NULL),(38781,'NCBI Gene Summary',NULL,13388,NULL,'C3a is an anaphylatoxin released during activation of the complement system. The protein encoded by this gene is an orphan G protein-coupled receptor for C3a. Binding of C3a by the encoded receptor activates chemotaxis, granule enzyme release, superoxide anion production, and bacterial opsonization. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(38782,'NCBI Gene PubMed Count',NULL,13388,NULL,NULL,NULL,53,NULL,NULL,NULL),(38783,'NCBI Gene PubMed Count',NULL,13389,NULL,NULL,NULL,6,NULL,NULL,NULL),(38784,'NCBI Gene Summary',NULL,13390,NULL,'This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(38785,'NCBI Gene PubMed Count',NULL,13390,NULL,NULL,NULL,15,NULL,NULL,NULL),(38786,'NCBI Gene PubMed Count',NULL,13391,NULL,NULL,NULL,7,NULL,NULL,NULL),(38787,'NCBI Gene Summary',NULL,13392,NULL,'This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38788,'NCBI Gene PubMed Count',NULL,13392,NULL,NULL,NULL,154,NULL,NULL,NULL),(38789,'NCBI Gene PubMed Count',NULL,13394,NULL,NULL,NULL,10,NULL,NULL,NULL),(38790,'NCBI Gene PubMed Count',NULL,13395,NULL,NULL,NULL,5,NULL,NULL,NULL),(38791,'NCBI Gene PubMed Count',NULL,13396,NULL,NULL,NULL,6,NULL,NULL,NULL),(38792,'NCBI Gene PubMed Count',NULL,13397,NULL,NULL,NULL,2,NULL,NULL,NULL),(38793,'NCBI Gene PubMed Count',NULL,13398,NULL,NULL,NULL,5,NULL,NULL,NULL),(38794,'NCBI Gene PubMed Count',NULL,13399,NULL,NULL,NULL,2,NULL,NULL,NULL),(38795,'NCBI Gene PubMed Count',NULL,13400,NULL,NULL,NULL,7,NULL,NULL,NULL),(38796,'NCBI Gene Summary',NULL,13401,NULL,'This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38797,'NCBI Gene PubMed Count',NULL,13401,NULL,NULL,NULL,67,NULL,NULL,NULL),(38798,'NCBI Gene Summary',NULL,13402,NULL,'This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(38799,'NCBI Gene PubMed Count',NULL,13402,NULL,NULL,NULL,21,NULL,NULL,NULL),(38800,'NCBI Gene Summary',NULL,13403,NULL,'This gene encodes a classical cadherin of the cadherin superfamily. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Functioning as a classical cadherin by imparting to cells the ability to adhere in a homophilic manner, this protein plays a role in endothelial adherens junction assembly and maintenance. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(38801,'NCBI Gene PubMed Count',NULL,13403,NULL,NULL,NULL,220,NULL,NULL,NULL),(38802,'NCBI Gene Summary',NULL,13404,NULL,' Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide.  They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid.  They show extensive diversity in tissue distribution and in their subcellular localization.  CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38803,'NCBI Gene PubMed Count',NULL,13404,NULL,NULL,NULL,16,NULL,NULL,NULL),(38804,'NCBI Gene Summary',NULL,13405,NULL,'Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(38805,'NCBI Gene PubMed Count',NULL,13405,NULL,NULL,NULL,271,NULL,NULL,NULL),(38806,'NCBI Gene PubMed Count',NULL,13406,NULL,NULL,NULL,26,NULL,NULL,NULL),(38807,'NCBI Gene PubMed Count',NULL,13407,NULL,NULL,NULL,19,NULL,NULL,NULL),(38808,'NCBI Gene Summary',NULL,13408,NULL,'This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(38809,'NCBI Gene PubMed Count',NULL,13408,NULL,NULL,NULL,151,NULL,NULL,NULL),(38810,'NCBI Gene Summary',NULL,13409,NULL,'Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(38811,'NCBI Gene PubMed Count',NULL,13409,NULL,NULL,NULL,9,NULL,NULL,NULL),(38812,'NCBI Gene Summary',NULL,13410,NULL,'This gene encodes a protein that belongs to the pro-apoptotic subfamily within the Bcl-2 family of proteins. The encoded protein binds to Bcl-2 and possesses the BH3 domain. The protein directly targets mitochondria and causes apoptotic changes, including loss of membrane potential and the release of cytochrome c. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(38813,'NCBI Gene PubMed Count',NULL,13410,NULL,NULL,NULL,43,NULL,NULL,NULL),(38814,'NCBI Gene Summary',NULL,13411,NULL,'This gene encodes a component of the chromosomal passenger complex. This complex is an essential regulator of mitosis and cell division. This protein is cell-cycle regulated and is required for chromatin-induced microtubule stabilization and spindle formation. Alternate splicing results in multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(38815,'NCBI Gene PubMed Count',NULL,13411,NULL,NULL,NULL,46,NULL,NULL,NULL),(38816,'NCBI Gene Summary',NULL,13412,NULL,'The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38817,'NCBI Gene PubMed Count',NULL,13412,NULL,NULL,NULL,7,NULL,NULL,NULL),(38818,'NCBI Gene Summary',NULL,13413,NULL,'This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(38819,'NCBI Gene PubMed Count',NULL,13413,NULL,NULL,NULL,20,NULL,NULL,NULL),(38820,'NCBI Gene Summary',NULL,13414,NULL,'This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(38821,'NCBI Gene PubMed Count',NULL,13414,NULL,NULL,NULL,84,NULL,NULL,NULL),(38822,'NCBI Gene Summary',NULL,13415,NULL,'This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schizophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(38823,'NCBI Gene PubMed Count',NULL,13415,NULL,NULL,NULL,31,NULL,NULL,NULL),(38824,'NCBI Gene Summary',NULL,13416,NULL,'This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(38825,'NCBI Gene PubMed Count',NULL,13416,NULL,NULL,NULL,64,NULL,NULL,NULL),(38826,'NCBI Gene PubMed Count',NULL,13417,NULL,NULL,NULL,21,NULL,NULL,NULL),(38827,'NCBI Gene Summary',NULL,13418,NULL,'The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38828,'NCBI Gene PubMed Count',NULL,13418,NULL,NULL,NULL,20,NULL,NULL,NULL),(38829,'NCBI Gene PubMed Count',NULL,13419,NULL,NULL,NULL,5,NULL,NULL,NULL),(38830,'NCBI Gene PubMed Count',NULL,13420,NULL,NULL,NULL,6,NULL,NULL,NULL),(38831,'NCBI Gene PubMed Count',NULL,13421,NULL,NULL,NULL,5,NULL,NULL,NULL),(38832,'NCBI Gene PubMed Count',NULL,13422,NULL,NULL,NULL,6,NULL,NULL,NULL),(38833,'NCBI Gene PubMed Count',NULL,13423,NULL,NULL,NULL,6,NULL,NULL,NULL),(38834,'NCBI Gene PubMed Count',NULL,13424,NULL,NULL,NULL,3,NULL,NULL,NULL),(38835,'NCBI Gene Summary',NULL,13425,NULL,'This gene encodes a G-protein coupled receptor 1 family member involved in the complement system of the innate immune response. Unlike classical G-protein coupled receptors, the encoded protein does not associate with intracellular G-proteins. It may instead modulate signal transduction through the beta-arrestin pathway, and may alternatively act as a decoy receptor. This gene may be involved in coronary artery disease and in the pathogenesis of sepsis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(38836,'NCBI Gene PubMed Count',NULL,13425,NULL,NULL,NULL,44,NULL,NULL,NULL),(38837,'NCBI Gene PubMed Count',NULL,13426,NULL,NULL,NULL,4,NULL,NULL,NULL),(38838,'NCBI Gene Summary',NULL,13427,NULL,'This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38839,'NCBI Gene PubMed Count',NULL,13427,NULL,NULL,NULL,72,NULL,NULL,NULL),(38840,'NCBI Gene PubMed Count',NULL,13428,NULL,NULL,NULL,3,NULL,NULL,NULL),(38841,'NCBI Gene PubMed Count',NULL,13429,NULL,NULL,NULL,4,NULL,NULL,NULL),(38842,'NCBI Gene PubMed Count',NULL,13430,NULL,NULL,NULL,7,NULL,NULL,NULL),(38843,'NCBI Gene Summary',NULL,13431,NULL,'Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38844,'NCBI Gene PubMed Count',NULL,13431,NULL,NULL,NULL,21,NULL,NULL,NULL),(38845,'NCBI Gene PubMed Count',NULL,13432,NULL,NULL,NULL,25,NULL,NULL,NULL),(38846,'NCBI Gene Summary',NULL,13433,NULL,'The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(38847,'NCBI Gene PubMed Count',NULL,13433,NULL,NULL,NULL,36,NULL,NULL,NULL),(38848,'NCBI Gene PubMed Count',NULL,13434,NULL,NULL,NULL,5,NULL,NULL,NULL),(38849,'NCBI Gene PubMed Count',NULL,13435,NULL,NULL,NULL,0,NULL,NULL,NULL),(38850,'NCBI Gene PubMed Count',NULL,13436,NULL,NULL,NULL,11,NULL,NULL,NULL),(38851,'NCBI Gene Summary',NULL,13437,NULL,'The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(38852,'NCBI Gene PubMed Count',NULL,13437,NULL,NULL,NULL,23,NULL,NULL,NULL),(38853,'NCBI Gene Summary',NULL,13438,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(38854,'NCBI Gene PubMed Count',NULL,13438,NULL,NULL,NULL,19,NULL,NULL,NULL),(38855,'NCBI Gene PubMed Count',NULL,13439,NULL,NULL,NULL,23,NULL,NULL,NULL),(38856,'NCBI Gene PubMed Count',NULL,13440,NULL,NULL,NULL,10,NULL,NULL,NULL),(38857,'NCBI Gene Summary',NULL,13441,NULL,'This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. The SRCR family is defined by a 100-110 amino acid SRCR domain, which may mediate protein-protein interaction and ligand binding. The encoded protein contains twelve SRCR domains, a transmembrane region and a cytoplasmic domain. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(38858,'NCBI Gene PubMed Count',NULL,13441,NULL,NULL,NULL,12,NULL,NULL,NULL),(38859,'NCBI Gene PubMed Count',NULL,13442,NULL,NULL,NULL,3,NULL,NULL,NULL),(38860,'NCBI Gene PubMed Count',NULL,13443,NULL,NULL,NULL,4,NULL,NULL,NULL),(38861,'NCBI Gene Summary',NULL,13444,NULL,'This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(38862,'NCBI Gene PubMed Count',NULL,13444,NULL,NULL,NULL,41,NULL,NULL,NULL),(38863,'NCBI Gene Summary',NULL,13445,NULL,'This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(38864,'NCBI Gene PubMed Count',NULL,13445,NULL,NULL,NULL,12,NULL,NULL,NULL),(38865,'NCBI Gene PubMed Count',NULL,13446,NULL,NULL,NULL,3,NULL,NULL,NULL),(38866,'NCBI Gene Summary',NULL,13447,NULL,'An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(38867,'NCBI Gene PubMed Count',NULL,13447,NULL,NULL,NULL,9,NULL,NULL,NULL),(38868,'NCBI Gene PubMed Count',NULL,13448,NULL,NULL,NULL,6,NULL,NULL,NULL),(38869,'NCBI Gene Summary',NULL,13449,NULL,'The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(38870,'NCBI Gene PubMed Count',NULL,13449,NULL,NULL,NULL,55,NULL,NULL,NULL),(38871,'NCBI Gene PubMed Count',NULL,13450,NULL,NULL,NULL,2,NULL,NULL,NULL),(38872,'NCBI Gene PubMed Count',NULL,13451,NULL,NULL,NULL,0,NULL,NULL,NULL),(38873,'NCBI Gene PubMed Count',NULL,13452,NULL,NULL,NULL,169,NULL,NULL,NULL),(38874,'NCBI Gene Summary',NULL,13453,NULL,'This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38875,'NCBI Gene PubMed Count',NULL,13453,NULL,NULL,NULL,14,NULL,NULL,NULL),(38876,'NCBI Gene Summary',NULL,13454,NULL,'Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the brain and contributes to bicarbonate driven GABAergic neuron excitation. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2018]',NULL,NULL,NULL,NULL,NULL),(38877,'NCBI Gene PubMed Count',NULL,13454,NULL,NULL,NULL,14,NULL,NULL,NULL),(38878,'NCBI Gene Summary',NULL,13455,NULL,'The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(38879,'NCBI Gene PubMed Count',NULL,13455,NULL,NULL,NULL,41,NULL,NULL,NULL),(38880,'NCBI Gene PubMed Count',NULL,13456,NULL,NULL,NULL,13,NULL,NULL,NULL),(38881,'NCBI Gene Summary',NULL,13457,NULL,'This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so. Abundant expression is detected only in reconstructed epidermis and is restricted to differentiating keratinocytes. In addition, it can associate with transglutaminase 3, shown to be a key enzyme in the terminal differentiation of keratinocytes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38882,'NCBI Gene PubMed Count',NULL,13457,NULL,NULL,NULL,14,NULL,NULL,NULL),(38883,'NCBI Gene Summary',NULL,13458,NULL,'This gene encodes a member of the EF-hand calcium-binding protein family. It is one of three genes which encode an identical calcium binding protein which is one of the four subunits of phosphorylase kinase. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(38884,'NCBI Gene PubMed Count',NULL,13458,NULL,NULL,NULL,345,NULL,NULL,NULL),(38885,'NCBI Gene Summary',NULL,13459,NULL,'The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(38886,'NCBI Gene PubMed Count',NULL,13459,NULL,NULL,NULL,6,NULL,NULL,NULL),(38887,'NCBI Gene PubMed Count',NULL,13460,NULL,NULL,NULL,10,NULL,NULL,NULL),(38888,'NCBI Gene Summary',NULL,13461,NULL,'The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38889,'NCBI Gene PubMed Count',NULL,13461,NULL,NULL,NULL,89,NULL,NULL,NULL),(38890,'NCBI Gene Summary',NULL,13462,NULL,'This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(38891,'NCBI Gene PubMed Count',NULL,13462,NULL,NULL,NULL,69,NULL,NULL,NULL),(38892,'NCBI Gene Summary',NULL,13463,NULL,'This gene encodes a member of the protein arginine N-methyltransferase (PRMT) family. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to terminal guanidino nitrogen atoms. The encoded protein is a type I PRMT and is responsible for the majority of cellular arginine methylation activity. Increased expression of this gene may play a role in many types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(38893,'NCBI Gene PubMed Count',NULL,13463,NULL,NULL,NULL,182,NULL,NULL,NULL),(38894,'NCBI Gene PubMed Count',NULL,13464,NULL,NULL,NULL,5,NULL,NULL,NULL),(38895,'NCBI Gene PubMed Count',NULL,13465,NULL,NULL,NULL,7,NULL,NULL,NULL),(38896,'NCBI Gene Summary',NULL,13466,NULL,'This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(38897,'NCBI Gene PubMed Count',NULL,13466,NULL,NULL,NULL,30,NULL,NULL,NULL),(38898,'NCBI Gene PubMed Count',NULL,13467,NULL,NULL,NULL,8,NULL,NULL,NULL),(38899,'NCBI Gene PubMed Count',NULL,13468,NULL,NULL,NULL,15,NULL,NULL,NULL),(38900,'NCBI Gene PubMed Count',NULL,13469,NULL,NULL,NULL,13,NULL,NULL,NULL),(38901,'NCBI Gene Summary',NULL,13470,NULL,'Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(38902,'NCBI Gene PubMed Count',NULL,13470,NULL,NULL,NULL,74,NULL,NULL,NULL),(38903,'NCBI Gene PubMed Count',NULL,13471,NULL,NULL,NULL,20,NULL,NULL,NULL),(38904,'NCBI Gene Summary',NULL,13472,NULL,'The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(38905,'NCBI Gene PubMed Count',NULL,13472,NULL,NULL,NULL,30,NULL,NULL,NULL),(38906,'NCBI Gene Summary',NULL,13473,NULL,'The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(38907,'NCBI Gene PubMed Count',NULL,13473,NULL,NULL,NULL,169,NULL,NULL,NULL),(38908,'NCBI Gene Summary',NULL,13474,NULL,'This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(38909,'NCBI Gene PubMed Count',NULL,13474,NULL,NULL,NULL,18,NULL,NULL,NULL),(38910,'NCBI Gene Summary',NULL,13475,NULL,'The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(38911,'NCBI Gene PubMed Count',NULL,13475,NULL,NULL,NULL,22,NULL,NULL,NULL),(38912,'NCBI Gene Summary',NULL,13476,NULL,'This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(38913,'NCBI Gene PubMed Count',NULL,13476,NULL,NULL,NULL,175,NULL,NULL,NULL),(38914,'NCBI Gene Summary',NULL,13477,NULL,'The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(38915,'NCBI Gene PubMed Count',NULL,13477,NULL,NULL,NULL,346,NULL,NULL,NULL),(38916,'NCBI Gene Summary',NULL,13478,NULL,'This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38917,'NCBI Gene PubMed Count',NULL,13478,NULL,NULL,NULL,41,NULL,NULL,NULL),(38918,'NCBI Gene Summary',NULL,13479,NULL,'The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38919,'NCBI Gene PubMed Count',NULL,13479,NULL,NULL,NULL,22,NULL,NULL,NULL),(38920,'NCBI Gene Summary',NULL,13480,NULL,'The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38921,'NCBI Gene PubMed Count',NULL,13480,NULL,NULL,NULL,44,NULL,NULL,NULL),(38922,'NCBI Gene Summary',NULL,13481,NULL,'The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(38923,'NCBI Gene PubMed Count',NULL,13481,NULL,NULL,NULL,21,NULL,NULL,NULL),(38924,'NCBI Gene PubMed Count',NULL,13482,NULL,NULL,NULL,15,NULL,NULL,NULL),(38925,'NCBI Gene Summary',NULL,13483,NULL,'Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(38926,'NCBI Gene PubMed Count',NULL,13483,NULL,NULL,NULL,14,NULL,NULL,NULL),(38927,'NCBI Gene Summary',NULL,13484,NULL,'Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38928,'NCBI Gene PubMed Count',NULL,13484,NULL,NULL,NULL,53,NULL,NULL,NULL),(38929,'NCBI Gene Summary',NULL,13485,NULL,'ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(38930,'NCBI Gene PubMed Count',NULL,13485,NULL,NULL,NULL,6,NULL,NULL,NULL),(38931,'NCBI Gene Summary',NULL,13486,NULL,'Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38932,'NCBI Gene PubMed Count',NULL,13486,NULL,NULL,NULL,34,NULL,NULL,NULL),(38933,'NCBI Gene Summary',NULL,13487,NULL,'Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(38934,'NCBI Gene PubMed Count',NULL,13487,NULL,NULL,NULL,14,NULL,NULL,NULL),(38935,'NCBI Gene PubMed Count',NULL,13488,NULL,NULL,NULL,9,NULL,NULL,NULL),(38936,'NCBI Gene Summary',NULL,13489,NULL,'This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38937,'NCBI Gene PubMed Count',NULL,13489,NULL,NULL,NULL,12,NULL,NULL,NULL),(38938,'NCBI Gene PubMed Count',NULL,13490,NULL,NULL,NULL,23,NULL,NULL,NULL),(38939,'NCBI Gene Summary',NULL,13491,NULL,'This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38940,'NCBI Gene PubMed Count',NULL,13491,NULL,NULL,NULL,16,NULL,NULL,NULL),(38941,'NCBI Gene PubMed Count',NULL,13492,NULL,NULL,NULL,2,NULL,NULL,NULL),(38942,'NCBI Gene Summary',NULL,13493,NULL,'This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(38943,'NCBI Gene PubMed Count',NULL,13493,NULL,NULL,NULL,216,NULL,NULL,NULL),(38944,'NCBI Gene Summary',NULL,13494,NULL,'The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(38945,'NCBI Gene PubMed Count',NULL,13494,NULL,NULL,NULL,68,NULL,NULL,NULL),(38946,'NCBI Gene PubMed Count',NULL,13495,NULL,NULL,NULL,24,NULL,NULL,NULL),(38947,'NCBI Gene PubMed Count',NULL,13496,NULL,NULL,NULL,12,NULL,NULL,NULL),(38948,'NCBI Gene Summary',NULL,13497,NULL,'This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3\' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38949,'NCBI Gene PubMed Count',NULL,13497,NULL,NULL,NULL,15,NULL,NULL,NULL),(38950,'NCBI Gene Summary',NULL,13498,NULL,'BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(38951,'NCBI Gene PubMed Count',NULL,13498,NULL,NULL,NULL,13,NULL,NULL,NULL),(38952,'NCBI Gene Summary',NULL,13499,NULL,'The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(38953,'NCBI Gene PubMed Count',NULL,13499,NULL,NULL,NULL,75,NULL,NULL,NULL),(38954,'NCBI Gene Summary',NULL,13500,NULL,'ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38955,'NCBI Gene PubMed Count',NULL,13500,NULL,NULL,NULL,38,NULL,NULL,NULL),(38956,'NCBI Gene Summary',NULL,13501,NULL,'This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38957,'NCBI Gene PubMed Count',NULL,13501,NULL,NULL,NULL,202,NULL,NULL,NULL),(38958,'NCBI Gene Summary',NULL,13502,NULL,'The protein encoded by this gene is a member of the heat shock protein 70 (HSP70) family. It is localized in the lumen of the endoplasmic reticulum (ER), and is involved in the folding and assembly of proteins in the ER. As this protein interacts with many ER proteins, it may play a key role in monitoring protein transport through the cell.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(38959,'NCBI Gene PubMed Count',NULL,13502,NULL,NULL,NULL,511,NULL,NULL,NULL),(38960,'NCBI Gene Summary',NULL,13503,NULL,'The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(38961,'NCBI Gene PubMed Count',NULL,13503,NULL,NULL,NULL,183,NULL,NULL,NULL),(38962,'NCBI Gene PubMed Count',NULL,13504,NULL,NULL,NULL,8,NULL,NULL,NULL),(38963,'NCBI Gene Summary',NULL,13505,NULL,'The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(38964,'NCBI Gene PubMed Count',NULL,13505,NULL,NULL,NULL,23,NULL,NULL,NULL),(38965,'NCBI Gene Summary',NULL,13506,NULL,'This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(38966,'NCBI Gene PubMed Count',NULL,13506,NULL,NULL,NULL,59,NULL,NULL,NULL),(38967,'NCBI Gene Summary',NULL,13507,NULL,'This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3\' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(38968,'NCBI Gene PubMed Count',NULL,13507,NULL,NULL,NULL,73,NULL,NULL,NULL),(38969,'NCBI Gene Summary',NULL,13508,NULL,'Cell division control protein 42 (CDC42), a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg (binder of Rho GTPases) family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to CDC42 and regulate its function negatively. The encoded protein may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding. The protein may also play a role in septin organization and inducing pseudopodia formation in fibroblasts [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(38970,'NCBI Gene PubMed Count',NULL,13508,NULL,NULL,NULL,8,NULL,NULL,NULL),(38971,'NCBI Gene PubMed Count',NULL,13509,NULL,NULL,NULL,5,NULL,NULL,NULL),(38972,'NCBI Gene Summary',NULL,13510,NULL,'This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(38973,'NCBI Gene PubMed Count',NULL,13510,NULL,NULL,NULL,2627,NULL,NULL,NULL),(38974,'NCBI Gene Summary',NULL,13511,NULL,'This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(38975,'NCBI Gene PubMed Count',NULL,13511,NULL,NULL,NULL,23,NULL,NULL,NULL),(38976,'NCBI Gene PubMed Count',NULL,13512,NULL,NULL,NULL,13,NULL,NULL,NULL),(38977,'NCBI Gene Summary',NULL,13513,NULL,'This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38978,'NCBI Gene PubMed Count',NULL,13513,NULL,NULL,NULL,89,NULL,NULL,NULL),(38979,'NCBI Gene Summary',NULL,13514,NULL,'This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(38980,'NCBI Gene PubMed Count',NULL,13514,NULL,NULL,NULL,24,NULL,NULL,NULL),(38981,'NCBI Gene Summary',NULL,13515,NULL,'The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(38982,'NCBI Gene PubMed Count',NULL,13515,NULL,NULL,NULL,26,NULL,NULL,NULL),(38983,'NCBI Gene Summary',NULL,13516,NULL,'The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38984,'NCBI Gene PubMed Count',NULL,13516,NULL,NULL,NULL,295,NULL,NULL,NULL),(38985,'NCBI Gene PubMed Count',NULL,13517,NULL,NULL,NULL,9,NULL,NULL,NULL),(38986,'NCBI Gene PubMed Count',NULL,13518,NULL,NULL,NULL,5,NULL,NULL,NULL),(38987,'NCBI Gene PubMed Count',NULL,13519,NULL,NULL,NULL,3,NULL,NULL,NULL),(38988,'NCBI Gene PubMed Count',NULL,13520,NULL,NULL,NULL,3,NULL,NULL,NULL),(38989,'NCBI Gene Summary',NULL,13521,NULL,'The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(38990,'NCBI Gene PubMed Count',NULL,13521,NULL,NULL,NULL,14,NULL,NULL,NULL),(38991,'NCBI Gene Summary',NULL,13522,NULL,'Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(38992,'NCBI Gene PubMed Count',NULL,13522,NULL,NULL,NULL,59,NULL,NULL,NULL),(38993,'NCBI Gene Summary',NULL,13523,NULL,'This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein\'s shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein \"BBSome\" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(38994,'NCBI Gene PubMed Count',NULL,13523,NULL,NULL,NULL,49,NULL,NULL,NULL),(38995,'NCBI Gene Summary',NULL,13524,NULL,'This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(38996,'NCBI Gene PubMed Count',NULL,13524,NULL,NULL,NULL,72,NULL,NULL,NULL),(38997,'NCBI Gene PubMed Count',NULL,13525,NULL,NULL,NULL,7,NULL,NULL,NULL),(38998,'NCBI Gene Summary',NULL,13526,NULL,'This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(38999,'NCBI Gene PubMed Count',NULL,13526,NULL,NULL,NULL,45,NULL,NULL,NULL),(39000,'NCBI Gene Summary',NULL,13527,NULL,'The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(39001,'NCBI Gene PubMed Count',NULL,13527,NULL,NULL,NULL,324,NULL,NULL,NULL),(39002,'NCBI Gene Summary',NULL,13528,NULL,'This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(39003,'NCBI Gene PubMed Count',NULL,13528,NULL,NULL,NULL,12,NULL,NULL,NULL),(39004,'NCBI Gene Summary',NULL,13529,NULL,'A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39005,'NCBI Gene PubMed Count',NULL,13529,NULL,NULL,NULL,364,NULL,NULL,NULL),(39006,'NCBI Gene PubMed Count',NULL,13530,NULL,NULL,NULL,18,NULL,NULL,NULL),(39007,'NCBI Gene Summary',NULL,13531,NULL,'This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(39008,'NCBI Gene PubMed Count',NULL,13531,NULL,NULL,NULL,148,NULL,NULL,NULL),(39009,'NCBI Gene Summary',NULL,13532,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(39010,'NCBI Gene PubMed Count',NULL,13532,NULL,NULL,NULL,722,NULL,NULL,NULL),(39011,'NCBI Gene Summary',NULL,13533,NULL,'This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2B (bolA family member 2B). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Related pseudogenes are found multiple different chromosomes. Alternative splicing results in multiple transcript variants. Transcripts initiating at this locus may extend into downstream SMG1 pseudogene 6 (SMG1P6) and encode fusion proteins with a C-terminus related to SMG1 phosphatidylinositol 3-kinase-related kinase. A readthrough locus is represented with GeneID:107282092. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(39012,'NCBI Gene PubMed Count',NULL,13533,NULL,NULL,NULL,14,NULL,NULL,NULL),(39013,'NCBI Gene Summary',NULL,13534,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(39014,'NCBI Gene PubMed Count',NULL,13534,NULL,NULL,NULL,406,NULL,NULL,NULL),(39015,'NCBI Gene Summary',NULL,13535,NULL,'This locus represents naturally occurring read-through transcription between the neighboring COMM domain-containing protein 3 and polycomb complex protein BMI-1 genes on chromosome 10. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(39016,'NCBI Gene PubMed Count',NULL,13535,NULL,NULL,NULL,1,NULL,NULL,NULL),(39017,'NCBI Gene Summary',NULL,13536,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, growth differentiation factor 9 (GDF9). This protein plays a role in oocyte maturation and follicular development, through activation of granulosa cells. Defects in this gene are the cause of ovarian dysgenesis and are associated with premature ovarian failure. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(39018,'NCBI Gene PubMed Count',NULL,13536,NULL,NULL,NULL,71,NULL,NULL,NULL),(39019,'NCBI Gene PubMed Count',NULL,13537,NULL,NULL,NULL,19,NULL,NULL,NULL),(39020,'NCBI Gene Summary',NULL,13538,NULL,'The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(39021,'NCBI Gene PubMed Count',NULL,13538,NULL,NULL,NULL,14,NULL,NULL,NULL),(39022,'NCBI Gene Summary',NULL,13539,NULL,'This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(39023,'NCBI Gene PubMed Count',NULL,13539,NULL,NULL,NULL,10,NULL,NULL,NULL),(39024,'NCBI Gene Summary',NULL,13540,NULL,'This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(39025,'NCBI Gene PubMed Count',NULL,13540,NULL,NULL,NULL,19,NULL,NULL,NULL),(39026,'NCBI Gene Summary',NULL,13541,NULL,'This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(39027,'NCBI Gene PubMed Count',NULL,13541,NULL,NULL,NULL,108,NULL,NULL,NULL),(39028,'NCBI Gene Summary',NULL,13542,NULL,'This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The \'O\' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39029,'NCBI Gene PubMed Count',NULL,13542,NULL,NULL,NULL,253,NULL,NULL,NULL),(39030,'NCBI Gene Summary',NULL,13543,NULL,'This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme\'s endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(39031,'NCBI Gene PubMed Count',NULL,13543,NULL,NULL,NULL,1046,NULL,NULL,NULL),(39032,'NCBI Gene PubMed Count',NULL,13544,NULL,NULL,NULL,11,NULL,NULL,NULL),(39033,'NCBI Gene PubMed Count',NULL,13545,NULL,NULL,NULL,23,NULL,NULL,NULL),(39034,'NCBI Gene Summary',NULL,13546,NULL,'This gene encodes a member of the cysteine-rich secretory protein (CRISP) family within the CRISP, antigen 5 and pathogenesis-related 1 proteins superfamily. The encoded protein has an N-terminal CRISP, antigen 5 and pathogenesis-related 1 proteins domain, a hinge region, and a C-terminal ion channel regulator domain. This protein contains cysteine residues, located in both the N- and C-terminal domains, that form eight disulfide bonds, a distinguishing characteristic of this family. This gene is expressed in the male reproductive tract where it plays a role in sperm function and fertilization, and the female reproductive tract where it plays a role in endometrial receptivity for embryo implantation. This gene is upregulated in certain types of prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(39035,'NCBI Gene PubMed Count',NULL,13546,NULL,NULL,NULL,46,NULL,NULL,NULL),(39036,'NCBI Gene Summary',NULL,13547,NULL,'This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(39037,'NCBI Gene PubMed Count',NULL,13547,NULL,NULL,NULL,24,NULL,NULL,NULL),(39038,'NCBI Gene Summary',NULL,13548,NULL,'This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(39039,'NCBI Gene PubMed Count',NULL,13548,NULL,NULL,NULL,86,NULL,NULL,NULL),(39040,'NCBI Gene Summary',NULL,13549,NULL,'The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(39041,'NCBI Gene PubMed Count',NULL,13549,NULL,NULL,NULL,142,NULL,NULL,NULL),(39042,'NCBI Gene Summary',NULL,13550,NULL,'This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(39043,'NCBI Gene PubMed Count',NULL,13550,NULL,NULL,NULL,1151,NULL,NULL,NULL),(39044,'NCBI Gene Summary',NULL,13551,NULL,'This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(39045,'NCBI Gene PubMed Count',NULL,13551,NULL,NULL,NULL,55,NULL,NULL,NULL),(39046,'NCBI Gene PubMed Count',NULL,13552,NULL,NULL,NULL,27,NULL,NULL,NULL),(39047,'NCBI Gene PubMed Count',NULL,13553,NULL,NULL,NULL,13,NULL,NULL,NULL),(39048,'NCBI Gene Summary',NULL,13554,NULL,'This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39049,'NCBI Gene PubMed Count',NULL,13554,NULL,NULL,NULL,15,NULL,NULL,NULL),(39050,'NCBI Gene Summary',NULL,13555,NULL,'This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers.  It contains a 5\' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39051,'NCBI Gene PubMed Count',NULL,13555,NULL,NULL,NULL,31,NULL,NULL,NULL),(39052,'NCBI Gene PubMed Count',NULL,13556,NULL,NULL,NULL,10,NULL,NULL,NULL),(39053,'NCBI Gene Summary',NULL,13557,NULL,'Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39054,'NCBI Gene PubMed Count',NULL,13557,NULL,NULL,NULL,29,NULL,NULL,NULL),(39055,'NCBI Gene PubMed Count',NULL,13558,NULL,NULL,NULL,10,NULL,NULL,NULL),(39056,'NCBI Gene Summary',NULL,13559,NULL,'The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39057,'NCBI Gene PubMed Count',NULL,13559,NULL,NULL,NULL,494,NULL,NULL,NULL),(39058,'NCBI Gene Summary',NULL,13560,NULL,'The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39059,'NCBI Gene PubMed Count',NULL,13560,NULL,NULL,NULL,32,NULL,NULL,NULL),(39060,'NCBI Gene Summary',NULL,13561,NULL,'This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39061,'NCBI Gene PubMed Count',NULL,13561,NULL,NULL,NULL,9,NULL,NULL,NULL),(39062,'NCBI Gene PubMed Count',NULL,13562,NULL,NULL,NULL,13,NULL,NULL,NULL),(39063,'NCBI Gene Summary',NULL,13563,NULL,'This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(39064,'NCBI Gene PubMed Count',NULL,13563,NULL,NULL,NULL,12,NULL,NULL,NULL),(39065,'NCBI Gene Summary',NULL,13564,NULL,'This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39066,'NCBI Gene PubMed Count',NULL,13564,NULL,NULL,NULL,121,NULL,NULL,NULL),(39067,'NCBI Gene Summary',NULL,13565,NULL,'This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(39068,'NCBI Gene PubMed Count',NULL,13565,NULL,NULL,NULL,57,NULL,NULL,NULL),(39069,'NCBI Gene Summary',NULL,13566,NULL,'This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39070,'NCBI Gene PubMed Count',NULL,13566,NULL,NULL,NULL,40,NULL,NULL,NULL),(39071,'NCBI Gene PubMed Count',NULL,13567,NULL,NULL,NULL,22,NULL,NULL,NULL),(39072,'NCBI Gene Summary',NULL,13568,NULL,'This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39073,'NCBI Gene PubMed Count',NULL,13568,NULL,NULL,NULL,45,NULL,NULL,NULL),(39074,'NCBI Gene Summary',NULL,13569,NULL,'This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(39075,'NCBI Gene PubMed Count',NULL,13569,NULL,NULL,NULL,191,NULL,NULL,NULL),(39076,'NCBI Gene PubMed Count',NULL,13570,NULL,NULL,NULL,25,NULL,NULL,NULL),(39077,'NCBI Gene PubMed Count',NULL,13571,NULL,NULL,NULL,21,NULL,NULL,NULL),(39078,'NCBI Gene PubMed Count',NULL,13572,NULL,NULL,NULL,4,NULL,NULL,NULL),(39079,'NCBI Gene Summary',NULL,13573,NULL,'This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(39080,'NCBI Gene PubMed Count',NULL,13573,NULL,NULL,NULL,19,NULL,NULL,NULL),(39081,'NCBI Gene Summary',NULL,13574,NULL,'This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(39082,'NCBI Gene PubMed Count',NULL,13574,NULL,NULL,NULL,32,NULL,NULL,NULL),(39083,'NCBI Gene PubMed Count',NULL,13575,NULL,NULL,NULL,8,NULL,NULL,NULL),(39084,'NCBI Gene PubMed Count',NULL,13576,NULL,NULL,NULL,6,NULL,NULL,NULL),(39085,'NCBI Gene PubMed Count',NULL,13577,NULL,NULL,NULL,3,NULL,NULL,NULL),(39086,'NCBI Gene PubMed Count',NULL,13578,NULL,NULL,NULL,6,NULL,NULL,NULL),(39087,'NCBI Gene Summary',NULL,13579,NULL,'This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39088,'NCBI Gene PubMed Count',NULL,13579,NULL,NULL,NULL,213,NULL,NULL,NULL),(39089,'NCBI Gene Summary',NULL,13580,NULL,'The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(39090,'NCBI Gene PubMed Count',NULL,13580,NULL,NULL,NULL,44,NULL,NULL,NULL),(39091,'NCBI Gene Summary',NULL,13581,NULL,'This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(39092,'NCBI Gene PubMed Count',NULL,13581,NULL,NULL,NULL,22,NULL,NULL,NULL),(39093,'NCBI Gene Summary',NULL,13582,NULL,'This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(39094,'NCBI Gene PubMed Count',NULL,13582,NULL,NULL,NULL,53,NULL,NULL,NULL),(39095,'NCBI Gene PubMed Count',NULL,13583,NULL,NULL,NULL,1,NULL,NULL,NULL),(39096,'NCBI Gene Summary',NULL,13584,NULL,'This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(39097,'NCBI Gene PubMed Count',NULL,13584,NULL,NULL,NULL,118,NULL,NULL,NULL),(39098,'NCBI Gene Summary',NULL,13585,NULL,'This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39099,'NCBI Gene PubMed Count',NULL,13585,NULL,NULL,NULL,26,NULL,NULL,NULL),(39100,'NCBI Gene Summary',NULL,13586,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(39101,'NCBI Gene PubMed Count',NULL,13586,NULL,NULL,NULL,25,NULL,NULL,NULL),(39102,'NCBI Gene Summary',NULL,13587,NULL,'BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39103,'NCBI Gene PubMed Count',NULL,13587,NULL,NULL,NULL,38,NULL,NULL,NULL),(39104,'NCBI Gene Summary',NULL,13588,NULL,'The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39105,'NCBI Gene PubMed Count',NULL,13588,NULL,NULL,NULL,232,NULL,NULL,NULL),(39106,'NCBI Gene Summary',NULL,13589,NULL,'This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39107,'NCBI Gene PubMed Count',NULL,13589,NULL,NULL,NULL,10,NULL,NULL,NULL),(39108,'NCBI Gene Summary',NULL,13590,NULL,'This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(39109,'NCBI Gene PubMed Count',NULL,13590,NULL,NULL,NULL,27,NULL,NULL,NULL),(39110,'NCBI Gene Summary',NULL,13591,NULL,'This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(39111,'NCBI Gene PubMed Count',NULL,13591,NULL,NULL,NULL,22,NULL,NULL,NULL),(39112,'NCBI Gene Summary',NULL,13592,NULL,'Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3\' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(39113,'NCBI Gene PubMed Count',NULL,13592,NULL,NULL,NULL,47,NULL,NULL,NULL),(39114,'NCBI Gene Summary',NULL,13593,NULL,'This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39115,'NCBI Gene PubMed Count',NULL,13593,NULL,NULL,NULL,35,NULL,NULL,NULL),(39116,'NCBI Gene Summary',NULL,13594,NULL,'This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(39117,'NCBI Gene PubMed Count',NULL,13594,NULL,NULL,NULL,32,NULL,NULL,NULL),(39118,'NCBI Gene Summary',NULL,13595,NULL,'This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(39119,'NCBI Gene PubMed Count',NULL,13595,NULL,NULL,NULL,191,NULL,NULL,NULL),(39120,'NCBI Gene Summary',NULL,13596,NULL,'The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(39121,'NCBI Gene PubMed Count',NULL,13596,NULL,NULL,NULL,49,NULL,NULL,NULL),(39122,'NCBI Gene Summary',NULL,13597,NULL,'This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(39123,'NCBI Gene PubMed Count',NULL,13597,NULL,NULL,NULL,38,NULL,NULL,NULL),(39124,'NCBI Gene Summary',NULL,13598,NULL,'BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39125,'NCBI Gene PubMed Count',NULL,13598,NULL,NULL,NULL,46,NULL,NULL,NULL),(39126,'NCBI Gene Summary',NULL,13599,NULL,'The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(39127,'NCBI Gene PubMed Count',NULL,13599,NULL,NULL,NULL,15,NULL,NULL,NULL),(39128,'NCBI Gene Summary',NULL,13600,NULL,'This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(39129,'NCBI Gene PubMed Count',NULL,13600,NULL,NULL,NULL,1740,NULL,NULL,NULL),(39130,'NCBI Gene Summary',NULL,13601,NULL,'This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39131,'NCBI Gene PubMed Count',NULL,13601,NULL,NULL,NULL,110,NULL,NULL,NULL),(39132,'NCBI Gene Summary',NULL,13602,NULL,'The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39133,'NCBI Gene PubMed Count',NULL,13602,NULL,NULL,NULL,20,NULL,NULL,NULL),(39134,'NCBI Gene Summary',NULL,13603,NULL,'This gene encodes a protein which has two BEN domains in the C-terminus. These domains are found in proteins which participate in protein and DNA interactions which occur during chromatin restructuring or transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(39135,'NCBI Gene PubMed Count',NULL,13603,NULL,NULL,NULL,6,NULL,NULL,NULL),(39136,'NCBI Gene PubMed Count',NULL,13604,NULL,NULL,NULL,3,NULL,NULL,NULL),(39137,'NCBI Gene PubMed Count',NULL,13605,NULL,NULL,NULL,10,NULL,NULL,NULL),(39138,'NCBI Gene PubMed Count',NULL,13606,NULL,NULL,NULL,11,NULL,NULL,NULL),(39139,'NCBI Gene Summary',NULL,13607,NULL,'The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(39140,'NCBI Gene PubMed Count',NULL,13607,NULL,NULL,NULL,14,NULL,NULL,NULL),(39141,'NCBI Gene Summary',NULL,13608,NULL,'This transcribed pseudogene is similar to two functional genes. The 5\' portion of the pseudogene is related to glucuronidase, beta, and the 3\' portion is related to immunoglobulin lambda-like polypeptide 1. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(39142,'NCBI Gene PubMed Count',NULL,13608,NULL,NULL,NULL,4,NULL,NULL,NULL),(39143,'NCBI Gene Summary',NULL,13609,NULL,'This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(39144,'NCBI Gene PubMed Count',NULL,13609,NULL,NULL,NULL,62,NULL,NULL,NULL),(39145,'NCBI Gene PubMed Count',NULL,13610,NULL,NULL,NULL,1,NULL,NULL,NULL),(39146,'NCBI Gene Summary',NULL,13611,NULL,'This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39147,'NCBI Gene PubMed Count',NULL,13611,NULL,NULL,NULL,89,NULL,NULL,NULL),(39148,'NCBI Gene Summary',NULL,13612,NULL,'The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39149,'NCBI Gene PubMed Count',NULL,13612,NULL,NULL,NULL,13,NULL,NULL,NULL),(39150,'NCBI Gene Summary',NULL,13613,NULL,'This gene encodes a putative transcription factor with two LIM zinc-binding domains. The encoded protein may participate in the differentiation of smooth muscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(39151,'NCBI Gene PubMed Count',NULL,13613,NULL,NULL,NULL,18,NULL,NULL,NULL),(39152,'NCBI Gene Summary',NULL,13614,NULL,'This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating downstream of the interspersed NNAT gene (GeneID:4826) are expressed from the paternal allele. Transcripts at this locus may also undergo A to I editing, resulting in amino acid changes at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(39153,'NCBI Gene PubMed Count',NULL,13614,NULL,NULL,NULL,28,NULL,NULL,NULL),(39154,'NCBI Gene Summary',NULL,13615,NULL,'This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(39155,'NCBI Gene PubMed Count',NULL,13615,NULL,NULL,NULL,16,NULL,NULL,NULL),(39156,'NCBI Gene Summary',NULL,13616,NULL,'The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(39157,'NCBI Gene PubMed Count',NULL,13616,NULL,NULL,NULL,77,NULL,NULL,NULL),(39158,'NCBI Gene Summary',NULL,13617,NULL,'This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39159,'NCBI Gene PubMed Count',NULL,13617,NULL,NULL,NULL,38,NULL,NULL,NULL),(39160,'NCBI Gene Summary',NULL,13618,NULL,'This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(39161,'NCBI Gene PubMed Count',NULL,13618,NULL,NULL,NULL,152,NULL,NULL,NULL),(39162,'NCBI Gene PubMed Count',NULL,13619,NULL,NULL,NULL,8,NULL,NULL,NULL),(39163,'NCBI Gene PubMed Count',NULL,13620,NULL,NULL,NULL,13,NULL,NULL,NULL),(39164,'NCBI Gene Summary',NULL,13621,NULL,'This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein\'s expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(39165,'NCBI Gene PubMed Count',NULL,13621,NULL,NULL,NULL,31,NULL,NULL,NULL),(39166,'NCBI Gene Summary',NULL,13622,NULL,'Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39167,'NCBI Gene PubMed Count',NULL,13622,NULL,NULL,NULL,38,NULL,NULL,NULL),(39168,'NCBI Gene Summary',NULL,13623,NULL,'This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39169,'NCBI Gene PubMed Count',NULL,13623,NULL,NULL,NULL,37,NULL,NULL,NULL),(39170,'NCBI Gene PubMed Count',NULL,13624,NULL,NULL,NULL,26,NULL,NULL,NULL),(39171,'NCBI Gene PubMed Count',NULL,13625,NULL,NULL,NULL,30,NULL,NULL,NULL),(39172,'NCBI Gene PubMed Count',NULL,13626,NULL,NULL,NULL,10,NULL,NULL,NULL),(39173,'NCBI Gene Summary',NULL,13627,NULL,'More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(39174,'NCBI Gene PubMed Count',NULL,13627,NULL,NULL,NULL,20,NULL,NULL,NULL),(39175,'NCBI Gene Summary',NULL,13628,NULL,'This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39176,'NCBI Gene PubMed Count',NULL,13628,NULL,NULL,NULL,530,NULL,NULL,NULL),(39177,'NCBI Gene PubMed Count',NULL,13629,NULL,NULL,NULL,47,NULL,NULL,NULL),(39178,'NCBI Gene Summary',NULL,13630,NULL,'This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(39179,'NCBI Gene PubMed Count',NULL,13630,NULL,NULL,NULL,11,NULL,NULL,NULL),(39180,'NCBI Gene Summary',NULL,13631,NULL,'The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(39181,'NCBI Gene PubMed Count',NULL,13631,NULL,NULL,NULL,8,NULL,NULL,NULL),(39182,'NCBI Gene Summary',NULL,13632,NULL,'Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(39183,'NCBI Gene PubMed Count',NULL,13632,NULL,NULL,NULL,99,NULL,NULL,NULL),(39184,'NCBI Gene Summary',NULL,13633,NULL,'This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(39185,'NCBI Gene PubMed Count',NULL,13633,NULL,NULL,NULL,12,NULL,NULL,NULL),(39186,'NCBI Gene Summary',NULL,13634,NULL,'BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell\'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39187,'NCBI Gene PubMed Count',NULL,13634,NULL,NULL,NULL,29,NULL,NULL,NULL),(39188,'NCBI Gene Summary',NULL,13635,NULL,'This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39189,'NCBI Gene PubMed Count',NULL,13635,NULL,NULL,NULL,16,NULL,NULL,NULL),(39190,'NCBI Gene Summary',NULL,13636,NULL,'This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(39191,'NCBI Gene PubMed Count',NULL,13636,NULL,NULL,NULL,185,NULL,NULL,NULL),(39192,'NCBI Gene Summary',NULL,13637,NULL,'The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3\'-5\' helicase activity.  The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39193,'NCBI Gene PubMed Count',NULL,13637,NULL,NULL,NULL,235,NULL,NULL,NULL),(39194,'NCBI Gene PubMed Count',NULL,13638,NULL,NULL,NULL,1,NULL,NULL,NULL),(39195,'NCBI Gene PubMed Count',NULL,13639,NULL,NULL,NULL,3,NULL,NULL,NULL),(39196,'NCBI Gene Summary',NULL,13640,NULL,'The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(39197,'NCBI Gene PubMed Count',NULL,13640,NULL,NULL,NULL,143,NULL,NULL,NULL),(39198,'NCBI Gene Summary',NULL,13641,NULL,'The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(39199,'NCBI Gene PubMed Count',NULL,13641,NULL,NULL,NULL,31,NULL,NULL,NULL),(39200,'NCBI Gene Summary',NULL,13642,NULL,'This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39201,'NCBI Gene PubMed Count',NULL,13642,NULL,NULL,NULL,20,NULL,NULL,NULL),(39202,'NCBI Gene Summary',NULL,13643,NULL,'The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39203,'NCBI Gene PubMed Count',NULL,13643,NULL,NULL,NULL,885,NULL,NULL,NULL),(39204,'NCBI Gene Summary',NULL,13644,NULL,'The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI (\'imitation switch\') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(39205,'NCBI Gene PubMed Count',NULL,13644,NULL,NULL,NULL,23,NULL,NULL,NULL),(39206,'NCBI Gene Summary',NULL,13646,NULL,'This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(39207,'NCBI Gene PubMed Count',NULL,13646,NULL,NULL,NULL,46,NULL,NULL,NULL),(39208,'NCBI Gene PubMed Count',NULL,13647,NULL,NULL,NULL,8,NULL,NULL,NULL),(39209,'NCBI Gene Summary',NULL,13648,NULL,'This gene encodes a member of the nerve growth factor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. Binding of this protein to its cognate receptor promotes neuronal survival in the adult brain. Expression of this gene is reduced in Alzheimer\'s, Parkinson\'s, and Huntington\'s disease patients. This gene may play a role in the regulation of the stress response and in the biology of mood disorders. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(39210,'NCBI Gene PubMed Count',NULL,13648,NULL,NULL,NULL,1922,NULL,NULL,NULL),(39211,'NCBI Gene Summary',NULL,13649,NULL,'This gene encodes a protein that regulates autophagy, a catabolic process of degradation induced by starvation. The encoded protein is a component of the phosphatidylinositol-3-kinase (PI3K) complex which mediates vesicle-trafficking processes. This protein is thought to play a role in multiple cellular processes, including tumorigenesis, neurodegeneration and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(39212,'NCBI Gene PubMed Count',NULL,13649,NULL,NULL,NULL,410,NULL,NULL,NULL),(39213,'NCBI Gene Summary',NULL,13650,NULL,'This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(39214,'NCBI Gene PubMed Count',NULL,13650,NULL,NULL,NULL,8,NULL,NULL,NULL),(39215,'NCBI Gene Summary',NULL,13651,NULL,'This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(39216,'NCBI Gene PubMed Count',NULL,13651,NULL,NULL,NULL,162,NULL,NULL,NULL),(39217,'NCBI Gene Summary',NULL,13652,NULL,'This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(39218,'NCBI Gene PubMed Count',NULL,13652,NULL,NULL,NULL,19,NULL,NULL,NULL),(39219,'NCBI Gene PubMed Count',NULL,13653,NULL,NULL,NULL,20,NULL,NULL,NULL),(39220,'NCBI Gene PubMed Count',NULL,13654,NULL,NULL,NULL,4,NULL,NULL,NULL),(39221,'NCBI Gene Summary',NULL,13655,NULL,'This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer\'s disease patients. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(39222,'NCBI Gene PubMed Count',NULL,13655,NULL,NULL,NULL,353,NULL,NULL,NULL),(39223,'NCBI Gene Summary',NULL,13656,NULL,'This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer\'s disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(39224,'NCBI Gene PubMed Count',NULL,13656,NULL,NULL,NULL,57,NULL,NULL,NULL),(39225,'NCBI Gene Summary',NULL,13657,NULL,'The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39226,'NCBI Gene PubMed Count',NULL,13657,NULL,NULL,NULL,30,NULL,NULL,NULL),(39227,'NCBI Gene PubMed Count',NULL,13658,NULL,NULL,NULL,7,NULL,NULL,NULL),(39228,'NCBI Gene PubMed Count',NULL,13659,NULL,NULL,NULL,28,NULL,NULL,NULL),(39229,'NCBI Gene Summary',NULL,13660,NULL,'This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39230,'NCBI Gene PubMed Count',NULL,13660,NULL,NULL,NULL,15,NULL,NULL,NULL),(39231,'NCBI Gene Summary',NULL,13661,NULL,'Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39232,'NCBI Gene PubMed Count',NULL,13661,NULL,NULL,NULL,20,NULL,NULL,NULL),(39233,'NCBI Gene Summary',NULL,13662,NULL,'This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(39234,'NCBI Gene PubMed Count',NULL,13662,NULL,NULL,NULL,17,NULL,NULL,NULL),(39235,'NCBI Gene PubMed Count',NULL,13663,NULL,NULL,NULL,14,NULL,NULL,NULL),(39236,'NCBI Gene Summary',NULL,13664,NULL,'The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(39237,'NCBI Gene PubMed Count',NULL,13664,NULL,NULL,NULL,165,NULL,NULL,NULL),(39238,'NCBI Gene PubMed Count',NULL,13665,NULL,NULL,NULL,5,NULL,NULL,NULL),(39239,'NCBI Gene PubMed Count',NULL,13666,NULL,NULL,NULL,15,NULL,NULL,NULL),(39240,'NCBI Gene Summary',NULL,13667,NULL,'This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(39241,'NCBI Gene PubMed Count',NULL,13667,NULL,NULL,NULL,22,NULL,NULL,NULL),(39242,'NCBI Gene PubMed Count',NULL,13668,NULL,NULL,NULL,10,NULL,NULL,NULL),(39243,'NCBI Gene Summary',NULL,13669,NULL,'Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(39244,'NCBI Gene PubMed Count',NULL,13669,NULL,NULL,NULL,31,NULL,NULL,NULL),(39245,'NCBI Gene Summary',NULL,13670,NULL,'Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39246,'NCBI Gene PubMed Count',NULL,13670,NULL,NULL,NULL,55,NULL,NULL,NULL),(39247,'NCBI Gene Summary',NULL,13671,NULL,'This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39248,'NCBI Gene PubMed Count',NULL,13671,NULL,NULL,NULL,35,NULL,NULL,NULL),(39249,'NCBI Gene PubMed Count',NULL,13672,NULL,NULL,NULL,8,NULL,NULL,NULL),(39250,'NCBI Gene Summary',NULL,13673,NULL,'This gene encodes a member of the annexin family.  Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways.  The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39251,'NCBI Gene PubMed Count',NULL,13673,NULL,NULL,NULL,25,NULL,NULL,NULL),(39252,'NCBI Gene Summary',NULL,13674,NULL,'This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39253,'NCBI Gene PubMed Count',NULL,13674,NULL,NULL,NULL,47,NULL,NULL,NULL),(39254,'NCBI Gene Summary',NULL,13675,NULL,'The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer\'s disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product\'s nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer\'s disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(39255,'NCBI Gene PubMed Count',NULL,13675,NULL,NULL,NULL,92,NULL,NULL,NULL),(39256,'NCBI Gene Summary',NULL,13676,NULL,'The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(39257,'NCBI Gene PubMed Count',NULL,13676,NULL,NULL,NULL,113,NULL,NULL,NULL),(39258,'NCBI Gene Summary',NULL,13677,NULL,'This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(39259,'NCBI Gene PubMed Count',NULL,13677,NULL,NULL,NULL,35,NULL,NULL,NULL),(39260,'NCBI Gene Summary',NULL,13678,NULL,'Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5\' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(39261,'NCBI Gene PubMed Count',NULL,13678,NULL,NULL,NULL,15,NULL,NULL,NULL),(39262,'NCBI Gene Summary',NULL,13679,NULL,'Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0).  Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39263,'NCBI Gene PubMed Count',NULL,13679,NULL,NULL,NULL,63,NULL,NULL,NULL),(39264,'NCBI Gene PubMed Count',NULL,13680,NULL,NULL,NULL,3,NULL,NULL,NULL),(39265,'NCBI Gene Summary',NULL,13681,NULL,'This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(39266,'NCBI Gene PubMed Count',NULL,13681,NULL,NULL,NULL,64,NULL,NULL,NULL),(39267,'NCBI Gene PubMed Count',NULL,13682,NULL,NULL,NULL,15,NULL,NULL,NULL),(39268,'NCBI Gene Summary',NULL,13683,NULL,'This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(39269,'NCBI Gene PubMed Count',NULL,13683,NULL,NULL,NULL,300,NULL,NULL,NULL),(39270,'NCBI Gene Summary',NULL,13684,NULL,'This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(39271,'NCBI Gene PubMed Count',NULL,13684,NULL,NULL,NULL,37,NULL,NULL,NULL),(39272,'NCBI Gene Summary',NULL,13685,NULL,'Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(39273,'NCBI Gene PubMed Count',NULL,13685,NULL,NULL,NULL,22,NULL,NULL,NULL),(39274,'NCBI Gene Summary',NULL,13686,NULL,'ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(39275,'NCBI Gene PubMed Count',NULL,13686,NULL,NULL,NULL,1,NULL,NULL,NULL),(39276,'NCBI Gene Summary',NULL,13687,NULL,'The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(39277,'NCBI Gene PubMed Count',NULL,13687,NULL,NULL,NULL,25,NULL,NULL,NULL),(39278,'NCBI Gene Summary',NULL,13688,NULL,'The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(39279,'NCBI Gene PubMed Count',NULL,13688,NULL,NULL,NULL,29,NULL,NULL,NULL),(39280,'NCBI Gene Summary',NULL,13689,NULL,'This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(39281,'NCBI Gene PubMed Count',NULL,13689,NULL,NULL,NULL,11,NULL,NULL,NULL),(39282,'NCBI Gene PubMed Count',NULL,13690,NULL,NULL,NULL,9,NULL,NULL,NULL),(39283,'NCBI Gene PubMed Count',NULL,13691,NULL,NULL,NULL,14,NULL,NULL,NULL),(39284,'NCBI Gene Summary',NULL,13692,NULL,'This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39285,'NCBI Gene PubMed Count',NULL,13692,NULL,NULL,NULL,15,NULL,NULL,NULL),(39286,'NCBI Gene Summary',NULL,13693,NULL,'This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(39287,'NCBI Gene PubMed Count',NULL,13693,NULL,NULL,NULL,3,NULL,NULL,NULL),(39288,'NCBI Gene Summary',NULL,13694,NULL,'The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(39289,'NCBI Gene PubMed Count',NULL,13694,NULL,NULL,NULL,52,NULL,NULL,NULL),(39290,'NCBI Gene Summary',NULL,13695,NULL,'The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39291,'NCBI Gene PubMed Count',NULL,13695,NULL,NULL,NULL,59,NULL,NULL,NULL),(39292,'NCBI Gene Summary',NULL,13696,NULL,'The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(39293,'NCBI Gene PubMed Count',NULL,13696,NULL,NULL,NULL,17,NULL,NULL,NULL),(39294,'NCBI Gene PubMed Count',NULL,13697,NULL,NULL,NULL,9,NULL,NULL,NULL),(39295,'NCBI Gene PubMed Count',NULL,13698,NULL,NULL,NULL,4,NULL,NULL,NULL),(39296,'NCBI Gene PubMed Count',NULL,13699,NULL,NULL,NULL,6,NULL,NULL,NULL),(39297,'NCBI Gene Summary',NULL,13700,NULL,'This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(39298,'NCBI Gene PubMed Count',NULL,13700,NULL,NULL,NULL,97,NULL,NULL,NULL),(39299,'NCBI Gene Summary',NULL,13701,NULL,'This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39300,'NCBI Gene PubMed Count',NULL,13701,NULL,NULL,NULL,30,NULL,NULL,NULL),(39301,'NCBI Gene Summary',NULL,13702,NULL,'Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(39302,'NCBI Gene PubMed Count',NULL,13702,NULL,NULL,NULL,25,NULL,NULL,NULL),(39303,'NCBI Gene Summary',NULL,13703,NULL,'The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(39304,'NCBI Gene PubMed Count',NULL,13703,NULL,NULL,NULL,64,NULL,NULL,NULL),(39305,'NCBI Gene Summary',NULL,13704,NULL,'The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(39306,'NCBI Gene PubMed Count',NULL,13704,NULL,NULL,NULL,20,NULL,NULL,NULL),(39307,'NCBI Gene Summary',NULL,13705,NULL,'This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(39308,'NCBI Gene PubMed Count',NULL,13705,NULL,NULL,NULL,24,NULL,NULL,NULL),(39309,'NCBI Gene PubMed Count',NULL,13706,NULL,NULL,NULL,1,NULL,NULL,NULL),(39310,'NCBI Gene Summary',NULL,13707,NULL,'This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(39311,'NCBI Gene PubMed Count',NULL,13707,NULL,NULL,NULL,16,NULL,NULL,NULL),(39312,'NCBI Gene PubMed Count',NULL,13708,NULL,NULL,NULL,7,NULL,NULL,NULL),(39313,'NCBI Gene Summary',NULL,13709,NULL,'The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(39314,'NCBI Gene PubMed Count',NULL,13709,NULL,NULL,NULL,17,NULL,NULL,NULL),(39315,'NCBI Gene Summary',NULL,13710,NULL,'This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(39316,'NCBI Gene PubMed Count',NULL,13710,NULL,NULL,NULL,28,NULL,NULL,NULL),(39317,'NCBI Gene Summary',NULL,13711,NULL,'This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39318,'NCBI Gene PubMed Count',NULL,13711,NULL,NULL,NULL,20,NULL,NULL,NULL),(39319,'NCBI Gene Summary',NULL,13712,NULL,'The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(39320,'NCBI Gene PubMed Count',NULL,13712,NULL,NULL,NULL,400,NULL,NULL,NULL),(39321,'NCBI Gene Summary',NULL,13713,NULL,'This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(39322,'NCBI Gene PubMed Count',NULL,13713,NULL,NULL,NULL,422,NULL,NULL,NULL),(39323,'NCBI Gene Summary',NULL,13714,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(39324,'NCBI Gene PubMed Count',NULL,13714,NULL,NULL,NULL,19,NULL,NULL,NULL),(39325,'NCBI Gene Summary',NULL,13715,NULL,'This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39326,'NCBI Gene PubMed Count',NULL,13715,NULL,NULL,NULL,25,NULL,NULL,NULL),(39327,'NCBI Gene Summary',NULL,13716,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(39328,'NCBI Gene PubMed Count',NULL,13716,NULL,NULL,NULL,17,NULL,NULL,NULL),(39329,'NCBI Gene Summary',NULL,13717,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(39330,'NCBI Gene PubMed Count',NULL,13717,NULL,NULL,NULL,26,NULL,NULL,NULL),(39331,'NCBI Gene Summary',NULL,13718,NULL,'This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39332,'NCBI Gene PubMed Count',NULL,13718,NULL,NULL,NULL,112,NULL,NULL,NULL),(39333,'NCBI Gene Summary',NULL,13719,NULL,'The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(39334,'NCBI Gene PubMed Count',NULL,13719,NULL,NULL,NULL,10,NULL,NULL,NULL),(39335,'NCBI Gene Summary',NULL,13720,NULL,'This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(39336,'NCBI Gene PubMed Count',NULL,13720,NULL,NULL,NULL,47,NULL,NULL,NULL),(39337,'NCBI Gene Summary',NULL,13721,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(39338,'NCBI Gene PubMed Count',NULL,13721,NULL,NULL,NULL,110,NULL,NULL,NULL),(39339,'NCBI Gene Summary',NULL,13722,NULL,'This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3\' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39340,'NCBI Gene PubMed Count',NULL,13722,NULL,NULL,NULL,21,NULL,NULL,NULL),(39341,'NCBI Gene Summary',NULL,13723,NULL,'The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure\' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]',NULL,NULL,NULL,NULL,NULL),(39342,'NCBI Gene PubMed Count',NULL,13723,NULL,NULL,NULL,124,NULL,NULL,NULL),(39343,'NCBI Gene Summary',NULL,13724,NULL,'The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(39344,'NCBI Gene PubMed Count',NULL,13724,NULL,NULL,NULL,33,NULL,NULL,NULL),(39345,'NCBI Gene Summary',NULL,13725,NULL,'This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39346,'NCBI Gene PubMed Count',NULL,13725,NULL,NULL,NULL,22,NULL,NULL,NULL),(39347,'NCBI Gene Summary',NULL,13726,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(39348,'NCBI Gene PubMed Count',NULL,13726,NULL,NULL,NULL,16,NULL,NULL,NULL),(39349,'NCBI Gene Summary',NULL,13727,NULL,'This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(39350,'NCBI Gene PubMed Count',NULL,13727,NULL,NULL,NULL,24,NULL,NULL,NULL),(39351,'NCBI Gene Summary',NULL,13728,NULL,'This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(39352,'NCBI Gene PubMed Count',NULL,13728,NULL,NULL,NULL,162,NULL,NULL,NULL),(39353,'NCBI Gene Summary',NULL,13729,NULL,'This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3\' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(39354,'NCBI Gene PubMed Count',NULL,13729,NULL,NULL,NULL,23,NULL,NULL,NULL),(39355,'NCBI Gene Summary',NULL,13730,NULL,'Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(39356,'NCBI Gene PubMed Count',NULL,13730,NULL,NULL,NULL,202,NULL,NULL,NULL),(39357,'NCBI Gene Summary',NULL,13731,NULL,'Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(39358,'NCBI Gene PubMed Count',NULL,13731,NULL,NULL,NULL,13,NULL,NULL,NULL),(39359,'NCBI Gene Summary',NULL,13732,NULL,'The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39360,'NCBI Gene PubMed Count',NULL,13732,NULL,NULL,NULL,598,NULL,NULL,NULL),(39361,'NCBI Gene Summary',NULL,13733,NULL,'This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(39362,'NCBI Gene PubMed Count',NULL,13733,NULL,NULL,NULL,50,NULL,NULL,NULL),(39363,'NCBI Gene Summary',NULL,13734,NULL,'DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39364,'NCBI Gene PubMed Count',NULL,13734,NULL,NULL,NULL,29,NULL,NULL,NULL),(39365,'NCBI Gene Summary',NULL,13735,NULL,'This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(39366,'NCBI Gene PubMed Count',NULL,13735,NULL,NULL,NULL,279,NULL,NULL,NULL),(39367,'NCBI Gene Summary',NULL,13736,NULL,'This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39368,'NCBI Gene PubMed Count',NULL,13736,NULL,NULL,NULL,27,NULL,NULL,NULL),(39369,'NCBI Gene PubMed Count',NULL,13737,NULL,NULL,NULL,12,NULL,NULL,NULL),(39370,'NCBI Gene Summary',NULL,13738,NULL,'The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(39371,'NCBI Gene PubMed Count',NULL,13738,NULL,NULL,NULL,25,NULL,NULL,NULL),(39372,'NCBI Gene Summary',NULL,13739,NULL,'This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(39373,'NCBI Gene PubMed Count',NULL,13739,NULL,NULL,NULL,98,NULL,NULL,NULL),(39374,'NCBI Gene PubMed Count',NULL,13740,NULL,NULL,NULL,11,NULL,NULL,NULL),(39375,'NCBI Gene Summary',NULL,13741,NULL,'COMMD1 is a regulator of copper homeostasis, sodium uptake, and NF-kappa-B (see MIM 164011) signaling (de Bie et al., 2005 [PubMed 16267171]).[supplied by OMIM, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(39376,'NCBI Gene PubMed Count',NULL,13741,NULL,NULL,NULL,66,NULL,NULL,NULL),(39377,'NCBI Gene PubMed Count',NULL,13742,NULL,NULL,NULL,14,NULL,NULL,NULL),(39378,'NCBI Gene PubMed Count',NULL,13743,NULL,NULL,NULL,18,NULL,NULL,NULL),(39379,'NCBI Gene Summary',NULL,13744,NULL,'The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. Accumulation of antizyme inhibitor 2 has also been observed in brains of patients with Alzheimer\'s disease. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(39380,'NCBI Gene PubMed Count',NULL,13744,NULL,NULL,NULL,21,NULL,NULL,NULL),(39381,'NCBI Gene Summary',NULL,13745,NULL,'This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(39382,'NCBI Gene PubMed Count',NULL,13745,NULL,NULL,NULL,49,NULL,NULL,NULL),(39383,'NCBI Gene Summary',NULL,13746,NULL,'This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39384,'NCBI Gene PubMed Count',NULL,13746,NULL,NULL,NULL,20,NULL,NULL,NULL),(39385,'NCBI Gene Summary',NULL,13747,NULL,'The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta\', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39386,'NCBI Gene PubMed Count',NULL,13747,NULL,NULL,NULL,28,NULL,NULL,NULL),(39387,'NCBI Gene PubMed Count',NULL,13748,NULL,NULL,NULL,23,NULL,NULL,NULL),(39388,'NCBI Gene Summary',NULL,13749,NULL,'This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(39389,'NCBI Gene PubMed Count',NULL,13749,NULL,NULL,NULL,33,NULL,NULL,NULL),(39390,'NCBI Gene PubMed Count',NULL,13750,NULL,NULL,NULL,13,NULL,NULL,NULL),(39391,'NCBI Gene Summary',NULL,13751,NULL,'The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(39392,'NCBI Gene PubMed Count',NULL,13751,NULL,NULL,NULL,12,NULL,NULL,NULL),(39393,'NCBI Gene Summary',NULL,13752,NULL,'The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(39394,'NCBI Gene PubMed Count',NULL,13752,NULL,NULL,NULL,26,NULL,NULL,NULL),(39395,'NCBI Gene Summary',NULL,13753,NULL,'The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(39396,'NCBI Gene PubMed Count',NULL,13753,NULL,NULL,NULL,607,NULL,NULL,NULL),(39397,'NCBI Gene Summary',NULL,13754,NULL,'This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(39398,'NCBI Gene PubMed Count',NULL,13754,NULL,NULL,NULL,15,NULL,NULL,NULL),(39399,'NCBI Gene Summary',NULL,13755,NULL,'This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(39400,'NCBI Gene PubMed Count',NULL,13755,NULL,NULL,NULL,16,NULL,NULL,NULL),(39401,'NCBI Gene Summary',NULL,13756,NULL,'The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(39402,'NCBI Gene PubMed Count',NULL,13756,NULL,NULL,NULL,413,NULL,NULL,NULL),(39403,'NCBI Gene Summary',NULL,13757,NULL,'This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(39404,'NCBI Gene PubMed Count',NULL,13757,NULL,NULL,NULL,59,NULL,NULL,NULL),(39405,'NCBI Gene Summary',NULL,13758,NULL,'The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(39406,'NCBI Gene PubMed Count',NULL,13758,NULL,NULL,NULL,23,NULL,NULL,NULL),(39407,'NCBI Gene PubMed Count',NULL,13759,NULL,NULL,NULL,10,NULL,NULL,NULL),(39408,'NCBI Gene PubMed Count',NULL,13760,NULL,NULL,NULL,9,NULL,NULL,NULL),(39409,'NCBI Gene Summary',NULL,13761,NULL,'This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39410,'NCBI Gene PubMed Count',NULL,13761,NULL,NULL,NULL,82,NULL,NULL,NULL),(39411,'NCBI Gene Summary',NULL,13762,NULL,'This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(39412,'NCBI Gene PubMed Count',NULL,13762,NULL,NULL,NULL,18,NULL,NULL,NULL),(39413,'NCBI Gene Summary',NULL,13763,NULL,'This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(39414,'NCBI Gene PubMed Count',NULL,13763,NULL,NULL,NULL,351,NULL,NULL,NULL),(39415,'NCBI Gene Summary',NULL,13764,NULL,'This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(39416,'NCBI Gene PubMed Count',NULL,13764,NULL,NULL,NULL,57,NULL,NULL,NULL),(39417,'NCBI Gene Summary',NULL,13765,NULL,'This gene encodes a neuropeptide that is structurally similar to somatostatin. It binds to all known somatostatin receptors, and shares many pharmacological and functional properties with somatostatin, including the depression of neuronal activity. However, it also has many properties distinct from somatostatin, such as induction of slow-wave sleep, apparently by antagonism of the excitatory effects of acetylcholine on the cortex, reduction of locomotor activity, and activation of cation selective currents not responsive to somatostatin. The preproprotein undergoes further processing into multiple mature products. Read-through transcripts exist between this gene and the upstream APITD1 (apoptosis-inducing, TAF9-like domain 1) gene, as represented in GeneID:100526739. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(39418,'NCBI Gene PubMed Count',NULL,13765,NULL,NULL,NULL,25,NULL,NULL,NULL),(39419,'NCBI Gene Summary',NULL,13766,NULL,'COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(39420,'NCBI Gene PubMed Count',NULL,13766,NULL,NULL,NULL,12,NULL,NULL,NULL),(39421,'NCBI Gene Summary',NULL,13767,NULL,'The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5\'-AGGTCA-3\' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(39422,'NCBI Gene PubMed Count',NULL,13767,NULL,NULL,NULL,43,NULL,NULL,NULL),(39423,'NCBI Gene Summary',NULL,13768,NULL,'This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(39424,'NCBI Gene PubMed Count',NULL,13768,NULL,NULL,NULL,57,NULL,NULL,NULL),(39425,'NCBI Gene Summary',NULL,13769,NULL,'The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(39426,'NCBI Gene PubMed Count',NULL,13769,NULL,NULL,NULL,23,NULL,NULL,NULL),(39427,'NCBI Gene Summary',NULL,13770,NULL,'The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39428,'NCBI Gene PubMed Count',NULL,13770,NULL,NULL,NULL,278,NULL,NULL,NULL),(39429,'NCBI Gene Summary',NULL,13771,NULL,'The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39430,'NCBI Gene PubMed Count',NULL,13771,NULL,NULL,NULL,55,NULL,NULL,NULL),(39431,'NCBI Gene Summary',NULL,13772,NULL,'The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(39432,'NCBI Gene PubMed Count',NULL,13772,NULL,NULL,NULL,22,NULL,NULL,NULL),(39433,'NCBI Gene Summary',NULL,13773,NULL,'This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(39434,'NCBI Gene PubMed Count',NULL,13773,NULL,NULL,NULL,11,NULL,NULL,NULL),(39435,'NCBI Gene Summary',NULL,13774,NULL,'This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(39436,'NCBI Gene PubMed Count',NULL,13774,NULL,NULL,NULL,26,NULL,NULL,NULL),(39437,'NCBI Gene Summary',NULL,13775,NULL,'Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(39438,'NCBI Gene PubMed Count',NULL,13775,NULL,NULL,NULL,15,NULL,NULL,NULL),(39439,'NCBI Gene Summary',NULL,13776,NULL,'This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39440,'NCBI Gene PubMed Count',NULL,13776,NULL,NULL,NULL,8,NULL,NULL,NULL),(39441,'NCBI Gene Summary',NULL,13777,NULL,'This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39442,'NCBI Gene PubMed Count',NULL,13777,NULL,NULL,NULL,10,NULL,NULL,NULL),(39443,'NCBI Gene Summary',NULL,13778,NULL,'Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3\' region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39444,'NCBI Gene PubMed Count',NULL,13778,NULL,NULL,NULL,18,NULL,NULL,NULL),(39445,'NCBI Gene PubMed Count',NULL,13779,NULL,NULL,NULL,7,NULL,NULL,NULL),(39446,'NCBI Gene PubMed Count',NULL,13780,NULL,NULL,NULL,14,NULL,NULL,NULL),(39447,'NCBI Gene PubMed Count',NULL,13781,NULL,NULL,NULL,5,NULL,NULL,NULL),(39448,'NCBI Gene Summary',NULL,13782,NULL,'Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39449,'NCBI Gene PubMed Count',NULL,13782,NULL,NULL,NULL,32,NULL,NULL,NULL),(39450,'NCBI Gene Summary',NULL,13783,NULL,'This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(39451,'NCBI Gene PubMed Count',NULL,13783,NULL,NULL,NULL,16,NULL,NULL,NULL),(39452,'NCBI Gene Summary',NULL,13784,NULL,'This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39453,'NCBI Gene PubMed Count',NULL,13784,NULL,NULL,NULL,10,NULL,NULL,NULL),(39454,'NCBI Gene Summary',NULL,13785,NULL,'COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39455,'NCBI Gene PubMed Count',NULL,13785,NULL,NULL,NULL,11,NULL,NULL,NULL),(39456,'NCBI Gene Summary',NULL,13786,NULL,'This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39457,'NCBI Gene PubMed Count',NULL,13786,NULL,NULL,NULL,15,NULL,NULL,NULL),(39458,'NCBI Gene Summary',NULL,13787,NULL,'This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alternate promoters have been observed for this gene. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(39459,'NCBI Gene PubMed Count',NULL,13787,NULL,NULL,NULL,27,NULL,NULL,NULL),(39460,'NCBI Gene Summary',NULL,13788,NULL,'The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(39461,'NCBI Gene PubMed Count',NULL,13788,NULL,NULL,NULL,10,NULL,NULL,NULL),(39462,'NCBI Gene Summary',NULL,13789,NULL,'This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39463,'NCBI Gene PubMed Count',NULL,13789,NULL,NULL,NULL,14,NULL,NULL,NULL),(39464,'NCBI Gene Summary',NULL,13790,NULL,'B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(39465,'NCBI Gene PubMed Count',NULL,13790,NULL,NULL,NULL,12,NULL,NULL,NULL),(39466,'NCBI Gene PubMed Count',NULL,13791,NULL,NULL,NULL,8,NULL,NULL,NULL),(39467,'NCBI Gene Summary',NULL,13792,NULL,'This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5\' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39468,'NCBI Gene PubMed Count',NULL,13792,NULL,NULL,NULL,70,NULL,NULL,NULL),(39469,'NCBI Gene Summary',NULL,13793,NULL,'This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39470,'NCBI Gene PubMed Count',NULL,13793,NULL,NULL,NULL,40,NULL,NULL,NULL),(39471,'NCBI Gene PubMed Count',NULL,13794,NULL,NULL,NULL,1,NULL,NULL,NULL),(39472,'NCBI Gene PubMed Count',NULL,13795,NULL,NULL,NULL,30,NULL,NULL,NULL),(39473,'NCBI Gene Summary',NULL,13796,NULL,'This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(39474,'NCBI Gene PubMed Count',NULL,13796,NULL,NULL,NULL,38,NULL,NULL,NULL),(39475,'NCBI Gene Summary',NULL,13797,NULL,'This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39476,'NCBI Gene PubMed Count',NULL,13797,NULL,NULL,NULL,36,NULL,NULL,NULL),(39477,'NCBI Gene PubMed Count',NULL,13798,NULL,NULL,NULL,15,NULL,NULL,NULL),(39478,'NCBI Gene Summary',NULL,13799,NULL,' Arginase catalyzes the hydrolysis of arginine to ornithine and urea.  At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function.  The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney.  The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism.  Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39479,'NCBI Gene PubMed Count',NULL,13799,NULL,NULL,NULL,71,NULL,NULL,NULL),(39480,'NCBI Gene Summary',NULL,13800,NULL,'This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(39481,'NCBI Gene PubMed Count',NULL,13800,NULL,NULL,NULL,19,NULL,NULL,NULL),(39482,'NCBI Gene Summary',NULL,13801,NULL,'Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(39483,'NCBI Gene PubMed Count',NULL,13801,NULL,NULL,NULL,23,NULL,NULL,NULL),(39484,'NCBI Gene Summary',NULL,13802,NULL,'The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39485,'NCBI Gene PubMed Count',NULL,13802,NULL,NULL,NULL,51,NULL,NULL,NULL),(39486,'NCBI Gene Summary',NULL,13803,NULL,'This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a segregating pseudogene, where some individuals have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(39487,'NCBI Gene PubMed Count',NULL,13803,NULL,NULL,NULL,8,NULL,NULL,NULL),(39488,'NCBI Gene Summary',NULL,13804,NULL,'This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(39489,'NCBI Gene PubMed Count',NULL,13804,NULL,NULL,NULL,34,NULL,NULL,NULL),(39490,'NCBI Gene Summary',NULL,13805,NULL,'This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39491,'NCBI Gene PubMed Count',NULL,13805,NULL,NULL,NULL,39,NULL,NULL,NULL),(39492,'NCBI Gene Summary',NULL,13806,NULL,'This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(39493,'NCBI Gene PubMed Count',NULL,13806,NULL,NULL,NULL,71,NULL,NULL,NULL),(39494,'NCBI Gene Summary',NULL,13807,NULL,'Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39495,'NCBI Gene PubMed Count',NULL,13807,NULL,NULL,NULL,9,NULL,NULL,NULL),(39496,'NCBI Gene Summary',NULL,13808,NULL,'This gene encodes a member of the P5 subfamily of P-type transport ATPases. P-type ATPases form a large superfamily of cation and lipid pumps that transport inorganic cations and other substrates across cell membranes. P5 ATPases are localized to membranes of the endoplasmic reticulum (ER) and serve many important functions including transport of cargo proteins to the Golgi, glycosylation and cell wall biosynthesis, control of protein insertion orientation, 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR) degradation, and sensitivity to unfolded protein response (UPR) activators. The encoded protein is organized into three cytoplasmic domains (A, P, and N) and two membrane-embedded domains (T and S). The N-domain binds ATP and serves as a built-in protein kinase, which phosphorylates the P-domain. The A-domain is an intrinsic protein phosphatase, which dephosphorylates the P-domain once during each catalytic cycle. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(39497,'NCBI Gene PubMed Count',NULL,13808,NULL,NULL,NULL,8,NULL,NULL,NULL),(39498,'NCBI Gene PubMed Count',NULL,13809,NULL,NULL,NULL,7,NULL,NULL,NULL),(39499,'NCBI Gene Summary',NULL,13810,NULL,'P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]',NULL,NULL,NULL,NULL,NULL),(39500,'NCBI Gene PubMed Count',NULL,13810,NULL,NULL,NULL,15,NULL,NULL,NULL),(39501,'NCBI Gene PubMed Count',NULL,13811,NULL,NULL,NULL,19,NULL,NULL,NULL),(39502,'NCBI Gene Summary',NULL,13812,NULL,'This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic factor (CNTF) for binding to the ciliary neurotrophic factor receptor (CNTFR) complex, and activates the Jak-STAT signaling cascade. CLCF1 can be actively secreted from cells by forming a complex with soluble type I CRLF1 or soluble CNTFR. CLCF1 is a potent neurotrophic factor, B-cell stimulatory agent and neuroendocrine modulator of pituitary corticotroph function. Defects in CLCF1 cause cold-induced sweating syndrome 2 (CISS2). This syndrome is characterized by a profuse sweating after exposure to cold as well as congenital physical abnormalities of the head and spine. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(39503,'NCBI Gene PubMed Count',NULL,13812,NULL,NULL,NULL,20,NULL,NULL,NULL),(39504,'NCBI Gene Summary',NULL,13813,NULL,'The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(39505,'NCBI Gene PubMed Count',NULL,13813,NULL,NULL,NULL,144,NULL,NULL,NULL),(39506,'NCBI Gene Summary',NULL,13814,NULL,'This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(39507,'NCBI Gene PubMed Count',NULL,13814,NULL,NULL,NULL,89,NULL,NULL,NULL),(39508,'NCBI Gene Summary',NULL,13815,NULL,'This gene encodes a type II transmembrane, C-type lectin-like protein that is highly expressed on dendritic and B cells. This protein may act as a T-cell costimulatory molecule that enhances interleukin-4 production, and maybe involved in the regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(39509,'NCBI Gene PubMed Count',NULL,13815,NULL,NULL,NULL,8,NULL,NULL,NULL),(39510,'NCBI Gene Summary',NULL,13816,NULL,'ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(39511,'NCBI Gene PubMed Count',NULL,13816,NULL,NULL,NULL,15,NULL,NULL,NULL),(39512,'NCBI Gene Summary',NULL,13817,NULL,'The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(39513,'NCBI Gene PubMed Count',NULL,13817,NULL,NULL,NULL,118,NULL,NULL,NULL),(39514,'NCBI Gene Summary',NULL,13818,NULL,'This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(39515,'NCBI Gene PubMed Count',NULL,13818,NULL,NULL,NULL,11,NULL,NULL,NULL),(39516,'NCBI Gene Summary',NULL,13819,NULL,'The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(39517,'NCBI Gene PubMed Count',NULL,13819,NULL,NULL,NULL,25,NULL,NULL,NULL),(39518,'NCBI Gene Summary',NULL,13820,NULL,'The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39519,'NCBI Gene PubMed Count',NULL,13820,NULL,NULL,NULL,21,NULL,NULL,NULL),(39520,'NCBI Gene Summary',NULL,13821,NULL,'This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(39521,'NCBI Gene PubMed Count',NULL,13821,NULL,NULL,NULL,88,NULL,NULL,NULL),(39522,'NCBI Gene Summary',NULL,13822,NULL,'This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39523,'NCBI Gene PubMed Count',NULL,13822,NULL,NULL,NULL,40,NULL,NULL,NULL),(39524,'NCBI Gene Summary',NULL,13823,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The expression level of this gene is associated with recurrence of primary hepatocellular carcinoma. Six alternatively spliced transcript variants encoding different isoforms have been reported, but the transcript sequences of some variants are not determined.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(39525,'NCBI Gene PubMed Count',NULL,13823,NULL,NULL,NULL,30,NULL,NULL,NULL),(39526,'NCBI Gene PubMed Count',NULL,13824,NULL,NULL,NULL,12,NULL,NULL,NULL),(39527,'NCBI Gene Summary',NULL,13825,NULL,'A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39528,'NCBI Gene PubMed Count',NULL,13825,NULL,NULL,NULL,43,NULL,NULL,NULL),(39529,'NCBI Gene Summary',NULL,13826,NULL,'The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39530,'NCBI Gene PubMed Count',NULL,13826,NULL,NULL,NULL,32,NULL,NULL,NULL),(39531,'NCBI Gene Summary',NULL,13827,NULL,'This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(39532,'NCBI Gene PubMed Count',NULL,13827,NULL,NULL,NULL,13,NULL,NULL,NULL),(39533,'NCBI Gene Summary',NULL,13828,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is upregulated in patients with ulcerative colitis and highly overexpressed in infiltrating ductal adenocarcinomas. PKC/MAPK/AP-1 (protein kinase C/mitogen-activated protein kinase/activator protein-1) dependent pathway regulates the expression of this gene in gastric cells. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(39534,'NCBI Gene PubMed Count',NULL,13828,NULL,NULL,NULL,39,NULL,NULL,NULL),(39535,'NCBI Gene PubMed Count',NULL,13829,NULL,NULL,NULL,4,NULL,NULL,NULL),(39536,'NCBI Gene PubMed Count',NULL,13830,NULL,NULL,NULL,11,NULL,NULL,NULL),(39537,'NCBI Gene Summary',NULL,13831,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is expressed in germinal center B-cells, placenta and stomach as well as in colon tumor. This gene is down-regulated in intestinal type gastric cancer. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(39538,'NCBI Gene PubMed Count',NULL,13831,NULL,NULL,NULL,16,NULL,NULL,NULL),(39539,'NCBI Gene PubMed Count',NULL,13832,NULL,NULL,NULL,1,NULL,NULL,NULL),(39540,'NCBI Gene Summary',NULL,13833,NULL,'This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(39541,'NCBI Gene PubMed Count',NULL,13833,NULL,NULL,NULL,73,NULL,NULL,NULL),(39542,'NCBI Gene Summary',NULL,13834,NULL,'This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39543,'NCBI Gene PubMed Count',NULL,13834,NULL,NULL,NULL,30,NULL,NULL,NULL),(39544,'NCBI Gene PubMed Count',NULL,13835,NULL,NULL,NULL,12,NULL,NULL,NULL),(39545,'NCBI Gene Summary',NULL,13836,NULL,'This gene encodes a member of the G-protein coupled receptor 1 family. The encoded protein is a receptor for cysteinyl leukotrienes, and is involved in mediating bronchoconstriction via activation of a phosphatidylinositol-calcium second messenger system. Activation of the encoded receptor results in contraction and proliferation of bronchial smooth muscle cells, eosinophil migration, and damage to the mucus layer in the lung. Upregulation of this gene is associated with asthma and dysregulation may also be implicated in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(39546,'NCBI Gene PubMed Count',NULL,13836,NULL,NULL,NULL,89,NULL,NULL,NULL),(39547,'NCBI Gene Summary',NULL,13837,NULL,'The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(39548,'NCBI Gene PubMed Count',NULL,13837,NULL,NULL,NULL,472,NULL,NULL,NULL),(39549,'NCBI Gene PubMed Count',NULL,13838,NULL,NULL,NULL,4,NULL,NULL,NULL),(39550,'NCBI Gene PubMed Count',NULL,13839,NULL,NULL,NULL,1,NULL,NULL,NULL),(39551,'NCBI Gene PubMed Count',NULL,13840,NULL,NULL,NULL,1,NULL,NULL,NULL),(39552,'NCBI Gene Summary',NULL,13841,NULL,'Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39553,'NCBI Gene PubMed Count',NULL,13841,NULL,NULL,NULL,12,NULL,NULL,NULL),(39554,'NCBI Gene Summary',NULL,13842,NULL,'This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39555,'NCBI Gene PubMed Count',NULL,13842,NULL,NULL,NULL,19,NULL,NULL,NULL),(39556,'NCBI Gene Summary',NULL,13843,NULL,'This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(39557,'NCBI Gene PubMed Count',NULL,13843,NULL,NULL,NULL,18,NULL,NULL,NULL),(39558,'NCBI Gene Summary',NULL,13844,NULL,'This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39559,'NCBI Gene PubMed Count',NULL,13844,NULL,NULL,NULL,42,NULL,NULL,NULL),(39560,'NCBI Gene Summary',NULL,13845,NULL,'This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39561,'NCBI Gene PubMed Count',NULL,13845,NULL,NULL,NULL,36,NULL,NULL,NULL),(39562,'NCBI Gene PubMed Count',NULL,13846,NULL,NULL,NULL,68,NULL,NULL,NULL),(39563,'NCBI Gene Summary',NULL,13847,NULL,'This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(39564,'NCBI Gene PubMed Count',NULL,13847,NULL,NULL,NULL,37,NULL,NULL,NULL),(39565,'NCBI Gene Summary',NULL,13848,NULL,'This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(39566,'NCBI Gene PubMed Count',NULL,13848,NULL,NULL,NULL,19,NULL,NULL,NULL),(39567,'NCBI Gene Summary',NULL,13849,NULL,'The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(39568,'NCBI Gene PubMed Count',NULL,13849,NULL,NULL,NULL,195,NULL,NULL,NULL),(39569,'NCBI Gene Summary',NULL,13850,NULL,'The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(39570,'NCBI Gene PubMed Count',NULL,13850,NULL,NULL,NULL,24,NULL,NULL,NULL),(39571,'NCBI Gene Summary',NULL,13851,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39572,'NCBI Gene PubMed Count',NULL,13851,NULL,NULL,NULL,28,NULL,NULL,NULL),(39573,'NCBI Gene Summary',NULL,13852,NULL,'This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible cognitive disability. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39574,'NCBI Gene PubMed Count',NULL,13852,NULL,NULL,NULL,26,NULL,NULL,NULL),(39575,'NCBI Gene Summary',NULL,13853,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39576,'NCBI Gene PubMed Count',NULL,13853,NULL,NULL,NULL,93,NULL,NULL,NULL),(39577,'NCBI Gene Summary',NULL,13854,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(39578,'NCBI Gene PubMed Count',NULL,13854,NULL,NULL,NULL,23,NULL,NULL,NULL),(39579,'NCBI Gene Summary',NULL,13855,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(39580,'NCBI Gene PubMed Count',NULL,13855,NULL,NULL,NULL,30,NULL,NULL,NULL),(39581,'NCBI Gene Summary',NULL,13856,NULL,'The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39582,'NCBI Gene PubMed Count',NULL,13856,NULL,NULL,NULL,68,NULL,NULL,NULL),(39583,'NCBI Gene Summary',NULL,13857,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(39584,'NCBI Gene PubMed Count',NULL,13857,NULL,NULL,NULL,96,NULL,NULL,NULL),(39585,'NCBI Gene PubMed Count',NULL,13858,NULL,NULL,NULL,9,NULL,NULL,NULL),(39586,'NCBI Gene Summary',NULL,13859,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(39587,'NCBI Gene PubMed Count',NULL,13859,NULL,NULL,NULL,17,NULL,NULL,NULL),(39588,'NCBI Gene Summary',NULL,13860,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(39589,'NCBI Gene PubMed Count',NULL,13860,NULL,NULL,NULL,72,NULL,NULL,NULL),(39590,'NCBI Gene Summary',NULL,13861,NULL,'The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39591,'NCBI Gene PubMed Count',NULL,13861,NULL,NULL,NULL,9,NULL,NULL,NULL),(39592,'NCBI Gene PubMed Count',NULL,13862,NULL,NULL,NULL,8,NULL,NULL,NULL),(39593,'NCBI Gene PubMed Count',NULL,13863,NULL,NULL,NULL,4,NULL,NULL,NULL),(39594,'NCBI Gene Summary',NULL,13864,NULL,'Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39595,'NCBI Gene PubMed Count',NULL,13864,NULL,NULL,NULL,59,NULL,NULL,NULL),(39596,'NCBI Gene PubMed Count',NULL,13865,NULL,NULL,NULL,8,NULL,NULL,NULL),(39597,'NCBI Gene Summary',NULL,13866,NULL,'Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39598,'NCBI Gene PubMed Count',NULL,13866,NULL,NULL,NULL,17,NULL,NULL,NULL),(39599,'NCBI Gene Summary',NULL,13867,NULL,'CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39600,'NCBI Gene PubMed Count',NULL,13867,NULL,NULL,NULL,30,NULL,NULL,NULL),(39601,'NCBI Gene PubMed Count',NULL,13868,NULL,NULL,NULL,1,NULL,NULL,NULL),(39602,'NCBI Gene Summary',NULL,13869,NULL,'CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39603,'NCBI Gene PubMed Count',NULL,13869,NULL,NULL,NULL,37,NULL,NULL,NULL),(39604,'NCBI Gene Summary',NULL,13870,NULL,'This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(39605,'NCBI Gene PubMed Count',NULL,13870,NULL,NULL,NULL,32,NULL,NULL,NULL),(39606,'NCBI Gene Summary',NULL,13871,NULL,'This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39607,'NCBI Gene PubMed Count',NULL,13871,NULL,NULL,NULL,67,NULL,NULL,NULL),(39608,'NCBI Gene Summary',NULL,13872,NULL,'This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell\'s DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(39609,'NCBI Gene PubMed Count',NULL,13872,NULL,NULL,NULL,174,NULL,NULL,NULL),(39610,'NCBI Gene Summary',NULL,13873,NULL,'The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(39611,'NCBI Gene PubMed Count',NULL,13873,NULL,NULL,NULL,27,NULL,NULL,NULL),(39612,'NCBI Gene Summary',NULL,13874,NULL,' Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules.  The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39613,'NCBI Gene PubMed Count',NULL,13874,NULL,NULL,NULL,149,NULL,NULL,NULL),(39614,'NCBI Gene PubMed Count',NULL,13875,NULL,NULL,NULL,8,NULL,NULL,NULL),(39615,'NCBI Gene Summary',NULL,13876,NULL,'Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 1  is a member of the p64 family; the protein localizes principally to the cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39616,'NCBI Gene PubMed Count',NULL,13876,NULL,NULL,NULL,93,NULL,NULL,NULL),(39617,'NCBI Gene Summary',NULL,13877,NULL,'This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein plays a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(39618,'NCBI Gene PubMed Count',NULL,13877,NULL,NULL,NULL,26,NULL,NULL,NULL),(39619,'NCBI Gene PubMed Count',NULL,13878,NULL,NULL,NULL,13,NULL,NULL,NULL),(39620,'NCBI Gene Summary',NULL,13879,NULL,'This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(39621,'NCBI Gene PubMed Count',NULL,13879,NULL,NULL,NULL,75,NULL,NULL,NULL),(39622,'NCBI Gene Summary',NULL,13880,NULL,'This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39623,'NCBI Gene PubMed Count',NULL,13880,NULL,NULL,NULL,93,NULL,NULL,NULL),(39624,'NCBI Gene Summary',NULL,13881,NULL,'This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(39625,'NCBI Gene PubMed Count',NULL,13881,NULL,NULL,NULL,27,NULL,NULL,NULL),(39626,'NCBI Gene PubMed Count',NULL,13882,NULL,NULL,NULL,1,NULL,NULL,NULL),(39627,'NCBI Gene Summary',NULL,13883,NULL,'The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39628,'NCBI Gene PubMed Count',NULL,13883,NULL,NULL,NULL,23,NULL,NULL,NULL),(39629,'NCBI Gene PubMed Count',NULL,13884,NULL,NULL,NULL,14,NULL,NULL,NULL),(39630,'NCBI Gene Summary',NULL,13885,NULL,'Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5\' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39631,'NCBI Gene PubMed Count',NULL,13885,NULL,NULL,NULL,20,NULL,NULL,NULL),(39632,'NCBI Gene PubMed Count',NULL,13886,NULL,NULL,NULL,6,NULL,NULL,NULL),(39633,'NCBI Gene Summary',NULL,13887,NULL,'CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester prodrugs in which the medoxomil moiety is linked to an oxygen atom (Ishizuka et al., 2010 [PubMed 20177059]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(39634,'NCBI Gene PubMed Count',NULL,13887,NULL,NULL,NULL,9,NULL,NULL,NULL),(39635,'NCBI Gene Summary',NULL,13888,NULL,'This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(39636,'NCBI Gene PubMed Count',NULL,13888,NULL,NULL,NULL,40,NULL,NULL,NULL),(39637,'NCBI Gene Summary',NULL,13889,NULL,'This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(39638,'NCBI Gene PubMed Count',NULL,13889,NULL,NULL,NULL,73,NULL,NULL,NULL),(39639,'NCBI Gene Summary',NULL,13890,NULL,'The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Two other peptides, catestatin and chromofungin, have antimicrobial activity and antifungal activity, respectively. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(39640,'NCBI Gene PubMed Count',NULL,13890,NULL,NULL,NULL,236,NULL,NULL,NULL),(39641,'NCBI Gene Summary',NULL,13891,NULL,'This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(39642,'NCBI Gene PubMed Count',NULL,13891,NULL,NULL,NULL,31,NULL,NULL,NULL),(39643,'NCBI Gene Summary',NULL,13892,NULL,'This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(39644,'NCBI Gene PubMed Count',NULL,13892,NULL,NULL,NULL,15,NULL,NULL,NULL),(39645,'NCBI Gene PubMed Count',NULL,13893,NULL,NULL,NULL,8,NULL,NULL,NULL),(39646,'NCBI Gene Summary',NULL,13894,NULL,'This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(39647,'NCBI Gene PubMed Count',NULL,13894,NULL,NULL,NULL,20,NULL,NULL,NULL),(39648,'NCBI Gene Summary',NULL,13895,NULL,'This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39649,'NCBI Gene PubMed Count',NULL,13895,NULL,NULL,NULL,77,NULL,NULL,NULL),(39650,'NCBI Gene PubMed Count',NULL,13896,NULL,NULL,NULL,29,NULL,NULL,NULL),(39651,'NCBI Gene PubMed Count',NULL,13897,NULL,NULL,NULL,4,NULL,NULL,NULL),(39652,'NCBI Gene Summary',NULL,13898,NULL,'ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(39653,'NCBI Gene PubMed Count',NULL,13898,NULL,NULL,NULL,14,NULL,NULL,NULL),(39654,'NCBI Gene Summary',NULL,13899,NULL,'Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39655,'NCBI Gene PubMed Count',NULL,13899,NULL,NULL,NULL,47,NULL,NULL,NULL),(39656,'NCBI Gene PubMed Count',NULL,13900,NULL,NULL,NULL,23,NULL,NULL,NULL),(39657,'NCBI Gene Summary',NULL,13901,NULL,'The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(39658,'NCBI Gene PubMed Count',NULL,13901,NULL,NULL,NULL,13,NULL,NULL,NULL),(39659,'NCBI Gene PubMed Count',NULL,13902,NULL,NULL,NULL,7,NULL,NULL,NULL),(39660,'NCBI Gene Summary',NULL,13903,NULL,'This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(39661,'NCBI Gene PubMed Count',NULL,13903,NULL,NULL,NULL,220,NULL,NULL,NULL),(39662,'NCBI Gene Summary',NULL,13904,NULL,'The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39663,'NCBI Gene PubMed Count',NULL,13904,NULL,NULL,NULL,23,NULL,NULL,NULL),(39664,'NCBI Gene Summary',NULL,13905,NULL,'The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39665,'NCBI Gene PubMed Count',NULL,13905,NULL,NULL,NULL,24,NULL,NULL,NULL),(39666,'NCBI Gene PubMed Count',NULL,13906,NULL,NULL,NULL,10,NULL,NULL,NULL),(39667,'NCBI Gene Summary',NULL,13907,NULL,'This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(39668,'NCBI Gene PubMed Count',NULL,13907,NULL,NULL,NULL,21,NULL,NULL,NULL),(39669,'NCBI Gene PubMed Count',NULL,13908,NULL,NULL,NULL,1,NULL,NULL,NULL),(39670,'NCBI Gene PubMed Count',NULL,13909,NULL,NULL,NULL,11,NULL,NULL,NULL),(39671,'NCBI Gene PubMed Count',NULL,13910,NULL,NULL,NULL,12,NULL,NULL,NULL),(39672,'NCBI Gene Summary',NULL,13911,NULL,'This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(39673,'NCBI Gene PubMed Count',NULL,13911,NULL,NULL,NULL,6,NULL,NULL,NULL),(39674,'NCBI Gene Summary',NULL,13912,NULL,'This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Alternative splicing results in multiple variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(39675,'NCBI Gene PubMed Count',NULL,13912,NULL,NULL,NULL,116,NULL,NULL,NULL),(39676,'NCBI Gene Summary',NULL,13913,NULL,'This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5\' exon spliced to two different sets of 3\' exons that encode two different proteins. This gene represents the downstream 8 kDa protein that localizes to mitochondria.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(39677,'NCBI Gene PubMed Count',NULL,13913,NULL,NULL,NULL,14,NULL,NULL,NULL),(39678,'NCBI Gene PubMed Count',NULL,13914,NULL,NULL,NULL,55,NULL,NULL,NULL),(39679,'NCBI Gene Summary',NULL,13915,NULL,'This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(39680,'NCBI Gene PubMed Count',NULL,13915,NULL,NULL,NULL,6,NULL,NULL,NULL),(39681,'NCBI Gene Summary',NULL,13916,NULL,'This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39682,'NCBI Gene PubMed Count',NULL,13916,NULL,NULL,NULL,59,NULL,NULL,NULL),(39683,'NCBI Gene Summary',NULL,13917,NULL,'This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39684,'NCBI Gene PubMed Count',NULL,13917,NULL,NULL,NULL,18,NULL,NULL,NULL),(39685,'NCBI Gene Summary',NULL,13918,NULL,'This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(39686,'NCBI Gene PubMed Count',NULL,13918,NULL,NULL,NULL,11,NULL,NULL,NULL),(39687,'NCBI Gene Summary',NULL,13919,NULL,'EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39688,'NCBI Gene PubMed Count',NULL,13919,NULL,NULL,NULL,6,NULL,NULL,NULL),(39689,'NCBI Gene Summary',NULL,13920,NULL,'The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(39690,'NCBI Gene PubMed Count',NULL,13920,NULL,NULL,NULL,25,NULL,NULL,NULL),(39691,'NCBI Gene Summary',NULL,13921,NULL,'This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39692,'NCBI Gene PubMed Count',NULL,13921,NULL,NULL,NULL,23,NULL,NULL,NULL),(39693,'NCBI Gene Summary',NULL,13922,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which may play a role in versican processing during skeletal muscle development. This gene may function as a tumor suppressor in colorectal and breast cancers. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(39694,'NCBI Gene PubMed Count',NULL,13922,NULL,NULL,NULL,14,NULL,NULL,NULL),(39695,'NCBI Gene Summary',NULL,13923,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(39696,'NCBI Gene PubMed Count',NULL,13923,NULL,NULL,NULL,19,NULL,NULL,NULL),(39697,'NCBI Gene Summary',NULL,13924,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39698,'NCBI Gene PubMed Count',NULL,13924,NULL,NULL,NULL,8,NULL,NULL,NULL),(39699,'NCBI Gene Summary',NULL,13925,NULL,'This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(39700,'NCBI Gene PubMed Count',NULL,13925,NULL,NULL,NULL,197,NULL,NULL,NULL),(39701,'NCBI Gene PubMed Count',NULL,13926,NULL,NULL,NULL,11,NULL,NULL,NULL),(39702,'NCBI Gene Summary',NULL,13927,NULL,'This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(39703,'NCBI Gene PubMed Count',NULL,13927,NULL,NULL,NULL,7,NULL,NULL,NULL),(39704,'NCBI Gene Summary',NULL,13928,NULL,'The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(39705,'NCBI Gene PubMed Count',NULL,13928,NULL,NULL,NULL,21,NULL,NULL,NULL),(39706,'NCBI Gene Summary',NULL,13929,NULL,'The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the \'pure\' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(39707,'NCBI Gene PubMed Count',NULL,13929,NULL,NULL,NULL,79,NULL,NULL,NULL),(39708,'NCBI Gene Summary',NULL,13930,NULL,'This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(39709,'NCBI Gene PubMed Count',NULL,13930,NULL,NULL,NULL,25,NULL,NULL,NULL),(39710,'NCBI Gene Summary',NULL,13931,NULL,'This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(39711,'NCBI Gene PubMed Count',NULL,13931,NULL,NULL,NULL,90,NULL,NULL,NULL),(39712,'NCBI Gene Summary',NULL,13932,NULL,'This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39713,'NCBI Gene PubMed Count',NULL,13932,NULL,NULL,NULL,22,NULL,NULL,NULL),(39714,'NCBI Gene Summary',NULL,13933,NULL,'This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(39715,'NCBI Gene PubMed Count',NULL,13933,NULL,NULL,NULL,13,NULL,NULL,NULL),(39716,'NCBI Gene Summary',NULL,13934,NULL,'The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39717,'NCBI Gene PubMed Count',NULL,13934,NULL,NULL,NULL,41,NULL,NULL,NULL),(39718,'NCBI Gene Summary',NULL,13935,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(39719,'NCBI Gene PubMed Count',NULL,13935,NULL,NULL,NULL,51,NULL,NULL,NULL),(39720,'NCBI Gene Summary',NULL,13936,NULL,'Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39721,'NCBI Gene PubMed Count',NULL,13936,NULL,NULL,NULL,24,NULL,NULL,NULL),(39722,'NCBI Gene Summary',NULL,13937,NULL,'This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(39723,'NCBI Gene PubMed Count',NULL,13937,NULL,NULL,NULL,35,NULL,NULL,NULL),(39724,'NCBI Gene Summary',NULL,13938,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(39725,'NCBI Gene PubMed Count',NULL,13938,NULL,NULL,NULL,36,NULL,NULL,NULL),(39726,'NCBI Gene Summary',NULL,13939,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 5 WD repeats, and has a structural similarity with actin-binding proteins: the D. discoideum coronin and the human p57 protein, suggesting that this protein may also be an actin-binding protein that regulates cell motility. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39727,'NCBI Gene PubMed Count',NULL,13939,NULL,NULL,NULL,14,NULL,NULL,NULL),(39728,'NCBI Gene PubMed Count',NULL,13940,NULL,NULL,NULL,10,NULL,NULL,NULL),(39729,'NCBI Gene Summary',NULL,13941,NULL,'This gene encodes a member of the coronin protein family. However, unlike other coronin proteins, it is not an actin-binding protein but rather functions as an F-actin regulator directing anterograde Golgi to endosome transport. The encoded protein has two tandem WD-40 domain repeats and localizes to the trans-Golgi network. The protein undergoes K33-linked polyubiquitination via an E3 ligase complex. It is thought to play an essential role in maintenance of Golgi apparatus morphology. Alternative splicing results in multiple transcripts variants; some of which form read-through transcripts with a neighboring gene. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(39730,'NCBI Gene PubMed Count',NULL,13941,NULL,NULL,NULL,14,NULL,NULL,NULL),(39731,'NCBI Gene Summary',NULL,13942,NULL,'This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(39732,'NCBI Gene PubMed Count',NULL,13942,NULL,NULL,NULL,86,NULL,NULL,NULL),(39733,'NCBI Gene Summary',NULL,13943,NULL,'The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(39734,'NCBI Gene PubMed Count',NULL,13943,NULL,NULL,NULL,5,NULL,NULL,NULL),(39735,'NCBI Gene PubMed Count',NULL,13944,NULL,NULL,NULL,6,NULL,NULL,NULL),(39736,'NCBI Gene Summary',NULL,13945,NULL,'This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39737,'NCBI Gene PubMed Count',NULL,13945,NULL,NULL,NULL,31,NULL,NULL,NULL),(39738,'NCBI Gene Summary',NULL,13946,NULL,'The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39739,'NCBI Gene PubMed Count',NULL,13946,NULL,NULL,NULL,17,NULL,NULL,NULL),(39740,'NCBI Gene Summary',NULL,13947,NULL,'This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(39741,'NCBI Gene PubMed Count',NULL,13947,NULL,NULL,NULL,22,NULL,NULL,NULL),(39742,'NCBI Gene Summary',NULL,13948,NULL,'Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39743,'NCBI Gene PubMed Count',NULL,13948,NULL,NULL,NULL,22,NULL,NULL,NULL),(39744,'NCBI Gene Summary',NULL,13949,NULL,'The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(39745,'NCBI Gene PubMed Count',NULL,13949,NULL,NULL,NULL,23,NULL,NULL,NULL),(39746,'NCBI Gene Summary',NULL,13950,NULL,'This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39747,'NCBI Gene PubMed Count',NULL,13950,NULL,NULL,NULL,20,NULL,NULL,NULL),(39748,'NCBI Gene Summary',NULL,13951,NULL,'This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(39749,'NCBI Gene PubMed Count',NULL,13951,NULL,NULL,NULL,11,NULL,NULL,NULL),(39750,'NCBI Gene Summary',NULL,13952,NULL,'The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(39751,'NCBI Gene PubMed Count',NULL,13952,NULL,NULL,NULL,9,NULL,NULL,NULL),(39752,'NCBI Gene PubMed Count',NULL,13953,NULL,NULL,NULL,10,NULL,NULL,NULL),(39753,'NCBI Gene PubMed Count',NULL,13954,NULL,NULL,NULL,6,NULL,NULL,NULL),(39754,'NCBI Gene Summary',NULL,13955,NULL,'This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39755,'NCBI Gene PubMed Count',NULL,13955,NULL,NULL,NULL,9,NULL,NULL,NULL),(39756,'NCBI Gene Summary',NULL,13956,NULL,'This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(39757,'NCBI Gene PubMed Count',NULL,13956,NULL,NULL,NULL,12,NULL,NULL,NULL),(39758,'NCBI Gene Summary',NULL,13957,NULL,'This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39759,'NCBI Gene PubMed Count',NULL,13957,NULL,NULL,NULL,9,NULL,NULL,NULL),(39760,'NCBI Gene Summary',NULL,13958,NULL,'The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39761,'NCBI Gene PubMed Count',NULL,13958,NULL,NULL,NULL,23,NULL,NULL,NULL),(39762,'NCBI Gene PubMed Count',NULL,13959,NULL,NULL,NULL,1,NULL,NULL,NULL),(39763,'NCBI Gene PubMed Count',NULL,13960,NULL,NULL,NULL,9,NULL,NULL,NULL),(39764,'NCBI Gene Summary',NULL,13961,NULL,'The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(39765,'NCBI Gene PubMed Count',NULL,13961,NULL,NULL,NULL,74,NULL,NULL,NULL),(39766,'NCBI Gene Summary',NULL,13962,NULL,'The protein encoded by this gene binds proliferating cell nuclear antigen (PCNA) and may be involved in DNA synthesis and cell proliferation. In addition, the encoded protein may be a tumor suppressor. Several protein-coding and non-protein coding transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(39767,'NCBI Gene PubMed Count',NULL,13962,NULL,NULL,NULL,22,NULL,NULL,NULL),(39768,'NCBI Gene Summary',NULL,13963,NULL,'This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(39769,'NCBI Gene PubMed Count',NULL,13963,NULL,NULL,NULL,16,NULL,NULL,NULL),(39770,'NCBI Gene Summary',NULL,13964,NULL,'This gene encodes a transcription factor that belongs to the cap\'n\'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(39771,'NCBI Gene PubMed Count',NULL,13964,NULL,NULL,NULL,79,NULL,NULL,NULL),(39772,'NCBI Gene PubMed Count',NULL,13965,NULL,NULL,NULL,73,NULL,NULL,NULL),(39773,'NCBI Gene PubMed Count',NULL,13966,NULL,NULL,NULL,41,NULL,NULL,NULL),(39774,'NCBI Gene Summary',NULL,13967,NULL,'This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(39775,'NCBI Gene PubMed Count',NULL,13967,NULL,NULL,NULL,32,NULL,NULL,NULL),(39776,'NCBI Gene PubMed Count',NULL,13968,NULL,NULL,NULL,6,NULL,NULL,NULL),(39777,'NCBI Gene Summary',NULL,13969,NULL,'This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(39778,'NCBI Gene PubMed Count',NULL,13969,NULL,NULL,NULL,57,NULL,NULL,NULL),(39779,'NCBI Gene Summary',NULL,13970,NULL,'This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(39780,'NCBI Gene PubMed Count',NULL,13970,NULL,NULL,NULL,20,NULL,NULL,NULL),(39781,'NCBI Gene PubMed Count',NULL,13971,NULL,NULL,NULL,15,NULL,NULL,NULL),(39782,'NCBI Gene Summary',NULL,13972,NULL,'This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(39783,'NCBI Gene PubMed Count',NULL,13972,NULL,NULL,NULL,144,NULL,NULL,NULL),(39784,'NCBI Gene PubMed Count',NULL,13973,NULL,NULL,NULL,3,NULL,NULL,NULL),(39785,'NCBI Gene PubMed Count',NULL,13974,NULL,NULL,NULL,20,NULL,NULL,NULL),(39786,'NCBI Gene Summary',NULL,13975,NULL,'This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39787,'NCBI Gene PubMed Count',NULL,13975,NULL,NULL,NULL,15,NULL,NULL,NULL),(39788,'NCBI Gene PubMed Count',NULL,13976,NULL,NULL,NULL,17,NULL,NULL,NULL),(39789,'NCBI Gene Summary',NULL,13977,NULL,'This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(39790,'NCBI Gene PubMed Count',NULL,13977,NULL,NULL,NULL,67,NULL,NULL,NULL),(39791,'NCBI Gene Summary',NULL,13978,NULL,'The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39792,'NCBI Gene PubMed Count',NULL,13978,NULL,NULL,NULL,27,NULL,NULL,NULL),(39793,'NCBI Gene Summary',NULL,13979,NULL,'This gene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The gene product interacts with the angiotensin II type I receptor and negatively regulates angiotensin II signaling. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39794,'NCBI Gene PubMed Count',NULL,13979,NULL,NULL,NULL,27,NULL,NULL,NULL),(39795,'NCBI Gene Summary',NULL,13980,NULL,'The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39796,'NCBI Gene PubMed Count',NULL,13980,NULL,NULL,NULL,15,NULL,NULL,NULL),(39797,'NCBI Gene Summary',NULL,13981,NULL,'This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(39798,'NCBI Gene PubMed Count',NULL,13981,NULL,NULL,NULL,54,NULL,NULL,NULL),(39799,'NCBI Gene Summary',NULL,13982,NULL,'This gene encodes both membrane-bound and secreted protein isoforms. A membrane-bound isoform exhibits sequence similarity with the mouse mahogany protein, a receptor involved in controlling obesity. A secreted isoform is involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(39800,'NCBI Gene PubMed Count',NULL,13982,NULL,NULL,NULL,28,NULL,NULL,NULL),(39801,'NCBI Gene Summary',NULL,13983,NULL,'This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39802,'NCBI Gene PubMed Count',NULL,13983,NULL,NULL,NULL,28,NULL,NULL,NULL),(39803,'NCBI Gene PubMed Count',NULL,13984,NULL,NULL,NULL,42,NULL,NULL,NULL),(39804,'NCBI Gene Summary',NULL,13985,NULL,'This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(39805,'NCBI Gene PubMed Count',NULL,13985,NULL,NULL,NULL,19,NULL,NULL,NULL),(39806,'NCBI Gene PubMed Count',NULL,13986,NULL,NULL,NULL,7,NULL,NULL,NULL),(39807,'NCBI Gene Summary',NULL,13987,NULL,'This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(39808,'NCBI Gene PubMed Count',NULL,13987,NULL,NULL,NULL,16,NULL,NULL,NULL),(39809,'NCBI Gene Summary',NULL,13988,NULL,'This gene encodes a transmembrane protein that localizes to granular structures, including crystalloid eosinophilic granules and other granular organelles. This gene, along with an overlapping opposite strand gene, has been implicated as a susceptibility locus for colorectal cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(39810,'NCBI Gene PubMed Count',NULL,13988,NULL,NULL,NULL,14,NULL,NULL,NULL),(39811,'NCBI Gene PubMed Count',NULL,13989,NULL,NULL,NULL,15,NULL,NULL,NULL),(39812,'NCBI Gene Summary',NULL,13990,NULL,'This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(39813,'NCBI Gene PubMed Count',NULL,13990,NULL,NULL,NULL,329,NULL,NULL,NULL),(39814,'NCBI Gene Summary',NULL,13991,NULL,'This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39815,'NCBI Gene PubMed Count',NULL,13991,NULL,NULL,NULL,50,NULL,NULL,NULL),(39816,'NCBI Gene PubMed Count',NULL,13992,NULL,NULL,NULL,24,NULL,NULL,NULL),(39817,'NCBI Gene PubMed Count',NULL,13993,NULL,NULL,NULL,3,NULL,NULL,NULL),(39818,'NCBI Gene Summary',NULL,13994,NULL,'This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(39819,'NCBI Gene PubMed Count',NULL,13994,NULL,NULL,NULL,13,NULL,NULL,NULL),(39820,'NCBI Gene Summary',NULL,13995,NULL,'The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the sebaceous gland of the skin. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(39821,'NCBI Gene PubMed Count',NULL,13995,NULL,NULL,NULL,4,NULL,NULL,NULL),(39822,'NCBI Gene Summary',NULL,13996,NULL,'This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(39823,'NCBI Gene PubMed Count',NULL,13996,NULL,NULL,NULL,7,NULL,NULL,NULL),(39824,'NCBI Gene PubMed Count',NULL,13997,NULL,NULL,NULL,6,NULL,NULL,NULL),(39825,'NCBI Gene Summary',NULL,13998,NULL,'This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(39826,'NCBI Gene PubMed Count',NULL,13998,NULL,NULL,NULL,15,NULL,NULL,NULL),(39827,'NCBI Gene PubMed Count',NULL,13999,NULL,NULL,NULL,7,NULL,NULL,NULL),(39828,'NCBI Gene PubMed Count',NULL,14000,NULL,NULL,NULL,13,NULL,NULL,NULL),(39829,'NCBI Gene PubMed Count',NULL,14001,NULL,NULL,NULL,8,NULL,NULL,NULL),(39830,'NCBI Gene PubMed Count',NULL,14002,NULL,NULL,NULL,12,NULL,NULL,NULL),(39831,'NCBI Gene PubMed Count',NULL,14003,NULL,NULL,NULL,15,NULL,NULL,NULL),(39832,'NCBI Gene Summary',NULL,14004,NULL,'COMMD6 belongs to a family of NF-kappa-B (see RELA; MIM 164014)-inhibiting proteins characterized by the presence of a COMM domain (see COMMD1; MIM 607238) (de Bie et al., 2006 [PubMed 16573520]).[supplied by OMIM, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(39833,'NCBI Gene PubMed Count',NULL,14004,NULL,NULL,NULL,13,NULL,NULL,NULL),(39834,'NCBI Gene PubMed Count',NULL,14005,NULL,NULL,NULL,18,NULL,NULL,NULL),(39835,'NCBI Gene Summary',NULL,14006,NULL,'The protein encoded by this gene binds coiled-coil domain-containing protein 22 (CCDC22), and this complex can regulate the turnover of I-kappa-B and the activation of NF-kappa-B. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(39836,'NCBI Gene PubMed Count',NULL,14006,NULL,NULL,NULL,11,NULL,NULL,NULL),(39837,'NCBI Gene Summary',NULL,14007,NULL,'This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(39838,'NCBI Gene PubMed Count',NULL,14007,NULL,NULL,NULL,188,NULL,NULL,NULL),(39839,'NCBI Gene Summary',NULL,14008,NULL,'The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39840,'NCBI Gene PubMed Count',NULL,14008,NULL,NULL,NULL,112,NULL,NULL,NULL),(39841,'NCBI Gene Summary',NULL,14009,NULL,'The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(39842,'NCBI Gene PubMed Count',NULL,14009,NULL,NULL,NULL,36,NULL,NULL,NULL),(39843,'NCBI Gene Summary',NULL,14010,NULL,'AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39844,'NCBI Gene PubMed Count',NULL,14010,NULL,NULL,NULL,17,NULL,NULL,NULL),(39845,'NCBI Gene Summary',NULL,14011,NULL,'The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(39846,'NCBI Gene PubMed Count',NULL,14011,NULL,NULL,NULL,29,NULL,NULL,NULL),(39847,'NCBI Gene PubMed Count',NULL,14012,NULL,NULL,NULL,29,NULL,NULL,NULL),(39848,'NCBI Gene PubMed Count',NULL,14013,NULL,NULL,NULL,7,NULL,NULL,NULL),(39849,'NCBI Gene Summary',NULL,14014,NULL,'The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(39850,'NCBI Gene PubMed Count',NULL,14014,NULL,NULL,NULL,70,NULL,NULL,NULL),(39851,'NCBI Gene PubMed Count',NULL,14015,NULL,NULL,NULL,15,NULL,NULL,NULL),(39852,'NCBI Gene Summary',NULL,14016,NULL,'This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(39853,'NCBI Gene PubMed Count',NULL,14016,NULL,NULL,NULL,26,NULL,NULL,NULL),(39854,'NCBI Gene Summary',NULL,14017,NULL,'This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(39855,'NCBI Gene PubMed Count',NULL,14017,NULL,NULL,NULL,10,NULL,NULL,NULL),(39856,'NCBI Gene Summary',NULL,14018,NULL,'Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39857,'NCBI Gene PubMed Count',NULL,14018,NULL,NULL,NULL,10,NULL,NULL,NULL),(39858,'NCBI Gene Summary',NULL,14019,NULL,'GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(39859,'NCBI Gene PubMed Count',NULL,14019,NULL,NULL,NULL,23,NULL,NULL,NULL),(39860,'NCBI Gene Summary',NULL,14020,NULL,'B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39861,'NCBI Gene PubMed Count',NULL,14020,NULL,NULL,NULL,15,NULL,NULL,NULL),(39862,'NCBI Gene Summary',NULL,14021,NULL,'This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(39863,'NCBI Gene PubMed Count',NULL,14021,NULL,NULL,NULL,22,NULL,NULL,NULL),(39864,'NCBI Gene Summary',NULL,14022,NULL,'This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(39865,'NCBI Gene PubMed Count',NULL,14022,NULL,NULL,NULL,15,NULL,NULL,NULL),(39866,'NCBI Gene Summary',NULL,14023,NULL,'This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(39867,'NCBI Gene PubMed Count',NULL,14023,NULL,NULL,NULL,17,NULL,NULL,NULL),(39868,'NCBI Gene Summary',NULL,14024,NULL,'This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39869,'NCBI Gene PubMed Count',NULL,14024,NULL,NULL,NULL,11,NULL,NULL,NULL),(39870,'NCBI Gene Summary',NULL,14025,NULL,'This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(39871,'NCBI Gene PubMed Count',NULL,14025,NULL,NULL,NULL,18,NULL,NULL,NULL),(39872,'NCBI Gene Summary',NULL,14026,NULL,'This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39873,'NCBI Gene PubMed Count',NULL,14026,NULL,NULL,NULL,20,NULL,NULL,NULL),(39874,'NCBI Gene Summary',NULL,14027,NULL,'BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39875,'NCBI Gene PubMed Count',NULL,14027,NULL,NULL,NULL,188,NULL,NULL,NULL),(39876,'NCBI Gene Summary',NULL,14029,NULL,'This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39877,'NCBI Gene PubMed Count',NULL,14029,NULL,NULL,NULL,98,NULL,NULL,NULL),(39878,'NCBI Gene Summary',NULL,14030,NULL,'This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(39879,'NCBI Gene PubMed Count',NULL,14030,NULL,NULL,NULL,16,NULL,NULL,NULL),(39880,'NCBI Gene Summary',NULL,14031,NULL,'Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(39881,'NCBI Gene PubMed Count',NULL,14031,NULL,NULL,NULL,38,NULL,NULL,NULL),(39882,'NCBI Gene Summary',NULL,14032,NULL,'This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(39883,'NCBI Gene PubMed Count',NULL,14032,NULL,NULL,NULL,14,NULL,NULL,NULL),(39884,'NCBI Gene Summary',NULL,14033,NULL,'The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(39885,'NCBI Gene PubMed Count',NULL,14033,NULL,NULL,NULL,21,NULL,NULL,NULL),(39886,'NCBI Gene Summary',NULL,14034,NULL,'This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(39887,'NCBI Gene PubMed Count',NULL,14034,NULL,NULL,NULL,33,NULL,NULL,NULL),(39888,'NCBI Gene Summary',NULL,14035,NULL,'This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(39889,'NCBI Gene PubMed Count',NULL,14035,NULL,NULL,NULL,68,NULL,NULL,NULL),(39890,'NCBI Gene PubMed Count',NULL,14036,NULL,NULL,NULL,4,NULL,NULL,NULL),(39891,'NCBI Gene Summary',NULL,14037,NULL,'This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(39892,'NCBI Gene PubMed Count',NULL,14037,NULL,NULL,NULL,9,NULL,NULL,NULL),(39893,'NCBI Gene PubMed Count',NULL,14039,NULL,NULL,NULL,35,NULL,NULL,NULL),(39894,'NCBI Gene PubMed Count',NULL,14040,NULL,NULL,NULL,15,NULL,NULL,NULL),(39895,'NCBI Gene Summary',NULL,14041,NULL,'This gene encodes a member of the cyclin-dependent protein kinase family. The protein promotes entry into S phase, in part by activating members of the E2F family of transcription factors. The protein also associates with cyclin C and phosphorylates the retinoblastoma 1 protein to promote exit from G0. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39896,'NCBI Gene PubMed Count',NULL,14041,NULL,NULL,NULL,36,NULL,NULL,NULL),(39897,'NCBI Gene Summary',NULL,14042,NULL,'This gene encodes a member of a small subfamily of homeobox containing transcription factors. The encoded protein may regulate homeobox gene expression during anteroposterior patterning and hematopoiesis. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(39898,'NCBI Gene PubMed Count',NULL,14042,NULL,NULL,NULL,21,NULL,NULL,NULL),(39899,'NCBI Gene Summary',NULL,14043,NULL,'This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(39900,'NCBI Gene PubMed Count',NULL,14043,NULL,NULL,NULL,15,NULL,NULL,NULL),(39901,'NCBI Gene Summary',NULL,14044,NULL,'The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(39902,'NCBI Gene PubMed Count',NULL,14044,NULL,NULL,NULL,262,NULL,NULL,NULL),(39903,'NCBI Gene Summary',NULL,14045,NULL,'Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(39904,'NCBI Gene PubMed Count',NULL,14045,NULL,NULL,NULL,21,NULL,NULL,NULL),(39905,'NCBI Gene PubMed Count',NULL,14046,NULL,NULL,NULL,17,NULL,NULL,NULL),(39906,'NCBI Gene PubMed Count',NULL,14047,NULL,NULL,NULL,2,NULL,NULL,NULL),(39907,'NCBI Gene Summary',NULL,14048,NULL,'CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39908,'NCBI Gene PubMed Count',NULL,14048,NULL,NULL,NULL,32,NULL,NULL,NULL),(39909,'NCBI Gene Summary',NULL,14049,NULL,'Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(39910,'NCBI Gene PubMed Count',NULL,14049,NULL,NULL,NULL,34,NULL,NULL,NULL),(39911,'NCBI Gene Summary',NULL,14050,NULL,'This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(39912,'NCBI Gene PubMed Count',NULL,14050,NULL,NULL,NULL,20,NULL,NULL,NULL),(39913,'NCBI Gene Summary',NULL,14051,NULL,'This gene encodes a member of the the CELF/BRUNOL protein family, which contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing and translation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(39914,'NCBI Gene PubMed Count',NULL,14051,NULL,NULL,NULL,6,NULL,NULL,NULL),(39915,'NCBI Gene Summary',NULL,14052,NULL,'This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(39916,'NCBI Gene PubMed Count',NULL,14052,NULL,NULL,NULL,18,NULL,NULL,NULL),(39917,'NCBI Gene PubMed Count',NULL,14053,NULL,NULL,NULL,2,NULL,NULL,NULL),(39918,'NCBI Gene PubMed Count',NULL,14054,NULL,NULL,NULL,10,NULL,NULL,NULL),(39919,'NCBI Gene PubMed Count',NULL,14055,NULL,NULL,NULL,5,NULL,NULL,NULL),(39920,'NCBI Gene PubMed Count',NULL,14056,NULL,NULL,NULL,63,NULL,NULL,NULL),(39921,'NCBI Gene PubMed Count',NULL,14057,NULL,NULL,NULL,3,NULL,NULL,NULL),(39922,'NCBI Gene PubMed Count',NULL,14058,NULL,NULL,NULL,5,NULL,NULL,NULL),(39923,'NCBI Gene PubMed Count',NULL,14059,NULL,NULL,NULL,2,NULL,NULL,NULL),(39924,'NCBI Gene PubMed Count',NULL,14060,NULL,NULL,NULL,3,NULL,NULL,NULL),(39925,'NCBI Gene PubMed Count',NULL,14061,NULL,NULL,NULL,1,NULL,NULL,NULL),(39926,'NCBI Gene Summary',NULL,14062,NULL,'This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(39927,'NCBI Gene PubMed Count',NULL,14062,NULL,NULL,NULL,16,NULL,NULL,NULL),(39928,'NCBI Gene PubMed Count',NULL,14063,NULL,NULL,NULL,5,NULL,NULL,NULL),(39929,'NCBI Gene Summary',NULL,14064,NULL,'This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(39930,'NCBI Gene PubMed Count',NULL,14064,NULL,NULL,NULL,9,NULL,NULL,NULL),(39931,'NCBI Gene PubMed Count',NULL,14065,NULL,NULL,NULL,9,NULL,NULL,NULL),(39932,'NCBI Gene Summary',NULL,14066,NULL,'This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(39933,'NCBI Gene PubMed Count',NULL,14066,NULL,NULL,NULL,8,NULL,NULL,NULL),(39934,'NCBI Gene Summary',NULL,14067,NULL,'The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(39935,'NCBI Gene PubMed Count',NULL,14067,NULL,NULL,NULL,23,NULL,NULL,NULL),(39936,'NCBI Gene Summary',NULL,14068,NULL,'The protein encoded by this gene represents the alpha subunit of a cyclic nucleotide-gated olfactory channel. The encoded protein contains a carboxy-terminal leucine zipper that mediates channel formation. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(39937,'NCBI Gene PubMed Count',NULL,14068,NULL,NULL,NULL,13,NULL,NULL,NULL),(39938,'NCBI Gene Summary',NULL,14069,NULL,'This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(39939,'NCBI Gene PubMed Count',NULL,14069,NULL,NULL,NULL,20,NULL,NULL,NULL),(39940,'NCBI Gene Summary',NULL,14070,NULL,'This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(39941,'NCBI Gene PubMed Count',NULL,14070,NULL,NULL,NULL,36,NULL,NULL,NULL),(39942,'NCBI Gene Summary',NULL,14071,NULL,'This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(39943,'NCBI Gene PubMed Count',NULL,14071,NULL,NULL,NULL,27,NULL,NULL,NULL),(39944,'NCBI Gene Summary',NULL,14072,NULL,'This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39945,'NCBI Gene PubMed Count',NULL,14072,NULL,NULL,NULL,23,NULL,NULL,NULL),(39946,'NCBI Gene Summary',NULL,14073,NULL,'The protein encoded by this gene is an auxiliary subunit of the ionotropic glutamate receptor of the AMPA subtype. AMPA receptors mediate fast synaptic neurotransmission in the central nervous system. This protein has been reported to interact with the Type I AMPA receptor regulatory protein isoform gamma-8 to control assembly of hippocampal AMPA receptor complexes, thereby modulating receptor gating and pharmacology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(39947,'NCBI Gene PubMed Count',NULL,14073,NULL,NULL,NULL,13,NULL,NULL,NULL),(39948,'NCBI Gene PubMed Count',NULL,14074,NULL,NULL,NULL,9,NULL,NULL,NULL),(39949,'NCBI Gene Summary',NULL,14075,NULL,'This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(39950,'NCBI Gene PubMed Count',NULL,14075,NULL,NULL,NULL,10,NULL,NULL,NULL),(39951,'NCBI Gene Summary',NULL,14076,NULL,'This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrough transcription occurs between this locus and the downstream GNMT (glycine N-methyltransferase) gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(39952,'NCBI Gene PubMed Count',NULL,14076,NULL,NULL,NULL,15,NULL,NULL,NULL),(39953,'NCBI Gene PubMed Count',NULL,14077,NULL,NULL,NULL,7,NULL,NULL,NULL),(39954,'NCBI Gene Summary',NULL,14078,NULL,'This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(39955,'NCBI Gene PubMed Count',NULL,14078,NULL,NULL,NULL,12,NULL,NULL,NULL),(39956,'NCBI Gene Summary',NULL,14079,NULL,'This gene encodes the catalytic component of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3\'-5\' RNase activity and prefers polyadenylated substrates. The CCR4-NOT complex plays a role in many cellular processes, including miRNA-mediated repression, mRNA degradation, and transcriptional regulation. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(39957,'NCBI Gene PubMed Count',NULL,14079,NULL,NULL,NULL,28,NULL,NULL,NULL),(39958,'NCBI Gene Summary',NULL,14080,NULL,'DPEP2 belongs to the membrane-bound dipeptidase (EC 3.4.13.19) family. These enzymes hydrolyze a variety of dipeptides, including leukotriene D4, the beta-lactam ring of some antibiotics, and cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (Habib et al., 2003 [PubMed 12738806]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(39959,'NCBI Gene PubMed Count',NULL,14080,NULL,NULL,NULL,10,NULL,NULL,NULL),(39960,'NCBI Gene PubMed Count',NULL,14081,NULL,NULL,NULL,3,NULL,NULL,NULL),(39961,'NCBI Gene Summary',NULL,14082,NULL,'The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for \'contactin-associated protein,\' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(39962,'NCBI Gene PubMed Count',NULL,14082,NULL,NULL,NULL,23,NULL,NULL,NULL),(39963,'NCBI Gene PubMed Count',NULL,14083,NULL,NULL,NULL,4,NULL,NULL,NULL),(39964,'NCBI Gene Summary',NULL,14084,NULL,'This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39965,'NCBI Gene PubMed Count',NULL,14084,NULL,NULL,NULL,11,NULL,NULL,NULL),(39966,'NCBI Gene Summary',NULL,14085,NULL,'This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(39967,'NCBI Gene PubMed Count',NULL,14085,NULL,NULL,NULL,20,NULL,NULL,NULL),(39968,'NCBI Gene PubMed Count',NULL,14086,NULL,NULL,NULL,7,NULL,NULL,NULL),(39969,'NCBI Gene PubMed Count',NULL,14087,NULL,NULL,NULL,8,NULL,NULL,NULL),(39970,'NCBI Gene PubMed Count',NULL,14088,NULL,NULL,NULL,3,NULL,NULL,NULL),(39971,'NCBI Gene PubMed Count',NULL,14089,NULL,NULL,NULL,7,NULL,NULL,NULL),(39972,'NCBI Gene PubMed Count',NULL,14090,NULL,NULL,NULL,7,NULL,NULL,NULL),(39973,'NCBI Gene Summary',NULL,14091,NULL,'This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]',NULL,NULL,NULL,NULL,NULL),(39974,'NCBI Gene PubMed Count',NULL,14091,NULL,NULL,NULL,688,NULL,NULL,NULL),(39975,'NCBI Gene Summary',NULL,14092,NULL,'This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3\' UTR. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39976,'NCBI Gene PubMed Count',NULL,14092,NULL,NULL,NULL,94,NULL,NULL,NULL),(39977,'NCBI Gene Summary',NULL,14093,NULL,'This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(39978,'NCBI Gene PubMed Count',NULL,14093,NULL,NULL,NULL,140,NULL,NULL,NULL),(39979,'NCBI Gene Summary',NULL,14094,NULL,'This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(39980,'NCBI Gene PubMed Count',NULL,14094,NULL,NULL,NULL,58,NULL,NULL,NULL),(39981,'NCBI Gene Summary',NULL,14095,NULL,'C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(39982,'NCBI Gene PubMed Count',NULL,14095,NULL,NULL,NULL,43,NULL,NULL,NULL),(39983,'NCBI Gene Summary',NULL,14096,NULL,'This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(39984,'NCBI Gene PubMed Count',NULL,14096,NULL,NULL,NULL,14,NULL,NULL,NULL),(39985,'NCBI Gene Summary',NULL,14097,NULL,'This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(39986,'NCBI Gene PubMed Count',NULL,14097,NULL,NULL,NULL,56,NULL,NULL,NULL),(39987,'NCBI Gene Summary',NULL,14098,NULL,'This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(39988,'NCBI Gene PubMed Count',NULL,14098,NULL,NULL,NULL,46,NULL,NULL,NULL),(39989,'NCBI Gene Summary',NULL,14099,NULL,'This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(39990,'NCBI Gene PubMed Count',NULL,14099,NULL,NULL,NULL,233,NULL,NULL,NULL),(39991,'NCBI Gene Summary',NULL,14100,NULL,'This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(39992,'NCBI Gene PubMed Count',NULL,14100,NULL,NULL,NULL,13,NULL,NULL,NULL),(39993,'NCBI Gene Summary',NULL,14101,NULL,'This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]',NULL,NULL,NULL,NULL,NULL),(39994,'NCBI Gene PubMed Count',NULL,14101,NULL,NULL,NULL,315,NULL,NULL,NULL),(39995,'NCBI Gene PubMed Count',NULL,14102,NULL,NULL,NULL,24,NULL,NULL,NULL),(39996,'NCBI Gene Summary',NULL,14103,NULL,'This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3\' to 5\' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(39997,'NCBI Gene PubMed Count',NULL,14103,NULL,NULL,NULL,99,NULL,NULL,NULL),(39998,'NCBI Gene Summary',NULL,14104,NULL,'This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3\' to 5\' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(39999,'NCBI Gene PubMed Count',NULL,14104,NULL,NULL,NULL,37,NULL,NULL,NULL),(40000,'NCBI Gene Summary',NULL,14105,NULL,'This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40001,'NCBI Gene PubMed Count',NULL,14105,NULL,NULL,NULL,52,NULL,NULL,NULL),(40002,'NCBI Gene Summary',NULL,14106,NULL,'This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(40003,'NCBI Gene PubMed Count',NULL,14106,NULL,NULL,NULL,54,NULL,NULL,NULL),(40004,'NCBI Gene Summary',NULL,14107,NULL,'This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(40005,'NCBI Gene PubMed Count',NULL,14107,NULL,NULL,NULL,41,NULL,NULL,NULL),(40006,'NCBI Gene PubMed Count',NULL,14108,NULL,NULL,NULL,15,NULL,NULL,NULL),(40007,'NCBI Gene Summary',NULL,14109,NULL,'This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40008,'NCBI Gene PubMed Count',NULL,14109,NULL,NULL,NULL,15,NULL,NULL,NULL),(40009,'NCBI Gene PubMed Count',NULL,14110,NULL,NULL,NULL,54,NULL,NULL,NULL),(40010,'NCBI Gene Summary',NULL,14111,NULL,'This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenitor cells. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(40011,'NCBI Gene PubMed Count',NULL,14111,NULL,NULL,NULL,31,NULL,NULL,NULL),(40012,'NCBI Gene Summary',NULL,14112,NULL,'The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(40013,'NCBI Gene PubMed Count',NULL,14112,NULL,NULL,NULL,214,NULL,NULL,NULL),(40014,'NCBI Gene Summary',NULL,14113,NULL,'This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40015,'NCBI Gene PubMed Count',NULL,14113,NULL,NULL,NULL,45,NULL,NULL,NULL),(40016,'NCBI Gene Summary',NULL,14114,NULL,'This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer\'s disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(40017,'NCBI Gene PubMed Count',NULL,14114,NULL,NULL,NULL,82,NULL,NULL,NULL),(40018,'NCBI Gene PubMed Count',NULL,14115,NULL,NULL,NULL,32,NULL,NULL,NULL),(40019,'NCBI Gene PubMed Count',NULL,14116,NULL,NULL,NULL,12,NULL,NULL,NULL),(40020,'NCBI Gene Summary',NULL,14117,NULL,'This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(40021,'NCBI Gene PubMed Count',NULL,14117,NULL,NULL,NULL,24,NULL,NULL,NULL),(40022,'NCBI Gene Summary',NULL,14118,NULL,'Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism.  Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript.  Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40023,'NCBI Gene PubMed Count',NULL,14118,NULL,NULL,NULL,18,NULL,NULL,NULL),(40024,'NCBI Gene Summary',NULL,14119,NULL,'HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40025,'NCBI Gene PubMed Count',NULL,14119,NULL,NULL,NULL,745,NULL,NULL,NULL),(40026,'NCBI Gene Summary',NULL,14120,NULL,'This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(40027,'NCBI Gene PubMed Count',NULL,14120,NULL,NULL,NULL,52,NULL,NULL,NULL),(40028,'NCBI Gene Summary',NULL,14121,NULL,'HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(40029,'NCBI Gene PubMed Count',NULL,14121,NULL,NULL,NULL,1415,NULL,NULL,NULL),(40030,'NCBI Gene Summary',NULL,14122,NULL,'HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(40031,'NCBI Gene PubMed Count',NULL,14122,NULL,NULL,NULL,29,NULL,NULL,NULL),(40032,'NCBI Gene PubMed Count',NULL,14123,NULL,NULL,NULL,4,NULL,NULL,NULL),(40033,'NCBI Gene PubMed Count',NULL,14124,NULL,NULL,NULL,7,NULL,NULL,NULL),(40034,'NCBI Gene Summary',NULL,14125,NULL,'This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(40035,'NCBI Gene PubMed Count',NULL,14125,NULL,NULL,NULL,14,NULL,NULL,NULL),(40036,'NCBI Gene Summary',NULL,14126,NULL,'This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(40037,'NCBI Gene PubMed Count',NULL,14126,NULL,NULL,NULL,10,NULL,NULL,NULL),(40038,'NCBI Gene Summary',NULL,14127,NULL,'This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40039,'NCBI Gene PubMed Count',NULL,14127,NULL,NULL,NULL,28,NULL,NULL,NULL),(40040,'NCBI Gene Summary',NULL,14128,NULL,'The protein encoded by this gene binds microtubule-associated protein 1 light chain 3 and is required for autophagy. Defects in this gene are a cause of retinal dystrophy. In addition, two microRNAs (microRNA 125b-1 and microRNA 144) can bind to the mRNA of this gene and produce the disease state. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(40041,'NCBI Gene PubMed Count',NULL,14128,NULL,NULL,NULL,18,NULL,NULL,NULL),(40042,'NCBI Gene PubMed Count',NULL,14129,NULL,NULL,NULL,13,NULL,NULL,NULL),(40043,'NCBI Gene Summary',NULL,14130,NULL,'HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40044,'NCBI Gene PubMed Count',NULL,14130,NULL,NULL,NULL,199,NULL,NULL,NULL),(40045,'NCBI Gene Summary',NULL,14131,NULL,'HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB3 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40046,'NCBI Gene PubMed Count',NULL,14131,NULL,NULL,NULL,157,NULL,NULL,NULL),(40047,'NCBI Gene Summary',NULL,14132,NULL,'HLA-DRB4 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB4 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40048,'NCBI Gene PubMed Count',NULL,14132,NULL,NULL,NULL,145,NULL,NULL,NULL),(40049,'NCBI Gene Summary',NULL,14133,NULL,'HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40050,'NCBI Gene PubMed Count',NULL,14133,NULL,NULL,NULL,158,NULL,NULL,NULL),(40051,'NCBI Gene PubMed Count',NULL,14134,NULL,NULL,NULL,8,NULL,NULL,NULL),(40052,'NCBI Gene Summary',NULL,14135,NULL,'The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(40053,'NCBI Gene PubMed Count',NULL,14135,NULL,NULL,NULL,8,NULL,NULL,NULL),(40054,'NCBI Gene Summary',NULL,14136,NULL,'This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(40055,'NCBI Gene PubMed Count',NULL,14136,NULL,NULL,NULL,11,NULL,NULL,NULL),(40056,'NCBI Gene Summary',NULL,14137,NULL,'This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(40057,'NCBI Gene PubMed Count',NULL,14137,NULL,NULL,NULL,10,NULL,NULL,NULL),(40058,'NCBI Gene PubMed Count',NULL,14138,NULL,NULL,NULL,15,NULL,NULL,NULL),(40059,'NCBI Gene Summary',NULL,14139,NULL,'This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(40060,'NCBI Gene PubMed Count',NULL,14139,NULL,NULL,NULL,17,NULL,NULL,NULL),(40061,'NCBI Gene Summary',NULL,14140,NULL,'The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(40062,'NCBI Gene PubMed Count',NULL,14140,NULL,NULL,NULL,138,NULL,NULL,NULL),(40063,'NCBI Gene Summary',NULL,14141,NULL,'Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(40064,'NCBI Gene PubMed Count',NULL,14141,NULL,NULL,NULL,1770,NULL,NULL,NULL),(40065,'NCBI Gene Summary',NULL,14142,NULL,'This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(40066,'NCBI Gene PubMed Count',NULL,14142,NULL,NULL,NULL,22,NULL,NULL,NULL),(40067,'NCBI Gene Summary',NULL,14143,NULL,'This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40068,'NCBI Gene PubMed Count',NULL,14143,NULL,NULL,NULL,368,NULL,NULL,NULL),(40069,'NCBI Gene Summary',NULL,14144,NULL,'In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40070,'NCBI Gene PubMed Count',NULL,14144,NULL,NULL,NULL,44,NULL,NULL,NULL),(40071,'NCBI Gene Summary',NULL,14145,NULL,'This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40072,'NCBI Gene PubMed Count',NULL,14145,NULL,NULL,NULL,115,NULL,NULL,NULL),(40073,'NCBI Gene Summary',NULL,14146,NULL,'This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family of proteins. The encoded preproprotein is proteolytically processed to generate the mature peptide hormone, which is secreted by pancreatic beta and alpha cells. This hormone is an endogenous ligand for corticotropin-releasing factor receptor 2 and may regulate insulin secretion in response to plasma glucose levels. Patients with type 2 diabetes exhibit reduced levels of the encoded protein in beta cells. In the brain, the encoded protein may be responsible for the effects of stress on appetite. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(40074,'NCBI Gene PubMed Count',NULL,14146,NULL,NULL,NULL,32,NULL,NULL,NULL),(40075,'NCBI Gene Summary',NULL,14147,NULL,'This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(40076,'NCBI Gene PubMed Count',NULL,14147,NULL,NULL,NULL,33,NULL,NULL,NULL),(40077,'NCBI Gene PubMed Count',NULL,14148,NULL,NULL,NULL,41,NULL,NULL,NULL),(40078,'NCBI Gene PubMed Count',NULL,14149,NULL,NULL,NULL,3,NULL,NULL,NULL),(40079,'NCBI Gene Summary',NULL,14150,NULL,'The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40080,'NCBI Gene PubMed Count',NULL,14150,NULL,NULL,NULL,42,NULL,NULL,NULL),(40081,'NCBI Gene Summary',NULL,14151,NULL,'This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these \'extrarenal receptors\' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40082,'NCBI Gene PubMed Count',NULL,14151,NULL,NULL,NULL,138,NULL,NULL,NULL),(40083,'NCBI Gene Summary',NULL,14152,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\'\', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40084,'NCBI Gene PubMed Count',NULL,14152,NULL,NULL,NULL,36,NULL,NULL,NULL),(40085,'NCBI Gene Summary',NULL,14153,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40086,'NCBI Gene PubMed Count',NULL,14153,NULL,NULL,NULL,22,NULL,NULL,NULL),(40087,'NCBI Gene Summary',NULL,14154,NULL,'This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(40088,'NCBI Gene PubMed Count',NULL,14154,NULL,NULL,NULL,56,NULL,NULL,NULL),(40089,'NCBI Gene Summary',NULL,14155,NULL,'The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40090,'NCBI Gene PubMed Count',NULL,14155,NULL,NULL,NULL,92,NULL,NULL,NULL),(40091,'NCBI Gene Summary',NULL,14156,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40092,'NCBI Gene PubMed Count',NULL,14156,NULL,NULL,NULL,21,NULL,NULL,NULL),(40093,'NCBI Gene Summary',NULL,14157,NULL,'This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40094,'NCBI Gene PubMed Count',NULL,14157,NULL,NULL,NULL,60,NULL,NULL,NULL),(40095,'NCBI Gene PubMed Count',NULL,14158,NULL,NULL,NULL,9,NULL,NULL,NULL),(40096,'NCBI Gene PubMed Count',NULL,14159,NULL,NULL,NULL,3,NULL,NULL,NULL),(40097,'NCBI Gene Summary',NULL,14160,NULL,'This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(40098,'NCBI Gene PubMed Count',NULL,14160,NULL,NULL,NULL,120,NULL,NULL,NULL),(40099,'NCBI Gene Summary',NULL,14161,NULL,'This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(40100,'NCBI Gene PubMed Count',NULL,14161,NULL,NULL,NULL,14,NULL,NULL,NULL),(40101,'NCBI Gene PubMed Count',NULL,14162,NULL,NULL,NULL,10,NULL,NULL,NULL),(40102,'NCBI Gene Summary',NULL,14163,NULL,'This gene encodes a zinc finger containing protein that functions in the regulation of transcription. This protein was identified as an interacting partner of transcriptional repressor protein Yy1, and also interacts with other transcriptional regulators, including Myc and Polycomb. This protein can promote proteolysis of Yy1. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(40103,'NCBI Gene PubMed Count',NULL,14163,NULL,NULL,NULL,18,NULL,NULL,NULL),(40104,'NCBI Gene Summary',NULL,14164,NULL,'This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer\'s disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(40105,'NCBI Gene PubMed Count',NULL,14164,NULL,NULL,NULL,523,NULL,NULL,NULL),(40106,'NCBI Gene Summary',NULL,14165,NULL,'This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(40107,'NCBI Gene PubMed Count',NULL,14165,NULL,NULL,NULL,29,NULL,NULL,NULL),(40108,'NCBI Gene Summary',NULL,14166,NULL,'This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(40109,'NCBI Gene PubMed Count',NULL,14166,NULL,NULL,NULL,107,NULL,NULL,NULL),(40110,'NCBI Gene Summary',NULL,14167,NULL,'This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40111,'NCBI Gene PubMed Count',NULL,14167,NULL,NULL,NULL,76,NULL,NULL,NULL),(40112,'NCBI Gene Summary',NULL,14168,NULL,'This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes that are expressed exclusively in male germ cells. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This gene contains two copies of a 30 nt tandem repeat. Deletion of a nearby member of this family was implicated in cognitive disability. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(40113,'NCBI Gene PubMed Count',NULL,14168,NULL,NULL,NULL,7,NULL,NULL,NULL),(40114,'NCBI Gene Summary',NULL,14169,NULL,'This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(40115,'NCBI Gene PubMed Count',NULL,14169,NULL,NULL,NULL,386,NULL,NULL,NULL),(40116,'NCBI Gene Summary',NULL,14170,NULL,'Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(40117,'NCBI Gene PubMed Count',NULL,14170,NULL,NULL,NULL,19,NULL,NULL,NULL),(40118,'NCBI Gene Summary',NULL,14171,NULL,'The protein encoded by this gene is a shared subunit of two multi-component complexes, the histone acetyltransferase complex TRRAP/TIP60 as well as the chromatin remodeling SRCAP-containing complex. The TRRAP/TIP60 complex acetylates nucleosomal histones important for transcriptional regulation, double strand DNA break repair and apoptosis. The SRCAP-containing complex catalyzes the exchange of histone H2A with the histone variant Htz1 (H2AFZ) into nucleosomes. This protein may be responsible for binding H2AFZ, which has a role in chromosome segregation. This protein may also have a role in regulating long-term hematopoietic stem cell activity. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(40119,'NCBI Gene PubMed Count',NULL,14171,NULL,NULL,NULL,16,NULL,NULL,NULL),(40120,'NCBI Gene PubMed Count',NULL,14172,NULL,NULL,NULL,12,NULL,NULL,NULL),(40121,'NCBI Gene Summary',NULL,14173,NULL,'The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein that is a transcriptional coactivator of estrogen receptor alpha and progesterone receptor. Defects in this gene have been associated with hearing impairment. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(40122,'NCBI Gene PubMed Count',NULL,14173,NULL,NULL,NULL,27,NULL,NULL,NULL),(40123,'NCBI Gene PubMed Count',NULL,14174,NULL,NULL,NULL,17,NULL,NULL,NULL),(40124,'NCBI Gene PubMed Count',NULL,14175,NULL,NULL,NULL,7,NULL,NULL,NULL),(40125,'NCBI Gene PubMed Count',NULL,14177,NULL,NULL,NULL,3,NULL,NULL,NULL),(40126,'NCBI Gene Summary',NULL,14178,NULL,'This gene product is one of the SNARE recognition molecules implicated in vesicular transport between secretory compartments. It is a membrane associated, isoprenylated protein that functions at the endoplasmic reticulum-Golgi transport step. This protein is highly conserved from yeast to human and can functionally complement the loss of the yeast homolog in the yeast secretory pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40127,'NCBI Gene PubMed Count',NULL,14178,NULL,NULL,NULL,21,NULL,NULL,NULL),(40128,'NCBI Gene PubMed Count',NULL,14184,NULL,NULL,NULL,19,NULL,NULL,NULL),(40129,'NCBI Gene PubMed Count',NULL,14185,NULL,NULL,NULL,15,NULL,NULL,NULL),(40130,'NCBI Gene PubMed Count',NULL,14190,NULL,NULL,NULL,8,NULL,NULL,NULL),(40131,'NCBI Gene Summary',NULL,14198,NULL,'The protein encoded by this gene is a transcription factor that upregulates expression of MDM2, which negatively regulates p53 expression. This gene is highly expressed in prostate cancer cells, which leads to a reduction in p53 levels and an increase in growth of the cancer cells. Several transcript variants have been found for this gene, but only one of them is protein-coding. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(40132,'NCBI Gene PubMed Count',NULL,14198,NULL,NULL,NULL,10,NULL,NULL,NULL),(40133,'NCBI Gene PubMed Count',NULL,14199,NULL,NULL,NULL,5,NULL,NULL,NULL),(40134,'NCBI Gene PubMed Count',NULL,14201,NULL,NULL,NULL,1,NULL,NULL,NULL),(40135,'NCBI Gene PubMed Count',NULL,14202,NULL,NULL,NULL,3,NULL,NULL,NULL),(40136,'NCBI Gene PubMed Count',NULL,14205,NULL,NULL,NULL,0,NULL,NULL,NULL),(40137,'NCBI Gene PubMed Count',NULL,14209,NULL,NULL,NULL,2,NULL,NULL,NULL),(40138,'NCBI Gene PubMed Count',NULL,14210,NULL,NULL,NULL,2,NULL,NULL,NULL),(40139,'NCBI Gene PubMed Count',NULL,14213,NULL,NULL,NULL,5,NULL,NULL,NULL),(40140,'NCBI Gene PubMed Count',NULL,14215,NULL,NULL,NULL,9,NULL,NULL,NULL),(40141,'NCBI Gene PubMed Count',NULL,14216,NULL,NULL,NULL,4,NULL,NULL,NULL),(40142,'NCBI Gene PubMed Count',NULL,14217,NULL,NULL,NULL,7,NULL,NULL,NULL),(40143,'NCBI Gene PubMed Count',NULL,14218,NULL,NULL,NULL,13,NULL,NULL,NULL),(40144,'NCBI Gene PubMed Count',NULL,14219,NULL,NULL,NULL,13,NULL,NULL,NULL),(40145,'NCBI Gene PubMed Count',NULL,14220,NULL,NULL,NULL,21,NULL,NULL,NULL),(40146,'NCBI Gene PubMed Count',NULL,14221,NULL,NULL,NULL,3,NULL,NULL,NULL),(40147,'NCBI Gene PubMed Count',NULL,14222,NULL,NULL,NULL,17,NULL,NULL,NULL),(40148,'NCBI Gene PubMed Count',NULL,14223,NULL,NULL,NULL,6,NULL,NULL,NULL),(40149,'NCBI Gene PubMed Count',NULL,14224,NULL,NULL,NULL,11,NULL,NULL,NULL),(40150,'NCBI Gene Summary',NULL,14225,NULL,'This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(40151,'NCBI Gene PubMed Count',NULL,14225,NULL,NULL,NULL,27,NULL,NULL,NULL),(40152,'NCBI Gene Summary',NULL,14229,NULL,'The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(40153,'NCBI Gene PubMed Count',NULL,14229,NULL,NULL,NULL,35,NULL,NULL,NULL),(40154,'NCBI Gene PubMed Count',NULL,14233,NULL,NULL,NULL,8,NULL,NULL,NULL),(40155,'NCBI Gene PubMed Count',NULL,14234,NULL,NULL,NULL,4,NULL,NULL,NULL),(40156,'NCBI Gene PubMed Count',NULL,14235,NULL,NULL,NULL,18,NULL,NULL,NULL),(40157,'NCBI Gene Summary',NULL,14238,NULL,'This gene is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein localizes to the centrosome and nucleolus and may play a role in the regulation of cell division. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(40158,'NCBI Gene PubMed Count',NULL,14238,NULL,NULL,NULL,10,NULL,NULL,NULL),(40159,'NCBI Gene PubMed Count',NULL,14239,NULL,NULL,NULL,8,NULL,NULL,NULL),(40160,'NCBI Gene PubMed Count',NULL,14241,NULL,NULL,NULL,109,NULL,NULL,NULL),(40161,'NCBI Gene PubMed Count',NULL,14242,NULL,NULL,NULL,10,NULL,NULL,NULL),(40162,'NCBI Gene PubMed Count',NULL,14243,NULL,NULL,NULL,12,NULL,NULL,NULL),(40163,'NCBI Gene PubMed Count',NULL,14244,NULL,NULL,NULL,15,NULL,NULL,NULL),(40164,'NCBI Gene Summary',NULL,14245,NULL,'This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(40165,'NCBI Gene PubMed Count',NULL,14245,NULL,NULL,NULL,10,NULL,NULL,NULL),(40166,'NCBI Gene PubMed Count',NULL,14246,NULL,NULL,NULL,9,NULL,NULL,NULL),(40167,'NCBI Gene PubMed Count',NULL,14247,NULL,NULL,NULL,12,NULL,NULL,NULL),(40168,'NCBI Gene PubMed Count',NULL,14249,NULL,NULL,NULL,2,NULL,NULL,NULL),(40169,'NCBI Gene PubMed Count',NULL,14250,NULL,NULL,NULL,0,NULL,NULL,NULL),(40170,'NCBI Gene PubMed Count',NULL,14252,NULL,NULL,NULL,14,NULL,NULL,NULL),(40171,'NCBI Gene PubMed Count',NULL,14254,NULL,NULL,NULL,18,NULL,NULL,NULL),(40172,'NCBI Gene Summary',NULL,14255,NULL,'This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue) was associated with increased glutamate secretion via the XCT channels, resulting in neuronal cell death. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(40173,'NCBI Gene PubMed Count',NULL,14255,NULL,NULL,NULL,81,NULL,NULL,NULL),(40174,'NCBI Gene PubMed Count',NULL,14256,NULL,NULL,NULL,10,NULL,NULL,NULL),(40175,'NCBI Gene Summary',NULL,14257,NULL,'This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(40176,'NCBI Gene PubMed Count',NULL,14257,NULL,NULL,NULL,213,NULL,NULL,NULL),(40177,'NCBI Gene Summary',NULL,14258,NULL,'The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(40178,'NCBI Gene PubMed Count',NULL,14258,NULL,NULL,NULL,27,NULL,NULL,NULL),(40179,'NCBI Gene PubMed Count',NULL,14259,NULL,NULL,NULL,16,NULL,NULL,NULL),(40180,'NCBI Gene PubMed Count',NULL,14260,NULL,NULL,NULL,8,NULL,NULL,NULL),(40181,'NCBI Gene PubMed Count',NULL,14261,NULL,NULL,NULL,2,NULL,NULL,NULL),(40182,'NCBI Gene Summary',NULL,14262,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However,  further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40183,'NCBI Gene PubMed Count',NULL,14262,NULL,NULL,NULL,213,NULL,NULL,NULL),(40184,'NCBI Gene Summary',NULL,14263,NULL,'This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40185,'NCBI Gene PubMed Count',NULL,14263,NULL,NULL,NULL,4,NULL,NULL,NULL),(40186,'NCBI Gene Summary',NULL,14264,NULL,'This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40187,'NCBI Gene PubMed Count',NULL,14264,NULL,NULL,NULL,3,NULL,NULL,NULL),(40188,'NCBI Gene Summary',NULL,14265,NULL,'This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(40189,'NCBI Gene PubMed Count',NULL,14265,NULL,NULL,NULL,39,NULL,NULL,NULL),(40190,'NCBI Gene Summary',NULL,14267,NULL,'The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40191,'NCBI Gene PubMed Count',NULL,14267,NULL,NULL,NULL,61,NULL,NULL,NULL),(40192,'NCBI Gene Summary',NULL,14268,NULL,'The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40193,'NCBI Gene PubMed Count',NULL,14268,NULL,NULL,NULL,1124,NULL,NULL,NULL),(40194,'NCBI Gene PubMed Count',NULL,14269,NULL,NULL,NULL,33,NULL,NULL,NULL),(40195,'NCBI Gene Summary',NULL,14270,NULL,'The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(40196,'NCBI Gene PubMed Count',NULL,14270,NULL,NULL,NULL,37,NULL,NULL,NULL),(40197,'NCBI Gene Summary',NULL,14271,NULL,'This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40198,'NCBI Gene PubMed Count',NULL,14271,NULL,NULL,NULL,32,NULL,NULL,NULL),(40199,'NCBI Gene Summary',NULL,14272,NULL,'This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40200,'NCBI Gene PubMed Count',NULL,14272,NULL,NULL,NULL,71,NULL,NULL,NULL),(40201,'NCBI Gene Summary',NULL,14273,NULL,'This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40202,'NCBI Gene PubMed Count',NULL,14273,NULL,NULL,NULL,18,NULL,NULL,NULL),(40203,'NCBI Gene PubMed Count',NULL,14274,NULL,NULL,NULL,10,NULL,NULL,NULL),(40204,'NCBI Gene PubMed Count',NULL,14275,NULL,NULL,NULL,2,NULL,NULL,NULL),(40205,'NCBI Gene Summary',NULL,14276,NULL,'This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40206,'NCBI Gene PubMed Count',NULL,14276,NULL,NULL,NULL,107,NULL,NULL,NULL),(40207,'NCBI Gene Summary',NULL,14277,NULL,'This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. Most WFDC proteins contain only one WFDC domain, and this encoded protein contains two WFDC domains. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40208,'NCBI Gene PubMed Count',NULL,14277,NULL,NULL,NULL,11,NULL,NULL,NULL),(40209,'NCBI Gene Summary',NULL,14278,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(40210,'NCBI Gene PubMed Count',NULL,14278,NULL,NULL,NULL,20,NULL,NULL,NULL),(40211,'NCBI Gene Summary',NULL,14279,NULL,'WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(40212,'NCBI Gene PubMed Count',NULL,14279,NULL,NULL,NULL,10,NULL,NULL,NULL),(40213,'NCBI Gene Summary',NULL,14280,NULL,'This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3\' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(40214,'NCBI Gene PubMed Count',NULL,14280,NULL,NULL,NULL,20,NULL,NULL,NULL),(40215,'NCBI Gene Summary',NULL,14281,NULL,'This intronless gene encodes a protein containing several WD40 repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, including a trp-asp at the C-terminal end. The encoded protein may mediate protein-protein interactions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40216,'NCBI Gene PubMed Count',NULL,14281,NULL,NULL,NULL,8,NULL,NULL,NULL),(40217,'NCBI Gene Summary',NULL,14282,NULL,'The WAP-type four-disulfide core (WFDC) domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many members of the WFDC domain family. This gene encodes a protein which contains a WFDC domain, and is thus a member of the WFDC domain family. This gene and several other gene family members are clustered at 20q13.12. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40218,'NCBI Gene PubMed Count',NULL,14282,NULL,NULL,NULL,7,NULL,NULL,NULL),(40219,'NCBI Gene Summary',NULL,14283,NULL,'This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40220,'NCBI Gene PubMed Count',NULL,14283,NULL,NULL,NULL,5,NULL,NULL,NULL),(40221,'NCBI Gene Summary',NULL,14284,NULL,'This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40222,'NCBI Gene PubMed Count',NULL,14284,NULL,NULL,NULL,85,NULL,NULL,NULL),(40223,'NCBI Gene Summary',NULL,14285,NULL,'The protein encoded by this gene functions to inhibit WNT proteins, which are extracellular signaling molecules that play a role in embryonic development. This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like domains, and is thought to be involved in mesoderm segmentation. This gene functions as a tumor suppressor gene, and has been found to be epigenetically silenced in various cancers. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(40224,'NCBI Gene PubMed Count',NULL,14285,NULL,NULL,NULL,120,NULL,NULL,NULL),(40225,'NCBI Gene Summary',NULL,14286,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is strongly expressed in the cell lines of promyelocytic leukemia and Burkitt\'s lymphoma. In addition, it and another family member, the WNT6 gene, are strongly coexpressed in colorectal cancer cell lines. The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40226,'NCBI Gene PubMed Count',NULL,14286,NULL,NULL,NULL,57,NULL,NULL,NULL),(40227,'NCBI Gene Summary',NULL,14287,NULL,'The protein encoded by this gene is a cytoplasmic serine-threonine kinase that belongs to the protein kinase superfamily. The protein plays an important role in the regulation of electrolyte homeostasis, cell signaling survival, and proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(40228,'NCBI Gene PubMed Count',NULL,14287,NULL,NULL,NULL,25,NULL,NULL,NULL),(40229,'NCBI Gene Summary',NULL,14288,NULL,'This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing\'s sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(40230,'NCBI Gene PubMed Count',NULL,14288,NULL,NULL,NULL,30,NULL,NULL,NULL),(40231,'NCBI Gene Summary',NULL,14289,NULL,'This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(40232,'NCBI Gene PubMed Count',NULL,14289,NULL,NULL,NULL,607,NULL,NULL,NULL),(40233,'NCBI Gene Summary',NULL,14290,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40234,'NCBI Gene PubMed Count',NULL,14290,NULL,NULL,NULL,44,NULL,NULL,NULL),(40235,'NCBI Gene Summary',NULL,14291,NULL,'The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(40236,'NCBI Gene PubMed Count',NULL,14291,NULL,NULL,NULL,22,NULL,NULL,NULL),(40237,'NCBI Gene PubMed Count',NULL,14292,NULL,NULL,NULL,10,NULL,NULL,NULL),(40238,'NCBI Gene Summary',NULL,14293,NULL,'This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(40239,'NCBI Gene PubMed Count',NULL,14293,NULL,NULL,NULL,91,NULL,NULL,NULL),(40240,'NCBI Gene Summary',NULL,14295,NULL,'This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(40241,'NCBI Gene PubMed Count',NULL,14295,NULL,NULL,NULL,10,NULL,NULL,NULL),(40242,'NCBI Gene Summary',NULL,14296,NULL,'This gene encodes a protein with two WD40 repeat domains thought to be involved in an apoptosis via activation of caspase-3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(40243,'NCBI Gene PubMed Count',NULL,14296,NULL,NULL,NULL,16,NULL,NULL,NULL),(40244,'NCBI Gene Summary',NULL,14297,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40245,'NCBI Gene PubMed Count',NULL,14297,NULL,NULL,NULL,20,NULL,NULL,NULL),(40246,'NCBI Gene Summary',NULL,14298,NULL,'The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40247,'NCBI Gene PubMed Count',NULL,14298,NULL,NULL,NULL,15,NULL,NULL,NULL),(40248,'NCBI Gene Summary',NULL,14299,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40249,'NCBI Gene PubMed Count',NULL,14299,NULL,NULL,NULL,41,NULL,NULL,NULL),(40250,'NCBI Gene Summary',NULL,14300,NULL,'WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40251,'NCBI Gene PubMed Count',NULL,14300,NULL,NULL,NULL,65,NULL,NULL,NULL),(40252,'NCBI Gene Summary',NULL,14301,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40253,'NCBI Gene PubMed Count',NULL,14301,NULL,NULL,NULL,22,NULL,NULL,NULL),(40254,'NCBI Gene PubMed Count',NULL,14302,NULL,NULL,NULL,215,NULL,NULL,NULL),(40255,'NCBI Gene Summary',NULL,14303,NULL,'XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(40256,'NCBI Gene PubMed Count',NULL,14303,NULL,NULL,NULL,7,NULL,NULL,NULL),(40257,'NCBI Gene PubMed Count',NULL,14304,NULL,NULL,NULL,8,NULL,NULL,NULL),(40258,'NCBI Gene PubMed Count',NULL,14305,NULL,NULL,NULL,9,NULL,NULL,NULL),(40259,'NCBI Gene Summary',NULL,14306,NULL,'This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(40260,'NCBI Gene PubMed Count',NULL,14306,NULL,NULL,NULL,453,NULL,NULL,NULL),(40261,'NCBI Gene Summary',NULL,14307,NULL,'The protein encoded by this gene is a striated muscle protein and belongs to the Xin actin-binding repeat-containing protein (XIRP) family. The protein functions to protect actin filaments during depolymerization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(40262,'NCBI Gene PubMed Count',NULL,14307,NULL,NULL,NULL,15,NULL,NULL,NULL),(40263,'NCBI Gene Summary',NULL,14308,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5\' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40264,'NCBI Gene PubMed Count',NULL,14308,NULL,NULL,NULL,40,NULL,NULL,NULL),(40265,'NCBI Gene PubMed Count',NULL,14309,NULL,NULL,NULL,12,NULL,NULL,NULL),(40266,'NCBI Gene Summary',NULL,14310,NULL,'The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5\' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(40267,'NCBI Gene PubMed Count',NULL,14310,NULL,NULL,NULL,192,NULL,NULL,NULL),(40268,'NCBI Gene Summary',NULL,14311,NULL,'The protein encoded by this gene is a receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(40269,'NCBI Gene PubMed Count',NULL,14311,NULL,NULL,NULL,19,NULL,NULL,NULL),(40270,'NCBI Gene Summary',NULL,14312,NULL,'This gene encodes a member of the 5\'-3\' exonuclease family. The encoded protein may be involved in replication-dependent histone mRNA degradation, and interacts directly with the enhancer of mRNA-decapping protein 4. In addition to mRNA metabolism, a similar protein in yeast has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly. Mutations in this gene are associated with osteosarcoma, suggesting that the encoded protein may also play a role in bone formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(40271,'NCBI Gene PubMed Count',NULL,14312,NULL,NULL,NULL,37,NULL,NULL,NULL),(40272,'NCBI Gene PubMed Count',NULL,14313,NULL,NULL,NULL,4,NULL,NULL,NULL),(40273,'NCBI Gene Summary',NULL,14314,NULL,'This gene encodes the XG blood group antigen, and is located at the pseudoautosomal boundary on the short (p) arm of chromosome X. The three 5\' exons reside in the pseudoautosomal region and the remaining exons within the X-specific end. A truncated copy of this gene is found on the Y chromosome at the pseudoautosomal boundary. It is transcribed, but not expected to make a Y-chromosome specific gene product. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(40274,'NCBI Gene PubMed Count',NULL,14314,NULL,NULL,NULL,10,NULL,NULL,NULL),(40275,'NCBI Gene Summary',NULL,14315,NULL,'This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(40276,'NCBI Gene PubMed Count',NULL,14315,NULL,NULL,NULL,273,NULL,NULL,NULL),(40277,'NCBI Gene PubMed Count',NULL,14316,NULL,NULL,NULL,9,NULL,NULL,NULL),(40278,'NCBI Gene Summary',NULL,14317,NULL,'This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(40279,'NCBI Gene PubMed Count',NULL,14317,NULL,NULL,NULL,7,NULL,NULL,NULL),(40280,'NCBI Gene Summary',NULL,14318,NULL,'This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40281,'NCBI Gene PubMed Count',NULL,14318,NULL,NULL,NULL,17,NULL,NULL,NULL),(40282,'NCBI Gene PubMed Count',NULL,14319,NULL,NULL,NULL,14,NULL,NULL,NULL),(40283,'NCBI Gene Summary',NULL,14320,NULL,'This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(40284,'NCBI Gene PubMed Count',NULL,14320,NULL,NULL,NULL,46,NULL,NULL,NULL),(40285,'NCBI Gene PubMed Count',NULL,14321,NULL,NULL,NULL,2,NULL,NULL,NULL),(40286,'NCBI Gene Summary',NULL,14322,NULL,' The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton.  The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins.  Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3.  Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene.  The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients.  A transcript variant arising as a result of alternative promoter usage, and containing a different 5\' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40287,'NCBI Gene PubMed Count',NULL,14322,NULL,NULL,NULL,205,NULL,NULL,NULL),(40288,'NCBI Gene PubMed Count',NULL,14323,NULL,NULL,NULL,15,NULL,NULL,NULL),(40289,'NCBI Gene Summary',NULL,14324,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40290,'NCBI Gene PubMed Count',NULL,14324,NULL,NULL,NULL,11,NULL,NULL,NULL),(40291,'NCBI Gene Summary',NULL,14325,NULL,'This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(40292,'NCBI Gene PubMed Count',NULL,14325,NULL,NULL,NULL,15,NULL,NULL,NULL),(40293,'NCBI Gene Summary',NULL,14326,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40294,'NCBI Gene PubMed Count',NULL,14326,NULL,NULL,NULL,64,NULL,NULL,NULL),(40295,'NCBI Gene Summary',NULL,14327,NULL,'This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40296,'NCBI Gene PubMed Count',NULL,14327,NULL,NULL,NULL,58,NULL,NULL,NULL),(40297,'NCBI Gene PubMed Count',NULL,14328,NULL,NULL,NULL,46,NULL,NULL,NULL),(40298,'NCBI Gene Summary',NULL,14329,NULL,'WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(40299,'NCBI Gene PubMed Count',NULL,14329,NULL,NULL,NULL,31,NULL,NULL,NULL),(40300,'NCBI Gene Summary',NULL,14330,NULL,'This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(40301,'NCBI Gene PubMed Count',NULL,14330,NULL,NULL,NULL,11,NULL,NULL,NULL),(40302,'NCBI Gene Summary',NULL,14331,NULL,'This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). The resulting loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. A pseudogene of XBP1 has been identified and localized to chromosome 5. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40303,'NCBI Gene PubMed Count',NULL,14331,NULL,NULL,NULL,227,NULL,NULL,NULL),(40304,'NCBI Gene Summary',NULL,14332,NULL,'This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(40305,'NCBI Gene PubMed Count',NULL,14332,NULL,NULL,NULL,68,NULL,NULL,NULL),(40306,'NCBI Gene Summary',NULL,14333,NULL,'Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(40307,'NCBI Gene PubMed Count',NULL,14333,NULL,NULL,NULL,56,NULL,NULL,NULL),(40308,'NCBI Gene Summary',NULL,14334,NULL,'XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(40309,'NCBI Gene PubMed Count',NULL,14334,NULL,NULL,NULL,19,NULL,NULL,NULL),(40310,'NCBI Gene Summary',NULL,14335,NULL,'The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(40311,'NCBI Gene PubMed Count',NULL,14335,NULL,NULL,NULL,215,NULL,NULL,NULL),(40312,'NCBI Gene Summary',NULL,14336,NULL,'This gene encodes an extracellular matrix (ECM) protein. The protein may be associated with cell adhesion and migration. High levels of expression of the protein in specific parts of the brain suggest its likely role in neural development. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(40313,'NCBI Gene PubMed Count',NULL,14336,NULL,NULL,NULL,12,NULL,NULL,NULL),(40314,'NCBI Gene PubMed Count',NULL,14337,NULL,NULL,NULL,4,NULL,NULL,NULL),(40315,'NCBI Gene Summary',NULL,14338,NULL,'This gene encodes an transmembrane protein that functions as an ATP-dependent transporter of monoamines, such as dopamine, norepinephrine, serotonin, and histamine. This protein transports amine neurotransmitters into synaptic vesicles. Polymorphisms in this gene may be associated with schizophrenia, bipolar disorder, and other neurological/psychiatric ailments. [provided by RefSeq, Jun 2018]',NULL,NULL,NULL,NULL,NULL),(40316,'NCBI Gene PubMed Count',NULL,14338,NULL,NULL,NULL,90,NULL,NULL,NULL),(40317,'NCBI Gene Summary',NULL,14339,NULL,'The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40318,'NCBI Gene PubMed Count',NULL,14339,NULL,NULL,NULL,39,NULL,NULL,NULL),(40319,'NCBI Gene Summary',NULL,14340,NULL,'The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(40320,'NCBI Gene PubMed Count',NULL,14340,NULL,NULL,NULL,43,NULL,NULL,NULL),(40321,'NCBI Gene Summary',NULL,14341,NULL,'The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40322,'NCBI Gene PubMed Count',NULL,14341,NULL,NULL,NULL,68,NULL,NULL,NULL),(40323,'NCBI Gene PubMed Count',NULL,14342,NULL,NULL,NULL,14,NULL,NULL,NULL),(40324,'NCBI Gene PubMed Count',NULL,14343,NULL,NULL,NULL,2,NULL,NULL,NULL),(40325,'NCBI Gene PubMed Count',NULL,14344,NULL,NULL,NULL,13,NULL,NULL,NULL),(40326,'NCBI Gene Summary',NULL,14345,NULL,'This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40327,'NCBI Gene PubMed Count',NULL,14345,NULL,NULL,NULL,5,NULL,NULL,NULL),(40328,'NCBI Gene Summary',NULL,14346,NULL,'This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(40329,'NCBI Gene PubMed Count',NULL,14346,NULL,NULL,NULL,3,NULL,NULL,NULL),(40330,'NCBI Gene Summary',NULL,14347,NULL,'This gene encodes a 5\'-3\' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(40331,'NCBI Gene PubMed Count',NULL,14347,NULL,NULL,NULL,46,NULL,NULL,NULL),(40332,'NCBI Gene Summary',NULL,14348,NULL,'The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(40333,'NCBI Gene PubMed Count',NULL,14348,NULL,NULL,NULL,13,NULL,NULL,NULL),(40334,'NCBI Gene Summary',NULL,14349,NULL,'This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40335,'NCBI Gene PubMed Count',NULL,14349,NULL,NULL,NULL,131,NULL,NULL,NULL),(40336,'NCBI Gene Summary',NULL,14350,NULL,'This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40337,'NCBI Gene PubMed Count',NULL,14350,NULL,NULL,NULL,458,NULL,NULL,NULL),(40338,'NCBI Gene Summary',NULL,14351,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40339,'NCBI Gene PubMed Count',NULL,14351,NULL,NULL,NULL,2,NULL,NULL,NULL),(40340,'NCBI Gene Summary',NULL,14352,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40341,'NCBI Gene PubMed Count',NULL,14352,NULL,NULL,NULL,1,NULL,NULL,NULL),(40342,'NCBI Gene Summary',NULL,14353,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40343,'NCBI Gene PubMed Count',NULL,14353,NULL,NULL,NULL,1,NULL,NULL,NULL),(40344,'NCBI Gene Summary',NULL,14354,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40345,'NCBI Gene PubMed Count',NULL,14354,NULL,NULL,NULL,1,NULL,NULL,NULL),(40346,'NCBI Gene Summary',NULL,14355,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40347,'NCBI Gene PubMed Count',NULL,14355,NULL,NULL,NULL,2,NULL,NULL,NULL),(40348,'NCBI Gene Summary',NULL,14356,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40349,'NCBI Gene PubMed Count',NULL,14356,NULL,NULL,NULL,1,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (40350,'NCBI Gene Summary',NULL,14357,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40351,'NCBI Gene PubMed Count',NULL,14357,NULL,NULL,NULL,3,NULL,NULL,NULL),(40352,'NCBI Gene Summary',NULL,14358,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40353,'NCBI Gene PubMed Count',NULL,14358,NULL,NULL,NULL,1,NULL,NULL,NULL),(40354,'NCBI Gene Summary',NULL,14359,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40355,'NCBI Gene PubMed Count',NULL,14359,NULL,NULL,NULL,1,NULL,NULL,NULL),(40356,'NCBI Gene Summary',NULL,14360,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40357,'NCBI Gene PubMed Count',NULL,14360,NULL,NULL,NULL,1,NULL,NULL,NULL),(40358,'NCBI Gene PubMed Count',NULL,14361,NULL,NULL,NULL,9,NULL,NULL,NULL),(40359,'NCBI Gene PubMed Count',NULL,14362,NULL,NULL,NULL,1,NULL,NULL,NULL),(40360,'NCBI Gene PubMed Count',NULL,14363,NULL,NULL,NULL,1,NULL,NULL,NULL),(40361,'NCBI Gene PubMed Count',NULL,14364,NULL,NULL,NULL,7,NULL,NULL,NULL),(40362,'NCBI Gene Summary',NULL,14365,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40363,'NCBI Gene PubMed Count',NULL,14365,NULL,NULL,NULL,2,NULL,NULL,NULL),(40364,'NCBI Gene Summary',NULL,14366,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40365,'NCBI Gene PubMed Count',NULL,14366,NULL,NULL,NULL,1,NULL,NULL,NULL),(40366,'NCBI Gene PubMed Count',NULL,14367,NULL,NULL,NULL,3,NULL,NULL,NULL),(40367,'NCBI Gene PubMed Count',NULL,14368,NULL,NULL,NULL,2,NULL,NULL,NULL),(40368,'NCBI Gene PubMed Count',NULL,14369,NULL,NULL,NULL,4,NULL,NULL,NULL),(40369,'NCBI Gene Summary',NULL,14370,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40370,'NCBI Gene PubMed Count',NULL,14370,NULL,NULL,NULL,2,NULL,NULL,NULL),(40371,'NCBI Gene PubMed Count',NULL,14371,NULL,NULL,NULL,3,NULL,NULL,NULL),(40372,'NCBI Gene PubMed Count',NULL,14372,NULL,NULL,NULL,5,NULL,NULL,NULL),(40373,'NCBI Gene PubMed Count',NULL,14373,NULL,NULL,NULL,3,NULL,NULL,NULL),(40374,'NCBI Gene Summary',NULL,14374,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40375,'NCBI Gene PubMed Count',NULL,14374,NULL,NULL,NULL,1,NULL,NULL,NULL),(40376,'NCBI Gene Summary',NULL,14375,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40377,'NCBI Gene PubMed Count',NULL,14375,NULL,NULL,NULL,2,NULL,NULL,NULL),(40378,'NCBI Gene PubMed Count',NULL,14376,NULL,NULL,NULL,2,NULL,NULL,NULL),(40379,'NCBI Gene Summary',NULL,14377,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(40380,'NCBI Gene PubMed Count',NULL,14377,NULL,NULL,NULL,1,NULL,NULL,NULL),(40381,'NCBI Gene PubMed Count',NULL,14378,NULL,NULL,NULL,6,NULL,NULL,NULL),(40382,'NCBI Gene PubMed Count',NULL,14379,NULL,NULL,NULL,5,NULL,NULL,NULL),(40383,'NCBI Gene PubMed Count',NULL,14380,NULL,NULL,NULL,3,NULL,NULL,NULL),(40384,'NCBI Gene PubMed Count',NULL,14381,NULL,NULL,NULL,5,NULL,NULL,NULL),(40385,'NCBI Gene PubMed Count',NULL,14382,NULL,NULL,NULL,3,NULL,NULL,NULL),(40386,'NCBI Gene PubMed Count',NULL,14383,NULL,NULL,NULL,2,NULL,NULL,NULL),(40387,'NCBI Gene PubMed Count',NULL,14384,NULL,NULL,NULL,1,NULL,NULL,NULL),(40388,'NCBI Gene Summary',NULL,14385,NULL,'This gene is similar to a mouse gene that is expressed in the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(40389,'NCBI Gene PubMed Count',NULL,14385,NULL,NULL,NULL,5,NULL,NULL,NULL),(40390,'NCBI Gene Summary',NULL,14386,NULL,'This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40391,'NCBI Gene PubMed Count',NULL,14386,NULL,NULL,NULL,3,NULL,NULL,NULL),(40392,'NCBI Gene PubMed Count',NULL,14387,NULL,NULL,NULL,7,NULL,NULL,NULL),(40393,'NCBI Gene PubMed Count',NULL,14388,NULL,NULL,NULL,6,NULL,NULL,NULL),(40394,'NCBI Gene PubMed Count',NULL,14389,NULL,NULL,NULL,11,NULL,NULL,NULL),(40395,'NCBI Gene PubMed Count',NULL,14390,NULL,NULL,NULL,20,NULL,NULL,NULL),(40396,'NCBI Gene Summary',NULL,14391,NULL,'This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(40397,'NCBI Gene PubMed Count',NULL,14391,NULL,NULL,NULL,20,NULL,NULL,NULL),(40398,'NCBI Gene PubMed Count',NULL,14392,NULL,NULL,NULL,19,NULL,NULL,NULL),(40399,'NCBI Gene PubMed Count',NULL,14393,NULL,NULL,NULL,18,NULL,NULL,NULL),(40400,'NCBI Gene PubMed Count',NULL,14394,NULL,NULL,NULL,16,NULL,NULL,NULL),(40401,'NCBI Gene PubMed Count',NULL,14395,NULL,NULL,NULL,2,NULL,NULL,NULL),(40402,'NCBI Gene Summary',NULL,14396,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse and rat counterparts, which indicates that this enzyme is highly conserved in eukaryotes. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(40403,'NCBI Gene PubMed Count',NULL,14396,NULL,NULL,NULL,34,NULL,NULL,NULL),(40404,'NCBI Gene PubMed Count',NULL,14397,NULL,NULL,NULL,2,NULL,NULL,NULL),(40405,'NCBI Gene Summary',NULL,14398,NULL,'This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(40406,'NCBI Gene PubMed Count',NULL,14398,NULL,NULL,NULL,25,NULL,NULL,NULL),(40407,'NCBI Gene Summary',NULL,14399,NULL,'This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn\'s disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(40408,'NCBI Gene PubMed Count',NULL,14399,NULL,NULL,NULL,18,NULL,NULL,NULL),(40409,'NCBI Gene Summary',NULL,14400,NULL,'This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(40410,'NCBI Gene PubMed Count',NULL,14400,NULL,NULL,NULL,218,NULL,NULL,NULL),(40411,'NCBI Gene Summary',NULL,14401,NULL,'This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(40412,'NCBI Gene PubMed Count',NULL,14401,NULL,NULL,NULL,84,NULL,NULL,NULL),(40413,'NCBI Gene PubMed Count',NULL,14402,NULL,NULL,NULL,5,NULL,NULL,NULL),(40414,'NCBI Gene Summary',NULL,14403,NULL,'This gene encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein is able to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme-dependent manner, a characteristic property of ubiquitin carrier proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40415,'NCBI Gene PubMed Count',NULL,14403,NULL,NULL,NULL,26,NULL,NULL,NULL),(40416,'NCBI Gene Summary',NULL,14404,NULL,'This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(40417,'NCBI Gene PubMed Count',NULL,14404,NULL,NULL,NULL,12,NULL,NULL,NULL),(40418,'NCBI Gene PubMed Count',NULL,14405,NULL,NULL,NULL,12,NULL,NULL,NULL),(40419,'NCBI Gene Summary',NULL,14406,NULL,'This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(40420,'NCBI Gene PubMed Count',NULL,14406,NULL,NULL,NULL,9,NULL,NULL,NULL),(40421,'NCBI Gene PubMed Count',NULL,14407,NULL,NULL,NULL,20,NULL,NULL,NULL),(40422,'NCBI Gene PubMed Count',NULL,14408,NULL,NULL,NULL,47,NULL,NULL,NULL),(40423,'NCBI Gene PubMed Count',NULL,14409,NULL,NULL,NULL,11,NULL,NULL,NULL),(40424,'NCBI Gene Summary',NULL,14410,NULL,'This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40425,'NCBI Gene PubMed Count',NULL,14410,NULL,NULL,NULL,163,NULL,NULL,NULL),(40426,'NCBI Gene Summary',NULL,14411,NULL,'The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(40427,'NCBI Gene PubMed Count',NULL,14411,NULL,NULL,NULL,9,NULL,NULL,NULL),(40428,'NCBI Gene PubMed Count',NULL,14412,NULL,NULL,NULL,129,NULL,NULL,NULL),(40429,'NCBI Gene Summary',NULL,14413,NULL,'This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(40430,'NCBI Gene PubMed Count',NULL,14413,NULL,NULL,NULL,8,NULL,NULL,NULL),(40431,'NCBI Gene PubMed Count',NULL,14414,NULL,NULL,NULL,20,NULL,NULL,NULL),(40432,'NCBI Gene PubMed Count',NULL,14415,NULL,NULL,NULL,18,NULL,NULL,NULL),(40433,'NCBI Gene PubMed Count',NULL,14416,NULL,NULL,NULL,12,NULL,NULL,NULL),(40434,'NCBI Gene Summary',NULL,14417,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40435,'NCBI Gene PubMed Count',NULL,14417,NULL,NULL,NULL,31,NULL,NULL,NULL),(40436,'NCBI Gene Summary',NULL,14418,NULL,'This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein\'s ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(40437,'NCBI Gene PubMed Count',NULL,14418,NULL,NULL,NULL,35,NULL,NULL,NULL),(40438,'NCBI Gene Summary',NULL,14419,NULL,'This gene encodes a member of a family of calcium-regulated actin-binding proteins.  This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments.  Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40439,'NCBI Gene PubMed Count',NULL,14419,NULL,NULL,NULL,50,NULL,NULL,NULL),(40440,'NCBI Gene PubMed Count',NULL,14420,NULL,NULL,NULL,8,NULL,NULL,NULL),(40441,'NCBI Gene Summary',NULL,14421,NULL,'This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(40442,'NCBI Gene PubMed Count',NULL,14421,NULL,NULL,NULL,16,NULL,NULL,NULL),(40443,'NCBI Gene PubMed Count',NULL,14422,NULL,NULL,NULL,12,NULL,NULL,NULL),(40444,'NCBI Gene Summary',NULL,14423,NULL,'Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(40445,'NCBI Gene PubMed Count',NULL,14423,NULL,NULL,NULL,36,NULL,NULL,NULL),(40446,'NCBI Gene PubMed Count',NULL,14424,NULL,NULL,NULL,9,NULL,NULL,NULL),(40447,'NCBI Gene Summary',NULL,14425,NULL,'The protein encoded by this gene is a member of the pexin family. It is found in serum and tissues and promotes cell adhesion and spreading, inhibits the membrane-damaging effect of the terminal cytolytic complement pathway, and binds to several serpin serine protease inhibitors. It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40448,'NCBI Gene PubMed Count',NULL,14425,NULL,NULL,NULL,181,NULL,NULL,NULL),(40449,'NCBI Gene Summary',NULL,14426,NULL,'The globular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and regulatory proteins, is known to play a role in the mediation of protein-protein interactions. This gene encodes a ligand of the WW domain of the Yes kinase-associated protein. Readthrough transcription of the neighboring upstream gene, which encodes INO80 complex subunit B, into this gene generates a non-coding transcript. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(40450,'NCBI Gene PubMed Count',NULL,14426,NULL,NULL,NULL,13,NULL,NULL,NULL),(40451,'NCBI Gene Summary',NULL,14427,NULL,'WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(40452,'NCBI Gene PubMed Count',NULL,14427,NULL,NULL,NULL,16,NULL,NULL,NULL),(40453,'NCBI Gene Summary',NULL,14428,NULL,'This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40454,'NCBI Gene PubMed Count',NULL,14428,NULL,NULL,NULL,15,NULL,NULL,NULL),(40455,'NCBI Gene Summary',NULL,14429,NULL,'The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(40456,'NCBI Gene PubMed Count',NULL,14429,NULL,NULL,NULL,24,NULL,NULL,NULL),(40457,'NCBI Gene Summary',NULL,14430,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40458,'NCBI Gene PubMed Count',NULL,14430,NULL,NULL,NULL,9,NULL,NULL,NULL),(40459,'NCBI Gene Summary',NULL,14431,NULL,'This gene encodes a protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40460,'NCBI Gene PubMed Count',NULL,14431,NULL,NULL,NULL,4,NULL,NULL,NULL),(40461,'NCBI Gene Summary',NULL,14432,NULL,'This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(40462,'NCBI Gene PubMed Count',NULL,14432,NULL,NULL,NULL,18,NULL,NULL,NULL),(40463,'NCBI Gene PubMed Count',NULL,14433,NULL,NULL,NULL,17,NULL,NULL,NULL),(40464,'NCBI Gene PubMed Count',NULL,14434,NULL,NULL,NULL,7,NULL,NULL,NULL),(40465,'NCBI Gene PubMed Count',NULL,14435,NULL,NULL,NULL,12,NULL,NULL,NULL),(40466,'NCBI Gene Summary',NULL,14436,NULL,'This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40467,'NCBI Gene PubMed Count',NULL,14436,NULL,NULL,NULL,7,NULL,NULL,NULL),(40468,'NCBI Gene Summary',NULL,14437,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40469,'NCBI Gene PubMed Count',NULL,14437,NULL,NULL,NULL,28,NULL,NULL,NULL),(40470,'NCBI Gene PubMed Count',NULL,14438,NULL,NULL,NULL,16,NULL,NULL,NULL),(40471,'NCBI Gene Summary',NULL,14439,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and may be implicated in development of early embryos as well as germ cell tumors. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(40472,'NCBI Gene PubMed Count',NULL,14439,NULL,NULL,NULL,12,NULL,NULL,NULL),(40473,'NCBI Gene Summary',NULL,14440,NULL,'This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40474,'NCBI Gene PubMed Count',NULL,14440,NULL,NULL,NULL,121,NULL,NULL,NULL),(40475,'NCBI Gene Summary',NULL,14441,NULL,'This gene encodes a WASP interacting protein (WIP)-related protein. It has been shown that this protein has a role in the WASP-mediated organization of the actin cytoskeleton and that this protein is a potential link between the activated platelet-derived growth factor receptor and the actin polymerization machinery. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40476,'NCBI Gene PubMed Count',NULL,14441,NULL,NULL,NULL,21,NULL,NULL,NULL),(40477,'NCBI Gene PubMed Count',NULL,14442,NULL,NULL,NULL,9,NULL,NULL,NULL),(40478,'NCBI Gene Summary',NULL,14443,NULL,'The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is expressed in gastric cancer cell lines. The protein encoded by this gene shows 75% amino acid identity to chicken Wnt14, which has been shown to play a central role in initiating synovial joint formation in the chick limb. This gene is clustered with another family member, WNT3A, in the chromosome 1q42 region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40479,'NCBI Gene PubMed Count',NULL,14443,NULL,NULL,NULL,26,NULL,NULL,NULL),(40480,'NCBI Gene Summary',NULL,14444,NULL,'This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40481,'NCBI Gene PubMed Count',NULL,14444,NULL,NULL,NULL,47,NULL,NULL,NULL),(40482,'NCBI Gene Summary',NULL,14445,NULL,'This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(40483,'NCBI Gene PubMed Count',NULL,14445,NULL,NULL,NULL,17,NULL,NULL,NULL),(40484,'NCBI Gene Summary',NULL,14446,NULL,'This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(40485,'NCBI Gene PubMed Count',NULL,14446,NULL,NULL,NULL,40,NULL,NULL,NULL),(40486,'NCBI Gene Summary',NULL,14447,NULL,'This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(40487,'NCBI Gene PubMed Count',NULL,14447,NULL,NULL,NULL,25,NULL,NULL,NULL),(40488,'NCBI Gene Summary',NULL,14448,NULL,'Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(40489,'NCBI Gene PubMed Count',NULL,14448,NULL,NULL,NULL,27,NULL,NULL,NULL),(40490,'NCBI Gene Summary',NULL,14449,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40491,'NCBI Gene PubMed Count',NULL,14449,NULL,NULL,NULL,34,NULL,NULL,NULL),(40492,'NCBI Gene Summary',NULL,14450,NULL,'This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform diverse functions in endocytosis including membrane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(40493,'NCBI Gene PubMed Count',NULL,14450,NULL,NULL,NULL,27,NULL,NULL,NULL),(40494,'NCBI Gene Summary',NULL,14451,NULL,'This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(40495,'NCBI Gene PubMed Count',NULL,14451,NULL,NULL,NULL,8,NULL,NULL,NULL),(40496,'NCBI Gene Summary',NULL,14452,NULL,'This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40497,'NCBI Gene PubMed Count',NULL,14452,NULL,NULL,NULL,17,NULL,NULL,NULL),(40498,'NCBI Gene Summary',NULL,14453,NULL,'This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(40499,'NCBI Gene PubMed Count',NULL,14453,NULL,NULL,NULL,6,NULL,NULL,NULL),(40500,'NCBI Gene PubMed Count',NULL,14454,NULL,NULL,NULL,10,NULL,NULL,NULL),(40501,'NCBI Gene PubMed Count',NULL,14455,NULL,NULL,NULL,1,NULL,NULL,NULL),(40502,'NCBI Gene PubMed Count',NULL,14456,NULL,NULL,NULL,8,NULL,NULL,NULL),(40503,'NCBI Gene Summary',NULL,14457,NULL,'This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(40504,'NCBI Gene PubMed Count',NULL,14457,NULL,NULL,NULL,6,NULL,NULL,NULL),(40505,'NCBI Gene PubMed Count',NULL,14458,NULL,NULL,NULL,6,NULL,NULL,NULL),(40506,'NCBI Gene Summary',NULL,14459,NULL,'This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(40507,'NCBI Gene PubMed Count',NULL,14459,NULL,NULL,NULL,29,NULL,NULL,NULL),(40508,'NCBI Gene PubMed Count',NULL,14460,NULL,NULL,NULL,9,NULL,NULL,NULL),(40509,'NCBI Gene PubMed Count',NULL,14461,NULL,NULL,NULL,28,NULL,NULL,NULL),(40510,'NCBI Gene Summary',NULL,14462,NULL,'DISCONTINUED: This record has been withdrawn by NCBI staff.',NULL,NULL,NULL,NULL,NULL),(40511,'NCBI Gene PubMed Count',NULL,14462,NULL,NULL,NULL,0,NULL,NULL,NULL),(40512,'NCBI Gene PubMed Count',NULL,14463,NULL,NULL,NULL,19,NULL,NULL,NULL),(40513,'NCBI Gene PubMed Count',NULL,14464,NULL,NULL,NULL,10,NULL,NULL,NULL),(40514,'NCBI Gene Summary',NULL,14465,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40515,'NCBI Gene PubMed Count',NULL,14465,NULL,NULL,NULL,24,NULL,NULL,NULL),(40516,'NCBI Gene PubMed Count',NULL,14466,NULL,NULL,NULL,1,NULL,NULL,NULL),(40517,'NCBI Gene Summary',NULL,14467,NULL,'This gene encodes a protein containing 7 WD repeats. WD repeats are approximately 30 to 40-amino acid domains containing several conserved residues, typically having a Tryptophan-Aspartic acid dipeptide (WD) at the C-terminal end. WD domains are involved in protein-protein interactions in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(40518,'NCBI Gene PubMed Count',NULL,14467,NULL,NULL,NULL,6,NULL,NULL,NULL),(40519,'NCBI Gene PubMed Count',NULL,14468,NULL,NULL,NULL,8,NULL,NULL,NULL),(40520,'NCBI Gene Summary',NULL,14469,NULL,'TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(40521,'NCBI Gene PubMed Count',NULL,14469,NULL,NULL,NULL,14,NULL,NULL,NULL),(40522,'NCBI Gene Summary',NULL,14470,NULL,'This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(40523,'NCBI Gene PubMed Count',NULL,14470,NULL,NULL,NULL,44,NULL,NULL,NULL),(40524,'NCBI Gene Summary',NULL,14471,NULL,'This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms\' tumor. This gene is downregulated in many cancer types and may be involved in the inhibition of cell proliferation. The encoded protein may also play a role in the susceptibility of certain CD4 memory T cells to human immunodeficiency virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(40525,'NCBI Gene PubMed Count',NULL,14471,NULL,NULL,NULL,22,NULL,NULL,NULL),(40526,'NCBI Gene Summary',NULL,14472,NULL,'This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(40527,'NCBI Gene PubMed Count',NULL,14472,NULL,NULL,NULL,10,NULL,NULL,NULL),(40528,'NCBI Gene Summary',NULL,14473,NULL,'This gene encodes a WD40 repeat protein. Members of the WD40 repeat family are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(40529,'NCBI Gene PubMed Count',NULL,14473,NULL,NULL,NULL,17,NULL,NULL,NULL),(40530,'NCBI Gene Summary',NULL,14474,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It may be involved in breast cancer, and its protein signaling is likely a molecular switch that governs adipogenesis. This protein is 96% identical to the mouse Wnt10b protein at the amino acid level. This gene is clustered with another family member, WNT1, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40531,'NCBI Gene PubMed Count',NULL,14474,NULL,NULL,NULL,50,NULL,NULL,NULL),(40532,'NCBI Gene PubMed Count',NULL,14475,NULL,NULL,NULL,4,NULL,NULL,NULL),(40533,'NCBI Gene Summary',NULL,14476,NULL,'This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in normal testis, and in Ewing\'s sarcoma, rhabdomyosarcoma, a breast cancer and a germ cell tumor. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40534,'NCBI Gene PubMed Count',NULL,14476,NULL,NULL,NULL,9,NULL,NULL,NULL),(40535,'NCBI Gene Summary',NULL,14477,NULL,'This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is expressed in placenta and fetal liver/spleen, and may function in inhibiting cancer cell growth. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene generates 2 transcript variants differing in the 5\' UTR. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40536,'NCBI Gene PubMed Count',NULL,14477,NULL,NULL,NULL,10,NULL,NULL,NULL),(40537,'NCBI Gene Summary',NULL,14478,NULL,'This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40538,'NCBI Gene PubMed Count',NULL,14478,NULL,NULL,NULL,4,NULL,NULL,NULL),(40539,'NCBI Gene PubMed Count',NULL,14479,NULL,NULL,NULL,7,NULL,NULL,NULL),(40540,'NCBI Gene PubMed Count',NULL,14480,NULL,NULL,NULL,2,NULL,NULL,NULL),(40541,'NCBI Gene Summary',NULL,14481,NULL,'This gene encodes a member of the WWC family of proteins, which also includes the WWC1 (KIBRA) gene product and the WWC2 gene product. The protein encoded by this gene includes a C2 domain, which is known to mediate homodimerization in the related WWC1 gene product. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(40542,'NCBI Gene PubMed Count',NULL,14481,NULL,NULL,NULL,8,NULL,NULL,NULL),(40543,'NCBI Gene PubMed Count',NULL,14482,NULL,NULL,NULL,27,NULL,NULL,NULL),(40544,'NCBI Gene Summary',NULL,14483,NULL,'This gene product is a member of the Vanin family of proteins that share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(40545,'NCBI Gene PubMed Count',NULL,14483,NULL,NULL,NULL,21,NULL,NULL,NULL),(40546,'NCBI Gene PubMed Count',NULL,14484,NULL,NULL,NULL,5,NULL,NULL,NULL),(40547,'NCBI Gene PubMed Count',NULL,14485,NULL,NULL,NULL,20,NULL,NULL,NULL),(40548,'NCBI Gene Summary',NULL,14486,NULL,'VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(40549,'NCBI Gene PubMed Count',NULL,14486,NULL,NULL,NULL,18,NULL,NULL,NULL),(40550,'NCBI Gene PubMed Count',NULL,14487,NULL,NULL,NULL,7,NULL,NULL,NULL),(40551,'NCBI Gene Summary',NULL,14488,NULL,'The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(40552,'NCBI Gene PubMed Count',NULL,14488,NULL,NULL,NULL,15,NULL,NULL,NULL),(40553,'NCBI Gene Summary',NULL,14489,NULL,'The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(40554,'NCBI Gene PubMed Count',NULL,14489,NULL,NULL,NULL,22,NULL,NULL,NULL),(40555,'NCBI Gene PubMed Count',NULL,14491,NULL,NULL,NULL,14,NULL,NULL,NULL),(40556,'NCBI Gene Summary',NULL,14492,NULL,'This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this gene is a component of a large multimeric complex, termed the retromer complex, which is involved in retrograde transport of proteins from endosomes to the trans-Golgi network. This VPS protein may be involved in the formation of the inner shell of the retromer coat for retrograde vesicles leaving the prevacuolar compartment. Alternative splice variants encoding different isoforms and representing non-protein coding transcripts have been found for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(40557,'NCBI Gene PubMed Count',NULL,14492,NULL,NULL,NULL,39,NULL,NULL,NULL),(40558,'NCBI Gene Summary',NULL,14493,NULL,'The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(40559,'NCBI Gene PubMed Count',NULL,14493,NULL,NULL,NULL,283,NULL,NULL,NULL),(40560,'NCBI Gene Summary',NULL,14494,NULL,'This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40561,'NCBI Gene PubMed Count',NULL,14494,NULL,NULL,NULL,11,NULL,NULL,NULL),(40562,'NCBI Gene PubMed Count',NULL,14495,NULL,NULL,NULL,15,NULL,NULL,NULL),(40563,'NCBI Gene PubMed Count',NULL,14496,NULL,NULL,NULL,19,NULL,NULL,NULL),(40564,'NCBI Gene Summary',NULL,14497,NULL,'This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40565,'NCBI Gene PubMed Count',NULL,14497,NULL,NULL,NULL,34,NULL,NULL,NULL),(40566,'NCBI Gene Summary',NULL,14498,NULL,'The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(40567,'NCBI Gene PubMed Count',NULL,14498,NULL,NULL,NULL,11,NULL,NULL,NULL),(40568,'NCBI Gene Summary',NULL,14499,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(40569,'NCBI Gene PubMed Count',NULL,14499,NULL,NULL,NULL,20,NULL,NULL,NULL),(40570,'NCBI Gene Summary',NULL,14500,NULL,'This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40571,'NCBI Gene PubMed Count',NULL,14500,NULL,NULL,NULL,162,NULL,NULL,NULL),(40572,'NCBI Gene Summary',NULL,14501,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. A similar protein in mouse is thought to be a negative regulator of the pancreatic beta cell proliferation. Mice lacking this gene exhibit increased pancreatic islet mass and higher serum insulin levels, and are mildly obese. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(40573,'NCBI Gene PubMed Count',NULL,14501,NULL,NULL,NULL,9,NULL,NULL,NULL),(40574,'NCBI Gene Summary',NULL,14502,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40575,'NCBI Gene PubMed Count',NULL,14502,NULL,NULL,NULL,38,NULL,NULL,NULL),(40576,'NCBI Gene Summary',NULL,14503,NULL,'This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(40577,'NCBI Gene PubMed Count',NULL,14503,NULL,NULL,NULL,15,NULL,NULL,NULL),(40578,'NCBI Gene Summary',NULL,14504,NULL,'This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation and are characterized by a WNT-core domain. This gene may play a role in human development as well as carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(40579,'NCBI Gene PubMed Count',NULL,14504,NULL,NULL,NULL,40,NULL,NULL,NULL),(40580,'NCBI Gene Summary',NULL,14505,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40581,'NCBI Gene PubMed Count',NULL,14505,NULL,NULL,NULL,94,NULL,NULL,NULL),(40582,'NCBI Gene Summary',NULL,14506,NULL,'This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(40583,'NCBI Gene PubMed Count',NULL,14506,NULL,NULL,NULL,10,NULL,NULL,NULL),(40584,'NCBI Gene Summary',NULL,14507,NULL,'The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(40585,'NCBI Gene PubMed Count',NULL,14507,NULL,NULL,NULL,331,NULL,NULL,NULL),(40586,'NCBI Gene PubMed Count',NULL,14508,NULL,NULL,NULL,11,NULL,NULL,NULL),(40587,'NCBI Gene Summary',NULL,14509,NULL,'Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations in recipients of the same species. The protein encoded by this gene is similar to pheromone receptors and is primarily localized to the olfactory mucosa. An alternate splice variant of this gene is thought to exist, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40588,'NCBI Gene PubMed Count',NULL,14509,NULL,NULL,NULL,13,NULL,NULL,NULL),(40589,'NCBI Gene Summary',NULL,14510,NULL,'This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed in pancreatitis affected acinar cells where the encoded protein mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(40590,'NCBI Gene PubMed Count',NULL,14510,NULL,NULL,NULL,32,NULL,NULL,NULL),(40591,'NCBI Gene Summary',NULL,14511,NULL,'This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(40592,'NCBI Gene PubMed Count',NULL,14511,NULL,NULL,NULL,24,NULL,NULL,NULL),(40593,'NCBI Gene Summary',NULL,14513,NULL,'Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40594,'NCBI Gene PubMed Count',NULL,14513,NULL,NULL,NULL,26,NULL,NULL,NULL),(40595,'NCBI Gene Summary',NULL,14514,NULL,'Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40596,'NCBI Gene PubMed Count',NULL,14514,NULL,NULL,NULL,25,NULL,NULL,NULL),(40597,'NCBI Gene PubMed Count',NULL,14515,NULL,NULL,NULL,6,NULL,NULL,NULL),(40598,'NCBI Gene PubMed Count',NULL,14516,NULL,NULL,NULL,5,NULL,NULL,NULL),(40599,'NCBI Gene PubMed Count',NULL,14517,NULL,NULL,NULL,2,NULL,NULL,NULL),(40600,'NCBI Gene Summary',NULL,14518,NULL,'The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(40601,'NCBI Gene PubMed Count',NULL,14518,NULL,NULL,NULL,42,NULL,NULL,NULL),(40602,'NCBI Gene PubMed Count',NULL,14519,NULL,NULL,NULL,27,NULL,NULL,NULL),(40603,'NCBI Gene Summary',NULL,14520,NULL,'This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(40604,'NCBI Gene PubMed Count',NULL,14520,NULL,NULL,NULL,7,NULL,NULL,NULL),(40605,'NCBI Gene PubMed Count',NULL,14521,NULL,NULL,NULL,5,NULL,NULL,NULL),(40606,'NCBI Gene Summary',NULL,14522,NULL,'The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(40607,'NCBI Gene PubMed Count',NULL,14522,NULL,NULL,NULL,20,NULL,NULL,NULL),(40608,'NCBI Gene PubMed Count',NULL,14523,NULL,NULL,NULL,8,NULL,NULL,NULL),(40609,'NCBI Gene PubMed Count',NULL,14524,NULL,NULL,NULL,3,NULL,NULL,NULL),(40610,'NCBI Gene PubMed Count',NULL,14525,NULL,NULL,NULL,8,NULL,NULL,NULL),(40611,'NCBI Gene PubMed Count',NULL,14526,NULL,NULL,NULL,26,NULL,NULL,NULL),(40612,'NCBI Gene Summary',NULL,14527,NULL,'The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(40613,'NCBI Gene PubMed Count',NULL,14527,NULL,NULL,NULL,28,NULL,NULL,NULL),(40614,'NCBI Gene PubMed Count',NULL,14528,NULL,NULL,NULL,14,NULL,NULL,NULL),(40615,'NCBI Gene Summary',NULL,14529,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40616,'NCBI Gene PubMed Count',NULL,14529,NULL,NULL,NULL,7,NULL,NULL,NULL),(40617,'NCBI Gene PubMed Count',NULL,14530,NULL,NULL,NULL,13,NULL,NULL,NULL),(40618,'NCBI Gene PubMed Count',NULL,14531,NULL,NULL,NULL,5,NULL,NULL,NULL),(40619,'NCBI Gene Summary',NULL,14532,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40620,'NCBI Gene PubMed Count',NULL,14532,NULL,NULL,NULL,90,NULL,NULL,NULL),(40621,'NCBI Gene Summary',NULL,14533,NULL,'This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(40622,'NCBI Gene PubMed Count',NULL,14533,NULL,NULL,NULL,91,NULL,NULL,NULL),(40623,'NCBI Gene Summary',NULL,14534,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40624,'NCBI Gene PubMed Count',NULL,14534,NULL,NULL,NULL,13,NULL,NULL,NULL),(40625,'NCBI Gene Summary',NULL,14535,NULL,'This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40626,'NCBI Gene PubMed Count',NULL,14535,NULL,NULL,NULL,33,NULL,NULL,NULL),(40627,'NCBI Gene Summary',NULL,14536,NULL,'This gene encodes a protein belonging to the \'with no lysine\' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(40628,'NCBI Gene PubMed Count',NULL,14536,NULL,NULL,NULL,31,NULL,NULL,NULL),(40629,'NCBI Gene Summary',NULL,14537,NULL,'The protein encoded by this gene is a chemokine receptor belonging to the G protein-coupled receptor superfamily. The family members are characterized by the presence of 7 transmembrane domains and numerous conserved amino acids. This receptor is most closely related to RBS11 and the MIP1-alpha/RANTES receptor. It transduces a signal by increasing the intracellular calcium ions level. The viral macrophage inflammatory protein-II is an antagonist of this receptor and blocks signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40630,'NCBI Gene PubMed Count',NULL,14537,NULL,NULL,NULL,28,NULL,NULL,NULL),(40631,'NCBI Gene PubMed Count',NULL,14538,NULL,NULL,NULL,2,NULL,NULL,NULL),(40632,'NCBI Gene PubMed Count',NULL,14539,NULL,NULL,NULL,14,NULL,NULL,NULL),(40633,'NCBI Gene Summary',NULL,14540,NULL,'This gene encodes an enzyme important in the vitamin K cycle, which is involved in the carboxylation of glutamate residues present in vitamin K-dependent proteins. The encoded enzyme catalyzes the de-epoxidation of vitamin K 2,3-epoxide. Oxidative stress may upregulate expression of this gene and the encoded protein may protect cells and membrane proteins form oxidative damage. This gene and a related gene (Gene ID: 79001) may have arisen by gene duplication of an ancestral gene. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(40634,'NCBI Gene PubMed Count',NULL,14540,NULL,NULL,NULL,18,NULL,NULL,NULL),(40635,'NCBI Gene Summary',NULL,14541,NULL,'The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(40636,'NCBI Gene PubMed Count',NULL,14541,NULL,NULL,NULL,94,NULL,NULL,NULL),(40637,'NCBI Gene Summary',NULL,14542,NULL,'This gene is the central gene in a cluster of three vanin genes on chromosome 6q23-q24. Extensive alternative splicing has been described; the two most common variants are represented as RefSeqs. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(40638,'NCBI Gene PubMed Count',NULL,14542,NULL,NULL,NULL,10,NULL,NULL,NULL),(40639,'NCBI Gene PubMed Count',NULL,14543,NULL,NULL,NULL,5,NULL,NULL,NULL),(40640,'NCBI Gene Summary',NULL,14545,NULL,'This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(40641,'NCBI Gene PubMed Count',NULL,14545,NULL,NULL,NULL,26,NULL,NULL,NULL),(40642,'NCBI Gene Summary',NULL,14546,NULL,'This gene encodes a protein subunit of the ESCRT-I complex (endosomal complexes required for transport), which functions in the transport and sorting of proteins into subcellular vesicles. This complex can also be hijacked to facilitate the budding of enveloped viruses from the cell membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(40643,'NCBI Gene PubMed Count',NULL,14546,NULL,NULL,NULL,44,NULL,NULL,NULL),(40644,'NCBI Gene PubMed Count',NULL,14547,NULL,NULL,NULL,40,NULL,NULL,NULL),(40645,'NCBI Gene Summary',NULL,14548,NULL,'Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(40646,'NCBI Gene PubMed Count',NULL,14548,NULL,NULL,NULL,19,NULL,NULL,NULL),(40647,'NCBI Gene Summary',NULL,14549,NULL,'This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(40648,'NCBI Gene PubMed Count',NULL,14549,NULL,NULL,NULL,44,NULL,NULL,NULL),(40649,'NCBI Gene PubMed Count',NULL,14550,NULL,NULL,NULL,7,NULL,NULL,NULL),(40650,'NCBI Gene Summary',NULL,14551,NULL,'The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40651,'NCBI Gene PubMed Count',NULL,14551,NULL,NULL,NULL,42,NULL,NULL,NULL),(40652,'NCBI Gene Summary',NULL,14552,NULL,'This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(40653,'NCBI Gene PubMed Count',NULL,14552,NULL,NULL,NULL,848,NULL,NULL,NULL),(40654,'NCBI Gene PubMed Count',NULL,14553,NULL,NULL,NULL,7,NULL,NULL,NULL),(40655,'NCBI Gene PubMed Count',NULL,14554,NULL,NULL,NULL,5,NULL,NULL,NULL),(40656,'NCBI Gene PubMed Count',NULL,14555,NULL,NULL,NULL,14,NULL,NULL,NULL),(40657,'NCBI Gene Summary',NULL,14556,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(40658,'NCBI Gene PubMed Count',NULL,14556,NULL,NULL,NULL,16,NULL,NULL,NULL),(40659,'NCBI Gene Summary',NULL,14557,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(40660,'NCBI Gene PubMed Count',NULL,14557,NULL,NULL,NULL,20,NULL,NULL,NULL),(40661,'NCBI Gene Summary',NULL,14558,NULL,'This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Read-through transcription exists between this gene and the upstream SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(40662,'NCBI Gene PubMed Count',NULL,14558,NULL,NULL,NULL,6,NULL,NULL,NULL),(40663,'NCBI Gene Summary',NULL,14559,NULL,'This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(40664,'NCBI Gene PubMed Count',NULL,14559,NULL,NULL,NULL,29,NULL,NULL,NULL),(40665,'NCBI Gene Summary',NULL,14560,NULL,'This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40666,'NCBI Gene PubMed Count',NULL,14560,NULL,NULL,NULL,27,NULL,NULL,NULL),(40667,'NCBI Gene Summary',NULL,14561,NULL,'This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40668,'NCBI Gene PubMed Count',NULL,14561,NULL,NULL,NULL,48,NULL,NULL,NULL),(40669,'NCBI Gene Summary',NULL,14562,NULL,'This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(40670,'NCBI Gene PubMed Count',NULL,14562,NULL,NULL,NULL,33,NULL,NULL,NULL),(40671,'NCBI Gene Summary',NULL,14563,NULL,'This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(40672,'NCBI Gene PubMed Count',NULL,14563,NULL,NULL,NULL,112,NULL,NULL,NULL),(40673,'NCBI Gene Summary',NULL,14564,NULL,'This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(40674,'NCBI Gene PubMed Count',NULL,14564,NULL,NULL,NULL,224,NULL,NULL,NULL),(40675,'NCBI Gene Summary',NULL,14565,NULL,'Werner\'s syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by this gene interacts with the exonuclease-containing N-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damage by interacting with polyubiquinated proteins and also binds to DNA polymerase delta and increases the initiation frequency of DNA polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(40676,'NCBI Gene PubMed Count',NULL,14565,NULL,NULL,NULL,26,NULL,NULL,NULL),(40677,'NCBI Gene Summary',NULL,14566,NULL,'This gene encodes a type III intermediate filament protein. Intermediate filaments, along with microtubules and actin microfilaments, make up the cytoskeleton. The encoded protein is responsible for maintaining cell shape and integrity of the cytoplasm, and stabilizing cytoskeletal interactions. This protein is involved in neuritogenesis and cholesterol transport and functions as an organizer of a number of other critical proteins involved in cell attachment, migration, and signaling. Bacterial and viral pathogens have been shown to attach to this protein on the host cell surface. Mutations in this gene are associated with congenital cataracts in human patients. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(40678,'NCBI Gene PubMed Count',NULL,14566,NULL,NULL,NULL,419,NULL,NULL,NULL),(40679,'NCBI Gene PubMed Count',NULL,14567,NULL,NULL,NULL,3,NULL,NULL,NULL),(40680,'NCBI Gene Summary',NULL,14568,NULL,'This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(40681,'NCBI Gene PubMed Count',NULL,14568,NULL,NULL,NULL,21,NULL,NULL,NULL),(40682,'NCBI Gene Summary',NULL,14569,NULL,'This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(40683,'NCBI Gene PubMed Count',NULL,14569,NULL,NULL,NULL,63,NULL,NULL,NULL),(40684,'NCBI Gene Summary',NULL,14570,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\'\', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40685,'NCBI Gene PubMed Count',NULL,14570,NULL,NULL,NULL,50,NULL,NULL,NULL),(40686,'NCBI Gene Summary',NULL,14571,NULL,'This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(40687,'NCBI Gene PubMed Count',NULL,14571,NULL,NULL,NULL,26,NULL,NULL,NULL),(40688,'NCBI Gene Summary',NULL,14573,NULL,'The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40689,'NCBI Gene PubMed Count',NULL,14573,NULL,NULL,NULL,58,NULL,NULL,NULL),(40690,'NCBI Gene Summary',NULL,14574,NULL,'This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40691,'NCBI Gene PubMed Count',NULL,14574,NULL,NULL,NULL,18,NULL,NULL,NULL),(40692,'NCBI Gene Summary',NULL,14575,NULL,'C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(40693,'NCBI Gene PubMed Count',NULL,14575,NULL,NULL,NULL,33,NULL,NULL,NULL),(40694,'NCBI Gene PubMed Count',NULL,14576,NULL,NULL,NULL,4,NULL,NULL,NULL),(40695,'NCBI Gene PubMed Count',NULL,14577,NULL,NULL,NULL,4,NULL,NULL,NULL),(40696,'NCBI Gene Summary',NULL,14578,NULL,'This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(40697,'NCBI Gene PubMed Count',NULL,14578,NULL,NULL,NULL,24,NULL,NULL,NULL),(40698,'NCBI Gene Summary',NULL,14579,NULL,'The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40699,'NCBI Gene PubMed Count',NULL,14579,NULL,NULL,NULL,32,NULL,NULL,NULL),(40700,'NCBI Gene Summary',NULL,14580,NULL,'The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40701,'NCBI Gene PubMed Count',NULL,14580,NULL,NULL,NULL,67,NULL,NULL,NULL),(40702,'NCBI Gene PubMed Count',NULL,14581,NULL,NULL,NULL,8,NULL,NULL,NULL),(40703,'NCBI Gene Summary',NULL,14582,NULL,'This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(40704,'NCBI Gene PubMed Count',NULL,14582,NULL,NULL,NULL,119,NULL,NULL,NULL),(40705,'NCBI Gene Summary',NULL,14583,NULL,'The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(40706,'NCBI Gene PubMed Count',NULL,14583,NULL,NULL,NULL,11,NULL,NULL,NULL),(40707,'NCBI Gene Summary',NULL,14584,NULL,'This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40708,'NCBI Gene PubMed Count',NULL,14584,NULL,NULL,NULL,5,NULL,NULL,NULL),(40709,'NCBI Gene Summary',NULL,14585,NULL,'This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40710,'NCBI Gene PubMed Count',NULL,14585,NULL,NULL,NULL,13,NULL,NULL,NULL),(40711,'NCBI Gene PubMed Count',NULL,14586,NULL,NULL,NULL,6,NULL,NULL,NULL),(40712,'NCBI Gene PubMed Count',NULL,14588,NULL,NULL,NULL,15,NULL,NULL,NULL),(40713,'NCBI Gene Summary',NULL,14590,NULL,'This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(40714,'NCBI Gene PubMed Count',NULL,14590,NULL,NULL,NULL,31,NULL,NULL,NULL),(40715,'NCBI Gene PubMed Count',NULL,14591,NULL,NULL,NULL,11,NULL,NULL,NULL),(40716,'NCBI Gene PubMed Count',NULL,14592,NULL,NULL,NULL,7,NULL,NULL,NULL),(40717,'NCBI Gene Summary',NULL,14593,NULL,'VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(40718,'NCBI Gene PubMed Count',NULL,14593,NULL,NULL,NULL,18,NULL,NULL,NULL),(40719,'NCBI Gene PubMed Count',NULL,14594,NULL,NULL,NULL,6,NULL,NULL,NULL),(40720,'NCBI Gene PubMed Count',NULL,14595,NULL,NULL,NULL,1,NULL,NULL,NULL),(40721,'NCBI Gene PubMed Count',NULL,14596,NULL,NULL,NULL,35,NULL,NULL,NULL),(40722,'NCBI Gene Summary',NULL,14597,NULL,'This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(40723,'NCBI Gene PubMed Count',NULL,14597,NULL,NULL,NULL,13,NULL,NULL,NULL),(40724,'NCBI Gene Summary',NULL,14598,NULL,'This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(40725,'NCBI Gene PubMed Count',NULL,14598,NULL,NULL,NULL,29,NULL,NULL,NULL),(40726,'NCBI Gene PubMed Count',NULL,14599,NULL,NULL,NULL,5,NULL,NULL,NULL),(40727,'NCBI Gene PubMed Count',NULL,14600,NULL,NULL,NULL,11,NULL,NULL,NULL),(40728,'NCBI Gene PubMed Count',NULL,14601,NULL,NULL,NULL,7,NULL,NULL,NULL),(40729,'NCBI Gene Summary',NULL,14602,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40730,'NCBI Gene PubMed Count',NULL,14602,NULL,NULL,NULL,30,NULL,NULL,NULL),(40731,'NCBI Gene Summary',NULL,14603,NULL,'The function and protein-coding potential of this gene is unknown. The exon combination is based on AB058778.1 for which two possible open reading frames can be predicted (with start codons at nucleotide 26 or 2614). The position of the first ORF stop codon is consistent with a prediction of nonsense-mediated decay. Given the observation of the first ORF and its length, a predicted translation of the second ORF is inconsistent with the translation leaky scanning theory. Therefore, this gene is represented as a non-protein-coding transcript. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(40732,'NCBI Gene PubMed Count',NULL,14603,NULL,NULL,NULL,2,NULL,NULL,NULL),(40733,'NCBI Gene PubMed Count',NULL,14604,NULL,NULL,NULL,8,NULL,NULL,NULL),(40734,'NCBI Gene Summary',NULL,14605,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40735,'NCBI Gene PubMed Count',NULL,14605,NULL,NULL,NULL,17,NULL,NULL,NULL),(40736,'NCBI Gene Summary',NULL,14606,NULL,'This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40737,'NCBI Gene PubMed Count',NULL,14606,NULL,NULL,NULL,6,NULL,NULL,NULL),(40738,'NCBI Gene Summary',NULL,14607,NULL,'This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40739,'NCBI Gene PubMed Count',NULL,14607,NULL,NULL,NULL,8,NULL,NULL,NULL),(40740,'NCBI Gene Summary',NULL,14608,NULL,'This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40741,'NCBI Gene PubMed Count',NULL,14608,NULL,NULL,NULL,6,NULL,NULL,NULL),(40742,'NCBI Gene Summary',NULL,14609,NULL,'This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(40743,'NCBI Gene PubMed Count',NULL,14609,NULL,NULL,NULL,177,NULL,NULL,NULL),(40744,'NCBI Gene Summary',NULL,14610,NULL,'This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40745,'NCBI Gene PubMed Count',NULL,14610,NULL,NULL,NULL,59,NULL,NULL,NULL),(40746,'NCBI Gene Summary',NULL,14611,NULL,'The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(40747,'NCBI Gene PubMed Count',NULL,14611,NULL,NULL,NULL,26,NULL,NULL,NULL),(40748,'NCBI Gene Summary',NULL,14612,NULL,'This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40749,'NCBI Gene PubMed Count',NULL,14612,NULL,NULL,NULL,8,NULL,NULL,NULL),(40750,'NCBI Gene Summary',NULL,14613,NULL,'This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are activated during apoptosis. The proportion of IAPs and proteins which interfere with their activity, such as the encoded protein, affect the progress of the apoptosis signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(40751,'NCBI Gene PubMed Count',NULL,14613,NULL,NULL,NULL,68,NULL,NULL,NULL),(40752,'NCBI Gene Summary',NULL,14615,NULL,'This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40753,'NCBI Gene PubMed Count',NULL,14615,NULL,NULL,NULL,17,NULL,NULL,NULL),(40754,'NCBI Gene Summary',NULL,14616,NULL,'This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(40755,'NCBI Gene PubMed Count',NULL,14616,NULL,NULL,NULL,27,NULL,NULL,NULL),(40756,'NCBI Gene PubMed Count',NULL,14617,NULL,NULL,NULL,14,NULL,NULL,NULL),(40757,'NCBI Gene PubMed Count',NULL,14618,NULL,NULL,NULL,1,NULL,NULL,NULL),(40758,'NCBI Gene Summary',NULL,14619,NULL,'This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(40759,'NCBI Gene PubMed Count',NULL,14619,NULL,NULL,NULL,17,NULL,NULL,NULL),(40760,'NCBI Gene Summary',NULL,14620,NULL,'This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(40761,'NCBI Gene PubMed Count',NULL,14620,NULL,NULL,NULL,84,NULL,NULL,NULL),(40762,'NCBI Gene Summary',NULL,14621,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(40763,'NCBI Gene PubMed Count',NULL,14621,NULL,NULL,NULL,17,NULL,NULL,NULL),(40764,'NCBI Gene Summary',NULL,14622,NULL,'This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(40765,'NCBI Gene PubMed Count',NULL,14622,NULL,NULL,NULL,21,NULL,NULL,NULL),(40766,'NCBI Gene Summary',NULL,14623,NULL,'This gene encodes a member of the WD repeat protein family with nine WD repeats. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(40767,'NCBI Gene PubMed Count',NULL,14623,NULL,NULL,NULL,12,NULL,NULL,NULL),(40768,'NCBI Gene Summary',NULL,14624,NULL,'This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(40769,'NCBI Gene PubMed Count',NULL,14624,NULL,NULL,NULL,17,NULL,NULL,NULL),(40770,'NCBI Gene Summary',NULL,14625,NULL,'This antimicrobial gene encodes a member of the chemokine superfamily. Chemokines function in inflammatory and immunological responses, inducing leukocyte migration and activation. The encoded protein is a member of the C-chemokine subfamily, retaining only two of four cysteines conserved in other chemokines, and is thought to be specifically chemotactic for T cells. This gene and a closely related family member are located on the long arm of chromosome 1. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(40771,'NCBI Gene PubMed Count',NULL,14625,NULL,NULL,NULL,52,NULL,NULL,NULL),(40772,'NCBI Gene Summary',NULL,14626,NULL,'This gene belongs to the CX3C subgroup of chemokines, characterized by the number of amino acids located between the conserved cysteine residues. This is the only member of the CX3C subgroup, which contains three amino acids between cysteine residues, resulting in a Cys-X-X-X-Cys configuration. The encoded protein contains an extended mucin-like stalk with a chemokine domain on top, and exists in both a membrane-anchored form where it acts as a binding molecule, or, in soluble form, as a chemotactic cytokine. The mature form of this protein can be cleaved at the cell surface, yielding different soluble forms that can interact with the G-protein coupled receptor, C-X3-C motif chemokine receptor 1 gene product. This gene plays a role in a wide range of diseases, including cancer, vasculitis, neuropathies, atherosclerosis, inflammatory diseases, and in human immunodeficiency virus infections. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(40773,'NCBI Gene PubMed Count',NULL,14626,NULL,NULL,NULL,266,NULL,NULL,NULL),(40774,'NCBI Gene Summary',NULL,14627,NULL,'Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(40775,'NCBI Gene PubMed Count',NULL,14627,NULL,NULL,NULL,123,NULL,NULL,NULL),(40776,'NCBI Gene PubMed Count',NULL,14628,NULL,NULL,NULL,14,NULL,NULL,NULL),(40777,'NCBI Gene PubMed Count',NULL,14629,NULL,NULL,NULL,7,NULL,NULL,NULL),(40778,'NCBI Gene Summary',NULL,14630,NULL,'The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40779,'NCBI Gene PubMed Count',NULL,14630,NULL,NULL,NULL,299,NULL,NULL,NULL),(40780,'NCBI Gene PubMed Count',NULL,14631,NULL,NULL,NULL,69,NULL,NULL,NULL),(40781,'NCBI Gene Summary',NULL,14632,NULL,'This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40782,'NCBI Gene PubMed Count',NULL,14632,NULL,NULL,NULL,80,NULL,NULL,NULL),(40783,'NCBI Gene Summary',NULL,14633,NULL,'This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal endoplasmic reticulum (ER)-signal sequence, three catalytically active thioredoxin domains and a C-terminal ER-retention sequence. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S5 gene. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(40784,'NCBI Gene PubMed Count',NULL,14633,NULL,NULL,NULL,42,NULL,NULL,NULL),(40785,'NCBI Gene PubMed Count',NULL,14634,NULL,NULL,NULL,39,NULL,NULL,NULL),(40786,'NCBI Gene PubMed Count',NULL,14635,NULL,NULL,NULL,23,NULL,NULL,NULL),(40787,'NCBI Gene Summary',NULL,14636,NULL,'The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3\' half of this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(40788,'NCBI Gene PubMed Count',NULL,14636,NULL,NULL,NULL,190,NULL,NULL,NULL),(40789,'NCBI Gene Summary',NULL,14637,NULL,'This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(40790,'NCBI Gene PubMed Count',NULL,14637,NULL,NULL,NULL,17,NULL,NULL,NULL),(40791,'NCBI Gene PubMed Count',NULL,14638,NULL,NULL,NULL,4,NULL,NULL,NULL),(40792,'NCBI Gene Summary',NULL,14639,NULL,'The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40793,'NCBI Gene PubMed Count',NULL,14639,NULL,NULL,NULL,61,NULL,NULL,NULL),(40794,'NCBI Gene Summary',NULL,14640,NULL,'This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(40795,'NCBI Gene PubMed Count',NULL,14640,NULL,NULL,NULL,17,NULL,NULL,NULL),(40796,'NCBI Gene Summary',NULL,14641,NULL,'Regulated degradation of misfolded, damaged or short-lived proteins in eukaryotes occurs via the ubiquitin (Ub)-proteasome system (UPS). An integral part of the UPS system is the ubiquitination of target proteins and covalent linkage of Ub-containing proteins to form polymeric chains, marking them as targets for 26S proteasome-mediated degradation. Ubiquitination of proteins is mediated by a cascade of enzymes which includes E1 (ubiquitin activating), E2 (ubiquitin conjugating), and E3 (ubiquitin ligases) enzymes. This gene encodes a member of the E2 enzyme family. Substrates of this enzyme include the tumor suppressor protein p53 and peroxisomal biogenesis factor 5 (PEX5). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(40797,'NCBI Gene PubMed Count',NULL,14641,NULL,NULL,NULL,64,NULL,NULL,NULL),(40798,'NCBI Gene Summary',NULL,14642,NULL,'The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington\'s disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40799,'NCBI Gene PubMed Count',NULL,14642,NULL,NULL,NULL,38,NULL,NULL,NULL),(40800,'NCBI Gene Summary',NULL,14643,NULL,'The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40801,'NCBI Gene PubMed Count',NULL,14643,NULL,NULL,NULL,54,NULL,NULL,NULL),(40802,'NCBI Gene Summary',NULL,14644,NULL,'Protein kinase CK2 is a ubiquitous and pleiotropic Ser/Thr protein kinase involved in cell growth and transformation. This gene encodes a protein similar to the E2 ubiquitin conjugating enzyme UBC3/CDC34. Studies suggest that CK2-dependent phosphorylation of this ubiquitin-conjugating enzyme functions by regulating beta-TrCP substrate recognition and induces its interaction with beta-TrCP, enhancing beta-catenin degradation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40803,'NCBI Gene PubMed Count',NULL,14644,NULL,NULL,NULL,15,NULL,NULL,NULL),(40804,'NCBI Gene Summary',NULL,14645,NULL,'This gene encodes a nuclear-localized ubiquitin-conjugating enzyme (E2) that, along with ubiquitin-activating (E1) and ligating (E3) enzymes, coordinates the addition of a ubiquitin moiety to existing proteins. The encoded protein promotes the ubiquitination of Fanconi anemia complementation group proteins and may be important in the repair of DNA damage. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(40805,'NCBI Gene PubMed Count',NULL,14645,NULL,NULL,NULL,23,NULL,NULL,NULL),(40806,'NCBI Gene PubMed Count',NULL,14651,NULL,NULL,NULL,15,NULL,NULL,NULL),(40807,'NCBI Gene PubMed Count',NULL,14654,NULL,NULL,NULL,14,NULL,NULL,NULL),(40808,'NCBI Gene PubMed Count',NULL,14656,NULL,NULL,NULL,15,NULL,NULL,NULL),(40809,'NCBI Gene Summary',NULL,14657,NULL,'The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(40810,'NCBI Gene PubMed Count',NULL,14657,NULL,NULL,NULL,21,NULL,NULL,NULL),(40811,'NCBI Gene PubMed Count',NULL,14660,NULL,NULL,NULL,8,NULL,NULL,NULL),(40812,'NCBI Gene PubMed Count',NULL,14661,NULL,NULL,NULL,7,NULL,NULL,NULL),(40813,'NCBI Gene PubMed Count',NULL,14670,NULL,NULL,NULL,10,NULL,NULL,NULL),(40814,'NCBI Gene PubMed Count',NULL,14671,NULL,NULL,NULL,22,NULL,NULL,NULL),(40815,'NCBI Gene PubMed Count',NULL,14684,NULL,NULL,NULL,4,NULL,NULL,NULL),(40816,'NCBI Gene Summary',NULL,14685,NULL,'This gene encodes a CCCH-type zinc finger protein that is thought to prevent infection by retroviruses. Studies of the rat homolog indicate that the protein may primarily function to inhibit viral gene expression and induce an innate immunity to viral infection. Alternative splicing occurs at this locus and two variants, each encoding distinct isoforms, are described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40817,'NCBI Gene PubMed Count',NULL,14685,NULL,NULL,NULL,38,NULL,NULL,NULL),(40818,'NCBI Gene PubMed Count',NULL,14686,NULL,NULL,NULL,12,NULL,NULL,NULL),(40819,'NCBI Gene PubMed Count',NULL,14687,NULL,NULL,NULL,9,NULL,NULL,NULL),(40820,'NCBI Gene Summary',NULL,14688,NULL,'This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40821,'NCBI Gene PubMed Count',NULL,14688,NULL,NULL,NULL,61,NULL,NULL,NULL),(40822,'NCBI Gene PubMed Count',NULL,14689,NULL,NULL,NULL,10,NULL,NULL,NULL),(40823,'NCBI Gene PubMed Count',NULL,14690,NULL,NULL,NULL,10,NULL,NULL,NULL),(40824,'NCBI Gene PubMed Count',NULL,14691,NULL,NULL,NULL,15,NULL,NULL,NULL),(40825,'NCBI Gene PubMed Count',NULL,14692,NULL,NULL,NULL,7,NULL,NULL,NULL),(40826,'NCBI Gene PubMed Count',NULL,14693,NULL,NULL,NULL,34,NULL,NULL,NULL),(40827,'NCBI Gene PubMed Count',NULL,14694,NULL,NULL,NULL,14,NULL,NULL,NULL),(40828,'NCBI Gene PubMed Count',NULL,14695,NULL,NULL,NULL,6,NULL,NULL,NULL),(40829,'NCBI Gene Summary',NULL,14696,NULL,'This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3\'-end pre-mRNA processing and may be required for cell cycle progression to S phase. Expression level and methylation status of this gene may be correlated with bone mineral density. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(40830,'NCBI Gene PubMed Count',NULL,14696,NULL,NULL,NULL,18,NULL,NULL,NULL),(40831,'NCBI Gene PubMed Count',NULL,14697,NULL,NULL,NULL,5,NULL,NULL,NULL),(40832,'NCBI Gene Summary',NULL,14698,NULL,'The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results in a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(40833,'NCBI Gene PubMed Count',NULL,14698,NULL,NULL,NULL,42,NULL,NULL,NULL),(40834,'NCBI Gene PubMed Count',NULL,14699,NULL,NULL,NULL,5,NULL,NULL,NULL),(40835,'NCBI Gene PubMed Count',NULL,14700,NULL,NULL,NULL,7,NULL,NULL,NULL),(40836,'NCBI Gene PubMed Count',NULL,14701,NULL,NULL,NULL,11,NULL,NULL,NULL),(40837,'NCBI Gene PubMed Count',NULL,14702,NULL,NULL,NULL,5,NULL,NULL,NULL),(40838,'NCBI Gene PubMed Count',NULL,14704,NULL,NULL,NULL,17,NULL,NULL,NULL),(40839,'NCBI Gene Summary',NULL,14708,NULL,'This gene encodes a member of the zinc finger domain-containing protein family. This family member contains multiple Cys2-His2(C2H2)-type zinc finger domains, the most common type of zinc finger domain that self-folds to form a beta-beta-alpha structure that binds a zinc ion. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(40840,'NCBI Gene PubMed Count',NULL,14708,NULL,NULL,NULL,12,NULL,NULL,NULL),(40841,'NCBI Gene PubMed Count',NULL,14709,NULL,NULL,NULL,13,NULL,NULL,NULL),(40842,'NCBI Gene PubMed Count',NULL,14710,NULL,NULL,NULL,5,NULL,NULL,NULL),(40843,'NCBI Gene Summary',NULL,14711,NULL,'This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(40844,'NCBI Gene PubMed Count',NULL,14711,NULL,NULL,NULL,22,NULL,NULL,NULL),(40845,'NCBI Gene PubMed Count',NULL,14712,NULL,NULL,NULL,9,NULL,NULL,NULL),(40846,'NCBI Gene PubMed Count',NULL,14713,NULL,NULL,NULL,88,NULL,NULL,NULL),(40847,'NCBI Gene PubMed Count',NULL,14714,NULL,NULL,NULL,8,NULL,NULL,NULL),(40848,'NCBI Gene PubMed Count',NULL,14715,NULL,NULL,NULL,4,NULL,NULL,NULL),(40849,'NCBI Gene Summary',NULL,14716,NULL,'This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(40850,'NCBI Gene PubMed Count',NULL,14716,NULL,NULL,NULL,16,NULL,NULL,NULL),(40851,'NCBI Gene Summary',NULL,14717,NULL,'This gene encodes a protein containing Cys2-His2 (C2H2)-type zinc fingers, which are similar to those found in the nuclear matrix protein matrin 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(40852,'NCBI Gene PubMed Count',NULL,14717,NULL,NULL,NULL,11,NULL,NULL,NULL),(40853,'NCBI Gene PubMed Count',NULL,14718,NULL,NULL,NULL,2,NULL,NULL,NULL),(40854,'NCBI Gene PubMed Count',NULL,14719,NULL,NULL,NULL,8,NULL,NULL,NULL),(40855,'NCBI Gene PubMed Count',NULL,14720,NULL,NULL,NULL,3,NULL,NULL,NULL),(40856,'NCBI Gene PubMed Count',NULL,14721,NULL,NULL,NULL,15,NULL,NULL,NULL),(40857,'NCBI Gene PubMed Count',NULL,14722,NULL,NULL,NULL,6,NULL,NULL,NULL),(40858,'NCBI Gene Summary',NULL,14723,NULL,'This gene encodes a protein containing many tandem zinc-finger motifs. Zinc fingers are protein or nucleic acid-binding domains, and may be involved in a variety of functions, including regulation of transcription. This gene is located in a cluster of similar genes encoding zinc finger proteins on chromosome 19. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(40859,'NCBI Gene PubMed Count',NULL,14723,NULL,NULL,NULL,9,NULL,NULL,NULL),(40860,'NCBI Gene PubMed Count',NULL,14724,NULL,NULL,NULL,5,NULL,NULL,NULL),(40861,'NCBI Gene Summary',NULL,14725,NULL,'This gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processes, including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(40862,'NCBI Gene PubMed Count',NULL,14725,NULL,NULL,NULL,12,NULL,NULL,NULL),(40863,'NCBI Gene Summary',NULL,14726,NULL,'The protein encoded by this gene contains a C2H2 zinc finger, and has been shown to function as a transcriptional repressor. The Kruppel-associated box (KRAB) domain of this protein is found to be responsible for its transcriptional repression activity. RING finger containing protein TIF1 was reported to interact with the KRAB domain, and may serve as a mediator for the repression activity of this protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40864,'NCBI Gene PubMed Count',NULL,14726,NULL,NULL,NULL,16,NULL,NULL,NULL),(40865,'NCBI Gene Summary',NULL,14730,NULL,'This gene encodes a member of the YTH (YT521-B homology) domain protein family. The YTH domain is common in eukaryotes, is often found in the middle of the protein sequence, and may function in binding to RNA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(40866,'NCBI Gene PubMed Count',NULL,14730,NULL,NULL,NULL,23,NULL,NULL,NULL),(40867,'NCBI Gene Summary',NULL,14731,NULL,'This gene encodes a zinc finger protein. The encoded protein contains 4 C2H2-type zinc fingers, which are commonly found in transcription factors. A variety of functions may be performed by this type of zinc finger protein, including the binding of DNA or RNA. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(40868,'NCBI Gene PubMed Count',NULL,14731,NULL,NULL,NULL,7,NULL,NULL,NULL),(40869,'NCBI Gene PubMed Count',NULL,14732,NULL,NULL,NULL,14,NULL,NULL,NULL),(40870,'NCBI Gene PubMed Count',NULL,14733,NULL,NULL,NULL,4,NULL,NULL,NULL),(40871,'NCBI Gene PubMed Count',NULL,14734,NULL,NULL,NULL,17,NULL,NULL,NULL),(40872,'NCBI Gene PubMed Count',NULL,14735,NULL,NULL,NULL,9,NULL,NULL,NULL),(40873,'NCBI Gene Summary',NULL,14736,NULL,'The protein encoded by this transposon-derived intronless gene is a transcriptional repressor that binds to the consensus sequence 5\'-GCTCGC-3\'. The encoded protein has been shown to repress IGF2 transcription. This gene is located within the first intron of the ZC3H11A gene. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(40874,'NCBI Gene PubMed Count',NULL,14736,NULL,NULL,NULL,8,NULL,NULL,NULL),(40875,'NCBI Gene PubMed Count',NULL,14737,NULL,NULL,NULL,33,NULL,NULL,NULL),(40876,'NCBI Gene PubMed Count',NULL,14738,NULL,NULL,NULL,6,NULL,NULL,NULL),(40877,'NCBI Gene PubMed Count',NULL,14739,NULL,NULL,NULL,7,NULL,NULL,NULL),(40878,'NCBI Gene Summary',NULL,14740,NULL,'This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40879,'NCBI Gene PubMed Count',NULL,14740,NULL,NULL,NULL,33,NULL,NULL,NULL),(40880,'NCBI Gene Summary',NULL,14741,NULL,'The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(40881,'NCBI Gene PubMed Count',NULL,14741,NULL,NULL,NULL,207,NULL,NULL,NULL),(40882,'NCBI Gene Summary',NULL,14742,NULL,'This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 3. However, the CDS of this intronless gene remains relatively intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. The encoded protein contains six CCHC-type zinc fingers, and is thus thought to function as a transcription factor. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(40883,'NCBI Gene PubMed Count',NULL,14742,NULL,NULL,NULL,7,NULL,NULL,NULL),(40884,'NCBI Gene Summary',NULL,14743,NULL,'This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors in the brain. Transcripts from this gene have been shown to form stable and abundant circular RNAs. Elevated expression of this gene has been observed in gastric cancer and the encoded protein may stimulate migration and invasion of human gastric cancer cells. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(40885,'NCBI Gene PubMed Count',NULL,14743,NULL,NULL,NULL,23,NULL,NULL,NULL),(40886,'NCBI Gene PubMed Count',NULL,14744,NULL,NULL,NULL,10,NULL,NULL,NULL),(40887,'NCBI Gene Summary',NULL,14745,NULL,'This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(40888,'NCBI Gene PubMed Count',NULL,14745,NULL,NULL,NULL,18,NULL,NULL,NULL),(40889,'NCBI Gene PubMed Count',NULL,14746,NULL,NULL,NULL,10,NULL,NULL,NULL),(40890,'NCBI Gene PubMed Count',NULL,14747,NULL,NULL,NULL,5,NULL,NULL,NULL),(40891,'NCBI Gene Summary',NULL,14748,NULL,'This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein represses transcription of the aldolase A gene, which encodes a key enzyme in glycolysis. The encoded zinc-finger protein may also function as a transcriptional co-activator with Wilms\' tumor protein 1 to regulate apoptotic genes in leukemia. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(40892,'NCBI Gene PubMed Count',NULL,14748,NULL,NULL,NULL,27,NULL,NULL,NULL),(40893,'NCBI Gene PubMed Count',NULL,14749,NULL,NULL,NULL,7,NULL,NULL,NULL),(40894,'NCBI Gene PubMed Count',NULL,14750,NULL,NULL,NULL,4,NULL,NULL,NULL),(40895,'NCBI Gene PubMed Count',NULL,14751,NULL,NULL,NULL,15,NULL,NULL,NULL),(40896,'NCBI Gene PubMed Count',NULL,14752,NULL,NULL,NULL,18,NULL,NULL,NULL),(40897,'NCBI Gene PubMed Count',NULL,14753,NULL,NULL,NULL,3,NULL,NULL,NULL),(40898,'NCBI Gene PubMed Count',NULL,14754,NULL,NULL,NULL,44,NULL,NULL,NULL),(40899,'NCBI Gene Summary',NULL,14755,NULL,'This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40900,'NCBI Gene PubMed Count',NULL,14755,NULL,NULL,NULL,25,NULL,NULL,NULL),(40901,'NCBI Gene Summary',NULL,14756,NULL,'Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2003]',NULL,NULL,NULL,NULL,NULL),(40902,'NCBI Gene PubMed Count',NULL,14756,NULL,NULL,NULL,5,NULL,NULL,NULL),(40903,'NCBI Gene PubMed Count',NULL,14757,NULL,NULL,NULL,2,NULL,NULL,NULL),(40904,'NCBI Gene PubMed Count',NULL,14758,NULL,NULL,NULL,3,NULL,NULL,NULL),(40905,'NCBI Gene PubMed Count',NULL,14759,NULL,NULL,NULL,8,NULL,NULL,NULL),(40906,'NCBI Gene PubMed Count',NULL,14760,NULL,NULL,NULL,6,NULL,NULL,NULL),(40907,'NCBI Gene PubMed Count',NULL,14761,NULL,NULL,NULL,2,NULL,NULL,NULL),(40908,'NCBI Gene PubMed Count',NULL,14762,NULL,NULL,NULL,6,NULL,NULL,NULL),(40909,'NCBI Gene PubMed Count',NULL,14763,NULL,NULL,NULL,6,NULL,NULL,NULL),(40910,'NCBI Gene PubMed Count',NULL,14764,NULL,NULL,NULL,5,NULL,NULL,NULL),(40911,'NCBI Gene PubMed Count',NULL,14765,NULL,NULL,NULL,8,NULL,NULL,NULL),(40912,'NCBI Gene Summary',NULL,14766,NULL,'This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with 13 C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40913,'NCBI Gene PubMed Count',NULL,14766,NULL,NULL,NULL,8,NULL,NULL,NULL),(40914,'NCBI Gene PubMed Count',NULL,14767,NULL,NULL,NULL,4,NULL,NULL,NULL),(40915,'NCBI Gene PubMed Count',NULL,14768,NULL,NULL,NULL,5,NULL,NULL,NULL),(40916,'NCBI Gene Summary',NULL,14769,NULL,'This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(40917,'NCBI Gene PubMed Count',NULL,14769,NULL,NULL,NULL,26,NULL,NULL,NULL),(40918,'NCBI Gene PubMed Count',NULL,14774,NULL,NULL,NULL,12,NULL,NULL,NULL),(40919,'NCBI Gene PubMed Count',NULL,14780,NULL,NULL,NULL,2,NULL,NULL,NULL),(40920,'NCBI Gene PubMed Count',NULL,14781,NULL,NULL,NULL,16,NULL,NULL,NULL),(40921,'NCBI Gene Summary',NULL,14782,NULL,'This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. This protein has been detected as an autoantigen in hepatocellular carcinoma patients. This gene has been identified as a potential candidate for X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(40922,'NCBI Gene PubMed Count',NULL,14782,NULL,NULL,NULL,20,NULL,NULL,NULL),(40923,'NCBI Gene PubMed Count',NULL,14783,NULL,NULL,NULL,8,NULL,NULL,NULL),(40924,'NCBI Gene PubMed Count',NULL,14784,NULL,NULL,NULL,4,NULL,NULL,NULL),(40925,'NCBI Gene PubMed Count',NULL,14785,NULL,NULL,NULL,14,NULL,NULL,NULL),(40926,'NCBI Gene Summary',NULL,14786,NULL,'This gene on the X chromosome is structurally similar to a related gene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(40927,'NCBI Gene PubMed Count',NULL,14786,NULL,NULL,NULL,48,NULL,NULL,NULL),(40928,'NCBI Gene Summary',NULL,14787,NULL,'C2H2 zinc finger proteins, such as ZNF213, have bipartite structures in which one domain binds DNA or RNA and the other modulates target gene expression.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(40929,'NCBI Gene PubMed Count',NULL,14787,NULL,NULL,NULL,8,NULL,NULL,NULL),(40930,'NCBI Gene PubMed Count',NULL,14788,NULL,NULL,NULL,9,NULL,NULL,NULL),(40931,'NCBI Gene PubMed Count',NULL,14789,NULL,NULL,NULL,12,NULL,NULL,NULL),(40932,'NCBI Gene PubMed Count',NULL,14790,NULL,NULL,NULL,4,NULL,NULL,NULL),(40933,'NCBI Gene PubMed Count',NULL,14791,NULL,NULL,NULL,2,NULL,NULL,NULL),(40934,'NCBI Gene PubMed Count',NULL,14792,NULL,NULL,NULL,3,NULL,NULL,NULL),(40935,'NCBI Gene Summary',NULL,14793,NULL,'The encoded gene product presumably interacts with YY1 protein; however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40936,'NCBI Gene PubMed Count',NULL,14793,NULL,NULL,NULL,21,NULL,NULL,NULL),(40937,'NCBI Gene PubMed Count',NULL,14794,NULL,NULL,NULL,19,NULL,NULL,NULL),(40938,'NCBI Gene Summary',NULL,14795,NULL,'The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(40939,'NCBI Gene PubMed Count',NULL,14795,NULL,NULL,NULL,8,NULL,NULL,NULL),(40940,'NCBI Gene Summary',NULL,14796,NULL,'This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(40941,'NCBI Gene PubMed Count',NULL,14796,NULL,NULL,NULL,15,NULL,NULL,NULL),(40942,'NCBI Gene PubMed Count',NULL,14797,NULL,NULL,NULL,16,NULL,NULL,NULL),(40943,'NCBI Gene Summary',NULL,14798,NULL,'Zinc finger proteins (ZNFs), such as ZNF208, bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(40944,'NCBI Gene PubMed Count',NULL,14798,NULL,NULL,NULL,8,NULL,NULL,NULL),(40945,'NCBI Gene Summary',NULL,14799,NULL,'The protein encoded by this gene belongs to the Kruppel family of C2H2-type zinc finger proteins. It contains 31 C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(40946,'NCBI Gene PubMed Count',NULL,14799,NULL,NULL,NULL,10,NULL,NULL,NULL),(40947,'NCBI Gene PubMed Count',NULL,14800,NULL,NULL,NULL,11,NULL,NULL,NULL),(40948,'NCBI Gene PubMed Count',NULL,14801,NULL,NULL,NULL,11,NULL,NULL,NULL),(40949,'NCBI Gene Summary',NULL,14802,NULL,'This gene encodes a zinc finger domain containing protein. The function of this protein has yet to be determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(40950,'NCBI Gene PubMed Count',NULL,14802,NULL,NULL,NULL,8,NULL,NULL,NULL),(40951,'NCBI Gene PubMed Count',NULL,14803,NULL,NULL,NULL,12,NULL,NULL,NULL),(40952,'NCBI Gene PubMed Count',NULL,14804,NULL,NULL,NULL,10,NULL,NULL,NULL),(40953,'NCBI Gene Summary',NULL,14805,NULL,'This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40954,'NCBI Gene PubMed Count',NULL,14805,NULL,NULL,NULL,40,NULL,NULL,NULL),(40955,'NCBI Gene Summary',NULL,14806,NULL,'This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40956,'NCBI Gene PubMed Count',NULL,14806,NULL,NULL,NULL,18,NULL,NULL,NULL),(40957,'NCBI Gene PubMed Count',NULL,14807,NULL,NULL,NULL,9,NULL,NULL,NULL),(40958,'NCBI Gene PubMed Count',NULL,14808,NULL,NULL,NULL,2,NULL,NULL,NULL),(40959,'NCBI Gene PubMed Count',NULL,14809,NULL,NULL,NULL,4,NULL,NULL,NULL),(40960,'NCBI Gene PubMed Count',NULL,14810,NULL,NULL,NULL,8,NULL,NULL,NULL),(40961,'NCBI Gene PubMed Count',NULL,14811,NULL,NULL,NULL,6,NULL,NULL,NULL),(40962,'NCBI Gene PubMed Count',NULL,14812,NULL,NULL,NULL,6,NULL,NULL,NULL),(40963,'NCBI Gene PubMed Count',NULL,14813,NULL,NULL,NULL,7,NULL,NULL,NULL),(40964,'NCBI Gene PubMed Count',NULL,14814,NULL,NULL,NULL,6,NULL,NULL,NULL),(40965,'NCBI Gene PubMed Count',NULL,14815,NULL,NULL,NULL,6,NULL,NULL,NULL),(40966,'NCBI Gene Summary',NULL,14816,NULL,'Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a LIM-domain zinc finger protein. The LIM domain is composed of two contiguous zinc finger domains, separated by a two-amino acid residue hydrophobic linker. The LIM domain mediates protein:protein interactions. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(40967,'NCBI Gene PubMed Count',NULL,14816,NULL,NULL,NULL,10,NULL,NULL,NULL),(40968,'NCBI Gene PubMed Count',NULL,14817,NULL,NULL,NULL,5,NULL,NULL,NULL),(40969,'NCBI Gene PubMed Count',NULL,14818,NULL,NULL,NULL,8,NULL,NULL,NULL),(40970,'NCBI Gene PubMed Count',NULL,14819,NULL,NULL,NULL,21,NULL,NULL,NULL),(40971,'NCBI Gene Summary',NULL,14820,NULL,'This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with cognitive disability. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(40972,'NCBI Gene PubMed Count',NULL,14820,NULL,NULL,NULL,15,NULL,NULL,NULL),(40973,'NCBI Gene PubMed Count',NULL,14821,NULL,NULL,NULL,6,NULL,NULL,NULL),(40974,'NCBI Gene PubMed Count',NULL,14822,NULL,NULL,NULL,3,NULL,NULL,NULL),(40975,'NCBI Gene PubMed Count',NULL,14823,NULL,NULL,NULL,13,NULL,NULL,NULL),(40976,'NCBI Gene Summary',NULL,14824,NULL,'This gene encodes a protein belonging to the Cys2His2 zinc finger protein family, whose members function as transcription factors that can regulate a broad variety of developmental and cellular processes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(40977,'NCBI Gene PubMed Count',NULL,14824,NULL,NULL,NULL,6,NULL,NULL,NULL),(40978,'NCBI Gene PubMed Count',NULL,14825,NULL,NULL,NULL,6,NULL,NULL,NULL),(40979,'NCBI Gene PubMed Count',NULL,14826,NULL,NULL,NULL,2,NULL,NULL,NULL),(40980,'NCBI Gene Summary',NULL,14827,NULL,'This gene encodes a zinc finger protein containing a KRAB (Kruppel-associated box) domain found in transcriptional repressors. This gene may be methylated and silenced in cancer cells. This gene is located within a differentially methylated region (DMR) and shows allele-specific expression in placenta. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding the same protein. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(40981,'NCBI Gene PubMed Count',NULL,14827,NULL,NULL,NULL,22,NULL,NULL,NULL),(40982,'NCBI Gene PubMed Count',NULL,14828,NULL,NULL,NULL,8,NULL,NULL,NULL),(40983,'NCBI Gene PubMed Count',NULL,14829,NULL,NULL,NULL,6,NULL,NULL,NULL),(40984,'NCBI Gene PubMed Count',NULL,14830,NULL,NULL,NULL,2,NULL,NULL,NULL),(40985,'NCBI Gene PubMed Count',NULL,14831,NULL,NULL,NULL,4,NULL,NULL,NULL),(40986,'NCBI Gene PubMed Count',NULL,14832,NULL,NULL,NULL,5,NULL,NULL,NULL),(40987,'NCBI Gene PubMed Count',NULL,14833,NULL,NULL,NULL,3,NULL,NULL,NULL),(40988,'NCBI Gene PubMed Count',NULL,14834,NULL,NULL,NULL,6,NULL,NULL,NULL),(40989,'NCBI Gene PubMed Count',NULL,14835,NULL,NULL,NULL,18,NULL,NULL,NULL),(40990,'NCBI Gene PubMed Count',NULL,14836,NULL,NULL,NULL,3,NULL,NULL,NULL),(40991,'NCBI Gene PubMed Count',NULL,14837,NULL,NULL,NULL,1,NULL,NULL,NULL),(40992,'NCBI Gene PubMed Count',NULL,14838,NULL,NULL,NULL,10,NULL,NULL,NULL),(40993,'NCBI Gene PubMed Count',NULL,14839,NULL,NULL,NULL,14,NULL,NULL,NULL),(40994,'NCBI Gene PubMed Count',NULL,14840,NULL,NULL,NULL,1,NULL,NULL,NULL),(40995,'NCBI Gene PubMed Count',NULL,14841,NULL,NULL,NULL,7,NULL,NULL,NULL),(40996,'NCBI Gene PubMed Count',NULL,14842,NULL,NULL,NULL,14,NULL,NULL,NULL),(40997,'NCBI Gene PubMed Count',NULL,14843,NULL,NULL,NULL,13,NULL,NULL,NULL),(40998,'NCBI Gene Summary',NULL,14844,NULL,'This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(40999,'NCBI Gene PubMed Count',NULL,14844,NULL,NULL,NULL,19,NULL,NULL,NULL),(41000,'NCBI Gene Summary',NULL,14845,NULL,'Focal adhesions are actin-rich structures that enable cells to adhere to the extracellular matrix and at which protein complexes involved in signal transduction assemble. Zyxin is a zinc-binding phosphoprotein that concentrates at focal adhesions and along the actin cytoskeleton. Zyxin has an N-terminal proline-rich domain and three LIM domains in its C-terminal half. The proline-rich domain may interact with SH3 domains of proteins involved in signal transduction pathways while the LIM domains are likely involved in protein-protein binding. Zyxin may function as a messenger in the signal transduction pathway that mediates adhesion-stimulated changes in gene expression and may modulate the cytoskeletal organization of actin bundles. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41001,'NCBI Gene PubMed Count',NULL,14845,NULL,NULL,NULL,70,NULL,NULL,NULL),(41002,'NCBI Gene Summary',NULL,14846,NULL,'Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(41003,'NCBI Gene PubMed Count',NULL,14846,NULL,NULL,NULL,14,NULL,NULL,NULL),(41004,'NCBI Gene PubMed Count',NULL,14847,NULL,NULL,NULL,12,NULL,NULL,NULL),(41005,'NCBI Gene PubMed Count',NULL,14848,NULL,NULL,NULL,12,NULL,NULL,NULL),(41006,'NCBI Gene PubMed Count',NULL,14849,NULL,NULL,NULL,5,NULL,NULL,NULL),(41007,'NCBI Gene PubMed Count',NULL,14850,NULL,NULL,NULL,9,NULL,NULL,NULL),(41008,'NCBI Gene PubMed Count',NULL,14851,NULL,NULL,NULL,4,NULL,NULL,NULL),(41009,'NCBI Gene Summary',NULL,14852,NULL,'ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(41010,'NCBI Gene PubMed Count',NULL,14852,NULL,NULL,NULL,70,NULL,NULL,NULL),(41011,'NCBI Gene PubMed Count',NULL,14853,NULL,NULL,NULL,9,NULL,NULL,NULL),(41012,'NCBI Gene Summary',NULL,14854,NULL,'This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gene may be associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(41013,'NCBI Gene PubMed Count',NULL,14854,NULL,NULL,NULL,16,NULL,NULL,NULL),(41014,'NCBI Gene PubMed Count',NULL,14855,NULL,NULL,NULL,15,NULL,NULL,NULL),(41015,'NCBI Gene Summary',NULL,14856,NULL,'This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) A-box domain at its N-terminus, followed by fourteen contiguous C2H2 zinc finger domains and a degenerate zinc finger. The KRAB A-box showed weak transcriptional repressor activity in a reporter gene assay. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(41016,'NCBI Gene PubMed Count',NULL,14856,NULL,NULL,NULL,13,NULL,NULL,NULL),(41017,'NCBI Gene PubMed Count',NULL,14857,NULL,NULL,NULL,7,NULL,NULL,NULL),(41018,'NCBI Gene Summary',NULL,14858,NULL,'The protein encoded by this gene belongs to a family of CCCH-type zinc finger proteins that are involved in the proinflammatory activation of macrophages. The exact function of this family member is unknown, but it is thought to function as a ribonuclease. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(41019,'NCBI Gene PubMed Count',NULL,14858,NULL,NULL,NULL,7,NULL,NULL,NULL),(41020,'NCBI Gene PubMed Count',NULL,14859,NULL,NULL,NULL,5,NULL,NULL,NULL),(41021,'NCBI Gene Summary',NULL,14860,NULL,'This gene encodes a member of the zinc finger protein family that modulates gene expression. The encoded protein derepresses the transcription of certain fetal cardiac genes and may contribute to the genetic reprogramming that occurs during the development of heart failure. Genome wide association studies have identified this gene among ulcerative colitis risk loci. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(41022,'NCBI Gene PubMed Count',NULL,14860,NULL,NULL,NULL,15,NULL,NULL,NULL),(41023,'NCBI Gene PubMed Count',NULL,14861,NULL,NULL,NULL,11,NULL,NULL,NULL),(41024,'NCBI Gene Summary',NULL,14862,NULL,'This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41025,'NCBI Gene PubMed Count',NULL,14862,NULL,NULL,NULL,8,NULL,NULL,NULL),(41026,'NCBI Gene PubMed Count',NULL,14863,NULL,NULL,NULL,3,NULL,NULL,NULL),(41027,'NCBI Gene PubMed Count',NULL,14864,NULL,NULL,NULL,7,NULL,NULL,NULL),(41028,'NCBI Gene PubMed Count',NULL,14865,NULL,NULL,NULL,11,NULL,NULL,NULL),(41029,'NCBI Gene Summary',NULL,14866,NULL,'The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41030,'NCBI Gene PubMed Count',NULL,14866,NULL,NULL,NULL,23,NULL,NULL,NULL),(41031,'NCBI Gene PubMed Count',NULL,14867,NULL,NULL,NULL,11,NULL,NULL,NULL),(41032,'NCBI Gene PubMed Count',NULL,14868,NULL,NULL,NULL,3,NULL,NULL,NULL),(41033,'NCBI Gene Summary',NULL,14869,NULL,'The protein encoded by this gene belongs to the C2H2-type zinc-finger protein family. The exact function of this gene is not known, however, zinc-finger proteins are known to interact with DNA and function as transcription regulators. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(41034,'NCBI Gene PubMed Count',NULL,14869,NULL,NULL,NULL,10,NULL,NULL,NULL),(41035,'NCBI Gene PubMed Count',NULL,14870,NULL,NULL,NULL,4,NULL,NULL,NULL),(41036,'NCBI Gene PubMed Count',NULL,14871,NULL,NULL,NULL,5,NULL,NULL,NULL),(41037,'NCBI Gene PubMed Count',NULL,14872,NULL,NULL,NULL,8,NULL,NULL,NULL),(41038,'NCBI Gene PubMed Count',NULL,14873,NULL,NULL,NULL,1,NULL,NULL,NULL),(41039,'NCBI Gene Summary',NULL,14874,NULL,'This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing\'s sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(41040,'NCBI Gene PubMed Count',NULL,14874,NULL,NULL,NULL,23,NULL,NULL,NULL),(41041,'NCBI Gene PubMed Count',NULL,14875,NULL,NULL,NULL,20,NULL,NULL,NULL),(41042,'NCBI Gene PubMed Count',NULL,14876,NULL,NULL,NULL,5,NULL,NULL,NULL),(41043,'NCBI Gene PubMed Count',NULL,14877,NULL,NULL,NULL,4,NULL,NULL,NULL),(41044,'NCBI Gene PubMed Count',NULL,14878,NULL,NULL,NULL,3,NULL,NULL,NULL),(41045,'NCBI Gene PubMed Count',NULL,14879,NULL,NULL,NULL,4,NULL,NULL,NULL),(41046,'NCBI Gene PubMed Count',NULL,14880,NULL,NULL,NULL,7,NULL,NULL,NULL),(41047,'NCBI Gene PubMed Count',NULL,14881,NULL,NULL,NULL,4,NULL,NULL,NULL),(41048,'NCBI Gene PubMed Count',NULL,14882,NULL,NULL,NULL,4,NULL,NULL,NULL),(41049,'NCBI Gene PubMed Count',NULL,14883,NULL,NULL,NULL,13,NULL,NULL,NULL),(41050,'NCBI Gene PubMed Count',NULL,14884,NULL,NULL,NULL,13,NULL,NULL,NULL),(41051,'NCBI Gene PubMed Count',NULL,14885,NULL,NULL,NULL,6,NULL,NULL,NULL),(41052,'NCBI Gene PubMed Count',NULL,14886,NULL,NULL,NULL,34,NULL,NULL,NULL),(41053,'NCBI Gene PubMed Count',NULL,14887,NULL,NULL,NULL,8,NULL,NULL,NULL),(41054,'NCBI Gene PubMed Count',NULL,14888,NULL,NULL,NULL,4,NULL,NULL,NULL),(41055,'NCBI Gene PubMed Count',NULL,14889,NULL,NULL,NULL,10,NULL,NULL,NULL),(41056,'NCBI Gene PubMed Count',NULL,14890,NULL,NULL,NULL,4,NULL,NULL,NULL),(41057,'NCBI Gene Summary',NULL,14891,NULL,'This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41058,'NCBI Gene PubMed Count',NULL,14891,NULL,NULL,NULL,10,NULL,NULL,NULL),(41059,'NCBI Gene PubMed Count',NULL,14892,NULL,NULL,NULL,5,NULL,NULL,NULL),(41060,'NCBI Gene PubMed Count',NULL,14893,NULL,NULL,NULL,5,NULL,NULL,NULL),(41061,'NCBI Gene PubMed Count',NULL,14894,NULL,NULL,NULL,7,NULL,NULL,NULL),(41062,'NCBI Gene PubMed Count',NULL,14895,NULL,NULL,NULL,4,NULL,NULL,NULL),(41063,'NCBI Gene Summary',NULL,14896,NULL,'The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(41064,'NCBI Gene PubMed Count',NULL,14896,NULL,NULL,NULL,43,NULL,NULL,NULL),(41065,'NCBI Gene PubMed Count',NULL,14897,NULL,NULL,NULL,4,NULL,NULL,NULL),(41066,'NCBI Gene Summary',NULL,14898,NULL,'This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(41067,'NCBI Gene PubMed Count',NULL,14898,NULL,NULL,NULL,77,NULL,NULL,NULL),(41068,'NCBI Gene Summary',NULL,14899,NULL,'The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(41069,'NCBI Gene PubMed Count',NULL,14899,NULL,NULL,NULL,10,NULL,NULL,NULL),(41070,'NCBI Gene PubMed Count',NULL,14900,NULL,NULL,NULL,6,NULL,NULL,NULL),(41071,'NCBI Gene PubMed Count',NULL,14901,NULL,NULL,NULL,6,NULL,NULL,NULL),(41072,'NCBI Gene PubMed Count',NULL,14903,NULL,NULL,NULL,14,NULL,NULL,NULL),(41073,'NCBI Gene Summary',NULL,14904,NULL,'This gene encodes a protein that functions in the species specificity of sperm adhesion to the egg zona pellucida. The encoded protein is located in the acrosome and may be involved in signaling or gamete recognition. An allelic polymorphism in this gene results in both functional and frameshifted alleles; the reference genome represents the functional allele. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(41074,'NCBI Gene PubMed Count',NULL,14904,NULL,NULL,NULL,16,NULL,NULL,NULL),(41075,'NCBI Gene PubMed Count',NULL,14905,NULL,NULL,NULL,6,NULL,NULL,NULL),(41076,'NCBI Gene PubMed Count',NULL,14906,NULL,NULL,NULL,5,NULL,NULL,NULL),(41077,'NCBI Gene PubMed Count',NULL,14907,NULL,NULL,NULL,8,NULL,NULL,NULL),(41078,'NCBI Gene PubMed Count',NULL,14908,NULL,NULL,NULL,15,NULL,NULL,NULL),(41079,'NCBI Gene PubMed Count',NULL,14909,NULL,NULL,NULL,11,NULL,NULL,NULL),(41080,'NCBI Gene Summary',NULL,14910,NULL,'This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(41081,'NCBI Gene PubMed Count',NULL,14910,NULL,NULL,NULL,16,NULL,NULL,NULL),(41082,'NCBI Gene PubMed Count',NULL,14911,NULL,NULL,NULL,6,NULL,NULL,NULL),(41083,'NCBI Gene PubMed Count',NULL,14912,NULL,NULL,NULL,0,NULL,NULL,NULL),(41084,'NCBI Gene PubMed Count',NULL,14913,NULL,NULL,NULL,47,NULL,NULL,NULL),(41085,'NCBI Gene PubMed Count',NULL,14914,NULL,NULL,NULL,2,NULL,NULL,NULL),(41086,'NCBI Gene Summary',NULL,14915,NULL,'The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41087,'NCBI Gene PubMed Count',NULL,14915,NULL,NULL,NULL,33,NULL,NULL,NULL),(41088,'NCBI Gene PubMed Count',NULL,14916,NULL,NULL,NULL,9,NULL,NULL,NULL),(41089,'NCBI Gene Summary',NULL,14917,NULL,'This gene encodes a protein containing a Kruppel-associated box domain and multiple zinc finger domains. The function of this protein has yet to be determined. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(41090,'NCBI Gene PubMed Count',NULL,14917,NULL,NULL,NULL,6,NULL,NULL,NULL),(41091,'NCBI Gene PubMed Count',NULL,14918,NULL,NULL,NULL,6,NULL,NULL,NULL),(41092,'NCBI Gene PubMed Count',NULL,14919,NULL,NULL,NULL,6,NULL,NULL,NULL),(41093,'NCBI Gene PubMed Count',NULL,14920,NULL,NULL,NULL,10,NULL,NULL,NULL),(41094,'NCBI Gene PubMed Count',NULL,14921,NULL,NULL,NULL,3,NULL,NULL,NULL),(41095,'NCBI Gene PubMed Count',NULL,14922,NULL,NULL,NULL,2,NULL,NULL,NULL),(41096,'NCBI Gene PubMed Count',NULL,14923,NULL,NULL,NULL,10,NULL,NULL,NULL),(41097,'NCBI Gene PubMed Count',NULL,14924,NULL,NULL,NULL,3,NULL,NULL,NULL),(41098,'NCBI Gene PubMed Count',NULL,14925,NULL,NULL,NULL,8,NULL,NULL,NULL),(41099,'NCBI Gene PubMed Count',NULL,14926,NULL,NULL,NULL,12,NULL,NULL,NULL),(41100,'NCBI Gene Summary',NULL,14927,NULL,'This gene encodes a member of the Kruppel-like zinc finger family of proteins. Amplification and overexpression of this gene have been observed in esophageal squamous cell carcinoma. The encoded protein has been shown to bind DNA in a sequence-specific manner and may regulate HIV-1 gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(41101,'NCBI Gene PubMed Count',NULL,14927,NULL,NULL,NULL,14,NULL,NULL,NULL),(41102,'NCBI Gene PubMed Count',NULL,14928,NULL,NULL,NULL,6,NULL,NULL,NULL),(41103,'NCBI Gene PubMed Count',NULL,14929,NULL,NULL,NULL,8,NULL,NULL,NULL),(41104,'NCBI Gene Summary',NULL,14930,NULL,'This gene encodes a protein belonging to the Krueppel C2H2-type zinc-finger protein family. These family members are transcription factors that are implicated in a variety of cellular processes. This gene is located near the centromeric border of chromosome 11p15.5, next to an imprinted domain that is associated with maternal-specific loss of heterozygosity in Wilms\' tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(41105,'NCBI Gene PubMed Count',NULL,14930,NULL,NULL,NULL,9,NULL,NULL,NULL),(41106,'NCBI Gene PubMed Count',NULL,14931,NULL,NULL,NULL,6,NULL,NULL,NULL),(41107,'NCBI Gene PubMed Count',NULL,14932,NULL,NULL,NULL,2,NULL,NULL,NULL),(41108,'NCBI Gene PubMed Count',NULL,14933,NULL,NULL,NULL,11,NULL,NULL,NULL),(41109,'NCBI Gene Summary',NULL,14934,NULL,'The protein encoded by this gene is a KRAB-related zinc finger protein that inhibits the transcription of some MAPK signaling pathway genes. The repressor activity resides in the KRAB domain of the encoded protein. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(41110,'NCBI Gene PubMed Count',NULL,14934,NULL,NULL,NULL,3,NULL,NULL,NULL),(41111,'NCBI Gene PubMed Count',NULL,14935,NULL,NULL,NULL,8,NULL,NULL,NULL),(41112,'NCBI Gene Summary',NULL,14936,NULL,'The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed of three glycoproteins with various functions during fertilization and preimplantation development. The glycosylated mature peptide is one of the structural components of the zona pellucida and functions in secondary binding and penetration of acrosome-reacted spermatozoa. Female mice lacking this gene do not form a stable zona matrix and are sterile. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(41113,'NCBI Gene PubMed Count',NULL,14936,NULL,NULL,NULL,28,NULL,NULL,NULL),(41114,'NCBI Gene PubMed Count',NULL,14937,NULL,NULL,NULL,8,NULL,NULL,NULL),(41115,'NCBI Gene PubMed Count',NULL,14938,NULL,NULL,NULL,5,NULL,NULL,NULL),(41116,'NCBI Gene PubMed Count',NULL,14939,NULL,NULL,NULL,4,NULL,NULL,NULL),(41117,'NCBI Gene Summary',NULL,14940,NULL,'This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41118,'NCBI Gene PubMed Count',NULL,14940,NULL,NULL,NULL,15,NULL,NULL,NULL),(41119,'NCBI Gene PubMed Count',NULL,14941,NULL,NULL,NULL,15,NULL,NULL,NULL),(41120,'NCBI Gene PubMed Count',NULL,14942,NULL,NULL,NULL,6,NULL,NULL,NULL),(41121,'NCBI Gene PubMed Count',NULL,14943,NULL,NULL,NULL,5,NULL,NULL,NULL),(41122,'NCBI Gene PubMed Count',NULL,14944,NULL,NULL,NULL,6,NULL,NULL,NULL),(41123,'NCBI Gene PubMed Count',NULL,14945,NULL,NULL,NULL,5,NULL,NULL,NULL),(41124,'NCBI Gene PubMed Count',NULL,14946,NULL,NULL,NULL,1,NULL,NULL,NULL),(41125,'NCBI Gene PubMed Count',NULL,14947,NULL,NULL,NULL,9,NULL,NULL,NULL),(41126,'NCBI Gene PubMed Count',NULL,14948,NULL,NULL,NULL,4,NULL,NULL,NULL),(41127,'NCBI Gene Summary',NULL,14949,NULL,'The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. Previously, this gene has been referred to as ZP1 or ZPB and thought to have similar functions as mouse Zp1. However, a human gene with higher similarity and chromosomal synteny to mouse Zp1 has been assigned the symbol ZP1 and this gene has been assigned the symbol ZP4. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41128,'NCBI Gene PubMed Count',NULL,14949,NULL,NULL,NULL,29,NULL,NULL,NULL),(41129,'NCBI Gene PubMed Count',NULL,14950,NULL,NULL,NULL,5,NULL,NULL,NULL),(41130,'NCBI Gene Summary',NULL,14951,NULL,'The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(41131,'NCBI Gene PubMed Count',NULL,14951,NULL,NULL,NULL,21,NULL,NULL,NULL),(41132,'NCBI Gene PubMed Count',NULL,14952,NULL,NULL,NULL,6,NULL,NULL,NULL),(41133,'NCBI Gene PubMed Count',NULL,14953,NULL,NULL,NULL,3,NULL,NULL,NULL),(41134,'NCBI Gene PubMed Count',NULL,14957,NULL,NULL,NULL,3,NULL,NULL,NULL),(41135,'NCBI Gene PubMed Count',NULL,14958,NULL,NULL,NULL,7,NULL,NULL,NULL),(41136,'NCBI Gene Summary',NULL,14959,NULL,'This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(41137,'NCBI Gene PubMed Count',NULL,14959,NULL,NULL,NULL,25,NULL,NULL,NULL),(41138,'NCBI Gene Summary',NULL,14960,NULL,'The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(41139,'NCBI Gene PubMed Count',NULL,14960,NULL,NULL,NULL,9,NULL,NULL,NULL),(41140,'NCBI Gene Summary',NULL,14961,NULL,'This gene encodes a scaffold protein which serves as an assessory factor to the nuclear RNA exosome complex. The encoded protein forms a trimeric human nuclear exosome targeting (NEXT) complex, together with hMTR4 and the RNA-binding factor RBM7 which promotes the exosomal degradation of non-coding promoter-upstream transcripts, enhancer RNAs and 3\'-extended products of histone- and small nuclear RNA transcription. This complex is also thought to recruit the exosome to degrade intronic RNAs via its interaction with both the exosome and the spliceosome. It contains both an N-terminal zinc-knuckle domain and a C-terminal proline-rich domain. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(41141,'NCBI Gene PubMed Count',NULL,14961,NULL,NULL,NULL,17,NULL,NULL,NULL),(41142,'NCBI Gene PubMed Count',NULL,14962,NULL,NULL,NULL,5,NULL,NULL,NULL),(41143,'NCBI Gene Summary',NULL,14963,NULL,'This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(41144,'NCBI Gene PubMed Count',NULL,14963,NULL,NULL,NULL,374,NULL,NULL,NULL),(41145,'NCBI Gene PubMed Count',NULL,14964,NULL,NULL,NULL,8,NULL,NULL,NULL),(41146,'NCBI Gene PubMed Count',NULL,14965,NULL,NULL,NULL,12,NULL,NULL,NULL),(41147,'NCBI Gene PubMed Count',NULL,14966,NULL,NULL,NULL,3,NULL,NULL,NULL),(41148,'NCBI Gene PubMed Count',NULL,14967,NULL,NULL,NULL,8,NULL,NULL,NULL),(41149,'NCBI Gene PubMed Count',NULL,14968,NULL,NULL,NULL,8,NULL,NULL,NULL),(41150,'NCBI Gene Summary',NULL,14969,NULL,'The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41151,'NCBI Gene PubMed Count',NULL,14969,NULL,NULL,NULL,33,NULL,NULL,NULL),(41152,'NCBI Gene PubMed Count',NULL,14970,NULL,NULL,NULL,7,NULL,NULL,NULL),(41153,'NCBI Gene PubMed Count',NULL,14971,NULL,NULL,NULL,9,NULL,NULL,NULL),(41154,'NCBI Gene Summary',NULL,14972,NULL,'The protein encoded by this gene is a member of the zinc finger family of proteins. The gene product contains C2H2-type domains, which are the classical zinc finger domains found in numerous nucleic acid-binding proteins. This protein functions as a regulator of the non-canonical NF-kappaB pathway in lymphotoxin-beta receptor signaling. Alternative splicing results in multiple transcript variants. A read-through transcript variant composed of ZFP91 and the downstream CNTF gene sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. A ZFP91-related pseudogene has also been identified on chromosome 2. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(41155,'NCBI Gene PubMed Count',NULL,14972,NULL,NULL,NULL,22,NULL,NULL,NULL),(41156,'NCBI Gene PubMed Count',NULL,14973,NULL,NULL,NULL,6,NULL,NULL,NULL),(41157,'NCBI Gene PubMed Count',NULL,14974,NULL,NULL,NULL,8,NULL,NULL,NULL),(41158,'NCBI Gene PubMed Count',NULL,14975,NULL,NULL,NULL,4,NULL,NULL,NULL),(41159,'NCBI Gene Summary',NULL,14976,NULL,'This gene encodes a growth hormone-dependent, zinc finger transcription factor that functions as a tumor suppressor. Naturally occurring mutations in this gene are associated with gastric cancer, colorectal cancer, and chronic lymphocytic leukemia. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(41160,'NCBI Gene PubMed Count',NULL,14976,NULL,NULL,NULL,11,NULL,NULL,NULL),(41161,'NCBI Gene Summary',NULL,14977,NULL,'The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(41162,'NCBI Gene PubMed Count',NULL,14977,NULL,NULL,NULL,30,NULL,NULL,NULL),(41163,'NCBI Gene Summary',NULL,14978,NULL,'Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(41164,'NCBI Gene PubMed Count',NULL,14978,NULL,NULL,NULL,11,NULL,NULL,NULL),(41165,'NCBI Gene PubMed Count',NULL,14979,NULL,NULL,NULL,15,NULL,NULL,NULL),(41166,'NCBI Gene PubMed Count',NULL,14980,NULL,NULL,NULL,3,NULL,NULL,NULL),(41167,'NCBI Gene PubMed Count',NULL,14981,NULL,NULL,NULL,9,NULL,NULL,NULL),(41168,'NCBI Gene Summary',NULL,14982,NULL,'The protein encoded by this gene contains C2H2 zinc finger domains. In some individuals, a CGG-repeat expansion from 5-22 repeats to 68-450 repeats has been identified in the first intron of this gene. This mutation is thought to effect the expression of this gene and it has been proposed that it may be associated with Autistic Spectrum Disorder. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(41169,'NCBI Gene PubMed Count',NULL,14982,NULL,NULL,NULL,6,NULL,NULL,NULL),(41170,'NCBI Gene PubMed Count',NULL,14983,NULL,NULL,NULL,9,NULL,NULL,NULL),(41171,'NCBI Gene PubMed Count',NULL,14984,NULL,NULL,NULL,4,NULL,NULL,NULL),(41172,'NCBI Gene PubMed Count',NULL,14985,NULL,NULL,NULL,4,NULL,NULL,NULL),(41173,'NCBI Gene PubMed Count',NULL,14986,NULL,NULL,NULL,3,NULL,NULL,NULL),(41174,'NCBI Gene Summary',NULL,14987,NULL,'This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(41175,'NCBI Gene PubMed Count',NULL,14987,NULL,NULL,NULL,20,NULL,NULL,NULL),(41176,'NCBI Gene Summary',NULL,14988,NULL,'This gene encodes a protein with multiple zinc finger domains. Loss of the related gene in rodents results in defects in neural development and embryonic lethality in mutant homozygotes. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and maternally expressed. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(41177,'NCBI Gene PubMed Count',NULL,14988,NULL,NULL,NULL,9,NULL,NULL,NULL),(41178,'NCBI Gene PubMed Count',NULL,14989,NULL,NULL,NULL,0,NULL,NULL,NULL),(41179,'NCBI Gene Summary',NULL,14990,NULL,'The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(41180,'NCBI Gene PubMed Count',NULL,14990,NULL,NULL,NULL,208,NULL,NULL,NULL),(41181,'NCBI Gene PubMed Count',NULL,14991,NULL,NULL,NULL,8,NULL,NULL,NULL),(41182,'NCBI Gene PubMed Count',NULL,14992,NULL,NULL,NULL,3,NULL,NULL,NULL),(41183,'NCBI Gene PubMed Count',NULL,14993,NULL,NULL,NULL,6,NULL,NULL,NULL),(41184,'NCBI Gene PubMed Count',NULL,14994,NULL,NULL,NULL,17,NULL,NULL,NULL),(41185,'NCBI Gene Summary',NULL,14995,NULL,'This gene encodes a protein with a N-terminal SCAN domain, and the longer isoform contains nine C2H2-type zinc finger repeats in the C-terminal domain. The protein localizes to centromeres during interphase and early prophase, and different isoforms can repress or activate transcription in transfection studies. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(41186,'NCBI Gene PubMed Count',NULL,14995,NULL,NULL,NULL,9,NULL,NULL,NULL),(41187,'NCBI Gene PubMed Count',NULL,14996,NULL,NULL,NULL,2,NULL,NULL,NULL),(41188,'NCBI Gene PubMed Count',NULL,14997,NULL,NULL,NULL,6,NULL,NULL,NULL),(41189,'NCBI Gene PubMed Count',NULL,14998,NULL,NULL,NULL,2,NULL,NULL,NULL),(41190,'NCBI Gene PubMed Count',NULL,14999,NULL,NULL,NULL,2,NULL,NULL,NULL),(41191,'NCBI Gene PubMed Count',NULL,15000,NULL,NULL,NULL,3,NULL,NULL,NULL),(41192,'NCBI Gene Summary',NULL,15001,NULL,'This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41193,'NCBI Gene PubMed Count',NULL,15001,NULL,NULL,NULL,284,NULL,NULL,NULL),(41194,'NCBI Gene Summary',NULL,15002,NULL,'This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It was earlier identified as a gene with similarity to Ac transposable elements, however, was found not to have transposase activity. Later studies show that this gene product is localized in the nucleus and functions as a transcription factor. It binds to DNA elements found in the promoter regions of several genes related to cell proliferation, such as histone H1, hence may have a role in regulating genes related to cell proliferation. Alternatively spliced transcript variants with different 5\' untranslated region have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(41195,'NCBI Gene PubMed Count',NULL,15002,NULL,NULL,NULL,21,NULL,NULL,NULL),(41196,'NCBI Gene Summary',NULL,15003,NULL,'This gene encodes a member of the ZAR1 family that is predominantly expressed in oocytes and early embryos. The protein may function as an RNA regulator in early embryos. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(41197,'NCBI Gene PubMed Count',NULL,15003,NULL,NULL,NULL,6,NULL,NULL,NULL),(41198,'NCBI Gene PubMed Count',NULL,15004,NULL,NULL,NULL,14,NULL,NULL,NULL),(41199,'NCBI Gene Summary',NULL,15005,NULL,'This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(41200,'NCBI Gene PubMed Count',NULL,15005,NULL,NULL,NULL,32,NULL,NULL,NULL),(41201,'NCBI Gene PubMed Count',NULL,15006,NULL,NULL,NULL,16,NULL,NULL,NULL),(41202,'NCBI Gene PubMed Count',NULL,15007,NULL,NULL,NULL,28,NULL,NULL,NULL),(41203,'NCBI Gene PubMed Count',NULL,15008,NULL,NULL,NULL,8,NULL,NULL,NULL),(41204,'NCBI Gene PubMed Count',NULL,15009,NULL,NULL,NULL,4,NULL,NULL,NULL),(41205,'NCBI Gene PubMed Count',NULL,15010,NULL,NULL,NULL,19,NULL,NULL,NULL),(41206,'NCBI Gene Summary',NULL,15011,NULL,'This locus represents naturally occurring read-through transcription between the neighboring zinc fingers and homeoboxes 1 (ZHX1) and chromosome 8 open reading frame 76 (C8orf76) genes. The read-through transcript encodes a protein that shares sequence identity with the downstream gene, but it has a distinct N-terminus encoded by exon structure from the upstream gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(41207,'NCBI Gene PubMed Count',NULL,15011,NULL,NULL,NULL,3,NULL,NULL,NULL),(41208,'NCBI Gene Summary',NULL,15012,NULL,'This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain and may be involved in transcriptional regulation. A similar protein in mouse is differentially expressed in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(41209,'NCBI Gene PubMed Count',NULL,15012,NULL,NULL,NULL,13,NULL,NULL,NULL),(41210,'NCBI Gene PubMed Count',NULL,15013,NULL,NULL,NULL,3,NULL,NULL,NULL),(41211,'NCBI Gene Summary',NULL,15014,NULL,'This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(41212,'NCBI Gene PubMed Count',NULL,15014,NULL,NULL,NULL,36,NULL,NULL,NULL),(41213,'NCBI Gene Summary',NULL,15015,NULL,'This gene encodes a member of the Kruppel family of zinc finger proteins. Members of this DNA-binding protein family act as transcriptional regulators. This gene is located within a cluster of zinc finger family members. The encoded protein may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41214,'NCBI Gene PubMed Count',NULL,15015,NULL,NULL,NULL,12,NULL,NULL,NULL),(41215,'NCBI Gene PubMed Count',NULL,15016,NULL,NULL,NULL,4,NULL,NULL,NULL),(41216,'NCBI Gene Summary',NULL,15017,NULL,'This gene encodes a protein with three Cys2-His2-type zinc fingers in the carboxy-terminus, a putative nuclear localization signal, and an amino-terminus SCAN box which forms homodimers. This protein is believed to function as a transcriptional repressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(41217,'NCBI Gene PubMed Count',NULL,15017,NULL,NULL,NULL,13,NULL,NULL,NULL),(41218,'NCBI Gene PubMed Count',NULL,15018,NULL,NULL,NULL,6,NULL,NULL,NULL),(41219,'NCBI Gene PubMed Count',NULL,15019,NULL,NULL,NULL,6,NULL,NULL,NULL),(41220,'NCBI Gene Summary',NULL,15020,NULL,'This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(41221,'NCBI Gene PubMed Count',NULL,15020,NULL,NULL,NULL,4,NULL,NULL,NULL),(41222,'NCBI Gene Summary',NULL,15021,NULL,'This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(41223,'NCBI Gene PubMed Count',NULL,15021,NULL,NULL,NULL,44,NULL,NULL,NULL),(41224,'NCBI Gene PubMed Count',NULL,15022,NULL,NULL,NULL,4,NULL,NULL,NULL),(41225,'NCBI Gene Summary',NULL,15023,NULL,'ZNF320 encodes a Kruppel-like zinc finger protein. Members of this protein family are involved in activation or repression of transcription.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(41226,'NCBI Gene PubMed Count',NULL,15023,NULL,NULL,NULL,7,NULL,NULL,NULL),(41227,'NCBI Gene PubMed Count',NULL,15024,NULL,NULL,NULL,6,NULL,NULL,NULL),(41228,'NCBI Gene Summary',NULL,15025,NULL,'This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein contains 20 tandemly arrayed C2H2-type zinc fingers, a Kruppel-associated box (KRAB) domain, and a SCAN box. This transcript turns over rapidly and contains 3\' UTR AUUUA motifs, which are often a hallmark of rapid turnover. It is overexpressed in some thyroid papillary carcinomas. This gene is located in a cluster of zinc finger genes at 3p21. Naturally-occurring readthrough transcription is observed between this gene and the upstream zinc finger protein 660 gene and is represented by GeneID:110354863. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(41229,'NCBI Gene PubMed Count',NULL,15025,NULL,NULL,NULL,7,NULL,NULL,NULL),(41230,'NCBI Gene PubMed Count',NULL,15026,NULL,NULL,NULL,9,NULL,NULL,NULL),(41231,'NCBI Gene PubMed Count',NULL,15027,NULL,NULL,NULL,22,NULL,NULL,NULL),(41232,'NCBI Gene PubMed Count',NULL,15028,NULL,NULL,NULL,3,NULL,NULL,NULL),(41233,'NCBI Gene Summary',NULL,15029,NULL,'Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(41234,'NCBI Gene PubMed Count',NULL,15029,NULL,NULL,NULL,23,NULL,NULL,NULL),(41235,'NCBI Gene PubMed Count',NULL,15030,NULL,NULL,NULL,4,NULL,NULL,NULL),(41236,'NCBI Gene PubMed Count',NULL,15031,NULL,NULL,NULL,1,NULL,NULL,NULL),(41237,'NCBI Gene PubMed Count',NULL,15032,NULL,NULL,NULL,6,NULL,NULL,NULL),(41238,'NCBI Gene PubMed Count',NULL,15033,NULL,NULL,NULL,5,NULL,NULL,NULL),(41239,'NCBI Gene Summary',NULL,15034,NULL,'This gene encodes a zinc finger protein. The zinc finger proteins are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41240,'NCBI Gene PubMed Count',NULL,15034,NULL,NULL,NULL,15,NULL,NULL,NULL),(41241,'NCBI Gene PubMed Count',NULL,15035,NULL,NULL,NULL,8,NULL,NULL,NULL),(41242,'NCBI Gene PubMed Count',NULL,15036,NULL,NULL,NULL,6,NULL,NULL,NULL),(41243,'NCBI Gene Summary',NULL,15037,NULL,'The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41244,'NCBI Gene PubMed Count',NULL,15037,NULL,NULL,NULL,16,NULL,NULL,NULL),(41245,'NCBI Gene PubMed Count',NULL,15038,NULL,NULL,NULL,7,NULL,NULL,NULL),(41246,'NCBI Gene PubMed Count',NULL,15039,NULL,NULL,NULL,3,NULL,NULL,NULL),(41247,'NCBI Gene PubMed Count',NULL,15040,NULL,NULL,NULL,12,NULL,NULL,NULL),(41248,'NCBI Gene PubMed Count',NULL,15041,NULL,NULL,NULL,7,NULL,NULL,NULL),(41249,'NCBI Gene Summary',NULL,15042,NULL,'This gene encodes a protein with an amino-terminal KRAB-A box and multiple repeated Kruppel-type (C2H2) zinc finger motifs at its carboxy terminus. The encoded protein may function as a transcription factor. Expression of this gene is increased after vascular endothelial growth factor (VEGF) stimulation in human leukemia cell lines and results in inhibition of apoptotic cell death induced by irradiation or exposure to etoposide. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(41250,'NCBI Gene PubMed Count',NULL,15042,NULL,NULL,NULL,14,NULL,NULL,NULL),(41251,'NCBI Gene PubMed Count',NULL,15043,NULL,NULL,NULL,10,NULL,NULL,NULL),(41252,'NCBI Gene PubMed Count',NULL,15044,NULL,NULL,NULL,3,NULL,NULL,NULL),(41253,'NCBI Gene PubMed Count',NULL,15045,NULL,NULL,NULL,2,NULL,NULL,NULL),(41254,'NCBI Gene PubMed Count',NULL,15046,NULL,NULL,NULL,10,NULL,NULL,NULL),(41255,'NCBI Gene PubMed Count',NULL,15047,NULL,NULL,NULL,6,NULL,NULL,NULL),(41256,'NCBI Gene PubMed Count',NULL,15048,NULL,NULL,NULL,7,NULL,NULL,NULL),(41257,'NCBI Gene PubMed Count',NULL,15049,NULL,NULL,NULL,5,NULL,NULL,NULL),(41258,'NCBI Gene PubMed Count',NULL,15050,NULL,NULL,NULL,6,NULL,NULL,NULL),(41259,'NCBI Gene PubMed Count',NULL,15051,NULL,NULL,NULL,3,NULL,NULL,NULL),(41260,'NCBI Gene Summary',NULL,15052,NULL,'LGICZ1 is a zinc-activated ligand-gated ion channel that defines a new subgroup of the cysteine-loop superfamily of ligand-gated ion channels (Davies et al., 2003 [PubMed 12381728]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(41261,'NCBI Gene PubMed Count',NULL,15052,NULL,NULL,NULL,5,NULL,NULL,NULL),(41262,'NCBI Gene PubMed Count',NULL,15053,NULL,NULL,NULL,6,NULL,NULL,NULL),(41263,'NCBI Gene Summary',NULL,15055,NULL,'This gene belongs to a class of genes that arose through hAT DNA transposition and that encode regulatory proteins. This gene is upregulated in lung cancer tissues, where the encoded protein causes an accumulation of beta-catenin and enhanced lung cancer cell invasion. In addition, the encoded protein can be secreted and be involved in resistance to insulin. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(41264,'NCBI Gene PubMed Count',NULL,15055,NULL,NULL,NULL,14,NULL,NULL,NULL),(41265,'NCBI Gene PubMed Count',NULL,15056,NULL,NULL,NULL,8,NULL,NULL,NULL),(41266,'NCBI Gene Summary',NULL,15057,NULL,'The encoded protein contains GRF zinc finger (zf-GRF) and transmembrane domains. GRF zinc fingers are found in a number of DNA-binding proteins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(41267,'NCBI Gene PubMed Count',NULL,15057,NULL,NULL,NULL,13,NULL,NULL,NULL),(41268,'NCBI Gene PubMed Count',NULL,15058,NULL,NULL,NULL,16,NULL,NULL,NULL),(41269,'NCBI Gene PubMed Count',NULL,15059,NULL,NULL,NULL,4,NULL,NULL,NULL),(41270,'NCBI Gene Summary',NULL,15060,NULL,'This gene encodes a transcription factor that belongs to a large family of zinc finger proteins. A similar protein in mouse is thought to play a role in regulating the structures of the nucleolus and centromere in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(41271,'NCBI Gene PubMed Count',NULL,15060,NULL,NULL,NULL,5,NULL,NULL,NULL),(41272,'NCBI Gene PubMed Count',NULL,15061,NULL,NULL,NULL,8,NULL,NULL,NULL),(41273,'NCBI Gene PubMed Count',NULL,15062,NULL,NULL,NULL,8,NULL,NULL,NULL),(41274,'NCBI Gene Summary',NULL,15063,NULL,'The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(41275,'NCBI Gene PubMed Count',NULL,15063,NULL,NULL,NULL,18,NULL,NULL,NULL),(41276,'NCBI Gene PubMed Count',NULL,15064,NULL,NULL,NULL,12,NULL,NULL,NULL),(41277,'NCBI Gene Summary',NULL,15065,NULL,'This gene is imprinted in a tissue-specific manner with preferential expression in the testis, and encodes a zinc finger protein that belongs to a family of zinc finger transcription factors. The encoded protein contains an N-terminal SRE-ZBP, Ctfin51, AW-1, and Number 18 (SCAN) domain, a kruppel-associated box A (KRABA) domain, and four C-terminal zinc finger domains. This gene is located within one of three regions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2), and is thought to play a role in the etiology of this disease. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(41278,'NCBI Gene PubMed Count',NULL,15065,NULL,NULL,NULL,9,NULL,NULL,NULL),(41279,'NCBI Gene PubMed Count',NULL,15066,NULL,NULL,NULL,10,NULL,NULL,NULL),(41280,'NCBI Gene PubMed Count',NULL,15067,NULL,NULL,NULL,7,NULL,NULL,NULL),(41281,'NCBI Gene PubMed Count',NULL,15068,NULL,NULL,NULL,6,NULL,NULL,NULL),(41282,'NCBI Gene PubMed Count',NULL,15069,NULL,NULL,NULL,3,NULL,NULL,NULL),(41283,'NCBI Gene Summary',NULL,15070,NULL,'This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41284,'NCBI Gene PubMed Count',NULL,15070,NULL,NULL,NULL,21,NULL,NULL,NULL),(41285,'NCBI Gene PubMed Count',NULL,15071,NULL,NULL,NULL,13,NULL,NULL,NULL),(41286,'NCBI Gene PubMed Count',NULL,15072,NULL,NULL,NULL,2,NULL,NULL,NULL),(41287,'NCBI Gene PubMed Count',NULL,15073,NULL,NULL,NULL,4,NULL,NULL,NULL),(41288,'NCBI Gene PubMed Count',NULL,15074,NULL,NULL,NULL,17,NULL,NULL,NULL),(41289,'NCBI Gene PubMed Count',NULL,15075,NULL,NULL,NULL,6,NULL,NULL,NULL),(41290,'NCBI Gene PubMed Count',NULL,15076,NULL,NULL,NULL,11,NULL,NULL,NULL),(41291,'NCBI Gene PubMed Count',NULL,15077,NULL,NULL,NULL,1,NULL,NULL,NULL),(41292,'NCBI Gene PubMed Count',NULL,15078,NULL,NULL,NULL,7,NULL,NULL,NULL),(41293,'NCBI Gene Summary',NULL,15079,NULL,'This gene encodes a member of a family of proteins that function as zinc transporters. This protein can regulate subcellular levels of zinc in the Golgi and vesicles. Expression of this gene is altered in the Alzheimer\'s disease brain plaques. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(41294,'NCBI Gene PubMed Count',NULL,15079,NULL,NULL,NULL,18,NULL,NULL,NULL),(41295,'NCBI Gene PubMed Count',NULL,15080,NULL,NULL,NULL,12,NULL,NULL,NULL),(41296,'NCBI Gene PubMed Count',NULL,15081,NULL,NULL,NULL,10,NULL,NULL,NULL),(41297,'NCBI Gene PubMed Count',NULL,15082,NULL,NULL,NULL,1,NULL,NULL,NULL),(41298,'NCBI Gene PubMed Count',NULL,15083,NULL,NULL,NULL,4,NULL,NULL,NULL),(41299,'NCBI Gene PubMed Count',NULL,15084,NULL,NULL,NULL,1,NULL,NULL,NULL),(41300,'NCBI Gene PubMed Count',NULL,15085,NULL,NULL,NULL,6,NULL,NULL,NULL),(41301,'NCBI Gene Summary',NULL,15086,NULL,'The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(41302,'NCBI Gene PubMed Count',NULL,15086,NULL,NULL,NULL,16,NULL,NULL,NULL),(41303,'NCBI Gene PubMed Count',NULL,15087,NULL,NULL,NULL,5,NULL,NULL,NULL),(41304,'NCBI Gene Summary',NULL,15088,NULL,'This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and sixteen C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(41305,'NCBI Gene PubMed Count',NULL,15088,NULL,NULL,NULL,6,NULL,NULL,NULL),(41306,'NCBI Gene Summary',NULL,15089,NULL,'This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41307,'NCBI Gene PubMed Count',NULL,15089,NULL,NULL,NULL,7,NULL,NULL,NULL),(41308,'NCBI Gene Summary',NULL,15090,NULL,'This gene encodes a protein that contains multiple C2H2 zinc finger domains, and is located in a cluster of zinc-finger encoding genes on chromosome 3. Naturally-occurring readthrough transcription is observed between this gene and the downstream zinc finger protein 197 gene and is represented by GeneID:110354863. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(41309,'NCBI Gene PubMed Count',NULL,15090,NULL,NULL,NULL,3,NULL,NULL,NULL),(41310,'NCBI Gene PubMed Count',NULL,15091,NULL,NULL,NULL,5,NULL,NULL,NULL),(41311,'NCBI Gene Summary',NULL,15092,NULL,'Zinc finger proteins, such as ZNF272, interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, May 2004]',NULL,NULL,NULL,NULL,NULL),(41312,'NCBI Gene PubMed Count',NULL,15092,NULL,NULL,NULL,7,NULL,NULL,NULL),(41313,'NCBI Gene Summary',NULL,15093,NULL,'The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(41314,'NCBI Gene PubMed Count',NULL,15093,NULL,NULL,NULL,21,NULL,NULL,NULL),(41315,'NCBI Gene PubMed Count',NULL,15094,NULL,NULL,NULL,3,NULL,NULL,NULL),(41316,'NCBI Gene PubMed Count',NULL,15095,NULL,NULL,NULL,7,NULL,NULL,NULL),(41317,'NCBI Gene PubMed Count',NULL,15096,NULL,NULL,NULL,4,NULL,NULL,NULL),(41318,'NCBI Gene PubMed Count',NULL,15097,NULL,NULL,NULL,4,NULL,NULL,NULL),(41319,'NCBI Gene PubMed Count',NULL,15098,NULL,NULL,NULL,14,NULL,NULL,NULL),(41320,'NCBI Gene PubMed Count',NULL,15099,NULL,NULL,NULL,6,NULL,NULL,NULL),(41321,'NCBI Gene PubMed Count',NULL,15100,NULL,NULL,NULL,6,NULL,NULL,NULL),(41322,'NCBI Gene Summary',NULL,15101,NULL,'This gene encodes a protein that likely functions as a transcription factor. The protein, which belongs to the ZNF75 family, includes an N-terminal SCAN domain, a KRAB box, and five C2H2-type zinc finger motifs. Another functional gene belonging to this family is located on chromosome 16, while pseudogenes have been identified on chromosomes 11 and 12. Alternative splicing results in multiple transcripts variants. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(41323,'NCBI Gene PubMed Count',NULL,15101,NULL,NULL,NULL,9,NULL,NULL,NULL),(41324,'NCBI Gene PubMed Count',NULL,15102,NULL,NULL,NULL,12,NULL,NULL,NULL),(41325,'NCBI Gene PubMed Count',NULL,15103,NULL,NULL,NULL,11,NULL,NULL,NULL),(41326,'NCBI Gene PubMed Count',NULL,15104,NULL,NULL,NULL,5,NULL,NULL,NULL),(41327,'NCBI Gene PubMed Count',NULL,15105,NULL,NULL,NULL,7,NULL,NULL,NULL),(41328,'NCBI Gene PubMed Count',NULL,15106,NULL,NULL,NULL,3,NULL,NULL,NULL),(41329,'NCBI Gene Summary',NULL,15107,NULL,'The ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining normal karyotype for many cell divisions in culture (Zalzman et al., 2010 [PubMed 20336070]).[supplied by OMIM, May 2010]',NULL,NULL,NULL,NULL,NULL),(41330,'NCBI Gene PubMed Count',NULL,15107,NULL,NULL,NULL,13,NULL,NULL,NULL),(41331,'NCBI Gene Summary',NULL,15108,NULL,'The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(41332,'NCBI Gene PubMed Count',NULL,15108,NULL,NULL,NULL,16,NULL,NULL,NULL),(41333,'NCBI Gene Summary',NULL,15109,NULL,'This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(41334,'NCBI Gene PubMed Count',NULL,15109,NULL,NULL,NULL,10,NULL,NULL,NULL),(41335,'NCBI Gene PubMed Count',NULL,15111,NULL,NULL,NULL,4,NULL,NULL,NULL),(41336,'NCBI Gene Summary',NULL,15112,NULL,'This gene is located upstream of the Wilms tumor 1 (WT1) gene; these two genes are bi-directionally transcribed from the same promoter region. This gene is imprinted in kidney, with preferential expression from the paternal allele. Imprinting defects at chromosome 11p13 may contribute to tumorigenesis. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(41337,'NCBI Gene PubMed Count',NULL,15112,NULL,NULL,NULL,18,NULL,NULL,NULL),(41338,'NCBI Gene PubMed Count',NULL,15113,NULL,NULL,NULL,12,NULL,NULL,NULL),(41339,'NCBI Gene Summary',NULL,15114,NULL,'This gene is a member of the WNT gene family. The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41340,'NCBI Gene PubMed Count',NULL,15114,NULL,NULL,NULL,81,NULL,NULL,NULL),(41341,'NCBI Gene Summary',NULL,15115,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(41342,'NCBI Gene PubMed Count',NULL,15115,NULL,NULL,NULL,345,NULL,NULL,NULL),(41343,'NCBI Gene Summary',NULL,15116,NULL,'The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 96% amino acid identity to mouse Wnt3A protein, and 84% to human WNT3 protein, another WNT gene product. This gene is clustered with WNT14 gene, another family member, in chromosome 1q42 region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41344,'NCBI Gene PubMed Count',NULL,15116,NULL,NULL,NULL,184,NULL,NULL,NULL),(41345,'NCBI Gene Summary',NULL,15117,NULL,'This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(41346,'NCBI Gene PubMed Count',NULL,15117,NULL,NULL,NULL,58,NULL,NULL,NULL),(41347,'NCBI Gene Summary',NULL,15118,NULL,'This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(41348,'NCBI Gene PubMed Count',NULL,15118,NULL,NULL,NULL,58,NULL,NULL,NULL),(41349,'NCBI Gene Summary',NULL,15121,NULL,'The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events.  This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41350,'NCBI Gene PubMed Count',NULL,15121,NULL,NULL,NULL,279,NULL,NULL,NULL),(41351,'NCBI Gene Summary',NULL,15122,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41352,'NCBI Gene PubMed Count',NULL,15122,NULL,NULL,NULL,25,NULL,NULL,NULL),(41353,'NCBI Gene Summary',NULL,15123,NULL,'VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(41354,'NCBI Gene PubMed Count',NULL,15123,NULL,NULL,NULL,72,NULL,NULL,NULL),(41355,'NCBI Gene Summary',NULL,15124,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41356,'NCBI Gene PubMed Count',NULL,15124,NULL,NULL,NULL,36,NULL,NULL,NULL),(41357,'NCBI Gene Summary',NULL,15125,NULL,'This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(41358,'NCBI Gene PubMed Count',NULL,15125,NULL,NULL,NULL,515,NULL,NULL,NULL),(41359,'NCBI Gene Summary',NULL,15126,NULL,'This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22, and the Y-linked members are two identical copies of the gene within a palindromic region on chromosome Yq11. The family members share a high degree of sequence identity, with the exception that a 30-nt unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This family member, as represented by the reference genome allele, contains 14 copies of the 30-nt repeat unit. VCX/Y genes encode small and highly charged proteins containing putative bipartite nuclear localization signals. Although the exact function of this family member has yet to be determined, a role in mRNA stability regulation can be inferred from the ability of the highly similar family member, VCX-A, to inhibit mRNA decapping. A possible role in the regulation of ribosome assembly during spermatogenesis has also been suggested. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(41360,'NCBI Gene PubMed Count',NULL,15126,NULL,NULL,NULL,11,NULL,NULL,NULL),(41361,'NCBI Gene Summary',NULL,15127,NULL,'This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41362,'NCBI Gene PubMed Count',NULL,15127,NULL,NULL,NULL,11,NULL,NULL,NULL),(41363,'NCBI Gene Summary',NULL,15128,NULL,'The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41364,'NCBI Gene PubMed Count',NULL,15128,NULL,NULL,NULL,8,NULL,NULL,NULL),(41365,'NCBI Gene Summary',NULL,15129,NULL,'This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41366,'NCBI Gene PubMed Count',NULL,15129,NULL,NULL,NULL,18,NULL,NULL,NULL),(41367,'NCBI Gene Summary',NULL,15130,NULL,'This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(41368,'NCBI Gene PubMed Count',NULL,15130,NULL,NULL,NULL,13,NULL,NULL,NULL),(41369,'NCBI Gene Summary',NULL,15132,NULL,'This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 10 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41370,'NCBI Gene PubMed Count',NULL,15132,NULL,NULL,NULL,9,NULL,NULL,NULL),(41371,'NCBI Gene Summary',NULL,15134,NULL,'This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(41372,'NCBI Gene PubMed Count',NULL,15134,NULL,NULL,NULL,4340,NULL,NULL,NULL),(41373,'NCBI Gene Summary',NULL,15135,NULL,'The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial cell growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. Read-through transcription has been observed between this locus and the upstream PIR (GeneID 8544) locus. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(41374,'NCBI Gene PubMed Count',NULL,15135,NULL,NULL,NULL,133,NULL,NULL,NULL),(41375,'NCBI Gene Summary',NULL,15136,NULL,'This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene. A transcribed pseudogene located on chromosome X may lead to antigen production in certain melanomas. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41376,'NCBI Gene PubMed Count',NULL,15136,NULL,NULL,NULL,19,NULL,NULL,NULL),(41377,'NCBI Gene Summary',NULL,15139,NULL,'This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(41378,'NCBI Gene PubMed Count',NULL,15139,NULL,NULL,NULL,663,NULL,NULL,NULL),(41379,'NCBI Gene Summary',NULL,15140,NULL,'Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(41380,'NCBI Gene PubMed Count',NULL,15140,NULL,NULL,NULL,881,NULL,NULL,NULL),(41381,'NCBI Gene PubMed Count',NULL,15141,NULL,NULL,NULL,15,NULL,NULL,NULL),(41382,'NCBI Gene Summary',NULL,15142,NULL,'The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41383,'NCBI Gene PubMed Count',NULL,15142,NULL,NULL,NULL,26,NULL,NULL,NULL),(41384,'NCBI Gene Summary',NULL,15143,NULL,'Summary: The protein encoded by this gene is a scaffolding subunit of the ATAC complex, which is a complex with acetyltransferase activity on histones H3 and H4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(41385,'NCBI Gene PubMed Count',NULL,15143,NULL,NULL,NULL,10,NULL,NULL,NULL),(41386,'NCBI Gene Summary',NULL,15156,NULL,'The protein encoded by this gene is a transcription factor that includes several Kruppel-like zinc fingers in its C-terminal region. It possesses both activation and repression domains, and it can therefore have both positive and negative effects on the transcription of target genes. This gene has an intronless coding region, and it appears to have arisen by retrotransposition of the related YY1 transcription factor gene, which is located on chromosome 14. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(41387,'NCBI Gene PubMed Count',NULL,15156,NULL,NULL,NULL,14,NULL,NULL,NULL),(41388,'NCBI Gene Summary',NULL,15157,NULL,'This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41389,'NCBI Gene PubMed Count',NULL,15157,NULL,NULL,NULL,38,NULL,NULL,NULL),(41390,'NCBI Gene Summary',NULL,15158,NULL,'Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(41391,'NCBI Gene PubMed Count',NULL,15158,NULL,NULL,NULL,10,NULL,NULL,NULL),(41392,'NCBI Gene Summary',NULL,15159,NULL,'This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(41393,'NCBI Gene PubMed Count',NULL,15159,NULL,NULL,NULL,47,NULL,NULL,NULL),(41394,'NCBI Gene Summary',NULL,15160,NULL,'The protein encoded by this intronless gene belongs to the highly variable methyltransferase superfamily. This gene is the inferred homolog of the Saccharomyces cerevisiae carboxymethyltransferase gene PPM2 that is essential for the synthesis of the hypermodified guanosine Wybutosine (yW). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41395,'NCBI Gene PubMed Count',NULL,15160,NULL,NULL,NULL,11,NULL,NULL,NULL),(41396,'NCBI Gene Summary',NULL,15161,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(41397,'NCBI Gene PubMed Count',NULL,15161,NULL,NULL,NULL,20,NULL,NULL,NULL),(41398,'NCBI Gene Summary',NULL,15162,NULL,'This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer\'s disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(41399,'NCBI Gene PubMed Count',NULL,15162,NULL,NULL,NULL,165,NULL,NULL,NULL),(41400,'NCBI Gene Summary',NULL,15163,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41401,'NCBI Gene PubMed Count',NULL,15163,NULL,NULL,NULL,31,NULL,NULL,NULL),(41402,'NCBI Gene Summary',NULL,15164,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41403,'NCBI Gene PubMed Count',NULL,15164,NULL,NULL,NULL,36,NULL,NULL,NULL),(41404,'NCBI Gene PubMed Count',NULL,15165,NULL,NULL,NULL,1,NULL,NULL,NULL),(41405,'NCBI Gene Summary',NULL,15166,NULL,'The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(41406,'NCBI Gene PubMed Count',NULL,15166,NULL,NULL,NULL,31,NULL,NULL,NULL),(41407,'NCBI Gene PubMed Count',NULL,15167,NULL,NULL,NULL,50,NULL,NULL,NULL),(41408,'NCBI Gene Summary',NULL,15168,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\'\', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41409,'NCBI Gene PubMed Count',NULL,15168,NULL,NULL,NULL,33,NULL,NULL,NULL),(41410,'NCBI Gene Summary',NULL,15169,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41411,'NCBI Gene PubMed Count',NULL,15169,NULL,NULL,NULL,40,NULL,NULL,NULL),(41412,'NCBI Gene PubMed Count',NULL,15170,NULL,NULL,NULL,17,NULL,NULL,NULL),(41413,'NCBI Gene Summary',NULL,15171,NULL,'This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\'\' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41414,'NCBI Gene PubMed Count',NULL,15171,NULL,NULL,NULL,22,NULL,NULL,NULL),(41415,'NCBI Gene Summary',NULL,15172,NULL,'This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(41416,'NCBI Gene PubMed Count',NULL,15172,NULL,NULL,NULL,188,NULL,NULL,NULL),(41417,'NCBI Gene Summary',NULL,15173,NULL,'This gene encodes a member of the voltage-dependent anion channel pore-forming family of proteins that are considered the main pathway for metabolite diffusion across the mitochondrial outer membrane. The encoded protein is also thought to be involved in the mitochondrial apoptotic pathway via regulation of BCL2-antagonist/killer 1 protein activity. Pseudogenes have been identified on chromosomes 1, 2, 12 and 21, and alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(41418,'NCBI Gene PubMed Count',NULL,15173,NULL,NULL,NULL,55,NULL,NULL,NULL),(41419,'NCBI Gene Summary',NULL,15178,NULL,'The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 receptors. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(41420,'NCBI Gene PubMed Count',NULL,15178,NULL,NULL,NULL,420,NULL,NULL,NULL),(41421,'NCBI Gene PubMed Count',NULL,15179,NULL,NULL,NULL,1,NULL,NULL,NULL),(41422,'NCBI Gene PubMed Count',NULL,15180,NULL,NULL,NULL,5,NULL,NULL,NULL),(41423,'NCBI Gene Summary',NULL,15181,NULL,'This gene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this gene in gastric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this gene may also be inhibited by binding of a specific microRNA to a target sequence in the 3\' UTR of the transcripts. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(41424,'NCBI Gene PubMed Count',NULL,15181,NULL,NULL,NULL,15,NULL,NULL,NULL),(41425,'NCBI Gene Summary',NULL,15182,NULL,'Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(41426,'NCBI Gene PubMed Count',NULL,15182,NULL,NULL,NULL,7,NULL,NULL,NULL),(41427,'NCBI Gene PubMed Count',NULL,15183,NULL,NULL,NULL,8,NULL,NULL,NULL),(41428,'NCBI Gene Summary',NULL,15185,NULL,'This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41429,'NCBI Gene PubMed Count',NULL,15185,NULL,NULL,NULL,61,NULL,NULL,NULL),(41430,'NCBI Gene Summary',NULL,15186,NULL,'The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(41431,'NCBI Gene PubMed Count',NULL,15186,NULL,NULL,NULL,68,NULL,NULL,NULL),(41432,'NCBI Gene Summary',NULL,15187,NULL,'This gene encodes a thioredoxin-binding protein that is a member of the alpha arrestin protein family. Thioredoxin is a thiol-oxidoreductase that is a major regulator of cellular redox signaling which protects cells from oxidative stress. This protein inhibits the antioxidative function of thioredoxin resulting in the accumulation of reactive oxygen species and cellular stress. This protein also functions as a regulator of cellular metabolism and of endoplasmic reticulum (ER) stress. This protein may also function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(41433,'NCBI Gene PubMed Count',NULL,15187,NULL,NULL,NULL,160,NULL,NULL,NULL),(41434,'NCBI Gene Summary',NULL,15188,NULL,'Wybutosine is a hypermodified guanosine found in phenylalanine tRNA. Wybutosine functions to stabilize codon-anticodon interactions during ribosome decoding and therefore supports the maintenance of the reading frame. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. The human genome contains two closely related genes that putatively function in wybutosine synthesis. The open reading frame of this locus is disrupted in some individuals. Thus, this locus appears to be an evolving pseudogene, but may still be functional in some members of the population. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(41435,'NCBI Gene PubMed Count',NULL,15188,NULL,NULL,NULL,8,NULL,NULL,NULL),(41436,'NCBI Gene Summary',NULL,15189,NULL,'This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(41437,'NCBI Gene PubMed Count',NULL,15189,NULL,NULL,NULL,81,NULL,NULL,NULL),(41438,'NCBI Gene Summary',NULL,15190,NULL,'This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3\' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41439,'NCBI Gene PubMed Count',NULL,15190,NULL,NULL,NULL,18,NULL,NULL,NULL),(41440,'NCBI Gene Summary',NULL,15191,NULL,'This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves\' disease. Differential expression of this gene has been observed in various human cancers. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(41441,'NCBI Gene PubMed Count',NULL,15191,NULL,NULL,NULL,24,NULL,NULL,NULL),(41442,'NCBI Gene Summary',NULL,15192,NULL,'This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(41443,'NCBI Gene PubMed Count',NULL,15192,NULL,NULL,NULL,36,NULL,NULL,NULL),(41444,'NCBI Gene Summary',NULL,15193,NULL,'The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(41445,'NCBI Gene PubMed Count',NULL,15193,NULL,NULL,NULL,21,NULL,NULL,NULL),(41446,'NCBI Gene Summary',NULL,15194,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Studies in mouse suggest that this protein plays a role in DNA postreplication repair. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41447,'NCBI Gene PubMed Count',NULL,15194,NULL,NULL,NULL,87,NULL,NULL,NULL),(41448,'NCBI Gene Summary',NULL,15195,NULL,'UBTFL1 is a preimplantation-specific gene and is involved in early development, implantation, and embryonic stem (ES) cell derivation (summary by Yamada et al., 2010 [PubMed 19915186]).[supplied by OMIM, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(41449,'NCBI Gene PubMed Count',NULL,15195,NULL,NULL,NULL,2,NULL,NULL,NULL),(41450,'NCBI Gene Summary',NULL,15196,NULL,'This gene encodes a protein which contains two ubiquitin-like domains and appears to have similar function to ubiquitin. Through covalent attachment, the encoded protein targets other proteins for 26S proteasome degradation. This protein has been implicated to function in many cellular processes, including caspase-dependent apoptosis, formation of aggresomes, mitotic regulation, and dendritic cell maturation. Upregulation of this gene may promote inflammation in chronic kidney disease and has been observed in many cancer types. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(41451,'NCBI Gene PubMed Count',NULL,15196,NULL,NULL,NULL,91,NULL,NULL,NULL),(41452,'NCBI Gene Summary',NULL,15197,NULL,'The TMEM189-UEV mRNA is an infrequent but naturally occurring read-through transcript of the neighboring TMEM189 and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein produced by this transcript has UEV1 B domains but the protein is localized to the cytoplasm rather than to the nucleus. The significance of this read-through mRNA and the function of its protein product has not yet been determined. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(41453,'NCBI Gene PubMed Count',NULL,15197,NULL,NULL,NULL,13,NULL,NULL,NULL),(41454,'NCBI Gene Summary',NULL,15198,NULL,'The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41455,'NCBI Gene PubMed Count',NULL,15198,NULL,NULL,NULL,50,NULL,NULL,NULL),(41456,'NCBI Gene Summary',NULL,15199,NULL,'The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(41457,'NCBI Gene PubMed Count',NULL,15199,NULL,NULL,NULL,243,NULL,NULL,NULL),(41458,'NCBI Gene Summary',NULL,15200,NULL,'The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(41459,'NCBI Gene PubMed Count',NULL,15200,NULL,NULL,NULL,39,NULL,NULL,NULL),(41460,'NCBI Gene Summary',NULL,15201,NULL,'This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(41461,'NCBI Gene PubMed Count',NULL,15201,NULL,NULL,NULL,15,NULL,NULL,NULL),(41462,'NCBI Gene Summary',NULL,15202,NULL,'This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(41463,'NCBI Gene PubMed Count',NULL,15202,NULL,NULL,NULL,25,NULL,NULL,NULL),(41464,'NCBI Gene Summary',NULL,15203,NULL,'The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(41465,'NCBI Gene PubMed Count',NULL,15203,NULL,NULL,NULL,13,NULL,NULL,NULL),(41466,'NCBI Gene PubMed Count',NULL,15204,NULL,NULL,NULL,26,NULL,NULL,NULL),(41467,'NCBI Gene Summary',NULL,15205,NULL,'This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41468,'NCBI Gene PubMed Count',NULL,15205,NULL,NULL,NULL,79,NULL,NULL,NULL),(41469,'NCBI Gene Summary',NULL,15206,NULL,'Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(41470,'NCBI Gene PubMed Count',NULL,15206,NULL,NULL,NULL,13,NULL,NULL,NULL),(41471,'NCBI Gene PubMed Count',NULL,15207,NULL,NULL,NULL,9,NULL,NULL,NULL),(41472,'NCBI Gene Summary',NULL,15208,NULL,'This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosomal retrotransposed copy of this X-linked gene exists on chromosome 13. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(41473,'NCBI Gene PubMed Count',NULL,15208,NULL,NULL,NULL,22,NULL,NULL,NULL),(41474,'NCBI Gene Summary',NULL,15209,NULL,'This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(41475,'NCBI Gene PubMed Count',NULL,15209,NULL,NULL,NULL,22,NULL,NULL,NULL),(41476,'NCBI Gene PubMed Count',NULL,15210,NULL,NULL,NULL,19,NULL,NULL,NULL),(41477,'NCBI Gene Summary',NULL,15211,NULL,'Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(41478,'NCBI Gene PubMed Count',NULL,15211,NULL,NULL,NULL,10,NULL,NULL,NULL),(41479,'NCBI Gene Summary',NULL,15212,NULL,'This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41480,'NCBI Gene PubMed Count',NULL,15212,NULL,NULL,NULL,27,NULL,NULL,NULL),(41481,'NCBI Gene PubMed Count',NULL,15213,NULL,NULL,NULL,0,NULL,NULL,NULL),(41482,'NCBI Gene Summary',NULL,15214,NULL,'The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41483,'NCBI Gene PubMed Count',NULL,15214,NULL,NULL,NULL,95,NULL,NULL,NULL),(41484,'NCBI Gene Summary',NULL,15215,NULL,'Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41485,'NCBI Gene PubMed Count',NULL,15215,NULL,NULL,NULL,13,NULL,NULL,NULL),(41486,'NCBI Gene Summary',NULL,15216,NULL,'The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41487,'NCBI Gene PubMed Count',NULL,15216,NULL,NULL,NULL,52,NULL,NULL,NULL),(41488,'NCBI Gene PubMed Count',NULL,15217,NULL,NULL,NULL,5,NULL,NULL,NULL),(41489,'NCBI Gene Summary',NULL,15218,NULL,'Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an EHV1 N-terminal domain that binds proteins containing E/DFPPPPXD/E motifs and targets Ena-VASP proteins to focal adhesions. In the mid-region of the protein, family members have a proline-rich domain that binds SH3 and WW domain-containing proteins. Their C-terminal EVH2 domain mediates tetramerization and binds both G and F actin. VASP is associated with filamentous actin formation and likely plays a widespread role in cell adhesion and motility. VASP may also be involved in the intracellular signaling pathways that regulate integrin-extracellular matrix interactions. VASP is regulated by the cyclic nucleotide-dependent kinases PKA and PKG. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41490,'NCBI Gene PubMed Count',NULL,15218,NULL,NULL,NULL,144,NULL,NULL,NULL),(41491,'NCBI Gene PubMed Count',NULL,15219,NULL,NULL,NULL,9,NULL,NULL,NULL),(41492,'NCBI Gene Summary',NULL,15220,NULL,'Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41493,'NCBI Gene PubMed Count',NULL,15220,NULL,NULL,NULL,17,NULL,NULL,NULL),(41494,'NCBI Gene PubMed Count',NULL,15221,NULL,NULL,NULL,64,NULL,NULL,NULL),(41495,'NCBI Gene Summary',NULL,15222,NULL,'This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(41496,'NCBI Gene PubMed Count',NULL,15222,NULL,NULL,NULL,8,NULL,NULL,NULL),(41497,'NCBI Gene PubMed Count',NULL,15223,NULL,NULL,NULL,5,NULL,NULL,NULL),(41498,'NCBI Gene PubMed Count',NULL,15224,NULL,NULL,NULL,13,NULL,NULL,NULL),(41499,'NCBI Gene PubMed Count',NULL,15225,NULL,NULL,NULL,8,NULL,NULL,NULL),(41500,'NCBI Gene Summary',NULL,15226,NULL,'The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. It plays a role in protecting neurons by inhibiting cell cycle re-entry via stimulation of p21 gene expression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(41501,'NCBI Gene PubMed Count',NULL,15226,NULL,NULL,NULL,25,NULL,NULL,NULL),(41502,'NCBI Gene Summary',NULL,15227,NULL,'Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(41503,'NCBI Gene PubMed Count',NULL,15227,NULL,NULL,NULL,3,NULL,NULL,NULL),(41504,'NCBI Gene Summary',NULL,15228,NULL,'This gene encodes a member of the zinc-finger protein family. The encoded protein contains seven C2H2-type zinc fingers and a KRAB domain, but its function has yet to be determined. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(41505,'NCBI Gene PubMed Count',NULL,15228,NULL,NULL,NULL,8,NULL,NULL,NULL),(41506,'NCBI Gene PubMed Count',NULL,15229,NULL,NULL,NULL,9,NULL,NULL,NULL),(41507,'NCBI Gene Summary',NULL,15230,NULL,'The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus regulating their levels and cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(41508,'NCBI Gene PubMed Count',NULL,15230,NULL,NULL,NULL,52,NULL,NULL,NULL),(41509,'NCBI Gene Summary',NULL,15231,NULL,'The protein encoded by this gene is predicted to be a Kruppel C2H2-type zinc-finger protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes in the N-terminus and highly conserved zinc finger motifs at the C-terminus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(41510,'NCBI Gene PubMed Count',NULL,15231,NULL,NULL,NULL,10,NULL,NULL,NULL),(41511,'NCBI Gene Summary',NULL,15232,NULL,'Kruppel-like zinc finger proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding zinc finger repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc finger proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.[supplied by OMIM, May 2010]',NULL,NULL,NULL,NULL,NULL),(41512,'NCBI Gene PubMed Count',NULL,15232,NULL,NULL,NULL,11,NULL,NULL,NULL),(41513,'NCBI Gene PubMed Count',NULL,15233,NULL,NULL,NULL,7,NULL,NULL,NULL),(41514,'NCBI Gene Summary',NULL,15234,NULL,'Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(41515,'NCBI Gene PubMed Count',NULL,15234,NULL,NULL,NULL,12,NULL,NULL,NULL),(41516,'NCBI Gene Summary',NULL,15235,NULL,'The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(41517,'NCBI Gene PubMed Count',NULL,15235,NULL,NULL,NULL,17,NULL,NULL,NULL),(41518,'NCBI Gene PubMed Count',NULL,15236,NULL,NULL,NULL,5,NULL,NULL,NULL),(41519,'NCBI Gene PubMed Count',NULL,15237,NULL,NULL,NULL,8,NULL,NULL,NULL),(41520,'NCBI Gene PubMed Count',NULL,15238,NULL,NULL,NULL,1,NULL,NULL,NULL),(41521,'NCBI Gene PubMed Count',NULL,15239,NULL,NULL,NULL,6,NULL,NULL,NULL),(41522,'NCBI Gene PubMed Count',NULL,15240,NULL,NULL,NULL,12,NULL,NULL,NULL),(41523,'NCBI Gene Summary',NULL,15241,NULL,'This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and nine C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(41524,'NCBI Gene PubMed Count',NULL,15241,NULL,NULL,NULL,6,NULL,NULL,NULL),(41525,'NCBI Gene PubMed Count',NULL,15242,NULL,NULL,NULL,2,NULL,NULL,NULL),(41526,'NCBI Gene PubMed Count',NULL,15243,NULL,NULL,NULL,31,NULL,NULL,NULL),(41527,'NCBI Gene PubMed Count',NULL,15244,NULL,NULL,NULL,4,NULL,NULL,NULL),(41528,'NCBI Gene PubMed Count',NULL,15245,NULL,NULL,NULL,6,NULL,NULL,NULL),(41529,'NCBI Gene PubMed Count',NULL,15246,NULL,NULL,NULL,6,NULL,NULL,NULL),(41530,'NCBI Gene PubMed Count',NULL,15247,NULL,NULL,NULL,8,NULL,NULL,NULL),(41531,'NCBI Gene PubMed Count',NULL,15248,NULL,NULL,NULL,9,NULL,NULL,NULL),(41532,'NCBI Gene PubMed Count',NULL,15249,NULL,NULL,NULL,2,NULL,NULL,NULL),(41533,'NCBI Gene Summary',NULL,15250,NULL,'This gene encodes one of two duplicated zinc finger genes on chromosome Xp11. This gene is the telomeric copy; GeneID 158586 ZXDB is the more centromeric copy. The two genes have 98% nucleotide sequence similarity, and the predicted proteins contain 10 tandem zinc finger motifs. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(41534,'NCBI Gene PubMed Count',NULL,15250,NULL,NULL,NULL,11,NULL,NULL,NULL),(41535,'NCBI Gene Summary',NULL,15251,NULL,'The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(41536,'NCBI Gene PubMed Count',NULL,15251,NULL,NULL,NULL,57,NULL,NULL,NULL),(41537,'NCBI Gene Summary',NULL,15252,NULL,'The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(41538,'NCBI Gene PubMed Count',NULL,15252,NULL,NULL,NULL,34,NULL,NULL,NULL),(41539,'NCBI Gene Summary',NULL,15253,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41540,'NCBI Gene PubMed Count',NULL,15253,NULL,NULL,NULL,1815,NULL,NULL,NULL),(41541,'NCBI Gene Summary',NULL,15254,NULL,'The protein encoded by this intronless gene is a G-protein coupled receptor for serotonin (5-hydroxytryptamine). Ligand binding activates second messengers that inhibit the activity of adenylate cyclase and manage the release of serotonin, dopamine, and acetylcholine in the brain. The encoded protein may be involved in several neuropsychiatric disorders and therefore is often a target of antidepressant and other psychotherapeutic drugs. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(41542,'NCBI Gene PubMed Count',NULL,15254,NULL,NULL,NULL,192,NULL,NULL,NULL),(41543,'NCBI Gene Summary',NULL,15255,NULL,'This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3\' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(41544,'NCBI Gene PubMed Count',NULL,15255,NULL,NULL,NULL,110,NULL,NULL,NULL),(41545,'NCBI Gene PubMed Count',NULL,15256,NULL,NULL,NULL,5,NULL,NULL,NULL),(41546,'NCBI Gene Summary',NULL,15257,NULL,'This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(41547,'NCBI Gene PubMed Count',NULL,15257,NULL,NULL,NULL,21,NULL,NULL,NULL),(41548,'NCBI Gene Summary',NULL,15258,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41549,'NCBI Gene PubMed Count',NULL,15258,NULL,NULL,NULL,49,NULL,NULL,NULL),(41550,'NCBI Gene Summary',NULL,15259,NULL,'This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(41551,'NCBI Gene PubMed Count',NULL,15259,NULL,NULL,NULL,18,NULL,NULL,NULL),(41552,'NCBI Gene Summary',NULL,15260,NULL,'The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(41553,'NCBI Gene PubMed Count',NULL,15260,NULL,NULL,NULL,14,NULL,NULL,NULL),(41554,'NCBI Gene Summary',NULL,15261,NULL,'The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(41555,'NCBI Gene PubMed Count',NULL,15261,NULL,NULL,NULL,59,NULL,NULL,NULL),(41556,'NCBI Gene Summary',NULL,15262,NULL,'The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]',NULL,NULL,NULL,NULL,NULL),(41557,'NCBI Gene PubMed Count',NULL,15262,NULL,NULL,NULL,17,NULL,NULL,NULL),(41558,'NCBI Gene Summary',NULL,15263,NULL,'This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41559,'NCBI Gene PubMed Count',NULL,15263,NULL,NULL,NULL,96,NULL,NULL,NULL),(41560,'NCBI Gene Summary',NULL,15264,NULL,'The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(41561,'NCBI Gene PubMed Count',NULL,15264,NULL,NULL,NULL,219,NULL,NULL,NULL),(41562,'NCBI Gene Summary',NULL,15265,NULL,'This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(41563,'NCBI Gene PubMed Count',NULL,15265,NULL,NULL,NULL,53,NULL,NULL,NULL),(41564,'NCBI Gene Summary',NULL,15266,NULL,'The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(41565,'NCBI Gene PubMed Count',NULL,15266,NULL,NULL,NULL,34,NULL,NULL,NULL),(41566,'NCBI Gene Summary',NULL,15267,NULL,'The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(41567,'NCBI Gene PubMed Count',NULL,15267,NULL,NULL,NULL,271,NULL,NULL,NULL),(41568,'NCBI Gene Summary',NULL,15268,NULL,'This gene encodes a member of the acyl-CoA thioesterase family which catalyse the conversion of activated fatty acids to the corresponding non-esterified fatty acid and coenzyme A. Expression of a mouse homolog in brown adipose tissue is induced by low temperatures and repressed by warm temperatures. Higher levels of expression of the mouse homolog has been found in obesity-resistant mice compared with obesity-prone mice, suggesting a role of acyl-CoA thioesterase 11 in obesity. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(41569,'NCBI Gene PubMed Count',NULL,15268,NULL,NULL,NULL,16,NULL,NULL,NULL),(41570,'NCBI Gene PubMed Count',NULL,15269,NULL,NULL,NULL,6,NULL,NULL,NULL),(41571,'NCBI Gene Summary',NULL,15270,NULL,'The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(41572,'NCBI Gene PubMed Count',NULL,15270,NULL,NULL,NULL,39,NULL,NULL,NULL),(41573,'NCBI Gene Summary',NULL,15271,NULL,'The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41574,'NCBI Gene PubMed Count',NULL,15271,NULL,NULL,NULL,215,NULL,NULL,NULL),(41575,'NCBI Gene Summary',NULL,15272,NULL,'Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41576,'NCBI Gene PubMed Count',NULL,15272,NULL,NULL,NULL,122,NULL,NULL,NULL),(41577,'NCBI Gene PubMed Count',NULL,15273,NULL,NULL,NULL,30,NULL,NULL,NULL),(41578,'NCBI Gene PubMed Count',NULL,15274,NULL,NULL,NULL,34,NULL,NULL,NULL),(41579,'NCBI Gene Summary',NULL,15275,NULL,'This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(41580,'NCBI Gene PubMed Count',NULL,15275,NULL,NULL,NULL,47,NULL,NULL,NULL),(41581,'NCBI Gene Summary',NULL,15276,NULL,'The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(41582,'NCBI Gene PubMed Count',NULL,15276,NULL,NULL,NULL,365,NULL,NULL,NULL),(41583,'NCBI Gene Summary',NULL,15277,NULL,'This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41584,'NCBI Gene PubMed Count',NULL,15277,NULL,NULL,NULL,984,NULL,NULL,NULL),(41585,'NCBI Gene Summary',NULL,15278,NULL,'The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41586,'NCBI Gene PubMed Count',NULL,15278,NULL,NULL,NULL,20,NULL,NULL,NULL),(41587,'NCBI Gene Summary',NULL,15279,NULL,'This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(41588,'NCBI Gene PubMed Count',NULL,15279,NULL,NULL,NULL,29,NULL,NULL,NULL),(41589,'NCBI Gene Summary',NULL,15280,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands. The encoded protein also plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn\'s disease patients, suggesting that the encoded protein may play a role in autoimmune disease. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(41590,'NCBI Gene PubMed Count',NULL,15280,NULL,NULL,NULL,380,NULL,NULL,NULL),(41591,'NCBI Gene Summary',NULL,15281,NULL,'This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein is implicated in the function of the permability transition pore complex (PTPC), which regulates the release of mitochondrial products that induce apoptosis. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(41592,'NCBI Gene PubMed Count',NULL,15281,NULL,NULL,NULL,44,NULL,NULL,NULL),(41593,'NCBI Gene Summary',NULL,15282,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41594,'NCBI Gene PubMed Count',NULL,15282,NULL,NULL,NULL,805,NULL,NULL,NULL),(41595,'NCBI Gene PubMed Count',NULL,15283,NULL,NULL,NULL,4,NULL,NULL,NULL),(41596,'NCBI Gene Summary',NULL,15284,NULL,'The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(41597,'NCBI Gene PubMed Count',NULL,15284,NULL,NULL,NULL,48,NULL,NULL,NULL),(41598,'NCBI Gene Summary',NULL,15285,NULL,'The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(41599,'NCBI Gene PubMed Count',NULL,15285,NULL,NULL,NULL,756,NULL,NULL,NULL),(41600,'NCBI Gene PubMed Count',NULL,15286,NULL,NULL,NULL,16,NULL,NULL,NULL),(41601,'NCBI Gene PubMed Count',NULL,15287,NULL,NULL,NULL,3,NULL,NULL,NULL),(41602,'NCBI Gene PubMed Count',NULL,15288,NULL,NULL,NULL,8,NULL,NULL,NULL),(41603,'NCBI Gene Summary',NULL,15289,NULL,'This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(41604,'NCBI Gene PubMed Count',NULL,15289,NULL,NULL,NULL,14,NULL,NULL,NULL),(41605,'NCBI Gene Summary',NULL,15290,NULL,'This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(41606,'NCBI Gene PubMed Count',NULL,15290,NULL,NULL,NULL,13,NULL,NULL,NULL),(41607,'NCBI Gene Summary',NULL,15291,NULL,'The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41608,'NCBI Gene PubMed Count',NULL,15291,NULL,NULL,NULL,26,NULL,NULL,NULL),(41609,'NCBI Gene PubMed Count',NULL,15292,NULL,NULL,NULL,12,NULL,NULL,NULL),(41610,'NCBI Gene Summary',NULL,15293,NULL,'The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41611,'NCBI Gene PubMed Count',NULL,15293,NULL,NULL,NULL,12,NULL,NULL,NULL),(41612,'NCBI Gene Summary',NULL,15294,NULL,'The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41613,'NCBI Gene PubMed Count',NULL,15294,NULL,NULL,NULL,41,NULL,NULL,NULL),(41614,'NCBI Gene Summary',NULL,15295,NULL,'The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41615,'NCBI Gene PubMed Count',NULL,15295,NULL,NULL,NULL,30,NULL,NULL,NULL),(41616,'NCBI Gene Summary',NULL,15296,NULL,'Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41617,'NCBI Gene PubMed Count',NULL,15296,NULL,NULL,NULL,31,NULL,NULL,NULL),(41618,'NCBI Gene Summary',NULL,15297,NULL,'The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(41619,'NCBI Gene PubMed Count',NULL,15297,NULL,NULL,NULL,50,NULL,NULL,NULL),(41620,'NCBI Gene Summary',NULL,15298,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41621,'NCBI Gene PubMed Count',NULL,15298,NULL,NULL,NULL,8,NULL,NULL,NULL),(41622,'NCBI Gene Summary',NULL,15299,NULL,'The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(41623,'NCBI Gene PubMed Count',NULL,15299,NULL,NULL,NULL,80,NULL,NULL,NULL),(41624,'NCBI Gene PubMed Count',NULL,15300,NULL,NULL,NULL,5,NULL,NULL,NULL),(41625,'NCBI Gene PubMed Count',NULL,15301,NULL,NULL,NULL,8,NULL,NULL,NULL),(41626,'NCBI Gene PubMed Count',NULL,15302,NULL,NULL,NULL,15,NULL,NULL,NULL),(41627,'NCBI Gene Summary',NULL,15303,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(41628,'NCBI Gene PubMed Count',NULL,15303,NULL,NULL,NULL,34,NULL,NULL,NULL),(41629,'NCBI Gene Summary',NULL,15304,NULL,'This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41630,'NCBI Gene PubMed Count',NULL,15304,NULL,NULL,NULL,88,NULL,NULL,NULL),(41631,'NCBI Gene Summary',NULL,15305,NULL,'This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(41632,'NCBI Gene PubMed Count',NULL,15305,NULL,NULL,NULL,212,NULL,NULL,NULL),(41633,'NCBI Gene Summary',NULL,15306,NULL,'The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5\' UTR of ferritin mRNA, and in the 3\' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(41634,'NCBI Gene PubMed Count',NULL,15306,NULL,NULL,NULL,78,NULL,NULL,NULL),(41635,'NCBI Gene Summary',NULL,15307,NULL,'The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(41636,'NCBI Gene PubMed Count',NULL,15307,NULL,NULL,NULL,28,NULL,NULL,NULL),(41637,'NCBI Gene Summary',NULL,15308,NULL,'The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41638,'NCBI Gene PubMed Count',NULL,15308,NULL,NULL,NULL,40,NULL,NULL,NULL),(41639,'NCBI Gene Summary',NULL,15309,NULL,'This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41640,'NCBI Gene PubMed Count',NULL,15309,NULL,NULL,NULL,53,NULL,NULL,NULL),(41641,'NCBI Gene Summary',NULL,15310,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41642,'NCBI Gene PubMed Count',NULL,15310,NULL,NULL,NULL,78,NULL,NULL,NULL),(41643,'NCBI Gene PubMed Count',NULL,15311,NULL,NULL,NULL,16,NULL,NULL,NULL),(41644,'NCBI Gene Summary',NULL,15312,NULL,'The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41645,'NCBI Gene PubMed Count',NULL,15312,NULL,NULL,NULL,31,NULL,NULL,NULL),(41646,'NCBI Gene Summary',NULL,15313,NULL,'The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. The organ- and cell-specific expression of this gene suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronaviruses SARS and HCoV-NL63. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41647,'NCBI Gene PubMed Count',NULL,15313,NULL,NULL,NULL,251,NULL,NULL,NULL),(41648,'NCBI Gene Summary',NULL,15314,NULL,'Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes.  Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements.  However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41649,'NCBI Gene PubMed Count',NULL,15314,NULL,NULL,NULL,16,NULL,NULL,NULL),(41650,'NCBI Gene Summary',NULL,15315,NULL,'This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(41651,'NCBI Gene PubMed Count',NULL,15315,NULL,NULL,NULL,6,NULL,NULL,NULL),(41652,'NCBI Gene Summary',NULL,15316,NULL,'The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(41653,'NCBI Gene PubMed Count',NULL,15316,NULL,NULL,NULL,24,NULL,NULL,NULL),(41654,'NCBI Gene Summary',NULL,15317,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(41655,'NCBI Gene PubMed Count',NULL,15317,NULL,NULL,NULL,55,NULL,NULL,NULL),(41656,'NCBI Gene PubMed Count',NULL,15318,NULL,NULL,NULL,7,NULL,NULL,NULL),(41657,'NCBI Gene PubMed Count',NULL,15319,NULL,NULL,NULL,5,NULL,NULL,NULL),(41658,'NCBI Gene PubMed Count',NULL,15320,NULL,NULL,NULL,19,NULL,NULL,NULL),(41659,'NCBI Gene PubMed Count',NULL,15321,NULL,NULL,NULL,6,NULL,NULL,NULL),(41660,'NCBI Gene Summary',NULL,15322,NULL,'This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(41661,'NCBI Gene PubMed Count',NULL,15322,NULL,NULL,NULL,26,NULL,NULL,NULL),(41662,'NCBI Gene Summary',NULL,15323,NULL,'This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(41663,'NCBI Gene PubMed Count',NULL,15323,NULL,NULL,NULL,14,NULL,NULL,NULL),(41664,'NCBI Gene Summary',NULL,15324,NULL,'Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(41665,'NCBI Gene PubMed Count',NULL,15324,NULL,NULL,NULL,8,NULL,NULL,NULL),(41666,'NCBI Gene Summary',NULL,15325,NULL,'The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(41667,'NCBI Gene PubMed Count',NULL,15325,NULL,NULL,NULL,162,NULL,NULL,NULL),(41668,'NCBI Gene Summary',NULL,15326,NULL,'The protein encoded by this gene is a mitochondrial acyl-CoA thioesterase of unknown function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(41669,'NCBI Gene PubMed Count',NULL,15326,NULL,NULL,NULL,6,NULL,NULL,NULL),(41670,'NCBI Gene Summary',NULL,15327,NULL,' This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41671,'NCBI Gene PubMed Count',NULL,15327,NULL,NULL,NULL,30,NULL,NULL,NULL),(41672,'NCBI Gene PubMed Count',NULL,15328,NULL,NULL,NULL,11,NULL,NULL,NULL),(41673,'NCBI Gene Summary',NULL,15329,NULL,'This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41674,'NCBI Gene PubMed Count',NULL,15329,NULL,NULL,NULL,38,NULL,NULL,NULL),(41675,'NCBI Gene Summary',NULL,15330,NULL,'The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(41676,'NCBI Gene PubMed Count',NULL,15330,NULL,NULL,NULL,19,NULL,NULL,NULL),(41677,'NCBI Gene Summary',NULL,15331,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41678,'NCBI Gene PubMed Count',NULL,15331,NULL,NULL,NULL,105,NULL,NULL,NULL),(41679,'NCBI Gene Summary',NULL,15332,NULL,'Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(41680,'NCBI Gene PubMed Count',NULL,15332,NULL,NULL,NULL,37,NULL,NULL,NULL),(41681,'NCBI Gene Summary',NULL,15333,NULL,'The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(41682,'NCBI Gene PubMed Count',NULL,15333,NULL,NULL,NULL,25,NULL,NULL,NULL),(41683,'NCBI Gene Summary',NULL,15334,NULL,'This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(41684,'NCBI Gene PubMed Count',NULL,15334,NULL,NULL,NULL,15,NULL,NULL,NULL),(41685,'NCBI Gene Summary',NULL,15335,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41686,'NCBI Gene PubMed Count',NULL,15335,NULL,NULL,NULL,10,NULL,NULL,NULL),(41687,'NCBI Gene Summary',NULL,15336,NULL,'Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(41688,'NCBI Gene PubMed Count',NULL,15336,NULL,NULL,NULL,37,NULL,NULL,NULL),(41689,'NCBI Gene PubMed Count',NULL,15337,NULL,NULL,NULL,7,NULL,NULL,NULL),(41690,'NCBI Gene PubMed Count',NULL,15338,NULL,NULL,NULL,4,NULL,NULL,NULL),(41691,'NCBI Gene Summary',NULL,15339,NULL,'The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41692,'NCBI Gene PubMed Count',NULL,15339,NULL,NULL,NULL,45,NULL,NULL,NULL),(41693,'NCBI Gene PubMed Count',NULL,15340,NULL,NULL,NULL,6,NULL,NULL,NULL),(41694,'NCBI Gene Summary',NULL,15341,NULL,'This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(41695,'NCBI Gene PubMed Count',NULL,15341,NULL,NULL,NULL,14,NULL,NULL,NULL),(41696,'NCBI Gene Summary',NULL,15342,NULL,' Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis.  ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria.  ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis.  There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41697,'NCBI Gene PubMed Count',NULL,15342,NULL,NULL,NULL,57,NULL,NULL,NULL),(41698,'NCBI Gene PubMed Count',NULL,15343,NULL,NULL,NULL,17,NULL,NULL,NULL),(41699,'NCBI Gene Summary',NULL,15344,NULL,'This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(41700,'NCBI Gene PubMed Count',NULL,15344,NULL,NULL,NULL,23,NULL,NULL,NULL),(41701,'NCBI Gene Summary',NULL,15345,NULL,'The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(41702,'NCBI Gene PubMed Count',NULL,15345,NULL,NULL,NULL,65,NULL,NULL,NULL),(41703,'NCBI Gene PubMed Count',NULL,15346,NULL,NULL,NULL,5,NULL,NULL,NULL),(41704,'NCBI Gene PubMed Count',NULL,15347,NULL,NULL,NULL,6,NULL,NULL,NULL),(41705,'NCBI Gene PubMed Count',NULL,15348,NULL,NULL,NULL,5,NULL,NULL,NULL),(41706,'NCBI Gene Summary',NULL,15349,NULL,'This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(41707,'NCBI Gene PubMed Count',NULL,15349,NULL,NULL,NULL,52,NULL,NULL,NULL),(41708,'NCBI Gene PubMed Count',NULL,15350,NULL,NULL,NULL,7,NULL,NULL,NULL),(41709,'NCBI Gene Summary',NULL,15351,NULL,'This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene catalyzes site-specific deamination of both RNA and single-stranded DNA. The encoded protein has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(41710,'NCBI Gene PubMed Count',NULL,15351,NULL,NULL,NULL,372,NULL,NULL,NULL),(41711,'NCBI Gene Summary',NULL,15352,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(41712,'NCBI Gene PubMed Count',NULL,15352,NULL,NULL,NULL,26,NULL,NULL,NULL),(41713,'NCBI Gene Summary',NULL,15353,NULL,'The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41714,'NCBI Gene PubMed Count',NULL,15353,NULL,NULL,NULL,40,NULL,NULL,NULL),(41715,'NCBI Gene Summary',NULL,15354,NULL,'This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(41716,'NCBI Gene PubMed Count',NULL,15354,NULL,NULL,NULL,37,NULL,NULL,NULL),(41717,'NCBI Gene Summary',NULL,15355,NULL,'The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41718,'NCBI Gene PubMed Count',NULL,15355,NULL,NULL,NULL,37,NULL,NULL,NULL),(41719,'NCBI Gene PubMed Count',NULL,15356,NULL,NULL,NULL,21,NULL,NULL,NULL),(41720,'NCBI Gene Summary',NULL,15357,NULL,'Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41721,'NCBI Gene PubMed Count',NULL,15357,NULL,NULL,NULL,106,NULL,NULL,NULL),(41722,'NCBI Gene Summary',NULL,15358,NULL,'Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(41723,'NCBI Gene PubMed Count',NULL,15358,NULL,NULL,NULL,131,NULL,NULL,NULL),(41724,'NCBI Gene Summary',NULL,15359,NULL,'The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41725,'NCBI Gene PubMed Count',NULL,15359,NULL,NULL,NULL,37,NULL,NULL,NULL),(41726,'NCBI Gene Summary',NULL,15360,NULL,'This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(41727,'NCBI Gene PubMed Count',NULL,15360,NULL,NULL,NULL,126,NULL,NULL,NULL),(41728,'NCBI Gene PubMed Count',NULL,15361,NULL,NULL,NULL,2,NULL,NULL,NULL),(41729,'NCBI Gene Summary',NULL,15362,NULL,'This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. This gene is predominantly expressed in the testis. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(41730,'NCBI Gene PubMed Count',NULL,15362,NULL,NULL,NULL,7,NULL,NULL,NULL),(41731,'NCBI Gene Summary',NULL,15363,NULL,'This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41732,'NCBI Gene PubMed Count',NULL,15363,NULL,NULL,NULL,32,NULL,NULL,NULL),(41733,'NCBI Gene Summary',NULL,15364,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41734,'NCBI Gene PubMed Count',NULL,15364,NULL,NULL,NULL,1240,NULL,NULL,NULL),(41735,'NCBI Gene Summary',NULL,15365,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41736,'NCBI Gene PubMed Count',NULL,15365,NULL,NULL,NULL,1815,NULL,NULL,NULL),(41737,'NCBI Gene Summary',NULL,15366,NULL,'The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41738,'NCBI Gene PubMed Count',NULL,15366,NULL,NULL,NULL,59,NULL,NULL,NULL),(41739,'NCBI Gene PubMed Count',NULL,15367,NULL,NULL,NULL,9,NULL,NULL,NULL),(41740,'NCBI Gene Summary',NULL,15368,NULL,'This locus encodes a 5-hydroxytryptamine (serotonin) receptor subunit. The encoded protein, subunit E, may play a role in neurotransmission in myenteric neurons. Genes encoding subunits C, D and E form a cluster on chromosome 3. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(41741,'NCBI Gene PubMed Count',NULL,15368,NULL,NULL,NULL,17,NULL,NULL,NULL),(41742,'NCBI Gene Summary',NULL,15369,NULL,'This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(41743,'NCBI Gene PubMed Count',NULL,15369,NULL,NULL,NULL,90,NULL,NULL,NULL),(41744,'NCBI Gene Summary',NULL,15370,NULL,'Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A rare single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Dec 2018]',NULL,NULL,NULL,NULL,NULL),(41745,'NCBI Gene PubMed Count',NULL,15370,NULL,NULL,NULL,94,NULL,NULL,NULL),(41746,'NCBI Gene Summary',NULL,15371,NULL,'This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41747,'NCBI Gene PubMed Count',NULL,15371,NULL,NULL,NULL,9,NULL,NULL,NULL),(41748,'NCBI Gene Summary',NULL,15372,NULL,'The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41749,'NCBI Gene PubMed Count',NULL,15372,NULL,NULL,NULL,62,NULL,NULL,NULL),(41750,'NCBI Gene Summary',NULL,15373,NULL,'The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41751,'NCBI Gene PubMed Count',NULL,15373,NULL,NULL,NULL,56,NULL,NULL,NULL),(41752,'NCBI Gene Summary',NULL,15374,NULL,'This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(41753,'NCBI Gene PubMed Count',NULL,15374,NULL,NULL,NULL,19,NULL,NULL,NULL),(41754,'NCBI Gene Summary',NULL,15375,NULL,'This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41755,'NCBI Gene PubMed Count',NULL,15375,NULL,NULL,NULL,61,NULL,NULL,NULL),(41756,'NCBI Gene Summary',NULL,15376,NULL,'This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41757,'NCBI Gene PubMed Count',NULL,15376,NULL,NULL,NULL,8,NULL,NULL,NULL),(41758,'NCBI Gene PubMed Count',NULL,15377,NULL,NULL,NULL,23,NULL,NULL,NULL),(41759,'NCBI Gene Summary',NULL,15378,NULL,'Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41760,'NCBI Gene PubMed Count',NULL,15378,NULL,NULL,NULL,23,NULL,NULL,NULL),(41761,'NCBI Gene Summary',NULL,15379,NULL,'The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41762,'NCBI Gene PubMed Count',NULL,15379,NULL,NULL,NULL,140,NULL,NULL,NULL),(41763,'NCBI Gene Summary',NULL,15380,NULL,'This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(41764,'NCBI Gene PubMed Count',NULL,15380,NULL,NULL,NULL,75,NULL,NULL,NULL),(41765,'NCBI Gene Summary',NULL,15381,NULL,'This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41766,'NCBI Gene PubMed Count',NULL,15381,NULL,NULL,NULL,76,NULL,NULL,NULL),(41767,'NCBI Gene Summary',NULL,15382,NULL,'Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41768,'NCBI Gene PubMed Count',NULL,15382,NULL,NULL,NULL,113,NULL,NULL,NULL),(41769,'NCBI Gene PubMed Count',NULL,15383,NULL,NULL,NULL,17,NULL,NULL,NULL),(41770,'NCBI Gene Summary',NULL,15384,NULL,'This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(41771,'NCBI Gene PubMed Count',NULL,15384,NULL,NULL,NULL,128,NULL,NULL,NULL),(41772,'NCBI Gene Summary',NULL,15385,NULL,'This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4\'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(41773,'NCBI Gene PubMed Count',NULL,15385,NULL,NULL,NULL,7,NULL,NULL,NULL),(41774,'NCBI Gene PubMed Count',NULL,15386,NULL,NULL,NULL,7,NULL,NULL,NULL),(41775,'NCBI Gene Summary',NULL,15387,NULL,'Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41776,'NCBI Gene PubMed Count',NULL,15387,NULL,NULL,NULL,93,NULL,NULL,NULL),(41777,'NCBI Gene Summary',NULL,15388,NULL,'This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(41778,'NCBI Gene PubMed Count',NULL,15388,NULL,NULL,NULL,53,NULL,NULL,NULL),(41779,'NCBI Gene Summary',NULL,15389,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41780,'NCBI Gene PubMed Count',NULL,15389,NULL,NULL,NULL,9,NULL,NULL,NULL),(41781,'NCBI Gene Summary',NULL,15390,NULL,'Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41782,'NCBI Gene PubMed Count',NULL,15390,NULL,NULL,NULL,42,NULL,NULL,NULL),(41783,'NCBI Gene PubMed Count',NULL,15391,NULL,NULL,NULL,4,NULL,NULL,NULL),(41784,'NCBI Gene Summary',NULL,15392,NULL,'This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(41785,'NCBI Gene PubMed Count',NULL,15392,NULL,NULL,NULL,63,NULL,NULL,NULL),(41786,'NCBI Gene Summary',NULL,15393,NULL,'This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41787,'NCBI Gene PubMed Count',NULL,15393,NULL,NULL,NULL,113,NULL,NULL,NULL),(41788,'NCBI Gene Summary',NULL,15394,NULL,'The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41789,'NCBI Gene PubMed Count',NULL,15394,NULL,NULL,NULL,23,NULL,NULL,NULL),(41790,'NCBI Gene PubMed Count',NULL,15395,NULL,NULL,NULL,4,NULL,NULL,NULL),(41791,'NCBI Gene PubMed Count',NULL,15396,NULL,NULL,NULL,2,NULL,NULL,NULL),(41792,'NCBI Gene PubMed Count',NULL,15397,NULL,NULL,NULL,5,NULL,NULL,NULL),(41793,'NCBI Gene Summary',NULL,15398,NULL,'This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41794,'NCBI Gene PubMed Count',NULL,15398,NULL,NULL,NULL,10,NULL,NULL,NULL),(41795,'NCBI Gene PubMed Count',NULL,15399,NULL,NULL,NULL,11,NULL,NULL,NULL),(41796,'NCBI Gene Summary',NULL,15400,NULL,'This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(41797,'NCBI Gene PubMed Count',NULL,15400,NULL,NULL,NULL,25,NULL,NULL,NULL),(41798,'NCBI Gene Summary',NULL,15401,NULL,'This gene encodes a peptide that functions as an endogenous ligand for the G-protein coupled apelin receptor. The encoded preproprotein is proteolytically processed into biologically active C-terminal peptide fragments. These peptide fragments activate different tissue specific signaling pathways that regulate diverse biological functions including fluid homeostasis, cardiovascular function and insulin secretion. This protein also functions as a coreceptor for the human immunodeficiency virus 1. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(41799,'NCBI Gene PubMed Count',NULL,15401,NULL,NULL,NULL,219,NULL,NULL,NULL),(41800,'NCBI Gene Summary',NULL,15402,NULL,'This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(41801,'NCBI Gene PubMed Count',NULL,15402,NULL,NULL,NULL,57,NULL,NULL,NULL),(41802,'NCBI Gene PubMed Count',NULL,15403,NULL,NULL,NULL,16,NULL,NULL,NULL),(41803,'NCBI Gene Summary',NULL,15404,NULL,'The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(41804,'NCBI Gene PubMed Count',NULL,15404,NULL,NULL,NULL,17,NULL,NULL,NULL),(41805,'NCBI Gene Summary',NULL,15405,NULL,'Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(41806,'NCBI Gene PubMed Count',NULL,15405,NULL,NULL,NULL,90,NULL,NULL,NULL),(41807,'NCBI Gene Summary',NULL,15406,NULL,'Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41808,'NCBI Gene PubMed Count',NULL,15406,NULL,NULL,NULL,12,NULL,NULL,NULL),(41809,'NCBI Gene Summary',NULL,15407,NULL,'The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repeats, and the other with 10 ankyrin repeats. It also contains a nuclear export signal, nuclear localization signal, and a cyclin-binding RXL motif. Localization of this protein to the nucleus has been shown experimentally, and interactions between this protein and cyclin-dependent kinase 2 have been observed. It has been suggested that this protein plays a role in both DNA replication and in both anti-viral and anti-bacterial innate immune pathways. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(41810,'NCBI Gene PubMed Count',NULL,15407,NULL,NULL,NULL,23,NULL,NULL,NULL),(41811,'NCBI Gene PubMed Count',NULL,15408,NULL,NULL,NULL,9,NULL,NULL,NULL),(41812,'NCBI Gene PubMed Count',NULL,15409,NULL,NULL,NULL,3,NULL,NULL,NULL),(41813,'NCBI Gene PubMed Count',NULL,15410,NULL,NULL,NULL,34,NULL,NULL,NULL),(41814,'NCBI Gene PubMed Count',NULL,15411,NULL,NULL,NULL,5,NULL,NULL,NULL),(41815,'NCBI Gene PubMed Count',NULL,15412,NULL,NULL,NULL,13,NULL,NULL,NULL),(41816,'NCBI Gene Summary',NULL,15413,NULL,'The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(41817,'NCBI Gene PubMed Count',NULL,15413,NULL,NULL,NULL,18,NULL,NULL,NULL),(41818,'NCBI Gene Summary',NULL,15414,NULL,'This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41819,'NCBI Gene PubMed Count',NULL,15414,NULL,NULL,NULL,730,NULL,NULL,NULL),(41820,'NCBI Gene Summary',NULL,15415,NULL,'This gene encodes a member of the annexin family.  Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways.  This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41821,'NCBI Gene PubMed Count',NULL,15415,NULL,NULL,NULL,59,NULL,NULL,NULL),(41822,'NCBI Gene Summary',NULL,15416,NULL,'This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(41823,'NCBI Gene PubMed Count',NULL,15416,NULL,NULL,NULL,35,NULL,NULL,NULL),(41824,'NCBI Gene Summary',NULL,15417,NULL,'The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(41825,'NCBI Gene PubMed Count',NULL,15417,NULL,NULL,NULL,413,NULL,NULL,NULL),(41826,'NCBI Gene Summary',NULL,15418,NULL,'Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41827,'NCBI Gene PubMed Count',NULL,15418,NULL,NULL,NULL,10,NULL,NULL,NULL),(41828,'NCBI Gene Summary',NULL,15419,NULL,'This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(41829,'NCBI Gene PubMed Count',NULL,15419,NULL,NULL,NULL,17,NULL,NULL,NULL),(41830,'NCBI Gene PubMed Count',NULL,15420,NULL,NULL,NULL,2,NULL,NULL,NULL),(41831,'NCBI Gene PubMed Count',NULL,15421,NULL,NULL,NULL,5,NULL,NULL,NULL),(41832,'NCBI Gene Summary',NULL,15422,NULL,'The protein encoded by this gene is a zinc metalloprotease that displays some activity against angiotensin-3. The encoded protein is inhibited by the aminopeptidase inhibitor amastatin, as well as by the general inhibitors o-phenanthroline and batimastat. Defects in this gene may be associated with lung tumorigenesis. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(41833,'NCBI Gene PubMed Count',NULL,15422,NULL,NULL,NULL,8,NULL,NULL,NULL),(41834,'NCBI Gene Summary',NULL,15423,NULL,'Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(41835,'NCBI Gene PubMed Count',NULL,15423,NULL,NULL,NULL,87,NULL,NULL,NULL),(41836,'NCBI Gene PubMed Count',NULL,15424,NULL,NULL,NULL,9,NULL,NULL,NULL),(41837,'NCBI Gene PubMed Count',NULL,15425,NULL,NULL,NULL,4,NULL,NULL,NULL),(41838,'NCBI Gene Summary',NULL,15426,NULL,'ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(41839,'NCBI Gene PubMed Count',NULL,15426,NULL,NULL,NULL,24,NULL,NULL,NULL),(41840,'NCBI Gene PubMed Count',NULL,15427,NULL,NULL,NULL,6,NULL,NULL,NULL),(41841,'NCBI Gene Summary',NULL,15428,NULL,'This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41842,'NCBI Gene PubMed Count',NULL,15428,NULL,NULL,NULL,62,NULL,NULL,NULL),(41843,'NCBI Gene Summary',NULL,15429,NULL,'This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(41844,'NCBI Gene PubMed Count',NULL,15429,NULL,NULL,NULL,25,NULL,NULL,NULL),(41845,'NCBI Gene PubMed Count',NULL,15430,NULL,NULL,NULL,36,NULL,NULL,NULL),(41846,'NCBI Gene PubMed Count',NULL,15431,NULL,NULL,NULL,30,NULL,NULL,NULL),(41847,'NCBI Gene Summary',NULL,15432,NULL,'The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41848,'NCBI Gene PubMed Count',NULL,15432,NULL,NULL,NULL,183,NULL,NULL,NULL),(41849,'NCBI Gene Summary',NULL,15433,NULL,'This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(41850,'NCBI Gene PubMed Count',NULL,15433,NULL,NULL,NULL,930,NULL,NULL,NULL),(41851,'NCBI Gene Summary',NULL,15434,NULL,'This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]',NULL,NULL,NULL,NULL,NULL),(41852,'NCBI Gene PubMed Count',NULL,15434,NULL,NULL,NULL,278,NULL,NULL,NULL),(41853,'NCBI Gene Summary',NULL,15435,NULL,'ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41854,'NCBI Gene PubMed Count',NULL,15435,NULL,NULL,NULL,27,NULL,NULL,NULL),(41855,'NCBI Gene Summary',NULL,15436,NULL,'This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(41856,'NCBI Gene PubMed Count',NULL,15436,NULL,NULL,NULL,13,NULL,NULL,NULL),(41857,'NCBI Gene PubMed Count',NULL,15437,NULL,NULL,NULL,9,NULL,NULL,NULL),(41858,'NCBI Gene PubMed Count',NULL,15438,NULL,NULL,NULL,6,NULL,NULL,NULL),(41859,'NCBI Gene Summary',NULL,15439,NULL,'This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(41860,'NCBI Gene PubMed Count',NULL,15439,NULL,NULL,NULL,12,NULL,NULL,NULL),(41861,'NCBI Gene PubMed Count',NULL,15440,NULL,NULL,NULL,7,NULL,NULL,NULL),(41862,'NCBI Gene Summary',NULL,15441,NULL,'The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41863,'NCBI Gene PubMed Count',NULL,15441,NULL,NULL,NULL,43,NULL,NULL,NULL),(41864,'NCBI Gene PubMed Count',NULL,15442,NULL,NULL,NULL,10,NULL,NULL,NULL),(41865,'NCBI Gene PubMed Count',NULL,15443,NULL,NULL,NULL,7,NULL,NULL,NULL),(41866,'NCBI Gene Summary',NULL,15444,NULL,'This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(41867,'NCBI Gene PubMed Count',NULL,15444,NULL,NULL,NULL,16,NULL,NULL,NULL),(41868,'NCBI Gene Summary',NULL,15445,NULL,'This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(41869,'NCBI Gene PubMed Count',NULL,15445,NULL,NULL,NULL,88,NULL,NULL,NULL),(41870,'NCBI Gene Summary',NULL,15446,NULL,'This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer\'s disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(41871,'NCBI Gene PubMed Count',NULL,15446,NULL,NULL,NULL,55,NULL,NULL,NULL),(41872,'NCBI Gene Summary',NULL,15447,NULL,'Aquaporin 5 (AQP5) is a water channel protein.  Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41873,'NCBI Gene PubMed Count',NULL,15447,NULL,NULL,NULL,143,NULL,NULL,NULL),(41874,'NCBI Gene Summary',NULL,15448,NULL,'This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41875,'NCBI Gene PubMed Count',NULL,15448,NULL,NULL,NULL,61,NULL,NULL,NULL),(41876,'NCBI Gene PubMed Count',NULL,15449,NULL,NULL,NULL,64,NULL,NULL,NULL),(41877,'NCBI Gene Summary',NULL,15450,NULL,'This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(41878,'NCBI Gene PubMed Count',NULL,15450,NULL,NULL,NULL,97,NULL,NULL,NULL),(41879,'NCBI Gene PubMed Count',NULL,15451,NULL,NULL,NULL,7,NULL,NULL,NULL),(41880,'NCBI Gene PubMed Count',NULL,15452,NULL,NULL,NULL,19,NULL,NULL,NULL),(41881,'NCBI Gene Summary',NULL,15453,NULL,'The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(41882,'NCBI Gene PubMed Count',NULL,15453,NULL,NULL,NULL,27,NULL,NULL,NULL),(41883,'NCBI Gene Summary',NULL,15454,NULL,'This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41884,'NCBI Gene PubMed Count',NULL,15454,NULL,NULL,NULL,23,NULL,NULL,NULL),(41885,'NCBI Gene Summary',NULL,15455,NULL,'The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41886,'NCBI Gene PubMed Count',NULL,15455,NULL,NULL,NULL,22,NULL,NULL,NULL),(41887,'NCBI Gene PubMed Count',NULL,15456,NULL,NULL,NULL,8,NULL,NULL,NULL),(41888,'NCBI Gene PubMed Count',NULL,15457,NULL,NULL,NULL,4,NULL,NULL,NULL),(41889,'NCBI Gene Summary',NULL,15458,NULL,'Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(41890,'NCBI Gene PubMed Count',NULL,15458,NULL,NULL,NULL,20,NULL,NULL,NULL),(41891,'NCBI Gene PubMed Count',NULL,15459,NULL,NULL,NULL,5,NULL,NULL,NULL),(41892,'NCBI Gene Summary',NULL,15460,NULL,'One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(41893,'NCBI Gene PubMed Count',NULL,15460,NULL,NULL,NULL,26,NULL,NULL,NULL),(41894,'NCBI Gene Summary',NULL,15461,NULL,'The protein encoded by this gene is a transcription factor that binds the consensus sequence 5\'-GCCNNNGGC-3\'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(41895,'NCBI Gene PubMed Count',NULL,15461,NULL,NULL,NULL,179,NULL,NULL,NULL),(41896,'NCBI Gene PubMed Count',NULL,15462,NULL,NULL,NULL,12,NULL,NULL,NULL),(41897,'NCBI Gene Summary',NULL,15463,NULL,'This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(41898,'NCBI Gene PubMed Count',NULL,15463,NULL,NULL,NULL,12,NULL,NULL,NULL),(41899,'NCBI Gene Summary',NULL,15464,NULL,'This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer\'s disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(41900,'NCBI Gene PubMed Count',NULL,15464,NULL,NULL,NULL,64,NULL,NULL,NULL),(41901,'NCBI Gene Summary',NULL,15465,NULL,'The protein encoded by this gene is a member of the apolipoprotein L family and may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Two transcript variants encoding two different isoforms have been found for this gene. Only one of the isoforms appears to be a secreted protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41902,'NCBI Gene PubMed Count',NULL,15465,NULL,NULL,NULL,11,NULL,NULL,NULL),(41903,'NCBI Gene PubMed Count',NULL,15466,NULL,NULL,NULL,3,NULL,NULL,NULL),(41904,'NCBI Gene PubMed Count',NULL,15467,NULL,NULL,NULL,21,NULL,NULL,NULL),(41905,'NCBI Gene PubMed Count',NULL,15468,NULL,NULL,NULL,26,NULL,NULL,NULL),(41906,'NCBI Gene Summary',NULL,15469,NULL,'A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41907,'NCBI Gene PubMed Count',NULL,15469,NULL,NULL,NULL,33,NULL,NULL,NULL),(41908,'NCBI Gene PubMed Count',NULL,15470,NULL,NULL,NULL,20,NULL,NULL,NULL),(41909,'NCBI Gene Summary',NULL,15471,NULL,'This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41910,'NCBI Gene PubMed Count',NULL,15471,NULL,NULL,NULL,39,NULL,NULL,NULL),(41911,'NCBI Gene PubMed Count',NULL,15472,NULL,NULL,NULL,0,NULL,NULL,NULL),(41912,'NCBI Gene Summary',NULL,15473,NULL,'This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(41913,'NCBI Gene PubMed Count',NULL,15473,NULL,NULL,NULL,49,NULL,NULL,NULL),(41914,'NCBI Gene Summary',NULL,15474,NULL,'This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(41915,'NCBI Gene PubMed Count',NULL,15474,NULL,NULL,NULL,3,NULL,NULL,NULL),(41916,'NCBI Gene PubMed Count',NULL,15475,NULL,NULL,NULL,5,NULL,NULL,NULL),(41917,'NCBI Gene Summary',NULL,15476,NULL,'This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(41918,'NCBI Gene PubMed Count',NULL,15476,NULL,NULL,NULL,58,NULL,NULL,NULL),(41919,'NCBI Gene Summary',NULL,15477,NULL,'This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer\'s disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(41920,'NCBI Gene PubMed Count',NULL,15477,NULL,NULL,NULL,32,NULL,NULL,NULL),(41921,'NCBI Gene Summary',NULL,15478,NULL,'This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(41922,'NCBI Gene PubMed Count',NULL,15478,NULL,NULL,NULL,12,NULL,NULL,NULL),(41923,'NCBI Gene PubMed Count',NULL,15479,NULL,NULL,NULL,14,NULL,NULL,NULL),(41924,'NCBI Gene Summary',NULL,15480,NULL,'This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(41925,'NCBI Gene PubMed Count',NULL,15480,NULL,NULL,NULL,31,NULL,NULL,NULL),(41926,'NCBI Gene PubMed Count',NULL,15481,NULL,NULL,NULL,5,NULL,NULL,NULL),(41927,'NCBI Gene PubMed Count',NULL,15482,NULL,NULL,NULL,7,NULL,NULL,NULL),(41928,'NCBI Gene Summary',NULL,15483,NULL,'ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(41929,'NCBI Gene PubMed Count',NULL,15483,NULL,NULL,NULL,27,NULL,NULL,NULL),(41930,'NCBI Gene Summary',NULL,15484,NULL,'This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41931,'NCBI Gene PubMed Count',NULL,15484,NULL,NULL,NULL,15,NULL,NULL,NULL),(41932,'NCBI Gene Summary',NULL,15485,NULL,'This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41933,'NCBI Gene PubMed Count',NULL,15485,NULL,NULL,NULL,16,NULL,NULL,NULL),(41934,'NCBI Gene Summary',NULL,15486,NULL,'Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5\' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41935,'NCBI Gene PubMed Count',NULL,15486,NULL,NULL,NULL,536,NULL,NULL,NULL),(41936,'NCBI Gene Summary',NULL,15487,NULL,'This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41937,'NCBI Gene PubMed Count',NULL,15487,NULL,NULL,NULL,754,NULL,NULL,NULL),(41938,'NCBI Gene PubMed Count',NULL,15488,NULL,NULL,NULL,6,NULL,NULL,NULL),(41939,'NCBI Gene Summary',NULL,15489,NULL,'This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(41940,'NCBI Gene PubMed Count',NULL,15489,NULL,NULL,NULL,24,NULL,NULL,NULL),(41941,'NCBI Gene Summary',NULL,15490,NULL,'Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies.  APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41942,'NCBI Gene PubMed Count',NULL,15490,NULL,NULL,NULL,226,NULL,NULL,NULL),(41943,'NCBI Gene PubMed Count',NULL,15491,NULL,NULL,NULL,4,NULL,NULL,NULL),(41944,'NCBI Gene PubMed Count',NULL,15492,NULL,NULL,NULL,2,NULL,NULL,NULL),(41945,'NCBI Gene Summary',NULL,15493,NULL,'This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(41946,'NCBI Gene PubMed Count',NULL,15493,NULL,NULL,NULL,46,NULL,NULL,NULL),(41947,'NCBI Gene PubMed Count',NULL,15494,NULL,NULL,NULL,23,NULL,NULL,NULL),(41948,'NCBI Gene PubMed Count',NULL,15495,NULL,NULL,NULL,19,NULL,NULL,NULL),(41949,'NCBI Gene Summary',NULL,15496,NULL,'This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(41950,'NCBI Gene PubMed Count',NULL,15496,NULL,NULL,NULL,60,NULL,NULL,NULL),(41951,'NCBI Gene Summary',NULL,15497,NULL,'This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein\'s biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(41952,'NCBI Gene PubMed Count',NULL,15497,NULL,NULL,NULL,973,NULL,NULL,NULL),(41953,'NCBI Gene Summary',NULL,15498,NULL,'This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(41954,'NCBI Gene PubMed Count',NULL,15498,NULL,NULL,NULL,28,NULL,NULL,NULL),(41955,'NCBI Gene Summary',NULL,15499,NULL,'This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(41956,'NCBI Gene PubMed Count',NULL,15499,NULL,NULL,NULL,11,NULL,NULL,NULL),(41957,'NCBI Gene Summary',NULL,15500,NULL,'The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(41958,'NCBI Gene PubMed Count',NULL,15500,NULL,NULL,NULL,35,NULL,NULL,NULL),(41959,'NCBI Gene Summary',NULL,15501,NULL,'The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41960,'NCBI Gene PubMed Count',NULL,15501,NULL,NULL,NULL,40,NULL,NULL,NULL),(41961,'NCBI Gene Summary',NULL,15502,NULL,'This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41962,'NCBI Gene PubMed Count',NULL,15502,NULL,NULL,NULL,55,NULL,NULL,NULL),(41963,'NCBI Gene Summary',NULL,15503,NULL,'This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(41964,'NCBI Gene PubMed Count',NULL,15503,NULL,NULL,NULL,13,NULL,NULL,NULL),(41965,'NCBI Gene Summary',NULL,15504,NULL,'The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer\'s disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer\'s disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41966,'NCBI Gene PubMed Count',NULL,15504,NULL,NULL,NULL,49,NULL,NULL,NULL),(41967,'NCBI Gene Summary',NULL,15505,NULL,'This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41968,'NCBI Gene PubMed Count',NULL,15505,NULL,NULL,NULL,80,NULL,NULL,NULL),(41969,'NCBI Gene Summary',NULL,15506,NULL,'This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(41970,'NCBI Gene PubMed Count',NULL,15506,NULL,NULL,NULL,31,NULL,NULL,NULL),(41971,'NCBI Gene Summary',NULL,15507,NULL,'This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(41972,'NCBI Gene PubMed Count',NULL,15507,NULL,NULL,NULL,77,NULL,NULL,NULL),(41973,'NCBI Gene Summary',NULL,15508,NULL,'The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integral membrane proteins that bind specifically to Lys-63-linked ubiquitin chains on membrane-bound proteins, targeting those proteins for rapid internalization. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(41974,'NCBI Gene PubMed Count',NULL,15508,NULL,NULL,NULL,9,NULL,NULL,NULL),(41975,'NCBI Gene PubMed Count',NULL,15509,NULL,NULL,NULL,1,NULL,NULL,NULL),(41976,'NCBI Gene PubMed Count',NULL,15510,NULL,NULL,NULL,3,NULL,NULL,NULL),(41977,'NCBI Gene PubMed Count',NULL,15511,NULL,NULL,NULL,35,NULL,NULL,NULL),(41978,'NCBI Gene PubMed Count',NULL,15512,NULL,NULL,NULL,21,NULL,NULL,NULL),(41979,'NCBI Gene Summary',NULL,15513,NULL,'This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(41980,'NCBI Gene PubMed Count',NULL,15513,NULL,NULL,NULL,87,NULL,NULL,NULL),(41981,'NCBI Gene Summary',NULL,15514,NULL,'This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(41982,'NCBI Gene PubMed Count',NULL,15514,NULL,NULL,NULL,20,NULL,NULL,NULL),(41983,'NCBI Gene Summary',NULL,15515,NULL,'This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41984,'NCBI Gene PubMed Count',NULL,15515,NULL,NULL,NULL,388,NULL,NULL,NULL),(41985,'NCBI Gene Summary',NULL,15516,NULL,'This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(41986,'NCBI Gene PubMed Count',NULL,15516,NULL,NULL,NULL,17,NULL,NULL,NULL),(41987,'NCBI Gene Summary',NULL,15517,NULL,'APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(41988,'NCBI Gene PubMed Count',NULL,15517,NULL,NULL,NULL,13,NULL,NULL,NULL),(41989,'NCBI Gene Summary',NULL,15518,NULL,'This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(41990,'NCBI Gene PubMed Count',NULL,15518,NULL,NULL,NULL,90,NULL,NULL,NULL),(41991,'NCBI Gene Summary',NULL,15519,NULL,'This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(41992,'NCBI Gene PubMed Count',NULL,15519,NULL,NULL,NULL,44,NULL,NULL,NULL),(41993,'NCBI Gene Summary',NULL,15520,NULL,'This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(41994,'NCBI Gene PubMed Count',NULL,15520,NULL,NULL,NULL,18,NULL,NULL,NULL),(41995,'NCBI Gene Summary',NULL,15521,NULL,'This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41996,'NCBI Gene PubMed Count',NULL,15521,NULL,NULL,NULL,7,NULL,NULL,NULL),(41997,'NCBI Gene Summary',NULL,15522,NULL,'The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer\'s disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(41998,'NCBI Gene PubMed Count',NULL,15522,NULL,NULL,NULL,13,NULL,NULL,NULL),(41999,'NCBI Gene PubMed Count',NULL,15523,NULL,NULL,NULL,2,NULL,NULL,NULL),(42000,'NCBI Gene Summary',NULL,15524,NULL,'This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42001,'NCBI Gene PubMed Count',NULL,15524,NULL,NULL,NULL,22,NULL,NULL,NULL),(42002,'NCBI Gene PubMed Count',NULL,15525,NULL,NULL,NULL,13,NULL,NULL,NULL),(42003,'NCBI Gene PubMed Count',NULL,15526,NULL,NULL,NULL,6,NULL,NULL,NULL),(42004,'NCBI Gene PubMed Count',NULL,15527,NULL,NULL,NULL,12,NULL,NULL,NULL),(42005,'NCBI Gene PubMed Count',NULL,15528,NULL,NULL,NULL,2,NULL,NULL,NULL),(42006,'NCBI Gene PubMed Count',NULL,15529,NULL,NULL,NULL,10,NULL,NULL,NULL),(42007,'NCBI Gene Summary',NULL,15530,NULL,'This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42008,'NCBI Gene PubMed Count',NULL,15530,NULL,NULL,NULL,20,NULL,NULL,NULL),(42009,'NCBI Gene Summary',NULL,15531,NULL,'This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(42010,'NCBI Gene PubMed Count',NULL,15531,NULL,NULL,NULL,9,NULL,NULL,NULL),(42011,'NCBI Gene PubMed Count',NULL,15532,NULL,NULL,NULL,7,NULL,NULL,NULL),(42012,'NCBI Gene Summary',NULL,15533,NULL,'This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(42013,'NCBI Gene PubMed Count',NULL,15533,NULL,NULL,NULL,11,NULL,NULL,NULL),(42014,'NCBI Gene Summary',NULL,15534,NULL,'Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(42015,'NCBI Gene PubMed Count',NULL,15534,NULL,NULL,NULL,11,NULL,NULL,NULL),(42016,'NCBI Gene Summary',NULL,15535,NULL,'The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42017,'NCBI Gene PubMed Count',NULL,15535,NULL,NULL,NULL,28,NULL,NULL,NULL),(42018,'NCBI Gene Summary',NULL,15536,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42019,'NCBI Gene PubMed Count',NULL,15536,NULL,NULL,NULL,1240,NULL,NULL,NULL),(42020,'NCBI Gene Summary',NULL,15537,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42021,'NCBI Gene PubMed Count',NULL,15537,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42022,'NCBI Gene Summary',NULL,15538,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42023,'NCBI Gene PubMed Count',NULL,15538,NULL,NULL,NULL,805,NULL,NULL,NULL),(42024,'NCBI Gene Summary',NULL,15540,NULL,'The protein encoded by this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(42025,'NCBI Gene PubMed Count',NULL,15540,NULL,NULL,NULL,38,NULL,NULL,NULL),(42026,'NCBI Gene Summary',NULL,15541,NULL,'This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(42027,'NCBI Gene PubMed Count',NULL,15541,NULL,NULL,NULL,20,NULL,NULL,NULL),(42028,'NCBI Gene PubMed Count',NULL,15542,NULL,NULL,NULL,11,NULL,NULL,NULL),(42029,'NCBI Gene Summary',NULL,15543,NULL,'This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(42030,'NCBI Gene PubMed Count',NULL,15543,NULL,NULL,NULL,658,NULL,NULL,NULL),(42031,'NCBI Gene Summary',NULL,15544,NULL,'This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(42032,'NCBI Gene PubMed Count',NULL,15544,NULL,NULL,NULL,326,NULL,NULL,NULL),(42033,'NCBI Gene PubMed Count',NULL,15545,NULL,NULL,NULL,13,NULL,NULL,NULL),(42034,'NCBI Gene Summary',NULL,15546,NULL,'The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42035,'NCBI Gene PubMed Count',NULL,15546,NULL,NULL,NULL,15,NULL,NULL,NULL),(42036,'NCBI Gene Summary',NULL,15547,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(42037,'NCBI Gene PubMed Count',NULL,15547,NULL,NULL,NULL,22,NULL,NULL,NULL),(42038,'NCBI Gene Summary',NULL,15548,NULL,'Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(42039,'NCBI Gene PubMed Count',NULL,15548,NULL,NULL,NULL,4,NULL,NULL,NULL),(42040,'NCBI Gene Summary',NULL,15549,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42041,'NCBI Gene PubMed Count',NULL,15549,NULL,NULL,NULL,1240,NULL,NULL,NULL),(42042,'NCBI Gene Summary',NULL,15550,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42043,'NCBI Gene PubMed Count',NULL,15550,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42044,'NCBI Gene Summary',NULL,15551,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42045,'NCBI Gene PubMed Count',NULL,15551,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42046,'NCBI Gene Summary',NULL,15552,NULL,'This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(42047,'NCBI Gene PubMed Count',NULL,15552,NULL,NULL,NULL,12,NULL,NULL,NULL),(42048,'NCBI Gene Summary',NULL,15553,NULL,'The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5\' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(42049,'NCBI Gene PubMed Count',NULL,15553,NULL,NULL,NULL,79,NULL,NULL,NULL),(42050,'NCBI Gene Summary',NULL,15554,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42051,'NCBI Gene PubMed Count',NULL,15554,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42052,'NCBI Gene Summary',NULL,15555,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42053,'NCBI Gene PubMed Count',NULL,15555,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42054,'NCBI Gene Summary',NULL,15556,NULL,'The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42055,'NCBI Gene PubMed Count',NULL,15556,NULL,NULL,NULL,24,NULL,NULL,NULL),(42056,'NCBI Gene Summary',NULL,15557,NULL,'The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(42057,'NCBI Gene PubMed Count',NULL,15557,NULL,NULL,NULL,16,NULL,NULL,NULL),(42058,'NCBI Gene Summary',NULL,15558,NULL,'This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(42059,'NCBI Gene PubMed Count',NULL,15558,NULL,NULL,NULL,11,NULL,NULL,NULL),(42060,'NCBI Gene Summary',NULL,15559,NULL,'This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(42061,'NCBI Gene PubMed Count',NULL,15559,NULL,NULL,NULL,42,NULL,NULL,NULL),(42062,'NCBI Gene Summary',NULL,15560,NULL,'This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42063,'NCBI Gene PubMed Count',NULL,15560,NULL,NULL,NULL,115,NULL,NULL,NULL),(42064,'NCBI Gene Summary',NULL,15561,NULL,'This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42065,'NCBI Gene PubMed Count',NULL,15561,NULL,NULL,NULL,8,NULL,NULL,NULL),(42066,'NCBI Gene PubMed Count',NULL,15562,NULL,NULL,NULL,26,NULL,NULL,NULL),(42067,'NCBI Gene Summary',NULL,15563,NULL,'This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42068,'NCBI Gene PubMed Count',NULL,15563,NULL,NULL,NULL,99,NULL,NULL,NULL),(42069,'NCBI Gene Summary',NULL,15564,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42070,'NCBI Gene PubMed Count',NULL,15564,NULL,NULL,NULL,110,NULL,NULL,NULL),(42071,'NCBI Gene PubMed Count',NULL,15565,NULL,NULL,NULL,29,NULL,NULL,NULL),(42072,'NCBI Gene Summary',NULL,15566,NULL,'This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(42073,'NCBI Gene PubMed Count',NULL,15566,NULL,NULL,NULL,56,NULL,NULL,NULL),(42074,'NCBI Gene Summary',NULL,15567,NULL,'This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. The protein encoded by this gene displays antiviral effect against flaviviruses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(42075,'NCBI Gene PubMed Count',NULL,15567,NULL,NULL,NULL,13,NULL,NULL,NULL),(42076,'NCBI Gene Summary',NULL,15568,NULL,'This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(42077,'NCBI Gene PubMed Count',NULL,15568,NULL,NULL,NULL,191,NULL,NULL,NULL),(42078,'NCBI Gene Summary',NULL,15569,NULL,'This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42079,'NCBI Gene PubMed Count',NULL,15569,NULL,NULL,NULL,194,NULL,NULL,NULL),(42080,'NCBI Gene Summary',NULL,15570,NULL,'The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(42081,'NCBI Gene PubMed Count',NULL,15570,NULL,NULL,NULL,97,NULL,NULL,NULL),(42082,'NCBI Gene Summary',NULL,15571,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42083,'NCBI Gene PubMed Count',NULL,15571,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42084,'NCBI Gene Summary',NULL,15572,NULL,'This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(42085,'NCBI Gene PubMed Count',NULL,15572,NULL,NULL,NULL,130,NULL,NULL,NULL),(42086,'NCBI Gene Summary',NULL,15573,NULL,'This gene encodes a secreted chaperone protein that prevents the aggregation of other secreted proteins, including proteins that are associated with neurodegenerative and metabolic disease. The encoded protein may be best known for its role in the trafficking and activation of prohormone convertase PC2 (encoded by Gene ID: 5126). Phosphorylation of the encoded protein has been shown to have an inhibitory effect on its chaperone function. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]',NULL,NULL,NULL,NULL,NULL),(42087,'NCBI Gene PubMed Count',NULL,15573,NULL,NULL,NULL,33,NULL,NULL,NULL),(42088,'NCBI Gene PubMed Count',NULL,15574,NULL,NULL,NULL,1,NULL,NULL,NULL),(42089,'NCBI Gene Summary',NULL,15575,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(42090,'NCBI Gene PubMed Count',NULL,15575,NULL,NULL,NULL,68,NULL,NULL,NULL),(42091,'NCBI Gene Summary',NULL,15576,NULL,'This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(42092,'NCBI Gene PubMed Count',NULL,15576,NULL,NULL,NULL,73,NULL,NULL,NULL),(42093,'NCBI Gene PubMed Count',NULL,15577,NULL,NULL,NULL,5,NULL,NULL,NULL),(42094,'NCBI Gene Summary',NULL,15578,NULL,'This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42095,'NCBI Gene PubMed Count',NULL,15578,NULL,NULL,NULL,17,NULL,NULL,NULL),(42096,'NCBI Gene PubMed Count',NULL,15579,NULL,NULL,NULL,8,NULL,NULL,NULL),(42097,'NCBI Gene Summary',NULL,15580,NULL,'This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(42098,'NCBI Gene PubMed Count',NULL,15580,NULL,NULL,NULL,2483,NULL,NULL,NULL),(42099,'NCBI Gene PubMed Count',NULL,15581,NULL,NULL,NULL,19,NULL,NULL,NULL),(42100,'NCBI Gene Summary',NULL,15582,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42101,'NCBI Gene PubMed Count',NULL,15582,NULL,NULL,NULL,1240,NULL,NULL,NULL),(42102,'NCBI Gene Summary',NULL,15583,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42103,'NCBI Gene PubMed Count',NULL,15583,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42104,'NCBI Gene Summary',NULL,15584,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42105,'NCBI Gene PubMed Count',NULL,15584,NULL,NULL,NULL,805,NULL,NULL,NULL),(42106,'NCBI Gene Summary',NULL,15585,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42107,'NCBI Gene PubMed Count',NULL,15585,NULL,NULL,NULL,2589,NULL,NULL,NULL),(42108,'NCBI Gene Summary',NULL,15586,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42109,'NCBI Gene PubMed Count',NULL,15586,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42110,'NCBI Gene Summary',NULL,15587,NULL,'This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5\'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(42111,'NCBI Gene PubMed Count',NULL,15587,NULL,NULL,NULL,51,NULL,NULL,NULL),(42112,'NCBI Gene Summary',NULL,15588,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42113,'NCBI Gene PubMed Count',NULL,15588,NULL,NULL,NULL,140,NULL,NULL,NULL),(42114,'NCBI Gene Summary',NULL,15589,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42115,'NCBI Gene PubMed Count',NULL,15589,NULL,NULL,NULL,42,NULL,NULL,NULL),(42116,'NCBI Gene Summary',NULL,15590,NULL,'The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(42117,'NCBI Gene PubMed Count',NULL,15590,NULL,NULL,NULL,28,NULL,NULL,NULL),(42118,'NCBI Gene Summary',NULL,15591,NULL,'This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(42119,'NCBI Gene PubMed Count',NULL,15591,NULL,NULL,NULL,15,NULL,NULL,NULL),(42120,'NCBI Gene Summary',NULL,15592,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42121,'NCBI Gene PubMed Count',NULL,15592,NULL,NULL,NULL,38,NULL,NULL,NULL),(42122,'NCBI Gene Summary',NULL,15593,NULL,'Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters.  Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42123,'NCBI Gene PubMed Count',NULL,15593,NULL,NULL,NULL,12,NULL,NULL,NULL),(42124,'NCBI Gene Summary',NULL,15594,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42125,'NCBI Gene PubMed Count',NULL,15594,NULL,NULL,NULL,31,NULL,NULL,NULL),(42126,'NCBI Gene Summary',NULL,15595,NULL,'Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42127,'NCBI Gene PubMed Count',NULL,15595,NULL,NULL,NULL,198,NULL,NULL,NULL),(42128,'NCBI Gene Summary',NULL,15596,NULL,'Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(42129,'NCBI Gene PubMed Count',NULL,15596,NULL,NULL,NULL,49,NULL,NULL,NULL),(42130,'NCBI Gene Summary',NULL,15597,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42131,'NCBI Gene PubMed Count',NULL,15597,NULL,NULL,NULL,2589,NULL,NULL,NULL),(42132,'NCBI Gene Summary',NULL,15598,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42133,'NCBI Gene PubMed Count',NULL,15598,NULL,NULL,NULL,1240,NULL,NULL,NULL),(42134,'NCBI Gene PubMed Count',NULL,15599,NULL,NULL,NULL,74,NULL,NULL,NULL),(42135,'NCBI Gene PubMed Count',NULL,15600,NULL,NULL,NULL,1,NULL,NULL,NULL),(42136,'NCBI Gene PubMed Count',NULL,15601,NULL,NULL,NULL,22,NULL,NULL,NULL),(42137,'NCBI Gene Summary',NULL,15602,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42138,'NCBI Gene PubMed Count',NULL,15602,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42139,'NCBI Gene Summary',NULL,15603,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42140,'NCBI Gene PubMed Count',NULL,15603,NULL,NULL,NULL,2589,NULL,NULL,NULL),(42141,'NCBI Gene Summary',NULL,15604,NULL,'The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(42142,'NCBI Gene PubMed Count',NULL,15604,NULL,NULL,NULL,35,NULL,NULL,NULL),(42143,'NCBI Gene Summary',NULL,15605,NULL,'The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer\'s disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(42144,'NCBI Gene PubMed Count',NULL,15605,NULL,NULL,NULL,216,NULL,NULL,NULL),(42145,'NCBI Gene Summary',NULL,15606,NULL,'This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42146,'NCBI Gene PubMed Count',NULL,15606,NULL,NULL,NULL,8,NULL,NULL,NULL),(42147,'NCBI Gene Summary',NULL,15607,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intra-cellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the MDR/TAP subfamily.  Members of the MDR/TAP subfamily are involved in multidrug resistance.  The function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42148,'NCBI Gene PubMed Count',NULL,15607,NULL,NULL,NULL,18,NULL,NULL,NULL),(42149,'NCBI Gene Summary',NULL,15608,NULL,'This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5\' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(42150,'NCBI Gene PubMed Count',NULL,15608,NULL,NULL,NULL,694,NULL,NULL,NULL),(42151,'NCBI Gene Summary',NULL,15609,NULL,'This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(42152,'NCBI Gene PubMed Count',NULL,15609,NULL,NULL,NULL,23,NULL,NULL,NULL),(42153,'NCBI Gene PubMed Count',NULL,15610,NULL,NULL,NULL,10,NULL,NULL,NULL),(42154,'NCBI Gene Summary',NULL,15611,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42155,'NCBI Gene PubMed Count',NULL,15611,NULL,NULL,NULL,1240,NULL,NULL,NULL),(42156,'NCBI Gene Summary',NULL,15612,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42157,'NCBI Gene PubMed Count',NULL,15612,NULL,NULL,NULL,805,NULL,NULL,NULL),(42158,'NCBI Gene Summary',NULL,15613,NULL,'The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42159,'NCBI Gene PubMed Count',NULL,15613,NULL,NULL,NULL,39,NULL,NULL,NULL),(42160,'NCBI Gene Summary',NULL,15614,NULL,'This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5\' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(42161,'NCBI Gene PubMed Count',NULL,15614,NULL,NULL,NULL,339,NULL,NULL,NULL),(42162,'NCBI Gene Summary',NULL,15616,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42163,'NCBI Gene PubMed Count',NULL,15616,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42164,'NCBI Gene Summary',NULL,15617,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42165,'NCBI Gene PubMed Count',NULL,15617,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42166,'NCBI Gene PubMed Count',NULL,15618,NULL,NULL,NULL,5,NULL,NULL,NULL),(42167,'NCBI Gene Summary',NULL,15619,NULL,'This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42168,'NCBI Gene PubMed Count',NULL,15619,NULL,NULL,NULL,26,NULL,NULL,NULL),(42169,'NCBI Gene Summary',NULL,15620,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42170,'NCBI Gene PubMed Count',NULL,15620,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42171,'NCBI Gene Summary',NULL,15621,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42172,'NCBI Gene PubMed Count',NULL,15621,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42173,'NCBI Gene Summary',NULL,15622,NULL,'The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(42174,'NCBI Gene PubMed Count',NULL,15622,NULL,NULL,NULL,97,NULL,NULL,NULL),(42175,'NCBI Gene PubMed Count',NULL,15623,NULL,NULL,NULL,4,NULL,NULL,NULL),(42176,'NCBI Gene PubMed Count',NULL,15624,NULL,NULL,NULL,24,NULL,NULL,NULL),(42177,'NCBI Gene Summary',NULL,15625,NULL,'The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42178,'NCBI Gene PubMed Count',NULL,15625,NULL,NULL,NULL,61,NULL,NULL,NULL),(42179,'NCBI Gene Summary',NULL,15626,NULL,'The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42180,'NCBI Gene PubMed Count',NULL,15626,NULL,NULL,NULL,145,NULL,NULL,NULL),(42181,'NCBI Gene PubMed Count',NULL,15627,NULL,NULL,NULL,5,NULL,NULL,NULL),(42182,'NCBI Gene Summary',NULL,15628,NULL,'This locus represents naturally occurring readthrough transcription between the neighboring PTGES3L (prostaglandin E synthase 3 (cytosolic)-like) and AARSD1(alanyl-tRNA synthetase domain containing 1) genes on chromosome 17. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(42183,'NCBI Gene PubMed Count',NULL,15628,NULL,NULL,NULL,8,NULL,NULL,NULL),(42184,'NCBI Gene Summary',NULL,15629,NULL,'The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42185,'NCBI Gene PubMed Count',NULL,15629,NULL,NULL,NULL,49,NULL,NULL,NULL),(42186,'NCBI Gene Summary',NULL,15630,NULL,'This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(42187,'NCBI Gene PubMed Count',NULL,15630,NULL,NULL,NULL,25,NULL,NULL,NULL),(42188,'NCBI Gene PubMed Count',NULL,15631,NULL,NULL,NULL,9,NULL,NULL,NULL),(42189,'NCBI Gene Summary',NULL,15632,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier\'s disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42190,'NCBI Gene PubMed Count',NULL,15632,NULL,NULL,NULL,681,NULL,NULL,NULL),(42191,'NCBI Gene Summary',NULL,15633,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42192,'NCBI Gene PubMed Count',NULL,15633,NULL,NULL,NULL,44,NULL,NULL,NULL),(42193,'NCBI Gene Summary',NULL,15634,NULL,'This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Mar 2019]',NULL,NULL,NULL,NULL,NULL),(42194,'NCBI Gene PubMed Count',NULL,15634,NULL,NULL,NULL,21,NULL,NULL,NULL),(42195,'NCBI Gene Summary',NULL,15635,NULL,'This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(42196,'NCBI Gene PubMed Count',NULL,15635,NULL,NULL,NULL,50,NULL,NULL,NULL),(42197,'NCBI Gene Summary',NULL,15636,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42198,'NCBI Gene PubMed Count',NULL,15636,NULL,NULL,NULL,805,NULL,NULL,NULL),(42199,'NCBI Gene Summary',NULL,15637,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42200,'NCBI Gene PubMed Count',NULL,15637,NULL,NULL,NULL,805,NULL,NULL,NULL),(42201,'NCBI Gene Summary',NULL,15638,NULL,'This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5\' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42202,'NCBI Gene PubMed Count',NULL,15638,NULL,NULL,NULL,207,NULL,NULL,NULL),(42203,'NCBI Gene Summary',NULL,15639,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42204,'NCBI Gene PubMed Count',NULL,15639,NULL,NULL,NULL,1240,NULL,NULL,NULL),(42205,'NCBI Gene Summary',NULL,15640,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42206,'NCBI Gene PubMed Count',NULL,15640,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42207,'NCBI Gene Summary',NULL,15641,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42208,'NCBI Gene PubMed Count',NULL,15641,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42209,'NCBI Gene Summary',NULL,15642,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42210,'NCBI Gene PubMed Count',NULL,15642,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42211,'NCBI Gene PubMed Count',NULL,15643,NULL,NULL,NULL,4,NULL,NULL,NULL),(42212,'NCBI Gene Summary',NULL,15644,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42213,'NCBI Gene PubMed Count',NULL,15644,NULL,NULL,NULL,128,NULL,NULL,NULL),(42214,'NCBI Gene PubMed Count',NULL,15645,NULL,NULL,NULL,4,NULL,NULL,NULL),(42215,'NCBI Gene Summary',NULL,15646,NULL,'This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(42216,'NCBI Gene PubMed Count',NULL,15646,NULL,NULL,NULL,52,NULL,NULL,NULL),(42217,'NCBI Gene Summary',NULL,15647,NULL,'This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(42218,'NCBI Gene PubMed Count',NULL,15647,NULL,NULL,NULL,16,NULL,NULL,NULL),(42219,'NCBI Gene Summary',NULL,15648,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42220,'NCBI Gene PubMed Count',NULL,15648,NULL,NULL,NULL,805,NULL,NULL,NULL),(42221,'NCBI Gene Summary',NULL,15649,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42222,'NCBI Gene PubMed Count',NULL,15649,NULL,NULL,NULL,2589,NULL,NULL,NULL),(42223,'NCBI Gene Summary',NULL,15650,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42224,'NCBI Gene PubMed Count',NULL,15650,NULL,NULL,NULL,805,NULL,NULL,NULL),(42225,'NCBI Gene Summary',NULL,15651,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42226,'NCBI Gene PubMed Count',NULL,15651,NULL,NULL,NULL,805,NULL,NULL,NULL),(42227,'NCBI Gene PubMed Count',NULL,15652,NULL,NULL,NULL,10,NULL,NULL,NULL),(42228,'NCBI Gene Summary',NULL,15653,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42229,'NCBI Gene PubMed Count',NULL,15653,NULL,NULL,NULL,1815,NULL,NULL,NULL),(42230,'NCBI Gene PubMed Count',NULL,15654,NULL,NULL,NULL,18,NULL,NULL,NULL),(42231,'NCBI Gene PubMed Count',NULL,15655,NULL,NULL,NULL,8,NULL,NULL,NULL),(42232,'NCBI Gene PubMed Count',NULL,15656,NULL,NULL,NULL,7,NULL,NULL,NULL),(42233,'NCBI Gene PubMed Count',NULL,15657,NULL,NULL,NULL,4,NULL,NULL,NULL),(42234,'NCBI Gene Summary',NULL,15658,NULL,'This gene encodes a LIM zinc-binding domain-containing protein that binds to actin filaments and mediates interactions between actin and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(42235,'NCBI Gene PubMed Count',NULL,15658,NULL,NULL,NULL,31,NULL,NULL,NULL),(42236,'NCBI Gene PubMed Count',NULL,15659,NULL,NULL,NULL,9,NULL,NULL,NULL),(42237,'NCBI Gene Summary',NULL,15660,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42238,'NCBI Gene PubMed Count',NULL,15660,NULL,NULL,NULL,27,NULL,NULL,NULL),(42239,'NCBI Gene PubMed Count',NULL,15661,NULL,NULL,NULL,8,NULL,NULL,NULL),(42240,'NCBI Gene Summary',NULL,15662,NULL,'This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42241,'NCBI Gene PubMed Count',NULL,15662,NULL,NULL,NULL,61,NULL,NULL,NULL),(42242,'NCBI Gene Summary',NULL,15663,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42243,'NCBI Gene PubMed Count',NULL,15663,NULL,NULL,NULL,1240,NULL,NULL,NULL),(42244,'NCBI Gene Summary',NULL,15664,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42245,'NCBI Gene PubMed Count',NULL,15664,NULL,NULL,NULL,805,NULL,NULL,NULL),(42246,'NCBI Gene Summary',NULL,15665,NULL,'This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(42247,'NCBI Gene PubMed Count',NULL,15665,NULL,NULL,NULL,105,NULL,NULL,NULL),(42248,'NCBI Gene Summary',NULL,15666,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42249,'NCBI Gene PubMed Count',NULL,15666,NULL,NULL,NULL,2589,NULL,NULL,NULL),(42250,'NCBI Gene Summary',NULL,15667,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42251,'NCBI Gene PubMed Count',NULL,15667,NULL,NULL,NULL,2589,NULL,NULL,NULL),(42252,'NCBI Gene Summary',NULL,15668,NULL,'The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(42253,'NCBI Gene PubMed Count',NULL,15668,NULL,NULL,NULL,76,NULL,NULL,NULL),(42254,'NCBI Gene Summary',NULL,15669,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42255,'NCBI Gene PubMed Count',NULL,15669,NULL,NULL,NULL,1240,NULL,NULL,NULL),(42256,'NCBI Gene Summary',NULL,15670,NULL,'SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(42257,'NCBI Gene PubMed Count',NULL,15670,NULL,NULL,NULL,14,NULL,NULL,NULL),(42258,'NCBI Gene Summary',NULL,15671,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42259,'NCBI Gene PubMed Count',NULL,15671,NULL,NULL,NULL,63,NULL,NULL,NULL),(42260,'NCBI Gene Summary',NULL,15672,NULL,'This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42261,'NCBI Gene PubMed Count',NULL,15672,NULL,NULL,NULL,11,NULL,NULL,NULL),(42262,'NCBI Gene PubMed Count',NULL,15673,NULL,NULL,NULL,18,NULL,NULL,NULL),(42263,'NCBI Gene Summary',NULL,15674,NULL,'This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(42264,'NCBI Gene PubMed Count',NULL,15674,NULL,NULL,NULL,14,NULL,NULL,NULL),(42265,'NCBI Gene Summary',NULL,15675,NULL,'The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(42266,'NCBI Gene PubMed Count',NULL,15675,NULL,NULL,NULL,15,NULL,NULL,NULL),(42267,'NCBI Gene Summary',NULL,15676,NULL,'Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5\' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42268,'NCBI Gene PubMed Count',NULL,15676,NULL,NULL,NULL,75,NULL,NULL,NULL),(42269,'NCBI Gene Summary',NULL,15677,NULL,'Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(42270,'NCBI Gene PubMed Count',NULL,15677,NULL,NULL,NULL,47,NULL,NULL,NULL),(42271,'NCBI Gene Summary',NULL,15678,NULL,'The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42272,'NCBI Gene PubMed Count',NULL,15678,NULL,NULL,NULL,29,NULL,NULL,NULL),(42273,'NCBI Gene Summary',NULL,15679,NULL,'ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(42274,'NCBI Gene PubMed Count',NULL,15679,NULL,NULL,NULL,69,NULL,NULL,NULL),(42275,'NCBI Gene PubMed Count',NULL,15680,NULL,NULL,NULL,6,NULL,NULL,NULL),(42276,'NCBI Gene Summary',NULL,15681,NULL,'This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42277,'NCBI Gene PubMed Count',NULL,15681,NULL,NULL,NULL,44,NULL,NULL,NULL),(42278,'NCBI Gene Summary',NULL,15682,NULL,'This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(42279,'NCBI Gene PubMed Count',NULL,15682,NULL,NULL,NULL,36,NULL,NULL,NULL),(42280,'NCBI Gene PubMed Count',NULL,15683,NULL,NULL,NULL,10,NULL,NULL,NULL),(42281,'NCBI Gene PubMed Count',NULL,15684,NULL,NULL,NULL,11,NULL,NULL,NULL),(42282,'NCBI Gene Summary',NULL,15685,NULL,'This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42283,'NCBI Gene PubMed Count',NULL,15685,NULL,NULL,NULL,34,NULL,NULL,NULL),(42284,'NCBI Gene Summary',NULL,15686,NULL,'Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42285,'NCBI Gene PubMed Count',NULL,15686,NULL,NULL,NULL,72,NULL,NULL,NULL),(42286,'NCBI Gene Summary',NULL,15687,NULL,'This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42287,'NCBI Gene PubMed Count',NULL,15687,NULL,NULL,NULL,54,NULL,NULL,NULL),(42288,'NCBI Gene Summary',NULL,15688,NULL,'This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also participate in the glycine conjugation pathway in the detoxification of xenobiotics such as benzoate and ibuprofen. Expression levels of this gene in the kidney may be correlated with kidney function. This gene and its paralog ACSM2B (Gene ID: 348158), both present on chromosome 16, likely arose from a chromosomal duplication event. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(42289,'NCBI Gene PubMed Count',NULL,15688,NULL,NULL,NULL,14,NULL,NULL,NULL),(42290,'NCBI Gene Summary',NULL,15689,NULL,'The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42291,'NCBI Gene PubMed Count',NULL,15689,NULL,NULL,NULL,37,NULL,NULL,NULL),(42292,'NCBI Gene Summary',NULL,15690,NULL,'This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(42293,'NCBI Gene PubMed Count',NULL,15690,NULL,NULL,NULL,39,NULL,NULL,NULL),(42294,'NCBI Gene Summary',NULL,15691,NULL,'This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(42295,'NCBI Gene PubMed Count',NULL,15691,NULL,NULL,NULL,9,NULL,NULL,NULL),(42296,'NCBI Gene Summary',NULL,15692,NULL,'This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(42297,'NCBI Gene PubMed Count',NULL,15692,NULL,NULL,NULL,57,NULL,NULL,NULL),(42298,'NCBI Gene PubMed Count',NULL,15693,NULL,NULL,NULL,8,NULL,NULL,NULL),(42299,'NCBI Gene Summary',NULL,15694,NULL,'ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(42300,'NCBI Gene PubMed Count',NULL,15694,NULL,NULL,NULL,3,NULL,NULL,NULL),(42301,'NCBI Gene Summary',NULL,15695,NULL,'The protein encoded by this gene is a preprohormone which is cleaved to form two biologically active peptides, adrenomedullin and proadrenomedullin N-terminal 20 peptide. Adrenomedullin is a 52 aa peptide with several functions, including vasodilation, regulation of hormone secretion, promotion of angiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(42302,'NCBI Gene PubMed Count',NULL,15695,NULL,NULL,NULL,334,NULL,NULL,NULL),(42303,'NCBI Gene PubMed Count',NULL,15696,NULL,NULL,NULL,19,NULL,NULL,NULL),(42304,'NCBI Gene Summary',NULL,15697,NULL,'SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010]',NULL,NULL,NULL,NULL,NULL),(42305,'NCBI Gene PubMed Count',NULL,15697,NULL,NULL,NULL,25,NULL,NULL,NULL),(42306,'NCBI Gene Summary',NULL,15698,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(42307,'NCBI Gene PubMed Count',NULL,15698,NULL,NULL,NULL,12,NULL,NULL,NULL),(42308,'NCBI Gene Summary',NULL,15699,NULL,'The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42309,'NCBI Gene PubMed Count',NULL,15699,NULL,NULL,NULL,70,NULL,NULL,NULL),(42310,'NCBI Gene Summary',NULL,15700,NULL,'This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(42311,'NCBI Gene PubMed Count',NULL,15700,NULL,NULL,NULL,55,NULL,NULL,NULL),(42312,'NCBI Gene Summary',NULL,15701,NULL,'The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(42313,'NCBI Gene PubMed Count',NULL,15701,NULL,NULL,NULL,24,NULL,NULL,NULL),(42314,'NCBI Gene Summary',NULL,15702,NULL,'This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(42315,'NCBI Gene PubMed Count',NULL,15702,NULL,NULL,NULL,81,NULL,NULL,NULL),(42316,'NCBI Gene Summary',NULL,15703,NULL,'The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(42317,'NCBI Gene PubMed Count',NULL,15703,NULL,NULL,NULL,33,NULL,NULL,NULL),(42318,'NCBI Gene PubMed Count',NULL,15704,NULL,NULL,NULL,0,NULL,NULL,NULL),(42319,'NCBI Gene PubMed Count',NULL,15705,NULL,NULL,NULL,37,NULL,NULL,NULL),(42320,'NCBI Gene PubMed Count',NULL,15706,NULL,NULL,NULL,14,NULL,NULL,NULL),(42321,'NCBI Gene PubMed Count',NULL,15707,NULL,NULL,NULL,8,NULL,NULL,NULL),(42322,'NCBI Gene Summary',NULL,15708,NULL,'This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(42323,'NCBI Gene PubMed Count',NULL,15708,NULL,NULL,NULL,10,NULL,NULL,NULL),(42324,'NCBI Gene Summary',NULL,15709,NULL,'This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42325,'NCBI Gene PubMed Count',NULL,15709,NULL,NULL,NULL,197,NULL,NULL,NULL),(42326,'NCBI Gene Summary',NULL,15710,NULL,'Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42327,'NCBI Gene PubMed Count',NULL,15710,NULL,NULL,NULL,140,NULL,NULL,NULL),(42328,'NCBI Gene Summary',NULL,15711,NULL,'This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(42329,'NCBI Gene PubMed Count',NULL,15711,NULL,NULL,NULL,14,NULL,NULL,NULL),(42330,'NCBI Gene Summary',NULL,15712,NULL,'Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(42331,'NCBI Gene PubMed Count',NULL,15712,NULL,NULL,NULL,98,NULL,NULL,NULL),(42332,'NCBI Gene Summary',NULL,15713,NULL,'This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(42333,'NCBI Gene PubMed Count',NULL,15713,NULL,NULL,NULL,14,NULL,NULL,NULL),(42334,'NCBI Gene Summary',NULL,15714,NULL,'Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(42335,'NCBI Gene PubMed Count',NULL,15714,NULL,NULL,NULL,289,NULL,NULL,NULL),(42336,'NCBI Gene Summary',NULL,15715,NULL,'Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(42337,'NCBI Gene PubMed Count',NULL,15715,NULL,NULL,NULL,56,NULL,NULL,NULL),(42338,'NCBI Gene PubMed Count',NULL,15716,NULL,NULL,NULL,6,NULL,NULL,NULL),(42339,'NCBI Gene Summary',NULL,15717,NULL,'This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(42340,'NCBI Gene PubMed Count',NULL,15717,NULL,NULL,NULL,35,NULL,NULL,NULL),(42341,'NCBI Gene Summary',NULL,15718,NULL,'This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(42342,'NCBI Gene PubMed Count',NULL,15718,NULL,NULL,NULL,189,NULL,NULL,NULL),(42343,'NCBI Gene Summary',NULL,15719,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer\'s disease. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(42344,'NCBI Gene PubMed Count',NULL,15719,NULL,NULL,NULL,42,NULL,NULL,NULL),(42345,'NCBI Gene Summary',NULL,15720,NULL,'This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(42346,'NCBI Gene PubMed Count',NULL,15720,NULL,NULL,NULL,9,NULL,NULL,NULL),(42347,'NCBI Gene Summary',NULL,15721,NULL,'This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(42348,'NCBI Gene PubMed Count',NULL,15721,NULL,NULL,NULL,18,NULL,NULL,NULL),(42349,'NCBI Gene Summary',NULL,15722,NULL,'The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(42350,'NCBI Gene PubMed Count',NULL,15722,NULL,NULL,NULL,24,NULL,NULL,NULL),(42351,'NCBI Gene Summary',NULL,15723,NULL,'The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(42352,'NCBI Gene PubMed Count',NULL,15723,NULL,NULL,NULL,24,NULL,NULL,NULL),(42353,'NCBI Gene Summary',NULL,15724,NULL,'The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42354,'NCBI Gene PubMed Count',NULL,15724,NULL,NULL,NULL,10,NULL,NULL,NULL),(42355,'NCBI Gene PubMed Count',NULL,15725,NULL,NULL,NULL,9,NULL,NULL,NULL),(42356,'NCBI Gene PubMed Count',NULL,15726,NULL,NULL,NULL,5,NULL,NULL,NULL),(42357,'NCBI Gene PubMed Count',NULL,15727,NULL,NULL,NULL,3,NULL,NULL,NULL),(42358,'NCBI Gene Summary',NULL,15728,NULL,'Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42359,'NCBI Gene PubMed Count',NULL,15728,NULL,NULL,NULL,38,NULL,NULL,NULL),(42360,'NCBI Gene Summary',NULL,15729,NULL,'This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(42361,'NCBI Gene PubMed Count',NULL,15729,NULL,NULL,NULL,60,NULL,NULL,NULL),(42362,'NCBI Gene PubMed Count',NULL,15730,NULL,NULL,NULL,4,NULL,NULL,NULL),(42363,'NCBI Gene Summary',NULL,15731,NULL,'The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(42364,'NCBI Gene PubMed Count',NULL,15731,NULL,NULL,NULL,339,NULL,NULL,NULL),(42365,'NCBI Gene Summary',NULL,15732,NULL,'The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(42366,'NCBI Gene PubMed Count',NULL,15732,NULL,NULL,NULL,27,NULL,NULL,NULL),(42367,'NCBI Gene Summary',NULL,15733,NULL,'The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(42368,'NCBI Gene PubMed Count',NULL,15733,NULL,NULL,NULL,31,NULL,NULL,NULL),(42369,'NCBI Gene PubMed Count',NULL,15734,NULL,NULL,NULL,10,NULL,NULL,NULL),(42370,'NCBI Gene PubMed Count',NULL,15735,NULL,NULL,NULL,20,NULL,NULL,NULL),(42371,'NCBI Gene PubMed Count',NULL,15736,NULL,NULL,NULL,7,NULL,NULL,NULL),(42372,'NCBI Gene Summary',NULL,15737,NULL,'This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42373,'NCBI Gene PubMed Count',NULL,15737,NULL,NULL,NULL,26,NULL,NULL,NULL),(42374,'NCBI Gene PubMed Count',NULL,15738,NULL,NULL,NULL,3,NULL,NULL,NULL),(42375,'NCBI Gene PubMed Count',NULL,15739,NULL,NULL,NULL,5,NULL,NULL,NULL),(42376,'NCBI Gene Summary',NULL,15740,NULL,'This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(42377,'NCBI Gene PubMed Count',NULL,15740,NULL,NULL,NULL,6,NULL,NULL,NULL),(42378,'NCBI Gene Summary',NULL,15741,NULL,'The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42379,'NCBI Gene PubMed Count',NULL,15741,NULL,NULL,NULL,134,NULL,NULL,NULL),(42380,'NCBI Gene PubMed Count',NULL,15742,NULL,NULL,NULL,6,NULL,NULL,NULL),(42381,'NCBI Gene Summary',NULL,15743,NULL,'This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(42382,'NCBI Gene PubMed Count',NULL,15743,NULL,NULL,NULL,21,NULL,NULL,NULL),(42383,'NCBI Gene Summary',NULL,15744,NULL,'Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(42384,'NCBI Gene PubMed Count',NULL,15744,NULL,NULL,NULL,37,NULL,NULL,NULL),(42385,'NCBI Gene Summary',NULL,15745,NULL,'This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42386,'NCBI Gene PubMed Count',NULL,15745,NULL,NULL,NULL,153,NULL,NULL,NULL),(42387,'NCBI Gene Summary',NULL,15746,NULL,'The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42388,'NCBI Gene PubMed Count',NULL,15746,NULL,NULL,NULL,36,NULL,NULL,NULL),(42389,'NCBI Gene PubMed Count',NULL,15747,NULL,NULL,NULL,9,NULL,NULL,NULL),(42390,'NCBI Gene PubMed Count',NULL,15748,NULL,NULL,NULL,18,NULL,NULL,NULL),(42391,'NCBI Gene Summary',NULL,15749,NULL,'This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(42392,'NCBI Gene PubMed Count',NULL,15749,NULL,NULL,NULL,45,NULL,NULL,NULL),(42393,'NCBI Gene Summary',NULL,15750,NULL,'This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(42394,'NCBI Gene PubMed Count',NULL,15750,NULL,NULL,NULL,188,NULL,NULL,NULL),(42395,'NCBI Gene Summary',NULL,15751,NULL,'The protein encoded by this gene is a member of the AKT, also called PKB,  serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42396,'NCBI Gene PubMed Count',NULL,15751,NULL,NULL,NULL,149,NULL,NULL,NULL),(42397,'NCBI Gene Summary',NULL,15752,NULL,'This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42398,'NCBI Gene PubMed Count',NULL,15752,NULL,NULL,NULL,39,NULL,NULL,NULL),(42399,'NCBI Gene Summary',NULL,15753,NULL,'This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(42400,'NCBI Gene PubMed Count',NULL,15753,NULL,NULL,NULL,12,NULL,NULL,NULL),(42401,'NCBI Gene Summary',NULL,15754,NULL,'The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42402,'NCBI Gene PubMed Count',NULL,15754,NULL,NULL,NULL,12,NULL,NULL,NULL),(42403,'NCBI Gene PubMed Count',NULL,15755,NULL,NULL,NULL,13,NULL,NULL,NULL),(42404,'NCBI Gene Summary',NULL,15756,NULL,'This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(42405,'NCBI Gene PubMed Count',NULL,15756,NULL,NULL,NULL,187,NULL,NULL,NULL),(42406,'NCBI Gene Summary',NULL,15757,NULL,'ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(42407,'NCBI Gene PubMed Count',NULL,15757,NULL,NULL,NULL,26,NULL,NULL,NULL),(42408,'NCBI Gene Summary',NULL,15758,NULL,'Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(42409,'NCBI Gene PubMed Count',NULL,15758,NULL,NULL,NULL,204,NULL,NULL,NULL),(42410,'NCBI Gene Summary',NULL,15759,NULL,'This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(42411,'NCBI Gene PubMed Count',NULL,15759,NULL,NULL,NULL,45,NULL,NULL,NULL),(42412,'NCBI Gene Summary',NULL,15760,NULL,'This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(42413,'NCBI Gene PubMed Count',NULL,15760,NULL,NULL,NULL,39,NULL,NULL,NULL),(42414,'NCBI Gene Summary',NULL,15761,NULL,'This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(42415,'NCBI Gene PubMed Count',NULL,15761,NULL,NULL,NULL,35,NULL,NULL,NULL),(42416,'NCBI Gene Summary',NULL,15762,NULL,'This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(42417,'NCBI Gene PubMed Count',NULL,15762,NULL,NULL,NULL,20,NULL,NULL,NULL),(42418,'NCBI Gene Summary',NULL,15763,NULL,'This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42419,'NCBI Gene PubMed Count',NULL,15763,NULL,NULL,NULL,33,NULL,NULL,NULL),(42420,'NCBI Gene PubMed Count',NULL,15764,NULL,NULL,NULL,2,NULL,NULL,NULL),(42421,'NCBI Gene Summary',NULL,15765,NULL,'Sequence analysis of this gene suggests that it is encodes a member of the superfamily of G protein-couple receptors. G protein-coupled receptors typically contain seven hydrophobic transmembrane domains, interact with guanine nucleotide binding regulatory proteins, and detect molecules outside the cell and act to transduce these signals into intracellular responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(42422,'NCBI Gene PubMed Count',NULL,15765,NULL,NULL,NULL,10,NULL,NULL,NULL),(42423,'NCBI Gene Summary',NULL,15766,NULL,'This gene encodes a protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(42424,'NCBI Gene PubMed Count',NULL,15766,NULL,NULL,NULL,14,NULL,NULL,NULL),(42425,'NCBI Gene Summary',NULL,15767,NULL,'This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(42426,'NCBI Gene PubMed Count',NULL,15767,NULL,NULL,NULL,11,NULL,NULL,NULL),(42427,'NCBI Gene Summary',NULL,15768,NULL,'This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(42428,'NCBI Gene PubMed Count',NULL,15768,NULL,NULL,NULL,21,NULL,NULL,NULL),(42429,'NCBI Gene Summary',NULL,15769,NULL,'The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(42430,'NCBI Gene PubMed Count',NULL,15769,NULL,NULL,NULL,81,NULL,NULL,NULL),(42431,'NCBI Gene PubMed Count',NULL,15770,NULL,NULL,NULL,25,NULL,NULL,NULL),(42432,'NCBI Gene Summary',NULL,15771,NULL,'This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42433,'NCBI Gene PubMed Count',NULL,15771,NULL,NULL,NULL,36,NULL,NULL,NULL),(42434,'NCBI Gene Summary',NULL,15772,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. This gene is present in a gene cluster with other members of the ADAM family on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(42435,'NCBI Gene PubMed Count',NULL,15772,NULL,NULL,NULL,41,NULL,NULL,NULL),(42436,'NCBI Gene Summary',NULL,15773,NULL,'This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person\'s stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(42437,'NCBI Gene PubMed Count',NULL,15773,NULL,NULL,NULL,38,NULL,NULL,NULL),(42438,'NCBI Gene Summary',NULL,15774,NULL,'This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42439,'NCBI Gene PubMed Count',NULL,15774,NULL,NULL,NULL,55,NULL,NULL,NULL),(42440,'NCBI Gene PubMed Count',NULL,15775,NULL,NULL,NULL,13,NULL,NULL,NULL),(42441,'NCBI Gene PubMed Count',NULL,15776,NULL,NULL,NULL,2,NULL,NULL,NULL),(42442,'NCBI Gene Summary',NULL,15777,NULL,'Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42443,'NCBI Gene PubMed Count',NULL,15777,NULL,NULL,NULL,34,NULL,NULL,NULL),(42444,'NCBI Gene Summary',NULL,15778,NULL,'This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(42445,'NCBI Gene PubMed Count',NULL,15778,NULL,NULL,NULL,68,NULL,NULL,NULL),(42446,'NCBI Gene Summary',NULL,15779,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(42447,'NCBI Gene PubMed Count',NULL,15779,NULL,NULL,NULL,14,NULL,NULL,NULL),(42448,'NCBI Gene Summary',NULL,15780,NULL,'This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42449,'NCBI Gene PubMed Count',NULL,15780,NULL,NULL,NULL,217,NULL,NULL,NULL),(42450,'NCBI Gene Summary',NULL,15781,NULL,'This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(42451,'NCBI Gene PubMed Count',NULL,15781,NULL,NULL,NULL,19,NULL,NULL,NULL),(42452,'NCBI Gene PubMed Count',NULL,15782,NULL,NULL,NULL,6,NULL,NULL,NULL),(42453,'NCBI Gene Summary',NULL,15783,NULL,'This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42454,'NCBI Gene PubMed Count',NULL,15783,NULL,NULL,NULL,13,NULL,NULL,NULL),(42455,'NCBI Gene PubMed Count',NULL,15784,NULL,NULL,NULL,6,NULL,NULL,NULL),(42456,'NCBI Gene Summary',NULL,15785,NULL,'This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42457,'NCBI Gene PubMed Count',NULL,15785,NULL,NULL,NULL,189,NULL,NULL,NULL),(42458,'NCBI Gene Summary',NULL,15786,NULL,'This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(42459,'NCBI Gene PubMed Count',NULL,15786,NULL,NULL,NULL,37,NULL,NULL,NULL),(42460,'NCBI Gene Summary',NULL,15787,NULL,'The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(42461,'NCBI Gene PubMed Count',NULL,15787,NULL,NULL,NULL,49,NULL,NULL,NULL),(42462,'NCBI Gene Summary',NULL,15788,NULL,'This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(42463,'NCBI Gene PubMed Count',NULL,15788,NULL,NULL,NULL,28,NULL,NULL,NULL),(42464,'NCBI Gene PubMed Count',NULL,15789,NULL,NULL,NULL,9,NULL,NULL,NULL),(42465,'NCBI Gene Summary',NULL,15790,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(42466,'NCBI Gene PubMed Count',NULL,15790,NULL,NULL,NULL,31,NULL,NULL,NULL),(42467,'NCBI Gene Summary',NULL,15791,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(42468,'NCBI Gene PubMed Count',NULL,15791,NULL,NULL,NULL,30,NULL,NULL,NULL),(42469,'NCBI Gene Summary',NULL,15792,NULL,'The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(42470,'NCBI Gene PubMed Count',NULL,15792,NULL,NULL,NULL,14,NULL,NULL,NULL),(42471,'NCBI Gene Summary',NULL,15793,NULL,'This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(42472,'NCBI Gene PubMed Count',NULL,15793,NULL,NULL,NULL,22,NULL,NULL,NULL),(42473,'NCBI Gene Summary',NULL,15794,NULL,'This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(42474,'NCBI Gene PubMed Count',NULL,15794,NULL,NULL,NULL,153,NULL,NULL,NULL),(42475,'NCBI Gene Summary',NULL,15795,NULL,'The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the cognitive disability or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(42476,'NCBI Gene PubMed Count',NULL,15795,NULL,NULL,NULL,55,NULL,NULL,NULL),(42477,'NCBI Gene Summary',NULL,15796,NULL,'This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5\' exon with the overlapping gene, secretory carrier membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(42478,'NCBI Gene PubMed Count',NULL,15796,NULL,NULL,NULL,8,NULL,NULL,NULL),(42479,'NCBI Gene PubMed Count',NULL,15797,NULL,NULL,NULL,30,NULL,NULL,NULL),(42480,'NCBI Gene Summary',NULL,15798,NULL,'Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(42481,'NCBI Gene PubMed Count',NULL,15798,NULL,NULL,NULL,10,NULL,NULL,NULL),(42482,'NCBI Gene Summary',NULL,15799,NULL,'This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protein coupled receptors. These proteins are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor-like domains coupled to a TM7 domain via a mucin-like spacer domain. The encoded protein is expressed mainly in myeloid cells where it promotes cell-cell adhesion through interaction with chondroitin sulfate chains. This gene is situated in a cluster of related genes on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(42483,'NCBI Gene PubMed Count',NULL,15799,NULL,NULL,NULL,36,NULL,NULL,NULL),(42484,'NCBI Gene PubMed Count',NULL,15800,NULL,NULL,NULL,2,NULL,NULL,NULL),(42485,'NCBI Gene Summary',NULL,15801,NULL,'This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(42486,'NCBI Gene PubMed Count',NULL,15801,NULL,NULL,NULL,61,NULL,NULL,NULL),(42487,'NCBI Gene PubMed Count',NULL,15802,NULL,NULL,NULL,20,NULL,NULL,NULL),(42488,'NCBI Gene Summary',NULL,15803,NULL,'The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42489,'NCBI Gene PubMed Count',NULL,15803,NULL,NULL,NULL,27,NULL,NULL,NULL),(42490,'NCBI Gene Summary',NULL,15804,NULL,'This gene encodes a member of the G protein-coupled receptor family described as an epididymis-specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a motif shown to be a protein scission motif in some members of this family (PMID: 11973329). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(42491,'NCBI Gene PubMed Count',NULL,15804,NULL,NULL,NULL,16,NULL,NULL,NULL),(42492,'NCBI Gene Summary',NULL,15805,NULL,'This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(42493,'NCBI Gene PubMed Count',NULL,15805,NULL,NULL,NULL,123,NULL,NULL,NULL),(42494,'NCBI Gene Summary',NULL,15806,NULL,'The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42495,'NCBI Gene PubMed Count',NULL,15806,NULL,NULL,NULL,112,NULL,NULL,NULL),(42496,'NCBI Gene Summary',NULL,15807,NULL,'This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(42497,'NCBI Gene PubMed Count',NULL,15807,NULL,NULL,NULL,30,NULL,NULL,NULL),(42498,'NCBI Gene PubMed Count',NULL,15808,NULL,NULL,NULL,17,NULL,NULL,NULL),(42499,'NCBI Gene Summary',NULL,15809,NULL,'Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42500,'NCBI Gene PubMed Count',NULL,15809,NULL,NULL,NULL,36,NULL,NULL,NULL),(42501,'NCBI Gene PubMed Count',NULL,15810,NULL,NULL,NULL,4,NULL,NULL,NULL),(42502,'NCBI Gene PubMed Count',NULL,15811,NULL,NULL,NULL,2,NULL,NULL,NULL),(42503,'NCBI Gene Summary',NULL,15812,NULL,'The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(42504,'NCBI Gene PubMed Count',NULL,15812,NULL,NULL,NULL,11,NULL,NULL,NULL),(42505,'NCBI Gene PubMed Count',NULL,15813,NULL,NULL,NULL,12,NULL,NULL,NULL),(42506,'NCBI Gene Summary',NULL,15814,NULL,'Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42507,'NCBI Gene PubMed Count',NULL,15814,NULL,NULL,NULL,33,NULL,NULL,NULL),(42508,'NCBI Gene Summary',NULL,15815,NULL,'The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(42509,'NCBI Gene PubMed Count',NULL,15815,NULL,NULL,NULL,37,NULL,NULL,NULL),(42510,'NCBI Gene Summary',NULL,15816,NULL,'This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene.[provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(42511,'NCBI Gene PubMed Count',NULL,15816,NULL,NULL,NULL,53,NULL,NULL,NULL),(42512,'NCBI Gene Summary',NULL,15817,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature sperm surface protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(42513,'NCBI Gene PubMed Count',NULL,15817,NULL,NULL,NULL,10,NULL,NULL,NULL),(42514,'NCBI Gene Summary',NULL,15818,NULL,'This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(42515,'NCBI Gene PubMed Count',NULL,15818,NULL,NULL,NULL,77,NULL,NULL,NULL),(42516,'NCBI Gene Summary',NULL,15819,NULL,'APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42517,'NCBI Gene PubMed Count',NULL,15819,NULL,NULL,NULL,13,NULL,NULL,NULL),(42518,'NCBI Gene Summary',NULL,15820,NULL,'This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15 homology (EH) domains and plays a role in the Rev export pathway, which mediates the nucleocytoplasmic transfer of proteins and RNAs. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(42519,'NCBI Gene PubMed Count',NULL,15820,NULL,NULL,NULL,10,NULL,NULL,NULL),(42520,'NCBI Gene Summary',NULL,15821,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene is testis-specific. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42521,'NCBI Gene PubMed Count',NULL,15821,NULL,NULL,NULL,5,NULL,NULL,NULL),(42522,'NCBI Gene PubMed Count',NULL,15822,NULL,NULL,NULL,8,NULL,NULL,NULL),(42523,'NCBI Gene Summary',NULL,15823,NULL,'This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(42524,'NCBI Gene PubMed Count',NULL,15823,NULL,NULL,NULL,67,NULL,NULL,NULL),(42525,'NCBI Gene Summary',NULL,15824,NULL,'The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(42526,'NCBI Gene PubMed Count',NULL,15824,NULL,NULL,NULL,116,NULL,NULL,NULL),(42527,'NCBI Gene Summary',NULL,15825,NULL,'This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(42528,'NCBI Gene PubMed Count',NULL,15825,NULL,NULL,NULL,296,NULL,NULL,NULL),(42529,'NCBI Gene Summary',NULL,15826,NULL,'The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42530,'NCBI Gene PubMed Count',NULL,15826,NULL,NULL,NULL,6,NULL,NULL,NULL),(42531,'NCBI Gene PubMed Count',NULL,15827,NULL,NULL,NULL,9,NULL,NULL,NULL),(42532,'NCBI Gene Summary',NULL,15828,NULL,'This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(42533,'NCBI Gene PubMed Count',NULL,15828,NULL,NULL,NULL,2085,NULL,NULL,NULL),(42534,'NCBI Gene Summary',NULL,15829,NULL,'This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(42535,'NCBI Gene PubMed Count',NULL,15829,NULL,NULL,NULL,82,NULL,NULL,NULL),(42536,'NCBI Gene PubMed Count',NULL,15830,NULL,NULL,NULL,53,NULL,NULL,NULL),(42537,'NCBI Gene PubMed Count',NULL,15831,NULL,NULL,NULL,6,NULL,NULL,NULL),(42538,'NCBI Gene Summary',NULL,15832,NULL,'This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (PMID:20367554). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(42539,'NCBI Gene PubMed Count',NULL,15832,NULL,NULL,NULL,19,NULL,NULL,NULL),(42540,'NCBI Gene Summary',NULL,15833,NULL,'This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42541,'NCBI Gene PubMed Count',NULL,15833,NULL,NULL,NULL,21,NULL,NULL,NULL),(42542,'NCBI Gene Summary',NULL,15834,NULL,'This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(42543,'NCBI Gene PubMed Count',NULL,15834,NULL,NULL,NULL,118,NULL,NULL,NULL),(42544,'NCBI Gene Summary',NULL,15835,NULL,'This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(42545,'NCBI Gene PubMed Count',NULL,15835,NULL,NULL,NULL,21,NULL,NULL,NULL),(42546,'NCBI Gene Summary',NULL,15836,NULL,' Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins.  Alpha actinin is an actin-binding protein with multiple roles in different cell types.  In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane.  In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments.  This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes.  Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42547,'NCBI Gene PubMed Count',NULL,15836,NULL,NULL,NULL,163,NULL,NULL,NULL),(42548,'NCBI Gene Summary',NULL,15837,NULL,'This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5\' UTR, which is a steroid hormone receptor binding site. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42549,'NCBI Gene PubMed Count',NULL,15837,NULL,NULL,NULL,25,NULL,NULL,NULL),(42550,'NCBI Gene Summary',NULL,15838,NULL,'This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]',NULL,NULL,NULL,NULL,NULL),(42551,'NCBI Gene PubMed Count',NULL,15838,NULL,NULL,NULL,50,NULL,NULL,NULL),(42552,'NCBI Gene Summary',NULL,15839,NULL,'This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(42553,'NCBI Gene PubMed Count',NULL,15839,NULL,NULL,NULL,14,NULL,NULL,NULL),(42554,'NCBI Gene Summary',NULL,15840,NULL,'This gene is a member of the EGF-TM7 receptor gene family which is thought to play a role in leukocyte adhesion and migration. In other vertebrates, including nonhuman primates, this gene encodes a protein containing N-terminal EGF domains and a C-terminal transmembrane domain. Sequence evidence for the human gene, however, indicates nucleotide deletion in the genomic sequence would result in frameshift and early termination of translation. A protein expressed by this gene would be soluble rather than expressed on the cell surface. As the encoded protein has not been detected, this gene may represent a transcribed pseudogene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(42555,'NCBI Gene PubMed Count',NULL,15840,NULL,NULL,NULL,8,NULL,NULL,NULL),(42556,'NCBI Gene PubMed Count',NULL,15841,NULL,NULL,NULL,8,NULL,NULL,NULL),(42557,'NCBI Gene PubMed Count',NULL,15842,NULL,NULL,NULL,17,NULL,NULL,NULL),(42558,'NCBI Gene Summary',NULL,15843,NULL,'The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42559,'NCBI Gene PubMed Count',NULL,15843,NULL,NULL,NULL,5,NULL,NULL,NULL),(42560,'NCBI Gene Summary',NULL,15844,NULL,'This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(42561,'NCBI Gene PubMed Count',NULL,15844,NULL,NULL,NULL,18,NULL,NULL,NULL),(42562,'NCBI Gene Summary',NULL,15845,NULL,'This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(42563,'NCBI Gene PubMed Count',NULL,15845,NULL,NULL,NULL,98,NULL,NULL,NULL),(42564,'NCBI Gene PubMed Count',NULL,15846,NULL,NULL,NULL,13,NULL,NULL,NULL),(42565,'NCBI Gene Summary',NULL,15847,NULL,'MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(42566,'NCBI Gene PubMed Count',NULL,15847,NULL,NULL,NULL,84,NULL,NULL,NULL),(42567,'NCBI Gene Summary',NULL,15848,NULL,'Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42568,'NCBI Gene PubMed Count',NULL,15848,NULL,NULL,NULL,214,NULL,NULL,NULL),(42569,'NCBI Gene Summary',NULL,15849,NULL,'This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42570,'NCBI Gene PubMed Count',NULL,15849,NULL,NULL,NULL,36,NULL,NULL,NULL),(42571,'NCBI Gene Summary',NULL,15850,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(42572,'NCBI Gene PubMed Count',NULL,15850,NULL,NULL,NULL,97,NULL,NULL,NULL),(42573,'NCBI Gene Summary',NULL,15851,NULL,'This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42574,'NCBI Gene PubMed Count',NULL,15851,NULL,NULL,NULL,58,NULL,NULL,NULL),(42575,'NCBI Gene Summary',NULL,15852,NULL,'This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(42576,'NCBI Gene PubMed Count',NULL,15852,NULL,NULL,NULL,11,NULL,NULL,NULL),(42577,'NCBI Gene Summary',NULL,15853,NULL,'This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(42578,'NCBI Gene PubMed Count',NULL,15853,NULL,NULL,NULL,151,NULL,NULL,NULL),(42579,'NCBI Gene Summary',NULL,15854,NULL,'This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(42580,'NCBI Gene PubMed Count',NULL,15854,NULL,NULL,NULL,21,NULL,NULL,NULL),(42581,'NCBI Gene Summary',NULL,15855,NULL,'The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(42582,'NCBI Gene PubMed Count',NULL,15855,NULL,NULL,NULL,56,NULL,NULL,NULL),(42583,'NCBI Gene PubMed Count',NULL,15856,NULL,NULL,NULL,28,NULL,NULL,NULL),(42584,'NCBI Gene Summary',NULL,15857,NULL,'This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(42585,'NCBI Gene PubMed Count',NULL,15857,NULL,NULL,NULL,8,NULL,NULL,NULL),(42586,'NCBI Gene Summary',NULL,15858,NULL,'This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. Latrophilin-1 has been shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(42587,'NCBI Gene PubMed Count',NULL,15858,NULL,NULL,NULL,19,NULL,NULL,NULL),(42588,'NCBI Gene Summary',NULL,15859,NULL,'The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(42589,'NCBI Gene PubMed Count',NULL,15859,NULL,NULL,NULL,25,NULL,NULL,NULL),(42590,'NCBI Gene Summary',NULL,15860,NULL,'This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42591,'NCBI Gene PubMed Count',NULL,15860,NULL,NULL,NULL,216,NULL,NULL,NULL),(42592,'NCBI Gene Summary',NULL,15861,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(42593,'NCBI Gene PubMed Count',NULL,15861,NULL,NULL,NULL,141,NULL,NULL,NULL),(42594,'NCBI Gene PubMed Count',NULL,15862,NULL,NULL,NULL,3,NULL,NULL,NULL),(42595,'NCBI Gene Summary',NULL,15863,NULL,'This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(42596,'NCBI Gene PubMed Count',NULL,15863,NULL,NULL,NULL,18,NULL,NULL,NULL),(42597,'NCBI Gene Summary',NULL,15864,NULL,'Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators.  BAI1 contains at least one \'functional\' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42598,'NCBI Gene PubMed Count',NULL,15864,NULL,NULL,NULL,31,NULL,NULL,NULL),(42599,'NCBI Gene PubMed Count',NULL,15865,NULL,NULL,NULL,20,NULL,NULL,NULL),(42600,'NCBI Gene PubMed Count',NULL,15866,NULL,NULL,NULL,7,NULL,NULL,NULL),(42601,'NCBI Gene Summary',NULL,15867,NULL,'This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(42602,'NCBI Gene PubMed Count',NULL,15867,NULL,NULL,NULL,36,NULL,NULL,NULL),(42603,'NCBI Gene Summary',NULL,15868,NULL,'Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(42604,'NCBI Gene PubMed Count',NULL,15868,NULL,NULL,NULL,60,NULL,NULL,NULL),(42605,'NCBI Gene Summary',NULL,15869,NULL,'This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42606,'NCBI Gene PubMed Count',NULL,15869,NULL,NULL,NULL,23,NULL,NULL,NULL),(42607,'NCBI Gene Summary',NULL,15870,NULL,'This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(42608,'NCBI Gene PubMed Count',NULL,15870,NULL,NULL,NULL,142,NULL,NULL,NULL),(42609,'NCBI Gene Summary',NULL,15871,NULL,'The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42610,'NCBI Gene PubMed Count',NULL,15871,NULL,NULL,NULL,351,NULL,NULL,NULL),(42611,'NCBI Gene Summary',NULL,15872,NULL,'This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(42612,'NCBI Gene PubMed Count',NULL,15872,NULL,NULL,NULL,79,NULL,NULL,NULL),(42613,'NCBI Gene PubMed Count',NULL,15873,NULL,NULL,NULL,2,NULL,NULL,NULL),(42614,'NCBI Gene PubMed Count',NULL,15874,NULL,NULL,NULL,4,NULL,NULL,NULL),(42615,'NCBI Gene Summary',NULL,15875,NULL,'This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(42616,'NCBI Gene PubMed Count',NULL,15875,NULL,NULL,NULL,22,NULL,NULL,NULL),(42617,'NCBI Gene Summary',NULL,15876,NULL,'The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(42618,'NCBI Gene PubMed Count',NULL,15876,NULL,NULL,NULL,54,NULL,NULL,NULL),(42619,'NCBI Gene Summary',NULL,15877,NULL,'Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(42620,'NCBI Gene PubMed Count',NULL,15877,NULL,NULL,NULL,75,NULL,NULL,NULL),(42621,'NCBI Gene Summary',NULL,15878,NULL,'The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB\'s regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42622,'NCBI Gene PubMed Count',NULL,15878,NULL,NULL,NULL,27,NULL,NULL,NULL),(42623,'NCBI Gene PubMed Count',NULL,15879,NULL,NULL,NULL,3,NULL,NULL,NULL),(42624,'NCBI Gene Summary',NULL,15880,NULL,'This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42625,'NCBI Gene PubMed Count',NULL,15880,NULL,NULL,NULL,95,NULL,NULL,NULL),(42626,'NCBI Gene Summary',NULL,15881,NULL,'This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(42627,'NCBI Gene PubMed Count',NULL,15881,NULL,NULL,NULL,41,NULL,NULL,NULL),(42628,'NCBI Gene Summary',NULL,15882,NULL,'This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(42629,'NCBI Gene PubMed Count',NULL,15882,NULL,NULL,NULL,601,NULL,NULL,NULL),(42630,'NCBI Gene PubMed Count',NULL,15883,NULL,NULL,NULL,17,NULL,NULL,NULL),(42631,'NCBI Gene PubMed Count',NULL,15884,NULL,NULL,NULL,5,NULL,NULL,NULL),(42632,'NCBI Gene Summary',NULL,15885,NULL,'This gene encodes a putative transcriptional activator that is a member of the AF4\\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(42633,'NCBI Gene PubMed Count',NULL,15885,NULL,NULL,NULL,40,NULL,NULL,NULL),(42634,'NCBI Gene Summary',NULL,15886,NULL,'This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(42635,'NCBI Gene PubMed Count',NULL,15886,NULL,NULL,NULL,5,NULL,NULL,NULL),(42636,'NCBI Gene Summary',NULL,15887,NULL,'This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(42637,'NCBI Gene PubMed Count',NULL,15887,NULL,NULL,NULL,496,NULL,NULL,NULL),(42638,'NCBI Gene Summary',NULL,15888,NULL,'This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42639,'NCBI Gene PubMed Count',NULL,15888,NULL,NULL,NULL,33,NULL,NULL,NULL),(42640,'NCBI Gene PubMed Count',NULL,15889,NULL,NULL,NULL,3,NULL,NULL,NULL),(42641,'NCBI Gene PubMed Count',NULL,15890,NULL,NULL,NULL,13,NULL,NULL,NULL),(42642,'NCBI Gene PubMed Count',NULL,15891,NULL,NULL,NULL,14,NULL,NULL,NULL),(42643,'NCBI Gene PubMed Count',NULL,15892,NULL,NULL,NULL,2,NULL,NULL,NULL),(42644,'NCBI Gene Summary',NULL,15893,NULL,'This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(42645,'NCBI Gene PubMed Count',NULL,15893,NULL,NULL,NULL,26,NULL,NULL,NULL),(42646,'NCBI Gene Summary',NULL,15894,NULL,'Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42647,'NCBI Gene PubMed Count',NULL,15894,NULL,NULL,NULL,50,NULL,NULL,NULL),(42648,'NCBI Gene Summary',NULL,15895,NULL,'This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene expression is testis-specific. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(42649,'NCBI Gene PubMed Count',NULL,15895,NULL,NULL,NULL,5,NULL,NULL,NULL),(42650,'NCBI Gene Summary',NULL,15896,NULL,'This gene encodes a member of the Argonaute family of proteins which contain PAZ and PIWI domains and play an integral role in RNA interference and short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of related family members. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(42651,'NCBI Gene PubMed Count',NULL,15896,NULL,NULL,NULL,29,NULL,NULL,NULL),(42652,'NCBI Gene PubMed Count',NULL,15897,NULL,NULL,NULL,13,NULL,NULL,NULL),(42653,'NCBI Gene Summary',NULL,15898,NULL,'Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Multiple alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(42654,'NCBI Gene PubMed Count',NULL,15898,NULL,NULL,NULL,881,NULL,NULL,NULL),(42655,'NCBI Gene Summary',NULL,15899,NULL,'This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(42656,'NCBI Gene PubMed Count',NULL,15899,NULL,NULL,NULL,15,NULL,NULL,NULL),(42657,'NCBI Gene Summary',NULL,15900,NULL,'The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(42658,'NCBI Gene PubMed Count',NULL,15900,NULL,NULL,NULL,14,NULL,NULL,NULL),(42659,'NCBI Gene Summary',NULL,15901,NULL,'The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42660,'NCBI Gene PubMed Count',NULL,15901,NULL,NULL,NULL,43,NULL,NULL,NULL),(42661,'NCBI Gene PubMed Count',NULL,15902,NULL,NULL,NULL,6,NULL,NULL,NULL),(42662,'NCBI Gene PubMed Count',NULL,15903,NULL,NULL,NULL,11,NULL,NULL,NULL),(42663,'NCBI Gene Summary',NULL,15904,NULL,'ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(42664,'NCBI Gene PubMed Count',NULL,15904,NULL,NULL,NULL,17,NULL,NULL,NULL),(42665,'NCBI Gene Summary',NULL,15905,NULL,'The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42666,'NCBI Gene PubMed Count',NULL,15905,NULL,NULL,NULL,14,NULL,NULL,NULL),(42667,'NCBI Gene Summary',NULL,15906,NULL,'This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(42668,'NCBI Gene PubMed Count',NULL,15906,NULL,NULL,NULL,247,NULL,NULL,NULL),(42669,'NCBI Gene Summary',NULL,15907,NULL,'This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(42670,'NCBI Gene PubMed Count',NULL,15907,NULL,NULL,NULL,36,NULL,NULL,NULL),(42671,'NCBI Gene Summary',NULL,15908,NULL,'The adhesion G-protein-coupled receptors (GPCRs), including GPR133, are membrane-bound proteins with long N termini containing multiple domains. GPCRs, or GPRs, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (summary by Bjarnadottir et al., 2004 [PubMed 15203201]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(42672,'NCBI Gene PubMed Count',NULL,15908,NULL,NULL,NULL,16,NULL,NULL,NULL),(42673,'NCBI Gene Summary',NULL,15909,NULL,'This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42674,'NCBI Gene PubMed Count',NULL,15909,NULL,NULL,NULL,26,NULL,NULL,NULL),(42675,'NCBI Gene Summary',NULL,15910,NULL,'The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(42676,'NCBI Gene PubMed Count',NULL,15910,NULL,NULL,NULL,518,NULL,NULL,NULL),(42677,'NCBI Gene Summary',NULL,15911,NULL,'Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(42678,'NCBI Gene PubMed Count',NULL,15911,NULL,NULL,NULL,32,NULL,NULL,NULL),(42679,'NCBI Gene Summary',NULL,15912,NULL,'This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(42680,'NCBI Gene PubMed Count',NULL,15912,NULL,NULL,NULL,56,NULL,NULL,NULL),(42681,'NCBI Gene Summary',NULL,15913,NULL,' AIM2 is a member of the IFI20X /IFI16 family.  It plays a putative role in tumorigenic reversion and may control cell proliferation.  Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42682,'NCBI Gene PubMed Count',NULL,15913,NULL,NULL,NULL,85,NULL,NULL,NULL),(42683,'NCBI Gene Summary',NULL,15914,NULL,'This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(42684,'NCBI Gene PubMed Count',NULL,15914,NULL,NULL,NULL,20,NULL,NULL,NULL),(42685,'NCBI Gene Summary',NULL,15915,NULL,'This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(42686,'NCBI Gene PubMed Count',NULL,15915,NULL,NULL,NULL,20,NULL,NULL,NULL),(42687,'NCBI Gene PubMed Count',NULL,15916,NULL,NULL,NULL,3,NULL,NULL,NULL),(42688,'NCBI Gene Summary',NULL,15917,NULL,'The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(42689,'NCBI Gene PubMed Count',NULL,15917,NULL,NULL,NULL,44,NULL,NULL,NULL),(42690,'NCBI Gene Summary',NULL,15918,NULL,'This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(42691,'NCBI Gene PubMed Count',NULL,15918,NULL,NULL,NULL,73,NULL,NULL,NULL),(42692,'NCBI Gene Summary',NULL,15919,NULL,'This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(42693,'NCBI Gene PubMed Count',NULL,15919,NULL,NULL,NULL,17,NULL,NULL,NULL),(42694,'NCBI Gene Summary',NULL,15920,NULL,'This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(42695,'NCBI Gene PubMed Count',NULL,15920,NULL,NULL,NULL,62,NULL,NULL,NULL),(42696,'NCBI Gene Summary',NULL,15921,NULL,'This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(42697,'NCBI Gene PubMed Count',NULL,15921,NULL,NULL,NULL,15,NULL,NULL,NULL),(42698,'NCBI Gene Summary',NULL,15922,NULL,'AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(42699,'NCBI Gene PubMed Count',NULL,15922,NULL,NULL,NULL,40,NULL,NULL,NULL),(42700,'NCBI Gene Summary',NULL,15923,NULL,'The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(42701,'NCBI Gene PubMed Count',NULL,15923,NULL,NULL,NULL,10,NULL,NULL,NULL),(42702,'NCBI Gene Summary',NULL,15924,NULL,'This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(42703,'NCBI Gene PubMed Count',NULL,15924,NULL,NULL,NULL,172,NULL,NULL,NULL),(42704,'NCBI Gene Summary',NULL,15925,NULL,'This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42705,'NCBI Gene PubMed Count',NULL,15925,NULL,NULL,NULL,35,NULL,NULL,NULL),(42706,'NCBI Gene Summary',NULL,15926,NULL,'The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(42707,'NCBI Gene PubMed Count',NULL,15926,NULL,NULL,NULL,29,NULL,NULL,NULL),(42708,'NCBI Gene Summary',NULL,15927,NULL,'This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(42709,'NCBI Gene PubMed Count',NULL,15927,NULL,NULL,NULL,111,NULL,NULL,NULL),(42710,'NCBI Gene Summary',NULL,15928,NULL,'This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(42711,'NCBI Gene PubMed Count',NULL,15928,NULL,NULL,NULL,8,NULL,NULL,NULL),(42712,'NCBI Gene Summary',NULL,15929,NULL,'This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(42713,'NCBI Gene PubMed Count',NULL,15929,NULL,NULL,NULL,13,NULL,NULL,NULL),(42714,'NCBI Gene Summary',NULL,15930,NULL,'Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42715,'NCBI Gene PubMed Count',NULL,15930,NULL,NULL,NULL,73,NULL,NULL,NULL),(42716,'NCBI Gene PubMed Count',NULL,15931,NULL,NULL,NULL,23,NULL,NULL,NULL),(42717,'NCBI Gene PubMed Count',NULL,15932,NULL,NULL,NULL,3,NULL,NULL,NULL),(42718,'NCBI Gene Summary',NULL,15933,NULL,'The protein encoded by this gene is a member of the ADP/ATP carrier family of proteins that exchange cytosolic ADP for matrix ATP in the mitochondria. Cells over-expressing this gene have been shown to display an anti-apoptotic phenotype. This protein is also thought to play a role in spermatogenesis, where it is believed to associate with a part of the flagellar cytoskeleton and with glycolytic enzymes. Male mice with mutations in the mouse ortholog of this gene are sterile and spermatocytes display an early meiotic arrest phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(42719,'NCBI Gene PubMed Count',NULL,15933,NULL,NULL,NULL,18,NULL,NULL,NULL),(42720,'NCBI Gene Summary',NULL,15934,NULL,'Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42721,'NCBI Gene PubMed Count',NULL,15934,NULL,NULL,NULL,120,NULL,NULL,NULL),(42722,'NCBI Gene Summary',NULL,15935,NULL,'The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(42723,'NCBI Gene PubMed Count',NULL,15935,NULL,NULL,NULL,36,NULL,NULL,NULL),(42724,'NCBI Gene Summary',NULL,15936,NULL,'This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(42725,'NCBI Gene PubMed Count',NULL,15936,NULL,NULL,NULL,66,NULL,NULL,NULL),(42726,'NCBI Gene Summary',NULL,15937,NULL,'The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42727,'NCBI Gene PubMed Count',NULL,15937,NULL,NULL,NULL,32,NULL,NULL,NULL),(42728,'NCBI Gene Summary',NULL,15938,NULL,'This gene encodes a G-protein coupled receptor belonging to a large family of diverse integral membrane proteins that participate in various physiological functions. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The ligand for this family member is unknown, and it is therefore an orphan receptor. This receptor is known to be expressed in normal enterochromaffin cells and in gastrointestinal neuroendocrine carcinoma cells, and it is therefore considered to be a novel biomarker or target for immunotherapy. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(42729,'NCBI Gene PubMed Count',NULL,15938,NULL,NULL,NULL,7,NULL,NULL,NULL),(42730,'NCBI Gene PubMed Count',NULL,15939,NULL,NULL,NULL,23,NULL,NULL,NULL),(42731,'NCBI Gene Summary',NULL,15940,NULL,'This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(42732,'NCBI Gene PubMed Count',NULL,15940,NULL,NULL,NULL,13,NULL,NULL,NULL),(42733,'NCBI Gene PubMed Count',NULL,15941,NULL,NULL,NULL,20,NULL,NULL,NULL),(42734,'NCBI Gene Summary',NULL,15942,NULL,'This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42735,'NCBI Gene PubMed Count',NULL,15942,NULL,NULL,NULL,70,NULL,NULL,NULL),(42736,'NCBI Gene Summary',NULL,15943,NULL,'This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(42737,'NCBI Gene PubMed Count',NULL,15943,NULL,NULL,NULL,22,NULL,NULL,NULL),(42738,'NCBI Gene Summary',NULL,15944,NULL,'The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(42739,'NCBI Gene PubMed Count',NULL,15944,NULL,NULL,NULL,29,NULL,NULL,NULL),(42740,'NCBI Gene Summary',NULL,15945,NULL,'This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(42741,'NCBI Gene PubMed Count',NULL,15945,NULL,NULL,NULL,20,NULL,NULL,NULL),(42742,'NCBI Gene PubMed Count',NULL,15946,NULL,NULL,NULL,7,NULL,NULL,NULL),(42743,'NCBI Gene PubMed Count',NULL,15947,NULL,NULL,NULL,25,NULL,NULL,NULL),(42744,'NCBI Gene Summary',NULL,15948,NULL,'This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This gene is expressed in ciliated airway epithelial cells and, in mouse, plays a role in ciliary beat frequency in multiciliated cells. This gene is also over-expressed in breast, ovarian, and prostrate cancers. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(42745,'NCBI Gene PubMed Count',NULL,15948,NULL,NULL,NULL,23,NULL,NULL,NULL),(42746,'NCBI Gene Summary',NULL,15949,NULL,'This gene encodes a member of the calcitonin gene-related peptide (CGRP)/calcitonin family of hormones that play a role in the regulation of cardiovascular homeostasis, prolactin release, anti-diuresis, anti-natriuresis, and regulation of food and water intake. The encoded protein is proteolytically processed to generate one or more biologically active peptides. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(42747,'NCBI Gene PubMed Count',NULL,15949,NULL,NULL,NULL,48,NULL,NULL,NULL),(42748,'NCBI Gene Summary',NULL,15950,NULL,'This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(42749,'NCBI Gene PubMed Count',NULL,15950,NULL,NULL,NULL,234,NULL,NULL,NULL),(42750,'NCBI Gene PubMed Count',NULL,15951,NULL,NULL,NULL,9,NULL,NULL,NULL),(42751,'NCBI Gene Summary',NULL,15952,NULL,'The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked cognitive disability. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(42752,'NCBI Gene PubMed Count',NULL,15952,NULL,NULL,NULL,215,NULL,NULL,NULL),(42753,'NCBI Gene Summary',NULL,15953,NULL,'The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(42754,'NCBI Gene PubMed Count',NULL,15953,NULL,NULL,NULL,76,NULL,NULL,NULL),(42755,'NCBI Gene PubMed Count',NULL,15954,NULL,NULL,NULL,2,NULL,NULL,NULL),(42756,'NCBI Gene Summary',NULL,15955,NULL,'The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(42757,'NCBI Gene PubMed Count',NULL,15955,NULL,NULL,NULL,21,NULL,NULL,NULL),(42758,'NCBI Gene Summary',NULL,15956,NULL,'The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42759,'NCBI Gene PubMed Count',NULL,15956,NULL,NULL,NULL,25,NULL,NULL,NULL),(42760,'NCBI Gene Summary',NULL,15957,NULL,'The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(42761,'NCBI Gene PubMed Count',NULL,15957,NULL,NULL,NULL,60,NULL,NULL,NULL),(42762,'NCBI Gene Summary',NULL,15958,NULL,'The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(42763,'NCBI Gene PubMed Count',NULL,15958,NULL,NULL,NULL,27,NULL,NULL,NULL),(42764,'NCBI Gene PubMed Count',NULL,15959,NULL,NULL,NULL,8,NULL,NULL,NULL),(42765,'NCBI Gene Summary',NULL,15960,NULL,'This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(42766,'NCBI Gene PubMed Count',NULL,15960,NULL,NULL,NULL,43,NULL,NULL,NULL),(42767,'NCBI Gene PubMed Count',NULL,15961,NULL,NULL,NULL,28,NULL,NULL,NULL),(42768,'NCBI Gene Summary',NULL,15962,NULL,'This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. The gene was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42769,'NCBI Gene PubMed Count',NULL,15962,NULL,NULL,NULL,267,NULL,NULL,NULL),(42770,'NCBI Gene Summary',NULL,15963,NULL,'The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42771,'NCBI Gene PubMed Count',NULL,15963,NULL,NULL,NULL,92,NULL,NULL,NULL),(42772,'NCBI Gene PubMed Count',NULL,15964,NULL,NULL,NULL,1,NULL,NULL,NULL),(42773,'NCBI Gene Summary',NULL,15965,NULL,'The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy\'s disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(42774,'NCBI Gene PubMed Count',NULL,15965,NULL,NULL,NULL,2095,NULL,NULL,NULL),(42775,'NCBI Gene Summary',NULL,15966,NULL,'This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42776,'NCBI Gene PubMed Count',NULL,15966,NULL,NULL,NULL,82,NULL,NULL,NULL),(42777,'NCBI Gene Summary',NULL,15967,NULL,'This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(42778,'NCBI Gene PubMed Count',NULL,15967,NULL,NULL,NULL,261,NULL,NULL,NULL),(42779,'NCBI Gene Summary',NULL,15968,NULL,'Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(42780,'NCBI Gene PubMed Count',NULL,15968,NULL,NULL,NULL,15,NULL,NULL,NULL),(42781,'NCBI Gene Summary',NULL,15969,NULL,'This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(42782,'NCBI Gene PubMed Count',NULL,15969,NULL,NULL,NULL,37,NULL,NULL,NULL),(42783,'NCBI Gene Summary',NULL,15970,NULL,'The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42784,'NCBI Gene PubMed Count',NULL,15970,NULL,NULL,NULL,167,NULL,NULL,NULL),(42785,'NCBI Gene PubMed Count',NULL,15971,NULL,NULL,NULL,10,NULL,NULL,NULL),(42786,'NCBI Gene Summary',NULL,15972,NULL,'This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(42787,'NCBI Gene PubMed Count',NULL,15972,NULL,NULL,NULL,41,NULL,NULL,NULL),(42788,'NCBI Gene Summary',NULL,15973,NULL,'Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42789,'NCBI Gene PubMed Count',NULL,15973,NULL,NULL,NULL,49,NULL,NULL,NULL),(42790,'NCBI Gene Summary',NULL,15974,NULL,'The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42791,'NCBI Gene PubMed Count',NULL,15974,NULL,NULL,NULL,76,NULL,NULL,NULL),(42792,'NCBI Gene Summary',NULL,15975,NULL,'This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42793,'NCBI Gene PubMed Count',NULL,15975,NULL,NULL,NULL,15,NULL,NULL,NULL),(42794,'NCBI Gene Summary',NULL,15976,NULL,'Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related \'housekeeping\' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(42795,'NCBI Gene PubMed Count',NULL,15976,NULL,NULL,NULL,57,NULL,NULL,NULL),(42796,'NCBI Gene Summary',NULL,15977,NULL,'Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42797,'NCBI Gene PubMed Count',NULL,15977,NULL,NULL,NULL,136,NULL,NULL,NULL),(42798,'NCBI Gene Summary',NULL,15978,NULL,'This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(42799,'NCBI Gene PubMed Count',NULL,15978,NULL,NULL,NULL,55,NULL,NULL,NULL),(42800,'NCBI Gene Summary',NULL,15979,NULL,'The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(42801,'NCBI Gene PubMed Count',NULL,15979,NULL,NULL,NULL,15,NULL,NULL,NULL),(42802,'NCBI Gene Summary',NULL,15980,NULL,'The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(42803,'NCBI Gene PubMed Count',NULL,15980,NULL,NULL,NULL,257,NULL,NULL,NULL),(42804,'NCBI Gene Summary',NULL,15981,NULL,'This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42805,'NCBI Gene PubMed Count',NULL,15981,NULL,NULL,NULL,59,NULL,NULL,NULL),(42806,'NCBI Gene PubMed Count',NULL,15982,NULL,NULL,NULL,9,NULL,NULL,NULL),(42807,'NCBI Gene PubMed Count',NULL,15983,NULL,NULL,NULL,6,NULL,NULL,NULL),(42808,'NCBI Gene PubMed Count',NULL,15984,NULL,NULL,NULL,5,NULL,NULL,NULL),(42809,'NCBI Gene Summary',NULL,15985,NULL,'The protein encoded by this gene is an exceedingly potent mediator of new blood vessel formation. It hydrolyzes cellular tRNAs resulting in decreased protein synthesis and is similar to pancreatic ribonuclease. In addition, the mature peptide has antimicrobial activity against some bacteria and fungi, including S. pneumoniae and C. albicans. Alternative splicing results in two transcript variants encoding the same protein. This gene and the gene that encodes ribonuclease, RNase A family, 4 share promoters and 5\' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(42810,'NCBI Gene PubMed Count',NULL,15985,NULL,NULL,NULL,191,NULL,NULL,NULL),(42811,'NCBI Gene Summary',NULL,15986,NULL,'This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(42812,'NCBI Gene PubMed Count',NULL,15986,NULL,NULL,NULL,41,NULL,NULL,NULL),(42813,'NCBI Gene Summary',NULL,15987,NULL,'This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(42814,'NCBI Gene PubMed Count',NULL,15987,NULL,NULL,NULL,19,NULL,NULL,NULL),(42815,'NCBI Gene Summary',NULL,15988,NULL,'This gene encodes a type II methyltransferase. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to the guanidino nitrogen atoms of arginine. The protein encoded by this gene methylates spliceosome associated protein 145 to regulate alternative splicing and acts as a modulator of small nuclear ribonucleoprotein maturation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(42816,'NCBI Gene PubMed Count',NULL,15988,NULL,NULL,NULL,12,NULL,NULL,NULL),(42817,'NCBI Gene Summary',NULL,15989,NULL,'Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42818,'NCBI Gene PubMed Count',NULL,15989,NULL,NULL,NULL,33,NULL,NULL,NULL),(42819,'NCBI Gene Summary',NULL,15990,NULL,'The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(42820,'NCBI Gene PubMed Count',NULL,15990,NULL,NULL,NULL,26,NULL,NULL,NULL),(42821,'NCBI Gene Summary',NULL,15991,NULL,'The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(42822,'NCBI Gene PubMed Count',NULL,15991,NULL,NULL,NULL,2862,NULL,NULL,NULL),(42823,'NCBI Gene Summary',NULL,15992,NULL,'This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5\' exons. Some transcripts contain a differentially methylated region (DMR) at their 5\' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(42824,'NCBI Gene PubMed Count',NULL,15992,NULL,NULL,NULL,462,NULL,NULL,NULL),(42825,'NCBI Gene Summary',NULL,15993,NULL,'This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(42826,'NCBI Gene PubMed Count',NULL,15993,NULL,NULL,NULL,29,NULL,NULL,NULL),(42827,'NCBI Gene PubMed Count',NULL,15994,NULL,NULL,NULL,5,NULL,NULL,NULL),(42828,'NCBI Gene PubMed Count',NULL,15995,NULL,NULL,NULL,3,NULL,NULL,NULL),(42829,'NCBI Gene Summary',NULL,15996,NULL,'This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42830,'NCBI Gene PubMed Count',NULL,15996,NULL,NULL,NULL,15,NULL,NULL,NULL),(42831,'NCBI Gene Summary',NULL,15997,NULL,'This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(42832,'NCBI Gene PubMed Count',NULL,15997,NULL,NULL,NULL,19,NULL,NULL,NULL),(42833,'NCBI Gene Summary',NULL,15998,NULL,'Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]',NULL,NULL,NULL,NULL,NULL),(42834,'NCBI Gene PubMed Count',NULL,15998,NULL,NULL,NULL,80,NULL,NULL,NULL),(42835,'NCBI Gene Summary',NULL,15999,NULL,'Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3\'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42836,'NCBI Gene PubMed Count',NULL,15999,NULL,NULL,NULL,55,NULL,NULL,NULL),(42837,'NCBI Gene Summary',NULL,16000,NULL,'The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42838,'NCBI Gene PubMed Count',NULL,16000,NULL,NULL,NULL,63,NULL,NULL,NULL),(42839,'NCBI Gene Summary',NULL,16001,NULL,'The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(42840,'NCBI Gene PubMed Count',NULL,16001,NULL,NULL,NULL,126,NULL,NULL,NULL),(42841,'NCBI Gene PubMed Count',NULL,16002,NULL,NULL,NULL,12,NULL,NULL,NULL),(42842,'NCBI Gene Summary',NULL,16003,NULL,'Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42843,'NCBI Gene PubMed Count',NULL,16003,NULL,NULL,NULL,25,NULL,NULL,NULL),(42844,'NCBI Gene Summary',NULL,16004,NULL,'The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(42845,'NCBI Gene PubMed Count',NULL,16004,NULL,NULL,NULL,41,NULL,NULL,NULL),(42846,'NCBI Gene Summary',NULL,16005,NULL,'The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42847,'NCBI Gene PubMed Count',NULL,16005,NULL,NULL,NULL,52,NULL,NULL,NULL),(42848,'NCBI Gene Summary',NULL,16006,NULL,'The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(42849,'NCBI Gene PubMed Count',NULL,16006,NULL,NULL,NULL,724,NULL,NULL,NULL),(42850,'NCBI Gene Summary',NULL,16007,NULL,'This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(42851,'NCBI Gene PubMed Count',NULL,16007,NULL,NULL,NULL,124,NULL,NULL,NULL),(42852,'NCBI Gene PubMed Count',NULL,16008,NULL,NULL,NULL,15,NULL,NULL,NULL),(42853,'NCBI Gene Summary',NULL,16009,NULL,'This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(42854,'NCBI Gene PubMed Count',NULL,16009,NULL,NULL,NULL,15,NULL,NULL,NULL),(42855,'NCBI Gene PubMed Count',NULL,16010,NULL,NULL,NULL,0,NULL,NULL,NULL),(42856,'NCBI Gene Summary',NULL,16011,NULL,'This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(42857,'NCBI Gene PubMed Count',NULL,16011,NULL,NULL,NULL,19,NULL,NULL,NULL),(42858,'NCBI Gene Summary',NULL,16012,NULL,'The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(42859,'NCBI Gene PubMed Count',NULL,16012,NULL,NULL,NULL,25,NULL,NULL,NULL),(42860,'NCBI Gene Summary',NULL,16013,NULL,'Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(42861,'NCBI Gene PubMed Count',NULL,16013,NULL,NULL,NULL,98,NULL,NULL,NULL),(42862,'NCBI Gene PubMed Count',NULL,16014,NULL,NULL,NULL,4,NULL,NULL,NULL),(42863,'NCBI Gene Summary',NULL,16015,NULL,'This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cardiac natriuretic peptides CNP-53, CNP-29 and CNP-22, which belong to the natriuretic family of peptides. The encoded peptides exhibit vasorelaxation activity in laboratory animals and elevated levels of CNP-22 have been observed in the plasma of chronic heart failure patients. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(42864,'NCBI Gene PubMed Count',NULL,16015,NULL,NULL,NULL,99,NULL,NULL,NULL),(42865,'NCBI Gene PubMed Count',NULL,16016,NULL,NULL,NULL,152,NULL,NULL,NULL),(42866,'NCBI Gene Summary',NULL,16017,NULL,'The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(42867,'NCBI Gene PubMed Count',NULL,16017,NULL,NULL,NULL,8,NULL,NULL,NULL),(42868,'NCBI Gene PubMed Count',NULL,16018,NULL,NULL,NULL,5,NULL,NULL,NULL),(42869,'NCBI Gene Summary',NULL,16019,NULL,'This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(42870,'NCBI Gene PubMed Count',NULL,16019,NULL,NULL,NULL,77,NULL,NULL,NULL),(42871,'NCBI Gene Summary',NULL,16020,NULL,'This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(42872,'NCBI Gene PubMed Count',NULL,16020,NULL,NULL,NULL,7,NULL,NULL,NULL),(42873,'NCBI Gene PubMed Count',NULL,16021,NULL,NULL,NULL,8,NULL,NULL,NULL),(42874,'NCBI Gene PubMed Count',NULL,16022,NULL,NULL,NULL,19,NULL,NULL,NULL),(42875,'NCBI Gene PubMed Count',NULL,16023,NULL,NULL,NULL,10,NULL,NULL,NULL),(42876,'NCBI Gene Summary',NULL,16024,NULL,'This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(42877,'NCBI Gene PubMed Count',NULL,16024,NULL,NULL,NULL,20,NULL,NULL,NULL),(42878,'NCBI Gene PubMed Count',NULL,16025,NULL,NULL,NULL,2,NULL,NULL,NULL),(42879,'NCBI Gene Summary',NULL,16026,NULL,'This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene\'s promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42880,'NCBI Gene PubMed Count',NULL,16026,NULL,NULL,NULL,13,NULL,NULL,NULL),(42881,'NCBI Gene PubMed Count',NULL,16027,NULL,NULL,NULL,23,NULL,NULL,NULL),(42882,'NCBI Gene Summary',NULL,16028,NULL,'Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(42883,'NCBI Gene PubMed Count',NULL,16028,NULL,NULL,NULL,28,NULL,NULL,NULL),(42884,'NCBI Gene PubMed Count',NULL,16029,NULL,NULL,NULL,8,NULL,NULL,NULL),(42885,'NCBI Gene PubMed Count',NULL,16030,NULL,NULL,NULL,21,NULL,NULL,NULL),(42886,'NCBI Gene PubMed Count',NULL,16031,NULL,NULL,NULL,39,NULL,NULL,NULL),(42887,'NCBI Gene PubMed Count',NULL,16032,NULL,NULL,NULL,45,NULL,NULL,NULL),(42888,'NCBI Gene Summary',NULL,16033,NULL,'The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(42889,'NCBI Gene PubMed Count',NULL,16033,NULL,NULL,NULL,22,NULL,NULL,NULL),(42890,'NCBI Gene Summary',NULL,16034,NULL,'Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42891,'NCBI Gene PubMed Count',NULL,16034,NULL,NULL,NULL,10,NULL,NULL,NULL),(42892,'NCBI Gene Summary',NULL,16035,NULL,'This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(42893,'NCBI Gene PubMed Count',NULL,16035,NULL,NULL,NULL,39,NULL,NULL,NULL),(42894,'NCBI Gene PubMed Count',NULL,16036,NULL,NULL,NULL,10,NULL,NULL,NULL),(42895,'NCBI Gene Summary',NULL,16037,NULL,'This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(42896,'NCBI Gene PubMed Count',NULL,16037,NULL,NULL,NULL,551,NULL,NULL,NULL),(42897,'NCBI Gene PubMed Count',NULL,16038,NULL,NULL,NULL,18,NULL,NULL,NULL),(42898,'NCBI Gene PubMed Count',NULL,16039,NULL,NULL,NULL,11,NULL,NULL,NULL),(42899,'NCBI Gene PubMed Count',NULL,16040,NULL,NULL,NULL,10,NULL,NULL,NULL),(42900,'NCBI Gene Summary',NULL,16041,NULL,'This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(42901,'NCBI Gene PubMed Count',NULL,16041,NULL,NULL,NULL,164,NULL,NULL,NULL),(42902,'NCBI Gene Summary',NULL,16042,NULL,'This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(42903,'NCBI Gene PubMed Count',NULL,16042,NULL,NULL,NULL,11,NULL,NULL,NULL),(42904,'NCBI Gene Summary',NULL,16043,NULL,'This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(42905,'NCBI Gene PubMed Count',NULL,16043,NULL,NULL,NULL,56,NULL,NULL,NULL),(42906,'NCBI Gene PubMed Count',NULL,16044,NULL,NULL,NULL,12,NULL,NULL,NULL),(42907,'NCBI Gene Summary',NULL,16045,NULL,'The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(42908,'NCBI Gene PubMed Count',NULL,16045,NULL,NULL,NULL,17,NULL,NULL,NULL),(42909,'NCBI Gene Summary',NULL,16046,NULL,'This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(42910,'NCBI Gene PubMed Count',NULL,16046,NULL,NULL,NULL,64,NULL,NULL,NULL),(42911,'NCBI Gene Summary',NULL,16047,NULL,'This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(42912,'NCBI Gene PubMed Count',NULL,16047,NULL,NULL,NULL,46,NULL,NULL,NULL),(42913,'NCBI Gene PubMed Count',NULL,16048,NULL,NULL,NULL,13,NULL,NULL,NULL),(42914,'NCBI Gene Summary',NULL,16049,NULL,'Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is divergent between PP32 and the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42915,'NCBI Gene PubMed Count',NULL,16049,NULL,NULL,NULL,13,NULL,NULL,NULL),(42916,'NCBI Gene Summary',NULL,16050,NULL,'This gene encodes a secreted glycoprotein that belongs to the angiopoietin family. Members of this family play important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(42917,'NCBI Gene PubMed Count',NULL,16050,NULL,NULL,NULL,287,NULL,NULL,NULL),(42918,'NCBI Gene Summary',NULL,16051,NULL,'The protein encoded by this gene is an antagonist of angiopoietin 1 (ANGPT1) and endothelial TEK tyrosine kinase (TIE-2, TEK). The encoded protein disrupts the vascular remodeling ability of ANGPT1 and may induce endothelial cell apoptosis. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42919,'NCBI Gene PubMed Count',NULL,16051,NULL,NULL,NULL,406,NULL,NULL,NULL),(42920,'NCBI Gene PubMed Count',NULL,16052,NULL,NULL,NULL,8,NULL,NULL,NULL),(42921,'NCBI Gene PubMed Count',NULL,16053,NULL,NULL,NULL,10,NULL,NULL,NULL),(42922,'NCBI Gene Summary',NULL,16054,NULL,'Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(42923,'NCBI Gene PubMed Count',NULL,16054,NULL,NULL,NULL,31,NULL,NULL,NULL),(42924,'NCBI Gene Summary',NULL,16055,NULL,'The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42925,'NCBI Gene PubMed Count',NULL,16055,NULL,NULL,NULL,68,NULL,NULL,NULL),(42926,'NCBI Gene Summary',NULL,16056,NULL,'The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(42927,'NCBI Gene PubMed Count',NULL,16056,NULL,NULL,NULL,64,NULL,NULL,NULL),(42928,'NCBI Gene Summary',NULL,16057,NULL,'This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryptophan. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. In addition, this enzyme has been shown to catalyze the conversion of 2-aminomuconic semialdehyde to 2-aminomuconate in the kynurenine pathway of tryptophan catabolism. [provided by RefSeq, Jul 2018]',NULL,NULL,NULL,NULL,NULL),(42929,'NCBI Gene PubMed Count',NULL,16057,NULL,NULL,NULL,9,NULL,NULL,NULL),(42930,'NCBI Gene Summary',NULL,16058,NULL,'This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(42931,'NCBI Gene PubMed Count',NULL,16058,NULL,NULL,NULL,43,NULL,NULL,NULL),(42932,'NCBI Gene Summary',NULL,16059,NULL,'The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(42933,'NCBI Gene PubMed Count',NULL,16059,NULL,NULL,NULL,68,NULL,NULL,NULL),(42934,'NCBI Gene Summary',NULL,16060,NULL,'This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(42935,'NCBI Gene PubMed Count',NULL,16060,NULL,NULL,NULL,14,NULL,NULL,NULL),(42936,'NCBI Gene Summary',NULL,16061,NULL,'This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(42937,'NCBI Gene PubMed Count',NULL,16061,NULL,NULL,NULL,26,NULL,NULL,NULL),(42938,'NCBI Gene PubMed Count',NULL,16062,NULL,NULL,NULL,21,NULL,NULL,NULL),(42939,'NCBI Gene Summary',NULL,16063,NULL,'The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(42940,'NCBI Gene PubMed Count',NULL,16063,NULL,NULL,NULL,54,NULL,NULL,NULL),(42941,'NCBI Gene PubMed Count',NULL,16064,NULL,NULL,NULL,6,NULL,NULL,NULL),(42942,'NCBI Gene PubMed Count',NULL,16065,NULL,NULL,NULL,4,NULL,NULL,NULL),(42943,'NCBI Gene PubMed Count',NULL,16066,NULL,NULL,NULL,6,NULL,NULL,NULL),(42944,'NCBI Gene PubMed Count',NULL,16067,NULL,NULL,NULL,7,NULL,NULL,NULL),(42945,'NCBI Gene Summary',NULL,16068,NULL,'This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(42946,'NCBI Gene PubMed Count',NULL,16068,NULL,NULL,NULL,58,NULL,NULL,NULL),(42947,'NCBI Gene PubMed Count',NULL,16069,NULL,NULL,NULL,10,NULL,NULL,NULL),(42948,'NCBI Gene Summary',NULL,16070,NULL,'This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42949,'NCBI Gene PubMed Count',NULL,16070,NULL,NULL,NULL,22,NULL,NULL,NULL),(42950,'NCBI Gene Summary',NULL,16071,NULL,'The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(42951,'NCBI Gene PubMed Count',NULL,16071,NULL,NULL,NULL,296,NULL,NULL,NULL),(42952,'NCBI Gene PubMed Count',NULL,16072,NULL,NULL,NULL,29,NULL,NULL,NULL),(42953,'NCBI Gene PubMed Count',NULL,16073,NULL,NULL,NULL,3,NULL,NULL,NULL),(42954,'NCBI Gene PubMed Count',NULL,16074,NULL,NULL,NULL,2,NULL,NULL,NULL),(42955,'NCBI Gene Summary',NULL,16075,NULL,'The protein encoded by this gene binds to the regulatory subunit of protein kinase A and is found associated with the actin cytoskeleton. The encoded protein mediates signals carried by cAMP and may be involved in creating polarity in certain signaling processes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(42956,'NCBI Gene PubMed Count',NULL,16075,NULL,NULL,NULL,21,NULL,NULL,NULL),(42957,'NCBI Gene Summary',NULL,16076,NULL,'This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(42958,'NCBI Gene PubMed Count',NULL,16076,NULL,NULL,NULL,68,NULL,NULL,NULL),(42959,'NCBI Gene Summary',NULL,16077,NULL,'The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(42960,'NCBI Gene PubMed Count',NULL,16077,NULL,NULL,NULL,14,NULL,NULL,NULL),(42961,'NCBI Gene PubMed Count',NULL,16078,NULL,NULL,NULL,10,NULL,NULL,NULL),(42962,'NCBI Gene Summary',NULL,16079,NULL,'Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(42963,'NCBI Gene PubMed Count',NULL,16079,NULL,NULL,NULL,26,NULL,NULL,NULL),(42964,'NCBI Gene PubMed Count',NULL,16080,NULL,NULL,NULL,12,NULL,NULL,NULL),(42965,'NCBI Gene Summary',NULL,16081,NULL,'The protein encoded by this gene belongs to the arginine N-methyltransferase family, which catalyze the sequential transfer of methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins, to form methylated arginine derivatives and S-adenosyl-L-homocysteine. This protein can catalyze both, the formation of omega-N monomethylarginine and asymmetrical dimethylarginine, with a strong preference for the latter. It specifically mediates the asymmetric dimethylation of Arg2 of histone H3, and the methylated form represents a specific tag for epigenetic transcriptional repression. This protein also forms a complex with, and methylates DNA polymerase beta, resulting in stimulation of polymerase activity by enhancing DNA binding and processivity. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(42966,'NCBI Gene PubMed Count',NULL,16081,NULL,NULL,NULL,53,NULL,NULL,NULL),(42967,'NCBI Gene Summary',NULL,16082,NULL,'This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(42968,'NCBI Gene PubMed Count',NULL,16082,NULL,NULL,NULL,27,NULL,NULL,NULL),(42969,'NCBI Gene PubMed Count',NULL,16083,NULL,NULL,NULL,2,NULL,NULL,NULL),(42970,'NCBI Gene PubMed Count',NULL,16084,NULL,NULL,NULL,4,NULL,NULL,NULL),(42971,'NCBI Gene Summary',NULL,16085,NULL,'Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42972,'NCBI Gene PubMed Count',NULL,16085,NULL,NULL,NULL,65,NULL,NULL,NULL),(42973,'NCBI Gene Summary',NULL,16086,NULL,'This gene encodes a member of the G protein-coupled receptor superfamily. This membrane protein may play a role in tumor angiogenesis through its interaction with the human homolog of the Drosophila disc large tumor suppressor gene. This gene is mapped to a candidate region of chromosome 4 which may be associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(42974,'NCBI Gene PubMed Count',NULL,16086,NULL,NULL,NULL,14,NULL,NULL,NULL),(42975,'NCBI Gene Summary',NULL,16087,NULL,'The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(42976,'NCBI Gene PubMed Count',NULL,16087,NULL,NULL,NULL,34,NULL,NULL,NULL),(42977,'NCBI Gene Summary',NULL,16088,NULL,'This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(42978,'NCBI Gene PubMed Count',NULL,16088,NULL,NULL,NULL,20,NULL,NULL,NULL),(42979,'NCBI Gene Summary',NULL,16089,NULL,'Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(42980,'NCBI Gene PubMed Count',NULL,16089,NULL,NULL,NULL,9,NULL,NULL,NULL),(42981,'NCBI Gene Summary',NULL,16090,NULL,'The specific function of this gene has yet to be determined in humans; however,  in rodents, it is necessary for survival of the forebrain mesenchyme and may  also be involved in development of the cervix.  Mutations in the mouse gene lead  to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42982,'NCBI Gene PubMed Count',NULL,16090,NULL,NULL,NULL,22,NULL,NULL,NULL),(42983,'NCBI Gene Summary',NULL,16091,NULL,'This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(42984,'NCBI Gene PubMed Count',NULL,16091,NULL,NULL,NULL,34,NULL,NULL,NULL),(42985,'NCBI Gene PubMed Count',NULL,16092,NULL,NULL,NULL,13,NULL,NULL,NULL),(42986,'NCBI Gene Summary',NULL,16093,NULL,'Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(42987,'NCBI Gene PubMed Count',NULL,16093,NULL,NULL,NULL,83,NULL,NULL,NULL),(42988,'NCBI Gene PubMed Count',NULL,16094,NULL,NULL,NULL,5,NULL,NULL,NULL),(42989,'NCBI Gene Summary',NULL,16095,NULL,'The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42990,'NCBI Gene PubMed Count',NULL,16095,NULL,NULL,NULL,1022,NULL,NULL,NULL),(42991,'NCBI Gene Summary',NULL,16096,NULL,'The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(42992,'NCBI Gene PubMed Count',NULL,16096,NULL,NULL,NULL,18,NULL,NULL,NULL),(42993,'NCBI Gene Summary',NULL,16097,NULL,'The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(42994,'NCBI Gene PubMed Count',NULL,16097,NULL,NULL,NULL,66,NULL,NULL,NULL),(42995,'NCBI Gene PubMed Count',NULL,16098,NULL,NULL,NULL,15,NULL,NULL,NULL),(42996,'NCBI Gene Summary',NULL,16099,NULL,'The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(42997,'NCBI Gene PubMed Count',NULL,16099,NULL,NULL,NULL,60,NULL,NULL,NULL),(42998,'NCBI Gene Summary',NULL,16100,NULL,'This gene encodes a member of the adhesion family of G-protein coupled receptors. Members of this family are characterized by long N-termini and multiple functional domains. They may play a role in the immune system as well as in the central nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(42999,'NCBI Gene PubMed Count',NULL,16100,NULL,NULL,NULL,11,NULL,NULL,NULL),(43000,'NCBI Gene PubMed Count',NULL,16101,NULL,NULL,NULL,8,NULL,NULL,NULL),(43001,'NCBI Gene Summary',NULL,16102,NULL,'This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(43002,'NCBI Gene PubMed Count',NULL,16102,NULL,NULL,NULL,597,NULL,NULL,NULL),(43003,'NCBI Gene Summary',NULL,16103,NULL,'This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43004,'NCBI Gene PubMed Count',NULL,16103,NULL,NULL,NULL,21,NULL,NULL,NULL),(43005,'NCBI Gene PubMed Count',NULL,16104,NULL,NULL,NULL,6,NULL,NULL,NULL),(43006,'NCBI Gene PubMed Count',NULL,16105,NULL,NULL,NULL,92,NULL,NULL,NULL),(43007,'NCBI Gene PubMed Count',NULL,16106,NULL,NULL,NULL,6,NULL,NULL,NULL),(43008,'NCBI Gene Summary',NULL,16107,NULL,'This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43009,'NCBI Gene PubMed Count',NULL,16107,NULL,NULL,NULL,146,NULL,NULL,NULL),(43010,'NCBI Gene Summary',NULL,16108,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43011,'NCBI Gene PubMed Count',NULL,16108,NULL,NULL,NULL,2589,NULL,NULL,NULL),(43012,'NCBI Gene Summary',NULL,16109,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43013,'NCBI Gene PubMed Count',NULL,16109,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43014,'NCBI Gene Summary',NULL,16110,NULL,'This gene encodes a member of the EIF4EBP family, which consists of proteins that bind to eukaryotic translation initiation factor 4E and regulate its assembly into EIF4F, the multi-subunit translation initiation factor that recognizes the mRNA cap structure. Read-through transcription from the neighboring upstream gene (MASK or ANKHD1) generates a transcript (MASK-BP3) that encodes a protein comprised of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(43015,'NCBI Gene PubMed Count',NULL,16110,NULL,NULL,NULL,19,NULL,NULL,NULL),(43016,'NCBI Gene Summary',NULL,16111,NULL,'This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(43017,'NCBI Gene PubMed Count',NULL,16111,NULL,NULL,NULL,16,NULL,NULL,NULL),(43018,'NCBI Gene Summary',NULL,16112,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43019,'NCBI Gene PubMed Count',NULL,16112,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43020,'NCBI Gene Summary',NULL,16113,NULL,'Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(43021,'NCBI Gene PubMed Count',NULL,16113,NULL,NULL,NULL,29,NULL,NULL,NULL),(43022,'NCBI Gene Summary',NULL,16114,NULL,'The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(43023,'NCBI Gene PubMed Count',NULL,16114,NULL,NULL,NULL,74,NULL,NULL,NULL),(43024,'NCBI Gene PubMed Count',NULL,16115,NULL,NULL,NULL,50,NULL,NULL,NULL),(43025,'NCBI Gene Summary',NULL,16116,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43026,'NCBI Gene PubMed Count',NULL,16116,NULL,NULL,NULL,22,NULL,NULL,NULL),(43027,'NCBI Gene Summary',NULL,16117,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(43028,'NCBI Gene PubMed Count',NULL,16117,NULL,NULL,NULL,229,NULL,NULL,NULL),(43029,'NCBI Gene Summary',NULL,16118,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43030,'NCBI Gene PubMed Count',NULL,16118,NULL,NULL,NULL,52,NULL,NULL,NULL),(43031,'NCBI Gene Summary',NULL,16119,NULL,'Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(43032,'NCBI Gene PubMed Count',NULL,16119,NULL,NULL,NULL,45,NULL,NULL,NULL),(43033,'NCBI Gene Summary',NULL,16120,NULL,'The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5\'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43034,'NCBI Gene PubMed Count',NULL,16120,NULL,NULL,NULL,387,NULL,NULL,NULL),(43035,'NCBI Gene Summary',NULL,16121,NULL,'This gene encodes a cell cycle checkpoint protein. The encoded protein binds to translation and initiation factors and functions as a regulator of mitotic translation. In response to DNA damage this protein plays a role in preventing DNA errors during mitosis. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(43036,'NCBI Gene PubMed Count',NULL,16121,NULL,NULL,NULL,177,NULL,NULL,NULL),(43037,'NCBI Gene Summary',NULL,16122,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43038,'NCBI Gene PubMed Count',NULL,16122,NULL,NULL,NULL,1240,NULL,NULL,NULL),(43039,'NCBI Gene Summary',NULL,16123,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43040,'NCBI Gene PubMed Count',NULL,16123,NULL,NULL,NULL,2589,NULL,NULL,NULL),(43041,'NCBI Gene PubMed Count',NULL,16124,NULL,NULL,NULL,10,NULL,NULL,NULL),(43042,'NCBI Gene Summary',NULL,16125,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43043,'NCBI Gene PubMed Count',NULL,16125,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43044,'NCBI Gene Summary',NULL,16126,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43045,'NCBI Gene PubMed Count',NULL,16126,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43046,'NCBI Gene PubMed Count',NULL,16127,NULL,NULL,NULL,4,NULL,NULL,NULL),(43047,'NCBI Gene PubMed Count',NULL,16128,NULL,NULL,NULL,7,NULL,NULL,NULL),(43048,'NCBI Gene PubMed Count',NULL,16129,NULL,NULL,NULL,11,NULL,NULL,NULL),(43049,'NCBI Gene Summary',NULL,16130,NULL,'This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(43050,'NCBI Gene PubMed Count',NULL,16130,NULL,NULL,NULL,17,NULL,NULL,NULL),(43051,'NCBI Gene Summary',NULL,16131,NULL,'A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(43052,'NCBI Gene PubMed Count',NULL,16131,NULL,NULL,NULL,24,NULL,NULL,NULL),(43053,'NCBI Gene Summary',NULL,16132,NULL,'ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43054,'NCBI Gene PubMed Count',NULL,16132,NULL,NULL,NULL,52,NULL,NULL,NULL),(43055,'NCBI Gene Summary',NULL,16133,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43056,'NCBI Gene PubMed Count',NULL,16133,NULL,NULL,NULL,118,NULL,NULL,NULL),(43057,'NCBI Gene Summary',NULL,16134,NULL,'This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(43058,'NCBI Gene PubMed Count',NULL,16134,NULL,NULL,NULL,23,NULL,NULL,NULL),(43059,'NCBI Gene Summary',NULL,16135,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43060,'NCBI Gene PubMed Count',NULL,16135,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43061,'NCBI Gene Summary',NULL,16136,NULL,'The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43062,'NCBI Gene PubMed Count',NULL,16136,NULL,NULL,NULL,24,NULL,NULL,NULL),(43063,'NCBI Gene Summary',NULL,16137,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43064,'NCBI Gene PubMed Count',NULL,16137,NULL,NULL,NULL,1240,NULL,NULL,NULL),(43065,'NCBI Gene Summary',NULL,16138,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43066,'NCBI Gene PubMed Count',NULL,16138,NULL,NULL,NULL,1240,NULL,NULL,NULL),(43067,'NCBI Gene Summary',NULL,16139,NULL,'This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5\' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(43068,'NCBI Gene PubMed Count',NULL,16139,NULL,NULL,NULL,114,NULL,NULL,NULL),(43069,'NCBI Gene Summary',NULL,16140,NULL,'3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43070,'NCBI Gene PubMed Count',NULL,16140,NULL,NULL,NULL,22,NULL,NULL,NULL),(43071,'NCBI Gene PubMed Count',NULL,16141,NULL,NULL,NULL,22,NULL,NULL,NULL),(43072,'NCBI Gene Summary',NULL,16142,NULL,'This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(43073,'NCBI Gene PubMed Count',NULL,16142,NULL,NULL,NULL,2430,NULL,NULL,NULL),(43074,'NCBI Gene Summary',NULL,16143,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43075,'NCBI Gene PubMed Count',NULL,16143,NULL,NULL,NULL,17,NULL,NULL,NULL),(43076,'NCBI Gene Summary',NULL,16144,NULL,'The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(43077,'NCBI Gene PubMed Count',NULL,16144,NULL,NULL,NULL,18,NULL,NULL,NULL),(43078,'NCBI Gene Summary',NULL,16145,NULL,'This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(43079,'NCBI Gene PubMed Count',NULL,16145,NULL,NULL,NULL,10,NULL,NULL,NULL),(43080,'NCBI Gene Summary',NULL,16146,NULL,'AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(43081,'NCBI Gene PubMed Count',NULL,16146,NULL,NULL,NULL,99,NULL,NULL,NULL),(43082,'NCBI Gene Summary',NULL,16147,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43083,'NCBI Gene PubMed Count',NULL,16147,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43084,'NCBI Gene Summary',NULL,16148,NULL,'This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(43085,'NCBI Gene PubMed Count',NULL,16148,NULL,NULL,NULL,206,NULL,NULL,NULL),(43086,'NCBI Gene Summary',NULL,16149,NULL,'This gene encodes a member of the eukaryotic translation initiation factor 4E binding protein family. The gene products of this family bind eIF4E and inhibit translation initiation. However, insulin and other growth factors can release this inhibition via a phosphorylation-dependent disruption of their binding to eIF4E. Regulation of protein production through these gene products have been implicated in cell proliferation, cell differentiation and viral infection. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(43087,'NCBI Gene PubMed Count',NULL,16149,NULL,NULL,NULL,35,NULL,NULL,NULL),(43088,'NCBI Gene PubMed Count',NULL,16150,NULL,NULL,NULL,3,NULL,NULL,NULL),(43089,'NCBI Gene Summary',NULL,16151,NULL,'The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43090,'NCBI Gene PubMed Count',NULL,16151,NULL,NULL,NULL,138,NULL,NULL,NULL),(43091,'NCBI Gene Summary',NULL,16152,NULL,'The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43092,'NCBI Gene PubMed Count',NULL,16152,NULL,NULL,NULL,538,NULL,NULL,NULL),(43093,'NCBI Gene Summary',NULL,16153,NULL,'The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein\'s sequence have been implicated in Alzheimer\'s disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43094,'NCBI Gene PubMed Count',NULL,16153,NULL,NULL,NULL,177,NULL,NULL,NULL),(43095,'NCBI Gene PubMed Count',NULL,16154,NULL,NULL,NULL,1,NULL,NULL,NULL),(43096,'NCBI Gene PubMed Count',NULL,16155,NULL,NULL,NULL,8,NULL,NULL,NULL),(43097,'NCBI Gene Summary',NULL,16156,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(43098,'NCBI Gene PubMed Count',NULL,16156,NULL,NULL,NULL,22,NULL,NULL,NULL),(43099,'NCBI Gene Summary',NULL,16157,NULL,'This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. The protein encoded by this gene is the same as that encoded by APOBEC3A; however, this gene is a hybrid gene that results from the deletion of approximately 29.5 kb of sequence between the APOBEC3A gene and the adjacent gene APOBEC3B. The breakpoints of the deletion are within the two genes, so the deletion hybrid is predicted to have the promoter and coding region of APOBEC3A, but the 3\' UTR of APOBEC3B. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(43100,'NCBI Gene PubMed Count',NULL,16157,NULL,NULL,NULL,16,NULL,NULL,NULL),(43101,'NCBI Gene Summary',NULL,16158,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43102,'NCBI Gene PubMed Count',NULL,16158,NULL,NULL,NULL,805,NULL,NULL,NULL),(43103,'NCBI Gene PubMed Count',NULL,16159,NULL,NULL,NULL,8,NULL,NULL,NULL),(43104,'NCBI Gene Summary',NULL,16160,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43105,'NCBI Gene PubMed Count',NULL,16160,NULL,NULL,NULL,805,NULL,NULL,NULL),(43106,'NCBI Gene Summary',NULL,16161,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43107,'NCBI Gene PubMed Count',NULL,16161,NULL,NULL,NULL,1240,NULL,NULL,NULL),(43108,'NCBI Gene Summary',NULL,16162,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43109,'NCBI Gene PubMed Count',NULL,16162,NULL,NULL,NULL,1240,NULL,NULL,NULL),(43110,'NCBI Gene Summary',NULL,16163,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43111,'NCBI Gene PubMed Count',NULL,16163,NULL,NULL,NULL,2589,NULL,NULL,NULL),(43112,'NCBI Gene Summary',NULL,16164,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43113,'NCBI Gene PubMed Count',NULL,16164,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43114,'NCBI Gene Summary',NULL,16165,NULL,'This gene encodes a seven-transmembrane G-protein-coupled receptor. The encoded protein responds to signaling through the neurotransmitter serotonin. The mRNA of this gene is subject to multiple RNA editing events, where adenosine residues encoded by the genome are converted to inosines. RNA editing is predicted to alter the structure of the second intracellular loop, thereby generating alternate protein forms with decreased ability to interact with G proteins. Abnormalities in RNA editing of this gene have been detected in victims of suicide that suffer from depression. In addition, naturally-occuring variation in the promoter and 5\' non-coding and coding regions of this gene may show statistically-significant association with mental illness and behavioral disorders. Alternative splicing results in multiple different transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(43115,'NCBI Gene PubMed Count',NULL,16165,NULL,NULL,NULL,269,NULL,NULL,NULL),(43116,'NCBI Gene Summary',NULL,16166,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43117,'NCBI Gene PubMed Count',NULL,16166,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43118,'NCBI Gene Summary',NULL,16168,NULL,'The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(43119,'NCBI Gene PubMed Count',NULL,16168,NULL,NULL,NULL,150,NULL,NULL,NULL),(43120,'NCBI Gene Summary',NULL,16169,NULL,'6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(43121,'NCBI Gene PubMed Count',NULL,16169,NULL,NULL,NULL,28,NULL,NULL,NULL),(43122,'NCBI Gene Summary',NULL,16170,NULL,'The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5\' UTR have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43123,'NCBI Gene PubMed Count',NULL,16170,NULL,NULL,NULL,123,NULL,NULL,NULL),(43124,'NCBI Gene Summary',NULL,16171,NULL,'This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(43125,'NCBI Gene PubMed Count',NULL,16171,NULL,NULL,NULL,21,NULL,NULL,NULL),(43126,'NCBI Gene PubMed Count',NULL,16172,NULL,NULL,NULL,14,NULL,NULL,NULL),(43127,'NCBI Gene Summary',NULL,16173,NULL,'In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(43128,'NCBI Gene PubMed Count',NULL,16173,NULL,NULL,NULL,15,NULL,NULL,NULL),(43129,'NCBI Gene Summary',NULL,16174,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43130,'NCBI Gene PubMed Count',NULL,16174,NULL,NULL,NULL,2589,NULL,NULL,NULL),(43131,'NCBI Gene Summary',NULL,16175,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43132,'NCBI Gene PubMed Count',NULL,16175,NULL,NULL,NULL,805,NULL,NULL,NULL),(43133,'NCBI Gene Summary',NULL,16176,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43134,'NCBI Gene PubMed Count',NULL,16176,NULL,NULL,NULL,1240,NULL,NULL,NULL),(43135,'NCBI Gene PubMed Count',NULL,16177,NULL,NULL,NULL,2,NULL,NULL,NULL),(43136,'NCBI Gene PubMed Count',NULL,16178,NULL,NULL,NULL,2,NULL,NULL,NULL),(43137,'NCBI Gene Summary',NULL,16179,NULL,'The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O\'Donnell et al., 2002 [PubMed 12223515]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43138,'NCBI Gene PubMed Count',NULL,16179,NULL,NULL,NULL,56,NULL,NULL,NULL),(43139,'NCBI Gene Summary',NULL,16180,NULL,'This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43140,'NCBI Gene PubMed Count',NULL,16180,NULL,NULL,NULL,11,NULL,NULL,NULL),(43141,'NCBI Gene Summary',NULL,16181,NULL,'Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively.  GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43142,'NCBI Gene PubMed Count',NULL,16181,NULL,NULL,NULL,66,NULL,NULL,NULL),(43143,'NCBI Gene Summary',NULL,16182,NULL,'Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43144,'NCBI Gene PubMed Count',NULL,16182,NULL,NULL,NULL,15,NULL,NULL,NULL),(43145,'NCBI Gene Summary',NULL,16183,NULL,'This locus represents naturally occurring read-through transcription between the neighboring NT5C1B (5\'-nucleotidase, cytosolic IB) and RDH14 (retinol dehydrogenase 14) genes on chromosome 2. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(43146,'NCBI Gene PubMed Count',NULL,16183,NULL,NULL,NULL,2,NULL,NULL,NULL),(43147,'NCBI Gene Summary',NULL,16184,NULL,'This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(43148,'NCBI Gene PubMed Count',NULL,16184,NULL,NULL,NULL,49,NULL,NULL,NULL),(43149,'NCBI Gene Summary',NULL,16185,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43150,'NCBI Gene PubMed Count',NULL,16185,NULL,NULL,NULL,2589,NULL,NULL,NULL),(43151,'NCBI Gene Summary',NULL,16186,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43152,'NCBI Gene PubMed Count',NULL,16186,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43153,'NCBI Gene Summary',NULL,16187,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43154,'NCBI Gene PubMed Count',NULL,16187,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43155,'NCBI Gene Summary',NULL,16188,NULL,'This gene encodes a key acute phase plasma protein.  Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant.  The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43156,'NCBI Gene PubMed Count',NULL,16188,NULL,NULL,NULL,101,NULL,NULL,NULL),(43157,'NCBI Gene Summary',NULL,16189,NULL,'Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43158,'NCBI Gene PubMed Count',NULL,16189,NULL,NULL,NULL,25,NULL,NULL,NULL),(43159,'NCBI Gene Summary',NULL,16190,NULL,'The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43160,'NCBI Gene PubMed Count',NULL,16190,NULL,NULL,NULL,215,NULL,NULL,NULL),(43161,'NCBI Gene Summary',NULL,16191,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43162,'NCBI Gene PubMed Count',NULL,16191,NULL,NULL,NULL,1240,NULL,NULL,NULL),(43163,'NCBI Gene Summary',NULL,16192,NULL,'HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43164,'NCBI Gene PubMed Count',NULL,16192,NULL,NULL,NULL,805,NULL,NULL,NULL),(43165,'NCBI Gene Summary',NULL,16193,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43166,'NCBI Gene PubMed Count',NULL,16193,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43167,'NCBI Gene Summary',NULL,16194,NULL,'This gene encodes a G protein-coupled receptor for 5-hydroxytryptamine (serotonin), and belongs to the 5-hydroxytryptamine receptor subfamily. Serotonin has been implicated in a number of physiologic processes and pathologic conditions. Inactivation of this gene in mice results in behavior consistent with an increased anxiety and stress response. Mutation in the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(43168,'NCBI Gene PubMed Count',NULL,16194,NULL,NULL,NULL,347,NULL,NULL,NULL),(43169,'NCBI Gene Summary',NULL,16195,NULL,'This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing results in multiple transcript variants. This gene shares its 5\' terminal exon with some transcripts from overlapping GeneID:57413, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(43170,'NCBI Gene PubMed Count',NULL,16195,NULL,NULL,NULL,93,NULL,NULL,NULL),(43171,'NCBI Gene Summary',NULL,16196,NULL,'This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(43172,'NCBI Gene PubMed Count',NULL,16196,NULL,NULL,NULL,11,NULL,NULL,NULL),(43173,'NCBI Gene Summary',NULL,16197,NULL,'The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43174,'NCBI Gene PubMed Count',NULL,16197,NULL,NULL,NULL,137,NULL,NULL,NULL),(43175,'NCBI Gene Summary',NULL,16198,NULL,'The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43176,'NCBI Gene PubMed Count',NULL,16198,NULL,NULL,NULL,19,NULL,NULL,NULL),(43177,'NCBI Gene Summary',NULL,16199,NULL,'This gene encodes a protein that belongs to the seven-transmembrane G protein-coupled receptor family of proteins. The encoded protein couples with the Gs alpha subunit and stimulates adenylate cyclase to activate the cyclic AMP-dependent signaling pathway. This receptor is thought to regulate cholinergic neuronal transmission in the brain. Several antidepressants and antipsychotic drugs have a high affinity for this receptor. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(43178,'NCBI Gene PubMed Count',NULL,16199,NULL,NULL,NULL,73,NULL,NULL,NULL),(43179,'NCBI Gene PubMed Count',NULL,16200,NULL,NULL,NULL,10,NULL,NULL,NULL),(43180,'NCBI Gene PubMed Count',NULL,16201,NULL,NULL,NULL,3,NULL,NULL,NULL),(43181,'NCBI Gene Summary',NULL,16202,NULL,'The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(43182,'NCBI Gene PubMed Count',NULL,16202,NULL,NULL,NULL,28,NULL,NULL,NULL),(43183,'NCBI Gene Summary',NULL,16203,NULL,'This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein\'s association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motility. In a distinct complex, this protein has been shown to regulate epithelial junction formation and morphogenesis. By interacting with the Plexin-D1 cell surface receptor, this protein mediates changes in the cytoskeleton in response to semaphorin binding. This protein may promote metastasis in human liver cancer cells and tissues. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(43184,'NCBI Gene PubMed Count',NULL,16203,NULL,NULL,NULL,16,NULL,NULL,NULL),(43185,'NCBI Gene Summary',NULL,16204,NULL,'This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5\' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43186,'NCBI Gene PubMed Count',NULL,16204,NULL,NULL,NULL,197,NULL,NULL,NULL),(43187,'NCBI Gene Summary',NULL,16205,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43188,'NCBI Gene PubMed Count',NULL,16205,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43189,'NCBI Gene Summary',NULL,16206,NULL,'This gene encodes a member of the 5\'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5\'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5\' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5\' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(43190,'NCBI Gene PubMed Count',NULL,16206,NULL,NULL,NULL,34,NULL,NULL,NULL),(43191,'NCBI Gene Summary',NULL,16207,NULL,'The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(43192,'NCBI Gene PubMed Count',NULL,16207,NULL,NULL,NULL,110,NULL,NULL,NULL),(43193,'NCBI Gene Summary',NULL,16208,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43194,'NCBI Gene PubMed Count',NULL,16208,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43195,'NCBI Gene PubMed Count',NULL,16209,NULL,NULL,NULL,1,NULL,NULL,NULL),(43196,'NCBI Gene Summary',NULL,16211,NULL,'The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(43197,'NCBI Gene PubMed Count',NULL,16211,NULL,NULL,NULL,53,NULL,NULL,NULL),(43198,'NCBI Gene Summary',NULL,16212,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43199,'NCBI Gene PubMed Count',NULL,16212,NULL,NULL,NULL,2589,NULL,NULL,NULL),(43200,'NCBI Gene Summary',NULL,16213,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43201,'NCBI Gene PubMed Count',NULL,16213,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43202,'NCBI Gene Summary',NULL,16214,NULL,'HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43203,'NCBI Gene PubMed Count',NULL,16214,NULL,NULL,NULL,2589,NULL,NULL,NULL),(43204,'NCBI Gene Summary',NULL,16215,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43205,'NCBI Gene PubMed Count',NULL,16215,NULL,NULL,NULL,1240,NULL,NULL,NULL),(43206,'NCBI Gene Summary',NULL,16216,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43207,'NCBI Gene PubMed Count',NULL,16216,NULL,NULL,NULL,1240,NULL,NULL,NULL),(43208,'NCBI Gene Summary',NULL,16217,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43209,'NCBI Gene PubMed Count',NULL,16217,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43210,'NCBI Gene Summary',NULL,16218,NULL,'This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin receptors mediate many of the central and peripheral physiologic functions of serotonin, including regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a minor allele (glutamine-to-stop substitution, designated Q20*) which blocks expression of this protein, and knockout studies in mice, suggest a role for this gene in impulsivity. However, other factors, such as elevated testosterone levels, may also be involved. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(43211,'NCBI Gene PubMed Count',NULL,16218,NULL,NULL,NULL,74,NULL,NULL,NULL),(43212,'NCBI Gene Summary',NULL,16219,NULL,'HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43213,'NCBI Gene PubMed Count',NULL,16219,NULL,NULL,NULL,1815,NULL,NULL,NULL),(43214,'NCBI Gene Summary',NULL,16220,NULL,'This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(43215,'NCBI Gene PubMed Count',NULL,16220,NULL,NULL,NULL,95,NULL,NULL,NULL),(43216,'NCBI Gene Summary',NULL,16221,NULL,'The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(43217,'NCBI Gene PubMed Count',NULL,16221,NULL,NULL,NULL,168,NULL,NULL,NULL),(43218,'NCBI Gene Summary',NULL,16222,NULL,'This gene encodes a key acute phase plasma protein.  Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant.  The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43219,'NCBI Gene PubMed Count',NULL,16222,NULL,NULL,NULL,43,NULL,NULL,NULL),(43220,'NCBI Gene PubMed Count',NULL,16223,NULL,NULL,NULL,8,NULL,NULL,NULL),(43221,'NCBI Gene Summary',NULL,16224,NULL,'ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D.  The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43222,'NCBI Gene PubMed Count',NULL,16224,NULL,NULL,NULL,35,NULL,NULL,NULL),(43223,'NCBI Gene Summary',NULL,16225,NULL,'Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43224,'NCBI Gene PubMed Count',NULL,16225,NULL,NULL,NULL,53,NULL,NULL,NULL),(43225,'NCBI Gene PubMed Count',NULL,16226,NULL,NULL,NULL,17,NULL,NULL,NULL),(43226,'NCBI Gene Summary',NULL,16227,NULL,'This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(43227,'NCBI Gene PubMed Count',NULL,16227,NULL,NULL,NULL,71,NULL,NULL,NULL),(43228,'NCBI Gene Summary',NULL,16228,NULL,'This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43229,'NCBI Gene PubMed Count',NULL,16228,NULL,NULL,NULL,169,NULL,NULL,NULL),(43230,'NCBI Gene Summary',NULL,16229,NULL,'This gene encodes a cysteine-rich hydrophobic (CHIC) domain-containing protein, and is one of the few protein-coding genes found near the X-inactivation center. Studies in mouse indicate that the mouse ortholog of this gene is subject to X-inactivation in mouse. Experiments with other CHIC domain-containing family members show that the cysteine residues are palmitoylated post-translationally, resulting in membrane association. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(43231,'NCBI Gene PubMed Count',NULL,16229,NULL,NULL,NULL,5,NULL,NULL,NULL),(43232,'NCBI Gene PubMed Count',NULL,16230,NULL,NULL,NULL,7,NULL,NULL,NULL),(43233,'NCBI Gene PubMed Count',NULL,16231,NULL,NULL,NULL,19,NULL,NULL,NULL),(43234,'NCBI Gene Summary',NULL,16232,NULL,'ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43235,'NCBI Gene PubMed Count',NULL,16232,NULL,NULL,NULL,13,NULL,NULL,NULL),(43236,'NCBI Gene PubMed Count',NULL,16233,NULL,NULL,NULL,12,NULL,NULL,NULL),(43237,'NCBI Gene Summary',NULL,16234,NULL,'This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane\'s retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(43238,'NCBI Gene PubMed Count',NULL,16234,NULL,NULL,NULL,37,NULL,NULL,NULL),(43239,'NCBI Gene Summary',NULL,16235,NULL,'The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(43240,'NCBI Gene PubMed Count',NULL,16235,NULL,NULL,NULL,10,NULL,NULL,NULL),(43241,'NCBI Gene PubMed Count',NULL,16236,NULL,NULL,NULL,10,NULL,NULL,NULL),(43242,'NCBI Gene PubMed Count',NULL,16237,NULL,NULL,NULL,8,NULL,NULL,NULL),(43243,'NCBI Gene PubMed Count',NULL,16238,NULL,NULL,NULL,2,NULL,NULL,NULL),(43244,'NCBI Gene Summary',NULL,16239,NULL,'The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(43245,'NCBI Gene PubMed Count',NULL,16239,NULL,NULL,NULL,425,NULL,NULL,NULL),(43246,'NCBI Gene Summary',NULL,16240,NULL,'Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(43247,'NCBI Gene PubMed Count',NULL,16240,NULL,NULL,NULL,33,NULL,NULL,NULL),(43248,'NCBI Gene Summary',NULL,16241,NULL,'In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(43249,'NCBI Gene PubMed Count',NULL,16241,NULL,NULL,NULL,499,NULL,NULL,NULL),(43250,'NCBI Gene Summary',NULL,16242,NULL,'The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43251,'NCBI Gene PubMed Count',NULL,16242,NULL,NULL,NULL,56,NULL,NULL,NULL),(43252,'NCBI Gene Summary',NULL,16243,NULL,'This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(43253,'NCBI Gene PubMed Count',NULL,16243,NULL,NULL,NULL,35,NULL,NULL,NULL),(43254,'NCBI Gene Summary',NULL,16244,NULL,'CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43255,'NCBI Gene PubMed Count',NULL,16244,NULL,NULL,NULL,41,NULL,NULL,NULL),(43256,'NCBI Gene Summary',NULL,16245,NULL,'CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43257,'NCBI Gene PubMed Count',NULL,16245,NULL,NULL,NULL,41,NULL,NULL,NULL),(43258,'NCBI Gene Summary',NULL,16246,NULL,'This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43259,'NCBI Gene PubMed Count',NULL,16246,NULL,NULL,NULL,73,NULL,NULL,NULL),(43260,'NCBI Gene Summary',NULL,16247,NULL,'This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(43261,'NCBI Gene PubMed Count',NULL,16247,NULL,NULL,NULL,56,NULL,NULL,NULL),(43262,'NCBI Gene Summary',NULL,16248,NULL,'This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(43263,'NCBI Gene PubMed Count',NULL,16248,NULL,NULL,NULL,30,NULL,NULL,NULL),(43264,'NCBI Gene Summary',NULL,16249,NULL,'Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]',NULL,NULL,NULL,NULL,NULL),(43265,'NCBI Gene PubMed Count',NULL,16249,NULL,NULL,NULL,21,NULL,NULL,NULL),(43266,'NCBI Gene Summary',NULL,16250,NULL,'This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43267,'NCBI Gene PubMed Count',NULL,16250,NULL,NULL,NULL,38,NULL,NULL,NULL),(43268,'NCBI Gene PubMed Count',NULL,16251,NULL,NULL,NULL,7,NULL,NULL,NULL),(43269,'NCBI Gene Summary',NULL,16252,NULL,'This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(43270,'NCBI Gene PubMed Count',NULL,16252,NULL,NULL,NULL,17,NULL,NULL,NULL),(43271,'NCBI Gene PubMed Count',NULL,16253,NULL,NULL,NULL,23,NULL,NULL,NULL),(43272,'NCBI Gene Summary',NULL,16254,NULL,'Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(43273,'NCBI Gene PubMed Count',NULL,16254,NULL,NULL,NULL,122,NULL,NULL,NULL),(43274,'NCBI Gene PubMed Count',NULL,16255,NULL,NULL,NULL,22,NULL,NULL,NULL),(43275,'NCBI Gene Summary',NULL,16256,NULL,'This gene encodes a protein that may be involved in kinetochore-microtubule interaction and spindle checkpoint activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43276,'NCBI Gene PubMed Count',NULL,16256,NULL,NULL,NULL,15,NULL,NULL,NULL),(43277,'NCBI Gene PubMed Count',NULL,16257,NULL,NULL,NULL,3,NULL,NULL,NULL),(43278,'NCBI Gene PubMed Count',NULL,16258,NULL,NULL,NULL,11,NULL,NULL,NULL),(43279,'NCBI Gene PubMed Count',NULL,16260,NULL,NULL,NULL,5,NULL,NULL,NULL),(43280,'NCBI Gene PubMed Count',NULL,16261,NULL,NULL,NULL,28,NULL,NULL,NULL),(43281,'NCBI Gene PubMed Count',NULL,16262,NULL,NULL,NULL,12,NULL,NULL,NULL),(43282,'NCBI Gene Summary',NULL,16263,NULL,'This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43283,'NCBI Gene PubMed Count',NULL,16263,NULL,NULL,NULL,21,NULL,NULL,NULL),(43284,'NCBI Gene PubMed Count',NULL,16264,NULL,NULL,NULL,7,NULL,NULL,NULL),(43285,'NCBI Gene Summary',NULL,16265,NULL,'This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43286,'NCBI Gene PubMed Count',NULL,16265,NULL,NULL,NULL,78,NULL,NULL,NULL),(43287,'NCBI Gene PubMed Count',NULL,16266,NULL,NULL,NULL,9,NULL,NULL,NULL),(43288,'NCBI Gene PubMed Count',NULL,16267,NULL,NULL,NULL,8,NULL,NULL,NULL),(43289,'NCBI Gene Summary',NULL,16268,NULL,'Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5\' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43290,'NCBI Gene PubMed Count',NULL,16268,NULL,NULL,NULL,17,NULL,NULL,NULL),(43291,'NCBI Gene PubMed Count',NULL,16269,NULL,NULL,NULL,13,NULL,NULL,NULL),(43292,'NCBI Gene Summary',NULL,16270,NULL,'This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(43293,'NCBI Gene PubMed Count',NULL,16270,NULL,NULL,NULL,45,NULL,NULL,NULL),(43294,'NCBI Gene Summary',NULL,16271,NULL,'The protein encoded by this gene is a hormone involved in modulation of cardiovascular and renal function. It has also been shown in rats to cause weight loss. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(43295,'NCBI Gene PubMed Count',NULL,16271,NULL,NULL,NULL,19,NULL,NULL,NULL),(43296,'NCBI Gene PubMed Count',NULL,16272,NULL,NULL,NULL,9,NULL,NULL,NULL),(43297,'NCBI Gene PubMed Count',NULL,16273,NULL,NULL,NULL,7,NULL,NULL,NULL),(43298,'NCBI Gene PubMed Count',NULL,16274,NULL,NULL,NULL,7,NULL,NULL,NULL),(43299,'NCBI Gene Summary',NULL,16275,NULL,'This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5\' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43300,'NCBI Gene PubMed Count',NULL,16275,NULL,NULL,NULL,61,NULL,NULL,NULL),(43301,'NCBI Gene PubMed Count',NULL,16276,NULL,NULL,NULL,41,NULL,NULL,NULL),(43302,'NCBI Gene Summary',NULL,16277,NULL,'This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43303,'NCBI Gene PubMed Count',NULL,16277,NULL,NULL,NULL,16,NULL,NULL,NULL),(43304,'NCBI Gene Summary',NULL,16278,NULL,'This gene was identified by its similarity to the ST7 tumor suppressor gene found in the chromosome 7q31 region. This gene is clustered in a tail-to-tail manner with the WNT2B gene in a chromosomal region known to be deleted and rearranged in a variety of cancers. Several transcript variants encoding many different isoforms have been described, but some have not been fully characterized. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(43305,'NCBI Gene PubMed Count',NULL,16278,NULL,NULL,NULL,12,NULL,NULL,NULL),(43306,'NCBI Gene PubMed Count',NULL,16279,NULL,NULL,NULL,10,NULL,NULL,NULL),(43307,'NCBI Gene Summary',NULL,16280,NULL,'The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(43308,'NCBI Gene PubMed Count',NULL,16280,NULL,NULL,NULL,320,NULL,NULL,NULL),(43309,'NCBI Gene PubMed Count',NULL,16281,NULL,NULL,NULL,6,NULL,NULL,NULL),(43310,'NCBI Gene PubMed Count',NULL,16282,NULL,NULL,NULL,18,NULL,NULL,NULL),(43311,'NCBI Gene Summary',NULL,16283,NULL,'This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43312,'NCBI Gene PubMed Count',NULL,16283,NULL,NULL,NULL,38,NULL,NULL,NULL),(43313,'NCBI Gene PubMed Count',NULL,16284,NULL,NULL,NULL,2,NULL,NULL,NULL),(43314,'NCBI Gene Summary',NULL,16285,NULL,'The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43315,'NCBI Gene PubMed Count',NULL,16285,NULL,NULL,NULL,49,NULL,NULL,NULL),(43316,'NCBI Gene Summary',NULL,16286,NULL,'The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(43317,'NCBI Gene PubMed Count',NULL,16286,NULL,NULL,NULL,11,NULL,NULL,NULL),(43318,'NCBI Gene Summary',NULL,16287,NULL,'Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(43319,'NCBI Gene PubMed Count',NULL,16287,NULL,NULL,NULL,18,NULL,NULL,NULL),(43320,'NCBI Gene Summary',NULL,16288,NULL,'This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43321,'NCBI Gene PubMed Count',NULL,16288,NULL,NULL,NULL,59,NULL,NULL,NULL),(43322,'NCBI Gene Summary',NULL,16289,NULL,'This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43323,'NCBI Gene PubMed Count',NULL,16289,NULL,NULL,NULL,14,NULL,NULL,NULL),(43324,'NCBI Gene Summary',NULL,16290,NULL,'This gene encodes a multipass membrane protein that functions as an iron transporter. The encoded protein can reduce both iron (Fe3+) and copper (Cu2+) cations. This protein may mediate downstream responses to p53, including promoting apoptosis. Deficiency in this gene can cause anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(43325,'NCBI Gene PubMed Count',NULL,16290,NULL,NULL,NULL,35,NULL,NULL,NULL),(43326,'NCBI Gene Summary',NULL,16291,NULL,'Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. Five transcript variants resulting from alternative splicing of STAU gene and encoding three isoforms have been described. Three of these variants encode the same isoform, however, differ in their 5\'UTR. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43327,'NCBI Gene PubMed Count',NULL,16291,NULL,NULL,NULL,70,NULL,NULL,NULL),(43328,'NCBI Gene Summary',NULL,16292,NULL,'This gene encodes a nuclear protein with 3\' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(43329,'NCBI Gene PubMed Count',NULL,16292,NULL,NULL,NULL,97,NULL,NULL,NULL),(43330,'NCBI Gene Summary',NULL,16293,NULL,'This gene encodes a nuclear protein with 3\' to 5\' exonuclease activity. The encoded protein participates in double-stranded DNA break repair, and may interact with DNA polymerase delta. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(43331,'NCBI Gene PubMed Count',NULL,16293,NULL,NULL,NULL,30,NULL,NULL,NULL),(43332,'NCBI Gene Summary',NULL,16294,NULL,'The protein encoded by this gene belongs to the STEAP (six transmembrane epithelial antigen of prostate) family, and resides in the golgi apparatus. It functions as a metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+), using NAD(+) as acceptor. Studies in mice and human suggest that this gene maybe involved in adipocyte development and metabolism, and may contribute to the normal biology of the prostate cell, as well as prostate cancer progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(43333,'NCBI Gene PubMed Count',NULL,16294,NULL,NULL,NULL,37,NULL,NULL,NULL),(43334,'NCBI Gene Summary',NULL,16295,NULL,'STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity of HSP70 and inhibits the ATPase activity of HSP90, suggesting that it regulates both the conformations and ATPase cycles of these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(43335,'NCBI Gene PubMed Count',NULL,16295,NULL,NULL,NULL,75,NULL,NULL,NULL),(43336,'NCBI Gene Summary',NULL,16296,NULL,'This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Antimicrobial, antiviral, antifungal and antiparasitic activity has been found for this protein and its peptides. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(43337,'NCBI Gene PubMed Count',NULL,16296,NULL,NULL,NULL,285,NULL,NULL,NULL),(43338,'NCBI Gene PubMed Count',NULL,16297,NULL,NULL,NULL,6,NULL,NULL,NULL),(43339,'NCBI Gene Summary',NULL,16298,NULL,'OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(43340,'NCBI Gene PubMed Count',NULL,16298,NULL,NULL,NULL,40,NULL,NULL,NULL),(43341,'NCBI Gene Summary',NULL,16299,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43342,'NCBI Gene PubMed Count',NULL,16299,NULL,NULL,NULL,20,NULL,NULL,NULL),(43343,'NCBI Gene Summary',NULL,16300,NULL,'The protein encoded by this gene is a tripartite motif (TRIM) family member that contains two B box domains and a coiled-coiled region that are characteristic of the B box zinc finger protein family. While it lacks a RING domain found in other TRIM proteins, the encoded protein can homodimerize or heterodimerize with other TRIM proteins and has E3 ubiquitin ligase activity. This gene is also a tumor suppressor and is involved in secretory autophagy. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(43344,'NCBI Gene PubMed Count',NULL,16300,NULL,NULL,NULL,31,NULL,NULL,NULL),(43345,'NCBI Gene Summary',NULL,16301,NULL,'This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(43346,'NCBI Gene PubMed Count',NULL,16301,NULL,NULL,NULL,95,NULL,NULL,NULL),(43347,'NCBI Gene Summary',NULL,16302,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein is expressed almost exclusively in the testis, but its function is unknown. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43348,'NCBI Gene PubMed Count',NULL,16302,NULL,NULL,NULL,17,NULL,NULL,NULL),(43349,'NCBI Gene PubMed Count',NULL,16303,NULL,NULL,NULL,29,NULL,NULL,NULL),(43350,'NCBI Gene Summary',NULL,16304,NULL,'This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(43351,'NCBI Gene PubMed Count',NULL,16304,NULL,NULL,NULL,37,NULL,NULL,NULL),(43352,'NCBI Gene PubMed Count',NULL,16305,NULL,NULL,NULL,25,NULL,NULL,NULL),(43353,'NCBI Gene Summary',NULL,16306,NULL,'This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(43354,'NCBI Gene PubMed Count',NULL,16306,NULL,NULL,NULL,18,NULL,NULL,NULL),(43355,'NCBI Gene PubMed Count',NULL,16307,NULL,NULL,NULL,8,NULL,NULL,NULL),(43356,'NCBI Gene Summary',NULL,16308,NULL,'This gene belongs to the syntaxin family and encodes a soluble N-ethylmaleimide sensitive factor attachment protein receptor (SNARE). The encoded protein is involved in docking and fusion events at the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(43357,'NCBI Gene PubMed Count',NULL,16308,NULL,NULL,NULL,10,NULL,NULL,NULL),(43358,'NCBI Gene Summary',NULL,16309,NULL,'This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43359,'NCBI Gene PubMed Count',NULL,16309,NULL,NULL,NULL,36,NULL,NULL,NULL),(43360,'NCBI Gene Summary',NULL,16310,NULL,'This gene encodes a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for v-SNAREs (vesicle-SNAP receptors), permitting specific synaptic vesicle docking and fusion. The encoded protein regulates endoplasmic reticulum to Golgi transport and plays a critical role in autophagy. Autoantibodies targeting the encoded protein may be a diagnostic marker for endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(43361,'NCBI Gene PubMed Count',NULL,16310,NULL,NULL,NULL,34,NULL,NULL,NULL),(43362,'NCBI Gene Summary',NULL,16311,NULL,'The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson\'s disease has also been suggested. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(43363,'NCBI Gene PubMed Count',NULL,16311,NULL,NULL,NULL,16,NULL,NULL,NULL),(43364,'NCBI Gene Summary',NULL,16312,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43365,'NCBI Gene PubMed Count',NULL,16312,NULL,NULL,NULL,65,NULL,NULL,NULL),(43366,'NCBI Gene Summary',NULL,16313,NULL,'The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43367,'NCBI Gene PubMed Count',NULL,16313,NULL,NULL,NULL,47,NULL,NULL,NULL),(43368,'NCBI Gene Summary',NULL,16314,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. Expression of this gene is up-regulated by interferon. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from the upstream TRIM6 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(43369,'NCBI Gene PubMed Count',NULL,16314,NULL,NULL,NULL,11,NULL,NULL,NULL),(43370,'NCBI Gene Summary',NULL,16315,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43371,'NCBI Gene PubMed Count',NULL,16315,NULL,NULL,NULL,12,NULL,NULL,NULL),(43372,'NCBI Gene PubMed Count',NULL,16316,NULL,NULL,NULL,73,NULL,NULL,NULL),(43373,'NCBI Gene Summary',NULL,16317,NULL,'This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(43374,'NCBI Gene PubMed Count',NULL,16317,NULL,NULL,NULL,52,NULL,NULL,NULL),(43375,'NCBI Gene PubMed Count',NULL,16318,NULL,NULL,NULL,24,NULL,NULL,NULL),(43376,'NCBI Gene Summary',NULL,16319,NULL,'This gene encodes a member of the tripartite motif (TRIM) family. The TRIM family is characterized by a signature motif composed of a RING finger, one or more B-box domains, and a coiled-coil region. This encoded protein may play a role in protein kinase C signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(43377,'NCBI Gene PubMed Count',NULL,16319,NULL,NULL,NULL,19,NULL,NULL,NULL),(43378,'NCBI Gene Summary',NULL,16320,NULL,'Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43379,'NCBI Gene PubMed Count',NULL,16320,NULL,NULL,NULL,29,NULL,NULL,NULL),(43380,'NCBI Gene Summary',NULL,16321,NULL,'This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43381,'NCBI Gene PubMed Count',NULL,16321,NULL,NULL,NULL,28,NULL,NULL,NULL),(43382,'NCBI Gene Summary',NULL,16322,NULL,'This gene encodes a member of the tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(43383,'NCBI Gene PubMed Count',NULL,16322,NULL,NULL,NULL,11,NULL,NULL,NULL),(43384,'NCBI Gene Summary',NULL,16323,NULL,'Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43385,'NCBI Gene PubMed Count',NULL,16323,NULL,NULL,NULL,32,NULL,NULL,NULL),(43386,'NCBI Gene Summary',NULL,16324,NULL,'The protein encoded by this gene is a pseudophosphatase, able to bind potential substrates but lacking an active catalytic loop. The encoded protein may be involved in spermiogenesis. Two transcript variants encoding the same protein have been found for these genes. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(43387,'NCBI Gene PubMed Count',NULL,16324,NULL,NULL,NULL,13,NULL,NULL,NULL),(43388,'NCBI Gene PubMed Count',NULL,16325,NULL,NULL,NULL,18,NULL,NULL,NULL),(43389,'NCBI Gene Summary',NULL,16326,NULL,'This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the degradation of myosin heavy chain proteins, myosin light chain, myosin binding protein, and for muscle-type creatine kinase. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(43390,'NCBI Gene PubMed Count',NULL,16326,NULL,NULL,NULL,53,NULL,NULL,NULL),(43391,'NCBI Gene PubMed Count',NULL,16327,NULL,NULL,NULL,2,NULL,NULL,NULL),(43392,'NCBI Gene Summary',NULL,16328,NULL,'This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43393,'NCBI Gene PubMed Count',NULL,16328,NULL,NULL,NULL,14,NULL,NULL,NULL),(43394,'NCBI Gene PubMed Count',NULL,16329,NULL,NULL,NULL,19,NULL,NULL,NULL),(43395,'NCBI Gene PubMed Count',NULL,16330,NULL,NULL,NULL,6,NULL,NULL,NULL),(43396,'NCBI Gene PubMed Count',NULL,16331,NULL,NULL,NULL,5,NULL,NULL,NULL),(43397,'NCBI Gene PubMed Count',NULL,16332,NULL,NULL,NULL,1,NULL,NULL,NULL),(43398,'NCBI Gene PubMed Count',NULL,16333,NULL,NULL,NULL,2,NULL,NULL,NULL),(43399,'NCBI Gene PubMed Count',NULL,16334,NULL,NULL,NULL,87,NULL,NULL,NULL),(43400,'NCBI Gene Summary',NULL,16335,NULL,'Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43401,'NCBI Gene PubMed Count',NULL,16335,NULL,NULL,NULL,33,NULL,NULL,NULL),(43402,'NCBI Gene Summary',NULL,16336,NULL,'TRIL is a component of the TLR4 (MIM 603030) complex and is induced in a number of cell types by lipopolysaccharide (LPS) (Carpenter et al., 2009 [PubMed 19710467]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(43403,'NCBI Gene PubMed Count',NULL,16336,NULL,NULL,NULL,8,NULL,NULL,NULL),(43404,'NCBI Gene Summary',NULL,16337,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(43405,'NCBI Gene PubMed Count',NULL,16337,NULL,NULL,NULL,32,NULL,NULL,NULL),(43406,'NCBI Gene Summary',NULL,16338,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(43407,'NCBI Gene PubMed Count',NULL,16338,NULL,NULL,NULL,15,NULL,NULL,NULL),(43408,'NCBI Gene Summary',NULL,16339,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(43409,'NCBI Gene PubMed Count',NULL,16339,NULL,NULL,NULL,12,NULL,NULL,NULL),(43410,'NCBI Gene Summary',NULL,16340,NULL,'This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(43411,'NCBI Gene PubMed Count',NULL,16340,NULL,NULL,NULL,27,NULL,NULL,NULL),(43412,'NCBI Gene Summary',NULL,16341,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43413,'NCBI Gene PubMed Count',NULL,16341,NULL,NULL,NULL,19,NULL,NULL,NULL),(43414,'NCBI Gene Summary',NULL,16342,NULL,'This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(43415,'NCBI Gene PubMed Count',NULL,16342,NULL,NULL,NULL,8,NULL,NULL,NULL),(43416,'NCBI Gene Summary',NULL,16343,NULL,'This gene encodes a homolog of the TRM2 gene in S. cerevisiae. The yeast gene encodes a tRNA methyltransferase that plays a role in tRNA maturation. The yeast protein also has endo-exonuclease activity and may be involved in DNA double strand break repair. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(43417,'NCBI Gene PubMed Count',NULL,16343,NULL,NULL,NULL,4,NULL,NULL,NULL),(43418,'NCBI Gene Summary',NULL,16344,NULL,'This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(43419,'NCBI Gene PubMed Count',NULL,16344,NULL,NULL,NULL,19,NULL,NULL,NULL),(43420,'NCBI Gene PubMed Count',NULL,16345,NULL,NULL,NULL,7,NULL,NULL,NULL),(43421,'NCBI Gene Summary',NULL,16346,NULL,'This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(43422,'NCBI Gene PubMed Count',NULL,16346,NULL,NULL,NULL,35,NULL,NULL,NULL),(43423,'NCBI Gene Summary',NULL,16347,NULL,'This gene encodes a member of the small ubiquitin-related modifier (SUMO) family of eukaryotic proteins. The encoded protein is covalently conjugated to other proteins via a post-translation modification known as sumoylation. Sumoylation may play a role in a wide variety of cellular processes, including nuclear transport, DNA replication and repair, mitosis, transcriptional regulation, and signal transduction. Alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(43424,'NCBI Gene PubMed Count',NULL,16347,NULL,NULL,NULL,83,NULL,NULL,NULL),(43425,'NCBI Gene Summary',NULL,16348,NULL,'The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43426,'NCBI Gene PubMed Count',NULL,16348,NULL,NULL,NULL,21,NULL,NULL,NULL),(43427,'NCBI Gene PubMed Count',NULL,16349,NULL,NULL,NULL,5,NULL,NULL,NULL),(43428,'NCBI Gene Summary',NULL,16350,NULL,'Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43429,'NCBI Gene PubMed Count',NULL,16350,NULL,NULL,NULL,68,NULL,NULL,NULL),(43430,'NCBI Gene PubMed Count',NULL,16351,NULL,NULL,NULL,18,NULL,NULL,NULL),(43431,'NCBI Gene Summary',NULL,16352,NULL,'The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(43432,'NCBI Gene PubMed Count',NULL,16352,NULL,NULL,NULL,6,NULL,NULL,NULL),(43433,'NCBI Gene PubMed Count',NULL,16353,NULL,NULL,NULL,2,NULL,NULL,NULL),(43434,'NCBI Gene Summary',NULL,16354,NULL,'This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]',NULL,NULL,NULL,NULL,NULL),(43435,'NCBI Gene PubMed Count',NULL,16354,NULL,NULL,NULL,320,NULL,NULL,NULL),(43436,'NCBI Gene PubMed Count',NULL,16355,NULL,NULL,NULL,13,NULL,NULL,NULL),(43437,'NCBI Gene PubMed Count',NULL,16356,NULL,NULL,NULL,49,NULL,NULL,NULL),(43438,'NCBI Gene PubMed Count',NULL,16357,NULL,NULL,NULL,15,NULL,NULL,NULL),(43439,'NCBI Gene PubMed Count',NULL,16358,NULL,NULL,NULL,9,NULL,NULL,NULL),(43440,'NCBI Gene Summary',NULL,16359,NULL,'This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43441,'NCBI Gene PubMed Count',NULL,16359,NULL,NULL,NULL,378,NULL,NULL,NULL),(43442,'NCBI Gene Summary',NULL,16360,NULL,'Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene\'s protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(43443,'NCBI Gene PubMed Count',NULL,16360,NULL,NULL,NULL,84,NULL,NULL,NULL),(43444,'NCBI Gene PubMed Count',NULL,16361,NULL,NULL,NULL,5,NULL,NULL,NULL),(43445,'NCBI Gene Summary',NULL,16362,NULL,'This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(43446,'NCBI Gene PubMed Count',NULL,16362,NULL,NULL,NULL,32,NULL,NULL,NULL),(43447,'NCBI Gene PubMed Count',NULL,16363,NULL,NULL,NULL,16,NULL,NULL,NULL),(43448,'NCBI Gene PubMed Count',NULL,16364,NULL,NULL,NULL,8,NULL,NULL,NULL),(43449,'NCBI Gene Summary',NULL,16365,NULL,'Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43450,'NCBI Gene PubMed Count',NULL,16365,NULL,NULL,NULL,15,NULL,NULL,NULL),(43451,'NCBI Gene PubMed Count',NULL,16366,NULL,NULL,NULL,4,NULL,NULL,NULL),(43452,'NCBI Gene PubMed Count',NULL,16367,NULL,NULL,NULL,15,NULL,NULL,NULL),(43453,'NCBI Gene PubMed Count',NULL,16368,NULL,NULL,NULL,6,NULL,NULL,NULL),(43454,'NCBI Gene Summary',NULL,16369,NULL,'The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(43455,'NCBI Gene PubMed Count',NULL,16369,NULL,NULL,NULL,26,NULL,NULL,NULL),(43456,'NCBI Gene Summary',NULL,16370,NULL,'The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(43457,'NCBI Gene PubMed Count',NULL,16370,NULL,NULL,NULL,7,NULL,NULL,NULL),(43458,'NCBI Gene Summary',NULL,16371,NULL,'Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(43459,'NCBI Gene PubMed Count',NULL,16371,NULL,NULL,NULL,18,NULL,NULL,NULL),(43460,'NCBI Gene PubMed Count',NULL,16372,NULL,NULL,NULL,18,NULL,NULL,NULL),(43461,'NCBI Gene Summary',NULL,16373,NULL,'This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43462,'NCBI Gene PubMed Count',NULL,16373,NULL,NULL,NULL,23,NULL,NULL,NULL),(43463,'NCBI Gene PubMed Count',NULL,16374,NULL,NULL,NULL,14,NULL,NULL,NULL),(43464,'NCBI Gene Summary',NULL,16375,NULL,'The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(43465,'NCBI Gene PubMed Count',NULL,16375,NULL,NULL,NULL,47,NULL,NULL,NULL),(43466,'NCBI Gene PubMed Count',NULL,16376,NULL,NULL,NULL,9,NULL,NULL,NULL),(43467,'NCBI Gene Summary',NULL,16377,NULL,'This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer\'s and Parkinson\'s disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43468,'NCBI Gene PubMed Count',NULL,16377,NULL,NULL,NULL,89,NULL,NULL,NULL),(43469,'NCBI Gene Summary',NULL,16378,NULL,'The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(43470,'NCBI Gene PubMed Count',NULL,16378,NULL,NULL,NULL,42,NULL,NULL,NULL),(43471,'NCBI Gene Summary',NULL,16379,NULL,'UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(43472,'NCBI Gene PubMed Count',NULL,16379,NULL,NULL,NULL,26,NULL,NULL,NULL),(43473,'NCBI Gene Summary',NULL,16380,NULL,'The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43474,'NCBI Gene PubMed Count',NULL,16380,NULL,NULL,NULL,26,NULL,NULL,NULL),(43475,'NCBI Gene Summary',NULL,16381,NULL,'Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43476,'NCBI Gene PubMed Count',NULL,16381,NULL,NULL,NULL,56,NULL,NULL,NULL),(43477,'NCBI Gene Summary',NULL,16382,NULL,'Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43478,'NCBI Gene PubMed Count',NULL,16382,NULL,NULL,NULL,19,NULL,NULL,NULL),(43479,'NCBI Gene Summary',NULL,16383,NULL,'The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer\'s disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43480,'NCBI Gene PubMed Count',NULL,16383,NULL,NULL,NULL,28,NULL,NULL,NULL),(43481,'NCBI Gene Summary',NULL,16384,NULL,'The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(43482,'NCBI Gene PubMed Count',NULL,16384,NULL,NULL,NULL,16,NULL,NULL,NULL),(43483,'NCBI Gene PubMed Count',NULL,16385,NULL,NULL,NULL,7,NULL,NULL,NULL),(43484,'NCBI Gene PubMed Count',NULL,16386,NULL,NULL,NULL,7,NULL,NULL,NULL),(43485,'NCBI Gene PubMed Count',NULL,16387,NULL,NULL,NULL,15,NULL,NULL,NULL),(43486,'NCBI Gene PubMed Count',NULL,16388,NULL,NULL,NULL,7,NULL,NULL,NULL),(43487,'NCBI Gene PubMed Count',NULL,16389,NULL,NULL,NULL,7,NULL,NULL,NULL),(43488,'NCBI Gene PubMed Count',NULL,16390,NULL,NULL,NULL,8,NULL,NULL,NULL),(43489,'NCBI Gene PubMed Count',NULL,16391,NULL,NULL,NULL,2,NULL,NULL,NULL),(43490,'NCBI Gene PubMed Count',NULL,16392,NULL,NULL,NULL,15,NULL,NULL,NULL),(43491,'NCBI Gene PubMed Count',NULL,16393,NULL,NULL,NULL,6,NULL,NULL,NULL),(43492,'NCBI Gene PubMed Count',NULL,16394,NULL,NULL,NULL,6,NULL,NULL,NULL),(43493,'NCBI Gene PubMed Count',NULL,16395,NULL,NULL,NULL,3,NULL,NULL,NULL),(43494,'NCBI Gene PubMed Count',NULL,16396,NULL,NULL,NULL,9,NULL,NULL,NULL),(43495,'NCBI Gene Summary',NULL,16397,NULL,'This locus was thought to represent a pseudogene of chromosome 1 open reading frame 37 because it is intronless and retains a polyA tail at the 3\' end. It does however contain a complete open reading frame that subsequent research has demonstrated to be transcribed in a limited number of human tissues. The encoded protein may represent a transmembrane protein associated with cell membranes and be involved in cell-cell or cell-environment interactions. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(43496,'NCBI Gene PubMed Count',NULL,16397,NULL,NULL,NULL,1,NULL,NULL,NULL),(43497,'NCBI Gene PubMed Count',NULL,16398,NULL,NULL,NULL,8,NULL,NULL,NULL),(43498,'NCBI Gene Summary',NULL,16399,NULL,'The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5\' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(43499,'NCBI Gene PubMed Count',NULL,16399,NULL,NULL,NULL,16,NULL,NULL,NULL),(43500,'NCBI Gene PubMed Count',NULL,16400,NULL,NULL,NULL,5,NULL,NULL,NULL),(43501,'NCBI Gene PubMed Count',NULL,16401,NULL,NULL,NULL,4,NULL,NULL,NULL),(43502,'NCBI Gene PubMed Count',NULL,16402,NULL,NULL,NULL,2,NULL,NULL,NULL),(43503,'NCBI Gene PubMed Count',NULL,16403,NULL,NULL,NULL,2,NULL,NULL,NULL),(43504,'NCBI Gene Summary',NULL,16404,NULL,'The protein encoded by this gene is one of several related ligands of the KLRK1/NKG2D receptor, which is found in primary NK cells. Binding of these ligands to the receptor activates several signal transduction pathways, including the JAK2, STAT5, and ERK pathways. The encoded protein is expressed solubly and on the surface of many tumor cells, making it potentially an important target for therapeutics. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(43505,'NCBI Gene PubMed Count',NULL,16404,NULL,NULL,NULL,27,NULL,NULL,NULL),(43506,'NCBI Gene Summary',NULL,16405,NULL,'RAET1L belongs to the RAET1 family of major histocompatibility complex (MHC) class I-related genes, which are located within a 180-kb cluster on chromosome 6q24.2-q25.3. The REAT1 genes encode glycoproteins that contain extracellular alpha-1 and alpha-2 domains, but they lack the membrane proximal Ig-like alpha-3 domain. Most RAET1 glycoproteins are anchored to the membrane via glycosylphosphatidylinositol (GPI) linkage (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43507,'NCBI Gene PubMed Count',NULL,16405,NULL,NULL,NULL,11,NULL,NULL,NULL),(43508,'NCBI Gene PubMed Count',NULL,16406,NULL,NULL,NULL,5,NULL,NULL,NULL),(43509,'NCBI Gene PubMed Count',NULL,16407,NULL,NULL,NULL,2,NULL,NULL,NULL),(43510,'NCBI Gene PubMed Count',NULL,16408,NULL,NULL,NULL,2,NULL,NULL,NULL),(43511,'NCBI Gene Summary',NULL,16409,NULL,'This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(43512,'NCBI Gene PubMed Count',NULL,16409,NULL,NULL,NULL,34,NULL,NULL,NULL),(43513,'NCBI Gene PubMed Count',NULL,16410,NULL,NULL,NULL,12,NULL,NULL,NULL),(43514,'NCBI Gene Summary',NULL,16411,NULL,'This gene encodes a uridine 5\'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5\'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5\'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(43515,'NCBI Gene PubMed Count',NULL,16411,NULL,NULL,NULL,48,NULL,NULL,NULL),(43516,'NCBI Gene Summary',NULL,16412,NULL,'This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43517,'NCBI Gene PubMed Count',NULL,16412,NULL,NULL,NULL,28,NULL,NULL,NULL),(43518,'NCBI Gene PubMed Count',NULL,16413,NULL,NULL,NULL,11,NULL,NULL,NULL),(43519,'NCBI Gene Summary',NULL,16414,NULL,'This gene encodes a regulatory component of the progesterone receptor/heat shock protein 90 chaperoning complex, which functions in the assembly and folding of the progesterone receptor. The encoded protein is thought to be essential for normal cell proliferation, and for the accumulation of myosin during development of muscle cells. [provided by RefSeq, Sep 2018]',NULL,NULL,NULL,NULL,NULL),(43520,'NCBI Gene PubMed Count',NULL,16414,NULL,NULL,NULL,21,NULL,NULL,NULL),(43521,'NCBI Gene Summary',NULL,16415,NULL,'This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(43522,'NCBI Gene PubMed Count',NULL,16415,NULL,NULL,NULL,11,NULL,NULL,NULL),(43523,'NCBI Gene PubMed Count',NULL,16416,NULL,NULL,NULL,5,NULL,NULL,NULL),(43524,'NCBI Gene PubMed Count',NULL,16417,NULL,NULL,NULL,4,NULL,NULL,NULL),(43525,'NCBI Gene PubMed Count',NULL,16418,NULL,NULL,NULL,12,NULL,NULL,NULL),(43526,'NCBI Gene PubMed Count',NULL,16419,NULL,NULL,NULL,5,NULL,NULL,NULL),(43527,'NCBI Gene Summary',NULL,16420,NULL,'The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. The protein encoded by this gene represents the beta subunit of TFIIE. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(43528,'NCBI Gene PubMed Count',NULL,16420,NULL,NULL,NULL,47,NULL,NULL,NULL),(43529,'NCBI Gene Summary',NULL,16421,NULL,'This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43530,'NCBI Gene PubMed Count',NULL,16421,NULL,NULL,NULL,23,NULL,NULL,NULL),(43531,'NCBI Gene Summary',NULL,16422,NULL,'This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily. These family members are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43532,'NCBI Gene PubMed Count',NULL,16422,NULL,NULL,NULL,30,NULL,NULL,NULL),(43533,'NCBI Gene PubMed Count',NULL,16423,NULL,NULL,NULL,12,NULL,NULL,NULL),(43534,'NCBI Gene PubMed Count',NULL,16424,NULL,NULL,NULL,8,NULL,NULL,NULL),(43535,'NCBI Gene Summary',NULL,16425,NULL,'TAS2R44 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(43536,'NCBI Gene PubMed Count',NULL,16425,NULL,NULL,NULL,19,NULL,NULL,NULL),(43537,'NCBI Gene Summary',NULL,16426,NULL,'This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(43538,'NCBI Gene PubMed Count',NULL,16426,NULL,NULL,NULL,124,NULL,NULL,NULL),(43539,'NCBI Gene PubMed Count',NULL,16427,NULL,NULL,NULL,9,NULL,NULL,NULL),(43540,'NCBI Gene Summary',NULL,16428,NULL,'This gene encodes a member of the bitter taste receptor family which belong to the G protein-coupled receptor superfamily and are predominantly expressed in taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a seven-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered together with eight other taste receptor genes on chromosome 7. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(43541,'NCBI Gene PubMed Count',NULL,16428,NULL,NULL,NULL,13,NULL,NULL,NULL),(43542,'NCBI Gene Summary',NULL,16429,NULL,'The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(43543,'NCBI Gene PubMed Count',NULL,16429,NULL,NULL,NULL,4,NULL,NULL,NULL),(43544,'NCBI Gene PubMed Count',NULL,16430,NULL,NULL,NULL,1,NULL,NULL,NULL),(43545,'NCBI Gene Summary',NULL,16431,NULL,'This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43546,'NCBI Gene PubMed Count',NULL,16431,NULL,NULL,NULL,20,NULL,NULL,NULL),(43547,'NCBI Gene Summary',NULL,16432,NULL,'This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless taste receptor genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3  candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43548,'NCBI Gene PubMed Count',NULL,16432,NULL,NULL,NULL,21,NULL,NULL,NULL),(43549,'NCBI Gene Summary',NULL,16433,NULL,'This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43550,'NCBI Gene PubMed Count',NULL,16433,NULL,NULL,NULL,14,NULL,NULL,NULL),(43551,'NCBI Gene Summary',NULL,16434,NULL,'This gene encodes a member of the G protein-coupled receptor family. The protein interacts with thromboxane A2 to induce platelet aggregation and regulate hemostasis. A mutation in this gene results in a bleeding disorder. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(43552,'NCBI Gene PubMed Count',NULL,16434,NULL,NULL,NULL,133,NULL,NULL,NULL),(43553,'NCBI Gene Summary',NULL,16436,NULL,'This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(43554,'NCBI Gene PubMed Count',NULL,16436,NULL,NULL,NULL,36,NULL,NULL,NULL),(43555,'NCBI Gene PubMed Count',NULL,16437,NULL,NULL,NULL,11,NULL,NULL,NULL),(43556,'NCBI Gene Summary',NULL,16438,NULL,'The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(43557,'NCBI Gene PubMed Count',NULL,16438,NULL,NULL,NULL,18,NULL,NULL,NULL),(43558,'NCBI Gene Summary',NULL,16439,NULL,'The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(43559,'NCBI Gene PubMed Count',NULL,16439,NULL,NULL,NULL,23,NULL,NULL,NULL),(43560,'NCBI Gene Summary',NULL,16440,NULL,'UPK3B is a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b (UPK1B; MIM 602380), one of the major conserved urothelium membrane proteins. The other major conserved integral membrane proteins of urothelial plaques are UPK1A (MIM 611557), UPK2 (MIM 611558), and UPK3A (MIM 611559) (Deng et al., 2002 [PubMed 12446744]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43561,'NCBI Gene PubMed Count',NULL,16440,NULL,NULL,NULL,13,NULL,NULL,NULL),(43562,'NCBI Gene PubMed Count',NULL,16441,NULL,NULL,NULL,1,NULL,NULL,NULL),(43563,'NCBI Gene PubMed Count',NULL,16442,NULL,NULL,NULL,0,NULL,NULL,NULL),(43564,'NCBI Gene Summary',NULL,16443,NULL,'HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43565,'NCBI Gene PubMed Count',NULL,16443,NULL,NULL,NULL,527,NULL,NULL,NULL),(43566,'NCBI Gene Summary',NULL,16444,NULL,'This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2\'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(43567,'NCBI Gene PubMed Count',NULL,16444,NULL,NULL,NULL,11,NULL,NULL,NULL),(43568,'NCBI Gene Summary',NULL,16445,NULL,'Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrogen receptor, for progression through the cell cycle, and may also be required for certain cellular differentiation programs. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43569,'NCBI Gene PubMed Count',NULL,16445,NULL,NULL,NULL,43,NULL,NULL,NULL),(43570,'NCBI Gene PubMed Count',NULL,16446,NULL,NULL,NULL,14,NULL,NULL,NULL),(43571,'NCBI Gene Summary',NULL,16447,NULL,'Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(43572,'NCBI Gene PubMed Count',NULL,16447,NULL,NULL,NULL,27,NULL,NULL,NULL),(43573,'NCBI Gene Summary',NULL,16448,NULL,'Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43574,'NCBI Gene PubMed Count',NULL,16448,NULL,NULL,NULL,56,NULL,NULL,NULL),(43575,'NCBI Gene PubMed Count',NULL,16449,NULL,NULL,NULL,3,NULL,NULL,NULL),(43576,'NCBI Gene Summary',NULL,16450,NULL,'Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43577,'NCBI Gene PubMed Count',NULL,16450,NULL,NULL,NULL,15,NULL,NULL,NULL),(43578,'NCBI Gene PubMed Count',NULL,16451,NULL,NULL,NULL,5,NULL,NULL,NULL),(43579,'NCBI Gene PubMed Count',NULL,16452,NULL,NULL,NULL,18,NULL,NULL,NULL),(43580,'NCBI Gene Summary',NULL,16453,NULL,'Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This protein is a ubiquitin protein ligase and plays a role in muscle wasting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(43581,'NCBI Gene PubMed Count',NULL,16453,NULL,NULL,NULL,21,NULL,NULL,NULL),(43582,'NCBI Gene PubMed Count',NULL,16454,NULL,NULL,NULL,12,NULL,NULL,NULL),(43583,'NCBI Gene PubMed Count',NULL,16455,NULL,NULL,NULL,12,NULL,NULL,NULL),(43584,'NCBI Gene Summary',NULL,16456,NULL,'This gene encodes a ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and are thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This gene is specifically expressed in the testis. It has been suggested that this gene may regulate cell-cycle progression during spermatogenesis, however, it has been shown that the ortholgous mouse gene is dispensable for embryonic development and spermatogenesis. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(43585,'NCBI Gene PubMed Count',NULL,16456,NULL,NULL,NULL,10,NULL,NULL,NULL),(43586,'NCBI Gene Summary',NULL,16457,NULL,'This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5\' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43587,'NCBI Gene PubMed Count',NULL,16457,NULL,NULL,NULL,61,NULL,NULL,NULL),(43588,'NCBI Gene Summary',NULL,16458,NULL,'This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5\' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5\' end of this gene results in two transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43589,'NCBI Gene PubMed Count',NULL,16458,NULL,NULL,NULL,118,NULL,NULL,NULL),(43590,'NCBI Gene Summary',NULL,16459,NULL,'This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5\' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has moderate glucuronidase activity with phenols. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43591,'NCBI Gene PubMed Count',NULL,16459,NULL,NULL,NULL,99,NULL,NULL,NULL),(43592,'NCBI Gene PubMed Count',NULL,16460,NULL,NULL,NULL,7,NULL,NULL,NULL),(43593,'NCBI Gene Summary',NULL,16461,NULL,'This gene is intronless and encodes a member of the ubiquitin-conjugating enzyme family. The protein product is 91% identical to ubiquitin-conjugating enzyme E2N, a multi-exon gene product. This locus represents a polymorphic pseudogene, where some individuals contain an allele that can encode a full-length protein, while others have a non-functional allele containing a premature stop codon (reference SNP rs237520) that truncates the coding sequence. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(43594,'NCBI Gene PubMed Count',NULL,16461,NULL,NULL,NULL,5,NULL,NULL,NULL),(43595,'NCBI Gene PubMed Count',NULL,16462,NULL,NULL,NULL,9,NULL,NULL,NULL),(43596,'NCBI Gene Summary',NULL,16463,NULL,'This gene encodes a member of a small family of proteins that inhibit phospholipase D2 and may function in neuronal plasticity. The encoded protein is abundant in lesions of patients with Alzheimer disease. A mutation in this gene was found in individuals with dementia with Lewy bodies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(43597,'NCBI Gene PubMed Count',NULL,16463,NULL,NULL,NULL,57,NULL,NULL,NULL),(43598,'NCBI Gene Summary',NULL,16464,NULL,'This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(43599,'NCBI Gene PubMed Count',NULL,16464,NULL,NULL,NULL,103,NULL,NULL,NULL),(43600,'NCBI Gene Summary',NULL,16465,NULL,'The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(43601,'NCBI Gene PubMed Count',NULL,16465,NULL,NULL,NULL,40,NULL,NULL,NULL),(43602,'NCBI Gene PubMed Count',NULL,16466,NULL,NULL,NULL,17,NULL,NULL,NULL),(43603,'NCBI Gene Summary',NULL,16467,NULL,'UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(43604,'NCBI Gene PubMed Count',NULL,16467,NULL,NULL,NULL,34,NULL,NULL,NULL),(43605,'NCBI Gene Summary',NULL,16468,NULL,'The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(43606,'NCBI Gene PubMed Count',NULL,16468,NULL,NULL,NULL,255,NULL,NULL,NULL),(43607,'NCBI Gene Summary',NULL,16469,NULL,'The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(43608,'NCBI Gene PubMed Count',NULL,16469,NULL,NULL,NULL,20,NULL,NULL,NULL),(43609,'NCBI Gene PubMed Count',NULL,16470,NULL,NULL,NULL,7,NULL,NULL,NULL),(43610,'NCBI Gene Summary',NULL,16471,NULL,'This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring mutations in this gene are associated with isolated complex I deficiency. A pseudogene of this gene has been defined on chromosome 9. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(43611,'NCBI Gene PubMed Count',NULL,16471,NULL,NULL,NULL,15,NULL,NULL,NULL),(43612,'NCBI Gene PubMed Count',NULL,16472,NULL,NULL,NULL,4,NULL,NULL,NULL),(43613,'NCBI Gene Summary',NULL,16473,NULL,'This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43614,'NCBI Gene PubMed Count',NULL,16473,NULL,NULL,NULL,9,NULL,NULL,NULL),(43615,'NCBI Gene PubMed Count',NULL,16474,NULL,NULL,NULL,8,NULL,NULL,NULL),(43616,'NCBI Gene PubMed Count',NULL,16475,NULL,NULL,NULL,4,NULL,NULL,NULL),(43617,'NCBI Gene PubMed Count',NULL,16476,NULL,NULL,NULL,2,NULL,NULL,NULL),(43618,'NCBI Gene PubMed Count',NULL,16477,NULL,NULL,NULL,0,NULL,NULL,NULL),(43619,'NCBI Gene PubMed Count',NULL,16478,NULL,NULL,NULL,2,NULL,NULL,NULL),(43620,'NCBI Gene PubMed Count',NULL,16479,NULL,NULL,NULL,8,NULL,NULL,NULL),(43621,'NCBI Gene PubMed Count',NULL,16480,NULL,NULL,NULL,6,NULL,NULL,NULL),(43622,'NCBI Gene Summary',NULL,16481,NULL,'This gene encodes a transmembrane protein component of a mechanosensitve ion channel that is activated by mechanical stimuli in various cell types and confers slowly adapting, mechanically activated currents in dorsal root ganglion neurons. Mechanically activated ion channels are sensors that are critical for hearing, touch, pain, and blood pressure regulation. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(43623,'NCBI Gene PubMed Count',NULL,16481,NULL,NULL,NULL,9,NULL,NULL,NULL),(43624,'NCBI Gene PubMed Count',NULL,16482,NULL,NULL,NULL,10,NULL,NULL,NULL),(43625,'NCBI Gene PubMed Count',NULL,16483,NULL,NULL,NULL,2,NULL,NULL,NULL),(43626,'NCBI Gene PubMed Count',NULL,16484,NULL,NULL,NULL,11,NULL,NULL,NULL),(43627,'NCBI Gene PubMed Count',NULL,16485,NULL,NULL,NULL,7,NULL,NULL,NULL),(43628,'NCBI Gene Summary',NULL,16486,NULL,'The protein encoded by this gene is a ligand of natural killer group 2, member D (NKG2D), an immune system-activating receptor on NK cells and T-cells. Binding of the encoded ligand to NKG2D leads to activation of several signal transduction pathways, including those of JAK2, STAT5, ERK and PI3K kinase/Akt. Also, in cytomegalovirus-infected cells, this ligand binds the UL16 glycoprotein and is prevented from activating the immune system. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(43629,'NCBI Gene PubMed Count',NULL,16486,NULL,NULL,NULL,38,NULL,NULL,NULL),(43630,'NCBI Gene Summary',NULL,16487,NULL,'This gene encodes a major histocompatibility complex (MHC) class I-related molecule that binds to the NKG2D receptor on natural killer (NK) cells to trigger release of multiple cytokines and chemokines that in turn contribute to the recruitment and activation of NK cells. The encoded protein undergoes further processing to generate the mature protein that is either anchored to membrane via a glycosylphosphatidylinositol moiety, or secreted. Many malignant cells secrete the encoded protein to evade immunosurveillance by NK cells. This gene is located in a cluster of multiple MHC class I-related genes on chromosome 6. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(43631,'NCBI Gene PubMed Count',NULL,16487,NULL,NULL,NULL,52,NULL,NULL,NULL),(43632,'NCBI Gene Summary',NULL,16488,NULL,'This gene encodes a member of the major histocompatibility complex (MHC) class I family of proteins. Although the encoded protein includes C-terminal transmembrane and cytoplasmic domains, proteolytic processing results in the removal of these domains and subsequent tethering to the plasma membrane by a glycosylphosphatidylinositol (GPI)-anchor. The encoded protein is one of several related ligands of the natural killer group 2, member D (NKG2D) receptor, which functions as an activating receptor in innate and adaptive immunity. This gene is present in a gene cluster on chromosome 6. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(43633,'NCBI Gene PubMed Count',NULL,16488,NULL,NULL,NULL,21,NULL,NULL,NULL),(43634,'NCBI Gene PubMed Count',NULL,16489,NULL,NULL,NULL,132,NULL,NULL,NULL),(43635,'NCBI Gene Summary',NULL,16490,NULL,'This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(43636,'NCBI Gene PubMed Count',NULL,16490,NULL,NULL,NULL,24,NULL,NULL,NULL),(43637,'NCBI Gene PubMed Count',NULL,16491,NULL,NULL,NULL,18,NULL,NULL,NULL),(43638,'NCBI Gene Summary',NULL,16492,NULL,'This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(43639,'NCBI Gene PubMed Count',NULL,16492,NULL,NULL,NULL,25,NULL,NULL,NULL),(43640,'NCBI Gene PubMed Count',NULL,16493,NULL,NULL,NULL,7,NULL,NULL,NULL),(43641,'NCBI Gene PubMed Count',NULL,16494,NULL,NULL,NULL,4,NULL,NULL,NULL),(43642,'NCBI Gene PubMed Count',NULL,16495,NULL,NULL,NULL,3,NULL,NULL,NULL),(43643,'NCBI Gene PubMed Count',NULL,16496,NULL,NULL,NULL,3,NULL,NULL,NULL),(43644,'NCBI Gene PubMed Count',NULL,16497,NULL,NULL,NULL,6,NULL,NULL,NULL),(43645,'NCBI Gene Summary',NULL,16498,NULL,'This gene encodes the anti-inflammatory protein glucocorticoid (GC)-induced leucine zipper. Expression of this gene stimulated by glucocorticoids and interleukin 10 and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid. This protein has also been shown to inhibit pro-inflammatory molecules including nuclear factor &#954;B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(43646,'NCBI Gene PubMed Count',NULL,16498,NULL,NULL,NULL,56,NULL,NULL,NULL),(43647,'NCBI Gene Summary',NULL,16499,NULL,'TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43648,'NCBI Gene PubMed Count',NULL,16499,NULL,NULL,NULL,19,NULL,NULL,NULL),(43649,'NCBI Gene Summary',NULL,16500,NULL,'This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(43650,'NCBI Gene PubMed Count',NULL,16500,NULL,NULL,NULL,24,NULL,NULL,NULL),(43651,'NCBI Gene Summary',NULL,16501,NULL,'This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43652,'NCBI Gene PubMed Count',NULL,16501,NULL,NULL,NULL,59,NULL,NULL,NULL),(43653,'NCBI Gene Summary',NULL,16502,NULL,'This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(43654,'NCBI Gene PubMed Count',NULL,16502,NULL,NULL,NULL,26,NULL,NULL,NULL),(43655,'NCBI Gene Summary',NULL,16503,NULL,'This gene encodes a heme enzyme that plays a critical role in tryptophan metabolism by catalyzing the first and rate-limiting step of the kynurenine pathway. Increased activity of the encoded protein and subsequent kynurenine production may also play a role in cancer through the suppression of antitumor immune responses, and single nucleotide polymorphisms in this gene may be associated with autism. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(43656,'NCBI Gene PubMed Count',NULL,16503,NULL,NULL,NULL,40,NULL,NULL,NULL),(43657,'NCBI Gene Summary',NULL,16504,NULL,'This gene encodes a homeobox transcription factor that is involved in somitogenesis and neurogenesis and is required for the maintenance and differentiation of specific elements of the axial skeleton. This gene also plays a role in controlling the development of connections of hypothalamic neurons to pituitary elements, allowing central neurons to reach the peripheral blood circulation and deliver hormones that control peripheral functions. The expression of this gene is associated with an increased frequency of acute myeloid leukemia. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(43658,'NCBI Gene PubMed Count',NULL,16504,NULL,NULL,NULL,8,NULL,NULL,NULL),(43659,'NCBI Gene PubMed Count',NULL,16505,NULL,NULL,NULL,5,NULL,NULL,NULL),(43660,'NCBI Gene Summary',NULL,16506,NULL,'This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43661,'NCBI Gene PubMed Count',NULL,16506,NULL,NULL,NULL,40,NULL,NULL,NULL),(43662,'NCBI Gene PubMed Count',NULL,16507,NULL,NULL,NULL,14,NULL,NULL,NULL),(43663,'NCBI Gene Summary',NULL,16508,NULL,'Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and the general initiation factors TFIIA, TFIIB (MIM 189963), TFIID (MIM 313650), TFIIE (MIM 189962), TFIIF (MIM 189968), TFIIG/TFIIJ, and TFIIH (MIM 189972). The first step involves recognition of the TATA element by the TATA-binding subunit (TBP; MIM 600075) and may be regulated by TFIIA, a factor that interacts with both TBP and a TBP-associated factor (TAF; MIM 600475) in TFIID. TFIIA has 2 subunits (43 and 12 kD) in yeast and 3 subunits in higher eukaryotes. In HeLa extracts, it consists of a 35-kD alpha subunit and a 19-kD beta subunit encoded by the N- and C-terminal regions of GTF2A1 (MIM 600520), respectively, and a 12-kD gamma subunit encoded by GTF2A2 (DeJong et al., 1995 [PubMed 7724559]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43664,'NCBI Gene PubMed Count',NULL,16508,NULL,NULL,NULL,31,NULL,NULL,NULL),(43665,'NCBI Gene Summary',NULL,16509,NULL,'The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(43666,'NCBI Gene PubMed Count',NULL,16509,NULL,NULL,NULL,8,NULL,NULL,NULL),(43667,'NCBI Gene Summary',NULL,16510,NULL,'The protein encoded by this gene is a component of a voltage-independent \'leak\' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(43668,'NCBI Gene PubMed Count',NULL,16510,NULL,NULL,NULL,21,NULL,NULL,NULL),(43669,'NCBI Gene PubMed Count',NULL,16511,NULL,NULL,NULL,45,NULL,NULL,NULL),(43670,'NCBI Gene PubMed Count',NULL,16512,NULL,NULL,NULL,81,NULL,NULL,NULL),(43671,'NCBI Gene PubMed Count',NULL,16513,NULL,NULL,NULL,4,NULL,NULL,NULL),(43672,'NCBI Gene Summary',NULL,16514,NULL,'The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(43673,'NCBI Gene PubMed Count',NULL,16514,NULL,NULL,NULL,11,NULL,NULL,NULL),(43674,'NCBI Gene Summary',NULL,16515,NULL,'This gene encodes a protein which contains a vitamin K-dependent carboxylation/gamma-carboxyglutamic domain. The encoded protein is a member of a family of vitamin K-dependent transmembrane proteins which contain a glutamate-rich extracellular domain. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(43675,'NCBI Gene PubMed Count',NULL,16515,NULL,NULL,NULL,5,NULL,NULL,NULL),(43676,'NCBI Gene Summary',NULL,16516,NULL,'The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43677,'NCBI Gene PubMed Count',NULL,16516,NULL,NULL,NULL,49,NULL,NULL,NULL),(43678,'NCBI Gene Summary',NULL,16517,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(43679,'NCBI Gene PubMed Count',NULL,16517,NULL,NULL,NULL,20,NULL,NULL,NULL),(43680,'NCBI Gene PubMed Count',NULL,16518,NULL,NULL,NULL,9,NULL,NULL,NULL),(43681,'NCBI Gene Summary',NULL,16519,NULL,'This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nuclear ribonucleoprotein polypeptide N) from a downstream open reading frame. The small protein represented by this gene is encoded by an evolutionarily-conserved upstream open reading frame and is localized to the nucleus. Extensive alternative splicing and promoter usage occurs in this region and the full-length nature of some of these transcripts has not been determined. Alterations in the imprinting center are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(43682,'NCBI Gene PubMed Count',NULL,16519,NULL,NULL,NULL,24,NULL,NULL,NULL),(43683,'NCBI Gene PubMed Count',NULL,16520,NULL,NULL,NULL,12,NULL,NULL,NULL),(43684,'NCBI Gene Summary',NULL,16521,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43685,'NCBI Gene PubMed Count',NULL,16521,NULL,NULL,NULL,23,NULL,NULL,NULL),(43686,'NCBI Gene Summary',NULL,16522,NULL,'This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43687,'NCBI Gene PubMed Count',NULL,16522,NULL,NULL,NULL,25,NULL,NULL,NULL),(43688,'NCBI Gene Summary',NULL,16523,NULL,'This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43689,'NCBI Gene PubMed Count',NULL,16523,NULL,NULL,NULL,345,NULL,NULL,NULL),(43690,'NCBI Gene Summary',NULL,16524,NULL,'This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(43691,'NCBI Gene PubMed Count',NULL,16524,NULL,NULL,NULL,34,NULL,NULL,NULL),(43692,'NCBI Gene PubMed Count',NULL,16525,NULL,NULL,NULL,3,NULL,NULL,NULL),(43693,'NCBI Gene PubMed Count',NULL,16526,NULL,NULL,NULL,11,NULL,NULL,NULL),(43694,'NCBI Gene Summary',NULL,16527,NULL,'This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(43695,'NCBI Gene PubMed Count',NULL,16527,NULL,NULL,NULL,154,NULL,NULL,NULL),(43696,'NCBI Gene Summary',NULL,16528,NULL,'This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43697,'NCBI Gene PubMed Count',NULL,16528,NULL,NULL,NULL,149,NULL,NULL,NULL),(43698,'NCBI Gene Summary',NULL,16529,NULL,'This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(43699,'NCBI Gene PubMed Count',NULL,16529,NULL,NULL,NULL,24,NULL,NULL,NULL),(43700,'NCBI Gene Summary',NULL,16530,NULL,'This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43701,'NCBI Gene PubMed Count',NULL,16530,NULL,NULL,NULL,22,NULL,NULL,NULL),(43702,'NCBI Gene Summary',NULL,16531,NULL,'This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43703,'NCBI Gene PubMed Count',NULL,16531,NULL,NULL,NULL,25,NULL,NULL,NULL),(43704,'NCBI Gene Summary',NULL,16532,NULL,'This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(43705,'NCBI Gene PubMed Count',NULL,16532,NULL,NULL,NULL,69,NULL,NULL,NULL),(43706,'NCBI Gene Summary',NULL,16533,NULL,'This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43707,'NCBI Gene PubMed Count',NULL,16533,NULL,NULL,NULL,43,NULL,NULL,NULL),(43708,'NCBI Gene Summary',NULL,16534,NULL,'This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the cognitive disability found in an alpha-thalassemia-related syndrome (ART-16). This protein is also highly expressed in the majority of human hepatocellular carcinomas and promotes cellular proliferation and enhanced tumor growth. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(43709,'NCBI Gene PubMed Count',NULL,16534,NULL,NULL,NULL,22,NULL,NULL,NULL),(43710,'NCBI Gene Summary',NULL,16535,NULL,'SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG box of the SRY protein (MIM 480000). SOX proteins are divided into 6 subgroups based on sequence similarity within and outside of the HMG domain. For additional background information on SOX genes, see SOX1 (MIM 602148).[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(43711,'NCBI Gene PubMed Count',NULL,16535,NULL,NULL,NULL,16,NULL,NULL,NULL),(43712,'NCBI Gene Summary',NULL,16536,NULL,'This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(43713,'NCBI Gene PubMed Count',NULL,16536,NULL,NULL,NULL,61,NULL,NULL,NULL),(43714,'NCBI Gene Summary',NULL,16537,NULL,'SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43715,'NCBI Gene PubMed Count',NULL,16537,NULL,NULL,NULL,8,NULL,NULL,NULL),(43716,'NCBI Gene PubMed Count',NULL,16538,NULL,NULL,NULL,9,NULL,NULL,NULL),(43717,'NCBI Gene PubMed Count',NULL,16539,NULL,NULL,NULL,15,NULL,NULL,NULL),(43718,'NCBI Gene Summary',NULL,16540,NULL,'This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The use of alternative translational initiation sites in this gene results in a single transcript variant that can produce isoforms that differ in the length of their N-terminus and which thereby differ in the efficiency of their export from the nucleus to the cytoplasm. In addition, alternative splicing results in multiple transcript variants that encode isoforms that differ in other protein regions as well. One isoform of this gene has been shown to be a microtubule-severing enzyme that regulates microtubule abundance, mobility, and plus-end distribution. Mutations in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(43719,'NCBI Gene PubMed Count',NULL,16540,NULL,NULL,NULL,166,NULL,NULL,NULL),(43720,'NCBI Gene PubMed Count',NULL,16541,NULL,NULL,NULL,22,NULL,NULL,NULL),(43721,'NCBI Gene Summary',NULL,16542,NULL,'This locus represents naturally occurring read-through transcription from the neighboring fucose-1-phosphate guanylyltransferase (FPGT) and TNNI3 interacting kinase (TNNI3K) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(43722,'NCBI Gene PubMed Count',NULL,16542,NULL,NULL,NULL,7,NULL,NULL,NULL),(43723,'NCBI Gene PubMed Count',NULL,16543,NULL,NULL,NULL,7,NULL,NULL,NULL),(43724,'NCBI Gene PubMed Count',NULL,16544,NULL,NULL,NULL,37,NULL,NULL,NULL),(43725,'NCBI Gene PubMed Count',NULL,16545,NULL,NULL,NULL,49,NULL,NULL,NULL),(43726,'NCBI Gene Summary',NULL,16546,NULL,'The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(43727,'NCBI Gene PubMed Count',NULL,16546,NULL,NULL,NULL,7,NULL,NULL,NULL),(43728,'NCBI Gene Summary',NULL,16547,NULL,'This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(43729,'NCBI Gene PubMed Count',NULL,16547,NULL,NULL,NULL,41,NULL,NULL,NULL),(43730,'NCBI Gene PubMed Count',NULL,16548,NULL,NULL,NULL,1,NULL,NULL,NULL),(43731,'NCBI Gene PubMed Count',NULL,16549,NULL,NULL,NULL,5,NULL,NULL,NULL),(43732,'NCBI Gene PubMed Count',NULL,16550,NULL,NULL,NULL,8,NULL,NULL,NULL),(43733,'NCBI Gene PubMed Count',NULL,16551,NULL,NULL,NULL,4,NULL,NULL,NULL),(43734,'NCBI Gene Summary',NULL,16552,NULL,'SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43735,'NCBI Gene PubMed Count',NULL,16552,NULL,NULL,NULL,39,NULL,NULL,NULL),(43736,'NCBI Gene Summary',NULL,16553,NULL,'This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(43737,'NCBI Gene PubMed Count',NULL,16553,NULL,NULL,NULL,222,NULL,NULL,NULL),(43738,'NCBI Gene Summary',NULL,16554,NULL,'The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43739,'NCBI Gene PubMed Count',NULL,16554,NULL,NULL,NULL,46,NULL,NULL,NULL),(43740,'NCBI Gene Summary',NULL,16555,NULL,'This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this gene have been associated with generalized thyrotropin-releasing hormone resistance. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(43741,'NCBI Gene PubMed Count',NULL,16555,NULL,NULL,NULL,31,NULL,NULL,NULL),(43742,'NCBI Gene PubMed Count',NULL,16556,NULL,NULL,NULL,4,NULL,NULL,NULL),(43743,'NCBI Gene Summary',NULL,16557,NULL,'The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(43744,'NCBI Gene PubMed Count',NULL,16557,NULL,NULL,NULL,24,NULL,NULL,NULL),(43745,'NCBI Gene Summary',NULL,16558,NULL,'This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(43746,'NCBI Gene PubMed Count',NULL,16558,NULL,NULL,NULL,13,NULL,NULL,NULL),(43747,'NCBI Gene Summary',NULL,16559,NULL,'This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3\' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(43748,'NCBI Gene PubMed Count',NULL,16559,NULL,NULL,NULL,23,NULL,NULL,NULL),(43749,'NCBI Gene Summary',NULL,16560,NULL,'The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(43750,'NCBI Gene PubMed Count',NULL,16560,NULL,NULL,NULL,38,NULL,NULL,NULL),(43751,'NCBI Gene PubMed Count',NULL,16561,NULL,NULL,NULL,40,NULL,NULL,NULL),(43752,'NCBI Gene PubMed Count',NULL,16562,NULL,NULL,NULL,43,NULL,NULL,NULL),(43753,'NCBI Gene Summary',NULL,16563,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies and its function has not been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(43754,'NCBI Gene PubMed Count',NULL,16563,NULL,NULL,NULL,23,NULL,NULL,NULL),(43755,'NCBI Gene PubMed Count',NULL,16564,NULL,NULL,NULL,21,NULL,NULL,NULL),(43756,'NCBI Gene Summary',NULL,16565,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the \'RING-B box-coiled coil\' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(43757,'NCBI Gene PubMed Count',NULL,16565,NULL,NULL,NULL,72,NULL,NULL,NULL),(43758,'NCBI Gene Summary',NULL,16566,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the cytoplasm and its expression is induced by interferon. The protein down-regulates transcription from the HIV-1 LTR promoter region, suggesting that function of this protein may be to mediate interferon\'s antiviral effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(43759,'NCBI Gene PubMed Count',NULL,16566,NULL,NULL,NULL,56,NULL,NULL,NULL),(43760,'NCBI Gene Summary',NULL,16567,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(43761,'NCBI Gene PubMed Count',NULL,16567,NULL,NULL,NULL,22,NULL,NULL,NULL),(43762,'NCBI Gene Summary',NULL,16568,NULL,'This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(43763,'NCBI Gene PubMed Count',NULL,16568,NULL,NULL,NULL,147,NULL,NULL,NULL),(43764,'NCBI Gene Summary',NULL,16569,NULL,'The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a leucine zipper motif. It has been proposed to form homo- or heterodimers which are involved in nucleic acid binding. Thus, it may act as a transcriptional regulatory factor involved in carcinogenesis and/or differentiation. It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43765,'NCBI Gene PubMed Count',NULL,16569,NULL,NULL,NULL,58,NULL,NULL,NULL),(43766,'NCBI Gene Summary',NULL,16570,NULL,'The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43767,'NCBI Gene PubMed Count',NULL,16570,NULL,NULL,NULL,39,NULL,NULL,NULL),(43768,'NCBI Gene Summary',NULL,16571,NULL,'The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(43769,'NCBI Gene PubMed Count',NULL,16571,NULL,NULL,NULL,43,NULL,NULL,NULL),(43770,'NCBI Gene Summary',NULL,16572,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43771,'NCBI Gene PubMed Count',NULL,16572,NULL,NULL,NULL,11,NULL,NULL,NULL),(43772,'NCBI Gene PubMed Count',NULL,16573,NULL,NULL,NULL,18,NULL,NULL,NULL),(43773,'NCBI Gene PubMed Count',NULL,16574,NULL,NULL,NULL,9,NULL,NULL,NULL),(43774,'NCBI Gene PubMed Count',NULL,16575,NULL,NULL,NULL,5,NULL,NULL,NULL),(43775,'NCBI Gene Summary',NULL,16576,NULL,'This gene encodes a member of the tripartite motif-containing protein family, whose members are characterized by a \"really interesting new gene\" (RING) finger domain, a zinc-binding B-box motif, and a coiled-coil region. Members of this family function as E3 ubiquitin ligases and are involved in a broad range of biological processes. This gene regulates the activation of nuclear receptors, such as androgen receptor, and has been implicated in development of prostate cancer cells, where its expression increases in response to a downregulation of microRNAs. In addition, this gene participates in viral defense regulation as a negative regulator of interferon-beta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(43776,'NCBI Gene PubMed Count',NULL,16576,NULL,NULL,NULL,18,NULL,NULL,NULL),(43777,'NCBI Gene PubMed Count',NULL,16577,NULL,NULL,NULL,14,NULL,NULL,NULL),(43778,'NCBI Gene Summary',NULL,16578,NULL,'This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(43779,'NCBI Gene PubMed Count',NULL,16578,NULL,NULL,NULL,26,NULL,NULL,NULL),(43780,'NCBI Gene Summary',NULL,16579,NULL,'This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(43781,'NCBI Gene PubMed Count',NULL,16579,NULL,NULL,NULL,62,NULL,NULL,NULL),(43782,'NCBI Gene Summary',NULL,16580,NULL,'The protein encoded by this gene is a putative protein kinase that is induced by the transcription factor NF-kappaB. The encoded protein is a negative regulator of NF-kappaB and can also sensitize cells to TNF- and TRAIL-induced apoptosis. In addition, this protein can negatively regulate the cell survival serine-threonine kinase AKT1. Differential promoter usage and alternate splicing result in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(43783,'NCBI Gene PubMed Count',NULL,16580,NULL,NULL,NULL,103,NULL,NULL,NULL),(43784,'NCBI Gene Summary',NULL,16581,NULL,'This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(43785,'NCBI Gene PubMed Count',NULL,16581,NULL,NULL,NULL,22,NULL,NULL,NULL),(43786,'NCBI Gene Summary',NULL,16582,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to microtubular structures in the cytoplasm. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(43787,'NCBI Gene PubMed Count',NULL,16582,NULL,NULL,NULL,21,NULL,NULL,NULL),(43788,'NCBI Gene Summary',NULL,16583,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the \'RING-B-box-coiled-coil\' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic filaments. It is similar to a rat protein which is a specific partner for the tail domain of myosin V, a class of myosins which are involved in the targeted transport of organelles. The rat protein can also interact with alpha-actinin-4. Thus it is suggested that this human protein may play a role in myosin V-mediated cargo transport. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43789,'NCBI Gene PubMed Count',NULL,16583,NULL,NULL,NULL,25,NULL,NULL,NULL),(43790,'NCBI Gene Summary',NULL,16584,NULL,'The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein forms homo-oligomers via the coilel-coil region and localizes to cytoplasmic bodies. It appears to function as a E3 ubiquitin-ligase and ubiqutinates itself to regulate its subcellular localization. It may play a role in retroviral restriction. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(43791,'NCBI Gene PubMed Count',NULL,16584,NULL,NULL,NULL,130,NULL,NULL,NULL),(43792,'NCBI Gene Summary',NULL,16585,NULL,'The protein encoded by this gene is a tripartite motif family protein with similarities to E3 ubiquitin-protein ligases. While the function of the encoded protein has not been determined, the orthologous protein in mouse has been shown to bind ubiquitin-specific protease 5 and is involved in the blastocyst development stage. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(43793,'NCBI Gene PubMed Count',NULL,16585,NULL,NULL,NULL,6,NULL,NULL,NULL),(43794,'NCBI Gene Summary',NULL,16586,NULL,'This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(43795,'NCBI Gene PubMed Count',NULL,16586,NULL,NULL,NULL,7,NULL,NULL,NULL),(43796,'NCBI Gene Summary',NULL,16587,NULL,'This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(43797,'NCBI Gene PubMed Count',NULL,16587,NULL,NULL,NULL,51,NULL,NULL,NULL),(43798,'NCBI Gene Summary',NULL,16588,NULL,'This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as thyroid hormone receptor and retinoid X receptor alpha, but not glucocorticoid receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(43799,'NCBI Gene PubMed Count',NULL,16588,NULL,NULL,NULL,17,NULL,NULL,NULL),(43800,'NCBI Gene Summary',NULL,16589,NULL,'This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43801,'NCBI Gene PubMed Count',NULL,16589,NULL,NULL,NULL,52,NULL,NULL,NULL),(43802,'NCBI Gene Summary',NULL,16590,NULL,'This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(43803,'NCBI Gene PubMed Count',NULL,16590,NULL,NULL,NULL,29,NULL,NULL,NULL),(43804,'NCBI Gene PubMed Count',NULL,16591,NULL,NULL,NULL,4,NULL,NULL,NULL),(43805,'NCBI Gene PubMed Count',NULL,16592,NULL,NULL,NULL,7,NULL,NULL,NULL),(43806,'NCBI Gene Summary',NULL,16593,NULL,'This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(43807,'NCBI Gene PubMed Count',NULL,16593,NULL,NULL,NULL,11,NULL,NULL,NULL),(43808,'NCBI Gene Summary',NULL,16594,NULL,'This gene encodes a member of the synaptonemal complex, which links homologous chromosomes during prophase I of meiosis. The tripartite structure of the complex is highly conserved amongst metazoans. It consists of two lateral elements and a central region formed by transverse elements and a central element. The protein encoded by this gene localizes to the central element and is required for initiation and elongation of the synapsis. Allelic variants of this gene have been associated with premature ovarian failure and spermatogenic failure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(43809,'NCBI Gene PubMed Count',NULL,16594,NULL,NULL,NULL,16,NULL,NULL,NULL),(43810,'NCBI Gene Summary',NULL,16595,NULL,'This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(43811,'NCBI Gene PubMed Count',NULL,16595,NULL,NULL,NULL,32,NULL,NULL,NULL),(43812,'NCBI Gene Summary',NULL,16596,NULL,'This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(43813,'NCBI Gene PubMed Count',NULL,16596,NULL,NULL,NULL,14,NULL,NULL,NULL),(43814,'NCBI Gene Summary',NULL,16597,NULL,'This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(43815,'NCBI Gene PubMed Count',NULL,16597,NULL,NULL,NULL,38,NULL,NULL,NULL),(43816,'NCBI Gene PubMed Count',NULL,16598,NULL,NULL,NULL,10,NULL,NULL,NULL),(43817,'NCBI Gene Summary',NULL,16599,NULL,'This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3\' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43818,'NCBI Gene PubMed Count',NULL,16599,NULL,NULL,NULL,15,NULL,NULL,NULL),(43819,'NCBI Gene PubMed Count',NULL,16600,NULL,NULL,NULL,12,NULL,NULL,NULL),(43820,'NCBI Gene PubMed Count',NULL,16601,NULL,NULL,NULL,20,NULL,NULL,NULL),(43821,'NCBI Gene Summary',NULL,16602,NULL,'The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(43822,'NCBI Gene PubMed Count',NULL,16602,NULL,NULL,NULL,22,NULL,NULL,NULL),(43823,'NCBI Gene PubMed Count',NULL,16603,NULL,NULL,NULL,41,NULL,NULL,NULL),(43824,'NCBI Gene PubMed Count',NULL,16604,NULL,NULL,NULL,9,NULL,NULL,NULL),(43825,'NCBI Gene PubMed Count',NULL,16605,NULL,NULL,NULL,11,NULL,NULL,NULL),(43826,'NCBI Gene Summary',NULL,16606,NULL,'This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(43827,'NCBI Gene PubMed Count',NULL,16606,NULL,NULL,NULL,80,NULL,NULL,NULL),(43828,'NCBI Gene Summary',NULL,16607,NULL,'UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43829,'NCBI Gene PubMed Count',NULL,16607,NULL,NULL,NULL,21,NULL,NULL,NULL),(43830,'NCBI Gene Summary',NULL,16608,NULL,'Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43831,'NCBI Gene PubMed Count',NULL,16608,NULL,NULL,NULL,22,NULL,NULL,NULL),(43832,'NCBI Gene Summary',NULL,16609,NULL,'UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(43833,'NCBI Gene PubMed Count',NULL,16609,NULL,NULL,NULL,15,NULL,NULL,NULL),(43834,'NCBI Gene PubMed Count',NULL,16610,NULL,NULL,NULL,4,NULL,NULL,NULL),(43835,'NCBI Gene Summary',NULL,16611,NULL,'This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(43836,'NCBI Gene PubMed Count',NULL,16611,NULL,NULL,NULL,146,NULL,NULL,NULL),(43837,'NCBI Gene Summary',NULL,16612,NULL,'Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43838,'NCBI Gene PubMed Count',NULL,16612,NULL,NULL,NULL,46,NULL,NULL,NULL),(43839,'NCBI Gene Summary',NULL,16613,NULL,'This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(43840,'NCBI Gene PubMed Count',NULL,16613,NULL,NULL,NULL,35,NULL,NULL,NULL),(43841,'NCBI Gene Summary',NULL,16614,NULL,'This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(43842,'NCBI Gene PubMed Count',NULL,16614,NULL,NULL,NULL,20,NULL,NULL,NULL),(43843,'NCBI Gene PubMed Count',NULL,16615,NULL,NULL,NULL,9,NULL,NULL,NULL),(43844,'NCBI Gene Summary',NULL,16616,NULL,'This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(43845,'NCBI Gene PubMed Count',NULL,16616,NULL,NULL,NULL,60,NULL,NULL,NULL),(43846,'NCBI Gene PubMed Count',NULL,16617,NULL,NULL,NULL,18,NULL,NULL,NULL),(43847,'NCBI Gene PubMed Count',NULL,16618,NULL,NULL,NULL,6,NULL,NULL,NULL),(43848,'NCBI Gene PubMed Count',NULL,16619,NULL,NULL,NULL,13,NULL,NULL,NULL),(43849,'NCBI Gene PubMed Count',NULL,16620,NULL,NULL,NULL,8,NULL,NULL,NULL),(43850,'NCBI Gene PubMed Count',NULL,16621,NULL,NULL,NULL,4,NULL,NULL,NULL),(43851,'NCBI Gene Summary',NULL,16622,NULL,'This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(43852,'NCBI Gene PubMed Count',NULL,16622,NULL,NULL,NULL,15,NULL,NULL,NULL),(43853,'NCBI Gene Summary',NULL,16623,NULL,'The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43854,'NCBI Gene PubMed Count',NULL,16623,NULL,NULL,NULL,15,NULL,NULL,NULL),(43855,'NCBI Gene PubMed Count',NULL,16624,NULL,NULL,NULL,18,NULL,NULL,NULL),(43856,'NCBI Gene Summary',NULL,16625,NULL,'Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43857,'NCBI Gene PubMed Count',NULL,16625,NULL,NULL,NULL,401,NULL,NULL,NULL),(43858,'NCBI Gene PubMed Count',NULL,16626,NULL,NULL,NULL,22,NULL,NULL,NULL),(43859,'NCBI Gene Summary',NULL,16627,NULL,'This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(43860,'NCBI Gene PubMed Count',NULL,16627,NULL,NULL,NULL,23,NULL,NULL,NULL),(43861,'NCBI Gene PubMed Count',NULL,16628,NULL,NULL,NULL,4,NULL,NULL,NULL),(43862,'NCBI Gene Summary',NULL,16629,NULL,'The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43863,'NCBI Gene PubMed Count',NULL,16629,NULL,NULL,NULL,232,NULL,NULL,NULL),(43864,'NCBI Gene PubMed Count',NULL,16630,NULL,NULL,NULL,12,NULL,NULL,NULL),(43865,'NCBI Gene Summary',NULL,16631,NULL,'The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(43866,'NCBI Gene PubMed Count',NULL,16631,NULL,NULL,NULL,29,NULL,NULL,NULL),(43867,'NCBI Gene Summary',NULL,16632,NULL,'This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(43868,'NCBI Gene PubMed Count',NULL,16632,NULL,NULL,NULL,23,NULL,NULL,NULL),(43869,'NCBI Gene Summary',NULL,16633,NULL,'Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the \'pita bread fold\' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms.  A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43870,'NCBI Gene PubMed Count',NULL,16633,NULL,NULL,NULL,26,NULL,NULL,NULL),(43871,'NCBI Gene Summary',NULL,16634,NULL,'The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43872,'NCBI Gene PubMed Count',NULL,16634,NULL,NULL,NULL,6,NULL,NULL,NULL),(43873,'NCBI Gene Summary',NULL,16635,NULL,'The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43874,'NCBI Gene PubMed Count',NULL,16635,NULL,NULL,NULL,6,NULL,NULL,NULL),(43875,'NCBI Gene Summary',NULL,16636,NULL,'The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43876,'NCBI Gene PubMed Count',NULL,16636,NULL,NULL,NULL,5,NULL,NULL,NULL),(43877,'NCBI Gene PubMed Count',NULL,16637,NULL,NULL,NULL,11,NULL,NULL,NULL),(43878,'NCBI Gene Summary',NULL,16638,NULL,'The mitochondrial protein encoded by this gene belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(43879,'NCBI Gene PubMed Count',NULL,16638,NULL,NULL,NULL,17,NULL,NULL,NULL),(43880,'NCBI Gene PubMed Count',NULL,16639,NULL,NULL,NULL,7,NULL,NULL,NULL),(43881,'NCBI Gene PubMed Count',NULL,16640,NULL,NULL,NULL,3,NULL,NULL,NULL),(43882,'NCBI Gene Summary',NULL,16641,NULL,'This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(43883,'NCBI Gene PubMed Count',NULL,16641,NULL,NULL,NULL,21,NULL,NULL,NULL),(43884,'NCBI Gene PubMed Count',NULL,16642,NULL,NULL,NULL,7,NULL,NULL,NULL),(43885,'NCBI Gene PubMed Count',NULL,16643,NULL,NULL,NULL,4,NULL,NULL,NULL),(43886,'NCBI Gene PubMed Count',NULL,16644,NULL,NULL,NULL,30,NULL,NULL,NULL),(43887,'NCBI Gene Summary',NULL,16645,NULL,'This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43888,'NCBI Gene PubMed Count',NULL,16645,NULL,NULL,NULL,31,NULL,NULL,NULL),(43889,'NCBI Gene PubMed Count',NULL,16646,NULL,NULL,NULL,10,NULL,NULL,NULL),(43890,'NCBI Gene Summary',NULL,16647,NULL,'This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding motif. This protein has been shown to interact with Tollip, clathrin and ubiquitin and is thought to play a role in endosomal sorting. This gene resides in the 3.7 Mb deletion of chromosome region 17p11.2 that is associated with Smith-Magenis syndrome. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(43891,'NCBI Gene PubMed Count',NULL,16647,NULL,NULL,NULL,21,NULL,NULL,NULL),(43892,'NCBI Gene Summary',NULL,16648,NULL,'This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(43893,'NCBI Gene PubMed Count',NULL,16648,NULL,NULL,NULL,23,NULL,NULL,NULL),(43894,'NCBI Gene Summary',NULL,16649,NULL,'This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5\' processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mitochondrial ribonuclease P and may be essential for transcript processing, RNA modification, translation and mitochondrial respiration. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(43895,'NCBI Gene PubMed Count',NULL,16649,NULL,NULL,NULL,19,NULL,NULL,NULL),(43896,'NCBI Gene PubMed Count',NULL,16650,NULL,NULL,NULL,2,NULL,NULL,NULL),(43897,'NCBI Gene PubMed Count',NULL,16651,NULL,NULL,NULL,12,NULL,NULL,NULL),(43898,'NCBI Gene PubMed Count',NULL,16652,NULL,NULL,NULL,10,NULL,NULL,NULL),(43899,'NCBI Gene PubMed Count',NULL,16653,NULL,NULL,NULL,2,NULL,NULL,NULL),(43900,'NCBI Gene PubMed Count',NULL,16654,NULL,NULL,NULL,7,NULL,NULL,NULL),(43901,'NCBI Gene Summary',NULL,16655,NULL,'The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43902,'NCBI Gene PubMed Count',NULL,16655,NULL,NULL,NULL,296,NULL,NULL,NULL),(43903,'NCBI Gene PubMed Count',NULL,16656,NULL,NULL,NULL,7,NULL,NULL,NULL),(43904,'NCBI Gene PubMed Count',NULL,16657,NULL,NULL,NULL,7,NULL,NULL,NULL),(43905,'NCBI Gene PubMed Count',NULL,16658,NULL,NULL,NULL,4,NULL,NULL,NULL),(43906,'NCBI Gene Summary',NULL,16659,NULL,'This gene encodes a highly conserved protein which is localized in the endoplasmic reticulum (ER). The protein is linked to autophagy and ER stress. Knockdown of this gene increased autophagy and triggered ER stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(43907,'NCBI Gene PubMed Count',NULL,16659,NULL,NULL,NULL,4,NULL,NULL,NULL),(43908,'NCBI Gene PubMed Count',NULL,16660,NULL,NULL,NULL,8,NULL,NULL,NULL),(43909,'NCBI Gene PubMed Count',NULL,16661,NULL,NULL,NULL,7,NULL,NULL,NULL),(43910,'NCBI Gene PubMed Count',NULL,16662,NULL,NULL,NULL,15,NULL,NULL,NULL),(43911,'NCBI Gene Summary',NULL,16663,NULL,'This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(43912,'NCBI Gene PubMed Count',NULL,16663,NULL,NULL,NULL,15,NULL,NULL,NULL),(43913,'NCBI Gene PubMed Count',NULL,16664,NULL,NULL,NULL,13,NULL,NULL,NULL),(43914,'NCBI Gene PubMed Count',NULL,16665,NULL,NULL,NULL,8,NULL,NULL,NULL),(43915,'NCBI Gene PubMed Count',NULL,16666,NULL,NULL,NULL,9,NULL,NULL,NULL),(43916,'NCBI Gene PubMed Count',NULL,16667,NULL,NULL,NULL,10,NULL,NULL,NULL),(43917,'NCBI Gene PubMed Count',NULL,16668,NULL,NULL,NULL,15,NULL,NULL,NULL),(43918,'NCBI Gene Summary',NULL,16669,NULL,'This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43919,'NCBI Gene PubMed Count',NULL,16669,NULL,NULL,NULL,14,NULL,NULL,NULL),(43920,'NCBI Gene PubMed Count',NULL,16670,NULL,NULL,NULL,6,NULL,NULL,NULL),(43921,'NCBI Gene PubMed Count',NULL,16671,NULL,NULL,NULL,11,NULL,NULL,NULL),(43922,'NCBI Gene PubMed Count',NULL,16672,NULL,NULL,NULL,16,NULL,NULL,NULL),(43923,'NCBI Gene PubMed Count',NULL,16673,NULL,NULL,NULL,11,NULL,NULL,NULL),(43924,'NCBI Gene Summary',NULL,16674,NULL,'This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(43925,'NCBI Gene PubMed Count',NULL,16674,NULL,NULL,NULL,26,NULL,NULL,NULL),(43926,'NCBI Gene PubMed Count',NULL,16675,NULL,NULL,NULL,4,NULL,NULL,NULL),(43927,'NCBI Gene Summary',NULL,16676,NULL,'This gene encodes a member of the monovalent cation:proton antiporter 2 (CPA2) family of transporter proteins. Members of this family typically couple the export of monovalent cations, such as potassium or sodium, to the import of protons across cellular membranes. Mutations in this gene have been identified in patients with a rare inherited vision defect, cornea guttata with anterior polar cataract. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(43928,'NCBI Gene PubMed Count',NULL,16676,NULL,NULL,NULL,8,NULL,NULL,NULL),(43929,'NCBI Gene PubMed Count',NULL,16677,NULL,NULL,NULL,3,NULL,NULL,NULL),(43930,'NCBI Gene PubMed Count',NULL,16678,NULL,NULL,NULL,10,NULL,NULL,NULL),(43931,'NCBI Gene PubMed Count',NULL,16679,NULL,NULL,NULL,4,NULL,NULL,NULL),(43932,'NCBI Gene PubMed Count',NULL,16680,NULL,NULL,NULL,5,NULL,NULL,NULL),(43933,'NCBI Gene PubMed Count',NULL,16681,NULL,NULL,NULL,2,NULL,NULL,NULL),(43934,'NCBI Gene Summary',NULL,16682,NULL,'This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(43935,'NCBI Gene PubMed Count',NULL,16682,NULL,NULL,NULL,9,NULL,NULL,NULL),(43936,'NCBI Gene Summary',NULL,16683,NULL,'This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(43937,'NCBI Gene PubMed Count',NULL,16683,NULL,NULL,NULL,18,NULL,NULL,NULL),(43938,'NCBI Gene Summary',NULL,16684,NULL,'This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(43939,'NCBI Gene PubMed Count',NULL,16684,NULL,NULL,NULL,8,NULL,NULL,NULL),(43940,'NCBI Gene PubMed Count',NULL,16685,NULL,NULL,NULL,14,NULL,NULL,NULL),(43941,'NCBI Gene PubMed Count',NULL,16686,NULL,NULL,NULL,9,NULL,NULL,NULL),(43942,'NCBI Gene Summary',NULL,16687,NULL,'This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(43943,'NCBI Gene PubMed Count',NULL,16687,NULL,NULL,NULL,12,NULL,NULL,NULL),(43944,'NCBI Gene Summary',NULL,16688,NULL,'This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular processes, such as synaptic vesicle fusion, protein folding, and protein translocation. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(43945,'NCBI Gene PubMed Count',NULL,16688,NULL,NULL,NULL,15,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (43946,'NCBI Gene PubMed Count',NULL,16689,NULL,NULL,NULL,9,NULL,NULL,NULL),(43947,'NCBI Gene Summary',NULL,16690,NULL,'This gene encodes a member of the T-cell factor/lymphoid enhancer-binding factor family of high mobility group (HMG) box transcriptional activators. This gene is expressed predominantly in T-cells and plays a critical role in natural killer cell and innate lymphoid cell development. The encoded protein forms a complex with beta-catenin and activates transcription through a Wnt/beta-catenin signaling pathway. Mice with a knockout of this gene are viable and fertile, but display a block in T-lymphocyte differentiation. Alternative splicing results in multiple transcript variants. Naturally-occurring isoforms lacking the N-terminal beta-catenin interaction domain may act as dominant negative regulators of Wnt signaling. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(43948,'NCBI Gene PubMed Count',NULL,16690,NULL,NULL,NULL,78,NULL,NULL,NULL),(43949,'NCBI Gene Summary',NULL,16691,NULL,'This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43950,'NCBI Gene PubMed Count',NULL,16691,NULL,NULL,NULL,24,NULL,NULL,NULL),(43951,'NCBI Gene PubMed Count',NULL,16692,NULL,NULL,NULL,4,NULL,NULL,NULL),(43952,'NCBI Gene PubMed Count',NULL,16693,NULL,NULL,NULL,4,NULL,NULL,NULL),(43953,'NCBI Gene PubMed Count',NULL,16694,NULL,NULL,NULL,0,NULL,NULL,NULL),(43954,'NCBI Gene Summary',NULL,16695,NULL,'The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(43955,'NCBI Gene PubMed Count',NULL,16695,NULL,NULL,NULL,20,NULL,NULL,NULL),(43956,'NCBI Gene Summary',NULL,16696,NULL,'There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3\'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(43957,'NCBI Gene PubMed Count',NULL,16696,NULL,NULL,NULL,47,NULL,NULL,NULL),(43958,'NCBI Gene PubMed Count',NULL,16697,NULL,NULL,NULL,7,NULL,NULL,NULL),(43959,'NCBI Gene Summary',NULL,16698,NULL,'The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43960,'NCBI Gene PubMed Count',NULL,16698,NULL,NULL,NULL,25,NULL,NULL,NULL),(43961,'NCBI Gene Summary',NULL,16699,NULL,'This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(43962,'NCBI Gene PubMed Count',NULL,16699,NULL,NULL,NULL,52,NULL,NULL,NULL),(43963,'NCBI Gene Summary',NULL,16700,NULL,'This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has phospho-lyase activity on both gamma and beta phosphorylated substrates. In mouse an alternatively spliced form of this protein has been shown to act as a cytokine and can induce the production of the inflammatory cytokine IL6 in osteoblasts. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(43964,'NCBI Gene PubMed Count',NULL,16700,NULL,NULL,NULL,13,NULL,NULL,NULL),(43965,'NCBI Gene Summary',NULL,16701,NULL,'Coagulation factor II is proteolytically cleaved to form thrombin in the first step of the coagulation cascade which ultimately results in the stemming of blood loss. F2 also plays a role in maintaining vascular integrity during development and postnatal life. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in F2 lead to various forms of thrombosis and dysprothrombinemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(43966,'NCBI Gene PubMed Count',NULL,16701,NULL,NULL,NULL,1366,NULL,NULL,NULL),(43967,'NCBI Gene Summary',NULL,16702,NULL,'This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(43968,'NCBI Gene PubMed Count',NULL,16702,NULL,NULL,NULL,44,NULL,NULL,NULL),(43969,'NCBI Gene PubMed Count',NULL,16703,NULL,NULL,NULL,7,NULL,NULL,NULL),(43970,'NCBI Gene Summary',NULL,16704,NULL,'This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(43971,'NCBI Gene PubMed Count',NULL,16704,NULL,NULL,NULL,36,NULL,NULL,NULL),(43972,'NCBI Gene Summary',NULL,16705,NULL,'This gene encodes a member of a novel family of calcium-binding proteoglycan proteins that contain thyroglobulin type-1 and Kazal-like domains. The encoded protein and may play a role in adult T-cell leukemia by inhibiting the activity of membrane-type matrix metalloproteinases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(43973,'NCBI Gene PubMed Count',NULL,16705,NULL,NULL,NULL,14,NULL,NULL,NULL),(43974,'NCBI Gene Summary',NULL,16706,NULL,'This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(43975,'NCBI Gene PubMed Count',NULL,16706,NULL,NULL,NULL,415,NULL,NULL,NULL),(43976,'NCBI Gene Summary',NULL,16707,NULL,'T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(43977,'NCBI Gene PubMed Count',NULL,16707,NULL,NULL,NULL,2,NULL,NULL,NULL),(43978,'NCBI Gene Summary',NULL,16708,NULL,'This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(43979,'NCBI Gene PubMed Count',NULL,16708,NULL,NULL,NULL,11,NULL,NULL,NULL),(43980,'NCBI Gene PubMed Count',NULL,16709,NULL,NULL,NULL,0,NULL,NULL,NULL),(43981,'NCBI Gene PubMed Count',NULL,16710,NULL,NULL,NULL,1,NULL,NULL,NULL),(43982,'NCBI Gene Summary',NULL,16711,NULL,'This gene is a member of the TIS11 family of early response genes, which are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. This gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(43983,'NCBI Gene PubMed Count',NULL,16711,NULL,NULL,NULL,46,NULL,NULL,NULL),(43984,'NCBI Gene PubMed Count',NULL,16712,NULL,NULL,NULL,5,NULL,NULL,NULL),(43985,'NCBI Gene PubMed Count',NULL,16713,NULL,NULL,NULL,1,NULL,NULL,NULL),(43986,'NCBI Gene PubMed Count',NULL,16714,NULL,NULL,NULL,1,NULL,NULL,NULL),(43987,'NCBI Gene PubMed Count',NULL,16715,NULL,NULL,NULL,3,NULL,NULL,NULL),(43988,'NCBI Gene PubMed Count',NULL,16716,NULL,NULL,NULL,3,NULL,NULL,NULL),(43989,'NCBI Gene PubMed Count',NULL,16717,NULL,NULL,NULL,12,NULL,NULL,NULL),(43990,'NCBI Gene PubMed Count',NULL,16718,NULL,NULL,NULL,5,NULL,NULL,NULL),(43991,'NCBI Gene PubMed Count',NULL,16719,NULL,NULL,NULL,10,NULL,NULL,NULL),(43992,'NCBI Gene Summary',NULL,16720,NULL,'The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(43993,'NCBI Gene PubMed Count',NULL,16720,NULL,NULL,NULL,45,NULL,NULL,NULL),(43994,'NCBI Gene PubMed Count',NULL,16721,NULL,NULL,NULL,16,NULL,NULL,NULL),(43995,'NCBI Gene Summary',NULL,16722,NULL,'The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(43996,'NCBI Gene PubMed Count',NULL,16722,NULL,NULL,NULL,34,NULL,NULL,NULL),(43997,'NCBI Gene Summary',NULL,16723,NULL,'This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(43998,'NCBI Gene PubMed Count',NULL,16723,NULL,NULL,NULL,24,NULL,NULL,NULL),(43999,'NCBI Gene PubMed Count',NULL,16724,NULL,NULL,NULL,9,NULL,NULL,NULL),(44000,'NCBI Gene Summary',NULL,16725,NULL,'This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is predominantly expressed in the testis and in mouse, tektin 1 mRNA was localized to the spermatocytes and round spermatids in the seminiferous tubules, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44001,'NCBI Gene PubMed Count',NULL,16725,NULL,NULL,NULL,13,NULL,NULL,NULL),(44002,'NCBI Gene PubMed Count',NULL,16726,NULL,NULL,NULL,5,NULL,NULL,NULL),(44003,'NCBI Gene PubMed Count',NULL,16727,NULL,NULL,NULL,4,NULL,NULL,NULL),(44004,'NCBI Gene Summary',NULL,16728,NULL,'This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(44005,'NCBI Gene PubMed Count',NULL,16728,NULL,NULL,NULL,9,NULL,NULL,NULL),(44006,'NCBI Gene Summary',NULL,16729,NULL,'Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(44007,'NCBI Gene PubMed Count',NULL,16729,NULL,NULL,NULL,2,NULL,NULL,NULL),(44008,'NCBI Gene PubMed Count',NULL,16730,NULL,NULL,NULL,2,NULL,NULL,NULL),(44009,'NCBI Gene Summary',NULL,16731,NULL,'This gene encodes a member of a family of transcription factors that heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. The encoded protein functions as part of this complex to control the transcriptional activity of numerous genes involved in cell cycle progression from G1 to S phase. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1, 15, and X.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(44010,'NCBI Gene PubMed Count',NULL,16731,NULL,NULL,NULL,56,NULL,NULL,NULL),(44011,'NCBI Gene Summary',NULL,16732,NULL,'This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(44012,'NCBI Gene PubMed Count',NULL,16732,NULL,NULL,NULL,101,NULL,NULL,NULL),(44013,'NCBI Gene Summary',NULL,16733,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(44014,'NCBI Gene PubMed Count',NULL,16733,NULL,NULL,NULL,4042,NULL,NULL,NULL),(44015,'NCBI Gene Summary',NULL,16734,NULL,'This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(44016,'NCBI Gene PubMed Count',NULL,16734,NULL,NULL,NULL,80,NULL,NULL,NULL),(44017,'NCBI Gene Summary',NULL,16735,NULL,'The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44018,'NCBI Gene PubMed Count',NULL,16735,NULL,NULL,NULL,49,NULL,NULL,NULL),(44019,'NCBI Gene Summary',NULL,16736,NULL,'TIFAB associates with TIFA (MIM 609028) and inhibits TIFA-mediated activation of NF-kappa-B (NFKB1; MIM 164011) (Matsumura et al., 2004 [PubMed 15047173]).[supplied by OMIM, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(44020,'NCBI Gene PubMed Count',NULL,16736,NULL,NULL,NULL,5,NULL,NULL,NULL),(44021,'NCBI Gene Summary',NULL,16737,NULL,'This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44022,'NCBI Gene PubMed Count',NULL,16737,NULL,NULL,NULL,61,NULL,NULL,NULL),(44023,'NCBI Gene Summary',NULL,16738,NULL,'This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(44024,'NCBI Gene PubMed Count',NULL,16738,NULL,NULL,NULL,66,NULL,NULL,NULL),(44025,'NCBI Gene PubMed Count',NULL,16739,NULL,NULL,NULL,10,NULL,NULL,NULL),(44026,'NCBI Gene Summary',NULL,16740,NULL,'This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4\',5\'-phosphate (aka cyclin FMN) from FAD. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(44027,'NCBI Gene PubMed Count',NULL,16740,NULL,NULL,NULL,17,NULL,NULL,NULL),(44028,'NCBI Gene Summary',NULL,16741,NULL,'The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44029,'NCBI Gene PubMed Count',NULL,16741,NULL,NULL,NULL,97,NULL,NULL,NULL),(44030,'NCBI Gene Summary',NULL,16742,NULL,'The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(44031,'NCBI Gene PubMed Count',NULL,16742,NULL,NULL,NULL,62,NULL,NULL,NULL),(44032,'NCBI Gene Summary',NULL,16743,NULL,'This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(44033,'NCBI Gene PubMed Count',NULL,16743,NULL,NULL,NULL,8,NULL,NULL,NULL),(44034,'NCBI Gene PubMed Count',NULL,16744,NULL,NULL,NULL,21,NULL,NULL,NULL),(44035,'NCBI Gene Summary',NULL,16745,NULL,'This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer\'s disease, Pick\'s disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44036,'NCBI Gene PubMed Count',NULL,16745,NULL,NULL,NULL,1466,NULL,NULL,NULL),(44037,'NCBI Gene Summary',NULL,16747,NULL,'This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle formation during mitosis. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(44038,'NCBI Gene PubMed Count',NULL,16747,NULL,NULL,NULL,10,NULL,NULL,NULL),(44039,'NCBI Gene Summary',NULL,16748,NULL,'Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. This gene encodes an alpha tubulin that highly conserved among species. A missense mutation in this gene has been potentially linked to microlissencephaly and global developmental delay. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(44040,'NCBI Gene PubMed Count',NULL,16748,NULL,NULL,NULL,8,NULL,NULL,NULL),(44041,'NCBI Gene Summary',NULL,16749,NULL,'This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(44042,'NCBI Gene PubMed Count',NULL,16749,NULL,NULL,NULL,11,NULL,NULL,NULL),(44043,'NCBI Gene PubMed Count',NULL,16750,NULL,NULL,NULL,48,NULL,NULL,NULL),(44044,'NCBI Gene Summary',NULL,16751,NULL,'This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(44045,'NCBI Gene PubMed Count',NULL,16751,NULL,NULL,NULL,14,NULL,NULL,NULL),(44046,'NCBI Gene Summary',NULL,16752,NULL,'The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44047,'NCBI Gene PubMed Count',NULL,16752,NULL,NULL,NULL,13,NULL,NULL,NULL),(44048,'NCBI Gene PubMed Count',NULL,16753,NULL,NULL,NULL,9,NULL,NULL,NULL),(44049,'NCBI Gene PubMed Count',NULL,16754,NULL,NULL,NULL,8,NULL,NULL,NULL),(44050,'NCBI Gene PubMed Count',NULL,16755,NULL,NULL,NULL,2,NULL,NULL,NULL),(44051,'NCBI Gene Summary',NULL,16756,NULL,'The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(44052,'NCBI Gene PubMed Count',NULL,16756,NULL,NULL,NULL,25,NULL,NULL,NULL),(44053,'NCBI Gene Summary',NULL,16757,NULL,'The gene encodes a member of the basic helix-loop-helix transcription factor family. Studies of the orthologous gene in mouse have shown the encoded protein does not bind DNA but may negatively regulate other basic helix-loop-helix factors via the formation of a functionally inactive heterodimeric complex. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(44054,'NCBI Gene PubMed Count',NULL,16757,NULL,NULL,NULL,6,NULL,NULL,NULL),(44055,'NCBI Gene Summary',NULL,16758,NULL,'This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(44056,'NCBI Gene PubMed Count',NULL,16758,NULL,NULL,NULL,19,NULL,NULL,NULL),(44057,'NCBI Gene Summary',NULL,16759,NULL,'Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains. This gene encodes a subunit of the human cytoplasmic dynein-2 complex. Mutations in this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(44058,'NCBI Gene PubMed Count',NULL,16759,NULL,NULL,NULL,9,NULL,NULL,NULL),(44059,'NCBI Gene PubMed Count',NULL,16760,NULL,NULL,NULL,8,NULL,NULL,NULL),(44060,'NCBI Gene Summary',NULL,16761,NULL,'The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44061,'NCBI Gene PubMed Count',NULL,16761,NULL,NULL,NULL,34,NULL,NULL,NULL),(44062,'NCBI Gene PubMed Count',NULL,16762,NULL,NULL,NULL,11,NULL,NULL,NULL),(44063,'NCBI Gene PubMed Count',NULL,16763,NULL,NULL,NULL,11,NULL,NULL,NULL),(44064,'NCBI Gene Summary',NULL,16764,NULL,'This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and is involved in the transactivation of the chorionic somatomammotropin-B gene enhancer. Translation of this protein is initiated at a non-AUG (AUA) start codon. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44065,'NCBI Gene PubMed Count',NULL,16764,NULL,NULL,NULL,20,NULL,NULL,NULL),(44066,'NCBI Gene Summary',NULL,16765,NULL,'This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(44067,'NCBI Gene PubMed Count',NULL,16765,NULL,NULL,NULL,234,NULL,NULL,NULL),(44068,'NCBI Gene Summary',NULL,16766,NULL,'This gene appears to be an evolving pseudogene of L-threonine 3-dehydrogenase (TDH). In both prokaryotes and eukaryotes, TDH catalyzes the first of two steps in one of two L-threonine degradation pathways. However, in human, the single gene with sequence similarity to TDH is not capable of encoding a functional TDH protein; the predicted protein lacks most of the C-terminus and parts of the NAD+ binding motif when compared to other species\' TDH proteins. This suggests that the human gene is therefore a pseudogene. Transcripts of this gene are found in all tissues and alternatively spliced transcripts have been described. It is not known if these transcripts are translated, or if the possible protein product provides any functional role. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44069,'NCBI Gene PubMed Count',NULL,16766,NULL,NULL,NULL,4,NULL,NULL,NULL),(44070,'NCBI Gene Summary',NULL,16767,NULL,'This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. This family is comprised of nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternatively splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 13. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(44071,'NCBI Gene PubMed Count',NULL,16767,NULL,NULL,NULL,16,NULL,NULL,NULL),(44072,'NCBI Gene Summary',NULL,16768,NULL,'This gene encodes an enzyme that converts prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). This protein functions as a co-chaperone with heat shock protein 90 (HSP90), localizing to response elements in DNA and disrupting transcriptional activation complexes. Alternative splicing results in multiple transcript variants. There are multiple pseudogenes of this gene on several different chromosomes. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(44073,'NCBI Gene PubMed Count',NULL,16768,NULL,NULL,NULL,74,NULL,NULL,NULL),(44074,'NCBI Gene PubMed Count',NULL,16769,NULL,NULL,NULL,13,NULL,NULL,NULL),(44075,'NCBI Gene PubMed Count',NULL,16770,NULL,NULL,NULL,36,NULL,NULL,NULL),(44076,'NCBI Gene Summary',NULL,16771,NULL,'The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44077,'NCBI Gene PubMed Count',NULL,16771,NULL,NULL,NULL,27,NULL,NULL,NULL),(44078,'NCBI Gene Summary',NULL,16772,NULL,'The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44079,'NCBI Gene PubMed Count',NULL,16772,NULL,NULL,NULL,20,NULL,NULL,NULL),(44080,'NCBI Gene Summary',NULL,16773,NULL,'This gene encodes a component of the nuclear THO transcription elongation complex, which is part of the larger transcription export (TREX) complex that couples messenger RNA processing and export. In humans, the transcription export complex is recruited to the 5\'-end of messenger RNAs in a splicing- and cap-dependent manner. Studies of a related complex in mouse suggest that the metazoan transcription export complex is involved in cell differentiation and development. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(44081,'NCBI Gene PubMed Count',NULL,16773,NULL,NULL,NULL,11,NULL,NULL,NULL),(44082,'NCBI Gene PubMed Count',NULL,16774,NULL,NULL,NULL,23,NULL,NULL,NULL),(44083,'NCBI Gene PubMed Count',NULL,16775,NULL,NULL,NULL,10,NULL,NULL,NULL),(44084,'NCBI Gene Summary',NULL,16776,NULL,'Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(44085,'NCBI Gene PubMed Count',NULL,16776,NULL,NULL,NULL,173,NULL,NULL,NULL),(44086,'NCBI Gene Summary',NULL,16777,NULL,'This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44087,'NCBI Gene PubMed Count',NULL,16777,NULL,NULL,NULL,15,NULL,NULL,NULL),(44088,'NCBI Gene Summary',NULL,16778,NULL,'This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(44089,'NCBI Gene PubMed Count',NULL,16778,NULL,NULL,NULL,18,NULL,NULL,NULL),(44090,'NCBI Gene Summary',NULL,16779,NULL,'Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(44091,'NCBI Gene PubMed Count',NULL,16779,NULL,NULL,NULL,19,NULL,NULL,NULL),(44092,'NCBI Gene Summary',NULL,16780,NULL,'Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 25-42, and expansion of the number of repeats to 45-66 increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(44093,'NCBI Gene PubMed Count',NULL,16780,NULL,NULL,NULL,262,NULL,NULL,NULL),(44094,'NCBI Gene Summary',NULL,16781,NULL,'This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(44095,'NCBI Gene PubMed Count',NULL,16781,NULL,NULL,NULL,63,NULL,NULL,NULL),(44096,'NCBI Gene PubMed Count',NULL,16782,NULL,NULL,NULL,56,NULL,NULL,NULL),(44097,'NCBI Gene Summary',NULL,16783,NULL,'This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44098,'NCBI Gene PubMed Count',NULL,16783,NULL,NULL,NULL,12,NULL,NULL,NULL),(44099,'NCBI Gene Summary',NULL,16784,NULL,'This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(44100,'NCBI Gene PubMed Count',NULL,16784,NULL,NULL,NULL,46,NULL,NULL,NULL),(44101,'NCBI Gene PubMed Count',NULL,16785,NULL,NULL,NULL,20,NULL,NULL,NULL),(44102,'NCBI Gene Summary',NULL,16786,NULL,'This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(44103,'NCBI Gene PubMed Count',NULL,16786,NULL,NULL,NULL,14,NULL,NULL,NULL),(44104,'NCBI Gene Summary',NULL,16787,NULL,'This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5\' and 3\' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44105,'NCBI Gene PubMed Count',NULL,16787,NULL,NULL,NULL,86,NULL,NULL,NULL),(44106,'NCBI Gene Summary',NULL,16788,NULL,'This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(44107,'NCBI Gene PubMed Count',NULL,16788,NULL,NULL,NULL,36,NULL,NULL,NULL),(44108,'NCBI Gene PubMed Count',NULL,16789,NULL,NULL,NULL,81,NULL,NULL,NULL),(44109,'NCBI Gene Summary',NULL,16790,NULL,'This gene encodes a growth factor that is a ligand for the epidermal growth factor receptor, which activates a signaling pathway for cell proliferation, differentiation and development. This protein may act as either a transmembrane-bound ligand or a soluble ligand. This gene has been associated with many types of cancers, and it may also be involved in some cases of cleft lip/palate. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(44110,'NCBI Gene PubMed Count',NULL,16790,NULL,NULL,NULL,218,NULL,NULL,NULL),(44111,'NCBI Gene Summary',NULL,16791,NULL,'This gene encodes a type I integral membrane protein that is localized to the trans-Golgi network, a major sorting station for secretory and membrane proteins. The encoded protein cycles between early endosomes and the trans-Golgi network, and may play a role in exocytic vesicle formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(44112,'NCBI Gene PubMed Count',NULL,16791,NULL,NULL,NULL,28,NULL,NULL,NULL),(44113,'NCBI Gene Summary',NULL,16792,NULL,'This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(44114,'NCBI Gene PubMed Count',NULL,16792,NULL,NULL,NULL,84,NULL,NULL,NULL),(44115,'NCBI Gene Summary',NULL,16793,NULL,'The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(44116,'NCBI Gene PubMed Count',NULL,16793,NULL,NULL,NULL,83,NULL,NULL,NULL),(44117,'NCBI Gene PubMed Count',NULL,16794,NULL,NULL,NULL,7,NULL,NULL,NULL),(44118,'NCBI Gene PubMed Count',NULL,16795,NULL,NULL,NULL,18,NULL,NULL,NULL),(44119,'NCBI Gene Summary',NULL,16796,NULL,'This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(44120,'NCBI Gene PubMed Count',NULL,16796,NULL,NULL,NULL,13,NULL,NULL,NULL),(44121,'NCBI Gene PubMed Count',NULL,16797,NULL,NULL,NULL,17,NULL,NULL,NULL),(44122,'NCBI Gene PubMed Count',NULL,16798,NULL,NULL,NULL,6,NULL,NULL,NULL),(44123,'NCBI Gene Summary',NULL,16799,NULL,'The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms has been found for this gene. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(44124,'NCBI Gene PubMed Count',NULL,16799,NULL,NULL,NULL,84,NULL,NULL,NULL),(44125,'NCBI Gene PubMed Count',NULL,16800,NULL,NULL,NULL,12,NULL,NULL,NULL),(44126,'NCBI Gene Summary',NULL,16801,NULL,'The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44127,'NCBI Gene PubMed Count',NULL,16801,NULL,NULL,NULL,161,NULL,NULL,NULL),(44128,'NCBI Gene Summary',NULL,16802,NULL,'The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(44129,'NCBI Gene PubMed Count',NULL,16802,NULL,NULL,NULL,8,NULL,NULL,NULL),(44130,'NCBI Gene Summary',NULL,16803,NULL,'This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44131,'NCBI Gene PubMed Count',NULL,16803,NULL,NULL,NULL,31,NULL,NULL,NULL),(44132,'NCBI Gene PubMed Count',NULL,16804,NULL,NULL,NULL,2,NULL,NULL,NULL),(44133,'NCBI Gene PubMed Count',NULL,16805,NULL,NULL,NULL,10,NULL,NULL,NULL),(44134,'NCBI Gene Summary',NULL,16806,NULL,'The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(44135,'NCBI Gene PubMed Count',NULL,16806,NULL,NULL,NULL,37,NULL,NULL,NULL),(44136,'NCBI Gene Summary',NULL,16807,NULL,'This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(44137,'NCBI Gene PubMed Count',NULL,16807,NULL,NULL,NULL,20,NULL,NULL,NULL),(44138,'NCBI Gene PubMed Count',NULL,16808,NULL,NULL,NULL,24,NULL,NULL,NULL),(44139,'NCBI Gene Summary',NULL,16809,NULL,'HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(44140,'NCBI Gene PubMed Count',NULL,16809,NULL,NULL,NULL,19,NULL,NULL,NULL),(44141,'NCBI Gene PubMed Count',NULL,16810,NULL,NULL,NULL,115,NULL,NULL,NULL),(44142,'NCBI Gene Summary',NULL,16811,NULL,'The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(44143,'NCBI Gene PubMed Count',NULL,16811,NULL,NULL,NULL,4,NULL,NULL,NULL),(44144,'NCBI Gene PubMed Count',NULL,16812,NULL,NULL,NULL,21,NULL,NULL,NULL),(44145,'NCBI Gene Summary',NULL,16813,NULL,'This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(44146,'NCBI Gene PubMed Count',NULL,16813,NULL,NULL,NULL,51,NULL,NULL,NULL),(44147,'NCBI Gene Summary',NULL,16814,NULL,'This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(44148,'NCBI Gene PubMed Count',NULL,16814,NULL,NULL,NULL,9,NULL,NULL,NULL),(44149,'NCBI Gene Summary',NULL,16815,NULL,'This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44150,'NCBI Gene PubMed Count',NULL,16815,NULL,NULL,NULL,2,NULL,NULL,NULL),(44151,'NCBI Gene Summary',NULL,16816,NULL,'The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(44152,'NCBI Gene PubMed Count',NULL,16816,NULL,NULL,NULL,39,NULL,NULL,NULL),(44153,'NCBI Gene PubMed Count',NULL,16817,NULL,NULL,NULL,6,NULL,NULL,NULL),(44154,'NCBI Gene Summary',NULL,16818,NULL,'Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(44155,'NCBI Gene PubMed Count',NULL,16818,NULL,NULL,NULL,12,NULL,NULL,NULL),(44156,'NCBI Gene Summary',NULL,16819,NULL,'The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as \'happy puppet syndrome\'. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44157,'NCBI Gene PubMed Count',NULL,16819,NULL,NULL,NULL,24,NULL,NULL,NULL),(44158,'NCBI Gene PubMed Count',NULL,16820,NULL,NULL,NULL,14,NULL,NULL,NULL),(44159,'NCBI Gene Summary',NULL,16821,NULL,'The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44160,'NCBI Gene PubMed Count',NULL,16821,NULL,NULL,NULL,25,NULL,NULL,NULL),(44161,'NCBI Gene Summary',NULL,16822,NULL,'This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(44162,'NCBI Gene PubMed Count',NULL,16822,NULL,NULL,NULL,25,NULL,NULL,NULL),(44163,'NCBI Gene Summary',NULL,16823,NULL,'This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(44164,'NCBI Gene PubMed Count',NULL,16823,NULL,NULL,NULL,48,NULL,NULL,NULL),(44165,'NCBI Gene Summary',NULL,16824,NULL,'This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(44166,'NCBI Gene PubMed Count',NULL,16824,NULL,NULL,NULL,180,NULL,NULL,NULL),(44167,'NCBI Gene Summary',NULL,16825,NULL,'This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(44168,'NCBI Gene PubMed Count',NULL,16825,NULL,NULL,NULL,14,NULL,NULL,NULL),(44169,'NCBI Gene Summary',NULL,16826,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44170,'NCBI Gene PubMed Count',NULL,16826,NULL,NULL,NULL,20,NULL,NULL,NULL),(44171,'NCBI Gene Summary',NULL,16827,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and is clustered with CLDN8 on chromosome 21q22.11. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44172,'NCBI Gene PubMed Count',NULL,16827,NULL,NULL,NULL,19,NULL,NULL,NULL),(44173,'NCBI Gene Summary',NULL,16828,NULL,'Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44174,'NCBI Gene PubMed Count',NULL,16828,NULL,NULL,NULL,215,NULL,NULL,NULL),(44175,'NCBI Gene PubMed Count',NULL,16829,NULL,NULL,NULL,5,NULL,NULL,NULL),(44176,'NCBI Gene Summary',NULL,16830,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44177,'NCBI Gene PubMed Count',NULL,16830,NULL,NULL,NULL,4,NULL,NULL,NULL),(44178,'NCBI Gene PubMed Count',NULL,16831,NULL,NULL,NULL,8,NULL,NULL,NULL),(44179,'NCBI Gene Summary',NULL,16832,NULL,'The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with a syndrome (CAMRQ4) characterized by cerebellar ataxia and cognitive disabilities. In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(44180,'NCBI Gene PubMed Count',NULL,16832,NULL,NULL,NULL,19,NULL,NULL,NULL),(44181,'NCBI Gene Summary',NULL,16833,NULL,'The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(44182,'NCBI Gene PubMed Count',NULL,16833,NULL,NULL,NULL,140,NULL,NULL,NULL),(44183,'NCBI Gene Summary',NULL,16834,NULL,'The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44184,'NCBI Gene PubMed Count',NULL,16834,NULL,NULL,NULL,15,NULL,NULL,NULL),(44185,'NCBI Gene Summary',NULL,16835,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Differential expression of this gene has been observed in different types of malignancies, including breast cancer, ovarian cancer, hepatocellular carcinomas, urinary tumors, prostate cancer, lung cancer, head and neck cancers, thyroid carcinomas, etc.. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(44186,'NCBI Gene PubMed Count',NULL,16835,NULL,NULL,NULL,102,NULL,NULL,NULL),(44187,'NCBI Gene Summary',NULL,16836,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein is one of the entry cofactors for hepatitis C virus. Mouse studies revealed that this gene is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44188,'NCBI Gene PubMed Count',NULL,16836,NULL,NULL,NULL,27,NULL,NULL,NULL),(44189,'NCBI Gene PubMed Count',NULL,16837,NULL,NULL,NULL,15,NULL,NULL,NULL),(44190,'NCBI Gene PubMed Count',NULL,16838,NULL,NULL,NULL,3,NULL,NULL,NULL),(44191,'NCBI Gene PubMed Count',NULL,16839,NULL,NULL,NULL,58,NULL,NULL,NULL),(44192,'NCBI Gene Summary',NULL,16840,NULL,'Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44193,'NCBI Gene PubMed Count',NULL,16840,NULL,NULL,NULL,27,NULL,NULL,NULL),(44194,'NCBI Gene Summary',NULL,16841,NULL,'This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(44195,'NCBI Gene PubMed Count',NULL,16841,NULL,NULL,NULL,14,NULL,NULL,NULL),(44196,'NCBI Gene Summary',NULL,16842,NULL,'This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(44197,'NCBI Gene PubMed Count',NULL,16842,NULL,NULL,NULL,29,NULL,NULL,NULL),(44198,'NCBI Gene PubMed Count',NULL,16843,NULL,NULL,NULL,6,NULL,NULL,NULL),(44199,'NCBI Gene Summary',NULL,16844,NULL,'Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(44200,'NCBI Gene PubMed Count',NULL,16844,NULL,NULL,NULL,21,NULL,NULL,NULL),(44201,'NCBI Gene Summary',NULL,16845,NULL,'Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44202,'NCBI Gene PubMed Count',NULL,16845,NULL,NULL,NULL,47,NULL,NULL,NULL),(44203,'NCBI Gene Summary',NULL,16846,NULL,'Expression of this gene has been shown to be upregulated in some individuals with chronic lymphocytic leukemia (CLL), and has been used for prognostic and diagnostic purposes. This gene was originally identified as a human-specific putative protein-coding gene due to the presence of a peptide (PAp00140670, HIIYSTFLSK) that could have supported translation at this locus. This peptide is not present in more recent builds of PeptideAtlas, and the presence of a protein product at this locus has not been independently verified. For this reason, this gene is being represented as non-coding. Sequence comparisons to other primates indicates that no other primate is predicted to contain an open reading frame. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(44204,'NCBI Gene PubMed Count',NULL,16846,NULL,NULL,NULL,21,NULL,NULL,NULL),(44205,'NCBI Gene Summary',NULL,16847,NULL,'Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44206,'NCBI Gene PubMed Count',NULL,16847,NULL,NULL,NULL,12,NULL,NULL,NULL),(44207,'NCBI Gene Summary',NULL,16848,NULL,'The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(44208,'NCBI Gene PubMed Count',NULL,16848,NULL,NULL,NULL,133,NULL,NULL,NULL),(44209,'NCBI Gene PubMed Count',NULL,16849,NULL,NULL,NULL,6,NULL,NULL,NULL),(44210,'NCBI Gene Summary',NULL,16850,NULL,'CD300LB is a nonclassical activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells (Martinez-Barriocanal and Sayos, 2006 [PubMed 16920917]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44211,'NCBI Gene PubMed Count',NULL,16850,NULL,NULL,NULL,12,NULL,NULL,NULL),(44212,'NCBI Gene Summary',NULL,16851,NULL,'Members of the CD300 (see MIM 606786)-like (CD300L) family, such as CD300LG, are widely expressed on hematopoietic cells. All CD300L proteins are type I cell surface glycoproteins that contain a single immunoglobulin (Ig) V-like domain (Takatsu et al., 2006 [PubMed 16876123]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44213,'NCBI Gene PubMed Count',NULL,16851,NULL,NULL,NULL,12,NULL,NULL,NULL),(44214,'NCBI Gene Summary',NULL,16852,NULL,'This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(44215,'NCBI Gene PubMed Count',NULL,16852,NULL,NULL,NULL,35,NULL,NULL,NULL),(44216,'NCBI Gene Summary',NULL,16853,NULL,'This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(44217,'NCBI Gene PubMed Count',NULL,16853,NULL,NULL,NULL,39,NULL,NULL,NULL),(44218,'NCBI Gene Summary',NULL,16854,NULL,'MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44219,'NCBI Gene PubMed Count',NULL,16854,NULL,NULL,NULL,13,NULL,NULL,NULL),(44220,'NCBI Gene PubMed Count',NULL,16855,NULL,NULL,NULL,13,NULL,NULL,NULL),(44221,'NCBI Gene Summary',NULL,16856,NULL,'The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with ARNTL (BMAL1) that binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(44222,'NCBI Gene PubMed Count',NULL,16856,NULL,NULL,NULL,221,NULL,NULL,NULL),(44223,'NCBI Gene Summary',NULL,16857,NULL,'This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(44224,'NCBI Gene PubMed Count',NULL,16857,NULL,NULL,NULL,12,NULL,NULL,NULL),(44225,'NCBI Gene PubMed Count',NULL,16858,NULL,NULL,NULL,24,NULL,NULL,NULL),(44226,'NCBI Gene Summary',NULL,16859,NULL,'This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(44227,'NCBI Gene PubMed Count',NULL,16859,NULL,NULL,NULL,14,NULL,NULL,NULL),(44228,'NCBI Gene PubMed Count',NULL,16860,NULL,NULL,NULL,19,NULL,NULL,NULL),(44229,'NCBI Gene Summary',NULL,16861,NULL,'The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44230,'NCBI Gene PubMed Count',NULL,16861,NULL,NULL,NULL,1095,NULL,NULL,NULL),(44231,'NCBI Gene Summary',NULL,16862,NULL,'Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(44232,'NCBI Gene PubMed Count',NULL,16862,NULL,NULL,NULL,68,NULL,NULL,NULL),(44233,'NCBI Gene Summary',NULL,16863,NULL,'This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(44234,'NCBI Gene PubMed Count',NULL,16863,NULL,NULL,NULL,35,NULL,NULL,NULL),(44235,'NCBI Gene PubMed Count',NULL,16864,NULL,NULL,NULL,17,NULL,NULL,NULL),(44236,'NCBI Gene Summary',NULL,16865,NULL,'This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44237,'NCBI Gene PubMed Count',NULL,16865,NULL,NULL,NULL,69,NULL,NULL,NULL),(44238,'NCBI Gene Summary',NULL,16866,NULL,'Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44239,'NCBI Gene PubMed Count',NULL,16866,NULL,NULL,NULL,18,NULL,NULL,NULL),(44240,'NCBI Gene Summary',NULL,16867,NULL,'Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(44241,'NCBI Gene PubMed Count',NULL,16867,NULL,NULL,NULL,39,NULL,NULL,NULL),(44242,'NCBI Gene Summary',NULL,16868,NULL,'Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44243,'NCBI Gene PubMed Count',NULL,16868,NULL,NULL,NULL,23,NULL,NULL,NULL),(44244,'NCBI Gene Summary',NULL,16869,NULL,'This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(44245,'NCBI Gene PubMed Count',NULL,16869,NULL,NULL,NULL,21,NULL,NULL,NULL),(44246,'NCBI Gene Summary',NULL,16870,NULL,'This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44247,'NCBI Gene PubMed Count',NULL,16870,NULL,NULL,NULL,16,NULL,NULL,NULL),(44248,'NCBI Gene Summary',NULL,16871,NULL,'This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44249,'NCBI Gene PubMed Count',NULL,16871,NULL,NULL,NULL,292,NULL,NULL,NULL),(44250,'NCBI Gene PubMed Count',NULL,16872,NULL,NULL,NULL,13,NULL,NULL,NULL),(44251,'NCBI Gene Summary',NULL,16873,NULL,'Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44252,'NCBI Gene PubMed Count',NULL,16873,NULL,NULL,NULL,49,NULL,NULL,NULL),(44253,'NCBI Gene Summary',NULL,16874,NULL,'This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(44254,'NCBI Gene PubMed Count',NULL,16874,NULL,NULL,NULL,165,NULL,NULL,NULL),(44255,'NCBI Gene Summary',NULL,16875,NULL,'This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(44256,'NCBI Gene PubMed Count',NULL,16875,NULL,NULL,NULL,178,NULL,NULL,NULL),(44257,'NCBI Gene Summary',NULL,16876,NULL,'The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(44258,'NCBI Gene PubMed Count',NULL,16876,NULL,NULL,NULL,93,NULL,NULL,NULL),(44259,'NCBI Gene Summary',NULL,16877,NULL,'This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(44260,'NCBI Gene PubMed Count',NULL,16877,NULL,NULL,NULL,2150,NULL,NULL,NULL),(44261,'NCBI Gene Summary',NULL,16878,NULL,'This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44262,'NCBI Gene PubMed Count',NULL,16878,NULL,NULL,NULL,5,NULL,NULL,NULL),(44263,'NCBI Gene Summary',NULL,16879,NULL,'This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44264,'NCBI Gene PubMed Count',NULL,16879,NULL,NULL,NULL,22,NULL,NULL,NULL),(44265,'NCBI Gene PubMed Count',NULL,16880,NULL,NULL,NULL,18,NULL,NULL,NULL),(44266,'NCBI Gene PubMed Count',NULL,16881,NULL,NULL,NULL,6,NULL,NULL,NULL),(44267,'NCBI Gene Summary',NULL,16882,NULL,'The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44268,'NCBI Gene PubMed Count',NULL,16882,NULL,NULL,NULL,51,NULL,NULL,NULL),(44269,'NCBI Gene Summary',NULL,16883,NULL,'The protein encoded by this gene is a type II membrane receptor with an extracellular C-type lectin-like domain fold. The extracellular portion binds structures with a high mannose content and has been shown to recognize several pathogens, including C. elegans, S. cerevisiae, M. tuberculosis, C. neoformans, and house dust mite. When stimulated, the encoded protein initiates signalling through the CARD9-Bcl10-Malt1 pathway, leading to the induction of cytokines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(44270,'NCBI Gene PubMed Count',NULL,16883,NULL,NULL,NULL,22,NULL,NULL,NULL),(44271,'NCBI Gene PubMed Count',NULL,16884,NULL,NULL,NULL,5,NULL,NULL,NULL),(44272,'NCBI Gene Summary',NULL,16885,NULL,'This gene encodes a member of the calcium-activated chloride channel regulator (CLCR) family of proteins. Members of this family regulate the transport of chloride across the plasma membrane. The encoded protein is autoproteolytically processed to generate N- and C- terminal fragments. Expression of this gene is upregulated by the tumor suppressor protein p53 in response to DNA damage. In breast cancer, expression of this gene is downregulated and the encoded protein may inhibit migration and invasion while promoting mesenchymal-to-epithelial transition in cancer cell lines. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(44273,'NCBI Gene PubMed Count',NULL,16885,NULL,NULL,NULL,31,NULL,NULL,NULL),(44274,'NCBI Gene Summary',NULL,16886,NULL,'Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(44275,'NCBI Gene PubMed Count',NULL,16886,NULL,NULL,NULL,39,NULL,NULL,NULL),(44276,'NCBI Gene PubMed Count',NULL,16887,NULL,NULL,NULL,5,NULL,NULL,NULL),(44277,'NCBI Gene Summary',NULL,16888,NULL,'This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(44278,'NCBI Gene PubMed Count',NULL,16888,NULL,NULL,NULL,127,NULL,NULL,NULL),(44279,'NCBI Gene Summary',NULL,16889,NULL,'The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(44280,'NCBI Gene PubMed Count',NULL,16889,NULL,NULL,NULL,42,NULL,NULL,NULL),(44281,'NCBI Gene Summary',NULL,16890,NULL,'The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(44282,'NCBI Gene PubMed Count',NULL,16890,NULL,NULL,NULL,53,NULL,NULL,NULL),(44283,'NCBI Gene Summary',NULL,16891,NULL,'The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(44284,'NCBI Gene PubMed Count',NULL,16891,NULL,NULL,NULL,120,NULL,NULL,NULL),(44285,'NCBI Gene Summary',NULL,16892,NULL,'This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(44286,'NCBI Gene PubMed Count',NULL,16892,NULL,NULL,NULL,54,NULL,NULL,NULL),(44287,'NCBI Gene Summary',NULL,16893,NULL,'This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44288,'NCBI Gene PubMed Count',NULL,16893,NULL,NULL,NULL,63,NULL,NULL,NULL),(44289,'NCBI Gene PubMed Count',NULL,16894,NULL,NULL,NULL,3,NULL,NULL,NULL),(44290,'NCBI Gene Summary',NULL,16895,NULL,'This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44291,'NCBI Gene PubMed Count',NULL,16895,NULL,NULL,NULL,30,NULL,NULL,NULL),(44292,'NCBI Gene Summary',NULL,16896,NULL,'This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(44293,'NCBI Gene PubMed Count',NULL,16896,NULL,NULL,NULL,29,NULL,NULL,NULL),(44294,'NCBI Gene Summary',NULL,16897,NULL,'The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44295,'NCBI Gene PubMed Count',NULL,16897,NULL,NULL,NULL,54,NULL,NULL,NULL),(44296,'NCBI Gene Summary',NULL,16898,NULL,'The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44297,'NCBI Gene PubMed Count',NULL,16898,NULL,NULL,NULL,82,NULL,NULL,NULL),(44298,'NCBI Gene Summary',NULL,16899,NULL,'This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. This gene has multiple pseudogenes. [provided by RefSeq, Jan 2018]',NULL,NULL,NULL,NULL,NULL),(44299,'NCBI Gene PubMed Count',NULL,16899,NULL,NULL,NULL,20,NULL,NULL,NULL),(44300,'NCBI Gene Summary',NULL,16900,NULL,'The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44301,'NCBI Gene PubMed Count',NULL,16900,NULL,NULL,NULL,93,NULL,NULL,NULL),(44302,'NCBI Gene Summary',NULL,16901,NULL,'The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44303,'NCBI Gene PubMed Count',NULL,16901,NULL,NULL,NULL,23,NULL,NULL,NULL),(44304,'NCBI Gene Summary',NULL,16902,NULL,'The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44305,'NCBI Gene PubMed Count',NULL,16902,NULL,NULL,NULL,86,NULL,NULL,NULL),(44306,'NCBI Gene Summary',NULL,16903,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and overlaps the 3\' UTR of the WWC2 gene (GeneID: 80014) on the opposite strand. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44307,'NCBI Gene PubMed Count',NULL,16903,NULL,NULL,NULL,10,NULL,NULL,NULL),(44308,'NCBI Gene Summary',NULL,16904,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is 75% identical to the mouse homolog. This gene is upstream of the CLDN22 gene, which overlaps the WWC2 gene on the opposite strand in the genome.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44309,'NCBI Gene PubMed Count',NULL,16904,NULL,NULL,NULL,9,NULL,NULL,NULL),(44310,'NCBI Gene Summary',NULL,16905,NULL,'The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44311,'NCBI Gene PubMed Count',NULL,16905,NULL,NULL,NULL,25,NULL,NULL,NULL),(44312,'NCBI Gene Summary',NULL,16906,NULL,'Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this intronless gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares aa sequence similarity with a putative apoptosis-related protein found in rat. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44313,'NCBI Gene PubMed Count',NULL,16906,NULL,NULL,NULL,95,NULL,NULL,NULL),(44314,'NCBI Gene Summary',NULL,16907,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(44315,'NCBI Gene PubMed Count',NULL,16907,NULL,NULL,NULL,98,NULL,NULL,NULL),(44316,'NCBI Gene Summary',NULL,16908,NULL,'Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. This gene encodes a component of tight junction strands, which is a member of the claudin family. The protein is an integral membrane protein and is one of the entry cofactors for hepatitis C virus. The gene methylation may be involved in esophageal tumorigenesis. This gene is adjacent to another family member CLDN9 on chromosome 16.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44317,'NCBI Gene PubMed Count',NULL,16908,NULL,NULL,NULL,58,NULL,NULL,NULL),(44318,'NCBI Gene Summary',NULL,16909,NULL,'This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes. [provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(44319,'NCBI Gene PubMed Count',NULL,16909,NULL,NULL,NULL,200,NULL,NULL,NULL),(44320,'NCBI Gene Summary',NULL,16910,NULL,'This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(44321,'NCBI Gene PubMed Count',NULL,16910,NULL,NULL,NULL,30,NULL,NULL,NULL),(44322,'NCBI Gene Summary',NULL,16911,NULL,'The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(44323,'NCBI Gene PubMed Count',NULL,16911,NULL,NULL,NULL,64,NULL,NULL,NULL),(44324,'NCBI Gene Summary',NULL,16912,NULL,'The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44325,'NCBI Gene PubMed Count',NULL,16912,NULL,NULL,NULL,19,NULL,NULL,NULL),(44326,'NCBI Gene Summary',NULL,16913,NULL,'This gene encodes a member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein glycine-rich domain and mediate the interaction of microtubules with cellular organelles. The encoded protein plays a role in T cell apoptosis by facilitating the association of tubulin and the lipid raft ganglioside GD3. The encoded protein also functions as a scaffold protein mediating membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(44327,'NCBI Gene PubMed Count',NULL,16913,NULL,NULL,NULL,13,NULL,NULL,NULL),(44328,'NCBI Gene Summary',NULL,16914,NULL,'This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(44329,'NCBI Gene PubMed Count',NULL,16914,NULL,NULL,NULL,31,NULL,NULL,NULL),(44330,'NCBI Gene Summary',NULL,16915,NULL,'This gene encodes a protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44331,'NCBI Gene PubMed Count',NULL,16915,NULL,NULL,NULL,26,NULL,NULL,NULL),(44332,'NCBI Gene Summary',NULL,16916,NULL,'This gene encodes a member of the CD300 protein family. Members of this family are cell surface glycoproteins with a single IgV-like extracellular domain, and are involved in the regulation of immune response. The encoded protein is an inhibitory receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(44333,'NCBI Gene PubMed Count',NULL,16916,NULL,NULL,NULL,25,NULL,NULL,NULL),(44334,'NCBI Gene Summary',NULL,16917,NULL,'Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(44335,'NCBI Gene PubMed Count',NULL,16917,NULL,NULL,NULL,12,NULL,NULL,NULL),(44336,'NCBI Gene Summary',NULL,16918,NULL,'This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(44337,'NCBI Gene PubMed Count',NULL,16918,NULL,NULL,NULL,21,NULL,NULL,NULL),(44338,'NCBI Gene Summary',NULL,16919,NULL,'This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3\' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(44339,'NCBI Gene PubMed Count',NULL,16919,NULL,NULL,NULL,24,NULL,NULL,NULL),(44340,'NCBI Gene PubMed Count',NULL,16920,NULL,NULL,NULL,43,NULL,NULL,NULL),(44341,'NCBI Gene Summary',NULL,16921,NULL,'This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44342,'NCBI Gene PubMed Count',NULL,16921,NULL,NULL,NULL,46,NULL,NULL,NULL),(44343,'NCBI Gene Summary',NULL,16922,NULL,'The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast cancers. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(44344,'NCBI Gene PubMed Count',NULL,16922,NULL,NULL,NULL,85,NULL,NULL,NULL),(44345,'NCBI Gene PubMed Count',NULL,16923,NULL,NULL,NULL,10,NULL,NULL,NULL),(44346,'NCBI Gene Summary',NULL,16924,NULL,'This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(44347,'NCBI Gene PubMed Count',NULL,16924,NULL,NULL,NULL,14,NULL,NULL,NULL),(44348,'NCBI Gene Summary',NULL,16925,NULL,'The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44349,'NCBI Gene PubMed Count',NULL,16925,NULL,NULL,NULL,81,NULL,NULL,NULL),(44350,'NCBI Gene PubMed Count',NULL,16926,NULL,NULL,NULL,13,NULL,NULL,NULL),(44351,'NCBI Gene Summary',NULL,16927,NULL,'This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(44352,'NCBI Gene PubMed Count',NULL,16927,NULL,NULL,NULL,21,NULL,NULL,NULL),(44353,'NCBI Gene Summary',NULL,16928,NULL,'This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44354,'NCBI Gene PubMed Count',NULL,16928,NULL,NULL,NULL,51,NULL,NULL,NULL),(44355,'NCBI Gene Summary',NULL,16929,NULL,'The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and higher expression of the encoded protein increases the efficiency of DSB. In addition, comparison to orthologous proteins strongly suggests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(44356,'NCBI Gene PubMed Count',NULL,16929,NULL,NULL,NULL,7,NULL,NULL,NULL),(44357,'NCBI Gene Summary',NULL,16930,NULL,'Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44358,'NCBI Gene PubMed Count',NULL,16930,NULL,NULL,NULL,24,NULL,NULL,NULL),(44359,'NCBI Gene Summary',NULL,16931,NULL,'This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(44360,'NCBI Gene PubMed Count',NULL,16931,NULL,NULL,NULL,159,NULL,NULL,NULL),(44361,'NCBI Gene Summary',NULL,16932,NULL,'The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric rings of the CLPP catalytic subunit sandwiched between two hexameric rings of the chaperone subunit encoded by this gene. Targeted proteins are unwound by this protein and then passed on to the CLPP subunit for degradation. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(44362,'NCBI Gene PubMed Count',NULL,16932,NULL,NULL,NULL,20,NULL,NULL,NULL),(44363,'NCBI Gene Summary',NULL,16933,NULL,'The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer\'s disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(44364,'NCBI Gene PubMed Count',NULL,16933,NULL,NULL,NULL,16,NULL,NULL,NULL),(44365,'NCBI Gene Summary',NULL,16934,NULL,'This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(44366,'NCBI Gene PubMed Count',NULL,16934,NULL,NULL,NULL,117,NULL,NULL,NULL),(44367,'NCBI Gene Summary',NULL,16935,NULL,'A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(44368,'NCBI Gene PubMed Count',NULL,16935,NULL,NULL,NULL,33,NULL,NULL,NULL),(44369,'NCBI Gene Summary',NULL,16936,NULL,'The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer\'s disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(44370,'NCBI Gene PubMed Count',NULL,16936,NULL,NULL,NULL,24,NULL,NULL,NULL),(44371,'NCBI Gene Summary',NULL,16937,NULL,'The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(44372,'NCBI Gene PubMed Count',NULL,16937,NULL,NULL,NULL,4210,NULL,NULL,NULL),(44373,'NCBI Gene PubMed Count',NULL,16938,NULL,NULL,NULL,3,NULL,NULL,NULL),(44374,'NCBI Gene Summary',NULL,16939,NULL,'This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(44375,'NCBI Gene PubMed Count',NULL,16939,NULL,NULL,NULL,30,NULL,NULL,NULL),(44376,'NCBI Gene Summary',NULL,16940,NULL,'Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(44377,'NCBI Gene PubMed Count',NULL,16940,NULL,NULL,NULL,9,NULL,NULL,NULL),(44378,'NCBI Gene Summary',NULL,16941,NULL,'This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(44379,'NCBI Gene PubMed Count',NULL,16941,NULL,NULL,NULL,17,NULL,NULL,NULL),(44380,'NCBI Gene Summary',NULL,16942,NULL,'The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(44381,'NCBI Gene PubMed Count',NULL,16942,NULL,NULL,NULL,41,NULL,NULL,NULL),(44382,'NCBI Gene Summary',NULL,16943,NULL,'Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44383,'NCBI Gene PubMed Count',NULL,16943,NULL,NULL,NULL,32,NULL,NULL,NULL),(44384,'NCBI Gene Summary',NULL,16944,NULL,'Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(44385,'NCBI Gene PubMed Count',NULL,16944,NULL,NULL,NULL,14,NULL,NULL,NULL),(44386,'NCBI Gene Summary',NULL,16945,NULL,'This gene encodes a member of the arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(44387,'NCBI Gene PubMed Count',NULL,16945,NULL,NULL,NULL,28,NULL,NULL,NULL),(44388,'NCBI Gene Summary',NULL,16946,NULL,'This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer\'s disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(44389,'NCBI Gene PubMed Count',NULL,16946,NULL,NULL,NULL,70,NULL,NULL,NULL),(44390,'NCBI Gene PubMed Count',NULL,16947,NULL,NULL,NULL,14,NULL,NULL,NULL),(44391,'NCBI Gene Summary',NULL,16948,NULL,'This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44392,'NCBI Gene PubMed Count',NULL,16948,NULL,NULL,NULL,58,NULL,NULL,NULL),(44393,'NCBI Gene Summary',NULL,16949,NULL,'This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(44394,'NCBI Gene PubMed Count',NULL,16949,NULL,NULL,NULL,38,NULL,NULL,NULL),(44395,'NCBI Gene Summary',NULL,16950,NULL,'In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44396,'NCBI Gene PubMed Count',NULL,16950,NULL,NULL,NULL,40,NULL,NULL,NULL),(44397,'NCBI Gene PubMed Count',NULL,16951,NULL,NULL,NULL,58,NULL,NULL,NULL),(44398,'NCBI Gene Summary',NULL,16952,NULL,'This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(44399,'NCBI Gene PubMed Count',NULL,16952,NULL,NULL,NULL,39,NULL,NULL,NULL),(44400,'NCBI Gene PubMed Count',NULL,16953,NULL,NULL,NULL,4,NULL,NULL,NULL),(44401,'NCBI Gene Summary',NULL,16954,NULL,'This gene is the human ortholog of the Drosophila melanogaster \'abnormal spindle\' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(44402,'NCBI Gene PubMed Count',NULL,16954,NULL,NULL,NULL,74,NULL,NULL,NULL),(44403,'NCBI Gene PubMed Count',NULL,16955,NULL,NULL,NULL,3,NULL,NULL,NULL),(44404,'NCBI Gene PubMed Count',NULL,16956,NULL,NULL,NULL,9,NULL,NULL,NULL),(44405,'NCBI Gene PubMed Count',NULL,16957,NULL,NULL,NULL,6,NULL,NULL,NULL),(44406,'NCBI Gene Summary',NULL,16958,NULL,'This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(44407,'NCBI Gene PubMed Count',NULL,16958,NULL,NULL,NULL,14,NULL,NULL,NULL),(44408,'NCBI Gene PubMed Count',NULL,16959,NULL,NULL,NULL,1,NULL,NULL,NULL),(44409,'NCBI Gene PubMed Count',NULL,16960,NULL,NULL,NULL,5,NULL,NULL,NULL),(44410,'NCBI Gene PubMed Count',NULL,16961,NULL,NULL,NULL,11,NULL,NULL,NULL),(44411,'NCBI Gene PubMed Count',NULL,16962,NULL,NULL,NULL,1,NULL,NULL,NULL),(44412,'NCBI Gene PubMed Count',NULL,16963,NULL,NULL,NULL,8,NULL,NULL,NULL),(44413,'NCBI Gene Summary',NULL,16964,NULL,'This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44414,'NCBI Gene PubMed Count',NULL,16964,NULL,NULL,NULL,9,NULL,NULL,NULL),(44415,'NCBI Gene Summary',NULL,16965,NULL,'This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(44416,'NCBI Gene PubMed Count',NULL,16965,NULL,NULL,NULL,26,NULL,NULL,NULL),(44417,'NCBI Gene Summary',NULL,16966,NULL,'This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer\'s disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(44418,'NCBI Gene PubMed Count',NULL,16966,NULL,NULL,NULL,58,NULL,NULL,NULL),(44419,'NCBI Gene Summary',NULL,16967,NULL,'This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44420,'NCBI Gene PubMed Count',NULL,16967,NULL,NULL,NULL,46,NULL,NULL,NULL),(44421,'NCBI Gene Summary',NULL,16968,NULL,'This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44422,'NCBI Gene PubMed Count',NULL,16968,NULL,NULL,NULL,12,NULL,NULL,NULL),(44423,'NCBI Gene Summary',NULL,16969,NULL,'This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene acts as a tumor suppressor that regulates G1/S transition in the cell cycle, and epidermal growth factor receptor/protein kinase B signaling during tumor pathogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(44424,'NCBI Gene PubMed Count',NULL,16969,NULL,NULL,NULL,11,NULL,NULL,NULL),(44425,'NCBI Gene Summary',NULL,16970,NULL,'This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene acts as a tumor suppressor, and plays a role in regulating the migration of tumor cells. The encoded protein is thought to function as a a negative regulator of epidermal growth factor-induced signaling. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(44426,'NCBI Gene PubMed Count',NULL,16970,NULL,NULL,NULL,20,NULL,NULL,NULL),(44427,'NCBI Gene Summary',NULL,16971,NULL,'The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CMTM1 (CKLF-like MARVEL transmembrane domain containing 1).[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(44428,'NCBI Gene PubMed Count',NULL,16971,NULL,NULL,NULL,22,NULL,NULL,NULL),(44429,'NCBI Gene Summary',NULL,16972,NULL,'This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(44430,'NCBI Gene PubMed Count',NULL,16972,NULL,NULL,NULL,7,NULL,NULL,NULL),(44431,'NCBI Gene PubMed Count',NULL,16973,NULL,NULL,NULL,0,NULL,NULL,NULL),(44432,'NCBI Gene PubMed Count',NULL,16974,NULL,NULL,NULL,3,NULL,NULL,NULL),(44433,'NCBI Gene PubMed Count',NULL,16975,NULL,NULL,NULL,8,NULL,NULL,NULL),(44434,'NCBI Gene PubMed Count',NULL,16976,NULL,NULL,NULL,4,NULL,NULL,NULL),(44435,'NCBI Gene PubMed Count',NULL,16977,NULL,NULL,NULL,2,NULL,NULL,NULL),(44436,'NCBI Gene PubMed Count',NULL,16978,NULL,NULL,NULL,3,NULL,NULL,NULL),(44437,'NCBI Gene Summary',NULL,16979,NULL,'This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44438,'NCBI Gene PubMed Count',NULL,16979,NULL,NULL,NULL,20,NULL,NULL,NULL),(44439,'NCBI Gene PubMed Count',NULL,16980,NULL,NULL,NULL,7,NULL,NULL,NULL),(44440,'NCBI Gene PubMed Count',NULL,16981,NULL,NULL,NULL,3,NULL,NULL,NULL),(44441,'NCBI Gene PubMed Count',NULL,16982,NULL,NULL,NULL,2,NULL,NULL,NULL),(44442,'NCBI Gene PubMed Count',NULL,16983,NULL,NULL,NULL,5,NULL,NULL,NULL),(44443,'NCBI Gene Summary',NULL,16984,NULL,'This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(44444,'NCBI Gene PubMed Count',NULL,16984,NULL,NULL,NULL,22,NULL,NULL,NULL),(44445,'NCBI Gene PubMed Count',NULL,16985,NULL,NULL,NULL,7,NULL,NULL,NULL),(44446,'NCBI Gene PubMed Count',NULL,16986,NULL,NULL,NULL,4,NULL,NULL,NULL),(44447,'NCBI Gene PubMed Count',NULL,16987,NULL,NULL,NULL,3,NULL,NULL,NULL),(44448,'NCBI Gene PubMed Count',NULL,16988,NULL,NULL,NULL,45,NULL,NULL,NULL),(44449,'NCBI Gene PubMed Count',NULL,16989,NULL,NULL,NULL,12,NULL,NULL,NULL),(44450,'NCBI Gene Summary',NULL,16990,NULL,'This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer\'s disease. Polymorphisms in this gene have been associated with Alzheimer\'s disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(44451,'NCBI Gene PubMed Count',NULL,16990,NULL,NULL,NULL,99,NULL,NULL,NULL),(44452,'NCBI Gene Summary',NULL,16991,NULL,'This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(44453,'NCBI Gene PubMed Count',NULL,16991,NULL,NULL,NULL,15,NULL,NULL,NULL),(44454,'NCBI Gene Summary',NULL,16992,NULL,'This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(44455,'NCBI Gene PubMed Count',NULL,16992,NULL,NULL,NULL,11,NULL,NULL,NULL),(44456,'NCBI Gene Summary',NULL,16993,NULL,'This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(44457,'NCBI Gene PubMed Count',NULL,16993,NULL,NULL,NULL,24,NULL,NULL,NULL),(44458,'NCBI Gene PubMed Count',NULL,16994,NULL,NULL,NULL,2,NULL,NULL,NULL),(44459,'NCBI Gene Summary',NULL,16995,NULL,'This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44460,'NCBI Gene PubMed Count',NULL,16995,NULL,NULL,NULL,9,NULL,NULL,NULL),(44461,'NCBI Gene Summary',NULL,16996,NULL,'This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44462,'NCBI Gene PubMed Count',NULL,16996,NULL,NULL,NULL,31,NULL,NULL,NULL),(44463,'NCBI Gene Summary',NULL,16997,NULL,'This gene encodes a glycan-binding receptor and member of the C-type lectin family which plays a role in the T-cell immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(44464,'NCBI Gene PubMed Count',NULL,16997,NULL,NULL,NULL,17,NULL,NULL,NULL),(44465,'NCBI Gene Summary',NULL,16998,NULL,'This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44466,'NCBI Gene PubMed Count',NULL,16998,NULL,NULL,NULL,22,NULL,NULL,NULL),(44467,'NCBI Gene Summary',NULL,16999,NULL,'This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44468,'NCBI Gene PubMed Count',NULL,16999,NULL,NULL,NULL,109,NULL,NULL,NULL),(44469,'NCBI Gene Summary',NULL,17000,NULL,'This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44470,'NCBI Gene PubMed Count',NULL,17000,NULL,NULL,NULL,47,NULL,NULL,NULL),(44471,'NCBI Gene PubMed Count',NULL,17001,NULL,NULL,NULL,5,NULL,NULL,NULL),(44472,'NCBI Gene PubMed Count',NULL,17002,NULL,NULL,NULL,8,NULL,NULL,NULL),(44473,'NCBI Gene Summary',NULL,17003,NULL,'Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44474,'NCBI Gene PubMed Count',NULL,17003,NULL,NULL,NULL,28,NULL,NULL,NULL),(44475,'NCBI Gene PubMed Count',NULL,17004,NULL,NULL,NULL,9,NULL,NULL,NULL),(44476,'NCBI Gene PubMed Count',NULL,17005,NULL,NULL,NULL,13,NULL,NULL,NULL),(44477,'NCBI Gene Summary',NULL,17006,NULL,'This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44478,'NCBI Gene PubMed Count',NULL,17006,NULL,NULL,NULL,26,NULL,NULL,NULL),(44479,'NCBI Gene Summary',NULL,17007,NULL,'This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(44480,'NCBI Gene PubMed Count',NULL,17007,NULL,NULL,NULL,24,NULL,NULL,NULL),(44481,'NCBI Gene Summary',NULL,17008,NULL,'The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44482,'NCBI Gene PubMed Count',NULL,17008,NULL,NULL,NULL,27,NULL,NULL,NULL),(44483,'NCBI Gene Summary',NULL,17009,NULL,'The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(44484,'NCBI Gene PubMed Count',NULL,17009,NULL,NULL,NULL,8,NULL,NULL,NULL),(44485,'NCBI Gene Summary',NULL,17010,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44486,'NCBI Gene PubMed Count',NULL,17010,NULL,NULL,NULL,40,NULL,NULL,NULL),(44487,'NCBI Gene Summary',NULL,17011,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is expressed in the inner ear and bladder epithelium, and it is over-expressed in colorectal carcinomas. This protein and claudin 2 are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(44488,'NCBI Gene PubMed Count',NULL,17011,NULL,NULL,NULL,28,NULL,NULL,NULL),(44489,'NCBI Gene Summary',NULL,17012,NULL,'Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44490,'NCBI Gene PubMed Count',NULL,17012,NULL,NULL,NULL,39,NULL,NULL,NULL),(44491,'NCBI Gene PubMed Count',NULL,17013,NULL,NULL,NULL,1,NULL,NULL,NULL),(44492,'NCBI Gene PubMed Count',NULL,17014,NULL,NULL,NULL,12,NULL,NULL,NULL),(44493,'NCBI Gene Summary',NULL,17015,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44494,'NCBI Gene PubMed Count',NULL,17015,NULL,NULL,NULL,15,NULL,NULL,NULL),(44495,'NCBI Gene Summary',NULL,17016,NULL,'This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(44496,'NCBI Gene PubMed Count',NULL,17016,NULL,NULL,NULL,28,NULL,NULL,NULL),(44497,'NCBI Gene Summary',NULL,17017,NULL,'The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(44498,'NCBI Gene PubMed Count',NULL,17017,NULL,NULL,NULL,37,NULL,NULL,NULL),(44499,'NCBI Gene Summary',NULL,17018,NULL,'The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(44500,'NCBI Gene PubMed Count',NULL,17018,NULL,NULL,NULL,18,NULL,NULL,NULL),(44501,'NCBI Gene PubMed Count',NULL,17019,NULL,NULL,NULL,5,NULL,NULL,NULL),(44502,'NCBI Gene Summary',NULL,17020,NULL,'This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(44503,'NCBI Gene PubMed Count',NULL,17020,NULL,NULL,NULL,218,NULL,NULL,NULL),(44504,'NCBI Gene Summary',NULL,17021,NULL,'This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44505,'NCBI Gene PubMed Count',NULL,17021,NULL,NULL,NULL,137,NULL,NULL,NULL),(44506,'NCBI Gene PubMed Count',NULL,17022,NULL,NULL,NULL,36,NULL,NULL,NULL),(44507,'NCBI Gene Summary',NULL,17023,NULL,'Calmegin is a testis-specific endoplasmic reticulum chaperone protein.  CLGN may play a role in spermatogeneisis and infertility. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44508,'NCBI Gene PubMed Count',NULL,17023,NULL,NULL,NULL,16,NULL,NULL,NULL),(44509,'NCBI Gene Summary',NULL,17024,NULL,'Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44510,'NCBI Gene PubMed Count',NULL,17024,NULL,NULL,NULL,18,NULL,NULL,NULL),(44511,'NCBI Gene Summary',NULL,17025,NULL,'Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44512,'NCBI Gene PubMed Count',NULL,17025,NULL,NULL,NULL,54,NULL,NULL,NULL),(44513,'NCBI Gene Summary',NULL,17026,NULL,'This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(44514,'NCBI Gene PubMed Count',NULL,17026,NULL,NULL,NULL,14,NULL,NULL,NULL),(44515,'NCBI Gene Summary',NULL,17027,NULL,'This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(44516,'NCBI Gene PubMed Count',NULL,17027,NULL,NULL,NULL,36,NULL,NULL,NULL),(44517,'NCBI Gene Summary',NULL,17028,NULL,'This gene encodes a dual specificity protein kinase that phosphorylates serine/threonine and tyrosine-containing substrates. Activity of this protein regulates serine- and arginine-rich (SR) proteins of the spliceosomal complex, thereby influencing alternative transcript splicing. Chromosomal translocations have been characterized between this locus and the PAFAH1B3 (platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)) gene on chromosome 19, resulting in the production of a fusion protein. Note that this gene is distinct from the TELO2 gene (GeneID:9894), which shares the CLK2 alias, but encodes a protein that is involved in telomere length regulation. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(44518,'NCBI Gene PubMed Count',NULL,17028,NULL,NULL,NULL,32,NULL,NULL,NULL),(44519,'NCBI Gene Summary',NULL,17029,NULL,'The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44520,'NCBI Gene PubMed Count',NULL,17029,NULL,NULL,NULL,10,NULL,NULL,NULL),(44521,'NCBI Gene Summary',NULL,17030,NULL,'This gene encodes a member of the CD300 glycoprotein family of cell surface proteins expressed on myeloid cells. The protein interacts with the TYRO protein tyrosine kinase-binding protein and is thought to act as an activating receptor. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(44522,'NCBI Gene PubMed Count',NULL,17030,NULL,NULL,NULL,11,NULL,NULL,NULL),(44523,'NCBI Gene Summary',NULL,17031,NULL,'The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44524,'NCBI Gene PubMed Count',NULL,17031,NULL,NULL,NULL,16,NULL,NULL,NULL),(44525,'NCBI Gene Summary',NULL,17032,NULL,'This gene encodes a member of the CD300 glycoprotein family of cell surface proteins found on leukocytes involved in immune response signaling pathways. This gene is located on chromosome 17 in a cluster with all but one of the other family members. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(44526,'NCBI Gene PubMed Count',NULL,17032,NULL,NULL,NULL,35,NULL,NULL,NULL),(44527,'NCBI Gene PubMed Count',NULL,17033,NULL,NULL,NULL,12,NULL,NULL,NULL),(44528,'NCBI Gene Summary',NULL,17034,NULL,'This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44529,'NCBI Gene PubMed Count',NULL,17034,NULL,NULL,NULL,23,NULL,NULL,NULL),(44530,'NCBI Gene Summary',NULL,17035,NULL,'This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(44531,'NCBI Gene PubMed Count',NULL,17035,NULL,NULL,NULL,35,NULL,NULL,NULL),(44532,'NCBI Gene Summary',NULL,17036,NULL,'This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(44533,'NCBI Gene PubMed Count',NULL,17036,NULL,NULL,NULL,28,NULL,NULL,NULL),(44534,'NCBI Gene Summary',NULL,17037,NULL,'This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44535,'NCBI Gene PubMed Count',NULL,17037,NULL,NULL,NULL,17,NULL,NULL,NULL),(44536,'NCBI Gene PubMed Count',NULL,17038,NULL,NULL,NULL,9,NULL,NULL,NULL),(44537,'NCBI Gene Summary',NULL,17039,NULL,'This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(44538,'NCBI Gene PubMed Count',NULL,17039,NULL,NULL,NULL,37,NULL,NULL,NULL),(44539,'NCBI Gene Summary',NULL,17040,NULL,'The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer\'s disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer\'s disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(44540,'NCBI Gene PubMed Count',NULL,17040,NULL,NULL,NULL,45,NULL,NULL,NULL),(44541,'NCBI Gene Summary',NULL,17041,NULL,'The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer\'s disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer\'s disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44542,'NCBI Gene PubMed Count',NULL,17041,NULL,NULL,NULL,24,NULL,NULL,NULL),(44543,'NCBI Gene Summary',NULL,17042,NULL,'This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44544,'NCBI Gene PubMed Count',NULL,17042,NULL,NULL,NULL,154,NULL,NULL,NULL),(44545,'NCBI Gene Summary',NULL,17043,NULL,'This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44546,'NCBI Gene PubMed Count',NULL,17043,NULL,NULL,NULL,69,NULL,NULL,NULL),(44547,'NCBI Gene Summary',NULL,17044,NULL,'The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44548,'NCBI Gene PubMed Count',NULL,17044,NULL,NULL,NULL,9,NULL,NULL,NULL),(44549,'NCBI Gene Summary',NULL,17045,NULL,'This locus represents naturally occurring read-through transcription between the neighboring RNF103 (ring finger protein 103) and CHMP3 (charged multivesicular body protein 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(44550,'NCBI Gene PubMed Count',NULL,17045,NULL,NULL,NULL,2,NULL,NULL,NULL),(44551,'NCBI Gene PubMed Count',NULL,17046,NULL,NULL,NULL,9,NULL,NULL,NULL),(44552,'NCBI Gene Summary',NULL,17047,NULL,'CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(44553,'NCBI Gene PubMed Count',NULL,17047,NULL,NULL,NULL,11,NULL,NULL,NULL),(44554,'NCBI Gene Summary',NULL,17048,NULL,'This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44555,'NCBI Gene PubMed Count',NULL,17048,NULL,NULL,NULL,28,NULL,NULL,NULL),(44556,'NCBI Gene Summary',NULL,17049,NULL,'This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(44557,'NCBI Gene PubMed Count',NULL,17049,NULL,NULL,NULL,81,NULL,NULL,NULL),(44558,'NCBI Gene Summary',NULL,17050,NULL,'This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(44559,'NCBI Gene PubMed Count',NULL,17050,NULL,NULL,NULL,42,NULL,NULL,NULL),(44560,'NCBI Gene Summary',NULL,17051,NULL,'The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(44561,'NCBI Gene PubMed Count',NULL,17051,NULL,NULL,NULL,137,NULL,NULL,NULL),(44562,'NCBI Gene PubMed Count',NULL,17052,NULL,NULL,NULL,17,NULL,NULL,NULL),(44563,'NCBI Gene PubMed Count',NULL,17053,NULL,NULL,NULL,52,NULL,NULL,NULL),(44564,'NCBI Gene Summary',NULL,17054,NULL,'This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. Genes encoding similar proteins are located on chromosomes 4 and 17, and a pseudogene of this gene is located on chromosome 2. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(44565,'NCBI Gene PubMed Count',NULL,17054,NULL,NULL,NULL,41,NULL,NULL,NULL),(44566,'NCBI Gene Summary',NULL,17055,NULL,'The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(44567,'NCBI Gene PubMed Count',NULL,17055,NULL,NULL,NULL,58,NULL,NULL,NULL),(44568,'NCBI Gene Summary',NULL,17056,NULL,'The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(44569,'NCBI Gene PubMed Count',NULL,17056,NULL,NULL,NULL,54,NULL,NULL,NULL),(44570,'NCBI Gene Summary',NULL,17057,NULL,'The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44571,'NCBI Gene PubMed Count',NULL,17057,NULL,NULL,NULL,40,NULL,NULL,NULL),(44572,'NCBI Gene PubMed Count',NULL,17058,NULL,NULL,NULL,6,NULL,NULL,NULL),(44573,'NCBI Gene PubMed Count',NULL,17059,NULL,NULL,NULL,7,NULL,NULL,NULL),(44574,'NCBI Gene Summary',NULL,17060,NULL,'This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(44575,'NCBI Gene PubMed Count',NULL,17060,NULL,NULL,NULL,13,NULL,NULL,NULL),(44576,'NCBI Gene Summary',NULL,17061,NULL,'This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(44577,'NCBI Gene PubMed Count',NULL,17061,NULL,NULL,NULL,79,NULL,NULL,NULL),(44578,'NCBI Gene Summary',NULL,17062,NULL,'The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(44579,'NCBI Gene PubMed Count',NULL,17062,NULL,NULL,NULL,24,NULL,NULL,NULL),(44580,'NCBI Gene PubMed Count',NULL,17063,NULL,NULL,NULL,7,NULL,NULL,NULL),(44581,'NCBI Gene PubMed Count',NULL,17064,NULL,NULL,NULL,5,NULL,NULL,NULL),(44582,'NCBI Gene PubMed Count',NULL,17065,NULL,NULL,NULL,14,NULL,NULL,NULL),(44583,'NCBI Gene PubMed Count',NULL,17066,NULL,NULL,NULL,1,NULL,NULL,NULL),(44584,'NCBI Gene PubMed Count',NULL,17067,NULL,NULL,NULL,3,NULL,NULL,NULL),(44585,'NCBI Gene PubMed Count',NULL,17068,NULL,NULL,NULL,3,NULL,NULL,NULL),(44586,'NCBI Gene PubMed Count',NULL,17069,NULL,NULL,NULL,3,NULL,NULL,NULL),(44587,'NCBI Gene PubMed Count',NULL,17070,NULL,NULL,NULL,1,NULL,NULL,NULL),(44588,'NCBI Gene PubMed Count',NULL,17071,NULL,NULL,NULL,1,NULL,NULL,NULL),(44589,'NCBI Gene PubMed Count',NULL,17072,NULL,NULL,NULL,6,NULL,NULL,NULL),(44590,'NCBI Gene PubMed Count',NULL,17073,NULL,NULL,NULL,17,NULL,NULL,NULL),(44591,'NCBI Gene PubMed Count',NULL,17074,NULL,NULL,NULL,9,NULL,NULL,NULL),(44592,'NCBI Gene Summary',NULL,17075,NULL,'The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(44593,'NCBI Gene PubMed Count',NULL,17075,NULL,NULL,NULL,92,NULL,NULL,NULL),(44594,'NCBI Gene PubMed Count',NULL,17076,NULL,NULL,NULL,1,NULL,NULL,NULL),(44595,'NCBI Gene Summary',NULL,17077,NULL,'This gene shares three exons in common with another gene, LBH domain containing 1 (GeneID:79081), but the encoded protein uses a reading frame that is different from that of the LBH domain containing 1 gene. [provided by RefSeq, Nov 2017]',NULL,NULL,NULL,NULL,NULL),(44596,'NCBI Gene PubMed Count',NULL,17077,NULL,NULL,NULL,4,NULL,NULL,NULL),(44597,'NCBI Gene Summary',NULL,17078,NULL,'This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(44598,'NCBI Gene PubMed Count',NULL,17078,NULL,NULL,NULL,35,NULL,NULL,NULL),(44599,'NCBI Gene PubMed Count',NULL,17079,NULL,NULL,NULL,57,NULL,NULL,NULL),(44600,'NCBI Gene Summary',NULL,17081,NULL,'This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44601,'NCBI Gene PubMed Count',NULL,17081,NULL,NULL,NULL,79,NULL,NULL,NULL),(44602,'NCBI Gene PubMed Count',NULL,17082,NULL,NULL,NULL,4,NULL,NULL,NULL),(44603,'NCBI Gene PubMed Count',NULL,17083,NULL,NULL,NULL,0,NULL,NULL,NULL),(44604,'NCBI Gene Summary',NULL,17084,NULL,'This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility.[provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(44605,'NCBI Gene PubMed Count',NULL,17084,NULL,NULL,NULL,16,NULL,NULL,NULL),(44606,'NCBI Gene Summary',NULL,17085,NULL,'Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(44607,'NCBI Gene PubMed Count',NULL,17085,NULL,NULL,NULL,40,NULL,NULL,NULL),(44608,'NCBI Gene PubMed Count',NULL,17086,NULL,NULL,NULL,9,NULL,NULL,NULL),(44609,'NCBI Gene Summary',NULL,17087,NULL,'This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44610,'NCBI Gene PubMed Count',NULL,17087,NULL,NULL,NULL,23,NULL,NULL,NULL),(44611,'NCBI Gene Summary',NULL,17088,NULL,'This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44612,'NCBI Gene PubMed Count',NULL,17088,NULL,NULL,NULL,23,NULL,NULL,NULL),(44613,'NCBI Gene Summary',NULL,17089,NULL,'This gene encodes a transmembrane receptor and is often referred to as L-SIGN because of its expression in the endothelial cells of the lymph nodes and liver. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses, with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are common and have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 30835; often referred to as DC-SIGN or CD209). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(44614,'NCBI Gene PubMed Count',NULL,17089,NULL,NULL,NULL,93,NULL,NULL,NULL),(44615,'NCBI Gene Summary',NULL,17090,NULL,'CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(44616,'NCBI Gene PubMed Count',NULL,17090,NULL,NULL,NULL,17,NULL,NULL,NULL),(44617,'NCBI Gene Summary',NULL,17091,NULL,'This gene is a transcribed pseudogene belonging to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. This gene contains several nonsense codons compared to other family members that render the transcript a candidate for nonsense-mediated mRNA decay (NMD). Therefore, this gene is unlikely to be protein-coding. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(44618,'NCBI Gene PubMed Count',NULL,17091,NULL,NULL,NULL,4,NULL,NULL,NULL),(44619,'NCBI Gene Summary',NULL,17092,NULL,'The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Alternative splicing results in multiple transcript variants, only one of which is thought to be protein coding. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(44620,'NCBI Gene PubMed Count',NULL,17092,NULL,NULL,NULL,11,NULL,NULL,NULL),(44621,'NCBI Gene PubMed Count',NULL,17093,NULL,NULL,NULL,11,NULL,NULL,NULL),(44622,'NCBI Gene Summary',NULL,17094,NULL,'This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(44623,'NCBI Gene PubMed Count',NULL,17094,NULL,NULL,NULL,27,NULL,NULL,NULL),(44624,'NCBI Gene PubMed Count',NULL,17095,NULL,NULL,NULL,13,NULL,NULL,NULL),(44625,'NCBI Gene Summary',NULL,17096,NULL,'The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44626,'NCBI Gene PubMed Count',NULL,17096,NULL,NULL,NULL,16,NULL,NULL,NULL),(44627,'NCBI Gene PubMed Count',NULL,17097,NULL,NULL,NULL,3,NULL,NULL,NULL),(44628,'NCBI Gene PubMed Count',NULL,17098,NULL,NULL,NULL,12,NULL,NULL,NULL),(44629,'NCBI Gene PubMed Count',NULL,17099,NULL,NULL,NULL,6,NULL,NULL,NULL),(44630,'NCBI Gene Summary',NULL,17100,NULL,'This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(44631,'NCBI Gene PubMed Count',NULL,17100,NULL,NULL,NULL,9,NULL,NULL,NULL),(44632,'NCBI Gene Summary',NULL,17101,NULL,'The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(44633,'NCBI Gene PubMed Count',NULL,17101,NULL,NULL,NULL,82,NULL,NULL,NULL),(44634,'NCBI Gene Summary',NULL,17102,NULL,'This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44635,'NCBI Gene PubMed Count',NULL,17102,NULL,NULL,NULL,26,NULL,NULL,NULL),(44636,'NCBI Gene Summary',NULL,17103,NULL,'The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(44637,'NCBI Gene PubMed Count',NULL,17103,NULL,NULL,NULL,83,NULL,NULL,NULL),(44638,'NCBI Gene Summary',NULL,17104,NULL,'This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(44639,'NCBI Gene PubMed Count',NULL,17104,NULL,NULL,NULL,30,NULL,NULL,NULL),(44640,'NCBI Gene Summary',NULL,17105,NULL,'The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44641,'NCBI Gene PubMed Count',NULL,17105,NULL,NULL,NULL,60,NULL,NULL,NULL),(44642,'NCBI Gene Summary',NULL,17106,NULL,'Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. This gene and the CLDN1 gene are clustered on chromosome 3q28. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44643,'NCBI Gene PubMed Count',NULL,17106,NULL,NULL,NULL,43,NULL,NULL,NULL),(44644,'NCBI Gene PubMed Count',NULL,17107,NULL,NULL,NULL,21,NULL,NULL,NULL),(44645,'NCBI Gene PubMed Count',NULL,17108,NULL,NULL,NULL,21,NULL,NULL,NULL),(44646,'NCBI Gene Summary',NULL,17109,NULL,'This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5\' untranslated region have been found for this gene.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(44647,'NCBI Gene PubMed Count',NULL,17109,NULL,NULL,NULL,94,NULL,NULL,NULL),(44648,'NCBI Gene PubMed Count',NULL,17110,NULL,NULL,NULL,2,NULL,NULL,NULL),(44649,'NCBI Gene Summary',NULL,17111,NULL,'This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44650,'NCBI Gene PubMed Count',NULL,17111,NULL,NULL,NULL,78,NULL,NULL,NULL),(44651,'NCBI Gene Summary',NULL,17112,NULL,'This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44652,'NCBI Gene PubMed Count',NULL,17112,NULL,NULL,NULL,17,NULL,NULL,NULL),(44653,'NCBI Gene Summary',NULL,17113,NULL,'This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein plays important roles in the paracellular cation barrier of the distal renal tubule, and in the paracellular barrier to prevent sodium back-leakage in distal colon. Differential expression of this gene has been observed in colorectal carcinoma and renal cell tumors, and along with claudin-7, is an immunohistochemical marker for the differential diagnosis of chromophobe renal cell carcinoma and renal oncocytoma.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(44654,'NCBI Gene PubMed Count',NULL,17113,NULL,NULL,NULL,34,NULL,NULL,NULL),(44655,'NCBI Gene Summary',NULL,17114,NULL,'The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(44656,'NCBI Gene PubMed Count',NULL,17114,NULL,NULL,NULL,13,NULL,NULL,NULL),(44657,'NCBI Gene Summary',NULL,17115,NULL,'This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(44658,'NCBI Gene PubMed Count',NULL,17115,NULL,NULL,NULL,32,NULL,NULL,NULL),(44659,'NCBI Gene Summary',NULL,17116,NULL,'Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44660,'NCBI Gene PubMed Count',NULL,17116,NULL,NULL,NULL,48,NULL,NULL,NULL),(44661,'NCBI Gene Summary',NULL,17117,NULL,'This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(44662,'NCBI Gene PubMed Count',NULL,17117,NULL,NULL,NULL,18,NULL,NULL,NULL),(44663,'NCBI Gene Summary',NULL,17118,NULL,'The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(44664,'NCBI Gene PubMed Count',NULL,17118,NULL,NULL,NULL,19,NULL,NULL,NULL),(44665,'NCBI Gene Summary',NULL,17119,NULL,'Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(44666,'NCBI Gene PubMed Count',NULL,17119,NULL,NULL,NULL,56,NULL,NULL,NULL),(44667,'NCBI Gene Summary',NULL,17120,NULL,'The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(44668,'NCBI Gene PubMed Count',NULL,17120,NULL,NULL,NULL,27,NULL,NULL,NULL),(44669,'NCBI Gene Summary',NULL,17121,NULL,'This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44670,'NCBI Gene PubMed Count',NULL,17121,NULL,NULL,NULL,32,NULL,NULL,NULL),(44671,'NCBI Gene Summary',NULL,17122,NULL,'The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44672,'NCBI Gene PubMed Count',NULL,17122,NULL,NULL,NULL,21,NULL,NULL,NULL),(44673,'NCBI Gene PubMed Count',NULL,17123,NULL,NULL,NULL,3,NULL,NULL,NULL),(44674,'NCBI Gene PubMed Count',NULL,17124,NULL,NULL,NULL,15,NULL,NULL,NULL),(44675,'NCBI Gene Summary',NULL,17125,NULL,'This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44676,'NCBI Gene PubMed Count',NULL,17125,NULL,NULL,NULL,21,NULL,NULL,NULL),(44677,'NCBI Gene Summary',NULL,17126,NULL,'The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(44678,'NCBI Gene PubMed Count',NULL,17126,NULL,NULL,NULL,47,NULL,NULL,NULL),(44679,'NCBI Gene Summary',NULL,17127,NULL,'The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44680,'NCBI Gene PubMed Count',NULL,17127,NULL,NULL,NULL,33,NULL,NULL,NULL),(44681,'NCBI Gene PubMed Count',NULL,17128,NULL,NULL,NULL,19,NULL,NULL,NULL),(44682,'NCBI Gene PubMed Count',NULL,17129,NULL,NULL,NULL,10,NULL,NULL,NULL),(44683,'NCBI Gene Summary',NULL,17130,NULL,'The 19-kD cAMP-regulated phosphoprotein plays a role in regulating mitosis by inhibiting protein phosphatase-2A (PP2A; see MIM 176915) (summary by Gharbi-Ayachi et al., 2010 [PubMed 21164014]).[supplied by OMIM, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(44684,'NCBI Gene PubMed Count',NULL,17130,NULL,NULL,NULL,17,NULL,NULL,NULL),(44685,'NCBI Gene Summary',NULL,17131,NULL,'The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(44686,'NCBI Gene PubMed Count',NULL,17131,NULL,NULL,NULL,85,NULL,NULL,NULL),(44687,'NCBI Gene PubMed Count',NULL,17132,NULL,NULL,NULL,3,NULL,NULL,NULL),(44688,'NCBI Gene Summary',NULL,17133,NULL,'This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44689,'NCBI Gene PubMed Count',NULL,17133,NULL,NULL,NULL,42,NULL,NULL,NULL),(44690,'NCBI Gene PubMed Count',NULL,17134,NULL,NULL,NULL,1,NULL,NULL,NULL),(44691,'NCBI Gene Summary',NULL,17135,NULL,'Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(44692,'NCBI Gene PubMed Count',NULL,17135,NULL,NULL,NULL,210,NULL,NULL,NULL),(44693,'NCBI Gene PubMed Count',NULL,17136,NULL,NULL,NULL,12,NULL,NULL,NULL),(44694,'NCBI Gene Summary',NULL,17137,NULL,'Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(44695,'NCBI Gene PubMed Count',NULL,17137,NULL,NULL,NULL,259,NULL,NULL,NULL),(44696,'NCBI Gene Summary',NULL,17138,NULL,'Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(44697,'NCBI Gene PubMed Count',NULL,17138,NULL,NULL,NULL,65,NULL,NULL,NULL),(44698,'NCBI Gene Summary',NULL,17139,NULL,'The protein encoded by this gene is a non-visual arrestin which binds to agonist-activated, phosphorylated G protein-coupled receptors. This binding uncouples the receptor from the heterotrimeric G protein, resulting in termination of the G protein-coupled receptor signaling. The encoded protein also is a part of the centrosome, interacting with gamma-tubulin to help regulate proper centrosome function. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(44699,'NCBI Gene PubMed Count',NULL,17139,NULL,NULL,NULL,38,NULL,NULL,NULL),(44700,'NCBI Gene Summary',NULL,17140,NULL,'The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(44701,'NCBI Gene PubMed Count',NULL,17140,NULL,NULL,NULL,50,NULL,NULL,NULL),(44702,'NCBI Gene Summary',NULL,17141,NULL,'The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(44703,'NCBI Gene PubMed Count',NULL,17141,NULL,NULL,NULL,12,NULL,NULL,NULL),(44704,'NCBI Gene Summary',NULL,17142,NULL,'This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(44705,'NCBI Gene PubMed Count',NULL,17142,NULL,NULL,NULL,11,NULL,NULL,NULL),(44706,'NCBI Gene Summary',NULL,17143,NULL,'The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(44707,'NCBI Gene PubMed Count',NULL,17143,NULL,NULL,NULL,14,NULL,NULL,NULL),(44708,'NCBI Gene Summary',NULL,17144,NULL,'Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44709,'NCBI Gene PubMed Count',NULL,17144,NULL,NULL,NULL,8,NULL,NULL,NULL),(44710,'NCBI Gene Summary',NULL,17145,NULL,'Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44711,'NCBI Gene PubMed Count',NULL,17145,NULL,NULL,NULL,6,NULL,NULL,NULL),(44712,'NCBI Gene Summary',NULL,17146,NULL,'This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(44713,'NCBI Gene PubMed Count',NULL,17146,NULL,NULL,NULL,54,NULL,NULL,NULL),(44714,'NCBI Gene PubMed Count',NULL,17147,NULL,NULL,NULL,23,NULL,NULL,NULL),(44715,'NCBI Gene PubMed Count',NULL,17148,NULL,NULL,NULL,4,NULL,NULL,NULL),(44716,'NCBI Gene Summary',NULL,17149,NULL,'Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44717,'NCBI Gene PubMed Count',NULL,17149,NULL,NULL,NULL,31,NULL,NULL,NULL),(44718,'NCBI Gene Summary',NULL,17150,NULL,'The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44719,'NCBI Gene PubMed Count',NULL,17150,NULL,NULL,NULL,7,NULL,NULL,NULL),(44720,'NCBI Gene Summary',NULL,17151,NULL,'The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(44721,'NCBI Gene PubMed Count',NULL,17151,NULL,NULL,NULL,10,NULL,NULL,NULL),(44722,'NCBI Gene PubMed Count',NULL,17152,NULL,NULL,NULL,5,NULL,NULL,NULL),(44723,'NCBI Gene Summary',NULL,17153,NULL,'This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(44724,'NCBI Gene PubMed Count',NULL,17153,NULL,NULL,NULL,16,NULL,NULL,NULL),(44725,'NCBI Gene Summary',NULL,17154,NULL,'The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(44726,'NCBI Gene PubMed Count',NULL,17154,NULL,NULL,NULL,7,NULL,NULL,NULL),(44727,'NCBI Gene Summary',NULL,17155,NULL,'This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5\'-CANNTG-3\'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44728,'NCBI Gene PubMed Count',NULL,17155,NULL,NULL,NULL,29,NULL,NULL,NULL),(44729,'NCBI Gene PubMed Count',NULL,17156,NULL,NULL,NULL,1,NULL,NULL,NULL),(44730,'NCBI Gene Summary',NULL,17157,NULL,'This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(44731,'NCBI Gene PubMed Count',NULL,17157,NULL,NULL,NULL,6,NULL,NULL,NULL),(44732,'NCBI Gene Summary',NULL,17158,NULL,'The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44733,'NCBI Gene PubMed Count',NULL,17158,NULL,NULL,NULL,7,NULL,NULL,NULL),(44734,'NCBI Gene PubMed Count',NULL,17159,NULL,NULL,NULL,8,NULL,NULL,NULL),(44735,'NCBI Gene Summary',NULL,17160,NULL,'The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(44736,'NCBI Gene PubMed Count',NULL,17160,NULL,NULL,NULL,5,NULL,NULL,NULL),(44737,'NCBI Gene Summary',NULL,17161,NULL,'This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44738,'NCBI Gene PubMed Count',NULL,17161,NULL,NULL,NULL,37,NULL,NULL,NULL),(44739,'NCBI Gene PubMed Count',NULL,17162,NULL,NULL,NULL,8,NULL,NULL,NULL),(44740,'NCBI Gene PubMed Count',NULL,17163,NULL,NULL,NULL,12,NULL,NULL,NULL),(44741,'NCBI Gene PubMed Count',NULL,17164,NULL,NULL,NULL,13,NULL,NULL,NULL),(44742,'NCBI Gene Summary',NULL,17165,NULL,'The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(44743,'NCBI Gene PubMed Count',NULL,17165,NULL,NULL,NULL,11,NULL,NULL,NULL),(44744,'NCBI Gene Summary',NULL,17166,NULL,'This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(44745,'NCBI Gene PubMed Count',NULL,17166,NULL,NULL,NULL,32,NULL,NULL,NULL),(44746,'NCBI Gene Summary',NULL,17167,NULL,'This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(44747,'NCBI Gene PubMed Count',NULL,17167,NULL,NULL,NULL,32,NULL,NULL,NULL),(44748,'NCBI Gene Summary',NULL,17168,NULL,'CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM, Apr 2008]',NULL,NULL,NULL,NULL,NULL),(44749,'NCBI Gene PubMed Count',NULL,17168,NULL,NULL,NULL,5,NULL,NULL,NULL),(44750,'NCBI Gene Summary',NULL,17169,NULL,'The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(44751,'NCBI Gene PubMed Count',NULL,17169,NULL,NULL,NULL,26,NULL,NULL,NULL),(44752,'NCBI Gene PubMed Count',NULL,17170,NULL,NULL,NULL,3,NULL,NULL,NULL),(44753,'NCBI Gene Summary',NULL,17171,NULL,'This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(44754,'NCBI Gene PubMed Count',NULL,17171,NULL,NULL,NULL,53,NULL,NULL,NULL),(44755,'NCBI Gene Summary',NULL,17172,NULL,'This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44756,'NCBI Gene PubMed Count',NULL,17172,NULL,NULL,NULL,40,NULL,NULL,NULL),(44757,'NCBI Gene Summary',NULL,17173,NULL,'This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44758,'NCBI Gene PubMed Count',NULL,17173,NULL,NULL,NULL,100,NULL,NULL,NULL),(44759,'NCBI Gene Summary',NULL,17174,NULL,'This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(44760,'NCBI Gene PubMed Count',NULL,17174,NULL,NULL,NULL,49,NULL,NULL,NULL),(44761,'NCBI Gene Summary',NULL,17175,NULL,'This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(44762,'NCBI Gene PubMed Count',NULL,17175,NULL,NULL,NULL,26,NULL,NULL,NULL),(44763,'NCBI Gene Summary',NULL,17176,NULL,'The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(44764,'NCBI Gene PubMed Count',NULL,17176,NULL,NULL,NULL,66,NULL,NULL,NULL),(44765,'NCBI Gene Summary',NULL,17177,NULL,'The protein encoded by this intronless gene belongs to the CITED family of transcriptional coactivators that bind to several proteins, including CREB-binding protein (CBP) and p300, via a conserved 32 aa C-terminal motif, and regulate gene transcription. This protein also interacts with transcription factor AP2 (TFAP2), and thus may function as a co-activator for TFAP2. Hypermethylation and transcriptional downregulation of this gene has been observed in oligodendroglial tumors with deletions of chromosomal arms 1p and 19q, and associated with longer recurrence-free and overall survival of patients with oligodendroglial tumors. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44766,'NCBI Gene PubMed Count',NULL,17177,NULL,NULL,NULL,12,NULL,NULL,NULL),(44767,'NCBI Gene PubMed Count',NULL,17178,NULL,NULL,NULL,5,NULL,NULL,NULL),(44768,'NCBI Gene PubMed Count',NULL,17179,NULL,NULL,NULL,1,NULL,NULL,NULL),(44769,'NCBI Gene PubMed Count',NULL,17180,NULL,NULL,NULL,5,NULL,NULL,NULL),(44770,'NCBI Gene PubMed Count',NULL,17181,NULL,NULL,NULL,10,NULL,NULL,NULL),(44771,'NCBI Gene PubMed Count',NULL,17182,NULL,NULL,NULL,4,NULL,NULL,NULL),(44772,'NCBI Gene PubMed Count',NULL,17183,NULL,NULL,NULL,5,NULL,NULL,NULL),(44773,'NCBI Gene PubMed Count',NULL,17184,NULL,NULL,NULL,6,NULL,NULL,NULL),(44774,'NCBI Gene PubMed Count',NULL,17185,NULL,NULL,NULL,4,NULL,NULL,NULL),(44775,'NCBI Gene PubMed Count',NULL,17186,NULL,NULL,NULL,8,NULL,NULL,NULL),(44776,'NCBI Gene PubMed Count',NULL,17187,NULL,NULL,NULL,7,NULL,NULL,NULL),(44777,'NCBI Gene PubMed Count',NULL,17188,NULL,NULL,NULL,5,NULL,NULL,NULL),(44778,'NCBI Gene PubMed Count',NULL,17189,NULL,NULL,NULL,2,NULL,NULL,NULL),(44779,'NCBI Gene PubMed Count',NULL,17190,NULL,NULL,NULL,2,NULL,NULL,NULL),(44780,'NCBI Gene PubMed Count',NULL,17191,NULL,NULL,NULL,2,NULL,NULL,NULL),(44781,'NCBI Gene PubMed Count',NULL,17192,NULL,NULL,NULL,2,NULL,NULL,NULL),(44782,'NCBI Gene PubMed Count',NULL,17193,NULL,NULL,NULL,3,NULL,NULL,NULL),(44783,'NCBI Gene PubMed Count',NULL,17194,NULL,NULL,NULL,6,NULL,NULL,NULL),(44784,'NCBI Gene PubMed Count',NULL,17195,NULL,NULL,NULL,4,NULL,NULL,NULL),(44785,'NCBI Gene PubMed Count',NULL,17196,NULL,NULL,NULL,13,NULL,NULL,NULL),(44786,'NCBI Gene PubMed Count',NULL,17197,NULL,NULL,NULL,11,NULL,NULL,NULL),(44787,'NCBI Gene PubMed Count',NULL,17198,NULL,NULL,NULL,5,NULL,NULL,NULL),(44788,'NCBI Gene PubMed Count',NULL,17199,NULL,NULL,NULL,1,NULL,NULL,NULL),(44789,'NCBI Gene PubMed Count',NULL,17200,NULL,NULL,NULL,1,NULL,NULL,NULL),(44790,'NCBI Gene PubMed Count',NULL,17201,NULL,NULL,NULL,3,NULL,NULL,NULL),(44791,'NCBI Gene Summary',NULL,17202,NULL,'This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(44792,'NCBI Gene PubMed Count',NULL,17202,NULL,NULL,NULL,41,NULL,NULL,NULL),(44793,'NCBI Gene Summary',NULL,17203,NULL,'This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CKLF (chemokine-like factor).[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(44794,'NCBI Gene PubMed Count',NULL,17203,NULL,NULL,NULL,9,NULL,NULL,NULL),(44795,'NCBI Gene Summary',NULL,17204,NULL,'This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5\' UTRs, but encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44796,'NCBI Gene PubMed Count',NULL,17204,NULL,NULL,NULL,23,NULL,NULL,NULL),(44797,'NCBI Gene Summary',NULL,17205,NULL,'This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44798,'NCBI Gene PubMed Count',NULL,17205,NULL,NULL,NULL,8,NULL,NULL,NULL),(44799,'NCBI Gene Summary',NULL,17206,NULL,'This gene encodes a member of the chemokine-like factor superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. The encoded protein may exhibit tumor suppressor activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(44800,'NCBI Gene PubMed Count',NULL,17206,NULL,NULL,NULL,19,NULL,NULL,NULL),(44801,'NCBI Gene Summary',NULL,17207,NULL,'This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44802,'NCBI Gene PubMed Count',NULL,17207,NULL,NULL,NULL,12,NULL,NULL,NULL),(44803,'NCBI Gene PubMed Count',NULL,17208,NULL,NULL,NULL,7,NULL,NULL,NULL),(44804,'NCBI Gene PubMed Count',NULL,17209,NULL,NULL,NULL,2,NULL,NULL,NULL),(44805,'NCBI Gene PubMed Count',NULL,17210,NULL,NULL,NULL,4,NULL,NULL,NULL),(44806,'NCBI Gene PubMed Count',NULL,17211,NULL,NULL,NULL,5,NULL,NULL,NULL),(44807,'NCBI Gene PubMed Count',NULL,17212,NULL,NULL,NULL,7,NULL,NULL,NULL),(44808,'NCBI Gene PubMed Count',NULL,17213,NULL,NULL,NULL,4,NULL,NULL,NULL),(44809,'NCBI Gene PubMed Count',NULL,17214,NULL,NULL,NULL,1,NULL,NULL,NULL),(44810,'NCBI Gene PubMed Count',NULL,17215,NULL,NULL,NULL,5,NULL,NULL,NULL),(44811,'NCBI Gene PubMed Count',NULL,17216,NULL,NULL,NULL,1,NULL,NULL,NULL),(44812,'NCBI Gene PubMed Count',NULL,17217,NULL,NULL,NULL,2,NULL,NULL,NULL),(44813,'NCBI Gene PubMed Count',NULL,17218,NULL,NULL,NULL,1,NULL,NULL,NULL),(44814,'NCBI Gene Summary',NULL,17219,NULL,'This is one of three closely related paralogous genes on chromosome 16 encoding secreted proteins containing C-type lectin domains. These domains bind to carbohydrates in the presence of calcium, and may be involved in cell adhesion, immune response and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(44815,'NCBI Gene PubMed Count',NULL,17219,NULL,NULL,NULL,10,NULL,NULL,NULL),(44816,'NCBI Gene PubMed Count',NULL,17220,NULL,NULL,NULL,6,NULL,NULL,NULL),(44817,'NCBI Gene Summary',NULL,17221,NULL,'CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44818,'NCBI Gene PubMed Count',NULL,17221,NULL,NULL,NULL,47,NULL,NULL,NULL),(44819,'NCBI Gene PubMed Count',NULL,17222,NULL,NULL,NULL,8,NULL,NULL,NULL),(44820,'NCBI Gene Summary',NULL,17223,NULL,'This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell surface antigen. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44821,'NCBI Gene PubMed Count',NULL,17223,NULL,NULL,NULL,15,NULL,NULL,NULL),(44822,'NCBI Gene Summary',NULL,17224,NULL,'This gene encodes a member of the C-type lectin superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44823,'NCBI Gene PubMed Count',NULL,17224,NULL,NULL,NULL,25,NULL,NULL,NULL),(44824,'NCBI Gene Summary',NULL,17225,NULL,'CLEC2A belongs to the CLEC2 family of activation-induced, natural killer gene complex-encoded C-type lectin-like receptors (Spreu et al., 2007 [PubMed 18046548]).[supplied by OMIM, May 2008]',NULL,NULL,NULL,NULL,NULL),(44825,'NCBI Gene PubMed Count',NULL,17225,NULL,NULL,NULL,9,NULL,NULL,NULL),(44826,'NCBI Gene Summary',NULL,17226,NULL,'This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44827,'NCBI Gene PubMed Count',NULL,17226,NULL,NULL,NULL,18,NULL,NULL,NULL),(44828,'NCBI Gene Summary',NULL,17227,NULL,'This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(44829,'NCBI Gene PubMed Count',NULL,17227,NULL,NULL,NULL,5,NULL,NULL,NULL),(44830,'NCBI Gene Summary',NULL,17228,NULL,'CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44831,'NCBI Gene PubMed Count',NULL,17228,NULL,NULL,NULL,28,NULL,NULL,NULL),(44832,'NCBI Gene Summary',NULL,17229,NULL,'This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. It has been suggested that this gene could be a candidate gene for Cornelia de Lange syndrome. Reduced expression of this gene results in enhanced bone regeneration. Alternative splicing results in multiple transcript variants. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(44833,'NCBI Gene PubMed Count',NULL,17229,NULL,NULL,NULL,31,NULL,NULL,NULL),(44834,'NCBI Gene Summary',NULL,17230,NULL,'This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(44835,'NCBI Gene PubMed Count',NULL,17230,NULL,NULL,NULL,19,NULL,NULL,NULL),(44836,'NCBI Gene Summary',NULL,17231,NULL,'CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44837,'NCBI Gene PubMed Count',NULL,17231,NULL,NULL,NULL,5,NULL,NULL,NULL),(44838,'NCBI Gene Summary',NULL,17232,NULL,'This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X antigen. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44839,'NCBI Gene PubMed Count',NULL,17232,NULL,NULL,NULL,25,NULL,NULL,NULL),(44840,'NCBI Gene Summary',NULL,17233,NULL,'This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(44841,'NCBI Gene PubMed Count',NULL,17233,NULL,NULL,NULL,23,NULL,NULL,NULL),(44842,'NCBI Gene Summary',NULL,17234,NULL,'This gene encodes an N-acetylglucosamine 6-O sulfotransferase. The encoded enzyme transfers sulfate from 3\'phosphoadenosine 5\'phospho-sulfate to the 6-hydroxyl group of N-acetylglucosamine on glycoproteins. This protein is localized to the Golgi and is involved in the modification of glycan structures on ligands of the lymphocyte homing receptor L-selectin. Alternate splicing in the 5\' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(44843,'NCBI Gene PubMed Count',NULL,17234,NULL,NULL,NULL,22,NULL,NULL,NULL),(44844,'NCBI Gene Summary',NULL,17235,NULL,'This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(44845,'NCBI Gene PubMed Count',NULL,17235,NULL,NULL,NULL,13,NULL,NULL,NULL),(44846,'NCBI Gene Summary',NULL,17236,NULL,'This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(44847,'NCBI Gene PubMed Count',NULL,17236,NULL,NULL,NULL,19,NULL,NULL,NULL),(44848,'NCBI Gene Summary',NULL,17237,NULL,'This gene encodes a small nuclear protein that is characterized by an arginine and glycine rich region. This protein may have an important role in the regulation of fetal globin gene expression and in the activation of estrogen-responsive genes. A recent study reported that this protein binds 5-hydroxymethylcytosine (5hmC) and associates with an arginine methyltransferase complex (methylosome), which promotes methylation of arginine 3 of histone H4 (H4R3) and activation of genes involved in glioblastomagenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(44849,'NCBI Gene PubMed Count',NULL,17237,NULL,NULL,NULL,20,NULL,NULL,NULL),(44850,'NCBI Gene Summary',NULL,17238,NULL,'This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(44851,'NCBI Gene PubMed Count',NULL,17238,NULL,NULL,NULL,15,NULL,NULL,NULL),(44852,'NCBI Gene PubMed Count',NULL,17239,NULL,NULL,NULL,1,NULL,NULL,NULL),(44853,'NCBI Gene PubMed Count',NULL,17240,NULL,NULL,NULL,9,NULL,NULL,NULL),(44854,'NCBI Gene Summary',NULL,17241,NULL,'The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44855,'NCBI Gene PubMed Count',NULL,17241,NULL,NULL,NULL,84,NULL,NULL,NULL),(44856,'NCBI Gene PubMed Count',NULL,17242,NULL,NULL,NULL,6,NULL,NULL,NULL),(44857,'NCBI Gene PubMed Count',NULL,17243,NULL,NULL,NULL,15,NULL,NULL,NULL),(44858,'NCBI Gene PubMed Count',NULL,17244,NULL,NULL,NULL,1,NULL,NULL,NULL),(44859,'NCBI Gene PubMed Count',NULL,17245,NULL,NULL,NULL,12,NULL,NULL,NULL),(44860,'NCBI Gene PubMed Count',NULL,17246,NULL,NULL,NULL,3,NULL,NULL,NULL),(44861,'NCBI Gene PubMed Count',NULL,17247,NULL,NULL,NULL,3,NULL,NULL,NULL),(44862,'NCBI Gene PubMed Count',NULL,17248,NULL,NULL,NULL,17,NULL,NULL,NULL),(44863,'NCBI Gene PubMed Count',NULL,17249,NULL,NULL,NULL,4,NULL,NULL,NULL),(44864,'NCBI Gene PubMed Count',NULL,17250,NULL,NULL,NULL,3,NULL,NULL,NULL),(44865,'NCBI Gene PubMed Count',NULL,17251,NULL,NULL,NULL,12,NULL,NULL,NULL),(44866,'NCBI Gene PubMed Count',NULL,17252,NULL,NULL,NULL,22,NULL,NULL,NULL),(44867,'NCBI Gene PubMed Count',NULL,17253,NULL,NULL,NULL,12,NULL,NULL,NULL),(44868,'NCBI Gene PubMed Count',NULL,17254,NULL,NULL,NULL,24,NULL,NULL,NULL),(44869,'NCBI Gene PubMed Count',NULL,17255,NULL,NULL,NULL,11,NULL,NULL,NULL),(44870,'NCBI Gene PubMed Count',NULL,17256,NULL,NULL,NULL,16,NULL,NULL,NULL),(44871,'NCBI Gene Summary',NULL,17257,NULL,'Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44872,'NCBI Gene PubMed Count',NULL,17257,NULL,NULL,NULL,40,NULL,NULL,NULL),(44873,'NCBI Gene Summary',NULL,17258,NULL,'This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(44874,'NCBI Gene PubMed Count',NULL,17258,NULL,NULL,NULL,29,NULL,NULL,NULL),(44875,'NCBI Gene Summary',NULL,17259,NULL,'This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(44876,'NCBI Gene PubMed Count',NULL,17259,NULL,NULL,NULL,26,NULL,NULL,NULL),(44877,'NCBI Gene Summary',NULL,17260,NULL,'This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(44878,'NCBI Gene PubMed Count',NULL,17260,NULL,NULL,NULL,23,NULL,NULL,NULL),(44879,'NCBI Gene Summary',NULL,17261,NULL,'This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degradation of macromolecules. The protein encoded by this gene is thought to be secreted, and to function in extracellular space. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(44880,'NCBI Gene PubMed Count',NULL,17261,NULL,NULL,NULL,10,NULL,NULL,NULL),(44881,'NCBI Gene Summary',NULL,17262,NULL,'This gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein signals through the RET receptor and GFR alpha 3 coreceptor, and supports the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. This protein has also been shown to promote tumor growth, metastasis, and drug resistance in mammary carcinoma. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(44882,'NCBI Gene PubMed Count',NULL,17262,NULL,NULL,NULL,37,NULL,NULL,NULL),(44883,'NCBI Gene PubMed Count',NULL,17263,NULL,NULL,NULL,24,NULL,NULL,NULL),(44884,'NCBI Gene Summary',NULL,17264,NULL,'Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(44885,'NCBI Gene PubMed Count',NULL,17264,NULL,NULL,NULL,34,NULL,NULL,NULL),(44886,'NCBI Gene Summary',NULL,17265,NULL,'This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(44887,'NCBI Gene PubMed Count',NULL,17265,NULL,NULL,NULL,85,NULL,NULL,NULL),(44888,'NCBI Gene Summary',NULL,17266,NULL,'This locus represents naturally occurring read-through transcription between the neighboring GPR75 (G protein-coupled receptor 75) and ASB3 (ankyrin repeat and SOCS box containing 3) on chromosome 2. The transcript includes exons from both GPR75 and ASB3 and translation initiates in the 5\' non-coding exon of GPR75. The resulting protein has a novel N-terminus but is otherwise identical to that encoded by ASB3.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(44889,'NCBI Gene PubMed Count',NULL,17266,NULL,NULL,NULL,4,NULL,NULL,NULL),(44890,'NCBI Gene Summary',NULL,17267,NULL,'This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(44891,'NCBI Gene PubMed Count',NULL,17267,NULL,NULL,NULL,46,NULL,NULL,NULL),(44892,'NCBI Gene Summary',NULL,17268,NULL,'The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44893,'NCBI Gene PubMed Count',NULL,17268,NULL,NULL,NULL,11,NULL,NULL,NULL),(44894,'NCBI Gene PubMed Count',NULL,17269,NULL,NULL,NULL,10,NULL,NULL,NULL),(44895,'NCBI Gene Summary',NULL,17270,NULL,'This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(44896,'NCBI Gene PubMed Count',NULL,17270,NULL,NULL,NULL,19,NULL,NULL,NULL),(44897,'NCBI Gene Summary',NULL,17271,NULL,'The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(44898,'NCBI Gene PubMed Count',NULL,17271,NULL,NULL,NULL,9,NULL,NULL,NULL),(44899,'NCBI Gene Summary',NULL,17272,NULL,'The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(44900,'NCBI Gene PubMed Count',NULL,17272,NULL,NULL,NULL,12,NULL,NULL,NULL),(44901,'NCBI Gene Summary',NULL,17273,NULL,'This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(44902,'NCBI Gene PubMed Count',NULL,17273,NULL,NULL,NULL,89,NULL,NULL,NULL),(44903,'NCBI Gene PubMed Count',NULL,17274,NULL,NULL,NULL,4,NULL,NULL,NULL),(44904,'NCBI Gene Summary',NULL,17275,NULL,'Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(44905,'NCBI Gene PubMed Count',NULL,17275,NULL,NULL,NULL,149,NULL,NULL,NULL),(44906,'NCBI Gene Summary',NULL,17276,NULL,'ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44907,'NCBI Gene PubMed Count',NULL,17276,NULL,NULL,NULL,18,NULL,NULL,NULL),(44908,'NCBI Gene Summary',NULL,17277,NULL,'Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(44909,'NCBI Gene PubMed Count',NULL,17277,NULL,NULL,NULL,74,NULL,NULL,NULL),(44910,'NCBI Gene PubMed Count',NULL,17278,NULL,NULL,NULL,21,NULL,NULL,NULL),(44911,'NCBI Gene Summary',NULL,17279,NULL,'This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(44912,'NCBI Gene PubMed Count',NULL,17279,NULL,NULL,NULL,101,NULL,NULL,NULL),(44913,'NCBI Gene Summary',NULL,17280,NULL,'The protein encoded by this gene belongs to the sulfotransferase 2 family. It is predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44914,'NCBI Gene PubMed Count',NULL,17280,NULL,NULL,NULL,14,NULL,NULL,NULL),(44915,'NCBI Gene Summary',NULL,17281,NULL,'The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44916,'NCBI Gene PubMed Count',NULL,17281,NULL,NULL,NULL,12,NULL,NULL,NULL),(44917,'NCBI Gene Summary',NULL,17282,NULL,'The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5\' UTRs have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44918,'NCBI Gene PubMed Count',NULL,17282,NULL,NULL,NULL,15,NULL,NULL,NULL),(44919,'NCBI Gene Summary',NULL,17283,NULL,'Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(44920,'NCBI Gene PubMed Count',NULL,17283,NULL,NULL,NULL,17,NULL,NULL,NULL),(44921,'NCBI Gene PubMed Count',NULL,17284,NULL,NULL,NULL,7,NULL,NULL,NULL),(44922,'NCBI Gene PubMed Count',NULL,17285,NULL,NULL,NULL,6,NULL,NULL,NULL),(44923,'NCBI Gene PubMed Count',NULL,17286,NULL,NULL,NULL,3,NULL,NULL,NULL),(44924,'NCBI Gene PubMed Count',NULL,17287,NULL,NULL,NULL,2,NULL,NULL,NULL),(44925,'NCBI Gene PubMed Count',NULL,17288,NULL,NULL,NULL,7,NULL,NULL,NULL),(44926,'NCBI Gene PubMed Count',NULL,17289,NULL,NULL,NULL,1,NULL,NULL,NULL),(44927,'NCBI Gene PubMed Count',NULL,17290,NULL,NULL,NULL,2,NULL,NULL,NULL),(44928,'NCBI Gene PubMed Count',NULL,17291,NULL,NULL,NULL,9,NULL,NULL,NULL),(44929,'NCBI Gene PubMed Count',NULL,17292,NULL,NULL,NULL,2,NULL,NULL,NULL),(44930,'NCBI Gene PubMed Count',NULL,17293,NULL,NULL,NULL,3,NULL,NULL,NULL),(44931,'NCBI Gene PubMed Count',NULL,17294,NULL,NULL,NULL,3,NULL,NULL,NULL),(44932,'NCBI Gene Summary',NULL,17295,NULL,'This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(44933,'NCBI Gene PubMed Count',NULL,17295,NULL,NULL,NULL,21,NULL,NULL,NULL),(44934,'NCBI Gene PubMed Count',NULL,17296,NULL,NULL,NULL,7,NULL,NULL,NULL),(44935,'NCBI Gene Summary',NULL,17297,NULL,'The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(44936,'NCBI Gene PubMed Count',NULL,17297,NULL,NULL,NULL,118,NULL,NULL,NULL),(44937,'NCBI Gene Summary',NULL,17298,NULL,'The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(44938,'NCBI Gene PubMed Count',NULL,17298,NULL,NULL,NULL,23,NULL,NULL,NULL),(44939,'NCBI Gene Summary',NULL,17299,NULL,'This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(44940,'NCBI Gene PubMed Count',NULL,17299,NULL,NULL,NULL,4,NULL,NULL,NULL),(44941,'NCBI Gene PubMed Count',NULL,17300,NULL,NULL,NULL,5,NULL,NULL,NULL),(44942,'NCBI Gene Summary',NULL,17301,NULL,'Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(44943,'NCBI Gene PubMed Count',NULL,17301,NULL,NULL,NULL,23,NULL,NULL,NULL),(44944,'NCBI Gene Summary',NULL,17302,NULL,'Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44945,'NCBI Gene PubMed Count',NULL,17302,NULL,NULL,NULL,1,NULL,NULL,NULL),(44946,'NCBI Gene Summary',NULL,17303,NULL,'This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(44947,'NCBI Gene PubMed Count',NULL,17303,NULL,NULL,NULL,28,NULL,NULL,NULL),(44948,'NCBI Gene Summary',NULL,17304,NULL,'this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(44949,'NCBI Gene PubMed Count',NULL,17304,NULL,NULL,NULL,13,NULL,NULL,NULL),(44950,'NCBI Gene Summary',NULL,17305,NULL,'This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(44951,'NCBI Gene PubMed Count',NULL,17305,NULL,NULL,NULL,37,NULL,NULL,NULL),(44952,'NCBI Gene Summary',NULL,17306,NULL,'AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44953,'NCBI Gene PubMed Count',NULL,17306,NULL,NULL,NULL,83,NULL,NULL,NULL),(44954,'NCBI Gene Summary',NULL,17307,NULL,'Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(44955,'NCBI Gene PubMed Count',NULL,17307,NULL,NULL,NULL,29,NULL,NULL,NULL),(44956,'NCBI Gene Summary',NULL,17308,NULL,'This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(44957,'NCBI Gene PubMed Count',NULL,17308,NULL,NULL,NULL,231,NULL,NULL,NULL),(44958,'NCBI Gene Summary',NULL,17309,NULL,'This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second arylamine N-acetyltransferase gene (NAT1) is located near this gene (NAT2). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44959,'NCBI Gene PubMed Count',NULL,17309,NULL,NULL,NULL,676,NULL,NULL,NULL),(44960,'NCBI Gene Summary',NULL,17310,NULL,'This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(44961,'NCBI Gene PubMed Count',NULL,17310,NULL,NULL,NULL,79,NULL,NULL,NULL),(44962,'NCBI Gene Summary',NULL,17311,NULL,'The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44963,'NCBI Gene PubMed Count',NULL,17311,NULL,NULL,NULL,9,NULL,NULL,NULL),(44964,'NCBI Gene Summary',NULL,17312,NULL,'This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(44965,'NCBI Gene PubMed Count',NULL,17312,NULL,NULL,NULL,24,NULL,NULL,NULL),(44966,'NCBI Gene Summary',NULL,17313,NULL,'This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(44967,'NCBI Gene PubMed Count',NULL,17313,NULL,NULL,NULL,22,NULL,NULL,NULL),(44968,'NCBI Gene Summary',NULL,17314,NULL,'The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(44969,'NCBI Gene PubMed Count',NULL,17314,NULL,NULL,NULL,12,NULL,NULL,NULL),(44970,'NCBI Gene PubMed Count',NULL,17315,NULL,NULL,NULL,13,NULL,NULL,NULL),(44971,'NCBI Gene Summary',NULL,17316,NULL,'This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(44972,'NCBI Gene PubMed Count',NULL,17316,NULL,NULL,NULL,25,NULL,NULL,NULL),(44973,'NCBI Gene Summary',NULL,17317,NULL,'This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5\'-CANNTG-3\'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44974,'NCBI Gene PubMed Count',NULL,17317,NULL,NULL,NULL,85,NULL,NULL,NULL),(44975,'NCBI Gene Summary',NULL,17318,NULL,'Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44976,'NCBI Gene PubMed Count',NULL,17318,NULL,NULL,NULL,7,NULL,NULL,NULL),(44977,'NCBI Gene Summary',NULL,17319,NULL,'Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44978,'NCBI Gene PubMed Count',NULL,17319,NULL,NULL,NULL,10,NULL,NULL,NULL),(44979,'NCBI Gene Summary',NULL,17320,NULL,'This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44980,'NCBI Gene PubMed Count',NULL,17320,NULL,NULL,NULL,144,NULL,NULL,NULL),(44981,'NCBI Gene Summary',NULL,17321,NULL,'The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(44982,'NCBI Gene PubMed Count',NULL,17321,NULL,NULL,NULL,11,NULL,NULL,NULL),(44983,'NCBI Gene PubMed Count',NULL,17322,NULL,NULL,NULL,42,NULL,NULL,NULL),(44984,'NCBI Gene Summary',NULL,17323,NULL,'The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(44985,'NCBI Gene PubMed Count',NULL,17323,NULL,NULL,NULL,13,NULL,NULL,NULL),(44986,'NCBI Gene PubMed Count',NULL,17324,NULL,NULL,NULL,11,NULL,NULL,NULL),(44987,'NCBI Gene Summary',NULL,17325,NULL,'This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(44988,'NCBI Gene PubMed Count',NULL,17325,NULL,NULL,NULL,25,NULL,NULL,NULL),(44989,'NCBI Gene Summary',NULL,17326,NULL,'This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(44990,'NCBI Gene PubMed Count',NULL,17326,NULL,NULL,NULL,22,NULL,NULL,NULL),(44991,'NCBI Gene Summary',NULL,17327,NULL,'C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(44992,'NCBI Gene PubMed Count',NULL,17327,NULL,NULL,NULL,23,NULL,NULL,NULL),(44993,'NCBI Gene Summary',NULL,17328,NULL,'This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(44994,'NCBI Gene PubMed Count',NULL,17328,NULL,NULL,NULL,44,NULL,NULL,NULL),(44995,'NCBI Gene Summary',NULL,17329,NULL,'This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44996,'NCBI Gene PubMed Count',NULL,17329,NULL,NULL,NULL,160,NULL,NULL,NULL),(44997,'NCBI Gene Summary',NULL,17330,NULL,'Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3\'UTR of the third exon.  The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles.  Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(44998,'NCBI Gene PubMed Count',NULL,17330,NULL,NULL,NULL,196,NULL,NULL,NULL),(44999,'NCBI Gene PubMed Count',NULL,17331,NULL,NULL,NULL,114,NULL,NULL,NULL),(45000,'NCBI Gene PubMed Count',NULL,17332,NULL,NULL,NULL,7,NULL,NULL,NULL),(45001,'NCBI Gene PubMed Count',NULL,17333,NULL,NULL,NULL,10,NULL,NULL,NULL),(45002,'NCBI Gene Summary',NULL,17334,NULL,'This gene encodes a member of the G protein-coupled receptor kinase family of proteins. The encoded protein phosphorylates the beta-adrenergic receptor as well as a wide range of other substrates including non-GPCR cell surface receptors, and cytoskeletal, mitochondrial, and transcription factor proteins. Data from rodent models supports a role for this gene in embryonic development, heart function and metabolism. Elevated expression of this gene has been observed in human patients with heart failure and Alzheimer\'s disease. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(45003,'NCBI Gene PubMed Count',NULL,17334,NULL,NULL,NULL,197,NULL,NULL,NULL),(45004,'NCBI Gene PubMed Count',NULL,17335,NULL,NULL,NULL,26,NULL,NULL,NULL),(45005,'NCBI Gene Summary',NULL,17336,NULL,'This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45006,'NCBI Gene PubMed Count',NULL,17336,NULL,NULL,NULL,191,NULL,NULL,NULL),(45007,'NCBI Gene Summary',NULL,17337,NULL,'This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45008,'NCBI Gene PubMed Count',NULL,17337,NULL,NULL,NULL,39,NULL,NULL,NULL),(45009,'NCBI Gene Summary',NULL,17338,NULL,'Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45010,'NCBI Gene PubMed Count',NULL,17338,NULL,NULL,NULL,3,NULL,NULL,NULL),(45011,'NCBI Gene Summary',NULL,17339,NULL,'This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(45012,'NCBI Gene PubMed Count',NULL,17339,NULL,NULL,NULL,13,NULL,NULL,NULL),(45013,'NCBI Gene PubMed Count',NULL,17340,NULL,NULL,NULL,8,NULL,NULL,NULL),(45014,'NCBI Gene Summary',NULL,17341,NULL,'This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(45015,'NCBI Gene PubMed Count',NULL,17341,NULL,NULL,NULL,227,NULL,NULL,NULL),(45016,'NCBI Gene PubMed Count',NULL,17342,NULL,NULL,NULL,19,NULL,NULL,NULL),(45017,'NCBI Gene PubMed Count',NULL,17343,NULL,NULL,NULL,21,NULL,NULL,NULL),(45018,'NCBI Gene Summary',NULL,17344,NULL,'The protein encoded by this gene belongs to the Gal/GalNAc/GlcNAc 6-O-sulfotransferase (GST) family, members of which catalyze the transfer of sulfate to position 6 of galactose (Gal), N-acetylgalactosamine (GalNAc), or N-acetylglucosamine (GlcNAc) residues within proteoglycans, and sulfation of O-linked sugars of mucin-type acceptors. Carbohydrate sulfation plays a critical role in many biologic processes. This gene is predominantly expressed in colon and small intestine. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(45019,'NCBI Gene PubMed Count',NULL,17344,NULL,NULL,NULL,18,NULL,NULL,NULL),(45020,'NCBI Gene Summary',NULL,17345,NULL,'This gene is a member of the Gal/GalNAc/GlcNAc (galactose/N-acetylgalactosamine/N-acetylglucosamine) 6-O-sulfotransferase (GST) family. Members of this family encode enzymes that catalyze the specific addition of sulfate groups to distinct hydroxyl and amino groups of carbohydrates. The encoded protein catalyzes the sulfation of 6-hydroxyl group of GalNAc in chondroitin. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(45021,'NCBI Gene PubMed Count',NULL,17345,NULL,NULL,NULL,11,NULL,NULL,NULL),(45022,'NCBI Gene Summary',NULL,17346,NULL,'The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(45023,'NCBI Gene PubMed Count',NULL,17346,NULL,NULL,NULL,5,NULL,NULL,NULL),(45024,'NCBI Gene Summary',NULL,17347,NULL,'This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(45025,'NCBI Gene PubMed Count',NULL,17347,NULL,NULL,NULL,14,NULL,NULL,NULL),(45026,'NCBI Gene PubMed Count',NULL,17348,NULL,NULL,NULL,5,NULL,NULL,NULL),(45027,'NCBI Gene PubMed Count',NULL,17349,NULL,NULL,NULL,4,NULL,NULL,NULL),(45028,'NCBI Gene Summary',NULL,17350,NULL,'This transcribed locus is thought to be non-coding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(45029,'NCBI Gene PubMed Count',NULL,17350,NULL,NULL,NULL,4,NULL,NULL,NULL),(45030,'NCBI Gene PubMed Count',NULL,17351,NULL,NULL,NULL,6,NULL,NULL,NULL),(45031,'NCBI Gene PubMed Count',NULL,17352,NULL,NULL,NULL,4,NULL,NULL,NULL),(45032,'NCBI Gene PubMed Count',NULL,17353,NULL,NULL,NULL,6,NULL,NULL,NULL),(45033,'NCBI Gene PubMed Count',NULL,17354,NULL,NULL,NULL,3,NULL,NULL,NULL),(45034,'NCBI Gene Summary',NULL,17355,NULL,'The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5\' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(45035,'NCBI Gene PubMed Count',NULL,17355,NULL,NULL,NULL,368,NULL,NULL,NULL),(45036,'NCBI Gene PubMed Count',NULL,17356,NULL,NULL,NULL,18,NULL,NULL,NULL),(45037,'NCBI Gene PubMed Count',NULL,17357,NULL,NULL,NULL,2,NULL,NULL,NULL),(45038,'NCBI Gene PubMed Count',NULL,17358,NULL,NULL,NULL,12,NULL,NULL,NULL),(45039,'NCBI Gene Summary',NULL,17359,NULL,'This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(45040,'NCBI Gene PubMed Count',NULL,17359,NULL,NULL,NULL,18,NULL,NULL,NULL),(45041,'NCBI Gene PubMed Count',NULL,17360,NULL,NULL,NULL,4,NULL,NULL,NULL),(45042,'NCBI Gene Summary',NULL,17361,NULL,'This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45043,'NCBI Gene PubMed Count',NULL,17361,NULL,NULL,NULL,17,NULL,NULL,NULL),(45044,'NCBI Gene Summary',NULL,17362,NULL,'This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(45045,'NCBI Gene PubMed Count',NULL,17362,NULL,NULL,NULL,25,NULL,NULL,NULL),(45046,'NCBI Gene Summary',NULL,17363,NULL,'ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45047,'NCBI Gene PubMed Count',NULL,17363,NULL,NULL,NULL,43,NULL,NULL,NULL),(45048,'NCBI Gene PubMed Count',NULL,17364,NULL,NULL,NULL,13,NULL,NULL,NULL),(45049,'NCBI Gene Summary',NULL,17365,NULL,'This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(45050,'NCBI Gene PubMed Count',NULL,17365,NULL,NULL,NULL,207,NULL,NULL,NULL),(45051,'NCBI Gene Summary',NULL,17366,NULL,'This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(45052,'NCBI Gene PubMed Count',NULL,17366,NULL,NULL,NULL,45,NULL,NULL,NULL),(45053,'NCBI Gene Summary',NULL,17367,NULL,'This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45054,'NCBI Gene PubMed Count',NULL,17367,NULL,NULL,NULL,15,NULL,NULL,NULL),(45055,'NCBI Gene Summary',NULL,17368,NULL,'This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5\' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(45056,'NCBI Gene PubMed Count',NULL,17368,NULL,NULL,NULL,11,NULL,NULL,NULL),(45057,'NCBI Gene PubMed Count',NULL,17369,NULL,NULL,NULL,1,NULL,NULL,NULL),(45058,'NCBI Gene PubMed Count',NULL,17370,NULL,NULL,NULL,0,NULL,NULL,NULL),(45059,'NCBI Gene Summary',NULL,17371,NULL,'This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(45060,'NCBI Gene PubMed Count',NULL,17371,NULL,NULL,NULL,29,NULL,NULL,NULL),(45061,'NCBI Gene Summary',NULL,17372,NULL,'ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45062,'NCBI Gene PubMed Count',NULL,17372,NULL,NULL,NULL,15,NULL,NULL,NULL),(45063,'NCBI Gene Summary',NULL,17373,NULL,'This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(45064,'NCBI Gene PubMed Count',NULL,17373,NULL,NULL,NULL,48,NULL,NULL,NULL),(45065,'NCBI Gene Summary',NULL,17374,NULL,'The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). This protein has been shown to have an inhibitory role in the cellular antiviral response. This gene product interacts with the C-terminal domain of the DEXD/H-box helicase 58 (DDX58) gene product. This interaction was found to suppress the association between the DDX58 gene product and RNA, thereby negatively regulating the activity of the DDX58 gene product. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(45066,'NCBI Gene PubMed Count',NULL,17374,NULL,NULL,NULL,7,NULL,NULL,NULL),(45067,'NCBI Gene PubMed Count',NULL,17375,NULL,NULL,NULL,5,NULL,NULL,NULL),(45068,'NCBI Gene Summary',NULL,17376,NULL,'The function of this gene\'s protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(45069,'NCBI Gene PubMed Count',NULL,17376,NULL,NULL,NULL,6,NULL,NULL,NULL),(45070,'NCBI Gene PubMed Count',NULL,17377,NULL,NULL,NULL,9,NULL,NULL,NULL),(45071,'NCBI Gene Summary',NULL,17378,NULL,'This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(45072,'NCBI Gene PubMed Count',NULL,17378,NULL,NULL,NULL,160,NULL,NULL,NULL),(45073,'NCBI Gene PubMed Count',NULL,17379,NULL,NULL,NULL,8,NULL,NULL,NULL),(45074,'NCBI Gene Summary',NULL,17381,NULL,'This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45075,'NCBI Gene PubMed Count',NULL,17381,NULL,NULL,NULL,139,NULL,NULL,NULL),(45076,'NCBI Gene Summary',NULL,17382,NULL,'This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45077,'NCBI Gene PubMed Count',NULL,17382,NULL,NULL,NULL,13,NULL,NULL,NULL),(45078,'NCBI Gene PubMed Count',NULL,17383,NULL,NULL,NULL,19,NULL,NULL,NULL),(45079,'NCBI Gene Summary',NULL,17384,NULL,'This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45080,'NCBI Gene PubMed Count',NULL,17384,NULL,NULL,NULL,14,NULL,NULL,NULL),(45081,'NCBI Gene Summary',NULL,17385,NULL,'This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(45082,'NCBI Gene PubMed Count',NULL,17385,NULL,NULL,NULL,13,NULL,NULL,NULL),(45083,'NCBI Gene Summary',NULL,17386,NULL,'This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(45084,'NCBI Gene PubMed Count',NULL,17386,NULL,NULL,NULL,13,NULL,NULL,NULL),(45085,'NCBI Gene Summary',NULL,17387,NULL,'This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(45086,'NCBI Gene PubMed Count',NULL,17387,NULL,NULL,NULL,30,NULL,NULL,NULL),(45087,'NCBI Gene Summary',NULL,17388,NULL,'Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(45088,'NCBI Gene PubMed Count',NULL,17388,NULL,NULL,NULL,97,NULL,NULL,NULL),(45089,'NCBI Gene Summary',NULL,17389,NULL,'This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5\' exons. Some transcripts contain a differentially methylated region (DMR) at their 5\' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(45090,'NCBI Gene PubMed Count',NULL,17389,NULL,NULL,NULL,462,NULL,NULL,NULL),(45091,'NCBI Gene Summary',NULL,17390,NULL,'This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(45092,'NCBI Gene PubMed Count',NULL,17390,NULL,NULL,NULL,228,NULL,NULL,NULL),(45093,'NCBI Gene Summary',NULL,17391,NULL,'Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45094,'NCBI Gene PubMed Count',NULL,17391,NULL,NULL,NULL,32,NULL,NULL,NULL),(45095,'NCBI Gene Summary',NULL,17392,NULL,'The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(45096,'NCBI Gene PubMed Count',NULL,17392,NULL,NULL,NULL,18,NULL,NULL,NULL),(45097,'NCBI Gene Summary',NULL,17393,NULL,'This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(45098,'NCBI Gene PubMed Count',NULL,17393,NULL,NULL,NULL,27,NULL,NULL,NULL),(45099,'NCBI Gene Summary',NULL,17394,NULL,'The protein encoded by this gene, along with IMP3 and MPP10, is part of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP) complex. This complex is necessary for the early cleavage steps of pre-18S ribosomal RNA processing. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(45100,'NCBI Gene PubMed Count',NULL,17394,NULL,NULL,NULL,14,NULL,NULL,NULL),(45101,'NCBI Gene Summary',NULL,17395,NULL,'This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45102,'NCBI Gene PubMed Count',NULL,17395,NULL,NULL,NULL,32,NULL,NULL,NULL),(45103,'NCBI Gene Summary',NULL,17396,NULL,'Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(45104,'NCBI Gene PubMed Count',NULL,17396,NULL,NULL,NULL,23,NULL,NULL,NULL),(45105,'NCBI Gene Summary',NULL,17397,NULL,'The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(45106,'NCBI Gene PubMed Count',NULL,17397,NULL,NULL,NULL,51,NULL,NULL,NULL),(45107,'NCBI Gene Summary',NULL,17398,NULL,'This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(45108,'NCBI Gene PubMed Count',NULL,17398,NULL,NULL,NULL,54,NULL,NULL,NULL),(45109,'NCBI Gene Summary',NULL,17399,NULL,'This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(45110,'NCBI Gene PubMed Count',NULL,17399,NULL,NULL,NULL,31,NULL,NULL,NULL),(45111,'NCBI Gene Summary',NULL,17400,NULL,'This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(45112,'NCBI Gene PubMed Count',NULL,17400,NULL,NULL,NULL,9,NULL,NULL,NULL),(45113,'NCBI Gene Summary',NULL,17401,NULL,'In non-hominoid primates and non-mammalian vertebrates, the gonadotropin releasing hormone 2 receptor gene (GnRHR2) encodes a seven-transmembrane G-protein coupled receptor. However, in human, the corresponding reading frame contains a premature stop codon, which has been suggested to encode a selenocysteine residue, but there is no solid evidence for selenocysteine incorporation (PMID: 12538601). It appears that the human GnRHR2 transcription occurs but the gene does not likely produce a functional multi-transmembrane protein. A non-transcribed pseudogene of GnRHR2 is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(45114,'NCBI Gene PubMed Count',NULL,17401,NULL,NULL,NULL,19,NULL,NULL,NULL),(45115,'NCBI Gene PubMed Count',NULL,17402,NULL,NULL,NULL,8,NULL,NULL,NULL),(45116,'NCBI Gene PubMed Count',NULL,17403,NULL,NULL,NULL,6,NULL,NULL,NULL),(45117,'NCBI Gene PubMed Count',NULL,17404,NULL,NULL,NULL,3,NULL,NULL,NULL),(45118,'NCBI Gene PubMed Count',NULL,17405,NULL,NULL,NULL,4,NULL,NULL,NULL),(45119,'NCBI Gene PubMed Count',NULL,17406,NULL,NULL,NULL,3,NULL,NULL,NULL),(45120,'NCBI Gene PubMed Count',NULL,17407,NULL,NULL,NULL,2,NULL,NULL,NULL),(45121,'NCBI Gene PubMed Count',NULL,17408,NULL,NULL,NULL,1,NULL,NULL,NULL),(45122,'NCBI Gene PubMed Count',NULL,17409,NULL,NULL,NULL,1,NULL,NULL,NULL),(45123,'NCBI Gene Summary',NULL,17410,NULL,'The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(45124,'NCBI Gene PubMed Count',NULL,17410,NULL,NULL,NULL,21,NULL,NULL,NULL),(45125,'NCBI Gene Summary',NULL,17411,NULL,'The protein encoded by this gene has been shown to be upregulated in SV40-immortalized fibroblasts as well as in endometrial carcinoma cells. The encoded protein is found primarily in the nucleus. This protein may play a role in placental development and diseases such as pre-eclampsia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(45126,'NCBI Gene PubMed Count',NULL,17411,NULL,NULL,NULL,14,NULL,NULL,NULL),(45127,'NCBI Gene PubMed Count',NULL,17412,NULL,NULL,NULL,11,NULL,NULL,NULL),(45128,'NCBI Gene PubMed Count',NULL,17413,NULL,NULL,NULL,4,NULL,NULL,NULL),(45129,'NCBI Gene PubMed Count',NULL,17414,NULL,NULL,NULL,3,NULL,NULL,NULL),(45130,'NCBI Gene PubMed Count',NULL,17415,NULL,NULL,NULL,4,NULL,NULL,NULL),(45131,'NCBI Gene Summary',NULL,17416,NULL,'The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. Multiple transcript variants encoding at least two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45132,'NCBI Gene PubMed Count',NULL,17416,NULL,NULL,NULL,101,NULL,NULL,NULL),(45133,'NCBI Gene Summary',NULL,17417,NULL,'This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(45134,'NCBI Gene PubMed Count',NULL,17417,NULL,NULL,NULL,20,NULL,NULL,NULL),(45135,'NCBI Gene PubMed Count',NULL,17418,NULL,NULL,NULL,12,NULL,NULL,NULL),(45136,'NCBI Gene Summary',NULL,17419,NULL,'This gene encodes a member of the rhodopsin family of G-protein-coupled receptors. The encoded protein is almost exclusively expressed in the central nervous system. L-tryptophan and L-phenylalanine may act as the physiologic ligands of the encoded protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(45137,'NCBI Gene PubMed Count',NULL,17419,NULL,NULL,NULL,13,NULL,NULL,NULL),(45138,'NCBI Gene Summary',NULL,17420,NULL,'GPR142 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45139,'NCBI Gene PubMed Count',NULL,17420,NULL,NULL,NULL,6,NULL,NULL,NULL),(45140,'NCBI Gene PubMed Count',NULL,17421,NULL,NULL,NULL,9,NULL,NULL,NULL),(45141,'NCBI Gene Summary',NULL,17422,NULL,'This gene encodes a member of the G-protein coupled receptor 1 family. This protein contains 7 transmembrane domains and conserved cysteine residues. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(45142,'NCBI Gene PubMed Count',NULL,17422,NULL,NULL,NULL,8,NULL,NULL,NULL),(45143,'NCBI Gene Summary',NULL,17423,NULL,'This gene encodes a protein belonging to the G protein-coupled receptor superfamily. These proteins are characterized by the presence of seven alpha-helical transmembrane domains, and they activate or interact with various endogenous or exogenous ligands, including neurotransmitters, hormones, and odorant and taste substances. This family member is classified as an orphan receptor because the cognate ligand has not been identified. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(45144,'NCBI Gene PubMed Count',NULL,17423,NULL,NULL,NULL,14,NULL,NULL,NULL),(45145,'NCBI Gene Summary',NULL,17424,NULL,'This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. The encoded protein also plays a role in eye, tooth and testis development. Elevated expression of this gene may be associated with cancer cachexia in human patients. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(45146,'NCBI Gene PubMed Count',NULL,17424,NULL,NULL,NULL,253,NULL,NULL,NULL),(45147,'NCBI Gene PubMed Count',NULL,17425,NULL,NULL,NULL,6,NULL,NULL,NULL),(45148,'NCBI Gene Summary',NULL,17426,NULL,'This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(45149,'NCBI Gene PubMed Count',NULL,17426,NULL,NULL,NULL,7,NULL,NULL,NULL),(45150,'NCBI Gene PubMed Count',NULL,17427,NULL,NULL,NULL,14,NULL,NULL,NULL),(45151,'NCBI Gene Summary',NULL,17428,NULL,'G protein-coupled receptors (GPCRs) are a large superfamily of cell surface receptors characterized by 7 helical transmembrane domains, together with N-terminal extracellular and C-terminal intracellular domains.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45152,'NCBI Gene PubMed Count',NULL,17428,NULL,NULL,NULL,7,NULL,NULL,NULL),(45153,'NCBI Gene Summary',NULL,17429,NULL,'This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. Polymorphisms near this gene are associated with pre-eclampsia in female human patients. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(45154,'NCBI Gene PubMed Count',NULL,17429,NULL,NULL,NULL,111,NULL,NULL,NULL),(45155,'NCBI Gene PubMed Count',NULL,17430,NULL,NULL,NULL,15,NULL,NULL,NULL),(45156,'NCBI Gene PubMed Count',NULL,17431,NULL,NULL,NULL,9,NULL,NULL,NULL),(45157,'NCBI Gene Summary',NULL,17432,NULL,'The protein encoded by this gene is an orphan G protein-coupled receptor whose ligand is unknown. This gene is overexpressed in triple-negative breast cancer, and disruption of this gene slows the proliferation of basal breast cancer cells. Therefore, this gene is a potential drug target for triple-negative breast cancer. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(45158,'NCBI Gene PubMed Count',NULL,17432,NULL,NULL,NULL,13,NULL,NULL,NULL),(45159,'NCBI Gene Summary',NULL,17433,NULL,'Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45160,'NCBI Gene PubMed Count',NULL,17433,NULL,NULL,NULL,20,NULL,NULL,NULL),(45161,'NCBI Gene Summary',NULL,17434,NULL,'This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(45162,'NCBI Gene PubMed Count',NULL,17434,NULL,NULL,NULL,49,NULL,NULL,NULL),(45163,'NCBI Gene Summary',NULL,17435,NULL,'The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45164,'NCBI Gene PubMed Count',NULL,17435,NULL,NULL,NULL,16,NULL,NULL,NULL),(45165,'NCBI Gene Summary',NULL,17436,NULL,'The protein encoded by this gene is a member of the G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45166,'NCBI Gene PubMed Count',NULL,17436,NULL,NULL,NULL,8,NULL,NULL,NULL),(45167,'NCBI Gene Summary',NULL,17437,NULL,'This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(45168,'NCBI Gene PubMed Count',NULL,17437,NULL,NULL,NULL,23,NULL,NULL,NULL),(45169,'NCBI Gene Summary',NULL,17438,NULL,'The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(45170,'NCBI Gene PubMed Count',NULL,17438,NULL,NULL,NULL,32,NULL,NULL,NULL),(45171,'NCBI Gene Summary',NULL,17439,NULL,'This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45172,'NCBI Gene PubMed Count',NULL,17439,NULL,NULL,NULL,61,NULL,NULL,NULL),(45173,'NCBI Gene Summary',NULL,17440,NULL,'This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(45174,'NCBI Gene PubMed Count',NULL,17440,NULL,NULL,NULL,11,NULL,NULL,NULL),(45175,'NCBI Gene PubMed Count',NULL,17441,NULL,NULL,NULL,13,NULL,NULL,NULL),(45176,'NCBI Gene PubMed Count',NULL,17442,NULL,NULL,NULL,28,NULL,NULL,NULL),(45177,'NCBI Gene Summary',NULL,17443,NULL,'This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(45178,'NCBI Gene PubMed Count',NULL,17443,NULL,NULL,NULL,32,NULL,NULL,NULL),(45179,'NCBI Gene PubMed Count',NULL,17444,NULL,NULL,NULL,4,NULL,NULL,NULL),(45180,'NCBI Gene Summary',NULL,17445,NULL,'Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45181,'NCBI Gene PubMed Count',NULL,17445,NULL,NULL,NULL,70,NULL,NULL,NULL),(45182,'NCBI Gene Summary',NULL,17446,NULL,'Protein phosphatase-1 (PP1) is one of the main eukaryotic serine/threonine phosphatases. The protein encoded by this gene binds to the catalytic subunit of PP1, strongly inhibiting its activity. Ten related pseudogenes have been found throughout the human genome. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45183,'NCBI Gene PubMed Count',NULL,17446,NULL,NULL,NULL,35,NULL,NULL,NULL),(45184,'NCBI Gene Summary',NULL,17447,NULL,'This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45185,'NCBI Gene PubMed Count',NULL,17447,NULL,NULL,NULL,26,NULL,NULL,NULL),(45186,'NCBI Gene Summary',NULL,17448,NULL,'This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(45187,'NCBI Gene PubMed Count',NULL,17448,NULL,NULL,NULL,24,NULL,NULL,NULL),(45188,'NCBI Gene Summary',NULL,17449,NULL,'Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45189,'NCBI Gene PubMed Count',NULL,17449,NULL,NULL,NULL,57,NULL,NULL,NULL),(45190,'NCBI Gene Summary',NULL,17450,NULL,'This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(45191,'NCBI Gene PubMed Count',NULL,17450,NULL,NULL,NULL,23,NULL,NULL,NULL),(45192,'NCBI Gene Summary',NULL,17451,NULL,'The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named \'lurcher\', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(45193,'NCBI Gene PubMed Count',NULL,17451,NULL,NULL,NULL,31,NULL,NULL,NULL),(45194,'NCBI Gene Summary',NULL,17452,NULL,'This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(45195,'NCBI Gene PubMed Count',NULL,17452,NULL,NULL,NULL,109,NULL,NULL,NULL),(45196,'NCBI Gene Summary',NULL,17453,NULL,'The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(45197,'NCBI Gene PubMed Count',NULL,17453,NULL,NULL,NULL,176,NULL,NULL,NULL),(45198,'NCBI Gene PubMed Count',NULL,17454,NULL,NULL,NULL,12,NULL,NULL,NULL),(45199,'NCBI Gene Summary',NULL,17455,NULL,'The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. This protein has an N-terminal signal peptide, three extracellular immunoglobulin Ig-like domains, a transmembrane domain, an intracellular Toll/IL-1R domain, and a long C-terminal tail which interacts with multiple signalling molecules. This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this gene were found in patients with intellectual disability. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities, and plays a role in synapse formation and stabilization. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(45200,'NCBI Gene PubMed Count',NULL,17455,NULL,NULL,NULL,38,NULL,NULL,NULL),(45201,'NCBI Gene Summary',NULL,17456,NULL,'The protein encoded by this gene is a member of the interleukin 1 receptor family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic cognitive disability. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45202,'NCBI Gene PubMed Count',NULL,17456,NULL,NULL,NULL,11,NULL,NULL,NULL),(45203,'NCBI Gene Summary',NULL,17457,NULL,'This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(45204,'NCBI Gene PubMed Count',NULL,17457,NULL,NULL,NULL,495,NULL,NULL,NULL),(45205,'NCBI Gene Summary',NULL,17458,NULL,'This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45206,'NCBI Gene PubMed Count',NULL,17458,NULL,NULL,NULL,207,NULL,NULL,NULL),(45207,'NCBI Gene Summary',NULL,17459,NULL,'IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45208,'NCBI Gene PubMed Count',NULL,17459,NULL,NULL,NULL,38,NULL,NULL,NULL),(45209,'NCBI Gene Summary',NULL,17460,NULL,'This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(45210,'NCBI Gene PubMed Count',NULL,17460,NULL,NULL,NULL,22,NULL,NULL,NULL),(45211,'NCBI Gene Summary',NULL,17461,NULL,'IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(45212,'NCBI Gene PubMed Count',NULL,17461,NULL,NULL,NULL,13,NULL,NULL,NULL),(45213,'NCBI Gene Summary',NULL,17462,NULL,'IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(45214,'NCBI Gene PubMed Count',NULL,17462,NULL,NULL,NULL,16,NULL,NULL,NULL),(45215,'NCBI Gene PubMed Count',NULL,17463,NULL,NULL,NULL,12,NULL,NULL,NULL),(45216,'NCBI Gene Summary',NULL,17464,NULL,'This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(45217,'NCBI Gene PubMed Count',NULL,17464,NULL,NULL,NULL,11,NULL,NULL,NULL),(45218,'NCBI Gene PubMed Count',NULL,17465,NULL,NULL,NULL,8,NULL,NULL,NULL),(45219,'NCBI Gene PubMed Count',NULL,17466,NULL,NULL,NULL,25,NULL,NULL,NULL),(45220,'NCBI Gene Summary',NULL,17467,NULL,'This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(45221,'NCBI Gene PubMed Count',NULL,17467,NULL,NULL,NULL,43,NULL,NULL,NULL),(45222,'NCBI Gene Summary',NULL,17468,NULL,'This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45223,'NCBI Gene PubMed Count',NULL,17468,NULL,NULL,NULL,32,NULL,NULL,NULL),(45224,'NCBI Gene Summary',NULL,17469,NULL,'The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(45225,'NCBI Gene PubMed Count',NULL,17469,NULL,NULL,NULL,17,NULL,NULL,NULL),(45226,'NCBI Gene PubMed Count',NULL,17470,NULL,NULL,NULL,16,NULL,NULL,NULL),(45227,'NCBI Gene PubMed Count',NULL,17471,NULL,NULL,NULL,3,NULL,NULL,NULL),(45228,'NCBI Gene Summary',NULL,17472,NULL,'The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(45229,'NCBI Gene PubMed Count',NULL,17472,NULL,NULL,NULL,85,NULL,NULL,NULL),(45230,'NCBI Gene Summary',NULL,17473,NULL,'This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(45231,'NCBI Gene PubMed Count',NULL,17473,NULL,NULL,NULL,30,NULL,NULL,NULL),(45232,'NCBI Gene Summary',NULL,17474,NULL,'This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45233,'NCBI Gene PubMed Count',NULL,17474,NULL,NULL,NULL,16,NULL,NULL,NULL),(45234,'NCBI Gene Summary',NULL,17475,NULL,'This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45235,'NCBI Gene PubMed Count',NULL,17475,NULL,NULL,NULL,50,NULL,NULL,NULL),(45236,'NCBI Gene Summary',NULL,17476,NULL,'The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45237,'NCBI Gene PubMed Count',NULL,17476,NULL,NULL,NULL,101,NULL,NULL,NULL),(45238,'NCBI Gene Summary',NULL,17477,NULL,'This gene encodes a protein that is important in mRNA degradation. The encoded protein is a component of a decapping complex that promotes efficient removal of the monomethylguanosine (m7G) cap from mRNAs, as part of the 5\' to 3\' mRNA decay pathway. Mutations in this gene have been identified in human patients with an autosomal recessive form of intellectual disability. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(45239,'NCBI Gene PubMed Count',NULL,17477,NULL,NULL,NULL,32,NULL,NULL,NULL),(45240,'NCBI Gene PubMed Count',NULL,17478,NULL,NULL,NULL,32,NULL,NULL,NULL),(45241,'NCBI Gene Summary',NULL,17479,NULL,'This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45242,'NCBI Gene PubMed Count',NULL,17479,NULL,NULL,NULL,790,NULL,NULL,NULL),(45243,'NCBI Gene Summary',NULL,17480,NULL,'This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(45244,'NCBI Gene PubMed Count',NULL,17480,NULL,NULL,NULL,199,NULL,NULL,NULL),(45245,'NCBI Gene Summary',NULL,17481,NULL,'The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(45246,'NCBI Gene PubMed Count',NULL,17481,NULL,NULL,NULL,215,NULL,NULL,NULL),(45247,'NCBI Gene Summary',NULL,17482,NULL,'This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45248,'NCBI Gene PubMed Count',NULL,17482,NULL,NULL,NULL,161,NULL,NULL,NULL),(45249,'NCBI Gene Summary',NULL,17483,NULL,'Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3\',5\'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(45250,'NCBI Gene PubMed Count',NULL,17483,NULL,NULL,NULL,20,NULL,NULL,NULL),(45251,'NCBI Gene Summary',NULL,17484,NULL,'This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(45252,'NCBI Gene PubMed Count',NULL,17484,NULL,NULL,NULL,31,NULL,NULL,NULL),(45253,'NCBI Gene PubMed Count',NULL,17485,NULL,NULL,NULL,5,NULL,NULL,NULL),(45254,'NCBI Gene Summary',NULL,17486,NULL,'This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(45255,'NCBI Gene PubMed Count',NULL,17486,NULL,NULL,NULL,72,NULL,NULL,NULL),(45256,'NCBI Gene Summary',NULL,17487,NULL,'This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5\' UTR. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45257,'NCBI Gene PubMed Count',NULL,17487,NULL,NULL,NULL,34,NULL,NULL,NULL),(45258,'NCBI Gene Summary',NULL,17488,NULL,'This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves\' disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45259,'NCBI Gene PubMed Count',NULL,17488,NULL,NULL,NULL,12,NULL,NULL,NULL),(45260,'NCBI Gene Summary',NULL,17489,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(45261,'NCBI Gene PubMed Count',NULL,17489,NULL,NULL,NULL,331,NULL,NULL,NULL),(45262,'NCBI Gene Summary',NULL,17490,NULL,'This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45263,'NCBI Gene PubMed Count',NULL,17490,NULL,NULL,NULL,43,NULL,NULL,NULL),(45264,'NCBI Gene Summary',NULL,17491,NULL,'This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45265,'NCBI Gene PubMed Count',NULL,17491,NULL,NULL,NULL,62,NULL,NULL,NULL),(45266,'NCBI Gene Summary',NULL,17492,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(45267,'NCBI Gene PubMed Count',NULL,17492,NULL,NULL,NULL,20,NULL,NULL,NULL),(45268,'NCBI Gene Summary',NULL,17493,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(45269,'NCBI Gene PubMed Count',NULL,17493,NULL,NULL,NULL,24,NULL,NULL,NULL),(45270,'NCBI Gene PubMed Count',NULL,17494,NULL,NULL,NULL,4,NULL,NULL,NULL),(45271,'NCBI Gene PubMed Count',NULL,17495,NULL,NULL,NULL,7,NULL,NULL,NULL),(45272,'NCBI Gene PubMed Count',NULL,17496,NULL,NULL,NULL,4,NULL,NULL,NULL),(45273,'NCBI Gene PubMed Count',NULL,17497,NULL,NULL,NULL,1,NULL,NULL,NULL),(45274,'NCBI Gene Summary',NULL,17498,NULL,'This gene encodes a protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a canonical twelve-residue sequence that coordinates a calcium molecule with pentagonal bipyramidal symmetry. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(45275,'NCBI Gene PubMed Count',NULL,17498,NULL,NULL,NULL,6,NULL,NULL,NULL),(45276,'NCBI Gene Summary',NULL,17499,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates ovarian function. Reduced expression of this gene may be associated with polycystic ovary syndrome and mutations in this gene may be more common in mothers of dizygotic twins. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(45277,'NCBI Gene PubMed Count',NULL,17499,NULL,NULL,NULL,93,NULL,NULL,NULL),(45278,'NCBI Gene Summary',NULL,17500,NULL,'GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45279,'NCBI Gene PubMed Count',NULL,17500,NULL,NULL,NULL,58,NULL,NULL,NULL),(45280,'NCBI Gene Summary',NULL,17501,NULL,'GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45281,'NCBI Gene PubMed Count',NULL,17501,NULL,NULL,NULL,27,NULL,NULL,NULL),(45282,'NCBI Gene Summary',NULL,17502,NULL,'The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(45283,'NCBI Gene PubMed Count',NULL,17502,NULL,NULL,NULL,15,NULL,NULL,NULL),(45284,'NCBI Gene Summary',NULL,17503,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(45285,'NCBI Gene PubMed Count',NULL,17503,NULL,NULL,NULL,193,NULL,NULL,NULL),(45286,'NCBI Gene Summary',NULL,17504,NULL,'This gene encodes a member of the glycerophosphodiester phosphodiesterase enzyme family. The encoded protein hydrolyzes glycerophosphoinositol to produce inositol 1-phosphate and glycerol. This protein may have a role in osteoblast differentiation and growth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(45287,'NCBI Gene PubMed Count',NULL,17504,NULL,NULL,NULL,10,NULL,NULL,NULL),(45288,'NCBI Gene PubMed Count',NULL,17505,NULL,NULL,NULL,10,NULL,NULL,NULL),(45289,'NCBI Gene PubMed Count',NULL,17506,NULL,NULL,NULL,2,NULL,NULL,NULL),(45290,'NCBI Gene Summary',NULL,17507,NULL,'Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(45291,'NCBI Gene PubMed Count',NULL,17507,NULL,NULL,NULL,15,NULL,NULL,NULL),(45292,'NCBI Gene PubMed Count',NULL,17508,NULL,NULL,NULL,3,NULL,NULL,NULL),(45293,'NCBI Gene Summary',NULL,17509,NULL,'The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(45294,'NCBI Gene PubMed Count',NULL,17509,NULL,NULL,NULL,32,NULL,NULL,NULL),(45295,'NCBI Gene PubMed Count',NULL,17510,NULL,NULL,NULL,5,NULL,NULL,NULL),(45296,'NCBI Gene Summary',NULL,17511,NULL,'This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(45297,'NCBI Gene PubMed Count',NULL,17511,NULL,NULL,NULL,36,NULL,NULL,NULL),(45298,'NCBI Gene PubMed Count',NULL,17512,NULL,NULL,NULL,4,NULL,NULL,NULL),(45299,'NCBI Gene PubMed Count',NULL,17513,NULL,NULL,NULL,5,NULL,NULL,NULL),(45300,'NCBI Gene Summary',NULL,17514,NULL,'The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear \"gems\" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45301,'NCBI Gene PubMed Count',NULL,17514,NULL,NULL,NULL,17,NULL,NULL,NULL),(45302,'NCBI Gene Summary',NULL,17515,NULL,'This gene encodes a member of the lysine-specific methyltransferase (KMT) family. The encoded enzyme catalyzes the methylation of lysine-36 of the eukaryotic translation elongation factor 1 alpha. Methylation by this enzyme may affect endoplasmic reticulum-related processes. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(45303,'NCBI Gene PubMed Count',NULL,17515,NULL,NULL,NULL,2,NULL,NULL,NULL),(45304,'NCBI Gene Summary',NULL,17516,NULL,'This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45305,'NCBI Gene PubMed Count',NULL,17516,NULL,NULL,NULL,79,NULL,NULL,NULL),(45306,'NCBI Gene Summary',NULL,17517,NULL,'This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45307,'NCBI Gene PubMed Count',NULL,17517,NULL,NULL,NULL,27,NULL,NULL,NULL),(45308,'NCBI Gene Summary',NULL,17518,NULL,'This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45309,'NCBI Gene PubMed Count',NULL,17518,NULL,NULL,NULL,31,NULL,NULL,NULL),(45310,'NCBI Gene Summary',NULL,17519,NULL,'This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. Three transcript variants that encode distinct proteins have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45311,'NCBI Gene PubMed Count',NULL,17519,NULL,NULL,NULL,33,NULL,NULL,NULL),(45312,'NCBI Gene PubMed Count',NULL,17520,NULL,NULL,NULL,22,NULL,NULL,NULL),(45313,'NCBI Gene Summary',NULL,17521,NULL,'This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(45314,'NCBI Gene PubMed Count',NULL,17521,NULL,NULL,NULL,213,NULL,NULL,NULL),(45315,'NCBI Gene Summary',NULL,17522,NULL,'This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(45316,'NCBI Gene PubMed Count',NULL,17522,NULL,NULL,NULL,37,NULL,NULL,NULL),(45317,'NCBI Gene PubMed Count',NULL,17523,NULL,NULL,NULL,11,NULL,NULL,NULL),(45318,'NCBI Gene PubMed Count',NULL,17524,NULL,NULL,NULL,11,NULL,NULL,NULL),(45319,'NCBI Gene Summary',NULL,17525,NULL,'Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(45320,'NCBI Gene PubMed Count',NULL,17525,NULL,NULL,NULL,76,NULL,NULL,NULL),(45321,'NCBI Gene Summary',NULL,17526,NULL,'This gene encodes a member of a family of enzymes that function to add glutathione to target electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins, and products of oxidative stress. This action is an important step in detoxification of these compounds. This subfamily of enzymes has a particular role in protecting cells from reactive oxygen species and the products of peroxidation. Polymorphisms in this gene influence the ability of individuals to metabolize different drugs. This gene is located in a cluster of similar genes and pseudogenes on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(45322,'NCBI Gene PubMed Count',NULL,17526,NULL,NULL,NULL,201,NULL,NULL,NULL),(45323,'NCBI Gene Summary',NULL,17527,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45324,'NCBI Gene PubMed Count',NULL,17527,NULL,NULL,NULL,83,NULL,NULL,NULL),(45325,'NCBI Gene Summary',NULL,17528,NULL,'This gene encodes a protein that is involved as a negative regulator of GSK3-beta in the Wnt signaling pathway. The encoded protein may play a role in the retinoic acid signaling pathway by regulating the functional interactions between GSK3-beta, beta-catenin and cyclin D1, and it regulates the beta-catenin/N-cadherin pool. The encoded protein contains a GSK3-beta interacting domain (GID) in its C-terminus, which is similar to the GID of Axin. The protein also contains an evolutionarily conserved RII-binding domain, which facilitates binding with protein kinase-A and GSK3-beta, enabling its role as an A-kinase anchoring protein. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(45326,'NCBI Gene PubMed Count',NULL,17528,NULL,NULL,NULL,19,NULL,NULL,NULL),(45327,'NCBI Gene Summary',NULL,17529,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45328,'NCBI Gene PubMed Count',NULL,17529,NULL,NULL,NULL,44,NULL,NULL,NULL),(45329,'NCBI Gene Summary',NULL,17530,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45330,'NCBI Gene PubMed Count',NULL,17530,NULL,NULL,NULL,12,NULL,NULL,NULL),(45331,'NCBI Gene PubMed Count',NULL,17531,NULL,NULL,NULL,9,NULL,NULL,NULL),(45332,'NCBI Gene Summary',NULL,17532,NULL,'This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(45333,'NCBI Gene PubMed Count',NULL,17532,NULL,NULL,NULL,33,NULL,NULL,NULL),(45334,'NCBI Gene PubMed Count',NULL,17533,NULL,NULL,NULL,1,NULL,NULL,NULL),(45335,'NCBI Gene Summary',NULL,17534,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45336,'NCBI Gene PubMed Count',NULL,17534,NULL,NULL,NULL,7,NULL,NULL,NULL),(45337,'NCBI Gene Summary',NULL,17535,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45338,'NCBI Gene PubMed Count',NULL,17535,NULL,NULL,NULL,17,NULL,NULL,NULL),(45339,'NCBI Gene Summary',NULL,17536,NULL,'Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down\'s syndrome, ataxia, and Parkinson\'s disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(45340,'NCBI Gene PubMed Count',NULL,17536,NULL,NULL,NULL,45,NULL,NULL,NULL),(45341,'NCBI Gene Summary',NULL,17537,NULL,'Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(45342,'NCBI Gene PubMed Count',NULL,17537,NULL,NULL,NULL,46,NULL,NULL,NULL),(45343,'NCBI Gene Summary',NULL,17538,NULL,'Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45344,'NCBI Gene PubMed Count',NULL,17538,NULL,NULL,NULL,18,NULL,NULL,NULL),(45345,'NCBI Gene PubMed Count',NULL,17539,NULL,NULL,NULL,5,NULL,NULL,NULL),(45346,'NCBI Gene PubMed Count',NULL,17540,NULL,NULL,NULL,3,NULL,NULL,NULL),(45347,'NCBI Gene Summary',NULL,17541,NULL,'The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45348,'NCBI Gene PubMed Count',NULL,17541,NULL,NULL,NULL,78,NULL,NULL,NULL),(45349,'NCBI Gene Summary',NULL,17542,NULL,'The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45350,'NCBI Gene PubMed Count',NULL,17542,NULL,NULL,NULL,95,NULL,NULL,NULL),(45351,'NCBI Gene Summary',NULL,17543,NULL,'This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(45352,'NCBI Gene PubMed Count',NULL,17543,NULL,NULL,NULL,13,NULL,NULL,NULL),(45353,'NCBI Gene PubMed Count',NULL,17544,NULL,NULL,NULL,9,NULL,NULL,NULL),(45354,'NCBI Gene PubMed Count',NULL,17545,NULL,NULL,NULL,11,NULL,NULL,NULL),(45355,'NCBI Gene PubMed Count',NULL,17546,NULL,NULL,NULL,4,NULL,NULL,NULL),(45356,'NCBI Gene Summary',NULL,17547,NULL,'The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(45357,'NCBI Gene PubMed Count',NULL,17547,NULL,NULL,NULL,19,NULL,NULL,NULL),(45358,'NCBI Gene PubMed Count',NULL,17548,NULL,NULL,NULL,10,NULL,NULL,NULL),(45359,'NCBI Gene Summary',NULL,17549,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. The related mouse gene encodes a testis specific protein that is required for spermatogenesis and male fertility. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45360,'NCBI Gene PubMed Count',NULL,17549,NULL,NULL,NULL,10,NULL,NULL,NULL),(45361,'NCBI Gene Summary',NULL,17550,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45362,'NCBI Gene PubMed Count',NULL,17550,NULL,NULL,NULL,19,NULL,NULL,NULL),(45363,'NCBI Gene Summary',NULL,17551,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45364,'NCBI Gene PubMed Count',NULL,17551,NULL,NULL,NULL,30,NULL,NULL,NULL),(45365,'NCBI Gene Summary',NULL,17552,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45366,'NCBI Gene PubMed Count',NULL,17552,NULL,NULL,NULL,13,NULL,NULL,NULL),(45367,'NCBI Gene Summary',NULL,17553,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45368,'NCBI Gene PubMed Count',NULL,17553,NULL,NULL,NULL,17,NULL,NULL,NULL),(45369,'NCBI Gene Summary',NULL,17554,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45370,'NCBI Gene PubMed Count',NULL,17554,NULL,NULL,NULL,11,NULL,NULL,NULL),(45371,'NCBI Gene Summary',NULL,17555,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. The protein has antibacterial and antifungal antimicrobial activity. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45372,'NCBI Gene PubMed Count',NULL,17555,NULL,NULL,NULL,72,NULL,NULL,NULL),(45373,'NCBI Gene Summary',NULL,17556,NULL,'This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5\' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(45374,'NCBI Gene PubMed Count',NULL,17556,NULL,NULL,NULL,10,NULL,NULL,NULL),(45375,'NCBI Gene Summary',NULL,17557,NULL,'HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb \'augmentare,\' meaning \'to increase.\' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(45376,'NCBI Gene PubMed Count',NULL,17557,NULL,NULL,NULL,9,NULL,NULL,NULL),(45377,'NCBI Gene Summary',NULL,17558,NULL,'Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45378,'NCBI Gene PubMed Count',NULL,17558,NULL,NULL,NULL,13,NULL,NULL,NULL),(45379,'NCBI Gene PubMed Count',NULL,17559,NULL,NULL,NULL,22,NULL,NULL,NULL),(45380,'NCBI Gene Summary',NULL,17560,NULL,'The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45381,'NCBI Gene PubMed Count',NULL,17560,NULL,NULL,NULL,20,NULL,NULL,NULL),(45382,'NCBI Gene Summary',NULL,17561,NULL,'The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order:  5\'-epsilon - G-gamma - A-gamma - delta - beta-3\' [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45383,'NCBI Gene PubMed Count',NULL,17561,NULL,NULL,NULL,92,NULL,NULL,NULL),(45384,'NCBI Gene Summary',NULL,17562,NULL,'This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm\'s tumor. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(45385,'NCBI Gene PubMed Count',NULL,17562,NULL,NULL,NULL,43,NULL,NULL,NULL),(45386,'NCBI Gene Summary',NULL,17563,NULL,'This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(45387,'NCBI Gene PubMed Count',NULL,17563,NULL,NULL,NULL,53,NULL,NULL,NULL),(45388,'NCBI Gene PubMed Count',NULL,17564,NULL,NULL,NULL,23,NULL,NULL,NULL),(45389,'NCBI Gene Summary',NULL,17565,NULL,'This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(45390,'NCBI Gene PubMed Count',NULL,17565,NULL,NULL,NULL,43,NULL,NULL,NULL),(45391,'NCBI Gene PubMed Count',NULL,17566,NULL,NULL,NULL,46,NULL,NULL,NULL),(45392,'NCBI Gene Summary',NULL,17567,NULL,'The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(45393,'NCBI Gene PubMed Count',NULL,17567,NULL,NULL,NULL,35,NULL,NULL,NULL),(45394,'NCBI Gene Summary',NULL,17568,NULL,'The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects in this gene were noted as a possible cause of some forms of epilepsy. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(45395,'NCBI Gene PubMed Count',NULL,17568,NULL,NULL,NULL,50,NULL,NULL,NULL),(45396,'NCBI Gene Summary',NULL,17569,NULL,'Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named \"kinesin 2\", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45397,'NCBI Gene PubMed Count',NULL,17569,NULL,NULL,NULL,53,NULL,NULL,NULL),(45398,'NCBI Gene Summary',NULL,17570,NULL,'The protein encoded by this gene belongs to the histone deacetylase family, members of which deacetylate lysine residues on the N-terminal part of the core histones. Histone deacetylation modulates chromatin structure, and plays an important role in transcriptional regulation, cell cycle progression, and developmental events. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(45399,'NCBI Gene PubMed Count',NULL,17570,NULL,NULL,NULL,28,NULL,NULL,NULL),(45400,'NCBI Gene PubMed Count',NULL,17571,NULL,NULL,NULL,5,NULL,NULL,NULL),(45401,'NCBI Gene Summary',NULL,17572,NULL,'Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(45402,'NCBI Gene PubMed Count',NULL,17572,NULL,NULL,NULL,91,NULL,NULL,NULL),(45403,'NCBI Gene PubMed Count',NULL,17573,NULL,NULL,NULL,8,NULL,NULL,NULL),(45404,'NCBI Gene Summary',NULL,17574,NULL,'This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of this protein to tri-methylated lysines 36 and 79 of histone H3, and di- and tri-methylated lysine 20 of histone H4. The protein functions in LEDGF/p75-independent HIV-1 replication by determining HIV-1 integration site selection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(45405,'NCBI Gene PubMed Count',NULL,17574,NULL,NULL,NULL,15,NULL,NULL,NULL),(45406,'NCBI Gene Summary',NULL,17575,NULL,'This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(45407,'NCBI Gene PubMed Count',NULL,17575,NULL,NULL,NULL,72,NULL,NULL,NULL),(45408,'NCBI Gene Summary',NULL,17576,NULL,'This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(45409,'NCBI Gene PubMed Count',NULL,17576,NULL,NULL,NULL,11,NULL,NULL,NULL),(45410,'NCBI Gene Summary',NULL,17577,NULL,'This intronless gene encodes a member of the Kruppel-like family of transcription factors. The encoded protein functions as a transcriptional co-repressor, and is induced by transforming growth factor-beta (TGF-beta) to repress TGF-beta receptor II gene expression. This gene exhibits imprinted expression from the maternal allele in embryonic and extra-embryonic tissues. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(45411,'NCBI Gene PubMed Count',NULL,17577,NULL,NULL,NULL,27,NULL,NULL,NULL),(45412,'NCBI Gene PubMed Count',NULL,17578,NULL,NULL,NULL,9,NULL,NULL,NULL),(45413,'NCBI Gene Summary',NULL,17579,NULL,'This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is expressed early in mammalian development and is found in many different cell types. The protein acts to bind the CACCC box found in the promoter of target genes to activate their transcription. It plays a role in many processes during development and disease including adipogenesis, embryonic erythropoiesis, epithelial integrity, inflammation and t-cell viability. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(45414,'NCBI Gene PubMed Count',NULL,17579,NULL,NULL,NULL,134,NULL,NULL,NULL),(45415,'NCBI Gene Summary',NULL,17580,NULL,'This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(45416,'NCBI Gene PubMed Count',NULL,17580,NULL,NULL,NULL,10,NULL,NULL,NULL),(45417,'NCBI Gene Summary',NULL,17581,NULL,'The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(45418,'NCBI Gene PubMed Count',NULL,17581,NULL,NULL,NULL,42,NULL,NULL,NULL),(45419,'NCBI Gene Summary',NULL,17582,NULL,'Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45420,'NCBI Gene PubMed Count',NULL,17582,NULL,NULL,NULL,94,NULL,NULL,NULL),(45421,'NCBI Gene PubMed Count',NULL,17583,NULL,NULL,NULL,19,NULL,NULL,NULL),(45422,'NCBI Gene Summary',NULL,17584,NULL,'The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(45423,'NCBI Gene PubMed Count',NULL,17584,NULL,NULL,NULL,10,NULL,NULL,NULL),(45424,'NCBI Gene Summary',NULL,17585,NULL,'This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(45425,'NCBI Gene PubMed Count',NULL,17585,NULL,NULL,NULL,10,NULL,NULL,NULL),(45426,'NCBI Gene PubMed Count',NULL,17586,NULL,NULL,NULL,4,NULL,NULL,NULL),(45427,'NCBI Gene PubMed Count',NULL,17587,NULL,NULL,NULL,7,NULL,NULL,NULL),(45428,'NCBI Gene Summary',NULL,17588,NULL,'This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. Nothing is presently known about the function of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(45429,'NCBI Gene PubMed Count',NULL,17588,NULL,NULL,NULL,17,NULL,NULL,NULL),(45430,'NCBI Gene Summary',NULL,17589,NULL,'This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45431,'NCBI Gene PubMed Count',NULL,17589,NULL,NULL,NULL,5,NULL,NULL,NULL),(45432,'NCBI Gene PubMed Count',NULL,17590,NULL,NULL,NULL,19,NULL,NULL,NULL),(45433,'NCBI Gene Summary',NULL,17591,NULL,'This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(45434,'NCBI Gene PubMed Count',NULL,17591,NULL,NULL,NULL,364,NULL,NULL,NULL),(45435,'NCBI Gene Summary',NULL,17592,NULL,'GPR89A is a nearly identical copy of the GPR89B gene (MIM 612806).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(45436,'NCBI Gene PubMed Count',NULL,17592,NULL,NULL,NULL,13,NULL,NULL,NULL),(45437,'NCBI Gene Summary',NULL,17593,NULL,'This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(45438,'NCBI Gene PubMed Count',NULL,17593,NULL,NULL,NULL,317,NULL,NULL,NULL),(45439,'NCBI Gene Summary',NULL,17594,NULL,'Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual\'s susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45440,'NCBI Gene PubMed Count',NULL,17594,NULL,NULL,NULL,57,NULL,NULL,NULL),(45441,'NCBI Gene Summary',NULL,17595,NULL,'Members of the glucose transporter (GLUT) family, including SLC2A14, are highly conserved integral membrane proteins that transport hexoses such as glucose and fructose into all mammalian cells. GLUTs show tissue and cell-type specific expression (Wu and Freeze, 2002 [PubMed 12504846]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45442,'NCBI Gene PubMed Count',NULL,17595,NULL,NULL,NULL,11,NULL,NULL,NULL),(45443,'NCBI Gene Summary',NULL,17596,NULL,'The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45444,'NCBI Gene PubMed Count',NULL,17596,NULL,NULL,NULL,31,NULL,NULL,NULL),(45445,'NCBI Gene Summary',NULL,17597,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45446,'NCBI Gene PubMed Count',NULL,17597,NULL,NULL,NULL,9,NULL,NULL,NULL),(45447,'NCBI Gene Summary',NULL,17598,NULL,'This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(45448,'NCBI Gene PubMed Count',NULL,17598,NULL,NULL,NULL,28,NULL,NULL,NULL),(45449,'NCBI Gene Summary',NULL,17599,NULL,'This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45450,'NCBI Gene PubMed Count',NULL,17599,NULL,NULL,NULL,7,NULL,NULL,NULL),(45451,'NCBI Gene Summary',NULL,17600,NULL,'Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45452,'NCBI Gene PubMed Count',NULL,17600,NULL,NULL,NULL,34,NULL,NULL,NULL),(45453,'NCBI Gene Summary',NULL,17601,NULL,'Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45454,'NCBI Gene PubMed Count',NULL,17601,NULL,NULL,NULL,39,NULL,NULL,NULL),(45455,'NCBI Gene Summary',NULL,17602,NULL,'Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45456,'NCBI Gene PubMed Count',NULL,17602,NULL,NULL,NULL,46,NULL,NULL,NULL),(45457,'NCBI Gene Summary',NULL,17603,NULL,'Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45458,'NCBI Gene PubMed Count',NULL,17603,NULL,NULL,NULL,43,NULL,NULL,NULL),(45459,'NCBI Gene PubMed Count',NULL,17604,NULL,NULL,NULL,5,NULL,NULL,NULL),(45460,'NCBI Gene Summary',NULL,17605,NULL,'The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45461,'NCBI Gene PubMed Count',NULL,17605,NULL,NULL,NULL,10,NULL,NULL,NULL),(45462,'NCBI Gene Summary',NULL,17606,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. The protein encoded is a replication-independent histone that is a member of the histone H1 family. This gene contains introns, unlike most histone genes. The related mouse gene is expressed only in oocytes. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45463,'NCBI Gene PubMed Count',NULL,17606,NULL,NULL,NULL,13,NULL,NULL,NULL),(45464,'NCBI Gene Summary',NULL,17607,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45465,'NCBI Gene PubMed Count',NULL,17607,NULL,NULL,NULL,22,NULL,NULL,NULL),(45466,'NCBI Gene PubMed Count',NULL,17608,NULL,NULL,NULL,6,NULL,NULL,NULL),(45467,'NCBI Gene Summary',NULL,17609,NULL,'Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45468,'NCBI Gene PubMed Count',NULL,17609,NULL,NULL,NULL,14,NULL,NULL,NULL),(45469,'NCBI Gene Summary',NULL,17610,NULL,'HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb \'augmentare,\' meaning \'to increase.\' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(45470,'NCBI Gene PubMed Count',NULL,17610,NULL,NULL,NULL,19,NULL,NULL,NULL),(45471,'NCBI Gene Summary',NULL,17611,NULL,'The protein encoded by this gene can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic reticulum membrane. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(45472,'NCBI Gene PubMed Count',NULL,17611,NULL,NULL,NULL,12,NULL,NULL,NULL),(45473,'NCBI Gene Summary',NULL,17612,NULL,'The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5\'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3\'. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45474,'NCBI Gene PubMed Count',NULL,17612,NULL,NULL,NULL,707,NULL,NULL,NULL),(45475,'NCBI Gene PubMed Count',NULL,17613,NULL,NULL,NULL,7,NULL,NULL,NULL),(45476,'NCBI Gene PubMed Count',NULL,17614,NULL,NULL,NULL,177,NULL,NULL,NULL),(45477,'NCBI Gene Summary',NULL,17615,NULL,'The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5\'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3\'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45478,'NCBI Gene PubMed Count',NULL,17615,NULL,NULL,NULL,9,NULL,NULL,NULL),(45479,'NCBI Gene Summary',NULL,17616,NULL,'G protein-coupled receptors (GPCRs, or GPRs), such as GPR81, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Feb 2005]',NULL,NULL,NULL,NULL,NULL),(45480,'NCBI Gene PubMed Count',NULL,17616,NULL,NULL,NULL,25,NULL,NULL,NULL),(45481,'NCBI Gene Summary',NULL,17617,NULL,'This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(45482,'NCBI Gene PubMed Count',NULL,17617,NULL,NULL,NULL,15,NULL,NULL,NULL),(45483,'NCBI Gene Summary',NULL,17618,NULL,'This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(45484,'NCBI Gene PubMed Count',NULL,17618,NULL,NULL,NULL,23,NULL,NULL,NULL),(45485,'NCBI Gene Summary',NULL,17619,NULL,'This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45486,'NCBI Gene PubMed Count',NULL,17619,NULL,NULL,NULL,21,NULL,NULL,NULL),(45487,'NCBI Gene Summary',NULL,17620,NULL,'This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(45488,'NCBI Gene PubMed Count',NULL,17620,NULL,NULL,NULL,66,NULL,NULL,NULL),(45489,'NCBI Gene Summary',NULL,17621,NULL,'The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the activation, as well as the inactivation of thyroid hormone by outer and inner ring deiodination, respectively. The activation reaction involves the conversion of the prohormone thyroxine (3,5,3\',5\'-tetraiodothyronine, T4), secreted by the thyroid gland, to the bioactive thyroid hormone (3,5,3\'-triiodothyronine, T3) by 5\'-deiodination. This protein provides most of the circulating T3, which is essential for growth, differentiation and basal metabolism in vertebrates. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2018]',NULL,NULL,NULL,NULL,NULL),(45490,'NCBI Gene PubMed Count',NULL,17621,NULL,NULL,NULL,62,NULL,NULL,NULL),(45491,'NCBI Gene Summary',NULL,17622,NULL,'The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3\',5\'-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3\'-triiodothyronine, T3) by outer ring 5\'-deiodination. This gene is widely expressed, including in thyroid and brain. It is thought to be responsible for the \'local\' production of T3, and thus important in influencing thyroid hormone action in these tissues. It has also been reported to be highly expressed in thyroids of patients with Graves disease, and in follicular adenomas. The intrathyroidal T4 to T3 conversion by this enzyme may contribute significantly to the relative increase in thyroidal T3 production in these patients. This protein is a selenoprotein containing the non-standard amino acid, selenocysteine (Sec), which is encoded by the UGA codon that normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Unlike the other two members (DIO1 and DIO3) of this enzyme family, the mRNA for this gene contains an additional in-frame UGA codon that has been reported (in human) to function either as a Sec or a stop codon, which can result in two isoforms with one or two Sec residues; however, only the upstream Sec (conserved with the single Sec residue found at the active site in DIO1 and DIO3) was shown to be essential for enzyme activity (PMID:10403186). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2018]',NULL,NULL,NULL,NULL,NULL),(45492,'NCBI Gene PubMed Count',NULL,17622,NULL,NULL,NULL,115,NULL,NULL,NULL),(45493,'NCBI Gene Summary',NULL,17623,NULL,'This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(45494,'NCBI Gene PubMed Count',NULL,17623,NULL,NULL,NULL,27,NULL,NULL,NULL),(45495,'NCBI Gene Summary',NULL,17624,NULL,'This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(45496,'NCBI Gene PubMed Count',NULL,17624,NULL,NULL,NULL,31,NULL,NULL,NULL),(45497,'NCBI Gene Summary',NULL,17625,NULL,'This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(45498,'NCBI Gene PubMed Count',NULL,17625,NULL,NULL,NULL,20,NULL,NULL,NULL),(45499,'NCBI Gene PubMed Count',NULL,17626,NULL,NULL,NULL,7,NULL,NULL,NULL),(45500,'NCBI Gene PubMed Count',NULL,17627,NULL,NULL,NULL,10,NULL,NULL,NULL),(45501,'NCBI Gene PubMed Count',NULL,17628,NULL,NULL,NULL,7,NULL,NULL,NULL),(45502,'NCBI Gene Summary',NULL,17629,NULL,'This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(45503,'NCBI Gene PubMed Count',NULL,17629,NULL,NULL,NULL,27,NULL,NULL,NULL),(45504,'NCBI Gene Summary',NULL,17630,NULL,'Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45505,'NCBI Gene PubMed Count',NULL,17630,NULL,NULL,NULL,61,NULL,NULL,NULL),(45506,'NCBI Gene Summary',NULL,17631,NULL,'The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45507,'NCBI Gene PubMed Count',NULL,17631,NULL,NULL,NULL,24,NULL,NULL,NULL),(45508,'NCBI Gene PubMed Count',NULL,17632,NULL,NULL,NULL,6,NULL,NULL,NULL),(45509,'NCBI Gene Summary',NULL,17633,NULL,'This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45510,'NCBI Gene PubMed Count',NULL,17633,NULL,NULL,NULL,56,NULL,NULL,NULL),(45511,'NCBI Gene Summary',NULL,17634,NULL,'This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45512,'NCBI Gene PubMed Count',NULL,17634,NULL,NULL,NULL,11,NULL,NULL,NULL),(45513,'NCBI Gene Summary',NULL,17635,NULL,'This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(45514,'NCBI Gene PubMed Count',NULL,17635,NULL,NULL,NULL,27,NULL,NULL,NULL),(45515,'NCBI Gene Summary',NULL,17636,NULL,'ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45516,'NCBI Gene PubMed Count',NULL,17636,NULL,NULL,NULL,17,NULL,NULL,NULL),(45517,'NCBI Gene Summary',NULL,17637,NULL,'This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45518,'NCBI Gene PubMed Count',NULL,17637,NULL,NULL,NULL,22,NULL,NULL,NULL),(45519,'NCBI Gene Summary',NULL,17638,NULL,'The protein encoded by this gene is a serine-threonine kinase belonging to the glycogen synthase kinase subfamily. It is a negative regulator of glucose homeostasis and is involved in energy metabolism, inflammation, ER-stress, mitochondrial dysfunction, and apoptotic pathways. Defects in this gene have been associated with Parkinson disease and Alzheimer disease. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(45520,'NCBI Gene PubMed Count',NULL,17638,NULL,NULL,NULL,1035,NULL,NULL,NULL),(45521,'NCBI Gene Summary',NULL,17639,NULL,'Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson\'s disease, Alzheimer\'s disease, cataract formation, and atherosclerosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45522,'NCBI Gene PubMed Count',NULL,17639,NULL,NULL,NULL,58,NULL,NULL,NULL),(45523,'NCBI Gene PubMed Count',NULL,17640,NULL,NULL,NULL,12,NULL,NULL,NULL),(45524,'NCBI Gene Summary',NULL,17641,NULL,'The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(45525,'NCBI Gene PubMed Count',NULL,17641,NULL,NULL,NULL,9,NULL,NULL,NULL),(45526,'NCBI Gene Summary',NULL,17642,NULL,'This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(45527,'NCBI Gene PubMed Count',NULL,17642,NULL,NULL,NULL,24,NULL,NULL,NULL),(45528,'NCBI Gene PubMed Count',NULL,17643,NULL,NULL,NULL,5,NULL,NULL,NULL),(45529,'NCBI Gene Summary',NULL,17644,NULL,'This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45530,'NCBI Gene PubMed Count',NULL,17644,NULL,NULL,NULL,76,NULL,NULL,NULL),(45531,'NCBI Gene Summary',NULL,17645,NULL,'This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(45532,'NCBI Gene PubMed Count',NULL,17645,NULL,NULL,NULL,65,NULL,NULL,NULL),(45533,'NCBI Gene Summary',NULL,17646,NULL,'This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45534,'NCBI Gene PubMed Count',NULL,17646,NULL,NULL,NULL,32,NULL,NULL,NULL),(45535,'NCBI Gene Summary',NULL,17647,NULL,'The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45536,'NCBI Gene PubMed Count',NULL,17647,NULL,NULL,NULL,133,NULL,NULL,NULL),(45537,'NCBI Gene Summary',NULL,17648,NULL,'The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability.  The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45538,'NCBI Gene PubMed Count',NULL,17648,NULL,NULL,NULL,134,NULL,NULL,NULL),(45539,'NCBI Gene Summary',NULL,17649,NULL,'The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(45540,'NCBI Gene PubMed Count',NULL,17649,NULL,NULL,NULL,18,NULL,NULL,NULL),(45541,'NCBI Gene Summary',NULL,17650,NULL,'This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(45542,'NCBI Gene PubMed Count',NULL,17650,NULL,NULL,NULL,19,NULL,NULL,NULL),(45543,'NCBI Gene PubMed Count',NULL,17651,NULL,NULL,NULL,7,NULL,NULL,NULL),(45544,'NCBI Gene Summary',NULL,17652,NULL,'This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(45545,'NCBI Gene PubMed Count',NULL,17652,NULL,NULL,NULL,41,NULL,NULL,NULL),(45546,'NCBI Gene Summary',NULL,17653,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45547,'NCBI Gene PubMed Count',NULL,17653,NULL,NULL,NULL,21,NULL,NULL,NULL),(45548,'NCBI Gene Summary',NULL,17654,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45549,'NCBI Gene PubMed Count',NULL,17654,NULL,NULL,NULL,24,NULL,NULL,NULL),(45550,'NCBI Gene Summary',NULL,17655,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45551,'NCBI Gene PubMed Count',NULL,17655,NULL,NULL,NULL,22,NULL,NULL,NULL),(45552,'NCBI Gene Summary',NULL,17656,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45553,'NCBI Gene PubMed Count',NULL,17656,NULL,NULL,NULL,11,NULL,NULL,NULL),(45554,'NCBI Gene Summary',NULL,17657,NULL,'This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(45555,'NCBI Gene PubMed Count',NULL,17657,NULL,NULL,NULL,28,NULL,NULL,NULL),(45556,'NCBI Gene Summary',NULL,17658,NULL,'The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen\'s disease). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45557,'NCBI Gene PubMed Count',NULL,17658,NULL,NULL,NULL,44,NULL,NULL,NULL),(45558,'NCBI Gene PubMed Count',NULL,17659,NULL,NULL,NULL,6,NULL,NULL,NULL),(45559,'NCBI Gene Summary',NULL,17660,NULL,'This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(45560,'NCBI Gene PubMed Count',NULL,17660,NULL,NULL,NULL,15,NULL,NULL,NULL),(45561,'NCBI Gene Summary',NULL,17661,NULL,'This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45562,'NCBI Gene PubMed Count',NULL,17661,NULL,NULL,NULL,35,NULL,NULL,NULL),(45563,'NCBI Gene Summary',NULL,17662,NULL,'The protein encoded by this gene, glutathione S-transferase (GST) theta 2 (GSTT2), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2 gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(45564,'NCBI Gene PubMed Count',NULL,17662,NULL,NULL,NULL,42,NULL,NULL,NULL),(45565,'NCBI Gene Summary',NULL,17663,NULL,'The glutathione S-transferases (GST; EC 2.5.1.18) catalyze the conjugation of reduced glutathiones and a variety of electrophiles, including many known carcinogens and mutagens. The cytosolic GSTs belong to a large superfamily, with members located on different chromosomes. For additional information on GSTs, see GSTA1 (MIM 138359).[supplied by OMIM, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(45566,'NCBI Gene PubMed Count',NULL,17663,NULL,NULL,NULL,9,NULL,NULL,NULL),(45567,'NCBI Gene PubMed Count',NULL,17664,NULL,NULL,NULL,3,NULL,NULL,NULL),(45568,'NCBI Gene PubMed Count',NULL,17665,NULL,NULL,NULL,7,NULL,NULL,NULL),(45569,'NCBI Gene Summary',NULL,17666,NULL,'The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(45570,'NCBI Gene PubMed Count',NULL,17666,NULL,NULL,NULL,75,NULL,NULL,NULL),(45571,'NCBI Gene Summary',NULL,17667,NULL,'The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(45572,'NCBI Gene PubMed Count',NULL,17667,NULL,NULL,NULL,37,NULL,NULL,NULL),(45573,'NCBI Gene Summary',NULL,17668,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45574,'NCBI Gene PubMed Count',NULL,17668,NULL,NULL,NULL,93,NULL,NULL,NULL),(45575,'NCBI Gene Summary',NULL,17669,NULL,'Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(45576,'NCBI Gene PubMed Count',NULL,17669,NULL,NULL,NULL,14,NULL,NULL,NULL),(45577,'NCBI Gene Summary',NULL,17670,NULL,'SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45578,'NCBI Gene PubMed Count',NULL,17670,NULL,NULL,NULL,5,NULL,NULL,NULL),(45579,'NCBI Gene Summary',NULL,17671,NULL,'This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45580,'NCBI Gene PubMed Count',NULL,17671,NULL,NULL,NULL,15,NULL,NULL,NULL),(45581,'NCBI Gene PubMed Count',NULL,17672,NULL,NULL,NULL,1,NULL,NULL,NULL),(45582,'NCBI Gene Summary',NULL,17673,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(45583,'NCBI Gene PubMed Count',NULL,17673,NULL,NULL,NULL,13,NULL,NULL,NULL),(45584,'NCBI Gene Summary',NULL,17674,NULL,'This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by internal acidification and volatile anaesthetics. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45585,'NCBI Gene PubMed Count',NULL,17674,NULL,NULL,NULL,17,NULL,NULL,NULL),(45586,'NCBI Gene Summary',NULL,17675,NULL,'This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45587,'NCBI Gene PubMed Count',NULL,17675,NULL,NULL,NULL,12,NULL,NULL,NULL),(45588,'NCBI Gene Summary',NULL,17676,NULL,'Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(45589,'NCBI Gene PubMed Count',NULL,17676,NULL,NULL,NULL,23,NULL,NULL,NULL),(45590,'NCBI Gene Summary',NULL,17677,NULL,'This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(45591,'NCBI Gene PubMed Count',NULL,17677,NULL,NULL,NULL,529,NULL,NULL,NULL),(45592,'NCBI Gene Summary',NULL,17678,NULL,'This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(45593,'NCBI Gene PubMed Count',NULL,17678,NULL,NULL,NULL,77,NULL,NULL,NULL),(45594,'NCBI Gene PubMed Count',NULL,17679,NULL,NULL,NULL,10,NULL,NULL,NULL),(45595,'NCBI Gene PubMed Count',NULL,17680,NULL,NULL,NULL,6,NULL,NULL,NULL),(45596,'NCBI Gene Summary',NULL,17681,NULL,'This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(45597,'NCBI Gene PubMed Count',NULL,17681,NULL,NULL,NULL,19,NULL,NULL,NULL),(45598,'NCBI Gene PubMed Count',NULL,17682,NULL,NULL,NULL,6,NULL,NULL,NULL),(45599,'NCBI Gene PubMed Count',NULL,17683,NULL,NULL,NULL,3,NULL,NULL,NULL),(45600,'NCBI Gene Summary',NULL,17684,NULL,'This gene encodes one of the enzymes required for cellular nucleic acid biosynthesis. This enzyme catalyzes the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding diphosphate nucleotide. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(45601,'NCBI Gene PubMed Count',NULL,17684,NULL,NULL,NULL,31,NULL,NULL,NULL),(45602,'NCBI Gene Summary',NULL,17685,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45603,'NCBI Gene PubMed Count',NULL,17685,NULL,NULL,NULL,36,NULL,NULL,NULL),(45604,'NCBI Gene Summary',NULL,17686,NULL,'Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45605,'NCBI Gene PubMed Count',NULL,17686,NULL,NULL,NULL,36,NULL,NULL,NULL),(45606,'NCBI Gene Summary',NULL,17687,NULL,'The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(45607,'NCBI Gene PubMed Count',NULL,17687,NULL,NULL,NULL,20,NULL,NULL,NULL),(45608,'NCBI Gene Summary',NULL,17688,NULL,'This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(45609,'NCBI Gene PubMed Count',NULL,17688,NULL,NULL,NULL,29,NULL,NULL,NULL),(45610,'NCBI Gene Summary',NULL,17689,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45611,'NCBI Gene PubMed Count',NULL,17689,NULL,NULL,NULL,22,NULL,NULL,NULL),(45612,'NCBI Gene Summary',NULL,17690,NULL,'Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is found in a histone cluster on chromosome 1. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45613,'NCBI Gene PubMed Count',NULL,17690,NULL,NULL,NULL,6,NULL,NULL,NULL),(45614,'NCBI Gene Summary',NULL,17691,NULL,'Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is found in a histone cluster on chromosome 1. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45615,'NCBI Gene PubMed Count',NULL,17691,NULL,NULL,NULL,9,NULL,NULL,NULL),(45616,'NCBI Gene Summary',NULL,17692,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45617,'NCBI Gene PubMed Count',NULL,17692,NULL,NULL,NULL,70,NULL,NULL,NULL),(45618,'NCBI Gene Summary',NULL,17693,NULL,'This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(45619,'NCBI Gene PubMed Count',NULL,17693,NULL,NULL,NULL,238,NULL,NULL,NULL),(45620,'NCBI Gene PubMed Count',NULL,17694,NULL,NULL,NULL,8,NULL,NULL,NULL),(45621,'NCBI Gene Summary',NULL,17695,NULL,'The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(45622,'NCBI Gene PubMed Count',NULL,17695,NULL,NULL,NULL,81,NULL,NULL,NULL),(45623,'NCBI Gene Summary',NULL,17696,NULL,'The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(45624,'NCBI Gene PubMed Count',NULL,17696,NULL,NULL,NULL,16,NULL,NULL,NULL),(45625,'NCBI Gene PubMed Count',NULL,17697,NULL,NULL,NULL,18,NULL,NULL,NULL),(45626,'NCBI Gene PubMed Count',NULL,17698,NULL,NULL,NULL,9,NULL,NULL,NULL),(45627,'NCBI Gene PubMed Count',NULL,17699,NULL,NULL,NULL,8,NULL,NULL,NULL),(45628,'NCBI Gene PubMed Count',NULL,17700,NULL,NULL,NULL,5,NULL,NULL,NULL),(45629,'NCBI Gene Summary',NULL,17701,NULL,'The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(45630,'NCBI Gene PubMed Count',NULL,17701,NULL,NULL,NULL,14,NULL,NULL,NULL),(45631,'NCBI Gene Summary',NULL,17702,NULL,'The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45632,'NCBI Gene PubMed Count',NULL,17702,NULL,NULL,NULL,9,NULL,NULL,NULL),(45633,'NCBI Gene Summary',NULL,17703,NULL,'This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(45634,'NCBI Gene PubMed Count',NULL,17703,NULL,NULL,NULL,17,NULL,NULL,NULL),(45635,'NCBI Gene Summary',NULL,17704,NULL,'Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45636,'NCBI Gene PubMed Count',NULL,17704,NULL,NULL,NULL,91,NULL,NULL,NULL),(45637,'NCBI Gene Summary',NULL,17705,NULL,'Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45638,'NCBI Gene PubMed Count',NULL,17705,NULL,NULL,NULL,62,NULL,NULL,NULL),(45639,'NCBI Gene Summary',NULL,17706,NULL,'Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive cognitive disability. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45640,'NCBI Gene PubMed Count',NULL,17706,NULL,NULL,NULL,91,NULL,NULL,NULL),(45641,'NCBI Gene Summary',NULL,17707,NULL,'This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(45642,'NCBI Gene PubMed Count',NULL,17707,NULL,NULL,NULL,56,NULL,NULL,NULL),(45643,'NCBI Gene Summary',NULL,17708,NULL,'Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. It is not certain if the subunit encoded by this gene is subject to RNA editing as the other 2 family members (GRIK1 and GRIK2). A Ser310Ala polymorphism has been associated with schizophrenia, and there are conflicting reports of its association with the pathogenesis of delirium tremens in alcoholics. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45644,'NCBI Gene PubMed Count',NULL,17708,NULL,NULL,NULL,35,NULL,NULL,NULL),(45645,'NCBI Gene Summary',NULL,17709,NULL,'L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(45646,'NCBI Gene PubMed Count',NULL,17709,NULL,NULL,NULL,43,NULL,NULL,NULL),(45647,'NCBI Gene Summary',NULL,17710,NULL,'L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(45648,'NCBI Gene PubMed Count',NULL,17710,NULL,NULL,NULL,41,NULL,NULL,NULL),(45649,'NCBI Gene Summary',NULL,17711,NULL,'This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(45650,'NCBI Gene PubMed Count',NULL,17711,NULL,NULL,NULL,89,NULL,NULL,NULL),(45651,'NCBI Gene Summary',NULL,17712,NULL,'The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45652,'NCBI Gene PubMed Count',NULL,17712,NULL,NULL,NULL,40,NULL,NULL,NULL),(45653,'NCBI Gene Summary',NULL,17713,NULL,'L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(45654,'NCBI Gene PubMed Count',NULL,17713,NULL,NULL,NULL,59,NULL,NULL,NULL),(45655,'NCBI Gene Summary',NULL,17714,NULL,'L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45656,'NCBI Gene PubMed Count',NULL,17714,NULL,NULL,NULL,39,NULL,NULL,NULL),(45657,'NCBI Gene Summary',NULL,17715,NULL,'This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(45658,'NCBI Gene PubMed Count',NULL,17715,NULL,NULL,NULL,6,NULL,NULL,NULL),(45659,'NCBI Gene Summary',NULL,17716,NULL,'Gastrin-releasing peptide (GRP) regulates numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation and is a potent mitogen for neoplastic tissues. The effects of GRP are mediated through the gastrin-releasing peptide receptor. This receptor is a glycosylated, 7-transmembrane G-protein coupled receptor that activates the phospholipase C signaling pathway. The receptor is aberrantly expressed in numerous cancers such as those of the lung, colon, and prostate. An individual with autism and multiple exostoses was found to have a balanced translocation between chromosome 8 and a chromosome X breakpoint located within the gastrin-releasing peptide receptor gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45660,'NCBI Gene PubMed Count',NULL,17716,NULL,NULL,NULL,62,NULL,NULL,NULL),(45661,'NCBI Gene Summary',NULL,17717,NULL,'IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45662,'NCBI Gene PubMed Count',NULL,17717,NULL,NULL,NULL,130,NULL,NULL,NULL),(45663,'NCBI Gene Summary',NULL,17718,NULL,'Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45664,'NCBI Gene PubMed Count',NULL,17718,NULL,NULL,NULL,118,NULL,NULL,NULL),(45665,'NCBI Gene PubMed Count',NULL,17719,NULL,NULL,NULL,67,NULL,NULL,NULL),(45666,'NCBI Gene Summary',NULL,17720,NULL,'This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn\'s disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(45667,'NCBI Gene PubMed Count',NULL,17720,NULL,NULL,NULL,79,NULL,NULL,NULL),(45668,'NCBI Gene PubMed Count',NULL,17721,NULL,NULL,NULL,8,NULL,NULL,NULL),(45669,'NCBI Gene PubMed Count',NULL,17722,NULL,NULL,NULL,18,NULL,NULL,NULL),(45670,'NCBI Gene Summary',NULL,17723,NULL,'The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(45671,'NCBI Gene PubMed Count',NULL,17723,NULL,NULL,NULL,11,NULL,NULL,NULL),(45672,'NCBI Gene Summary',NULL,17724,NULL,'Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(45673,'NCBI Gene PubMed Count',NULL,17724,NULL,NULL,NULL,30,NULL,NULL,NULL),(45674,'NCBI Gene Summary',NULL,17725,NULL,'Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45675,'NCBI Gene PubMed Count',NULL,17725,NULL,NULL,NULL,42,NULL,NULL,NULL),(45676,'NCBI Gene Summary',NULL,17726,NULL,'This gene encodes a proline-rich protein with coiled coil domains that may be a subunit of a BRAF35-HDAC (BHC) histone deacetylase complex. This gene may function as an oncogene in breast cancer and enhanced expression of the encoded protein has been observed in breast cancer patients. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(45677,'NCBI Gene PubMed Count',NULL,17726,NULL,NULL,NULL,16,NULL,NULL,NULL),(45678,'NCBI Gene PubMed Count',NULL,17727,NULL,NULL,NULL,10,NULL,NULL,NULL),(45679,'NCBI Gene Summary',NULL,17728,NULL,'This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer\'s disease. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(45680,'NCBI Gene PubMed Count',NULL,17728,NULL,NULL,NULL,120,NULL,NULL,NULL),(45681,'NCBI Gene Summary',NULL,17729,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45682,'NCBI Gene PubMed Count',NULL,17729,NULL,NULL,NULL,61,NULL,NULL,NULL),(45683,'NCBI Gene Summary',NULL,17730,NULL,'Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual\'s susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45684,'NCBI Gene PubMed Count',NULL,17730,NULL,NULL,NULL,37,NULL,NULL,NULL),(45685,'NCBI Gene Summary',NULL,17731,NULL,'Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual\'s susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45686,'NCBI Gene PubMed Count',NULL,17731,NULL,NULL,NULL,25,NULL,NULL,NULL),(45687,'NCBI Gene Summary',NULL,17732,NULL,'The protein encoded by this gene, glutathione S-transferase (GST) theta 2B (GSTT2B), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2B gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(45688,'NCBI Gene PubMed Count',NULL,17732,NULL,NULL,NULL,12,NULL,NULL,NULL),(45689,'NCBI Gene Summary',NULL,17733,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45690,'NCBI Gene PubMed Count',NULL,17733,NULL,NULL,NULL,30,NULL,NULL,NULL),(45691,'NCBI Gene Summary',NULL,17734,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45692,'NCBI Gene PubMed Count',NULL,17734,NULL,NULL,NULL,11,NULL,NULL,NULL),(45693,'NCBI Gene Summary',NULL,17735,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45694,'NCBI Gene PubMed Count',NULL,17735,NULL,NULL,NULL,13,NULL,NULL,NULL),(45695,'NCBI Gene Summary',NULL,17736,NULL,'Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45696,'NCBI Gene PubMed Count',NULL,17736,NULL,NULL,NULL,9,NULL,NULL,NULL),(45697,'NCBI Gene Summary',NULL,17737,NULL,'Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45698,'NCBI Gene PubMed Count',NULL,17737,NULL,NULL,NULL,15,NULL,NULL,NULL),(45699,'NCBI Gene PubMed Count',NULL,17738,NULL,NULL,NULL,25,NULL,NULL,NULL),(45700,'NCBI Gene Summary',NULL,17739,NULL,'This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products, including uroguanylin, a member of the guanylin family of peptides and an endogenous ligand of the guanylate cyclase-C receptor. Binding of this peptide to its cognate receptor stimulates an increase in cyclic GMP and may regulate salt and water homeostasis in the intestine and kidneys. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(45701,'NCBI Gene PubMed Count',NULL,17739,NULL,NULL,NULL,27,NULL,NULL,NULL),(45702,'NCBI Gene Summary',NULL,17740,NULL,'Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45703,'NCBI Gene PubMed Count',NULL,17740,NULL,NULL,NULL,5,NULL,NULL,NULL),(45704,'NCBI Gene Summary',NULL,17741,NULL,'The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(45705,'NCBI Gene PubMed Count',NULL,17741,NULL,NULL,NULL,10,NULL,NULL,NULL),(45706,'NCBI Gene Summary',NULL,17742,NULL,'Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45707,'NCBI Gene PubMed Count',NULL,17742,NULL,NULL,NULL,31,NULL,NULL,NULL),(45708,'NCBI Gene PubMed Count',NULL,17743,NULL,NULL,NULL,14,NULL,NULL,NULL),(45709,'NCBI Gene PubMed Count',NULL,17744,NULL,NULL,NULL,12,NULL,NULL,NULL),(45710,'NCBI Gene PubMed Count',NULL,17745,NULL,NULL,NULL,0,NULL,NULL,NULL),(45711,'NCBI Gene PubMed Count',NULL,17746,NULL,NULL,NULL,2,NULL,NULL,NULL),(45712,'NCBI Gene Summary',NULL,17747,NULL,'This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(45713,'NCBI Gene PubMed Count',NULL,17747,NULL,NULL,NULL,29,NULL,NULL,NULL),(45714,'NCBI Gene Summary',NULL,17748,NULL,'GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(45715,'NCBI Gene PubMed Count',NULL,17748,NULL,NULL,NULL,4,NULL,NULL,NULL),(45716,'NCBI Gene Summary',NULL,17749,NULL,'The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(45717,'NCBI Gene PubMed Count',NULL,17749,NULL,NULL,NULL,3,NULL,NULL,NULL),(45718,'NCBI Gene Summary',NULL,17750,NULL,'The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(45719,'NCBI Gene PubMed Count',NULL,17750,NULL,NULL,NULL,64,NULL,NULL,NULL),(45720,'NCBI Gene Summary',NULL,17751,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit of the voltage-gated potassium channel. The delayed-rectifier type channels containing this subunit may contribute to cardiac action potential repolarization. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45721,'NCBI Gene PubMed Count',NULL,17751,NULL,NULL,NULL,5,NULL,NULL,NULL),(45722,'NCBI Gene Summary',NULL,17752,NULL,'This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(45723,'NCBI Gene PubMed Count',NULL,17752,NULL,NULL,NULL,525,NULL,NULL,NULL),(45724,'NCBI Gene Summary',NULL,17753,NULL,'This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(45725,'NCBI Gene PubMed Count',NULL,17753,NULL,NULL,NULL,6,NULL,NULL,NULL),(45726,'NCBI Gene Summary',NULL,17754,NULL,'This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(45727,'NCBI Gene PubMed Count',NULL,17754,NULL,NULL,NULL,26,NULL,NULL,NULL),(45728,'NCBI Gene Summary',NULL,17755,NULL,'This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(45729,'NCBI Gene PubMed Count',NULL,17755,NULL,NULL,NULL,89,NULL,NULL,NULL),(45730,'NCBI Gene Summary',NULL,17756,NULL,'The protein encoded by this gene is a fructose transporter responsible for fructose uptake by the small intestine. The encoded protein also is necessary for the increase in blood pressure due to high dietary fructose consumption. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(45731,'NCBI Gene PubMed Count',NULL,17756,NULL,NULL,NULL,38,NULL,NULL,NULL),(45732,'NCBI Gene Summary',NULL,17757,NULL,'This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45733,'NCBI Gene PubMed Count',NULL,17757,NULL,NULL,NULL,10,NULL,NULL,NULL),(45734,'NCBI Gene Summary',NULL,17758,NULL,'Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(45735,'NCBI Gene PubMed Count',NULL,17758,NULL,NULL,NULL,83,NULL,NULL,NULL),(45736,'NCBI Gene Summary',NULL,17759,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45737,'NCBI Gene PubMed Count',NULL,17759,NULL,NULL,NULL,23,NULL,NULL,NULL),(45738,'NCBI Gene Summary',NULL,17760,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45739,'NCBI Gene PubMed Count',NULL,17760,NULL,NULL,NULL,19,NULL,NULL,NULL),(45740,'NCBI Gene Summary',NULL,17761,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45741,'NCBI Gene PubMed Count',NULL,17761,NULL,NULL,NULL,342,NULL,NULL,NULL),(45742,'NCBI Gene Summary',NULL,17762,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45743,'NCBI Gene PubMed Count',NULL,17762,NULL,NULL,NULL,41,NULL,NULL,NULL),(45744,'NCBI Gene Summary',NULL,17763,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is located on chromosome 12 and encodes a replication-independent histone that is a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. This gene also encodes an antimicrobial peptide with antibacterial and antifungal activity.[provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(45745,'NCBI Gene PubMed Count',NULL,17763,NULL,NULL,NULL,18,NULL,NULL,NULL),(45746,'NCBI Gene Summary',NULL,17764,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family and is found in a histone cluster on chromosome 1. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45747,'NCBI Gene PubMed Count',NULL,17764,NULL,NULL,NULL,16,NULL,NULL,NULL),(45748,'NCBI Gene Summary',NULL,17765,NULL,'Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45749,'NCBI Gene PubMed Count',NULL,17765,NULL,NULL,NULL,115,NULL,NULL,NULL),(45750,'NCBI Gene Summary',NULL,17767,NULL,'The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45751,'NCBI Gene PubMed Count',NULL,17767,NULL,NULL,NULL,14,NULL,NULL,NULL),(45752,'NCBI Gene Summary',NULL,17768,NULL,'The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(45753,'NCBI Gene PubMed Count',NULL,17768,NULL,NULL,NULL,144,NULL,NULL,NULL),(45754,'NCBI Gene Summary',NULL,17769,NULL,'This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45755,'NCBI Gene PubMed Count',NULL,17769,NULL,NULL,NULL,989,NULL,NULL,NULL),(45756,'NCBI Gene Summary',NULL,17770,NULL,'This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(45757,'NCBI Gene PubMed Count',NULL,17770,NULL,NULL,NULL,75,NULL,NULL,NULL),(45758,'NCBI Gene PubMed Count',NULL,17771,NULL,NULL,NULL,3,NULL,NULL,NULL),(45759,'NCBI Gene Summary',NULL,17772,NULL,'This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(45760,'NCBI Gene PubMed Count',NULL,17772,NULL,NULL,NULL,38,NULL,NULL,NULL),(45761,'NCBI Gene Summary',NULL,17773,NULL,'The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45762,'NCBI Gene PubMed Count',NULL,17773,NULL,NULL,NULL,27,NULL,NULL,NULL),(45763,'NCBI Gene Summary',NULL,17774,NULL,'This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45764,'NCBI Gene PubMed Count',NULL,17774,NULL,NULL,NULL,94,NULL,NULL,NULL),(45765,'NCBI Gene PubMed Count',NULL,17775,NULL,NULL,NULL,3,NULL,NULL,NULL),(45766,'NCBI Gene PubMed Count',NULL,17776,NULL,NULL,NULL,13,NULL,NULL,NULL),(45767,'NCBI Gene PubMed Count',NULL,17777,NULL,NULL,NULL,7,NULL,NULL,NULL),(45768,'NCBI Gene PubMed Count',NULL,17778,NULL,NULL,NULL,12,NULL,NULL,NULL),(45769,'NCBI Gene PubMed Count',NULL,17779,NULL,NULL,NULL,12,NULL,NULL,NULL),(45770,'NCBI Gene PubMed Count',NULL,17780,NULL,NULL,NULL,47,NULL,NULL,NULL),(45771,'NCBI Gene Summary',NULL,17781,NULL,'Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45772,'NCBI Gene PubMed Count',NULL,17781,NULL,NULL,NULL,252,NULL,NULL,NULL),(45773,'NCBI Gene Summary',NULL,17782,NULL,'Huntingtin is a disease gene linked to Huntington\'s disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington\'s disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5\' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(45774,'NCBI Gene PubMed Count',NULL,17782,NULL,NULL,NULL,572,NULL,NULL,NULL),(45775,'NCBI Gene Summary',NULL,17783,NULL,'This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(45776,'NCBI Gene PubMed Count',NULL,17783,NULL,NULL,NULL,161,NULL,NULL,NULL),(45777,'NCBI Gene Summary',NULL,17784,NULL,'HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45778,'NCBI Gene PubMed Count',NULL,17784,NULL,NULL,NULL,14,NULL,NULL,NULL),(45779,'NCBI Gene Summary',NULL,17785,NULL,'The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45780,'NCBI Gene PubMed Count',NULL,17785,NULL,NULL,NULL,55,NULL,NULL,NULL),(45781,'NCBI Gene Summary',NULL,17786,NULL,'This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45782,'NCBI Gene PubMed Count',NULL,17786,NULL,NULL,NULL,28,NULL,NULL,NULL),(45783,'NCBI Gene PubMed Count',NULL,17787,NULL,NULL,NULL,9,NULL,NULL,NULL),(45784,'NCBI Gene Summary',NULL,17788,NULL,'The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior.  The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways.  GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45785,'NCBI Gene PubMed Count',NULL,17788,NULL,NULL,NULL,19,NULL,NULL,NULL),(45786,'NCBI Gene Summary',NULL,17789,NULL,'The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45787,'NCBI Gene PubMed Count',NULL,17789,NULL,NULL,NULL,47,NULL,NULL,NULL),(45788,'NCBI Gene Summary',NULL,17790,NULL,'The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(45789,'NCBI Gene PubMed Count',NULL,17790,NULL,NULL,NULL,16,NULL,NULL,NULL),(45790,'NCBI Gene PubMed Count',NULL,17791,NULL,NULL,NULL,8,NULL,NULL,NULL),(45791,'NCBI Gene Summary',NULL,17792,NULL,'This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45792,'NCBI Gene PubMed Count',NULL,17792,NULL,NULL,NULL,40,NULL,NULL,NULL),(45793,'NCBI Gene Summary',NULL,17793,NULL,'This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45794,'NCBI Gene PubMed Count',NULL,17793,NULL,NULL,NULL,149,NULL,NULL,NULL),(45795,'NCBI Gene Summary',NULL,17794,NULL,'The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(45796,'NCBI Gene PubMed Count',NULL,17794,NULL,NULL,NULL,28,NULL,NULL,NULL),(45797,'NCBI Gene Summary',NULL,17795,NULL,'The protein encoded by this gene is a glucagon receptor that is important in controlling blood glucose levels. Defects in this gene are a cause of non-insulin-dependent diabetes mellitus (NIDDM).[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(45798,'NCBI Gene PubMed Count',NULL,17795,NULL,NULL,NULL,49,NULL,NULL,NULL),(45799,'NCBI Gene Summary',NULL,17796,NULL,'The protein encoded by this gene is actually a preproprotein that is cleaved into four distinct mature peptides. One of these, glucagon, is a pancreatic hormone that counteracts the glucose-lowering action of insulin by stimulating glycogenolysis and gluconeogenesis. Glucagon is a ligand for a specific G-protein linked receptor whose signalling pathway controls cell proliferation. Two of the other peptides are secreted from gut endocrine cells and promote nutrient absorption through distinct mechanisms. Finally, the fourth peptide is similar to glicentin, an active enteroglucagon. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45800,'NCBI Gene PubMed Count',NULL,17796,NULL,NULL,NULL,286,NULL,NULL,NULL),(45801,'NCBI Gene PubMed Count',NULL,17797,NULL,NULL,NULL,13,NULL,NULL,NULL),(45802,'NCBI Gene Summary',NULL,17799,NULL,'The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(45803,'NCBI Gene PubMed Count',NULL,17799,NULL,NULL,NULL,79,NULL,NULL,NULL),(45804,'NCBI Gene PubMed Count',NULL,17800,NULL,NULL,NULL,0,NULL,NULL,NULL),(45805,'NCBI Gene Summary',NULL,17801,NULL,'This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]',NULL,NULL,NULL,NULL,NULL),(45806,'NCBI Gene PubMed Count',NULL,17801,NULL,NULL,NULL,31,NULL,NULL,NULL),(45807,'NCBI Gene PubMed Count',NULL,17802,NULL,NULL,NULL,7,NULL,NULL,NULL),(45808,'NCBI Gene PubMed Count',NULL,17803,NULL,NULL,NULL,6,NULL,NULL,NULL),(45809,'NCBI Gene Summary',NULL,17804,NULL,'This gene encodes a member of KDWK gene family which associates with GMEB2 protein. The GMEB1-GMEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar gene suggest that this gene\'s role is to modulate the transactivation of the glucocorticoid receptor when it is bound to glucocorticoid response elements. Three alternative spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(45810,'NCBI Gene PubMed Count',NULL,17804,NULL,NULL,NULL,21,NULL,NULL,NULL),(45811,'NCBI Gene Summary',NULL,17805,NULL,'This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(45812,'NCBI Gene PubMed Count',NULL,17805,NULL,NULL,NULL,168,NULL,NULL,NULL),(45813,'NCBI Gene PubMed Count',NULL,17806,NULL,NULL,NULL,4,NULL,NULL,NULL),(45814,'NCBI Gene Summary',NULL,17807,NULL,'This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(45815,'NCBI Gene PubMed Count',NULL,17807,NULL,NULL,NULL,23,NULL,NULL,NULL),(45816,'NCBI Gene Summary',NULL,17808,NULL,'The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(45817,'NCBI Gene PubMed Count',NULL,17808,NULL,NULL,NULL,45,NULL,NULL,NULL),(45818,'NCBI Gene Summary',NULL,17809,NULL,'The product of this gene transfers fucose to N-acetyllactosamine polysaccharides to generate fucosylated carbohydrate structures. It catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(45819,'NCBI Gene PubMed Count',NULL,17809,NULL,NULL,NULL,83,NULL,NULL,NULL),(45820,'NCBI Gene Summary',NULL,17810,NULL,'Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45821,'NCBI Gene PubMed Count',NULL,17810,NULL,NULL,NULL,20,NULL,NULL,NULL),(45822,'NCBI Gene Summary',NULL,17811,NULL,'The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45823,'NCBI Gene PubMed Count',NULL,17811,NULL,NULL,NULL,36,NULL,NULL,NULL),(45824,'NCBI Gene PubMed Count',NULL,17812,NULL,NULL,NULL,5,NULL,NULL,NULL),(45825,'NCBI Gene Summary',NULL,17813,NULL,'This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45826,'NCBI Gene PubMed Count',NULL,17813,NULL,NULL,NULL,20,NULL,NULL,NULL),(45827,'NCBI Gene PubMed Count',NULL,17814,NULL,NULL,NULL,1,NULL,NULL,NULL),(45828,'NCBI Gene Summary',NULL,17815,NULL,'The protein encoded by this gene is an adapter for the FYN protein and LCP2 signaling cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(45829,'NCBI Gene PubMed Count',NULL,17815,NULL,NULL,NULL,57,NULL,NULL,NULL),(45830,'NCBI Gene Summary',NULL,17816,NULL,'There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45831,'NCBI Gene PubMed Count',NULL,17816,NULL,NULL,NULL,45,NULL,NULL,NULL),(45832,'NCBI Gene Summary',NULL,17817,NULL,'This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45833,'NCBI Gene PubMed Count',NULL,17817,NULL,NULL,NULL,62,NULL,NULL,NULL),(45834,'NCBI Gene Summary',NULL,17818,NULL,'This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45835,'NCBI Gene PubMed Count',NULL,17818,NULL,NULL,NULL,331,NULL,NULL,NULL),(45836,'NCBI Gene Summary',NULL,17819,NULL,'This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45837,'NCBI Gene PubMed Count',NULL,17819,NULL,NULL,NULL,38,NULL,NULL,NULL),(45838,'NCBI Gene Summary',NULL,17820,NULL,'4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45839,'NCBI Gene PubMed Count',NULL,17820,NULL,NULL,NULL,35,NULL,NULL,NULL),(45840,'NCBI Gene Summary',NULL,17821,NULL,'This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(45841,'NCBI Gene PubMed Count',NULL,17821,NULL,NULL,NULL,79,NULL,NULL,NULL),(45842,'NCBI Gene Summary',NULL,17822,NULL,'This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(45843,'NCBI Gene PubMed Count',NULL,17822,NULL,NULL,NULL,34,NULL,NULL,NULL),(45844,'NCBI Gene PubMed Count',NULL,17823,NULL,NULL,NULL,6,NULL,NULL,NULL),(45845,'NCBI Gene Summary',NULL,17824,NULL,'This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45846,'NCBI Gene PubMed Count',NULL,17824,NULL,NULL,NULL,7,NULL,NULL,NULL),(45847,'NCBI Gene Summary',NULL,17825,NULL,'This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45848,'NCBI Gene PubMed Count',NULL,17825,NULL,NULL,NULL,9,NULL,NULL,NULL),(45849,'NCBI Gene Summary',NULL,17826,NULL,'The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(45850,'NCBI Gene PubMed Count',NULL,17826,NULL,NULL,NULL,36,NULL,NULL,NULL),(45851,'NCBI Gene Summary',NULL,17827,NULL,'The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(45852,'NCBI Gene PubMed Count',NULL,17827,NULL,NULL,NULL,130,NULL,NULL,NULL),(45853,'NCBI Gene Summary',NULL,17828,NULL,'This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(45854,'NCBI Gene PubMed Count',NULL,17828,NULL,NULL,NULL,17,NULL,NULL,NULL),(45855,'NCBI Gene Summary',NULL,17829,NULL,'This gene encodes a protein which has a neurotransmitter-gated ion-channel ligand binding domain. The encoded protein is very similar to a mouse protein which is a subunit of the retinal glycine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(45856,'NCBI Gene PubMed Count',NULL,17829,NULL,NULL,NULL,3,NULL,NULL,NULL),(45857,'NCBI Gene PubMed Count',NULL,17830,NULL,NULL,NULL,3,NULL,NULL,NULL),(45858,'NCBI Gene PubMed Count',NULL,17831,NULL,NULL,NULL,10,NULL,NULL,NULL),(45859,'NCBI Gene Summary',NULL,17832,NULL,'This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(45860,'NCBI Gene PubMed Count',NULL,17832,NULL,NULL,NULL,46,NULL,NULL,NULL),(45861,'NCBI Gene Summary',NULL,17833,NULL,'The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(45862,'NCBI Gene PubMed Count',NULL,17833,NULL,NULL,NULL,219,NULL,NULL,NULL),(45863,'NCBI Gene PubMed Count',NULL,17834,NULL,NULL,NULL,5,NULL,NULL,NULL),(45864,'NCBI Gene PubMed Count',NULL,17835,NULL,NULL,NULL,5,NULL,NULL,NULL),(45865,'NCBI Gene Summary',NULL,17836,NULL,'This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(45866,'NCBI Gene PubMed Count',NULL,17836,NULL,NULL,NULL,23,NULL,NULL,NULL),(45867,'NCBI Gene PubMed Count',NULL,17837,NULL,NULL,NULL,6,NULL,NULL,NULL),(45868,'NCBI Gene PubMed Count',NULL,17838,NULL,NULL,NULL,88,NULL,NULL,NULL),(45869,'NCBI Gene Summary',NULL,17839,NULL,'Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(45870,'NCBI Gene PubMed Count',NULL,17839,NULL,NULL,NULL,135,NULL,NULL,NULL),(45871,'NCBI Gene Summary',NULL,17840,NULL,'The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(45872,'NCBI Gene PubMed Count',NULL,17840,NULL,NULL,NULL,78,NULL,NULL,NULL),(45873,'NCBI Gene Summary',NULL,17841,NULL,'This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5\' exons. Some transcripts contain a differentially methylated region (DMR) at their 5\' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(45874,'NCBI Gene PubMed Count',NULL,17841,NULL,NULL,NULL,462,NULL,NULL,NULL),(45875,'NCBI Gene Summary',NULL,17842,NULL,'This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45876,'NCBI Gene PubMed Count',NULL,17842,NULL,NULL,NULL,28,NULL,NULL,NULL),(45877,'NCBI Gene Summary',NULL,17843,NULL,'The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(45878,'NCBI Gene PubMed Count',NULL,17843,NULL,NULL,NULL,29,NULL,NULL,NULL),(45879,'NCBI Gene Summary',NULL,17844,NULL,'The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein is associated with Sjogren\'s syndrome. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(45880,'NCBI Gene PubMed Count',NULL,17844,NULL,NULL,NULL,19,NULL,NULL,NULL),(45881,'NCBI Gene PubMed Count',NULL,17845,NULL,NULL,NULL,7,NULL,NULL,NULL),(45882,'NCBI Gene Summary',NULL,17846,NULL,'The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(45883,'NCBI Gene PubMed Count',NULL,17846,NULL,NULL,NULL,11,NULL,NULL,NULL),(45884,'NCBI Gene PubMed Count',NULL,17847,NULL,NULL,NULL,24,NULL,NULL,NULL),(45885,'NCBI Gene Summary',NULL,17848,NULL,'This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(45886,'NCBI Gene PubMed Count',NULL,17848,NULL,NULL,NULL,11,NULL,NULL,NULL),(45887,'NCBI Gene PubMed Count',NULL,17849,NULL,NULL,NULL,13,NULL,NULL,NULL),(45888,'NCBI Gene PubMed Count',NULL,17850,NULL,NULL,NULL,18,NULL,NULL,NULL),(45889,'NCBI Gene PubMed Count',NULL,17851,NULL,NULL,NULL,10,NULL,NULL,NULL),(45890,'NCBI Gene PubMed Count',NULL,17852,NULL,NULL,NULL,15,NULL,NULL,NULL),(45891,'NCBI Gene Summary',NULL,17853,NULL,'This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(45892,'NCBI Gene PubMed Count',NULL,17853,NULL,NULL,NULL,37,NULL,NULL,NULL),(45893,'NCBI Gene PubMed Count',NULL,17854,NULL,NULL,NULL,6,NULL,NULL,NULL),(45894,'NCBI Gene PubMed Count',NULL,17855,NULL,NULL,NULL,6,NULL,NULL,NULL),(45895,'NCBI Gene PubMed Count',NULL,17856,NULL,NULL,NULL,8,NULL,NULL,NULL),(45896,'NCBI Gene Summary',NULL,17857,NULL,'This gene was identified upon genomic analysis of a gene-dense region at human chromosome 12p13. It appears to be mainly expressed in the brain; however, its function is not known. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45897,'NCBI Gene PubMed Count',NULL,17857,NULL,NULL,NULL,7,NULL,NULL,NULL),(45898,'NCBI Gene Summary',NULL,17858,NULL,'This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(45899,'NCBI Gene PubMed Count',NULL,17858,NULL,NULL,NULL,62,NULL,NULL,NULL),(45900,'NCBI Gene PubMed Count',NULL,17859,NULL,NULL,NULL,7,NULL,NULL,NULL),(45901,'NCBI Gene PubMed Count',NULL,17860,NULL,NULL,NULL,8,NULL,NULL,NULL),(45902,'NCBI Gene Summary',NULL,17861,NULL,'This gene encodes an orphan member of the class A rhodopsin-like family of G-protein-coupled receptors (GPCRs). Within the rhodopsin-like family, this gene is a member of the vasopressin-like subfamily that also includes vasopressin and oxytocin receptors. The silencing of this gene, due to promoter methylation, is associated with ovarian cancer progression. All GPCRs have a transmembrane domain that includes seven transmembrane alpha-helices. A general feature of GPCR signaling is the agonist-induced conformational change in the receptor, leading to activation of the heterotrimeric G protein. The activated G protein then binds to and activates numerous downstream effector proteins, which generate second messengers that mediate a broad range of cellular and physiological processes. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(45903,'NCBI Gene PubMed Count',NULL,17861,NULL,NULL,NULL,7,NULL,NULL,NULL),(45904,'NCBI Gene Summary',NULL,17862,NULL,'This gene encodes an integral membrane protein that belongs to the Class A rhodopsin superfamily of G protein coupled receptors. The encoded protein is expressed primarily in the central nervous system. A knockdown of the orthologous gene in rat is associated with a significant reduction in food intake and impaired decision making ability. Mutations in this gene are associated with schizophrenia, autism, and other neuropsychiatric disorders. The expression of this gene is activated by the glioma-associated oncogene homolog 1 transcription factor which, in turn, is activated by sonic hedgehog in normal and tumorigenic cells. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(45905,'NCBI Gene PubMed Count',NULL,17862,NULL,NULL,NULL,10,NULL,NULL,NULL),(45906,'NCBI Gene Summary',NULL,17863,NULL,'This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45907,'NCBI Gene PubMed Count',NULL,17863,NULL,NULL,NULL,10,NULL,NULL,NULL),(45908,'NCBI Gene Summary',NULL,17864,NULL,'Adrenomedullin is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protein that belongs to the family 1 of G-protein coupled receptors. Studies of the rat counterpart suggest that the encoded protein may function as a receptor for adrenomedullin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45909,'NCBI Gene PubMed Count',NULL,17864,NULL,NULL,NULL,20,NULL,NULL,NULL),(45910,'NCBI Gene PubMed Count',NULL,17865,NULL,NULL,NULL,5,NULL,NULL,NULL),(45911,'NCBI Gene PubMed Count',NULL,17866,NULL,NULL,NULL,6,NULL,NULL,NULL),(45912,'NCBI Gene PubMed Count',NULL,17867,NULL,NULL,NULL,7,NULL,NULL,NULL),(45913,'NCBI Gene PubMed Count',NULL,17868,NULL,NULL,NULL,8,NULL,NULL,NULL),(45914,'NCBI Gene Summary',NULL,17869,NULL,'This gene encodes an integral membrane protein that is secreted from intracellular zymogen granules and associates with the plasma membrane via glycosylphosphatidylinositol (GPI) linkage. The encoded protein binds pathogens such as enterobacteria, thereby playing an important role in the innate immune response. The C-terminus of this protein is related to the C-terminus of the protein encoded by the neighboring gene, uromodulin (UMOD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(45915,'NCBI Gene PubMed Count',NULL,17869,NULL,NULL,NULL,31,NULL,NULL,NULL),(45916,'NCBI Gene Summary',NULL,17870,NULL,'The protein encoded by this gene belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45917,'NCBI Gene PubMed Count',NULL,17870,NULL,NULL,NULL,36,NULL,NULL,NULL),(45918,'NCBI Gene Summary',NULL,17871,NULL,'N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream FAM188B (family with sequence similarity 188, member B) gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(45919,'NCBI Gene PubMed Count',NULL,17871,NULL,NULL,NULL,16,NULL,NULL,NULL),(45920,'NCBI Gene Summary',NULL,17872,NULL,'GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45921,'NCBI Gene PubMed Count',NULL,17872,NULL,NULL,NULL,13,NULL,NULL,NULL),(45922,'NCBI Gene Summary',NULL,17873,NULL,'This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(45923,'NCBI Gene PubMed Count',NULL,17873,NULL,NULL,NULL,332,NULL,NULL,NULL),(45924,'NCBI Gene Summary',NULL,17874,NULL,'The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked, flattened membrane sacs referred to as cisternae. Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins constitute a family of proteins which are localized to the Golgi. This gene encodes a golgin which structurally resembles its family member GOLGA2, suggesting that they may share a similar function. There are many similar copies of this gene on chromosome 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(45925,'NCBI Gene PubMed Count',NULL,17874,NULL,NULL,NULL,7,NULL,NULL,NULL),(45926,'NCBI Gene PubMed Count',NULL,17875,NULL,NULL,NULL,9,NULL,NULL,NULL),(45927,'NCBI Gene PubMed Count',NULL,17876,NULL,NULL,NULL,5,NULL,NULL,NULL),(45928,'NCBI Gene PubMed Count',NULL,17877,NULL,NULL,NULL,5,NULL,NULL,NULL),(45929,'NCBI Gene PubMed Count',NULL,17878,NULL,NULL,NULL,3,NULL,NULL,NULL),(45930,'NCBI Gene Summary',NULL,17879,NULL,'This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(45931,'NCBI Gene PubMed Count',NULL,17879,NULL,NULL,NULL,18,NULL,NULL,NULL),(45932,'NCBI Gene Summary',NULL,17880,NULL,'The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(45933,'NCBI Gene PubMed Count',NULL,17880,NULL,NULL,NULL,82,NULL,NULL,NULL),(45934,'NCBI Gene PubMed Count',NULL,17881,NULL,NULL,NULL,15,NULL,NULL,NULL),(45935,'NCBI Gene PubMed Count',NULL,17882,NULL,NULL,NULL,35,NULL,NULL,NULL),(45936,'NCBI Gene Summary',NULL,17883,NULL,'The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45937,'NCBI Gene PubMed Count',NULL,17883,NULL,NULL,NULL,18,NULL,NULL,NULL),(45938,'NCBI Gene Summary',NULL,17884,NULL,'This gene encodes a preproprotein that is proteolytically processed to generate a peptide that is a member of the gonadotropin-releasing hormone (GnRH) family of peptides. Alternative splicing results in multiple transcript variants, at least one of which is secreted and then cleaved to generate gonadoliberin-1 and GnRH-associated peptide 1. Gonadoliberin-1 stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutations in this gene are associated with hypogonadotropic hypogonadism. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(45939,'NCBI Gene PubMed Count',NULL,17884,NULL,NULL,NULL,122,NULL,NULL,NULL),(45940,'NCBI Gene Summary',NULL,17885,NULL,'The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(45941,'NCBI Gene PubMed Count',NULL,17885,NULL,NULL,NULL,102,NULL,NULL,NULL),(45942,'NCBI Gene Summary',NULL,17886,NULL,'The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45943,'NCBI Gene PubMed Count',NULL,17886,NULL,NULL,NULL,74,NULL,NULL,NULL),(45944,'NCBI Gene Summary',NULL,17887,NULL,'This gene is a member of the gonadotropin-releasing hormone (GnRH) gene family. Proteins encoded by members of this gene family are proteolytically cleaved to form neuropeptides which, in part, regulate reproductive functions by stimulating the production and release of the gonadotropins follicle-stimulating hormone (FSH) and luteinizing hormone (LH). The human GNRH2 gene is predicted to encode a preproprotein from which a mature neuropeptide of 10 amino acids is cleaved. However, while the human genome retains the sequence for a functional GNRH2 decapeptide, translation of the human GNRH2 gene has not yet been demonstrated and the GNRH2 gene of chimpanzees, gorilla, and Sumatran orangutan have a premature stop at codon eight of the decapeptide sequence which suggests GNRH2 was a pseudogene in the hominid lineage. The GNRH2 gene is also believed to be a pseudogene in many other mammalian species such as mouse and cow. The receptor for this gene (GNRHR2) is predicted to be a pseudogene in human as well as many other mammalian species. The closely related GNRH1 and GNRHR1 genes are functional in human and other mammals and are generally functional in vertebrates. [provided by RefSeq, Mar 2019]',NULL,NULL,NULL,NULL,NULL),(45945,'NCBI Gene PubMed Count',NULL,17887,NULL,NULL,NULL,56,NULL,NULL,NULL),(45946,'NCBI Gene PubMed Count',NULL,17888,NULL,NULL,NULL,9,NULL,NULL,NULL),(45947,'NCBI Gene Summary',NULL,17889,NULL,'This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45948,'NCBI Gene PubMed Count',NULL,17889,NULL,NULL,NULL,35,NULL,NULL,NULL),(45949,'NCBI Gene Summary',NULL,17890,NULL,'This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45950,'NCBI Gene PubMed Count',NULL,17890,NULL,NULL,NULL,22,NULL,NULL,NULL),(45951,'NCBI Gene Summary',NULL,17891,NULL,'The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The encoded protein also functions as an antiviral factor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45952,'NCBI Gene PubMed Count',NULL,17891,NULL,NULL,NULL,145,NULL,NULL,NULL),(45953,'NCBI Gene Summary',NULL,17892,NULL,'This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(45954,'NCBI Gene PubMed Count',NULL,17892,NULL,NULL,NULL,33,NULL,NULL,NULL),(45955,'NCBI Gene Summary',NULL,17893,NULL,'This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(45956,'NCBI Gene PubMed Count',NULL,17893,NULL,NULL,NULL,52,NULL,NULL,NULL),(45957,'NCBI Gene PubMed Count',NULL,17894,NULL,NULL,NULL,14,NULL,NULL,NULL),(45958,'NCBI Gene Summary',NULL,17895,NULL,'The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(45959,'NCBI Gene PubMed Count',NULL,17895,NULL,NULL,NULL,46,NULL,NULL,NULL),(45960,'NCBI Gene Summary',NULL,17896,NULL,'The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(45961,'NCBI Gene PubMed Count',NULL,17896,NULL,NULL,NULL,18,NULL,NULL,NULL),(45962,'NCBI Gene PubMed Count',NULL,17897,NULL,NULL,NULL,8,NULL,NULL,NULL),(45963,'NCBI Gene Summary',NULL,17898,NULL,'In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and \'passenger,\' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term \'passenger proteins\' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45964,'NCBI Gene PubMed Count',NULL,17898,NULL,NULL,NULL,50,NULL,NULL,NULL),(45965,'NCBI Gene Summary',NULL,17899,NULL,'This gene encodes a member of the rhodopsin subfamily of G-protein-coupled receptors that is expressed in the pancreas and gastrointestinal tract. The encoded protein is activated by lipid amides including lysophosphatidylcholine and oleoylethanolamide and may be involved in glucose homeostasis. This protein is a potential drug target in the treatment of type 2 diabetes.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(45966,'NCBI Gene PubMed Count',NULL,17899,NULL,NULL,NULL,26,NULL,NULL,NULL),(45967,'NCBI Gene Summary',NULL,17900,NULL,'This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein was reported to be a receptor for lysophosphatidylcholine action, but PubMedID: 15653487 retracts this finding and instead suggests this protein to be an effector of lysophosphatidylcholine action. This protein may have proton-sensing activity and may be a receptor for oxidized free fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(45968,'NCBI Gene PubMed Count',NULL,17900,NULL,NULL,NULL,23,NULL,NULL,NULL),(45969,'NCBI Gene Summary',NULL,17901,NULL,'This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mutations in this gene may be associated with male infertility and premature ovarian failure in female human patients. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(45970,'NCBI Gene PubMed Count',NULL,17901,NULL,NULL,NULL,155,NULL,NULL,NULL),(45971,'NCBI Gene Summary',NULL,17902,NULL,'GPR141 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(45972,'NCBI Gene PubMed Count',NULL,17902,NULL,NULL,NULL,8,NULL,NULL,NULL),(45973,'NCBI Gene Summary',NULL,17903,NULL,'This gene encodes a seven-transmembrane G protein coupled receptor (GPCR) class A family member. Although categorized as a class A GPCR, the encoded protein lacks the first two charged amino acids of the highly conserved Asp-Arg-Tyr (DRY) motif found in the third transmembrane helix of class A receptors which is important for efficient G protein-coupled signal transduction. Mice with a knockout of the orthologous gene are viable and have normal maturation of the ovarian follicle, but show enhanced fertility and ovulation. All GPCRs have a common structural architecture consisting of seven transmembrane alpha-helices interconnected by three extracellular and three intracellular loops. A general feature of GPCR signaling is agonist-induced conformational changes in the receptor, leading to activation of the heterotrimeric G proteins, which consist of the guanine nucleotide-binding G-alpha subunit and the dimeric G-beta-gamma subunits. The activated G proteins then bind to and activate numerous downstream effector proteins, which generate second messengers that mediate a broad range of cellular and physiological processes. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(45974,'NCBI Gene PubMed Count',NULL,17903,NULL,NULL,NULL,12,NULL,NULL,NULL),(45975,'NCBI Gene Summary',NULL,17904,NULL,'This gene encodes an orphan member of the class A rhodopsin-like family of G-protein-coupled receptors (GPCRs). Within the rhodopsin-like family, this gene is a member of the SOG subfamily that includes somatostatin, opioid, galanin, and kisspeptin receptors. The orthologous mouse gene has a restricted pattern of neuronal expression which is induced following nerve injury. All GPCRs have a transmembrane domain that includes seven transmembrane alpha-helices. A general feature of GPCR signaling is the agonist-induced conformational change in the receptor, leading to activation of the heterotrimeric G protein. The activated G protein then binds to and activates numerous downstream effector proteins, which generate second messengers that mediate a broad range of cellular and physiological processes. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(45976,'NCBI Gene PubMed Count',NULL,17904,NULL,NULL,NULL,11,NULL,NULL,NULL),(45977,'NCBI Gene Summary',NULL,17905,NULL,'Members of the G protein-coupled receptor family, such as GPR176, are cell surface receptors involved in responses to hormones, growth factors, and neurotransmitters (Hata et al., 1995 [PubMed 7893747]).[supplied by OMIM, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45978,'NCBI Gene PubMed Count',NULL,17905,NULL,NULL,NULL,7,NULL,NULL,NULL),(45979,'NCBI Gene Summary',NULL,17906,NULL,'This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45980,'NCBI Gene PubMed Count',NULL,17906,NULL,NULL,NULL,23,NULL,NULL,NULL),(45981,'NCBI Gene Summary',NULL,17907,NULL,'This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of homodimeric and heterodimeric activin complexes. The heterodimeric complex may function in the inhibition of activin A signaling. Transgenic mice overexpressing this gene exhibit defects in testis, liver and prostate. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(45982,'NCBI Gene PubMed Count',NULL,17907,NULL,NULL,NULL,33,NULL,NULL,NULL),(45983,'NCBI Gene Summary',NULL,17908,NULL,'This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate an inhibin beta subunit. Inhibins have been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. This gene may be upregulated under conditions of endoplasmic reticulum stress, and this protein may inhibit cellular proliferation and growth in pancreas and liver. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(45984,'NCBI Gene PubMed Count',NULL,17908,NULL,NULL,NULL,18,NULL,NULL,NULL),(45985,'NCBI Gene Summary',NULL,17909,NULL,'Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(45986,'NCBI Gene PubMed Count',NULL,17909,NULL,NULL,NULL,316,NULL,NULL,NULL),(45987,'NCBI Gene Summary',NULL,17910,NULL,'Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(45988,'NCBI Gene PubMed Count',NULL,17910,NULL,NULL,NULL,68,NULL,NULL,NULL),(45989,'NCBI Gene Summary',NULL,17911,NULL,'This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway\'s first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(45990,'NCBI Gene PubMed Count',NULL,17911,NULL,NULL,NULL,26,NULL,NULL,NULL),(45991,'NCBI Gene PubMed Count',NULL,17912,NULL,NULL,NULL,8,NULL,NULL,NULL),(45992,'NCBI Gene PubMed Count',NULL,17913,NULL,NULL,NULL,12,NULL,NULL,NULL),(45993,'NCBI Gene Summary',NULL,17914,NULL,'This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(45994,'NCBI Gene PubMed Count',NULL,17914,NULL,NULL,NULL,14,NULL,NULL,NULL),(45995,'NCBI Gene Summary',NULL,17915,NULL,'Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation.  The GPC4 gene is adjacent to the 3\' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(45996,'NCBI Gene PubMed Count',NULL,17915,NULL,NULL,NULL,25,NULL,NULL,NULL),(45997,'NCBI Gene Summary',NULL,17916,NULL,'This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(45998,'NCBI Gene PubMed Count',NULL,17916,NULL,NULL,NULL,25,NULL,NULL,NULL),(45999,'NCBI Gene Summary',NULL,17917,NULL,'Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(46000,'NCBI Gene PubMed Count',NULL,17917,NULL,NULL,NULL,12,NULL,NULL,NULL),(46001,'NCBI Gene PubMed Count',NULL,17918,NULL,NULL,NULL,5,NULL,NULL,NULL),(46002,'NCBI Gene Summary',NULL,17919,NULL,'The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(46003,'NCBI Gene PubMed Count',NULL,17919,NULL,NULL,NULL,22,NULL,NULL,NULL),(46004,'NCBI Gene Summary',NULL,17920,NULL,'This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46005,'NCBI Gene PubMed Count',NULL,17920,NULL,NULL,NULL,23,NULL,NULL,NULL),(46006,'NCBI Gene Summary',NULL,17921,NULL,'In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46007,'NCBI Gene PubMed Count',NULL,17921,NULL,NULL,NULL,12,NULL,NULL,NULL),(46008,'NCBI Gene Summary',NULL,17922,NULL,'This gene encodes an endoplasmic reticulum membrane protein that regulates cholesterol metabolism, lipogenesis, and glucose homeostasis. The encoded protein has six transmembrane helices which contain an effector protein binding site. It binds the sterol-sensing domains of sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase), and is essential for the sterol-mediated trafficking of these two proteins. It promotes the endoplasmic reticulum retention of SCAP and the ubiquitin-mediated degradation of HMG-CoA reductase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(46009,'NCBI Gene PubMed Count',NULL,17922,NULL,NULL,NULL,54,NULL,NULL,NULL),(46010,'NCBI Gene Summary',NULL,17923,NULL,'This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(46011,'NCBI Gene PubMed Count',NULL,17923,NULL,NULL,NULL,26,NULL,NULL,NULL),(46012,'NCBI Gene Summary',NULL,17924,NULL,'The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46013,'NCBI Gene PubMed Count',NULL,17924,NULL,NULL,NULL,21,NULL,NULL,NULL),(46014,'NCBI Gene PubMed Count',NULL,17925,NULL,NULL,NULL,2,NULL,NULL,NULL),(46015,'NCBI Gene Summary',NULL,17926,NULL,'This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5\' region and with the IGF2 gene at the 3\' region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019]',NULL,NULL,NULL,NULL,NULL),(46016,'NCBI Gene PubMed Count',NULL,17926,NULL,NULL,NULL,858,NULL,NULL,NULL),(46017,'NCBI Gene Summary',NULL,17927,NULL,'The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46018,'NCBI Gene PubMed Count',NULL,17927,NULL,NULL,NULL,20,NULL,NULL,NULL),(46019,'NCBI Gene Summary',NULL,17928,NULL,'The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(46020,'NCBI Gene PubMed Count',NULL,17928,NULL,NULL,NULL,25,NULL,NULL,NULL),(46021,'NCBI Gene Summary',NULL,17929,NULL,'GPHB5 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46022,'NCBI Gene PubMed Count',NULL,17929,NULL,NULL,NULL,11,NULL,NULL,NULL),(46023,'NCBI Gene Summary',NULL,17930,NULL,'Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase.  This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46024,'NCBI Gene PubMed Count',NULL,17930,NULL,NULL,NULL,59,NULL,NULL,NULL),(46025,'NCBI Gene Summary',NULL,17931,NULL,'This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(46026,'NCBI Gene PubMed Count',NULL,17931,NULL,NULL,NULL,15,NULL,NULL,NULL),(46027,'NCBI Gene Summary',NULL,17932,NULL,'The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3\',5-triiodothyronine (T3) to inactive metabolites, 3,3\',5\'-triiodothyronine (RT3) and 3,3\'-diiodothyronine (T2), respectively. This enzyme is highly expressed in pregnant uterus, placenta, fetal and neonatal tissues, and thought to prevent premature exposure of developing fetal tissues to adult levels of thyroid hormones. It regulates circulating fetal thyroid hormone concentrations, and thus plays a critical role in mammalian development. Knockout mice lacking this gene exhibit abnormalities related to development and reproduction, and increased activity of this enzyme in infants with hemangiomas causes severe hypothyroidism. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(46028,'NCBI Gene PubMed Count',NULL,17932,NULL,NULL,NULL,45,NULL,NULL,NULL),(46029,'NCBI Gene Summary',NULL,17933,NULL,'The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46030,'NCBI Gene PubMed Count',NULL,17933,NULL,NULL,NULL,23,NULL,NULL,NULL),(46031,'NCBI Gene Summary',NULL,17934,NULL,'This gene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(46032,'NCBI Gene PubMed Count',NULL,17934,NULL,NULL,NULL,14,NULL,NULL,NULL),(46033,'NCBI Gene Summary',NULL,17935,NULL,'This gene encodes a member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(46034,'NCBI Gene PubMed Count',NULL,17935,NULL,NULL,NULL,28,NULL,NULL,NULL),(46035,'NCBI Gene Summary',NULL,17936,NULL,'Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(46036,'NCBI Gene PubMed Count',NULL,17936,NULL,NULL,NULL,18,NULL,NULL,NULL),(46037,'NCBI Gene PubMed Count',NULL,17937,NULL,NULL,NULL,18,NULL,NULL,NULL),(46038,'NCBI Gene Summary',NULL,17938,NULL,'The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Ran\'s GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46039,'NCBI Gene PubMed Count',NULL,17938,NULL,NULL,NULL,36,NULL,NULL,NULL),(46040,'NCBI Gene Summary',NULL,17939,NULL,'This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46041,'NCBI Gene PubMed Count',NULL,17939,NULL,NULL,NULL,38,NULL,NULL,NULL),(46042,'NCBI Gene Summary',NULL,17940,NULL,'This gene encodes a long non-coding RNA (lncRNA) that may function as a tumor suppressor. Mutations in this gene have been identified in human papillary thyroid carcinoma (PTC) patients that abrogate the ability of encoded lncRNA to inhibit cancer cell growth. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(46043,'NCBI Gene PubMed Count',NULL,17940,NULL,NULL,NULL,6,NULL,NULL,NULL),(46044,'NCBI Gene Summary',NULL,17941,NULL,'The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(46045,'NCBI Gene PubMed Count',NULL,17941,NULL,NULL,NULL,129,NULL,NULL,NULL),(46046,'NCBI Gene Summary',NULL,17942,NULL,'This gene encodes a member of the growth arrest-specific 2 protein family. This protein binds components of the cytoskeleton and may be involved in mediating interactions between microtubules and microfilaments. This protein localizes to the proximal end of mature centrioles and links centrosomes to both microtubules and actin. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(46047,'NCBI Gene PubMed Count',NULL,17942,NULL,NULL,NULL,13,NULL,NULL,NULL),(46048,'NCBI Gene PubMed Count',NULL,17943,NULL,NULL,NULL,7,NULL,NULL,NULL),(46049,'NCBI Gene PubMed Count',NULL,17945,NULL,NULL,NULL,4,NULL,NULL,NULL),(46050,'NCBI Gene Summary',NULL,17946,NULL,'Galanin is an important neuromodulator present in the brain, gastrointestinal system, and hypothalamopituitary axis. It is a 30-amino acid non-C-terminally amidated peptide that potently stimulates growth hormone secretion, inhibits cardiac vagal slowing of heart rate, abolishes sinus arrhythmia, and inhibits postprandial gastrointestinal motility. The actions of galanin are mediated through interaction with specific membrane receptors that are members of the 7-transmembrane family of G protein-coupled receptors. GALR2 interacts with the N-terminal residues of the galanin peptide. The primary signaling mechanism for GALR2 is through the phospholipase C/protein kinase C pathway (via Gq), in contrast to GALR1, which communicates its intracellular signal by inhibition of adenylyl cyclase through Gi. However, it has been demonstrated that GALR2 couples efficiently to both the Gq and Gi proteins to simultaneously activate 2 independent signal transduction pathways. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46051,'NCBI Gene PubMed Count',NULL,17946,NULL,NULL,NULL,32,NULL,NULL,NULL),(46052,'NCBI Gene Summary',NULL,17947,NULL,'This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46053,'NCBI Gene PubMed Count',NULL,17947,NULL,NULL,NULL,32,NULL,NULL,NULL),(46054,'NCBI Gene Summary',NULL,17948,NULL,'This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(46055,'NCBI Gene PubMed Count',NULL,17948,NULL,NULL,NULL,118,NULL,NULL,NULL),(46056,'NCBI Gene Summary',NULL,17949,NULL,'This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46057,'NCBI Gene PubMed Count',NULL,17949,NULL,NULL,NULL,32,NULL,NULL,NULL),(46058,'NCBI Gene Summary',NULL,17950,NULL,'This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46059,'NCBI Gene PubMed Count',NULL,17950,NULL,NULL,NULL,25,NULL,NULL,NULL),(46060,'NCBI Gene Summary',NULL,17951,NULL,'This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(46061,'NCBI Gene PubMed Count',NULL,17951,NULL,NULL,NULL,36,NULL,NULL,NULL),(46062,'NCBI Gene Summary',NULL,17952,NULL,'Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46063,'NCBI Gene PubMed Count',NULL,17952,NULL,NULL,NULL,109,NULL,NULL,NULL),(46064,'NCBI Gene Summary',NULL,17953,NULL,'The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(46065,'NCBI Gene PubMed Count',NULL,17953,NULL,NULL,NULL,95,NULL,NULL,NULL),(46066,'NCBI Gene Summary',NULL,17954,NULL,'The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(46067,'NCBI Gene PubMed Count',NULL,17954,NULL,NULL,NULL,59,NULL,NULL,NULL),(46068,'NCBI Gene PubMed Count',NULL,17955,NULL,NULL,NULL,4,NULL,NULL,NULL),(46069,'NCBI Gene PubMed Count',NULL,17956,NULL,NULL,NULL,12,NULL,NULL,NULL),(46070,'NCBI Gene Summary',NULL,17957,NULL,'This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46071,'NCBI Gene PubMed Count',NULL,17957,NULL,NULL,NULL,92,NULL,NULL,NULL),(46072,'NCBI Gene PubMed Count',NULL,17958,NULL,NULL,NULL,18,NULL,NULL,NULL),(46073,'NCBI Gene Summary',NULL,17959,NULL,'L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46074,'NCBI Gene PubMed Count',NULL,17959,NULL,NULL,NULL,91,NULL,NULL,NULL),(46075,'NCBI Gene Summary',NULL,17960,NULL,'L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Mutations in this gene result in congenital stationary night blindness type 1B. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(46076,'NCBI Gene PubMed Count',NULL,17960,NULL,NULL,NULL,27,NULL,NULL,NULL),(46077,'NCBI Gene Summary',NULL,17961,NULL,'The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body\'s response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(46078,'NCBI Gene PubMed Count',NULL,17961,NULL,NULL,NULL,269,NULL,NULL,NULL),(46079,'NCBI Gene Summary',NULL,17962,NULL,'IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46080,'NCBI Gene PubMed Count',NULL,17962,NULL,NULL,NULL,68,NULL,NULL,NULL),(46081,'NCBI Gene Summary',NULL,17963,NULL,'This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(46082,'NCBI Gene PubMed Count',NULL,17963,NULL,NULL,NULL,223,NULL,NULL,NULL),(46083,'NCBI Gene Summary',NULL,17964,NULL,'This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(46084,'NCBI Gene PubMed Count',NULL,17964,NULL,NULL,NULL,151,NULL,NULL,NULL),(46085,'NCBI Gene Summary',NULL,17965,NULL,'This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(46086,'NCBI Gene PubMed Count',NULL,17965,NULL,NULL,NULL,58,NULL,NULL,NULL),(46087,'NCBI Gene Summary',NULL,17966,NULL,'Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(46088,'NCBI Gene PubMed Count',NULL,17966,NULL,NULL,NULL,110,NULL,NULL,NULL),(46089,'NCBI Gene Summary',NULL,17967,NULL,'Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46090,'NCBI Gene PubMed Count',NULL,17967,NULL,NULL,NULL,7,NULL,NULL,NULL),(46091,'NCBI Gene Summary',NULL,17968,NULL,'This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(46092,'NCBI Gene PubMed Count',NULL,17968,NULL,NULL,NULL,71,NULL,NULL,NULL),(46093,'NCBI Gene Summary',NULL,17969,NULL,'Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual\'s susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(46094,'NCBI Gene PubMed Count',NULL,17969,NULL,NULL,NULL,150,NULL,NULL,NULL),(46095,'NCBI Gene Summary',NULL,17970,NULL,'The protein encoded by this gene, glutathione S-transferase (GST) theta 1 (GSTT1), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT1 and GSTT2/GSTT2B share 55% amino acid sequence identity and may play a role in human carcinogenesis. The GSTT1 gene is haplotype-specific and is absent from 38% of the population. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(46096,'NCBI Gene PubMed Count',NULL,17970,NULL,NULL,NULL,1764,NULL,NULL,NULL),(46097,'NCBI Gene PubMed Count',NULL,17971,NULL,NULL,NULL,30,NULL,NULL,NULL),(46098,'NCBI Gene Summary',NULL,17972,NULL,'This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. Variants of this gene are associated with idiopathic ventricular fibrillation and Brugada syndrome. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(46099,'NCBI Gene PubMed Count',NULL,17972,NULL,NULL,NULL,18,NULL,NULL,NULL),(46100,'NCBI Gene Summary',NULL,17973,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46101,'NCBI Gene PubMed Count',NULL,17973,NULL,NULL,NULL,6,NULL,NULL,NULL),(46102,'NCBI Gene Summary',NULL,17974,NULL,'This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46103,'NCBI Gene PubMed Count',NULL,17974,NULL,NULL,NULL,563,NULL,NULL,NULL),(46104,'NCBI Gene PubMed Count',NULL,17975,NULL,NULL,NULL,6,NULL,NULL,NULL),(46105,'NCBI Gene Summary',NULL,17976,NULL,'Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46106,'NCBI Gene PubMed Count',NULL,17976,NULL,NULL,NULL,56,NULL,NULL,NULL),(46107,'NCBI Gene Summary',NULL,17977,NULL,'This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(46108,'NCBI Gene PubMed Count',NULL,17977,NULL,NULL,NULL,117,NULL,NULL,NULL),(46109,'NCBI Gene Summary',NULL,17978,NULL,'In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46110,'NCBI Gene PubMed Count',NULL,17978,NULL,NULL,NULL,19,NULL,NULL,NULL),(46111,'NCBI Gene Summary',NULL,17979,NULL,'This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(46112,'NCBI Gene PubMed Count',NULL,17979,NULL,NULL,NULL,76,NULL,NULL,NULL),(46113,'NCBI Gene Summary',NULL,17980,NULL,'The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(46114,'NCBI Gene PubMed Count',NULL,17980,NULL,NULL,NULL,23,NULL,NULL,NULL),(46115,'NCBI Gene Summary',NULL,17981,NULL,'Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(46116,'NCBI Gene PubMed Count',NULL,17981,NULL,NULL,NULL,14,NULL,NULL,NULL),(46117,'NCBI Gene Summary',NULL,17982,NULL,'The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is expressed predominantly in the pancreas and is activated at alkaline pH. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(46118,'NCBI Gene PubMed Count',NULL,17982,NULL,NULL,NULL,14,NULL,NULL,NULL),(46119,'NCBI Gene Summary',NULL,17983,NULL,'Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(46120,'NCBI Gene PubMed Count',NULL,17983,NULL,NULL,NULL,32,NULL,NULL,NULL),(46121,'NCBI Gene PubMed Count',NULL,17984,NULL,NULL,NULL,11,NULL,NULL,NULL),(46122,'NCBI Gene Summary',NULL,17985,NULL,'This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(46123,'NCBI Gene PubMed Count',NULL,17985,NULL,NULL,NULL,14,NULL,NULL,NULL),(46124,'NCBI Gene Summary',NULL,17986,NULL,'The glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46125,'NCBI Gene PubMed Count',NULL,17986,NULL,NULL,NULL,23,NULL,NULL,NULL),(46126,'NCBI Gene PubMed Count',NULL,17987,NULL,NULL,NULL,2,NULL,NULL,NULL),(46127,'NCBI Gene Summary',NULL,17988,NULL,'This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(46128,'NCBI Gene PubMed Count',NULL,17988,NULL,NULL,NULL,20,NULL,NULL,NULL),(46129,'NCBI Gene Summary',NULL,17989,NULL,'Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46130,'NCBI Gene PubMed Count',NULL,17989,NULL,NULL,NULL,51,NULL,NULL,NULL),(46131,'NCBI Gene Summary',NULL,17990,NULL,'Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(46132,'NCBI Gene PubMed Count',NULL,17990,NULL,NULL,NULL,185,NULL,NULL,NULL),(46133,'NCBI Gene Summary',NULL,17991,NULL,'Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46134,'NCBI Gene PubMed Count',NULL,17991,NULL,NULL,NULL,57,NULL,NULL,NULL),(46135,'NCBI Gene Summary',NULL,17992,NULL,'Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(46136,'NCBI Gene PubMed Count',NULL,17992,NULL,NULL,NULL,27,NULL,NULL,NULL),(46137,'NCBI Gene Summary',NULL,17993,NULL,'This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(46138,'NCBI Gene PubMed Count',NULL,17993,NULL,NULL,NULL,23,NULL,NULL,NULL),(46139,'NCBI Gene Summary',NULL,17994,NULL,'The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46140,'NCBI Gene PubMed Count',NULL,17994,NULL,NULL,NULL,6,NULL,NULL,NULL),(46141,'NCBI Gene PubMed Count',NULL,17995,NULL,NULL,NULL,4,NULL,NULL,NULL),(46142,'NCBI Gene Summary',NULL,17996,NULL,'This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5\' region and to the IGF2 gene in the 3\' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46143,'NCBI Gene PubMed Count',NULL,17996,NULL,NULL,NULL,22,NULL,NULL,NULL),(46144,'NCBI Gene Summary',NULL,17997,NULL,'INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46145,'NCBI Gene PubMed Count',NULL,17997,NULL,NULL,NULL,12,NULL,NULL,NULL),(46146,'NCBI Gene Summary',NULL,17998,NULL,'INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46147,'NCBI Gene PubMed Count',NULL,17998,NULL,NULL,NULL,12,NULL,NULL,NULL),(46148,'NCBI Gene PubMed Count',NULL,17999,NULL,NULL,NULL,15,NULL,NULL,NULL),(46149,'NCBI Gene PubMed Count',NULL,18000,NULL,NULL,NULL,9,NULL,NULL,NULL),(46150,'NCBI Gene Summary',NULL,18001,NULL,'INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46151,'NCBI Gene PubMed Count',NULL,18001,NULL,NULL,NULL,11,NULL,NULL,NULL),(46152,'NCBI Gene Summary',NULL,18002,NULL,'INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46153,'NCBI Gene PubMed Count',NULL,18002,NULL,NULL,NULL,14,NULL,NULL,NULL),(46154,'NCBI Gene Summary',NULL,18003,NULL,'The protein encoded by this gene can form a complex with human single-strand DNA binding proteins 1 or 2 (hSSB1 and hSSB2) and other proteins to mediate genome stability and the DNA damage response. The encoded protein is also part of a multiprotein complex that interacts with the C-terminal domain of RNA polymerase II large subunit to help regulate processing of U1 and U2 small nuclear RNAs. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(46155,'NCBI Gene PubMed Count',NULL,18003,NULL,NULL,NULL,22,NULL,NULL,NULL),(46156,'NCBI Gene Summary',NULL,18004,NULL,'INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46157,'NCBI Gene PubMed Count',NULL,18004,NULL,NULL,NULL,8,NULL,NULL,NULL),(46158,'NCBI Gene Summary',NULL,18005,NULL,'The Integrator complex is a complex that associates with the C-terminal domain of RNA polymerase II large subunit. This complex is brought to U1 and U2 small nuclear RNA genes, where it is involved in the transcription and processing of their transcripts. The protein encoded by this gene represents a subunit of the Integrator complex. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(46159,'NCBI Gene PubMed Count',NULL,18005,NULL,NULL,NULL,8,NULL,NULL,NULL),(46160,'NCBI Gene Summary',NULL,18006,NULL,'This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3\'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(46161,'NCBI Gene PubMed Count',NULL,18006,NULL,NULL,NULL,18,NULL,NULL,NULL),(46162,'NCBI Gene Summary',NULL,18007,NULL,'This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(46163,'NCBI Gene PubMed Count',NULL,18007,NULL,NULL,NULL,12,NULL,NULL,NULL),(46164,'NCBI Gene Summary',NULL,18008,NULL,'This gene encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum and a member of the G-protein coupled receptor 1 family. This receptor binds estrogen and activates multiple downstream signaling pathways, leading to stimulation of adenylate cyclase and an increase in cyclic AMP levels, while also promoting intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. This receptor has been shown to play a role in diverse biological processes, including bone and nervous system development, metabolism, cognition, male fertility and uterine function. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(46165,'NCBI Gene PubMed Count',NULL,18008,NULL,NULL,NULL,226,NULL,NULL,NULL),(46166,'NCBI Gene PubMed Count',NULL,18009,NULL,NULL,NULL,10,NULL,NULL,NULL),(46167,'NCBI Gene Summary',NULL,18010,NULL,'GPHA2 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46168,'NCBI Gene PubMed Count',NULL,18010,NULL,NULL,NULL,11,NULL,NULL,NULL),(46169,'NCBI Gene Summary',NULL,18011,NULL,'This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions such as membrane trafficking and cell-to-cell communication. This protein may also be involved in osteoblast differentiation. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes Y and 22. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(46170,'NCBI Gene PubMed Count',NULL,18011,NULL,NULL,NULL,24,NULL,NULL,NULL),(46171,'NCBI Gene Summary',NULL,18012,NULL,'This gene encodes a member of the cAMP-dependent protein kinase inhibitor family. The encoded protein may play a role in the protein kinase A (PKA) pathway by interacting with the catalytic subunit of PKA, and overexpression of this gene may play a role in prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(46172,'NCBI Gene PubMed Count',NULL,18012,NULL,NULL,NULL,17,NULL,NULL,NULL),(46173,'NCBI Gene Summary',NULL,18013,NULL,'The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46174,'NCBI Gene PubMed Count',NULL,18013,NULL,NULL,NULL,208,NULL,NULL,NULL),(46175,'NCBI Gene Summary',NULL,18014,NULL,'The protein encoded by this gene is an omega class glutathione S-transferase (GST) with glutathione-dependent thiol transferase and dehydroascorbate reductase activities. GSTs are involved in the metabolism of xenobiotics and carcinogens. The encoded protein acts as a homodimer and is found in the cytoplasm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(46176,'NCBI Gene PubMed Count',NULL,18014,NULL,NULL,NULL,107,NULL,NULL,NULL),(46177,'NCBI Gene Summary',NULL,18015,NULL,'This gene encodes a member of the kappa class of the glutathione transferase superfamily of enzymes that function in cellular detoxification. The encoded protein is localized to the peroxisome and catalyzes the conjugation of glutathione to a wide range of hydrophobic substates facilitating the removal of these compounds from cells. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(46178,'NCBI Gene PubMed Count',NULL,18015,NULL,NULL,NULL,41,NULL,NULL,NULL),(46179,'NCBI Gene PubMed Count',NULL,18016,NULL,NULL,NULL,14,NULL,NULL,NULL),(46180,'NCBI Gene Summary',NULL,18017,NULL,'Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual\'s susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46181,'NCBI Gene PubMed Count',NULL,18017,NULL,NULL,NULL,2111,NULL,NULL,NULL),(46182,'NCBI Gene Summary',NULL,18018,NULL,'Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual\'s susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46183,'NCBI Gene PubMed Count',NULL,18018,NULL,NULL,NULL,58,NULL,NULL,NULL),(46184,'NCBI Gene Summary',NULL,18019,NULL,'This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(46185,'NCBI Gene PubMed Count',NULL,18019,NULL,NULL,NULL,97,NULL,NULL,NULL),(46186,'NCBI Gene Summary',NULL,18020,NULL,'This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46187,'NCBI Gene PubMed Count',NULL,18020,NULL,NULL,NULL,8,NULL,NULL,NULL),(46188,'NCBI Gene Summary',NULL,18021,NULL,'The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46189,'NCBI Gene PubMed Count',NULL,18021,NULL,NULL,NULL,99,NULL,NULL,NULL),(46190,'NCBI Gene PubMed Count',NULL,18022,NULL,NULL,NULL,17,NULL,NULL,NULL),(46191,'NCBI Gene Summary',NULL,18023,NULL,'This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46192,'NCBI Gene PubMed Count',NULL,18023,NULL,NULL,NULL,177,NULL,NULL,NULL),(46193,'NCBI Gene Summary',NULL,18024,NULL,'This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(46194,'NCBI Gene PubMed Count',NULL,18024,NULL,NULL,NULL,133,NULL,NULL,NULL),(46195,'NCBI Gene Summary',NULL,18025,NULL,'The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(46196,'NCBI Gene PubMed Count',NULL,18025,NULL,NULL,NULL,9,NULL,NULL,NULL),(46197,'NCBI Gene Summary',NULL,18026,NULL,'Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(46198,'NCBI Gene PubMed Count',NULL,18026,NULL,NULL,NULL,186,NULL,NULL,NULL),(46199,'NCBI Gene Summary',NULL,18027,NULL,'This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46200,'NCBI Gene PubMed Count',NULL,18027,NULL,NULL,NULL,14,NULL,NULL,NULL),(46201,'NCBI Gene Summary',NULL,18028,NULL,'This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ cell-less related protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46202,'NCBI Gene PubMed Count',NULL,18028,NULL,NULL,NULL,7,NULL,NULL,NULL),(46203,'NCBI Gene Summary',NULL,18029,NULL,'This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5\'-monophosphate into xanthine-5\'-monophosphate, which is then converted into guanosine-5\'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46204,'NCBI Gene PubMed Count',NULL,18029,NULL,NULL,NULL,65,NULL,NULL,NULL),(46205,'NCBI Gene PubMed Count',NULL,18030,NULL,NULL,NULL,19,NULL,NULL,NULL),(46206,'NCBI Gene Summary',NULL,18031,NULL,'The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(46207,'NCBI Gene PubMed Count',NULL,18031,NULL,NULL,NULL,10,NULL,NULL,NULL),(46208,'NCBI Gene Summary',NULL,18032,NULL,'The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(46209,'NCBI Gene PubMed Count',NULL,18032,NULL,NULL,NULL,86,NULL,NULL,NULL),(46210,'NCBI Gene Summary',NULL,18033,NULL,'The product of this gene is a member of the saposin-like protein (SAPLIP) family and is located in the cytotoxic granules of T cells, which are released upon antigen stimulation. This protein is present in cytotoxic granules of cytotoxic T lymphocytes and natural killer cells, and it has antimicrobial activity against M. tuberculosis and other organisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46211,'NCBI Gene PubMed Count',NULL,18033,NULL,NULL,NULL,67,NULL,NULL,NULL),(46212,'NCBI Gene Summary',NULL,18034,NULL,'The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(46213,'NCBI Gene PubMed Count',NULL,18034,NULL,NULL,NULL,46,NULL,NULL,NULL),(46214,'NCBI Gene Summary',NULL,18035,NULL,'Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(46215,'NCBI Gene PubMed Count',NULL,18035,NULL,NULL,NULL,40,NULL,NULL,NULL),(46216,'NCBI Gene Summary',NULL,18036,NULL,'The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46217,'NCBI Gene PubMed Count',NULL,18036,NULL,NULL,NULL,24,NULL,NULL,NULL),(46218,'NCBI Gene Summary',NULL,18037,NULL,'This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2\'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(46219,'NCBI Gene PubMed Count',NULL,18037,NULL,NULL,NULL,33,NULL,NULL,NULL),(46220,'NCBI Gene Summary',NULL,18038,NULL,'This locus encodes an inositol monophosphatase. The encoded protein catalyzes the dephosphoylration of inositol monophosphate and plays an important role in phosphatidylinositol signaling. This locus may be associated with susceptibility to bipolar disorder. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(46221,'NCBI Gene PubMed Count',NULL,18038,NULL,NULL,NULL,28,NULL,NULL,NULL),(46222,'NCBI Gene Summary',NULL,18039,NULL,'This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5\' region and multiple polyA signals in the 3\' region have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46223,'NCBI Gene PubMed Count',NULL,18039,NULL,NULL,NULL,132,NULL,NULL,NULL),(46224,'NCBI Gene PubMed Count',NULL,18040,NULL,NULL,NULL,21,NULL,NULL,NULL),(46225,'NCBI Gene Summary',NULL,18041,NULL,'The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The protein encoded by this gene is a member of the golgin family of proteins, whose members localize to the Golgi. This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, that are greather than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosome rearrangements that underlie genomic disease. The protein encoded by this gene is thought to be a functional golgin protein while the majority of the related copies of this gene are thought to be transcribed pseudogenes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46226,'NCBI Gene PubMed Count',NULL,18041,NULL,NULL,NULL,8,NULL,NULL,NULL),(46227,'NCBI Gene Summary',NULL,18042,NULL,'This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46228,'NCBI Gene PubMed Count',NULL,18042,NULL,NULL,NULL,7,NULL,NULL,NULL),(46229,'NCBI Gene PubMed Count',NULL,18043,NULL,NULL,NULL,2,NULL,NULL,NULL),(46230,'NCBI Gene PubMed Count',NULL,18044,NULL,NULL,NULL,2,NULL,NULL,NULL),(46231,'NCBI Gene PubMed Count',NULL,18045,NULL,NULL,NULL,6,NULL,NULL,NULL),(46232,'NCBI Gene PubMed Count',NULL,18046,NULL,NULL,NULL,3,NULL,NULL,NULL),(46233,'NCBI Gene PubMed Count',NULL,18047,NULL,NULL,NULL,6,NULL,NULL,NULL),(46234,'NCBI Gene PubMed Count',NULL,18048,NULL,NULL,NULL,0,NULL,NULL,NULL),(46235,'NCBI Gene PubMed Count',NULL,18049,NULL,NULL,NULL,3,NULL,NULL,NULL),(46236,'NCBI Gene Summary',NULL,18050,NULL,'The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(46237,'NCBI Gene PubMed Count',NULL,18050,NULL,NULL,NULL,28,NULL,NULL,NULL),(46238,'NCBI Gene Summary',NULL,18051,NULL,'The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(46239,'NCBI Gene PubMed Count',NULL,18051,NULL,NULL,NULL,12,NULL,NULL,NULL),(46240,'NCBI Gene Summary',NULL,18052,NULL,'INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46241,'NCBI Gene PubMed Count',NULL,18052,NULL,NULL,NULL,57,NULL,NULL,NULL),(46242,'NCBI Gene PubMed Count',NULL,18053,NULL,NULL,NULL,10,NULL,NULL,NULL),(46243,'NCBI Gene Summary',NULL,18054,NULL,'This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest that it may also function as a GC-rich promoter-specific trans-activating transcription factor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(46244,'NCBI Gene PubMed Count',NULL,18054,NULL,NULL,NULL,15,NULL,NULL,NULL),(46245,'NCBI Gene Summary',NULL,18055,NULL,'The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(46246,'NCBI Gene PubMed Count',NULL,18055,NULL,NULL,NULL,26,NULL,NULL,NULL),(46247,'NCBI Gene Summary',NULL,18056,NULL,'The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46248,'NCBI Gene PubMed Count',NULL,18056,NULL,NULL,NULL,90,NULL,NULL,NULL),(46249,'NCBI Gene Summary',NULL,18057,NULL,'This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(46250,'NCBI Gene PubMed Count',NULL,18057,NULL,NULL,NULL,104,NULL,NULL,NULL),(46251,'NCBI Gene Summary',NULL,18058,NULL,'INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46252,'NCBI Gene PubMed Count',NULL,18058,NULL,NULL,NULL,15,NULL,NULL,NULL),(46253,'NCBI Gene Summary',NULL,18059,NULL,'Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46254,'NCBI Gene PubMed Count',NULL,18059,NULL,NULL,NULL,33,NULL,NULL,NULL),(46255,'NCBI Gene PubMed Count',NULL,18060,NULL,NULL,NULL,23,NULL,NULL,NULL),(46256,'NCBI Gene Summary',NULL,18061,NULL,'This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(46257,'NCBI Gene PubMed Count',NULL,18061,NULL,NULL,NULL,589,NULL,NULL,NULL),(46258,'NCBI Gene PubMed Count',NULL,18062,NULL,NULL,NULL,3,NULL,NULL,NULL),(46259,'NCBI Gene PubMed Count',NULL,18063,NULL,NULL,NULL,7,NULL,NULL,NULL),(46260,'NCBI Gene Summary',NULL,18064,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3\' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(46261,'NCBI Gene PubMed Count',NULL,18064,NULL,NULL,NULL,24,NULL,NULL,NULL),(46262,'NCBI Gene Summary',NULL,18065,NULL,'This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(46263,'NCBI Gene PubMed Count',NULL,18065,NULL,NULL,NULL,18,NULL,NULL,NULL),(46264,'NCBI Gene Summary',NULL,18066,NULL,'This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(46265,'NCBI Gene PubMed Count',NULL,18066,NULL,NULL,NULL,41,NULL,NULL,NULL),(46266,'NCBI Gene Summary',NULL,18067,NULL,'This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(46267,'NCBI Gene PubMed Count',NULL,18067,NULL,NULL,NULL,17,NULL,NULL,NULL),(46268,'NCBI Gene PubMed Count',NULL,18068,NULL,NULL,NULL,15,NULL,NULL,NULL),(46269,'NCBI Gene Summary',NULL,18069,NULL,'The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(46270,'NCBI Gene PubMed Count',NULL,18069,NULL,NULL,NULL,25,NULL,NULL,NULL),(46271,'NCBI Gene PubMed Count',NULL,18070,NULL,NULL,NULL,14,NULL,NULL,NULL),(46272,'NCBI Gene PubMed Count',NULL,18071,NULL,NULL,NULL,9,NULL,NULL,NULL),(46273,'NCBI Gene Summary',NULL,18072,NULL,'The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA\'s. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46274,'NCBI Gene PubMed Count',NULL,18072,NULL,NULL,NULL,21,NULL,NULL,NULL),(46275,'NCBI Gene Summary',NULL,18073,NULL,'The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46276,'NCBI Gene PubMed Count',NULL,18073,NULL,NULL,NULL,79,NULL,NULL,NULL),(46277,'NCBI Gene Summary',NULL,18074,NULL,'The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(46278,'NCBI Gene PubMed Count',NULL,18074,NULL,NULL,NULL,120,NULL,NULL,NULL),(46279,'NCBI Gene Summary',NULL,18075,NULL,'The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion; larger molecules are transported by an active process. Most nuclear proteins contain short basic amino acid sequences known as nuclear localization signals (NLSs). KPNA5 protein belongs to the importin alpha protein family and is thought to be involved in NLS-dependent protein import into the nucleus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46280,'NCBI Gene PubMed Count',NULL,18075,NULL,NULL,NULL,56,NULL,NULL,NULL),(46281,'NCBI Gene Summary',NULL,18076,NULL,'Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46282,'NCBI Gene PubMed Count',NULL,18076,NULL,NULL,NULL,72,NULL,NULL,NULL),(46283,'NCBI Gene Summary',NULL,18077,NULL,'This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(46284,'NCBI Gene PubMed Count',NULL,18077,NULL,NULL,NULL,57,NULL,NULL,NULL),(46285,'NCBI Gene Summary',NULL,18078,NULL,'This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3\' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(46286,'NCBI Gene PubMed Count',NULL,18078,NULL,NULL,NULL,14,NULL,NULL,NULL),(46287,'NCBI Gene Summary',NULL,18079,NULL,'GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(46288,'NCBI Gene PubMed Count',NULL,18079,NULL,NULL,NULL,27,NULL,NULL,NULL),(46289,'NCBI Gene Summary',NULL,18080,NULL,'The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5\'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(46290,'NCBI Gene PubMed Count',NULL,18080,NULL,NULL,NULL,55,NULL,NULL,NULL),(46291,'NCBI Gene Summary',NULL,18081,NULL,'This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(46292,'NCBI Gene PubMed Count',NULL,18081,NULL,NULL,NULL,25,NULL,NULL,NULL),(46293,'NCBI Gene Summary',NULL,18082,NULL,'The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(46294,'NCBI Gene PubMed Count',NULL,18082,NULL,NULL,NULL,105,NULL,NULL,NULL),(46295,'NCBI Gene PubMed Count',NULL,18083,NULL,NULL,NULL,106,NULL,NULL,NULL),(46296,'NCBI Gene Summary',NULL,18084,NULL,'The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(46297,'NCBI Gene PubMed Count',NULL,18084,NULL,NULL,NULL,130,NULL,NULL,NULL),(46298,'NCBI Gene PubMed Count',NULL,18085,NULL,NULL,NULL,45,NULL,NULL,NULL),(46299,'NCBI Gene PubMed Count',NULL,18086,NULL,NULL,NULL,9,NULL,NULL,NULL),(46300,'NCBI Gene Summary',NULL,18087,NULL,'This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(46301,'NCBI Gene PubMed Count',NULL,18087,NULL,NULL,NULL,43,NULL,NULL,NULL),(46302,'NCBI Gene Summary',NULL,18088,NULL,'This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5\' exons. Some transcripts contain a differentially methylated region (DMR) at their 5\' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(46303,'NCBI Gene PubMed Count',NULL,18088,NULL,NULL,NULL,462,NULL,NULL,NULL),(46304,'NCBI Gene Summary',NULL,18089,NULL,'Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(46305,'NCBI Gene PubMed Count',NULL,18089,NULL,NULL,NULL,33,NULL,NULL,NULL),(46306,'NCBI Gene Summary',NULL,18090,NULL,'Sweet, bitter, and umami tastes are transmitted from taste receptors by a specific guanine nucleotide binding protein. The protein encoded by this gene is the alpha subunit of this heterotrimeric G protein, which is found not only in the oral epithelium but also in gut tissues. Variations in this gene have been linked to metabolic syndrome. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(46307,'NCBI Gene PubMed Count',NULL,18090,NULL,NULL,NULL,22,NULL,NULL,NULL),(46308,'NCBI Gene Summary',NULL,18091,NULL,'The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46309,'NCBI Gene PubMed Count',NULL,18091,NULL,NULL,NULL,13,NULL,NULL,NULL),(46310,'NCBI Gene Summary',NULL,18092,NULL,'The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46311,'NCBI Gene PubMed Count',NULL,18092,NULL,NULL,NULL,43,NULL,NULL,NULL),(46312,'NCBI Gene Summary',NULL,18093,NULL,'This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46313,'NCBI Gene PubMed Count',NULL,18093,NULL,NULL,NULL,14,NULL,NULL,NULL),(46314,'NCBI Gene Summary',NULL,18094,NULL,'Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46315,'NCBI Gene PubMed Count',NULL,18094,NULL,NULL,NULL,34,NULL,NULL,NULL),(46316,'NCBI Gene Summary',NULL,18095,NULL,'This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46317,'NCBI Gene PubMed Count',NULL,18095,NULL,NULL,NULL,35,NULL,NULL,NULL),(46318,'NCBI Gene PubMed Count',NULL,18096,NULL,NULL,NULL,26,NULL,NULL,NULL),(46319,'NCBI Gene Summary',NULL,18097,NULL,'This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin\'s lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(46320,'NCBI Gene PubMed Count',NULL,18097,NULL,NULL,NULL,177,NULL,NULL,NULL),(46321,'NCBI Gene Summary',NULL,18098,NULL,'This gene represents a pseudogene of the FERM and PDZ domain containing 2 gene (FRMPD2, GeneID 143162). Along with the functional gene, this gene is located in a region of segmental duplication on chromosome 10q. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(46322,'NCBI Gene PubMed Count',NULL,18098,NULL,NULL,NULL,2,NULL,NULL,NULL),(46323,'NCBI Gene Summary',NULL,18099,NULL,'This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(46324,'NCBI Gene PubMed Count',NULL,18099,NULL,NULL,NULL,13,NULL,NULL,NULL),(46325,'NCBI Gene Summary',NULL,18100,NULL,'The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(46326,'NCBI Gene PubMed Count',NULL,18100,NULL,NULL,NULL,22,NULL,NULL,NULL),(46327,'NCBI Gene Summary',NULL,18101,NULL,'The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46328,'NCBI Gene PubMed Count',NULL,18101,NULL,NULL,NULL,8,NULL,NULL,NULL),(46329,'NCBI Gene Summary',NULL,18102,NULL,'This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(46330,'NCBI Gene PubMed Count',NULL,18102,NULL,NULL,NULL,23,NULL,NULL,NULL),(46331,'NCBI Gene PubMed Count',NULL,18103,NULL,NULL,NULL,6,NULL,NULL,NULL),(46332,'NCBI Gene Summary',NULL,18104,NULL,'This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway.  This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46333,'NCBI Gene PubMed Count',NULL,18104,NULL,NULL,NULL,61,NULL,NULL,NULL),(46334,'NCBI Gene Summary',NULL,18105,NULL,'Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]',NULL,NULL,NULL,NULL,NULL),(46335,'NCBI Gene PubMed Count',NULL,18105,NULL,NULL,NULL,20,NULL,NULL,NULL),(46336,'NCBI Gene Summary',NULL,18106,NULL,'This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(46337,'NCBI Gene PubMed Count',NULL,18106,NULL,NULL,NULL,199,NULL,NULL,NULL),(46338,'NCBI Gene Summary',NULL,18107,NULL,'Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46339,'NCBI Gene PubMed Count',NULL,18107,NULL,NULL,NULL,36,NULL,NULL,NULL),(46340,'NCBI Gene Summary',NULL,18108,NULL,'This gene encodes a member of the galanin family of neuropeptides. The encoded protein binds galanin receptors 1, 2 and 3 with the highest affinity for galanin receptor 3 and has been implicated in biological processes involving the central nervous system including hypothalamic regulation of metabolism and reproduction. A peptide encoded by a splice variant of this gene, termed alarin, has vasoactive properties, displays antimicrobial activity against E. coli, and may serve as a marker for neuroblastic tumors.[provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(46341,'NCBI Gene PubMed Count',NULL,18108,NULL,NULL,NULL,13,NULL,NULL,NULL),(46342,'NCBI Gene Summary',NULL,18109,NULL,'This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46343,'NCBI Gene PubMed Count',NULL,18109,NULL,NULL,NULL,16,NULL,NULL,NULL),(46344,'NCBI Gene Summary',NULL,18110,NULL,'Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(46345,'NCBI Gene PubMed Count',NULL,18110,NULL,NULL,NULL,15,NULL,NULL,NULL),(46346,'NCBI Gene Summary',NULL,18111,NULL,'This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(46347,'NCBI Gene PubMed Count',NULL,18111,NULL,NULL,NULL,62,NULL,NULL,NULL),(46348,'NCBI Gene PubMed Count',NULL,18112,NULL,NULL,NULL,12,NULL,NULL,NULL),(46349,'NCBI Gene Summary',NULL,18113,NULL,'This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(46350,'NCBI Gene PubMed Count',NULL,18113,NULL,NULL,NULL,13,NULL,NULL,NULL),(46351,'NCBI Gene Summary',NULL,18114,NULL,'Guanylate-binding proteins, such as GBP6, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(46352,'NCBI Gene PubMed Count',NULL,18114,NULL,NULL,NULL,12,NULL,NULL,NULL),(46353,'NCBI Gene Summary',NULL,18115,NULL,'Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(46354,'NCBI Gene PubMed Count',NULL,18115,NULL,NULL,NULL,3,NULL,NULL,NULL),(46355,'NCBI Gene Summary',NULL,18116,NULL,'IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46356,'NCBI Gene PubMed Count',NULL,18116,NULL,NULL,NULL,109,NULL,NULL,NULL),(46357,'NCBI Gene PubMed Count',NULL,18117,NULL,NULL,NULL,1,NULL,NULL,NULL),(46358,'NCBI Gene Summary',NULL,18118,NULL,'This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP N-terminal domain and a thyroglobulin type-I domain. The encoded protein, mainly expressed in the liver, circulates in the plasma and binds both insulin-like growth factors (IGFs) I and II, prolonging their half-lives and altering their interaction with cell surface receptors. This protein is important in cell migration and metabolism. Low levels of this protein may be associated with impaired glucose tolerance, vascular disease and hypertension in human patients. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(46359,'NCBI Gene PubMed Count',NULL,18118,NULL,NULL,NULL,272,NULL,NULL,NULL),(46360,'NCBI Gene Summary',NULL,18119,NULL,'The protein encoded by this gene is one of six similar proteins that bind insulin-like growth factors I and II (IGF-I and IGF-II). The encoded protein can be secreted into the bloodstream, where it binds IGF-I and IGF-II with high affinity, or it can remain intracellular, interacting with many different ligands. High expression levels of this protein promote the growth of several types of tumors and may be predictive of the chances of recovery of the patient. Several transcript variants, one encoding a secreted isoform and the others encoding nonsecreted isoforms, have been found for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(46361,'NCBI Gene PubMed Count',NULL,18119,NULL,NULL,NULL,221,NULL,NULL,NULL),(46362,'NCBI Gene Summary',NULL,18120,NULL,'This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46363,'NCBI Gene PubMed Count',NULL,18120,NULL,NULL,NULL,650,NULL,NULL,NULL),(46364,'NCBI Gene Summary',NULL,18121,NULL,'This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46365,'NCBI Gene PubMed Count',NULL,18121,NULL,NULL,NULL,87,NULL,NULL,NULL),(46366,'NCBI Gene PubMed Count',NULL,18122,NULL,NULL,NULL,156,NULL,NULL,NULL),(46367,'NCBI Gene PubMed Count',NULL,18123,NULL,NULL,NULL,74,NULL,NULL,NULL),(46368,'NCBI Gene Summary',NULL,18124,NULL,'This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(46369,'NCBI Gene PubMed Count',NULL,18124,NULL,NULL,NULL,128,NULL,NULL,NULL),(46370,'NCBI Gene PubMed Count',NULL,18125,NULL,NULL,NULL,5,NULL,NULL,NULL),(46371,'NCBI Gene Summary',NULL,18126,NULL,'Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK\'s kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(46372,'NCBI Gene PubMed Count',NULL,18126,NULL,NULL,NULL,18,NULL,NULL,NULL),(46373,'NCBI Gene Summary',NULL,18127,NULL,'This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46374,'NCBI Gene PubMed Count',NULL,18127,NULL,NULL,NULL,183,NULL,NULL,NULL),(46375,'NCBI Gene PubMed Count',NULL,18128,NULL,NULL,NULL,9,NULL,NULL,NULL),(46376,'NCBI Gene Summary',NULL,18129,NULL,'This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren\'s syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(46377,'NCBI Gene PubMed Count',NULL,18129,NULL,NULL,NULL,39,NULL,NULL,NULL),(46378,'NCBI Gene Summary',NULL,18130,NULL,'The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(46379,'NCBI Gene PubMed Count',NULL,18130,NULL,NULL,NULL,101,NULL,NULL,NULL),(46380,'NCBI Gene Summary',NULL,18131,NULL,'This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46381,'NCBI Gene PubMed Count',NULL,18131,NULL,NULL,NULL,1085,NULL,NULL,NULL),(46382,'NCBI Gene Summary',NULL,18132,NULL,'The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46383,'NCBI Gene PubMed Count',NULL,18132,NULL,NULL,NULL,68,NULL,NULL,NULL),(46384,'NCBI Gene Summary',NULL,18133,NULL,'The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(46385,'NCBI Gene PubMed Count',NULL,18133,NULL,NULL,NULL,81,NULL,NULL,NULL),(46386,'NCBI Gene Summary',NULL,18134,NULL,'This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46387,'NCBI Gene PubMed Count',NULL,18134,NULL,NULL,NULL,45,NULL,NULL,NULL),(46388,'NCBI Gene Summary',NULL,18135,NULL,'The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46389,'NCBI Gene PubMed Count',NULL,18135,NULL,NULL,NULL,34,NULL,NULL,NULL),(46390,'NCBI Gene Summary',NULL,18136,NULL,'The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(46391,'NCBI Gene PubMed Count',NULL,18136,NULL,NULL,NULL,61,NULL,NULL,NULL),(46392,'NCBI Gene Summary',NULL,18138,NULL,'This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GHMP kinase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(46393,'NCBI Gene PubMed Count',NULL,18138,NULL,NULL,NULL,10,NULL,NULL,NULL),(46394,'NCBI Gene Summary',NULL,18140,NULL,'This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(46395,'NCBI Gene PubMed Count',NULL,18140,NULL,NULL,NULL,53,NULL,NULL,NULL),(46396,'NCBI Gene Summary',NULL,18141,NULL,'This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46397,'NCBI Gene PubMed Count',NULL,18141,NULL,NULL,NULL,42,NULL,NULL,NULL),(46398,'NCBI Gene PubMed Count',NULL,18142,NULL,NULL,NULL,8,NULL,NULL,NULL),(46399,'NCBI Gene Summary',NULL,18143,NULL,'The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(46400,'NCBI Gene PubMed Count',NULL,18143,NULL,NULL,NULL,162,NULL,NULL,NULL),(46401,'NCBI Gene Summary',NULL,18144,NULL,'This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions at the cell surface, becomes internalized in response to GLP-1 and GLP-1 analogs, and it plays an important role in the signaling cascades leading to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this gene are associated with diabetes. The protein is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(46402,'NCBI Gene PubMed Count',NULL,18144,NULL,NULL,NULL,201,NULL,NULL,NULL),(46403,'NCBI Gene Summary',NULL,18145,NULL,'This gene encodes a G protein-coupled receptor that is closely related to the glucagon receptor and binds to glucagon-like peptide-2 (GLP2). Signalling through GLP2 stimulates intestinal growth and increases villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(46404,'NCBI Gene PubMed Count',NULL,18145,NULL,NULL,NULL,28,NULL,NULL,NULL),(46405,'NCBI Gene Summary',NULL,18146,NULL,'Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5\' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(46406,'NCBI Gene PubMed Count',NULL,18146,NULL,NULL,NULL,54,NULL,NULL,NULL),(46407,'NCBI Gene Summary',NULL,18147,NULL,'Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(46408,'NCBI Gene PubMed Count',NULL,18147,NULL,NULL,NULL,42,NULL,NULL,NULL),(46409,'NCBI Gene PubMed Count',NULL,18148,NULL,NULL,NULL,6,NULL,NULL,NULL),(46410,'NCBI Gene PubMed Count',NULL,18149,NULL,NULL,NULL,4,NULL,NULL,NULL),(46411,'NCBI Gene Summary',NULL,18150,NULL,'The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46412,'NCBI Gene PubMed Count',NULL,18150,NULL,NULL,NULL,14,NULL,NULL,NULL),(46413,'NCBI Gene Summary',NULL,18151,NULL,'Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46414,'NCBI Gene PubMed Count',NULL,18151,NULL,NULL,NULL,93,NULL,NULL,NULL),(46415,'NCBI Gene Summary',NULL,18152,NULL,'The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46416,'NCBI Gene PubMed Count',NULL,18152,NULL,NULL,NULL,12,NULL,NULL,NULL),(46417,'NCBI Gene PubMed Count',NULL,18153,NULL,NULL,NULL,5,NULL,NULL,NULL),(46418,'NCBI Gene Summary',NULL,18154,NULL,'This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer\'s disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(46419,'NCBI Gene PubMed Count',NULL,18154,NULL,NULL,NULL,76,NULL,NULL,NULL),(46420,'NCBI Gene Summary',NULL,18155,NULL,'The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(46421,'NCBI Gene PubMed Count',NULL,18155,NULL,NULL,NULL,52,NULL,NULL,NULL),(46422,'NCBI Gene Summary',NULL,18156,NULL,'This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(46423,'NCBI Gene PubMed Count',NULL,18156,NULL,NULL,NULL,41,NULL,NULL,NULL),(46424,'NCBI Gene Summary',NULL,18157,NULL,'This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(46425,'NCBI Gene PubMed Count',NULL,18157,NULL,NULL,NULL,87,NULL,NULL,NULL),(46426,'NCBI Gene Summary',NULL,18158,NULL,'The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(46427,'NCBI Gene PubMed Count',NULL,18158,NULL,NULL,NULL,45,NULL,NULL,NULL),(46428,'NCBI Gene Summary',NULL,18159,NULL,'This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(46429,'NCBI Gene PubMed Count',NULL,18159,NULL,NULL,NULL,26,NULL,NULL,NULL),(46430,'NCBI Gene Summary',NULL,18160,NULL,'This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(46431,'NCBI Gene PubMed Count',NULL,18160,NULL,NULL,NULL,11,NULL,NULL,NULL),(46432,'NCBI Gene PubMed Count',NULL,18161,NULL,NULL,NULL,34,NULL,NULL,NULL),(46433,'NCBI Gene Summary',NULL,18162,NULL,'This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(46434,'NCBI Gene PubMed Count',NULL,18162,NULL,NULL,NULL,21,NULL,NULL,NULL),(46435,'NCBI Gene Summary',NULL,18163,NULL,'This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing beta-galactosyl residues, and it can act on both type 1 and type 2 (Galbeta 1-3/1-4GlcNAc-R) oligosaccharides with similar efficiencies, and on core 1 glycans. This enzyme has been implicated in tumor metastasis processes. This gene is different from the GAL3ST3 gene located on chromosome 11, which has also been referred to as GAL3ST2 and encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46436,'NCBI Gene PubMed Count',NULL,18163,NULL,NULL,NULL,15,NULL,NULL,NULL),(46437,'NCBI Gene Summary',NULL,18164,NULL,'The protein encoded by this gene localizes to the endoplasmic reticulum (ER) membrane. This protein translocates glucose-6-phosphate from the cytoplasm into the lumen of the ER for hydrolysis into glucose by another ER membrane protein. This gene is a member of the solute carrier 37 gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(46438,'NCBI Gene PubMed Count',NULL,18164,NULL,NULL,NULL,7,NULL,NULL,NULL),(46439,'NCBI Gene Summary',NULL,18165,NULL,'This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(46440,'NCBI Gene PubMed Count',NULL,18165,NULL,NULL,NULL,125,NULL,NULL,NULL),(46441,'NCBI Gene Summary',NULL,18166,NULL,'Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(46442,'NCBI Gene PubMed Count',NULL,18166,NULL,NULL,NULL,113,NULL,NULL,NULL),(46443,'NCBI Gene Summary',NULL,18167,NULL,'This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. Nothing is presently known about the function of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(46444,'NCBI Gene PubMed Count',NULL,18167,NULL,NULL,NULL,17,NULL,NULL,NULL),(46445,'NCBI Gene Summary',NULL,18168,NULL,'The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(46446,'NCBI Gene PubMed Count',NULL,18168,NULL,NULL,NULL,7,NULL,NULL,NULL),(46447,'NCBI Gene Summary',NULL,18169,NULL,'This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46448,'NCBI Gene PubMed Count',NULL,18169,NULL,NULL,NULL,23,NULL,NULL,NULL),(46449,'NCBI Gene Summary',NULL,18170,NULL,'This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46450,'NCBI Gene PubMed Count',NULL,18170,NULL,NULL,NULL,28,NULL,NULL,NULL),(46451,'NCBI Gene Summary',NULL,18171,NULL,'This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46452,'NCBI Gene PubMed Count',NULL,18171,NULL,NULL,NULL,61,NULL,NULL,NULL),(46453,'NCBI Gene PubMed Count',NULL,18172,NULL,NULL,NULL,9,NULL,NULL,NULL),(46454,'NCBI Gene PubMed Count',NULL,18173,NULL,NULL,NULL,11,NULL,NULL,NULL),(46455,'NCBI Gene PubMed Count',NULL,18174,NULL,NULL,NULL,23,NULL,NULL,NULL),(46456,'NCBI Gene PubMed Count',NULL,18175,NULL,NULL,NULL,1,NULL,NULL,NULL),(46457,'NCBI Gene Summary',NULL,18176,NULL,'Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The gamma subunit determines the specificity of which signaling pathways will be affected by this particular complex. The protein encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(46458,'NCBI Gene PubMed Count',NULL,18176,NULL,NULL,NULL,20,NULL,NULL,NULL),(46459,'NCBI Gene PubMed Count',NULL,18177,NULL,NULL,NULL,16,NULL,NULL,NULL),(46460,'NCBI Gene Summary',NULL,18178,NULL,'G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987 [PubMed 3113327]; summary by Ahmad et al., 1995) [PubMed 7606925].[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(46461,'NCBI Gene PubMed Count',NULL,18178,NULL,NULL,NULL,26,NULL,NULL,NULL),(46462,'NCBI Gene Summary',NULL,18179,NULL,'Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46463,'NCBI Gene PubMed Count',NULL,18179,NULL,NULL,NULL,68,NULL,NULL,NULL),(46464,'NCBI Gene Summary',NULL,18180,NULL,'This gene belongs to the guanine-binding protein (GBP) family, which includes interferon-induced proteins that can bind to guanine nucleotides (GMP, GDP and GTP). The encoded protein is a GTPase which hydrolyzes GTP, predominantly to GDP. The protein may play a role as a marker of squamous cell carcinomas. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(46465,'NCBI Gene PubMed Count',NULL,18180,NULL,NULL,NULL,23,NULL,NULL,NULL),(46466,'NCBI Gene Summary',NULL,18181,NULL,'Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(46467,'NCBI Gene PubMed Count',NULL,18181,NULL,NULL,NULL,8,NULL,NULL,NULL),(46468,'NCBI Gene Summary',NULL,18182,NULL,'This gene belongs to the TRAFAC class dynamin-like GTPase superfamily. The encoded protein acts as an activator of NLRP3 inflammasome assembly and has a role in innate immunity and inflammation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(46469,'NCBI Gene PubMed Count',NULL,18182,NULL,NULL,NULL,18,NULL,NULL,NULL),(46470,'NCBI Gene Summary',NULL,18183,NULL,'This gene encodes a member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiation signal. Human patients with type 1 and advanced type 2 diabetes exhibit reduced levels of the encoded hormone in blood and pancreas. This protein also exhibits a bactericidal, antimicrobial activity. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(46471,'NCBI Gene PubMed Count',NULL,18183,NULL,NULL,NULL,288,NULL,NULL,NULL),(46472,'NCBI Gene Summary',NULL,18184,NULL,'Alpha-1,3-galactosyltransferase (GGTA1) is an enzyme present in most mammals except man, apes, and Old World monkeys. This gene is a remnant of the GGTA1 gene and is a transcribed pseudogene. Aberrant expression of the GGTA1 protein in man can lead to autoimmune diseases and sometimes germ cell tumors. Two transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(46473,'NCBI Gene PubMed Count',NULL,18184,NULL,NULL,NULL,10,NULL,NULL,NULL),(46474,'NCBI Gene Summary',NULL,18185,NULL,'This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative splicing results in multiple transcript variants. There are several related family members and related pseudogene for this gene situated in the same region of chromosome 22. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(46475,'NCBI Gene PubMed Count',NULL,18185,NULL,NULL,NULL,9,NULL,NULL,NULL),(46476,'NCBI Gene Summary',NULL,18186,NULL,'This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(46477,'NCBI Gene PubMed Count',NULL,18186,NULL,NULL,NULL,50,NULL,NULL,NULL),(46478,'NCBI Gene Summary',NULL,18187,NULL,'Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46479,'NCBI Gene PubMed Count',NULL,18187,NULL,NULL,NULL,20,NULL,NULL,NULL),(46480,'NCBI Gene Summary',NULL,18188,NULL,'Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(46481,'NCBI Gene PubMed Count',NULL,18188,NULL,NULL,NULL,19,NULL,NULL,NULL),(46482,'NCBI Gene Summary',NULL,18189,NULL,'Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the gamma subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. This gene is a candidate gene for periventricular heterotopia. Several alternatively spliced transcript variants of this gene have been described, but only some of their full length natures have been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46483,'NCBI Gene PubMed Count',NULL,18189,NULL,NULL,NULL,16,NULL,NULL,NULL),(46484,'NCBI Gene Summary',NULL,18190,NULL,'Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(46485,'NCBI Gene PubMed Count',NULL,18190,NULL,NULL,NULL,615,NULL,NULL,NULL),(46486,'NCBI Gene Summary',NULL,18191,NULL,'Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(46487,'NCBI Gene PubMed Count',NULL,18191,NULL,NULL,NULL,306,NULL,NULL,NULL),(46488,'NCBI Gene Summary',NULL,18192,NULL,'This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is empty, whereupon it binds to the growth hormone secretagogue receptor in the hypothalamus which results in the secretion of growth hormone (somatotropin). Ghrelin is thought to regulate multiple activities, including hunger, reward perception via the mesolimbic pathway, gastric acid secretion, gastrointestinal motility, and pancreatic glucose-stimulated insulin secretion. It was initially proposed that obestatin plays an opposing role to ghrelin by promoting satiety and thus decreasing food intake, but this action is still debated. Recent reports suggest multiple metabolic roles for obestatin, including regulating adipocyte function and glucose metabolism. Alternative splicing results in multiple transcript variants. In addition, antisense transcripts for this gene have been identified and may potentially regulate ghrelin-obestatin preproprotein expression. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(46489,'NCBI Gene PubMed Count',NULL,18192,NULL,NULL,NULL,809,NULL,NULL,NULL),(46490,'NCBI Gene PubMed Count',NULL,18193,NULL,NULL,NULL,11,NULL,NULL,NULL),(46491,'NCBI Gene PubMed Count',NULL,18194,NULL,NULL,NULL,2,NULL,NULL,NULL),(46492,'NCBI Gene PubMed Count',NULL,18195,NULL,NULL,NULL,29,NULL,NULL,NULL),(46493,'NCBI Gene PubMed Count',NULL,18196,NULL,NULL,NULL,19,NULL,NULL,NULL),(46494,'NCBI Gene Summary',NULL,18197,NULL,'This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(46495,'NCBI Gene PubMed Count',NULL,18197,NULL,NULL,NULL,114,NULL,NULL,NULL),(46496,'NCBI Gene Summary',NULL,18198,NULL,'The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(46497,'NCBI Gene PubMed Count',NULL,18198,NULL,NULL,NULL,25,NULL,NULL,NULL),(46498,'NCBI Gene Summary',NULL,18199,NULL,'The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(46499,'NCBI Gene PubMed Count',NULL,18199,NULL,NULL,NULL,20,NULL,NULL,NULL),(46500,'NCBI Gene PubMed Count',NULL,18200,NULL,NULL,NULL,5,NULL,NULL,NULL),(46501,'NCBI Gene Summary',NULL,18201,NULL,'This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(46502,'NCBI Gene PubMed Count',NULL,18201,NULL,NULL,NULL,22,NULL,NULL,NULL),(46503,'NCBI Gene Summary',NULL,18202,NULL,'This gene encodes a member of the cytosolic phospholipase A2 group IV family. Members of this family are involved in regulation of membrane tubule-mediated transport. The enzyme encoded by this member of the family plays a role in trafficking through the clathrin-independent endocytic pathway. The enzyme regulates the recycling process via formation of tubules that transport internalized clathrin-independent cargo proteins back to the cell surface. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(46504,'NCBI Gene PubMed Count',NULL,18202,NULL,NULL,NULL,11,NULL,NULL,NULL),(46505,'NCBI Gene Summary',NULL,18203,NULL,'This gene encodes a secreted member of the phospholipase A2 (PLA2) class of enzymes, which is produced by the pancreatic acinar cells. The encoded calcium-dependent enzyme catalyzes the hydrolysis of the sn-2 position of membrane glycerophospholipids to release arachidonic acid (AA) and lysophospholipids. AA is subsequently converted by downstream metabolic enzymes to several bioactive lipophilic compounds (eicosanoids), including prostaglandins (PGs) and leukotrienes (LTs). The enzyme may be involved in several physiological processes including cell contraction, cell proliferation and pathological response. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(46506,'NCBI Gene PubMed Count',NULL,18203,NULL,NULL,NULL,60,NULL,NULL,NULL),(46507,'NCBI Gene Summary',NULL,18204,NULL,'This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA processing. This protein can interact with the cytoplasmic domain of the ErbB3 receptor and may contribute to transducing growth regulatory signals. This protein is also a transcriptional co-repressor of androgen receptor-regulated genes and other cell cycle regulatory genes through its interactions with histone deacetylases. This protein has been implicated in growth inhibition and the induction of differentiation of human cancer cells. Six pseudogenes, located on chromosomes 3, 6, 9, 18, 20 and X, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46508,'NCBI Gene PubMed Count',NULL,18204,NULL,NULL,NULL,69,NULL,NULL,NULL),(46509,'NCBI Gene Summary',NULL,18205,NULL,'Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(46510,'NCBI Gene PubMed Count',NULL,18205,NULL,NULL,NULL,57,NULL,NULL,NULL),(46511,'NCBI Gene Summary',NULL,18206,NULL,'This gene encodes a member of the phospholipase A2 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This calcium-dependent enzyme hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids. In one example, this enzyme catalyzes the release of arachidonic acid from cell membrane phospholipids, thus playing a role in the production of various inflammatory lipid mediators, such as prostaglandins. The encoded protein may promote the survival of breast cancer cells through its role in lipid metabolism. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(46512,'NCBI Gene PubMed Count',NULL,18206,NULL,NULL,NULL,47,NULL,NULL,NULL),(46513,'NCBI Gene Summary',NULL,18207,NULL,'Messenger RNA stability and translation initiation are extensively under the control of poly(A)-binding proteins (PABP). See PABPC1 (MIM 604679) for background information.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(46514,'NCBI Gene PubMed Count',NULL,18207,NULL,NULL,NULL,12,NULL,NULL,NULL),(46515,'NCBI Gene Summary',NULL,18208,NULL,'This gene encodes a protein that binds to the polyA tail found at the 3\' end of most eukaryotic mRNAs. It is thought to play a role in the regulation of mRNA metabolic processes in the cytoplasm. This gene is located in a gene-poor region within the X-specific 13d-sY43 subinterval of the chromosome Xq21.3/Yp11.2 homology block. It is located close to translocation breakpoints associated with premature ovarian failure, and is therefore a potential candidate gene for this disorder. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(46516,'NCBI Gene PubMed Count',NULL,18208,NULL,NULL,NULL,8,NULL,NULL,NULL),(46517,'NCBI Gene Summary',NULL,18209,NULL,'This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded 95 aa preproprotein is synthesized in the pancreatic islets of Langerhans and proteolytically processed to generate two peptide products. These products include the active pancreatic hormone of 36 aa and an icosapeptide of unknown function. This hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(46518,'NCBI Gene PubMed Count',NULL,18209,NULL,NULL,NULL,43,NULL,NULL,NULL),(46519,'NCBI Gene Summary',NULL,18210,NULL,'This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46520,'NCBI Gene PubMed Count',NULL,18210,NULL,NULL,NULL,37,NULL,NULL,NULL),(46521,'NCBI Gene Summary',NULL,18211,NULL,'Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46522,'NCBI Gene PubMed Count',NULL,18211,NULL,NULL,NULL,5,NULL,NULL,NULL),(46523,'NCBI Gene Summary',NULL,18212,NULL,'The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46524,'NCBI Gene PubMed Count',NULL,18212,NULL,NULL,NULL,20,NULL,NULL,NULL),(46525,'NCBI Gene Summary',NULL,18213,NULL,'PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46526,'NCBI Gene PubMed Count',NULL,18213,NULL,NULL,NULL,121,NULL,NULL,NULL),(46527,'NCBI Gene Summary',NULL,18214,NULL,'This gene represents readthrough transcription between the genes BUB1B (mitotic checkpoint serine/threonine-protein kinase BUB1 beta) and PAK6 (serine/threonine-protein kinase PAK 6). The protein encoded by the readthrough transcripts is the same as the product of the downstream gene (PAK6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(46528,'NCBI Gene PubMed Count',NULL,18214,NULL,NULL,NULL,10,NULL,NULL,NULL),(46529,'NCBI Gene PubMed Count',NULL,18215,NULL,NULL,NULL,2,NULL,NULL,NULL),(46530,'NCBI Gene PubMed Count',NULL,18216,NULL,NULL,NULL,3,NULL,NULL,NULL),(46531,'NCBI Gene PubMed Count',NULL,18217,NULL,NULL,NULL,12,NULL,NULL,NULL),(46532,'NCBI Gene PubMed Count',NULL,18218,NULL,NULL,NULL,2,NULL,NULL,NULL),(46533,'NCBI Gene Summary',NULL,18219,NULL,'The protein encoded by this gene belongs to the innexin family. Innexin family members are known to be the structural components of gap junctions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46534,'NCBI Gene PubMed Count',NULL,18219,NULL,NULL,NULL,16,NULL,NULL,NULL),(46535,'NCBI Gene PubMed Count',NULL,18220,NULL,NULL,NULL,13,NULL,NULL,NULL),(46536,'NCBI Gene PubMed Count',NULL,18221,NULL,NULL,NULL,13,NULL,NULL,NULL),(46537,'NCBI Gene Summary',NULL,18222,NULL,'This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46538,'NCBI Gene PubMed Count',NULL,18222,NULL,NULL,NULL,12,NULL,NULL,NULL),(46539,'NCBI Gene PubMed Count',NULL,18223,NULL,NULL,NULL,8,NULL,NULL,NULL),(46540,'NCBI Gene Summary',NULL,18224,NULL,'This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(46541,'NCBI Gene PubMed Count',NULL,18224,NULL,NULL,NULL,13,NULL,NULL,NULL),(46542,'NCBI Gene PubMed Count',NULL,18225,NULL,NULL,NULL,14,NULL,NULL,NULL),(46543,'NCBI Gene Summary',NULL,18226,NULL,'This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46544,'NCBI Gene PubMed Count',NULL,18226,NULL,NULL,NULL,59,NULL,NULL,NULL),(46545,'NCBI Gene Summary',NULL,18227,NULL,'Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004]',NULL,NULL,NULL,NULL,NULL),(46546,'NCBI Gene PubMed Count',NULL,18227,NULL,NULL,NULL,16,NULL,NULL,NULL),(46547,'NCBI Gene Summary',NULL,18228,NULL,'This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(46548,'NCBI Gene PubMed Count',NULL,18228,NULL,NULL,NULL,186,NULL,NULL,NULL),(46549,'NCBI Gene Summary',NULL,18229,NULL,'This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(46550,'NCBI Gene PubMed Count',NULL,18229,NULL,NULL,NULL,27,NULL,NULL,NULL),(46551,'NCBI Gene Summary',NULL,18230,NULL,'NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(46552,'NCBI Gene PubMed Count',NULL,18230,NULL,NULL,NULL,28,NULL,NULL,NULL),(46553,'NCBI Gene Summary',NULL,18231,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(46554,'NCBI Gene PubMed Count',NULL,18231,NULL,NULL,NULL,6,NULL,NULL,NULL),(46555,'NCBI Gene Summary',NULL,18232,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46556,'NCBI Gene PubMed Count',NULL,18232,NULL,NULL,NULL,3,NULL,NULL,NULL),(46557,'NCBI Gene Summary',NULL,18233,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This family member represents a polymorphic pseudogene, whereby some individuals have a functional allele that encodes a full-length protein, while others have a non-functional allele due to the presence of an early stop codon and a 3\' end deletion. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(46558,'NCBI Gene PubMed Count',NULL,18233,NULL,NULL,NULL,5,NULL,NULL,NULL),(46559,'NCBI Gene Summary',NULL,18234,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46560,'NCBI Gene PubMed Count',NULL,18234,NULL,NULL,NULL,4,NULL,NULL,NULL),(46561,'NCBI Gene Summary',NULL,18235,NULL,'This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(46562,'NCBI Gene PubMed Count',NULL,18235,NULL,NULL,NULL,28,NULL,NULL,NULL),(46563,'NCBI Gene Summary',NULL,18236,NULL,'This intronless gene encodes a protein that localizes to the mitochondrial inner membrane and likely functions as a transporter of small molecules such as ornithine. This gene is located between the protocadherin beta and gamma gene clusters on chromosome 5. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(46564,'NCBI Gene PubMed Count',NULL,18236,NULL,NULL,NULL,13,NULL,NULL,NULL),(46565,'NCBI Gene PubMed Count',NULL,18237,NULL,NULL,NULL,5,NULL,NULL,NULL),(46566,'NCBI Gene Summary',NULL,18238,NULL,'The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(46567,'NCBI Gene PubMed Count',NULL,18238,NULL,NULL,NULL,35,NULL,NULL,NULL),(46568,'NCBI Gene Summary',NULL,18239,NULL,'This gene encodes a protein that belongs to the secreted phospholipase A2 family, whose members include the bee venom enzyme. The encoded enzyme functions in lipid metabolism and catalyzes the calcium-dependent hydrolysis of the sn-2 acyl bond of phospholipids to release arachidonic acid and lysophospholipids. This enzyme acts as a negative regulator of ciliogenesis, and may play a role in cancer development by stimulating tumor cell growth and angiogenesis. This gene is associated with oxidative stress, and polymorphisms in this gene are linked to risk for Alzheimer\'s disease. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(46569,'NCBI Gene PubMed Count',NULL,18239,NULL,NULL,NULL,32,NULL,NULL,NULL),(46570,'NCBI Gene Summary',NULL,18240,NULL,'This gene encodes a WD repeat-containing protein involved in regulation of association of proteasome components. During HIV infection, the encoded protein is thought to promote provirus transcription through recruitment of the 19S regulatory complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(46571,'NCBI Gene PubMed Count',NULL,18240,NULL,NULL,NULL,18,NULL,NULL,NULL),(46572,'NCBI Gene Summary',NULL,18241,NULL,'This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(46573,'NCBI Gene PubMed Count',NULL,18241,NULL,NULL,NULL,14,NULL,NULL,NULL),(46574,'NCBI Gene PubMed Count',NULL,18242,NULL,NULL,NULL,7,NULL,NULL,NULL),(46575,'NCBI Gene PubMed Count',NULL,18243,NULL,NULL,NULL,48,NULL,NULL,NULL),(46576,'NCBI Gene Summary',NULL,18244,NULL,'This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(46577,'NCBI Gene PubMed Count',NULL,18244,NULL,NULL,NULL,42,NULL,NULL,NULL),(46578,'NCBI Gene Summary',NULL,18245,NULL,'This gene is a member of family of proteins that are expressed in a variety of tumors and in some fetal and reproductive tissues. The encoded protein may protect cells from programmed cell death. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(46579,'NCBI Gene PubMed Count',NULL,18245,NULL,NULL,NULL,10,NULL,NULL,NULL),(46580,'NCBI Gene Summary',NULL,18246,NULL,'This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(46581,'NCBI Gene PubMed Count',NULL,18246,NULL,NULL,NULL,380,NULL,NULL,NULL),(46582,'NCBI Gene Summary',NULL,18247,NULL,'The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46583,'NCBI Gene PubMed Count',NULL,18247,NULL,NULL,NULL,117,NULL,NULL,NULL),(46584,'NCBI Gene Summary',NULL,18248,NULL,'The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(46585,'NCBI Gene PubMed Count',NULL,18248,NULL,NULL,NULL,60,NULL,NULL,NULL),(46586,'NCBI Gene PubMed Count',NULL,18249,NULL,NULL,NULL,19,NULL,NULL,NULL),(46587,'NCBI Gene PubMed Count',NULL,18250,NULL,NULL,NULL,4,NULL,NULL,NULL),(46588,'NCBI Gene PubMed Count',NULL,18251,NULL,NULL,NULL,8,NULL,NULL,NULL),(46589,'NCBI Gene Summary',NULL,18252,NULL,'This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3\' to 5\' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(46590,'NCBI Gene PubMed Count',NULL,18252,NULL,NULL,NULL,22,NULL,NULL,NULL),(46591,'NCBI Gene PubMed Count',NULL,18253,NULL,NULL,NULL,15,NULL,NULL,NULL),(46592,'NCBI Gene Summary',NULL,18254,NULL,'The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(46593,'NCBI Gene PubMed Count',NULL,18254,NULL,NULL,NULL,41,NULL,NULL,NULL),(46594,'NCBI Gene Summary',NULL,18255,NULL,'This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(46595,'NCBI Gene PubMed Count',NULL,18255,NULL,NULL,NULL,53,NULL,NULL,NULL),(46596,'NCBI Gene Summary',NULL,18256,NULL,'The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46597,'NCBI Gene PubMed Count',NULL,18256,NULL,NULL,NULL,82,NULL,NULL,NULL),(46598,'NCBI Gene PubMed Count',NULL,18257,NULL,NULL,NULL,3,NULL,NULL,NULL),(46599,'NCBI Gene PubMed Count',NULL,18258,NULL,NULL,NULL,19,NULL,NULL,NULL),(46600,'NCBI Gene Summary',NULL,18259,NULL,'This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46601,'NCBI Gene PubMed Count',NULL,18259,NULL,NULL,NULL,9,NULL,NULL,NULL),(46602,'NCBI Gene Summary',NULL,18260,NULL,'This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(46603,'NCBI Gene PubMed Count',NULL,18260,NULL,NULL,NULL,17,NULL,NULL,NULL),(46604,'NCBI Gene PubMed Count',NULL,18261,NULL,NULL,NULL,43,NULL,NULL,NULL),(46605,'NCBI Gene Summary',NULL,18262,NULL,'This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(46606,'NCBI Gene PubMed Count',NULL,18262,NULL,NULL,NULL,35,NULL,NULL,NULL),(46607,'NCBI Gene Summary',NULL,18263,NULL,'This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46608,'NCBI Gene PubMed Count',NULL,18263,NULL,NULL,NULL,182,NULL,NULL,NULL),(46609,'NCBI Gene Summary',NULL,18264,NULL,'Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and retinal G protein coupled receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46610,'NCBI Gene PubMed Count',NULL,18264,NULL,NULL,NULL,9,NULL,NULL,NULL),(46611,'NCBI Gene Summary',NULL,18265,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46612,'NCBI Gene PubMed Count',NULL,18265,NULL,NULL,NULL,9,NULL,NULL,NULL),(46613,'NCBI Gene Summary',NULL,18266,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46614,'NCBI Gene PubMed Count',NULL,18266,NULL,NULL,NULL,8,NULL,NULL,NULL),(46615,'NCBI Gene Summary',NULL,18267,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46616,'NCBI Gene PubMed Count',NULL,18267,NULL,NULL,NULL,5,NULL,NULL,NULL),(46617,'NCBI Gene Summary',NULL,18268,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46618,'NCBI Gene PubMed Count',NULL,18268,NULL,NULL,NULL,7,NULL,NULL,NULL),(46619,'NCBI Gene Summary',NULL,18269,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46620,'NCBI Gene PubMed Count',NULL,18269,NULL,NULL,NULL,8,NULL,NULL,NULL),(46621,'NCBI Gene Summary',NULL,18270,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46622,'NCBI Gene PubMed Count',NULL,18270,NULL,NULL,NULL,2,NULL,NULL,NULL),(46623,'NCBI Gene Summary',NULL,18271,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46624,'NCBI Gene PubMed Count',NULL,18271,NULL,NULL,NULL,3,NULL,NULL,NULL),(46625,'NCBI Gene Summary',NULL,18272,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46626,'NCBI Gene PubMed Count',NULL,18272,NULL,NULL,NULL,11,NULL,NULL,NULL),(46627,'NCBI Gene Summary',NULL,18273,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(46628,'NCBI Gene PubMed Count',NULL,18273,NULL,NULL,NULL,7,NULL,NULL,NULL),(46629,'NCBI Gene Summary',NULL,18274,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46630,'NCBI Gene PubMed Count',NULL,18274,NULL,NULL,NULL,4,NULL,NULL,NULL),(46631,'NCBI Gene Summary',NULL,18275,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46632,'NCBI Gene PubMed Count',NULL,18275,NULL,NULL,NULL,6,NULL,NULL,NULL),(46633,'NCBI Gene Summary',NULL,18276,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46634,'NCBI Gene PubMed Count',NULL,18276,NULL,NULL,NULL,2,NULL,NULL,NULL),(46635,'NCBI Gene Summary',NULL,18277,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46636,'NCBI Gene PubMed Count',NULL,18277,NULL,NULL,NULL,3,NULL,NULL,NULL),(46637,'NCBI Gene PubMed Count',NULL,18278,NULL,NULL,NULL,25,NULL,NULL,NULL),(46638,'NCBI Gene PubMed Count',NULL,18279,NULL,NULL,NULL,35,NULL,NULL,NULL),(46639,'NCBI Gene Summary',NULL,18280,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46640,'NCBI Gene PubMed Count',NULL,18280,NULL,NULL,NULL,5,NULL,NULL,NULL),(46641,'NCBI Gene Summary',NULL,18281,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46642,'NCBI Gene PubMed Count',NULL,18281,NULL,NULL,NULL,4,NULL,NULL,NULL),(46643,'NCBI Gene Summary',NULL,18282,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(46644,'NCBI Gene PubMed Count',NULL,18282,NULL,NULL,NULL,6,NULL,NULL,NULL),(46645,'NCBI Gene Summary',NULL,18283,NULL,'The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(46646,'NCBI Gene PubMed Count',NULL,18283,NULL,NULL,NULL,38,NULL,NULL,NULL),(46647,'NCBI Gene Summary',NULL,18284,NULL,'This gene encodes an oxidative stress response protein that regulates cell death. Expression of the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator of both inflammatory and anti-inflammatory molecules. The loss of this protein correlates with uncontrolled cell growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(46648,'NCBI Gene PubMed Count',NULL,18284,NULL,NULL,NULL,22,NULL,NULL,NULL),(46649,'NCBI Gene Summary',NULL,18285,NULL,'This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46650,'NCBI Gene PubMed Count',NULL,18285,NULL,NULL,NULL,28,NULL,NULL,NULL),(46651,'NCBI Gene Summary',NULL,18286,NULL,'This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(46652,'NCBI Gene PubMed Count',NULL,18286,NULL,NULL,NULL,28,NULL,NULL,NULL),(46653,'NCBI Gene PubMed Count',NULL,18287,NULL,NULL,NULL,19,NULL,NULL,NULL),(46654,'NCBI Gene Summary',NULL,18288,NULL,'This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46655,'NCBI Gene PubMed Count',NULL,18288,NULL,NULL,NULL,23,NULL,NULL,NULL),(46656,'NCBI Gene Summary',NULL,18289,NULL,'This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46657,'NCBI Gene PubMed Count',NULL,18289,NULL,NULL,NULL,106,NULL,NULL,NULL),(46658,'NCBI Gene Summary',NULL,18290,NULL,'This gene encodes a seven-transmembrane G-protein-coupled receptor for platelet-activating factor (PAF) that localizes to lipid rafts and/or caveolae in the cell membrane. PAF (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) is a phospholipid that plays a significant role in oncogenic transformation, tumor growth, angiogenesis, metastasis, and pro-inflammatory processes. Binding of PAF to the PAF-receptor (PAFR) stimulates numerous signal transduction pathways including phospholipase C, D, A2, mitogen-activated protein kinases (MAPKs), and the phosphatidylinositol-calcium second messenger system. Following PAFR activation, cells become rapidly desensitized and this refractory state is dependent on PAFR phosphorylation, internalization, and down-regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(46659,'NCBI Gene PubMed Count',NULL,18290,NULL,NULL,NULL,89,NULL,NULL,NULL),(46660,'NCBI Gene Summary',NULL,18291,NULL,'This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expressed in the inner ear and forms a multimeric complex called the otoconia, together with cerebellin-1 and otoconin-90, as part of the otoconial membrane. It contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Naturally occurring mutations in this gene are associated with abnormal otoconia formation and balance deficits resulting from vestibular dysfunction. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(46661,'NCBI Gene PubMed Count',NULL,18291,NULL,NULL,NULL,12,NULL,NULL,NULL),(46662,'NCBI Gene PubMed Count',NULL,18292,NULL,NULL,NULL,3,NULL,NULL,NULL),(46663,'NCBI Gene Summary',NULL,18293,NULL,'This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(46664,'NCBI Gene PubMed Count',NULL,18293,NULL,NULL,NULL,11,NULL,NULL,NULL),(46665,'NCBI Gene Summary',NULL,18294,NULL,'Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46666,'NCBI Gene PubMed Count',NULL,18294,NULL,NULL,NULL,7,NULL,NULL,NULL),(46667,'NCBI Gene Summary',NULL,18295,NULL,'The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(46668,'NCBI Gene PubMed Count',NULL,18295,NULL,NULL,NULL,34,NULL,NULL,NULL),(46669,'NCBI Gene Summary',NULL,18296,NULL,'This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46670,'NCBI Gene PubMed Count',NULL,18296,NULL,NULL,NULL,7,NULL,NULL,NULL),(46671,'NCBI Gene Summary',NULL,18297,NULL,'Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA2 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]',NULL,NULL,NULL,NULL,NULL),(46672,'NCBI Gene PubMed Count',NULL,18297,NULL,NULL,NULL,4,NULL,NULL,NULL),(46673,'NCBI Gene Summary',NULL,18298,NULL,'This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]',NULL,NULL,NULL,NULL,NULL),(46674,'NCBI Gene PubMed Count',NULL,18298,NULL,NULL,NULL,9,NULL,NULL,NULL),(46675,'NCBI Gene Summary',NULL,18299,NULL,'The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(46676,'NCBI Gene PubMed Count',NULL,18299,NULL,NULL,NULL,10,NULL,NULL,NULL),(46677,'NCBI Gene PubMed Count',NULL,18300,NULL,NULL,NULL,35,NULL,NULL,NULL),(46678,'NCBI Gene PubMed Count',NULL,18301,NULL,NULL,NULL,3,NULL,NULL,NULL),(46679,'NCBI Gene Summary',NULL,18302,NULL,'This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(46680,'NCBI Gene PubMed Count',NULL,18302,NULL,NULL,NULL,17,NULL,NULL,NULL),(46681,'NCBI Gene Summary',NULL,18303,NULL,'Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]',NULL,NULL,NULL,NULL,NULL),(46682,'NCBI Gene PubMed Count',NULL,18303,NULL,NULL,NULL,12,NULL,NULL,NULL),(46683,'NCBI Gene Summary',NULL,18304,NULL,'The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein binds the hypothalamic neuropeptides orexin A and orexin B. A related gene (HCRTR1) encodes a G-protein coupled receptor that selectively binds orexin A. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(46684,'NCBI Gene PubMed Count',NULL,18304,NULL,NULL,NULL,70,NULL,NULL,NULL),(46685,'NCBI Gene Summary',NULL,18305,NULL,'This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N- and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(46686,'NCBI Gene PubMed Count',NULL,18305,NULL,NULL,NULL,22,NULL,NULL,NULL),(46687,'NCBI Gene PubMed Count',NULL,18307,NULL,NULL,NULL,4,NULL,NULL,NULL),(46688,'NCBI Gene PubMed Count',NULL,18308,NULL,NULL,NULL,4,NULL,NULL,NULL),(46689,'NCBI Gene Summary',NULL,18309,NULL,'The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(46690,'NCBI Gene PubMed Count',NULL,18309,NULL,NULL,NULL,31,NULL,NULL,NULL),(46691,'NCBI Gene Summary',NULL,18310,NULL,'The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(46692,'NCBI Gene PubMed Count',NULL,18310,NULL,NULL,NULL,204,NULL,NULL,NULL),(46693,'NCBI Gene Summary',NULL,18311,NULL,'This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion channels that open in response to the binding of extracellular adenosine 5\'-triphosphate (ATP). The encoded protein is a subunit of the trimeric P2X3 receptor ion channel which is expressed by sensory or autonomic neurons. A deficiency of the orthologous protein in mice is associated with reduced pain-related behavior and urinary bladder hyporeflexia. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(46694,'NCBI Gene PubMed Count',NULL,18311,NULL,NULL,NULL,63,NULL,NULL,NULL),(46695,'NCBI Gene Summary',NULL,18312,NULL,'The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(46696,'NCBI Gene PubMed Count',NULL,18312,NULL,NULL,NULL,76,NULL,NULL,NULL),(46697,'NCBI Gene PubMed Count',NULL,18313,NULL,NULL,NULL,11,NULL,NULL,NULL),(46698,'NCBI Gene Summary',NULL,18314,NULL,'The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(46699,'NCBI Gene PubMed Count',NULL,18314,NULL,NULL,NULL,388,NULL,NULL,NULL),(46700,'NCBI Gene Summary',NULL,18315,NULL,'The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46701,'NCBI Gene PubMed Count',NULL,18315,NULL,NULL,NULL,106,NULL,NULL,NULL),(46702,'NCBI Gene Summary',NULL,18316,NULL,'The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, found on many cell types, is activated by ATP and UTP and is reported to be overexpressed on some cancer cell types. It is involved in many cellular functions, such as proliferation, apoptosis and inflammation. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(46703,'NCBI Gene PubMed Count',NULL,18316,NULL,NULL,NULL,119,NULL,NULL,NULL),(46704,'NCBI Gene Summary',NULL,18317,NULL,'This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(46705,'NCBI Gene PubMed Count',NULL,18317,NULL,NULL,NULL,9,NULL,NULL,NULL),(46706,'NCBI Gene Summary',NULL,18318,NULL,'The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, which is a G-protein coupled receptor, is responsive to UDP, partially responsive to UTP and ADP, and not responsive to ATP. It is proposed that this receptor mediates inflammatory responses. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(46707,'NCBI Gene PubMed Count',NULL,18318,NULL,NULL,NULL,49,NULL,NULL,NULL),(46708,'NCBI Gene Summary',NULL,18319,NULL,'This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(46709,'NCBI Gene PubMed Count',NULL,18319,NULL,NULL,NULL,31,NULL,NULL,NULL),(46710,'NCBI Gene Summary',NULL,18320,NULL,'This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(46711,'NCBI Gene PubMed Count',NULL,18320,NULL,NULL,NULL,8562,NULL,NULL,NULL),(46712,'NCBI Gene Summary',NULL,18321,NULL,'This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(46713,'NCBI Gene PubMed Count',NULL,18321,NULL,NULL,NULL,558,NULL,NULL,NULL),(46714,'NCBI Gene Summary',NULL,18322,NULL,'The protein encoded by this gene is a member of the phospholipase A2 family (PLA2). PLA2s constitute a diverse family of enzymes with respect to sequence, function, localization, and divalent cation requirements. This gene product belongs to group II, which contains secreted form of PLA2, an extracellular enzyme that has a low molecular mass and requires calcium ions for catalysis. It catalyzes the hydrolysis of the sn-2 fatty acid acyl ester bond of phosphoglycerides, releasing free fatty acids and lysophospholipids, and thought to participate in the regulation of the phospholipid metabolism in biomembranes. Several alternatively spliced transcript variants with different 5\' UTRs have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(46715,'NCBI Gene PubMed Count',NULL,18322,NULL,NULL,NULL,197,NULL,NULL,NULL),(46716,'NCBI Gene Summary',NULL,18323,NULL,'The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules, and spindle poles, and loss of gamma-tubulin from spindle poles. The protein localizes to the Golgi apparatus during interphase, and levels of the protein increase after the G1/S transition. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46717,'NCBI Gene PubMed Count',NULL,18323,NULL,NULL,NULL,17,NULL,NULL,NULL),(46718,'NCBI Gene PubMed Count',NULL,18324,NULL,NULL,NULL,2,NULL,NULL,NULL),(46719,'NCBI Gene Summary',NULL,18325,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46720,'NCBI Gene PubMed Count',NULL,18325,NULL,NULL,NULL,2,NULL,NULL,NULL),(46721,'NCBI Gene Summary',NULL,18326,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46722,'NCBI Gene PubMed Count',NULL,18326,NULL,NULL,NULL,4,NULL,NULL,NULL),(46723,'NCBI Gene Summary',NULL,18327,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(46724,'NCBI Gene PubMed Count',NULL,18327,NULL,NULL,NULL,6,NULL,NULL,NULL),(46725,'NCBI Gene Summary',NULL,18328,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46726,'NCBI Gene PubMed Count',NULL,18328,NULL,NULL,NULL,2,NULL,NULL,NULL),(46727,'NCBI Gene Summary',NULL,18329,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46728,'NCBI Gene PubMed Count',NULL,18329,NULL,NULL,NULL,2,NULL,NULL,NULL),(46729,'NCBI Gene Summary',NULL,18330,NULL,'This gene encodes a 3\'-to-5\' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(46730,'NCBI Gene PubMed Count',NULL,18330,NULL,NULL,NULL,21,NULL,NULL,NULL),(46731,'NCBI Gene Summary',NULL,18331,NULL,'This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(46732,'NCBI Gene PubMed Count',NULL,18331,NULL,NULL,NULL,10,NULL,NULL,NULL),(46733,'NCBI Gene Summary',NULL,18332,NULL,'Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(46734,'NCBI Gene PubMed Count',NULL,18332,NULL,NULL,NULL,507,NULL,NULL,NULL),(46735,'NCBI Gene Summary',NULL,18333,NULL,'This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(46736,'NCBI Gene PubMed Count',NULL,18333,NULL,NULL,NULL,747,NULL,NULL,NULL),(46737,'NCBI Gene PubMed Count',NULL,18334,NULL,NULL,NULL,8,NULL,NULL,NULL),(46738,'NCBI Gene Summary',NULL,18335,NULL,'This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46739,'NCBI Gene PubMed Count',NULL,18335,NULL,NULL,NULL,49,NULL,NULL,NULL),(46740,'NCBI Gene Summary',NULL,18336,NULL,'This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(46741,'NCBI Gene PubMed Count',NULL,18336,NULL,NULL,NULL,32,NULL,NULL,NULL),(46742,'NCBI Gene PubMed Count',NULL,18337,NULL,NULL,NULL,11,NULL,NULL,NULL),(46743,'NCBI Gene PubMed Count',NULL,18338,NULL,NULL,NULL,36,NULL,NULL,NULL),(46744,'NCBI Gene Summary',NULL,18339,NULL,'This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(46745,'NCBI Gene PubMed Count',NULL,18339,NULL,NULL,NULL,49,NULL,NULL,NULL),(46746,'NCBI Gene Summary',NULL,18340,NULL,'This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]',NULL,NULL,NULL,NULL,NULL),(46747,'NCBI Gene PubMed Count',NULL,18340,NULL,NULL,NULL,12,NULL,NULL,NULL),(46748,'NCBI Gene PubMed Count',NULL,18341,NULL,NULL,NULL,6,NULL,NULL,NULL),(46749,'NCBI Gene Summary',NULL,18342,NULL,'This gene is a member of the kernel lipocalin superfamily whose members share relatively low sequence similarity but have highly conserved exon/intron structure and three-dimensional protein folding. Most lipocalins are clustered on the long arm of chromosome 9. The encoded glycoprotein has been previously referred to as pregnancy-associated endometrial alpha-2-globulin, placental protein 14, and glycodelin, but has been officially named progestagen-associated endometrial protein. Three distinct forms, with identical protein backbones but different glycosylation profiles, are found in amniotic fluid, follicular fluid and seminal plasma of the reproductive system. These glycoproteins have distinct and essential roles in regulating a uterine environment suitable for pregnancy and in the timing and occurrence of the appropriate sequence of events in the fertilization process. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(46750,'NCBI Gene PubMed Count',NULL,18342,NULL,NULL,NULL,119,NULL,NULL,NULL),(46751,'NCBI Gene PubMed Count',NULL,18343,NULL,NULL,NULL,7,NULL,NULL,NULL),(46752,'NCBI Gene Summary',NULL,18344,NULL,'C16ORF53 (PA1) is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM, May 2008]',NULL,NULL,NULL,NULL,NULL),(46753,'NCBI Gene PubMed Count',NULL,18344,NULL,NULL,NULL,12,NULL,NULL,NULL),(46754,'NCBI Gene PubMed Count',NULL,18345,NULL,NULL,NULL,100,NULL,NULL,NULL),(46755,'NCBI Gene PubMed Count',NULL,18346,NULL,NULL,NULL,43,NULL,NULL,NULL),(46756,'NCBI Gene PubMed Count',NULL,18347,NULL,NULL,NULL,2,NULL,NULL,NULL),(46757,'NCBI Gene PubMed Count',NULL,18348,NULL,NULL,NULL,1,NULL,NULL,NULL),(46758,'NCBI Gene Summary',NULL,18349,NULL,'This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46759,'NCBI Gene PubMed Count',NULL,18349,NULL,NULL,NULL,173,NULL,NULL,NULL),(46760,'NCBI Gene Summary',NULL,18350,NULL,'This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46761,'NCBI Gene PubMed Count',NULL,18350,NULL,NULL,NULL,16,NULL,NULL,NULL),(46762,'NCBI Gene Summary',NULL,18351,NULL,'This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(46763,'NCBI Gene PubMed Count',NULL,18351,NULL,NULL,NULL,67,NULL,NULL,NULL),(46764,'NCBI Gene PubMed Count',NULL,18352,NULL,NULL,NULL,15,NULL,NULL,NULL),(46765,'NCBI Gene PubMed Count',NULL,18353,NULL,NULL,NULL,18,NULL,NULL,NULL),(46766,'NCBI Gene Summary',NULL,18354,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46767,'NCBI Gene PubMed Count',NULL,18354,NULL,NULL,NULL,7,NULL,NULL,NULL),(46768,'NCBI Gene Summary',NULL,18355,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46769,'NCBI Gene PubMed Count',NULL,18355,NULL,NULL,NULL,7,NULL,NULL,NULL),(46770,'NCBI Gene Summary',NULL,18356,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46771,'NCBI Gene PubMed Count',NULL,18356,NULL,NULL,NULL,4,NULL,NULL,NULL),(46772,'NCBI Gene Summary',NULL,18357,NULL,'This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46773,'NCBI Gene PubMed Count',NULL,18357,NULL,NULL,NULL,19,NULL,NULL,NULL),(46774,'NCBI Gene Summary',NULL,18358,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46775,'NCBI Gene PubMed Count',NULL,18358,NULL,NULL,NULL,2,NULL,NULL,NULL),(46776,'NCBI Gene Summary',NULL,18359,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46777,'NCBI Gene PubMed Count',NULL,18359,NULL,NULL,NULL,4,NULL,NULL,NULL),(46778,'NCBI Gene Summary',NULL,18360,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46779,'NCBI Gene PubMed Count',NULL,18360,NULL,NULL,NULL,11,NULL,NULL,NULL),(46780,'NCBI Gene Summary',NULL,18361,NULL,'The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46781,'NCBI Gene PubMed Count',NULL,18361,NULL,NULL,NULL,83,NULL,NULL,NULL),(46782,'NCBI Gene Summary',NULL,18362,NULL,'This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(46783,'NCBI Gene PubMed Count',NULL,18362,NULL,NULL,NULL,23,NULL,NULL,NULL),(46784,'NCBI Gene Summary',NULL,18363,NULL,'The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(46785,'NCBI Gene PubMed Count',NULL,18363,NULL,NULL,NULL,40,NULL,NULL,NULL),(46786,'NCBI Gene Summary',NULL,18364,NULL,'The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(46787,'NCBI Gene PubMed Count',NULL,18364,NULL,NULL,NULL,22,NULL,NULL,NULL),(46788,'NCBI Gene Summary',NULL,18365,NULL,'Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(46789,'NCBI Gene PubMed Count',NULL,18365,NULL,NULL,NULL,136,NULL,NULL,NULL),(46790,'NCBI Gene Summary',NULL,18366,NULL,'The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46791,'NCBI Gene PubMed Count',NULL,18366,NULL,NULL,NULL,17,NULL,NULL,NULL),(46792,'NCBI Gene Summary',NULL,18367,NULL,'This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains multiple tetratricopeptide repeats that are required for optimal recognition of substrates. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(46793,'NCBI Gene PubMed Count',NULL,18367,NULL,NULL,NULL,149,NULL,NULL,NULL),(46794,'NCBI Gene Summary',NULL,18368,NULL,'The human placenta is a multihormonal endocrine organ that produces hormones, enzymes, and other molecules that support fetal survival and development. Pregnancy-specific beta-1-glycoprotein (PSBG, PSG) is a major product of the syncytiotrophoblast, reaching concentrations of 100 to 290 mg/l at term in the serum of pregnant women (Horne et al., 1976 [PubMed 971765]). PSG is a member of the immunoglobulin (Ig) superfamily (Watanabe and Chou, 1988 [PubMed 3257488]; Streydio et al., 1988 [PubMed 3260773]).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(46795,'NCBI Gene PubMed Count',NULL,18368,NULL,NULL,NULL,37,NULL,NULL,NULL),(46796,'NCBI Gene Summary',NULL,18369,NULL,'This gene was identified due to its downregulation in hepatocarcinomas. The encoded protein may be involved in liver development and function. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(46797,'NCBI Gene PubMed Count',NULL,18369,NULL,NULL,NULL,9,NULL,NULL,NULL),(46798,'NCBI Gene Summary',NULL,18370,NULL,'The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(46799,'NCBI Gene PubMed Count',NULL,18370,NULL,NULL,NULL,7,NULL,NULL,NULL),(46800,'NCBI Gene PubMed Count',NULL,18371,NULL,NULL,NULL,116,NULL,NULL,NULL),(46801,'NCBI Gene PubMed Count',NULL,18372,NULL,NULL,NULL,4,NULL,NULL,NULL),(46802,'NCBI Gene Summary',NULL,18373,NULL,'The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(46803,'NCBI Gene PubMed Count',NULL,18373,NULL,NULL,NULL,214,NULL,NULL,NULL),(46804,'NCBI Gene PubMed Count',NULL,18374,NULL,NULL,NULL,3,NULL,NULL,NULL),(46805,'NCBI Gene Summary',NULL,18375,NULL,'The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(46806,'NCBI Gene PubMed Count',NULL,18375,NULL,NULL,NULL,29,NULL,NULL,NULL),(46807,'NCBI Gene PubMed Count',NULL,18376,NULL,NULL,NULL,23,NULL,NULL,NULL),(46808,'NCBI Gene PubMed Count',NULL,18377,NULL,NULL,NULL,15,NULL,NULL,NULL),(46809,'NCBI Gene Summary',NULL,18378,NULL,'This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46810,'NCBI Gene PubMed Count',NULL,18378,NULL,NULL,NULL,37,NULL,NULL,NULL),(46811,'NCBI Gene Summary',NULL,18379,NULL,'Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. In addition to the visual opsins, mammals possess several photoreceptive non-visual opsins that are expressed in extraocular tissues. This gene, opsin 3, is strongly expressed in brain and testis and weakly expressed in liver, placenta, heart, lung, skeletal muscle, kidney, and pancreas. The gene may also be expressed in the retina. The protein has the canonical features of a photoreceptive opsin protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46812,'NCBI Gene PubMed Count',NULL,18379,NULL,NULL,NULL,15,NULL,NULL,NULL),(46813,'NCBI Gene Summary',NULL,18380,NULL,'Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46814,'NCBI Gene PubMed Count',NULL,18380,NULL,NULL,NULL,40,NULL,NULL,NULL),(46815,'NCBI Gene Summary',NULL,18381,NULL,'Alzheimer\'s disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46816,'NCBI Gene PubMed Count',NULL,18381,NULL,NULL,NULL,204,NULL,NULL,NULL),(46817,'NCBI Gene Summary',NULL,18382,NULL,'This gene encodes a nucleolar protein that localizes to punctate subnuclear structures that occur close to splicing speckles, known as paraspeckles. These paraspeckles are composed of RNA-protein structures that include a non-coding RNA, NEAT1/Men epsilon/beta, and the Drosophila Behavior Human Splicing family of proteins, which include the product of this gene and the P54NRB/NONO and PSF/SFPQ proteins. Paraspeckles may function in the control of gene expression via an RNA nuclear retention mechanism. The protein encoded by this gene is found in paraspeckles in transcriptionally active cells, but it localizes to unique cap structures at the nucleolar periphery when RNA polymerase II transcription is inhibited, or during telophase. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene, which is also located on chromosome 13, has been identified. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(46818,'NCBI Gene PubMed Count',NULL,18382,NULL,NULL,NULL,34,NULL,NULL,NULL),(46819,'NCBI Gene Summary',NULL,18383,NULL,'This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(46820,'NCBI Gene PubMed Count',NULL,18383,NULL,NULL,NULL,108,NULL,NULL,NULL),(46821,'NCBI Gene Summary',NULL,18384,NULL,'This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(46822,'NCBI Gene PubMed Count',NULL,18384,NULL,NULL,NULL,72,NULL,NULL,NULL),(46823,'NCBI Gene PubMed Count',NULL,18385,NULL,NULL,NULL,122,NULL,NULL,NULL),(46824,'NCBI Gene Summary',NULL,18386,NULL,'This gene encodes an opioid receptor, which is a member of the 7 transmembrane-spanning G protein-coupled receptor family. It functions as a receptor for endogenous ligands, as well as a receptor for various synthetic opioids. Ligand binding results in inhibition of adenylate cyclase activity and neurotransmitter release. This opioid receptor plays a role in the perception of pain and mediating the hypolocomotor, analgesic and aversive actions of synthetic opioids. Variations in this gene have also been associated with alcohol dependence and opiate addiction. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]',NULL,NULL,NULL,NULL,NULL),(46825,'NCBI Gene PubMed Count',NULL,18386,NULL,NULL,NULL,105,NULL,NULL,NULL),(46826,'NCBI Gene Summary',NULL,18387,NULL,'The protein encoded by this gene is a member of the 7 transmembrane-spanning G protein-coupled receptor family, and functions as a receptor for the endogenous, opioid-related neuropeptide, nociceptin/orphanin FQ. This receptor-ligand system modulates a variety of biological functions and neurobehavior, including stress responses and anxiety behavior, learning and memory, locomotor activity, and inflammatory and immune responses. A promoter region between this gene and the 5\'-adjacent RGS19 (regulator of G-protein signaling 19) gene on the opposite strand functions bi-directionally as a core-promoter for both genes, suggesting co-operative transcriptional regulation of these two functionally related genes. Alternatively spliced transcript variants have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]',NULL,NULL,NULL,NULL,NULL),(46827,'NCBI Gene PubMed Count',NULL,18387,NULL,NULL,NULL,66,NULL,NULL,NULL),(46828,'NCBI Gene Summary',NULL,18388,NULL,'This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(46829,'NCBI Gene PubMed Count',NULL,18388,NULL,NULL,NULL,12,NULL,NULL,NULL),(46830,'NCBI Gene PubMed Count',NULL,18389,NULL,NULL,NULL,1,NULL,NULL,NULL),(46831,'NCBI Gene Summary',NULL,18390,NULL,'This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46832,'NCBI Gene PubMed Count',NULL,18390,NULL,NULL,NULL,52,NULL,NULL,NULL),(46833,'NCBI Gene Summary',NULL,18391,NULL,'Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46834,'NCBI Gene PubMed Count',NULL,18391,NULL,NULL,NULL,19,NULL,NULL,NULL),(46835,'NCBI Gene Summary',NULL,18392,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46836,'NCBI Gene PubMed Count',NULL,18392,NULL,NULL,NULL,4,NULL,NULL,NULL),(46837,'NCBI Gene Summary',NULL,18393,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46838,'NCBI Gene PubMed Count',NULL,18393,NULL,NULL,NULL,14,NULL,NULL,NULL),(46839,'NCBI Gene Summary',NULL,18394,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(46840,'NCBI Gene PubMed Count',NULL,18394,NULL,NULL,NULL,2,NULL,NULL,NULL),(46841,'NCBI Gene Summary',NULL,18395,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46842,'NCBI Gene PubMed Count',NULL,18395,NULL,NULL,NULL,10,NULL,NULL,NULL),(46843,'NCBI Gene Summary',NULL,18396,NULL,'This gene encodes a G-protein-coupled receptor (GPCR) that functions as an olfactory receptor. Olfactory receptors interact with odorant molecules in the nose to initiate a neuronal response that triggers the perception of a smell. The protein encoded by this gene responds to cis-3-hexen-1-ol, which is released by wounded plants, including cut grass. This gene is situated in a cluster of similar olfactory-receptor coding genes on chromosome 6. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(46844,'NCBI Gene PubMed Count',NULL,18396,NULL,NULL,NULL,14,NULL,NULL,NULL),(46845,'NCBI Gene Summary',NULL,18397,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46846,'NCBI Gene PubMed Count',NULL,18397,NULL,NULL,NULL,9,NULL,NULL,NULL),(46847,'NCBI Gene Summary',NULL,18398,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46848,'NCBI Gene PubMed Count',NULL,18398,NULL,NULL,NULL,2,NULL,NULL,NULL),(46849,'NCBI Gene Summary',NULL,18399,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46850,'NCBI Gene PubMed Count',NULL,18399,NULL,NULL,NULL,8,NULL,NULL,NULL),(46851,'NCBI Gene Summary',NULL,18400,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46852,'NCBI Gene PubMed Count',NULL,18400,NULL,NULL,NULL,2,NULL,NULL,NULL),(46853,'NCBI Gene Summary',NULL,18401,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46854,'NCBI Gene PubMed Count',NULL,18401,NULL,NULL,NULL,10,NULL,NULL,NULL),(46855,'NCBI Gene Summary',NULL,18402,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46856,'NCBI Gene PubMed Count',NULL,18402,NULL,NULL,NULL,5,NULL,NULL,NULL),(46857,'NCBI Gene Summary',NULL,18403,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46858,'NCBI Gene PubMed Count',NULL,18403,NULL,NULL,NULL,3,NULL,NULL,NULL),(46859,'NCBI Gene Summary',NULL,18404,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46860,'NCBI Gene PubMed Count',NULL,18404,NULL,NULL,NULL,4,NULL,NULL,NULL),(46861,'NCBI Gene Summary',NULL,18405,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46862,'NCBI Gene PubMed Count',NULL,18405,NULL,NULL,NULL,2,NULL,NULL,NULL),(46863,'NCBI Gene Summary',NULL,18406,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46864,'NCBI Gene PubMed Count',NULL,18406,NULL,NULL,NULL,5,NULL,NULL,NULL),(46865,'NCBI Gene Summary',NULL,18407,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46866,'NCBI Gene PubMed Count',NULL,18407,NULL,NULL,NULL,1,NULL,NULL,NULL),(46867,'NCBI Gene Summary',NULL,18408,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46868,'NCBI Gene PubMed Count',NULL,18408,NULL,NULL,NULL,3,NULL,NULL,NULL),(46869,'NCBI Gene Summary',NULL,18409,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46870,'NCBI Gene PubMed Count',NULL,18409,NULL,NULL,NULL,8,NULL,NULL,NULL),(46871,'NCBI Gene Summary',NULL,18410,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46872,'NCBI Gene PubMed Count',NULL,18410,NULL,NULL,NULL,11,NULL,NULL,NULL),(46873,'NCBI Gene Summary',NULL,18411,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene has a coding sequence that is comparable in length to other olfactory receptor genes, but it should be noted that a frameshift is present in the 3\' coding region that disrupts the 7-transmembrane domain structure in the protein. It is unclear if the protein can function as an olfactory receptor or if an alternate function is served. For this reason, this gene has also been interpreted to be a pseudogene. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(46874,'NCBI Gene PubMed Count',NULL,18411,NULL,NULL,NULL,5,NULL,NULL,NULL),(46875,'NCBI Gene Summary',NULL,18412,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46876,'NCBI Gene PubMed Count',NULL,18412,NULL,NULL,NULL,6,NULL,NULL,NULL),(46877,'NCBI Gene Summary',NULL,18413,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46878,'NCBI Gene PubMed Count',NULL,18413,NULL,NULL,NULL,4,NULL,NULL,NULL),(46879,'NCBI Gene Summary',NULL,18414,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46880,'NCBI Gene PubMed Count',NULL,18414,NULL,NULL,NULL,11,NULL,NULL,NULL),(46881,'NCBI Gene Summary',NULL,18415,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46882,'NCBI Gene PubMed Count',NULL,18415,NULL,NULL,NULL,5,NULL,NULL,NULL),(46883,'NCBI Gene Summary',NULL,18416,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46884,'NCBI Gene PubMed Count',NULL,18416,NULL,NULL,NULL,3,NULL,NULL,NULL),(46885,'NCBI Gene Summary',NULL,18417,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is transcribed and contains an intact ORF, but it is predicted to be a pseudogene due to a poorly conserved 7-transmembrane domain structure. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(46886,'NCBI Gene PubMed Count',NULL,18417,NULL,NULL,NULL,8,NULL,NULL,NULL),(46887,'NCBI Gene Summary',NULL,18418,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46888,'NCBI Gene PubMed Count',NULL,18418,NULL,NULL,NULL,3,NULL,NULL,NULL),(46889,'NCBI Gene Summary',NULL,18419,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46890,'NCBI Gene PubMed Count',NULL,18419,NULL,NULL,NULL,5,NULL,NULL,NULL),(46891,'NCBI Gene Summary',NULL,18420,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46892,'NCBI Gene PubMed Count',NULL,18420,NULL,NULL,NULL,4,NULL,NULL,NULL),(46893,'NCBI Gene Summary',NULL,18421,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46894,'NCBI Gene PubMed Count',NULL,18421,NULL,NULL,NULL,2,NULL,NULL,NULL),(46895,'NCBI Gene Summary',NULL,18422,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46896,'NCBI Gene PubMed Count',NULL,18422,NULL,NULL,NULL,6,NULL,NULL,NULL),(46897,'NCBI Gene Summary',NULL,18423,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46898,'NCBI Gene PubMed Count',NULL,18423,NULL,NULL,NULL,3,NULL,NULL,NULL),(46899,'NCBI Gene Summary',NULL,18424,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46900,'NCBI Gene PubMed Count',NULL,18424,NULL,NULL,NULL,3,NULL,NULL,NULL),(46901,'NCBI Gene Summary',NULL,18425,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46902,'NCBI Gene PubMed Count',NULL,18425,NULL,NULL,NULL,5,NULL,NULL,NULL),(46903,'NCBI Gene Summary',NULL,18426,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46904,'NCBI Gene PubMed Count',NULL,18426,NULL,NULL,NULL,7,NULL,NULL,NULL),(46905,'NCBI Gene Summary',NULL,18427,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46906,'NCBI Gene PubMed Count',NULL,18427,NULL,NULL,NULL,3,NULL,NULL,NULL),(46907,'NCBI Gene Summary',NULL,18428,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(46908,'NCBI Gene PubMed Count',NULL,18428,NULL,NULL,NULL,5,NULL,NULL,NULL),(46909,'NCBI Gene Summary',NULL,18429,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46910,'NCBI Gene PubMed Count',NULL,18429,NULL,NULL,NULL,3,NULL,NULL,NULL),(46911,'NCBI Gene Summary',NULL,18430,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46912,'NCBI Gene PubMed Count',NULL,18430,NULL,NULL,NULL,3,NULL,NULL,NULL),(46913,'NCBI Gene Summary',NULL,18431,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46914,'NCBI Gene PubMed Count',NULL,18431,NULL,NULL,NULL,2,NULL,NULL,NULL),(46915,'NCBI Gene Summary',NULL,18432,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46916,'NCBI Gene PubMed Count',NULL,18432,NULL,NULL,NULL,2,NULL,NULL,NULL),(46917,'NCBI Gene Summary',NULL,18433,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46918,'NCBI Gene PubMed Count',NULL,18433,NULL,NULL,NULL,3,NULL,NULL,NULL),(46919,'NCBI Gene Summary',NULL,18434,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a seven-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(46920,'NCBI Gene PubMed Count',NULL,18434,NULL,NULL,NULL,3,NULL,NULL,NULL),(46921,'NCBI Gene Summary',NULL,18435,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46922,'NCBI Gene PubMed Count',NULL,18435,NULL,NULL,NULL,2,NULL,NULL,NULL),(46923,'NCBI Gene Summary',NULL,18436,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(46924,'NCBI Gene PubMed Count',NULL,18436,NULL,NULL,NULL,4,NULL,NULL,NULL),(46925,'NCBI Gene Summary',NULL,18437,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46926,'NCBI Gene PubMed Count',NULL,18437,NULL,NULL,NULL,3,NULL,NULL,NULL),(46927,'NCBI Gene Summary',NULL,18438,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(46928,'NCBI Gene PubMed Count',NULL,18438,NULL,NULL,NULL,6,NULL,NULL,NULL),(46929,'NCBI Gene Summary',NULL,18439,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46930,'NCBI Gene PubMed Count',NULL,18439,NULL,NULL,NULL,4,NULL,NULL,NULL),(46931,'NCBI Gene Summary',NULL,18440,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46932,'NCBI Gene PubMed Count',NULL,18440,NULL,NULL,NULL,2,NULL,NULL,NULL),(46933,'NCBI Gene Summary',NULL,18441,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46934,'NCBI Gene PubMed Count',NULL,18441,NULL,NULL,NULL,5,NULL,NULL,NULL),(46935,'NCBI Gene Summary',NULL,18442,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46936,'NCBI Gene PubMed Count',NULL,18442,NULL,NULL,NULL,2,NULL,NULL,NULL),(46937,'NCBI Gene Summary',NULL,18443,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46938,'NCBI Gene PubMed Count',NULL,18443,NULL,NULL,NULL,3,NULL,NULL,NULL),(46939,'NCBI Gene Summary',NULL,18444,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(46940,'NCBI Gene PubMed Count',NULL,18444,NULL,NULL,NULL,3,NULL,NULL,NULL),(46941,'NCBI Gene Summary',NULL,18445,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46942,'NCBI Gene PubMed Count',NULL,18445,NULL,NULL,NULL,3,NULL,NULL,NULL),(46943,'NCBI Gene Summary',NULL,18446,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46944,'NCBI Gene PubMed Count',NULL,18446,NULL,NULL,NULL,1,NULL,NULL,NULL),(46945,'NCBI Gene Summary',NULL,18447,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(46946,'NCBI Gene PubMed Count',NULL,18447,NULL,NULL,NULL,6,NULL,NULL,NULL),(46947,'NCBI Gene Summary',NULL,18448,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46948,'NCBI Gene PubMed Count',NULL,18448,NULL,NULL,NULL,4,NULL,NULL,NULL),(46949,'NCBI Gene Summary',NULL,18449,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46950,'NCBI Gene PubMed Count',NULL,18449,NULL,NULL,NULL,3,NULL,NULL,NULL),(46951,'NCBI Gene Summary',NULL,18450,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46952,'NCBI Gene PubMed Count',NULL,18450,NULL,NULL,NULL,4,NULL,NULL,NULL),(46953,'NCBI Gene Summary',NULL,18451,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46954,'NCBI Gene PubMed Count',NULL,18451,NULL,NULL,NULL,4,NULL,NULL,NULL),(46955,'NCBI Gene Summary',NULL,18452,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46956,'NCBI Gene PubMed Count',NULL,18452,NULL,NULL,NULL,3,NULL,NULL,NULL),(46957,'NCBI Gene Summary',NULL,18453,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46958,'NCBI Gene PubMed Count',NULL,18453,NULL,NULL,NULL,7,NULL,NULL,NULL),(46959,'NCBI Gene Summary',NULL,18454,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46960,'NCBI Gene PubMed Count',NULL,18454,NULL,NULL,NULL,5,NULL,NULL,NULL),(46961,'NCBI Gene Summary',NULL,18455,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46962,'NCBI Gene PubMed Count',NULL,18455,NULL,NULL,NULL,2,NULL,NULL,NULL),(46963,'NCBI Gene Summary',NULL,18456,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46964,'NCBI Gene PubMed Count',NULL,18456,NULL,NULL,NULL,4,NULL,NULL,NULL),(46965,'NCBI Gene Summary',NULL,18457,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46966,'NCBI Gene PubMed Count',NULL,18457,NULL,NULL,NULL,6,NULL,NULL,NULL),(46967,'NCBI Gene Summary',NULL,18458,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46968,'NCBI Gene PubMed Count',NULL,18458,NULL,NULL,NULL,2,NULL,NULL,NULL),(46969,'NCBI Gene Summary',NULL,18459,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46970,'NCBI Gene PubMed Count',NULL,18459,NULL,NULL,NULL,3,NULL,NULL,NULL),(46971,'NCBI Gene Summary',NULL,18460,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46972,'NCBI Gene PubMed Count',NULL,18460,NULL,NULL,NULL,5,NULL,NULL,NULL),(46973,'NCBI Gene PubMed Count',NULL,18461,NULL,NULL,NULL,3,NULL,NULL,NULL),(46974,'NCBI Gene Summary',NULL,18462,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(46975,'NCBI Gene PubMed Count',NULL,18462,NULL,NULL,NULL,6,NULL,NULL,NULL),(46976,'NCBI Gene Summary',NULL,18463,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46977,'NCBI Gene PubMed Count',NULL,18463,NULL,NULL,NULL,2,NULL,NULL,NULL),(46978,'NCBI Gene Summary',NULL,18464,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46979,'NCBI Gene PubMed Count',NULL,18464,NULL,NULL,NULL,4,NULL,NULL,NULL),(46980,'NCBI Gene Summary',NULL,18465,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46981,'NCBI Gene PubMed Count',NULL,18465,NULL,NULL,NULL,2,NULL,NULL,NULL),(46982,'NCBI Gene Summary',NULL,18466,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46983,'NCBI Gene PubMed Count',NULL,18466,NULL,NULL,NULL,9,NULL,NULL,NULL),(46984,'NCBI Gene Summary',NULL,18467,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46985,'NCBI Gene PubMed Count',NULL,18467,NULL,NULL,NULL,4,NULL,NULL,NULL),(46986,'NCBI Gene Summary',NULL,18468,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46987,'NCBI Gene PubMed Count',NULL,18468,NULL,NULL,NULL,4,NULL,NULL,NULL),(46988,'NCBI Gene Summary',NULL,18469,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46989,'NCBI Gene PubMed Count',NULL,18469,NULL,NULL,NULL,2,NULL,NULL,NULL),(46990,'NCBI Gene Summary',NULL,18470,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46991,'NCBI Gene PubMed Count',NULL,18470,NULL,NULL,NULL,4,NULL,NULL,NULL),(46992,'NCBI Gene Summary',NULL,18471,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46993,'NCBI Gene PubMed Count',NULL,18471,NULL,NULL,NULL,4,NULL,NULL,NULL),(46994,'NCBI Gene Summary',NULL,18472,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(46995,'NCBI Gene PubMed Count',NULL,18472,NULL,NULL,NULL,4,NULL,NULL,NULL),(46996,'NCBI Gene Summary',NULL,18473,NULL,'The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(46997,'NCBI Gene PubMed Count',NULL,18473,NULL,NULL,NULL,45,NULL,NULL,NULL),(46998,'NCBI Gene Summary',NULL,18474,NULL,'Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(46999,'NCBI Gene PubMed Count',NULL,18474,NULL,NULL,NULL,20,NULL,NULL,NULL),(47000,'NCBI Gene Summary',NULL,18475,NULL,'Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47001,'NCBI Gene PubMed Count',NULL,18475,NULL,NULL,NULL,242,NULL,NULL,NULL),(47002,'NCBI Gene PubMed Count',NULL,18476,NULL,NULL,NULL,6,NULL,NULL,NULL),(47003,'NCBI Gene Summary',NULL,18477,NULL,'The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(47004,'NCBI Gene PubMed Count',NULL,18477,NULL,NULL,NULL,16,NULL,NULL,NULL),(47005,'NCBI Gene Summary',NULL,18478,NULL,'The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(47006,'NCBI Gene PubMed Count',NULL,18478,NULL,NULL,NULL,63,NULL,NULL,NULL),(47007,'NCBI Gene Summary',NULL,18479,NULL,'Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex protein family that plays critical roles in the regulation of both innate and adaptive immune responses. The encoded protein may play a role in oxidative stress-mediated atherogenesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(47008,'NCBI Gene PubMed Count',NULL,18479,NULL,NULL,NULL,27,NULL,NULL,NULL),(47009,'NCBI Gene PubMed Count',NULL,18480,NULL,NULL,NULL,16,NULL,NULL,NULL),(47010,'NCBI Gene PubMed Count',NULL,18481,NULL,NULL,NULL,8,NULL,NULL,NULL),(47011,'NCBI Gene PubMed Count',NULL,18482,NULL,NULL,NULL,20,NULL,NULL,NULL),(47012,'NCBI Gene PubMed Count',NULL,18483,NULL,NULL,NULL,6,NULL,NULL,NULL),(47013,'NCBI Gene PubMed Count',NULL,18484,NULL,NULL,NULL,0,NULL,NULL,NULL),(47014,'NCBI Gene Summary',NULL,18485,NULL,'This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(47015,'NCBI Gene PubMed Count',NULL,18485,NULL,NULL,NULL,31,NULL,NULL,NULL),(47016,'NCBI Gene Summary',NULL,18486,NULL,'This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47017,'NCBI Gene PubMed Count',NULL,18486,NULL,NULL,NULL,13,NULL,NULL,NULL),(47018,'NCBI Gene PubMed Count',NULL,18487,NULL,NULL,NULL,18,NULL,NULL,NULL),(47019,'NCBI Gene PubMed Count',NULL,18488,NULL,NULL,NULL,10,NULL,NULL,NULL),(47020,'NCBI Gene PubMed Count',NULL,18489,NULL,NULL,NULL,6,NULL,NULL,NULL),(47021,'NCBI Gene Summary',NULL,18490,NULL,'The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(47022,'NCBI Gene PubMed Count',NULL,18490,NULL,NULL,NULL,9,NULL,NULL,NULL),(47023,'NCBI Gene PubMed Count',NULL,18491,NULL,NULL,NULL,1,NULL,NULL,NULL),(47024,'NCBI Gene Summary',NULL,18492,NULL,'The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(47025,'NCBI Gene PubMed Count',NULL,18492,NULL,NULL,NULL,9,NULL,NULL,NULL),(47026,'NCBI Gene PubMed Count',NULL,18493,NULL,NULL,NULL,9,NULL,NULL,NULL),(47027,'NCBI Gene Summary',NULL,18494,NULL,'The protein encoded by this gene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47028,'NCBI Gene PubMed Count',NULL,18494,NULL,NULL,NULL,15,NULL,NULL,NULL),(47029,'NCBI Gene Summary',NULL,18495,NULL,'This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47030,'NCBI Gene PubMed Count',NULL,18495,NULL,NULL,NULL,18,NULL,NULL,NULL),(47031,'NCBI Gene Summary',NULL,18496,NULL,'Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(47032,'NCBI Gene PubMed Count',NULL,18496,NULL,NULL,NULL,22,NULL,NULL,NULL),(47033,'NCBI Gene PubMed Count',NULL,18498,NULL,NULL,NULL,16,NULL,NULL,NULL),(47034,'NCBI Gene Summary',NULL,18499,NULL,'This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mouse is required for proper brain and sensory organ development and can cause epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(47035,'NCBI Gene PubMed Count',NULL,18499,NULL,NULL,NULL,37,NULL,NULL,NULL),(47036,'NCBI Gene Summary',NULL,18500,NULL,'This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47037,'NCBI Gene PubMed Count',NULL,18500,NULL,NULL,NULL,81,NULL,NULL,NULL),(47038,'NCBI Gene Summary',NULL,18501,NULL,'This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(47039,'NCBI Gene PubMed Count',NULL,18501,NULL,NULL,NULL,2024,NULL,NULL,NULL),(47040,'NCBI Gene Summary',NULL,18502,NULL,'This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(47041,'NCBI Gene PubMed Count',NULL,18502,NULL,NULL,NULL,32,NULL,NULL,NULL),(47042,'NCBI Gene PubMed Count',NULL,18503,NULL,NULL,NULL,11,NULL,NULL,NULL),(47043,'NCBI Gene PubMed Count',NULL,18505,NULL,NULL,NULL,16,NULL,NULL,NULL),(47044,'NCBI Gene PubMed Count',NULL,18506,NULL,NULL,NULL,6,NULL,NULL,NULL),(47045,'NCBI Gene PubMed Count',NULL,18507,NULL,NULL,NULL,4,NULL,NULL,NULL),(47046,'NCBI Gene PubMed Count',NULL,18508,NULL,NULL,NULL,0,NULL,NULL,NULL),(47047,'NCBI Gene PubMed Count',NULL,18509,NULL,NULL,NULL,1,NULL,NULL,NULL),(47048,'NCBI Gene Summary',NULL,18510,NULL,'This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(47049,'NCBI Gene PubMed Count',NULL,18510,NULL,NULL,NULL,33,NULL,NULL,NULL),(47050,'NCBI Gene Summary',NULL,18511,NULL,'This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(47051,'NCBI Gene PubMed Count',NULL,18511,NULL,NULL,NULL,9,NULL,NULL,NULL),(47052,'NCBI Gene PubMed Count',NULL,18512,NULL,NULL,NULL,4,NULL,NULL,NULL),(47053,'NCBI Gene PubMed Count',NULL,18513,NULL,NULL,NULL,7,NULL,NULL,NULL),(47054,'NCBI Gene Summary',NULL,18514,NULL,'The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(47055,'NCBI Gene PubMed Count',NULL,18514,NULL,NULL,NULL,42,NULL,NULL,NULL),(47056,'NCBI Gene Summary',NULL,18515,NULL,'This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47057,'NCBI Gene PubMed Count',NULL,18515,NULL,NULL,NULL,36,NULL,NULL,NULL),(47058,'NCBI Gene Summary',NULL,18516,NULL,'This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47059,'NCBI Gene PubMed Count',NULL,18516,NULL,NULL,NULL,26,NULL,NULL,NULL),(47060,'NCBI Gene Summary',NULL,18517,NULL,'The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47061,'NCBI Gene PubMed Count',NULL,18517,NULL,NULL,NULL,13,NULL,NULL,NULL),(47062,'NCBI Gene Summary',NULL,18518,NULL,'The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene is moderately expressed in undifferentiated HL60 cells, and is located on both chromosomes X and Y. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47063,'NCBI Gene PubMed Count',NULL,18518,NULL,NULL,NULL,14,NULL,NULL,NULL),(47064,'NCBI Gene Summary',NULL,18519,NULL,'Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(47065,'NCBI Gene PubMed Count',NULL,18519,NULL,NULL,NULL,29,NULL,NULL,NULL),(47066,'NCBI Gene Summary',NULL,18520,NULL,'This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(47067,'NCBI Gene PubMed Count',NULL,18520,NULL,NULL,NULL,20,NULL,NULL,NULL),(47068,'NCBI Gene Summary',NULL,18521,NULL,'Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(47069,'NCBI Gene PubMed Count',NULL,18521,NULL,NULL,NULL,16,NULL,NULL,NULL),(47070,'NCBI Gene Summary',NULL,18522,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47071,'NCBI Gene PubMed Count',NULL,18522,NULL,NULL,NULL,6,NULL,NULL,NULL),(47072,'NCBI Gene Summary',NULL,18523,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47073,'NCBI Gene PubMed Count',NULL,18523,NULL,NULL,NULL,4,NULL,NULL,NULL),(47074,'NCBI Gene Summary',NULL,18524,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47075,'NCBI Gene PubMed Count',NULL,18524,NULL,NULL,NULL,4,NULL,NULL,NULL),(47076,'NCBI Gene Summary',NULL,18525,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47077,'NCBI Gene PubMed Count',NULL,18525,NULL,NULL,NULL,3,NULL,NULL,NULL),(47078,'NCBI Gene Summary',NULL,18526,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47079,'NCBI Gene PubMed Count',NULL,18526,NULL,NULL,NULL,6,NULL,NULL,NULL),(47080,'NCBI Gene Summary',NULL,18527,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47081,'NCBI Gene PubMed Count',NULL,18527,NULL,NULL,NULL,6,NULL,NULL,NULL),(47082,'NCBI Gene Summary',NULL,18528,NULL,'The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(47083,'NCBI Gene PubMed Count',NULL,18528,NULL,NULL,NULL,11,NULL,NULL,NULL),(47084,'NCBI Gene Summary',NULL,18529,NULL,'This gene encodes one of at least three opioid receptors in humans; the mu opioid receptor (MOR). The MOR is the principal target of endogenous opioid peptides and opioid analgesic agents such as beta-endorphin and enkephalins. The MOR also has an important role in dependence to other drugs of abuse, such as nicotine, cocaine, and alcohol via its modulation of the dopamine system. The NM_001008503.2:c.118A>G allele has been associated with opioid and alcohol addiction and variations in pain sensitivity but evidence for it having a causal role is conflicting. Multiple transcript variants encoding different isoforms have been found for this gene. Though the canonical MOR belongs to the superfamily of 7-transmembrane-spanning G-protein-coupled receptors some isoforms of this gene have only 6 transmembrane domains. [provided by RefSeq, Oct 2013]',NULL,NULL,NULL,NULL,NULL),(47085,'NCBI Gene PubMed Count',NULL,18529,NULL,NULL,NULL,498,NULL,NULL,NULL),(47086,'NCBI Gene Summary',NULL,18530,NULL,'The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(47087,'NCBI Gene PubMed Count',NULL,18530,NULL,NULL,NULL,214,NULL,NULL,NULL),(47088,'NCBI Gene Summary',NULL,18531,NULL,'This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47089,'NCBI Gene PubMed Count',NULL,18531,NULL,NULL,NULL,24,NULL,NULL,NULL),(47090,'NCBI Gene Summary',NULL,18532,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47091,'NCBI Gene PubMed Count',NULL,18532,NULL,NULL,NULL,2,NULL,NULL,NULL),(47092,'NCBI Gene Summary',NULL,18533,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47093,'NCBI Gene PubMed Count',NULL,18533,NULL,NULL,NULL,4,NULL,NULL,NULL),(47094,'NCBI Gene Summary',NULL,18534,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47095,'NCBI Gene PubMed Count',NULL,18534,NULL,NULL,NULL,8,NULL,NULL,NULL),(47096,'NCBI Gene Summary',NULL,18535,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47097,'NCBI Gene PubMed Count',NULL,18535,NULL,NULL,NULL,4,NULL,NULL,NULL),(47098,'NCBI Gene Summary',NULL,18536,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47099,'NCBI Gene PubMed Count',NULL,18536,NULL,NULL,NULL,3,NULL,NULL,NULL),(47100,'NCBI Gene Summary',NULL,18537,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47101,'NCBI Gene PubMed Count',NULL,18537,NULL,NULL,NULL,19,NULL,NULL,NULL),(47102,'NCBI Gene Summary',NULL,18538,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47103,'NCBI Gene PubMed Count',NULL,18538,NULL,NULL,NULL,4,NULL,NULL,NULL),(47104,'NCBI Gene Summary',NULL,18539,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47105,'NCBI Gene PubMed Count',NULL,18539,NULL,NULL,NULL,5,NULL,NULL,NULL),(47106,'NCBI Gene Summary',NULL,18540,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47107,'NCBI Gene PubMed Count',NULL,18540,NULL,NULL,NULL,3,NULL,NULL,NULL),(47108,'NCBI Gene Summary',NULL,18541,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(47109,'NCBI Gene PubMed Count',NULL,18541,NULL,NULL,NULL,4,NULL,NULL,NULL),(47110,'NCBI Gene Summary',NULL,18542,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47111,'NCBI Gene PubMed Count',NULL,18542,NULL,NULL,NULL,2,NULL,NULL,NULL),(47112,'NCBI Gene Summary',NULL,18543,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(47113,'NCBI Gene PubMed Count',NULL,18543,NULL,NULL,NULL,5,NULL,NULL,NULL),(47114,'NCBI Gene Summary',NULL,18544,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47115,'NCBI Gene PubMed Count',NULL,18544,NULL,NULL,NULL,5,NULL,NULL,NULL),(47116,'NCBI Gene Summary',NULL,18545,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47117,'NCBI Gene PubMed Count',NULL,18545,NULL,NULL,NULL,4,NULL,NULL,NULL),(47118,'NCBI Gene Summary',NULL,18546,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47119,'NCBI Gene PubMed Count',NULL,18546,NULL,NULL,NULL,5,NULL,NULL,NULL),(47120,'NCBI Gene Summary',NULL,18547,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(47121,'NCBI Gene PubMed Count',NULL,18547,NULL,NULL,NULL,11,NULL,NULL,NULL),(47122,'NCBI Gene Summary',NULL,18548,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47123,'NCBI Gene PubMed Count',NULL,18548,NULL,NULL,NULL,4,NULL,NULL,NULL),(47124,'NCBI Gene Summary',NULL,18549,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47125,'NCBI Gene PubMed Count',NULL,18549,NULL,NULL,NULL,4,NULL,NULL,NULL),(47126,'NCBI Gene Summary',NULL,18550,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47127,'NCBI Gene PubMed Count',NULL,18550,NULL,NULL,NULL,9,NULL,NULL,NULL),(47128,'NCBI Gene Summary',NULL,18551,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47129,'NCBI Gene PubMed Count',NULL,18551,NULL,NULL,NULL,2,NULL,NULL,NULL),(47130,'NCBI Gene Summary',NULL,18552,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47131,'NCBI Gene PubMed Count',NULL,18552,NULL,NULL,NULL,4,NULL,NULL,NULL),(47132,'NCBI Gene Summary',NULL,18553,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47133,'NCBI Gene PubMed Count',NULL,18553,NULL,NULL,NULL,7,NULL,NULL,NULL),(47134,'NCBI Gene Summary',NULL,18554,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(47135,'NCBI Gene PubMed Count',NULL,18554,NULL,NULL,NULL,12,NULL,NULL,NULL),(47136,'NCBI Gene Summary',NULL,18555,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47137,'NCBI Gene PubMed Count',NULL,18555,NULL,NULL,NULL,3,NULL,NULL,NULL),(47138,'NCBI Gene Summary',NULL,18556,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47139,'NCBI Gene PubMed Count',NULL,18556,NULL,NULL,NULL,3,NULL,NULL,NULL),(47140,'NCBI Gene Summary',NULL,18557,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47141,'NCBI Gene PubMed Count',NULL,18557,NULL,NULL,NULL,8,NULL,NULL,NULL),(47142,'NCBI Gene Summary',NULL,18558,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(47143,'NCBI Gene PubMed Count',NULL,18558,NULL,NULL,NULL,6,NULL,NULL,NULL),(47144,'NCBI Gene Summary',NULL,18559,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(47145,'NCBI Gene PubMed Count',NULL,18559,NULL,NULL,NULL,6,NULL,NULL,NULL),(47146,'NCBI Gene Summary',NULL,18560,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47147,'NCBI Gene PubMed Count',NULL,18560,NULL,NULL,NULL,5,NULL,NULL,NULL),(47148,'NCBI Gene Summary',NULL,18561,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47149,'NCBI Gene PubMed Count',NULL,18561,NULL,NULL,NULL,5,NULL,NULL,NULL),(47150,'NCBI Gene Summary',NULL,18562,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47151,'NCBI Gene PubMed Count',NULL,18562,NULL,NULL,NULL,6,NULL,NULL,NULL),(47152,'NCBI Gene Summary',NULL,18563,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47153,'NCBI Gene PubMed Count',NULL,18563,NULL,NULL,NULL,3,NULL,NULL,NULL),(47154,'NCBI Gene Summary',NULL,18564,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47155,'NCBI Gene PubMed Count',NULL,18564,NULL,NULL,NULL,2,NULL,NULL,NULL),(47156,'NCBI Gene Summary',NULL,18565,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47157,'NCBI Gene PubMed Count',NULL,18565,NULL,NULL,NULL,4,NULL,NULL,NULL),(47158,'NCBI Gene Summary',NULL,18566,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47159,'NCBI Gene PubMed Count',NULL,18566,NULL,NULL,NULL,3,NULL,NULL,NULL),(47160,'NCBI Gene Summary',NULL,18567,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47161,'NCBI Gene PubMed Count',NULL,18567,NULL,NULL,NULL,4,NULL,NULL,NULL),(47162,'NCBI Gene Summary',NULL,18568,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47163,'NCBI Gene PubMed Count',NULL,18568,NULL,NULL,NULL,2,NULL,NULL,NULL),(47164,'NCBI Gene Summary',NULL,18569,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47165,'NCBI Gene PubMed Count',NULL,18569,NULL,NULL,NULL,3,NULL,NULL,NULL),(47166,'NCBI Gene PubMed Count',NULL,18570,NULL,NULL,NULL,0,NULL,NULL,NULL),(47167,'NCBI Gene Summary',NULL,18571,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47168,'NCBI Gene PubMed Count',NULL,18571,NULL,NULL,NULL,2,NULL,NULL,NULL),(47169,'NCBI Gene Summary',NULL,18572,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47170,'NCBI Gene PubMed Count',NULL,18572,NULL,NULL,NULL,3,NULL,NULL,NULL),(47171,'NCBI Gene Summary',NULL,18573,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47172,'NCBI Gene PubMed Count',NULL,18573,NULL,NULL,NULL,4,NULL,NULL,NULL),(47173,'NCBI Gene Summary',NULL,18574,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(47174,'NCBI Gene PubMed Count',NULL,18574,NULL,NULL,NULL,6,NULL,NULL,NULL),(47175,'NCBI Gene Summary',NULL,18575,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47176,'NCBI Gene PubMed Count',NULL,18575,NULL,NULL,NULL,4,NULL,NULL,NULL),(47177,'NCBI Gene Summary',NULL,18576,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47178,'NCBI Gene PubMed Count',NULL,18576,NULL,NULL,NULL,4,NULL,NULL,NULL),(47179,'NCBI Gene Summary',NULL,18577,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47180,'NCBI Gene PubMed Count',NULL,18577,NULL,NULL,NULL,4,NULL,NULL,NULL),(47181,'NCBI Gene Summary',NULL,18578,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47182,'NCBI Gene PubMed Count',NULL,18578,NULL,NULL,NULL,2,NULL,NULL,NULL),(47183,'NCBI Gene Summary',NULL,18579,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47184,'NCBI Gene PubMed Count',NULL,18579,NULL,NULL,NULL,1,NULL,NULL,NULL),(47185,'NCBI Gene Summary',NULL,18580,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47186,'NCBI Gene PubMed Count',NULL,18580,NULL,NULL,NULL,3,NULL,NULL,NULL),(47187,'NCBI Gene Summary',NULL,18581,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(47188,'NCBI Gene PubMed Count',NULL,18581,NULL,NULL,NULL,4,NULL,NULL,NULL),(47189,'NCBI Gene Summary',NULL,18582,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47190,'NCBI Gene PubMed Count',NULL,18582,NULL,NULL,NULL,3,NULL,NULL,NULL),(47191,'NCBI Gene Summary',NULL,18583,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47192,'NCBI Gene PubMed Count',NULL,18583,NULL,NULL,NULL,3,NULL,NULL,NULL),(47193,'NCBI Gene Summary',NULL,18584,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47194,'NCBI Gene PubMed Count',NULL,18584,NULL,NULL,NULL,4,NULL,NULL,NULL),(47195,'NCBI Gene Summary',NULL,18585,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(47196,'NCBI Gene PubMed Count',NULL,18585,NULL,NULL,NULL,4,NULL,NULL,NULL),(47197,'NCBI Gene Summary',NULL,18586,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(47198,'NCBI Gene PubMed Count',NULL,18586,NULL,NULL,NULL,5,NULL,NULL,NULL),(47199,'NCBI Gene Summary',NULL,18587,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47200,'NCBI Gene PubMed Count',NULL,18587,NULL,NULL,NULL,6,NULL,NULL,NULL),(47201,'NCBI Gene Summary',NULL,18588,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47202,'NCBI Gene PubMed Count',NULL,18588,NULL,NULL,NULL,4,NULL,NULL,NULL),(47203,'NCBI Gene Summary',NULL,18589,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47204,'NCBI Gene PubMed Count',NULL,18589,NULL,NULL,NULL,4,NULL,NULL,NULL),(47205,'NCBI Gene Summary',NULL,18590,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47206,'NCBI Gene PubMed Count',NULL,18590,NULL,NULL,NULL,1,NULL,NULL,NULL),(47207,'NCBI Gene Summary',NULL,18591,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47208,'NCBI Gene PubMed Count',NULL,18591,NULL,NULL,NULL,3,NULL,NULL,NULL),(47209,'NCBI Gene Summary',NULL,18592,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47210,'NCBI Gene PubMed Count',NULL,18592,NULL,NULL,NULL,4,NULL,NULL,NULL),(47211,'NCBI Gene Summary',NULL,18593,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47212,'NCBI Gene PubMed Count',NULL,18593,NULL,NULL,NULL,4,NULL,NULL,NULL),(47213,'NCBI Gene Summary',NULL,18594,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47214,'NCBI Gene PubMed Count',NULL,18594,NULL,NULL,NULL,4,NULL,NULL,NULL),(47215,'NCBI Gene Summary',NULL,18595,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47216,'NCBI Gene PubMed Count',NULL,18595,NULL,NULL,NULL,5,NULL,NULL,NULL),(47217,'NCBI Gene Summary',NULL,18596,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(47218,'NCBI Gene PubMed Count',NULL,18596,NULL,NULL,NULL,4,NULL,NULL,NULL),(47219,'NCBI Gene Summary',NULL,18597,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47220,'NCBI Gene PubMed Count',NULL,18597,NULL,NULL,NULL,3,NULL,NULL,NULL),(47221,'NCBI Gene Summary',NULL,18598,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47222,'NCBI Gene PubMed Count',NULL,18598,NULL,NULL,NULL,3,NULL,NULL,NULL),(47223,'NCBI Gene Summary',NULL,18599,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47224,'NCBI Gene PubMed Count',NULL,18599,NULL,NULL,NULL,10,NULL,NULL,NULL),(47225,'NCBI Gene Summary',NULL,18600,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47226,'NCBI Gene PubMed Count',NULL,18600,NULL,NULL,NULL,4,NULL,NULL,NULL),(47227,'NCBI Gene Summary',NULL,18601,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47228,'NCBI Gene PubMed Count',NULL,18601,NULL,NULL,NULL,4,NULL,NULL,NULL),(47229,'NCBI Gene Summary',NULL,18602,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47230,'NCBI Gene PubMed Count',NULL,18602,NULL,NULL,NULL,6,NULL,NULL,NULL),(47231,'NCBI Gene Summary',NULL,18603,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47232,'NCBI Gene PubMed Count',NULL,18603,NULL,NULL,NULL,4,NULL,NULL,NULL),(47233,'NCBI Gene Summary',NULL,18604,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47234,'NCBI Gene PubMed Count',NULL,18604,NULL,NULL,NULL,5,NULL,NULL,NULL),(47235,'NCBI Gene Summary',NULL,18605,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(47236,'NCBI Gene PubMed Count',NULL,18605,NULL,NULL,NULL,1,NULL,NULL,NULL),(47237,'NCBI Gene Summary',NULL,18606,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47238,'NCBI Gene PubMed Count',NULL,18606,NULL,NULL,NULL,3,NULL,NULL,NULL),(47239,'NCBI Gene Summary',NULL,18607,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47240,'NCBI Gene PubMed Count',NULL,18607,NULL,NULL,NULL,4,NULL,NULL,NULL),(47241,'NCBI Gene Summary',NULL,18608,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47242,'NCBI Gene PubMed Count',NULL,18608,NULL,NULL,NULL,5,NULL,NULL,NULL),(47243,'NCBI Gene Summary',NULL,18609,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47244,'NCBI Gene PubMed Count',NULL,18609,NULL,NULL,NULL,2,NULL,NULL,NULL),(47245,'NCBI Gene Summary',NULL,18610,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47246,'NCBI Gene PubMed Count',NULL,18610,NULL,NULL,NULL,4,NULL,NULL,NULL),(47247,'NCBI Gene Summary',NULL,18611,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(47248,'NCBI Gene PubMed Count',NULL,18611,NULL,NULL,NULL,4,NULL,NULL,NULL),(47249,'NCBI Gene Summary',NULL,18612,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47250,'NCBI Gene PubMed Count',NULL,18612,NULL,NULL,NULL,2,NULL,NULL,NULL),(47251,'NCBI Gene Summary',NULL,18613,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47252,'NCBI Gene PubMed Count',NULL,18613,NULL,NULL,NULL,3,NULL,NULL,NULL),(47253,'NCBI Gene Summary',NULL,18614,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47254,'NCBI Gene PubMed Count',NULL,18614,NULL,NULL,NULL,5,NULL,NULL,NULL),(47255,'NCBI Gene Summary',NULL,18615,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47256,'NCBI Gene PubMed Count',NULL,18615,NULL,NULL,NULL,4,NULL,NULL,NULL),(47257,'NCBI Gene Summary',NULL,18616,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47258,'NCBI Gene PubMed Count',NULL,18616,NULL,NULL,NULL,4,NULL,NULL,NULL),(47259,'NCBI Gene Summary',NULL,18617,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47260,'NCBI Gene PubMed Count',NULL,18617,NULL,NULL,NULL,3,NULL,NULL,NULL),(47261,'NCBI Gene Summary',NULL,18618,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47262,'NCBI Gene PubMed Count',NULL,18618,NULL,NULL,NULL,1,NULL,NULL,NULL),(47263,'NCBI Gene Summary',NULL,18619,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47264,'NCBI Gene PubMed Count',NULL,18619,NULL,NULL,NULL,4,NULL,NULL,NULL),(47265,'NCBI Gene Summary',NULL,18620,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47266,'NCBI Gene PubMed Count',NULL,18620,NULL,NULL,NULL,7,NULL,NULL,NULL),(47267,'NCBI Gene Summary',NULL,18621,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47268,'NCBI Gene PubMed Count',NULL,18621,NULL,NULL,NULL,2,NULL,NULL,NULL),(47269,'NCBI Gene Summary',NULL,18622,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47270,'NCBI Gene PubMed Count',NULL,18622,NULL,NULL,NULL,3,NULL,NULL,NULL),(47271,'NCBI Gene Summary',NULL,18623,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47272,'NCBI Gene PubMed Count',NULL,18623,NULL,NULL,NULL,10,NULL,NULL,NULL),(47273,'NCBI Gene Summary',NULL,18624,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47274,'NCBI Gene PubMed Count',NULL,18624,NULL,NULL,NULL,3,NULL,NULL,NULL),(47275,'NCBI Gene Summary',NULL,18625,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47276,'NCBI Gene PubMed Count',NULL,18625,NULL,NULL,NULL,2,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (47277,'NCBI Gene Summary',NULL,18626,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47278,'NCBI Gene PubMed Count',NULL,18626,NULL,NULL,NULL,6,NULL,NULL,NULL),(47279,'NCBI Gene Summary',NULL,18627,NULL,'This gene encodes a hypothalamic neuropeptide precursor protein that gives rise to two mature neuropeptides, orexin A and orexin B, by proteolytic processing. Orexin A and orexin B, which bind to orphan G-protein coupled receptors HCRTR1 and HCRTR2, function in the regulation of sleep and arousal. This neuropeptide arrangement may also play a role in feeding behavior, metabolism, and homeostasis. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(47280,'NCBI Gene PubMed Count',NULL,18627,NULL,NULL,NULL,122,NULL,NULL,NULL),(47281,'NCBI Gene Summary',NULL,18628,NULL,'This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47282,'NCBI Gene PubMed Count',NULL,18628,NULL,NULL,NULL,43,NULL,NULL,NULL),(47283,'NCBI Gene Summary',NULL,18629,NULL,'The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(47284,'NCBI Gene PubMed Count',NULL,18629,NULL,NULL,NULL,28,NULL,NULL,NULL),(47285,'NCBI Gene Summary',NULL,18630,NULL,'This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(47286,'NCBI Gene PubMed Count',NULL,18630,NULL,NULL,NULL,16,NULL,NULL,NULL),(47287,'NCBI Gene Summary',NULL,18631,NULL,'This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47288,'NCBI Gene PubMed Count',NULL,18631,NULL,NULL,NULL,17,NULL,NULL,NULL),(47289,'NCBI Gene Summary',NULL,18632,NULL,'This gene encodes a member of the type I cytokine receptor family. The encoded protein heterodimerizes with interleukin 6 signal transducer to form the type II oncostatin M receptor and with interleukin 31 receptor A to form the interleukin 31 receptor, and thus transduces oncostatin M and interleukin 31 induced signaling events. Mutations in this gene have been associated with familial primary localized cutaneous amyloidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(47290,'NCBI Gene PubMed Count',NULL,18632,NULL,NULL,NULL,58,NULL,NULL,NULL),(47291,'NCBI Gene PubMed Count',NULL,18633,NULL,NULL,NULL,6,NULL,NULL,NULL),(47292,'NCBI Gene Summary',NULL,18634,NULL,'This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(47293,'NCBI Gene PubMed Count',NULL,18634,NULL,NULL,NULL,27,NULL,NULL,NULL),(47294,'NCBI Gene Summary',NULL,18635,NULL,'This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(47295,'NCBI Gene PubMed Count',NULL,18635,NULL,NULL,NULL,29,NULL,NULL,NULL),(47296,'NCBI Gene PubMed Count',NULL,18636,NULL,NULL,NULL,27,NULL,NULL,NULL),(47297,'NCBI Gene Summary',NULL,18637,NULL,'Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(47298,'NCBI Gene PubMed Count',NULL,18637,NULL,NULL,NULL,9,NULL,NULL,NULL),(47299,'NCBI Gene Summary',NULL,18638,NULL,'The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(47300,'NCBI Gene PubMed Count',NULL,18638,NULL,NULL,NULL,937,NULL,NULL,NULL),(47301,'NCBI Gene PubMed Count',NULL,18639,NULL,NULL,NULL,3,NULL,NULL,NULL),(47302,'NCBI Gene Summary',NULL,18640,NULL,'Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47303,'NCBI Gene PubMed Count',NULL,18640,NULL,NULL,NULL,49,NULL,NULL,NULL),(47304,'NCBI Gene Summary',NULL,18641,NULL,'The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(47305,'NCBI Gene PubMed Count',NULL,18641,NULL,NULL,NULL,6,NULL,NULL,NULL),(47306,'NCBI Gene Summary',NULL,18642,NULL,'This gene encodes a transmembrane protein which belongs to the otopetrin domain protein family and is required for the formation of otoconia and otoliths, calcium carbonate biominerals within the inner ear of mammals that are required for the detection of linear acceleration and gravity. This gene modulates purinergic control of intracellular calcium in vestibular supporting cells. Naturally occurring mutations in the orthologous mouse gene are associated with nonsyndromic otoconia agenesis and a consequent balance defect. The orthologous mouse gene is also induced in white adipose tissue during obesity. The encoded protein is a component of a counterinflammatory pathway that attenuates obesity-induced adipose tissue inflammation and plays an adaptive role in maintaining metabolic homeostasis in obesity. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(47307,'NCBI Gene PubMed Count',NULL,18642,NULL,NULL,NULL,6,NULL,NULL,NULL),(47308,'NCBI Gene Summary',NULL,18643,NULL,'The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(47309,'NCBI Gene PubMed Count',NULL,18643,NULL,NULL,NULL,20,NULL,NULL,NULL),(47310,'NCBI Gene Summary',NULL,18644,NULL,'This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(47311,'NCBI Gene PubMed Count',NULL,18644,NULL,NULL,NULL,16,NULL,NULL,NULL),(47312,'NCBI Gene Summary',NULL,18645,NULL,'The product of this gene is a member of the OTU (ovarian tumor) superfamily of predicted cysteine proteases. The encoded protein is a highly specific ubiquitin iso-peptidase, and cleaves ubiquitin from branched poly-ubiquitin chains but not from ubiquitinated substrates. It interacts with another ubiquitin protease and an E3 ubiquitin ligase that inhibits cytokine gene transcription in the immune system. It is proposed to function in specific ubiquitin-dependent pathways, possibly by providing an editing function for polyubiquitin chain growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47313,'NCBI Gene PubMed Count',NULL,18645,NULL,NULL,NULL,46,NULL,NULL,NULL),(47314,'NCBI Gene PubMed Count',NULL,18646,NULL,NULL,NULL,2,NULL,NULL,NULL),(47315,'NCBI Gene PubMed Count',NULL,18647,NULL,NULL,NULL,12,NULL,NULL,NULL),(47316,'NCBI Gene Summary',NULL,18648,NULL,'This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(47317,'NCBI Gene PubMed Count',NULL,18648,NULL,NULL,NULL,22,NULL,NULL,NULL),(47318,'NCBI Gene Summary',NULL,18649,NULL,'This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembly of the cytochrome c oxidase and ATPase complexes of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(47319,'NCBI Gene PubMed Count',NULL,18649,NULL,NULL,NULL,16,NULL,NULL,NULL),(47320,'NCBI Gene Summary',NULL,18650,NULL,'This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(47321,'NCBI Gene PubMed Count',NULL,18650,NULL,NULL,NULL,19,NULL,NULL,NULL),(47322,'NCBI Gene PubMed Count',NULL,18651,NULL,NULL,NULL,5,NULL,NULL,NULL),(47323,'NCBI Gene Summary',NULL,18652,NULL,'The product of this gene belongs to the Ser/Thr protein kinase family of proteins. It regulates downstream kinases in response to environmental stress, and may play a role in regulating the actin cytoskeleton. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47324,'NCBI Gene PubMed Count',NULL,18652,NULL,NULL,NULL,48,NULL,NULL,NULL),(47325,'NCBI Gene Summary',NULL,18653,NULL,'The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities, and it also exhibits RNA-binding activity. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 1, has been identified. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(47326,'NCBI Gene PubMed Count',NULL,18653,NULL,NULL,NULL,29,NULL,NULL,NULL),(47327,'NCBI Gene PubMed Count',NULL,18654,NULL,NULL,NULL,22,NULL,NULL,NULL),(47328,'NCBI Gene Summary',NULL,18655,NULL,'This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson\'s disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(47329,'NCBI Gene PubMed Count',NULL,18655,NULL,NULL,NULL,40,NULL,NULL,NULL),(47330,'NCBI Gene Summary',NULL,18656,NULL,'NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(47331,'NCBI Gene PubMed Count',NULL,18656,NULL,NULL,NULL,18,NULL,NULL,NULL),(47332,'NCBI Gene PubMed Count',NULL,18657,NULL,NULL,NULL,25,NULL,NULL,NULL),(47333,'NCBI Gene PubMed Count',NULL,18658,NULL,NULL,NULL,8,NULL,NULL,NULL),(47334,'NCBI Gene Summary',NULL,18659,NULL,'This gene encodes a G protein-coupled receptor (GPCR) that belongs to the oxoglutarate receptor family within the GPCR superfamily. The encoded protein is activated by the citric acid intermediate, oxoglutarate, as well as several cysteinyl leukotrienes, including leukotrienes E4, C4 and D4, which are implicated in many inflammatory disorders. In mice, a knock-out of this gene leads to middle ear inflammation, changes in the mucosal epithelium, and an increase in fluid behind the eardrum, and is associated with hearing loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(47335,'NCBI Gene PubMed Count',NULL,18659,NULL,NULL,NULL,15,NULL,NULL,NULL),(47336,'NCBI Gene Summary',NULL,18660,NULL,'This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(47337,'NCBI Gene PubMed Count',NULL,18660,NULL,NULL,NULL,92,NULL,NULL,NULL),(47338,'NCBI Gene Summary',NULL,18661,NULL,'This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(47339,'NCBI Gene PubMed Count',NULL,18661,NULL,NULL,NULL,10,NULL,NULL,NULL),(47340,'NCBI Gene Summary',NULL,18662,NULL,'This gene encodes a protein with limited similarity to L-amino acid oxidase which contains the conserved amino acids thought to be involved in catalysis and binding of flavin adenine dinucleotide (FAD) cofactor. The expression of this gene can be induced by interleukin 4 in B cells, however, expression of transcripts containing the first two exons of the upstream gene is found in other cell types. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(47341,'NCBI Gene PubMed Count',NULL,18662,NULL,NULL,NULL,18,NULL,NULL,NULL),(47342,'NCBI Gene PubMed Count',NULL,18663,NULL,NULL,NULL,18,NULL,NULL,NULL),(47343,'NCBI Gene Summary',NULL,18664,NULL,'The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47344,'NCBI Gene PubMed Count',NULL,18664,NULL,NULL,NULL,295,NULL,NULL,NULL),(47345,'NCBI Gene PubMed Count',NULL,18665,NULL,NULL,NULL,5,NULL,NULL,NULL),(47346,'NCBI Gene Summary',NULL,18666,NULL,'This locus appears to be a pseudogene related to DKFZp434K191, which is of unknown function. This pseudogene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47347,'NCBI Gene PubMed Count',NULL,18666,NULL,NULL,NULL,3,NULL,NULL,NULL),(47348,'NCBI Gene PubMed Count',NULL,18667,NULL,NULL,NULL,3,NULL,NULL,NULL),(47349,'NCBI Gene PubMed Count',NULL,18668,NULL,NULL,NULL,10,NULL,NULL,NULL),(47350,'NCBI Gene PubMed Count',NULL,18669,NULL,NULL,NULL,2,NULL,NULL,NULL),(47351,'NCBI Gene PubMed Count',NULL,18670,NULL,NULL,NULL,9,NULL,NULL,NULL),(47352,'NCBI Gene PubMed Count',NULL,18671,NULL,NULL,NULL,16,NULL,NULL,NULL),(47353,'NCBI Gene Summary',NULL,18672,NULL,'This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47354,'NCBI Gene PubMed Count',NULL,18672,NULL,NULL,NULL,27,NULL,NULL,NULL),(47355,'NCBI Gene Summary',NULL,18673,NULL,'The protein encoded by this gene belongs to the family of G-protein coupled receptors that are preferentially activated by adenosine and uridine nucleotides. There is a pseudogene for this gene nearby on chromosome X. Multiple alternatively spliced transcripts have been observed. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(47356,'NCBI Gene PubMed Count',NULL,18673,NULL,NULL,NULL,13,NULL,NULL,NULL),(47357,'NCBI Gene Summary',NULL,18674,NULL,'The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47358,'NCBI Gene PubMed Count',NULL,18674,NULL,NULL,NULL,33,NULL,NULL,NULL),(47359,'NCBI Gene Summary',NULL,18675,NULL,'The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is activated by ADP. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(47360,'NCBI Gene PubMed Count',NULL,18675,NULL,NULL,NULL,13,NULL,NULL,NULL),(47361,'NCBI Gene Summary',NULL,18676,NULL,'The product of this gene belongs to the family of G-protein coupled receptors, which contains several receptor subtypes with different pharmacological selectivity for various adenosine and uridine nucleotides. This receptor is a P2Y purinergic receptor for UDP-glucose and other UDP-sugars coupled to G-proteins. It has been implicated in extending the known immune system functions of P2Y receptors by participating in the regulation of the stem cell compartment, and it may also play a role in neuroimmune function. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47362,'NCBI Gene PubMed Count',NULL,18676,NULL,NULL,NULL,38,NULL,NULL,NULL),(47363,'NCBI Gene Summary',NULL,18677,NULL,'The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is responsive to uridine nucleotides, partially responsive to ATP, and not responsive to ADP. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47364,'NCBI Gene PubMed Count',NULL,18677,NULL,NULL,NULL,26,NULL,NULL,NULL),(47365,'NCBI Gene Summary',NULL,18678,NULL,'Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(47366,'NCBI Gene PubMed Count',NULL,18678,NULL,NULL,NULL,109,NULL,NULL,NULL),(47367,'NCBI Gene Summary',NULL,18679,NULL,'The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(47368,'NCBI Gene PubMed Count',NULL,18679,NULL,NULL,NULL,11,NULL,NULL,NULL),(47369,'NCBI Gene Summary',NULL,18680,NULL,'This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47370,'NCBI Gene PubMed Count',NULL,18680,NULL,NULL,NULL,54,NULL,NULL,NULL),(47371,'NCBI Gene Summary',NULL,18681,NULL,'This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47372,'NCBI Gene PubMed Count',NULL,18681,NULL,NULL,NULL,26,NULL,NULL,NULL),(47373,'NCBI Gene PubMed Count',NULL,18682,NULL,NULL,NULL,20,NULL,NULL,NULL),(47374,'NCBI Gene Summary',NULL,18683,NULL,'This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3\' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5\' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(47375,'NCBI Gene PubMed Count',NULL,18683,NULL,NULL,NULL,95,NULL,NULL,NULL),(47376,'NCBI Gene Summary',NULL,18684,NULL,'The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(47377,'NCBI Gene PubMed Count',NULL,18684,NULL,NULL,NULL,263,NULL,NULL,NULL),(47378,'NCBI Gene PubMed Count',NULL,18685,NULL,NULL,NULL,7,NULL,NULL,NULL),(47379,'NCBI Gene Summary',NULL,18686,NULL,'This gene encodes a nuclear distribution protein that plays an essential role in mitosis and cytokinesis. The encoded protein is involved in spindle formation during mitosis and in microtubule organization during cytokinesis. Pseudogenes of this gene are found on chromosome 2. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(47380,'NCBI Gene PubMed Count',NULL,18686,NULL,NULL,NULL,37,NULL,NULL,NULL),(47381,'NCBI Gene Summary',NULL,18687,NULL,'The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(47382,'NCBI Gene PubMed Count',NULL,18687,NULL,NULL,NULL,6,NULL,NULL,NULL),(47383,'NCBI Gene Summary',NULL,18688,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47384,'NCBI Gene PubMed Count',NULL,18688,NULL,NULL,NULL,8,NULL,NULL,NULL),(47385,'NCBI Gene Summary',NULL,18689,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(47386,'NCBI Gene PubMed Count',NULL,18689,NULL,NULL,NULL,4,NULL,NULL,NULL),(47387,'NCBI Gene Summary',NULL,18690,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(47388,'NCBI Gene PubMed Count',NULL,18690,NULL,NULL,NULL,2,NULL,NULL,NULL),(47389,'NCBI Gene Summary',NULL,18691,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47390,'NCBI Gene PubMed Count',NULL,18691,NULL,NULL,NULL,3,NULL,NULL,NULL),(47391,'NCBI Gene Summary',NULL,18692,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(47392,'NCBI Gene PubMed Count',NULL,18692,NULL,NULL,NULL,9,NULL,NULL,NULL),(47393,'NCBI Gene Summary',NULL,18693,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47394,'NCBI Gene PubMed Count',NULL,18693,NULL,NULL,NULL,3,NULL,NULL,NULL),(47395,'NCBI Gene Summary',NULL,18694,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47396,'NCBI Gene PubMed Count',NULL,18694,NULL,NULL,NULL,6,NULL,NULL,NULL),(47397,'NCBI Gene Summary',NULL,18695,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47398,'NCBI Gene PubMed Count',NULL,18695,NULL,NULL,NULL,3,NULL,NULL,NULL),(47399,'NCBI Gene Summary',NULL,18696,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47400,'NCBI Gene PubMed Count',NULL,18696,NULL,NULL,NULL,2,NULL,NULL,NULL),(47401,'NCBI Gene Summary',NULL,18697,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47402,'NCBI Gene PubMed Count',NULL,18697,NULL,NULL,NULL,5,NULL,NULL,NULL),(47403,'NCBI Gene Summary',NULL,18698,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47404,'NCBI Gene PubMed Count',NULL,18698,NULL,NULL,NULL,8,NULL,NULL,NULL),(47405,'NCBI Gene Summary',NULL,18699,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47406,'NCBI Gene PubMed Count',NULL,18699,NULL,NULL,NULL,4,NULL,NULL,NULL),(47407,'NCBI Gene Summary',NULL,18700,NULL,'The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(47408,'NCBI Gene PubMed Count',NULL,18700,NULL,NULL,NULL,8,NULL,NULL,NULL),(47409,'NCBI Gene Summary',NULL,18701,NULL,'The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(47410,'NCBI Gene PubMed Count',NULL,18701,NULL,NULL,NULL,14,NULL,NULL,NULL),(47411,'NCBI Gene Summary',NULL,18702,NULL,'The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(47412,'NCBI Gene PubMed Count',NULL,18702,NULL,NULL,NULL,14,NULL,NULL,NULL),(47413,'NCBI Gene Summary',NULL,18703,NULL,' Olfactory marker protein is uniquely associated with the mature olfactory receptor neurons in many vertebrate species from fish to man.  The OMP gene structure and protein sequence are highly conserved between mouse, rat and human.  Results of the mouse knockout studies show that OMP-null mice are compromised in their ability to respond to odor stimuli, and that OMP represents a novel modulatory component of the odor detection/signal transduction cascade. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47414,'NCBI Gene PubMed Count',NULL,18703,NULL,NULL,NULL,12,NULL,NULL,NULL),(47415,'NCBI Gene Summary',NULL,18704,NULL,'Oncomodulin is a high-affinity calcium ion-binding protein. It belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. Oncomodulin is an oncodevelopmental protein found in early embryonic cells in the placenta and also in tumors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47416,'NCBI Gene PubMed Count',NULL,18704,NULL,NULL,NULL,11,NULL,NULL,NULL),(47417,'NCBI Gene Summary',NULL,18705,NULL,'This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47418,'NCBI Gene PubMed Count',NULL,18705,NULL,NULL,NULL,15,NULL,NULL,NULL),(47419,'NCBI Gene PubMed Count',NULL,18707,NULL,NULL,NULL,11,NULL,NULL,NULL),(47420,'NCBI Gene Summary',NULL,18708,NULL,'This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily of proteins. The encoded preprotein is proteolytically processed to generate the mature protein. This protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-cell adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(47421,'NCBI Gene PubMed Count',NULL,18708,NULL,NULL,NULL,44,NULL,NULL,NULL),(47422,'NCBI Gene Summary',NULL,18709,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(47423,'NCBI Gene PubMed Count',NULL,18709,NULL,NULL,NULL,90,NULL,NULL,NULL),(47424,'NCBI Gene Summary',NULL,18710,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(47425,'NCBI Gene PubMed Count',NULL,18710,NULL,NULL,NULL,67,NULL,NULL,NULL),(47426,'NCBI Gene Summary',NULL,18711,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the beta subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three beta and three alpha subunits combine to form a heterohexameric ring. Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47427,'NCBI Gene PubMed Count',NULL,18711,NULL,NULL,NULL,52,NULL,NULL,NULL),(47428,'NCBI Gene Summary',NULL,18712,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(47429,'NCBI Gene PubMed Count',NULL,18712,NULL,NULL,NULL,105,NULL,NULL,NULL),(47430,'NCBI Gene PubMed Count',NULL,18713,NULL,NULL,NULL,13,NULL,NULL,NULL),(47431,'NCBI Gene Summary',NULL,18714,NULL,'The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47432,'NCBI Gene PubMed Count',NULL,18714,NULL,NULL,NULL,47,NULL,NULL,NULL),(47433,'NCBI Gene PubMed Count',NULL,18715,NULL,NULL,NULL,7,NULL,NULL,NULL),(47434,'NCBI Gene Summary',NULL,18716,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47435,'NCBI Gene PubMed Count',NULL,18716,NULL,NULL,NULL,9,NULL,NULL,NULL),(47436,'NCBI Gene Summary',NULL,18717,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47437,'NCBI Gene PubMed Count',NULL,18717,NULL,NULL,NULL,7,NULL,NULL,NULL),(47438,'NCBI Gene Summary',NULL,18718,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47439,'NCBI Gene PubMed Count',NULL,18718,NULL,NULL,NULL,11,NULL,NULL,NULL),(47440,'NCBI Gene Summary',NULL,18719,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47441,'NCBI Gene PubMed Count',NULL,18719,NULL,NULL,NULL,5,NULL,NULL,NULL),(47442,'NCBI Gene Summary',NULL,18720,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47443,'NCBI Gene PubMed Count',NULL,18720,NULL,NULL,NULL,5,NULL,NULL,NULL),(47444,'NCBI Gene Summary',NULL,18721,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47445,'NCBI Gene PubMed Count',NULL,18721,NULL,NULL,NULL,4,NULL,NULL,NULL),(47446,'NCBI Gene Summary',NULL,18722,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(47447,'NCBI Gene PubMed Count',NULL,18722,NULL,NULL,NULL,6,NULL,NULL,NULL),(47448,'NCBI Gene Summary',NULL,18723,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47449,'NCBI Gene PubMed Count',NULL,18723,NULL,NULL,NULL,7,NULL,NULL,NULL),(47450,'NCBI Gene Summary',NULL,18724,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47451,'NCBI Gene PubMed Count',NULL,18724,NULL,NULL,NULL,4,NULL,NULL,NULL),(47452,'NCBI Gene Summary',NULL,18725,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(47453,'NCBI Gene PubMed Count',NULL,18725,NULL,NULL,NULL,6,NULL,NULL,NULL),(47454,'NCBI Gene Summary',NULL,18726,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47455,'NCBI Gene PubMed Count',NULL,18726,NULL,NULL,NULL,6,NULL,NULL,NULL),(47456,'NCBI Gene Summary',NULL,18727,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47457,'NCBI Gene PubMed Count',NULL,18727,NULL,NULL,NULL,6,NULL,NULL,NULL),(47458,'NCBI Gene Summary',NULL,18728,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47459,'NCBI Gene PubMed Count',NULL,18728,NULL,NULL,NULL,3,NULL,NULL,NULL),(47460,'NCBI Gene Summary',NULL,18729,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47461,'NCBI Gene PubMed Count',NULL,18729,NULL,NULL,NULL,5,NULL,NULL,NULL),(47462,'NCBI Gene Summary',NULL,18730,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47463,'NCBI Gene PubMed Count',NULL,18730,NULL,NULL,NULL,3,NULL,NULL,NULL),(47464,'NCBI Gene Summary',NULL,18731,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47465,'NCBI Gene PubMed Count',NULL,18731,NULL,NULL,NULL,6,NULL,NULL,NULL),(47466,'NCBI Gene Summary',NULL,18732,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47467,'NCBI Gene PubMed Count',NULL,18732,NULL,NULL,NULL,5,NULL,NULL,NULL),(47468,'NCBI Gene Summary',NULL,18733,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47469,'NCBI Gene PubMed Count',NULL,18733,NULL,NULL,NULL,5,NULL,NULL,NULL),(47470,'NCBI Gene Summary',NULL,18734,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47471,'NCBI Gene PubMed Count',NULL,18734,NULL,NULL,NULL,5,NULL,NULL,NULL),(47472,'NCBI Gene Summary',NULL,18735,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47473,'NCBI Gene PubMed Count',NULL,18735,NULL,NULL,NULL,2,NULL,NULL,NULL),(47474,'NCBI Gene Summary',NULL,18736,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47475,'NCBI Gene PubMed Count',NULL,18736,NULL,NULL,NULL,6,NULL,NULL,NULL),(47476,'NCBI Gene Summary',NULL,18737,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47477,'NCBI Gene PubMed Count',NULL,18737,NULL,NULL,NULL,5,NULL,NULL,NULL),(47478,'NCBI Gene Summary',NULL,18738,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47479,'NCBI Gene PubMed Count',NULL,18738,NULL,NULL,NULL,2,NULL,NULL,NULL),(47480,'NCBI Gene Summary',NULL,18739,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47481,'NCBI Gene PubMed Count',NULL,18739,NULL,NULL,NULL,5,NULL,NULL,NULL),(47482,'NCBI Gene Summary',NULL,18740,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47483,'NCBI Gene PubMed Count',NULL,18740,NULL,NULL,NULL,4,NULL,NULL,NULL),(47484,'NCBI Gene Summary',NULL,18741,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47485,'NCBI Gene PubMed Count',NULL,18741,NULL,NULL,NULL,1,NULL,NULL,NULL),(47486,'NCBI Gene Summary',NULL,18742,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47487,'NCBI Gene PubMed Count',NULL,18742,NULL,NULL,NULL,4,NULL,NULL,NULL),(47488,'NCBI Gene Summary',NULL,18743,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47489,'NCBI Gene PubMed Count',NULL,18743,NULL,NULL,NULL,5,NULL,NULL,NULL),(47490,'NCBI Gene Summary',NULL,18744,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47491,'NCBI Gene PubMed Count',NULL,18744,NULL,NULL,NULL,3,NULL,NULL,NULL),(47492,'NCBI Gene Summary',NULL,18745,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47493,'NCBI Gene PubMed Count',NULL,18745,NULL,NULL,NULL,10,NULL,NULL,NULL),(47494,'NCBI Gene Summary',NULL,18746,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47495,'NCBI Gene PubMed Count',NULL,18746,NULL,NULL,NULL,3,NULL,NULL,NULL),(47496,'NCBI Gene Summary',NULL,18747,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(47497,'NCBI Gene PubMed Count',NULL,18747,NULL,NULL,NULL,3,NULL,NULL,NULL),(47498,'NCBI Gene Summary',NULL,18748,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47499,'NCBI Gene PubMed Count',NULL,18748,NULL,NULL,NULL,3,NULL,NULL,NULL),(47500,'NCBI Gene Summary',NULL,18749,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47501,'NCBI Gene PubMed Count',NULL,18749,NULL,NULL,NULL,4,NULL,NULL,NULL),(47502,'NCBI Gene Summary',NULL,18750,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47503,'NCBI Gene PubMed Count',NULL,18750,NULL,NULL,NULL,3,NULL,NULL,NULL),(47504,'NCBI Gene Summary',NULL,18751,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47505,'NCBI Gene PubMed Count',NULL,18751,NULL,NULL,NULL,4,NULL,NULL,NULL),(47506,'NCBI Gene Summary',NULL,18752,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47507,'NCBI Gene PubMed Count',NULL,18752,NULL,NULL,NULL,3,NULL,NULL,NULL),(47508,'NCBI Gene Summary',NULL,18753,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47509,'NCBI Gene PubMed Count',NULL,18753,NULL,NULL,NULL,5,NULL,NULL,NULL),(47510,'NCBI Gene Summary',NULL,18754,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47511,'NCBI Gene PubMed Count',NULL,18754,NULL,NULL,NULL,7,NULL,NULL,NULL),(47512,'NCBI Gene Summary',NULL,18755,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47513,'NCBI Gene PubMed Count',NULL,18755,NULL,NULL,NULL,7,NULL,NULL,NULL),(47514,'NCBI Gene Summary',NULL,18756,NULL,'The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3, -4, and -5. It also interacts with CDC45 and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. Alternatively spliced transcript variants have been found, one of which is a nonsense-mediated mRNA decay candidate. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(47515,'NCBI Gene PubMed Count',NULL,18756,NULL,NULL,NULL,63,NULL,NULL,NULL),(47516,'NCBI Gene Summary',NULL,18757,NULL,'The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47517,'NCBI Gene PubMed Count',NULL,18757,NULL,NULL,NULL,36,NULL,NULL,NULL),(47518,'NCBI Gene Summary',NULL,18758,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47519,'NCBI Gene PubMed Count',NULL,18758,NULL,NULL,NULL,4,NULL,NULL,NULL),(47520,'NCBI Gene Summary',NULL,18759,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47521,'NCBI Gene PubMed Count',NULL,18759,NULL,NULL,NULL,3,NULL,NULL,NULL),(47522,'NCBI Gene Summary',NULL,18760,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47523,'NCBI Gene PubMed Count',NULL,18760,NULL,NULL,NULL,3,NULL,NULL,NULL),(47524,'NCBI Gene Summary',NULL,18761,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47525,'NCBI Gene PubMed Count',NULL,18761,NULL,NULL,NULL,6,NULL,NULL,NULL),(47526,'NCBI Gene Summary',NULL,18762,NULL,'This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47527,'NCBI Gene PubMed Count',NULL,18762,NULL,NULL,NULL,16,NULL,NULL,NULL),(47528,'NCBI Gene Summary',NULL,18763,NULL,'This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(47529,'NCBI Gene PubMed Count',NULL,18763,NULL,NULL,NULL,17,NULL,NULL,NULL),(47530,'NCBI Gene PubMed Count',NULL,18764,NULL,NULL,NULL,6,NULL,NULL,NULL),(47531,'NCBI Gene PubMed Count',NULL,18765,NULL,NULL,NULL,15,NULL,NULL,NULL),(47532,'NCBI Gene Summary',NULL,18766,NULL,'This gene encodes one of the matrix-remodelling associated proteins. This protein contains 7 leucine-rich repeats and 12 immunoglobulin-like C2-type domains related to perlecan. This gene has a pseudogene on chromosome Y. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(47533,'NCBI Gene PubMed Count',NULL,18766,NULL,NULL,NULL,15,NULL,NULL,NULL),(47534,'NCBI Gene PubMed Count',NULL,18767,NULL,NULL,NULL,0,NULL,NULL,NULL),(47535,'NCBI Gene PubMed Count',NULL,18768,NULL,NULL,NULL,14,NULL,NULL,NULL),(47536,'NCBI Gene PubMed Count',NULL,18769,NULL,NULL,NULL,14,NULL,NULL,NULL),(47537,'NCBI Gene Summary',NULL,18770,NULL,'The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(47538,'NCBI Gene PubMed Count',NULL,18770,NULL,NULL,NULL,161,NULL,NULL,NULL),(47539,'NCBI Gene Summary',NULL,18771,NULL,'This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47540,'NCBI Gene PubMed Count',NULL,18771,NULL,NULL,NULL,16,NULL,NULL,NULL),(47541,'NCBI Gene Summary',NULL,18772,NULL,'Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(47542,'NCBI Gene PubMed Count',NULL,18772,NULL,NULL,NULL,44,NULL,NULL,NULL),(47543,'NCBI Gene Summary',NULL,18773,NULL,'Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47544,'NCBI Gene PubMed Count',NULL,18773,NULL,NULL,NULL,22,NULL,NULL,NULL),(47545,'NCBI Gene PubMed Count',NULL,18774,NULL,NULL,NULL,20,NULL,NULL,NULL),(47546,'NCBI Gene Summary',NULL,18775,NULL,'Myosins are molecular motors that use the energy from ATP hydrolysis to generate force on actin filaments. The protein encoded by this gene is an unconventional myosin that may be involved in the intracellular movement of membrane-enclosed compartments. There is evidence to suggest that mutations in this gene can result in hearing loss. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(47547,'NCBI Gene PubMed Count',NULL,18775,NULL,NULL,NULL,13,NULL,NULL,NULL),(47548,'NCBI Gene Summary',NULL,18776,NULL,'This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(47549,'NCBI Gene PubMed Count',NULL,18776,NULL,NULL,NULL,16,NULL,NULL,NULL),(47550,'NCBI Gene PubMed Count',NULL,18777,NULL,NULL,NULL,4,NULL,NULL,NULL),(47551,'NCBI Gene Summary',NULL,18778,NULL,'This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5\'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(47552,'NCBI Gene PubMed Count',NULL,18778,NULL,NULL,NULL,12,NULL,NULL,NULL),(47553,'NCBI Gene PubMed Count',NULL,18779,NULL,NULL,NULL,41,NULL,NULL,NULL),(47554,'NCBI Gene Summary',NULL,18780,NULL,'The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(47555,'NCBI Gene PubMed Count',NULL,18780,NULL,NULL,NULL,29,NULL,NULL,NULL),(47556,'NCBI Gene PubMed Count',NULL,18781,NULL,NULL,NULL,7,NULL,NULL,NULL),(47557,'NCBI Gene Summary',NULL,18782,NULL,'This gene encodes a protein containing a domain found in nucleoporins which are glycoproteins found in nuclear pore complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(47558,'NCBI Gene PubMed Count',NULL,18782,NULL,NULL,NULL,9,NULL,NULL,NULL),(47559,'NCBI Gene Summary',NULL,18783,NULL,'The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47560,'NCBI Gene PubMed Count',NULL,18783,NULL,NULL,NULL,58,NULL,NULL,NULL),(47561,'NCBI Gene Summary',NULL,18784,NULL,'This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin is a posterior pituitary hormone that is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). This gene is present in a gene cluster with the related gene oxytocin on chromosome 20. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(47562,'NCBI Gene PubMed Count',NULL,18784,NULL,NULL,NULL,262,NULL,NULL,NULL),(47563,'NCBI Gene Summary',NULL,18785,NULL,'MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47564,'NCBI Gene PubMed Count',NULL,18785,NULL,NULL,NULL,26,NULL,NULL,NULL),(47565,'NCBI Gene Summary',NULL,18786,NULL,'This gene encodes a member of the metallopeptidase M3 protein family that cleaves neurotensin at the Pro10-Tyr11 bond, leading to the formation of neurotensin(1-10) and neurotensin(11-13). The encoded protein is likely involved in the termination of the neurotensinergic signal in the central nervous system and in the gastrointestinal tract.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(47566,'NCBI Gene PubMed Count',NULL,18786,NULL,NULL,NULL,17,NULL,NULL,NULL),(47567,'NCBI Gene Summary',NULL,18787,NULL,'The erythroid-specific protein encoded by this gene, and the ubiquitous transcription factor CP2, form the stage selector protein (SSP) complex, which is involved in preferential expression of the gamma-globin genes in fetal erythroid cells. Alternate use of an in-frame upstream non-AUG (CUG) translation initiation codon, and a downstream AUG codon, results in two isoforms. While the long isoform (22 kDa) acts as an activator, the short isoform (14 kDa) has been shown to repress gamma-globin gene expression. This gene is located in an intron of the FBXL13 gene on the opposite strand. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47568,'NCBI Gene PubMed Count',NULL,18787,NULL,NULL,NULL,4,NULL,NULL,NULL),(47569,'NCBI Gene Summary',NULL,18788,NULL,'Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(47570,'NCBI Gene PubMed Count',NULL,18788,NULL,NULL,NULL,65,NULL,NULL,NULL),(47571,'NCBI Gene Summary',NULL,18789,NULL,'This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(47572,'NCBI Gene PubMed Count',NULL,18789,NULL,NULL,NULL,81,NULL,NULL,NULL),(47573,'NCBI Gene Summary',NULL,18790,NULL,'This gene encodes a 7-transmembrane G protein-coupled receptor that binds neuromedin B, which is a growth factor and mitogen for gastrointestinal epithelial tissue and for normal and neoplastic lung. This receptor may play a role in smooth muscle contraction, neuronal responses, and the regulation of cell growth. Antagonists of this receptor have a potential therapeutic use in inhibiting tumor cell growth. Polymorphisms in this gene may be associated with a susceptibility for schizophrenia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(47574,'NCBI Gene PubMed Count',NULL,18790,NULL,NULL,NULL,57,NULL,NULL,NULL),(47575,'NCBI Gene Summary',NULL,18791,NULL,'This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47576,'NCBI Gene PubMed Count',NULL,18791,NULL,NULL,NULL,18,NULL,NULL,NULL),(47577,'NCBI Gene Summary',NULL,18792,NULL,'This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47578,'NCBI Gene PubMed Count',NULL,18792,NULL,NULL,NULL,62,NULL,NULL,NULL),(47579,'NCBI Gene Summary',NULL,18793,NULL,'The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47580,'NCBI Gene PubMed Count',NULL,18793,NULL,NULL,NULL,173,NULL,NULL,NULL),(47581,'NCBI Gene Summary',NULL,18794,NULL,'This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(47582,'NCBI Gene PubMed Count',NULL,18794,NULL,NULL,NULL,860,NULL,NULL,NULL),(47583,'NCBI Gene Summary',NULL,18795,NULL,'This gene encodes a member of the neuromedin family of neuropeptides. The encoded preproprotein is proteolytically processed to generate a biologically active neuropeptide that plays a role in the regulation of circadian rhythm, anorexigenic action, antidiuretic action, cardiovascular function and stimulation of oxytocin and vasopressin release. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(47584,'NCBI Gene PubMed Count',NULL,18795,NULL,NULL,NULL,10,NULL,NULL,NULL),(47585,'NCBI Gene Summary',NULL,18796,NULL,'Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(47586,'NCBI Gene PubMed Count',NULL,18796,NULL,NULL,NULL,57,NULL,NULL,NULL),(47587,'NCBI Gene PubMed Count',NULL,18797,NULL,NULL,NULL,11,NULL,NULL,NULL),(47588,'NCBI Gene PubMed Count',NULL,18798,NULL,NULL,NULL,15,NULL,NULL,NULL),(47589,'NCBI Gene Summary',NULL,18799,NULL,'This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47590,'NCBI Gene PubMed Count',NULL,18799,NULL,NULL,NULL,15,NULL,NULL,NULL),(47591,'NCBI Gene Summary',NULL,18800,NULL,'The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47592,'NCBI Gene PubMed Count',NULL,18800,NULL,NULL,NULL,13,NULL,NULL,NULL),(47593,'NCBI Gene Summary',NULL,18801,NULL,'Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(47594,'NCBI Gene PubMed Count',NULL,18801,NULL,NULL,NULL,21,NULL,NULL,NULL),(47595,'NCBI Gene PubMed Count',NULL,18802,NULL,NULL,NULL,7,NULL,NULL,NULL),(47596,'NCBI Gene Summary',NULL,18803,NULL,'Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47597,'NCBI Gene PubMed Count',NULL,18803,NULL,NULL,NULL,746,NULL,NULL,NULL),(47598,'NCBI Gene Summary',NULL,18804,NULL,'This gene is intronless and encodes a member of the nucleosome assembly protein (NAP) family. This gene is linked closely to a region of genes responsible for several X-linked cognitive disability syndromes. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(47599,'NCBI Gene PubMed Count',NULL,18804,NULL,NULL,NULL,7,NULL,NULL,NULL),(47600,'NCBI Gene Summary',NULL,18805,NULL,'The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47601,'NCBI Gene PubMed Count',NULL,18805,NULL,NULL,NULL,58,NULL,NULL,NULL),(47602,'NCBI Gene PubMed Count',NULL,18806,NULL,NULL,NULL,1,NULL,NULL,NULL),(47603,'NCBI Gene PubMed Count',NULL,18807,NULL,NULL,NULL,1,NULL,NULL,NULL),(47604,'NCBI Gene PubMed Count',NULL,18808,NULL,NULL,NULL,3,NULL,NULL,NULL),(47605,'NCBI Gene PubMed Count',NULL,18809,NULL,NULL,NULL,1,NULL,NULL,NULL),(47606,'NCBI Gene PubMed Count',NULL,18810,NULL,NULL,NULL,2,NULL,NULL,NULL),(47607,'NCBI Gene PubMed Count',NULL,18811,NULL,NULL,NULL,3,NULL,NULL,NULL),(47608,'NCBI Gene PubMed Count',NULL,18812,NULL,NULL,NULL,1,NULL,NULL,NULL),(47609,'NCBI Gene Summary',NULL,18813,NULL,'The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47610,'NCBI Gene PubMed Count',NULL,18813,NULL,NULL,NULL,79,NULL,NULL,NULL),(47611,'NCBI Gene PubMed Count',NULL,18814,NULL,NULL,NULL,6,NULL,NULL,NULL),(47612,'NCBI Gene Summary',NULL,18815,NULL,'The protein encoded by this gene belongs to the protein phosphatase family, PP1 subfamily. PP1 is an ubiquitous serine/threonine phosphatase that regulates many cellular processes, including cell division. It is expressed in mammalian cells as three closely related isoforms, alpha, beta/delta and gamma, which have distinct localization patterns. This gene encodes the gamma isozyme. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(47613,'NCBI Gene PubMed Count',NULL,18815,NULL,NULL,NULL,86,NULL,NULL,NULL),(47614,'NCBI Gene Summary',NULL,18816,NULL,'This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(47615,'NCBI Gene PubMed Count',NULL,18816,NULL,NULL,NULL,30,NULL,NULL,NULL),(47616,'NCBI Gene Summary',NULL,18817,NULL,'This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47617,'NCBI Gene PubMed Count',NULL,18817,NULL,NULL,NULL,44,NULL,NULL,NULL),(47618,'NCBI Gene Summary',NULL,18818,NULL,'This gene is a member of a family of neurotrophic factors, neurotrophins, that control survival and differentiation of mammalian neurons. The expression of this gene is ubiquitous and less influenced by environmental signals. While knock-outs of other neurotrophins including nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3  prove lethal during early postnatal development, NTF5-deficient mice only show minor cellular deficits and develop normally to adulthood. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47619,'NCBI Gene PubMed Count',NULL,18818,NULL,NULL,NULL,55,NULL,NULL,NULL),(47620,'NCBI Gene Summary',NULL,18819,NULL,'This gene encodes a cytosolic factor that facilitates protein transport into the nucleus. The encoded protein is required for nuclear import of the small Ras-like GTPase, Ran which is involved in numerous cellular processes. This protein also interacts with the nuclear pore complex glycoprotein p62. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(47621,'NCBI Gene PubMed Count',NULL,18819,NULL,NULL,NULL,34,NULL,NULL,NULL),(47622,'NCBI Gene Summary',NULL,18820,NULL,'Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47623,'NCBI Gene PubMed Count',NULL,18820,NULL,NULL,NULL,84,NULL,NULL,NULL),(47624,'NCBI Gene Summary',NULL,18821,NULL,'This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47625,'NCBI Gene PubMed Count',NULL,18821,NULL,NULL,NULL,245,NULL,NULL,NULL),(47626,'NCBI Gene Summary',NULL,18822,NULL,'This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(47627,'NCBI Gene PubMed Count',NULL,18822,NULL,NULL,NULL,303,NULL,NULL,NULL),(47628,'NCBI Gene Summary',NULL,18823,NULL,'This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47629,'NCBI Gene PubMed Count',NULL,18823,NULL,NULL,NULL,46,NULL,NULL,NULL),(47630,'NCBI Gene PubMed Count',NULL,18824,NULL,NULL,NULL,51,NULL,NULL,NULL),(47631,'NCBI Gene Summary',NULL,18825,NULL,'Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(47632,'NCBI Gene PubMed Count',NULL,18825,NULL,NULL,NULL,41,NULL,NULL,NULL),(47633,'NCBI Gene Summary',NULL,18826,NULL,'The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47634,'NCBI Gene PubMed Count',NULL,18826,NULL,NULL,NULL,36,NULL,NULL,NULL),(47635,'NCBI Gene Summary',NULL,18827,NULL,'Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(47636,'NCBI Gene PubMed Count',NULL,18827,NULL,NULL,NULL,22,NULL,NULL,NULL),(47637,'NCBI Gene PubMed Count',NULL,18828,NULL,NULL,NULL,48,NULL,NULL,NULL),(47638,'NCBI Gene Summary',NULL,18829,NULL,'TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(47639,'NCBI Gene PubMed Count',NULL,18829,NULL,NULL,NULL,11,NULL,NULL,NULL),(47640,'NCBI Gene Summary',NULL,18830,NULL,'This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(47641,'NCBI Gene PubMed Count',NULL,18830,NULL,NULL,NULL,19,NULL,NULL,NULL),(47642,'NCBI Gene Summary',NULL,18831,NULL,'The protein encoded by this gene is a regulatory subunit of the serine/threonine-protein phosphatase 4 complex. In addition to being required for efficient DNA double strand break repair, this complex plays a role in organization of microtubules at centrosomes and processing of spliceosomal snRNPs. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(47643,'NCBI Gene PubMed Count',NULL,18831,NULL,NULL,NULL,18,NULL,NULL,NULL),(47644,'NCBI Gene Summary',NULL,18832,NULL,'The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(47645,'NCBI Gene PubMed Count',NULL,18832,NULL,NULL,NULL,7,NULL,NULL,NULL),(47646,'NCBI Gene PubMed Count',NULL,18833,NULL,NULL,NULL,6,NULL,NULL,NULL),(47647,'NCBI Gene PubMed Count',NULL,18834,NULL,NULL,NULL,3,NULL,NULL,NULL),(47648,'NCBI Gene Summary',NULL,18835,NULL,'Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(47649,'NCBI Gene PubMed Count',NULL,18835,NULL,NULL,NULL,13,NULL,NULL,NULL),(47650,'NCBI Gene Summary',NULL,18836,NULL,'The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alignment. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(47651,'NCBI Gene PubMed Count',NULL,18836,NULL,NULL,NULL,14,NULL,NULL,NULL),(47652,'NCBI Gene Summary',NULL,18837,NULL,'Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(47653,'NCBI Gene PubMed Count',NULL,18837,NULL,NULL,NULL,24,NULL,NULL,NULL),(47654,'NCBI Gene Summary',NULL,18838,NULL,'This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(47655,'NCBI Gene PubMed Count',NULL,18838,NULL,NULL,NULL,86,NULL,NULL,NULL),(47656,'NCBI Gene Summary',NULL,18839,NULL,'This gene encodes a member of the histidine acid phosphatase protein family. The encoded protein hydrolyzes lysophosphatidic acid, which is involved in G protein-coupled receptor signaling, lipid raft modulation, and in balancing lipid composition within the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2016]',NULL,NULL,NULL,NULL,NULL),(47657,'NCBI Gene PubMed Count',NULL,18839,NULL,NULL,NULL,15,NULL,NULL,NULL),(47658,'NCBI Gene Summary',NULL,18840,NULL,'The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(47659,'NCBI Gene PubMed Count',NULL,18840,NULL,NULL,NULL,118,NULL,NULL,NULL),(47660,'NCBI Gene Summary',NULL,18841,NULL,'The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]',NULL,NULL,NULL,NULL,NULL),(47661,'NCBI Gene PubMed Count',NULL,18841,NULL,NULL,NULL,34,NULL,NULL,NULL),(47662,'NCBI Gene Summary',NULL,18842,NULL,'The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3\' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(47663,'NCBI Gene PubMed Count',NULL,18842,NULL,NULL,NULL,76,NULL,NULL,NULL),(47664,'NCBI Gene Summary',NULL,18843,NULL,'This gene encodes an enzyme that catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is synthesized under androgen regulation and is secreted by the epithelial cells of the prostate gland. An alternatively spliced transcript variant encoding a longer isoform has been found for this gene. This isoform contains a transmembrane domain and is localized in the plasma membrane-endosomal-lysosomal pathway. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(47665,'NCBI Gene PubMed Count',NULL,18843,NULL,NULL,NULL,86,NULL,NULL,NULL),(47666,'NCBI Gene Summary',NULL,18844,NULL,'Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47667,'NCBI Gene PubMed Count',NULL,18844,NULL,NULL,NULL,540,NULL,NULL,NULL),(47668,'NCBI Gene Summary',NULL,18845,NULL,'This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. The encoded protein is thought to function as an integrator of transcriptional repression and nuclear receptor signaling. It may inhibit the ligand-induced transcriptional activity of peroxisome proliferator activated receptors alpha and gamma, though evidence for this effect is inconsistent. Expression of this gene in colorectal cancer cells may be variable but is typically relatively low. Knockout studies in mice suggested a role for this protein in myelination of the corpus callosum, lipid metabolism, differentiation, and epidermal cell proliferation. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(47669,'NCBI Gene PubMed Count',NULL,18845,NULL,NULL,NULL,304,NULL,NULL,NULL),(47670,'NCBI Gene Summary',NULL,18846,NULL,'The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47671,'NCBI Gene PubMed Count',NULL,18846,NULL,NULL,NULL,57,NULL,NULL,NULL),(47672,'NCBI Gene PubMed Count',NULL,18847,NULL,NULL,NULL,9,NULL,NULL,NULL),(47673,'NCBI Gene PubMed Count',NULL,18848,NULL,NULL,NULL,1,NULL,NULL,NULL),(47674,'NCBI Gene PubMed Count',NULL,18849,NULL,NULL,NULL,19,NULL,NULL,NULL),(47675,'NCBI Gene PubMed Count',NULL,18850,NULL,NULL,NULL,4,NULL,NULL,NULL),(47676,'NCBI Gene PubMed Count',NULL,18851,NULL,NULL,NULL,4,NULL,NULL,NULL),(47677,'NCBI Gene Summary',NULL,18852,NULL,'This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47678,'NCBI Gene PubMed Count',NULL,18852,NULL,NULL,NULL,32,NULL,NULL,NULL),(47679,'NCBI Gene Summary',NULL,18853,NULL,'This gene encodes a protein that shares sequence similarity to nucleosome assembly factors, but may be localized to the cytoplasm rather than the nucleus. Expression of this gene is downregulated in hepatocellular carcinomas. This gene is located within a differentially methylated region (DMR) and is imprinted and paternally expressed. There is a related pseudogene on chromosome 4. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(47680,'NCBI Gene PubMed Count',NULL,18853,NULL,NULL,NULL,12,NULL,NULL,NULL),(47681,'NCBI Gene PubMed Count',NULL,18854,NULL,NULL,NULL,2,NULL,NULL,NULL),(47682,'NCBI Gene Summary',NULL,18855,NULL,'This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and cognitive disability. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(47683,'NCBI Gene PubMed Count',NULL,18855,NULL,NULL,NULL,38,NULL,NULL,NULL),(47684,'NCBI Gene PubMed Count',NULL,18856,NULL,NULL,NULL,2,NULL,NULL,NULL),(47685,'NCBI Gene Summary',NULL,18858,NULL,'This gene encodes a member of the neuropeptide B/W family of proteins and preproprotein that is proteolytically processed to generate multiple protein products. The encoded products include neuropeptide B-23 and a C-terminally extended form, neuropeptide B-29, which are characterized by an N-terminal brominated tryptophan amino acid. Both of the encoded peptides bind with higher affinity to neuropeptide B/W (NPB/W) receptor 1 compared to the related NPB/W receptor 2. These peptides may regulate feeding, pain perception, and stress in rodents. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(47686,'NCBI Gene PubMed Count',NULL,18858,NULL,NULL,NULL,17,NULL,NULL,NULL),(47687,'NCBI Gene Summary',NULL,18859,NULL,'NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(47688,'NCBI Gene PubMed Count',NULL,18859,NULL,NULL,NULL,14,NULL,NULL,NULL),(47689,'NCBI Gene Summary',NULL,18860,NULL,'NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(47690,'NCBI Gene PubMed Count',NULL,18860,NULL,NULL,NULL,11,NULL,NULL,NULL),(47691,'NCBI Gene PubMed Count',NULL,18861,NULL,NULL,NULL,15,NULL,NULL,NULL),(47692,'NCBI Gene Summary',NULL,18862,NULL,'NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47693,'NCBI Gene PubMed Count',NULL,18862,NULL,NULL,NULL,17,NULL,NULL,NULL),(47694,'NCBI Gene Summary',NULL,18863,NULL,'The product of this gene is processed into 23- and 30-amino acid neuropeptides that bind and activate two G-protein coupled receptors in the central nervous system. The neuropeptides have been shown to enhance cortisol secretion from adrenal cells through the adenylate cyclase/protein kinase A signaling cascade. The preproprotein is translated using a non-AUG initiation codon that is inferred from analyses of the mouse ortholog. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47695,'NCBI Gene PubMed Count',NULL,18863,NULL,NULL,NULL,17,NULL,NULL,NULL),(47696,'NCBI Gene Summary',NULL,18864,NULL,'The protein encoded by this gene is a receptor for neuropeptide Y and peptide YY. The encoded protein appears to be involved in regulating food intake, with defects in this gene being associated with eating disorders. Also, the encoded protein is involved in a pathway that protects neuroblastoma cells from chemotherapy-induced cell death, providing a possible therapeutic target against neuroblastoma. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(47697,'NCBI Gene PubMed Count',NULL,18864,NULL,NULL,NULL,37,NULL,NULL,NULL),(47698,'NCBI Gene Summary',NULL,18865,NULL,'This gene encodes a member of the thioredoxin family of enzymes. It is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone substrates and uses dihydronicotinamide riboside as a reducing coenzyme. Mutations in this gene have been associated with neurodegenerative diseases and several cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(47699,'NCBI Gene PubMed Count',NULL,18865,NULL,NULL,NULL,65,NULL,NULL,NULL),(47700,'NCBI Gene Summary',NULL,18866,NULL,'This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(47701,'NCBI Gene PubMed Count',NULL,18866,NULL,NULL,NULL,24,NULL,NULL,NULL),(47702,'NCBI Gene Summary',NULL,18867,NULL,'This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47703,'NCBI Gene PubMed Count',NULL,18867,NULL,NULL,NULL,8,NULL,NULL,NULL),(47704,'NCBI Gene PubMed Count',NULL,18868,NULL,NULL,NULL,27,NULL,NULL,NULL),(47705,'NCBI Gene Summary',NULL,18869,NULL,'This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47706,'NCBI Gene PubMed Count',NULL,18869,NULL,NULL,NULL,39,NULL,NULL,NULL),(47707,'NCBI Gene Summary',NULL,18870,NULL,'This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47708,'NCBI Gene PubMed Count',NULL,18870,NULL,NULL,NULL,104,NULL,NULL,NULL),(47709,'NCBI Gene Summary',NULL,18871,NULL,'This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(47710,'NCBI Gene PubMed Count',NULL,18871,NULL,NULL,NULL,265,NULL,NULL,NULL),(47711,'NCBI Gene Summary',NULL,18872,NULL,'This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3\' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(47712,'NCBI Gene PubMed Count',NULL,18872,NULL,NULL,NULL,123,NULL,NULL,NULL),(47713,'NCBI Gene Summary',NULL,18873,NULL,'This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(47714,'NCBI Gene PubMed Count',NULL,18873,NULL,NULL,NULL,27,NULL,NULL,NULL),(47715,'NCBI Gene Summary',NULL,18874,NULL,'The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5\' UTR have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47716,'NCBI Gene PubMed Count',NULL,18874,NULL,NULL,NULL,34,NULL,NULL,NULL),(47717,'NCBI Gene PubMed Count',NULL,18875,NULL,NULL,NULL,14,NULL,NULL,NULL),(47718,'NCBI Gene PubMed Count',NULL,18876,NULL,NULL,NULL,4,NULL,NULL,NULL),(47719,'NCBI Gene Summary',NULL,18877,NULL,'This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. There is extensive alternative splicing at this locus. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(47720,'NCBI Gene PubMed Count',NULL,18877,NULL,NULL,NULL,8,NULL,NULL,NULL),(47721,'NCBI Gene PubMed Count',NULL,18878,NULL,NULL,NULL,1,NULL,NULL,NULL),(47722,'NCBI Gene Summary',NULL,18879,NULL,'The protein encoded by this gene belongs to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has higher inhibitory activity when phosphorylated. Inhibition of myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(47723,'NCBI Gene PubMed Count',NULL,18879,NULL,NULL,NULL,29,NULL,NULL,NULL),(47724,'NCBI Gene PubMed Count',NULL,18880,NULL,NULL,NULL,11,NULL,NULL,NULL),(47725,'NCBI Gene PubMed Count',NULL,18881,NULL,NULL,NULL,3,NULL,NULL,NULL),(47726,'NCBI Gene Summary',NULL,18882,NULL,'This gene encodes a 5\' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5\'- and 2\'(3\')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47727,'NCBI Gene PubMed Count',NULL,18882,NULL,NULL,NULL,8,NULL,NULL,NULL),(47728,'NCBI Gene PubMed Count',NULL,18883,NULL,NULL,NULL,12,NULL,NULL,NULL),(47729,'NCBI Gene PubMed Count',NULL,18884,NULL,NULL,NULL,14,NULL,NULL,NULL),(47730,'NCBI Gene PubMed Count',NULL,18885,NULL,NULL,NULL,7,NULL,NULL,NULL),(47731,'NCBI Gene PubMed Count',NULL,18886,NULL,NULL,NULL,13,NULL,NULL,NULL),(47732,'NCBI Gene PubMed Count',NULL,18887,NULL,NULL,NULL,4,NULL,NULL,NULL),(47733,'NCBI Gene PubMed Count',NULL,18888,NULL,NULL,NULL,4,NULL,NULL,NULL),(47734,'NCBI Gene PubMed Count',NULL,18889,NULL,NULL,NULL,2,NULL,NULL,NULL),(47735,'NCBI Gene Summary',NULL,18890,NULL,'This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(47736,'NCBI Gene PubMed Count',NULL,18890,NULL,NULL,NULL,60,NULL,NULL,NULL),(47737,'NCBI Gene PubMed Count',NULL,18891,NULL,NULL,NULL,9,NULL,NULL,NULL),(47738,'NCBI Gene PubMed Count',NULL,18892,NULL,NULL,NULL,16,NULL,NULL,NULL),(47739,'NCBI Gene Summary',NULL,18893,NULL,'The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(47740,'NCBI Gene PubMed Count',NULL,18893,NULL,NULL,NULL,58,NULL,NULL,NULL),(47741,'NCBI Gene Summary',NULL,18894,NULL,'This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(47742,'NCBI Gene PubMed Count',NULL,18894,NULL,NULL,NULL,34,NULL,NULL,NULL),(47743,'NCBI Gene PubMed Count',NULL,18895,NULL,NULL,NULL,14,NULL,NULL,NULL),(47744,'NCBI Gene Summary',NULL,18896,NULL,'The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(47745,'NCBI Gene PubMed Count',NULL,18896,NULL,NULL,NULL,50,NULL,NULL,NULL),(47746,'NCBI Gene Summary',NULL,18897,NULL,'The protein encoded by this gene is a member of the neurotrophin family, that controls survival and differentiation of mammalian neurons. This protein is closely related to both nerve growth factor and brain-derived neurotrophic factor. It may be involved in the maintenance of the adult nervous system, and may affect development of neurons in the embryo when it is expressed in human placenta. NTF3-deficient mice generated by gene targeting display severe movement defects of the limbs. The mature peptide of this protein is identical in all mammals examined including human, pig, rat and mouse. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47747,'NCBI Gene PubMed Count',NULL,18897,NULL,NULL,NULL,102,NULL,NULL,NULL),(47748,'NCBI Gene PubMed Count',NULL,18898,NULL,NULL,NULL,5,NULL,NULL,NULL),(47749,'NCBI Gene PubMed Count',NULL,18899,NULL,NULL,NULL,1,NULL,NULL,NULL),(47750,'NCBI Gene PubMed Count',NULL,18900,NULL,NULL,NULL,1,NULL,NULL,NULL),(47751,'NCBI Gene Summary',NULL,18901,NULL,'The protein encoded by this gene belongs to the G protein-coupled receptor family that activate a phosphatidylinositol-calcium second messenger system. Binding and pharmacological studies demonstrate that this receptor binds neurotensin as well as several other ligands already described for neurotensin NT1 receptor. However, unlike NT1 receptor, this gene recognizes, with high affinity, levocabastine, a histamine H1 receptor antagonist previously shown to compete with neurotensin for low-affinity binding sites in brain. These activities suggest that this receptor may be of physiological importance and that a natural agonist for the receptor may exist. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47752,'NCBI Gene PubMed Count',NULL,18901,NULL,NULL,NULL,23,NULL,NULL,NULL),(47753,'NCBI Gene Summary',NULL,18902,NULL,'This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47754,'NCBI Gene PubMed Count',NULL,18902,NULL,NULL,NULL,307,NULL,NULL,NULL),(47755,'NCBI Gene PubMed Count',NULL,18903,NULL,NULL,NULL,1,NULL,NULL,NULL),(47756,'NCBI Gene Summary',NULL,18904,NULL,'The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. The protein is primarily expressed in placental and endometrial tissue; however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(47757,'NCBI Gene PubMed Count',NULL,18904,NULL,NULL,NULL,72,NULL,NULL,NULL),(47758,'NCBI Gene PubMed Count',NULL,18905,NULL,NULL,NULL,1,NULL,NULL,NULL),(47759,'NCBI Gene Summary',NULL,18906,NULL,'There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(47760,'NCBI Gene PubMed Count',NULL,18906,NULL,NULL,NULL,45,NULL,NULL,NULL),(47761,'NCBI Gene Summary',NULL,18907,NULL,'This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(47762,'NCBI Gene PubMed Count',NULL,18907,NULL,NULL,NULL,225,NULL,NULL,NULL),(47763,'NCBI Gene Summary',NULL,18908,NULL,'This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Neurotensin also exhibits antimicrobial activity against bacteria and fungi. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(47764,'NCBI Gene PubMed Count',NULL,18908,NULL,NULL,NULL,96,NULL,NULL,NULL),(47765,'NCBI Gene PubMed Count',NULL,18909,NULL,NULL,NULL,14,NULL,NULL,NULL),(47766,'NCBI Gene Summary',NULL,18910,NULL,'This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(47767,'NCBI Gene PubMed Count',NULL,18910,NULL,NULL,NULL,207,NULL,NULL,NULL),(47768,'NCBI Gene Summary',NULL,18911,NULL,'This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(47769,'NCBI Gene PubMed Count',NULL,18911,NULL,NULL,NULL,73,NULL,NULL,NULL),(47770,'NCBI Gene PubMed Count',NULL,18912,NULL,NULL,NULL,4,NULL,NULL,NULL),(47771,'NCBI Gene Summary',NULL,18913,NULL,'This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias \'TTF1\' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(47772,'NCBI Gene PubMed Count',NULL,18913,NULL,NULL,NULL,277,NULL,NULL,NULL),(47773,'NCBI Gene Summary',NULL,18914,NULL,'This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47774,'NCBI Gene PubMed Count',NULL,18914,NULL,NULL,NULL,46,NULL,NULL,NULL),(47775,'NCBI Gene Summary',NULL,18915,NULL,'This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(47776,'NCBI Gene PubMed Count',NULL,18915,NULL,NULL,NULL,48,NULL,NULL,NULL),(47777,'NCBI Gene Summary',NULL,18916,NULL,'This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(47778,'NCBI Gene PubMed Count',NULL,18916,NULL,NULL,NULL,172,NULL,NULL,NULL),(47779,'NCBI Gene Summary',NULL,18917,NULL,'This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(47780,'NCBI Gene PubMed Count',NULL,18917,NULL,NULL,NULL,270,NULL,NULL,NULL),(47781,'NCBI Gene Summary',NULL,18918,NULL,'The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47782,'NCBI Gene PubMed Count',NULL,18918,NULL,NULL,NULL,7,NULL,NULL,NULL),(47783,'NCBI Gene Summary',NULL,18919,NULL,'The protein encoded by this gene is a member of the NLR family and localizes to the outer mitochondrial membrane. The encoded protein is a regulator of mitochondrial antivirus responses. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(47784,'NCBI Gene PubMed Count',NULL,18919,NULL,NULL,NULL,35,NULL,NULL,NULL),(47785,'NCBI Gene Summary',NULL,18920,NULL,'NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47786,'NCBI Gene PubMed Count',NULL,18920,NULL,NULL,NULL,49,NULL,NULL,NULL),(47787,'NCBI Gene PubMed Count',NULL,18921,NULL,NULL,NULL,16,NULL,NULL,NULL),(47788,'NCBI Gene Summary',NULL,18922,NULL,'This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(47789,'NCBI Gene PubMed Count',NULL,18922,NULL,NULL,NULL,41,NULL,NULL,NULL),(47790,'NCBI Gene PubMed Count',NULL,18923,NULL,NULL,NULL,14,NULL,NULL,NULL),(47791,'NCBI Gene Summary',NULL,18924,NULL,'This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a duplicated region on the short arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47792,'NCBI Gene PubMed Count',NULL,18924,NULL,NULL,NULL,10,NULL,NULL,NULL),(47793,'NCBI Gene Summary',NULL,18925,NULL,'The protein encoded by this gene localizes to the nucleolus, where it maintains nucleolar structure and cell growth rates. The encoded protein also functions as a tumor suppressor and regulator of angiogenesis. The RB tumor suppressor gene recruits transcription factors to this gene and positively regulates its expression. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(47794,'NCBI Gene PubMed Count',NULL,18925,NULL,NULL,NULL,19,NULL,NULL,NULL),(47795,'NCBI Gene Summary',NULL,18926,NULL,'NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(47796,'NCBI Gene PubMed Count',NULL,18926,NULL,NULL,NULL,18,NULL,NULL,NULL),(47797,'NCBI Gene Summary',NULL,18927,NULL,'This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47798,'NCBI Gene PubMed Count',NULL,18927,NULL,NULL,NULL,22,NULL,NULL,NULL),(47799,'NCBI Gene PubMed Count',NULL,18928,NULL,NULL,NULL,13,NULL,NULL,NULL),(47800,'NCBI Gene PubMed Count',NULL,18929,NULL,NULL,NULL,11,NULL,NULL,NULL),(47801,'NCBI Gene PubMed Count',NULL,18931,NULL,NULL,NULL,4,NULL,NULL,NULL),(47802,'NCBI Gene PubMed Count',NULL,18932,NULL,NULL,NULL,1,NULL,NULL,NULL),(47803,'NCBI Gene Summary',NULL,18933,NULL,'This gene encodes a member of a subfamily of G-protein-coupled neuropeptide receptors. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and regulation of the opioid system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(47804,'NCBI Gene PubMed Count',NULL,18933,NULL,NULL,NULL,24,NULL,NULL,NULL),(47805,'NCBI Gene Summary',NULL,18934,NULL,'This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]',NULL,NULL,NULL,NULL,NULL),(47806,'NCBI Gene PubMed Count',NULL,18934,NULL,NULL,NULL,74,NULL,NULL,NULL),(47807,'NCBI Gene PubMed Count',NULL,18935,NULL,NULL,NULL,3,NULL,NULL,NULL),(47808,'NCBI Gene PubMed Count',NULL,18936,NULL,NULL,NULL,14,NULL,NULL,NULL),(47809,'NCBI Gene PubMed Count',NULL,18937,NULL,NULL,NULL,10,NULL,NULL,NULL),(47810,'NCBI Gene PubMed Count',NULL,18938,NULL,NULL,NULL,6,NULL,NULL,NULL),(47811,'NCBI Gene Summary',NULL,18939,NULL,'The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(47812,'NCBI Gene PubMed Count',NULL,18939,NULL,NULL,NULL,10,NULL,NULL,NULL),(47813,'NCBI Gene Summary',NULL,18940,NULL,'The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(47814,'NCBI Gene PubMed Count',NULL,18940,NULL,NULL,NULL,17,NULL,NULL,NULL),(47815,'NCBI Gene Summary',NULL,18941,NULL,'This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(47816,'NCBI Gene PubMed Count',NULL,18941,NULL,NULL,NULL,33,NULL,NULL,NULL),(47817,'NCBI Gene PubMed Count',NULL,18942,NULL,NULL,NULL,64,NULL,NULL,NULL),(47818,'NCBI Gene Summary',NULL,18943,NULL,'The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(47819,'NCBI Gene PubMed Count',NULL,18943,NULL,NULL,NULL,14,NULL,NULL,NULL),(47820,'NCBI Gene Summary',NULL,18944,NULL,'Myosin light chain kinase and phosphatase (MLCP) complexes control the phosphorylation states of regulatory myosin light chains, which is crucial for muscle and intracellular movement. MLCPs typically contain a catalytic protein phosphatase 1 (PP1c) subunit, a myosin phosphatase targeting (MYPT) subunit, and another smaller subunit. The protein encoded by this gene represents an MYPT subunit, which is responsible for directing PP1c to its intended targets. However, while other MYPTs result in PP1c activation after becoming phosphorylated, the encoded protein is phosphorylated by protein kinase A and then inhibits the catalytic activity of PP1c. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(47821,'NCBI Gene PubMed Count',NULL,18944,NULL,NULL,NULL,18,NULL,NULL,NULL),(47822,'NCBI Gene Summary',NULL,18945,NULL,'The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(47823,'NCBI Gene PubMed Count',NULL,18945,NULL,NULL,NULL,20,NULL,NULL,NULL),(47824,'NCBI Gene Summary',NULL,18946,NULL,'While the exact function of the protein encoded by this gene is not known, it belongs to the 5\'(3\')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(47825,'NCBI Gene PubMed Count',NULL,18946,NULL,NULL,NULL,13,NULL,NULL,NULL),(47826,'NCBI Gene Summary',NULL,18947,NULL,'This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(47827,'NCBI Gene PubMed Count',NULL,18947,NULL,NULL,NULL,14,NULL,NULL,NULL),(47828,'NCBI Gene Summary',NULL,18948,NULL,'The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asn residues on proteins to produce N-terminal L-Asp. L-Asp substrates are subsequently conjugated to L-Arg, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Pseudogenes of this gene are located on the long arms of chromosomes 8, 10 and 12. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(47829,'NCBI Gene PubMed Count',NULL,18948,NULL,NULL,NULL,10,NULL,NULL,NULL),(47830,'NCBI Gene Summary',NULL,18949,NULL,'This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47831,'NCBI Gene PubMed Count',NULL,18949,NULL,NULL,NULL,29,NULL,NULL,NULL),(47832,'NCBI Gene Summary',NULL,18950,NULL,'The METTL11A gene encodes an N-terminal methyltransferase for the RAN (MIM 601179) guanine nucleotide exchange factor regulator of chromosome condensation 1 (RCC1; MIM 179710). METTL11A enzyme alpha-N-methylates other protein targets such as SET (MIM 600960) and RB (MIM 180200).[supplied by OMIM, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(47833,'NCBI Gene PubMed Count',NULL,18950,NULL,NULL,NULL,19,NULL,NULL,NULL),(47834,'NCBI Gene Summary',NULL,18951,NULL,'This gene encodes a preproprotein that is processed into a secreted protein containing eukaroytic growth factor (EGF)-like domains. This protein acts to guide axon growth during neuronal development. Polymorphisms in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(47835,'NCBI Gene PubMed Count',NULL,18951,NULL,NULL,NULL,31,NULL,NULL,NULL),(47836,'NCBI Gene PubMed Count',NULL,18952,NULL,NULL,NULL,18,NULL,NULL,NULL),(47837,'NCBI Gene PubMed Count',NULL,18953,NULL,NULL,NULL,2,NULL,NULL,NULL),(47838,'NCBI Gene PubMed Count',NULL,18954,NULL,NULL,NULL,2,NULL,NULL,NULL),(47839,'NCBI Gene PubMed Count',NULL,18955,NULL,NULL,NULL,1,NULL,NULL,NULL),(47840,'NCBI Gene PubMed Count',NULL,18956,NULL,NULL,NULL,2,NULL,NULL,NULL),(47841,'NCBI Gene Summary',NULL,18957,NULL,'The protein encoded by this gene is a non-specific nucleoside triphosphatase that is slow-acting in vitro. This gene is overexpressed in many tumor tissues, and while it is not essential for the cell, overexpression is cytotoxic. However, the cytotoxicity is not related to its triphosphatase activity. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(47842,'NCBI Gene PubMed Count',NULL,18957,NULL,NULL,NULL,7,NULL,NULL,NULL),(47843,'NCBI Gene Summary',NULL,18958,NULL,'This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(47844,'NCBI Gene PubMed Count',NULL,18958,NULL,NULL,NULL,28,NULL,NULL,NULL),(47845,'NCBI Gene Summary',NULL,18959,NULL,'This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes a beta isoform of the catalytic subunit. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(47846,'NCBI Gene PubMed Count',NULL,18959,NULL,NULL,NULL,52,NULL,NULL,NULL),(47847,'NCBI Gene Summary',NULL,18960,NULL,'This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(47848,'NCBI Gene PubMed Count',NULL,18960,NULL,NULL,NULL,146,NULL,NULL,NULL),(47849,'NCBI Gene PubMed Count',NULL,18961,NULL,NULL,NULL,130,NULL,NULL,NULL),(47850,'NCBI Gene Summary',NULL,18962,NULL,'Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(47851,'NCBI Gene PubMed Count',NULL,18962,NULL,NULL,NULL,85,NULL,NULL,NULL),(47852,'NCBI Gene PubMed Count',NULL,18963,NULL,NULL,NULL,2,NULL,NULL,NULL),(47853,'NCBI Gene Summary',NULL,18964,NULL,'NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(47854,'NCBI Gene PubMed Count',NULL,18964,NULL,NULL,NULL,29,NULL,NULL,NULL),(47855,'NCBI Gene Summary',NULL,18965,NULL,'The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(47856,'NCBI Gene PubMed Count',NULL,18965,NULL,NULL,NULL,10,NULL,NULL,NULL),(47857,'NCBI Gene Summary',NULL,18966,NULL,'TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(47858,'NCBI Gene PubMed Count',NULL,18966,NULL,NULL,NULL,5,NULL,NULL,NULL),(47859,'NCBI Gene Summary',NULL,18967,NULL,'Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(47860,'NCBI Gene PubMed Count',NULL,18967,NULL,NULL,NULL,11,NULL,NULL,NULL),(47861,'NCBI Gene PubMed Count',NULL,18968,NULL,NULL,NULL,20,NULL,NULL,NULL),(47862,'NCBI Gene Summary',NULL,18969,NULL,'This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47863,'NCBI Gene PubMed Count',NULL,18969,NULL,NULL,NULL,6,NULL,NULL,NULL),(47864,'NCBI Gene Summary',NULL,18970,NULL,'The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47865,'NCBI Gene PubMed Count',NULL,18970,NULL,NULL,NULL,25,NULL,NULL,NULL),(47866,'NCBI Gene PubMed Count',NULL,18971,NULL,NULL,NULL,1,NULL,NULL,NULL),(47867,'NCBI Gene Summary',NULL,18972,NULL,'NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(47868,'NCBI Gene PubMed Count',NULL,18972,NULL,NULL,NULL,18,NULL,NULL,NULL),(47869,'NCBI Gene Summary',NULL,18973,NULL,'This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(47870,'NCBI Gene PubMed Count',NULL,18973,NULL,NULL,NULL,113,NULL,NULL,NULL),(47871,'NCBI Gene Summary',NULL,18974,NULL,'This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(47872,'NCBI Gene PubMed Count',NULL,18974,NULL,NULL,NULL,17,NULL,NULL,NULL),(47873,'NCBI Gene Summary',NULL,18975,NULL,'Nuclear pore complexes (NPCs) are used for transporting macromolecules between the cytoplasm and the nucleus. NPCs consist of multiple copies of 30 distinct proteins (nucleoporins), which assemble into biochemically-separable subcomplexes. The protein encoded by this gene is part of a subcomplex (Nup107-160) that is required for proper NPC function as well as for normal kinetochore-microtubule interaction and mitosis. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(47874,'NCBI Gene PubMed Count',NULL,18975,NULL,NULL,NULL,12,NULL,NULL,NULL),(47875,'NCBI Gene Summary',NULL,18976,NULL,'The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47876,'NCBI Gene PubMed Count',NULL,18976,NULL,NULL,NULL,24,NULL,NULL,NULL),(47877,'NCBI Gene Summary',NULL,18977,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47878,'NCBI Gene PubMed Count',NULL,18977,NULL,NULL,NULL,1,NULL,NULL,NULL),(47879,'NCBI Gene Summary',NULL,18978,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47880,'NCBI Gene PubMed Count',NULL,18978,NULL,NULL,NULL,5,NULL,NULL,NULL),(47881,'NCBI Gene Summary',NULL,18979,NULL,'The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(47882,'NCBI Gene PubMed Count',NULL,18979,NULL,NULL,NULL,25,NULL,NULL,NULL),(47883,'NCBI Gene Summary',NULL,18980,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47884,'NCBI Gene PubMed Count',NULL,18980,NULL,NULL,NULL,3,NULL,NULL,NULL),(47885,'NCBI Gene Summary',NULL,18981,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47886,'NCBI Gene PubMed Count',NULL,18981,NULL,NULL,NULL,12,NULL,NULL,NULL),(47887,'NCBI Gene Summary',NULL,18982,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(47888,'NCBI Gene PubMed Count',NULL,18982,NULL,NULL,NULL,4,NULL,NULL,NULL),(47889,'NCBI Gene Summary',NULL,18983,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47890,'NCBI Gene PubMed Count',NULL,18983,NULL,NULL,NULL,2,NULL,NULL,NULL),(47891,'NCBI Gene Summary',NULL,18984,NULL,'The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(47892,'NCBI Gene PubMed Count',NULL,18984,NULL,NULL,NULL,22,NULL,NULL,NULL),(47893,'NCBI Gene Summary',NULL,18985,NULL,'This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47894,'NCBI Gene PubMed Count',NULL,18985,NULL,NULL,NULL,22,NULL,NULL,NULL),(47895,'NCBI Gene Summary',NULL,18986,NULL,'The protein encoded by this gene is a pregnancy-specific glycoprotein (PSG), one of several encoded by a cluster of similar genes on chromosome 19. This gene is a member of the carcinoembryonic antigen (CEA) gene family and may play a role in regulation of the innate immune system. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(47896,'NCBI Gene PubMed Count',NULL,18986,NULL,NULL,NULL,17,NULL,NULL,NULL),(47897,'NCBI Gene Summary',NULL,18987,NULL,'The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(47898,'NCBI Gene PubMed Count',NULL,18987,NULL,NULL,NULL,19,NULL,NULL,NULL),(47899,'NCBI Gene Summary',NULL,18988,NULL,'This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The protein encoded by this gene contains the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(47900,'NCBI Gene PubMed Count',NULL,18988,NULL,NULL,NULL,14,NULL,NULL,NULL),(47901,'NCBI Gene Summary',NULL,18989,NULL,'This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(47902,'NCBI Gene PubMed Count',NULL,18989,NULL,NULL,NULL,15,NULL,NULL,NULL),(47903,'NCBI Gene Summary',NULL,18990,NULL,'The protein encoded by this gene is a member of the pregnancy-specific glycoprotein (PSG) family. This protein family and the closely related carcinoembryonic antigen cell adhesion molecule (CEACAM) gene family are both members of the immunoglobulin superfamily, and are organized as a large gene cluster. This protein is thought to inhibit platelet-fibrinogen interactions. Several studies suggest that reduced serum concentrations of PSGs are associated with fetal growth restrictions, while up-regulation of this gene has been observed in colorectal cancers. Several pseudogenes of this gene are found on chromosome 19. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]',NULL,NULL,NULL,NULL,NULL),(47904,'NCBI Gene PubMed Count',NULL,18990,NULL,NULL,NULL,20,NULL,NULL,NULL),(47905,'NCBI Gene Summary',NULL,18991,NULL,'This gene encodes a member of the leukemia inhibitory factor/oncostatin-M (LIF/OSM) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a secreted cytokine and growth regulator that inhibits the proliferation of a number of tumor cell lines. This protein also regulates the production of other cytokines, including interleukin 6, granulocyte-colony stimulating factor and granulocyte-macrophage colony stimulating factor in endothelial cells. This gene and the related gene, leukemia inhibitory factor, also present on chromosome 22, may have resulted from the duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(47906,'NCBI Gene PubMed Count',NULL,18991,NULL,NULL,NULL,143,NULL,NULL,NULL),(47907,'NCBI Gene PubMed Count',NULL,18992,NULL,NULL,NULL,7,NULL,NULL,NULL),(47908,'NCBI Gene PubMed Count',NULL,18993,NULL,NULL,NULL,2,NULL,NULL,NULL),(47909,'NCBI Gene PubMed Count',NULL,18994,NULL,NULL,NULL,13,NULL,NULL,NULL),(47910,'NCBI Gene PubMed Count',NULL,18995,NULL,NULL,NULL,9,NULL,NULL,NULL),(47911,'NCBI Gene Summary',NULL,18996,NULL,'Alzheimer\'s disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]',NULL,NULL,NULL,NULL,NULL),(47912,'NCBI Gene PubMed Count',NULL,18996,NULL,NULL,NULL,685,NULL,NULL,NULL),(47913,'NCBI Gene Summary',NULL,18997,NULL,'Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this family member may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(47914,'NCBI Gene PubMed Count',NULL,18997,NULL,NULL,NULL,17,NULL,NULL,NULL),(47915,'NCBI Gene Summary',NULL,18998,NULL,'This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(47916,'NCBI Gene PubMed Count',NULL,18998,NULL,NULL,NULL,142,NULL,NULL,NULL),(47917,'NCBI Gene Summary',NULL,18999,NULL,'This gene is significantly upregulated in Fanconi\'s anemia fibroblasts but downregulated or absent in fibroblasts from normal donors. It is also highly expressed in FA B-cells of complementation group A. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47918,'NCBI Gene PubMed Count',NULL,18999,NULL,NULL,NULL,3,NULL,NULL,NULL),(47919,'NCBI Gene Summary',NULL,19000,NULL,'This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. This protein may play a role in cell death, and nervous system development and function. Elevated expression of this gene has been observed in oral squamous cell carcinoma. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(47920,'NCBI Gene PubMed Count',NULL,19000,NULL,NULL,NULL,12,NULL,NULL,NULL),(47921,'NCBI Gene Summary',NULL,19001,NULL,'The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(47922,'NCBI Gene PubMed Count',NULL,19001,NULL,NULL,NULL,16,NULL,NULL,NULL),(47923,'NCBI Gene Summary',NULL,19002,NULL,'The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(47924,'NCBI Gene PubMed Count',NULL,19002,NULL,NULL,NULL,14,NULL,NULL,NULL),(47925,'NCBI Gene Summary',NULL,19003,NULL,'Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of \'A\' (encoded by NME1) and \'B\' (encoded by this gene) isoforms. Multiple alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (NME1) generates naturally-occurring transcripts (NME1-NME2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(47926,'NCBI Gene PubMed Count',NULL,19003,NULL,NULL,NULL,88,NULL,NULL,NULL),(47927,'NCBI Gene Summary',NULL,19004,NULL,'The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(47928,'NCBI Gene PubMed Count',NULL,19004,NULL,NULL,NULL,27,NULL,NULL,NULL),(47929,'NCBI Gene Summary',NULL,19005,NULL,'The protein encoded by this gene is a transcriptional regulator that binds as a homodimer to activating transcription factor (ATF) sites in many cellular and viral promoters. The encoded protein represses PER1 and PER2 expression and therefore plays a role in the regulation of circadian rhythm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(47930,'NCBI Gene PubMed Count',NULL,19005,NULL,NULL,NULL,41,NULL,NULL,NULL),(47931,'NCBI Gene Summary',NULL,19006,NULL,'Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47932,'NCBI Gene PubMed Count',NULL,19006,NULL,NULL,NULL,45,NULL,NULL,NULL),(47933,'NCBI Gene Summary',NULL,19007,NULL,'The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(47934,'NCBI Gene PubMed Count',NULL,19007,NULL,NULL,NULL,24,NULL,NULL,NULL),(47935,'NCBI Gene PubMed Count',NULL,19008,NULL,NULL,NULL,22,NULL,NULL,NULL),(47936,'NCBI Gene Summary',NULL,19009,NULL,'The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47937,'NCBI Gene PubMed Count',NULL,19009,NULL,NULL,NULL,85,NULL,NULL,NULL),(47938,'NCBI Gene PubMed Count',NULL,19010,NULL,NULL,NULL,9,NULL,NULL,NULL),(47939,'NCBI Gene PubMed Count',NULL,19011,NULL,NULL,NULL,10,NULL,NULL,NULL),(47940,'NCBI Gene Summary',NULL,19012,NULL,'This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(47941,'NCBI Gene PubMed Count',NULL,19012,NULL,NULL,NULL,157,NULL,NULL,NULL),(47942,'NCBI Gene Summary',NULL,19013,NULL,'The protein encoded by this gene is a core component of box C/D small nucleolar ribonucleoproteins. Some box C/D small nucleolar RNAs (snoRNAs), such as U3, U8, and U14, are dependent upon the encoded protein for their synthesis. This protein is SUMOylated, which is necessary for high affinity binding to snoRNAs. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(47943,'NCBI Gene PubMed Count',NULL,19013,NULL,NULL,NULL,27,NULL,NULL,NULL),(47944,'NCBI Gene PubMed Count',NULL,19014,NULL,NULL,NULL,7,NULL,NULL,NULL),(47945,'NCBI Gene PubMed Count',NULL,19015,NULL,NULL,NULL,15,NULL,NULL,NULL),(47946,'NCBI Gene Summary',NULL,19016,NULL,'The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(47947,'NCBI Gene PubMed Count',NULL,19016,NULL,NULL,NULL,11,NULL,NULL,NULL),(47948,'NCBI Gene PubMed Count',NULL,19017,NULL,NULL,NULL,17,NULL,NULL,NULL),(47949,'NCBI Gene Summary',NULL,19018,NULL,'This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47950,'NCBI Gene PubMed Count',NULL,19018,NULL,NULL,NULL,83,NULL,NULL,NULL),(47951,'NCBI Gene Summary',NULL,19019,NULL,'This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(47952,'NCBI Gene PubMed Count',NULL,19019,NULL,NULL,NULL,29,NULL,NULL,NULL),(47953,'NCBI Gene Summary',NULL,19020,NULL,'This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(47954,'NCBI Gene PubMed Count',NULL,19020,NULL,NULL,NULL,7,NULL,NULL,NULL),(47955,'NCBI Gene Summary',NULL,19021,NULL,'Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47956,'NCBI Gene PubMed Count',NULL,19021,NULL,NULL,NULL,41,NULL,NULL,NULL),(47957,'NCBI Gene Summary',NULL,19022,NULL,'Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(47958,'NCBI Gene PubMed Count',NULL,19022,NULL,NULL,NULL,6,NULL,NULL,NULL),(47959,'NCBI Gene Summary',NULL,19023,NULL,'This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47960,'NCBI Gene PubMed Count',NULL,19023,NULL,NULL,NULL,1866,NULL,NULL,NULL),(47961,'NCBI Gene Summary',NULL,19024,NULL,'Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47962,'NCBI Gene PubMed Count',NULL,19024,NULL,NULL,NULL,4,NULL,NULL,NULL),(47963,'NCBI Gene Summary',NULL,19025,NULL,'The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(47964,'NCBI Gene PubMed Count',NULL,19025,NULL,NULL,NULL,19,NULL,NULL,NULL),(47965,'NCBI Gene PubMed Count',NULL,19026,NULL,NULL,NULL,2,NULL,NULL,NULL),(47966,'NCBI Gene Summary',NULL,19027,NULL,'This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47967,'NCBI Gene PubMed Count',NULL,19027,NULL,NULL,NULL,14,NULL,NULL,NULL),(47968,'NCBI Gene Summary',NULL,19028,NULL,'This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(47969,'NCBI Gene PubMed Count',NULL,19028,NULL,NULL,NULL,61,NULL,NULL,NULL),(47970,'NCBI Gene PubMed Count',NULL,19029,NULL,NULL,NULL,1,NULL,NULL,NULL),(47971,'NCBI Gene Summary',NULL,19030,NULL,'This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(47972,'NCBI Gene PubMed Count',NULL,19030,NULL,NULL,NULL,32,NULL,NULL,NULL),(47973,'NCBI Gene Summary',NULL,19031,NULL,'This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47974,'NCBI Gene PubMed Count',NULL,19031,NULL,NULL,NULL,20,NULL,NULL,NULL),(47975,'NCBI Gene PubMed Count',NULL,19032,NULL,NULL,NULL,7,NULL,NULL,NULL),(47976,'NCBI Gene Summary',NULL,19033,NULL,'This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(47977,'NCBI Gene PubMed Count',NULL,19033,NULL,NULL,NULL,19,NULL,NULL,NULL),(47978,'NCBI Gene Summary',NULL,19034,NULL,'This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(47979,'NCBI Gene PubMed Count',NULL,19034,NULL,NULL,NULL,46,NULL,NULL,NULL),(47980,'NCBI Gene Summary',NULL,19035,NULL,'This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(47981,'NCBI Gene PubMed Count',NULL,19035,NULL,NULL,NULL,24,NULL,NULL,NULL),(47982,'NCBI Gene Summary',NULL,19036,NULL,'Netrin is included in a family of laminin-related secreted proteins.  The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development.  Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47983,'NCBI Gene PubMed Count',NULL,19036,NULL,NULL,NULL,130,NULL,NULL,NULL),(47984,'NCBI Gene Summary',NULL,19037,NULL,'Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5\' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47985,'NCBI Gene PubMed Count',NULL,19037,NULL,NULL,NULL,33,NULL,NULL,NULL),(47986,'NCBI Gene Summary',NULL,19038,NULL,'This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(47987,'NCBI Gene PubMed Count',NULL,19038,NULL,NULL,NULL,1072,NULL,NULL,NULL),(47988,'NCBI Gene PubMed Count',NULL,19039,NULL,NULL,NULL,20,NULL,NULL,NULL),(47989,'NCBI Gene Summary',NULL,19040,NULL,'This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer\'s disease; however, the nature of the encoded protein\'s role in Alzheimer\'s disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(47990,'NCBI Gene PubMed Count',NULL,19040,NULL,NULL,NULL,125,NULL,NULL,NULL),(47991,'NCBI Gene PubMed Count',NULL,19041,NULL,NULL,NULL,7,NULL,NULL,NULL),(47992,'NCBI Gene Summary',NULL,19042,NULL,'This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(47993,'NCBI Gene PubMed Count',NULL,19042,NULL,NULL,NULL,19,NULL,NULL,NULL),(47994,'NCBI Gene Summary',NULL,19043,NULL,'The NKX family of homeodomain proteins controls numerous developmental processes. Members of the NKX6 subfamily, including NKX6-3, are involved in development of the central nervous system (CNS), gastrointestinal tract, and pancreas (Alanentalo et al., 2006 [PubMed 16326147]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(47995,'NCBI Gene PubMed Count',NULL,19043,NULL,NULL,NULL,10,NULL,NULL,NULL),(47996,'NCBI Gene Summary',NULL,19044,NULL,'The protein encoded by this gene is a homeobox-containing developmental regulator associated with liver development. The encoded protein binds to the alpha-fetoprotein (AFP) gene promoter and increases the expression of AFP. This gene is overexpressed in some lung cancers and is linked to poor patient survival, possibly due to its resistance to cisplatin. This gene is aberrantly methylated in pancreatic cancer, deleted in squamous cell lung carcinomas, and acts as a tumor suppressor in esophageal cancer. Mutations in this gene may also be a cause of neural tube defects. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(47997,'NCBI Gene PubMed Count',NULL,19044,NULL,NULL,NULL,19,NULL,NULL,NULL),(47998,'NCBI Gene PubMed Count',NULL,19045,NULL,NULL,NULL,3,NULL,NULL,NULL),(47999,'NCBI Gene Summary',NULL,19046,NULL,'The protein encoded by this intronless gene is a member of the nucleosome assembly protein (NAP) family. The encoded protein represents a class of tissue-specific factors that interact with chromatin to regulate neuronal cell proliferation. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(48000,'NCBI Gene PubMed Count',NULL,19046,NULL,NULL,NULL,9,NULL,NULL,NULL),(48001,'NCBI Gene Summary',NULL,19047,NULL,'This gene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48002,'NCBI Gene PubMed Count',NULL,19047,NULL,NULL,NULL,19,NULL,NULL,NULL),(48003,'NCBI Gene Summary',NULL,19048,NULL,'This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(48004,'NCBI Gene PubMed Count',NULL,19048,NULL,NULL,NULL,183,NULL,NULL,NULL),(48005,'NCBI Gene PubMed Count',NULL,19049,NULL,NULL,NULL,19,NULL,NULL,NULL),(48006,'NCBI Gene PubMed Count',NULL,19050,NULL,NULL,NULL,7,NULL,NULL,NULL),(48007,'NCBI Gene PubMed Count',NULL,19051,NULL,NULL,NULL,17,NULL,NULL,NULL),(48008,'NCBI Gene Summary',NULL,19052,NULL,'The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(48009,'NCBI Gene PubMed Count',NULL,19052,NULL,NULL,NULL,17,NULL,NULL,NULL),(48010,'NCBI Gene Summary',NULL,19053,NULL,'The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(48011,'NCBI Gene PubMed Count',NULL,19053,NULL,NULL,NULL,12,NULL,NULL,NULL),(48012,'NCBI Gene Summary',NULL,19054,NULL,'The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48013,'NCBI Gene PubMed Count',NULL,19054,NULL,NULL,NULL,27,NULL,NULL,NULL),(48014,'NCBI Gene Summary',NULL,19055,NULL,'Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48015,'NCBI Gene PubMed Count',NULL,19055,NULL,NULL,NULL,90,NULL,NULL,NULL),(48016,'NCBI Gene PubMed Count',NULL,19056,NULL,NULL,NULL,9,NULL,NULL,NULL),(48017,'NCBI Gene Summary',NULL,19057,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(48018,'NCBI Gene PubMed Count',NULL,19057,NULL,NULL,NULL,24,NULL,NULL,NULL),(48019,'NCBI Gene PubMed Count',NULL,19058,NULL,NULL,NULL,13,NULL,NULL,NULL),(48020,'NCBI Gene PubMed Count',NULL,19059,NULL,NULL,NULL,18,NULL,NULL,NULL),(48021,'NCBI Gene Summary',NULL,19060,NULL,'This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(48022,'NCBI Gene PubMed Count',NULL,19060,NULL,NULL,NULL,27,NULL,NULL,NULL),(48023,'NCBI Gene Summary',NULL,19061,NULL,'This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(48024,'NCBI Gene PubMed Count',NULL,19061,NULL,NULL,NULL,55,NULL,NULL,NULL),(48025,'NCBI Gene PubMed Count',NULL,19062,NULL,NULL,NULL,3,NULL,NULL,NULL),(48026,'NCBI Gene PubMed Count',NULL,19063,NULL,NULL,NULL,7,NULL,NULL,NULL),(48027,'NCBI Gene Summary',NULL,19064,NULL,'This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]',NULL,NULL,NULL,NULL,NULL),(48028,'NCBI Gene PubMed Count',NULL,19064,NULL,NULL,NULL,30,NULL,NULL,NULL),(48029,'NCBI Gene Summary',NULL,19065,NULL,'This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48030,'NCBI Gene PubMed Count',NULL,19065,NULL,NULL,NULL,113,NULL,NULL,NULL),(48031,'NCBI Gene PubMed Count',NULL,19066,NULL,NULL,NULL,7,NULL,NULL,NULL),(48032,'NCBI Gene PubMed Count',NULL,19067,NULL,NULL,NULL,13,NULL,NULL,NULL),(48033,'NCBI Gene Summary',NULL,19068,NULL,'This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3\' exons from the ZP3 gene. The 5\' end of this gene is similar to the 5` coding region of the POM121 gene which encodes an integral nuclear pore membrane protein. However, the protein encoded by this gene lacks the nuclear pore localization motif. The 3\' end of this gene is similar to the last 4 exons of the zona pellucida glycoprotein 3 (ZP3) gene and the encoded protein retains one zona pellucida domain. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48034,'NCBI Gene PubMed Count',NULL,19068,NULL,NULL,NULL,4,NULL,NULL,NULL),(48035,'NCBI Gene PubMed Count',NULL,19069,NULL,NULL,NULL,14,NULL,NULL,NULL),(48036,'NCBI Gene PubMed Count',NULL,19070,NULL,NULL,NULL,37,NULL,NULL,NULL),(48037,'NCBI Gene Summary',NULL,19071,NULL,'N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(48038,'NCBI Gene PubMed Count',NULL,19071,NULL,NULL,NULL,31,NULL,NULL,NULL),(48039,'NCBI Gene Summary',NULL,19072,NULL,'The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(48040,'NCBI Gene PubMed Count',NULL,19072,NULL,NULL,NULL,19,NULL,NULL,NULL),(48041,'NCBI Gene Summary',NULL,19073,NULL,'The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(48042,'NCBI Gene PubMed Count',NULL,19073,NULL,NULL,NULL,12,NULL,NULL,NULL),(48043,'NCBI Gene PubMed Count',NULL,19074,NULL,NULL,NULL,16,NULL,NULL,NULL),(48044,'NCBI Gene PubMed Count',NULL,19075,NULL,NULL,NULL,12,NULL,NULL,NULL),(48045,'NCBI Gene Summary',NULL,19076,NULL,'This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5\' deoxyribonucleotides (dNTP) and 2\'(3\')-dNTP and ribonucleotides, but not 5\' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5\'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(48046,'NCBI Gene PubMed Count',NULL,19076,NULL,NULL,NULL,18,NULL,NULL,NULL),(48047,'NCBI Gene Summary',NULL,19077,NULL,'This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(48048,'NCBI Gene PubMed Count',NULL,19077,NULL,NULL,NULL,37,NULL,NULL,NULL),(48049,'NCBI Gene PubMed Count',NULL,19078,NULL,NULL,NULL,8,NULL,NULL,NULL),(48050,'NCBI Gene PubMed Count',NULL,19079,NULL,NULL,NULL,8,NULL,NULL,NULL),(48051,'NCBI Gene Summary',NULL,19080,NULL,'The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48052,'NCBI Gene PubMed Count',NULL,19080,NULL,NULL,NULL,160,NULL,NULL,NULL),(48053,'NCBI Gene Summary',NULL,19081,NULL,'This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48054,'NCBI Gene PubMed Count',NULL,19081,NULL,NULL,NULL,32,NULL,NULL,NULL),(48055,'NCBI Gene Summary',NULL,19082,NULL,'The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(48056,'NCBI Gene PubMed Count',NULL,19082,NULL,NULL,NULL,26,NULL,NULL,NULL),(48057,'NCBI Gene Summary',NULL,19083,NULL,'This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(48058,'NCBI Gene PubMed Count',NULL,19083,NULL,NULL,NULL,12,NULL,NULL,NULL),(48059,'NCBI Gene PubMed Count',NULL,19084,NULL,NULL,NULL,7,NULL,NULL,NULL),(48060,'NCBI Gene Summary',NULL,19085,NULL,'This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(48061,'NCBI Gene PubMed Count',NULL,19085,NULL,NULL,NULL,27,NULL,NULL,NULL),(48062,'NCBI Gene Summary',NULL,19086,NULL,'This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(48063,'NCBI Gene PubMed Count',NULL,19086,NULL,NULL,NULL,278,NULL,NULL,NULL),(48064,'NCBI Gene Summary',NULL,19087,NULL,'Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(48065,'NCBI Gene PubMed Count',NULL,19087,NULL,NULL,NULL,32,NULL,NULL,NULL),(48066,'NCBI Gene Summary',NULL,19088,NULL,'The protein encoded by this gene belongs to the CTF/NF-I family. These are dimeric DNA-binding proteins, and function as cellular transcription factors and as replication factors for adenovirus DNA replication. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(48067,'NCBI Gene PubMed Count',NULL,19088,NULL,NULL,NULL,42,NULL,NULL,NULL),(48068,'NCBI Gene Summary',NULL,19089,NULL,'This gene encodes a protein that belongs to the lipocalin family. Members of this family transport small hydrophobic molecules such as lipids, steroid hormones and retinoids. The protein encoded by this gene is a neutrophil gelatinase-associated lipocalin and plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores. The presence of this protein in blood and urine is an early biomarker of acute kidney injury. This protein is thought to be be involved in multiple cellular processes, including maintenance of skin homeostasis, and suppression of invasiveness and metastasis. Mice lacking this gene are more susceptible to bacterial infection than wild type mice. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(48069,'NCBI Gene PubMed Count',NULL,19089,NULL,NULL,NULL,633,NULL,NULL,NULL),(48070,'NCBI Gene PubMed Count',NULL,19090,NULL,NULL,NULL,6,NULL,NULL,NULL),(48071,'NCBI Gene Summary',NULL,19091,NULL,'This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(48072,'NCBI Gene PubMed Count',NULL,19091,NULL,NULL,NULL,281,NULL,NULL,NULL),(48073,'NCBI Gene PubMed Count',NULL,19092,NULL,NULL,NULL,13,NULL,NULL,NULL),(48074,'NCBI Gene Summary',NULL,19093,NULL,'This gene encodes a member of the FMRFamide related peptide (FARP) family of neuropeptides. The encoded preproprotein is proteolytically processed to generate multiple amidated peptides. These peptides may play a role in the regulation of heart rate and blood pressure and the modulation of morphine-induced antinociception. Patients with hypertension exhibit decreased expression of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(48075,'NCBI Gene PubMed Count',NULL,19093,NULL,NULL,NULL,21,NULL,NULL,NULL),(48076,'NCBI Gene PubMed Count',NULL,19094,NULL,NULL,NULL,1,NULL,NULL,NULL),(48077,'NCBI Gene Summary',NULL,19095,NULL,'This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(48078,'NCBI Gene PubMed Count',NULL,19095,NULL,NULL,NULL,10,NULL,NULL,NULL),(48079,'NCBI Gene PubMed Count',NULL,19096,NULL,NULL,NULL,16,NULL,NULL,NULL),(48080,'NCBI Gene Summary',NULL,19097,NULL,'This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(48081,'NCBI Gene PubMed Count',NULL,19097,NULL,NULL,NULL,16,NULL,NULL,NULL),(48082,'NCBI Gene Summary',NULL,19098,NULL,'This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3\' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(48083,'NCBI Gene PubMed Count',NULL,19098,NULL,NULL,NULL,123,NULL,NULL,NULL),(48084,'NCBI Gene PubMed Count',NULL,19099,NULL,NULL,NULL,6,NULL,NULL,NULL),(48085,'NCBI Gene Summary',NULL,19100,NULL,'This gene encodes a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48086,'NCBI Gene PubMed Count',NULL,19100,NULL,NULL,NULL,284,NULL,NULL,NULL),(48087,'NCBI Gene Summary',NULL,19101,NULL,'This gene is a member of the nudix (nucleoside diphosphate linked moiety X)-type motif containing family. The encoded protein is a phosphohydrolase and may regulate the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to the regulation of intracellular trafficking. In some populations putative prostate cancer susceptibility alleles have been identified for this gene. Alternatively spliced transcript variants, which differ only in the 5\' UTR, have been found for this gene. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(48088,'NCBI Gene PubMed Count',NULL,19101,NULL,NULL,NULL,14,NULL,NULL,NULL),(48089,'NCBI Gene PubMed Count',NULL,19102,NULL,NULL,NULL,14,NULL,NULL,NULL),(48090,'NCBI Gene PubMed Count',NULL,19103,NULL,NULL,NULL,15,NULL,NULL,NULL),(48091,'NCBI Gene Summary',NULL,19104,NULL,'The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This enzyme contains a Nudix hydrolase domain and is a UDPG pyrophosphatase that hydrolyzes UDPG to produce glucose 1-phosphate and UMP. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(48092,'NCBI Gene PubMed Count',NULL,19104,NULL,NULL,NULL,11,NULL,NULL,NULL),(48093,'NCBI Gene Summary',NULL,19105,NULL,'This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(48094,'NCBI Gene PubMed Count',NULL,19105,NULL,NULL,NULL,5,NULL,NULL,NULL),(48095,'NCBI Gene Summary',NULL,19106,NULL,'This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48096,'NCBI Gene PubMed Count',NULL,19106,NULL,NULL,NULL,426,NULL,NULL,NULL),(48097,'NCBI Gene Summary',NULL,19107,NULL,'This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48098,'NCBI Gene PubMed Count',NULL,19107,NULL,NULL,NULL,54,NULL,NULL,NULL),(48099,'NCBI Gene PubMed Count',NULL,19108,NULL,NULL,NULL,3,NULL,NULL,NULL),(48100,'NCBI Gene PubMed Count',NULL,19109,NULL,NULL,NULL,5,NULL,NULL,NULL),(48101,'NCBI Gene Summary',NULL,19110,NULL,'This protein encoded by this gene localizes to the nucleus and is expressed in numerous tissues including brain, testis, liver, and kidney. This refseq contains genomic sequence in its 3\' UTR which is not supported by experimental evidence. Computer predictions indicate that this region of the 3\' UTR contains hairpin-forming self-complementary sequence which is possibly excised after transcription. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48102,'NCBI Gene PubMed Count',NULL,19110,NULL,NULL,NULL,8,NULL,NULL,NULL),(48103,'NCBI Gene Summary',NULL,19111,NULL,'This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(48104,'NCBI Gene PubMed Count',NULL,19111,NULL,NULL,NULL,51,NULL,NULL,NULL),(48105,'NCBI Gene Summary',NULL,19112,NULL,'This gene encodes one subunit of a trimeric complex forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoters of a variety of genes. The encoded protein, subunit C, forms a tight dimer with the B subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(48106,'NCBI Gene PubMed Count',NULL,19112,NULL,NULL,NULL,40,NULL,NULL,NULL),(48107,'NCBI Gene Summary',NULL,19113,NULL,'This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(48108,'NCBI Gene PubMed Count',NULL,19113,NULL,NULL,NULL,30,NULL,NULL,NULL),(48109,'NCBI Gene Summary',NULL,19114,NULL,'This gene belongs to a gene family of tachykinin receptors. These tachykinin receptors are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. The encoded protein is also involved in the mediation of phosphatidylinositol metabolism of substance P. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(48110,'NCBI Gene PubMed Count',NULL,19114,NULL,NULL,NULL,185,NULL,NULL,NULL),(48111,'NCBI Gene Summary',NULL,19115,NULL,'This gene belongs to a family of genes that function as receptors for tachykinins.  Receptor affinities are specified by variations in the 5\'-end of the sequence.  The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions.  This gene encodes the receptor for the tachykinin neuropeptide substance K, also referred to as neurokinin A. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48112,'NCBI Gene PubMed Count',NULL,19115,NULL,NULL,NULL,52,NULL,NULL,NULL),(48113,'NCBI Gene PubMed Count',NULL,19116,NULL,NULL,NULL,72,NULL,NULL,NULL),(48114,'NCBI Gene PubMed Count',NULL,19117,NULL,NULL,NULL,7,NULL,NULL,NULL),(48115,'NCBI Gene PubMed Count',NULL,19118,NULL,NULL,NULL,8,NULL,NULL,NULL),(48116,'NCBI Gene PubMed Count',NULL,19119,NULL,NULL,NULL,6,NULL,NULL,NULL),(48117,'NCBI Gene PubMed Count',NULL,19120,NULL,NULL,NULL,11,NULL,NULL,NULL),(48118,'NCBI Gene Summary',NULL,19121,NULL,'This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48119,'NCBI Gene PubMed Count',NULL,19121,NULL,NULL,NULL,80,NULL,NULL,NULL),(48120,'NCBI Gene Summary',NULL,19122,NULL,'The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48121,'NCBI Gene PubMed Count',NULL,19122,NULL,NULL,NULL,8,NULL,NULL,NULL),(48122,'NCBI Gene Summary',NULL,19123,NULL,'The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(48123,'NCBI Gene PubMed Count',NULL,19123,NULL,NULL,NULL,16,NULL,NULL,NULL),(48124,'NCBI Gene Summary',NULL,19124,NULL,'This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(48125,'NCBI Gene PubMed Count',NULL,19124,NULL,NULL,NULL,32,NULL,NULL,NULL),(48126,'NCBI Gene PubMed Count',NULL,19125,NULL,NULL,NULL,27,NULL,NULL,NULL),(48127,'NCBI Gene Summary',NULL,19126,NULL,'The function of the encoded protein is not known. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(48128,'NCBI Gene PubMed Count',NULL,19126,NULL,NULL,NULL,22,NULL,NULL,NULL),(48129,'NCBI Gene PubMed Count',NULL,19127,NULL,NULL,NULL,1,NULL,NULL,NULL),(48130,'NCBI Gene Summary',NULL,19128,NULL,'This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5\' UTR have been found for this gene.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(48131,'NCBI Gene PubMed Count',NULL,19128,NULL,NULL,NULL,20,NULL,NULL,NULL),(48132,'NCBI Gene PubMed Count',NULL,19129,NULL,NULL,NULL,1,NULL,NULL,NULL),(48133,'NCBI Gene Summary',NULL,19130,NULL,'This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein\'s enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer\'s disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48134,'NCBI Gene PubMed Count',NULL,19130,NULL,NULL,NULL,529,NULL,NULL,NULL),(48135,'NCBI Gene PubMed Count',NULL,19131,NULL,NULL,NULL,5,NULL,NULL,NULL),(48136,'NCBI Gene Summary',NULL,19132,NULL,'This gene encodes a neuropeptide that is widely expressed in the central nervous system and influences many physiological processes, including cortical excitability, stress response, food intake, circadian rhythms, and cardiovascular function. The neuropeptide functions through G protein-coupled receptors to inhibit adenylyl cyclase, activate mitogen-activated protein kinase (MAPK), regulate intracellular calcium levels, and activate potassium channels. A polymorphism in this gene resulting in a change of leucine 7 to proline in the signal peptide is associated with elevated cholesterol levels, higher alcohol consumption, and may be a risk factor for various metabolic and cardiovascular diseases. The protein also exhibits antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(48137,'NCBI Gene PubMed Count',NULL,19132,NULL,NULL,NULL,299,NULL,NULL,NULL),(48138,'NCBI Gene Summary',NULL,19133,NULL,'This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(48139,'NCBI Gene PubMed Count',NULL,19133,NULL,NULL,NULL,17,NULL,NULL,NULL),(48140,'NCBI Gene PubMed Count',NULL,19134,NULL,NULL,NULL,1,NULL,NULL,NULL),(48141,'NCBI Gene Summary',NULL,19135,NULL,'The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48142,'NCBI Gene PubMed Count',NULL,19135,NULL,NULL,NULL,13,NULL,NULL,NULL),(48143,'NCBI Gene PubMed Count',NULL,19136,NULL,NULL,NULL,18,NULL,NULL,NULL),(48144,'NCBI Gene Summary',NULL,19137,NULL,'This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(48145,'NCBI Gene PubMed Count',NULL,19137,NULL,NULL,NULL,29,NULL,NULL,NULL),(48146,'NCBI Gene PubMed Count',NULL,19138,NULL,NULL,NULL,6,NULL,NULL,NULL),(48147,'NCBI Gene Summary',NULL,19139,NULL,'The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(48148,'NCBI Gene PubMed Count',NULL,19139,NULL,NULL,NULL,58,NULL,NULL,NULL),(48149,'NCBI Gene Summary',NULL,19140,NULL,'This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(48150,'NCBI Gene PubMed Count',NULL,19140,NULL,NULL,NULL,33,NULL,NULL,NULL),(48151,'NCBI Gene Summary',NULL,19141,NULL,'The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(48152,'NCBI Gene PubMed Count',NULL,19141,NULL,NULL,NULL,458,NULL,NULL,NULL),(48153,'NCBI Gene Summary',NULL,19142,NULL,'This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(48154,'NCBI Gene PubMed Count',NULL,19142,NULL,NULL,NULL,44,NULL,NULL,NULL),(48155,'NCBI Gene Summary',NULL,19143,NULL,'This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(48156,'NCBI Gene PubMed Count',NULL,19143,NULL,NULL,NULL,20,NULL,NULL,NULL),(48157,'NCBI Gene PubMed Count',NULL,19144,NULL,NULL,NULL,2,NULL,NULL,NULL),(48158,'NCBI Gene PubMed Count',NULL,19145,NULL,NULL,NULL,1,NULL,NULL,NULL),(48159,'NCBI Gene PubMed Count',NULL,19146,NULL,NULL,NULL,8,NULL,NULL,NULL),(48160,'NCBI Gene PubMed Count',NULL,19147,NULL,NULL,NULL,4,NULL,NULL,NULL),(48161,'NCBI Gene PubMed Count',NULL,19148,NULL,NULL,NULL,4,NULL,NULL,NULL),(48162,'NCBI Gene PubMed Count',NULL,19149,NULL,NULL,NULL,6,NULL,NULL,NULL),(48163,'NCBI Gene PubMed Count',NULL,19150,NULL,NULL,NULL,11,NULL,NULL,NULL),(48164,'NCBI Gene Summary',NULL,19151,NULL,'This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(48165,'NCBI Gene PubMed Count',NULL,19151,NULL,NULL,NULL,16,NULL,NULL,NULL),(48166,'NCBI Gene Summary',NULL,19152,NULL,'This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3\' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(48167,'NCBI Gene PubMed Count',NULL,19152,NULL,NULL,NULL,16,NULL,NULL,NULL),(48168,'NCBI Gene Summary',NULL,19153,NULL,'There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48169,'NCBI Gene PubMed Count',NULL,19153,NULL,NULL,NULL,38,NULL,NULL,NULL),(48170,'NCBI Gene Summary',NULL,19154,NULL,'The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48171,'NCBI Gene PubMed Count',NULL,19154,NULL,NULL,NULL,13,NULL,NULL,NULL),(48172,'NCBI Gene Summary',NULL,19155,NULL,'The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein is widely distributed among animals and cleaves DNA at GC tracts. This protein is capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48173,'NCBI Gene PubMed Count',NULL,19155,NULL,NULL,NULL,45,NULL,NULL,NULL),(48174,'NCBI Gene Summary',NULL,19156,NULL,'This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin ligase listerin. A similar protein in fly functions as a tumor suppressor. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(48175,'NCBI Gene PubMed Count',NULL,19156,NULL,NULL,NULL,13,NULL,NULL,NULL),(48176,'NCBI Gene Summary',NULL,19157,NULL,'This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48177,'NCBI Gene PubMed Count',NULL,19157,NULL,NULL,NULL,22,NULL,NULL,NULL),(48178,'NCBI Gene Summary',NULL,19158,NULL,'This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include nociceptin, nocistatin, and orphanin FQ2 (OFQ2). Nociceptin, also known as orphanin FQ, is a 17-amino acid neuropeptide that binds to the nociceptin receptor to induce increased pain sensitivity, and may additionally regulate body temperature, learning and memory, and hunger. Another product of the encoded preproprotein, nocistatin, may inhibit the effects of nociceptin. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(48179,'NCBI Gene PubMed Count',NULL,19158,NULL,NULL,NULL,100,NULL,NULL,NULL),(48180,'NCBI Gene Summary',NULL,19159,NULL,'This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48181,'NCBI Gene PubMed Count',NULL,19159,NULL,NULL,NULL,18,NULL,NULL,NULL),(48182,'NCBI Gene PubMed Count',NULL,19160,NULL,NULL,NULL,13,NULL,NULL,NULL),(48183,'NCBI Gene Summary',NULL,19161,NULL,'This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48184,'NCBI Gene PubMed Count',NULL,19161,NULL,NULL,NULL,10,NULL,NULL,NULL),(48185,'NCBI Gene Summary',NULL,19162,NULL,'This gene encodes an RNA-binding protein which plays various roles in the nucleus, including transcriptional regulation and RNA splicing. A rearrangement between this gene and the transcription factor E3 gene has been observed in papillary renal cell carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes exist on Chromosomes 2 and 16. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(48186,'NCBI Gene PubMed Count',NULL,19162,NULL,NULL,NULL,95,NULL,NULL,NULL),(48187,'NCBI Gene PubMed Count',NULL,19163,NULL,NULL,NULL,47,NULL,NULL,NULL),(48188,'NCBI Gene Summary',NULL,19164,NULL,'This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48189,'NCBI Gene PubMed Count',NULL,19164,NULL,NULL,NULL,343,NULL,NULL,NULL),(48190,'NCBI Gene Summary',NULL,19165,NULL,'NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48191,'NCBI Gene PubMed Count',NULL,19165,NULL,NULL,NULL,10,NULL,NULL,NULL),(48192,'NCBI Gene Summary',NULL,19166,NULL,'This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(48193,'NCBI Gene PubMed Count',NULL,19166,NULL,NULL,NULL,134,NULL,NULL,NULL),(48194,'NCBI Gene Summary',NULL,19167,NULL,'The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(48195,'NCBI Gene PubMed Count',NULL,19167,NULL,NULL,NULL,609,NULL,NULL,NULL),(48196,'NCBI Gene PubMed Count',NULL,19168,NULL,NULL,NULL,1,NULL,NULL,NULL),(48197,'NCBI Gene PubMed Count',NULL,19169,NULL,NULL,NULL,34,NULL,NULL,NULL),(48198,'NCBI Gene PubMed Count',NULL,19170,NULL,NULL,NULL,2,NULL,NULL,NULL),(48199,'NCBI Gene PubMed Count',NULL,19171,NULL,NULL,NULL,1,NULL,NULL,NULL),(48200,'NCBI Gene PubMed Count',NULL,19172,NULL,NULL,NULL,2,NULL,NULL,NULL),(48201,'NCBI Gene Summary',NULL,19173,NULL,'This gene encodes a member of the vasopressin/oxytocin subfamily of G protein-coupled receptors. The encoded membrane protein acts as a receptor for neuropeptide S and affects a variety of cellular processes through its signaling. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this gene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(48202,'NCBI Gene PubMed Count',NULL,19173,NULL,NULL,NULL,89,NULL,NULL,NULL),(48203,'NCBI Gene Summary',NULL,19174,NULL,'This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48204,'NCBI Gene PubMed Count',NULL,19174,NULL,NULL,NULL,15,NULL,NULL,NULL),(48205,'NCBI Gene Summary',NULL,19175,NULL,'This gene belongs to the G-protein-coupled receptor superfamily. The encoded transmembrane protein mediates the function of neuropeptide Y (NPY), a neurotransmitter, and peptide YY (PYY), a gastrointestinal hormone. The encoded receptor undergoes fast agonist-induced internalization through clathrin-coated pits and is subsequently recycled back to the cell membrane. Activation of Y1 receptors may result in mobilization of intracellular calcium and inhibition of adenylate cyclase activity. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(48206,'NCBI Gene PubMed Count',NULL,19175,NULL,NULL,NULL,75,NULL,NULL,NULL),(48207,'NCBI Gene Summary',NULL,19176,NULL,'The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5\' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(48208,'NCBI Gene PubMed Count',NULL,19176,NULL,NULL,NULL,25,NULL,NULL,NULL),(48209,'NCBI Gene Summary',NULL,19177,NULL,'The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(48210,'NCBI Gene PubMed Count',NULL,19177,NULL,NULL,NULL,40,NULL,NULL,NULL),(48211,'NCBI Gene Summary',NULL,19178,NULL,'This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(48212,'NCBI Gene PubMed Count',NULL,19178,NULL,NULL,NULL,39,NULL,NULL,NULL),(48213,'NCBI Gene Summary',NULL,19179,NULL,'This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48214,'NCBI Gene PubMed Count',NULL,19179,NULL,NULL,NULL,16,NULL,NULL,NULL),(48215,'NCBI Gene Summary',NULL,19180,NULL,'This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for \"nuclear factor (erythroid-derived 2)-like 1\" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(48216,'NCBI Gene PubMed Count',NULL,19180,NULL,NULL,NULL,80,NULL,NULL,NULL),(48217,'NCBI Gene Summary',NULL,19181,NULL,'This gene encodes a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ERBB family of receptors, this protein induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1, another member of the neuregulin family of ligands. The products of these genes mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. This gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcript variants encoding distinct isoforms have been described. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(48218,'NCBI Gene PubMed Count',NULL,19181,NULL,NULL,NULL,17,NULL,NULL,NULL),(48219,'NCBI Gene Summary',NULL,19182,NULL,'The protein encoded by this gene is extracellular and enhances both neurite growth and neuronal survival. The encoded protein is found both as a GPI anchored membrane-bound form and as a secreted form. This activity-related ligand functions as a homodimer or heterodimer. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(48220,'NCBI Gene PubMed Count',NULL,19182,NULL,NULL,NULL,6,NULL,NULL,NULL),(48221,'NCBI Gene PubMed Count',NULL,19183,NULL,NULL,NULL,13,NULL,NULL,NULL),(48222,'NCBI Gene Summary',NULL,19184,NULL,'Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48223,'NCBI Gene PubMed Count',NULL,19184,NULL,NULL,NULL,11,NULL,NULL,NULL),(48224,'NCBI Gene PubMed Count',NULL,19185,NULL,NULL,NULL,9,NULL,NULL,NULL),(48225,'NCBI Gene Summary',NULL,19186,NULL,'This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing, and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(48226,'NCBI Gene PubMed Count',NULL,19186,NULL,NULL,NULL,281,NULL,NULL,NULL),(48227,'NCBI Gene Summary',NULL,19187,NULL,'This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(48228,'NCBI Gene PubMed Count',NULL,19187,NULL,NULL,NULL,55,NULL,NULL,NULL),(48229,'NCBI Gene PubMed Count',NULL,19188,NULL,NULL,NULL,6,NULL,NULL,NULL),(48230,'NCBI Gene Summary',NULL,19189,NULL,'The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(48231,'NCBI Gene PubMed Count',NULL,19189,NULL,NULL,NULL,42,NULL,NULL,NULL),(48232,'NCBI Gene PubMed Count',NULL,19190,NULL,NULL,NULL,10,NULL,NULL,NULL),(48233,'NCBI Gene PubMed Count',NULL,19191,NULL,NULL,NULL,9,NULL,NULL,NULL),(48234,'NCBI Gene Summary',NULL,19192,NULL,'This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(48235,'NCBI Gene PubMed Count',NULL,19192,NULL,NULL,NULL,51,NULL,NULL,NULL),(48236,'NCBI Gene Summary',NULL,19193,NULL,'This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(48237,'NCBI Gene PubMed Count',NULL,19193,NULL,NULL,NULL,58,NULL,NULL,NULL),(48238,'NCBI Gene PubMed Count',NULL,19194,NULL,NULL,NULL,5,NULL,NULL,NULL),(48239,'NCBI Gene Summary',NULL,19195,NULL,'The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(48240,'NCBI Gene PubMed Count',NULL,19195,NULL,NULL,NULL,15,NULL,NULL,NULL),(48241,'NCBI Gene PubMed Count',NULL,19196,NULL,NULL,NULL,10,NULL,NULL,NULL),(48242,'NCBI Gene PubMed Count',NULL,19197,NULL,NULL,NULL,6,NULL,NULL,NULL),(48243,'NCBI Gene PubMed Count',NULL,19198,NULL,NULL,NULL,6,NULL,NULL,NULL),(48244,'NCBI Gene Summary',NULL,19199,NULL,'The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(48245,'NCBI Gene PubMed Count',NULL,19199,NULL,NULL,NULL,7,NULL,NULL,NULL),(48246,'NCBI Gene PubMed Count',NULL,19200,NULL,NULL,NULL,5,NULL,NULL,NULL),(48247,'NCBI Gene PubMed Count',NULL,19201,NULL,NULL,NULL,100,NULL,NULL,NULL),(48248,'NCBI Gene PubMed Count',NULL,19202,NULL,NULL,NULL,6,NULL,NULL,NULL),(48249,'NCBI Gene PubMed Count',NULL,19203,NULL,NULL,NULL,7,NULL,NULL,NULL),(48250,'NCBI Gene PubMed Count',NULL,19204,NULL,NULL,NULL,3,NULL,NULL,NULL),(48251,'NCBI Gene PubMed Count',NULL,19205,NULL,NULL,NULL,8,NULL,NULL,NULL),(48252,'NCBI Gene PubMed Count',NULL,19206,NULL,NULL,NULL,7,NULL,NULL,NULL),(48253,'NCBI Gene Summary',NULL,19207,NULL,'This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(48254,'NCBI Gene PubMed Count',NULL,19207,NULL,NULL,NULL,16,NULL,NULL,NULL),(48255,'NCBI Gene Summary',NULL,19208,NULL,'Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade.  Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48256,'NCBI Gene PubMed Count',NULL,19208,NULL,NULL,NULL,47,NULL,NULL,NULL),(48257,'NCBI Gene Summary',NULL,19209,NULL,'Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48258,'NCBI Gene PubMed Count',NULL,19209,NULL,NULL,NULL,11,NULL,NULL,NULL),(48259,'NCBI Gene Summary',NULL,19210,NULL,'The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018]',NULL,NULL,NULL,NULL,NULL),(48260,'NCBI Gene PubMed Count',NULL,19210,NULL,NULL,NULL,145,NULL,NULL,NULL),(48261,'NCBI Gene Summary',NULL,19211,NULL,'The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(48262,'NCBI Gene PubMed Count',NULL,19211,NULL,NULL,NULL,69,NULL,NULL,NULL),(48263,'NCBI Gene Summary',NULL,19212,NULL,'The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(48264,'NCBI Gene PubMed Count',NULL,19212,NULL,NULL,NULL,131,NULL,NULL,NULL),(48265,'NCBI Gene PubMed Count',NULL,19213,NULL,NULL,NULL,10,NULL,NULL,NULL),(48266,'NCBI Gene PubMed Count',NULL,19214,NULL,NULL,NULL,24,NULL,NULL,NULL),(48267,'NCBI Gene PubMed Count',NULL,19215,NULL,NULL,NULL,3,NULL,NULL,NULL),(48268,'NCBI Gene PubMed Count',NULL,19216,NULL,NULL,NULL,37,NULL,NULL,NULL),(48269,'NCBI Gene PubMed Count',NULL,19217,NULL,NULL,NULL,7,NULL,NULL,NULL),(48270,'NCBI Gene Summary',NULL,19218,NULL,'This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(48271,'NCBI Gene PubMed Count',NULL,19218,NULL,NULL,NULL,14,NULL,NULL,NULL),(48272,'NCBI Gene PubMed Count',NULL,19219,NULL,NULL,NULL,6,NULL,NULL,NULL),(48273,'NCBI Gene PubMed Count',NULL,19220,NULL,NULL,NULL,4,NULL,NULL,NULL),(48274,'NCBI Gene PubMed Count',NULL,19221,NULL,NULL,NULL,8,NULL,NULL,NULL),(48275,'NCBI Gene PubMed Count',NULL,19222,NULL,NULL,NULL,4,NULL,NULL,NULL),(48276,'NCBI Gene PubMed Count',NULL,19223,NULL,NULL,NULL,1,NULL,NULL,NULL),(48277,'NCBI Gene Summary',NULL,19224,NULL,'This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(48278,'NCBI Gene PubMed Count',NULL,19224,NULL,NULL,NULL,34,NULL,NULL,NULL),(48279,'NCBI Gene Summary',NULL,19225,NULL,'This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48280,'NCBI Gene PubMed Count',NULL,19225,NULL,NULL,NULL,47,NULL,NULL,NULL),(48281,'NCBI Gene Summary',NULL,19226,NULL,'This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48282,'NCBI Gene PubMed Count',NULL,19226,NULL,NULL,NULL,29,NULL,NULL,NULL),(48283,'NCBI Gene Summary',NULL,19227,NULL,'This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48284,'NCBI Gene PubMed Count',NULL,19227,NULL,NULL,NULL,73,NULL,NULL,NULL),(48285,'NCBI Gene Summary',NULL,19228,NULL,'Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(48286,'NCBI Gene PubMed Count',NULL,19228,NULL,NULL,NULL,365,NULL,NULL,NULL),(48287,'NCBI Gene Summary',NULL,19229,NULL,'This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48288,'NCBI Gene PubMed Count',NULL,19229,NULL,NULL,NULL,40,NULL,NULL,NULL),(48289,'NCBI Gene Summary',NULL,19230,NULL,'This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(48290,'NCBI Gene PubMed Count',NULL,19230,NULL,NULL,NULL,30,NULL,NULL,NULL),(48291,'NCBI Gene Summary',NULL,19231,NULL,'Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48292,'NCBI Gene PubMed Count',NULL,19231,NULL,NULL,NULL,98,NULL,NULL,NULL),(48293,'NCBI Gene Summary',NULL,19232,NULL,'Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(48294,'NCBI Gene PubMed Count',NULL,19232,NULL,NULL,NULL,44,NULL,NULL,NULL),(48295,'NCBI Gene Summary',NULL,19233,NULL,'MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48296,'NCBI Gene PubMed Count',NULL,19233,NULL,NULL,NULL,23,NULL,NULL,NULL),(48297,'NCBI Gene PubMed Count',NULL,19234,NULL,NULL,NULL,9,NULL,NULL,NULL),(48298,'NCBI Gene Summary',NULL,19235,NULL,'Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48299,'NCBI Gene PubMed Count',NULL,19235,NULL,NULL,NULL,64,NULL,NULL,NULL),(48300,'NCBI Gene Summary',NULL,19236,NULL,'The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(48301,'NCBI Gene PubMed Count',NULL,19236,NULL,NULL,NULL,11,NULL,NULL,NULL),(48302,'NCBI Gene Summary',NULL,19237,NULL,'The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(48303,'NCBI Gene PubMed Count',NULL,19237,NULL,NULL,NULL,29,NULL,NULL,NULL),(48304,'NCBI Gene PubMed Count',NULL,19238,NULL,NULL,NULL,8,NULL,NULL,NULL),(48305,'NCBI Gene Summary',NULL,19239,NULL,'Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(48306,'NCBI Gene PubMed Count',NULL,19239,NULL,NULL,NULL,29,NULL,NULL,NULL),(48307,'NCBI Gene PubMed Count',NULL,19240,NULL,NULL,NULL,16,NULL,NULL,NULL),(48308,'NCBI Gene Summary',NULL,19241,NULL,'This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(48309,'NCBI Gene PubMed Count',NULL,19241,NULL,NULL,NULL,13,NULL,NULL,NULL),(48310,'NCBI Gene Summary',NULL,19242,NULL,'SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(48311,'NCBI Gene PubMed Count',NULL,19242,NULL,NULL,NULL,19,NULL,NULL,NULL),(48312,'NCBI Gene PubMed Count',NULL,19243,NULL,NULL,NULL,15,NULL,NULL,NULL),(48313,'NCBI Gene Summary',NULL,19244,NULL,'This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(48314,'NCBI Gene PubMed Count',NULL,19244,NULL,NULL,NULL,28,NULL,NULL,NULL),(48315,'NCBI Gene PubMed Count',NULL,19245,NULL,NULL,NULL,14,NULL,NULL,NULL),(48316,'NCBI Gene PubMed Count',NULL,19246,NULL,NULL,NULL,5,NULL,NULL,NULL),(48317,'NCBI Gene Summary',NULL,19247,NULL,'This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(48318,'NCBI Gene PubMed Count',NULL,19247,NULL,NULL,NULL,11,NULL,NULL,NULL),(48319,'NCBI Gene Summary',NULL,19248,NULL,'Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(48320,'NCBI Gene PubMed Count',NULL,19248,NULL,NULL,NULL,18,NULL,NULL,NULL),(48321,'NCBI Gene Summary',NULL,19249,NULL,'This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48322,'NCBI Gene PubMed Count',NULL,19249,NULL,NULL,NULL,43,NULL,NULL,NULL),(48323,'NCBI Gene Summary',NULL,19250,NULL,'The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(48324,'NCBI Gene PubMed Count',NULL,19250,NULL,NULL,NULL,15,NULL,NULL,NULL),(48325,'NCBI Gene PubMed Count',NULL,19251,NULL,NULL,NULL,5,NULL,NULL,NULL),(48326,'NCBI Gene PubMed Count',NULL,19252,NULL,NULL,NULL,5,NULL,NULL,NULL),(48327,'NCBI Gene Summary',NULL,19253,NULL,'This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. In human HeLa-S3 and 293T cells, this protein is localized to the cytoplasm during interphase, to the spindle poles and spindle microtubules during mitosis, and to the midbody during cytokinesis. An internal motor domain displays microtubule-dependent ATPase activity, consistent with its function as a microtubule motor protein. Knockdown of this gene results in failed cytokinesis with endoreplication, which results in multinucleated cells. This gene has been identified as a likely oncogene in breast, lung and ovarian cancers, as well as retinoblastomas and gliomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]',NULL,NULL,NULL,NULL,NULL),(48328,'NCBI Gene PubMed Count',NULL,19253,NULL,NULL,NULL,45,NULL,NULL,NULL),(48329,'NCBI Gene PubMed Count',NULL,19254,NULL,NULL,NULL,5,NULL,NULL,NULL),(48330,'NCBI Gene Summary',NULL,19255,NULL,'This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(48331,'NCBI Gene PubMed Count',NULL,19255,NULL,NULL,NULL,681,NULL,NULL,NULL),(48332,'NCBI Gene PubMed Count',NULL,19256,NULL,NULL,NULL,11,NULL,NULL,NULL),(48333,'NCBI Gene PubMed Count',NULL,19257,NULL,NULL,NULL,17,NULL,NULL,NULL),(48334,'NCBI Gene Summary',NULL,19258,NULL,'This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(48335,'NCBI Gene PubMed Count',NULL,19258,NULL,NULL,NULL,38,NULL,NULL,NULL),(48336,'NCBI Gene PubMed Count',NULL,19259,NULL,NULL,NULL,24,NULL,NULL,NULL),(48337,'NCBI Gene Summary',NULL,19260,NULL,'Interleukin-34 is a cytokine that promotes the differentiation and viability of monocytes and macrophages through the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin et al., 2008 [PubMed 18467591]).[supplied by OMIM, May 2008]',NULL,NULL,NULL,NULL,NULL),(48338,'NCBI Gene PubMed Count',NULL,19260,NULL,NULL,NULL,42,NULL,NULL,NULL),(48339,'NCBI Gene Summary',NULL,19261,NULL,'The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(48340,'NCBI Gene PubMed Count',NULL,19261,NULL,NULL,NULL,2855,NULL,NULL,NULL),(48341,'NCBI Gene Summary',NULL,19262,NULL,'This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48342,'NCBI Gene PubMed Count',NULL,19262,NULL,NULL,NULL,499,NULL,NULL,NULL),(48343,'NCBI Gene Summary',NULL,19263,NULL,'The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(48344,'NCBI Gene PubMed Count',NULL,19263,NULL,NULL,NULL,54,NULL,NULL,NULL),(48345,'NCBI Gene Summary',NULL,19264,NULL,'The protein encoded by this gene is a member of the CXC chemokine family and is a major mediator of the inflammatory response. The encoded protein is secreted primarily by neutrophils, where it serves as a chemotactic factor by guiding the neutrophils to the site of infection. This chemokine is also a potent angiogenic factor. This gene is believed to play a role in the pathogenesis of bronchiolitis, a common respiratory tract disease caused by viral infection. This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(48346,'NCBI Gene PubMed Count',NULL,19264,NULL,NULL,NULL,2064,NULL,NULL,NULL),(48347,'NCBI Gene Summary',NULL,19265,NULL,'The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48348,'NCBI Gene PubMed Count',NULL,19265,NULL,NULL,NULL,6,NULL,NULL,NULL),(48349,'NCBI Gene Summary',NULL,19266,NULL,'This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48350,'NCBI Gene PubMed Count',NULL,19266,NULL,NULL,NULL,271,NULL,NULL,NULL),(48351,'NCBI Gene PubMed Count',NULL,19267,NULL,NULL,NULL,13,NULL,NULL,NULL),(48352,'NCBI Gene PubMed Count',NULL,19268,NULL,NULL,NULL,22,NULL,NULL,NULL),(48353,'NCBI Gene Summary',NULL,19269,NULL,'The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(48354,'NCBI Gene PubMed Count',NULL,19269,NULL,NULL,NULL,207,NULL,NULL,NULL),(48355,'NCBI Gene PubMed Count',NULL,19270,NULL,NULL,NULL,7,NULL,NULL,NULL),(48356,'NCBI Gene Summary',NULL,19271,NULL,'The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48357,'NCBI Gene PubMed Count',NULL,19271,NULL,NULL,NULL,176,NULL,NULL,NULL),(48358,'NCBI Gene Summary',NULL,19272,NULL,'Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(48359,'NCBI Gene PubMed Count',NULL,19272,NULL,NULL,NULL,8,NULL,NULL,NULL),(48360,'NCBI Gene Summary',NULL,19273,NULL,'Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(48361,'NCBI Gene PubMed Count',NULL,19273,NULL,NULL,NULL,11,NULL,NULL,NULL),(48362,'NCBI Gene Summary',NULL,19274,NULL,'This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(48363,'NCBI Gene PubMed Count',NULL,19274,NULL,NULL,NULL,18,NULL,NULL,NULL),(48364,'NCBI Gene Summary',NULL,19275,NULL,'The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48365,'NCBI Gene PubMed Count',NULL,19275,NULL,NULL,NULL,103,NULL,NULL,NULL),(48366,'NCBI Gene Summary',NULL,19276,NULL,'This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(48367,'NCBI Gene PubMed Count',NULL,19276,NULL,NULL,NULL,182,NULL,NULL,NULL),(48368,'NCBI Gene Summary',NULL,19277,NULL,'This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(48369,'NCBI Gene PubMed Count',NULL,19277,NULL,NULL,NULL,15,NULL,NULL,NULL),(48370,'NCBI Gene Summary',NULL,19278,NULL,'The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(48371,'NCBI Gene PubMed Count',NULL,19278,NULL,NULL,NULL,16,NULL,NULL,NULL),(48372,'NCBI Gene Summary',NULL,19279,NULL,'This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48373,'NCBI Gene PubMed Count',NULL,19279,NULL,NULL,NULL,21,NULL,NULL,NULL),(48374,'NCBI Gene Summary',NULL,19280,NULL,'This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5\' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(48375,'NCBI Gene PubMed Count',NULL,19280,NULL,NULL,NULL,20,NULL,NULL,NULL),(48376,'NCBI Gene Summary',NULL,19281,NULL,'This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(48377,'NCBI Gene PubMed Count',NULL,19281,NULL,NULL,NULL,12,NULL,NULL,NULL),(48378,'NCBI Gene Summary',NULL,19282,NULL,'This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(48379,'NCBI Gene PubMed Count',NULL,19282,NULL,NULL,NULL,22,NULL,NULL,NULL),(48380,'NCBI Gene PubMed Count',NULL,19283,NULL,NULL,NULL,10,NULL,NULL,NULL),(48381,'NCBI Gene Summary',NULL,19284,NULL,'Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(48382,'NCBI Gene PubMed Count',NULL,19284,NULL,NULL,NULL,112,NULL,NULL,NULL),(48383,'NCBI Gene Summary',NULL,19285,NULL,'MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48384,'NCBI Gene PubMed Count',NULL,19285,NULL,NULL,NULL,188,NULL,NULL,NULL),(48385,'NCBI Gene Summary',NULL,19286,NULL,'MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(48386,'NCBI Gene PubMed Count',NULL,19286,NULL,NULL,NULL,27,NULL,NULL,NULL),(48387,'NCBI Gene Summary',NULL,19287,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48388,'NCBI Gene PubMed Count',NULL,19287,NULL,NULL,NULL,62,NULL,NULL,NULL),(48389,'NCBI Gene Summary',NULL,19288,NULL,'This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48390,'NCBI Gene PubMed Count',NULL,19288,NULL,NULL,NULL,76,NULL,NULL,NULL),(48391,'NCBI Gene Summary',NULL,19289,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48392,'NCBI Gene PubMed Count',NULL,19289,NULL,NULL,NULL,17,NULL,NULL,NULL),(48393,'NCBI Gene Summary',NULL,19290,NULL,'This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(48394,'NCBI Gene PubMed Count',NULL,19290,NULL,NULL,NULL,84,NULL,NULL,NULL),(48395,'NCBI Gene Summary',NULL,19291,NULL,'The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(48396,'NCBI Gene PubMed Count',NULL,19291,NULL,NULL,NULL,22,NULL,NULL,NULL),(48397,'NCBI Gene Summary',NULL,19292,NULL,'This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(48398,'NCBI Gene PubMed Count',NULL,19292,NULL,NULL,NULL,17,NULL,NULL,NULL),(48399,'NCBI Gene Summary',NULL,19293,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48400,'NCBI Gene PubMed Count',NULL,19293,NULL,NULL,NULL,65,NULL,NULL,NULL),(48401,'NCBI Gene Summary',NULL,19294,NULL,'This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the LFNG (GeneID: 3955) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene may control Notch signaling in claudin-low breast cancer. [provided by RefSeq, May 2018]',NULL,NULL,NULL,NULL,NULL),(48402,'NCBI Gene PubMed Count',NULL,19294,NULL,NULL,NULL,20,NULL,NULL,NULL),(48403,'NCBI Gene Summary',NULL,19295,NULL,'Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(48404,'NCBI Gene PubMed Count',NULL,19295,NULL,NULL,NULL,17,NULL,NULL,NULL),(48405,'NCBI Gene PubMed Count',NULL,19296,NULL,NULL,NULL,15,NULL,NULL,NULL),(48406,'NCBI Gene Summary',NULL,19297,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48407,'NCBI Gene PubMed Count',NULL,19297,NULL,NULL,NULL,10,NULL,NULL,NULL),(48408,'NCBI Gene Summary',NULL,19298,NULL,'Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a \'silent subunit\', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48409,'NCBI Gene PubMed Count',NULL,19298,NULL,NULL,NULL,30,NULL,NULL,NULL),(48410,'NCBI Gene Summary',NULL,19299,NULL,'This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(48411,'NCBI Gene PubMed Count',NULL,19299,NULL,NULL,NULL,6,NULL,NULL,NULL),(48412,'NCBI Gene PubMed Count',NULL,19300,NULL,NULL,NULL,4,NULL,NULL,NULL),(48413,'NCBI Gene PubMed Count',NULL,19301,NULL,NULL,NULL,5,NULL,NULL,NULL),(48414,'NCBI Gene PubMed Count',NULL,19302,NULL,NULL,NULL,6,NULL,NULL,NULL),(48415,'NCBI Gene PubMed Count',NULL,19303,NULL,NULL,NULL,3,NULL,NULL,NULL),(48416,'NCBI Gene PubMed Count',NULL,19304,NULL,NULL,NULL,6,NULL,NULL,NULL),(48417,'NCBI Gene PubMed Count',NULL,19305,NULL,NULL,NULL,12,NULL,NULL,NULL),(48418,'NCBI Gene PubMed Count',NULL,19306,NULL,NULL,NULL,8,NULL,NULL,NULL),(48419,'NCBI Gene Summary',NULL,19307,NULL,'This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48420,'NCBI Gene PubMed Count',NULL,19307,NULL,NULL,NULL,20,NULL,NULL,NULL),(48421,'NCBI Gene Summary',NULL,19308,NULL,'This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48422,'NCBI Gene PubMed Count',NULL,19308,NULL,NULL,NULL,68,NULL,NULL,NULL),(48423,'NCBI Gene Summary',NULL,19309,NULL,'This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin. The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(48424,'NCBI Gene PubMed Count',NULL,19309,NULL,NULL,NULL,37,NULL,NULL,NULL),(48425,'NCBI Gene Summary',NULL,19310,NULL,'This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5\' UTR.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(48426,'NCBI Gene PubMed Count',NULL,19310,NULL,NULL,NULL,58,NULL,NULL,NULL),(48427,'NCBI Gene Summary',NULL,19311,NULL,'The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48428,'NCBI Gene PubMed Count',NULL,19311,NULL,NULL,NULL,74,NULL,NULL,NULL),(48429,'NCBI Gene Summary',NULL,19312,NULL,'This gene encodes indoleamine 2,3-dioxygenase (IDO) - a heme enzyme that catalyzes the first and rate-limiting step in tryptophan catabolism to N-formyl-kynurenine. This enzyme acts on multiple tryptophan substrates including D-tryptophan, L-tryptophan, 5-hydroxy-tryptophan, tryptamine, and serotonin. This enzyme is thought to play a role in a variety of pathophysiological processes such as antimicrobial and antitumor defense, neuropathology, immunoregulation, and antioxidant activity. Through its expression in dendritic cells, monocytes, and macrophages this enzyme modulates T-cell behavior by its peri-cellular catabolization of the essential amino acid tryptophan.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(48430,'NCBI Gene PubMed Count',NULL,19312,NULL,NULL,NULL,360,NULL,NULL,NULL),(48431,'NCBI Gene PubMed Count',NULL,19313,NULL,NULL,NULL,6,NULL,NULL,NULL),(48432,'NCBI Gene PubMed Count',NULL,19314,NULL,NULL,NULL,10,NULL,NULL,NULL),(48433,'NCBI Gene Summary',NULL,19315,NULL,'In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48434,'NCBI Gene PubMed Count',NULL,19315,NULL,NULL,NULL,23,NULL,NULL,NULL),(48435,'NCBI Gene Summary',NULL,19316,NULL,'This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(48436,'NCBI Gene PubMed Count',NULL,19316,NULL,NULL,NULL,27,NULL,NULL,NULL),(48437,'NCBI Gene Summary',NULL,19317,NULL,'The protein encoded by this gene is closely related to Il13RA1, a subuint of the interleukin 13 receptor complex. This protein binds IL13 with high affinity, but lacks cytoplasmic domain, and does not appear to function as a signal mediator. It is reported to play a role in the internalization of IL13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48438,'NCBI Gene PubMed Count',NULL,19317,NULL,NULL,NULL,85,NULL,NULL,NULL),(48439,'NCBI Gene Summary',NULL,19318,NULL,'The protein encoded by this gene catalyzes the conversion of isopentenyl diphosphate to dimethylallyl diphosphate, which is a precursor for the synthesis of cholesterol and other isoprenoids. This gene, which is a product of an ancestral gene duplication event, encodes a protein that may be involved in the aggregation of alpha-synuclein in the cerebral cortex of patients with Lewy body disease. In addition, segmental copy number gains in this locus have been associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(48440,'NCBI Gene PubMed Count',NULL,19318,NULL,NULL,NULL,11,NULL,NULL,NULL),(48441,'NCBI Gene Summary',NULL,19319,NULL,'The protein encoded by this gene is a member of the interleukin 1 cytokine family. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. This cytokine is thought to participate in a network of interleukin 1 family members to regulate adapted and innate immune responses. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48442,'NCBI Gene PubMed Count',NULL,19319,NULL,NULL,NULL,49,NULL,NULL,NULL),(48443,'NCBI Gene Summary',NULL,19320,NULL,'The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(48444,'NCBI Gene PubMed Count',NULL,19320,NULL,NULL,NULL,111,NULL,NULL,NULL),(48445,'NCBI Gene Summary',NULL,19321,NULL,'The protein encoded by this gene is a cytokine important for B and T cell development. This cytokine and the hepatocyte growth factor (HGF) form a heterodimer that functions as a pre-pro-B cell growth-stimulating factor. This cytokine is found to be a cofactor for V(D)J rearrangement of the T cell receptor beta (TCRB) during early T cell development. This cytokine can be produced locally by intestinal epithelial and epithelial goblet cells, and may serve as a regulatory factor for intestinal mucosal lymphocytes. Knockout studies in mice suggested that this cytokine plays an essential role in lymphoid cell survival. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their presence in normal tissues has not been confirmed.[provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(48446,'NCBI Gene PubMed Count',NULL,19321,NULL,NULL,NULL,231,NULL,NULL,NULL),(48447,'NCBI Gene Summary',NULL,19322,NULL,'The protein encoded by this gene is a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48448,'NCBI Gene PubMed Count',NULL,19322,NULL,NULL,NULL,69,NULL,NULL,NULL),(48449,'NCBI Gene Summary',NULL,19323,NULL,'The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(48450,'NCBI Gene PubMed Count',NULL,19323,NULL,NULL,NULL,242,NULL,NULL,NULL),(48451,'NCBI Gene Summary',NULL,19324,NULL,'The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(48452,'NCBI Gene PubMed Count',NULL,19324,NULL,NULL,NULL,87,NULL,NULL,NULL),(48453,'NCBI Gene Summary',NULL,19325,NULL,'The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48454,'NCBI Gene PubMed Count',NULL,19325,NULL,NULL,NULL,136,NULL,NULL,NULL),(48455,'NCBI Gene PubMed Count',NULL,19326,NULL,NULL,NULL,3,NULL,NULL,NULL),(48456,'NCBI Gene PubMed Count',NULL,19327,NULL,NULL,NULL,17,NULL,NULL,NULL),(48457,'NCBI Gene PubMed Count',NULL,19328,NULL,NULL,NULL,7,NULL,NULL,NULL),(48458,'NCBI Gene Summary',NULL,19329,NULL,'Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. This gene encodes a homeobox protein belonging to the TALE (\'three amino acid loop extension\') family of homeodomain-containing proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48459,'NCBI Gene PubMed Count',NULL,19329,NULL,NULL,NULL,107,NULL,NULL,NULL),(48460,'NCBI Gene Summary',NULL,19330,NULL,'This gene encodes a member of the IQGAP family. The encoded protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. This protein interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. It also acts as a tumor suppressor and has been found to play a role in regulating innate antiviral responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(48461,'NCBI Gene PubMed Count',NULL,19330,NULL,NULL,NULL,37,NULL,NULL,NULL),(48462,'NCBI Gene Summary',NULL,19331,NULL,'This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer\'s disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48463,'NCBI Gene PubMed Count',NULL,19331,NULL,NULL,NULL,39,NULL,NULL,NULL),(48464,'NCBI Gene Summary',NULL,19332,NULL,'This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(48465,'NCBI Gene PubMed Count',NULL,19332,NULL,NULL,NULL,48,NULL,NULL,NULL),(48466,'NCBI Gene Summary',NULL,19333,NULL,'This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(48467,'NCBI Gene PubMed Count',NULL,19333,NULL,NULL,NULL,385,NULL,NULL,NULL),(48468,'NCBI Gene Summary',NULL,19334,NULL,'Integrins are integral transmembrane glycoproteins composed of noncovalently linked alpha and beta chains. They participate in cell adhesion as well as cell-surface mediated signalling. This gene encodes an integrin alpha chain and is expressed at high levels in chondrocytes, where it is transcriptionally regulated by AP-2epsilon and Ets-1. The protein encoded by this gene binds to collagen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(48469,'NCBI Gene PubMed Count',NULL,19334,NULL,NULL,NULL,18,NULL,NULL,NULL),(48470,'NCBI Gene Summary',NULL,19335,NULL,'This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48471,'NCBI Gene PubMed Count',NULL,19335,NULL,NULL,NULL,31,NULL,NULL,NULL),(48472,'NCBI Gene Summary',NULL,19336,NULL,'Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48473,'NCBI Gene PubMed Count',NULL,19336,NULL,NULL,NULL,1127,NULL,NULL,NULL),(48474,'NCBI Gene PubMed Count',NULL,19337,NULL,NULL,NULL,8,NULL,NULL,NULL),(48475,'NCBI Gene Summary',NULL,19338,NULL,'The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 5 subunit. This subunit associates with the beta 1 subunit to form a fibronectin receptor. This integrin may promote tumor invasion, and higher expression of this gene may be correlated with shorter survival time in lung cancer patients. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(48476,'NCBI Gene PubMed Count',NULL,19338,NULL,NULL,NULL,346,NULL,NULL,NULL),(48477,'NCBI Gene Summary',NULL,19339,NULL,'ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48478,'NCBI Gene PubMed Count',NULL,19339,NULL,NULL,NULL,166,NULL,NULL,NULL),(48479,'NCBI Gene Summary',NULL,19340,NULL,'The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(48480,'NCBI Gene PubMed Count',NULL,19340,NULL,NULL,NULL,541,NULL,NULL,NULL),(48481,'NCBI Gene PubMed Count',NULL,19341,NULL,NULL,NULL,18,NULL,NULL,NULL),(48482,'NCBI Gene PubMed Count',NULL,19342,NULL,NULL,NULL,19,NULL,NULL,NULL),(48483,'NCBI Gene PubMed Count',NULL,19343,NULL,NULL,NULL,6,NULL,NULL,NULL),(48484,'NCBI Gene PubMed Count',NULL,19344,NULL,NULL,NULL,15,NULL,NULL,NULL),(48485,'NCBI Gene PubMed Count',NULL,19345,NULL,NULL,NULL,8,NULL,NULL,NULL),(48486,'NCBI Gene PubMed Count',NULL,19346,NULL,NULL,NULL,5,NULL,NULL,NULL),(48487,'NCBI Gene PubMed Count',NULL,19347,NULL,NULL,NULL,31,NULL,NULL,NULL),(48488,'NCBI Gene PubMed Count',NULL,19348,NULL,NULL,NULL,11,NULL,NULL,NULL),(48489,'NCBI Gene Summary',NULL,19349,NULL,'This gene is a member of the alpha interferon gene cluster on the short arm of chromosome 9. Interferons are cytokines produced in response to viral infection that mediate the immune response and interfere with viral replication. The encoded protein is a type I interferon and may play a specific role in the antiviral response to rubella virus. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(48490,'NCBI Gene PubMed Count',NULL,19349,NULL,NULL,NULL,20,NULL,NULL,NULL),(48491,'NCBI Gene Summary',NULL,19350,NULL,'This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48492,'NCBI Gene PubMed Count',NULL,19350,NULL,NULL,NULL,527,NULL,NULL,NULL),(48493,'NCBI Gene Summary',NULL,19351,NULL,'This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48494,'NCBI Gene PubMed Count',NULL,19351,NULL,NULL,NULL,35,NULL,NULL,NULL),(48495,'NCBI Gene PubMed Count',NULL,19352,NULL,NULL,NULL,20,NULL,NULL,NULL),(48496,'NCBI Gene PubMed Count',NULL,19353,NULL,NULL,NULL,10,NULL,NULL,NULL),(48497,'NCBI Gene PubMed Count',NULL,19354,NULL,NULL,NULL,26,NULL,NULL,NULL),(48498,'NCBI Gene Summary',NULL,19355,NULL,'The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48499,'NCBI Gene PubMed Count',NULL,19355,NULL,NULL,NULL,182,NULL,NULL,NULL),(48500,'NCBI Gene Summary',NULL,19356,NULL,'This gene encodes a homeobox protein and probable transcriptional regulator. The orthologous protein in mouse controls expression of 3-phosphoinositide dependent protein kinase 1, which promotes survival of pancreatic beta-cells. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(48501,'NCBI Gene PubMed Count',NULL,19356,NULL,NULL,NULL,10,NULL,NULL,NULL),(48502,'NCBI Gene Summary',NULL,19357,NULL,'The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(48503,'NCBI Gene PubMed Count',NULL,19357,NULL,NULL,NULL,153,NULL,NULL,NULL),(48504,'NCBI Gene PubMed Count',NULL,19358,NULL,NULL,NULL,1,NULL,NULL,NULL),(48505,'NCBI Gene Summary',NULL,19359,NULL,'The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(48506,'NCBI Gene PubMed Count',NULL,19359,NULL,NULL,NULL,7,NULL,NULL,NULL),(48507,'NCBI Gene Summary',NULL,19360,NULL,'This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48508,'NCBI Gene PubMed Count',NULL,19360,NULL,NULL,NULL,1397,NULL,NULL,NULL),(48509,'NCBI Gene PubMed Count',NULL,19361,NULL,NULL,NULL,7,NULL,NULL,NULL),(48510,'NCBI Gene PubMed Count',NULL,19362,NULL,NULL,NULL,28,NULL,NULL,NULL),(48511,'NCBI Gene Summary',NULL,19363,NULL,'This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(48512,'NCBI Gene PubMed Count',NULL,19363,NULL,NULL,NULL,57,NULL,NULL,NULL),(48513,'NCBI Gene PubMed Count',NULL,19364,NULL,NULL,NULL,9,NULL,NULL,NULL),(48514,'NCBI Gene PubMed Count',NULL,19365,NULL,NULL,NULL,22,NULL,NULL,NULL),(48515,'NCBI Gene PubMed Count',NULL,19366,NULL,NULL,NULL,63,NULL,NULL,NULL),(48516,'NCBI Gene Summary',NULL,19367,NULL,'This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). Its interaction with catenin delta-1 (CTNND1) inhibits binding to both methylated and non-methylated DNA. It also interacts directly with the nuclear import receptor Importin-&#945;2 (also known as karyopherin alpha2 or RAG cohort 1), which may mediate nuclear import of this protein. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(48517,'NCBI Gene PubMed Count',NULL,19367,NULL,NULL,NULL,65,NULL,NULL,NULL),(48518,'NCBI Gene Summary',NULL,19368,NULL,'Huntington\'s disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(48519,'NCBI Gene PubMed Count',NULL,19368,NULL,NULL,NULL,58,NULL,NULL,NULL),(48520,'NCBI Gene Summary',NULL,19369,NULL,'The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding. The holoenzyme is involved in many cellular events, including ion transport, metabolism, and transcription. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(48521,'NCBI Gene PubMed Count',NULL,19369,NULL,NULL,NULL,33,NULL,NULL,NULL),(48522,'NCBI Gene Summary',NULL,19370,NULL,'cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48523,'NCBI Gene PubMed Count',NULL,19370,NULL,NULL,NULL,77,NULL,NULL,NULL),(48524,'NCBI Gene Summary',NULL,19371,NULL,'This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(48525,'NCBI Gene PubMed Count',NULL,19371,NULL,NULL,NULL,38,NULL,NULL,NULL),(48526,'NCBI Gene PubMed Count',NULL,19372,NULL,NULL,NULL,16,NULL,NULL,NULL),(48527,'NCBI Gene Summary',NULL,19373,NULL,'This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including differentiation, proliferation, and apoptosis. Constitutive activation of this gene caused either by somatic mutations, or genomic duplications of regions that include this gene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing\'s syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(48528,'NCBI Gene PubMed Count',NULL,19373,NULL,NULL,NULL,492,NULL,NULL,NULL),(48529,'NCBI Gene Summary',NULL,19374,NULL,'The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48530,'NCBI Gene PubMed Count',NULL,19374,NULL,NULL,NULL,195,NULL,NULL,NULL),(48531,'NCBI Gene Summary',NULL,19375,NULL,'This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least six highly degenerated leucine-rich repeats. This family member plays a role in epigenetic silencing. It nucleates at CpG islands and specifically demethylates both mono- and di-methylated lysine-36 of histone H3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(48532,'NCBI Gene PubMed Count',NULL,19375,NULL,NULL,NULL,48,NULL,NULL,NULL),(48533,'NCBI Gene Summary',NULL,19376,NULL,'This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(48534,'NCBI Gene PubMed Count',NULL,19376,NULL,NULL,NULL,62,NULL,NULL,NULL),(48535,'NCBI Gene Summary',NULL,19377,NULL,'This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(48536,'NCBI Gene PubMed Count',NULL,19377,NULL,NULL,NULL,76,NULL,NULL,NULL),(48537,'NCBI Gene PubMed Count',NULL,19378,NULL,NULL,NULL,21,NULL,NULL,NULL),(48538,'NCBI Gene Summary',NULL,19379,NULL,'The protein encoded by this intronless gene is a member of a large family of histone lysine demethylases, which use oxygen and 2-oxoglutarate to demethylate di- and trimethylated lys9 of histone H3. Derepression of genes by demethylases is sometimes involved in viral infection or carcinogenesis, so inhibitors of these enzymes are desired. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(48539,'NCBI Gene PubMed Count',NULL,19379,NULL,NULL,NULL,6,NULL,NULL,NULL),(48540,'NCBI Gene Summary',NULL,19380,NULL,'This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein plays a role in the transcriptional repression or certain tumor suppressor genes and is upregulated in certain cancer cells. This protein may also play a role in genome stability and DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(48541,'NCBI Gene PubMed Count',NULL,19380,NULL,NULL,NULL,78,NULL,NULL,NULL),(48542,'NCBI Gene Summary',NULL,19381,NULL,'The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48543,'NCBI Gene PubMed Count',NULL,19381,NULL,NULL,NULL,32,NULL,NULL,NULL),(48544,'NCBI Gene Summary',NULL,19382,NULL,'The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(48545,'NCBI Gene PubMed Count',NULL,19382,NULL,NULL,NULL,16,NULL,NULL,NULL),(48546,'NCBI Gene PubMed Count',NULL,19383,NULL,NULL,NULL,91,NULL,NULL,NULL),(48547,'NCBI Gene PubMed Count',NULL,19384,NULL,NULL,NULL,18,NULL,NULL,NULL),(48548,'NCBI Gene Summary',NULL,19385,NULL,'Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(48549,'NCBI Gene PubMed Count',NULL,19385,NULL,NULL,NULL,20,NULL,NULL,NULL),(48550,'NCBI Gene PubMed Count',NULL,19386,NULL,NULL,NULL,30,NULL,NULL,NULL),(48551,'NCBI Gene Summary',NULL,19387,NULL,'This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48552,'NCBI Gene PubMed Count',NULL,19387,NULL,NULL,NULL,53,NULL,NULL,NULL),(48553,'NCBI Gene Summary',NULL,19388,NULL,'Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).[supplied by OMIM, May 2010]',NULL,NULL,NULL,NULL,NULL),(48554,'NCBI Gene PubMed Count',NULL,19388,NULL,NULL,NULL,35,NULL,NULL,NULL),(48555,'NCBI Gene Summary',NULL,19389,NULL,'DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(48556,'NCBI Gene PubMed Count',NULL,19389,NULL,NULL,NULL,223,NULL,NULL,NULL),(48557,'NCBI Gene PubMed Count',NULL,19390,NULL,NULL,NULL,9,NULL,NULL,NULL),(48558,'NCBI Gene PubMed Count',NULL,19391,NULL,NULL,NULL,13,NULL,NULL,NULL),(48559,'NCBI Gene Summary',NULL,19392,NULL,'The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(48560,'NCBI Gene PubMed Count',NULL,19392,NULL,NULL,NULL,15,NULL,NULL,NULL),(48561,'NCBI Gene PubMed Count',NULL,19393,NULL,NULL,NULL,4,NULL,NULL,NULL),(48562,'NCBI Gene Summary',NULL,19394,NULL,'This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48563,'NCBI Gene PubMed Count',NULL,19394,NULL,NULL,NULL,23,NULL,NULL,NULL),(48564,'NCBI Gene Summary',NULL,19395,NULL,'This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(48565,'NCBI Gene PubMed Count',NULL,19395,NULL,NULL,NULL,25,NULL,NULL,NULL),(48566,'NCBI Gene Summary',NULL,19396,NULL,'The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(48567,'NCBI Gene PubMed Count',NULL,19396,NULL,NULL,NULL,8,NULL,NULL,NULL),(48568,'NCBI Gene PubMed Count',NULL,19398,NULL,NULL,NULL,5,NULL,NULL,NULL),(48569,'NCBI Gene Summary',NULL,19399,NULL,'This gene encodes a component of the interleukin 1 receptor complex, which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in membrane-bound and soluble isoforms differing in their C-terminus. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Jul 2018]',NULL,NULL,NULL,NULL,NULL),(48570,'NCBI Gene PubMed Count',NULL,19399,NULL,NULL,NULL,69,NULL,NULL,NULL),(48571,'NCBI Gene Summary',NULL,19400,NULL,'The protein encoded by this gene is a cytokine that binds to the IL1RL1/ST2 receptor. The encoded protein is involved in the maturation of Th2 cells and the activation of mast cells, basophils, eosinophils and natural killer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(48572,'NCBI Gene PubMed Count',NULL,19400,NULL,NULL,NULL,425,NULL,NULL,NULL),(48573,'NCBI Gene Summary',NULL,19401,NULL,'The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]',NULL,NULL,NULL,NULL,NULL),(48574,'NCBI Gene PubMed Count',NULL,19401,NULL,NULL,NULL,81,NULL,NULL,NULL),(48575,'NCBI Gene Summary',NULL,19402,NULL,'The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(48576,'NCBI Gene PubMed Count',NULL,19402,NULL,NULL,NULL,966,NULL,NULL,NULL),(48577,'NCBI Gene Summary',NULL,19403,NULL,'The protein encoded by this gene is a member of the interleukin 1 cytokine family. The activity of this cytokine is mediated by interleukin 1 receptor-like 2 (IL1RL2/IL1R-rp2), and is specifically inhibited by interleukin 1 family, member 5 (IL1F5/IL-1 delta). Interferon-gamma, tumor necrosis factor-alpha and interleukin 1, beta (IL1B) are reported to stimulate the expression of this cytokine in keratinocytes. The expression of this cytokine in keratinocytes can also be induced by a contact hypersensitivity reaction or herpes simplex virus infection. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(48578,'NCBI Gene PubMed Count',NULL,19403,NULL,NULL,NULL,52,NULL,NULL,NULL),(48579,'NCBI Gene Summary',NULL,19404,NULL,'The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48580,'NCBI Gene PubMed Count',NULL,19404,NULL,NULL,NULL,134,NULL,NULL,NULL),(48581,'NCBI Gene Summary',NULL,19405,NULL,'The protein encoded by this gene is a secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48582,'NCBI Gene PubMed Count',NULL,19405,NULL,NULL,NULL,712,NULL,NULL,NULL),(48583,'NCBI Gene Summary',NULL,19406,NULL,'This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(48584,'NCBI Gene PubMed Count',NULL,19406,NULL,NULL,NULL,4192,NULL,NULL,NULL),(48585,'NCBI Gene PubMed Count',NULL,19407,NULL,NULL,NULL,24,NULL,NULL,NULL),(48586,'NCBI Gene Summary',NULL,19408,NULL,'This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48587,'NCBI Gene PubMed Count',NULL,19408,NULL,NULL,NULL,76,NULL,NULL,NULL),(48588,'NCBI Gene PubMed Count',NULL,19409,NULL,NULL,NULL,23,NULL,NULL,NULL),(48589,'NCBI Gene Summary',NULL,19410,NULL,'This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(48590,'NCBI Gene PubMed Count',NULL,19410,NULL,NULL,NULL,262,NULL,NULL,NULL),(48591,'NCBI Gene Summary',NULL,19411,NULL,'This gene is a proto-oncogene whose promoter is methylated by DNA methyltransferase 3B (DNMT3B), which represses the proto-oncogene. However, a catalytically inactive isoform of DNMT3B is overexpressed in lymphomas, leading to hypomethylation of the proto-oncogene\'s promoter and derepression of the proto-oncogene. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(48592,'NCBI Gene PubMed Count',NULL,19411,NULL,NULL,NULL,4,NULL,NULL,NULL),(48593,'NCBI Gene Summary',NULL,19412,NULL,'This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48594,'NCBI Gene PubMed Count',NULL,19412,NULL,NULL,NULL,20,NULL,NULL,NULL),(48595,'NCBI Gene Summary',NULL,19413,NULL,'The protein encoded by this gene is an androgen receptor coactivator that forms a complex with protein arginine methyltransferase 5, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins. The encoded protein may be involved in the early stages of prostate cancer, with most of the protein being nuclear-localized in benign cells but cytoplasmic in cancer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(48596,'NCBI Gene PubMed Count',NULL,19413,NULL,NULL,NULL,51,NULL,NULL,NULL),(48597,'NCBI Gene Summary',NULL,19414,NULL,'This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48598,'NCBI Gene PubMed Count',NULL,19414,NULL,NULL,NULL,127,NULL,NULL,NULL),(48599,'NCBI Gene Summary',NULL,19415,NULL,'This locus represents naturally occurring read-through transcription between the neighboring ISY1 (ISY1 splicing factor homolog) and RAB43 (RAB43, member RAS oncogene family) gene on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(48600,'NCBI Gene PubMed Count',NULL,19415,NULL,NULL,NULL,2,NULL,NULL,NULL),(48601,'NCBI Gene Summary',NULL,19416,NULL,'This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48602,'NCBI Gene PubMed Count',NULL,19416,NULL,NULL,NULL,247,NULL,NULL,NULL),(48603,'NCBI Gene PubMed Count',NULL,19417,NULL,NULL,NULL,6,NULL,NULL,NULL),(48604,'NCBI Gene PubMed Count',NULL,19418,NULL,NULL,NULL,32,NULL,NULL,NULL),(48605,'NCBI Gene Summary',NULL,19419,NULL,'This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48606,'NCBI Gene PubMed Count',NULL,19419,NULL,NULL,NULL,33,NULL,NULL,NULL),(48607,'NCBI Gene Summary',NULL,19420,NULL,'The protein encoded by this gene is an intracellular motor protein thought to transport organelles along microtubules. The encoded protein is required for kidney development. Elevated levels of this protein have been found in some breast and colorectal cancers. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(48608,'NCBI Gene PubMed Count',NULL,19420,NULL,NULL,NULL,12,NULL,NULL,NULL),(48609,'NCBI Gene Summary',NULL,19421,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48610,'NCBI Gene PubMed Count',NULL,19421,NULL,NULL,NULL,155,NULL,NULL,NULL),(48611,'NCBI Gene Summary',NULL,19422,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the \"framework\" loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(48612,'NCBI Gene PubMed Count',NULL,19422,NULL,NULL,NULL,133,NULL,NULL,NULL),(48613,'NCBI Gene Summary',NULL,19423,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48614,'NCBI Gene PubMed Count',NULL,19423,NULL,NULL,NULL,129,NULL,NULL,NULL),(48615,'NCBI Gene Summary',NULL,19424,NULL,'Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several \"framework\" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the \"framework\" loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(48616,'NCBI Gene PubMed Count',NULL,19424,NULL,NULL,NULL,108,NULL,NULL,NULL),(48617,'NCBI Gene Summary',NULL,19425,NULL,'The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(48618,'NCBI Gene PubMed Count',NULL,19425,NULL,NULL,NULL,17,NULL,NULL,NULL),(48619,'NCBI Gene PubMed Count',NULL,19426,NULL,NULL,NULL,23,NULL,NULL,NULL),(48620,'NCBI Gene Summary',NULL,19427,NULL,'This gene is an intronless retrocopy of kinesin family member 4A. The protein encoded by this gene is a microtubule-based motor protein that plays vital roles in anaphase spindle dynamics and cytokinesis. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(48621,'NCBI Gene PubMed Count',NULL,19427,NULL,NULL,NULL,6,NULL,NULL,NULL),(48622,'NCBI Gene Summary',NULL,19428,NULL,'This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(48623,'NCBI Gene PubMed Count',NULL,19428,NULL,NULL,NULL,10,NULL,NULL,NULL),(48624,'NCBI Gene Summary',NULL,19429,NULL,'The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(48625,'NCBI Gene PubMed Count',NULL,19429,NULL,NULL,NULL,42,NULL,NULL,NULL),(48626,'NCBI Gene Summary',NULL,19430,NULL,'NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48627,'NCBI Gene PubMed Count',NULL,19430,NULL,NULL,NULL,22,NULL,NULL,NULL),(48628,'NCBI Gene Summary',NULL,19431,NULL,'This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(48629,'NCBI Gene PubMed Count',NULL,19431,NULL,NULL,NULL,49,NULL,NULL,NULL),(48630,'NCBI Gene Summary',NULL,19432,NULL,'The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(48631,'NCBI Gene PubMed Count',NULL,19432,NULL,NULL,NULL,18,NULL,NULL,NULL),(48632,'NCBI Gene Summary',NULL,19433,NULL,'This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48633,'NCBI Gene PubMed Count',NULL,19433,NULL,NULL,NULL,10,NULL,NULL,NULL),(48634,'NCBI Gene PubMed Count',NULL,19434,NULL,NULL,NULL,9,NULL,NULL,NULL),(48635,'NCBI Gene PubMed Count',NULL,19435,NULL,NULL,NULL,31,NULL,NULL,NULL),(48636,'NCBI Gene Summary',NULL,19436,NULL,'This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48637,'NCBI Gene PubMed Count',NULL,19436,NULL,NULL,NULL,325,NULL,NULL,NULL),(48638,'NCBI Gene Summary',NULL,19437,NULL,'This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(48639,'NCBI Gene PubMed Count',NULL,19437,NULL,NULL,NULL,37,NULL,NULL,NULL),(48640,'NCBI Gene Summary',NULL,19438,NULL,'Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(48641,'NCBI Gene PubMed Count',NULL,19438,NULL,NULL,NULL,75,NULL,NULL,NULL),(48642,'NCBI Gene Summary',NULL,19439,NULL,'Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(48643,'NCBI Gene PubMed Count',NULL,19439,NULL,NULL,NULL,139,NULL,NULL,NULL),(48644,'NCBI Gene Summary',NULL,19440,NULL,'Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48645,'NCBI Gene PubMed Count',NULL,19440,NULL,NULL,NULL,734,NULL,NULL,NULL),(48646,'NCBI Gene PubMed Count',NULL,19441,NULL,NULL,NULL,2,NULL,NULL,NULL),(48647,'NCBI Gene PubMed Count',NULL,19442,NULL,NULL,NULL,5,NULL,NULL,NULL),(48648,'NCBI Gene PubMed Count',NULL,19443,NULL,NULL,NULL,5,NULL,NULL,NULL),(48649,'NCBI Gene PubMed Count',NULL,19444,NULL,NULL,NULL,3,NULL,NULL,NULL),(48650,'NCBI Gene Summary',NULL,19445,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48651,'NCBI Gene PubMed Count',NULL,19445,NULL,NULL,NULL,4,NULL,NULL,NULL),(48652,'NCBI Gene Summary',NULL,19446,NULL,'The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(48653,'NCBI Gene PubMed Count',NULL,19446,NULL,NULL,NULL,3,NULL,NULL,NULL),(48654,'NCBI Gene PubMed Count',NULL,19447,NULL,NULL,NULL,2,NULL,NULL,NULL),(48655,'NCBI Gene PubMed Count',NULL,19448,NULL,NULL,NULL,3,NULL,NULL,NULL),(48656,'NCBI Gene PubMed Count',NULL,19449,NULL,NULL,NULL,3,NULL,NULL,NULL),(48657,'NCBI Gene PubMed Count',NULL,19450,NULL,NULL,NULL,8,NULL,NULL,NULL),(48658,'NCBI Gene Summary',NULL,19451,NULL,'The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48659,'NCBI Gene PubMed Count',NULL,19451,NULL,NULL,NULL,12,NULL,NULL,NULL),(48660,'NCBI Gene Summary',NULL,19452,NULL,'The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48661,'NCBI Gene PubMed Count',NULL,19452,NULL,NULL,NULL,7,NULL,NULL,NULL),(48662,'NCBI Gene Summary',NULL,19453,NULL,'The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48663,'NCBI Gene PubMed Count',NULL,19453,NULL,NULL,NULL,10,NULL,NULL,NULL),(48664,'NCBI Gene PubMed Count',NULL,19454,NULL,NULL,NULL,3,NULL,NULL,NULL),(48665,'NCBI Gene PubMed Count',NULL,19455,NULL,NULL,NULL,4,NULL,NULL,NULL),(48666,'NCBI Gene Summary',NULL,19456,NULL,'A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(48667,'NCBI Gene PubMed Count',NULL,19456,NULL,NULL,NULL,17,NULL,NULL,NULL),(48668,'NCBI Gene PubMed Count',NULL,19457,NULL,NULL,NULL,9,NULL,NULL,NULL),(48669,'NCBI Gene PubMed Count',NULL,19458,NULL,NULL,NULL,3,NULL,NULL,NULL),(48670,'NCBI Gene Summary',NULL,19459,NULL,'This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(48671,'NCBI Gene PubMed Count',NULL,19459,NULL,NULL,NULL,40,NULL,NULL,NULL),(48672,'NCBI Gene Summary',NULL,19460,NULL,'This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48673,'NCBI Gene PubMed Count',NULL,19460,NULL,NULL,NULL,35,NULL,NULL,NULL),(48674,'NCBI Gene PubMed Count',NULL,19461,NULL,NULL,NULL,13,NULL,NULL,NULL),(48675,'NCBI Gene PubMed Count',NULL,19462,NULL,NULL,NULL,18,NULL,NULL,NULL),(48676,'NCBI Gene Summary',NULL,19463,NULL,'Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48677,'NCBI Gene PubMed Count',NULL,19463,NULL,NULL,NULL,86,NULL,NULL,NULL),(48678,'NCBI Gene Summary',NULL,19464,NULL,'This gene is the host gene for the MIR17-92 cluster, a group of at least six microRNAs (miRNAs) that may be involved in cell survival, proliferation, differentiation, and angiogenesis. Amplification of this gene has been found in several lymphomas and solid tumors. Two non-protein coding transcript variants have been found for this host gene, but only the longest is a polycistronic transcript containing the MIR17-92 cluster. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(48679,'NCBI Gene PubMed Count',NULL,19464,NULL,NULL,NULL,82,NULL,NULL,NULL),(48680,'NCBI Gene Summary',NULL,19465,NULL,'This gene encodes a member of the Rho family of GTPases. The encoded protein is localized to the outer mitochondrial membrane and plays a role in mitochondrial trafficking and fusion-fission dynamics. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(48681,'NCBI Gene PubMed Count',NULL,19465,NULL,NULL,NULL,22,NULL,NULL,NULL),(48682,'NCBI Gene Summary',NULL,19466,NULL,'Abscission, the separation of daughter cells at the end of cytokinesis, is effected by endosomal sorting complexes required for transport III (ESCRT-III). The protein encoded by this gene functions as a homodimer, with the N-termini binding to a subset of ESCRT-III subunits and the C-termini binding to membranes. The encoded protein regulates ESCRT-III activity and is required for proper cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(48683,'NCBI Gene PubMed Count',NULL,19466,NULL,NULL,NULL,16,NULL,NULL,NULL),(48684,'NCBI Gene Summary',NULL,19467,NULL,'Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48685,'NCBI Gene PubMed Count',NULL,19467,NULL,NULL,NULL,10,NULL,NULL,NULL),(48686,'NCBI Gene Summary',NULL,19468,NULL,'This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(48687,'NCBI Gene PubMed Count',NULL,19468,NULL,NULL,NULL,1753,NULL,NULL,NULL),(48688,'NCBI Gene Summary',NULL,19469,NULL,'The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48689,'NCBI Gene PubMed Count',NULL,19469,NULL,NULL,NULL,1102,NULL,NULL,NULL),(48690,'NCBI Gene PubMed Count',NULL,19470,NULL,NULL,NULL,1,NULL,NULL,NULL),(48691,'NCBI Gene Summary',NULL,19471,NULL,'The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48692,'NCBI Gene PubMed Count',NULL,19471,NULL,NULL,NULL,6,NULL,NULL,NULL),(48693,'NCBI Gene Summary',NULL,19472,NULL,'The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48694,'NCBI Gene PubMed Count',NULL,19472,NULL,NULL,NULL,11,NULL,NULL,NULL),(48695,'NCBI Gene Summary',NULL,19473,NULL,'The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48696,'NCBI Gene PubMed Count',NULL,19473,NULL,NULL,NULL,5,NULL,NULL,NULL),(48697,'NCBI Gene Summary',NULL,19474,NULL,'This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(48698,'NCBI Gene PubMed Count',NULL,19474,NULL,NULL,NULL,22,NULL,NULL,NULL),(48699,'NCBI Gene PubMed Count',NULL,19475,NULL,NULL,NULL,7,NULL,NULL,NULL),(48700,'NCBI Gene PubMed Count',NULL,19476,NULL,NULL,NULL,13,NULL,NULL,NULL),(48701,'NCBI Gene Summary',NULL,19477,NULL,'The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48702,'NCBI Gene PubMed Count',NULL,19477,NULL,NULL,NULL,15,NULL,NULL,NULL),(48703,'NCBI Gene PubMed Count',NULL,19478,NULL,NULL,NULL,16,NULL,NULL,NULL),(48704,'NCBI Gene PubMed Count',NULL,19479,NULL,NULL,NULL,14,NULL,NULL,NULL),(48705,'NCBI Gene Summary',NULL,19480,NULL,'Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus and phosphorylate nuclear targets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]',NULL,NULL,NULL,NULL,NULL),(48706,'NCBI Gene PubMed Count',NULL,19480,NULL,NULL,NULL,15,NULL,NULL,NULL),(48707,'NCBI Gene Summary',NULL,19481,NULL,'The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene\'s mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(48708,'NCBI Gene PubMed Count',NULL,19481,NULL,NULL,NULL,174,NULL,NULL,NULL),(48709,'NCBI Gene Summary',NULL,19482,NULL,'This gene encodes a member of a family of protein kinases that are involved in the integration of biochemical signals for a wide variety of cellular processes, including cell proliferation, differentiation, transcriptional regulation, and development. The encoded protein can be activated by proinflammatory cytokines and environmental stresses through phosphorylation by mitogen activated protein kinase kinases (MKKs). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(48710,'NCBI Gene PubMed Count',NULL,19482,NULL,NULL,NULL,97,NULL,NULL,NULL),(48711,'NCBI Gene Summary',NULL,19483,NULL,'This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(48712,'NCBI Gene PubMed Count',NULL,19483,NULL,NULL,NULL,43,NULL,NULL,NULL),(48713,'NCBI Gene Summary',NULL,19484,NULL,'This gene encodes a member of the mitogen-activated protein (MAP) kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(48714,'NCBI Gene PubMed Count',NULL,19484,NULL,NULL,NULL,60,NULL,NULL,NULL),(48715,'NCBI Gene Summary',NULL,19485,NULL,'The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48716,'NCBI Gene PubMed Count',NULL,19485,NULL,NULL,NULL,1128,NULL,NULL,NULL),(48717,'NCBI Gene PubMed Count',NULL,19486,NULL,NULL,NULL,7,NULL,NULL,NULL),(48718,'NCBI Gene Summary',NULL,19487,NULL,'The protein encoded by this gene is highly expressed in the lacrimal glands and localized primarily to secretory granules and secretory fluid. It augments lacrimal acinar cell secretion, promotes ductal cell proliferation, and stimulates signaling through tyrosine phosphorylation and release of calcium. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48719,'NCBI Gene PubMed Count',NULL,19487,NULL,NULL,NULL,41,NULL,NULL,NULL),(48720,'NCBI Gene Summary',NULL,19488,NULL,'This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(48721,'NCBI Gene PubMed Count',NULL,19488,NULL,NULL,NULL,20,NULL,NULL,NULL),(48722,'NCBI Gene Summary',NULL,19489,NULL,'This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(48723,'NCBI Gene PubMed Count',NULL,19489,NULL,NULL,NULL,34,NULL,NULL,NULL),(48724,'NCBI Gene Summary',NULL,19490,NULL,'The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48725,'NCBI Gene PubMed Count',NULL,19490,NULL,NULL,NULL,91,NULL,NULL,NULL),(48726,'NCBI Gene PubMed Count',NULL,19491,NULL,NULL,NULL,9,NULL,NULL,NULL),(48727,'NCBI Gene PubMed Count',NULL,19492,NULL,NULL,NULL,6,NULL,NULL,NULL),(48728,'NCBI Gene Summary',NULL,19493,NULL,'Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP\'s are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48729,'NCBI Gene PubMed Count',NULL,19493,NULL,NULL,NULL,684,NULL,NULL,NULL),(48730,'NCBI Gene Summary',NULL,19494,NULL,'This gene encodes a member of the matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Proteolysis at different sites on this protein results in multiple active forms of the enzyme with distinct N-termini. This protein functions in the degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(48731,'NCBI Gene PubMed Count',NULL,19494,NULL,NULL,NULL,210,NULL,NULL,NULL),(48732,'NCBI Gene PubMed Count',NULL,19495,NULL,NULL,NULL,2,NULL,NULL,NULL),(48733,'NCBI Gene Summary',NULL,19496,NULL,'This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(48734,'NCBI Gene PubMed Count',NULL,19496,NULL,NULL,NULL,27,NULL,NULL,NULL),(48735,'NCBI Gene Summary',NULL,19497,NULL,'This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(48736,'NCBI Gene PubMed Count',NULL,19497,NULL,NULL,NULL,26,NULL,NULL,NULL),(48737,'NCBI Gene Summary',NULL,19498,NULL,'Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(48738,'NCBI Gene PubMed Count',NULL,19498,NULL,NULL,NULL,4,NULL,NULL,NULL),(48739,'NCBI Gene PubMed Count',NULL,19499,NULL,NULL,NULL,5,NULL,NULL,NULL),(48740,'NCBI Gene PubMed Count',NULL,19500,NULL,NULL,NULL,11,NULL,NULL,NULL),(48741,'NCBI Gene PubMed Count',NULL,19501,NULL,NULL,NULL,27,NULL,NULL,NULL),(48742,'NCBI Gene Summary',NULL,19502,NULL,'This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(48743,'NCBI Gene PubMed Count',NULL,19502,NULL,NULL,NULL,37,NULL,NULL,NULL),(48744,'NCBI Gene Summary',NULL,19503,NULL,'The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(48745,'NCBI Gene PubMed Count',NULL,19503,NULL,NULL,NULL,61,NULL,NULL,NULL),(48746,'NCBI Gene Summary',NULL,19504,NULL,'This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, and disease processes, such as asthma and tumor metastasis. The encoded protein may play an important role in embryogenesis, particularly in neuronal cells, as well as in lymphocyte development and survival. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(48747,'NCBI Gene PubMed Count',NULL,19504,NULL,NULL,NULL,22,NULL,NULL,NULL),(48748,'NCBI Gene Summary',NULL,19505,NULL,'Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3\' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(48749,'NCBI Gene PubMed Count',NULL,19505,NULL,NULL,NULL,89,NULL,NULL,NULL),(48750,'NCBI Gene Summary',NULL,19506,NULL,'Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3\' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(48751,'NCBI Gene PubMed Count',NULL,19506,NULL,NULL,NULL,126,NULL,NULL,NULL),(48752,'NCBI Gene Summary',NULL,19507,NULL,'Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(48753,'NCBI Gene PubMed Count',NULL,19507,NULL,NULL,NULL,34,NULL,NULL,NULL),(48754,'NCBI Gene PubMed Count',NULL,19508,NULL,NULL,NULL,3,NULL,NULL,NULL),(48755,'NCBI Gene Summary',NULL,19509,NULL,'Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5\' splice site (gc) in the 5\' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(48756,'NCBI Gene PubMed Count',NULL,19509,NULL,NULL,NULL,57,NULL,NULL,NULL),(48757,'NCBI Gene Summary',NULL,19510,NULL,'The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48758,'NCBI Gene PubMed Count',NULL,19510,NULL,NULL,NULL,119,NULL,NULL,NULL),(48759,'NCBI Gene PubMed Count',NULL,19511,NULL,NULL,NULL,6,NULL,NULL,NULL),(48760,'NCBI Gene Summary',NULL,19512,NULL,'This gene encodes an adapter protein that acts as a substrate of the T cell antigen receptor (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with growth factor receptor bound protein 2, and is thought to play a role TCR-mediated intracellular signal transduction. A similar protein in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016]',NULL,NULL,NULL,NULL,NULL),(48761,'NCBI Gene PubMed Count',NULL,19512,NULL,NULL,NULL,127,NULL,NULL,NULL),(48762,'NCBI Gene PubMed Count',NULL,19513,NULL,NULL,NULL,4,NULL,NULL,NULL),(48763,'NCBI Gene PubMed Count',NULL,19514,NULL,NULL,NULL,7,NULL,NULL,NULL),(48764,'NCBI Gene PubMed Count',NULL,19515,NULL,NULL,NULL,5,NULL,NULL,NULL),(48765,'NCBI Gene PubMed Count',NULL,19516,NULL,NULL,NULL,5,NULL,NULL,NULL),(48766,'NCBI Gene PubMed Count',NULL,19517,NULL,NULL,NULL,2,NULL,NULL,NULL),(48767,'NCBI Gene Summary',NULL,19518,NULL,'This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(48768,'NCBI Gene PubMed Count',NULL,19518,NULL,NULL,NULL,25,NULL,NULL,NULL),(48769,'NCBI Gene PubMed Count',NULL,19519,NULL,NULL,NULL,6,NULL,NULL,NULL),(48770,'NCBI Gene Summary',NULL,19520,NULL,'LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48771,'NCBI Gene PubMed Count',NULL,19520,NULL,NULL,NULL,33,NULL,NULL,NULL),(48772,'NCBI Gene Summary',NULL,19521,NULL,'This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(48773,'NCBI Gene PubMed Count',NULL,19521,NULL,NULL,NULL,24,NULL,NULL,NULL),(48774,'NCBI Gene PubMed Count',NULL,19522,NULL,NULL,NULL,8,NULL,NULL,NULL),(48775,'NCBI Gene Summary',NULL,19523,NULL,'The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(48776,'NCBI Gene PubMed Count',NULL,19523,NULL,NULL,NULL,165,NULL,NULL,NULL),(48777,'NCBI Gene PubMed Count',NULL,19524,NULL,NULL,NULL,7,NULL,NULL,NULL),(48778,'NCBI Gene Summary',NULL,19525,NULL,'This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more telomeric gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48779,'NCBI Gene PubMed Count',NULL,19525,NULL,NULL,NULL,8,NULL,NULL,NULL),(48780,'NCBI Gene PubMed Count',NULL,19526,NULL,NULL,NULL,19,NULL,NULL,NULL),(48781,'NCBI Gene PubMed Count',NULL,19527,NULL,NULL,NULL,18,NULL,NULL,NULL),(48782,'NCBI Gene Summary',NULL,19528,NULL,'This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protein is a membrane-tethered mucin that contains an extracellular domain at its amino terminus, a large tandem repeat domain, and a transmembrane domain with a short cytoplasmic domain. The amino terminus is highly glycosylated, while the repeat region contains 156 amino acid repeats unit that are rich in serines, threonines, and prolines. Interspersed within the repeats are Sea urchin sperm protein Enterokinase and Agrin (SEA) modules, leucine-rich repeats and ankyrin (ANK) repeats. These regions together form the ectodomain, and there is a potential cleavage site found near an SEA module close to the transmembrane domain. This protein is thought to play a role in forming a barrier, protecting epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(48783,'NCBI Gene PubMed Count',NULL,19528,NULL,NULL,NULL,269,NULL,NULL,NULL),(48784,'NCBI Gene Summary',NULL,19529,NULL,'The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48785,'NCBI Gene PubMed Count',NULL,19529,NULL,NULL,NULL,165,NULL,NULL,NULL),(48786,'NCBI Gene PubMed Count',NULL,19530,NULL,NULL,NULL,3,NULL,NULL,NULL),(48787,'NCBI Gene Summary',NULL,19531,NULL,'This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48788,'NCBI Gene PubMed Count',NULL,19531,NULL,NULL,NULL,5,NULL,NULL,NULL),(48789,'NCBI Gene Summary',NULL,19532,NULL,'This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48790,'NCBI Gene PubMed Count',NULL,19532,NULL,NULL,NULL,10,NULL,NULL,NULL),(48791,'NCBI Gene Summary',NULL,19533,NULL,'This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(48792,'NCBI Gene PubMed Count',NULL,19533,NULL,NULL,NULL,11,NULL,NULL,NULL),(48793,'NCBI Gene Summary',NULL,19534,NULL,'Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(48794,'NCBI Gene PubMed Count',NULL,19534,NULL,NULL,NULL,17,NULL,NULL,NULL),(48795,'NCBI Gene Summary',NULL,19535,NULL,'Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48796,'NCBI Gene PubMed Count',NULL,19535,NULL,NULL,NULL,175,NULL,NULL,NULL),(48797,'NCBI Gene PubMed Count',NULL,19536,NULL,NULL,NULL,6,NULL,NULL,NULL),(48798,'NCBI Gene PubMed Count',NULL,19537,NULL,NULL,NULL,2,NULL,NULL,NULL),(48799,'NCBI Gene Summary',NULL,19538,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48800,'NCBI Gene PubMed Count',NULL,19538,NULL,NULL,NULL,9,NULL,NULL,NULL),(48801,'NCBI Gene Summary',NULL,19539,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48802,'NCBI Gene PubMed Count',NULL,19539,NULL,NULL,NULL,5,NULL,NULL,NULL),(48803,'NCBI Gene PubMed Count',NULL,19540,NULL,NULL,NULL,3,NULL,NULL,NULL),(48804,'NCBI Gene PubMed Count',NULL,19541,NULL,NULL,NULL,1,NULL,NULL,NULL),(48805,'NCBI Gene Summary',NULL,19542,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48806,'NCBI Gene PubMed Count',NULL,19542,NULL,NULL,NULL,3,NULL,NULL,NULL),(48807,'NCBI Gene Summary',NULL,19543,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. Alternative haplotypes of this gene are represented in the GRCh38 reference genome assembly. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(48808,'NCBI Gene PubMed Count',NULL,19543,NULL,NULL,NULL,1,NULL,NULL,NULL),(48809,'NCBI Gene PubMed Count',NULL,19544,NULL,NULL,NULL,0,NULL,NULL,NULL),(48810,'NCBI Gene PubMed Count',NULL,19545,NULL,NULL,NULL,2,NULL,NULL,NULL),(48811,'NCBI Gene Summary',NULL,19546,NULL,'This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(48812,'NCBI Gene PubMed Count',NULL,19546,NULL,NULL,NULL,7,NULL,NULL,NULL),(48813,'NCBI Gene Summary',NULL,19547,NULL,'This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48814,'NCBI Gene PubMed Count',NULL,19547,NULL,NULL,NULL,148,NULL,NULL,NULL),(48815,'NCBI Gene PubMed Count',NULL,19548,NULL,NULL,NULL,7,NULL,NULL,NULL),(48816,'NCBI Gene Summary',NULL,19549,NULL,'This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and ATF1. The encoded protein can also phosphorylate histone H3 to regulate certain inflammatory genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(48817,'NCBI Gene PubMed Count',NULL,19549,NULL,NULL,NULL,32,NULL,NULL,NULL),(48818,'NCBI Gene PubMed Count',NULL,19550,NULL,NULL,NULL,20,NULL,NULL,NULL),(48819,'NCBI Gene Summary',NULL,19551,NULL,'This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(48820,'NCBI Gene PubMed Count',NULL,19551,NULL,NULL,NULL,18,NULL,NULL,NULL),(48821,'NCBI Gene PubMed Count',NULL,19552,NULL,NULL,NULL,11,NULL,NULL,NULL),(48822,'NCBI Gene PubMed Count',NULL,19553,NULL,NULL,NULL,6,NULL,NULL,NULL),(48823,'NCBI Gene PubMed Count',NULL,19554,NULL,NULL,NULL,6,NULL,NULL,NULL),(48824,'NCBI Gene PubMed Count',NULL,19555,NULL,NULL,NULL,28,NULL,NULL,NULL),(48825,'NCBI Gene Summary',NULL,19556,NULL,'This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48826,'NCBI Gene PubMed Count',NULL,19556,NULL,NULL,NULL,71,NULL,NULL,NULL),(48827,'NCBI Gene Summary',NULL,19557,NULL,'This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(48828,'NCBI Gene PubMed Count',NULL,19557,NULL,NULL,NULL,19,NULL,NULL,NULL),(48829,'NCBI Gene Summary',NULL,19558,NULL,'Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48830,'NCBI Gene PubMed Count',NULL,19558,NULL,NULL,NULL,41,NULL,NULL,NULL),(48831,'NCBI Gene PubMed Count',NULL,19559,NULL,NULL,NULL,1,NULL,NULL,NULL),(48832,'NCBI Gene Summary',NULL,19560,NULL,'Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48833,'NCBI Gene PubMed Count',NULL,19560,NULL,NULL,NULL,34,NULL,NULL,NULL),(48834,'NCBI Gene Summary',NULL,19561,NULL,'This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protein has high sequence similarity to the chondromodulin repeat regions of the chicken myb-induced myeloid 1 protein. A polymorphism in this gene may be associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48835,'NCBI Gene PubMed Count',NULL,19561,NULL,NULL,NULL,39,NULL,NULL,NULL),(48836,'NCBI Gene PubMed Count',NULL,19562,NULL,NULL,NULL,166,NULL,NULL,NULL),(48837,'NCBI Gene Summary',NULL,19563,NULL,'This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(48838,'NCBI Gene PubMed Count',NULL,19563,NULL,NULL,NULL,165,NULL,NULL,NULL),(48839,'NCBI Gene Summary',NULL,19564,NULL,'EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48840,'NCBI Gene PubMed Count',NULL,19564,NULL,NULL,NULL,17,NULL,NULL,NULL),(48841,'NCBI Gene PubMed Count',NULL,19565,NULL,NULL,NULL,7,NULL,NULL,NULL),(48842,'NCBI Gene PubMed Count',NULL,19566,NULL,NULL,NULL,2,NULL,NULL,NULL),(48843,'NCBI Gene Summary',NULL,19567,NULL,'This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48844,'NCBI Gene PubMed Count',NULL,19567,NULL,NULL,NULL,5,NULL,NULL,NULL),(48845,'NCBI Gene PubMed Count',NULL,19568,NULL,NULL,NULL,2,NULL,NULL,NULL),(48846,'NCBI Gene PubMed Count',NULL,19569,NULL,NULL,NULL,5,NULL,NULL,NULL),(48847,'NCBI Gene PubMed Count',NULL,19570,NULL,NULL,NULL,1,NULL,NULL,NULL),(48848,'NCBI Gene Summary',NULL,19571,NULL,'This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(48849,'NCBI Gene PubMed Count',NULL,19571,NULL,NULL,NULL,53,NULL,NULL,NULL),(48850,'NCBI Gene Summary',NULL,19572,NULL,'This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48851,'NCBI Gene PubMed Count',NULL,19572,NULL,NULL,NULL,6,NULL,NULL,NULL),(48852,'NCBI Gene Summary',NULL,19573,NULL,'This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. This gene is located in a cluster of similar genes on 21q22.3. Alternatively-spliced transcript variants have been identified. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(48853,'NCBI Gene PubMed Count',NULL,19573,NULL,NULL,NULL,4,NULL,NULL,NULL),(48854,'NCBI Gene PubMed Count',NULL,19574,NULL,NULL,NULL,2,NULL,NULL,NULL),(48855,'NCBI Gene PubMed Count',NULL,19575,NULL,NULL,NULL,7,NULL,NULL,NULL),(48856,'NCBI Gene PubMed Count',NULL,19576,NULL,NULL,NULL,3,NULL,NULL,NULL),(48857,'NCBI Gene PubMed Count',NULL,19577,NULL,NULL,NULL,9,NULL,NULL,NULL),(48858,'NCBI Gene PubMed Count',NULL,19578,NULL,NULL,NULL,2,NULL,NULL,NULL),(48859,'NCBI Gene PubMed Count',NULL,19579,NULL,NULL,NULL,2,NULL,NULL,NULL),(48860,'NCBI Gene PubMed Count',NULL,19580,NULL,NULL,NULL,4,NULL,NULL,NULL),(48861,'NCBI Gene PubMed Count',NULL,19581,NULL,NULL,NULL,2,NULL,NULL,NULL),(48862,'NCBI Gene PubMed Count',NULL,19582,NULL,NULL,NULL,9,NULL,NULL,NULL),(48863,'NCBI Gene Summary',NULL,19583,NULL,'This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(48864,'NCBI Gene PubMed Count',NULL,19583,NULL,NULL,NULL,23,NULL,NULL,NULL),(48865,'NCBI Gene PubMed Count',NULL,19584,NULL,NULL,NULL,9,NULL,NULL,NULL),(48866,'NCBI Gene PubMed Count',NULL,19585,NULL,NULL,NULL,9,NULL,NULL,NULL),(48867,'NCBI Gene PubMed Count',NULL,19586,NULL,NULL,NULL,6,NULL,NULL,NULL),(48868,'NCBI Gene PubMed Count',NULL,19587,NULL,NULL,NULL,2,NULL,NULL,NULL),(48869,'NCBI Gene PubMed Count',NULL,19588,NULL,NULL,NULL,7,NULL,NULL,NULL),(48870,'NCBI Gene PubMed Count',NULL,19589,NULL,NULL,NULL,7,NULL,NULL,NULL),(48871,'NCBI Gene Summary',NULL,19590,NULL,'This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(48872,'NCBI Gene PubMed Count',NULL,19590,NULL,NULL,NULL,25,NULL,NULL,NULL),(48873,'NCBI Gene PubMed Count',NULL,19591,NULL,NULL,NULL,12,NULL,NULL,NULL),(48874,'NCBI Gene PubMed Count',NULL,19592,NULL,NULL,NULL,17,NULL,NULL,NULL),(48875,'NCBI Gene PubMed Count',NULL,19593,NULL,NULL,NULL,11,NULL,NULL,NULL),(48876,'NCBI Gene Summary',NULL,19594,NULL,'This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48877,'NCBI Gene PubMed Count',NULL,19594,NULL,NULL,NULL,8,NULL,NULL,NULL),(48878,'NCBI Gene Summary',NULL,19595,NULL,'PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48879,'NCBI Gene PubMed Count',NULL,19595,NULL,NULL,NULL,18,NULL,NULL,NULL),(48880,'NCBI Gene PubMed Count',NULL,19596,NULL,NULL,NULL,17,NULL,NULL,NULL),(48881,'NCBI Gene PubMed Count',NULL,19597,NULL,NULL,NULL,13,NULL,NULL,NULL),(48882,'NCBI Gene Summary',NULL,19598,NULL,'The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Alternative splicing results in multiple transcript variants. The longer transcripts, also known as \'Cenexins\', encode proteins with a C-terminal extension that are differentially targeted to somatic centrioles and thought to be crucial for the formation of microtubule organizing centers. [provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(48883,'NCBI Gene PubMed Count',NULL,19598,NULL,NULL,NULL,29,NULL,NULL,NULL),(48884,'NCBI Gene Summary',NULL,19599,NULL,'The protein encoded by this gene localizes to centromeres, where it is essential for recruitment of CENP-A through the mediator Holliday junction recognition protein. Expression of this gene is upregulated in several cancers, making it a putative therapeutic target. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(48885,'NCBI Gene PubMed Count',NULL,19599,NULL,NULL,NULL,28,NULL,NULL,NULL),(48886,'NCBI Gene PubMed Count',NULL,19600,NULL,NULL,NULL,4,NULL,NULL,NULL),(48887,'NCBI Gene Summary',NULL,19601,NULL,'This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(48888,'NCBI Gene PubMed Count',NULL,19601,NULL,NULL,NULL,678,NULL,NULL,NULL),(48889,'NCBI Gene Summary',NULL,19602,NULL,'The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(48890,'NCBI Gene PubMed Count',NULL,19602,NULL,NULL,NULL,96,NULL,NULL,NULL),(48891,'NCBI Gene Summary',NULL,19603,NULL,'This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48892,'NCBI Gene PubMed Count',NULL,19603,NULL,NULL,NULL,328,NULL,NULL,NULL),(48893,'NCBI Gene Summary',NULL,19604,NULL,'This gene encodes an RNA-binding protein that is a member of the Musashi protein family. The encoded protein is transcriptional regulator that targets genes involved in development and cell cycle regulation. Mutations in this gene are associated with poor prognosis in certain types of cancers. This gene has also been shown to be rearranged in certain cancer cells. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(48894,'NCBI Gene PubMed Count',NULL,19604,NULL,NULL,NULL,56,NULL,NULL,NULL),(48895,'NCBI Gene PubMed Count',NULL,19605,NULL,NULL,NULL,9,NULL,NULL,NULL),(48896,'NCBI Gene Summary',NULL,19606,NULL,'This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer\'s disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48897,'NCBI Gene PubMed Count',NULL,19606,NULL,NULL,NULL,114,NULL,NULL,NULL),(48898,'NCBI Gene Summary',NULL,19607,NULL,'The protein encoded by this gene binds heavy metals and protects against toxicity from heavy metal ions. This gene is found in a cluster of similar genes on chromosome 16. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(48899,'NCBI Gene PubMed Count',NULL,19607,NULL,NULL,NULL,12,NULL,NULL,NULL),(48900,'NCBI Gene PubMed Count',NULL,19608,NULL,NULL,NULL,34,NULL,NULL,NULL),(48901,'NCBI Gene PubMed Count',NULL,19609,NULL,NULL,NULL,11,NULL,NULL,NULL),(48902,'NCBI Gene PubMed Count',NULL,19610,NULL,NULL,NULL,2,NULL,NULL,NULL),(48903,'NCBI Gene Summary',NULL,19611,NULL,'The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48904,'NCBI Gene PubMed Count',NULL,19611,NULL,NULL,NULL,48,NULL,NULL,NULL),(48905,'NCBI Gene Summary',NULL,19612,NULL,'This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(48906,'NCBI Gene PubMed Count',NULL,19612,NULL,NULL,NULL,203,NULL,NULL,NULL),(48907,'NCBI Gene PubMed Count',NULL,19613,NULL,NULL,NULL,39,NULL,NULL,NULL),(48908,'NCBI Gene Summary',NULL,19614,NULL,'This gene encodes the 70 kDa subunit of MT-A which is part of N6-adenosine-methyltransferase. This enzyme is involved in the posttranscriptional methylation of internal adenosine residues in eukaryotic mRNAs, forming N6-methyladenosine. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48909,'NCBI Gene PubMed Count',NULL,19614,NULL,NULL,NULL,43,NULL,NULL,NULL),(48910,'NCBI Gene Summary',NULL,19615,NULL,'The protein encoded by this gene is a G protein-coupled receptor for sphingosylphosphorylcholine. The encoded protein is a proton-sensing receptor, inactive at pH 7.8 but active at pH 6.8. Mutations in this gene are a cause of amelogenesis imperfecta. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(48911,'NCBI Gene PubMed Count',NULL,19615,NULL,NULL,NULL,37,NULL,NULL,NULL),(48912,'NCBI Gene PubMed Count',NULL,19616,NULL,NULL,NULL,4,NULL,NULL,NULL),(48913,'NCBI Gene Summary',NULL,19617,NULL,'This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48914,'NCBI Gene PubMed Count',NULL,19617,NULL,NULL,NULL,31,NULL,NULL,NULL),(48915,'NCBI Gene PubMed Count',NULL,19618,NULL,NULL,NULL,13,NULL,NULL,NULL),(48916,'NCBI Gene Summary',NULL,19619,NULL,'MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48917,'NCBI Gene PubMed Count',NULL,19619,NULL,NULL,NULL,18,NULL,NULL,NULL),(48918,'NCBI Gene PubMed Count',NULL,19620,NULL,NULL,NULL,8,NULL,NULL,NULL),(48919,'NCBI Gene Summary',NULL,19621,NULL,'This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5\'-region of the runt-related transcription factor 1 gene fused to the 3\'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(48920,'NCBI Gene PubMed Count',NULL,19621,NULL,NULL,NULL,39,NULL,NULL,NULL),(48921,'NCBI Gene Summary',NULL,19622,NULL,'This gene encodes a member of the olfactomedin-like gene family which also includes genes encoding noelin, tiarin, myocilin, amassin, optimedin, photomedin, and latrophilin. The encoded protein is a secreted extracellular matrix glycoprotein with a C-terminal olfactomedin domain that facilitates protein-protein interactions, cell adhesion, and intercellular interactions. It serves as both a scaffold protein that recruits bone morphogenetic protein 1 to its substrate chordin, and as a vascular tissue remodeler with pro-angiogenic properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(48922,'NCBI Gene PubMed Count',NULL,19622,NULL,NULL,NULL,18,NULL,NULL,NULL),(48923,'NCBI Gene Summary',NULL,19623,NULL,'The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(48924,'NCBI Gene PubMed Count',NULL,19623,NULL,NULL,NULL,24,NULL,NULL,NULL),(48925,'NCBI Gene Summary',NULL,19624,NULL,'The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(48926,'NCBI Gene PubMed Count',NULL,19624,NULL,NULL,NULL,3409,NULL,NULL,NULL),(48927,'NCBI Gene PubMed Count',NULL,19625,NULL,NULL,NULL,8,NULL,NULL,NULL),(48928,'NCBI Gene PubMed Count',NULL,19626,NULL,NULL,NULL,12,NULL,NULL,NULL),(48929,'NCBI Gene Summary',NULL,19627,NULL,'The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48930,'NCBI Gene PubMed Count',NULL,19627,NULL,NULL,NULL,56,NULL,NULL,NULL),(48931,'NCBI Gene Summary',NULL,19628,NULL,'The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48932,'NCBI Gene PubMed Count',NULL,19628,NULL,NULL,NULL,47,NULL,NULL,NULL),(48933,'NCBI Gene PubMed Count',NULL,19629,NULL,NULL,NULL,16,NULL,NULL,NULL),(48934,'NCBI Gene Summary',NULL,19630,NULL,'This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(48935,'NCBI Gene PubMed Count',NULL,19630,NULL,NULL,NULL,334,NULL,NULL,NULL),(48936,'NCBI Gene Summary',NULL,19631,NULL,'LY6G5C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48937,'NCBI Gene PubMed Count',NULL,19631,NULL,NULL,NULL,5,NULL,NULL,NULL),(48938,'NCBI Gene Summary',NULL,19632,NULL,'This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48939,'NCBI Gene PubMed Count',NULL,19632,NULL,NULL,NULL,40,NULL,NULL,NULL),(48940,'NCBI Gene PubMed Count',NULL,19633,NULL,NULL,NULL,8,NULL,NULL,NULL),(48941,'NCBI Gene Summary',NULL,19634,NULL,'This gene belongs to the non-CT (non cancer/testis) subgroup of the melanoma-associated antigen (MAGE) superfamily. The encoded protein is likely associated with apoptosis, cell cycle arrest, growth inhibition or cell differentiation. The protein may be involved in the atRA (all-trans retinoic acid) signaling through the STAT1-alpha (signal transducer and activator of transcription 1-alpha) pathway. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(48942,'NCBI Gene PubMed Count',NULL,19634,NULL,NULL,NULL,18,NULL,NULL,NULL),(48943,'NCBI Gene PubMed Count',NULL,19635,NULL,NULL,NULL,20,NULL,NULL,NULL),(48944,'NCBI Gene Summary',NULL,19636,NULL,'This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(48945,'NCBI Gene PubMed Count',NULL,19636,NULL,NULL,NULL,33,NULL,NULL,NULL),(48946,'NCBI Gene PubMed Count',NULL,19637,NULL,NULL,NULL,19,NULL,NULL,NULL),(48947,'NCBI Gene Summary',NULL,19638,NULL,'MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(48948,'NCBI Gene PubMed Count',NULL,19638,NULL,NULL,NULL,29,NULL,NULL,NULL),(48949,'NCBI Gene PubMed Count',NULL,19639,NULL,NULL,NULL,39,NULL,NULL,NULL),(48950,'NCBI Gene PubMed Count',NULL,19640,NULL,NULL,NULL,22,NULL,NULL,NULL),(48951,'NCBI Gene Summary',NULL,19641,NULL,'This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(48952,'NCBI Gene PubMed Count',NULL,19641,NULL,NULL,NULL,97,NULL,NULL,NULL),(48953,'NCBI Gene Summary',NULL,19642,NULL,'This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(48954,'NCBI Gene PubMed Count',NULL,19642,NULL,NULL,NULL,10,NULL,NULL,NULL),(48955,'NCBI Gene PubMed Count',NULL,19643,NULL,NULL,NULL,12,NULL,NULL,NULL),(48956,'NCBI Gene Summary',NULL,19644,NULL,'This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(48957,'NCBI Gene PubMed Count',NULL,19644,NULL,NULL,NULL,20,NULL,NULL,NULL),(48958,'NCBI Gene Summary',NULL,19645,NULL,'Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(48959,'NCBI Gene PubMed Count',NULL,19645,NULL,NULL,NULL,42,NULL,NULL,NULL),(48960,'NCBI Gene PubMed Count',NULL,19646,NULL,NULL,NULL,8,NULL,NULL,NULL),(48961,'NCBI Gene Summary',NULL,19647,NULL,'The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(48962,'NCBI Gene PubMed Count',NULL,19647,NULL,NULL,NULL,15,NULL,NULL,NULL),(48963,'NCBI Gene Summary',NULL,19648,NULL,'The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48964,'NCBI Gene PubMed Count',NULL,19648,NULL,NULL,NULL,23,NULL,NULL,NULL),(48965,'NCBI Gene Summary',NULL,19649,NULL,'The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(48966,'NCBI Gene PubMed Count',NULL,19649,NULL,NULL,NULL,38,NULL,NULL,NULL),(48967,'NCBI Gene Summary',NULL,19650,NULL,'Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48968,'NCBI Gene PubMed Count',NULL,19650,NULL,NULL,NULL,29,NULL,NULL,NULL),(48969,'NCBI Gene Summary',NULL,19651,NULL,'MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(48970,'NCBI Gene PubMed Count',NULL,19651,NULL,NULL,NULL,10,NULL,NULL,NULL),(48971,'NCBI Gene PubMed Count',NULL,19652,NULL,NULL,NULL,0,NULL,NULL,NULL),(48972,'NCBI Gene Summary',NULL,19653,NULL,'This gene is a member of a family of methyltransferases that share homology with, but are distinct from, the UbiE family of methyltransferases. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48973,'NCBI Gene PubMed Count',NULL,19653,NULL,NULL,NULL,10,NULL,NULL,NULL),(48974,'NCBI Gene PubMed Count',NULL,19654,NULL,NULL,NULL,7,NULL,NULL,NULL),(48975,'NCBI Gene Summary',NULL,19655,NULL,'This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48976,'NCBI Gene PubMed Count',NULL,19655,NULL,NULL,NULL,18,NULL,NULL,NULL),(48977,'NCBI Gene Summary',NULL,19656,NULL,'The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]',NULL,NULL,NULL,NULL,NULL),(48978,'NCBI Gene PubMed Count',NULL,19656,NULL,NULL,NULL,43,NULL,NULL,NULL),(48979,'NCBI Gene Summary',NULL,19657,NULL,'This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48980,'NCBI Gene PubMed Count',NULL,19657,NULL,NULL,NULL,54,NULL,NULL,NULL),(48981,'NCBI Gene PubMed Count',NULL,19658,NULL,NULL,NULL,17,NULL,NULL,NULL),(48982,'NCBI Gene Summary',NULL,19659,NULL,'B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(48983,'NCBI Gene PubMed Count',NULL,19659,NULL,NULL,NULL,25,NULL,NULL,NULL),(48984,'NCBI Gene PubMed Count',NULL,19660,NULL,NULL,NULL,8,NULL,NULL,NULL),(48985,'NCBI Gene Summary',NULL,19661,NULL,'Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(48986,'NCBI Gene PubMed Count',NULL,19661,NULL,NULL,NULL,7,NULL,NULL,NULL),(48987,'NCBI Gene Summary',NULL,19662,NULL,'The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(48988,'NCBI Gene PubMed Count',NULL,19662,NULL,NULL,NULL,140,NULL,NULL,NULL),(48989,'NCBI Gene Summary',NULL,19663,NULL,'This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(48990,'NCBI Gene PubMed Count',NULL,19663,NULL,NULL,NULL,28,NULL,NULL,NULL),(48991,'NCBI Gene Summary',NULL,19664,NULL,'This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(48992,'NCBI Gene PubMed Count',NULL,19664,NULL,NULL,NULL,104,NULL,NULL,NULL),(48993,'NCBI Gene PubMed Count',NULL,19665,NULL,NULL,NULL,21,NULL,NULL,NULL),(48994,'NCBI Gene Summary',NULL,19666,NULL,'There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(48995,'NCBI Gene PubMed Count',NULL,19666,NULL,NULL,NULL,33,NULL,NULL,NULL),(48996,'NCBI Gene Summary',NULL,19667,NULL,'This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(48997,'NCBI Gene PubMed Count',NULL,19667,NULL,NULL,NULL,16,NULL,NULL,NULL),(48998,'NCBI Gene PubMed Count',NULL,19668,NULL,NULL,NULL,4,NULL,NULL,NULL),(48999,'NCBI Gene Summary',NULL,19669,NULL,'The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(49000,'NCBI Gene PubMed Count',NULL,19669,NULL,NULL,NULL,35,NULL,NULL,NULL),(49001,'NCBI Gene PubMed Count',NULL,19670,NULL,NULL,NULL,1,NULL,NULL,NULL),(49002,'NCBI Gene Summary',NULL,19671,NULL,'This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(49003,'NCBI Gene PubMed Count',NULL,19671,NULL,NULL,NULL,43,NULL,NULL,NULL),(49004,'NCBI Gene Summary',NULL,19672,NULL,'Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49005,'NCBI Gene PubMed Count',NULL,19672,NULL,NULL,NULL,11,NULL,NULL,NULL),(49006,'NCBI Gene PubMed Count',NULL,19673,NULL,NULL,NULL,46,NULL,NULL,NULL),(49007,'NCBI Gene PubMed Count',NULL,19674,NULL,NULL,NULL,9,NULL,NULL,NULL),(49008,'NCBI Gene Summary',NULL,19675,NULL,'LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(49009,'NCBI Gene PubMed Count',NULL,19675,NULL,NULL,NULL,16,NULL,NULL,NULL),(49010,'NCBI Gene Summary',NULL,19676,NULL,'This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49011,'NCBI Gene PubMed Count',NULL,19676,NULL,NULL,NULL,19,NULL,NULL,NULL),(49012,'NCBI Gene PubMed Count',NULL,19677,NULL,NULL,NULL,8,NULL,NULL,NULL),(49013,'NCBI Gene Summary',NULL,19678,NULL,'Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(49014,'NCBI Gene PubMed Count',NULL,19678,NULL,NULL,NULL,26,NULL,NULL,NULL),(49015,'NCBI Gene PubMed Count',NULL,19679,NULL,NULL,NULL,22,NULL,NULL,NULL),(49016,'NCBI Gene Summary',NULL,19680,NULL,'This gene is similar to the oncomodulin gene, a high-affinity calcium ion-binding protein that belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49017,'NCBI Gene PubMed Count',NULL,19680,NULL,NULL,NULL,20,NULL,NULL,NULL),(49018,'NCBI Gene Summary',NULL,19681,NULL,'Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(49019,'NCBI Gene PubMed Count',NULL,19681,NULL,NULL,NULL,15,NULL,NULL,NULL),(49020,'NCBI Gene Summary',NULL,19682,NULL,'The protein encoded by this gene is orthologous to the mouse osteoclast stimulatory transmembrane protein (OCSTAMP), which is a membrane-anchored cell surface receptor that promotes nucleation of osteoclasts. The mouse protein is also involved in bone resorption and osteoclast differentiation. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(49021,'NCBI Gene PubMed Count',NULL,19682,NULL,NULL,NULL,4,NULL,NULL,NULL),(49022,'NCBI Gene PubMed Count',NULL,19683,NULL,NULL,NULL,9,NULL,NULL,NULL),(49023,'NCBI Gene Summary',NULL,19684,NULL,'The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(49024,'NCBI Gene PubMed Count',NULL,19684,NULL,NULL,NULL,328,NULL,NULL,NULL),(49025,'NCBI Gene Summary',NULL,19685,NULL,'This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family. Members of this family play a role in cytoskeletal regulation, protein kinase C signaling and calmodulin signaling. The encoded protein affects the formation of adherens junction. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on the long arm of chromosomes 6 and 10. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(49026,'NCBI Gene PubMed Count',NULL,19685,NULL,NULL,NULL,28,NULL,NULL,NULL),(49027,'NCBI Gene Summary',NULL,19686,NULL,'This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(49028,'NCBI Gene PubMed Count',NULL,19686,NULL,NULL,NULL,40,NULL,NULL,NULL),(49029,'NCBI Gene PubMed Count',NULL,19687,NULL,NULL,NULL,7,NULL,NULL,NULL),(49030,'NCBI Gene PubMed Count',NULL,19688,NULL,NULL,NULL,3,NULL,NULL,NULL),(49031,'NCBI Gene PubMed Count',NULL,19689,NULL,NULL,NULL,3,NULL,NULL,NULL),(49032,'NCBI Gene Summary',NULL,19690,NULL,'SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(49033,'NCBI Gene PubMed Count',NULL,19690,NULL,NULL,NULL,12,NULL,NULL,NULL),(49034,'NCBI Gene PubMed Count',NULL,19691,NULL,NULL,NULL,6,NULL,NULL,NULL),(49035,'NCBI Gene Summary',NULL,19692,NULL,'The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(49036,'NCBI Gene PubMed Count',NULL,19692,NULL,NULL,NULL,115,NULL,NULL,NULL),(49037,'NCBI Gene Summary',NULL,19693,NULL,'The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. The human outer dense fibers contains at least 10 major proteins and this gene encodes the main protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49038,'NCBI Gene PubMed Count',NULL,19693,NULL,NULL,NULL,24,NULL,NULL,NULL),(49039,'NCBI Gene Summary',NULL,19694,NULL,'This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(49040,'NCBI Gene PubMed Count',NULL,19694,NULL,NULL,NULL,12,NULL,NULL,NULL),(49041,'NCBI Gene PubMed Count',NULL,19695,NULL,NULL,NULL,1,NULL,NULL,NULL),(49042,'NCBI Gene Summary',NULL,19696,NULL,'This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49043,'NCBI Gene PubMed Count',NULL,19696,NULL,NULL,NULL,18,NULL,NULL,NULL),(49044,'NCBI Gene Summary',NULL,19697,NULL,'This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Though this member is not expressed in hematopoietic cells specifically, it may be involved in signal transduction like many of its related family members. The gene encoding this protein is localized to 11q12, among a cluster of family members. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49045,'NCBI Gene PubMed Count',NULL,19697,NULL,NULL,NULL,7,NULL,NULL,NULL),(49046,'NCBI Gene Summary',NULL,19698,NULL,'This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49047,'NCBI Gene PubMed Count',NULL,19698,NULL,NULL,NULL,10,NULL,NULL,NULL),(49048,'NCBI Gene PubMed Count',NULL,19699,NULL,NULL,NULL,21,NULL,NULL,NULL),(49049,'NCBI Gene PubMed Count',NULL,19700,NULL,NULL,NULL,4,NULL,NULL,NULL),(49050,'NCBI Gene Summary',NULL,19701,NULL,'The protein encoded by this gene is a component of the Hippo signaling pathway, which controls organ size and tumor growth by enhancing apoptosis. Loss of the encoded protein results in cell proliferation and cancer formation. The encoded protein is also involved in the control of microtubule stability during cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(49051,'NCBI Gene PubMed Count',NULL,19701,NULL,NULL,NULL,37,NULL,NULL,NULL),(49052,'NCBI Gene Summary',NULL,19702,NULL,'The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(49053,'NCBI Gene PubMed Count',NULL,19702,NULL,NULL,NULL,14,NULL,NULL,NULL),(49054,'NCBI Gene Summary',NULL,19703,NULL,'This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene has shortened LRR and ubiquitin-associated domains and its RDB is unable to bind RNA. It is located in the nucleoplasm but is not associated with either the nuclear envelope or the nucleolus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49055,'NCBI Gene PubMed Count',NULL,19703,NULL,NULL,NULL,13,NULL,NULL,NULL),(49056,'NCBI Gene Summary',NULL,19704,NULL,'Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of those factors and is similar to a truncated form of thioredoxin. This gene has been proposed to have therapeutic value against RP. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(49057,'NCBI Gene PubMed Count',NULL,19704,NULL,NULL,NULL,12,NULL,NULL,NULL),(49058,'NCBI Gene PubMed Count',NULL,19705,NULL,NULL,NULL,16,NULL,NULL,NULL),(49059,'NCBI Gene PubMed Count',NULL,19706,NULL,NULL,NULL,9,NULL,NULL,NULL),(49060,'NCBI Gene PubMed Count',NULL,19707,NULL,NULL,NULL,8,NULL,NULL,NULL),(49061,'NCBI Gene Summary',NULL,19708,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49062,'NCBI Gene PubMed Count',NULL,19708,NULL,NULL,NULL,1,NULL,NULL,NULL),(49063,'NCBI Gene Summary',NULL,19709,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49064,'NCBI Gene PubMed Count',NULL,19709,NULL,NULL,NULL,3,NULL,NULL,NULL),(49065,'NCBI Gene Summary',NULL,19710,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(49066,'NCBI Gene PubMed Count',NULL,19710,NULL,NULL,NULL,7,NULL,NULL,NULL),(49067,'NCBI Gene Summary',NULL,19711,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49068,'NCBI Gene PubMed Count',NULL,19711,NULL,NULL,NULL,4,NULL,NULL,NULL),(49069,'NCBI Gene Summary',NULL,19712,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49070,'NCBI Gene PubMed Count',NULL,19712,NULL,NULL,NULL,5,NULL,NULL,NULL),(49071,'NCBI Gene Summary',NULL,19713,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49072,'NCBI Gene PubMed Count',NULL,19713,NULL,NULL,NULL,3,NULL,NULL,NULL),(49073,'NCBI Gene Summary',NULL,19714,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49074,'NCBI Gene PubMed Count',NULL,19714,NULL,NULL,NULL,9,NULL,NULL,NULL),(49075,'NCBI Gene Summary',NULL,19715,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49076,'NCBI Gene PubMed Count',NULL,19715,NULL,NULL,NULL,5,NULL,NULL,NULL),(49077,'NCBI Gene Summary',NULL,19716,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49078,'NCBI Gene PubMed Count',NULL,19716,NULL,NULL,NULL,5,NULL,NULL,NULL),(49079,'NCBI Gene Summary',NULL,19717,NULL,'Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49080,'NCBI Gene PubMed Count',NULL,19717,NULL,NULL,NULL,182,NULL,NULL,NULL),(49081,'NCBI Gene PubMed Count',NULL,19718,NULL,NULL,NULL,14,NULL,NULL,NULL),(49082,'NCBI Gene Summary',NULL,19719,NULL,'This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(49083,'NCBI Gene PubMed Count',NULL,19719,NULL,NULL,NULL,14,NULL,NULL,NULL),(49084,'NCBI Gene Summary',NULL,19720,NULL,'In human, the four current members of the microrchidia (morc) gene family share an N-terminal ATPase-like ATP-binding region and a CW four-cysteine zinc-finger motif. The protein encoded by this gene also has a nuclear matrix binding domain and a two-stranded coiled-coil motif near its C-terminus. This gene is widely expressed at low levels in normal tissues and has elevated expression in placenta and testis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(49085,'NCBI Gene PubMed Count',NULL,19720,NULL,NULL,NULL,14,NULL,NULL,NULL),(49086,'NCBI Gene Summary',NULL,19721,NULL,'This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(49087,'NCBI Gene PubMed Count',NULL,19721,NULL,NULL,NULL,9,NULL,NULL,NULL),(49088,'NCBI Gene PubMed Count',NULL,19722,NULL,NULL,NULL,6,NULL,NULL,NULL),(49089,'NCBI Gene PubMed Count',NULL,19723,NULL,NULL,NULL,9,NULL,NULL,NULL),(49090,'NCBI Gene PubMed Count',NULL,19724,NULL,NULL,NULL,7,NULL,NULL,NULL),(49091,'NCBI Gene PubMed Count',NULL,19725,NULL,NULL,NULL,9,NULL,NULL,NULL),(49092,'NCBI Gene Summary',NULL,19726,NULL,'This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(49093,'NCBI Gene PubMed Count',NULL,19726,NULL,NULL,NULL,32,NULL,NULL,NULL),(49094,'NCBI Gene Summary',NULL,19728,NULL,'SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(49095,'NCBI Gene PubMed Count',NULL,19728,NULL,NULL,NULL,11,NULL,NULL,NULL),(49096,'NCBI Gene PubMed Count',NULL,19729,NULL,NULL,NULL,7,NULL,NULL,NULL),(49097,'NCBI Gene Summary',NULL,19730,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49098,'NCBI Gene PubMed Count',NULL,19730,NULL,NULL,NULL,3,NULL,NULL,NULL),(49099,'NCBI Gene Summary',NULL,19731,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(49100,'NCBI Gene PubMed Count',NULL,19731,NULL,NULL,NULL,5,NULL,NULL,NULL),(49101,'NCBI Gene Summary',NULL,19732,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49102,'NCBI Gene PubMed Count',NULL,19732,NULL,NULL,NULL,3,NULL,NULL,NULL),(49103,'NCBI Gene Summary',NULL,19733,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49104,'NCBI Gene PubMed Count',NULL,19733,NULL,NULL,NULL,2,NULL,NULL,NULL),(49105,'NCBI Gene Summary',NULL,19734,NULL,'The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(49106,'NCBI Gene PubMed Count',NULL,19734,NULL,NULL,NULL,19,NULL,NULL,NULL),(49107,'NCBI Gene Summary',NULL,19735,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49108,'NCBI Gene PubMed Count',NULL,19735,NULL,NULL,NULL,1,NULL,NULL,NULL),(49109,'NCBI Gene Summary',NULL,19736,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49110,'NCBI Gene PubMed Count',NULL,19736,NULL,NULL,NULL,2,NULL,NULL,NULL),(49111,'NCBI Gene PubMed Count',NULL,19737,NULL,NULL,NULL,5,NULL,NULL,NULL),(49112,'NCBI Gene PubMed Count',NULL,19738,NULL,NULL,NULL,17,NULL,NULL,NULL),(49113,'NCBI Gene PubMed Count',NULL,19739,NULL,NULL,NULL,39,NULL,NULL,NULL),(49114,'NCBI Gene PubMed Count',NULL,19740,NULL,NULL,NULL,23,NULL,NULL,NULL),(49115,'NCBI Gene Summary',NULL,19741,NULL,'This gene encodes a member of the metallothionein superfamily, type 1 family. Metallothioneins have a high content of cysteine residues that bind various heavy metals. These genes are transcriptionally regulated by both heavy metals and glucocorticoids. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(49116,'NCBI Gene PubMed Count',NULL,19741,NULL,NULL,NULL,15,NULL,NULL,NULL),(49117,'NCBI Gene PubMed Count',NULL,19742,NULL,NULL,NULL,31,NULL,NULL,NULL),(49118,'NCBI Gene PubMed Count',NULL,19743,NULL,NULL,NULL,5,NULL,NULL,NULL),(49119,'NCBI Gene Summary',NULL,19744,NULL,'Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(49120,'NCBI Gene PubMed Count',NULL,19744,NULL,NULL,NULL,15,NULL,NULL,NULL),(49121,'NCBI Gene Summary',NULL,19745,NULL,'This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions, altering the intracellular concentration of heavy metals in the cell. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. The encoded protein interacts with the protein encoded by the homeobox containing 1 gene in some cell types, controlling intracellular zinc levels, affecting apoptotic and autophagy pathways. Some polymorphisms in this gene are associated with an increased risk of cancer. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(49122,'NCBI Gene PubMed Count',NULL,19745,NULL,NULL,NULL,115,NULL,NULL,NULL),(49123,'NCBI Gene Summary',NULL,19746,NULL,'This gene encodes a protein that has been identified as a component of NuRD, a nucleosome remodeling deacetylase complex identified in the nucleus of human cells. It shows a very broad expression pattern and is strongly expressed in many tissues. It may represent one member of a small gene family that encode different but related proteins involved either directly or indirectly in transcriptional regulation. Their indirect effects on transcriptional regulation may include chromatin remodeling. It is closely related to another member of this family, a protein that has been correlated with the metastatic potential of certain carcinomas. These two proteins are so closely related that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. One of the proteins known to be a target protein for this gene product is p53. Deacetylation of p53 is correlated with a loss of growth inhibition in transformed cells supporting a connection between these gene family members and metastasis. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(49124,'NCBI Gene PubMed Count',NULL,19746,NULL,NULL,NULL,63,NULL,NULL,NULL),(49125,'NCBI Gene PubMed Count',NULL,19747,NULL,NULL,NULL,7,NULL,NULL,NULL),(49126,'NCBI Gene PubMed Count',NULL,19748,NULL,NULL,NULL,3,NULL,NULL,NULL),(49127,'NCBI Gene Summary',NULL,19749,NULL,'The protein encoded by this gene is a receptor for opioid growth factor (OGF), also known as [Met(5)]-enkephalin. OGF is a negative regulator of cell proliferation and tissue organization in a variety of processes. The encoded unbound receptor for OGF has been localized to the outer nuclear envelope, where it binds OGF and is translocated into the nucleus. The coding sequence of this gene contains a polymorphic region of 60 nt tandem imperfect repeat units. Several transcripts containing between zero and eight repeat units have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49128,'NCBI Gene PubMed Count',NULL,19749,NULL,NULL,NULL,26,NULL,NULL,NULL),(49129,'NCBI Gene PubMed Count',NULL,19750,NULL,NULL,NULL,9,NULL,NULL,NULL),(49130,'NCBI Gene PubMed Count',NULL,19751,NULL,NULL,NULL,13,NULL,NULL,NULL),(49131,'NCBI Gene PubMed Count',NULL,19752,NULL,NULL,NULL,12,NULL,NULL,NULL),(49132,'NCBI Gene Summary',NULL,19753,NULL,'This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49133,'NCBI Gene PubMed Count',NULL,19753,NULL,NULL,NULL,43,NULL,NULL,NULL),(49134,'NCBI Gene PubMed Count',NULL,19754,NULL,NULL,NULL,6,NULL,NULL,NULL),(49135,'NCBI Gene PubMed Count',NULL,19755,NULL,NULL,NULL,21,NULL,NULL,NULL),(49136,'NCBI Gene PubMed Count',NULL,19756,NULL,NULL,NULL,5,NULL,NULL,NULL),(49137,'NCBI Gene PubMed Count',NULL,19757,NULL,NULL,NULL,22,NULL,NULL,NULL),(49138,'NCBI Gene PubMed Count',NULL,19758,NULL,NULL,NULL,5,NULL,NULL,NULL),(49139,'NCBI Gene Summary',NULL,19759,NULL,'Motilin is a 22 amino acid peptide hormone expressed throughout the gastrointestinal (GI) tract. The protein encoded by this gene is a motilin receptor which is a member of the G-protein coupled receptor 1 family. This member is a multi-pass transmembrane protein, and is an important therapeutic target for the treatment of hypomotility disorders. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(49140,'NCBI Gene PubMed Count',NULL,19759,NULL,NULL,NULL,17,NULL,NULL,NULL),(49141,'NCBI Gene Summary',NULL,19760,NULL,'This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49142,'NCBI Gene PubMed Count',NULL,19760,NULL,NULL,NULL,72,NULL,NULL,NULL),(49143,'NCBI Gene Summary',NULL,19761,NULL,'This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(49144,'NCBI Gene PubMed Count',NULL,19761,NULL,NULL,NULL,15,NULL,NULL,NULL),(49145,'NCBI Gene PubMed Count',NULL,19762,NULL,NULL,NULL,18,NULL,NULL,NULL),(49146,'NCBI Gene Summary',NULL,19763,NULL,'This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(49147,'NCBI Gene PubMed Count',NULL,19763,NULL,NULL,NULL,23,NULL,NULL,NULL),(49148,'NCBI Gene Summary',NULL,19764,NULL,'This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(49149,'NCBI Gene PubMed Count',NULL,19764,NULL,NULL,NULL,8,NULL,NULL,NULL),(49150,'NCBI Gene Summary',NULL,19765,NULL,'Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(49151,'NCBI Gene PubMed Count',NULL,19765,NULL,NULL,NULL,10,NULL,NULL,NULL),(49152,'NCBI Gene Summary',NULL,19766,NULL,'APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(49153,'NCBI Gene PubMed Count',NULL,19766,NULL,NULL,NULL,22,NULL,NULL,NULL),(49154,'NCBI Gene Summary',NULL,19767,NULL,'This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(49155,'NCBI Gene PubMed Count',NULL,19767,NULL,NULL,NULL,18,NULL,NULL,NULL),(49156,'NCBI Gene Summary',NULL,19768,NULL,'This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49157,'NCBI Gene PubMed Count',NULL,19768,NULL,NULL,NULL,9,NULL,NULL,NULL),(49158,'NCBI Gene PubMed Count',NULL,19769,NULL,NULL,NULL,3,NULL,NULL,NULL),(49159,'NCBI Gene Summary',NULL,19770,NULL,'The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49160,'NCBI Gene PubMed Count',NULL,19770,NULL,NULL,NULL,42,NULL,NULL,NULL),(49161,'NCBI Gene PubMed Count',NULL,19771,NULL,NULL,NULL,2,NULL,NULL,NULL),(49162,'NCBI Gene Summary',NULL,19772,NULL,'This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(49163,'NCBI Gene PubMed Count',NULL,19772,NULL,NULL,NULL,3,NULL,NULL,NULL),(49164,'NCBI Gene Summary',NULL,19773,NULL,'The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012]',NULL,NULL,NULL,NULL,NULL),(49165,'NCBI Gene PubMed Count',NULL,19773,NULL,NULL,NULL,155,NULL,NULL,NULL),(49166,'NCBI Gene Summary',NULL,19774,NULL,'This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(49167,'NCBI Gene PubMed Count',NULL,19774,NULL,NULL,NULL,34,NULL,NULL,NULL),(49168,'NCBI Gene Summary',NULL,19775,NULL,'Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49169,'NCBI Gene PubMed Count',NULL,19775,NULL,NULL,NULL,47,NULL,NULL,NULL),(49170,'NCBI Gene Summary',NULL,19776,NULL,'This gene encodes a member of the MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) protein family. Members of this family are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes an enzyme which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. This enzyme also demonstrates glutathione-dependent peroxidase activity towards lipid hydroperoxides.[provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(49171,'NCBI Gene PubMed Count',NULL,19776,NULL,NULL,NULL,19,NULL,NULL,NULL),(49172,'NCBI Gene PubMed Count',NULL,19777,NULL,NULL,NULL,4,NULL,NULL,NULL),(49173,'NCBI Gene Summary',NULL,19778,NULL,'This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49174,'NCBI Gene PubMed Count',NULL,19778,NULL,NULL,NULL,12,NULL,NULL,NULL),(49175,'NCBI Gene PubMed Count',NULL,19779,NULL,NULL,NULL,7,NULL,NULL,NULL),(49176,'NCBI Gene PubMed Count',NULL,19780,NULL,NULL,NULL,17,NULL,NULL,NULL),(49177,'NCBI Gene PubMed Count',NULL,19781,NULL,NULL,NULL,27,NULL,NULL,NULL),(49178,'NCBI Gene Summary',NULL,19782,NULL,'This gene encodes a protein that was first identified in Xenopus laevis by its role in a mesoderm induction early response (MIER). The encoded protein functions as a transcriptional regulator. Alternatively spliced transcript variants encode multiple isoforms, some of which lack a C-terminal nuclear localization signal. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(49179,'NCBI Gene PubMed Count',NULL,19782,NULL,NULL,NULL,27,NULL,NULL,NULL),(49180,'NCBI Gene PubMed Count',NULL,19783,NULL,NULL,NULL,5,NULL,NULL,NULL),(49181,'NCBI Gene PubMed Count',NULL,19784,NULL,NULL,NULL,4,NULL,NULL,NULL),(49182,'NCBI Gene PubMed Count',NULL,19785,NULL,NULL,NULL,23,NULL,NULL,NULL),(49183,'NCBI Gene PubMed Count',NULL,19786,NULL,NULL,NULL,27,NULL,NULL,NULL),(49184,'NCBI Gene Summary',NULL,19787,NULL,'This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded protein induces ectopic bone formation in conjunction with transforming growth factor beta and may regulate osteoblast differentiation. High expression of the encoded protein may be associated with elevated heart left ventricular mass. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(49185,'NCBI Gene PubMed Count',NULL,19787,NULL,NULL,NULL,55,NULL,NULL,NULL),(49186,'NCBI Gene Summary',NULL,19788,NULL,'The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49187,'NCBI Gene PubMed Count',NULL,19788,NULL,NULL,NULL,60,NULL,NULL,NULL),(49188,'NCBI Gene PubMed Count',NULL,19789,NULL,NULL,NULL,11,NULL,NULL,NULL),(49189,'NCBI Gene Summary',NULL,19790,NULL,'Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49190,'NCBI Gene PubMed Count',NULL,19790,NULL,NULL,NULL,77,NULL,NULL,NULL),(49191,'NCBI Gene Summary',NULL,19791,NULL,'This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(49192,'NCBI Gene PubMed Count',NULL,19791,NULL,NULL,NULL,13,NULL,NULL,NULL),(49193,'NCBI Gene Summary',NULL,19792,NULL,'Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(49194,'NCBI Gene PubMed Count',NULL,19792,NULL,NULL,NULL,23,NULL,NULL,NULL),(49195,'NCBI Gene PubMed Count',NULL,19793,NULL,NULL,NULL,81,NULL,NULL,NULL),(49196,'NCBI Gene Summary',NULL,19794,NULL,'This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(49197,'NCBI Gene PubMed Count',NULL,19794,NULL,NULL,NULL,10,NULL,NULL,NULL),(49198,'NCBI Gene PubMed Count',NULL,19795,NULL,NULL,NULL,10,NULL,NULL,NULL),(49199,'NCBI Gene Summary',NULL,19796,NULL,'This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(49200,'NCBI Gene PubMed Count',NULL,19796,NULL,NULL,NULL,10,NULL,NULL,NULL),(49201,'NCBI Gene Summary',NULL,19797,NULL,'The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49202,'NCBI Gene PubMed Count',NULL,19797,NULL,NULL,NULL,333,NULL,NULL,NULL),(49203,'NCBI Gene Summary',NULL,19798,NULL,'The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(49204,'NCBI Gene PubMed Count',NULL,19798,NULL,NULL,NULL,144,NULL,NULL,NULL),(49205,'NCBI Gene Summary',NULL,19799,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49206,'NCBI Gene PubMed Count',NULL,19799,NULL,NULL,NULL,5,NULL,NULL,NULL),(49207,'NCBI Gene Summary',NULL,19800,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49208,'NCBI Gene PubMed Count',NULL,19800,NULL,NULL,NULL,2,NULL,NULL,NULL),(49209,'NCBI Gene Summary',NULL,19801,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49210,'NCBI Gene PubMed Count',NULL,19801,NULL,NULL,NULL,1,NULL,NULL,NULL),(49211,'NCBI Gene Summary',NULL,19802,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49212,'NCBI Gene PubMed Count',NULL,19802,NULL,NULL,NULL,4,NULL,NULL,NULL),(49213,'NCBI Gene Summary',NULL,19803,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49214,'NCBI Gene PubMed Count',NULL,19803,NULL,NULL,NULL,5,NULL,NULL,NULL),(49215,'NCBI Gene Summary',NULL,19804,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49216,'NCBI Gene PubMed Count',NULL,19804,NULL,NULL,NULL,1,NULL,NULL,NULL),(49217,'NCBI Gene Summary',NULL,19805,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]',NULL,NULL,NULL,NULL,NULL),(49218,'NCBI Gene PubMed Count',NULL,19805,NULL,NULL,NULL,7,NULL,NULL,NULL),(49219,'NCBI Gene Summary',NULL,19806,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49220,'NCBI Gene PubMed Count',NULL,19806,NULL,NULL,NULL,5,NULL,NULL,NULL),(49221,'NCBI Gene Summary',NULL,19807,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49222,'NCBI Gene PubMed Count',NULL,19807,NULL,NULL,NULL,7,NULL,NULL,NULL),(49223,'NCBI Gene Summary',NULL,19808,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49224,'NCBI Gene PubMed Count',NULL,19808,NULL,NULL,NULL,21,NULL,NULL,NULL),(49225,'NCBI Gene Summary',NULL,19809,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49226,'NCBI Gene PubMed Count',NULL,19809,NULL,NULL,NULL,3,NULL,NULL,NULL),(49227,'NCBI Gene Summary',NULL,19810,NULL,'The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]',NULL,NULL,NULL,NULL,NULL),(49228,'NCBI Gene PubMed Count',NULL,19810,NULL,NULL,NULL,62,NULL,NULL,NULL),(49229,'NCBI Gene Summary',NULL,19811,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49230,'NCBI Gene PubMed Count',NULL,19811,NULL,NULL,NULL,3,NULL,NULL,NULL),(49231,'NCBI Gene Summary',NULL,19812,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49232,'NCBI Gene PubMed Count',NULL,19812,NULL,NULL,NULL,3,NULL,NULL,NULL),(49233,'NCBI Gene Summary',NULL,19813,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49234,'NCBI Gene PubMed Count',NULL,19813,NULL,NULL,NULL,3,NULL,NULL,NULL),(49235,'NCBI Gene Summary',NULL,19814,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49236,'NCBI Gene PubMed Count',NULL,19814,NULL,NULL,NULL,6,NULL,NULL,NULL),(49237,'NCBI Gene Summary',NULL,19815,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49238,'NCBI Gene PubMed Count',NULL,19815,NULL,NULL,NULL,3,NULL,NULL,NULL),(49239,'NCBI Gene Summary',NULL,19816,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49240,'NCBI Gene PubMed Count',NULL,19816,NULL,NULL,NULL,4,NULL,NULL,NULL),(49241,'NCBI Gene Summary',NULL,19817,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49242,'NCBI Gene PubMed Count',NULL,19817,NULL,NULL,NULL,3,NULL,NULL,NULL),(49243,'NCBI Gene Summary',NULL,19818,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49244,'NCBI Gene PubMed Count',NULL,19818,NULL,NULL,NULL,4,NULL,NULL,NULL),(49245,'NCBI Gene Summary',NULL,19819,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49246,'NCBI Gene PubMed Count',NULL,19819,NULL,NULL,NULL,3,NULL,NULL,NULL),(49247,'NCBI Gene Summary',NULL,19820,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49248,'NCBI Gene PubMed Count',NULL,19820,NULL,NULL,NULL,2,NULL,NULL,NULL),(49249,'NCBI Gene Summary',NULL,19821,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49250,'NCBI Gene PubMed Count',NULL,19821,NULL,NULL,NULL,3,NULL,NULL,NULL),(49251,'NCBI Gene Summary',NULL,19822,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49252,'NCBI Gene PubMed Count',NULL,19822,NULL,NULL,NULL,3,NULL,NULL,NULL),(49253,'NCBI Gene Summary',NULL,19823,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49254,'NCBI Gene PubMed Count',NULL,19823,NULL,NULL,NULL,2,NULL,NULL,NULL),(49255,'NCBI Gene Summary',NULL,19824,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(49256,'NCBI Gene PubMed Count',NULL,19824,NULL,NULL,NULL,3,NULL,NULL,NULL),(49257,'NCBI Gene Summary',NULL,19825,NULL,'CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49258,'NCBI Gene PubMed Count',NULL,19825,NULL,NULL,NULL,112,NULL,NULL,NULL),(49259,'NCBI Gene Summary',NULL,19826,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49260,'NCBI Gene PubMed Count',NULL,19826,NULL,NULL,NULL,3,NULL,NULL,NULL),(49261,'NCBI Gene Summary',NULL,19827,NULL,'This gene encodes a conserved protein that plays a key role in the regulation of cell division. The encoded protein directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It also suppresses p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(49262,'NCBI Gene PubMed Count',NULL,19827,NULL,NULL,NULL,151,NULL,NULL,NULL),(49263,'NCBI Gene Summary',NULL,19828,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49264,'NCBI Gene PubMed Count',NULL,19828,NULL,NULL,NULL,2,NULL,NULL,NULL),(49265,'NCBI Gene Summary',NULL,19829,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49266,'NCBI Gene PubMed Count',NULL,19829,NULL,NULL,NULL,7,NULL,NULL,NULL),(49267,'NCBI Gene Summary',NULL,19830,NULL,'This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49268,'NCBI Gene PubMed Count',NULL,19830,NULL,NULL,NULL,11,NULL,NULL,NULL),(49269,'NCBI Gene Summary',NULL,19831,NULL,'This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(49270,'NCBI Gene PubMed Count',NULL,19831,NULL,NULL,NULL,42,NULL,NULL,NULL),(49271,'NCBI Gene PubMed Count',NULL,19832,NULL,NULL,NULL,3,NULL,NULL,NULL),(49272,'NCBI Gene Summary',NULL,19833,NULL,'This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(49273,'NCBI Gene PubMed Count',NULL,19833,NULL,NULL,NULL,18,NULL,NULL,NULL),(49274,'NCBI Gene Summary',NULL,19834,NULL,'This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(49275,'NCBI Gene PubMed Count',NULL,19834,NULL,NULL,NULL,181,NULL,NULL,NULL),(49276,'NCBI Gene PubMed Count',NULL,19835,NULL,NULL,NULL,9,NULL,NULL,NULL),(49277,'NCBI Gene Summary',NULL,19836,NULL,'The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 3, the third member of the antizyme family. Like antizymes 1 and 2, antizyme 3 inhibits ODC activity and polyamine uptake; however, it does not stimulate ODC degradation. Also, while antizymes 1 and 2 have broad tissue distribution, expression of antizyme 3 is restricted to haploid germ cells in testis, suggesting a distinct role for this antizyme in spermiogenesis. Antizyme 3 gene knockout studies showed that homozygous mutant male mice were infertile, and indicated the likely role of this antizyme in the formation of a rigid connection between the sperm head and tail during spermatogenesis. Alternatively spliced transcript variants encoding different isoforms, including one resulting from the use of non-AUG (CUG) translation initiation codon, have been found for this gene. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(49278,'NCBI Gene PubMed Count',NULL,19836,NULL,NULL,NULL,12,NULL,NULL,NULL),(49279,'NCBI Gene PubMed Count',NULL,19837,NULL,NULL,NULL,5,NULL,NULL,NULL),(49280,'NCBI Gene PubMed Count',NULL,19838,NULL,NULL,NULL,20,NULL,NULL,NULL),(49281,'NCBI Gene Summary',NULL,19839,NULL,'This gene encodes a preproprotein that is proteolytically processed to generate two protein products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiating factor functions as a cytokine that can stimulate colony formation of bone marrow megakaryocytes. Mesothelin is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(49282,'NCBI Gene PubMed Count',NULL,19839,NULL,NULL,NULL,139,NULL,NULL,NULL),(49283,'NCBI Gene Summary',NULL,19840,NULL,'The protein encoded by this gene belongs to the methionine-R-sulfoxide reductase B (MsrB) family. Members of this family function as repair enzymes that protect proteins from oxidative stress by catalyzing the reduction of methionine-R-sulfoxides to methionines. This protein is highly expressed in liver and kidney, and is localized to the nucleus and cytosol. It is the only member of the MsrB family that is a selenoprotein, containing a selenocysteine (Sec) residue at its active site. It also has the highest methionine-R-sulfoxide reductase activity compared to other members containing cysteine in place of Sec. Sec is encoded by the UGA codon, which normally signals translation termination. The 3\' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A pseudogene of this locus has been identified on chromosome 19. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(49284,'NCBI Gene PubMed Count',NULL,19840,NULL,NULL,NULL,21,NULL,NULL,NULL),(49285,'NCBI Gene Summary',NULL,19841,NULL,'This gene encodes a member of the GTPase protein family. The encoded protein interacts with breast cancer-associated gene 1 (BRCA1) and BRCA1-associated RING domain protein (BARD1), and is involved in centrosome regulation. Overexpression of this gene has been observed in multiple types of cancer and may be associated with poor survival. Pseudogenes of this gene have been defined on chromosomes 17 and 22. [provided by RefSeq, Jun 2016]',NULL,NULL,NULL,NULL,NULL),(49286,'NCBI Gene PubMed Count',NULL,19841,NULL,NULL,NULL,30,NULL,NULL,NULL),(49287,'NCBI Gene PubMed Count',NULL,19842,NULL,NULL,NULL,9,NULL,NULL,NULL),(49288,'NCBI Gene Summary',NULL,19843,NULL,'This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5\'-region of the runt-related transcription factor 1 gene fused to the 3\'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]',NULL,NULL,NULL,NULL,NULL),(49289,'NCBI Gene PubMed Count',NULL,19843,NULL,NULL,NULL,146,NULL,NULL,NULL),(49290,'NCBI Gene Summary',NULL,19844,NULL,'In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5\'-region of the RUNX1 (AML1) gene fused to the 3\'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49291,'NCBI Gene PubMed Count',NULL,19844,NULL,NULL,NULL,24,NULL,NULL,NULL),(49292,'NCBI Gene Summary',NULL,19845,NULL,'This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49293,'NCBI Gene PubMed Count',NULL,19845,NULL,NULL,NULL,66,NULL,NULL,NULL),(49294,'NCBI Gene PubMed Count',NULL,19846,NULL,NULL,NULL,7,NULL,NULL,NULL),(49295,'NCBI Gene PubMed Count',NULL,19847,NULL,NULL,NULL,14,NULL,NULL,NULL),(49296,'NCBI Gene Summary',NULL,19848,NULL,'This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49297,'NCBI Gene PubMed Count',NULL,19848,NULL,NULL,NULL,14,NULL,NULL,NULL),(49298,'NCBI Gene Summary',NULL,19849,NULL,'This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(49299,'NCBI Gene PubMed Count',NULL,19849,NULL,NULL,NULL,37,NULL,NULL,NULL),(49300,'NCBI Gene PubMed Count',NULL,19850,NULL,NULL,NULL,24,NULL,NULL,NULL),(49301,'NCBI Gene PubMed Count',NULL,19851,NULL,NULL,NULL,10,NULL,NULL,NULL),(49302,'NCBI Gene Summary',NULL,19852,NULL,'This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49303,'NCBI Gene PubMed Count',NULL,19852,NULL,NULL,NULL,30,NULL,NULL,NULL),(49304,'NCBI Gene PubMed Count',NULL,19853,NULL,NULL,NULL,15,NULL,NULL,NULL),(49305,'NCBI Gene PubMed Count',NULL,19854,NULL,NULL,NULL,84,NULL,NULL,NULL),(49306,'NCBI Gene Summary',NULL,19855,NULL,'The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(49307,'NCBI Gene PubMed Count',NULL,19855,NULL,NULL,NULL,71,NULL,NULL,NULL),(49308,'NCBI Gene PubMed Count',NULL,19856,NULL,NULL,NULL,16,NULL,NULL,NULL),(49309,'NCBI Gene Summary',NULL,19857,NULL,'MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49310,'NCBI Gene PubMed Count',NULL,19857,NULL,NULL,NULL,146,NULL,NULL,NULL),(49311,'NCBI Gene Summary',NULL,19858,NULL,'This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49312,'NCBI Gene PubMed Count',NULL,19858,NULL,NULL,NULL,83,NULL,NULL,NULL),(49313,'NCBI Gene Summary',NULL,19859,NULL,'This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(49314,'NCBI Gene PubMed Count',NULL,19859,NULL,NULL,NULL,8,NULL,NULL,NULL),(49315,'NCBI Gene PubMed Count',NULL,19860,NULL,NULL,NULL,16,NULL,NULL,NULL),(49316,'NCBI Gene Summary',NULL,19861,NULL,'This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(49317,'NCBI Gene PubMed Count',NULL,19861,NULL,NULL,NULL,37,NULL,NULL,NULL),(49318,'NCBI Gene PubMed Count',NULL,19862,NULL,NULL,NULL,14,NULL,NULL,NULL),(49319,'NCBI Gene Summary',NULL,19863,NULL,'This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer\'s disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(49320,'NCBI Gene PubMed Count',NULL,19863,NULL,NULL,NULL,265,NULL,NULL,NULL),(49321,'NCBI Gene Summary',NULL,19864,NULL,'Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49322,'NCBI Gene PubMed Count',NULL,19864,NULL,NULL,NULL,7,NULL,NULL,NULL),(49323,'NCBI Gene Summary',NULL,19865,NULL,'This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49324,'NCBI Gene PubMed Count',NULL,19865,NULL,NULL,NULL,39,NULL,NULL,NULL),(49325,'NCBI Gene Summary',NULL,19866,NULL,'This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(49326,'NCBI Gene PubMed Count',NULL,19866,NULL,NULL,NULL,12,NULL,NULL,NULL),(49327,'NCBI Gene Summary',NULL,19867,NULL,'This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49328,'NCBI Gene PubMed Count',NULL,19867,NULL,NULL,NULL,23,NULL,NULL,NULL),(49329,'NCBI Gene PubMed Count',NULL,19868,NULL,NULL,NULL,10,NULL,NULL,NULL),(49330,'NCBI Gene Summary',NULL,19869,NULL,'This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(49331,'NCBI Gene PubMed Count',NULL,19869,NULL,NULL,NULL,17,NULL,NULL,NULL),(49332,'NCBI Gene PubMed Count',NULL,19870,NULL,NULL,NULL,10,NULL,NULL,NULL),(49333,'NCBI Gene Summary',NULL,19871,NULL,'This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B\'/PR61, and B\'\'/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B\'\' family. The B\'\' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B\'\'. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(49334,'NCBI Gene PubMed Count',NULL,19871,NULL,NULL,NULL,26,NULL,NULL,NULL),(49335,'NCBI Gene Summary',NULL,19872,NULL,'Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B\'/PR61, and B\'\'/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B\'\' family. The B\'\' family has been further divided into subfamilies. The product of this gene belongs to the beta subfamily of regulatory subunit B\'\'. [provided by RefSeq, Apr 2010]',NULL,NULL,NULL,NULL,NULL),(49336,'NCBI Gene PubMed Count',NULL,19872,NULL,NULL,NULL,16,NULL,NULL,NULL),(49337,'NCBI Gene Summary',NULL,19873,NULL,'This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(49338,'NCBI Gene PubMed Count',NULL,19873,NULL,NULL,NULL,14,NULL,NULL,NULL),(49339,'NCBI Gene PubMed Count',NULL,19874,NULL,NULL,NULL,19,NULL,NULL,NULL),(49340,'NCBI Gene Summary',NULL,19875,NULL,'This gene product belongs to the G-protein coupled receptor 1 family. Even though this protein shares similarity with the melatonin receptors, it does not bind melatonin, however, it inhibits melatonin receptor 1A function through heterodimerization. Polymorphic variants of this gene have been associated with bipolar affective disorder in women. [provided by RefSeq, Jan 2010]',NULL,NULL,NULL,NULL,NULL),(49341,'NCBI Gene PubMed Count',NULL,19875,NULL,NULL,NULL,27,NULL,NULL,NULL),(49342,'NCBI Gene PubMed Count',NULL,19876,NULL,NULL,NULL,36,NULL,NULL,NULL),(49343,'NCBI Gene Summary',NULL,19877,NULL,'In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(49344,'NCBI Gene PubMed Count',NULL,19877,NULL,NULL,NULL,109,NULL,NULL,NULL),(49345,'NCBI Gene Summary',NULL,19878,NULL,'This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(49346,'NCBI Gene PubMed Count',NULL,19878,NULL,NULL,NULL,14,NULL,NULL,NULL),(49347,'NCBI Gene Summary',NULL,19879,NULL,'This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(49348,'NCBI Gene PubMed Count',NULL,19879,NULL,NULL,NULL,61,NULL,NULL,NULL),(49349,'NCBI Gene Summary',NULL,19880,NULL,'This gene represents a transcribed retrogene of the Nanog homeobox gene. The putative encoded protein may participate in reprogramming of cancer cells. In vitro studies using a recombinant protein have shown that the protein localizes to the nucleus and can promote cell proliferation, similar to the Nanog protein. [provided by RefSeq, Sep 2017]',NULL,NULL,NULL,NULL,NULL),(49350,'NCBI Gene PubMed Count',NULL,19880,NULL,NULL,NULL,19,NULL,NULL,NULL),(49351,'NCBI Gene Summary',NULL,19881,NULL,'This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(49352,'NCBI Gene PubMed Count',NULL,19881,NULL,NULL,NULL,20,NULL,NULL,NULL),(49353,'NCBI Gene Summary',NULL,19882,NULL,'The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and chromatin organization. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(49354,'NCBI Gene PubMed Count',NULL,19882,NULL,NULL,NULL,34,NULL,NULL,NULL),(49355,'NCBI Gene Summary',NULL,19883,NULL,'This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(49356,'NCBI Gene PubMed Count',NULL,19883,NULL,NULL,NULL,26,NULL,NULL,NULL),(49357,'NCBI Gene PubMed Count',NULL,19884,NULL,NULL,NULL,7,NULL,NULL,NULL),(49358,'NCBI Gene Summary',NULL,19885,NULL,'The protein encoded by this gene is highly similar to the N-acetyltransferase 8 (NAT8) gene product, which is a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and may represent a pseudogene of NAT8. This gene contains two polymorphic nonsense mutations that disrupt the active site of the protein. The full-length product of this gene contains a complete acetyltransferase domain and is identical in length to NAT8. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49359,'NCBI Gene PubMed Count',NULL,19885,NULL,NULL,NULL,9,NULL,NULL,NULL),(49360,'NCBI Gene Summary',NULL,19886,NULL,'The protein encoded by this gene functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. The encoded protein acts as an intermediary factor for the ligand-dependent activity of these nuclear receptors, which regulate their target genes upon binding of cognate response elements. This gene has been found to be involved in translocations that result in fusions with other genes in various cancers, including the lysine acetyltransferase 6A (KAT6A) gene in acute myeloid leukemia, the ETS variant 6 (ETV6) gene in acute lymphoblastic leukemia, and the hes related family bHLH transcription factor with YRPW motif 1 (HEY1) gene in mesenchymal chondrosarcoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(49361,'NCBI Gene PubMed Count',NULL,19886,NULL,NULL,NULL,160,NULL,NULL,NULL),(49362,'NCBI Gene PubMed Count',NULL,19887,NULL,NULL,NULL,17,NULL,NULL,NULL),(49363,'NCBI Gene Summary',NULL,19888,NULL,'This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(49364,'NCBI Gene PubMed Count',NULL,19888,NULL,NULL,NULL,18,NULL,NULL,NULL),(49365,'NCBI Gene Summary',NULL,19889,NULL,'This gene is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(49366,'NCBI Gene PubMed Count',NULL,19889,NULL,NULL,NULL,13,NULL,NULL,NULL),(49367,'NCBI Gene Summary',NULL,19890,NULL,'This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49368,'NCBI Gene PubMed Count',NULL,19890,NULL,NULL,NULL,74,NULL,NULL,NULL),(49369,'NCBI Gene Summary',NULL,19891,NULL,'This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(49370,'NCBI Gene PubMed Count',NULL,19891,NULL,NULL,NULL,11,NULL,NULL,NULL),(49371,'NCBI Gene PubMed Count',NULL,19892,NULL,NULL,NULL,10,NULL,NULL,NULL),(49372,'NCBI Gene Summary',NULL,19893,NULL,'The protein encoded by this gene binds to the N-terminus of the oncogenic protein C-MYC, enhancing the ability of C-MYC to activate E box-dependent transcription. The encoded protein is normally found in the cytoplasm, but it translocates to the nucleus during S phase of the cell cycle and associates with C-MYC. This protein may be involved in spermatogenesis. This gene can be silenced by microRNA-22. Two transcript variants, one protein-coding and the other probably not protein-coding, have been found for this gene. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(49373,'NCBI Gene PubMed Count',NULL,19893,NULL,NULL,NULL,19,NULL,NULL,NULL),(49374,'NCBI Gene Summary',NULL,19894,NULL,'This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(49375,'NCBI Gene PubMed Count',NULL,19894,NULL,NULL,NULL,296,NULL,NULL,NULL),(49376,'NCBI Gene Summary',NULL,19895,NULL,'This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49377,'NCBI Gene PubMed Count',NULL,19895,NULL,NULL,NULL,120,NULL,NULL,NULL),(49378,'NCBI Gene Summary',NULL,19896,NULL,'This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49379,'NCBI Gene PubMed Count',NULL,19896,NULL,NULL,NULL,5,NULL,NULL,NULL),(49380,'NCBI Gene PubMed Count',NULL,19897,NULL,NULL,NULL,16,NULL,NULL,NULL),(49381,'NCBI Gene Summary',NULL,19898,NULL,'Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(49382,'NCBI Gene PubMed Count',NULL,19898,NULL,NULL,NULL,29,NULL,NULL,NULL),(49383,'NCBI Gene PubMed Count',NULL,19899,NULL,NULL,NULL,8,NULL,NULL,NULL),(49384,'NCBI Gene Summary',NULL,19900,NULL,'This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(49385,'NCBI Gene PubMed Count',NULL,19900,NULL,NULL,NULL,19,NULL,NULL,NULL),(49386,'NCBI Gene PubMed Count',NULL,19901,NULL,NULL,NULL,7,NULL,NULL,NULL),(49387,'NCBI Gene PubMed Count',NULL,19902,NULL,NULL,NULL,21,NULL,NULL,NULL),(49388,'NCBI Gene PubMed Count',NULL,19903,NULL,NULL,NULL,2,NULL,NULL,NULL),(49389,'NCBI Gene Summary',NULL,19904,NULL,'This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(49390,'NCBI Gene PubMed Count',NULL,19904,NULL,NULL,NULL,24,NULL,NULL,NULL),(49391,'NCBI Gene PubMed Count',NULL,19905,NULL,NULL,NULL,11,NULL,NULL,NULL),(49392,'NCBI Gene PubMed Count',NULL,19906,NULL,NULL,NULL,14,NULL,NULL,NULL),(49393,'NCBI Gene Summary',NULL,19907,NULL,'This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(49394,'NCBI Gene PubMed Count',NULL,19907,NULL,NULL,NULL,9,NULL,NULL,NULL),(49395,'NCBI Gene PubMed Count',NULL,19908,NULL,NULL,NULL,8,NULL,NULL,NULL),(49396,'NCBI Gene Summary',NULL,19909,NULL,'This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(49397,'NCBI Gene PubMed Count',NULL,19909,NULL,NULL,NULL,69,NULL,NULL,NULL),(49398,'NCBI Gene Summary',NULL,19910,NULL,'Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49399,'NCBI Gene PubMed Count',NULL,19910,NULL,NULL,NULL,248,NULL,NULL,NULL),(49400,'NCBI Gene PubMed Count',NULL,19911,NULL,NULL,NULL,25,NULL,NULL,NULL),(49401,'NCBI Gene Summary',NULL,19912,NULL,'This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(49402,'NCBI Gene PubMed Count',NULL,19912,NULL,NULL,NULL,12,NULL,NULL,NULL),(49403,'NCBI Gene Summary',NULL,19913,NULL,'Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]',NULL,NULL,NULL,NULL,NULL),(49404,'NCBI Gene PubMed Count',NULL,19913,NULL,NULL,NULL,50,NULL,NULL,NULL),(49405,'NCBI Gene Summary',NULL,19914,NULL,'The protein encoded by this gene is specifically expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(49406,'NCBI Gene PubMed Count',NULL,19914,NULL,NULL,NULL,8,NULL,NULL,NULL),(49407,'NCBI Gene Summary',NULL,19915,NULL,'N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(49408,'NCBI Gene PubMed Count',NULL,19915,NULL,NULL,NULL,84,NULL,NULL,NULL),(49409,'NCBI Gene Summary',NULL,19916,NULL,'This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]',NULL,NULL,NULL,NULL,NULL),(49410,'NCBI Gene PubMed Count',NULL,19916,NULL,NULL,NULL,38,NULL,NULL,NULL),(49411,'NCBI Gene Summary',NULL,19917,NULL,'This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49412,'NCBI Gene PubMed Count',NULL,19917,NULL,NULL,NULL,42,NULL,NULL,NULL),(49413,'NCBI Gene Summary',NULL,19918,NULL,'This gene encodes an enzyme that localizes to the Golgi apparatus, where it transfers an acetyl group to the N-terminus of free proteins. This enzyme acts on histones, and its activity is important for chromatin assembly and chromosome integrity. Alternative splicing and the use of alternative promoters results in multiple transcript variants. The upstream promoter is located in a differentially methylated region (DMR) and undergoes imprinting; transcript variants originating from this position are expressed from the maternal allele. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(49414,'NCBI Gene PubMed Count',NULL,19918,NULL,NULL,NULL,17,NULL,NULL,NULL),(49415,'NCBI Gene PubMed Count',NULL,19919,NULL,NULL,NULL,15,NULL,NULL,NULL),(49416,'NCBI Gene Summary',NULL,19920,NULL,'ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49417,'NCBI Gene PubMed Count',NULL,19920,NULL,NULL,NULL,14,NULL,NULL,NULL),(49418,'NCBI Gene PubMed Count',NULL,19921,NULL,NULL,NULL,18,NULL,NULL,NULL),(49419,'NCBI Gene PubMed Count',NULL,19922,NULL,NULL,NULL,3,NULL,NULL,NULL),(49420,'NCBI Gene Summary',NULL,19923,NULL,'This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(49421,'NCBI Gene PubMed Count',NULL,19923,NULL,NULL,NULL,15,NULL,NULL,NULL),(49422,'NCBI Gene Summary',NULL,19924,NULL,'This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(49423,'NCBI Gene PubMed Count',NULL,19924,NULL,NULL,NULL,1,NULL,NULL,NULL),(49424,'NCBI Gene Summary',NULL,19925,NULL,'Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]',NULL,NULL,NULL,NULL,NULL),(49425,'NCBI Gene PubMed Count',NULL,19925,NULL,NULL,NULL,24,NULL,NULL,NULL),(49426,'NCBI Gene PubMed Count',NULL,19926,NULL,NULL,NULL,22,NULL,NULL,NULL),(49427,'NCBI Gene Summary',NULL,19927,NULL,'This gene is a member of the the NOD-like receptor protein (NLRP) gene family and encodes a protein with an N-terminal pyrin death (PYD) domain and nucleoside triphosphate hydrolase (NACHT) domain and a C-terminal leucine-rich repeats (LRR) region. This gene has been shown to regulate caspases in the proinflammatory signal transduction pathway and, based on studies of other members of the NLRP gene family with similar domain structure, is predicted to form part of the multiprotein inflammasome complex. Alternative splicing produces multiple transcript variants encoding distince isoforms. [provided by RefSeq, May 2017]',NULL,NULL,NULL,NULL,NULL),(49428,'NCBI Gene PubMed Count',NULL,19927,NULL,NULL,NULL,16,NULL,NULL,NULL),(49429,'NCBI Gene Summary',NULL,19928,NULL,'The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49430,'NCBI Gene PubMed Count',NULL,19928,NULL,NULL,NULL,10,NULL,NULL,NULL),(49431,'NCBI Gene PubMed Count',NULL,19929,NULL,NULL,NULL,5,NULL,NULL,NULL),(49432,'NCBI Gene Summary',NULL,19930,NULL,'This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(49433,'NCBI Gene PubMed Count',NULL,19930,NULL,NULL,NULL,10,NULL,NULL,NULL),(49434,'NCBI Gene Summary',NULL,19931,NULL,'This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49435,'NCBI Gene PubMed Count',NULL,19931,NULL,NULL,NULL,23,NULL,NULL,NULL),(49436,'NCBI Gene Summary',NULL,19932,NULL,'The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(49437,'NCBI Gene PubMed Count',NULL,19932,NULL,NULL,NULL,14,NULL,NULL,NULL),(49438,'NCBI Gene PubMed Count',NULL,19933,NULL,NULL,NULL,8,NULL,NULL,NULL),(49439,'NCBI Gene Summary',NULL,19934,NULL,'This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49440,'NCBI Gene PubMed Count',NULL,19934,NULL,NULL,NULL,160,NULL,NULL,NULL),(49441,'NCBI Gene Summary',NULL,19935,NULL,'This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(49442,'NCBI Gene PubMed Count',NULL,19935,NULL,NULL,NULL,12,NULL,NULL,NULL),(49443,'NCBI Gene Summary',NULL,19936,NULL,'This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(49444,'NCBI Gene PubMed Count',NULL,19936,NULL,NULL,NULL,74,NULL,NULL,NULL),(49445,'NCBI Gene Summary',NULL,19937,NULL,'The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(49446,'NCBI Gene PubMed Count',NULL,19937,NULL,NULL,NULL,49,NULL,NULL,NULL),(49447,'NCBI Gene Summary',NULL,19938,NULL,'This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(49448,'NCBI Gene PubMed Count',NULL,19938,NULL,NULL,NULL,159,NULL,NULL,NULL),(49449,'NCBI Gene PubMed Count',NULL,19939,NULL,NULL,NULL,5,NULL,NULL,NULL),(49450,'NCBI Gene PubMed Count',NULL,19940,NULL,NULL,NULL,27,NULL,NULL,NULL),(49451,'NCBI Gene Summary',NULL,19941,NULL,'The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(49452,'NCBI Gene PubMed Count',NULL,19941,NULL,NULL,NULL,36,NULL,NULL,NULL),(49453,'NCBI Gene PubMed Count',NULL,19942,NULL,NULL,NULL,2,NULL,NULL,NULL),(49454,'NCBI Gene Summary',NULL,19943,NULL,'This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(49455,'NCBI Gene PubMed Count',NULL,19943,NULL,NULL,NULL,39,NULL,NULL,NULL),(49456,'NCBI Gene PubMed Count',NULL,19944,NULL,NULL,NULL,24,NULL,NULL,NULL),(49457,'NCBI Gene Summary',NULL,19945,NULL,'The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(49458,'NCBI Gene PubMed Count',NULL,19945,NULL,NULL,NULL,49,NULL,NULL,NULL),(49459,'NCBI Gene PubMed Count',NULL,19946,NULL,NULL,NULL,6,NULL,NULL,NULL),(49460,'NCBI Gene Summary',NULL,19947,NULL,'This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49461,'NCBI Gene PubMed Count',NULL,19947,NULL,NULL,NULL,58,NULL,NULL,NULL),(49462,'NCBI Gene Summary',NULL,19948,NULL,'This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(49463,'NCBI Gene PubMed Count',NULL,19948,NULL,NULL,NULL,19,NULL,NULL,NULL),(49464,'NCBI Gene Summary',NULL,19949,NULL,'This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(49465,'NCBI Gene PubMed Count',NULL,19949,NULL,NULL,NULL,18,NULL,NULL,NULL),(49466,'NCBI Gene Summary',NULL,19950,NULL,'This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(49467,'NCBI Gene PubMed Count',NULL,19950,NULL,NULL,NULL,21,NULL,NULL,NULL),(49468,'NCBI Gene Summary',NULL,19951,NULL,'This gene encodes a transcription factor that belongs to NKX family of homeodomain-containing proteins which are critical regulators of organ development. In mice, the orthologous gene is expressed predominantly in the brainstem, in the vicinity of serotonergic neurons, and is required for the coordinated crosstalk of factors involved in the maintenance of energy homeostasis. Mice with a knockout of the orthologous gene lack subcutaneous fat and intra-abdominal epididymal and mesenteric white adipose tissue two weeks after birth, and die within three weeks after birth. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(49469,'NCBI Gene PubMed Count',NULL,19951,NULL,NULL,NULL,6,NULL,NULL,NULL),(49470,'NCBI Gene Summary',NULL,19952,NULL,'This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(49471,'NCBI Gene PubMed Count',NULL,19952,NULL,NULL,NULL,42,NULL,NULL,NULL),(49472,'NCBI Gene Summary',NULL,19953,NULL,'This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(49473,'NCBI Gene PubMed Count',NULL,19953,NULL,NULL,NULL,54,NULL,NULL,NULL),(49474,'NCBI Gene Summary',NULL,19954,NULL,'This gene encodes a member of the neuromedin family of neuropeptides. The encoded protein is a precursor that is proteolytically processed to generate a biologically active neuropeptide that plays a role in pain, stress, immune-mediated inflammatory diseases and feeding regulation. Increased expression of this gene was observed in renal, pancreatic and lung cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. Some of these isoforms may undergo similar processing to generate the mature peptide. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(49475,'NCBI Gene PubMed Count',NULL,19954,NULL,NULL,NULL,40,NULL,NULL,NULL),(49476,'NCBI Gene Summary',NULL,19955,NULL,'GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. \'Active\' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49477,'NCBI Gene PubMed Count',NULL,19955,NULL,NULL,NULL,17,NULL,NULL,NULL),(49478,'NCBI Gene PubMed Count',NULL,19956,NULL,NULL,NULL,12,NULL,NULL,NULL),(49479,'NCBI Gene Summary',NULL,19957,NULL,'The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5\' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(49480,'NCBI Gene PubMed Count',NULL,19957,NULL,NULL,NULL,339,NULL,NULL,NULL),(49481,'NCBI Gene Summary',NULL,19958,NULL,'This gene is predominantly expressed in the testis and lymphocyte-rich areas of spleen and lymph nodes. It encodes a calcium-dependen NADPH oxidase that generates superoxide, and functions as a calcium-dependent proton channel that may regulate redox-dependent processes in lymphocytes and spermatozoa. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(49482,'NCBI Gene PubMed Count',NULL,19958,NULL,NULL,NULL,71,NULL,NULL,NULL),(49483,'NCBI Gene PubMed Count',NULL,19959,NULL,NULL,NULL,9,NULL,NULL,NULL),(49484,'NCBI Gene Summary',NULL,19960,NULL,'The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(49485,'NCBI Gene PubMed Count',NULL,19960,NULL,NULL,NULL,93,NULL,NULL,NULL),(49486,'NCBI Gene Summary',NULL,19961,NULL,'The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(49487,'NCBI Gene PubMed Count',NULL,19961,NULL,NULL,NULL,88,NULL,NULL,NULL),(49488,'NCBI Gene Summary',NULL,19962,NULL,'This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(49489,'NCBI Gene PubMed Count',NULL,19962,NULL,NULL,NULL,227,NULL,NULL,NULL),(49490,'NCBI Gene Summary',NULL,19963,NULL,'The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(49491,'NCBI Gene PubMed Count',NULL,19963,NULL,NULL,NULL,48,NULL,NULL,NULL),(49492,'NCBI Gene Summary',NULL,19964,NULL,'The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor. The encoded protein is similar in sequence to another G protein-coupled receptor (GPR7), and it is structurally similar to opioid and somatostatin receptors. This protein binds neuropeptides B and W. This gene is intronless and is expressed primarily in the frontal cortex of the brain. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49493,'NCBI Gene PubMed Count',NULL,19964,NULL,NULL,NULL,14,NULL,NULL,NULL),(49494,'NCBI Gene Summary',NULL,19965,NULL,'The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(49495,'NCBI Gene PubMed Count',NULL,19965,NULL,NULL,NULL,22,NULL,NULL,NULL),(49496,'NCBI Gene Summary',NULL,19966,NULL,'This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(49497,'NCBI Gene PubMed Count',NULL,19966,NULL,NULL,NULL,155,NULL,NULL,NULL),(49498,'NCBI Gene Summary',NULL,19967,NULL,'This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(49499,'NCBI Gene PubMed Count',NULL,19967,NULL,NULL,NULL,30,NULL,NULL,NULL),(49500,'NCBI Gene PubMed Count',NULL,19968,NULL,NULL,NULL,11,NULL,NULL,NULL),(49501,'NCBI Gene PubMed Count',NULL,19969,NULL,NULL,NULL,76,NULL,NULL,NULL),(49502,'NCBI Gene Summary',NULL,19970,NULL,'NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(49503,'NCBI Gene PubMed Count',NULL,19970,NULL,NULL,NULL,14,NULL,NULL,NULL),(49504,'NCBI Gene Summary',NULL,19971,NULL,'The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(49505,'NCBI Gene PubMed Count',NULL,19971,NULL,NULL,NULL,46,NULL,NULL,NULL),(49506,'NCBI Gene Summary',NULL,19972,NULL,'This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(49507,'NCBI Gene PubMed Count',NULL,19972,NULL,NULL,NULL,39,NULL,NULL,NULL),(49508,'NCBI Gene PubMed Count',NULL,19973,NULL,NULL,NULL,3,NULL,NULL,NULL),(49509,'NCBI Gene Summary',NULL,19974,NULL,'This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(49510,'NCBI Gene PubMed Count',NULL,19974,NULL,NULL,NULL,38,NULL,NULL,NULL),(49511,'NCBI Gene PubMed Count',NULL,19975,NULL,NULL,NULL,10,NULL,NULL,NULL),(49512,'NCBI Gene Summary',NULL,19976,NULL,'This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(49513,'NCBI Gene PubMed Count',NULL,19976,NULL,NULL,NULL,37,NULL,NULL,NULL),(49514,'NCBI Gene Summary',NULL,19977,NULL,'This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49515,'NCBI Gene PubMed Count',NULL,19977,NULL,NULL,NULL,48,NULL,NULL,NULL),(49516,'NCBI Gene Summary',NULL,19978,NULL,'This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49517,'NCBI Gene PubMed Count',NULL,19978,NULL,NULL,NULL,24,NULL,NULL,NULL),(49518,'NCBI Gene PubMed Count',NULL,19979,NULL,NULL,NULL,5,NULL,NULL,NULL),(49519,'NCBI Gene PubMed Count',NULL,19980,NULL,NULL,NULL,18,NULL,NULL,NULL),(49520,'NCBI Gene Summary',NULL,19981,NULL,'This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(49521,'NCBI Gene PubMed Count',NULL,19981,NULL,NULL,NULL,19,NULL,NULL,NULL),(49522,'NCBI Gene Summary',NULL,19982,NULL,'The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(49523,'NCBI Gene PubMed Count',NULL,19982,NULL,NULL,NULL,167,NULL,NULL,NULL),(49524,'NCBI Gene Summary',NULL,19983,NULL,'Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans.  Accurate initiation of transcription from eukaryotic protein-encoding genes requires the assembly of a large multiprotein complex consisting of RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49525,'NCBI Gene PubMed Count',NULL,19983,NULL,NULL,NULL,27,NULL,NULL,NULL),(49526,'NCBI Gene PubMed Count',NULL,19984,NULL,NULL,NULL,7,NULL,NULL,NULL),(49527,'NCBI Gene PubMed Count',NULL,19985,NULL,NULL,NULL,20,NULL,NULL,NULL),(49528,'NCBI Gene Summary',NULL,19986,NULL,'NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of  Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49529,'NCBI Gene PubMed Count',NULL,19986,NULL,NULL,NULL,33,NULL,NULL,NULL),(49530,'NCBI Gene Summary',NULL,19987,NULL,'Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). The protein encoded by this gene belongs to the NALP protein family despite lacking the LRR region. This protein likely plays a regulatory role in the innate immune system. The protein belongs to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. Other experiments indicate that this gene acts as a multifunctional negative regulator of inflammation and apoptosis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49531,'NCBI Gene PubMed Count',NULL,19987,NULL,NULL,NULL,17,NULL,NULL,NULL),(49532,'NCBI Gene Summary',NULL,19988,NULL,'Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49533,'NCBI Gene PubMed Count',NULL,19988,NULL,NULL,NULL,13,NULL,NULL,NULL),(49534,'NCBI Gene PubMed Count',NULL,19989,NULL,NULL,NULL,1,NULL,NULL,NULL),(49535,'NCBI Gene Summary',NULL,19990,NULL,'This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(49536,'NCBI Gene PubMed Count',NULL,19990,NULL,NULL,NULL,10,NULL,NULL,NULL),(49537,'NCBI Gene PubMed Count',NULL,19991,NULL,NULL,NULL,3,NULL,NULL,NULL),(49538,'NCBI Gene Summary',NULL,19992,NULL,'This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(49539,'NCBI Gene PubMed Count',NULL,19992,NULL,NULL,NULL,10,NULL,NULL,NULL),(49540,'NCBI Gene Summary',NULL,19993,NULL,'The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49541,'NCBI Gene PubMed Count',NULL,19993,NULL,NULL,NULL,188,NULL,NULL,NULL),(49542,'NCBI Gene Summary',NULL,19994,NULL,'The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(49543,'NCBI Gene PubMed Count',NULL,19994,NULL,NULL,NULL,52,NULL,NULL,NULL),(49544,'NCBI Gene Summary',NULL,19995,NULL,'The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(49545,'NCBI Gene PubMed Count',NULL,19995,NULL,NULL,NULL,263,NULL,NULL,NULL),(49546,'NCBI Gene Summary',NULL,19996,NULL,'This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(49547,'NCBI Gene PubMed Count',NULL,19996,NULL,NULL,NULL,29,NULL,NULL,NULL),(49548,'NCBI Gene PubMed Count',NULL,19997,NULL,NULL,NULL,9,NULL,NULL,NULL),(49549,'NCBI Gene PubMed Count',NULL,19998,NULL,NULL,NULL,16,NULL,NULL,NULL),(49550,'NCBI Gene Summary',NULL,19999,NULL,'This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49551,'NCBI Gene PubMed Count',NULL,19999,NULL,NULL,NULL,101,NULL,NULL,NULL),(49552,'NCBI Gene PubMed Count',NULL,20000,NULL,NULL,NULL,12,NULL,NULL,NULL),(49553,'NCBI Gene Summary',NULL,20001,NULL,'This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(49554,'NCBI Gene PubMed Count',NULL,20001,NULL,NULL,NULL,199,NULL,NULL,NULL),(49555,'NCBI Gene Summary',NULL,20002,NULL,'This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(49556,'NCBI Gene PubMed Count',NULL,20002,NULL,NULL,NULL,14,NULL,NULL,NULL),(49557,'NCBI Gene Summary',NULL,20003,NULL,'This locus represents naturally occurring read-through transcription between the neighboring NDUFC2 (NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa) and KCTD14 (potassium channel tetramerisation domain containing 14) genes on chromosome 11. The read-through transcripts share sequence identity with the upstream gene product and one variant has a frameshifted C-terminal region derived from the downstream gene exons. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(49558,'NCBI Gene PubMed Count',NULL,20003,NULL,NULL,NULL,2,NULL,NULL,NULL),(49559,'NCBI Gene Summary',NULL,20004,NULL,'The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(49560,'NCBI Gene PubMed Count',NULL,20004,NULL,NULL,NULL,41,NULL,NULL,NULL),(49561,'NCBI Gene Summary',NULL,20005,NULL,'This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(49562,'NCBI Gene PubMed Count',NULL,20005,NULL,NULL,NULL,18,NULL,NULL,NULL),(49563,'NCBI Gene Summary',NULL,20006,NULL,'This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(49564,'NCBI Gene PubMed Count',NULL,20006,NULL,NULL,NULL,48,NULL,NULL,NULL),(49565,'NCBI Gene Summary',NULL,20007,NULL,'Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(49566,'NCBI Gene PubMed Count',NULL,20007,NULL,NULL,NULL,40,NULL,NULL,NULL),(49567,'NCBI Gene Summary',NULL,20008,NULL,'NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49568,'NCBI Gene PubMed Count',NULL,20008,NULL,NULL,NULL,17,NULL,NULL,NULL),(49569,'NCBI Gene Summary',NULL,20009,NULL,'This gene encodes a neurotrophic factor that may play a role in neuron differentiation and development. A pseudogene of this gene is found on chromosome 12. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(49570,'NCBI Gene PubMed Count',NULL,20009,NULL,NULL,NULL,8,NULL,NULL,NULL),(49571,'NCBI Gene Summary',NULL,20010,NULL,'This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1). [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(49572,'NCBI Gene PubMed Count',NULL,20010,NULL,NULL,NULL,8,NULL,NULL,NULL),(49573,'NCBI Gene Summary',NULL,20011,NULL,'Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(49574,'NCBI Gene PubMed Count',NULL,20011,NULL,NULL,NULL,15,NULL,NULL,NULL),(49575,'NCBI Gene PubMed Count',NULL,20012,NULL,NULL,NULL,6,NULL,NULL,NULL),(49576,'NCBI Gene PubMed Count',NULL,20013,NULL,NULL,NULL,17,NULL,NULL,NULL),(49577,'NCBI Gene Summary',NULL,20014,NULL,'The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5\'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(49578,'NCBI Gene PubMed Count',NULL,20014,NULL,NULL,NULL,42,NULL,NULL,NULL),(49579,'NCBI Gene Summary',NULL,20015,NULL,'This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(49580,'NCBI Gene PubMed Count',NULL,20015,NULL,NULL,NULL,240,NULL,NULL,NULL),(49581,'NCBI Gene Summary',NULL,20016,NULL,'Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49582,'NCBI Gene PubMed Count',NULL,20016,NULL,NULL,NULL,67,NULL,NULL,NULL),(49583,'NCBI Gene PubMed Count',NULL,20017,NULL,NULL,NULL,21,NULL,NULL,NULL),(49584,'NCBI Gene Summary',NULL,20018,NULL,'This gene encodes a member of the cap \'n\' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]',NULL,NULL,NULL,NULL,NULL),(49585,'NCBI Gene PubMed Count',NULL,20018,NULL,NULL,NULL,25,NULL,NULL,NULL),(49586,'NCBI Gene PubMed Count',NULL,20019,NULL,NULL,NULL,19,NULL,NULL,NULL),(49587,'NCBI Gene Summary',NULL,20020,NULL,'This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(49588,'NCBI Gene PubMed Count',NULL,20020,NULL,NULL,NULL,14,NULL,NULL,NULL),(49589,'NCBI Gene Summary',NULL,20021,NULL,'Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]',NULL,NULL,NULL,NULL,NULL),(49590,'NCBI Gene PubMed Count',NULL,20021,NULL,NULL,NULL,71,NULL,NULL,NULL),(49591,'NCBI Gene Summary',NULL,20022,NULL,'This gene encodes a homeobox-containing transcription factor. This transcription factor functions as a negative regulator of epithelial cell growth in prostate tissue. Aberrant expression of this gene is associated with prostate tumor progression. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(49592,'NCBI Gene PubMed Count',NULL,20022,NULL,NULL,NULL,98,NULL,NULL,NULL),(49593,'NCBI Gene Summary',NULL,20023,NULL,'This gene encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division. The G2/M transition in the cell cycle requires the interaction of the proteins cyclin B1 and cyclin-dependent kinase 1. The activated ubiquitin ligase complex targets the protein cyclin B1 for degradation, preventing this transition to mitosis. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(49594,'NCBI Gene PubMed Count',NULL,20023,NULL,NULL,NULL,26,NULL,NULL,NULL),(49595,'NCBI Gene Summary',NULL,20024,NULL,'This gene encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(49596,'NCBI Gene PubMed Count',NULL,20024,NULL,NULL,NULL,21,NULL,NULL,NULL),(49597,'NCBI Gene PubMed Count',NULL,20025,NULL,NULL,NULL,8,NULL,NULL,NULL),(49598,'NCBI Gene Summary',NULL,20026,NULL,'This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49599,'NCBI Gene PubMed Count',NULL,20026,NULL,NULL,NULL,11,NULL,NULL,NULL),(49600,'NCBI Gene Summary',NULL,20027,NULL,'This gene encodes a member of a family of proteins that function as negative regulators of Wnt receptor signaling through interaction with Dishevelled family members. The encoded protein participates in the delivery of transforming growth factor alpha-containing vesicles to the cell membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(49601,'NCBI Gene PubMed Count',NULL,20027,NULL,NULL,NULL,29,NULL,NULL,NULL),(49602,'NCBI Gene Summary',NULL,20028,NULL,'This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(49603,'NCBI Gene PubMed Count',NULL,20028,NULL,NULL,NULL,14,NULL,NULL,NULL),(49604,'NCBI Gene Summary',NULL,20029,NULL,'This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5\' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5\' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(49605,'NCBI Gene PubMed Count',NULL,20029,NULL,NULL,NULL,568,NULL,NULL,NULL),(49606,'NCBI Gene Summary',NULL,20030,NULL,'The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015]',NULL,NULL,NULL,NULL,NULL),(49607,'NCBI Gene PubMed Count',NULL,20030,NULL,NULL,NULL,19,NULL,NULL,NULL),(49608,'NCBI Gene Summary',NULL,20031,NULL,'The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]',NULL,NULL,NULL,NULL,NULL),(49609,'NCBI Gene PubMed Count',NULL,20031,NULL,NULL,NULL,20,NULL,NULL,NULL),(49610,'NCBI Gene Summary',NULL,20032,NULL,'This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(49611,'NCBI Gene PubMed Count',NULL,20032,NULL,NULL,NULL,62,NULL,NULL,NULL),(49612,'NCBI Gene Summary',NULL,20033,NULL,'This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(49613,'NCBI Gene PubMed Count',NULL,20033,NULL,NULL,NULL,25,NULL,NULL,NULL),(49614,'NCBI Gene Summary',NULL,20034,NULL,'This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(49615,'NCBI Gene PubMed Count',NULL,20034,NULL,NULL,NULL,32,NULL,NULL,NULL),(49616,'NCBI Gene PubMed Count',NULL,20035,NULL,NULL,NULL,13,NULL,NULL,NULL),(49617,'NCBI Gene PubMed Count',NULL,20036,NULL,NULL,NULL,9,NULL,NULL,NULL),(49618,'NCBI Gene Summary',NULL,20037,NULL,'This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(49619,'NCBI Gene PubMed Count',NULL,20037,NULL,NULL,NULL,1184,NULL,NULL,NULL),(49620,'NCBI Gene Summary',NULL,20038,NULL,'This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.[provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(49621,'NCBI Gene PubMed Count',NULL,20038,NULL,NULL,NULL,22,NULL,NULL,NULL),(49622,'NCBI Gene Summary',NULL,20039,NULL,'This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49623,'NCBI Gene PubMed Count',NULL,20039,NULL,NULL,NULL,65,NULL,NULL,NULL),(49624,'NCBI Gene Summary',NULL,20040,NULL,'This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]',NULL,NULL,NULL,NULL,NULL),(49625,'NCBI Gene PubMed Count',NULL,20040,NULL,NULL,NULL,44,NULL,NULL,NULL),(49626,'NCBI Gene PubMed Count',NULL,20041,NULL,NULL,NULL,34,NULL,NULL,NULL),(49627,'NCBI Gene Summary',NULL,20042,NULL,'This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(49628,'NCBI Gene PubMed Count',NULL,20042,NULL,NULL,NULL,42,NULL,NULL,NULL),(49629,'NCBI Gene PubMed Count',NULL,20043,NULL,NULL,NULL,37,NULL,NULL,NULL),(49630,'NCBI Gene PubMed Count',NULL,20044,NULL,NULL,NULL,1,NULL,NULL,NULL),(49631,'NCBI Gene PubMed Count',NULL,20045,NULL,NULL,NULL,16,NULL,NULL,NULL),(49632,'NCBI Gene PubMed Count',NULL,20046,NULL,NULL,NULL,8,NULL,NULL,NULL),(49633,'NCBI Gene Summary',NULL,20047,NULL,'This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(49634,'NCBI Gene PubMed Count',NULL,20047,NULL,NULL,NULL,16,NULL,NULL,NULL),(49635,'NCBI Gene Summary',NULL,20048,NULL,'The protein encoded by this gene is related to the nuclear chaperone phosphoproteins, nucleoplasmin and nucleophosmin. This protein is strongly expressed in diverse cell types where it localizes primarily to the nucleus. Based on its similarity to nucleoplasmin and nucleophosmin, this protein likely functions as a molecular chaperone in the cell nucleus. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(49636,'NCBI Gene PubMed Count',NULL,20048,NULL,NULL,NULL,19,NULL,NULL,NULL),(49637,'NCBI Gene Summary',NULL,20049,NULL,'This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(49638,'NCBI Gene PubMed Count',NULL,20049,NULL,NULL,NULL,7,NULL,NULL,NULL),(49639,'NCBI Gene Summary',NULL,20050,NULL,'This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49640,'NCBI Gene PubMed Count',NULL,20050,NULL,NULL,NULL,15,NULL,NULL,NULL),(49641,'NCBI Gene PubMed Count',NULL,20051,NULL,NULL,NULL,75,NULL,NULL,NULL),(49642,'NCBI Gene Summary',NULL,20052,NULL,'This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(49643,'NCBI Gene PubMed Count',NULL,20052,NULL,NULL,NULL,11,NULL,NULL,NULL),(49644,'NCBI Gene PubMed Count',NULL,20053,NULL,NULL,NULL,8,NULL,NULL,NULL),(49645,'NCBI Gene Summary',NULL,20054,NULL,'The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the \"hydrophobic protein\" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49646,'NCBI Gene PubMed Count',NULL,20054,NULL,NULL,NULL,23,NULL,NULL,NULL),(49647,'NCBI Gene Summary',NULL,20055,NULL,'This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(49648,'NCBI Gene PubMed Count',NULL,20055,NULL,NULL,NULL,83,NULL,NULL,NULL),(49649,'NCBI Gene Summary',NULL,20056,NULL,'This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(49650,'NCBI Gene PubMed Count',NULL,20056,NULL,NULL,NULL,12,NULL,NULL,NULL),(49651,'NCBI Gene Summary',NULL,20057,NULL,'This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(49652,'NCBI Gene PubMed Count',NULL,20057,NULL,NULL,NULL,185,NULL,NULL,NULL),(49653,'NCBI Gene Summary',NULL,20058,NULL,'The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as \'protective protein\'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49654,'NCBI Gene PubMed Count',NULL,20058,NULL,NULL,NULL,86,NULL,NULL,NULL),(49655,'NCBI Gene PubMed Count',NULL,20059,NULL,NULL,NULL,7,NULL,NULL,NULL),(49656,'NCBI Gene Summary',NULL,20060,NULL,'The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(49657,'NCBI Gene PubMed Count',NULL,20060,NULL,NULL,NULL,41,NULL,NULL,NULL),(49658,'NCBI Gene PubMed Count',NULL,20061,NULL,NULL,NULL,9,NULL,NULL,NULL),(49659,'NCBI Gene PubMed Count',NULL,20062,NULL,NULL,NULL,5,NULL,NULL,NULL),(49660,'NCBI Gene Summary',NULL,20063,NULL,'This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49661,'NCBI Gene PubMed Count',NULL,20063,NULL,NULL,NULL,65,NULL,NULL,NULL),(49662,'NCBI Gene PubMed Count',NULL,20064,NULL,NULL,NULL,12,NULL,NULL,NULL),(49663,'NCBI Gene Summary',NULL,20065,NULL,'Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49664,'NCBI Gene PubMed Count',NULL,20065,NULL,NULL,NULL,10,NULL,NULL,NULL),(49665,'NCBI Gene Summary',NULL,20066,NULL,'Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(49666,'NCBI Gene PubMed Count',NULL,20066,NULL,NULL,NULL,19,NULL,NULL,NULL),(49667,'NCBI Gene Summary',NULL,20067,NULL,'NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(49668,'NCBI Gene PubMed Count',NULL,20067,NULL,NULL,NULL,9,NULL,NULL,NULL),(49669,'NCBI Gene PubMed Count',NULL,20068,NULL,NULL,NULL,4,NULL,NULL,NULL),(49670,'NCBI Gene Summary',NULL,20069,NULL,'This gene encodes a transcriptional repressor that interacts with specific negative regulatory elements to mediate transcriptional repression of certain nuclear factor kappa B responsive genes. The protein localizes predominantly to the nucleolus with a small fraction found in the nucleoplasm and cytoplasm. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(49671,'NCBI Gene PubMed Count',NULL,20069,NULL,NULL,NULL,31,NULL,NULL,NULL),(49672,'NCBI Gene Summary',NULL,20070,NULL,'Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(49673,'NCBI Gene PubMed Count',NULL,20070,NULL,NULL,NULL,13,NULL,NULL,NULL),(49674,'NCBI Gene Summary',NULL,20071,NULL,'This gene encodes one of two N-myristoyltransferase proteins. N-terminal myristoylation is a lipid modification that is involved in regulating the function and localization of signaling proteins. The encoded protein catalyzes the addition of a myristoyl group to the N-terminal glycine residue of many signaling proteins, including the human immunodeficiency virus type 1 (HIV-1) proteins, Gag and Nef. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(49675,'NCBI Gene PubMed Count',NULL,20071,NULL,NULL,NULL,36,NULL,NULL,NULL),(49676,'NCBI Gene Summary',NULL,20072,NULL,'This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49677,'NCBI Gene PubMed Count',NULL,20072,NULL,NULL,NULL,35,NULL,NULL,NULL),(49678,'NCBI Gene Summary',NULL,20073,NULL,'This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(49679,'NCBI Gene PubMed Count',NULL,20073,NULL,NULL,NULL,45,NULL,NULL,NULL),(49680,'NCBI Gene Summary',NULL,20074,NULL,'This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49681,'NCBI Gene PubMed Count',NULL,20074,NULL,NULL,NULL,114,NULL,NULL,NULL),(49682,'NCBI Gene PubMed Count',NULL,20075,NULL,NULL,NULL,14,NULL,NULL,NULL),(49683,'NCBI Gene Summary',NULL,20076,NULL,'The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(49684,'NCBI Gene PubMed Count',NULL,20076,NULL,NULL,NULL,24,NULL,NULL,NULL),(49685,'NCBI Gene Summary',NULL,20077,NULL,'This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson\'s disease, Alzheimer\'s disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(49686,'NCBI Gene PubMed Count',NULL,20077,NULL,NULL,NULL,45,NULL,NULL,NULL),(49687,'NCBI Gene Summary',NULL,20078,NULL,'N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(49688,'NCBI Gene PubMed Count',NULL,20078,NULL,NULL,NULL,46,NULL,NULL,NULL),(49689,'NCBI Gene Summary',NULL,20079,NULL,'This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-recognition receptor (PRR) that binds bacterial peptidoglycans and initiates inflammation. This protein has also been implicated in the immune response to viral and parasitic infection. Major structural features of this protein include an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. Mutations in this gene are associated with asthma, inflammatory bowel disease, Behcet disease and sarcoidosis in human patients. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(49690,'NCBI Gene PubMed Count',NULL,20079,NULL,NULL,NULL,213,NULL,NULL,NULL),(49691,'NCBI Gene Summary',NULL,20080,NULL,'This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(49692,'NCBI Gene PubMed Count',NULL,20080,NULL,NULL,NULL,14,NULL,NULL,NULL),(49693,'NCBI Gene PubMed Count',NULL,20081,NULL,NULL,NULL,11,NULL,NULL,NULL),(49694,'NCBI Gene Summary',NULL,20082,NULL,'This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49695,'NCBI Gene PubMed Count',NULL,20082,NULL,NULL,NULL,32,NULL,NULL,NULL),(49696,'NCBI Gene Summary',NULL,20083,NULL,'This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(49697,'NCBI Gene PubMed Count',NULL,20083,NULL,NULL,NULL,5,NULL,NULL,NULL),(49698,'NCBI Gene Summary',NULL,20084,NULL,'This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(49699,'NCBI Gene PubMed Count',NULL,20084,NULL,NULL,NULL,14,NULL,NULL,NULL),(49700,'NCBI Gene Summary',NULL,20085,NULL,'NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(49701,'NCBI Gene PubMed Count',NULL,20085,NULL,NULL,NULL,21,NULL,NULL,NULL),(49702,'NCBI Gene PubMed Count',NULL,20086,NULL,NULL,NULL,4,NULL,NULL,NULL),(49703,'NCBI Gene Summary',NULL,20087,NULL,'This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(49704,'NCBI Gene PubMed Count',NULL,20087,NULL,NULL,NULL,150,NULL,NULL,NULL),(49705,'NCBI Gene Summary',NULL,20088,NULL,'This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(49706,'NCBI Gene PubMed Count',NULL,20088,NULL,NULL,NULL,2694,NULL,NULL,NULL),(49707,'NCBI Gene PubMed Count',NULL,20089,NULL,NULL,NULL,10,NULL,NULL,NULL),(49708,'NCBI Gene Summary',NULL,20090,NULL,'This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(49709,'NCBI Gene PubMed Count',NULL,20090,NULL,NULL,NULL,23,NULL,NULL,NULL),(49710,'NCBI Gene Summary',NULL,20091,NULL,'This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the developing central and peripheral nervous systems. The protein product of this gene also plays a role in the differentiation and survival of midbrain dopaminergic neurons. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(49711,'NCBI Gene PubMed Count',NULL,20091,NULL,NULL,NULL,14,NULL,NULL,NULL),(49712,'NCBI Gene Summary',NULL,20092,NULL,'This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(49713,'NCBI Gene PubMed Count',NULL,20092,NULL,NULL,NULL,4,NULL,NULL,NULL),(49714,'NCBI Gene Summary',NULL,20093,NULL,'Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(49715,'NCBI Gene PubMed Count',NULL,20093,NULL,NULL,NULL,12,NULL,NULL,NULL),(49716,'NCBI Gene Summary',NULL,20094,NULL,'This gene encodes a member of the nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus ammonia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(49717,'NCBI Gene PubMed Count',NULL,20094,NULL,NULL,NULL,13,NULL,NULL,NULL),(49718,'NCBI Gene Summary',NULL,20095,NULL,'Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49719,'NCBI Gene PubMed Count',NULL,20095,NULL,NULL,NULL,45,NULL,NULL,NULL),(49720,'NCBI Gene Summary',NULL,20096,NULL,'The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3\'-to-5\' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]',NULL,NULL,NULL,NULL,NULL),(49721,'NCBI Gene PubMed Count',NULL,20096,NULL,NULL,NULL,45,NULL,NULL,NULL),(49722,'NCBI Gene Summary',NULL,20097,NULL,'This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49723,'NCBI Gene PubMed Count',NULL,20097,NULL,NULL,NULL,78,NULL,NULL,NULL),(49724,'NCBI Gene Summary',NULL,20098,NULL,'NKAIN1 is a member of a family of mammalian proteins with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(49725,'NCBI Gene PubMed Count',NULL,20098,NULL,NULL,NULL,7,NULL,NULL,NULL),(49726,'NCBI Gene Summary',NULL,20099,NULL,'This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor. [provided by RefSeq, Jan 2013]',NULL,NULL,NULL,NULL,NULL),(49727,'NCBI Gene PubMed Count',NULL,20099,NULL,NULL,NULL,37,NULL,NULL,NULL),(49728,'NCBI Gene Summary',NULL,20100,NULL,'This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(49729,'NCBI Gene PubMed Count',NULL,20100,NULL,NULL,NULL,18,NULL,NULL,NULL),(49730,'NCBI Gene Summary',NULL,20101,NULL,'The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49731,'NCBI Gene PubMed Count',NULL,20101,NULL,NULL,NULL,29,NULL,NULL,NULL),(49732,'NCBI Gene Summary',NULL,20102,NULL,'This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(49733,'NCBI Gene PubMed Count',NULL,20102,NULL,NULL,NULL,172,NULL,NULL,NULL),(49734,'NCBI Gene Summary',NULL,20103,NULL,'This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called \'tinman\', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(49735,'NCBI Gene PubMed Count',NULL,20103,NULL,NULL,NULL,13,NULL,NULL,NULL),(49736,'NCBI Gene Summary',NULL,20104,NULL,'This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]',NULL,NULL,NULL,NULL,NULL),(49737,'NCBI Gene PubMed Count',NULL,20104,NULL,NULL,NULL,59,NULL,NULL,NULL),(49738,'NCBI Gene Summary',NULL,20105,NULL,'This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012]',NULL,NULL,NULL,NULL,NULL),(49739,'NCBI Gene PubMed Count',NULL,20105,NULL,NULL,NULL,9,NULL,NULL,NULL),(49740,'NCBI Gene Summary',NULL,20106,NULL,'This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(49741,'NCBI Gene PubMed Count',NULL,20106,NULL,NULL,NULL,21,NULL,NULL,NULL),(49742,'NCBI Gene Summary',NULL,20107,NULL,'This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for \"nuclear respiratory factor 1\" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49743,'NCBI Gene PubMed Count',NULL,20107,NULL,NULL,NULL,51,NULL,NULL,NULL),(49744,'NCBI Gene Summary',NULL,20108,NULL,'The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49745,'NCBI Gene PubMed Count',NULL,20108,NULL,NULL,NULL,8,NULL,NULL,NULL),(49746,'NCBI Gene Summary',NULL,20109,NULL,'This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(49747,'NCBI Gene PubMed Count',NULL,20109,NULL,NULL,NULL,34,NULL,NULL,NULL),(49748,'NCBI Gene Summary',NULL,20110,NULL,'This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49749,'NCBI Gene PubMed Count',NULL,20110,NULL,NULL,NULL,46,NULL,NULL,NULL),(49750,'NCBI Gene Summary',NULL,20111,NULL,'The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5\'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5\'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(49751,'NCBI Gene PubMed Count',NULL,20111,NULL,NULL,NULL,25,NULL,NULL,NULL),(49752,'NCBI Gene Summary',NULL,20112,NULL,'In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(49753,'NCBI Gene PubMed Count',NULL,20112,NULL,NULL,NULL,24,NULL,NULL,NULL),(49754,'NCBI Gene PubMed Count',NULL,20113,NULL,NULL,NULL,6,NULL,NULL,NULL),(49755,'NCBI Gene Summary',NULL,20114,NULL,'In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM, Jun 2003]',NULL,NULL,NULL,NULL,NULL),(49756,'NCBI Gene PubMed Count',NULL,20114,NULL,NULL,NULL,21,NULL,NULL,NULL),(49757,'NCBI Gene Summary',NULL,20115,NULL,'This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49758,'NCBI Gene PubMed Count',NULL,20115,NULL,NULL,NULL,22,NULL,NULL,NULL),(49759,'NCBI Gene Summary',NULL,20116,NULL,'This gene encodes a type I membrane protein that belongs to the family of neuroligins, which are cell adhesion molecules present at the postsynaptic side of the synapse, and may be essential for the formation of functional synapses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(49760,'NCBI Gene PubMed Count',NULL,20116,NULL,NULL,NULL,19,NULL,NULL,NULL),(49761,'NCBI Gene Summary',NULL,20117,NULL,'This gene encodes a member of the bombesin-like family of neuropeptides, which negatively regulate eating behavior. The encoded protein may regulate colonic smooth muscle contraction through binding to its cognate receptor, the neuromedin B receptor (NMBR). Polymorphisms of this gene may be associated with hunger, weight gain and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(49762,'NCBI Gene PubMed Count',NULL,20117,NULL,NULL,NULL,30,NULL,NULL,NULL),(49763,'NCBI Gene PubMed Count',NULL,20118,NULL,NULL,NULL,11,NULL,NULL,NULL),(49764,'NCBI Gene Summary',NULL,20119,NULL,'The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(49765,'NCBI Gene PubMed Count',NULL,20119,NULL,NULL,NULL,28,NULL,NULL,NULL),(49766,'NCBI Gene Summary',NULL,20120,NULL,'This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(49767,'NCBI Gene PubMed Count',NULL,20120,NULL,NULL,NULL,18,NULL,NULL,NULL),(49768,'NCBI Gene Summary',NULL,20121,NULL,'This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which regulates early embryonic development. This protein is required for maintenance of human embryonic stem cell pluripotency and may play a role in human placental development. Mutations in this gene are associated with heterotaxy, a condition characterized by random orientation of visceral organs with respect to the left-right axis. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(49769,'NCBI Gene PubMed Count',NULL,20121,NULL,NULL,NULL,102,NULL,NULL,NULL),(49770,'NCBI Gene PubMed Count',NULL,20122,NULL,NULL,NULL,17,NULL,NULL,NULL),(49771,'NCBI Gene Summary',NULL,20123,NULL,'Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(49772,'NCBI Gene PubMed Count',NULL,20123,NULL,NULL,NULL,9,NULL,NULL,NULL),(49773,'NCBI Gene PubMed Count',NULL,20124,NULL,NULL,NULL,14,NULL,NULL,NULL),(49774,'NCBI Gene Summary',NULL,20125,NULL,'The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49775,'NCBI Gene PubMed Count',NULL,20125,NULL,NULL,NULL,96,NULL,NULL,NULL),(49776,'NCBI Gene PubMed Count',NULL,20126,NULL,NULL,NULL,15,NULL,NULL,NULL),(49777,'NCBI Gene PubMed Count',NULL,20127,NULL,NULL,NULL,15,NULL,NULL,NULL),(49778,'NCBI Gene Summary',NULL,20128,NULL,'This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(49779,'NCBI Gene PubMed Count',NULL,20128,NULL,NULL,NULL,40,NULL,NULL,NULL),(49780,'NCBI Gene Summary',NULL,20129,NULL,'This gene is located in the Prader-Willi syndrome region on chromosome 15. This gene is biallelically expressed in adult testis and brain but is paternally imprinted in fetal brain. Defects in this gene may be associated with Prader-Willi syndrome. [provided by RefSeq, Aug 2012]',NULL,NULL,NULL,NULL,NULL),(49781,'NCBI Gene PubMed Count',NULL,20129,NULL,NULL,NULL,11,NULL,NULL,NULL),(49782,'NCBI Gene Summary',NULL,20130,NULL,'Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(49783,'NCBI Gene PubMed Count',NULL,20130,NULL,NULL,NULL,1926,NULL,NULL,NULL),(49784,'NCBI Gene Summary',NULL,20131,NULL,'This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]',NULL,NULL,NULL,NULL,NULL),(49785,'NCBI Gene PubMed Count',NULL,20131,NULL,NULL,NULL,305,NULL,NULL,NULL),(49786,'NCBI Gene PubMed Count',NULL,20132,NULL,NULL,NULL,18,NULL,NULL,NULL),(49787,'NCBI Gene Summary',NULL,20133,NULL,'This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(49788,'NCBI Gene PubMed Count',NULL,20133,NULL,NULL,NULL,96,NULL,NULL,NULL),(49789,'NCBI Gene PubMed Count',NULL,20134,NULL,NULL,NULL,19,NULL,NULL,NULL),(49790,'NCBI Gene Summary',NULL,20135,NULL,'The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49791,'NCBI Gene PubMed Count',NULL,20135,NULL,NULL,NULL,119,NULL,NULL,NULL),(49792,'NCBI Gene Summary',NULL,20136,NULL,'This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. The protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(49793,'NCBI Gene PubMed Count',NULL,20136,NULL,NULL,NULL,105,NULL,NULL,NULL),(49794,'NCBI Gene PubMed Count',NULL,20137,NULL,NULL,NULL,10,NULL,NULL,NULL),(49795,'NCBI Gene Summary',NULL,20138,NULL,'This gene encodes a member of the netrin family of proteins, which function in various biological processes including axon guidance, tumorogenesis, and angiogenesis. Netrins are laminin-related proteins that have an N-terminal laminin-type domain, epidermal growth factor-like repeat domain, and a positively charged heparin-binding domain at the C-terminus. The protein encoded by this gene is involved in processes including neurite growth and migration, angiogenesis and mural cell adhesion to endothelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]',NULL,NULL,NULL,NULL,NULL),(49796,'NCBI Gene PubMed Count',NULL,20138,NULL,NULL,NULL,35,NULL,NULL,NULL),(49797,'NCBI Gene PubMed Count',NULL,20139,NULL,NULL,NULL,63,NULL,NULL,NULL),(49798,'NCBI Gene Summary',NULL,20140,NULL,'This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(49799,'NCBI Gene PubMed Count',NULL,20140,NULL,NULL,NULL,22,NULL,NULL,NULL),(49800,'NCBI Gene PubMed Count',NULL,20141,NULL,NULL,NULL,3,NULL,NULL,NULL),(49801,'NCBI Gene Summary',NULL,20142,NULL,'The ninjurin protein is upregulated after nerve injury both in dorsal root ganglion neurons and in Schwann cells (Araki and Milbrandt, 1996 [PubMed 8780658]). It demonstrates properties of a homophilic adhesion molecule and promotes neurite outgrowth from primary cultured dorsal root ganglion neurons.[supplied by OMIM, Aug 2009]',NULL,NULL,NULL,NULL,NULL),(49802,'NCBI Gene PubMed Count',NULL,20142,NULL,NULL,NULL,24,NULL,NULL,NULL),(49803,'NCBI Gene Summary',NULL,20143,NULL,'The protein encoded by this gene belongs to the ninjurin (for nerve injury induced) family. It is a cell surface adhesion protein that is upregulated in Schwann cells surrounding the distal segment of injured nerve, and promotes neurite outgrowth, thus may have a role in nerve regeneration after nerve injury. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(49804,'NCBI Gene PubMed Count',NULL,20143,NULL,NULL,NULL,19,NULL,NULL,NULL),(49805,'NCBI Gene Summary',NULL,20144,NULL,'This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(49806,'NCBI Gene PubMed Count',NULL,20144,NULL,NULL,NULL,32,NULL,NULL,NULL),(49807,'NCBI Gene Summary',NULL,20145,NULL,'This locus represents naturally occurring read-through transcription between the neighboring KLRC4 (killer cell lectin-like receptor subfamily C, member 4) and KLRK1 (killer cell lectin-like receptor subfamily K, member 1) genes on chromosome 12. The read-through transcript includes an alternate 5\' exon and lacks a significant portion of the KLRC4 coding sequence, including the start codon, and it thus encodes the KLRK1 protein. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(49808,'NCBI Gene PubMed Count',NULL,20145,NULL,NULL,NULL,32,NULL,NULL,NULL),(49809,'NCBI Gene Summary',NULL,20146,NULL,'NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(49810,'NCBI Gene PubMed Count',NULL,20146,NULL,NULL,NULL,9,NULL,NULL,NULL),(49811,'NCBI Gene Summary',NULL,20147,NULL,'This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(49812,'NCBI Gene PubMed Count',NULL,20147,NULL,NULL,NULL,46,NULL,NULL,NULL),(49813,'NCBI Gene Summary',NULL,20148,NULL,'This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(49814,'NCBI Gene PubMed Count',NULL,20148,NULL,NULL,NULL,15,NULL,NULL,NULL),(49815,'NCBI Gene Summary',NULL,20149,NULL,'N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49816,'NCBI Gene PubMed Count',NULL,20149,NULL,NULL,NULL,77,NULL,NULL,NULL),(49817,'NCBI Gene PubMed Count',NULL,20150,NULL,NULL,NULL,2,NULL,NULL,NULL),(49818,'NCBI Gene Summary',NULL,20151,NULL,'Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM, Jul 2002]',NULL,NULL,NULL,NULL,NULL),(49819,'NCBI Gene PubMed Count',NULL,20151,NULL,NULL,NULL,39,NULL,NULL,NULL),(49820,'NCBI Gene Summary',NULL,20152,NULL,'The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5\' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3\'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49821,'NCBI Gene PubMed Count',NULL,20152,NULL,NULL,NULL,47,NULL,NULL,NULL),(49822,'NCBI Gene Summary',NULL,20153,NULL,'This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(49823,'NCBI Gene PubMed Count',NULL,20153,NULL,NULL,NULL,59,NULL,NULL,NULL),(49824,'NCBI Gene Summary',NULL,20154,NULL,'This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49825,'NCBI Gene PubMed Count',NULL,20154,NULL,NULL,NULL,21,NULL,NULL,NULL),(49826,'NCBI Gene PubMed Count',NULL,20155,NULL,NULL,NULL,22,NULL,NULL,NULL),(49827,'NCBI Gene Summary',NULL,20156,NULL,'The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49828,'NCBI Gene PubMed Count',NULL,20156,NULL,NULL,NULL,12,NULL,NULL,NULL),(49829,'NCBI Gene Summary',NULL,20157,NULL,'This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]',NULL,NULL,NULL,NULL,NULL),(49830,'NCBI Gene PubMed Count',NULL,20157,NULL,NULL,NULL,9,NULL,NULL,NULL),(49831,'NCBI Gene PubMed Count',NULL,20158,NULL,NULL,NULL,19,NULL,NULL,NULL),(49832,'NCBI Gene Summary',NULL,20159,NULL,'This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5\'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(49833,'NCBI Gene PubMed Count',NULL,20159,NULL,NULL,NULL,20,NULL,NULL,NULL),(49834,'NCBI Gene Summary',NULL,20160,NULL,'This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(49835,'NCBI Gene PubMed Count',NULL,20160,NULL,NULL,NULL,41,NULL,NULL,NULL),(49836,'NCBI Gene Summary',NULL,20161,NULL,'This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(49837,'NCBI Gene PubMed Count',NULL,20161,NULL,NULL,NULL,19,NULL,NULL,NULL),(49838,'NCBI Gene PubMed Count',NULL,20162,NULL,NULL,NULL,8,NULL,NULL,NULL),(49839,'NCBI Gene Summary',NULL,20163,NULL,'This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]',NULL,NULL,NULL,NULL,NULL),(49840,'NCBI Gene PubMed Count',NULL,20163,NULL,NULL,NULL,49,NULL,NULL,NULL),(49841,'NCBI Gene Summary',NULL,20164,NULL,'This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(49842,'NCBI Gene PubMed Count',NULL,20164,NULL,NULL,NULL,51,NULL,NULL,NULL),(49843,'NCBI Gene Summary',NULL,20165,NULL,'This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(49844,'NCBI Gene PubMed Count',NULL,20165,NULL,NULL,NULL,56,NULL,NULL,NULL),(49845,'NCBI Gene Summary',NULL,20166,NULL,'This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Jul 2017]',NULL,NULL,NULL,NULL,NULL),(49846,'NCBI Gene PubMed Count',NULL,20166,NULL,NULL,NULL,29,NULL,NULL,NULL),(49847,'NCBI Gene Summary',NULL,20167,NULL,'The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(49848,'NCBI Gene PubMed Count',NULL,20167,NULL,NULL,NULL,46,NULL,NULL,NULL),(49849,'NCBI Gene Summary',NULL,20168,NULL,'MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49850,'NCBI Gene PubMed Count',NULL,20168,NULL,NULL,NULL,245,NULL,NULL,NULL),(49851,'NCBI Gene PubMed Count',NULL,20169,NULL,NULL,NULL,9,NULL,NULL,NULL),(49852,'NCBI Gene PubMed Count',NULL,20170,NULL,NULL,NULL,13,NULL,NULL,NULL),(49853,'NCBI Gene PubMed Count',NULL,20171,NULL,NULL,NULL,14,NULL,NULL,NULL),(49854,'NCBI Gene Summary',NULL,20172,NULL,'The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49855,'NCBI Gene PubMed Count',NULL,20172,NULL,NULL,NULL,28,NULL,NULL,NULL),(49856,'NCBI Gene PubMed Count',NULL,20173,NULL,NULL,NULL,2,NULL,NULL,NULL),(49857,'NCBI Gene Summary',NULL,20174,NULL,'The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49858,'NCBI Gene PubMed Count',NULL,20174,NULL,NULL,NULL,23,NULL,NULL,NULL),(49859,'NCBI Gene Summary',NULL,20175,NULL,'This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49860,'NCBI Gene PubMed Count',NULL,20175,NULL,NULL,NULL,52,NULL,NULL,NULL),(49861,'NCBI Gene Summary',NULL,20176,NULL,'The neutrophil cytosolic factor 1 (NCF1) gene encodes the 47 kDa cytosolic subunit of neutrophil NADPH oxidase, which produces superoxide anion. The NCF1 gene is located in close proximity to two highly similar, multi-exon pseudogenes at chromosome 7q11.23, corresponding to this gene record and GeneID:654816. The two pseudogenes contain a dinucleotide deletion (delta-GT) in exon 2 that results in a frameshift and truncation of the open reading frame, and neither pseudogene is likely to express a protein. Recombination events between the pseudogenes and the functional NCF1 gene can inactivate the NCF1 gene and result in chronic granulomatous disease. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(49862,'NCBI Gene PubMed Count',NULL,20176,NULL,NULL,NULL,11,NULL,NULL,NULL),(49863,'NCBI Gene Summary',NULL,20177,NULL,'This gene encodes the major component of the vault complex. Vaults are multi-subunit ribonucleoprotein structures that may be involved in nucleo-cytoplasmic transport. The encoded protein may play a role in multiple cellular processes by regulating the MAP kinase, JAK/STAT and phosphoinositide 3-kinase/Akt signaling pathways. The encoded protein also plays a role in multidrug resistance, and expression of this gene may be a prognostic marker for several types of cancer. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]',NULL,NULL,NULL,NULL,NULL),(49864,'NCBI Gene PubMed Count',NULL,20177,NULL,NULL,NULL,110,NULL,NULL,NULL),(49865,'NCBI Gene Summary',NULL,20178,NULL,'The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49866,'NCBI Gene PubMed Count',NULL,20178,NULL,NULL,NULL,15,NULL,NULL,NULL),(49867,'NCBI Gene Summary',NULL,20179,NULL,'This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that participates in the cellular antiviral response. The encoded protein is induced by type I and type II interferons and antagonizes the replication process of several different RNA and DNA viruses. There is a related gene located adjacent to this gene on chromosome 21, and there are multiple pseudogenes located in a cluster on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]',NULL,NULL,NULL,NULL,NULL),(49868,'NCBI Gene PubMed Count',NULL,20179,NULL,NULL,NULL,174,NULL,NULL,NULL),(49869,'NCBI Gene PubMed Count',NULL,20180,NULL,NULL,NULL,15,NULL,NULL,NULL),(49870,'NCBI Gene Summary',NULL,20181,NULL,'Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(49871,'NCBI Gene PubMed Count',NULL,20181,NULL,NULL,NULL,18,NULL,NULL,NULL),(49872,'NCBI Gene Summary',NULL,20182,NULL,'This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(49873,'NCBI Gene PubMed Count',NULL,20182,NULL,NULL,NULL,1762,NULL,NULL,NULL),(49874,'NCBI Gene PubMed Count',NULL,20183,NULL,NULL,NULL,8,NULL,NULL,NULL),(49875,'NCBI Gene PubMed Count',NULL,20184,NULL,NULL,NULL,9,NULL,NULL,NULL),(49876,'NCBI Gene Summary',NULL,20185,NULL,'Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]',NULL,NULL,NULL,NULL,NULL),(49877,'NCBI Gene PubMed Count',NULL,20185,NULL,NULL,NULL,13,NULL,NULL,NULL),(49878,'NCBI Gene Summary',NULL,20186,NULL,'This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(49879,'NCBI Gene PubMed Count',NULL,20186,NULL,NULL,NULL,78,NULL,NULL,NULL),(49880,'NCBI Gene PubMed Count',NULL,20187,NULL,NULL,NULL,7,NULL,NULL,NULL),(49881,'NCBI Gene Summary',NULL,20188,NULL,'Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49882,'NCBI Gene PubMed Count',NULL,20188,NULL,NULL,NULL,19,NULL,NULL,NULL),(49883,'NCBI Gene Summary',NULL,20189,NULL,'This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(49884,'NCBI Gene PubMed Count',NULL,20189,NULL,NULL,NULL,43,NULL,NULL,NULL),(49885,'NCBI Gene PubMed Count',NULL,20190,NULL,NULL,NULL,5,NULL,NULL,NULL),(49886,'NCBI Gene Summary',NULL,20191,NULL,'This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(49887,'NCBI Gene PubMed Count',NULL,20191,NULL,NULL,NULL,39,NULL,NULL,NULL),(49888,'NCBI Gene Summary',NULL,20192,NULL,'NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(49889,'NCBI Gene PubMed Count',NULL,20192,NULL,NULL,NULL,24,NULL,NULL,NULL),(49890,'NCBI Gene Summary',NULL,20193,NULL,'This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]',NULL,NULL,NULL,NULL,NULL),(49891,'NCBI Gene PubMed Count',NULL,20193,NULL,NULL,NULL,9,NULL,NULL,NULL),(49892,'NCBI Gene Summary',NULL,20194,NULL,'This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]',NULL,NULL,NULL,NULL,NULL),(49893,'NCBI Gene PubMed Count',NULL,20194,NULL,NULL,NULL,7,NULL,NULL,NULL),(49894,'NCBI Gene Summary',NULL,20195,NULL,'This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(49895,'NCBI Gene PubMed Count',NULL,20195,NULL,NULL,NULL,40,NULL,NULL,NULL),(49896,'NCBI Gene Summary',NULL,20196,NULL,'Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]',NULL,NULL,NULL,NULL,NULL),(49897,'NCBI Gene PubMed Count',NULL,20196,NULL,NULL,NULL,29,NULL,NULL,NULL),(49898,'NCBI Gene PubMed Count',NULL,20197,NULL,NULL,NULL,8,NULL,NULL,NULL),(49899,'NCBI Gene Summary',NULL,20198,NULL,'This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49900,'NCBI Gene PubMed Count',NULL,20198,NULL,NULL,NULL,39,NULL,NULL,NULL),(49901,'NCBI Gene Summary',NULL,20199,NULL,'Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49902,'NCBI Gene PubMed Count',NULL,20199,NULL,NULL,NULL,10,NULL,NULL,NULL),(49903,'NCBI Gene Summary',NULL,20200,NULL,'This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(49904,'NCBI Gene PubMed Count',NULL,20200,NULL,NULL,NULL,25,NULL,NULL,NULL),(49905,'NCBI Gene Summary',NULL,20201,NULL,'The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(49906,'NCBI Gene PubMed Count',NULL,20201,NULL,NULL,NULL,25,NULL,NULL,NULL),(49907,'NCBI Gene PubMed Count',NULL,20202,NULL,NULL,NULL,13,NULL,NULL,NULL),(49908,'NCBI Gene Summary',NULL,20203,NULL,'This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]',NULL,NULL,NULL,NULL,NULL),(49909,'NCBI Gene PubMed Count',NULL,20203,NULL,NULL,NULL,39,NULL,NULL,NULL),(49910,'NCBI Gene Summary',NULL,20204,NULL,'This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49911,'NCBI Gene PubMed Count',NULL,20204,NULL,NULL,NULL,20,NULL,NULL,NULL),(49912,'NCBI Gene PubMed Count',NULL,20205,NULL,NULL,NULL,20,NULL,NULL,NULL),(49913,'NCBI Gene PubMed Count',NULL,20206,NULL,NULL,NULL,7,NULL,NULL,NULL),(49914,'NCBI Gene PubMed Count',NULL,20207,NULL,NULL,NULL,9,NULL,NULL,NULL),(49915,'NCBI Gene Summary',NULL,20208,NULL,'This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein belongs to the nicotinic acid phosphoribosyltransferase (NAPRTase) family and is thought to be involved in many important biological processes, including metabolism, stress response and aging. This gene has a pseudogene on chromosome 10. [provided by RefSeq, Feb 2011]',NULL,NULL,NULL,NULL,NULL),(49916,'NCBI Gene PubMed Count',NULL,20208,NULL,NULL,NULL,456,NULL,NULL,NULL),(49917,'NCBI Gene Summary',NULL,20209,NULL,'This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49918,'NCBI Gene PubMed Count',NULL,20209,NULL,NULL,NULL,63,NULL,NULL,NULL),(49919,'NCBI Gene Summary',NULL,20210,NULL,'The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(49920,'NCBI Gene PubMed Count',NULL,20210,NULL,NULL,NULL,8,NULL,NULL,NULL),(49921,'NCBI Gene Summary',NULL,20211,NULL,'This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(49922,'NCBI Gene PubMed Count',NULL,20211,NULL,NULL,NULL,22,NULL,NULL,NULL),(49923,'NCBI Gene Summary',NULL,20212,NULL,'The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49924,'NCBI Gene PubMed Count',NULL,20212,NULL,NULL,NULL,77,NULL,NULL,NULL),(49925,'NCBI Gene PubMed Count',NULL,20213,NULL,NULL,NULL,3,NULL,NULL,NULL),(49926,'NCBI Gene Summary',NULL,20214,NULL,'This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer\'s disease, and Huntington\'s disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(49927,'NCBI Gene PubMed Count',NULL,20214,NULL,NULL,NULL,23,NULL,NULL,NULL),(49928,'NCBI Gene Summary',NULL,20215,NULL,'This gene encodes a CCHC-type zinc finger protein that is a member of the nanos family. This protein co-localizes with the RNA-binding protein pumilio RNA-binding family member 2 and may be involved in regulating translation as a post-transcriptional repressor. Mutations in this gene are associated with spermatogenic impairment. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(49929,'NCBI Gene PubMed Count',NULL,20215,NULL,NULL,NULL,12,NULL,NULL,NULL),(49930,'NCBI Gene Summary',NULL,20216,NULL,'The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. The encoded protein can block ES cell differentiation and can also autorepress its own expression in differentiating cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]',NULL,NULL,NULL,NULL,NULL),(49931,'NCBI Gene PubMed Count',NULL,20216,NULL,NULL,NULL,252,NULL,NULL,NULL),(49932,'NCBI Gene Summary',NULL,20217,NULL,'NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by OMIM, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(49933,'NCBI Gene PubMed Count',NULL,20217,NULL,NULL,NULL,18,NULL,NULL,NULL),(49934,'NCBI Gene Summary',NULL,20218,NULL,'This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(49935,'NCBI Gene PubMed Count',NULL,20218,NULL,NULL,NULL,121,NULL,NULL,NULL),(49936,'NCBI Gene Summary',NULL,20219,NULL,'This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]',NULL,NULL,NULL,NULL,NULL),(49937,'NCBI Gene PubMed Count',NULL,20219,NULL,NULL,NULL,4,NULL,NULL,NULL),(49938,'NCBI Gene Summary',NULL,20220,NULL,'This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(49939,'NCBI Gene PubMed Count',NULL,20220,NULL,NULL,NULL,1,NULL,NULL,NULL),(49940,'NCBI Gene Summary',NULL,20221,NULL,'This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]',NULL,NULL,NULL,NULL,NULL),(49941,'NCBI Gene PubMed Count',NULL,20221,NULL,NULL,NULL,49,NULL,NULL,NULL),(49942,'NCBI Gene Summary',NULL,20222,NULL,'This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011]',NULL,NULL,NULL,NULL,NULL),(49943,'NCBI Gene PubMed Count',NULL,20222,NULL,NULL,NULL,153,NULL,NULL,NULL),(49944,'NCBI Gene Summary',NULL,20223,NULL,'The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008]',NULL,NULL,NULL,NULL,NULL),(49945,'NCBI Gene PubMed Count',NULL,20223,NULL,NULL,NULL,26,NULL,NULL,NULL),(49946,'NCBI Gene Summary',NULL,20224,NULL,'This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]',NULL,NULL,NULL,NULL,NULL),(49947,'NCBI Gene PubMed Count',NULL,20224,NULL,NULL,NULL,28,NULL,NULL,NULL),(49948,'NCBI Gene Summary',NULL,20225,NULL,'This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011]',NULL,NULL,NULL,NULL,NULL),(49949,'NCBI Gene PubMed Count',NULL,20225,NULL,NULL,NULL,16,NULL,NULL,NULL),(49950,'NCBI Gene Summary',NULL,20226,NULL,'The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]',NULL,NULL,NULL,NULL,NULL),(49951,'NCBI Gene PubMed Count',NULL,20226,NULL,NULL,NULL,26,NULL,NULL,NULL),(49952,'NCBI Gene Summary',NULL,20227,NULL,'This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]',NULL,NULL,NULL,NULL,NULL),(49953,'NCBI Gene PubMed Count',NULL,20227,NULL,NULL,NULL,253,NULL,NULL,NULL),(49954,'NCBI Gene Summary',NULL,20228,NULL,'This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(49955,'NCBI Gene PubMed Count',NULL,20228,NULL,NULL,NULL,33,NULL,NULL,NULL),(49956,'NCBI Gene PubMed Count',NULL,20229,NULL,NULL,NULL,10,NULL,NULL,NULL),(49957,'NCBI Gene Summary',NULL,20230,NULL,'Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphatase target) and small regulatory subunit (sm-M20). Two isoforms of MYPT have been isolated--MYPT1 and MYPT2, the first of which is widely expressed, and the second of which may be specific to heart, skeletal muscle, and brain. Each of the MYPT isoforms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding different isoforms have been identified. Related pseudogenes have been defined on the Y chromosome. [provided by RefSeq, Oct 2011]',NULL,NULL,NULL,NULL,NULL),(49958,'NCBI Gene PubMed Count',NULL,20230,NULL,NULL,NULL,27,NULL,NULL,NULL),(49959,'NCBI Gene PubMed Count',NULL,20231,NULL,NULL,NULL,19,NULL,NULL,NULL),(49960,'NCBI Gene PubMed Count',NULL,20232,NULL,NULL,NULL,12,NULL,NULL,NULL),(49961,'NCBI Gene Summary',NULL,20233,NULL,'The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(49962,'NCBI Gene PubMed Count',NULL,20233,NULL,NULL,NULL,90,NULL,NULL,NULL),(49963,'NCBI Gene Summary',NULL,20234,NULL,'Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as \'uncovering enzyme\' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(49964,'NCBI Gene PubMed Count',NULL,20234,NULL,NULL,NULL,21,NULL,NULL,NULL),(49965,'NCBI Gene Summary',NULL,20235,NULL,'This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(49966,'NCBI Gene PubMed Count',NULL,20235,NULL,NULL,NULL,23,NULL,NULL,NULL),(49967,'NCBI Gene Summary',NULL,20236,NULL,'The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49968,'NCBI Gene PubMed Count',NULL,20236,NULL,NULL,NULL,15,NULL,NULL,NULL),(49969,'NCBI Gene PubMed Count',NULL,20237,NULL,NULL,NULL,15,NULL,NULL,NULL),(49970,'NCBI Gene Summary',NULL,20238,NULL,'The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(49971,'NCBI Gene PubMed Count',NULL,20238,NULL,NULL,NULL,92,NULL,NULL,NULL),(49972,'NCBI Gene Summary',NULL,20239,NULL,'This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(49973,'NCBI Gene PubMed Count',NULL,20239,NULL,NULL,NULL,35,NULL,NULL,NULL),(49974,'NCBI Gene Summary',NULL,20240,NULL,'Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49975,'NCBI Gene PubMed Count',NULL,20240,NULL,NULL,NULL,43,NULL,NULL,NULL),(49976,'NCBI Gene PubMed Count',NULL,20241,NULL,NULL,NULL,12,NULL,NULL,NULL),(49977,'NCBI Gene Summary',NULL,20242,NULL,'The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49978,'NCBI Gene PubMed Count',NULL,20242,NULL,NULL,NULL,28,NULL,NULL,NULL),(49979,'NCBI Gene Summary',NULL,20243,NULL,'This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(49980,'NCBI Gene PubMed Count',NULL,20243,NULL,NULL,NULL,73,NULL,NULL,NULL),(49981,'NCBI Gene PubMed Count',NULL,20244,NULL,NULL,NULL,16,NULL,NULL,NULL),(49982,'NCBI Gene Summary',NULL,20245,NULL,'The protein encoded by this gene is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskeleton and is essential for proper microvilli function. This protein aids in the accumulation of intermicrovillar adhesion components such as harmonin and ANKS4B, and this accumulation is necessary for normal brush border action. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(49983,'NCBI Gene PubMed Count',NULL,20245,NULL,NULL,NULL,17,NULL,NULL,NULL),(49984,'NCBI Gene PubMed Count',NULL,20246,NULL,NULL,NULL,8,NULL,NULL,NULL),(49985,'NCBI Gene Summary',NULL,20247,NULL,'This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(49986,'NCBI Gene PubMed Count',NULL,20247,NULL,NULL,NULL,39,NULL,NULL,NULL),(49987,'NCBI Gene Summary',NULL,20248,NULL,'The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(49988,'NCBI Gene PubMed Count',NULL,20248,NULL,NULL,NULL,18,NULL,NULL,NULL),(49989,'NCBI Gene Summary',NULL,20249,NULL,'This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(49990,'NCBI Gene PubMed Count',NULL,20249,NULL,NULL,NULL,34,NULL,NULL,NULL),(49991,'NCBI Gene PubMed Count',NULL,20250,NULL,NULL,NULL,13,NULL,NULL,NULL),(49992,'NCBI Gene PubMed Count',NULL,20251,NULL,NULL,NULL,3,NULL,NULL,NULL),(49993,'NCBI Gene PubMed Count',NULL,20252,NULL,NULL,NULL,10,NULL,NULL,NULL),(49994,'NCBI Gene PubMed Count',NULL,20253,NULL,NULL,NULL,8,NULL,NULL,NULL),(49995,'NCBI Gene Summary',NULL,20254,NULL,'The protein encoded by this gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). This gene product has a demonstrated role as a negative regulator of autophagy and type I interferon signaling pathways as a result of protein interactions with its NACHT domain. The PYD domain has also been shown to be important in the inhibition of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells). [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(49996,'NCBI Gene PubMed Count',NULL,20254,NULL,NULL,NULL,20,NULL,NULL,NULL),(49997,'NCBI Gene Summary',NULL,20255,NULL,'The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(49998,'NCBI Gene PubMed Count',NULL,20255,NULL,NULL,NULL,13,NULL,NULL,NULL),(49999,'NCBI Gene PubMed Count',NULL,20256,NULL,NULL,NULL,14,NULL,NULL,NULL),(50000,'NCBI Gene Summary',NULL,20257,NULL,'This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50001,'NCBI Gene PubMed Count',NULL,20257,NULL,NULL,NULL,30,NULL,NULL,NULL),(50002,'NCBI Gene Summary',NULL,20258,NULL,'This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(50003,'NCBI Gene PubMed Count',NULL,20258,NULL,NULL,NULL,7,NULL,NULL,NULL),(50004,'NCBI Gene Summary',NULL,20259,NULL,'The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5\' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3\'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50005,'NCBI Gene PubMed Count',NULL,20259,NULL,NULL,NULL,65,NULL,NULL,NULL),(50006,'NCBI Gene PubMed Count',NULL,20260,NULL,NULL,NULL,33,NULL,NULL,NULL),(50007,'NCBI Gene PubMed Count',NULL,20261,NULL,NULL,NULL,24,NULL,NULL,NULL),(50008,'NCBI Gene Summary',NULL,20262,NULL,'The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(50009,'NCBI Gene PubMed Count',NULL,20262,NULL,NULL,NULL,13,NULL,NULL,NULL),(50010,'NCBI Gene Summary',NULL,20263,NULL,'This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]',NULL,NULL,NULL,NULL,NULL),(50011,'NCBI Gene PubMed Count',NULL,20263,NULL,NULL,NULL,17,NULL,NULL,NULL),(50012,'NCBI Gene Summary',NULL,20264,NULL,'This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014]',NULL,NULL,NULL,NULL,NULL),(50013,'NCBI Gene PubMed Count',NULL,20264,NULL,NULL,NULL,47,NULL,NULL,NULL),(50014,'NCBI Gene Summary',NULL,20265,NULL,'The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson\'s disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]',NULL,NULL,NULL,NULL,NULL),(50015,'NCBI Gene PubMed Count',NULL,20265,NULL,NULL,NULL,40,NULL,NULL,NULL),(50016,'NCBI Gene Summary',NULL,20266,NULL,'The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(50017,'NCBI Gene PubMed Count',NULL,20266,NULL,NULL,NULL,16,NULL,NULL,NULL),(50018,'NCBI Gene PubMed Count',NULL,20267,NULL,NULL,NULL,5,NULL,NULL,NULL),(50019,'NCBI Gene Summary',NULL,20268,NULL,'Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(50020,'NCBI Gene PubMed Count',NULL,20268,NULL,NULL,NULL,9,NULL,NULL,NULL),(50021,'NCBI Gene Summary',NULL,20269,NULL,'This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]',NULL,NULL,NULL,NULL,NULL),(50022,'NCBI Gene PubMed Count',NULL,20269,NULL,NULL,NULL,83,NULL,NULL,NULL),(50023,'NCBI Gene Summary',NULL,20270,NULL,'The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(50024,'NCBI Gene PubMed Count',NULL,20270,NULL,NULL,NULL,17,NULL,NULL,NULL),(50025,'NCBI Gene PubMed Count',NULL,20271,NULL,NULL,NULL,13,NULL,NULL,NULL),(50026,'NCBI Gene Summary',NULL,20272,NULL,'This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin. [provided by RefSeq, Nov 2008]',NULL,NULL,NULL,NULL,NULL),(50027,'NCBI Gene PubMed Count',NULL,20272,NULL,NULL,NULL,19,NULL,NULL,NULL),(50028,'NCBI Gene Summary',NULL,20273,NULL,'This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The protein undergoes an initial autocatalytic processing event and interacts with a neuroendocrine secretory protein in the ER, exits the ER and sorts to secretory granules, where it is cleaved and catalytically activated during intracellular transport. The encoded protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(50029,'NCBI Gene PubMed Count',NULL,20273,NULL,NULL,NULL,60,NULL,NULL,NULL),(50030,'NCBI Gene Summary',NULL,20274,NULL,'This gene encodes a transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. This protein is thought to play a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(50031,'NCBI Gene PubMed Count',NULL,20274,NULL,NULL,NULL,20,NULL,NULL,NULL),(50032,'NCBI Gene Summary',NULL,20275,NULL,'This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(50033,'NCBI Gene PubMed Count',NULL,20275,NULL,NULL,NULL,61,NULL,NULL,NULL),(50034,'NCBI Gene Summary',NULL,20276,NULL,'The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunoreceptor tyrosine-based activation motif (ITAM) and is thought to regulate the signaling and development of B-cells. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50035,'NCBI Gene PubMed Count',NULL,20276,NULL,NULL,NULL,10,NULL,NULL,NULL),(50036,'NCBI Gene Summary',NULL,20277,NULL,'This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene\'s expression is associated with allergic rhinitis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50037,'NCBI Gene PubMed Count',NULL,20277,NULL,NULL,NULL,330,NULL,NULL,NULL),(50038,'NCBI Gene PubMed Count',NULL,20278,NULL,NULL,NULL,29,NULL,NULL,NULL),(50039,'NCBI Gene Summary',NULL,20279,NULL,'This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2013]',NULL,NULL,NULL,NULL,NULL),(50040,'NCBI Gene PubMed Count',NULL,20279,NULL,NULL,NULL,3,NULL,NULL,NULL),(50041,'NCBI Gene Summary',NULL,20280,NULL,'This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]',NULL,NULL,NULL,NULL,NULL),(50042,'NCBI Gene PubMed Count',NULL,20280,NULL,NULL,NULL,6,NULL,NULL,NULL),(50043,'NCBI Gene PubMed Count',NULL,20281,NULL,NULL,NULL,2,NULL,NULL,NULL),(50044,'NCBI Gene Summary',NULL,20282,NULL,'The protein encoded by this gene is a natural cytotoxicity receptor (NCR) that may aid NK cells in the lysis of tumor cells. The encoded protein interacts with CD3-zeta (CD247), a T-cell receptor. A single nucleotide polymorphism in the 5\' untranslated region of this gene has been associated with mild malaria suceptibility. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(50045,'NCBI Gene PubMed Count',NULL,20282,NULL,NULL,NULL,86,NULL,NULL,NULL),(50046,'NCBI Gene Summary',NULL,20283,NULL,'This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009]',NULL,NULL,NULL,NULL,NULL),(50047,'NCBI Gene PubMed Count',NULL,20283,NULL,NULL,NULL,11,NULL,NULL,NULL),(50048,'NCBI Gene Summary',NULL,20284,NULL,'This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(50049,'NCBI Gene PubMed Count',NULL,20284,NULL,NULL,NULL,17,NULL,NULL,NULL),(50050,'NCBI Gene Summary',NULL,20285,NULL,'This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(50051,'NCBI Gene PubMed Count',NULL,20285,NULL,NULL,NULL,20,NULL,NULL,NULL),(50052,'NCBI Gene Summary',NULL,20286,NULL,'This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]',NULL,NULL,NULL,NULL,NULL),(50053,'NCBI Gene PubMed Count',NULL,20286,NULL,NULL,NULL,38,NULL,NULL,NULL),(50054,'NCBI Gene Summary',NULL,20287,NULL,'This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(50055,'NCBI Gene PubMed Count',NULL,20287,NULL,NULL,NULL,60,NULL,NULL,NULL),(50056,'NCBI Gene Summary',NULL,20288,NULL,'The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50057,'NCBI Gene PubMed Count',NULL,20288,NULL,NULL,NULL,27,NULL,NULL,NULL),(50058,'NCBI Gene Summary',NULL,20289,NULL,'The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50059,'NCBI Gene PubMed Count',NULL,20289,NULL,NULL,NULL,46,NULL,NULL,NULL),(50060,'NCBI Gene Summary',NULL,20290,NULL,'The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]',NULL,NULL,NULL,NULL,NULL),(50061,'NCBI Gene PubMed Count',NULL,20290,NULL,NULL,NULL,174,NULL,NULL,NULL),(50062,'NCBI Gene Summary',NULL,20291,NULL,'This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50063,'NCBI Gene PubMed Count',NULL,20291,NULL,NULL,NULL,51,NULL,NULL,NULL),(50064,'NCBI Gene Summary',NULL,20292,NULL,'The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50065,'NCBI Gene PubMed Count',NULL,20292,NULL,NULL,NULL,100,NULL,NULL,NULL),(50066,'NCBI Gene Summary',NULL,20293,NULL,'This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(50067,'NCBI Gene PubMed Count',NULL,20293,NULL,NULL,NULL,19,NULL,NULL,NULL),(50068,'NCBI Gene Summary',NULL,20294,NULL,'The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3\' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50069,'NCBI Gene PubMed Count',NULL,20294,NULL,NULL,NULL,25,NULL,NULL,NULL),(50070,'NCBI Gene Summary',NULL,20295,NULL,'The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50071,'NCBI Gene PubMed Count',NULL,20295,NULL,NULL,NULL,11,NULL,NULL,NULL),(50072,'NCBI Gene PubMed Count',NULL,20296,NULL,NULL,NULL,9,NULL,NULL,NULL),(50073,'NCBI Gene PubMed Count',NULL,20297,NULL,NULL,NULL,9,NULL,NULL,NULL),(50074,'NCBI Gene Summary',NULL,20298,NULL,'This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]',NULL,NULL,NULL,NULL,NULL),(50075,'NCBI Gene PubMed Count',NULL,20298,NULL,NULL,NULL,148,NULL,NULL,NULL),(50076,'NCBI Gene Summary',NULL,20299,NULL,'Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(50077,'NCBI Gene PubMed Count',NULL,20299,NULL,NULL,NULL,43,NULL,NULL,NULL),(50078,'NCBI Gene Summary',NULL,20300,NULL,'Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50079,'NCBI Gene PubMed Count',NULL,20300,NULL,NULL,NULL,25,NULL,NULL,NULL),(50080,'NCBI Gene Summary',NULL,20301,NULL,'This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(50081,'NCBI Gene PubMed Count',NULL,20301,NULL,NULL,NULL,56,NULL,NULL,NULL),(50082,'NCBI Gene PubMed Count',NULL,20302,NULL,NULL,NULL,2,NULL,NULL,NULL),(50083,'NCBI Gene Summary',NULL,20303,NULL,'The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50084,'NCBI Gene PubMed Count',NULL,20303,NULL,NULL,NULL,16,NULL,NULL,NULL),(50085,'NCBI Gene Summary',NULL,20304,NULL,'This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]',NULL,NULL,NULL,NULL,NULL),(50086,'NCBI Gene PubMed Count',NULL,20304,NULL,NULL,NULL,166,NULL,NULL,NULL),(50087,'NCBI Gene PubMed Count',NULL,20305,NULL,NULL,NULL,8,NULL,NULL,NULL),(50088,'NCBI Gene Summary',NULL,20306,NULL,'This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50089,'NCBI Gene PubMed Count',NULL,20306,NULL,NULL,NULL,51,NULL,NULL,NULL),(50090,'NCBI Gene PubMed Count',NULL,20307,NULL,NULL,NULL,22,NULL,NULL,NULL),(50091,'NCBI Gene Summary',NULL,20308,NULL,'The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]',NULL,NULL,NULL,NULL,NULL),(50092,'NCBI Gene PubMed Count',NULL,20308,NULL,NULL,NULL,43,NULL,NULL,NULL),(50093,'NCBI Gene Summary',NULL,20309,NULL,'This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50094,'NCBI Gene PubMed Count',NULL,20309,NULL,NULL,NULL,71,NULL,NULL,NULL),(50095,'NCBI Gene PubMed Count',NULL,20310,NULL,NULL,NULL,44,NULL,NULL,NULL),(50096,'NCBI Gene Summary',NULL,20311,NULL,'This gene is transcribed in antisense to the v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog gene (MYCN). It is thought to encode a small, novel protein that stabilizes MYCN, prevents apoptosis, and promotes cell proliferation. Transcripts at this locus may also act directly as functional RNAs to recruit transcriptional regulators to the promoter of MYCN and stimulate transcription of this oncogene. This gene therefore functions through both RNA and protein products. [provided by RefSeq, Aug 2016]',NULL,NULL,NULL,NULL,NULL),(50097,'NCBI Gene PubMed Count',NULL,20311,NULL,NULL,NULL,13,NULL,NULL,NULL),(50098,'NCBI Gene Summary',NULL,20312,NULL,'This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(50099,'NCBI Gene PubMed Count',NULL,20312,NULL,NULL,NULL,22,NULL,NULL,NULL),(50100,'NCBI Gene Summary',NULL,20313,NULL,'This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50101,'NCBI Gene PubMed Count',NULL,20313,NULL,NULL,NULL,30,NULL,NULL,NULL),(50102,'NCBI Gene PubMed Count',NULL,20314,NULL,NULL,NULL,23,NULL,NULL,NULL),(50103,'NCBI Gene Summary',NULL,20315,NULL,'Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010]',NULL,NULL,NULL,NULL,NULL),(50104,'NCBI Gene PubMed Count',NULL,20315,NULL,NULL,NULL,12,NULL,NULL,NULL),(50105,'NCBI Gene Summary',NULL,20316,NULL,'This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may play a role in neurite outgrowth. This gene may be involved in glioblastoma carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]',NULL,NULL,NULL,NULL,NULL),(50106,'NCBI Gene PubMed Count',NULL,20316,NULL,NULL,NULL,133,NULL,NULL,NULL),(50107,'NCBI Gene Summary',NULL,20317,NULL,'The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(50108,'NCBI Gene PubMed Count',NULL,20317,NULL,NULL,NULL,22,NULL,NULL,NULL),(50109,'NCBI Gene Summary',NULL,20318,NULL,'The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(50110,'NCBI Gene PubMed Count',NULL,20318,NULL,NULL,NULL,31,NULL,NULL,NULL),(50111,'NCBI Gene Summary',NULL,20319,NULL,'This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3\'-phosphoadenosine 5\'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]',NULL,NULL,NULL,NULL,NULL),(50112,'NCBI Gene PubMed Count',NULL,20319,NULL,NULL,NULL,27,NULL,NULL,NULL),(50113,'NCBI Gene Summary',NULL,20320,NULL,'This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]',NULL,NULL,NULL,NULL,NULL),(50114,'NCBI Gene PubMed Count',NULL,20320,NULL,NULL,NULL,14,NULL,NULL,NULL),(50115,'NCBI Gene Summary',NULL,20321,NULL,'This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]',NULL,NULL,NULL,NULL,NULL),(50116,'NCBI Gene PubMed Count',NULL,20321,NULL,NULL,NULL,61,NULL,NULL,NULL),(50117,'NCBI Gene Summary',NULL,20322,NULL,'This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]',NULL,NULL,NULL,NULL,NULL),(50118,'NCBI Gene PubMed Count',NULL,20322,NULL,NULL,NULL,15,NULL,NULL,NULL),(50119,'NCBI Gene Summary',NULL,20323,NULL,'The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane proteins. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50120,'NCBI Gene PubMed Count',NULL,20323,NULL,NULL,NULL,27,NULL,NULL,NULL),(50121,'NCBI Gene Summary',NULL,20324,NULL,'This gene encodes a member of the intermediate filament protein family and is expressed primarily in nerve cells. [provided by RefSeq, Sep 2011]',NULL,NULL,NULL,NULL,NULL),(50122,'NCBI Gene PubMed Count',NULL,20324,NULL,NULL,NULL,238,NULL,NULL,NULL),(50123,'NCBI Gene PubMed Count',NULL,20325,NULL,NULL,NULL,5,NULL,NULL,NULL),(50124,'NCBI Gene Summary',NULL,20326,NULL,'This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]',NULL,NULL,NULL,NULL,NULL),(50125,'NCBI Gene PubMed Count',NULL,20326,NULL,NULL,NULL,10,NULL,NULL,NULL),(50126,'NCBI Gene Summary',NULL,20327,NULL,'Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]',NULL,NULL,NULL,NULL,NULL),(50127,'NCBI Gene PubMed Count',NULL,20327,NULL,NULL,NULL,136,NULL,NULL,NULL),(50128,'NCBI Gene PubMed Count',NULL,20328,NULL,NULL,NULL,54,NULL,NULL,NULL),(50129,'NCBI Gene Summary',NULL,20329,NULL,'This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]',NULL,NULL,NULL,NULL,NULL),(50130,'NCBI Gene PubMed Count',NULL,20329,NULL,NULL,NULL,13,NULL,NULL,NULL),(50131,'NCBI Gene PubMed Count',NULL,20330,NULL,NULL,NULL,16,NULL,NULL,NULL),(50132,'NCBI Gene PubMed Count',NULL,20331,NULL,NULL,NULL,8,NULL,NULL,NULL),(50133,'NCBI Gene Summary',NULL,20332,NULL,'This gene encodes a member of a small family of secreted growth factors that binds heparin and responds to retinoic acid. The encoded protein promotes cell growth, migration, and angiogenesis, in particular during tumorigenesis. This gene has been targeted as a therapeutic for a variety of different disorders. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(50134,'NCBI Gene PubMed Count',NULL,20332,NULL,NULL,NULL,159,NULL,NULL,NULL),(50135,'NCBI Gene Summary',NULL,20333,NULL,'This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]',NULL,NULL,NULL,NULL,NULL),(50136,'NCBI Gene PubMed Count',NULL,20333,NULL,NULL,NULL,41,NULL,NULL,NULL),(50137,'NCBI Gene PubMed Count',NULL,20334,NULL,NULL,NULL,38,NULL,NULL,NULL),(50138,'NCBI Gene PubMed Count',NULL,20335,NULL,NULL,NULL,23,NULL,NULL,NULL),(50139,'NCBI Gene Summary',NULL,20336,NULL,'Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50140,'NCBI Gene PubMed Count',NULL,20336,NULL,NULL,NULL,3,NULL,NULL,NULL),(50141,'NCBI Gene Summary',NULL,20337,NULL,'The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]',NULL,NULL,NULL,NULL,NULL),(50142,'NCBI Gene PubMed Count',NULL,20337,NULL,NULL,NULL,23,NULL,NULL,NULL),(50143,'NCBI Gene Summary',NULL,20338,NULL,'This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]',NULL,NULL,NULL,NULL,NULL),(50144,'NCBI Gene PubMed Count',NULL,20338,NULL,NULL,NULL,26,NULL,NULL,NULL),(50145,'NCBI Gene Summary',NULL,20339,NULL,'This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. This protein is involved in early T cell activation. [provided by RefSeq, Dec 2016]',NULL,NULL,NULL,NULL,NULL),(50146,'NCBI Gene PubMed Count',NULL,20339,NULL,NULL,NULL,18,NULL,NULL,NULL),(50147,'NCBI Gene Summary',NULL,20340,NULL,'This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]',NULL,NULL,NULL,NULL,NULL),(50148,'NCBI Gene PubMed Count',NULL,20340,NULL,NULL,NULL,23,NULL,NULL,NULL),(50149,'NCBI Gene PubMed Count',NULL,20341,NULL,NULL,NULL,8,NULL,NULL,NULL),(50150,'NCBI Gene Summary',NULL,20342,NULL,'This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis. [provided by RefSeq, Nov 2009]',NULL,NULL,NULL,NULL,NULL),(50151,'NCBI Gene PubMed Count',NULL,20342,NULL,NULL,NULL,28,NULL,NULL,NULL),(50152,'NCBI Gene PubMed Count',NULL,20343,NULL,NULL,NULL,5,NULL,NULL,NULL),(50153,'NCBI Gene Summary',NULL,20344,NULL,'This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]',NULL,NULL,NULL,NULL,NULL),(50154,'NCBI Gene PubMed Count',NULL,20344,NULL,NULL,NULL,358,NULL,NULL,NULL),(50155,'NCBI Gene Summary',NULL,20345,NULL,'The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010]',NULL,NULL,NULL,NULL,NULL),(50156,'NCBI Gene PubMed Count',NULL,20345,NULL,NULL,NULL,21,NULL,NULL,NULL),(50157,'NCBI Gene Summary',NULL,20346,NULL,'This gene encodes a member of the globin superfamily and is expressed in skeletal and cardiac muscles. The encoded protein is a haemoprotein contributing to intracellular oxygen storage and transcellular facilitated diffusion of oxygen. At least three alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50158,'NCBI Gene PubMed Count',NULL,20346,NULL,NULL,NULL,70,NULL,NULL,NULL),(50159,'NCBI Gene Summary',NULL,20347,NULL,'This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]',NULL,NULL,NULL,NULL,NULL),(50160,'NCBI Gene PubMed Count',NULL,20347,NULL,NULL,NULL,23,NULL,NULL,NULL),(50161,'NCBI Gene Summary',NULL,20348,NULL,'This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]',NULL,NULL,NULL,NULL,NULL),(50162,'NCBI Gene PubMed Count',NULL,20348,NULL,NULL,NULL,36,NULL,NULL,NULL),(50163,'NCBI Gene Summary',NULL,20349,NULL,'Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50164,'NCBI Gene PubMed Count',NULL,20349,NULL,NULL,NULL,55,NULL,NULL,NULL),(50165,'NCBI Gene PubMed Count',NULL,20350,NULL,NULL,NULL,3,NULL,NULL,NULL),(50166,'NCBI Gene PubMed Count',NULL,20351,NULL,NULL,NULL,9,NULL,NULL,NULL),(50167,'NCBI Gene Summary',NULL,20352,NULL,'Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]',NULL,NULL,NULL,NULL,NULL),(50168,'NCBI Gene PubMed Count',NULL,20352,NULL,NULL,NULL,97,NULL,NULL,NULL),(50169,'NCBI Gene PubMed Count',NULL,20353,NULL,NULL,NULL,11,NULL,NULL,NULL),(50170,'NCBI Gene Summary',NULL,20354,NULL,'This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50171,'NCBI Gene PubMed Count',NULL,20354,NULL,NULL,NULL,140,NULL,NULL,NULL),(50172,'NCBI Gene Summary',NULL,20355,NULL,'This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing pf this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(50173,'NCBI Gene PubMed Count',NULL,20355,NULL,NULL,NULL,15,NULL,NULL,NULL),(50174,'NCBI Gene Summary',NULL,20356,NULL,'N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(50175,'NCBI Gene PubMed Count',NULL,20356,NULL,NULL,NULL,34,NULL,NULL,NULL),(50176,'NCBI Gene Summary',NULL,20357,NULL,'The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008]',NULL,NULL,NULL,NULL,NULL),(50177,'NCBI Gene PubMed Count',NULL,20357,NULL,NULL,NULL,1722,NULL,NULL,NULL),(50178,'NCBI Gene Summary',NULL,20358,NULL,'This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 2017]',NULL,NULL,NULL,NULL,NULL),(50179,'NCBI Gene PubMed Count',NULL,20358,NULL,NULL,NULL,80,NULL,NULL,NULL),(50180,'NCBI Gene Summary',NULL,20359,NULL,'This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50181,'NCBI Gene PubMed Count',NULL,20359,NULL,NULL,NULL,214,NULL,NULL,NULL),(50182,'NCBI Gene Summary',NULL,20360,NULL,'Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50183,'NCBI Gene PubMed Count',NULL,20360,NULL,NULL,NULL,49,NULL,NULL,NULL),(50184,'NCBI Gene Summary',NULL,20361,NULL,'The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50185,'NCBI Gene PubMed Count',NULL,20361,NULL,NULL,NULL,20,NULL,NULL,NULL),(50186,'NCBI Gene PubMed Count',NULL,20362,NULL,NULL,NULL,14,NULL,NULL,NULL),(50187,'NCBI Gene Summary',NULL,20363,NULL,'The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(50188,'NCBI Gene PubMed Count',NULL,20363,NULL,NULL,NULL,19,NULL,NULL,NULL),(50189,'NCBI Gene Summary',NULL,20364,NULL,'MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50190,'NCBI Gene PubMed Count',NULL,20364,NULL,NULL,NULL,36,NULL,NULL,NULL),(50191,'NCBI Gene Summary',NULL,20365,NULL,'MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(50192,'NCBI Gene PubMed Count',NULL,20365,NULL,NULL,NULL,16,NULL,NULL,NULL),(50193,'NCBI Gene Summary',NULL,20366,NULL,'This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]',NULL,NULL,NULL,NULL,NULL),(50194,'NCBI Gene PubMed Count',NULL,20366,NULL,NULL,NULL,16,NULL,NULL,NULL),(50195,'NCBI Gene Summary',NULL,20367,NULL,'The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50196,'NCBI Gene PubMed Count',NULL,20367,NULL,NULL,NULL,19,NULL,NULL,NULL),(50197,'NCBI Gene Summary',NULL,20368,NULL,'MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50198,'NCBI Gene PubMed Count',NULL,20368,NULL,NULL,NULL,207,NULL,NULL,NULL),(50199,'NCBI Gene Summary',NULL,20369,NULL,'The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50200,'NCBI Gene PubMed Count',NULL,20369,NULL,NULL,NULL,21,NULL,NULL,NULL),(50201,'NCBI Gene Summary',NULL,20370,NULL,'This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. [provided by RefSeq, Mar 2014]',NULL,NULL,NULL,NULL,NULL),(50202,'NCBI Gene PubMed Count',NULL,20370,NULL,NULL,NULL,11,NULL,NULL,NULL),(50203,'NCBI Gene PubMed Count',NULL,20371,NULL,NULL,NULL,17,NULL,NULL,NULL),(50204,'NCBI Gene Summary',NULL,20372,NULL,'Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(50205,'NCBI Gene PubMed Count',NULL,20372,NULL,NULL,NULL,42,NULL,NULL,NULL),(50206,'NCBI Gene PubMed Count',NULL,20373,NULL,NULL,NULL,2,NULL,NULL,NULL),(50207,'NCBI Gene PubMed Count',NULL,20374,NULL,NULL,NULL,33,NULL,NULL,NULL),(50208,'NCBI Gene Summary',NULL,20375,NULL,'Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]',NULL,NULL,NULL,NULL,NULL),(50209,'NCBI Gene PubMed Count',NULL,20375,NULL,NULL,NULL,9,NULL,NULL,NULL),(50210,'NCBI Gene Summary',NULL,20376,NULL,'This gene encodes a protein that interacts with the conserved protein complex termed cohesin. The cohesin complex holds together sister chromatids and facilitates accurate chromosome segregation during mitosis and meiosis. This protein is also a negative regulator of cell proliferation and may be a tumor-suppressor gene. [provided by RefSeq, Jul 2015]',NULL,NULL,NULL,NULL,NULL),(50211,'NCBI Gene PubMed Count',NULL,20376,NULL,NULL,NULL,40,NULL,NULL,NULL),(50212,'NCBI Gene Summary',NULL,20377,NULL,'The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 2016]',NULL,NULL,NULL,NULL,NULL),(50213,'NCBI Gene PubMed Count',NULL,20377,NULL,NULL,NULL,34,NULL,NULL,NULL),(50214,'NCBI Gene PubMed Count',NULL,20378,NULL,NULL,NULL,38,NULL,NULL,NULL),(50215,'NCBI Gene PubMed Count',NULL,20379,NULL,NULL,NULL,10,NULL,NULL,NULL),(50216,'NCBI Gene Summary',NULL,20380,NULL,'This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]',NULL,NULL,NULL,NULL,NULL),(50217,'NCBI Gene PubMed Count',NULL,20380,NULL,NULL,NULL,268,NULL,NULL,NULL),(50218,'NCBI Gene Summary',NULL,20381,NULL,'The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50219,'NCBI Gene PubMed Count',NULL,20381,NULL,NULL,NULL,43,NULL,NULL,NULL),(50220,'NCBI Gene Summary',NULL,20382,NULL,'The MYH16 gene, encoding a sarcomeric myosin heavy chain expressed in nonhuman primate masticatory muscles, is inactivated in humans. Stedman et al. (2004) [PubMed 15042088] hypothesized that the decrement in masticatory muscle size caused by the inactivation of MYH16 removed an evolutionary constraint on encephalization in early man.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(50221,'NCBI Gene PubMed Count',NULL,20382,NULL,NULL,NULL,5,NULL,NULL,NULL),(50222,'NCBI Gene PubMed Count',NULL,20383,NULL,NULL,NULL,17,NULL,NULL,NULL),(50223,'NCBI Gene PubMed Count',NULL,20384,NULL,NULL,NULL,6,NULL,NULL,NULL),(50224,'NCBI Gene Summary',NULL,20385,NULL,'This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50225,'NCBI Gene PubMed Count',NULL,20385,NULL,NULL,NULL,49,NULL,NULL,NULL),(50226,'NCBI Gene Summary',NULL,20386,NULL,'Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50227,'NCBI Gene PubMed Count',NULL,20386,NULL,NULL,NULL,24,NULL,NULL,NULL),(50228,'NCBI Gene Summary',NULL,20387,NULL,'This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3\' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50229,'NCBI Gene PubMed Count',NULL,20387,NULL,NULL,NULL,122,NULL,NULL,NULL),(50230,'NCBI Gene Summary',NULL,20388,NULL,'This gene encodes a member of the BTB/POZ and zinc finger domain-containing protein family that are involved in the control of gene expression. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 14. [provided by RefSeq, Jun 2010]',NULL,NULL,NULL,NULL,NULL),(50231,'NCBI Gene PubMed Count',NULL,20388,NULL,NULL,NULL,21,NULL,NULL,NULL),(50232,'NCBI Gene Summary',NULL,20389,NULL,'This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]',NULL,NULL,NULL,NULL,NULL),(50233,'NCBI Gene PubMed Count',NULL,20389,NULL,NULL,NULL,22,NULL,NULL,NULL),(50234,'NCBI Gene PubMed Count',NULL,20390,NULL,NULL,NULL,20,NULL,NULL,NULL),(50235,'NCBI Gene PubMed Count',NULL,20391,NULL,NULL,NULL,0,NULL,NULL,NULL),(50236,'NCBI Gene PubMed Count',NULL,20392,NULL,NULL,NULL,205,NULL,NULL,NULL),(50237,'NCBI Gene PubMed Count',NULL,20393,NULL,NULL,NULL,0,NULL,NULL,NULL),(50238,'NCBI Gene PubMed Count',NULL,20394,NULL,NULL,NULL,12,NULL,NULL,NULL),(50239,'NCBI Gene Summary',NULL,20395,NULL,'The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]',NULL,NULL,NULL,NULL,NULL),(50240,'NCBI Gene PubMed Count',NULL,20395,NULL,NULL,NULL,27,NULL,NULL,NULL),(50241,'NCBI Gene PubMed Count',NULL,20396,NULL,NULL,NULL,7,NULL,NULL,NULL),(50242,'NCBI Gene Summary',NULL,20397,NULL,'This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]',NULL,NULL,NULL,NULL,NULL),(50243,'NCBI Gene PubMed Count',NULL,20397,NULL,NULL,NULL,405,NULL,NULL,NULL),(50244,'NCBI Gene Summary',NULL,20398,NULL,'The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50245,'NCBI Gene PubMed Count',NULL,20398,NULL,NULL,NULL,47,NULL,NULL,NULL),(50246,'NCBI Gene Summary',NULL,20399,NULL,'The protein encoded by this gene has a nuclear and a cytoplasmic form and is a member of both the dynamin family and the family of large GTPases. The nuclear form is localized in a granular pattern in the heterochromatin region beneath the nuclear envelope. A nuclear localization signal (NLS) is present at the amino terminal end of the nuclear form but is lacking in the cytoplasmic form due to use of an alternate translation start codon. This protein is upregulated by interferon-alpha but does not contain the antiviral activity of a similar myxovirus resistance protein 1. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50247,'NCBI Gene PubMed Count',NULL,20399,NULL,NULL,NULL,47,NULL,NULL,NULL),(50248,'NCBI Gene Summary',NULL,20400,NULL,'The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3\' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50249,'NCBI Gene PubMed Count',NULL,20400,NULL,NULL,NULL,60,NULL,NULL,NULL),(50250,'NCBI Gene Summary',NULL,20401,NULL,'This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest that this protein may regulate cell cycle progression. A variant within this gene may be associated with susceptibility to schizophrenia and elevated expression of this gene has been observed in the frontal cortex of human schizophrenia patients. [provided by RefSeq, Mar 2017]',NULL,NULL,NULL,NULL,NULL),(50251,'NCBI Gene PubMed Count',NULL,20401,NULL,NULL,NULL,21,NULL,NULL,NULL),(50252,'NCBI Gene PubMed Count',NULL,20402,NULL,NULL,NULL,25,NULL,NULL,NULL),(50253,'NCBI Gene Summary',NULL,20403,NULL,'Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50254,'NCBI Gene PubMed Count',NULL,20403,NULL,NULL,NULL,30,NULL,NULL,NULL),(50255,'NCBI Gene Summary',NULL,20404,NULL,'This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]',NULL,NULL,NULL,NULL,NULL),(50256,'NCBI Gene PubMed Count',NULL,20404,NULL,NULL,NULL,103,NULL,NULL,NULL),(50257,'NCBI Gene Summary',NULL,20405,NULL,'This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be a housekeeping gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2008]',NULL,NULL,NULL,NULL,NULL),(50258,'NCBI Gene PubMed Count',NULL,20405,NULL,NULL,NULL,13,NULL,NULL,NULL),(50259,'NCBI Gene Summary',NULL,20406,NULL,'This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50260,'NCBI Gene PubMed Count',NULL,20406,NULL,NULL,NULL,27,NULL,NULL,NULL),(50261,'NCBI Gene PubMed Count',NULL,20407,NULL,NULL,NULL,15,NULL,NULL,NULL),(50262,'NCBI Gene Summary',NULL,20408,NULL,'This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50263,'NCBI Gene PubMed Count',NULL,20408,NULL,NULL,NULL,146,NULL,NULL,NULL),(50264,'NCBI Gene PubMed Count',NULL,20409,NULL,NULL,NULL,8,NULL,NULL,NULL),(50265,'NCBI Gene Summary',NULL,20410,NULL,'This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]',NULL,NULL,NULL,NULL,NULL),(50266,'NCBI Gene PubMed Count',NULL,20410,NULL,NULL,NULL,98,NULL,NULL,NULL),(50267,'NCBI Gene Summary',NULL,20411,NULL,'The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM, Mar 2008]',NULL,NULL,NULL,NULL,NULL),(50268,'NCBI Gene PubMed Count',NULL,20411,NULL,NULL,NULL,8,NULL,NULL,NULL),(50269,'NCBI Gene Summary',NULL,20412,NULL,'The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013]',NULL,NULL,NULL,NULL,NULL),(50270,'NCBI Gene PubMed Count',NULL,20412,NULL,NULL,NULL,11,NULL,NULL,NULL),(50271,'NCBI Gene Summary',NULL,16210,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50272,'NCBI Gene PubMed Count',NULL,16210,NULL,NULL,NULL,1240,NULL,NULL,NULL),(50273,'NCBI Gene Summary',NULL,15539,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50274,'NCBI Gene PubMed Count',NULL,15539,NULL,NULL,NULL,1240,NULL,NULL,NULL),(50275,'NCBI Gene Summary',NULL,15615,NULL,'HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]',NULL,NULL,NULL,NULL,NULL),(50276,'NCBI Gene PubMed Count',NULL,15615,NULL,NULL,NULL,1240,NULL,NULL,NULL),(70689,'Ab Count',NULL,1,NULL,NULL,NULL,362,NULL,NULL,NULL),(70690,'MAb Count',NULL,1,NULL,NULL,NULL,85,NULL,NULL,NULL),(70691,'Antibodypedia.com URL',NULL,1,NULL,'http://www.antibodypedia.com/gene/19668/CTH',NULL,NULL,NULL,NULL,NULL),(70692,'Ab Count',NULL,2,NULL,NULL,NULL,0,NULL,NULL,NULL),(70693,'MAb Count',NULL,2,NULL,NULL,NULL,0,NULL,NULL,NULL),(70694,'Antibodypedia.com URL',NULL,2,NULL,'http://www.antibodypedia.com/gene/77937/C7orf77',NULL,NULL,NULL,NULL,NULL),(70695,'Ab Count',NULL,3,NULL,NULL,NULL,62,NULL,NULL,NULL),(70696,'MAb Count',NULL,3,NULL,NULL,NULL,0,NULL,NULL,NULL),(70697,'Antibodypedia.com URL',NULL,3,NULL,'http://www.antibodypedia.com/gene/25036/C8orf34',NULL,NULL,NULL,NULL,NULL),(70698,'Ab Count',NULL,4,NULL,NULL,NULL,204,NULL,NULL,NULL),(70699,'MAb Count',NULL,4,NULL,NULL,NULL,38,NULL,NULL,NULL),(70700,'Antibodypedia.com URL',NULL,4,NULL,'http://www.antibodypedia.com/gene/32047/CGGBP1',NULL,NULL,NULL,NULL,NULL),(70701,'Ab Count',NULL,5,NULL,NULL,NULL,68,NULL,NULL,NULL),(70702,'MAb Count',NULL,5,NULL,NULL,NULL,3,NULL,NULL,NULL),(70703,'Antibodypedia.com URL',NULL,5,NULL,'http://www.antibodypedia.com/gene/13802/C8orf76',NULL,NULL,NULL,NULL,NULL),(70704,'Ab Count',NULL,6,NULL,NULL,NULL,163,NULL,NULL,NULL),(70705,'MAb Count',NULL,6,NULL,NULL,NULL,30,NULL,NULL,NULL),(70706,'Antibodypedia.com URL',NULL,6,NULL,'http://www.antibodypedia.com/gene/25129/CHD1',NULL,NULL,NULL,NULL,NULL),(70707,'Ab Count',NULL,7,NULL,NULL,NULL,193,NULL,NULL,NULL),(70708,'MAb Count',NULL,7,NULL,NULL,NULL,31,NULL,NULL,NULL),(70709,'Antibodypedia.com URL',NULL,7,NULL,'http://www.antibodypedia.com/gene/27406/CHERP',NULL,NULL,NULL,NULL,NULL),(70710,'Ab Count',NULL,8,NULL,NULL,NULL,198,NULL,NULL,NULL),(70711,'MAb Count',NULL,8,NULL,NULL,NULL,35,NULL,NULL,NULL),(70712,'Antibodypedia.com URL',NULL,8,NULL,'http://www.antibodypedia.com/gene/1886/CHP1',NULL,NULL,NULL,NULL,NULL),(70713,'Ab Count',NULL,9,NULL,NULL,NULL,23,NULL,NULL,NULL),(70714,'MAb Count',NULL,9,NULL,NULL,NULL,0,NULL,NULL,NULL),(70715,'Antibodypedia.com URL',NULL,9,NULL,'http://www.antibodypedia.com/gene/53152/CAMTA2',NULL,NULL,NULL,NULL,NULL),(70716,'Ab Count',NULL,10,NULL,NULL,NULL,23,NULL,NULL,NULL),(70717,'MAb Count',NULL,10,NULL,NULL,NULL,0,NULL,NULL,NULL),(70718,'Antibodypedia.com URL',NULL,10,NULL,'http://www.antibodypedia.com/gene/25531/CNBD1',NULL,NULL,NULL,NULL,NULL),(70719,'Ab Count',NULL,11,NULL,NULL,NULL,45,NULL,NULL,NULL),(70720,'MAb Count',NULL,11,NULL,NULL,NULL,0,NULL,NULL,NULL),(70721,'Antibodypedia.com URL',NULL,11,NULL,'http://www.antibodypedia.com/gene/51163/CNBD2',NULL,NULL,NULL,NULL,NULL),(70722,'Ab Count',NULL,12,NULL,NULL,NULL,78,NULL,NULL,NULL),(70723,'MAb Count',NULL,12,NULL,NULL,NULL,2,NULL,NULL,NULL),(70724,'Antibodypedia.com URL',NULL,12,NULL,'http://www.antibodypedia.com/gene/29691/COMTD1',NULL,NULL,NULL,NULL,NULL),(70725,'Ab Count',NULL,13,NULL,NULL,NULL,169,NULL,NULL,NULL),(70726,'MAb Count',NULL,13,NULL,NULL,NULL,42,NULL,NULL,NULL),(70727,'Antibodypedia.com URL',NULL,13,NULL,'http://www.antibodypedia.com/gene/33156/NCAPD3',NULL,NULL,NULL,NULL,NULL),(70728,'Ab Count',NULL,14,NULL,NULL,NULL,74,NULL,NULL,NULL),(70729,'MAb Count',NULL,14,NULL,NULL,NULL,0,NULL,NULL,NULL),(70730,'Antibodypedia.com URL',NULL,14,NULL,'http://www.antibodypedia.com/gene/44554/CMTR2',NULL,NULL,NULL,NULL,NULL),(70731,'Ab Count',NULL,15,NULL,NULL,NULL,157,NULL,NULL,NULL),(70732,'MAb Count',NULL,15,NULL,NULL,NULL,43,NULL,NULL,NULL),(70733,'Antibodypedia.com URL',NULL,15,NULL,'http://www.antibodypedia.com/gene/27763/CTNNBIP1',NULL,NULL,NULL,NULL,NULL),(70734,'Ab Count',NULL,16,NULL,NULL,NULL,363,NULL,NULL,NULL),(70735,'MAb Count',NULL,16,NULL,NULL,NULL,138,NULL,NULL,NULL),(70736,'Antibodypedia.com URL',NULL,16,NULL,'http://www.antibodypedia.com/gene/23332/CNDP2',NULL,NULL,NULL,NULL,NULL),(70737,'Ab Count',NULL,17,NULL,NULL,NULL,61,NULL,NULL,NULL),(70738,'MAb Count',NULL,17,NULL,NULL,NULL,2,NULL,NULL,NULL),(70739,'Antibodypedia.com URL',NULL,17,NULL,'http://www.antibodypedia.com/gene/23709/PDE6H',NULL,NULL,NULL,NULL,NULL),(70740,'Ab Count',NULL,18,NULL,NULL,NULL,139,NULL,NULL,NULL),(70741,'MAb Count',NULL,18,NULL,NULL,NULL,2,NULL,NULL,NULL),(70742,'Antibodypedia.com URL',NULL,18,NULL,'http://www.antibodypedia.com/gene/23976/CTDNEP1',NULL,NULL,NULL,NULL,NULL),(70743,'Ab Count',NULL,19,NULL,NULL,NULL,17,NULL,NULL,NULL),(70744,'MAb Count',NULL,19,NULL,NULL,NULL,0,NULL,NULL,NULL),(70745,'Antibodypedia.com URL',NULL,19,NULL,'http://www.antibodypedia.com/gene/62296/CNFN',NULL,NULL,NULL,NULL,NULL),(70746,'Ab Count',NULL,20,NULL,NULL,NULL,133,NULL,NULL,NULL),(70747,'MAb Count',NULL,20,NULL,NULL,NULL,16,NULL,NULL,NULL),(70748,'Antibodypedia.com URL',NULL,20,NULL,'http://www.antibodypedia.com/gene/30569/CNKSR1',NULL,NULL,NULL,NULL,NULL),(70749,'Ab Count',NULL,21,NULL,NULL,NULL,164,NULL,NULL,NULL),(70750,'MAb Count',NULL,21,NULL,NULL,NULL,56,NULL,NULL,NULL),(70751,'Antibodypedia.com URL',NULL,21,NULL,'http://www.antibodypedia.com/gene/33402/CNKSR3',NULL,NULL,NULL,NULL,NULL),(70752,'Ab Count',NULL,22,NULL,NULL,NULL,81,NULL,NULL,NULL),(70753,'MAb Count',NULL,22,NULL,NULL,NULL,2,NULL,NULL,NULL),(70754,'Antibodypedia.com URL',NULL,22,NULL,'http://www.antibodypedia.com/gene/151/CNIH1',NULL,NULL,NULL,NULL,NULL),(70755,'Ab Count',NULL,23,NULL,NULL,NULL,7,NULL,NULL,NULL),(70756,'MAb Count',NULL,23,NULL,NULL,NULL,0,NULL,NULL,NULL),(70757,'Antibodypedia.com URL',NULL,23,NULL,'http://www.antibodypedia.com/gene/49629/CNPY1',NULL,NULL,NULL,NULL,NULL),(70758,'Ab Count',NULL,24,NULL,NULL,NULL,97,NULL,NULL,NULL),(70759,'MAb Count',NULL,24,NULL,NULL,NULL,63,NULL,NULL,NULL),(70760,'Antibodypedia.com URL',NULL,24,NULL,'http://www.antibodypedia.com/gene/57116/PDE6G',NULL,NULL,NULL,NULL,NULL),(70761,'Ab Count',NULL,25,NULL,NULL,NULL,151,NULL,NULL,NULL),(70762,'MAb Count',NULL,25,NULL,NULL,NULL,27,NULL,NULL,NULL),(70763,'Antibodypedia.com URL',NULL,25,NULL,'http://www.antibodypedia.com/gene/1216/CNTN3',NULL,NULL,NULL,NULL,NULL),(70764,'Ab Count',NULL,26,NULL,NULL,NULL,16,NULL,NULL,NULL),(70765,'MAb Count',NULL,26,NULL,NULL,NULL,0,NULL,NULL,NULL),(70766,'Antibodypedia.com URL',NULL,26,NULL,'http://www.antibodypedia.com/gene/2026/CNST',NULL,NULL,NULL,NULL,NULL),(70767,'Ab Count',NULL,27,NULL,NULL,NULL,303,NULL,NULL,NULL),(70768,'MAb Count',NULL,27,NULL,NULL,NULL,51,NULL,NULL,NULL),(70769,'Antibodypedia.com URL',NULL,27,NULL,'http://www.antibodypedia.com/gene/25488/CNTFR',NULL,NULL,NULL,NULL,NULL),(70770,'Ab Count',NULL,28,NULL,NULL,NULL,84,NULL,NULL,NULL),(70771,'MAb Count',NULL,28,NULL,NULL,NULL,14,NULL,NULL,NULL),(70772,'Antibodypedia.com URL',NULL,28,NULL,'http://www.antibodypedia.com/gene/24606/CNTLN',NULL,NULL,NULL,NULL,NULL),(70773,'Ab Count',NULL,29,NULL,NULL,NULL,0,NULL,NULL,NULL),(70774,'MAb Count',NULL,29,NULL,NULL,NULL,0,NULL,NULL,NULL),(70775,'Antibodypedia.com URL',NULL,29,NULL,'http://www.antibodypedia.com/explore/Q8N8G6',NULL,NULL,NULL,NULL,NULL),(70776,'Ab Count',NULL,30,NULL,NULL,NULL,0,NULL,NULL,NULL),(70777,'MAb Count',NULL,30,NULL,NULL,NULL,0,NULL,NULL,NULL),(70778,'Antibodypedia.com URL',NULL,30,NULL,'http://www.antibodypedia.com/explore/Q8N910',NULL,NULL,NULL,NULL,NULL),(70779,'Ab Count',NULL,31,NULL,NULL,NULL,4,NULL,NULL,NULL),(70780,'MAb Count',NULL,31,NULL,NULL,NULL,0,NULL,NULL,NULL),(70781,'Antibodypedia.com URL',NULL,31,NULL,'http://www.antibodypedia.com/gene/73844/C15orf65',NULL,NULL,NULL,NULL,NULL),(70782,'Ab Count',NULL,32,NULL,NULL,NULL,274,NULL,NULL,NULL),(70783,'MAb Count',NULL,32,NULL,NULL,NULL,3,NULL,NULL,NULL),(70784,'Antibodypedia.com URL',NULL,32,NULL,'http://www.antibodypedia.com/gene/34379/COL4A3',NULL,NULL,NULL,NULL,NULL),(70785,'Ab Count',NULL,33,NULL,NULL,NULL,448,NULL,NULL,NULL),(70786,'MAb Count',NULL,33,NULL,NULL,NULL,139,NULL,NULL,NULL),(70787,'Antibodypedia.com URL',NULL,33,NULL,'http://www.antibodypedia.com/gene/7528/C2',NULL,NULL,NULL,NULL,NULL),(70788,'Ab Count',NULL,34,NULL,NULL,NULL,176,NULL,NULL,NULL),(70789,'MAb Count',NULL,34,NULL,NULL,NULL,11,NULL,NULL,NULL),(70790,'Antibodypedia.com URL',NULL,34,NULL,'http://www.antibodypedia.com/gene/32194/COL8A1',NULL,NULL,NULL,NULL,NULL),(70791,'Ab Count',NULL,35,NULL,NULL,NULL,696,NULL,NULL,NULL),(70792,'MAb Count',NULL,35,NULL,NULL,NULL,127,NULL,NULL,NULL),(70793,'Antibodypedia.com URL',NULL,35,NULL,'http://www.antibodypedia.com/gene/3392/COL3A1',NULL,NULL,NULL,NULL,NULL),(70794,'Ab Count',NULL,36,NULL,NULL,NULL,296,NULL,NULL,NULL),(70795,'MAb Count',NULL,36,NULL,NULL,NULL,154,NULL,NULL,NULL),(70796,'Antibodypedia.com URL',NULL,36,NULL,'http://www.antibodypedia.com/gene/35326/C4B',NULL,NULL,NULL,NULL,NULL),(70797,'Ab Count',NULL,37,NULL,NULL,NULL,405,NULL,NULL,NULL),(70798,'MAb Count',NULL,37,NULL,NULL,NULL,118,NULL,NULL,NULL),(70799,'Antibodypedia.com URL',NULL,37,NULL,'http://www.antibodypedia.com/gene/3446/COL5A1',NULL,NULL,NULL,NULL,NULL),(70800,'Ab Count',NULL,38,NULL,NULL,NULL,105,NULL,NULL,NULL),(70801,'MAb Count',NULL,38,NULL,NULL,NULL,21,NULL,NULL,NULL),(70802,'Antibodypedia.com URL',NULL,38,NULL,'http://www.antibodypedia.com/gene/25107/COL5A3',NULL,NULL,NULL,NULL,NULL),(70803,'Ab Count',NULL,39,NULL,NULL,NULL,0,NULL,NULL,NULL),(70804,'MAb Count',NULL,39,NULL,NULL,NULL,0,NULL,NULL,NULL),(70805,'Antibodypedia.com URL',NULL,39,NULL,'http://www.antibodypedia.com/explore/Q9H4G8',NULL,NULL,NULL,NULL,NULL),(70806,'Ab Count',NULL,40,NULL,NULL,NULL,478,NULL,NULL,NULL),(70807,'MAb Count',NULL,40,NULL,NULL,NULL,141,NULL,NULL,NULL),(70808,'Antibodypedia.com URL',NULL,40,NULL,'http://www.antibodypedia.com/gene/3685/C9',NULL,NULL,NULL,NULL,NULL),(70809,'Ab Count',NULL,41,NULL,NULL,NULL,73,NULL,NULL,NULL),(70810,'MAb Count',NULL,41,NULL,NULL,NULL,0,NULL,NULL,NULL),(70811,'Antibodypedia.com URL',NULL,41,NULL,'http://www.antibodypedia.com/gene/2314/COA1',NULL,NULL,NULL,NULL,NULL),(70812,'Ab Count',NULL,42,NULL,NULL,NULL,255,NULL,NULL,NULL),(70813,'MAb Count',NULL,42,NULL,NULL,NULL,28,NULL,NULL,NULL),(70814,'Antibodypedia.com URL',NULL,42,NULL,'http://www.antibodypedia.com/gene/709/C7',NULL,NULL,NULL,NULL,NULL),(70815,'Ab Count',NULL,43,NULL,NULL,NULL,49,NULL,NULL,NULL),(70816,'MAb Count',NULL,43,NULL,NULL,NULL,3,NULL,NULL,NULL),(70817,'Antibodypedia.com URL',NULL,43,NULL,'http://www.antibodypedia.com/gene/51931/DPH6',NULL,NULL,NULL,NULL,NULL),(70818,'Ab Count',NULL,44,NULL,NULL,NULL,98,NULL,NULL,NULL),(70819,'MAb Count',NULL,44,NULL,NULL,NULL,1,NULL,NULL,NULL),(70820,'Antibodypedia.com URL',NULL,44,NULL,'http://www.antibodypedia.com/gene/19075/DPH7',NULL,NULL,NULL,NULL,NULL),(70821,'Ab Count',NULL,45,NULL,NULL,NULL,276,NULL,NULL,NULL),(70822,'MAb Count',NULL,45,NULL,NULL,NULL,98,NULL,NULL,NULL),(70823,'Antibodypedia.com URL',NULL,45,NULL,'http://www.antibodypedia.com/gene/16973/COASY',NULL,NULL,NULL,NULL,NULL),(70824,'Ab Count',NULL,46,NULL,NULL,NULL,124,NULL,NULL,NULL),(70825,'MAb Count',NULL,46,NULL,NULL,NULL,3,NULL,NULL,NULL),(70826,'Antibodypedia.com URL',NULL,46,NULL,'http://www.antibodypedia.com/gene/35359/MT-CO3',NULL,NULL,NULL,NULL,NULL),(70827,'Ab Count',NULL,47,NULL,NULL,NULL,70,NULL,NULL,NULL),(70828,'MAb Count',NULL,47,NULL,NULL,NULL,0,NULL,NULL,NULL),(70829,'Antibodypedia.com URL',NULL,47,NULL,'http://www.antibodypedia.com/gene/1564/CMC2',NULL,NULL,NULL,NULL,NULL),(70830,'Ab Count',NULL,48,NULL,NULL,NULL,0,NULL,NULL,NULL),(70831,'MAb Count',NULL,48,NULL,NULL,NULL,0,NULL,NULL,NULL),(70832,'Antibodypedia.com URL',NULL,48,NULL,'http://www.antibodypedia.com/explore/O60397',NULL,NULL,NULL,NULL,NULL),(70833,'Ab Count',NULL,49,NULL,NULL,NULL,52,NULL,NULL,NULL),(70834,'MAb Count',NULL,49,NULL,NULL,NULL,0,NULL,NULL,NULL),(70835,'Antibodypedia.com URL',NULL,49,NULL,'http://www.antibodypedia.com/gene/54098/C16orf54',NULL,NULL,NULL,NULL,NULL),(70836,'Ab Count',NULL,50,NULL,NULL,NULL,5,NULL,NULL,NULL),(70837,'MAb Count',NULL,50,NULL,NULL,NULL,0,NULL,NULL,NULL),(70838,'Antibodypedia.com URL',NULL,50,NULL,'http://www.antibodypedia.com/gene/49357/C16orf86',NULL,NULL,NULL,NULL,NULL),(70839,'Ab Count',NULL,51,NULL,NULL,NULL,268,NULL,NULL,NULL),(70840,'MAb Count',NULL,51,NULL,NULL,NULL,57,NULL,NULL,NULL),(70841,'Antibodypedia.com URL',NULL,51,NULL,'http://www.antibodypedia.com/gene/4222/CYP26A1',NULL,NULL,NULL,NULL,NULL),(70842,'Ab Count',NULL,52,NULL,NULL,NULL,136,NULL,NULL,NULL),(70843,'MAb Count',NULL,52,NULL,NULL,NULL,11,NULL,NULL,NULL),(70844,'Antibodypedia.com URL',NULL,52,NULL,'http://www.antibodypedia.com/gene/2602/CYP7A1',NULL,NULL,NULL,NULL,NULL),(70845,'Ab Count',NULL,53,NULL,NULL,NULL,661,NULL,NULL,NULL),(70846,'MAb Count',NULL,53,NULL,NULL,NULL,310,NULL,NULL,NULL),(70847,'Antibodypedia.com URL',NULL,53,NULL,'http://www.antibodypedia.com/gene/4221/CYP1A2',NULL,NULL,NULL,NULL,NULL),(70848,'Ab Count',NULL,54,NULL,NULL,NULL,191,NULL,NULL,NULL),(70849,'MAb Count',NULL,54,NULL,NULL,NULL,75,NULL,NULL,NULL),(70850,'Antibodypedia.com URL',NULL,54,NULL,'http://www.antibodypedia.com/gene/14781/NUDT21',NULL,NULL,NULL,NULL,NULL),(70851,'Ab Count',NULL,55,NULL,NULL,NULL,233,NULL,NULL,NULL),(70852,'MAb Count',NULL,55,NULL,NULL,NULL,7,NULL,NULL,NULL),(70853,'Antibodypedia.com URL',NULL,55,NULL,'http://www.antibodypedia.com/gene/34289/CYP27A1',NULL,NULL,NULL,NULL,NULL),(70854,'Ab Count',NULL,56,NULL,NULL,NULL,377,NULL,NULL,NULL),(70855,'MAb Count',NULL,56,NULL,NULL,NULL,81,NULL,NULL,NULL),(70856,'Antibodypedia.com 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cystathionine|IDA; GO:0070814|P:hydrogen sulfide biosynthetic process|IDA; GO:1904831|P:positive regulation of aortic smooth muscle cell differentiation|IMP; GO:0051289|P:protein homotetramerization|IPI; GO:0018272|P:protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine|IDA; GO:0019346|P:transsulfuration|IDA',NULL,NULL,NULL,NULL,NULL),(134472,'Experimental MF/BP Leaf Term GOA',NULL,4,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134473,'Experimental MF/BP Leaf Term GOA',NULL,6,NULL,'GO:0043923|P:positive regulation by host of viral transcription|IMP',NULL,NULL,NULL,NULL,NULL),(134474,'Experimental MF/BP Leaf Term GOA',NULL,7,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0070886|P:positive regulation of calcineurin-NFAT signaling cascade|IMP',NULL,NULL,NULL,NULL,NULL),(134475,'Experimental MF/BP Leaf Term GOA',NULL,8,NULL,'GO:0070885|P:negative regulation of calcineurin-NFAT signaling cascade|IDA; GO:0042308|P:negative regulation of protein import into nucleus|IDA; GO:0032417|P:positive regulation of sodium:proton antiporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(134476,'Experimental MF/BP Leaf Term GOA',NULL,9,NULL,'GO:0042826|F:histone deacetylase binding|IDA; GO:0014898|P:cardiac muscle hypertrophy in response to stress|IDA',NULL,NULL,NULL,NULL,NULL),(134477,'Experimental MF/BP Leaf Term GOA',NULL,14,NULL,'GO:0004483|F:mRNA (nucleoside-2\'-O-)-methyltransferase activity|IDA; GO:0006370|P:7-methylguanosine mRNA capping|IDA; GO:0097310|P:cap2 mRNA methylation|IDA',NULL,NULL,NULL,NULL,NULL),(134478,'Experimental MF/BP Leaf Term GOA',NULL,15,NULL,'GO:0070016|F:armadillo repeat domain binding|IPI; GO:0008013|F:beta-catenin binding|IPI; GO:0045657|P:positive regulation of monocyte differentiation|IMP; GO:0002528|P:regulation of vascular permeability involved in acute inflammatory response|IMP',NULL,NULL,NULL,NULL,NULL),(134479,'Experimental MF/BP Leaf Term GOA',NULL,18,NULL,'GO:0010867|P:positive regulation of triglyceride biosynthetic process|IGI',NULL,NULL,NULL,NULL,NULL),(134480,'Experimental MF/BP Leaf Term GOA',NULL,27,NULL,'GO:0070120|P:ciliary neurotrophic factor-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134481,'Experimental MF/BP Leaf Term GOA',NULL,28,NULL,'GO:0010457|P:centriole-centriole cohesion|IMP',NULL,NULL,NULL,NULL,NULL),(134482,'Experimental MF/BP Leaf Term GOA',NULL,32,NULL,'GO:0072577|P:endothelial cell apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(134483,'Experimental MF/BP Leaf Term GOA',NULL,34,NULL,'GO:0035987|P:endodermal cell differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(134484,'Experimental MF/BP Leaf Term GOA',NULL,35,NULL,'GO:0048407|F:platelet-derived growth factor binding|IDA; GO:0030199|P:collagen fibril organization|IMP; GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:0043588|P:skin development|IMP',NULL,NULL,NULL,NULL,NULL),(134485,'Experimental MF/BP Leaf Term GOA',NULL,37,NULL,'GO:0008201|F:heparin binding|IDA; GO:0048407|F:platelet-derived growth factor binding|IDA; GO:0032964|P:collagen biosynthetic process|IMP; GO:0030199|P:collagen fibril organization|IMP; GO:0043588|P:skin development|IMP; GO:0035313|P:wound healing, spreading of epidermal cells|IMP',NULL,NULL,NULL,NULL,NULL),(134486,'Experimental MF/BP Leaf Term GOA',NULL,41,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP; GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134487,'Experimental MF/BP Leaf Term GOA',NULL,43,NULL,'GO:0017178|F:diphthine-ammonia ligase activity|EXP',NULL,NULL,NULL,NULL,NULL),(134488,'Experimental MF/BP Leaf Term GOA',NULL,44,NULL,'GO:0017183|P:peptidyl-diphthamide biosynthetic process from peptidyl-histidine|IMP',NULL,NULL,NULL,NULL,NULL),(134489,'Experimental MF/BP Leaf Term GOA',NULL,45,NULL,'GO:0004140|F:dephospho-CoA kinase activity|IDA; GO:0004595|F:pantetheine-phosphate adenylyltransferase activity|IDA; GO:0015937|P:coenzyme A biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134490,'Experimental MF/BP Leaf Term GOA',NULL,51,NULL,'GO:0008401|F:retinoic acid 4-hydroxylase activity|IDA; GO:0001972|F:retinoic acid binding|IDA; GO:0034653|P:retinoic acid catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(134491,'Experimental MF/BP Leaf Term GOA',NULL,52,NULL,'GO:0006699|P:bile acid biosynthetic process|IDA; GO:0071333|P:cellular response to glucose stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(134492,'Experimental MF/BP Leaf Term GOA',NULL,53,NULL,'GO:0034875|F:caffeine oxidase activity|IDA; GO:0020037|F:heme binding|IDA; GO:0071615|P:oxidative deethylation|IDA',NULL,NULL,NULL,NULL,NULL),(134493,'Experimental MF/BP Leaf Term GOA',NULL,54,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:1990120|P:messenger ribonucleoprotein complex assembly|IDA; GO:0110104|P:mRNA alternative polyadenylation|IMP; GO:0031439|P:positive regulation of mRNA cleavage|IDA; GO:1900365|P:positive regulation of mRNA polyadenylation|IDA; GO:0098789|P:pre-mRNA cleavage required for polyadenylation|IMP; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(134494,'Experimental MF/BP Leaf Term GOA',NULL,56,NULL,'GO:0020037|F:heme binding|IDA; GO:0042574|P:retinal metabolic process|IDA; GO:0042572|P:retinol metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(134495,'Experimental MF/BP Leaf Term GOA',NULL,58,NULL,'GO:0020037|F:heme binding|IDA; GO:0090350|P:negative regulation of cellular organofluorine metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(134496,'Experimental MF/BP Leaf Term GOA',NULL,63,NULL,'GO:0001540|F:amyloid-beta binding|IDA; GO:0042988|F:X11-like protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(134497,'Experimental MF/BP Leaf Term GOA',NULL,72,NULL,'GO:0090422|F:thiamine pyrophosphate transmembrane transporter activity|IMP; GO:0008292|P:acetylcholine biosynthetic process|IMP; GO:0015871|P:choline transport|IMP',NULL,NULL,NULL,NULL,NULL),(134498,'Experimental MF/BP Leaf Term GOA',NULL,75,NULL,'GO:1900264|P:positive regulation of DNA-directed DNA polymerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134499,'Experimental MF/BP Leaf Term GOA',NULL,78,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0051496|P:positive regulation of stress fiber assembly|IDA',NULL,NULL,NULL,NULL,NULL),(134500,'Experimental MF/BP Leaf Term GOA',NULL,94,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(134501,'Experimental MF/BP Leaf Term GOA',NULL,98,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0004634|F:phosphopyruvate hydratase activity|IMP; GO:0042803|F:protein homodimerization activity|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0061621|P:canonical glycolysis|IMP; GO:1903298|P:negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway|IDA; GO:2001171|P:positive regulation of ATP biosynthetic process|IDA; GO:0010756|P:positive regulation of plasminogen activation|IMP',NULL,NULL,NULL,NULL,NULL),(134502,'Experimental MF/BP Leaf Term GOA',NULL,109,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(134503,'Experimental MF/BP Leaf Term GOA',NULL,111,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0030593|P:neutrophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(134504,'Experimental MF/BP Leaf Term GOA',NULL,112,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(134505,'Experimental MF/BP Leaf Term GOA',NULL,115,NULL,'GO:0019959|F:interleukin-8 binding|IPI; GO:0004918|F:interleukin-8 receptor activity|IDA; GO:0038112|P:interleukin-8-mediated signaling pathway|IDA; GO:0030593|P:neutrophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(134506,'Experimental MF/BP Leaf Term GOA',NULL,117,NULL,'GO:0038147|F:C-X-C motif chemokine 12 receptor activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0038160|P:CXCL12-activated CXCR4 signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134507,'Experimental MF/BP Leaf Term GOA',NULL,120,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(134508,'Experimental MF/BP Leaf Term GOA',NULL,125,NULL,'GO:0034875|F:caffeine oxidase activity|IDA; GO:0101020|F:estrogen 16-alpha-hydroxylase activity|IDA; GO:0002933|P:lipid hydroxylation|IDA',NULL,NULL,NULL,NULL,NULL),(134509,'Experimental MF/BP Leaf Term GOA',NULL,126,NULL,'GO:0008405|F:arachidonic acid 11,12-epoxygenase activity|IDA; GO:0008404|F:arachidonic acid 14,15-epoxygenase activity|IDA; GO:0071614|F:linoleic acid epoxygenase activity|IDA; GO:0019373|P:epoxygenase P450 pathway|IDA; GO:0043651|P:linoleic acid metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(134510,'Experimental MF/BP Leaf Term GOA',NULL,130,NULL,'GO:1901874|P:negative regulation of post-translational protein modification|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(134511,'Experimental MF/BP Leaf Term GOA',NULL,131,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(134512,'Experimental MF/BP Leaf Term GOA',NULL,132,NULL,'GO:2000664|P:positive regulation of interleukin-5 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(134513,'Experimental MF/BP Leaf Term GOA',NULL,133,NULL,'GO:0051082|F:unfolded protein binding|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(134514,'Experimental MF/BP Leaf Term GOA',NULL,136,NULL,'GO:0000045|P:autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134515,'Experimental MF/BP Leaf Term GOA',NULL,138,NULL,'GO:0048487|F:beta-tubulin binding|IDA',NULL,NULL,NULL,NULL,NULL),(134516,'Experimental MF/BP Leaf Term GOA',NULL,143,NULL,'GO:0000338|P:protein deneddylation|IDA',NULL,NULL,NULL,NULL,NULL),(134517,'Experimental MF/BP Leaf Term GOA',NULL,144,NULL,'GO:0000338|P:protein deneddylation|IDA',NULL,NULL,NULL,NULL,NULL),(134518,'Experimental MF/BP Leaf Term GOA',NULL,145,NULL,'GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI; GO:0010792|P:DNA double-strand break processing involved in repair via single-strand annealing|IMP',NULL,NULL,NULL,NULL,NULL),(134519,'Experimental MF/BP Leaf Term GOA',NULL,146,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0045295|F:gamma-catenin binding|IPI; GO:0017166|F:vinculin binding|IPI; GO:0071681|P:cellular response to indole-3-methanol|IDA',NULL,NULL,NULL,NULL,NULL),(134520,'Experimental MF/BP Leaf Term GOA',NULL,149,NULL,'GO:0005112|F:Notch binding|IPI; GO:0031208|F:POZ domain binding|IDA; GO:0031145|P:anaphase-promoting complex-dependent catabolic process|IDA; GO:0048208|P:COPII vesicle coating|IMP; GO:0006888|P:ER to Golgi vesicle-mediated transport|IDA; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:0035024|P:negative regulation of Rho protein signal transduction|IMP; GO:0071630|P:nuclear protein quality control by the ubiquitin-proteasome system|IDA; GO:0031648|P:protein destabilization|IGI; GO:0043149|P:stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134521,'Experimental MF/BP Leaf Term GOA',NULL,153,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(134522,'Experimental MF/BP Leaf Term GOA',NULL,157,NULL,'GO:0031735|F:CCR10 chemokine receptor binding|IDA; GO:0008009|F:chemokine activity|IDA; GO:0048248|F:CXCR3 chemokine receptor binding|IPI; GO:0031724|F:CXCR5 chemokine receptor binding|IDA; GO:0017134|F:fibroblast growth factor binding|IDA; GO:0008201|F:heparin binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0035768|P:endothelial cell chemotaxis to fibroblast growth factor|IDA; GO:2000545|P:negative regulation of endothelial cell chemotaxis to fibroblast growth factor|IDA; GO:0010820|P:positive regulation of T cell chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(134523,'Experimental MF/BP Leaf Term GOA',NULL,158,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(134524,'Experimental MF/BP Leaf Term GOA',NULL,159,NULL,'GO:0010759|P:positive regulation of macrophage chemotaxis|IMP; GO:0090026|P:positive regulation of monocyte chemotaxis|IMP; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IMP',NULL,NULL,NULL,NULL,NULL),(134525,'Experimental MF/BP Leaf Term GOA',NULL,162,NULL,'GO:0020037|F:heme binding|IMP; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042554|P:superoxide anion generation|IDA',NULL,NULL,NULL,NULL,NULL),(134526,'Experimental MF/BP Leaf Term GOA',NULL,163,NULL,'GO:0000293|F:ferric-chelate reductase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134527,'Experimental MF/BP Leaf Term GOA',NULL,166,NULL,'GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(134528,'Experimental MF/BP Leaf Term GOA',NULL,170,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134529,'Experimental MF/BP Leaf Term GOA',NULL,174,NULL,'GO:0034454|P:microtubule anchoring at centrosome|IMP; GO:0097712|P:vesicle targeting, trans-Golgi to periciliary membrane compartment|IMP',NULL,NULL,NULL,NULL,NULL),(134530,'Experimental MF/BP Leaf Term GOA',NULL,187,NULL,'GO:0007288|P:sperm axoneme assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134531,'Experimental MF/BP Leaf Term GOA',NULL,188,NULL,'GO:0050650|P:chondroitin sulfate proteoglycan biosynthetic process|IDA; GO:0050651|P:dermatan sulfate proteoglycan biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134532,'Experimental MF/BP Leaf Term GOA',NULL,192,NULL,'GO:0051087|F:chaperone binding|IPI',NULL,NULL,NULL,NULL,NULL),(134533,'Experimental MF/BP Leaf Term GOA',NULL,193,NULL,'GO:0004148|F:dihydrolipoyl dehydrogenase activity|IDA; GO:0106077|P:histone succinylation|IDA',NULL,NULL,NULL,NULL,NULL),(134534,'Experimental MF/BP Leaf Term GOA',NULL,195,NULL,'GO:0007098|P:centrosome cycle|IDA',NULL,NULL,NULL,NULL,NULL),(134535,'Experimental MF/BP Leaf Term GOA',NULL,198,NULL,'GO:0031730|F:CCR5 chemokine receptor binding|IPI; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP',NULL,NULL,NULL,NULL,NULL),(134536,'Experimental MF/BP Leaf Term GOA',NULL,199,NULL,'GO:0030553|F:cGMP binding|IDA; GO:0005223|F:intracellular cGMP-activated cation channel activity|IDA; GO:0050908|P:detection of light stimulus involved in visual perception|IMP',NULL,NULL,NULL,NULL,NULL),(134537,'Experimental MF/BP Leaf Term GOA',NULL,200,NULL,'GO:0042605|F:peptide antigen binding|IDA; GO:0019886|P:antigen processing and presentation of exogenous peptide antigen via MHC class II|IMP',NULL,NULL,NULL,NULL,NULL),(134538,'Experimental MF/BP Leaf Term GOA',NULL,201,NULL,'GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IGI',NULL,NULL,NULL,NULL,NULL),(134539,'Experimental MF/BP Leaf Term GOA',NULL,206,NULL,'GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(134540,'Experimental MF/BP Leaf Term GOA',NULL,207,NULL,'GO:0004949|F:cannabinoid receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(134541,'Experimental MF/BP Leaf Term GOA',NULL,208,NULL,'GO:0021987|P:cerebral cortex development|IEP; GO:0021761|P:limbic system development|IEP; GO:0035176|P:social behavior|IMP; GO:0021756|P:striatum development|IEP; GO:0071109|P:superior temporal gyrus development|IEP; GO:0021794|P:thalamus development|IEP; GO:0042297|P:vocal learning|IMP',NULL,NULL,NULL,NULL,NULL),(134542,'Experimental MF/BP Leaf Term GOA',NULL,209,NULL,'GO:0004535|F:poly(A)-specific ribonuclease activity|IDA; GO:0043928|P:exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|IDA',NULL,NULL,NULL,NULL,NULL),(134543,'Experimental MF/BP Leaf Term GOA',NULL,210,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0033147|P:negative regulation of intracellular estrogen receptor signaling pathway|IMP; GO:2000327|P:positive regulation of nuclear receptor transcription coactivator activity|IDA',NULL,NULL,NULL,NULL,NULL),(134544,'Experimental MF/BP Leaf Term GOA',NULL,211,NULL,'GO:0007099|P:centriole replication|IMP',NULL,NULL,NULL,NULL,NULL),(134545,'Experimental MF/BP Leaf Term GOA',NULL,216,NULL,'GO:0031715|F:C5L2 anaphylatoxin chemotactic receptor binding|IDA; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IDA',NULL,NULL,NULL,NULL,NULL),(134546,'Experimental MF/BP Leaf Term GOA',NULL,218,NULL,'GO:0048407|F:platelet-derived growth factor binding|IDA; GO:0035987|P:endodermal cell differentiation|IEP; GO:0070208|P:protein heterotrimerization|IPI',NULL,NULL,NULL,NULL,NULL),(134547,'Experimental MF/BP Leaf Term GOA',NULL,223,NULL,'GO:0004164|F:diphthine synthase activity|EXP',NULL,NULL,NULL,NULL,NULL),(134548,'Experimental MF/BP Leaf Term GOA',NULL,224,NULL,'GO:0004582|F:dolichyl-phosphate beta-D-mannosyltransferase activity|IDA; GO:0004169|F:dolichyl-phosphate-mannose-protein mannosyltransferase activity|IDA; GO:0035269|P:protein O-linked mannosylation|IDA',NULL,NULL,NULL,NULL,NULL),(134549,'Experimental MF/BP Leaf Term GOA',NULL,228,NULL,'GO:0035925|F:mRNA 3\'-UTR AU-rich region binding|IDA',NULL,NULL,NULL,NULL,NULL),(134550,'Experimental MF/BP Leaf Term GOA',NULL,231,NULL,'GO:0030342|F:1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|IDA; GO:0001649|P:osteoblast differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(134551,'Experimental MF/BP Leaf Term GOA',NULL,232,NULL,'GO:0033147|P:negative regulation of intracellular estrogen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134552,'Experimental MF/BP Leaf Term GOA',NULL,244,NULL,'GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(134553,'Experimental MF/BP Leaf Term GOA',NULL,246,NULL,'GO:0050023|F:L-fuconate dehydratase activity|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(134554,'Experimental MF/BP Leaf Term GOA',NULL,249,NULL,'GO:0043874|F:acireductone synthase activity|IDA; GO:0019509|P:L-methionine salvage from methylthioadenosine|IDA',NULL,NULL,NULL,NULL,NULL),(134555,'Experimental MF/BP Leaf Term GOA',NULL,258,NULL,'GO:0019960|F:C-X3-C chemokine binding|IDA',NULL,NULL,NULL,NULL,NULL),(134556,'Experimental MF/BP Leaf Term GOA',NULL,264,NULL,'GO:0086076|F:gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling|IMP; GO:0086077|F:gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling|IDA; GO:0086078|F:gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling|IMP; GO:0055077|F:gap junction hemi-channel activity|IDA; GO:0086044|P:atrial cardiac muscle cell to AV node cell communication by electrical coupling|IMP; GO:0086053|P:AV node cell to bundle of His cell communication by electrical coupling|IMP; GO:0086054|P:bundle of His cell to Purkinje myocyte communication by electrical coupling|IMP; GO:0016264|P:gap junction assembly|IDA; GO:0003174|P:mitral valve development|IMP; GO:0003151|P:outflow tract morphogenesis|IMP; GO:0003193|P:pulmonary valve formation|IMP; GO:0060371|P:regulation of atrial cardiac muscle cell membrane depolarization|IMP; GO:0098905|P:regulation of bundle of His cell action potential|IMP; GO:0098906|P:regulation of Purkinje myocyte action potential|IMP',NULL,NULL,NULL,NULL,NULL),(134557,'Experimental MF/BP Leaf Term GOA',NULL,266,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0030165|F:PDZ domain binding|IPI; GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IDA; GO:0030593|P:neutrophil chemotaxis|IMP',NULL,NULL,NULL,NULL,NULL),(134558,'Experimental MF/BP Leaf Term GOA',NULL,269,NULL,'GO:0016264|P:gap junction assembly|IDA',NULL,NULL,NULL,NULL,NULL),(134559,'Experimental MF/BP Leaf Term GOA',NULL,271,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0048248|F:CXCR3 chemokine receptor binding|IDA; GO:0008201|F:heparin binding|IMP; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(134560,'Experimental MF/BP Leaf Term GOA',NULL,272,NULL,'GO:0071954|P:chemokine (C-C motif) ligand 11 production|IDA',NULL,NULL,NULL,NULL,NULL),(134561,'Experimental MF/BP Leaf Term GOA',NULL,274,NULL,'GO:0045322|F:unmethylated CpG binding|IDA',NULL,NULL,NULL,NULL,NULL),(134562,'Experimental MF/BP Leaf Term GOA',NULL,275,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0017124|F:SH3 domain binding|IPI; GO:0034137|P:positive regulation of toll-like receptor 2 signaling pathway|IDA; GO:0042554|P:superoxide anion generation|IMP',NULL,NULL,NULL,NULL,NULL),(134563,'Experimental MF/BP Leaf Term GOA',NULL,276,NULL,'GO:0020037|F:heme binding|IDA',NULL,NULL,NULL,NULL,NULL),(134564,'Experimental MF/BP Leaf Term GOA',NULL,277,NULL,'GO:0045155|F:electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|IDA',NULL,NULL,NULL,NULL,NULL),(134565,'Experimental MF/BP Leaf Term GOA',NULL,278,NULL,'GO:0061578|F:Lys63-specific deubiquitinase activity|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IDA; GO:1903753|P:negative regulation of p38MAPK cascade|IDA; GO:1990108|P:protein linear deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(134566,'Experimental MF/BP Leaf Term GOA',NULL,281,NULL,'GO:0036312|F:phosphatidylinositol 3-kinase regulatory subunit binding|IDA',NULL,NULL,NULL,NULL,NULL),(134567,'Experimental MF/BP Leaf Term GOA',NULL,282,NULL,'GO:1902387|F:ceramide 1-phosphate binding|IDA; GO:1902388|F:ceramide 1-phosphate transporter activity|IDA; GO:1902389|P:ceramide 1-phosphate transport|IDA; GO:0050713|P:negative regulation of interleukin-1 beta secretion|IMP; GO:1900226|P:negative regulation of NLRP3 inflammasome complex assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134568,'Experimental MF/BP Leaf Term GOA',NULL,284,NULL,'GO:0020037|F:heme binding|IDA',NULL,NULL,NULL,NULL,NULL),(134569,'Experimental MF/BP Leaf Term GOA',NULL,285,NULL,'GO:0008389|F:coumarin 7-hydroxylase activity|IDA; GO:0020037|F:heme binding|IDA',NULL,NULL,NULL,NULL,NULL),(134570,'Experimental MF/BP Leaf Term GOA',NULL,290,NULL,'GO:0075525|P:viral translational termination-reinitiation|IDA',NULL,NULL,NULL,NULL,NULL),(134571,'Experimental MF/BP Leaf Term GOA',NULL,292,NULL,'GO:0015279|F:store-operated calcium channel activity|IDA; GO:0002115|P:store-operated calcium entry|IDA',NULL,NULL,NULL,NULL,NULL),(134572,'Experimental MF/BP Leaf Term GOA',NULL,298,NULL,'GO:0001849|F:complement component C1q binding|IDA; GO:0030169|F:low-density lipoprotein particle binding|IDA; GO:0050750|F:low-density lipoprotein particle receptor binding|IPI; GO:0010745|P:negative regulation of macrophage derived foam cell differentiation|IDA; GO:0032930|P:positive regulation of superoxide anion generation|IDA',NULL,NULL,NULL,NULL,NULL),(134573,'Experimental MF/BP Leaf Term GOA',NULL,299,NULL,'GO:0060325|P:face morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(134574,'Experimental MF/BP Leaf Term GOA',NULL,300,NULL,'GO:0010457|P:centriole-centriole cohesion|IMP; GO:0007098|P:centrosome cycle|IDA',NULL,NULL,NULL,NULL,NULL),(134575,'Experimental MF/BP Leaf Term GOA',NULL,302,NULL,'GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(134576,'Experimental MF/BP Leaf Term GOA',NULL,303,NULL,'GO:0043522|F:leucine zipper domain binding|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134577,'Experimental MF/BP Leaf Term GOA',NULL,305,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0060997|P:dendritic spine morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(134578,'Experimental MF/BP Leaf Term GOA',NULL,328,NULL,'GO:1900016|P:negative regulation of cytokine production involved in inflammatory response|IMP; GO:0010936|P:negative regulation of macrophage cytokine production|IMP',NULL,NULL,NULL,NULL,NULL),(134579,'Experimental MF/BP Leaf Term GOA',NULL,329,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IDA',NULL,NULL,NULL,NULL,NULL),(134580,'Experimental MF/BP Leaf Term GOA',NULL,331,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0048248|F:CXCR3 chemokine receptor binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(134581,'Experimental MF/BP Leaf Term GOA',NULL,333,NULL,'GO:0019959|F:interleukin-8 binding|IPI; GO:0004918|F:interleukin-8 receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(134582,'Experimental MF/BP Leaf Term GOA',NULL,336,NULL,'GO:0030332|F:cyclin binding|IDA; GO:0004693|F:cyclin-dependent protein serine/threonine kinase activity|IDA; GO:0008353|F:RNA polymerase II CTD heptapeptide repeat kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134583,'Experimental MF/BP Leaf Term GOA',NULL,338,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0003336|P:corneocyte desquamation|IMP; GO:1905716|P:negative regulation of cornification|IMP; GO:0043589|P:skin morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(134584,'Experimental MF/BP Leaf Term GOA',NULL,339,NULL,'GO:0004605|F:phosphatidate cytidylyltransferase activity|IDA; GO:0016024|P:CDP-diacylglycerol biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134585,'Experimental MF/BP Leaf Term GOA',NULL,340,NULL,'GO:1903724|P:positive regulation of centriole elongation|IMP',NULL,NULL,NULL,NULL,NULL),(134586,'Experimental MF/BP Leaf Term GOA',NULL,341,NULL,'GO:0006707|P:cholesterol catabolic process|IDA; GO:0030157|P:pancreatic juice secretion|IDA',NULL,NULL,NULL,NULL,NULL),(134587,'Experimental MF/BP Leaf Term GOA',NULL,342,NULL,'GO:0051382|P:kinetochore assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134588,'Experimental MF/BP Leaf Term GOA',NULL,344,NULL,'GO:0042835|F:BRE binding|IDA',NULL,NULL,NULL,NULL,NULL),(134589,'Experimental MF/BP Leaf Term GOA',NULL,345,NULL,'GO:0043515|F:kinetochore binding|IDA',NULL,NULL,NULL,NULL,NULL),(134590,'Experimental MF/BP Leaf Term GOA',NULL,346,NULL,'GO:0031648|P:protein destabilization|IMP',NULL,NULL,NULL,NULL,NULL),(134591,'Experimental MF/BP Leaf Term GOA',NULL,347,NULL,'GO:0051382|P:kinetochore assembly|IDA',NULL,NULL,NULL,NULL,NULL),(134592,'Experimental MF/BP Leaf Term GOA',NULL,348,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(134593,'Experimental MF/BP Leaf Term GOA',NULL,356,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0031210|F:phosphatidylcholine binding|IDA; GO:0017129|F:triglyceride binding|IDA; GO:0042632|P:cholesterol homeostasis|IMP; GO:0034374|P:low-density lipoprotein particle remodeling|IDA; GO:0055091|P:phospholipid homeostasis|IDA; GO:0034197|P:triglyceride transport|IDA; GO:0034372|P:very-low-density lipoprotein particle remodeling|IDA',NULL,NULL,NULL,NULL,NULL),(134594,'Experimental MF/BP Leaf Term GOA',NULL,362,NULL,'GO:0008061|F:chitin binding|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(134595,'Experimental MF/BP Leaf Term GOA',NULL,363,NULL,'GO:1903852|P:positive regulation of cristae formation|IMP; GO:1904960|P:positive regulation of cytochrome-c oxidase activity|IMP; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(134596,'Experimental MF/BP Leaf Term GOA',NULL,365,NULL,'GO:0004483|F:mRNA (nucleoside-2\'-O-)-methyltransferase activity|IDA; GO:0006370|P:7-methylguanosine mRNA capping|IDA; GO:0097309|P:cap1 mRNA methylation|IDA',NULL,NULL,NULL,NULL,NULL),(134597,'Experimental MF/BP Leaf Term GOA',NULL,370,NULL,'GO:0030553|F:cGMP binding|IMP; GO:0005223|F:intracellular cGMP-activated cation channel activity|IMP',NULL,NULL,NULL,NULL,NULL),(134598,'Experimental MF/BP Leaf Term GOA',NULL,374,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(134599,'Experimental MF/BP Leaf Term GOA',NULL,376,NULL,'GO:0010606|P:positive regulation of cytoplasmic mRNA processing body assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134600,'Experimental MF/BP Leaf Term GOA',NULL,377,NULL,'GO:0070016|F:armadillo repeat domain binding|IPI; GO:0030331|F:estrogen receptor binding|IDA; GO:0035195|P:gene silencing by miRNA|IDA; GO:0033147|P:negative regulation of intracellular estrogen receptor signaling pathway|IDA; GO:0048387|P:negative regulation of retinoic acid receptor signaling pathway|IDA; GO:0010606|P:positive regulation of cytoplasmic mRNA processing body assembly|IDA; GO:0060213|P:positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|IDA',NULL,NULL,NULL,NULL,NULL),(134601,'Experimental MF/BP Leaf Term GOA',NULL,379,NULL,'GO:0001226|F:RNA polymerase II transcription corepressor binding|IDA; GO:0033147|P:negative regulation of intracellular estrogen receptor signaling pathway|IMP; GO:0010606|P:positive regulation of cytoplasmic mRNA processing body assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134602,'Experimental MF/BP Leaf Term GOA',NULL,384,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0005138|F:interleukin-6 receptor binding|IPI; GO:0070120|P:ciliary neurotrophic factor-mediated signaling pathway|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(134603,'Experimental MF/BP Leaf Term GOA',NULL,388,NULL,'GO:0106105|F:Ala-tRNA(Thr) hydrolase activity|IDA; GO:0106074|P:aminoacyl-tRNA metabolism involved in translational fidelity|IDA',NULL,NULL,NULL,NULL,NULL),(134604,'Experimental MF/BP Leaf Term GOA',NULL,393,NULL,'GO:0008386|F:cholesterol monooxygenase (side-chain-cleaving) activity|IDA; GO:0020037|F:heme binding|IDA',NULL,NULL,NULL,NULL,NULL),(134605,'Experimental MF/BP Leaf Term GOA',NULL,396,NULL,'GO:0042361|P:menaquinone catabolic process|IDA; GO:0042376|P:phylloquinone catabolic process|IDA; GO:0042377|P:vitamin K catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(134606,'Experimental MF/BP Leaf Term GOA',NULL,399,NULL,'GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(134607,'Experimental MF/BP Leaf Term GOA',NULL,401,NULL,'GO:0004198|F:calcium-dependent cysteine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134608,'Experimental MF/BP Leaf Term GOA',NULL,403,NULL,'GO:0018685|F:alkane 1-monooxygenase activity|IDA; GO:0052871|F:alpha-tocopherol omega-hydroxylase activity|IDA; GO:0052869|F:arachidonic acid omega-hydroxylase activity|IDA; GO:0050051|F:leukotriene-B4 20-monooxygenase activity|IDA; GO:0052872|F:tocotrienol omega-hydroxylase activity|IDA; GO:0019373|P:epoxygenase P450 pathway|IDA; GO:0036101|P:leukotriene B4 catabolic process|IDA; GO:0042361|P:menaquinone catabolic process|IDA; GO:0042376|P:phylloquinone catabolic process|IDA; GO:0003091|P:renal water homeostasis|IEP; GO:0042377|P:vitamin K catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(134609,'Experimental MF/BP Leaf Term GOA',NULL,404,NULL,'GO:0101020|F:estrogen 16-alpha-hydroxylase activity|IDA; GO:0002933|P:lipid hydroxylation|IDA',NULL,NULL,NULL,NULL,NULL),(134610,'Experimental MF/BP Leaf Term GOA',NULL,406,NULL,'GO:0043390|P:aflatoxin B1 metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(134611,'Experimental MF/BP Leaf Term GOA',NULL,408,NULL,'GO:0061158|P:3\'-UTR-mediated mRNA destabilization|IDA; GO:0060213|P:positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|IDA',NULL,NULL,NULL,NULL,NULL),(134612,'Experimental MF/BP Leaf Term GOA',NULL,410,NULL,'GO:0004095|F:carnitine O-palmitoyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134613,'Experimental MF/BP Leaf Term GOA',NULL,412,NULL,'GO:0070330|F:aromatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134614,'Experimental MF/BP Leaf Term GOA',NULL,413,NULL,'GO:0103002|F:16-hydroxypalmitate dehydrogenase activity|IDA; GO:0102116|F:laurate hydroxylase activity|IDA; GO:0002933|P:lipid hydroxylation|IDA',NULL,NULL,NULL,NULL,NULL),(134615,'Experimental MF/BP Leaf Term GOA',NULL,415,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0006977|P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|IMP',NULL,NULL,NULL,NULL,NULL),(134616,'Experimental MF/BP Leaf Term GOA',NULL,416,NULL,'GO:0060325|P:face morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(134617,'Experimental MF/BP Leaf Term GOA',NULL,418,NULL,'GO:0000082|P:G1/S transition of mitotic cell cycle|IMP',NULL,NULL,NULL,NULL,NULL),(134618,'Experimental MF/BP Leaf Term GOA',NULL,420,NULL,'GO:0050104|F:L-gulonate 3-dehydrogenase activity|IDA; GO:0070403|F:NAD+ binding|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(134619,'Experimental MF/BP Leaf Term GOA',NULL,422,NULL,'GO:0097011|P:cellular response to granulocyte macrophage colony-stimulating factor stimulus|IDA; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IDA; GO:0010744|P:positive regulation of macrophage derived foam cell differentiation|IDA; GO:0071803|P:positive regulation of podosome assembly|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(134620,'Experimental MF/BP Leaf Term GOA',NULL,425,NULL,'GO:0010839|P:negative regulation of keratinocyte proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(134621,'Experimental MF/BP Leaf Term GOA',NULL,426,NULL,'GO:0034236|F:protein kinase A catalytic subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(134622,'Experimental MF/BP Leaf Term GOA',NULL,439,NULL,'GO:0070914|P:UV-damage excision repair|IDA',NULL,NULL,NULL,NULL,NULL),(134623,'Experimental MF/BP Leaf Term GOA',NULL,468,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0048248|F:CXCR3 chemokine receptor binding|IDA; GO:0008201|F:heparin binding|IMP; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(134624,'Experimental MF/BP Leaf Term GOA',NULL,469,NULL,'GO:0008009|F:chemokine activity|IDA',NULL,NULL,NULL,NULL,NULL),(134625,'Experimental MF/BP Leaf Term GOA',NULL,471,NULL,'GO:0030165|F:PDZ domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(134626,'Experimental MF/BP Leaf Term GOA',NULL,472,NULL,'GO:0031726|F:CCR1 chemokine receptor binding|IPI; GO:0031730|F:CCR5 chemokine receptor binding|IPI; GO:0043922|P:negative regulation by host of viral transcription|IDA; GO:2000503|P:positive regulation of natural killer cell chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(134627,'Experimental MF/BP Leaf Term GOA',NULL,474,NULL,'GO:0042803|F:protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(134628,'Experimental MF/BP Leaf Term GOA',NULL,475,NULL,'GO:0005540|F:hyaluronic acid binding|IDA; GO:0044344|P:cellular response to fibroblast growth factor stimulus|IDA; GO:0030214|P:hyaluronan catabolic process|IDA; GO:0070487|P:monocyte aggregation|IMP; GO:1902166|P:negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IDA; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IMP; GO:1900625|P:positive regulation of monocyte aggregation|IMP',NULL,NULL,NULL,NULL,NULL),(134629,'Experimental MF/BP Leaf Term GOA',NULL,476,NULL,'GO:0032968|P:positive regulation of transcription elongation from RNA polymerase II promoter|IDA; GO:0031648|P:protein destabilization|IMP',NULL,NULL,NULL,NULL,NULL),(134630,'Experimental MF/BP Leaf Term GOA',NULL,490,NULL,'GO:0030742|F:GTP-dependent protein binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0003374|P:dynamin family protein polymerization involved in mitochondrial fission|IDA; GO:0048312|P:intracellular distribution of mitochondria|IMP; GO:0000266|P:mitochondrial fission|IDA; GO:0043653|P:mitochondrial fragmentation involved in apoptotic process|IMP; GO:0090149|P:mitochondrial membrane fission|IDA; GO:0070584|P:mitochondrion morphogenesis|IMP; GO:0070266|P:necroptotic process|IMP; GO:0016559|P:peroxisome fission|IDA; GO:0090141|P:positive regulation of mitochondrial fission|IMP; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IMP; GO:0051289|P:protein homotetramerization|IDA; GO:0001836|P:release of cytochrome c from mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(134631,'Experimental MF/BP Leaf Term GOA',NULL,495,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0010216|P:maintenance of DNA methylation|IDA; GO:1905460|P:negative regulation of vascular associated smooth muscle cell apoptotic process|IMP; GO:1905931|P:negative regulation of vascular smooth muscle cell differentiation involved in phenotypic switching|IMP; GO:0090309|P:positive regulation of methylation-dependent chromatin silencing|IMP; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(134632,'Experimental MF/BP Leaf Term GOA',NULL,497,NULL,'GO:0070694|F:deoxyribonucleoside 5\'-monophosphate N-glycosidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134633,'Experimental MF/BP Leaf Term GOA',NULL,500,NULL,'GO:0006309|P:apoptotic DNA fragmentation|IDA',NULL,NULL,NULL,NULL,NULL),(134634,'Experimental MF/BP Leaf Term GOA',NULL,501,NULL,'GO:0023026|F:MHC class II protein complex binding|IDA',NULL,NULL,NULL,NULL,NULL),(134635,'Experimental MF/BP Leaf Term GOA',NULL,505,NULL,'GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(134636,'Experimental MF/BP Leaf Term GOA',NULL,507,NULL,'GO:0090630|P:activation of GTPase activity|IDA; GO:0045200|P:establishment of neuroblast polarity|IMP; GO:1904754|P:positive regulation of vascular associated smooth muscle cell migration|IMP',NULL,NULL,NULL,NULL,NULL),(134637,'Experimental MF/BP Leaf Term GOA',NULL,509,NULL,'GO:0070886|P:positive regulation of calcineurin-NFAT signaling cascade|IMP',NULL,NULL,NULL,NULL,NULL),(134638,'Experimental MF/BP Leaf Term GOA',NULL,512,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134639,'Experimental MF/BP Leaf Term GOA',NULL,526,NULL,'GO:2001114|P:positive regulation of cellular response to hepatocyte growth factor stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(134640,'Experimental MF/BP Leaf Term GOA',NULL,527,NULL,'GO:0030553|F:cGMP binding|IDA; GO:0005223|F:intracellular cGMP-activated cation channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(134641,'Experimental MF/BP Leaf Term GOA',NULL,530,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IMP; GO:0070573|F:metallodipeptidase activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(134642,'Experimental MF/BP Leaf Term GOA',NULL,531,NULL,'GO:0007399|P:nervous system development|IMP',NULL,NULL,NULL,NULL,NULL),(134643,'Experimental MF/BP Leaf Term GOA',NULL,533,NULL,'GO:0004535|F:poly(A)-specific ribonuclease activity|IDA; GO:0043928|P:exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|IDA; GO:0060213|P:positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|IMP',NULL,NULL,NULL,NULL,NULL),(134644,'Experimental MF/BP Leaf Term GOA',NULL,539,NULL,'GO:0048407|F:platelet-derived growth factor binding|IDA; GO:0030199|P:collagen fibril organization|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(134645,'Experimental MF/BP Leaf Term GOA',NULL,540,NULL,'GO:0035987|P:endodermal cell differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(134646,'Experimental MF/BP Leaf Term GOA',NULL,542,NULL,'GO:0061511|P:centriole elongation|IDA; GO:0007099|P:centriole replication|IMP; GO:0046785|P:microtubule polymerization|IMP; GO:1903724|P:positive regulation of centriole elongation|IMP',NULL,NULL,NULL,NULL,NULL),(134647,'Experimental MF/BP Leaf Term GOA',NULL,543,NULL,'GO:0051382|P:kinetochore assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134648,'Experimental MF/BP Leaf Term GOA',NULL,545,NULL,'GO:1905515|P:non-motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134649,'Experimental MF/BP Leaf Term GOA',NULL,546,NULL,'GO:0034508|P:centromere complex assembly|IMP; GO:0031508|P:pericentric heterochromatin assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134650,'Experimental MF/BP Leaf Term GOA',NULL,549,NULL,'GO:0043395|F:heparan sulfate proteoglycan binding|IDA; GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(134651,'Experimental MF/BP Leaf Term GOA',NULL,551,NULL,'GO:0017134|F:fibroblast growth factor binding|IPI; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(134652,'Experimental MF/BP Leaf Term GOA',NULL,552,NULL,'GO:0010457|P:centriole-centriole cohesion|IMP; GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(134653,'Experimental MF/BP Leaf Term GOA',NULL,555,NULL,'GO:0018095|P:protein polyglutamylation|IMP',NULL,NULL,NULL,NULL,NULL),(134654,'Experimental MF/BP Leaf Term GOA',NULL,557,NULL,'GO:0061628|F:H3K27me3 modified histone binding|IDA; GO:0098532|P:histone H3-K27 trimethylation|IMP',NULL,NULL,NULL,NULL,NULL),(134655,'Experimental MF/BP Leaf Term GOA',NULL,558,NULL,'GO:0005524|F:ATP binding|IDA; GO:0008013|F:beta-catenin binding|IDA; GO:0007420|P:brain development|IMP; GO:0045945|P:positive regulation of transcription by RNA polymerase III|IMP',NULL,NULL,NULL,NULL,NULL),(134656,'Experimental MF/BP Leaf Term GOA',NULL,563,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(134657,'Experimental MF/BP Leaf Term GOA',NULL,568,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0030544|F:Hsp70 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(134658,'Experimental MF/BP Leaf Term GOA',NULL,569,NULL,'GO:0035240|F:dopamine binding|IMP; GO:0001588|F:dopamine neurotransmitter receptor activity, coupled via Gs|IDA; GO:0007190|P:activation of adenylate cyclase activity|IDA; GO:0007191|P:adenylate cyclase-activating dopamine receptor signaling pathway|IDA; GO:1903351|P:cellular response to dopamine|IMP; GO:0060158|P:phospholipase C-activating dopamine receptor signaling pathway|IDA; GO:0051482|P:positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134659,'Experimental MF/BP Leaf Term GOA',NULL,570,NULL,'GO:0001591|F:dopamine neurotransmitter receptor activity, coupled via Gi/Go|IDA; GO:0007195|P:adenylate cyclase-inhibiting dopamine receptor signaling pathway|IDA; GO:0050482|P:arachidonic acid secretion|IDA; GO:0060158|P:phospholipase C-activating dopamine receptor signaling pathway|IGI; GO:0051482|P:positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway|IDA; GO:1900168|P:positive regulation of glial cell-derived neurotrophic factor secretion|IDA',NULL,NULL,NULL,NULL,NULL),(134660,'Experimental MF/BP Leaf Term GOA',NULL,572,NULL,'GO:0035240|F:dopamine binding|IDA; GO:0001591|F:dopamine neurotransmitter receptor activity, coupled via Gi/Go|IDA; GO:0051379|F:epinephrine binding|IDA; GO:0051380|F:norepinephrine binding|IDA; GO:0017124|F:SH3 domain binding|IDA; GO:0007195|P:adenylate cyclase-inhibiting dopamine receptor signaling pathway|IDA; GO:0050482|P:arachidonic acid secretion|IDA; GO:0032417|P:positive regulation of sodium:proton antiporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(134661,'Experimental MF/BP Leaf Term GOA',NULL,573,NULL,'GO:0008396|F:oxysterol 7-alpha-hydroxylase activity|IDA; GO:0006699|P:bile acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134662,'Experimental MF/BP Leaf Term GOA',NULL,574,NULL,'GO:0034875|F:caffeine oxidase activity|IDA; GO:0101020|F:estrogen 16-alpha-hydroxylase activity|IDA; GO:0050649|F:testosterone 6-beta-hydroxylase activity|IMP; GO:0030343|F:vitamin D3 25-hydroxylase activity|IDA; GO:0002933|P:lipid hydroxylation|IDA',NULL,NULL,NULL,NULL,NULL),(134663,'Experimental MF/BP Leaf Term GOA',NULL,576,NULL,'GO:0001851|F:complement component C3b binding|IDA; GO:0004877|F:complement component C3b receptor activity|IDA; GO:0001855|F:complement component C4b binding|IDA; GO:0001861|F:complement component C4b receptor activity|IDA; GO:1900004|P:negative regulation of serine-type endopeptidase activity|IDA; GO:1900005|P:positive regulation of serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134664,'Experimental MF/BP Leaf Term GOA',NULL,577,NULL,'GO:0020037|F:heme binding|IDA',NULL,NULL,NULL,NULL,NULL),(134665,'Experimental MF/BP Leaf Term GOA',NULL,578,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0032967|P:positive regulation of collagen biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134666,'Experimental MF/BP Leaf Term GOA',NULL,584,NULL,'GO:0047710|F:bis(5\'-adenosyl)-triphosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134667,'Experimental MF/BP Leaf Term GOA',NULL,585,NULL,'GO:1901318|P:negative regulation of flagellated sperm motility|IMP',NULL,NULL,NULL,NULL,NULL),(134668,'Experimental MF/BP Leaf Term GOA',NULL,586,NULL,'GO:0006895|P:Golgi to endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(134669,'Experimental MF/BP Leaf Term GOA',NULL,588,NULL,'GO:0005005|F:transmembrane-ephrin receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(134670,'Experimental MF/BP Leaf Term GOA',NULL,589,NULL,'GO:0048013|P:ephrin receptor signaling pathway|IDA; GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(134671,'Experimental MF/BP Leaf Term GOA',NULL,604,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0045541|P:negative regulation of cholesterol biosynthetic process|IMP; GO:0032933|P:SREBP signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(134672,'Experimental MF/BP Leaf Term GOA',NULL,605,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0045541|P:negative regulation of cholesterol biosynthetic process|IMP; GO:0032933|P:SREBP signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(134673,'Experimental MF/BP Leaf Term GOA',NULL,608,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030263|P:apoptotic chromosome condensation|IMP',NULL,NULL,NULL,NULL,NULL),(134674,'Experimental MF/BP Leaf Term GOA',NULL,615,NULL,'GO:0042608|F:T cell receptor binding|IPI; GO:1900029|P:positive regulation of ruffle assembly|IGI',NULL,NULL,NULL,NULL,NULL),(134675,'Experimental MF/BP Leaf Term GOA',NULL,616,NULL,'GO:1900029|P:positive regulation of ruffle assembly|IGI',NULL,NULL,NULL,NULL,NULL),(134676,'Experimental MF/BP Leaf Term GOA',NULL,619,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0034421|P:post-translational protein acetylation|IMP',NULL,NULL,NULL,NULL,NULL),(134677,'Experimental MF/BP Leaf Term GOA',NULL,620,NULL,'GO:0034421|P:post-translational protein acetylation|IMP',NULL,NULL,NULL,NULL,NULL),(134678,'Experimental MF/BP Leaf Term GOA',NULL,625,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134679,'Experimental MF/BP Leaf Term GOA',NULL,626,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134680,'Experimental MF/BP Leaf Term GOA',NULL,627,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134681,'Experimental MF/BP Leaf Term GOA',NULL,633,NULL,'GO:0005544|F:calcium-dependent phospholipid binding|IDA; GO:0031210|F:phosphatidylcholine binding|IDA; GO:0008429|F:phosphatidylethanolamine binding|IDA',NULL,NULL,NULL,NULL,NULL),(134682,'Experimental MF/BP Leaf Term GOA',NULL,635,NULL,'GO:0030949|P:positive regulation of vascular endothelial growth factor receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134683,'Experimental MF/BP Leaf Term GOA',NULL,639,NULL,'GO:0033539|P:fatty acid beta-oxidation using acyl-CoA dehydrogenase|IDA',NULL,NULL,NULL,NULL,NULL),(134684,'Experimental MF/BP Leaf Term GOA',NULL,641,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0043422|F:protein kinase B binding|IPI',NULL,NULL,NULL,NULL,NULL),(134685,'Experimental MF/BP Leaf Term GOA',NULL,642,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134686,'Experimental MF/BP Leaf Term GOA',NULL,644,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134687,'Experimental MF/BP Leaf Term GOA',NULL,646,NULL,'GO:0008201|F:heparin binding|IMP',NULL,NULL,NULL,NULL,NULL),(134688,'Experimental MF/BP Leaf Term GOA',NULL,650,NULL,'GO:1900028|P:negative regulation of ruffle assembly|IMP; GO:0051496|P:positive regulation of stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134689,'Experimental MF/BP Leaf Term GOA',NULL,656,NULL,'GO:0071277|P:cellular response to calcium ion|IDA',NULL,NULL,NULL,NULL,NULL),(134690,'Experimental MF/BP Leaf Term GOA',NULL,658,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0008353|F:RNA polymerase II CTD heptapeptide repeat kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134691,'Experimental MF/BP Leaf Term GOA',NULL,662,NULL,'GO:0001205|F:distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0008327|F:methyl-CpG binding|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(134692,'Experimental MF/BP Leaf Term GOA',NULL,663,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0008353|F:RNA polymerase II CTD heptapeptide repeat kinase activity|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(134693,'Experimental MF/BP Leaf Term GOA',NULL,664,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IMP',NULL,NULL,NULL,NULL,NULL),(134694,'Experimental MF/BP Leaf Term GOA',NULL,665,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(134695,'Experimental MF/BP Leaf Term GOA',NULL,677,NULL,'GO:0061501|F:cyclic-GMP-AMP synthase activity|IDA; GO:0071360|P:cellular response to exogenous dsRNA|IDA; GO:0038001|P:paracrine signaling|IDA; GO:0010753|P:positive regulation of cGMP-mediated signaling|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IDA',NULL,NULL,NULL,NULL,NULL),(134696,'Experimental MF/BP Leaf Term GOA',NULL,678,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0019869|F:chloride channel inhibitor activity|IDA; GO:0005260|F:intracellularly ATP-gated chloride channel activity|IMP; GO:0030165|F:PDZ domain binding|IDA; GO:0106138|F:Sec61 translocon complex binding|IDA; GO:0015701|P:bicarbonate transport|IDA; GO:1904322|P:cellular response to forskolin|IDA; GO:1902476|P:chloride transmembrane transport|IDA; GO:1902161|P:positive regulation of cyclic nucleotide-gated ion channel activity|IMP; GO:0035774|P:positive regulation of insulin secretion involved in cellular response to glucose stimulus|IMP; GO:1902943|P:positive regulation of voltage-gated chloride channel activity|IDA; GO:0035377|P:transepithelial water transport|IMP',NULL,NULL,NULL,NULL,NULL),(134697,'Experimental MF/BP Leaf Term GOA',NULL,682,NULL,'GO:0001849|F:complement component C1q binding|IDA',NULL,NULL,NULL,NULL,NULL),(134698,'Experimental MF/BP Leaf Term GOA',NULL,685,NULL,'GO:0030020|F:extracellular matrix structural constituent conferring tensile strength|IMP; GO:0048407|F:platelet-derived growth factor binding|IDA; GO:0007420|P:brain development|IMP; GO:0001569|P:branching involved in blood vessel morphogenesis|IMP; GO:0061304|P:retinal blood vessel morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(134699,'Experimental MF/BP Leaf Term GOA',NULL,686,NULL,'GO:0070208|P:protein heterotrimerization|IPI',NULL,NULL,NULL,NULL,NULL),(134700,'Experimental MF/BP Leaf Term GOA',NULL,687,NULL,'GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134701,'Experimental MF/BP Leaf Term GOA',NULL,688,NULL,'GO:0035987|P:endodermal cell differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(134702,'Experimental MF/BP Leaf Term GOA',NULL,689,NULL,'GO:0006297|P:nucleotide-excision repair, DNA gap filling|IMP',NULL,NULL,NULL,NULL,NULL),(134703,'Experimental MF/BP Leaf Term GOA',NULL,691,NULL,'GO:0003887|F:DNA-directed DNA polymerase activity|IMP; GO:0006287|P:base-excision repair, gap-filling|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IMP; GO:0006297|P:nucleotide-excision repair, DNA gap filling|IMP',NULL,NULL,NULL,NULL,NULL),(134704,'Experimental MF/BP Leaf Term GOA',NULL,695,NULL,'GO:0008239|F:dipeptidyl-peptidase activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(134705,'Experimental MF/BP Leaf Term GOA',NULL,696,NULL,'GO:0008239|F:dipeptidyl-peptidase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0004252|F:serine-type endopeptidase activity|EXP; GO:0001618|F:virus receptor activity|IDA; GO:0010716|P:negative regulation of extracellular matrix disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(134706,'Experimental MF/BP Leaf Term GOA',NULL,706,NULL,'GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134707,'Experimental MF/BP Leaf Term GOA',NULL,710,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(134708,'Experimental MF/BP Leaf Term GOA',NULL,712,NULL,'GO:0050681|F:androgen receptor binding|IPI; GO:0008013|F:beta-catenin binding|IPI; GO:0140068|F:histone crotonyltransferase activity|IDA; GO:0004468|F:lysine N-acetyltransferase activity, acting on acetyl phosphate as donor|IDA; GO:0008022|F:protein C-terminus binding|IDA; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0097677|F:STAT family protein binding|IPI; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IDA; GO:0010742|P:macrophage derived foam cell differentiation|IDA; GO:0140067|P:peptidyl-lysine butyrylation|IDA; GO:0140066|P:peptidyl-lysine crotonylation|IDA; GO:0061921|P:peptidyl-lysine propionylation|IDA; GO:0043923|P:positive regulation by host of viral transcription|IDA; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IMP; GO:0031648|P:protein destabilization|IMP',NULL,NULL,NULL,NULL,NULL),(134709,'Experimental MF/BP Leaf Term GOA',NULL,714,NULL,'GO:2001069|F:glycogen binding|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(134710,'Experimental MF/BP Leaf Term GOA',NULL,717,NULL,'GO:0090630|P:activation of GTPase activity|IMP; GO:0048013|P:ephrin receptor signaling pathway|IDA; GO:0051898|P:negative regulation of protein kinase B signaling|IDA; GO:1903348|P:positive regulation of bicellular tight junction assembly|IMP; GO:0043491|P:protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(134711,'Experimental MF/BP Leaf Term GOA',NULL,721,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:1905765|P:negative regulation of protection from non-homologous end joining at telomere|IMP; GO:0006295|P:nucleotide-excision repair, DNA incision, 3\'-to lesion|IMP; GO:0006296|P:nucleotide-excision repair, DNA incision, 5\'-to lesion|IMP; GO:0061819|P:telomeric DNA-containing double minutes formation|IMP',NULL,NULL,NULL,NULL,NULL),(134712,'Experimental MF/BP Leaf Term GOA',NULL,722,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0006283|P:transcription-coupled nucleotide-excision repair|IDA; GO:0009650|P:UV protection|IGI',NULL,NULL,NULL,NULL,NULL),(134713,'Experimental MF/BP Leaf Term GOA',NULL,723,NULL,'GO:0000405|F:bubble DNA binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0006295|P:nucleotide-excision repair, DNA incision, 3\'-to lesion|IDA; GO:0006283|P:transcription-coupled nucleotide-excision repair|IMP; GO:0009650|P:UV protection|IGI',NULL,NULL,NULL,NULL,NULL),(134714,'Experimental MF/BP Leaf Term GOA',NULL,724,NULL,'GO:0005524|F:ATP binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0006283|P:transcription-coupled nucleotide-excision repair|IMP',NULL,NULL,NULL,NULL,NULL),(134715,'Experimental MF/BP Leaf Term GOA',NULL,725,NULL,'GO:0051865|P:protein autoubiquitination|IDA; GO:0006283|P:transcription-coupled nucleotide-excision repair|IDA',NULL,NULL,NULL,NULL,NULL),(134716,'Experimental MF/BP Leaf Term GOA',NULL,731,NULL,'GO:0000250|F:lanosterol synthase activity|IMP',NULL,NULL,NULL,NULL,NULL),(134717,'Experimental MF/BP Leaf Term GOA',NULL,732,NULL,'GO:0006888|P:ER to Golgi vesicle-mediated transport|IDA',NULL,NULL,NULL,NULL,NULL),(134718,'Experimental MF/BP Leaf Term GOA',NULL,735,NULL,'GO:0043531|F:ADP binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0030544|F:Hsp70 protein binding|IPI; GO:0051879|F:Hsp90 protein binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0005161|F:platelet-derived growth factor receptor binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0007257|P:activation of JUN kinase activity|IDA; GO:0071333|P:cellular response to glucose stimulus|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IDA; GO:0036498|P:IRE1-mediated unfolded protein response|IDA; GO:0070054|P:mRNA splicing, via endonucleolytic cleavage and ligation|IDA; GO:1990579|P:peptidyl-serine trans-autophosphorylation|IMP; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(134719,'Experimental MF/BP Leaf Term GOA',NULL,736,NULL,'GO:0001618|F:virus receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(134720,'Experimental MF/BP Leaf Term GOA',NULL,739,NULL,'GO:0051085|P:chaperone cofactor-dependent protein refolding|IDA',NULL,NULL,NULL,NULL,NULL),(134721,'Experimental MF/BP Leaf Term GOA',NULL,750,NULL,'GO:0034260|P:negative regulation of GTPase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134722,'Experimental MF/BP Leaf Term GOA',NULL,751,NULL,'GO:0070840|F:dynein complex binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0051661|P:maintenance of centrosome location|IMP; GO:1905832|P:positive regulation of spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134723,'Experimental MF/BP Leaf Term GOA',NULL,755,NULL,'GO:0039536|P:negative regulation of RIG-I signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(134724,'Experimental MF/BP Leaf Term GOA',NULL,759,NULL,'GO:0007175|P:negative regulation of epidermal growth factor-activated receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(134725,'Experimental MF/BP Leaf Term GOA',NULL,760,NULL,'GO:0004602|F:glutathione peroxidase activity|IDA; GO:0017124|F:SH3 domain binding|IPI; GO:0045454|P:cell redox homeostasis|IDA; GO:0060047|P:heart contraction|IMP; GO:0090201|P:negative regulation of release of cytochrome c from mitochondria|IMP; GO:0009650|P:UV protection|IMP',NULL,NULL,NULL,NULL,NULL),(134726,'Experimental MF/BP Leaf Term GOA',NULL,762,NULL,'GO:0004602|F:glutathione peroxidase activity|IDA; GO:0008430|F:selenium binding|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(134727,'Experimental MF/BP Leaf Term GOA',NULL,764,NULL,'GO:0004096|F:catalase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134728,'Experimental MF/BP Leaf Term GOA',NULL,765,NULL,'GO:0005171|F:hepatocyte growth factor receptor binding|IPI; GO:1902204|P:positive regulation of hepatocyte growth factor receptor signaling pathway|IDA; GO:0002040|P:sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(134729,'Experimental MF/BP Leaf Term GOA',NULL,767,NULL,'GO:0051117|F:ATPase binding|IDA; GO:0008013|F:beta-catenin binding|IPI; GO:0030331|F:estrogen receptor binding|IPI; GO:0034056|F:estrogen response element binding|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0038052|F:RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding|IDA; GO:0017025|F:TBP-class protein binding|IPI; GO:0001093|F:TFIIB-class transcription factor binding|IPI; GO:0071392|P:cellular response to estradiol stimulus|IDA; GO:0030520|P:intracellular estrogen receptor signaling pathway|IDA; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IDA; GO:0051000|P:positive regulation of nitric-oxide synthase activity|IDA; GO:0045899|P:positive regulation of RNA polymerase II transcriptional preinitiation complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(134730,'Experimental MF/BP Leaf Term GOA',NULL,773,NULL,'GO:0004252|F:serine-type endopeptidase activity|IMP',NULL,NULL,NULL,NULL,NULL),(134731,'Experimental MF/BP Leaf Term GOA',NULL,774,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(134732,'Experimental MF/BP Leaf Term GOA',NULL,778,NULL,'GO:0043539|F:protein serine/threonine kinase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(134733,'Experimental MF/BP Leaf Term GOA',NULL,779,NULL,'GO:0042803|F:protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(134734,'Experimental MF/BP Leaf Term GOA',NULL,781,NULL,'GO:0046875|F:ephrin receptor binding|IPI; GO:0043560|F:insulin receptor substrate binding|IPI; GO:0005168|F:neurotrophin TRKA receptor binding|IPI; GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0017124|F:SH3 domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(134735,'Experimental MF/BP Leaf Term GOA',NULL,783,NULL,'GO:0033539|P:fatty acid beta-oxidation using acyl-CoA dehydrogenase|IDA',NULL,NULL,NULL,NULL,NULL),(134736,'Experimental MF/BP Leaf Term GOA',NULL,784,NULL,'GO:0008198|F:ferrous iron binding|IDA; GO:0032364|P:oxygen homeostasis|IDA; GO:0018401|P:peptidyl-proline hydroxylation to 4-hydroxy-L-proline|IDA',NULL,NULL,NULL,NULL,NULL),(134737,'Experimental MF/BP Leaf Term GOA',NULL,785,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IDA; GO:0045741|P:positive regulation of epidermal growth factor-activated receptor activity|IDA; GO:1900127|P:positive regulation of hyaluronan biosynthetic process|IDA; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(134738,'Experimental MF/BP Leaf Term GOA',NULL,787,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134739,'Experimental MF/BP Leaf Term GOA',NULL,789,NULL,'GO:0009922|F:fatty acid elongase activity|IDA; GO:0034625|P:fatty acid elongation, monounsaturated fatty acid|IDA; GO:0034626|P:fatty acid elongation, polyunsaturated fatty acid|IDA; GO:0042761|P:very long-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134740,'Experimental MF/BP Leaf Term GOA',NULL,793,NULL,'GO:0097161|F:DH domain binding|IDA; GO:0042731|F:PH domain binding|IPI; GO:0048013|P:ephrin receptor signaling pathway|IGI; GO:1902004|P:positive regulation of amyloid-beta formation|IGI; GO:1902961|P:positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process|IGI; GO:2001108|P:positive regulation of Rho guanyl-nucleotide exchange factor activity|IDA; GO:0050821|P:protein stabilization|IGI',NULL,NULL,NULL,NULL,NULL),(134741,'Experimental MF/BP Leaf Term GOA',NULL,794,NULL,'GO:0035035|F:histone acetyltransferase binding|IPI; GO:0046982|F:protein heterodimerization activity|IDA; GO:0071456|P:cellular response to hypoxia|IDA',NULL,NULL,NULL,NULL,NULL),(134742,'Experimental MF/BP Leaf Term GOA',NULL,796,NULL,'GO:0005005|F:transmembrane-ephrin receptor activity|IDA; GO:0048013|P:ephrin receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134743,'Experimental MF/BP Leaf Term GOA',NULL,797,NULL,'GO:0043024|F:ribosomal small subunit binding|IDA; GO:0000028|P:ribosomal small subunit assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134744,'Experimental MF/BP Leaf Term GOA',NULL,798,NULL,'GO:0002042|P:cell migration involved in sprouting angiogenesis|IDA; GO:0048013|P:ephrin receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134745,'Experimental MF/BP Leaf Term GOA',NULL,800,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0007595|P:lactation|IMP; GO:0043653|P:mitochondrial fragmentation involved in apoptotic process|IMP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(134746,'Experimental MF/BP Leaf Term GOA',NULL,801,NULL,'GO:0071356|P:cellular response to tumor necrosis factor|IMP; GO:0070433|P:negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(134747,'Experimental MF/BP Leaf Term GOA',NULL,804,NULL,'GO:0008327|F:methyl-CpG binding|IDA',NULL,NULL,NULL,NULL,NULL),(134748,'Experimental MF/BP Leaf Term GOA',NULL,805,NULL,'GO:0051082|F:unfolded protein binding|IDA; GO:1904153|P:negative regulation of retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(134749,'Experimental MF/BP Leaf Term GOA',NULL,808,NULL,'GO:0003756|F:protein disulfide isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134750,'Experimental MF/BP Leaf Term GOA',NULL,814,NULL,'GO:0030544|F:Hsp70 protein binding|IPI; GO:0036505|F:prosaposin receptor activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(134751,'Experimental MF/BP Leaf Term GOA',NULL,818,NULL,'GO:0004949|F:cannabinoid receptor activity|IDA; GO:0007202|P:activation of phospholipase C activity|IDA; GO:0045453|P:bone resorption|IDA; GO:0035025|P:positive regulation of Rho protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(134752,'Experimental MF/BP Leaf Term GOA',NULL,819,NULL,'GO:1990763|F:arrestin family protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(134753,'Experimental MF/BP Leaf Term GOA',NULL,820,NULL,'GO:1990763|F:arrestin family protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(134754,'Experimental MF/BP Leaf Term GOA',NULL,832,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0010875|P:positive regulation of cholesterol efflux|IDA',NULL,NULL,NULL,NULL,NULL),(134755,'Experimental MF/BP Leaf Term GOA',NULL,839,NULL,'GO:0003975|F:UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|IDA; GO:0003976|F:UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|IDA; GO:0006488|P:dolichol-linked oligosaccharide biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134756,'Experimental MF/BP Leaf Term GOA',NULL,841,NULL,'GO:0004602|F:glutathione peroxidase activity|IMP',NULL,NULL,NULL,NULL,NULL),(134757,'Experimental MF/BP Leaf Term GOA',NULL,851,NULL,'GO:0000340|F:RNA 7-methylguanosine cap binding|IDA; GO:0030619|F:U1 snRNA binding|IDA; GO:0030621|F:U4 snRNA binding|IDA; GO:0030622|F:U4atac snRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(134758,'Experimental MF/BP Leaf Term GOA',NULL,853,NULL,'GO:0046875|F:ephrin receptor binding|IPI; GO:0048013|P:ephrin receptor signaling pathway|IDA; GO:1900025|P:negative regulation of substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(134759,'Experimental MF/BP Leaf Term GOA',NULL,855,NULL,'GO:0046875|F:ephrin receptor binding|IPI; GO:0002042|P:cell migration involved in sprouting angiogenesis|IDA; GO:0048013|P:ephrin receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134760,'Experimental MF/BP Leaf Term GOA',NULL,856,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(134761,'Experimental MF/BP Leaf Term GOA',NULL,857,NULL,'GO:0017108|F:5\'-flap endonuclease activity|IDA; GO:0008821|F:crossover junction endodeoxyribonuclease activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0071140|P:resolution of mitotic recombination intermediates|IMP',NULL,NULL,NULL,NULL,NULL),(134762,'Experimental MF/BP Leaf Term GOA',NULL,858,NULL,'GO:0043546|F:molybdopterin cofactor binding|IDA; GO:0097112|P:gamma-aminobutyric acid receptor clustering|IDA; GO:0032324|P:molybdopterin cofactor biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134763,'Experimental MF/BP Leaf Term GOA',NULL,859,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IEP; GO:0010956|P:negative regulation of calcidiol 1-monooxygenase activity|IDA; GO:0070105|P:positive regulation of interleukin-6-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134764,'Experimental MF/BP Leaf Term GOA',NULL,862,NULL,'GO:0046854|P:phosphatidylinositol phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(134765,'Experimental MF/BP Leaf Term GOA',NULL,868,NULL,'GO:0005524|F:ATP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0007417|P:central nervous system development|IMP; GO:0014003|P:oligodendrocyte development|IMP; GO:0001541|P:ovarian follicle development|IMP; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134766,'Experimental MF/BP Leaf Term GOA',NULL,877,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001085|F:RNA polymerase II transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(134767,'Experimental MF/BP Leaf Term GOA',NULL,878,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0032422|F:purine-rich negative regulatory element binding|IDA',NULL,NULL,NULL,NULL,NULL),(134768,'Experimental MF/BP Leaf Term GOA',NULL,880,NULL,'GO:0009922|F:fatty acid elongase activity|IDA; GO:0034625|P:fatty acid elongation, monounsaturated fatty acid|IDA; GO:0019367|P:fatty acid elongation, saturated fatty acid|IDA; GO:0042761|P:very long-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134769,'Experimental MF/BP Leaf Term GOA',NULL,881,NULL,'GO:0009922|F:fatty acid elongase activity|IDA; GO:0034626|P:fatty acid elongation, polyunsaturated fatty acid|IDA; GO:0042761|P:very long-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134770,'Experimental MF/BP Leaf Term GOA',NULL,882,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134771,'Experimental MF/BP Leaf Term GOA',NULL,883,NULL,'GO:0009922|F:fatty acid elongase activity|EXP; GO:0034625|P:fatty acid elongation, monounsaturated fatty acid|IDA; GO:0034626|P:fatty acid elongation, polyunsaturated fatty acid|IDA; GO:0019367|P:fatty acid elongation, saturated fatty acid|IDA; GO:0042761|P:very long-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134772,'Experimental MF/BP Leaf Term GOA',NULL,891,NULL,'GO:0005525|F:GTP binding|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(134773,'Experimental MF/BP Leaf Term GOA',NULL,909,NULL,'GO:0050750|F:low-density lipoprotein particle receptor binding|IDA; GO:0031247|P:actin rod assembly|IDA; GO:0030970|P:retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(134774,'Experimental MF/BP Leaf Term GOA',NULL,910,NULL,'GO:0007420|P:brain development|IMP; GO:0002302|P:CD8-positive, alpha-beta T cell differentiation involved in immune response|IMP',NULL,NULL,NULL,NULL,NULL),(134775,'Experimental MF/BP Leaf Term GOA',NULL,913,NULL,'GO:0004528|F:phosphodiesterase I activity|IMP; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(134776,'Experimental MF/BP Leaf Term GOA',NULL,919,NULL,'GO:0030948|P:negative regulation of vascular endothelial growth factor receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(134777,'Experimental MF/BP Leaf Term GOA',NULL,920,NULL,'GO:0005138|F:interleukin-6 receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(134778,'Experimental MF/BP Leaf Term GOA',NULL,923,NULL,'GO:0038132|F:neuregulin binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0097192|P:extrinsic apoptotic signaling pathway in absence of ligand|IMP; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IDA',NULL,NULL,NULL,NULL,NULL),(134779,'Experimental MF/BP Leaf Term GOA',NULL,924,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0006265|P:DNA topological change|IMP; GO:0000717|P:nucleotide-excision repair, DNA duplex unwinding|IMP; GO:0006283|P:transcription-coupled nucleotide-excision repair|IDA',NULL,NULL,NULL,NULL,NULL),(134780,'Experimental MF/BP Leaf Term GOA',NULL,925,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(134781,'Experimental MF/BP Leaf Term GOA',NULL,926,NULL,'GO:0051539|F:4 iron, 4 sulfur cluster binding|IDA; GO:0045145|F:single-stranded DNA 5\'-3\' exodeoxyribonuclease activity|IDA',NULL,NULL,NULL,NULL,NULL),(134782,'Experimental MF/BP Leaf Term GOA',NULL,929,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0016576|P:histone dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(134783,'Experimental MF/BP Leaf Term GOA',NULL,931,NULL,'GO:0035248|F:alpha-1,4-N-acetylgalactosaminyltransferase activity|IDA; GO:0001888|F:glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134784,'Experimental MF/BP Leaf Term GOA',NULL,932,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0034236|F:protein kinase A catalytic subunit binding|IPI; GO:0034237|F:protein kinase A regulatory subunit binding|IPI; GO:0044548|F:S100 protein binding|IPI; GO:0031532|P:actin cytoskeleton reorganization|IMP; GO:0071320|P:cellular response to cAMP|IMP; GO:0043622|P:cortical microtubule organization|IMP; GO:0051660|P:establishment of centrosome localization|IMP; GO:0022614|P:membrane to membrane docking|IEP; GO:0030033|P:microvillus assembly|IMP; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP; GO:1900041|P:negative regulation of interleukin-2 secretion|IMP; GO:1903753|P:negative regulation of p38MAPK cascade|IMP; GO:2000643|P:positive regulation of early endosome to late endosome transport|IMP; GO:1902966|P:positive regulation of protein localization to early endosome|IGI; GO:0010737|P:protein kinase A signaling|IMP; GO:0003376|P:sphingosine-1-phosphate receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(134785,'Experimental MF/BP Leaf Term GOA',NULL,943,NULL,'GO:0005112|F:Notch binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(134786,'Experimental MF/BP Leaf Term GOA',NULL,944,NULL,'GO:0035970|P:peptidyl-threonine dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(134787,'Experimental MF/BP Leaf Term GOA',NULL,946,NULL,'GO:0008432|F:JUN kinase binding|IDA; GO:0048273|F:mitogen-activated protein kinase p38 binding|IPI; GO:0008330|F:protein tyrosine/threonine phosphatase activity|IDA; GO:0043508|P:negative regulation of JUN kinase activity|IDA; GO:1903753|P:negative regulation of p38MAPK cascade|IDA; GO:0035970|P:peptidyl-threonine dephosphorylation|IDA; GO:1990264|P:peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134788,'Experimental MF/BP Leaf Term GOA',NULL,948,NULL,'GO:0016167|F:glial cell-derived neurotrophic factor receptor activity|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(134789,'Experimental MF/BP Leaf Term GOA',NULL,962,NULL,'GO:0030306|F:ADP-ribosylation factor binding|IPI; GO:0046982|F:protein heterodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(134790,'Experimental MF/BP Leaf Term GOA',NULL,964,NULL,'GO:0030306|F:ADP-ribosylation factor binding|IDA',NULL,NULL,NULL,NULL,NULL),(134791,'Experimental MF/BP Leaf Term GOA',NULL,965,NULL,'GO:0030306|F:ADP-ribosylation factor binding|IDA',NULL,NULL,NULL,NULL,NULL),(134792,'Experimental MF/BP Leaf Term GOA',NULL,966,NULL,'GO:0061929|F:gamma-glutamylaminecyclotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134793,'Experimental MF/BP Leaf Term GOA',NULL,967,NULL,'GO:0003839|F:gamma-glutamylcyclotransferase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0001836|P:release of cytochrome c from mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(134794,'Experimental MF/BP Leaf Term GOA',NULL,970,NULL,'GO:0034722|F:gamma-glutamyl-peptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134795,'Experimental MF/BP Leaf Term GOA',NULL,975,NULL,'GO:0010385|F:double-stranded methylated DNA binding|IDA; GO:0044729|F:hemi-methylated DNA-binding|IDA; GO:0035035|F:histone acetyltransferase binding|IPI; GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0098759|P:cellular response to interleukin-8|IDA; GO:0070498|P:interleukin-1-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(134796,'Experimental MF/BP Leaf Term GOA',NULL,976,NULL,'GO:0001732|P:formation of cytoplasmic translation initiation complex|IDA; GO:0075522|P:IRES-dependent viral translational initiation|IDA; GO:0075525|P:viral translational termination-reinitiation|IDA',NULL,NULL,NULL,NULL,NULL),(134797,'Experimental MF/BP Leaf Term GOA',NULL,977,NULL,'GO:0047390|F:glycerophosphocholine cholinephosphodiesterase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134798,'Experimental MF/BP Leaf Term GOA',NULL,979,NULL,'GO:0004622|F:lysophospholipase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0034638|P:phosphatidylcholine catabolic process|IDA; GO:2000394|P:positive regulation of lamellipodium morphogenesis|IGI',NULL,NULL,NULL,NULL,NULL),(134799,'Experimental MF/BP Leaf Term GOA',NULL,980,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0045741|P:positive regulation of epidermal growth factor-activated receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(134800,'Experimental MF/BP Leaf Term GOA',NULL,984,NULL,'GO:0004900|F:erythropoietin receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(134801,'Experimental MF/BP Leaf Term GOA',NULL,985,NULL,'GO:0005128|F:erythropoietin receptor binding|IMP; GO:0038162|P:erythropoietin-mediated signaling pathway|IMP; GO:1902251|P:negative regulation of erythrocyte apoptotic process|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(134802,'Experimental MF/BP Leaf Term GOA',NULL,987,NULL,'GO:0008201|F:heparin binding|IDA; GO:0045545|F:syndecan binding|IPI',NULL,NULL,NULL,NULL,NULL),(134803,'Experimental MF/BP Leaf Term GOA',NULL,989,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0046982|F:protein heterodimerization activity|IDA; GO:0001042|F:RNA polymerase I core binding|IDA; GO:0071364|P:cellular response to epidermal growth factor stimulus|IMP; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IDA; GO:0045945|P:positive regulation of transcription by RNA polymerase III|IDA',NULL,NULL,NULL,NULL,NULL),(134804,'Experimental MF/BP Leaf Term GOA',NULL,990,NULL,'GO:0043616|P:keratinocyte proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(134805,'Experimental MF/BP Leaf Term GOA',NULL,991,NULL,'GO:1990825|F:sequence-specific mRNA binding|IMP',NULL,NULL,NULL,NULL,NULL),(134806,'Experimental MF/BP Leaf Term GOA',NULL,996,NULL,'GO:0046526|F:D-xylulose reductase activity|EXP; GO:0003939|F:L-iditol 2-dehydrogenase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0046370|P:fructose biosynthetic process|IDA; GO:0006062|P:sorbitol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(134807,'Experimental MF/BP Leaf Term GOA',NULL,1001,NULL,'GO:0017017|F:MAP kinase tyrosine/serine/threonine phosphatase activity|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP',NULL,NULL,NULL,NULL,NULL),(134808,'Experimental MF/BP Leaf Term GOA',NULL,1005,NULL,'GO:0004170|F:dUTP diphosphatase activity|EXP',NULL,NULL,NULL,NULL,NULL),(134809,'Experimental MF/BP Leaf Term GOA',NULL,1006,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134810,'Experimental MF/BP Leaf Term GOA',NULL,1011,NULL,'GO:0003743|F:translation initiation factor activity|IDA; GO:0001731|P:formation of translation preinitiation complex|IDA; GO:0075522|P:IRES-dependent viral translational initiation|IDA; GO:0032790|P:ribosome disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(134811,'Experimental MF/BP Leaf Term GOA',NULL,1012,NULL,'GO:0014003|P:oligodendrocyte development|IMP; GO:0001541|P:ovarian follicle development|IMP; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134812,'Experimental MF/BP Leaf Term GOA',NULL,1014,NULL,'GO:0045945|P:positive regulation of transcription by RNA polymerase III|IMP; GO:0032968|P:positive regulation of transcription elongation from RNA polymerase II promoter|IMP; GO:0042795|P:snRNA transcription by RNA polymerase II|IMP; GO:0042796|P:snRNA transcription by RNA polymerase III|IMP',NULL,NULL,NULL,NULL,NULL),(134813,'Experimental MF/BP Leaf Term GOA',NULL,1015,NULL,'GO:0008607|F:phosphorylase kinase regulator activity|IDA',NULL,NULL,NULL,NULL,NULL),(134814,'Experimental MF/BP Leaf Term GOA',NULL,1017,NULL,'GO:0008607|F:phosphorylase kinase regulator activity|IDA',NULL,NULL,NULL,NULL,NULL),(134815,'Experimental MF/BP Leaf Term GOA',NULL,1018,NULL,'GO:0008607|F:phosphorylase kinase regulator activity|IDA',NULL,NULL,NULL,NULL,NULL),(134816,'Experimental MF/BP Leaf Term GOA',NULL,1022,NULL,'GO:0043014|F:alpha-tubulin binding|IMP; GO:0045504|F:dynein heavy chain binding|IDA; GO:0036158|P:outer dynein arm assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134817,'Experimental MF/BP Leaf Term GOA',NULL,1024,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0003887|F:DNA-directed DNA polymerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134818,'Experimental MF/BP Leaf Term GOA',NULL,1025,NULL,'GO:0051575|F:5\'-deoxyribose-5-phosphate lyase activity|IDA; GO:0003887|F:DNA-directed DNA polymerase activity|IDA; GO:0097681|P:double-strand break repair via alternative nonhomologous end joining|IDA',NULL,NULL,NULL,NULL,NULL),(134819,'Experimental MF/BP Leaf Term GOA',NULL,1026,NULL,'GO:0003887|F:DNA-directed DNA polymerase activity|IDA; GO:0006287|P:base-excision repair, gap-filling|IDA',NULL,NULL,NULL,NULL,NULL),(134820,'Experimental MF/BP Leaf Term GOA',NULL,1027,NULL,'GO:0003887|F:DNA-directed DNA polymerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134821,'Experimental MF/BP Leaf Term GOA',NULL,1029,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0007420|P:brain development|IDA; GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IDA',NULL,NULL,NULL,NULL,NULL),(134822,'Experimental MF/BP Leaf Term GOA',NULL,1031,NULL,'GO:0022851|F:GABA-gated chloride ion channel activity|IDA; GO:1902476|P:chloride transmembrane transport|IDA',NULL,NULL,NULL,NULL,NULL),(134823,'Experimental MF/BP Leaf Term GOA',NULL,1033,NULL,'GO:0086073|P:bundle of His cell-Purkinje myocyte adhesion involved in cell communication|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(134824,'Experimental MF/BP Leaf Term GOA',NULL,1037,NULL,'GO:0030957|F:Tat protein binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(134825,'Experimental MF/BP Leaf Term GOA',NULL,1039,NULL,'GO:0004134|F:4-alpha-glucanotransferase activity|EXP; GO:0004135|F:amylo-alpha-1,6-glucosidase activity|EXP',NULL,NULL,NULL,NULL,NULL),(134826,'Experimental MF/BP Leaf Term GOA',NULL,1040,NULL,'GO:0060395|P:SMAD protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(134827,'Experimental MF/BP Leaf Term GOA',NULL,1042,NULL,'GO:0001569|P:branching involved in blood vessel morphogenesis|IDA; GO:0071773|P:cellular response to BMP stimulus|IDA; GO:0060389|P:pathway-restricted SMAD protein phosphorylation|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(134828,'Experimental MF/BP Leaf Term GOA',NULL,1050,NULL,'GO:0036374|F:glutathione hydrolase activity|IDA; GO:0002951|F:leukotriene-C(4) hydrolase|IDA; GO:0000048|F:peptidyltransferase activity|IDA; GO:0006751|P:glutathione catabolic process|IDA; GO:1901750|P:leukotriene D4 biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134829,'Experimental MF/BP Leaf Term GOA',NULL,1053,NULL,'GO:0003746|F:translation elongation factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(134830,'Experimental MF/BP Leaf Term GOA',NULL,1054,NULL,'GO:0014003|P:oligodendrocyte development|IMP; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134831,'Experimental MF/BP Leaf Term GOA',NULL,1055,NULL,'GO:0035035|F:histone acetyltransferase binding|IDA; GO:0035034|F:histone acetyltransferase regulator activity|IDA',NULL,NULL,NULL,NULL,NULL),(134832,'Experimental MF/BP Leaf Term GOA',NULL,1056,NULL,'GO:0042795|P:snRNA transcription by RNA polymerase II|IMP',NULL,NULL,NULL,NULL,NULL),(134833,'Experimental MF/BP Leaf Term GOA',NULL,1058,NULL,'GO:0004305|F:ethanolamine kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134834,'Experimental MF/BP Leaf Term GOA',NULL,1061,NULL,'GO:0017017|F:MAP kinase tyrosine/serine/threonine phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134835,'Experimental MF/BP Leaf Term GOA',NULL,1062,NULL,'GO:0071364|P:cellular response to epidermal growth factor stimulus|IMP; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:0120183|P:positive regulation of focal adhesion disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(134836,'Experimental MF/BP Leaf Term GOA',NULL,1063,NULL,'GO:0004361|F:glutaryl-CoA dehydrogenase activity|EXP; GO:0033539|P:fatty acid beta-oxidation using acyl-CoA dehydrogenase|IDA',NULL,NULL,NULL,NULL,NULL),(134837,'Experimental MF/BP Leaf Term GOA',NULL,1064,NULL,'GO:0004726|F:non-membrane spanning protein tyrosine phosphatase activity|IDA; GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA; GO:0051895|P:negative regulation of focal adhesion assembly|IDA; GO:1903996|P:negative regulation of non-membrane spanning protein tyrosine kinase activity|IMP',NULL,NULL,NULL,NULL,NULL),(134838,'Experimental MF/BP Leaf Term GOA',NULL,1065,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134839,'Experimental MF/BP Leaf Term GOA',NULL,1067,NULL,'GO:0098808|F:mRNA cap binding|IDA; GO:0002191|P:cap-dependent translational initiation|IDA; GO:0075522|P:IRES-dependent viral translational initiation|IDA; GO:0075525|P:viral translational termination-reinitiation|IDA',NULL,NULL,NULL,NULL,NULL),(134840,'Experimental MF/BP Leaf Term GOA',NULL,1068,NULL,'GO:0070742|F:C2H2 zinc finger domain binding|IPI; GO:0002039|F:p53 binding|IPI; GO:1990841|F:promoter-specific chromatin binding|IDA',NULL,NULL,NULL,NULL,NULL),(134841,'Experimental MF/BP Leaf Term GOA',NULL,1069,NULL,'GO:0005534|F:galactose binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0050431|F:transforming growth factor beta binding|IPI; GO:0034713|F:type I transforming growth factor beta receptor binding|IPI; GO:0005114|F:type II transforming growth factor beta receptor binding|IPI; GO:0022009|P:central nervous system vasculogenesis|IMP; GO:0001300|P:chronological cell aging|IEP; GO:0022617|P:extracellular matrix disassembly|IMP; GO:0051001|P:negative regulation of nitric-oxide synthase activity|IMP; GO:0060394|P:negative regulation of pathway-restricted SMAD protein phosphorylation|IMP; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IGI',NULL,NULL,NULL,NULL,NULL),(134842,'Experimental MF/BP Leaf Term GOA',NULL,1071,NULL,'GO:0075525|P:viral translational termination-reinitiation|IDA',NULL,NULL,NULL,NULL,NULL),(134843,'Experimental MF/BP Leaf Term GOA',NULL,1072,NULL,'GO:0042795|P:snRNA transcription by RNA polymerase II|IMP; GO:0006368|P:transcription elongation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(134844,'Experimental MF/BP Leaf Term GOA',NULL,1073,NULL,'GO:0003743|F:translation initiation factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(134845,'Experimental MF/BP Leaf Term GOA',NULL,1076,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(134846,'Experimental MF/BP Leaf Term GOA',NULL,1077,NULL,'GO:0017124|F:SH3 domain binding|IPI; GO:0016601|P:Rac protein signal transduction|IGI',NULL,NULL,NULL,NULL,NULL),(134847,'Experimental MF/BP Leaf Term GOA',NULL,1078,NULL,'GO:0035198|F:miRNA binding|IDA; GO:0035925|F:mRNA 3\'-UTR AU-rich region binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0070935|P:3\'-UTR-mediated mRNA stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(134848,'Experimental MF/BP Leaf Term GOA',NULL,1079,NULL,'GO:0008201|F:heparin binding|IDA; GO:0002812|P:biosynthetic process of antibacterial peptides active against Gram-negative bacteria|IDA; GO:0045415|P:negative regulation of interleukin-8 biosynthetic process|IDA; GO:0070945|P:neutrophil mediated killing of gram-negative bacterium|IDA; GO:0045416|P:positive regulation of interleukin-8 biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134849,'Experimental MF/BP Leaf Term GOA',NULL,1080,NULL,'GO:0019367|P:fatty acid elongation, saturated fatty acid|IDA; GO:0042761|P:very long-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134850,'Experimental MF/BP Leaf Term GOA',NULL,1081,NULL,'GO:0045134|F:uridine-diphosphatase activity|IDA; GO:0006256|P:UDP catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(134851,'Experimental MF/BP Leaf Term GOA',NULL,1084,NULL,'GO:0023026|F:MHC class II protein complex binding|IDA; GO:0002503|P:peptide antigen assembly with MHC class II protein complex|IDA',NULL,NULL,NULL,NULL,NULL),(134852,'Experimental MF/BP Leaf Term GOA',NULL,1085,NULL,'GO:0036158|P:outer dynein arm assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134853,'Experimental MF/BP Leaf Term GOA',NULL,1086,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0035331|P:negative regulation of hippo signaling|IMP; GO:0035332|P:positive regulation of hippo signaling|IMP',NULL,NULL,NULL,NULL,NULL),(134854,'Experimental MF/BP Leaf Term GOA',NULL,1087,NULL,'GO:0060352|P:cell adhesion molecule production|IMP; GO:0050901|P:leukocyte tethering or rolling|IMP',NULL,NULL,NULL,NULL,NULL),(134855,'Experimental MF/BP Leaf Term GOA',NULL,1091,NULL,'GO:0036159|P:inner dynein arm assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134856,'Experimental MF/BP Leaf Term GOA',NULL,1103,NULL,'GO:0017124|F:SH3 domain binding|IDA; GO:1903526|P:negative regulation of membrane tubulation|IDA; GO:0033572|P:transferrin transport|IMP',NULL,NULL,NULL,NULL,NULL),(134857,'Experimental MF/BP Leaf Term GOA',NULL,1106,NULL,'GO:0004146|F:dihydrofolate reductase activity|IMP; GO:0046105|P:thymidine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134858,'Experimental MF/BP Leaf Term GOA',NULL,1107,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IDA; GO:0070885|P:negative regulation of calcineurin-NFAT signaling cascade|IMP; GO:0045725|P:positive regulation of glycogen biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134859,'Experimental MF/BP Leaf Term GOA',NULL,1108,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0035063|P:nuclear speck organization|IDA; GO:0035617|P:stress granule disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(134860,'Experimental MF/BP Leaf Term GOA',NULL,1113,NULL,'GO:0004694|F:eukaryotic translation initiation factor 2alpha kinase activity|IDA; GO:1990641|P:response to iron ion starvation|IDA',NULL,NULL,NULL,NULL,NULL),(134861,'Experimental MF/BP Leaf Term GOA',NULL,1114,NULL,'GO:0004694|F:eukaryotic translation initiation factor 2alpha kinase activity|IMP; GO:0033689|P:negative regulation of osteoblast proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(134862,'Experimental MF/BP Leaf Term GOA',NULL,1115,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA',NULL,NULL,NULL,NULL,NULL),(134863,'Experimental MF/BP Leaf Term GOA',NULL,1117,NULL,'GO:0004694|F:eukaryotic translation initiation factor 2alpha kinase activity|IDA; GO:0036492|P:eiF2alpha phosphorylation in response to endoplasmic reticulum stress|IMP; GO:0031018|P:endocrine pancreas development|IMP; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IMP',NULL,NULL,NULL,NULL,NULL),(134864,'Experimental MF/BP Leaf Term GOA',NULL,1118,NULL,'GO:0004694|F:eukaryotic translation initiation factor 2alpha kinase activity|IMP; GO:0036492|P:eiF2alpha phosphorylation in response to endoplasmic reticulum stress|IMP; GO:0060733|P:regulation of eIF2 alpha phosphorylation by amino acid starvation|IMP',NULL,NULL,NULL,NULL,NULL),(134865,'Experimental MF/BP Leaf Term GOA',NULL,1119,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0002040|P:sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(134866,'Experimental MF/BP Leaf Term GOA',NULL,1120,NULL,'GO:0009249|P:protein lipoylation|IDA',NULL,NULL,NULL,NULL,NULL),(134867,'Experimental MF/BP Leaf Term GOA',NULL,1124,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134868,'Experimental MF/BP Leaf Term GOA',NULL,1126,NULL,'GO:0036122|F:BMP binding|IPI; GO:0060591|P:chondroblast differentiation|IDA; GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(134869,'Experimental MF/BP Leaf Term GOA',NULL,1128,NULL,'GO:0060389|P:pathway-restricted SMAD protein phosphorylation|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0060395|P:SMAD protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(134870,'Experimental MF/BP Leaf Term GOA',NULL,1131,NULL,'GO:0003746|F:translation elongation factor activity|IDA; GO:0070125|P:mitochondrial translational elongation|IDA',NULL,NULL,NULL,NULL,NULL),(134871,'Experimental MF/BP Leaf Term GOA',NULL,1132,NULL,'GO:0008201|F:heparin binding|IDA; GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA; GO:0010757|P:negative regulation of plasminogen activation|IMP',NULL,NULL,NULL,NULL,NULL),(134872,'Experimental MF/BP Leaf Term GOA',NULL,1133,NULL,'GO:0004622|F:lysophospholipase activity|IMP; GO:0070291|P:N-acylethanolamine metabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(134873,'Experimental MF/BP Leaf Term GOA',NULL,1134,NULL,'GO:0017108|F:5\'-flap endonuclease activity|IDA; GO:0043504|P:mitochondrial DNA repair|IDA; GO:0006264|P:mitochondrial DNA replication|IDA',NULL,NULL,NULL,NULL,NULL),(134874,'Experimental MF/BP Leaf Term GOA',NULL,1135,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(134875,'Experimental MF/BP Leaf Term GOA',NULL,1136,NULL,'GO:0032148|P:activation of protein kinase B activity|IDA; GO:1901625|P:cellular response to ergosterol|IDA',NULL,NULL,NULL,NULL,NULL),(134876,'Experimental MF/BP Leaf Term GOA',NULL,1137,NULL,'GO:0004146|F:dihydrofolate reductase activity|IDA; GO:0005542|F:folic acid binding|IDA; GO:0051870|F:methotrexate binding|IDA; GO:0070402|F:NADPH binding|IDA; GO:1990825|F:sequence-specific mRNA binding|IDA; GO:0000900|F:translation repressor activity, mRNA regulatory element binding|IDA; GO:0006729|P:tetrahydrobiopterin biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(134877,'Experimental MF/BP Leaf Term GOA',NULL,1138,NULL,'GO:0005544|F:calcium-dependent phospholipid binding|IMP; GO:0002280|P:monocyte activation involved in immune response|IMP',NULL,NULL,NULL,NULL,NULL),(134878,'Experimental MF/BP Leaf Term GOA',NULL,1139,NULL,'GO:0051010|F:microtubule plus-end binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0031581|P:hemidesmosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(134879,'Experimental MF/BP Leaf Term GOA',NULL,1143,NULL,'GO:1905461|P:positive regulation of vascular associated smooth muscle cell apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(134880,'Experimental MF/BP Leaf Term GOA',NULL,1145,NULL,'GO:0071930|P:negative regulation of transcription involved in G1/S transition of mitotic cell cycle|IDA; GO:0002040|P:sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(134881,'Experimental MF/BP Leaf Term GOA',NULL,1146,NULL,'GO:0071930|P:negative regulation of transcription involved in G1/S transition of mitotic cell cycle|IMP',NULL,NULL,NULL,NULL,NULL),(134882,'Experimental MF/BP Leaf Term GOA',NULL,1149,NULL,'GO:0005314|F:high-affinity glutamate transmembrane transporter activity|IDA; GO:1902476|P:chloride transmembrane transport|IMP; GO:0070779|P:D-aspartate import across plasma membrane|IDA; GO:0140009|P:L-aspartate import across plasma membrane|IMP',NULL,NULL,NULL,NULL,NULL),(134883,'Experimental MF/BP Leaf Term GOA',NULL,1151,NULL,'GO:0034244|P:negative regulation of transcription elongation from RNA polymerase II promoter|IDA; GO:0032968|P:positive regulation of transcription elongation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(134884,'Experimental MF/BP Leaf Term GOA',NULL,1152,NULL,'GO:0044154|P:histone H3-K14 acetylation|IDA; GO:0043983|P:histone H4-K12 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(134885,'Experimental MF/BP Leaf Term GOA',NULL,1153,NULL,'GO:0035035|F:histone acetyltransferase binding|IDA',NULL,NULL,NULL,NULL,NULL),(134886,'Experimental MF/BP Leaf Term GOA',NULL,1158,NULL,'GO:0004300|F:enoyl-CoA hydratase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134887,'Experimental MF/BP Leaf Term GOA',NULL,1161,NULL,'GO:0004165|F:dodecenoyl-CoA delta-isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134888,'Experimental MF/BP Leaf Term GOA',NULL,1162,NULL,'GO:0072582|F:17-beta-hydroxysteroid dehydrogenase (NADP+) activity|IDA; GO:0072555|F:17-beta-ketosteroid reductase activity|IDA; GO:0000253|F:3-keto sterol reductase activity|IDA; GO:0004303|F:estradiol 17-beta-dehydrogenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134889,'Experimental MF/BP Leaf Term GOA',NULL,1163,NULL,'GO:0043023|F:ribosomal large subunit binding|IPI; GO:1900227|P:positive regulation of NLRP3 inflammasome complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(134890,'Experimental MF/BP Leaf Term GOA',NULL,1164,NULL,'GO:0060038|P:cardiac muscle cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(134891,'Experimental MF/BP Leaf Term GOA',NULL,1171,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(134892,'Experimental MF/BP Leaf Term GOA',NULL,1173,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0005109|F:frizzled binding|IPI; GO:0046982|F:protein heterodimerization activity|IDA; GO:0050821|P:protein stabilization|IGI',NULL,NULL,NULL,NULL,NULL),(134893,'Experimental MF/BP Leaf Term GOA',NULL,1175,NULL,'GO:0043008|F:ATP-dependent protein binding|IDA; GO:0030621|F:U4 snRNA binding|IDA; GO:0010501|P:RNA secondary structure unwinding|IDA; GO:0046784|P:viral mRNA export from host cell nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(134894,'Experimental MF/BP Leaf Term GOA',NULL,1176,NULL,'GO:0070095|F:fructose-6-phosphate binding|IDA; GO:0033132|P:negative regulation of glucokinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134895,'Experimental MF/BP Leaf Term GOA',NULL,1177,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134896,'Experimental MF/BP Leaf Term GOA',NULL,1179,NULL,'GO:0043015|F:gamma-tubulin binding|IDA',NULL,NULL,NULL,NULL,NULL),(134897,'Experimental MF/BP Leaf Term GOA',NULL,1184,NULL,'GO:0051879|F:Hsp90 protein binding|IPI; GO:0004879|F:nuclear receptor activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0038050|F:RNA polymerase II transcription factor activity, glucocorticoid-activated sequence-specific DNA binding|IDA; GO:0071549|P:cellular response to dexamethasone stimulus|IMP; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(134898,'Experimental MF/BP Leaf Term GOA',NULL,1185,NULL,'GO:0030317|P:flagellated sperm motility|IMP; GO:0036158|P:outer dynein arm assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134899,'Experimental MF/BP Leaf Term GOA',NULL,1188,NULL,'GO:0051549|P:positive regulation of keratinocyte migration|IMP',NULL,NULL,NULL,NULL,NULL),(134900,'Experimental MF/BP Leaf Term GOA',NULL,1189,NULL,'GO:0035497|F:cAMP response element binding|IDA',NULL,NULL,NULL,NULL,NULL),(134901,'Experimental MF/BP Leaf Term GOA',NULL,1192,NULL,'GO:0044344|P:cellular response to fibroblast growth factor stimulus|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IMP; GO:1903588|P:negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IDA; GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IDA; GO:0060579|P:ventral spinal cord interneuron fate commitment|IMP',NULL,NULL,NULL,NULL,NULL),(134902,'Experimental MF/BP Leaf Term GOA',NULL,1193,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134903,'Experimental MF/BP Leaf Term GOA',NULL,1194,NULL,'GO:1904399|F:heparan sulfate binding|IDA; GO:0001530|F:lipopolysaccharide binding|IDA; GO:0070891|F:lipoteichoic acid binding|IDA; GO:0005044|F:scavenger receptor activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0043152|P:induction of bacterial agglutination|IDA',NULL,NULL,NULL,NULL,NULL),(134904,'Experimental MF/BP Leaf Term GOA',NULL,1201,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0010815|P:bradykinin catabolic process|IDA; GO:0010816|P:calcitonin catabolic process|IDA; GO:0043583|P:ear development|IMP; GO:0042733|P:embryonic digit morphogenesis|IMP; GO:0034959|P:endothelin maturation|IDA; GO:0001921|P:positive regulation of receptor recycling|IMP; GO:0010814|P:substance P catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(134905,'Experimental MF/BP Leaf Term GOA',NULL,1204,NULL,'GO:0001530|F:lipopolysaccharide binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0043152|P:induction of bacterial agglutination|IDA; GO:0002227|P:innate immune response in mucosa|IDA',NULL,NULL,NULL,NULL,NULL),(134906,'Experimental MF/BP Leaf Term GOA',NULL,1207,NULL,'GO:0004571|F:mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|IMP; GO:1904382|P:mannose trimming involved in glycoprotein ERAD pathway|IMP; GO:1904154|P:positive regulation of retrograde protein transport, ER to cytosol|IMP; GO:0036509|P:trimming of terminal mannose on B branch|IMP; GO:0097466|P:ubiquitin-dependent glycoprotein ERAD pathway|IMP',NULL,NULL,NULL,NULL,NULL),(134907,'Experimental MF/BP Leaf Term GOA',NULL,1208,NULL,'GO:0004571|F:mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|IMP; GO:1904382|P:mannose trimming involved in glycoprotein ERAD pathway|IMP',NULL,NULL,NULL,NULL,NULL),(134908,'Experimental MF/BP Leaf Term GOA',NULL,1209,NULL,'GO:0001094|F:TFIID-class transcription factor complex binding|IDA',NULL,NULL,NULL,NULL,NULL),(134909,'Experimental MF/BP Leaf Term GOA',NULL,1211,NULL,'GO:0031708|F:endothelin B receptor binding|IPI; GO:0030593|P:neutrophil chemotaxis|IDA; GO:0003100|P:regulation of systemic arterial blood pressure by endothelin|IDA; GO:0014826|P:vein smooth muscle contraction|IDA',NULL,NULL,NULL,NULL,NULL),(134910,'Experimental MF/BP Leaf Term GOA',NULL,1220,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(134911,'Experimental MF/BP Leaf Term GOA',NULL,1222,NULL,'GO:0007417|P:central nervous system development|IEP',NULL,NULL,NULL,NULL,NULL),(134912,'Experimental MF/BP Leaf Term GOA',NULL,1224,NULL,'GO:0106137|F:IkappaB kinase complex binding|IDA; GO:0005133|F:interferon-gamma receptor binding|IDA; GO:0051059|F:NF-kappaB binding|IPI; GO:0060336|P:negative regulation of interferon-gamma-mediated signaling pathway|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(134913,'Experimental MF/BP Leaf Term GOA',NULL,1225,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0051082|F:unfolded protein binding|IDA; GO:0042026|P:protein refolding|IDA',NULL,NULL,NULL,NULL,NULL),(134914,'Experimental MF/BP Leaf Term GOA',NULL,1226,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0051087|F:chaperone binding|IPI; GO:0030544|F:Hsp70 protein binding|IPI; GO:0051082|F:unfolded protein binding|IDA; GO:0051085|P:chaperone cofactor-dependent protein refolding|IDA',NULL,NULL,NULL,NULL,NULL),(134915,'Experimental MF/BP Leaf Term GOA',NULL,1231,NULL,'GO:0023026|F:MHC class II protein complex binding|IDA',NULL,NULL,NULL,NULL,NULL),(134916,'Experimental MF/BP Leaf Term GOA',NULL,1233,NULL,'GO:0030676|F:Rac guanyl-nucleotide exchange factor activity|IDA; GO:0042608|F:T cell receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(134917,'Experimental MF/BP Leaf Term GOA',NULL,1234,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0030165|F:PDZ domain binding|IPI; GO:1904754|P:positive regulation of vascular associated smooth muscle cell migration|IMP',NULL,NULL,NULL,NULL,NULL),(134918,'Experimental MF/BP Leaf Term GOA',NULL,1235,NULL,'GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP; GO:1904754|P:positive regulation of vascular associated smooth muscle cell migration|IMP',NULL,NULL,NULL,NULL,NULL),(134919,'Experimental MF/BP Leaf Term GOA',NULL,1237,NULL,'GO:1990869|P:cellular response to chemokine|IMP; GO:0061485|P:memory T cell proliferation|IMP; GO:1903905|P:positive regulation of establishment of T cell polarity|IMP',NULL,NULL,NULL,NULL,NULL),(134920,'Experimental MF/BP Leaf Term GOA',NULL,1239,NULL,'GO:0019135|F:deoxyhypusine monooxygenase activity|IMP; GO:0008612|P:peptidyl-lysine modification to peptidyl-hypusine|IMP',NULL,NULL,NULL,NULL,NULL),(134921,'Experimental MF/BP Leaf Term GOA',NULL,1247,NULL,'GO:0004168|F:dolichol kinase activity|IDA; GO:0043048|P:dolichyl monophosphate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134922,'Experimental MF/BP Leaf Term GOA',NULL,1248,NULL,'GO:0007095|P:mitotic G2 DNA damage checkpoint|IMP; GO:0048478|P:replication fork protection|IMP',NULL,NULL,NULL,NULL,NULL),(134923,'Experimental MF/BP Leaf Term GOA',NULL,1251,NULL,'GO:0050178|F:phenylpyruvate tautomerase activity|IDA; GO:0010760|P:negative regulation of macrophage chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(134924,'Experimental MF/BP Leaf Term GOA',NULL,1252,NULL,'GO:0004500|F:dopamine beta-monooxygenase activity|IDA; GO:0042420|P:dopamine catabolic process|IDA; GO:0042421|P:norepinephrine biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(134925,'Experimental MF/BP Leaf Term GOA',NULL,1257,NULL,'GO:0043422|F:protein kinase B binding|IPI',NULL,NULL,NULL,NULL,NULL),(134926,'Experimental MF/BP Leaf Term GOA',NULL,1260,NULL,'GO:0042605|F:peptide antigen binding|IDA; GO:0019886|P:antigen processing and presentation of exogenous peptide antigen via MHC class II|IMP; GO:0071346|P:cellular response to interferon-gamma|IDA',NULL,NULL,NULL,NULL,NULL),(134927,'Experimental MF/BP Leaf Term GOA',NULL,1263,NULL,'GO:0002151|F:G-quadruplex RNA binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0035925|F:mRNA 3\'-UTR AU-rich region binding|IDA; GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:0070034|F:telomerase RNA binding|IDA; GO:0061158|P:3\'-UTR-mediated mRNA destabilization|IMP; GO:0044806|P:G-quadruplex DNA unwinding|IDA; GO:1902741|P:positive regulation of interferon-alpha secretion|IMP; GO:0010501|P:RNA secondary structure unwinding|IDA; GO:0090669|P:telomerase RNA stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(134928,'Experimental MF/BP Leaf Term GOA',NULL,1268,NULL,'GO:0030544|F:Hsp70 protein binding|IPI; GO:0071218|P:cellular response to misfolded protein|IDA; GO:0051085|P:chaperone cofactor-dependent protein refolding|IDA',NULL,NULL,NULL,NULL,NULL),(134929,'Experimental MF/BP Leaf Term GOA',NULL,1269,NULL,'GO:0039706|F:co-receptor binding|IPI; GO:0050750|F:low-density lipoprotein particle receptor binding|IDA; GO:1901296|P:negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment|IDA; GO:0060394|P:negative regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:1904723|P:negative regulation of Wnt-Frizzled-LRP5/6 complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(134930,'Experimental MF/BP Leaf Term GOA',NULL,1273,NULL,'GO:0005524|F:ATP binding|IDA; GO:0017020|F:myosin phosphatase regulator activity|IDA',NULL,NULL,NULL,NULL,NULL),(134931,'Experimental MF/BP Leaf Term GOA',NULL,1278,NULL,'GO:0003887|F:DNA-directed DNA polymerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134932,'Experimental MF/BP Leaf Term GOA',NULL,1279,NULL,'GO:0050567|F:glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity|IDA; GO:0070681|P:glutaminyl-tRNAGln biosynthesis via transamidation|IDA; GO:0032543|P:mitochondrial translation|IMP',NULL,NULL,NULL,NULL,NULL),(134933,'Experimental MF/BP Leaf Term GOA',NULL,1286,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(134934,'Experimental MF/BP Leaf Term GOA',NULL,1290,NULL,'GO:0005525|F:GTP binding|IDA; GO:0003934|F:GTP cyclohydrolase I activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0050884|P:neuromuscular process controlling posture|IMP; GO:0051000|P:positive regulation of nitric-oxide synthase activity|IDA; GO:0006729|P:tetrahydrobiopterin biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134935,'Experimental MF/BP Leaf Term GOA',NULL,1291,NULL,'GO:0030643|P:cellular phosphate ion homeostasis|IMP; GO:0060017|P:parathyroid gland development|IMP',NULL,NULL,NULL,NULL,NULL),(134936,'Experimental MF/BP Leaf Term GOA',NULL,1295,NULL,'GO:0034237|F:protein kinase A regulatory subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(134937,'Experimental MF/BP Leaf Term GOA',NULL,1296,NULL,'GO:0051959|F:dynein light intermediate chain binding|IPI; GO:1905832|P:positive regulation of spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134938,'Experimental MF/BP Leaf Term GOA',NULL,1298,NULL,'GO:0030317|P:flagellated sperm motility|IMP',NULL,NULL,NULL,NULL,NULL),(134939,'Experimental MF/BP Leaf Term GOA',NULL,1299,NULL,'GO:0030317|P:flagellated sperm motility|IMP; GO:0036159|P:inner dynein arm assembly|IDA; GO:0007288|P:sperm axoneme assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134940,'Experimental MF/BP Leaf Term GOA',NULL,1302,NULL,'GO:0019060|P:intracellular transport of viral protein in host cell|IMP',NULL,NULL,NULL,NULL,NULL),(134941,'Experimental MF/BP Leaf Term GOA',NULL,1303,NULL,'GO:0034205|P:amyloid-beta formation|IMP; GO:0038083|P:peptidyl-tyrosine autophosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(134942,'Experimental MF/BP Leaf Term GOA',NULL,1304,NULL,'GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0097111|P:endoplasmic reticulum-Golgi intermediate compartment organization|IMP; GO:0090166|P:Golgi disassembly|IMP; GO:0006895|P:Golgi to endosome transport|IMP; GO:0030593|P:neutrophil chemotaxis|IMP; GO:0070973|P:protein localization to endoplasmic reticulum exit site|IMP',NULL,NULL,NULL,NULL,NULL),(134943,'Experimental MF/BP Leaf Term GOA',NULL,1312,NULL,'GO:0048842|P:positive regulation of axon extension involved in axon guidance|IDA',NULL,NULL,NULL,NULL,NULL),(134944,'Experimental MF/BP Leaf Term GOA',NULL,1314,NULL,'GO:0048487|F:beta-tubulin binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(134945,'Experimental MF/BP Leaf Term GOA',NULL,1315,NULL,'GO:0022851|F:GABA-gated chloride ion channel activity|IDA; GO:1902476|P:chloride transmembrane transport|IDA; GO:0007214|P:gamma-aminobutyric acid signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(134946,'Experimental MF/BP Leaf Term GOA',NULL,1316,NULL,'GO:0004890|F:GABA-A receptor activity|IMP; GO:0022851|F:GABA-gated chloride ion channel activity|IDA; GO:0071420|P:cellular response to histamine|IDA; GO:1902476|P:chloride transmembrane transport|IDA; GO:0007214|P:gamma-aminobutyric acid signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(134947,'Experimental MF/BP Leaf Term GOA',NULL,1322,NULL,'GO:1990439|F:MAP kinase serine/threonine phosphatase activity|IDA; GO:0008330|F:protein tyrosine/threonine phosphatase activity|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP; GO:0035970|P:peptidyl-threonine dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(134948,'Experimental MF/BP Leaf Term GOA',NULL,1326,NULL,'GO:0034499|P:late endosome to Golgi transport|IMP; GO:0071955|P:recycling endosome to Golgi transport|IMP',NULL,NULL,NULL,NULL,NULL),(134949,'Experimental MF/BP Leaf Term GOA',NULL,1330,NULL,'GO:0005109|F:frizzled binding|IPI',NULL,NULL,NULL,NULL,NULL),(134950,'Experimental MF/BP Leaf Term GOA',NULL,1332,NULL,'GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(134951,'Experimental MF/BP Leaf Term GOA',NULL,1334,NULL,'GO:0008419|F:RNA lariat debranching enzyme activity|IMP',NULL,NULL,NULL,NULL,NULL),(134952,'Experimental MF/BP Leaf Term GOA',NULL,1337,NULL,'GO:0004137|F:deoxycytidine kinase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(134953,'Experimental MF/BP Leaf Term GOA',NULL,1340,NULL,'GO:0008670|F:2,4-dienoyl-CoA reductase (NADPH) activity|IDA; GO:0019166|F:trans-2-enoyl-CoA reductase (NADPH) activity|IDA',NULL,NULL,NULL,NULL,NULL),(134954,'Experimental MF/BP Leaf Term GOA',NULL,1341,NULL,'GO:0008143|F:poly(A) binding|IDA; GO:1903608|P:protein localization to cytoplasmic stress granule|IMP; GO:0006388|P:tRNA splicing, via endonucleolytic cleavage and ligation|IMP',NULL,NULL,NULL,NULL,NULL),(134955,'Experimental MF/BP Leaf Term GOA',NULL,1342,NULL,'GO:0038062|F:protein tyrosine kinase collagen receptor activity|IDA; GO:0038063|P:collagen-activated tyrosine kinase receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(134956,'Experimental MF/BP Leaf Term GOA',NULL,1343,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA; GO:0032483|P:regulation of Rab protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(134957,'Experimental MF/BP Leaf Term GOA',NULL,1344,NULL,'GO:0004138|F:deoxyguanosine kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134958,'Experimental MF/BP Leaf Term GOA',NULL,1347,NULL,'GO:0030544|F:Hsp70 protein binding|IPI; GO:0051085|P:chaperone cofactor-dependent protein refolding|IDA',NULL,NULL,NULL,NULL,NULL),(134959,'Experimental MF/BP Leaf Term GOA',NULL,1348,NULL,'GO:1904158|P:axonemal central apparatus assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134960,'Experimental MF/BP Leaf Term GOA',NULL,1352,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134961,'Experimental MF/BP Leaf Term GOA',NULL,1353,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134962,'Experimental MF/BP Leaf Term GOA',NULL,1354,NULL,'GO:0047045|F:testosterone 17-beta-dehydrogenase (NADP+) activity|IDA',NULL,NULL,NULL,NULL,NULL),(134963,'Experimental MF/BP Leaf Term GOA',NULL,1355,NULL,'GO:0043531|F:ADP binding|IDA; GO:0004352|F:glutamate dehydrogenase (NAD+) activity|IDA; GO:0005525|F:GTP binding|IDA; GO:0070728|F:leucine binding|IDA',NULL,NULL,NULL,NULL,NULL),(134964,'Experimental MF/BP Leaf Term GOA',NULL,1356,NULL,'GO:0008198|F:ferrous iron binding|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(134965,'Experimental MF/BP Leaf Term GOA',NULL,1357,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0051087|F:chaperone binding|IDA; GO:0030544|F:Hsp70 protein binding|IPI; GO:0051787|F:misfolded protein binding|IDA; GO:0034975|P:protein folding in endoplasmic reticulum|IDA',NULL,NULL,NULL,NULL,NULL),(134966,'Experimental MF/BP Leaf Term GOA',NULL,1360,NULL,'GO:0005112|F:Notch binding|IPI; GO:0030957|F:Tat protein binding|IPI; GO:0097150|P:neuronal stem cell population maintenance|IEP',NULL,NULL,NULL,NULL,NULL),(134967,'Experimental MF/BP Leaf Term GOA',NULL,1365,NULL,'GO:0022851|F:GABA-gated chloride ion channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(134968,'Experimental MF/BP Leaf Term GOA',NULL,1368,NULL,'GO:0097677|F:STAT family protein binding|IPI; GO:0002230|P:positive regulation of defense response to virus by host|IGI; GO:2001034|P:positive regulation of double-strand break repair via nonhomologous end joining|IMP; GO:1901666|P:positive regulation of NAD+ ADP-ribosyltransferase activity|IDA; GO:1902966|P:positive regulation of protein localization to early endosome|IMP; GO:0051865|P:protein autoubiquitination|IMP; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(134969,'Experimental MF/BP Leaf Term GOA',NULL,1371,NULL,'GO:0044344|P:cellular response to fibroblast growth factor stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(134970,'Experimental MF/BP Leaf Term GOA',NULL,1372,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(134971,'Experimental MF/BP Leaf Term GOA',NULL,1376,NULL,'GO:0035970|P:peptidyl-threonine dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(134972,'Experimental MF/BP Leaf Term GOA',NULL,1378,NULL,'GO:1990869|P:cellular response to chemokine|IMP; GO:0090027|P:negative regulation of monocyte chemotaxis|IMP; GO:1903753|P:negative regulation of p38MAPK cascade|IMP',NULL,NULL,NULL,NULL,NULL),(134973,'Experimental MF/BP Leaf Term GOA',NULL,1379,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0070317|P:negative regulation of G0 to G1 transition|IDA',NULL,NULL,NULL,NULL,NULL),(134974,'Experimental MF/BP Leaf Term GOA',NULL,1380,NULL,'GO:0005109|F:frizzled binding|IPI; GO:0021915|P:neural tube development|IEP; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(134975,'Experimental MF/BP Leaf Term GOA',NULL,1383,NULL,'GO:0018401|P:peptidyl-proline hydroxylation to 4-hydroxy-L-proline|IDA',NULL,NULL,NULL,NULL,NULL),(134976,'Experimental MF/BP Leaf Term GOA',NULL,1386,NULL,'GO:0005524|F:ATP binding|IDA; GO:0005158|F:insulin receptor binding|IDA; GO:0004528|F:phosphodiesterase I activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0030643|P:cellular phosphate ion homeostasis|IDA; GO:0032869|P:cellular response to insulin stimulus|IDA; GO:0030505|P:inorganic diphosphate transport|IDA; GO:0046325|P:negative regulation of glucose import|IDA; GO:0045719|P:negative regulation of glycogen biosynthetic process|IDA; GO:0030730|P:sequestering of triglyceride|IDA',NULL,NULL,NULL,NULL,NULL),(134977,'Experimental MF/BP Leaf Term GOA',NULL,1387,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(134978,'Experimental MF/BP Leaf Term GOA',NULL,1391,NULL,'GO:0015012|P:heparan sulfate proteoglycan biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(134979,'Experimental MF/BP Leaf Term GOA',NULL,1405,NULL,'GO:1904058|P:positive regulation of sensory perception of pain|IMP',NULL,NULL,NULL,NULL,NULL),(134980,'Experimental MF/BP Leaf Term GOA',NULL,1420,NULL,'GO:0071392|P:cellular response to estradiol stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(134981,'Experimental MF/BP Leaf Term GOA',NULL,1440,NULL,'GO:0003873|F:6-phosphofructo-2-kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(134982,'Experimental MF/BP Leaf Term GOA',NULL,1456,NULL,'GO:0007596|P:blood coagulation|IDA; GO:0051919|P:positive regulation of fibrinolysis|IDA',NULL,NULL,NULL,NULL,NULL),(134983,'Experimental MF/BP Leaf Term GOA',NULL,1457,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(134984,'Experimental MF/BP Leaf Term GOA',NULL,1470,NULL,'GO:0002042|P:cell migration involved in sprouting angiogenesis|IDA; GO:0044344|P:cellular response to fibroblast growth factor stimulus|IMP; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(134985,'Experimental MF/BP Leaf Term GOA',NULL,1471,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(134986,'Experimental MF/BP Leaf Term GOA',NULL,1472,NULL,'GO:0008198|F:ferrous iron binding|IDA; GO:0019826|F:oxygen sensor activity|IDA; GO:0045454|P:cell redox homeostasis|IDA; GO:0018401|P:peptidyl-proline hydroxylation to 4-hydroxy-L-proline|IDA',NULL,NULL,NULL,NULL,NULL),(134987,'Experimental MF/BP Leaf Term GOA',NULL,1475,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(134988,'Experimental MF/BP Leaf Term GOA',NULL,1477,NULL,'GO:0005005|F:transmembrane-ephrin receptor activity|IDA; GO:0090630|P:activation of GTPase activity|IDA; GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(134989,'Experimental MF/BP Leaf Term GOA',NULL,1480,NULL,'GO:0008310|F:single-stranded DNA 3\'-5\' exodeoxyribonuclease activity|IDA',NULL,NULL,NULL,NULL,NULL),(134990,'Experimental MF/BP Leaf Term GOA',NULL,1482,NULL,'GO:0051908|F:double-stranded DNA 5\'-3\' exodeoxyribonuclease activity|IDA; GO:0045145|F:single-stranded DNA 5\'-3\' exodeoxyribonuclease activity|IDA',NULL,NULL,NULL,NULL,NULL),(134991,'Experimental MF/BP Leaf Term GOA',NULL,1484,NULL,'GO:0043928|P:exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|IMP',NULL,NULL,NULL,NULL,NULL),(134992,'Experimental MF/BP Leaf Term GOA',NULL,1485,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0015012|P:heparan sulfate proteoglycan biosynthetic process|IMP; GO:0015014|P:heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(134993,'Experimental MF/BP Leaf Term GOA',NULL,1487,NULL,'GO:0050908|P:detection of light stimulus involved in visual perception|IMP',NULL,NULL,NULL,NULL,NULL),(134994,'Experimental MF/BP Leaf Term GOA',NULL,1492,NULL,'GO:0051895|P:negative regulation of focal adhesion assembly|IMP',NULL,NULL,NULL,NULL,NULL),(134995,'Experimental MF/BP Leaf Term GOA',NULL,1497,NULL,'GO:0003810|F:protein-glutamine gamma-glutamyltransferase activity|IDA; GO:0072378|P:blood coagulation, fibrin clot formation|IDA',NULL,NULL,NULL,NULL,NULL),(134996,'Experimental MF/BP Leaf Term GOA',NULL,1501,NULL,'GO:0045022|P:early endosome to late endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(134997,'Experimental MF/BP Leaf Term GOA',NULL,1547,NULL,'GO:0003873|F:6-phosphofructo-2-kinase activity|EXP; GO:0004331|F:fructose-2,6-bisphosphate 2-phosphatase activity|IDA; GO:0006003|P:fructose 2,6-bisphosphate metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(134998,'Experimental MF/BP Leaf Term GOA',NULL,1548,NULL,'GO:0003743|F:translation initiation factor activity|IMP',NULL,NULL,NULL,NULL,NULL),(134999,'Experimental MF/BP Leaf Term GOA',NULL,1550,NULL,'GO:0007183|P:SMAD protein complex assembly|IDA; GO:0007181|P:transforming growth factor beta receptor complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135000,'Experimental MF/BP Leaf Term GOA',NULL,1551,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135001,'Experimental MF/BP Leaf Term GOA',NULL,1552,NULL,'GO:0014003|P:oligodendrocyte development|IMP; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135002,'Experimental MF/BP Leaf Term GOA',NULL,1555,NULL,'GO:0019367|P:fatty acid elongation, saturated fatty acid|IDA',NULL,NULL,NULL,NULL,NULL),(135003,'Experimental MF/BP Leaf Term GOA',NULL,1559,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(135004,'Experimental MF/BP Leaf Term GOA',NULL,1563,NULL,'GO:0000070|P:mitotic sister chromatid segregation|IMP',NULL,NULL,NULL,NULL,NULL),(135005,'Experimental MF/BP Leaf Term GOA',NULL,1565,NULL,'GO:0050313|F:sulfur dioxygenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135006,'Experimental MF/BP Leaf Term GOA',NULL,1568,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(135007,'Experimental MF/BP Leaf Term GOA',NULL,1569,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(135008,'Experimental MF/BP Leaf Term GOA',NULL,1571,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(135009,'Experimental MF/BP Leaf Term GOA',NULL,1573,NULL,'GO:0019992|F:diacylglycerol binding|IMP; GO:0031210|F:phosphatidylcholine binding|IMP; GO:0001786|F:phosphatidylserine binding|IMP; GO:0042803|F:protein homodimerization activity|IMP; GO:0008270|F:zinc ion binding|IMP; GO:0090630|P:activation of GTPase activity|IDA; GO:1902715|P:positive regulation of interferon-gamma secretion|IMP',NULL,NULL,NULL,NULL,NULL),(135010,'Experimental MF/BP Leaf Term GOA',NULL,1576,NULL,'GO:0032211|P:negative regulation of telomere maintenance via telomerase|IMP; GO:0071035|P:nuclear polyadenylation-dependent rRNA catabolic process|IMP; GO:0071048|P:nuclear retention of unspliced pre-mRNA at the site of transcription|IMP',NULL,NULL,NULL,NULL,NULL),(135011,'Experimental MF/BP Leaf Term GOA',NULL,1579,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0015012|P:heparan sulfate proteoglycan biosynthetic process|IDA; GO:0015014|P:heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(135012,'Experimental MF/BP Leaf Term GOA',NULL,1580,NULL,'GO:0016576|P:histone dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135013,'Experimental MF/BP Leaf Term GOA',NULL,1582,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135014,'Experimental MF/BP Leaf Term GOA',NULL,1592,NULL,'GO:0014003|P:oligodendrocyte development|IMP; GO:0001541|P:ovarian follicle development|IMP; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135015,'Experimental MF/BP Leaf Term GOA',NULL,1594,NULL,'GO:0034498|P:early endosome to Golgi transport|IMP; GO:0090160|P:Golgi to lysosome transport|IMP; GO:0086036|P:regulation of cardiac muscle cell membrane potential|IGI',NULL,NULL,NULL,NULL,NULL),(135016,'Experimental MF/BP Leaf Term GOA',NULL,1595,NULL,'GO:0003743|F:translation initiation factor activity|IDA; GO:0075522|P:IRES-dependent viral translational initiation|IDA; GO:0075525|P:viral translational termination-reinitiation|IDA',NULL,NULL,NULL,NULL,NULL),(135017,'Experimental MF/BP Leaf Term GOA',NULL,1597,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IDA',NULL,NULL,NULL,NULL,NULL),(135018,'Experimental MF/BP Leaf Term GOA',NULL,1603,NULL,'GO:0003151|P:outflow tract morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135019,'Experimental MF/BP Leaf Term GOA',NULL,1605,NULL,'GO:0051539|F:4 iron, 4 sulfur cluster binding|IDA; GO:0004174|F:electron-transferring-flavoprotein dehydrogenase activity|IDA; GO:0033539|P:fatty acid beta-oxidation using acyl-CoA dehydrogenase|IMP',NULL,NULL,NULL,NULL,NULL),(135020,'Experimental MF/BP Leaf Term GOA',NULL,1608,NULL,'GO:0030578|P:PML body organization|IDA; GO:0061614|P:pri-miRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(135021,'Experimental MF/BP Leaf Term GOA',NULL,1610,NULL,'GO:0071425|P:hematopoietic stem cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(135022,'Experimental MF/BP Leaf Term GOA',NULL,1611,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(135023,'Experimental MF/BP Leaf Term GOA',NULL,1612,NULL,'GO:1904736|P:negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase|IMP',NULL,NULL,NULL,NULL,NULL),(135024,'Experimental MF/BP Leaf Term GOA',NULL,1616,NULL,'GO:0043928|P:exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|IMP; GO:0071035|P:nuclear polyadenylation-dependent rRNA catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(135025,'Experimental MF/BP Leaf Term GOA',NULL,1617,NULL,'GO:0022617|P:extracellular matrix disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(135026,'Experimental MF/BP Leaf Term GOA',NULL,1619,NULL,'GO:0016576|P:histone dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135027,'Experimental MF/BP Leaf Term GOA',NULL,1621,NULL,'GO:0003334|P:keratinocyte development|IMP',NULL,NULL,NULL,NULL,NULL),(135028,'Experimental MF/BP Leaf Term GOA',NULL,1623,NULL,'GO:0046976|F:histone methyltransferase activity (H3-K27 specific)|IDA; GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0048387|P:negative regulation of retinoic acid receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135029,'Experimental MF/BP Leaf Term GOA',NULL,1627,NULL,'GO:0031492|F:nucleosomal DNA binding|IDA; GO:0000979|F:RNA polymerase II core promoter sequence-specific DNA binding|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA; GO:0071392|P:cellular response to estradiol stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(135030,'Experimental MF/BP Leaf Term GOA',NULL,1629,NULL,'GO:0007596|P:blood coagulation|IDA',NULL,NULL,NULL,NULL,NULL),(135031,'Experimental MF/BP Leaf Term GOA',NULL,1631,NULL,'GO:0080019|F:fatty-acyl-CoA reductase (alcohol-forming) activity|IDA; GO:0008611|P:ether lipid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135032,'Experimental MF/BP Leaf Term GOA',NULL,1632,NULL,'GO:0006335|P:DNA replication-dependent nucleosome assembly|IDA; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(135033,'Experimental MF/BP Leaf Term GOA',NULL,1633,NULL,'GO:0035473|F:lipase binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:0030970|P:retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(135034,'Experimental MF/BP Leaf Term GOA',NULL,1636,NULL,'GO:0017108|F:5\'-flap endonuclease activity|IDA',NULL,NULL,NULL,NULL,NULL),(135035,'Experimental MF/BP Leaf Term GOA',NULL,1639,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071276|P:cellular response to cadmium ion|IMP; GO:0071392|P:cellular response to estradiol stimulus|IDA; GO:0038083|P:peptidyl-tyrosine autophosphorylation|IMP; GO:0010750|P:positive regulation of nitric oxide mediated signal transduction|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IMP; GO:1900020|P:positive regulation of protein kinase C activity|IDA',NULL,NULL,NULL,NULL,NULL),(135036,'Experimental MF/BP Leaf Term GOA',NULL,1642,NULL,'GO:0002039|F:p53 binding|IPI',NULL,NULL,NULL,NULL,NULL),(135037,'Experimental MF/BP Leaf Term GOA',NULL,1643,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0075522|P:IRES-dependent viral translational initiation|IDA',NULL,NULL,NULL,NULL,NULL),(135038,'Experimental MF/BP Leaf Term GOA',NULL,1645,NULL,'GO:0031704|F:apelin receptor binding|IDA; GO:0060183|P:apelin receptor signaling pathway|IDA; GO:1904022|P:positive regulation of G protein-coupled receptor internalization|IMP; GO:1901165|P:positive regulation of trophoblast cell migration|IMP',NULL,NULL,NULL,NULL,NULL),(135039,'Experimental MF/BP Leaf Term GOA',NULL,1646,NULL,'GO:0009922|F:fatty acid elongase activity|EXP; GO:0034626|P:fatty acid elongation, polyunsaturated fatty acid|IDA; GO:0019367|P:fatty acid elongation, saturated fatty acid|IDA; GO:0042761|P:very long-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135040,'Experimental MF/BP Leaf Term GOA',NULL,1652,NULL,'GO:0034056|F:estrogen response element binding|IDA; GO:0038052|F:RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding|IDA; GO:0071392|P:cellular response to estradiol stimulus|IDA; GO:0030520|P:intracellular estrogen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135041,'Experimental MF/BP Leaf Term GOA',NULL,1656,NULL,'GO:0070182|F:DNA polymerase binding|IPI; GO:0070034|F:telomerase RNA binding|IPI',NULL,NULL,NULL,NULL,NULL),(135042,'Experimental MF/BP Leaf Term GOA',NULL,1657,NULL,'GO:0004771|F:sterol esterase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135043,'Experimental MF/BP Leaf Term GOA',NULL,1660,NULL,'GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(135044,'Experimental MF/BP Leaf Term GOA',NULL,1662,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP',NULL,NULL,NULL,NULL,NULL),(135045,'Experimental MF/BP Leaf Term GOA',NULL,1678,NULL,'GO:0099041|P:vesicle tethering to Golgi|IDA',NULL,NULL,NULL,NULL,NULL),(135046,'Experimental MF/BP Leaf Term GOA',NULL,1680,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0002542|P:Factor XII activation|IDA; GO:0002353|P:plasma kallikrein-kinin cascade|IDA; GO:0051919|P:positive regulation of fibrinolysis|IDA; GO:0010756|P:positive regulation of plasminogen activation|IDA; GO:0016540|P:protein autoprocessing|IDA',NULL,NULL,NULL,NULL,NULL),(135047,'Experimental MF/BP Leaf Term GOA',NULL,1683,NULL,'GO:0043539|F:protein serine/threonine kinase activator activity|IDA; GO:0070166|P:enamel mineralization|IMP; GO:0044691|P:tooth eruption|IMP',NULL,NULL,NULL,NULL,NULL),(135048,'Experimental MF/BP Leaf Term GOA',NULL,1690,NULL,'GO:0005524|F:ATP binding|IDA; GO:0043295|F:glutathione binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135049,'Experimental MF/BP Leaf Term GOA',NULL,1696,NULL,'GO:0071456|P:cellular response to hypoxia|IDA; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(135050,'Experimental MF/BP Leaf Term GOA',NULL,1700,NULL,'GO:0016208|F:AMP binding|IDA; GO:0042132|F:fructose 1,6-bisphosphate 1-phosphatase activity|IDA; GO:0071286|P:cellular response to magnesium ion|IDA; GO:0006094|P:gluconeogenesis|IMP; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(135051,'Experimental MF/BP Leaf Term GOA',NULL,1707,NULL,'GO:0001540|F:amyloid-beta binding|IDA; GO:1902004|P:positive regulation of amyloid-beta formation|IDA',NULL,NULL,NULL,NULL,NULL),(135052,'Experimental MF/BP Leaf Term GOA',NULL,1715,NULL,'GO:0050699|F:WW domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(135053,'Experimental MF/BP Leaf Term GOA',NULL,1729,NULL,'GO:0003873|F:6-phosphofructo-2-kinase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135054,'Experimental MF/BP Leaf Term GOA',NULL,1730,NULL,'GO:0003873|F:6-phosphofructo-2-kinase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135055,'Experimental MF/BP Leaf Term GOA',NULL,1735,NULL,'GO:0030145|F:manganese ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(135056,'Experimental MF/BP Leaf Term GOA',NULL,1750,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002227|P:innate immune response in mucosa|IDA',NULL,NULL,NULL,NULL,NULL),(135057,'Experimental MF/BP Leaf Term GOA',NULL,1752,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002227|P:innate immune response in mucosa|IDA',NULL,NULL,NULL,NULL,NULL),(135058,'Experimental MF/BP Leaf Term GOA',NULL,1753,NULL,'GO:0089720|F:caspase binding|IPI; GO:0035877|F:death effector domain binding|IPI; GO:0097202|P:activation of cysteine-type endopeptidase activity|IDA; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0097527|P:necroptotic signaling pathway|IMP; GO:0060340|P:positive regulation of type I interferon-mediated signaling pathway|IMP; GO:0036462|P:TRAIL-activated apoptotic signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135059,'Experimental MF/BP Leaf Term GOA',NULL,1760,NULL,'GO:0008432|F:JUN kinase binding|IDA; GO:0042169|F:SH2 domain binding|IPI; GO:0048013|P:ephrin receptor signaling pathway|IDA; GO:0007229|P:integrin-mediated signaling pathway|IDA; GO:2000811|P:negative regulation of anoikis|IMP; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135060,'Experimental MF/BP Leaf Term GOA',NULL,1764,NULL,'GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IDA; GO:0044528|P:regulation of mitochondrial mRNA stability|IDA',NULL,NULL,NULL,NULL,NULL),(135061,'Experimental MF/BP Leaf Term GOA',NULL,1766,NULL,'GO:2000048|P:negative regulation of cell-cell adhesion mediated by cadherin|IDA; GO:0023019|P:signal transduction involved in regulation of gene expression|IMP',NULL,NULL,NULL,NULL,NULL),(135062,'Experimental MF/BP Leaf Term GOA',NULL,1767,NULL,'GO:0005004|F:GPI-linked ephrin receptor activity|IDA; GO:0071300|P:cellular response to retinoic acid|IMP; GO:0048013|P:ephrin receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135063,'Experimental MF/BP Leaf Term GOA',NULL,1776,NULL,'GO:0043928|P:exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|IMP',NULL,NULL,NULL,NULL,NULL),(135064,'Experimental MF/BP Leaf Term GOA',NULL,1789,NULL,'GO:1905053|P:positive regulation of base-excision repair|IDA',NULL,NULL,NULL,NULL,NULL),(135065,'Experimental MF/BP Leaf Term GOA',NULL,1796,NULL,'GO:0003688|F:DNA replication origin binding|IDA',NULL,NULL,NULL,NULL,NULL),(135066,'Experimental MF/BP Leaf Term GOA',NULL,1797,NULL,'GO:0004865|F:protein serine/threonine phosphatase inhibitor activity|IMP',NULL,NULL,NULL,NULL,NULL),(135067,'Experimental MF/BP Leaf Term GOA',NULL,1802,NULL,'GO:0051117|F:ATPase binding|IPI; GO:1990259|F:histone-glutamine methyltransferase activity|IDA; GO:0001094|F:TFIID-class transcription factor complex binding|IPI; GO:1990258|P:histone glutamine methylation|IDA; GO:0048254|P:snoRNA localization|IMP',NULL,NULL,NULL,NULL,NULL),(135068,'Experimental MF/BP Leaf Term GOA',NULL,1803,NULL,'GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135069,'Experimental MF/BP Leaf Term GOA',NULL,1805,NULL,'GO:0001540|F:amyloid-beta binding|IPI; GO:0019864|F:IgG binding|IDA; GO:0019772|F:low-affinity IgG receptor activity|IDA; GO:0038096|P:Fc-gamma receptor signaling pathway involved in phagocytosis|IDA',NULL,NULL,NULL,NULL,NULL),(135070,'Experimental MF/BP Leaf Term GOA',NULL,1808,NULL,'GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0071456|P:cellular response to hypoxia|IDA',NULL,NULL,NULL,NULL,NULL),(135071,'Experimental MF/BP Leaf Term GOA',NULL,1810,NULL,'GO:0070182|F:DNA polymerase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135072,'Experimental MF/BP Leaf Term GOA',NULL,1812,NULL,'GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(135073,'Experimental MF/BP Leaf Term GOA',NULL,1813,NULL,'GO:0051059|F:NF-kappaB binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:0007253|P:cytoplasmic sequestering of NF-kappaB|IMP',NULL,NULL,NULL,NULL,NULL),(135074,'Experimental MF/BP Leaf Term GOA',NULL,1814,NULL,'GO:0018773|F:acetylpyruvate hydrolase activity|IDA; GO:0034545|F:fumarylpyruvate hydrolase activity|IDA; GO:0008948|F:oxaloacetate decarboxylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135075,'Experimental MF/BP Leaf Term GOA',NULL,1818,NULL,'GO:0006335|P:DNA replication-dependent nucleosome assembly|IDA; GO:0045653|P:negative regulation of megakaryocyte differentiation|IDA; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(135076,'Experimental MF/BP Leaf Term GOA',NULL,1819,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:0051562|P:negative regulation of mitochondrial calcium ion concentration|IDA',NULL,NULL,NULL,NULL,NULL),(135077,'Experimental MF/BP Leaf Term GOA',NULL,1820,NULL,'GO:0043297|P:apical junction assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135078,'Experimental MF/BP Leaf Term GOA',NULL,1824,NULL,'GO:0051082|F:unfolded protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(135079,'Experimental MF/BP Leaf Term GOA',NULL,1827,NULL,'GO:0004334|F:fumarylacetoacetase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135080,'Experimental MF/BP Leaf Term GOA',NULL,1840,NULL,'GO:0005070|F:SH3/SH2 adaptor activity|IPI',NULL,NULL,NULL,NULL,NULL),(135081,'Experimental MF/BP Leaf Term GOA',NULL,1848,NULL,'GO:0035615|F:clathrin adaptor activity|IMP; GO:0008022|F:protein C-terminus binding|IPI; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IMP; GO:2000370|P:positive regulation of clathrin-dependent endocytosis|IMP; GO:2000643|P:positive regulation of early endosome to late endosome transport|IMP; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0060391|P:positive regulation of SMAD protein signal transduction|IDA; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IDA; GO:2000096|P:positive regulation of Wnt signaling pathway, planar cell polarity pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135082,'Experimental MF/BP Leaf Term GOA',NULL,1849,NULL,'GO:0034046|F:poly(G) binding|IMP; GO:0008266|F:poly(U) RNA binding|IMP',NULL,NULL,NULL,NULL,NULL),(135083,'Experimental MF/BP Leaf Term GOA',NULL,1850,NULL,'GO:0050681|F:androgen receptor binding|IPI; GO:0002039|F:p53 binding|IPI; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071276|P:cellular response to cadmium ion|IDA; GO:0071280|P:cellular response to copper ion|IDA; GO:0072738|P:cellular response to diamide|IDA; GO:1903936|P:cellular response to sodium arsenite|IDA',NULL,NULL,NULL,NULL,NULL),(135084,'Experimental MF/BP Leaf Term GOA',NULL,1851,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(135085,'Experimental MF/BP Leaf Term GOA',NULL,1853,NULL,'GO:0030890|P:positive regulation of B cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(135086,'Experimental MF/BP Leaf Term GOA',NULL,1854,NULL,'GO:0007080|P:mitotic metaphase plate congression|IMP; GO:0031536|P:positive regulation of exit from mitosis|IMP',NULL,NULL,NULL,NULL,NULL),(135087,'Experimental MF/BP Leaf Term GOA',NULL,1855,NULL,'GO:0044331|P:cell-cell adhesion mediated by cadherin|IDA; GO:0090675|P:intermicrovillar adhesion|IMP; GO:0060243|P:negative regulation of cell growth involved in contact inhibition|IDA',NULL,NULL,NULL,NULL,NULL),(135088,'Experimental MF/BP Leaf Term GOA',NULL,1857,NULL,'GO:0004861|F:cyclin-dependent protein serine/threonine kinase inhibitor activity|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IDA',NULL,NULL,NULL,NULL,NULL),(135089,'Experimental MF/BP Leaf Term GOA',NULL,1860,NULL,'GO:0004126|F:cytidine deaminase activity|IDA; GO:0061676|F:importin-alpha family protein binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0008270|F:zinc ion binding|IMP; GO:0009972|P:cytidine deamination|IDA; GO:0070383|P:DNA cytosine deamination|IDA',NULL,NULL,NULL,NULL,NULL),(135090,'Experimental MF/BP Leaf Term GOA',NULL,1862,NULL,'GO:0120092|F:crotonyl-CoA hydratase activity|IDA; GO:0120094|P:negative regulation of peptidyl-lysine crotonylation|IDA',NULL,NULL,NULL,NULL,NULL),(135091,'Experimental MF/BP Leaf Term GOA',NULL,1863,NULL,'GO:0004861|F:cyclin-dependent protein serine/threonine kinase inhibitor activity|IDA; GO:0051059|F:NF-kappaB binding|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IDA; GO:2000774|P:positive regulation of cellular senescence|IMP; GO:0090399|P:replicative senescence|IMP; GO:0035986|P:senescence-associated heterochromatin focus assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135092,'Experimental MF/BP Leaf Term GOA',NULL,1864,NULL,'GO:2000120|P:positive regulation of sodium-dependent phosphate transport|IDA; GO:1990440|P:positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress|IDA',NULL,NULL,NULL,NULL,NULL),(135093,'Experimental MF/BP Leaf Term GOA',NULL,1867,NULL,'GO:0008061|F:chitin binding|IDA',NULL,NULL,NULL,NULL,NULL),(135094,'Experimental MF/BP Leaf Term GOA',NULL,1868,NULL,'GO:0034186|F:apolipoprotein A-I binding|IPI; GO:0051087|F:chaperone binding|IPI; GO:0008035|F:high-density lipoprotein particle binding|IDA; GO:0001530|F:lipopolysaccharide binding|IDA; GO:0002039|F:p53 binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0002368|P:B cell cytokine production|IDA; GO:0048291|P:isotype switching to IgG isotypes|IDA; GO:0042026|P:protein refolding|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(135095,'Experimental MF/BP Leaf Term GOA',NULL,1870,NULL,'GO:0071277|P:cellular response to calcium ion|IDA; GO:0070886|P:positive regulation of calcineurin-NFAT signaling cascade|IDA; GO:0042307|P:positive regulation of protein import into nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(135096,'Experimental MF/BP Leaf Term GOA',NULL,1871,NULL,'GO:0071300|P:cellular response to retinoic acid|IDA; GO:0045654|P:positive regulation of megakaryocyte differentiation|IMP; GO:0032417|P:positive regulation of sodium:proton antiporter activity|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(135097,'Experimental MF/BP Leaf Term GOA',NULL,1875,NULL,'GO:0055131|F:C3HC4-type RING finger domain binding|IPI; GO:0051087|F:chaperone binding|IDA; GO:0030544|F:Hsp70 protein binding|IDA; GO:0050750|F:low-density lipoprotein particle receptor binding|IDA; GO:0030957|F:Tat protein binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0043508|P:negative regulation of JUN kinase activity|IMP; GO:1905259|P:negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135098,'Experimental MF/BP Leaf Term GOA',NULL,1876,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0051082|F:unfolded protein binding|IDA; GO:0042026|P:protein refolding|IDA',NULL,NULL,NULL,NULL,NULL),(135099,'Experimental MF/BP Leaf Term GOA',NULL,1877,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0030544|F:Hsp70 protein binding|IDA; GO:0070628|F:proteasome binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051082|F:unfolded protein binding|IDA; GO:0042026|P:protein refolding|IDA',NULL,NULL,NULL,NULL,NULL),(135100,'Experimental MF/BP Leaf Term GOA',NULL,1879,NULL,'GO:0051087|F:chaperone binding|IPI',NULL,NULL,NULL,NULL,NULL),(135101,'Experimental MF/BP Leaf Term GOA',NULL,1880,NULL,'GO:0051087|F:chaperone binding|IPI',NULL,NULL,NULL,NULL,NULL),(135102,'Experimental MF/BP Leaf Term GOA',NULL,1881,NULL,'GO:0051087|F:chaperone binding|IDA; GO:0051082|F:unfolded protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(135103,'Experimental MF/BP Leaf Term GOA',NULL,1882,NULL,'GO:0051087|F:chaperone binding|IPI',NULL,NULL,NULL,NULL,NULL),(135104,'Experimental MF/BP Leaf Term GOA',NULL,1883,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0044183|F:protein binding involved in protein folding|IDA; GO:0051082|F:unfolded protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(135105,'Experimental MF/BP Leaf Term GOA',NULL,1884,NULL,'GO:0051787|F:misfolded protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(135106,'Experimental MF/BP Leaf Term GOA',NULL,1886,NULL,'GO:0030544|F:Hsp70 protein binding|IPI; GO:0061649|F:ubiquitin modification-dependent histone binding|IDA',NULL,NULL,NULL,NULL,NULL),(135107,'Experimental MF/BP Leaf Term GOA',NULL,1887,NULL,'GO:1903912|P:negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(135108,'Experimental MF/BP Leaf Term GOA',NULL,1890,NULL,'GO:0051085|P:chaperone cofactor-dependent protein refolding|IDA',NULL,NULL,NULL,NULL,NULL),(135109,'Experimental MF/BP Leaf Term GOA',NULL,1891,NULL,'GO:0030544|F:Hsp70 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(135110,'Experimental MF/BP Leaf Term GOA',NULL,1892,NULL,'GO:0035176|P:social behavior|IEP',NULL,NULL,NULL,NULL,NULL),(135111,'Experimental MF/BP Leaf Term GOA',NULL,1895,NULL,'GO:0003910|F:DNA ligase (ATP) activity|IDA; GO:0006288|P:base-excision repair, DNA ligation|IDA; GO:0097681|P:double-strand break repair via alternative nonhomologous end joining|IGI; GO:0043504|P:mitochondrial DNA repair|IMP; GO:0090298|P:negative regulation of mitochondrial DNA replication|IMP',NULL,NULL,NULL,NULL,NULL),(135112,'Experimental MF/BP Leaf Term GOA',NULL,1897,NULL,'GO:0003910|F:DNA ligase (ATP) activity|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0097680|P:double-strand break repair via classical nonhomologous end joining|IMP; GO:0006297|P:nucleotide-excision repair, DNA gap filling|IDA',NULL,NULL,NULL,NULL,NULL),(135113,'Experimental MF/BP Leaf Term GOA',NULL,1903,NULL,'GO:0006398|P:mRNA 3\'-end processing by stem-loop binding and cleavage|IDA',NULL,NULL,NULL,NULL,NULL),(135114,'Experimental MF/BP Leaf Term GOA',NULL,1910,NULL,'GO:0000338|P:protein deneddylation|IDA',NULL,NULL,NULL,NULL,NULL),(135115,'Experimental MF/BP Leaf Term GOA',NULL,1911,NULL,'GO:0000338|P:protein deneddylation|IDA',NULL,NULL,NULL,NULL,NULL),(135116,'Experimental MF/BP Leaf Term GOA',NULL,1912,NULL,'GO:2000435|P:negative regulation of protein neddylation|IMP',NULL,NULL,NULL,NULL,NULL),(135117,'Experimental MF/BP Leaf Term GOA',NULL,1913,NULL,'GO:0000338|P:protein deneddylation|IDA',NULL,NULL,NULL,NULL,NULL),(135118,'Experimental MF/BP Leaf Term GOA',NULL,1914,NULL,'GO:0010499|P:proteasomal ubiquitin-independent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135119,'Experimental MF/BP Leaf Term GOA',NULL,1928,NULL,'GO:0051721|F:protein phosphatase 2A binding|IDA',NULL,NULL,NULL,NULL,NULL),(135120,'Experimental MF/BP Leaf Term GOA',NULL,1936,NULL,'GO:1900264|P:positive regulation of DNA-directed DNA polymerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135121,'Experimental MF/BP Leaf Term GOA',NULL,1940,NULL,'GO:0015184|F:L-cystine transmembrane transporter activity|IMP; GO:0007420|P:brain development|IMP',NULL,NULL,NULL,NULL,NULL),(135122,'Experimental MF/BP Leaf Term GOA',NULL,1941,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0086073|P:bundle of His cell-Purkinje myocyte adhesion involved in cell communication|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(135123,'Experimental MF/BP Leaf Term GOA',NULL,1943,NULL,'GO:0080182|P:histone H3-K4 trimethylation|IMP; GO:1900364|P:negative regulation of mRNA polyadenylation|IMP; GO:0032968|P:positive regulation of transcription elongation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(135124,'Experimental MF/BP Leaf Term GOA',NULL,1946,NULL,'GO:0030165|F:PDZ domain binding|IDA; GO:0097110|F:scaffold protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(135125,'Experimental MF/BP Leaf Term GOA',NULL,1950,NULL,'GO:0020037|F:heme binding|IDA; GO:0004509|F:steroid 21-monooxygenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135126,'Experimental MF/BP Leaf Term GOA',NULL,1951,NULL,'GO:0035497|F:cAMP response element binding|IMP',NULL,NULL,NULL,NULL,NULL),(135127,'Experimental MF/BP Leaf Term GOA',NULL,1959,NULL,'GO:0007565|P:female pregnancy|IDA; GO:0051461|P:positive regulation of corticotropin secretion|IDA; GO:0051464|P:positive regulation of cortisol secretion|IDA; GO:0001963|P:synaptic transmission, dopaminergic|IDA',NULL,NULL,NULL,NULL,NULL),(135128,'Experimental MF/BP Leaf Term GOA',NULL,1960,NULL,'GO:0046875|F:ephrin receptor binding|IPI; GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0042169|F:SH2 domain binding|IPI; GO:0017124|F:SH3 domain binding|IPI; GO:0005070|F:SH3/SH2 adaptor activity|IDA; GO:0048013|P:ephrin receptor signaling pathway|IDA; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP; GO:0071538|P:SH2 domain-mediated complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135129,'Experimental MF/BP Leaf Term GOA',NULL,1964,NULL,'GO:0001540|F:amyloid-beta binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0051082|F:unfolded protein binding|IPI; GO:0071480|P:cellular response to gamma radiation|IMP; GO:1905907|P:negative regulation of amyloid fibril formation|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(135130,'Experimental MF/BP Leaf Term GOA',NULL,1969,NULL,'GO:0005011|F:macrophage colony-stimulating factor receptor activity|IMP; GO:0036006|P:cellular response to macrophage colony-stimulating factor stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(135131,'Experimental MF/BP Leaf Term GOA',NULL,1974,NULL,'GO:0032060|P:bleb assembly|IDA; GO:0007566|P:embryo implantation|IMP; GO:2001046|P:positive regulation of integrin-mediated signaling pathway|IDA; GO:0034394|P:protein localization to cell surface|IMP',NULL,NULL,NULL,NULL,NULL),(135132,'Experimental MF/BP Leaf Term GOA',NULL,1976,NULL,'GO:0005086|F:ARF guanyl-nucleotide exchange factor activity|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(135133,'Experimental MF/BP Leaf Term GOA',NULL,1978,NULL,'GO:0001618|F:virus receptor activity|IDA; GO:2000563|P:positive regulation of CD4-positive, alpha-beta T cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(135134,'Experimental MF/BP Leaf Term GOA',NULL,1984,NULL,'GO:0020037|F:heme binding|IDA',NULL,NULL,NULL,NULL,NULL),(135135,'Experimental MF/BP Leaf Term GOA',NULL,1985,NULL,'GO:0020037|F:heme binding|IDA; GO:0008398|F:sterol 14-demethylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135136,'Experimental MF/BP Leaf Term GOA',NULL,1986,NULL,'GO:0006398|P:mRNA 3\'-end processing by stem-loop binding and cleavage|IDA',NULL,NULL,NULL,NULL,NULL),(135137,'Experimental MF/BP Leaf Term GOA',NULL,1990,NULL,'GO:0048749|P:compound eye development|IMP',NULL,NULL,NULL,NULL,NULL),(135138,'Experimental MF/BP Leaf Term GOA',NULL,2005,NULL,'GO:0008307|F:structural constituent of muscle|IMP; GO:0031433|F:telethonin binding|IDA; GO:0060048|P:cardiac muscle contraction|IMP; GO:0035995|P:detection of muscle stretch|IMP; GO:1903919|P:negative regulation of actin filament severing|IDA; GO:1903920|P:positive regulation of actin filament severing|IDA',NULL,NULL,NULL,NULL,NULL),(135139,'Experimental MF/BP Leaf Term GOA',NULL,2008,NULL,'GO:0050829|P:defense response to Gram-negative bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(135140,'Experimental MF/BP Leaf Term GOA',NULL,2021,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(135141,'Experimental MF/BP Leaf Term GOA',NULL,2023,NULL,'GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0070973|P:protein localization to endoplasmic reticulum exit site|IMP',NULL,NULL,NULL,NULL,NULL),(135142,'Experimental MF/BP Leaf Term GOA',NULL,2027,NULL,'GO:1990448|F:exon-exon junction complex binding|IDA; GO:0043023|F:ribosomal large subunit binding|IDA; GO:1990120|P:messenger ribonucleoprotein complex assembly|IDA; GO:0110104|P:mRNA alternative polyadenylation|IMP; GO:0098789|P:pre-mRNA cleavage required for polyadenylation|IMP; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(135143,'Experimental MF/BP Leaf Term GOA',NULL,2028,NULL,'GO:0071277|P:cellular response to calcium ion|IDA',NULL,NULL,NULL,NULL,NULL),(135144,'Experimental MF/BP Leaf Term GOA',NULL,2034,NULL,'GO:0000338|P:protein deneddylation|IDA',NULL,NULL,NULL,NULL,NULL),(135145,'Experimental MF/BP Leaf Term GOA',NULL,2039,NULL,'GO:0007565|P:female pregnancy|IEP',NULL,NULL,NULL,NULL,NULL),(135146,'Experimental MF/BP Leaf Term GOA',NULL,2048,NULL,'GO:0048386|P:positive regulation of retinoic acid receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135147,'Experimental MF/BP Leaf Term GOA',NULL,2049,NULL,'GO:0098505|F:G-rich strand telomeric DNA binding|IDA; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(135148,'Experimental MF/BP Leaf Term GOA',NULL,2050,NULL,'GO:0043035|F:chromatin insulator sequence binding|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0016584|P:nucleosome positioning|IDA',NULL,NULL,NULL,NULL,NULL),(135149,'Experimental MF/BP Leaf Term GOA',NULL,2051,NULL,'GO:0008420|F:RNA polymerase II CTD heptapeptide repeat phosphatase activity|IDA; GO:0030957|F:Tat protein binding|IPI; GO:0001096|F:TFIIF-class transcription factor complex binding|IPI; GO:0010458|P:exit from mitosis|IMP; GO:0043923|P:positive regulation by host of viral transcription|IDA',NULL,NULL,NULL,NULL,NULL),(135150,'Experimental MF/BP Leaf Term GOA',NULL,2052,NULL,'GO:0008420|F:RNA polymerase II CTD heptapeptide repeat phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135151,'Experimental MF/BP Leaf Term GOA',NULL,2053,NULL,'GO:0008420|F:RNA polymerase II CTD heptapeptide repeat phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135152,'Experimental MF/BP Leaf Term GOA',NULL,2054,NULL,'GO:0030889|P:negative regulation of B cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(135153,'Experimental MF/BP Leaf Term GOA',NULL,2055,NULL,'GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(135154,'Experimental MF/BP Leaf Term GOA',NULL,2058,NULL,'GO:0045294|F:alpha-catenin binding|IPI; GO:0030331|F:estrogen receptor binding|IPI; GO:0070411|F:I-SMAD binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0001085|F:RNA polymerase II transcription factor binding|IDA; GO:0044334|P:canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition|IMP; GO:0071681|P:cellular response to indole-3-methanol|IDA; GO:1904798|P:positive regulation of core promoter binding|IDA; GO:0034394|P:protein localization to cell surface|IMP',NULL,NULL,NULL,NULL,NULL),(135155,'Experimental MF/BP Leaf Term GOA',NULL,2059,NULL,'GO:0001890|P:placenta development|IDA',NULL,NULL,NULL,NULL,NULL),(135156,'Experimental MF/BP Leaf Term GOA',NULL,2060,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IDA',NULL,NULL,NULL,NULL,NULL),(135157,'Experimental MF/BP Leaf Term GOA',NULL,2063,NULL,'GO:0005544|F:calcium-dependent phospholipid binding|IDA; GO:0071277|P:cellular response to calcium ion|IDA',NULL,NULL,NULL,NULL,NULL),(135158,'Experimental MF/BP Leaf Term GOA',NULL,2064,NULL,'GO:0010430|P:fatty acid omega-oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(135159,'Experimental MF/BP Leaf Term GOA',NULL,2067,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0010457|P:centriole-centriole cohesion|IMP; GO:1905515|P:non-motile cilium assembly|IMP; GO:1904781|P:positive regulation of protein localization to centrosome|IMP',NULL,NULL,NULL,NULL,NULL),(135160,'Experimental MF/BP Leaf Term GOA',NULL,2068,NULL,'GO:0005086|F:ARF guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135161,'Experimental MF/BP Leaf Term GOA',NULL,2071,NULL,'GO:2001033|P:negative regulation of double-strand break repair via nonhomologous end joining|IDA',NULL,NULL,NULL,NULL,NULL),(135162,'Experimental MF/BP Leaf Term GOA',NULL,2079,NULL,'GO:0051990|F:(R)-2-hydroxyglutarate dehydrogenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135163,'Experimental MF/BP Leaf Term GOA',NULL,2087,NULL,'GO:0007596|P:blood coagulation|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(135164,'Experimental MF/BP Leaf Term GOA',NULL,2088,NULL,'GO:0033690|P:positive regulation of osteoblast proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(135165,'Experimental MF/BP Leaf Term GOA',NULL,2090,NULL,'GO:1990254|F:keratin filament binding|IDA',NULL,NULL,NULL,NULL,NULL),(135166,'Experimental MF/BP Leaf Term GOA',NULL,2096,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(135167,'Experimental MF/BP Leaf Term GOA',NULL,2100,NULL,'GO:0070840|F:dynein complex binding|IMP; GO:0071910|P:determination of liver left/right asymmetry|IMP; GO:0035469|P:determination of pancreatic left/right asymmetry|IMP; GO:0001947|P:heart looping|IMP; GO:0036159|P:inner dynein arm assembly|IMP; GO:0044458|P:motile cilium assembly|IMP; GO:0036158|P:outer dynein arm assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135168,'Experimental MF/BP Leaf Term GOA',NULL,2101,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IMP; GO:0051838|P:cytolysis by host of symbiont cells|IMP',NULL,NULL,NULL,NULL,NULL),(135169,'Experimental MF/BP Leaf Term GOA',NULL,2102,NULL,'GO:0071889|F:14-3-3 protein binding|IDA; GO:0031434|F:mitogen-activated protein kinase kinase binding|IPI; GO:0031435|F:mitogen-activated protein kinase kinase kinase binding|IPI; GO:0036312|F:phosphatidylinositol 3-kinase regulatory subunit binding|IDA; GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0051721|F:protein phosphatase 2A binding|IDA; GO:0017124|F:SH3 domain binding|IDA; GO:0043184|F:vascular endothelial growth factor receptor 2 binding|IPI; GO:0007257|P:activation of JUN kinase activity|IDA; GO:0071347|P:cellular response to interleukin-1|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:0070317|P:negative regulation of G0 to G1 transition|IDA; GO:0034260|P:negative regulation of GTPase activity|IMP; GO:0014067|P:negative regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0034144|P:negative regulation of toll-like receptor 4 signaling pathway|IDA; GO:0030948|P:negative regulation of vascular endothelial growth factor receptor signaling pathway|IMP; GO:0043497|P:regulation of protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135170,'Experimental MF/BP Leaf Term GOA',NULL,2103,NULL,'GO:0005524|F:ATP binding|IDA; GO:0043522|F:leucine zipper domain binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0071346|P:cellular response to interferon-gamma|IDA',NULL,NULL,NULL,NULL,NULL),(135171,'Experimental MF/BP Leaf Term GOA',NULL,2110,NULL,'GO:0030507|F:spectrin binding|IDA',NULL,NULL,NULL,NULL,NULL),(135172,'Experimental MF/BP Leaf Term GOA',NULL,2111,NULL,'GO:0045504|F:dynein heavy chain binding|IPI; GO:0019003|F:GDP binding|IDA',NULL,NULL,NULL,NULL,NULL),(135173,'Experimental MF/BP Leaf Term GOA',NULL,2113,NULL,'GO:0050080|F:malonyl-CoA decarboxylase activity|IDA; GO:2001294|P:malonyl-CoA catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135174,'Experimental MF/BP Leaf Term GOA',NULL,2115,NULL,'GO:0008401|F:retinoic acid 4-hydroxylase activity|IDA; GO:0001972|F:retinoic acid binding|IDA; GO:0034653|P:retinoic acid catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135175,'Experimental MF/BP Leaf Term GOA',NULL,2116,NULL,'GO:0051059|F:NF-kappaB binding|IPI; GO:0001786|F:phosphatidylserine binding|IDA; GO:0042803|F:protein homodimerization activity|IMP; GO:0071277|P:cellular response to calcium ion|IMP; GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:1903265|P:positive regulation of tumor necrosis factor-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135176,'Experimental MF/BP Leaf Term GOA',NULL,2117,NULL,'GO:0071456|P:cellular response to hypoxia|IDA; GO:0032869|P:cellular response to insulin stimulus|IDA; GO:1900365|P:positive regulation of mRNA polyadenylation|IDA',NULL,NULL,NULL,NULL,NULL),(135177,'Experimental MF/BP Leaf Term GOA',NULL,2122,NULL,'GO:0005086|F:ARF guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135178,'Experimental MF/BP Leaf Term GOA',NULL,2126,NULL,'GO:2000601|P:positive regulation of Arp2/3 complex-mediated actin nucleation|IMP; GO:0016601|P:Rac protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(135179,'Experimental MF/BP Leaf Term GOA',NULL,2130,NULL,'GO:0008494|F:translation activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(135180,'Experimental MF/BP Leaf Term GOA',NULL,2136,NULL,'GO:0090541|F:MIT domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(135181,'Experimental MF/BP Leaf Term GOA',NULL,2140,NULL,'GO:0007250|P:activation of NF-kappaB-inducing kinase activity|IDA; GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135182,'Experimental MF/BP Leaf Term GOA',NULL,2144,NULL,'GO:0097199|F:cysteine-type endopeptidase activity involved in apoptotic signaling pathway|IMP; GO:0017124|F:SH3 domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(135183,'Experimental MF/BP Leaf Term GOA',NULL,2146,NULL,'GO:0010757|P:negative regulation of plasminogen activation|IMP',NULL,NULL,NULL,NULL,NULL),(135184,'Experimental MF/BP Leaf Term GOA',NULL,2147,NULL,'GO:0042134|F:rRNA primary transcript binding|IDA; GO:0006363|P:termination of RNA polymerase I transcription|IDA; GO:0006361|P:transcription initiation from RNA polymerase I promoter|IDA',NULL,NULL,NULL,NULL,NULL),(135185,'Experimental MF/BP Leaf Term GOA',NULL,2148,NULL,'GO:0001786|F:phosphatidylserine binding|IDA; GO:0097320|P:plasma membrane tubulation|IDA',NULL,NULL,NULL,NULL,NULL),(135186,'Experimental MF/BP Leaf Term GOA',NULL,2152,NULL,'GO:0042043|F:neurexin family protein binding|IPI; GO:0003214|P:cardiac left ventricle morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135187,'Experimental MF/BP Leaf Term GOA',NULL,2156,NULL,'GO:1990226|F:histone methyltransferase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135188,'Experimental MF/BP Leaf Term GOA',NULL,2167,NULL,'GO:0043426|F:MRF binding|IDA; GO:0002039|F:p53 binding|IPI; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IMP; GO:0031648|P:protein destabilization|IMP',NULL,NULL,NULL,NULL,NULL),(135189,'Experimental MF/BP Leaf Term GOA',NULL,2174,NULL,'GO:0061575|F:cyclin-dependent protein serine/threonine kinase activator activity|IDA; GO:0005113|F:patched binding|IPI; GO:0007080|P:mitotic metaphase plate congression|IMP',NULL,NULL,NULL,NULL,NULL),(135190,'Experimental MF/BP Leaf Term GOA',NULL,2176,NULL,'GO:0000086|P:G2/M transition of mitotic cell cycle|IDA',NULL,NULL,NULL,NULL,NULL),(135191,'Experimental MF/BP Leaf Term GOA',NULL,2177,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(135192,'Experimental MF/BP Leaf Term GOA',NULL,2178,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0090630|P:activation of GTPase activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0001768|P:establishment of T cell polarity|IDA; GO:0035759|P:mesangial cell-matrix adhesion|IDA; GO:2000669|P:negative regulation of dendritic cell apoptotic process|IDA; GO:1903237|P:negative regulation of leukocyte tethering or rolling|IDA; GO:0051491|P:positive regulation of filopodium assembly|IDA; GO:2000529|P:positive regulation of myeloid dendritic cell chemotaxis|IDA; GO:0090023|P:positive regulation of neutrophil chemotaxis|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(135193,'Experimental MF/BP Leaf Term GOA',NULL,2179,NULL,'GO:0031727|F:CCR2 chemokine receptor binding|IDA; GO:2000464|P:positive regulation of astrocyte chemotaxis|IDA; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135194,'Experimental MF/BP Leaf Term GOA',NULL,2180,NULL,'GO:0010856|F:adenylate cyclase activator activity|IDA; GO:0008179|F:adenylate cyclase binding|IPI; GO:0019855|F:calcium channel inhibitor activity|IDA; GO:0097718|F:disordered domain specific binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:0031997|F:N-terminal myristoylation domain binding|IPI; GO:0031432|F:titin binding|IPI; GO:0005513|P:detection of calcium ion|IMP; GO:0060315|P:negative regulation of ryanodine-sensitive calcium-release channel activity|IDA; GO:0051343|P:positive regulation of cyclic-nucleotide phosphodiesterase activity|IDA; GO:0060316|P:positive regulation of ryanodine-sensitive calcium-release channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(135195,'Experimental MF/BP Leaf Term GOA',NULL,2183,NULL,'GO:0002039|F:p53 binding|IDA',NULL,NULL,NULL,NULL,NULL),(135196,'Experimental MF/BP Leaf Term GOA',NULL,2184,NULL,'GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(135197,'Experimental MF/BP Leaf Term GOA',NULL,2197,NULL,'GO:0044344|P:cellular response to fibroblast growth factor stimulus|IEP; GO:0071346|P:cellular response to interferon-gamma|IEP; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071356|P:cellular response to tumor necrosis factor|IEP; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IDA; GO:0048246|P:macrophage chemotaxis|IDA; GO:0002548|P:monocyte chemotaxis|IDA; GO:2000502|P:negative regulation of natural killer cell chemotaxis|IDA; GO:1905563|P:negative regulation of vascular endothelial cell proliferation|IMP; GO:2000353|P:positive regulation of endothelial cell apoptotic process|IMP; GO:0043491|P:protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135198,'Experimental MF/BP Leaf Term GOA',NULL,2198,NULL,'GO:0004126|F:cytidine deaminase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0009972|P:cytidine deamination|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(135199,'Experimental MF/BP Leaf Term GOA',NULL,2201,NULL,'GO:0097322|F:7SK snRNA binding|IDA; GO:0004693|F:cyclin-dependent protein serine/threonine kinase activity|IDA; GO:0008353|F:RNA polymerase II CTD heptapeptide repeat kinase activity|IDA; GO:0071157|P:negative regulation of cell cycle arrest|IDA; GO:1900364|P:negative regulation of mRNA polyadenylation|IMP; GO:0033129|P:positive regulation of histone phosphorylation|IMP; GO:1903839|P:positive regulation of mRNA 3\'-UTR binding|IDA',NULL,NULL,NULL,NULL,NULL),(135200,'Experimental MF/BP Leaf Term GOA',NULL,2204,NULL,'GO:1902426|P:deactivation of mitotic spindle assembly checkpoint|IMP; GO:1905341|P:negative regulation of protein localization to kinetochore|IMP; GO:2001178|P:positive regulation of mediator complex assembly|IDA; GO:1905342|P:positive regulation of protein localization to kinetochore|IMP',NULL,NULL,NULL,NULL,NULL),(135201,'Experimental MF/BP Leaf Term GOA',NULL,2210,NULL,'GO:0097345|P:mitochondrial outer membrane permeabilization|IMP',NULL,NULL,NULL,NULL,NULL),(135202,'Experimental MF/BP Leaf Term GOA',NULL,2212,NULL,'GO:0070700|F:BMP receptor binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0071773|P:cellular response to BMP stimulus|IMP; GO:0032349|P:positive regulation of aldosterone biosynthetic process|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0060395|P:SMAD protein signal transduction|IDA; GO:0003323|P:type B pancreatic cell development|IDA',NULL,NULL,NULL,NULL,NULL),(135203,'Experimental MF/BP Leaf Term GOA',NULL,2215,NULL,'GO:0070577|F:lysine-acetylated histone binding|IDA; GO:0002039|F:p53 binding|IDA; GO:0008353|F:RNA polymerase II CTD heptapeptide repeat kinase activity|IMP; GO:2001255|P:positive regulation of histone H3-K36 trimethylation|IMP; GO:0032968|P:positive regulation of transcription elongation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(135204,'Experimental MF/BP Leaf Term GOA',NULL,2221,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(135205,'Experimental MF/BP Leaf Term GOA',NULL,2223,NULL,'GO:0008332|F:low voltage-gated calcium channel activity|IDA; GO:0097110|F:scaffold protein binding|IPI; GO:0032342|P:aldosterone biosynthetic process|IMP; GO:0035865|P:cellular response to potassium ion|IEP; GO:0034651|P:cortisol biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(135206,'Experimental MF/BP Leaf Term GOA',NULL,2224,NULL,'GO:0008331|F:high voltage-gated calcium channel activity|IDA; GO:1904646|P:cellular response to amyloid-beta|IDA',NULL,NULL,NULL,NULL,NULL),(135207,'Experimental MF/BP Leaf Term GOA',NULL,2228,NULL,'GO:0007190|P:activation of adenylate cyclase activity|IDA; GO:0019732|P:antifungal humoral response|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:1990408|P:calcitonin gene-related peptide receptor signaling pathway|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0045779|P:negative regulation of bone resorption|IDA; GO:0051482|P:positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135208,'Experimental MF/BP Leaf Term GOA',NULL,2229,NULL,'GO:0097200|F:cysteine-type endopeptidase activity involved in execution phase of apoptosis|IMP; GO:0072734|P:cellular response to staurosporine|IMP',NULL,NULL,NULL,NULL,NULL),(135209,'Experimental MF/BP Leaf Term GOA',NULL,2231,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(135210,'Experimental MF/BP Leaf Term GOA',NULL,2232,NULL,'GO:0001968|F:fibronectin binding|IPI; GO:0097655|F:serpin family protein binding|IPI; GO:0030574|P:collagen catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135211,'Experimental MF/BP Leaf Term GOA',NULL,2233,NULL,'GO:0001968|F:fibronectin binding|IPI; GO:0030574|P:collagen catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135212,'Experimental MF/BP Leaf Term GOA',NULL,2239,NULL,'GO:0097199|F:cysteine-type endopeptidase activity involved in apoptotic signaling pathway|IMP; GO:0035877|F:death effector domain binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135213,'Experimental MF/BP Leaf Term GOA',NULL,2242,NULL,'GO:0031748|F:D1 dopamine receptor binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0070836|P:caveola assembly|IDA; GO:0044791|P:positive regulation by host of viral release from host cell|IMP',NULL,NULL,NULL,NULL,NULL),(135214,'Experimental MF/BP Leaf Term GOA',NULL,2246,NULL,'GO:0046875|F:ephrin receptor binding|IPI; GO:0017124|F:SH3 domain binding|IPI; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135215,'Experimental MF/BP Leaf Term GOA',NULL,2247,NULL,'GO:0090630|P:activation of GTPase activity|IDA; GO:0035024|P:negative regulation of Rho protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(135216,'Experimental MF/BP Leaf Term GOA',NULL,2254,NULL,'GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(135217,'Experimental MF/BP Leaf Term GOA',NULL,2262,NULL,'GO:0004951|F:cholecystokinin receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135218,'Experimental MF/BP Leaf Term GOA',NULL,2263,NULL,'GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(135219,'Experimental MF/BP Leaf Term GOA',NULL,2267,NULL,'GO:0038117|F:C-C motif chemokine 19 receptor activity|IDA; GO:0038121|F:C-C motif chemokine 21 receptor activity|IDA; GO:0035757|F:chemokine (C-C motif) ligand 19 binding|IPI; GO:0035758|F:chemokine (C-C motif) ligand 21 binding|IPI; GO:0090023|P:positive regulation of neutrophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135220,'Experimental MF/BP Leaf Term GOA',NULL,2269,NULL,'GO:0030884|F:exogenous lipid antigen binding|IDA; GO:0048006|P:antigen processing and presentation, endogenous lipid antigen via MHC class Ib|IDA',NULL,NULL,NULL,NULL,NULL),(135221,'Experimental MF/BP Leaf Term GOA',NULL,2275,NULL,'GO:0005524|F:ATP binding|IDA',NULL,NULL,NULL,NULL,NULL),(135222,'Experimental MF/BP Leaf Term GOA',NULL,2276,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0008327|F:methyl-CpG binding|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(135223,'Experimental MF/BP Leaf Term GOA',NULL,2277,NULL,'GO:0070182|F:DNA polymerase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135224,'Experimental MF/BP Leaf Term GOA',NULL,2280,NULL,'GO:0035598|F:N6-threonylcarbomyladenosine methylthiotransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135225,'Experimental MF/BP Leaf Term GOA',NULL,2283,NULL,'GO:0004096|F:catalase activity|IDA; GO:0020037|F:heme binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0051289|P:protein homotetramerization|IDA; GO:0009650|P:UV protection|IMP',NULL,NULL,NULL,NULL,NULL),(135226,'Experimental MF/BP Leaf Term GOA',NULL,2288,NULL,'GO:0008201|F:heparin binding|IDA; GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(135227,'Experimental MF/BP Leaf Term GOA',NULL,2289,NULL,'GO:1900454|P:positive regulation of long-term synaptic depression|IMP',NULL,NULL,NULL,NULL,NULL),(135228,'Experimental MF/BP Leaf Term GOA',NULL,2302,NULL,'GO:1904668|P:positive regulation of ubiquitin protein ligase activity|IMP',NULL,NULL,NULL,NULL,NULL),(135229,'Experimental MF/BP Leaf Term GOA',NULL,2304,NULL,'GO:0004090|F:carbonyl reductase (NADPH) activity|IDA',NULL,NULL,NULL,NULL,NULL),(135230,'Experimental MF/BP Leaf Term GOA',NULL,2305,NULL,'GO:0004090|F:carbonyl reductase (NADPH) activity|IDA; GO:0070402|F:NADPH binding|IDA',NULL,NULL,NULL,NULL,NULL),(135231,'Experimental MF/BP Leaf Term GOA',NULL,2306,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(135232,'Experimental MF/BP Leaf Term GOA',NULL,2309,NULL,'GO:0031728|F:CCR3 chemokine receptor binding|IDA; GO:0008009|F:chemokine activity|IDA; GO:0002548|P:monocyte chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135233,'Experimental MF/BP Leaf Term GOA',NULL,2310,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IMP; GO:1903237|P:negative regulation of leukocyte tethering or rolling|IDA',NULL,NULL,NULL,NULL,NULL),(135234,'Experimental MF/BP Leaf Term GOA',NULL,2312,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(135235,'Experimental MF/BP Leaf Term GOA',NULL,2313,NULL,'GO:0031726|F:CCR1 chemokine receptor binding|IPI; GO:0008009|F:chemokine activity|IDA; GO:0048245|P:eosinophil chemotaxis|IDA; GO:2000503|P:positive regulation of natural killer cell chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135236,'Experimental MF/BP Leaf Term GOA',NULL,2314,NULL,'GO:0031731|F:CCR6 chemokine receptor binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IDA',NULL,NULL,NULL,NULL,NULL),(135237,'Experimental MF/BP Leaf Term GOA',NULL,2317,NULL,'GO:0031726|F:CCR1 chemokine receptor binding|IPI; GO:0008009|F:chemokine activity|IDA; GO:2001264|P:negative regulation of C-C chemokine binding|IDA',NULL,NULL,NULL,NULL,NULL),(135238,'Experimental MF/BP Leaf Term GOA',NULL,2319,NULL,'GO:0005524|F:ATP binding|IDA',NULL,NULL,NULL,NULL,NULL),(135239,'Experimental MF/BP Leaf Term GOA',NULL,2324,NULL,'GO:0005174|F:CD40 receptor binding|IPI; GO:0007257|P:activation of JUN kinase activity|IDA; GO:0030168|P:platelet activation|IDA; GO:2000353|P:positive regulation of endothelial cell apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(135240,'Experimental MF/BP Leaf Term GOA',NULL,2326,NULL,'GO:0045078|P:positive regulation of interferon-gamma biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135241,'Experimental MF/BP Leaf Term GOA',NULL,2327,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0031145|P:anaphase-promoting complex-dependent catabolic process|IDA; GO:1904668|P:positive regulation of ubiquitin protein ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135242,'Experimental MF/BP Leaf Term GOA',NULL,2330,NULL,'GO:0034618|F:arginine binding|IDA; GO:1903577|P:cellular response to L-arginine|IMP; GO:1904262|P:negative regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135243,'Experimental MF/BP Leaf Term GOA',NULL,2331,NULL,'GO:0030735|F:carnosine N-methyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135244,'Experimental MF/BP Leaf Term GOA',NULL,2332,NULL,'GO:0019886|P:antigen processing and presentation of exogenous peptide antigen via MHC class II|IDA',NULL,NULL,NULL,NULL,NULL),(135245,'Experimental MF/BP Leaf Term GOA',NULL,2333,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0070320|F:inward rectifier potassium channel inhibitor activity|IDA; GO:0044325|F:ion channel binding|IPI; GO:0050998|F:nitric-oxide synthase binding|IPI; GO:0070836|P:caveola assembly|IMP; GO:0071360|P:cellular response to exogenous dsRNA|IMP; GO:0071455|P:cellular response to hyperoxia|IMP; GO:2000811|P:negative regulation of anoikis|IMP; GO:1903609|P:negative regulation of inward rectifier potassium channel activity|IMP; GO:1900085|P:negative regulation of peptidyl-tyrosine autophosphorylation|IMP; GO:0060355|P:positive regulation of cell adhesion molecule production|IMP; GO:0034141|P:positive regulation of toll-like receptor 3 signaling pathway|IMP; GO:2000286|P:receptor internalization involved in canonical Wnt signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135246,'Experimental MF/BP Leaf Term GOA',NULL,2337,NULL,'GO:0071347|P:cellular response to interleukin-1|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA',NULL,NULL,NULL,NULL,NULL),(135247,'Experimental MF/BP Leaf Term GOA',NULL,2338,NULL,'GO:0001968|F:fibronectin binding|IPI; GO:0030574|P:collagen catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135248,'Experimental MF/BP Leaf Term GOA',NULL,2343,NULL,'GO:0035610|P:protein side chain deglutamylation|IDA',NULL,NULL,NULL,NULL,NULL),(135249,'Experimental MF/BP Leaf Term GOA',NULL,2347,NULL,'GO:0036158|P:outer dynein arm assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135250,'Experimental MF/BP Leaf Term GOA',NULL,2357,NULL,'GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135251,'Experimental MF/BP Leaf Term GOA',NULL,2358,NULL,'GO:0090160|P:Golgi to lysosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(135252,'Experimental MF/BP Leaf Term GOA',NULL,2366,NULL,'GO:0031726|F:CCR1 chemokine receptor binding|IDA; GO:0031730|F:CCR5 chemokine receptor binding|IPI; GO:0008009|F:chemokine activity|IDA; GO:0046817|F:chemokine receptor antagonist activity|IDA; GO:0004435|F:phosphatidylinositol phospholipase C activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0030298|F:receptor signaling protein tyrosine kinase activator activity|IDA; GO:0031584|P:activation of phospholipase D activity|IDA; GO:0044344|P:cellular response to fibroblast growth factor stimulus|IEP; GO:0071346|P:cellular response to interferon-gamma|IEP; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071356|P:cellular response to tumor necrosis factor|IEP; GO:0048245|P:eosinophil chemotaxis|IDA; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IDA; GO:0043922|P:negative regulation by host of viral transcription|IDA; GO:0033634|P:positive regulation of cell-cell adhesion mediated by integrin|IDA; GO:0010759|P:positive regulation of macrophage chemotaxis|IDA; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA; GO:2000503|P:positive regulation of natural killer cell chemotaxis|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0010820|P:positive regulation of T cell chemotaxis|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA; GO:0043491|P:protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135253,'Experimental MF/BP Leaf Term GOA',NULL,2367,NULL,'GO:0031735|F:CCR10 chemokine receptor binding|IDA; GO:0008009|F:chemokine activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0001768|P:establishment of T cell polarity|IDA; GO:2000669|P:negative regulation of dendritic cell apoptotic process|IDA; GO:0090023|P:positive regulation of neutrophil chemotaxis|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(135254,'Experimental MF/BP Leaf Term GOA',NULL,2368,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:1905078|P:positive regulation of interleukin-17 secretion|IDA; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135255,'Experimental MF/BP Leaf Term GOA',NULL,2370,NULL,'GO:0005070|F:SH3/SH2 adaptor activity|IDA; GO:0045086|P:positive regulation of interleukin-2 biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135256,'Experimental MF/BP Leaf Term GOA',NULL,2375,NULL,'GO:0002860|P:positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|IMP; GO:0050862|P:positive regulation of T cell receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135257,'Experimental MF/BP Leaf Term GOA',NULL,2376,NULL,'GO:0042803|F:protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(135258,'Experimental MF/BP Leaf Term GOA',NULL,2377,NULL,'GO:0034191|F:apolipoprotein A-I receptor binding|IPI; GO:0032427|F:GBD domain binding|IPI; GO:0005525|F:GTP binding|IDA; GO:0031996|F:thioesterase binding|IPI; GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:2000251|P:positive regulation of actin cytoskeleton reorganization|IMP; GO:0051491|P:positive regulation of filopodium assembly|IMP; GO:0010592|P:positive regulation of lamellipodium assembly|IMP; GO:0051496|P:positive regulation of stress fiber assembly|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(135259,'Experimental MF/BP Leaf Term GOA',NULL,2378,NULL,'GO:0097110|F:scaffold protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(135260,'Experimental MF/BP Leaf Term GOA',NULL,2380,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0004693|F:cyclin-dependent protein serine/threonine kinase activity|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IMP; GO:0071157|P:negative regulation of cell cycle arrest|IDA',NULL,NULL,NULL,NULL,NULL),(135261,'Experimental MF/BP Leaf Term GOA',NULL,2385,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0006977|P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|IMP',NULL,NULL,NULL,NULL,NULL),(135262,'Experimental MF/BP Leaf Term GOA',NULL,2386,NULL,'GO:0097199|F:cysteine-type endopeptidase activity involved in apoptotic signaling pathway|IMP; GO:0035877|F:death effector domain binding|IPI; GO:0097110|F:scaffold protein binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0097202|P:activation of cysteine-type endopeptidase activity|IDA; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0097194|P:execution phase of apoptosis|IMP; GO:0036462|P:TRAIL-activated apoptotic signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135263,'Experimental MF/BP Leaf Term GOA',NULL,2393,NULL,'GO:0060048|P:cardiac muscle contraction|IMP; GO:0071313|P:cellular response to caffeine|IMP; GO:0060315|P:negative regulation of ryanodine-sensitive calcium-release channel activity|IDA; GO:0010881|P:regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|IMP; GO:0051208|P:sequestering of calcium ion|IDA',NULL,NULL,NULL,NULL,NULL),(135264,'Experimental MF/BP Leaf Term GOA',NULL,2394,NULL,'GO:0008656|F:cysteine-type endopeptidase activator activity involved in apoptotic process|IDA; GO:0030108|F:HLA-A specific activating MHC class I receptor activity|IDA; GO:0070324|F:thyroid hormone binding|IDA; GO:0010815|P:bradykinin catabolic process|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IDA; GO:0031648|P:protein destabilization|IMP; GO:0043129|P:surfactant homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(135265,'Experimental MF/BP Leaf Term GOA',NULL,2398,NULL,'GO:1990226|F:histone methyltransferase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135266,'Experimental MF/BP Leaf Term GOA',NULL,2399,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(135267,'Experimental MF/BP Leaf Term GOA',NULL,2411,NULL,'GO:0031728|F:CCR3 chemokine receptor binding|IPI; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(135268,'Experimental MF/BP Leaf Term GOA',NULL,2415,NULL,'GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135269,'Experimental MF/BP Leaf Term GOA',NULL,2417,NULL,'GO:0060474|P:positive regulation of flagellated sperm motility involved in capacitation|IDA',NULL,NULL,NULL,NULL,NULL),(135270,'Experimental MF/BP Leaf Term GOA',NULL,2418,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(135271,'Experimental MF/BP Leaf Term GOA',NULL,2419,NULL,'GO:0031728|F:CCR3 chemokine receptor binding|IDA; GO:0008009|F:chemokine activity|IDA; GO:0048245|P:eosinophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135272,'Experimental MF/BP Leaf Term GOA',NULL,2423,NULL,'GO:0001530|F:lipopolysaccharide binding|IDA; GO:0070891|F:lipoteichoic acid binding|IDA; GO:0071726|P:cellular response to diacyl bacterial lipopeptide|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071223|P:cellular response to lipoteichoic acid|IDA; GO:0071727|P:cellular response to triacyl bacterial lipopeptide|IDA; GO:2000484|P:positive regulation of interleukin-8 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(135273,'Experimental MF/BP Leaf Term GOA',NULL,2424,NULL,'GO:0071791|F:chemokine (C-C motif) ligand 5 binding|IPI; GO:0071222|P:cellular response to lipopolysaccharide|IEP; GO:0014808|P:release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|IDA',NULL,NULL,NULL,NULL,NULL),(135274,'Experimental MF/BP Leaf Term GOA',NULL,2425,NULL,'GO:0050431|F:transforming growth factor beta binding|IPI',NULL,NULL,NULL,NULL,NULL),(135275,'Experimental MF/BP Leaf Term GOA',NULL,2429,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(135276,'Experimental MF/BP Leaf Term GOA',NULL,2430,NULL,'GO:0072672|P:neutrophil extravasation|IMP; GO:0043315|P:positive regulation of neutrophil degranulation|IGI; GO:0032930|P:positive regulation of superoxide anion generation|IGI; GO:0034394|P:protein localization to cell surface|IMP',NULL,NULL,NULL,NULL,NULL),(135277,'Experimental MF/BP Leaf Term GOA',NULL,2431,NULL,'GO:0031419|F:cobalamin binding|IDA; GO:0031296|P:B cell costimulation|IMP; GO:0015889|P:cobalamin transport|IMP; GO:0030890|P:positive regulation of B cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(135278,'Experimental MF/BP Leaf Term GOA',NULL,2433,NULL,'GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(135279,'Experimental MF/BP Leaf Term GOA',NULL,2435,NULL,'GO:0007091|P:metaphase/anaphase transition of mitotic cell cycle|IMP; GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(135280,'Experimental MF/BP Leaf Term GOA',NULL,2438,NULL,'GO:0047186|F:N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135281,'Experimental MF/BP Leaf Term GOA',NULL,2439,NULL,'GO:0045779|P:negative regulation of bone resorption|IMP; GO:0032812|P:positive regulation of epinephrine secretion|IDA',NULL,NULL,NULL,NULL,NULL),(135282,'Experimental MF/BP Leaf Term GOA',NULL,2440,NULL,'GO:1904262|P:negative regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135283,'Experimental MF/BP Leaf Term GOA',NULL,2450,NULL,'GO:0034454|P:microtubule anchoring at centrosome|IMP',NULL,NULL,NULL,NULL,NULL),(135284,'Experimental MF/BP Leaf Term GOA',NULL,2457,NULL,'GO:1905515|P:non-motile cilium assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135285,'Experimental MF/BP Leaf Term GOA',NULL,2458,NULL,'GO:0031735|F:CCR10 chemokine receptor binding|IDA; GO:0008009|F:chemokine activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:1903237|P:negative regulation of leukocyte tethering or rolling|IDA',NULL,NULL,NULL,NULL,NULL),(135286,'Experimental MF/BP Leaf Term GOA',NULL,2459,NULL,'GO:0071910|P:determination of liver left/right asymmetry|IMP; GO:0035469|P:determination of pancreatic left/right asymmetry|IMP; GO:0060287|P:epithelial cilium movement involved in determination of left/right asymmetry|IMP; GO:0030317|P:flagellated sperm motility|IMP; GO:0001947|P:heart looping|IMP; GO:0036159|P:inner dynein arm assembly|IMP; GO:0044458|P:motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135287,'Experimental MF/BP Leaf Term GOA',NULL,2460,NULL,'GO:0000086|P:G2/M transition of mitotic cell cycle|IDA',NULL,NULL,NULL,NULL,NULL),(135288,'Experimental MF/BP Leaf Term GOA',NULL,2462,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(135289,'Experimental MF/BP Leaf Term GOA',NULL,2463,NULL,'GO:0004693|F:cyclin-dependent protein serine/threonine kinase activity|IDA; GO:0008353|F:RNA polymerase II CTD heptapeptide repeat kinase activity|IDA; GO:0044828|P:negative regulation by host of viral genome replication|IDA; GO:0071157|P:negative regulation of cell cycle arrest|IGI; GO:2001165|P:positive regulation of phosphorylation of RNA polymerase II C-terminal domain serine 2 residues|IMP',NULL,NULL,NULL,NULL,NULL),(135290,'Experimental MF/BP Leaf Term GOA',NULL,2464,NULL,'GO:1990755|P:mitotic spindle microtubule depolymerization|IDA; GO:1901673|P:regulation of mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135291,'Experimental MF/BP Leaf Term GOA',NULL,2472,NULL,'GO:0042803|F:protein homodimerization activity|IMP; GO:0051289|P:protein homotetramerization|IMP; GO:0070207|P:protein homotrimerization|IMP',NULL,NULL,NULL,NULL,NULL),(135292,'Experimental MF/BP Leaf Term GOA',NULL,2473,NULL,'GO:0042011|F:interleukin-16 binding|IPI; GO:0042012|F:interleukin-16 receptor activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0097011|P:cellular response to granulocyte macrophage colony-stimulating factor stimulus|IDA; GO:0006948|P:induction by virus of host cell-cell fusion|IDA; GO:0035723|P:interleukin-15-mediated signaling pathway|IDA; GO:0045657|P:positive regulation of monocyte differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(135293,'Experimental MF/BP Leaf Term GOA',NULL,2481,NULL,'GO:0098535|P:de novo centriole assembly involved in multi-ciliated epithelial cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(135294,'Experimental MF/BP Leaf Term GOA',NULL,2483,NULL,'GO:0031728|F:CCR3 chemokine receptor binding|IDA; GO:0008009|F:chemokine activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0048245|P:eosinophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135295,'Experimental MF/BP Leaf Term GOA',NULL,2484,NULL,'GO:1903251|P:multi-ciliated epithelial cell differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(135296,'Experimental MF/BP Leaf Term GOA',NULL,2485,NULL,'GO:0097322|F:7SK snRNA binding|IDA; GO:1900364|P:negative regulation of mRNA polyadenylation|IMP',NULL,NULL,NULL,NULL,NULL),(135297,'Experimental MF/BP Leaf Term GOA',NULL,2488,NULL,'GO:0071791|F:chemokine (C-C motif) ligand 5 binding|IPI; GO:0035717|F:chemokine (C-C motif) ligand 7 binding|IPI; GO:0004435|F:phosphatidylinositol phospholipase C activity|IDA; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135298,'Experimental MF/BP Leaf Term GOA',NULL,2495,NULL,'GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(135299,'Experimental MF/BP Leaf Term GOA',NULL,2496,NULL,'GO:0070053|F:thrombospondin receptor activity|IPI; GO:0071349|P:cellular response to interleukin-12|IMP',NULL,NULL,NULL,NULL,NULL),(135300,'Experimental MF/BP Leaf Term GOA',NULL,2497,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0071987|F:WD40-repeat domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(135301,'Experimental MF/BP Leaf Term GOA',NULL,2498,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0004693|F:cyclin-dependent protein serine/threonine kinase activity|IMP; GO:0000086|P:G2/M transition of mitotic cell cycle|IDA',NULL,NULL,NULL,NULL,NULL),(135302,'Experimental MF/BP Leaf Term GOA',NULL,2501,NULL,'GO:0031005|F:filamin binding|IPI; GO:0042803|F:protein homodimerization activity|IMP; GO:0043318|P:negative regulation of cytotoxic T cell degranulation|IDA; GO:0002859|P:negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|IMP',NULL,NULL,NULL,NULL,NULL),(135303,'Experimental MF/BP Leaf Term GOA',NULL,2502,NULL,'GO:0004861|F:cyclin-dependent protein serine/threonine kinase inhibitor activity|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IDA',NULL,NULL,NULL,NULL,NULL),(135304,'Experimental MF/BP Leaf Term GOA',NULL,2506,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(135305,'Experimental MF/BP Leaf Term GOA',NULL,2507,NULL,'GO:0043515|F:kinetochore binding|IDA; GO:0051382|P:kinetochore assembly|IDA; GO:0099607|P:lateral attachment of mitotic spindle microtubules to kinetochore|IMP; GO:0099606|P:microtubule plus-end directed mitotic chromosome migration|IDA; GO:0007079|P:mitotic chromosome movement towards spindle pole|IDA; GO:0007080|P:mitotic metaphase plate congression|IMP',NULL,NULL,NULL,NULL,NULL),(135306,'Experimental MF/BP Leaf Term GOA',NULL,2509,NULL,'GO:0097194|P:execution phase of apoptosis|IDA',NULL,NULL,NULL,NULL,NULL),(135307,'Experimental MF/BP Leaf Term GOA',NULL,2512,NULL,'GO:0000712|P:resolution of meiotic recombination intermediates|IMP',NULL,NULL,NULL,NULL,NULL),(135308,'Experimental MF/BP Leaf Term GOA',NULL,2513,NULL,'GO:0072721|P:cellular response to dithiothreitol|IDA; GO:0071492|P:cellular response to UV-A|IDA',NULL,NULL,NULL,NULL,NULL),(135309,'Experimental MF/BP Leaf Term GOA',NULL,2514,NULL,'GO:1901673|P:regulation of mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135310,'Experimental MF/BP Leaf Term GOA',NULL,2515,NULL,'GO:0051382|P:kinetochore assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135311,'Experimental MF/BP Leaf Term GOA',NULL,2533,NULL,'GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA',NULL,NULL,NULL,NULL,NULL),(135312,'Experimental MF/BP Leaf Term GOA',NULL,2540,NULL,'GO:0004693|F:cyclin-dependent protein serine/threonine kinase activity|EXP; GO:0042826|F:histone deacetylase binding|IPI; GO:0000082|P:G1/S transition of mitotic cell cycle|IDA; GO:0031571|P:mitotic G1 DNA damage checkpoint|IDA; GO:0071157|P:negative regulation of cell cycle arrest|IDA',NULL,NULL,NULL,NULL,NULL),(135313,'Experimental MF/BP Leaf Term GOA',NULL,2542,NULL,'GO:0001530|F:lipopolysaccharide binding|IDA; GO:0070891|F:lipoteichoic acid binding|IMP; GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IMP; GO:0001771|P:immunological synapse formation|IMP; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IDA; GO:1900017|P:positive regulation of cytokine production involved in inflammatory response|IDA',NULL,NULL,NULL,NULL,NULL),(135314,'Experimental MF/BP Leaf Term GOA',NULL,2543,NULL,'GO:0007342|P:fusion of sperm to egg plasma membrane involved in single fertilization|IDA',NULL,NULL,NULL,NULL,NULL),(135315,'Experimental MF/BP Leaf Term GOA',NULL,2546,NULL,'GO:0043539|F:protein serine/threonine kinase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(135316,'Experimental MF/BP Leaf Term GOA',NULL,2547,NULL,'GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP',NULL,NULL,NULL,NULL,NULL),(135317,'Experimental MF/BP Leaf Term GOA',NULL,2558,NULL,'GO:0090222|P:centrosome-templated microtubule nucleation|IMP; GO:0090307|P:mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135318,'Experimental MF/BP Leaf Term GOA',NULL,2561,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(135319,'Experimental MF/BP Leaf Term GOA',NULL,2566,NULL,'GO:0051087|F:chaperone binding|IPI',NULL,NULL,NULL,NULL,NULL),(135320,'Experimental MF/BP Leaf Term GOA',NULL,2567,NULL,'GO:1901727|P:positive regulation of histone deacetylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135321,'Experimental MF/BP Leaf Term GOA',NULL,2568,NULL,'GO:0050699|F:WW domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(135322,'Experimental MF/BP Leaf Term GOA',NULL,2571,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(135323,'Experimental MF/BP Leaf Term GOA',NULL,2578,NULL,'GO:0016403|F:dimethylargininase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135324,'Experimental MF/BP Leaf Term GOA',NULL,2579,NULL,'GO:0097602|F:cullin family protein binding|IPI; GO:0071987|F:WD40-repeat domain binding|IPI; GO:0046726|P:positive regulation by virus of viral protein levels in host cell|IMP; GO:0070914|P:UV-damage excision repair|IDA',NULL,NULL,NULL,NULL,NULL),(135325,'Experimental MF/BP Leaf Term GOA',NULL,2580,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002227|P:innate immune response in mucosa|IDA; GO:0030520|P:intracellular estrogen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135326,'Experimental MF/BP Leaf Term GOA',NULL,2582,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(135327,'Experimental MF/BP Leaf Term GOA',NULL,2583,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135328,'Experimental MF/BP Leaf Term GOA',NULL,2585,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135329,'Experimental MF/BP Leaf Term GOA',NULL,2586,NULL,'GO:0043531|F:ADP binding|IDA; GO:0004352|F:glutamate dehydrogenase (NAD+) activity|IDA; GO:0005525|F:GTP binding|IDA; GO:0070728|F:leucine binding|IDA; GO:0070403|F:NAD+ binding|IDA',NULL,NULL,NULL,NULL,NULL),(135330,'Experimental MF/BP Leaf Term GOA',NULL,2589,NULL,'GO:1900264|P:positive regulation of DNA-directed DNA polymerase activity|IDA; GO:0034421|P:post-translational protein acetylation|IMP',NULL,NULL,NULL,NULL,NULL),(135331,'Experimental MF/BP Leaf Term GOA',NULL,2593,NULL,'GO:0001103|F:RNA polymerase II repressing transcription factor binding|IDA; GO:1903721|P:positive regulation of I-kappaB phosphorylation|IMP; GO:1905636|P:positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding|IMP; GO:1990592|P:protein K69-linked ufmylation|IDA',NULL,NULL,NULL,NULL,NULL),(135332,'Experimental MF/BP Leaf Term GOA',NULL,2595,NULL,'GO:0030262|P:apoptotic nuclear changes|IDA',NULL,NULL,NULL,NULL,NULL),(135333,'Experimental MF/BP Leaf Term GOA',NULL,2596,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135334,'Experimental MF/BP Leaf Term GOA',NULL,2598,NULL,'GO:0016509|F:long-chain-3-hydroxyacyl-CoA dehydrogenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135335,'Experimental MF/BP Leaf Term GOA',NULL,2600,NULL,'GO:2000623|P:negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|IMP',NULL,NULL,NULL,NULL,NULL),(135336,'Experimental MF/BP Leaf Term GOA',NULL,2601,NULL,'GO:0000253|F:3-keto sterol reductase activity|IDA; GO:0004090|F:carbonyl reductase (NADPH) activity|IDA',NULL,NULL,NULL,NULL,NULL),(135337,'Experimental MF/BP Leaf Term GOA',NULL,2602,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0039534|P:negative regulation of MDA-5 signaling pathway|IMP; GO:0039536|P:negative regulation of RIG-I signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135338,'Experimental MF/BP Leaf Term GOA',NULL,2604,NULL,'GO:0043015|F:gamma-tubulin binding|IDA',NULL,NULL,NULL,NULL,NULL),(135339,'Experimental MF/BP Leaf Term GOA',NULL,2607,NULL,'GO:0097322|F:7SK snRNA binding|IDA; GO:0035198|F:miRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(135340,'Experimental MF/BP Leaf Term GOA',NULL,2610,NULL,'GO:0005080|F:protein kinase C binding|IPI; GO:0097110|F:scaffold protein binding|IPI; GO:0086073|P:bundle of His cell-Purkinje myocyte adhesion involved in cell communication|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(135341,'Experimental MF/BP Leaf Term GOA',NULL,2611,NULL,'GO:0004144|F:diacylglycerol O-acyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135342,'Experimental MF/BP Leaf Term GOA',NULL,2612,NULL,'GO:0004143|F:diacylglycerol kinase activity|IDA; GO:0007205|P:protein kinase C-activating G protein-coupled receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135343,'Experimental MF/BP Leaf Term GOA',NULL,2613,NULL,'GO:0004143|F:diacylglycerol kinase activity|IDA; GO:0043274|F:phospholipase binding|IPI; GO:0030297|F:transmembrane receptor protein tyrosine kinase activator activity|IGI; GO:0010801|P:negative regulation of peptidyl-threonine phosphorylation|IDA; GO:0006654|P:phosphatidic acid biosynthetic process|IDA; GO:0070528|P:protein kinase C signaling|IDA; GO:0070493|P:thrombin-activated receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135344,'Experimental MF/BP Leaf Term GOA',NULL,2615,NULL,'GO:0004303|F:estradiol 17-beta-dehydrogenase activity|IDA; GO:1903924|F:estradiol binding|IDA; GO:0070401|F:NADP+ binding|IMP',NULL,NULL,NULL,NULL,NULL),(135345,'Experimental MF/BP Leaf Term GOA',NULL,2616,NULL,'GO:0034038|F:deoxyhypusine synthase activity|IDA; GO:0008612|P:peptidyl-lysine modification to peptidyl-hypusine|IDA',NULL,NULL,NULL,NULL,NULL),(135346,'Experimental MF/BP Leaf Term GOA',NULL,2618,NULL,'GO:0047025|F:3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity|IMP; GO:0004303|F:estradiol 17-beta-dehydrogenase activity|IDA; GO:0070404|F:NADH binding|IDA; GO:0006703|P:estrogen biosynthetic process|IDA; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(135347,'Experimental MF/BP Leaf Term GOA',NULL,2619,NULL,'GO:0034513|F:box H/ACA snoRNA binding|IPI; GO:0003720|F:telomerase activity|IDA; GO:0070034|F:telomerase RNA binding|IPI; GO:0000455|P:enzyme-directed rRNA pseudouridine synthesis|IMP; GO:1904874|P:positive regulation of telomerase RNA localization to Cajal body|IMP; GO:0090666|P:scaRNA localization to Cajal body|IMP; GO:0090669|P:telomerase RNA stabilization|IMP; GO:0007004|P:telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(135348,'Experimental MF/BP Leaf Term GOA',NULL,2620,NULL,'GO:0060539|P:diaphragm development|IMP',NULL,NULL,NULL,NULL,NULL),(135349,'Experimental MF/BP Leaf Term GOA',NULL,2621,NULL,'GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(135350,'Experimental MF/BP Leaf Term GOA',NULL,2623,NULL,'GO:0097752|P:regulation of DNA stability|IMP',NULL,NULL,NULL,NULL,NULL),(135351,'Experimental MF/BP Leaf Term GOA',NULL,2624,NULL,'GO:0090141|P:positive regulation of mitochondrial fission|IDA',NULL,NULL,NULL,NULL,NULL),(135352,'Experimental MF/BP Leaf Term GOA',NULL,2625,NULL,'GO:1900245|P:positive regulation of MDA-5 signaling pathway|IMP; GO:1900246|P:positive regulation of RIG-I signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135353,'Experimental MF/BP Leaf Term GOA',NULL,2627,NULL,'GO:0008670|F:2,4-dienoyl-CoA reductase (NADPH) activity|IDA; GO:0070402|F:NADPH binding|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(135354,'Experimental MF/BP Leaf Term GOA',NULL,2630,NULL,'GO:0030331|F:estrogen receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(135355,'Experimental MF/BP Leaf Term GOA',NULL,2631,NULL,'GO:0008190|F:eukaryotic initiation factor 4E binding|IDA; GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:0008143|F:poly(A) binding|IDA; GO:0043539|F:protein serine/threonine kinase activator activity|IDA; GO:0043024|F:ribosomal small subunit binding|IDA; GO:0033592|F:RNA strand annealing activity|IDA; GO:0042256|P:mature ribosome assembly|IMP; GO:1903608|P:protein localization to cytoplasmic stress granule|IMP; GO:0010501|P:RNA secondary structure unwinding|IDA; GO:0034063|P:stress granule assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135356,'Experimental MF/BP Leaf Term GOA',NULL,2633,NULL,'GO:0006710|P:androgen catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135357,'Experimental MF/BP Leaf Term GOA',NULL,2634,NULL,'GO:0047598|F:7-dehydrocholesterol reductase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135358,'Experimental MF/BP Leaf Term GOA',NULL,2635,NULL,'GO:1902775|P:mitochondrial large ribosomal subunit assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135359,'Experimental MF/BP Leaf Term GOA',NULL,2638,NULL,'GO:0035197|F:siRNA binding|IDA; GO:0033168|P:conversion of ds siRNA to ss siRNA involved in RNA interference|IMP; GO:0035280|P:miRNA loading onto RISC involved in gene silencing by miRNA|IDA; GO:0031054|P:pre-miRNA processing|IDA; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IDA; GO:0035087|P:siRNA loading onto RISC involved in RNA interference|IDA; GO:0030423|P:targeting of mRNA for destruction involved in RNA interference|IMP',NULL,NULL,NULL,NULL,NULL),(135360,'Experimental MF/BP Leaf Term GOA',NULL,2641,NULL,'GO:0042407|P:cristae formation|IMP',NULL,NULL,NULL,NULL,NULL),(135361,'Experimental MF/BP Leaf Term GOA',NULL,2646,NULL,'GO:0071773|P:cellular response to BMP stimulus|IMP; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(135362,'Experimental MF/BP Leaf Term GOA',NULL,2647,NULL,'GO:0002162|F:dystroglycan binding|IPI; GO:0008307|F:structural constituent of muscle|IDA; GO:0017166|F:vinculin binding|IPI; GO:0060048|P:cardiac muscle contraction|IMP',NULL,NULL,NULL,NULL,NULL),(135363,'Experimental MF/BP Leaf Term GOA',NULL,2650,NULL,'GO:0001731|P:formation of translation preinitiation complex|IDA; GO:0075522|P:IRES-dependent viral translational initiation|IDA; GO:0032790|P:ribosome disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(135364,'Experimental MF/BP Leaf Term GOA',NULL,2651,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135365,'Experimental MF/BP Leaf Term GOA',NULL,2653,NULL,'GO:1904153|P:negative regulation of retrograde protein transport, ER to cytosol|IMP; GO:0030970|P:retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(135366,'Experimental MF/BP Leaf Term GOA',NULL,2654,NULL,'GO:1904153|P:negative regulation of retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(135367,'Experimental MF/BP Leaf Term GOA',NULL,2656,NULL,'GO:1990380|F:Lys48-specific deubiquitinase activity|IMP; GO:0061578|F:Lys63-specific deubiquitinase activity|IMP',NULL,NULL,NULL,NULL,NULL),(135368,'Experimental MF/BP Leaf Term GOA',NULL,2658,NULL,'GO:0004143|F:diacylglycerol kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135369,'Experimental MF/BP Leaf Term GOA',NULL,2659,NULL,'GO:0004143|F:diacylglycerol kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135370,'Experimental MF/BP Leaf Term GOA',NULL,2661,NULL,'GO:0004155|F:6,7-dihydropteridine reductase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135371,'Experimental MF/BP Leaf Term GOA',NULL,2663,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0071420|P:cellular response to histamine|IMP',NULL,NULL,NULL,NULL,NULL),(135372,'Experimental MF/BP Leaf Term GOA',NULL,2670,NULL,'GO:1905515|P:non-motile cilium assembly|IMP; GO:0002052|P:positive regulation of neuroblast proliferation|IGI',NULL,NULL,NULL,NULL,NULL),(135373,'Experimental MF/BP Leaf Term GOA',NULL,2672,NULL,'GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(135374,'Experimental MF/BP Leaf Term GOA',NULL,2673,NULL,'GO:0030325|P:adrenal gland development|IEP; GO:0032348|P:negative regulation of aldosterone biosynthetic process|IDA; GO:2000065|P:negative regulation of cortisol biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135375,'Experimental MF/BP Leaf Term GOA',NULL,2676,NULL,'GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(135376,'Experimental MF/BP Leaf Term GOA',NULL,2677,NULL,'GO:0004398|F:histidine decarboxylase activity|IDA; GO:0001694|P:histamine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135377,'Experimental MF/BP Leaf Term GOA',NULL,2678,NULL,'GO:2000436|P:positive regulation of protein neddylation|IMP',NULL,NULL,NULL,NULL,NULL),(135378,'Experimental MF/BP Leaf Term GOA',NULL,2679,NULL,'GO:0050072|F:m7G(5\')pppN diphosphatase activity|IDA; GO:0000340|F:RNA 7-methylguanosine cap binding|IDA; GO:0036245|P:cellular response to menadione|IDA; GO:0045292|P:mRNA cis splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(135379,'Experimental MF/BP Leaf Term GOA',NULL,2680,NULL,'GO:0071353|P:cellular response to interleukin-4|IDA',NULL,NULL,NULL,NULL,NULL),(135380,'Experimental MF/BP Leaf Term GOA',NULL,2686,NULL,'GO:0003688|F:DNA replication origin binding|IMP; GO:0045142|F:triplex DNA binding|IDA; GO:1904976|P:cellular response to bleomycin|IMP; GO:0072719|P:cellular response to cisplatin|IMP; GO:0072711|P:cellular response to hydroxyurea|IMP; GO:0044806|P:G-quadruplex DNA unwinding|IDA; GO:1990700|P:nucleolar chromatin organization|IMP; GO:0032079|P:positive regulation of endodeoxyribonuclease activity|IDA; GO:1901838|P:positive regulation of transcription of nucleolar large rRNA by RNA polymerase I|IMP',NULL,NULL,NULL,NULL,NULL),(135381,'Experimental MF/BP Leaf Term GOA',NULL,2687,NULL,'GO:1902775|P:mitochondrial large ribosomal subunit assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135382,'Experimental MF/BP Leaf Term GOA',NULL,2689,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA; GO:2000049|P:positive regulation of cell-cell adhesion mediated by cadherin|IDA',NULL,NULL,NULL,NULL,NULL),(135383,'Experimental MF/BP Leaf Term GOA',NULL,2691,NULL,'GO:1990756|F:protein binding, bridging involved in substrate recognition for ubiquitination|IPI; GO:0031625|F:ubiquitin protein ligase binding|IMP',NULL,NULL,NULL,NULL,NULL),(135384,'Experimental MF/BP Leaf Term GOA',NULL,2692,NULL,'GO:0060703|F:deoxyribonuclease inhibitor activity|IMP; GO:0044183|F:protein binding involved in protein folding|IPI; GO:1902511|P:negative regulation of apoptotic DNA fragmentation|IDA',NULL,NULL,NULL,NULL,NULL),(135385,'Experimental MF/BP Leaf Term GOA',NULL,2693,NULL,'GO:0004143|F:diacylglycerol kinase activity|IDA; GO:0006654|P:phosphatidic acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135386,'Experimental MF/BP Leaf Term GOA',NULL,2695,NULL,'GO:0004144|F:diacylglycerol O-acyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135387,'Experimental MF/BP Leaf Term GOA',NULL,2696,NULL,'GO:0004144|F:diacylglycerol O-acyltransferase activity|IDA; GO:0019432|P:triglyceride biosynthetic process|IDA; GO:0034379|P:very-low-density lipoprotein particle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135388,'Experimental MF/BP Leaf Term GOA',NULL,2697,NULL,'GO:0004143|F:diacylglycerol kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135389,'Experimental MF/BP Leaf Term GOA',NULL,2698,NULL,'GO:0004143|F:diacylglycerol kinase activity|IDA; GO:0008022|F:protein C-terminus binding|IDA; GO:0031571|P:mitotic G1 DNA damage checkpoint|IGI; GO:0090216|P:positive regulation of 1-phosphatidylinositol-4-phosphate 5-kinase activity|IMP',NULL,NULL,NULL,NULL,NULL),(135390,'Experimental MF/BP Leaf Term GOA',NULL,2699,NULL,'GO:0046340|P:diacylglycerol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135391,'Experimental MF/BP Leaf Term GOA',NULL,2700,NULL,'GO:0044594|F:17-beta-hydroxysteroid dehydrogenase (NAD+) activity|IDA; GO:0016508|F:long-chain-enoyl-CoA hydratase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135392,'Experimental MF/BP Leaf Term GOA',NULL,2702,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0031848|P:protection from non-homologous end joining at telomere|IMP; GO:0016233|P:telomere capping|IMP',NULL,NULL,NULL,NULL,NULL),(135393,'Experimental MF/BP Leaf Term GOA',NULL,2704,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002227|P:innate immune response in mucosa|IDA; GO:0030520|P:intracellular estrogen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135394,'Experimental MF/BP Leaf Term GOA',NULL,2705,NULL,'GO:0042586|F:peptide deformylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135395,'Experimental MF/BP Leaf Term GOA',NULL,2708,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(135396,'Experimental MF/BP Leaf Term GOA',NULL,2709,NULL,'GO:0045547|F:dehydrodolichyl diphosphate synthase activity|IDA; GO:0006489|P:dolichyl diphosphate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135397,'Experimental MF/BP Leaf Term GOA',NULL,2710,NULL,'GO:0004303|F:estradiol 17-beta-dehydrogenase activity|IDA; GO:0047045|F:testosterone 17-beta-dehydrogenase (NADP+) activity|IDA',NULL,NULL,NULL,NULL,NULL),(135398,'Experimental MF/BP Leaf Term GOA',NULL,2711,NULL,'GO:0004745|F:retinol dehydrogenase activity|IDA; GO:0047035|F:testosterone dehydrogenase (NAD+) activity|IDA; GO:0042904|P:9-cis-retinoic acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135399,'Experimental MF/BP Leaf Term GOA',NULL,2712,NULL,'GO:0043024|F:ribosomal small subunit binding|IDA',NULL,NULL,NULL,NULL,NULL),(135400,'Experimental MF/BP Leaf Term GOA',NULL,2719,NULL,'GO:0031731|F:CCR6 chemokine receptor binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002227|P:innate immune response in mucosa|IDA; GO:0060474|P:positive regulation of flagellated sperm motility involved in capacitation|IMP',NULL,NULL,NULL,NULL,NULL),(135401,'Experimental MF/BP Leaf Term GOA',NULL,2725,NULL,'GO:0004144|F:diacylglycerol O-acyltransferase activity|IDA; GO:0019432|P:triglyceride biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135402,'Experimental MF/BP Leaf Term GOA',NULL,2726,NULL,'GO:0004143|F:diacylglycerol kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135403,'Experimental MF/BP Leaf Term GOA',NULL,2727,NULL,'GO:0004143|F:diacylglycerol kinase activity|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135404,'Experimental MF/BP Leaf Term GOA',NULL,2728,NULL,'GO:0004143|F:diacylglycerol kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135405,'Experimental MF/BP Leaf Term GOA',NULL,2729,NULL,'GO:0020037|F:heme binding|IDA; GO:0070878|F:primary miRNA binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135406,'Experimental MF/BP Leaf Term GOA',NULL,2730,NULL,'GO:0000246|F:delta24(24-1) sterol reductase activity|IMP; GO:0050614|F:delta24-sterol reductase activity|EXP; GO:0042605|F:peptide antigen binding|IPI',NULL,NULL,NULL,NULL,NULL),(135407,'Experimental MF/BP Leaf Term GOA',NULL,2739,NULL,'GO:0004090|F:carbonyl reductase (NADPH) activity|IDA',NULL,NULL,NULL,NULL,NULL),(135408,'Experimental MF/BP Leaf Term GOA',NULL,2742,NULL,'GO:0005524|F:ATP binding|IDA; GO:0033681|F:ATP-dependent 3\'-5\' DNA/RNA helicase activity|IDA; GO:0034459|F:ATP-dependent 3\'-5\' RNA helicase activity|IDA; GO:0003688|F:DNA replication origin binding|IDA; GO:0061676|F:importin-alpha family protein binding|IDA; GO:1905538|F:polysome binding|IDA; GO:1990841|F:promoter-specific chromatin binding|IMP; GO:1905172|F:RISC complex binding|IDA; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:1990825|F:sequence-specific mRNA binding|IDA; GO:1990518|F:single-stranded DNA-dependent ATP-dependent 3\'-5\' DNA helicase activity|IDA; GO:0035197|F:siRNA binding|IDA; GO:0045142|F:triplex DNA binding|IDA; GO:0071360|P:cellular response to exogenous dsRNA|IMP; GO:0071356|P:cellular response to tumor necrosis factor|IMP; GO:0070934|P:CRD-mediated mRNA stabilization|IMP; GO:0039695|P:DNA-templated viral transcription|IDA; GO:0044806|P:G-quadruplex DNA unwinding|IDA; GO:2000373|P:positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity|IMP; GO:1902741|P:positive regulation of interferon-alpha secretion|IMP; GO:0035549|P:positive regulation of interferon-beta secretion|IMP; GO:2000778|P:positive regulation of interleukin-6 secretion|IMP; GO:1905698|P:positive regulation of polysome binding|IMP; GO:1904469|P:positive regulation of tumor necrosis factor secretion|IMP; GO:1904973|P:positive regulation of viral translation|IMP; GO:1903608|P:protein localization to cytoplasmic stress granule|IMP; GO:0010501|P:RNA secondary structure unwinding|IDA; GO:0030423|P:targeting of mRNA for destruction involved in RNA interference|IMP',NULL,NULL,NULL,NULL,NULL),(135409,'Experimental MF/BP Leaf Term GOA',NULL,2744,NULL,'GO:0023026|F:MHC class II protein complex binding|IDA; GO:0019886|P:antigen processing and presentation of exogenous peptide antigen via MHC class II|IMP; GO:0002399|P:MHC class II protein complex assembly|IMP; GO:0002503|P:peptide antigen assembly with MHC class II protein complex|IDA; GO:2001190|P:positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|IMP',NULL,NULL,NULL,NULL,NULL),(135410,'Experimental MF/BP Leaf Term GOA',NULL,2748,NULL,'GO:0008503|F:benzodiazepine receptor activity|IMP; GO:0022851|F:GABA-gated chloride ion channel activity|IDA; GO:1902476|P:chloride transmembrane transport|IDA; GO:0007214|P:gamma-aminobutyric acid signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135411,'Experimental MF/BP Leaf Term GOA',NULL,2749,NULL,'GO:0045295|F:gamma-catenin binding|IPI; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(135412,'Experimental MF/BP Leaf Term GOA',NULL,2750,NULL,'GO:0047757|F:chondroitin-glucuronate 5-epimerase activity|IDA; GO:0030208|P:dermatan sulfate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135413,'Experimental MF/BP Leaf Term GOA',NULL,2751,NULL,'GO:0045295|F:gamma-catenin binding|IPI; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(135414,'Experimental MF/BP Leaf Term GOA',NULL,2755,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135415,'Experimental MF/BP Leaf Term GOA',NULL,2756,NULL,'GO:0002039|F:p53 binding|IPI; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:0044387|P:negative regulation of protein kinase activity by regulation of protein phosphorylation|IMP; GO:1902310|P:positive regulation of peptidyl-serine dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135416,'Experimental MF/BP Leaf Term GOA',NULL,2759,NULL,'GO:0016174|F:NAD(P)H oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135417,'Experimental MF/BP Leaf Term GOA',NULL,2761,NULL,'GO:0004651|F:polynucleotide 5\'-phosphatase activity|IDA; GO:0098507|P:polynucleotide 5\' dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135418,'Experimental MF/BP Leaf Term GOA',NULL,2764,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0097016|F:L27 domain binding|IPI; GO:0031434|F:mitogen-activated protein kinase kinase binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0070830|P:bicellular tight junction assembly|IDA; GO:0043622|P:cortical microtubule organization|IMP; GO:0051660|P:establishment of centrosome localization|IMP; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP; GO:1903753|P:negative regulation of p38MAPK cascade|IMP',NULL,NULL,NULL,NULL,NULL),(135419,'Experimental MF/BP Leaf Term GOA',NULL,2766,NULL,'GO:0051575|F:5\'-deoxyribose-5-phosphate lyase activity|IDA; GO:0003887|F:DNA-directed DNA polymerase activity|IDA; GO:0006287|P:base-excision repair, gap-filling|IDA',NULL,NULL,NULL,NULL,NULL),(135420,'Experimental MF/BP Leaf Term GOA',NULL,2769,NULL,'GO:0004565|F:beta-galactosidase activity|IDA; GO:0017042|F:glycosylceramidase activity|IDA; GO:0051692|P:cellular oligosaccharide catabolic process|IDA; GO:1903017|P:positive regulation of exo-alpha-sialidase activity|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(135421,'Experimental MF/BP Leaf Term GOA',NULL,2775,NULL,'GO:0086073|P:bundle of His cell-Purkinje myocyte adhesion involved in cell communication|IMP; GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IDA; GO:0003165|P:Purkinje myocyte development|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(135422,'Experimental MF/BP Leaf Term GOA',NULL,2777,NULL,'GO:0003726|F:double-stranded RNA adenosine deaminase activity|IDA; GO:0035280|P:miRNA loading onto RISC involved in gene silencing by miRNA|IDA; GO:0044387|P:negative regulation of protein kinase activity by regulation of protein phosphorylation|IDA; GO:0031054|P:pre-miRNA processing|IDA',NULL,NULL,NULL,NULL,NULL),(135423,'Experimental MF/BP Leaf Term GOA',NULL,2778,NULL,'GO:0007214|P:gamma-aminobutyric acid signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135424,'Experimental MF/BP Leaf Term GOA',NULL,2786,NULL,'GO:0047238|F:glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|IDA; GO:0047237|F:glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|IDA; GO:0008955|F:peptidoglycan glycosyltransferase activity|IDA; GO:0030206|P:chondroitin sulfate biosynthetic process|IDA; GO:0050653|P:chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135425,'Experimental MF/BP Leaf Term GOA',NULL,2789,NULL,'GO:0010458|P:exit from mitosis|IMP; GO:0061952|P:midbody abscission|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP',NULL,NULL,NULL,NULL,NULL),(135426,'Experimental MF/BP Leaf Term GOA',NULL,2801,NULL,'GO:0007417|P:central nervous system development|IMP',NULL,NULL,NULL,NULL,NULL),(135427,'Experimental MF/BP Leaf Term GOA',NULL,2805,NULL,'GO:0007099|P:centriole replication|IMP; GO:0051298|P:centrosome duplication|IDA',NULL,NULL,NULL,NULL,NULL),(135428,'Experimental MF/BP Leaf Term GOA',NULL,2809,NULL,'GO:0051537|F:2 iron, 2 sulfur cluster binding|IDA',NULL,NULL,NULL,NULL,NULL),(135429,'Experimental MF/BP Leaf Term GOA',NULL,2811,NULL,'GO:0034875|F:caffeine oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135430,'Experimental MF/BP Leaf Term GOA',NULL,2817,NULL,'GO:0047730|F:carnosine synthase activity|IDA; GO:0035499|P:carnosine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135431,'Experimental MF/BP Leaf Term GOA',NULL,2826,NULL,'GO:0005524|F:ATP binding|IDA',NULL,NULL,NULL,NULL,NULL),(135432,'Experimental MF/BP Leaf Term GOA',NULL,2827,NULL,'GO:0097323|P:B cell adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(135433,'Experimental MF/BP Leaf Term GOA',NULL,2828,NULL,'GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IMP',NULL,NULL,NULL,NULL,NULL),(135434,'Experimental MF/BP Leaf Term GOA',NULL,2831,NULL,'GO:0031666|P:positive regulation of lipopolysaccharide-mediated signaling pathway|IGI',NULL,NULL,NULL,NULL,NULL),(135435,'Experimental MF/BP Leaf Term GOA',NULL,2833,NULL,'GO:0042803|F:protein homodimerization activity|IMP; GO:0051289|P:protein homotetramerization|IMP',NULL,NULL,NULL,NULL,NULL),(135436,'Experimental MF/BP Leaf Term GOA',NULL,2834,NULL,'GO:0042104|P:positive regulation of activated T cell proliferation|IDA; GO:2000768|P:positive regulation of nephron tubule epithelial cell differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(135437,'Experimental MF/BP Leaf Term GOA',NULL,2841,NULL,'GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135438,'Experimental MF/BP Leaf Term GOA',NULL,2842,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IMP; GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IMP; GO:2000811|P:negative regulation of anoikis|IDA',NULL,NULL,NULL,NULL,NULL),(135439,'Experimental MF/BP Leaf Term GOA',NULL,2843,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IMP; GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IMP; GO:2000811|P:negative regulation of anoikis|IMP; GO:1904906|P:positive regulation of endothelial cell-matrix adhesion via fibronectin|IMP; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IMP',NULL,NULL,NULL,NULL,NULL),(135440,'Experimental MF/BP Leaf Term GOA',NULL,2845,NULL,'GO:1905342|P:positive regulation of protein localization to kinetochore|IMP',NULL,NULL,NULL,NULL,NULL),(135441,'Experimental MF/BP Leaf Term GOA',NULL,2846,NULL,'GO:0070840|F:dynein complex binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0021591|P:ventricular system development|IMP',NULL,NULL,NULL,NULL,NULL),(135442,'Experimental MF/BP Leaf Term GOA',NULL,2848,NULL,'GO:0007099|P:centriole replication|IMP',NULL,NULL,NULL,NULL,NULL),(135443,'Experimental MF/BP Leaf Term GOA',NULL,2860,NULL,'GO:0038100|F:nodal binding|IPI',NULL,NULL,NULL,NULL,NULL),(135444,'Experimental MF/BP Leaf Term GOA',NULL,2866,NULL,'GO:0098633|F:collagen fibril binding|IDA; GO:1904027|P:negative regulation of collagen fibril organization|IDA',NULL,NULL,NULL,NULL,NULL),(135445,'Experimental MF/BP Leaf Term GOA',NULL,2870,NULL,'GO:0008401|F:retinoic acid 4-hydroxylase activity|IDA; GO:0001972|F:retinoic acid binding|IDA; GO:0034653|P:retinoic acid catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135446,'Experimental MF/BP Leaf Term GOA',NULL,2875,NULL,'GO:0004198|F:calcium-dependent cysteine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135447,'Experimental MF/BP Leaf Term GOA',NULL,2876,NULL,'GO:0018685|F:alkane 1-monooxygenase activity|IDA; GO:0050051|F:leukotriene-B4 20-monooxygenase activity|IDA; GO:0019373|P:epoxygenase P450 pathway|IDA; GO:0003091|P:renal water homeostasis|IEP',NULL,NULL,NULL,NULL,NULL),(135448,'Experimental MF/BP Leaf Term GOA',NULL,2878,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:1990440|P:positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress|IDA',NULL,NULL,NULL,NULL,NULL),(135449,'Experimental MF/BP Leaf Term GOA',NULL,2889,NULL,'GO:0072429|P:response to intra-S DNA damage checkpoint signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135450,'Experimental MF/BP Leaf Term GOA',NULL,2890,NULL,'GO:2000251|P:positive regulation of actin cytoskeleton reorganization|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(135451,'Experimental MF/BP Leaf Term GOA',NULL,2892,NULL,'GO:0032060|P:bleb assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135452,'Experimental MF/BP Leaf Term GOA',NULL,2897,NULL,'GO:0000338|P:protein deneddylation|IDA',NULL,NULL,NULL,NULL,NULL),(135453,'Experimental MF/BP Leaf Term GOA',NULL,2903,NULL,'GO:0007042|P:lysosomal lumen acidification|IMP; GO:1905146|P:lysosomal protein catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(135454,'Experimental MF/BP Leaf Term GOA',NULL,2906,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(135455,'Experimental MF/BP Leaf Term GOA',NULL,2918,NULL,'GO:0004698|F:calcium-dependent protein kinase C activity|IDA; GO:0031726|F:CCR1 chemokine receptor binding|IPI; GO:0031730|F:CCR5 chemokine receptor binding|IPI; GO:0008009|F:chemokine activity|IDA; GO:0071346|P:cellular response to interferon-gamma|IEP; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071356|P:cellular response to tumor necrosis factor|IEP; GO:0048245|P:eosinophil chemotaxis|IDA; GO:0043308|P:eosinophil degranulation|IDA; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IDA; GO:0002548|P:monocyte chemotaxis|IDA; GO:0043922|P:negative regulation by host of viral transcription|IDA; GO:0030593|P:neutrophil chemotaxis|IDA; GO:0001649|P:osteoblast differentiation|IEP; GO:2000503|P:positive regulation of natural killer cell chemotaxis|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IEP; GO:0043491|P:protein kinase B signaling|IMP; GO:0014808|P:release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|IDA',NULL,NULL,NULL,NULL,NULL),(135456,'Experimental MF/BP Leaf Term GOA',NULL,2921,NULL,'GO:0030593|P:neutrophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135457,'Experimental MF/BP Leaf Term GOA',NULL,2924,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(135458,'Experimental MF/BP Leaf Term GOA',NULL,2925,NULL,'GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(135459,'Experimental MF/BP Leaf Term GOA',NULL,2926,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IMP; GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(135460,'Experimental MF/BP Leaf Term GOA',NULL,2927,NULL,'GO:1902715|P:positive regulation of interferon-gamma secretion|IDA; GO:2000484|P:positive regulation of interleukin-8 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(135461,'Experimental MF/BP Leaf Term GOA',NULL,2928,NULL,'GO:0035646|P:endosome to melanosome transport|IMP; GO:0048757|P:pigment granule maturation|IMP; GO:2001046|P:positive regulation of integrin-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135462,'Experimental MF/BP Leaf Term GOA',NULL,2933,NULL,'GO:0071971|P:extracellular exosome assembly|IDA; GO:0003094|P:glomerular filtration|IEP; GO:0071425|P:hematopoietic stem cell proliferation|IMP; GO:0072254|P:metanephric glomerular mesangial cell differentiation|IEP; GO:1900035|P:negative regulation of cellular response to heat|IDA; GO:1900041|P:negative regulation of interleukin-2 secretion|IMP; GO:0045019|P:negative regulation of nitric oxide biosynthetic process|IDA; GO:0038001|P:paracrine signaling|IDA; GO:1900168|P:positive regulation of glial cell-derived neurotrophic factor secretion|IDA; GO:0071657|P:positive regulation of granulocyte colony-stimulating factor production|IDA; GO:2001214|P:positive regulation of vasculogenesis|IDA; GO:0060290|P:transdifferentiation|IEP; GO:0061042|P:vascular wound healing|IEP',NULL,NULL,NULL,NULL,NULL),(135463,'Experimental MF/BP Leaf Term GOA',NULL,2934,NULL,'GO:0071663|P:positive regulation of granzyme B production|IDA; GO:1902715|P:positive regulation of interferon-gamma secretion|IDA; GO:2000484|P:positive regulation of interleukin-8 secretion|IDA',NULL,NULL,NULL,NULL,NULL),(135464,'Experimental MF/BP Leaf Term GOA',NULL,2937,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(135465,'Experimental MF/BP Leaf Term GOA',NULL,2938,NULL,'GO:0045494|P:photoreceptor cell maintenance|IMP; GO:0008594|P:photoreceptor cell morphogenesis|IMP; GO:0035845|P:photoreceptor cell outer segment organization|IMP',NULL,NULL,NULL,NULL,NULL),(135466,'Experimental MF/BP Leaf Term GOA',NULL,2940,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0090675|P:intermicrovillar adhesion|IMP',NULL,NULL,NULL,NULL,NULL),(135467,'Experimental MF/BP Leaf Term GOA',NULL,2943,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0004693|F:cyclin-dependent protein serine/threonine kinase activity|EXP; GO:0004861|F:cyclin-dependent protein serine/threonine kinase inhibitor activity|IDA; GO:0071285|P:cellular response to lithium ion|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IDA; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(135468,'Experimental MF/BP Leaf Term GOA',NULL,2945,NULL,'GO:0004861|F:cyclin-dependent protein serine/threonine kinase inhibitor activity|IDA; GO:0000086|P:G2/M transition of mitotic cell cycle|IMP; GO:0030219|P:megakaryocyte differentiation|IEP; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135469,'Experimental MF/BP Leaf Term GOA',NULL,2946,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(135470,'Experimental MF/BP Leaf Term GOA',NULL,2949,NULL,'GO:0004415|F:hyalurononglucosaminidase activity|IDA; GO:0030214|P:hyaluronan catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135471,'Experimental MF/BP Leaf Term GOA',NULL,2954,NULL,'GO:0007099|P:centriole replication|IMP',NULL,NULL,NULL,NULL,NULL),(135472,'Experimental MF/BP Leaf Term GOA',NULL,2958,NULL,'GO:0030331|F:estrogen receptor binding|IPI; GO:0071392|P:cellular response to estradiol stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(135473,'Experimental MF/BP Leaf Term GOA',NULL,2959,NULL,'GO:0034454|P:microtubule anchoring at centrosome|IMP',NULL,NULL,NULL,NULL,NULL),(135474,'Experimental MF/BP Leaf Term GOA',NULL,2960,NULL,'GO:0060285|P:cilium-dependent cell motility|IMP; GO:0071910|P:determination of liver left/right asymmetry|IMP; GO:0035469|P:determination of pancreatic left/right asymmetry|IMP; GO:0060287|P:epithelial cilium movement involved in determination of left/right asymmetry|IMP; GO:0030317|P:flagellated sperm motility|IMP; GO:0001947|P:heart looping|IMP; GO:0036159|P:inner dynein arm assembly|IMP; GO:0044458|P:motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135475,'Experimental MF/BP Leaf Term GOA',NULL,2965,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0048245|P:eosinophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135476,'Experimental MF/BP Leaf Term GOA',NULL,2966,NULL,'GO:0097322|F:7SK snRNA binding|IDA; GO:0019085|P:early viral transcription|IDA; GO:0019086|P:late viral transcription|IDA',NULL,NULL,NULL,NULL,NULL),(135477,'Experimental MF/BP Leaf Term GOA',NULL,2970,NULL,'GO:0030883|F:endogenous lipid antigen binding|IDA; GO:0030884|F:exogenous lipid antigen binding|IDA',NULL,NULL,NULL,NULL,NULL),(135478,'Experimental MF/BP Leaf Term GOA',NULL,2972,NULL,'GO:0030169|F:low-density lipoprotein particle binding|IDA; GO:0005041|F:low-density lipoprotein particle receptor activity|IMP; GO:0150025|F:oxidised low-density lipoprotein particle receptor activity|IMP; GO:1904646|P:cellular response to amyloid-beta|IGI; GO:0071726|P:cellular response to diacyl bacterial lipopeptide|IDA; GO:0140052|P:cellular response to oxidised low-density lipoprotein particle stimulus|IMP; GO:0042953|P:lipoprotein transport|IMP; GO:0034383|P:low-density lipoprotein particle clearance|IMP; GO:0150024|P:oxidised low-density lipoprotein particle clearance|IMP; GO:0010744|P:positive regulation of macrophage derived foam cell differentiation|IMP; GO:0043497|P:regulation of protein heterodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(135479,'Experimental MF/BP Leaf Term GOA',NULL,2974,NULL,'GO:1990459|F:transferrin receptor binding|IPI; GO:0001618|F:virus receptor activity|IMP; GO:0043128|P:positive regulation of 1-phosphatidylinositol 4-kinase activity|IDA; GO:0030890|P:positive regulation of B cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(135480,'Experimental MF/BP Leaf Term GOA',NULL,2977,NULL,'GO:0003881|F:CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135481,'Experimental MF/BP Leaf Term GOA',NULL,2979,NULL,'GO:1903724|P:positive regulation of centriole elongation|IMP',NULL,NULL,NULL,NULL,NULL),(135482,'Experimental MF/BP Leaf Term GOA',NULL,2980,NULL,'GO:0051298|P:centrosome duplication|IMP',NULL,NULL,NULL,NULL,NULL),(135483,'Experimental MF/BP Leaf Term GOA',NULL,2982,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0045945|P:positive regulation of transcription by RNA polymerase III|IDA',NULL,NULL,NULL,NULL,NULL),(135484,'Experimental MF/BP Leaf Term GOA',NULL,2989,NULL,'GO:0036122|F:BMP binding|IDA; GO:0016015|F:morphogen activity|IDA; GO:0048263|P:determination of dorsal identity|IMP; GO:0007399|P:nervous system development|IMP; GO:0035582|P:sequestering of BMP in extracellular matrix|IDA',NULL,NULL,NULL,NULL,NULL),(135485,'Experimental MF/BP Leaf Term GOA',NULL,2990,NULL,'GO:0007288|P:sperm axoneme assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135486,'Experimental MF/BP Leaf Term GOA',NULL,2995,NULL,'GO:0007080|P:mitotic metaphase plate congression|IDA; GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(135487,'Experimental MF/BP Leaf Term GOA',NULL,2996,NULL,'GO:0030332|F:cyclin binding|IDA; GO:0004693|F:cyclin-dependent protein serine/threonine kinase activity|IDA; GO:0007099|P:centriole replication|IMP',NULL,NULL,NULL,NULL,NULL),(135488,'Experimental MF/BP Leaf Term GOA',NULL,2998,NULL,'GO:0019912|F:cyclin-dependent protein kinase activating kinase activity|IDA; GO:0004693|F:cyclin-dependent protein serine/threonine kinase activity|EXP; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0006977|P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IDA; GO:0000086|P:G2/M transition of mitotic cell cycle|IMP; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(135489,'Experimental MF/BP Leaf Term GOA',NULL,3005,NULL,'GO:0032050|F:clathrin heavy chain binding|IDA; GO:0005540|F:hyaluronic acid binding|IDA; GO:0004415|F:hyalurononglucosaminidase activity|IMP; GO:0030214|P:hyaluronan catabolic process|IMP; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IDA; GO:1900020|P:positive regulation of protein kinase C activity|IDA; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(135490,'Experimental MF/BP Leaf Term GOA',NULL,3007,NULL,'GO:0046848|F:hydroxyapatite binding|IDA',NULL,NULL,NULL,NULL,NULL),(135491,'Experimental MF/BP Leaf Term GOA',NULL,3012,NULL,'GO:0000179|F:rRNA (adenine-N6,N6-)-dimethyltransferase activity|IMP; GO:2000234|P:positive regulation of rRNA processing|IMP',NULL,NULL,NULL,NULL,NULL),(135492,'Experimental MF/BP Leaf Term GOA',NULL,3015,NULL,'GO:0007099|P:centriole replication|IMP',NULL,NULL,NULL,NULL,NULL),(135493,'Experimental MF/BP Leaf Term GOA',NULL,3027,NULL,'GO:0007417|P:central nervous system development|IMP; GO:0060324|P:face development|IMP; GO:0003007|P:heart morphogenesis|IMP; GO:0001701|P:in utero embryonic development|IMP; GO:0060173|P:limb development|IMP; GO:0043584|P:nose development|IMP; GO:0060041|P:retina development in camera-type eye|IMP; GO:0062009|P:secondary palate development|IMP',NULL,NULL,NULL,NULL,NULL),(135494,'Experimental MF/BP Leaf Term GOA',NULL,3029,NULL,'GO:1990120|P:messenger ribonucleoprotein complex assembly|IDA; GO:0110104|P:mRNA alternative polyadenylation|IMP; GO:0098789|P:pre-mRNA cleavage required for polyadenylation|IMP; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(135495,'Experimental MF/BP Leaf Term GOA',NULL,3032,NULL,'GO:0004087|F:carbamoyl-phosphate synthase (ammonia) activity|IMP; GO:0070409|P:carbamoyl phosphate biosynthetic process|IMP; GO:1903718|P:cellular response to ammonia|IMP; GO:0019433|P:triglyceride catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(135496,'Experimental MF/BP Leaf Term GOA',NULL,3033,NULL,'GO:0033781|F:cholesterol 24-hydroxylase activity|IDA; GO:0020037|F:heme binding|IDA; GO:0006707|P:cholesterol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135497,'Experimental MF/BP Leaf Term GOA',NULL,3037,NULL,'GO:0035497|F:cAMP response element binding|IDA; GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA; GO:0010944|P:negative regulation of transcription by competitive promoter binding|IDA',NULL,NULL,NULL,NULL,NULL),(135498,'Experimental MF/BP Leaf Term GOA',NULL,3038,NULL,'GO:0004095|F:carnitine O-palmitoyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135499,'Experimental MF/BP Leaf Term GOA',NULL,3041,NULL,'GO:0007420|P:brain development|IMP',NULL,NULL,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (135500,'Experimental MF/BP Leaf Term GOA',NULL,3042,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(135501,'Experimental MF/BP Leaf Term GOA',NULL,3045,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0070324|F:thyroid hormone binding|IDA; GO:0007605|P:sensory perception of sound|IMP; GO:0070327|P:thyroid hormone transport|IMP',NULL,NULL,NULL,NULL,NULL),(135502,'Experimental MF/BP Leaf Term GOA',NULL,3046,NULL,'GO:0002357|P:defense response to tumor cell|IDA',NULL,NULL,NULL,NULL,NULL),(135503,'Experimental MF/BP Leaf Term GOA',NULL,3054,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:1990182|P:exosomal secretion|IDA; GO:0000338|P:protein deneddylation|IDA',NULL,NULL,NULL,NULL,NULL),(135504,'Experimental MF/BP Leaf Term GOA',NULL,3055,NULL,'GO:0050699|F:WW domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(135505,'Experimental MF/BP Leaf Term GOA',NULL,3057,NULL,'GO:0007250|P:activation of NF-kappaB-inducing kinase activity|IMP; GO:0000338|P:protein deneddylation|IDA',NULL,NULL,NULL,NULL,NULL),(135506,'Experimental MF/BP Leaf Term GOA',NULL,3060,NULL,'GO:0004498|F:calcidiol 1-monooxygenase activity|IDA; GO:0036378|P:calcitriol biosynthetic process from calciol|IDA; GO:0046697|P:decidualization|IEP; GO:0010956|P:negative regulation of calcidiol 1-monooxygenase activity|IDA; GO:0010980|P:positive regulation of vitamin D 24-hydroxylase activity|IDA; GO:0070564|P:positive regulation of vitamin D receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135507,'Experimental MF/BP Leaf Term GOA',NULL,3063,NULL,'GO:0071456|P:cellular response to hypoxia|IDA; GO:0032869|P:cellular response to insulin stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(135508,'Experimental MF/BP Leaf Term GOA',NULL,3064,NULL,'GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(135509,'Experimental MF/BP Leaf Term GOA',NULL,3066,NULL,'GO:0020037|F:heme binding|IDA',NULL,NULL,NULL,NULL,NULL),(135510,'Experimental MF/BP Leaf Term GOA',NULL,3071,NULL,'GO:0008140|F:cAMP response element binding protein binding|IDA; GO:0031726|F:CCR1 chemokine receptor binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0050930|P:induction of positive chemotaxis|IDA; GO:2000326|P:negative regulation of nuclear receptor transcription coactivator activity|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IDA; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA; GO:0006990|P:positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|IDA',NULL,NULL,NULL,NULL,NULL),(135511,'Experimental MF/BP Leaf Term GOA',NULL,3074,NULL,'GO:0015056|F:corticotrophin-releasing factor receptor activity|IDA; GO:0071376|P:cellular response to corticotropin-releasing hormone stimulus|IDA; GO:0010578|P:regulation of adenylate cyclase activity involved in G protein-coupled receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135512,'Experimental MF/BP Leaf Term GOA',NULL,3077,NULL,'GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(135513,'Experimental MF/BP Leaf Term GOA',NULL,3081,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0010759|P:positive regulation of macrophage chemotaxis|IDA; GO:1902228|P:positive regulation of macrophage colony-stimulating factor signaling pathway|IDA; GO:0010744|P:positive regulation of macrophage derived foam cell differentiation|IDA; GO:1904141|P:positive regulation of microglial cell migration|IDA',NULL,NULL,NULL,NULL,NULL),(135514,'Experimental MF/BP Leaf Term GOA',NULL,3084,NULL,'GO:0033211|P:adiponectin-activated signaling pathway|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135515,'Experimental MF/BP Leaf Term GOA',NULL,3085,NULL,'GO:0098640|F:integrin binding involved in cell-matrix adhesion|IMP; GO:0070207|P:protein homotrimerization|IMP',NULL,NULL,NULL,NULL,NULL),(135516,'Experimental MF/BP Leaf Term GOA',NULL,3087,NULL,'GO:0032060|P:bleb assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135517,'Experimental MF/BP Leaf Term GOA',NULL,3096,NULL,'GO:0101020|F:estrogen 16-alpha-hydroxylase activity|IDA; GO:0002933|P:lipid hydroxylation|IDA',NULL,NULL,NULL,NULL,NULL),(135518,'Experimental MF/BP Leaf Term GOA',NULL,3099,NULL,'GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(135519,'Experimental MF/BP Leaf Term GOA',NULL,3103,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135520,'Experimental MF/BP Leaf Term GOA',NULL,3109,NULL,'GO:0002355|P:detection of tumor cell|IDA; GO:0002860|P:positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|IDA',NULL,NULL,NULL,NULL,NULL),(135521,'Experimental MF/BP Leaf Term GOA',NULL,3110,NULL,'GO:0008140|F:cAMP response element binding protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(135522,'Experimental MF/BP Leaf Term GOA',NULL,3115,NULL,'GO:0070966|P:nuclear-transcribed mRNA catabolic process, no-go decay|IMP',NULL,NULL,NULL,NULL,NULL),(135523,'Experimental MF/BP Leaf Term GOA',NULL,3118,NULL,'GO:0005229|F:intracellular calcium activated chloride channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(135524,'Experimental MF/BP Leaf Term GOA',NULL,3121,NULL,'GO:0006895|P:Golgi to endosome transport|IMP; GO:0090160|P:Golgi to lysosome transport|IDA',NULL,NULL,NULL,NULL,NULL),(135525,'Experimental MF/BP Leaf Term GOA',NULL,3123,NULL,'GO:0015250|F:water channel activity|EXP; GO:0071280|P:cellular response to copper ion|IDA; GO:0071288|P:cellular response to mercury ion|IDA; GO:0015793|P:glycerol transport|IDA',NULL,NULL,NULL,NULL,NULL),(135526,'Experimental MF/BP Leaf Term GOA',NULL,3124,NULL,'GO:0046982|F:protein heterodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(135527,'Experimental MF/BP Leaf Term GOA',NULL,3125,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(135528,'Experimental MF/BP Leaf Term GOA',NULL,3126,NULL,'GO:1903292|P:protein localization to Golgi membrane|IGI',NULL,NULL,NULL,NULL,NULL),(135529,'Experimental MF/BP Leaf Term GOA',NULL,3130,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(135530,'Experimental MF/BP Leaf Term GOA',NULL,3132,NULL,'GO:0071224|P:cellular response to peptidoglycan|IDA; GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IDA; GO:1904209|P:positive regulation of chemokine (C-C motif) ligand 2 secretion|IDA; GO:0071651|P:positive regulation of chemokine (C-C motif) ligand 5 production|IDA; GO:2001184|P:positive regulation of interleukin-12 secretion|IDA; GO:1900042|P:positive regulation of interleukin-2 secretion|IDA; GO:2000778|P:positive regulation of interleukin-6 secretion|IDA; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135531,'Experimental MF/BP Leaf Term GOA',NULL,3136,NULL,'GO:0035735|P:intraciliary transport involved in cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135532,'Experimental MF/BP Leaf Term GOA',NULL,3142,NULL,'GO:0042254|P:ribosome biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135533,'Experimental MF/BP Leaf Term GOA',NULL,3143,NULL,'GO:0030520|P:intracellular estrogen receptor signaling pathway|IMP; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IMP',NULL,NULL,NULL,NULL,NULL),(135534,'Experimental MF/BP Leaf Term GOA',NULL,3144,NULL,'GO:0004139|F:deoxyribose-phosphate aldolase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135535,'Experimental MF/BP Leaf Term GOA',NULL,3145,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135536,'Experimental MF/BP Leaf Term GOA',NULL,3146,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0071712|P:ER-associated misfolded protein catabolic process|IMP; GO:0031648|P:protein destabilization|IMP; GO:0030970|P:retrograde protein transport, ER to cytosol|IDA',NULL,NULL,NULL,NULL,NULL),(135537,'Experimental MF/BP Leaf Term GOA',NULL,3148,NULL,'GO:0004303|F:estradiol 17-beta-dehydrogenase activity|IDA; GO:0047035|F:testosterone dehydrogenase (NAD+) activity|IDA',NULL,NULL,NULL,NULL,NULL),(135538,'Experimental MF/BP Leaf Term GOA',NULL,3149,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0008266|F:poly(U) RNA binding|IDA; GO:0010587|P:miRNA catabolic process|IDA; GO:0051306|P:mitotic sister chromatid separation|IMP',NULL,NULL,NULL,NULL,NULL),(135539,'Experimental MF/BP Leaf Term GOA',NULL,3152,NULL,'GO:0005524|F:ATP binding|IDA; GO:0005516|F:calmodulin binding|IDA; GO:0043276|P:anoikis|IMP; GO:2000424|P:positive regulation of eosinophil chemotaxis|IMP; GO:0090023|P:positive regulation of neutrophil chemotaxis|IMP',NULL,NULL,NULL,NULL,NULL),(135540,'Experimental MF/BP Leaf Term GOA',NULL,3154,NULL,'GO:0001530|F:lipopolysaccharide binding|IDA; GO:0061760|P:antifungal innate immune response|IMP; GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0050830|P:defense response to Gram-positive bacterium|IMP; GO:1904468|P:negative regulation of tumor necrosis factor secretion|IMP',NULL,NULL,NULL,NULL,NULL),(135541,'Experimental MF/BP Leaf Term GOA',NULL,3161,NULL,'GO:0010457|P:centriole-centriole cohesion|IMP; GO:0034454|P:microtubule anchoring at centrosome|IMP; GO:1990535|P:neuron projection maintenance|IMP; GO:1905515|P:non-motile cilium assembly|IMP; GO:0021517|P:ventral spinal cord development|IMP',NULL,NULL,NULL,NULL,NULL),(135542,'Experimental MF/BP Leaf Term GOA',NULL,3163,NULL,'GO:0008140|F:cAMP response element binding protein binding|IPI; GO:0043522|F:leucine zipper domain binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0045454|P:cell redox homeostasis|IDA; GO:0042789|P:mRNA transcription by RNA polymerase II|IDA; GO:0032792|P:negative regulation of CREB transcription factor activity|IDA; GO:2000016|P:negative regulation of determination of dorsal identity|IDA; GO:0051898|P:negative regulation of protein kinase B signaling|IMP; GO:1903026|P:negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding|IDA; GO:1990440|P:positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress|IDA',NULL,NULL,NULL,NULL,NULL),(135543,'Experimental MF/BP Leaf Term GOA',NULL,3168,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0050830|P:defense response to Gram-positive bacterium|IMP',NULL,NULL,NULL,NULL,NULL),(135544,'Experimental MF/BP Leaf Term GOA',NULL,3170,NULL,'GO:0050681|F:androgen receptor binding|IDA; GO:0035500|F:MH2 domain binding|IPI; GO:0070878|F:primary miRNA binding|IDA; GO:0070412|F:R-SMAD binding|IPI; GO:0030520|P:intracellular estrogen receptor signaling pathway|IMP; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(135545,'Experimental MF/BP Leaf Term GOA',NULL,3172,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135546,'Experimental MF/BP Leaf Term GOA',NULL,3175,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135547,'Experimental MF/BP Leaf Term GOA',NULL,3178,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0042826|F:histone deacetylase binding|IPI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:1904864|P:negative regulation of beta-catenin-TCF complex assembly|IDA; GO:0021915|P:neural tube development|IMP',NULL,NULL,NULL,NULL,NULL),(135548,'Experimental MF/BP Leaf Term GOA',NULL,3179,NULL,'GO:0042169|F:SH2 domain binding|IDA; GO:0008307|F:structural constituent of muscle|IMP; GO:0017166|F:vinculin binding|IPI; GO:0007016|P:cytoskeletal anchoring at plasma membrane|IMP; GO:0051898|P:negative regulation of protein kinase B signaling|IMP; GO:1904261|P:positive regulation of basement membrane assembly involved in embryonic body morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135549,'Experimental MF/BP Leaf Term GOA',NULL,3183,NULL,'GO:0004534|F:5\'-3\' exoribonuclease activity|IMP; GO:0050072|F:m7G(5\')pppN diphosphatase activity|IDA; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(135550,'Experimental MF/BP Leaf Term GOA',NULL,3186,NULL,'GO:0004853|F:uroporphyrinogen decarboxylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135551,'Experimental MF/BP Leaf Term GOA',NULL,3187,NULL,'GO:0050038|F:L-xylulose reductase (NADP+) activity|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(135552,'Experimental MF/BP Leaf Term GOA',NULL,3188,NULL,'GO:0051865|P:protein autoubiquitination|IDA; GO:0070914|P:UV-damage excision repair|IDA',NULL,NULL,NULL,NULL,NULL),(135553,'Experimental MF/BP Leaf Term GOA',NULL,3195,NULL,'GO:0016403|F:dimethylargininase activity|IDA; GO:0043116|P:negative regulation of vascular permeability|IDA',NULL,NULL,NULL,NULL,NULL),(135554,'Experimental MF/BP Leaf Term GOA',NULL,3196,NULL,'GO:0036468|F:L-dopa decarboxylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135555,'Experimental MF/BP Leaf Term GOA',NULL,3198,NULL,'GO:0030317|P:flagellated sperm motility|IMP',NULL,NULL,NULL,NULL,NULL),(135556,'Experimental MF/BP Leaf Term GOA',NULL,3200,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0071360|P:cellular response to exogenous dsRNA|IMP; GO:0009597|P:detection of virus|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IMP; GO:1902741|P:positive regulation of interferon-alpha secretion|IMP; GO:0035549|P:positive regulation of interferon-beta secretion|IMP; GO:2000778|P:positive regulation of interleukin-6 secretion|IMP; GO:1904469|P:positive regulation of tumor necrosis factor secretion|IMP; GO:0039529|P:RIG-I signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135557,'Experimental MF/BP Leaf Term GOA',NULL,3201,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0019732|P:antifungal humoral response|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(135558,'Experimental MF/BP Leaf Term GOA',NULL,3203,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135559,'Experimental MF/BP Leaf Term GOA',NULL,3206,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA; GO:0050852|P:T cell receptor signaling pathway|IMP; GO:0035745|P:T-helper 2 cell cytokine production|IMP',NULL,NULL,NULL,NULL,NULL),(135560,'Experimental MF/BP Leaf Term GOA',NULL,3208,NULL,'GO:1904262|P:negative regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135561,'Experimental MF/BP Leaf Term GOA',NULL,3210,NULL,'GO:0031731|F:CCR6 chemokine receptor binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(135562,'Experimental MF/BP Leaf Term GOA',NULL,3211,NULL,'GO:0097718|F:disordered domain specific binding|IPI; GO:0030263|P:apoptotic chromosome condensation|IDA; GO:0006309|P:apoptotic DNA fragmentation|IDA',NULL,NULL,NULL,NULL,NULL),(135563,'Experimental MF/BP Leaf Term GOA',NULL,3213,NULL,'GO:0031727|F:CCR2 chemokine receptor binding|IDA; GO:0008201|F:heparin binding|IDA; GO:0001530|F:lipopolysaccharide binding|IDA; GO:0061760|P:antifungal innate immune response|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(135564,'Experimental MF/BP Leaf Term GOA',NULL,3220,NULL,'GO:1900758|P:negative regulation of D-amino-acid oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135565,'Experimental MF/BP Leaf Term GOA',NULL,3223,NULL,'GO:0033962|P:cytoplasmic mRNA processing body assembly|IDA; GO:0019074|P:viral RNA genome packaging|IMP',NULL,NULL,NULL,NULL,NULL),(135566,'Experimental MF/BP Leaf Term GOA',NULL,3225,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(135567,'Experimental MF/BP Leaf Term GOA',NULL,3228,NULL,'GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(135568,'Experimental MF/BP Leaf Term GOA',NULL,3229,NULL,'GO:0008494|F:translation activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(135569,'Experimental MF/BP Leaf Term GOA',NULL,3234,NULL,'GO:1903608|P:protein localization to cytoplasmic stress granule|IMP',NULL,NULL,NULL,NULL,NULL),(135570,'Experimental MF/BP Leaf Term GOA',NULL,3235,NULL,'GO:0090102|P:cochlea development|IGI; GO:0090103|P:cochlea morphogenesis|IGI; GO:1905748|P:hard palate morphogenesis|IGI; GO:0098583|P:learned vocalization behavior|IGI; GO:0071626|P:mastication|IGI; GO:1905747|P:negative regulation of saliva secretion|IGI; GO:0050885|P:neuromuscular process controlling balance|IGI; GO:0007356|P:thorax and anterior abdomen determination|IGI; GO:0021559|P:trigeminal nerve development|IGI; GO:0021650|P:vestibulocochlear nerve formation|IGI',NULL,NULL,NULL,NULL,NULL),(135571,'Experimental MF/BP Leaf Term GOA',NULL,3236,NULL,'GO:0004586|F:ornithine decarboxylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135572,'Experimental MF/BP Leaf Term GOA',NULL,3238,NULL,'GO:0038062|F:protein tyrosine kinase collagen receptor activity|IDA; GO:0038063|P:collagen-activated tyrosine kinase receptor signaling pathway|IDA; GO:0038083|P:peptidyl-tyrosine autophosphorylation|IDA; GO:0061302|P:smooth muscle cell-matrix adhesion|IMP',NULL,NULL,NULL,NULL,NULL),(135573,'Experimental MF/BP Leaf Term GOA',NULL,3240,NULL,'GO:0030507|F:spectrin binding|IDA; GO:0071320|P:cellular response to cAMP|IDA',NULL,NULL,NULL,NULL,NULL),(135574,'Experimental MF/BP Leaf Term GOA',NULL,3241,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA; GO:0032483|P:regulation of Rab protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(135575,'Experimental MF/BP Leaf Term GOA',NULL,3242,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135576,'Experimental MF/BP Leaf Term GOA',NULL,3243,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135577,'Experimental MF/BP Leaf Term GOA',NULL,3249,NULL,'GO:0030507|F:spectrin binding|IDA',NULL,NULL,NULL,NULL,NULL),(135578,'Experimental MF/BP Leaf Term GOA',NULL,3250,NULL,'GO:0004132|F:dCMP deaminase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135579,'Experimental MF/BP Leaf Term GOA',NULL,3251,NULL,'GO:0047840|F:dCTP diphosphatase activity|IDA; GO:0006253|P:dCTP catabolic process|IMP; GO:0042262|P:DNA protection|IMP',NULL,NULL,NULL,NULL,NULL),(135580,'Experimental MF/BP Leaf Term GOA',NULL,3252,NULL,'GO:0097202|P:activation of cysteine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135581,'Experimental MF/BP Leaf Term GOA',NULL,3254,NULL,'GO:0036313|F:phosphatidylinositol 3-kinase catalytic subunit binding|IPI; GO:0036312|F:phosphatidylinositol 3-kinase regulatory subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(135582,'Experimental MF/BP Leaf Term GOA',NULL,3256,NULL,'GO:0001540|F:amyloid-beta binding|IPI; GO:0010711|P:negative regulation of collagen catabolic process|IEP; GO:0060311|P:negative regulation of elastin catabolic process|IMP; GO:0010716|P:negative regulation of extracellular matrix disassembly|IEP',NULL,NULL,NULL,NULL,NULL),(135583,'Experimental MF/BP Leaf Term GOA',NULL,3258,NULL,'GO:1904628|P:cellular response to phorbol 13-acetate 12-myristate|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002548|P:monocyte chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135584,'Experimental MF/BP Leaf Term GOA',NULL,3259,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(135585,'Experimental MF/BP Leaf Term GOA',NULL,3260,NULL,'GO:0030331|F:estrogen receptor binding|IDA; GO:0036159|P:inner dynein arm assembly|IMP; GO:0036158|P:outer dynein arm assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135586,'Experimental MF/BP Leaf Term GOA',NULL,3262,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0010944|P:negative regulation of transcription by competitive promoter binding|IMP',NULL,NULL,NULL,NULL,NULL),(135587,'Experimental MF/BP Leaf Term GOA',NULL,3269,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(135588,'Experimental MF/BP Leaf Term GOA',NULL,3270,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(135589,'Experimental MF/BP Leaf Term GOA',NULL,3271,NULL,'GO:0045505|F:dynein intermediate chain binding|IPI; GO:0036159|P:inner dynein arm assembly|IMP; GO:0036158|P:outer dynein arm assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135590,'Experimental MF/BP Leaf Term GOA',NULL,3273,NULL,'GO:0005524|F:ATP binding|IDA; GO:0005516|F:calmodulin binding|IDA; GO:0017075|F:syntaxin-1 binding|IPI; GO:0071346|P:cellular response to interferon-gamma|IDA',NULL,NULL,NULL,NULL,NULL),(135591,'Experimental MF/BP Leaf Term GOA',NULL,3275,NULL,'GO:0044458|P:motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135592,'Experimental MF/BP Leaf Term GOA',NULL,3277,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IMP; GO:0071223|P:cellular response to lipoteichoic acid|IMP; GO:0002741|P:positive regulation of cytokine secretion involved in immune response|IMP; GO:0090026|P:positive regulation of monocyte chemotaxis|IMP',NULL,NULL,NULL,NULL,NULL),(135593,'Experimental MF/BP Leaf Term GOA',NULL,3279,NULL,'GO:0007286|P:spermatid development|IMP',NULL,NULL,NULL,NULL,NULL),(135594,'Experimental MF/BP Leaf Term GOA',NULL,3280,NULL,'GO:0001530|F:lipopolysaccharide binding|IDA; GO:0061760|P:antifungal innate immune response|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(135595,'Experimental MF/BP Leaf Term GOA',NULL,3282,NULL,'GO:0030331|F:estrogen receptor binding|IPI; GO:1990244|F:histone kinase activity (H2A-T120 specific)|IDA; GO:0035212|P:cell competition in a multicellular organism|IMP; GO:1990245|P:histone H2A-T120 phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135596,'Experimental MF/BP Leaf Term GOA',NULL,3288,NULL,'GO:0030331|F:estrogen receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(135597,'Experimental MF/BP Leaf Term GOA',NULL,3290,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IMP; GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0050830|P:defense response to Gram-positive bacterium|IMP',NULL,NULL,NULL,NULL,NULL),(135598,'Experimental MF/BP Leaf Term GOA',NULL,3291,NULL,'GO:0004351|F:glutamate decarboxylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135599,'Experimental MF/BP Leaf Term GOA',NULL,3293,NULL,'GO:0030317|P:flagellated sperm motility|IMP; GO:0036158|P:outer dynein arm assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135600,'Experimental MF/BP Leaf Term GOA',NULL,3295,NULL,'GO:0005314|F:high-affinity glutamate transmembrane transporter activity|IDA; GO:1902476|P:chloride transmembrane transport|IDA; GO:0070779|P:D-aspartate import across plasma membrane|IDA; GO:0140009|P:L-aspartate import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(135601,'Experimental MF/BP Leaf Term GOA',NULL,3297,NULL,'GO:0005314|F:high-affinity glutamate transmembrane transporter activity|IDA; GO:0070779|P:D-aspartate import across plasma membrane|IDA; GO:0070207|P:protein homotrimerization|IDA',NULL,NULL,NULL,NULL,NULL),(135602,'Experimental MF/BP Leaf Term GOA',NULL,3298,NULL,'GO:0004769|F:steroid delta-isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135603,'Experimental MF/BP Leaf Term GOA',NULL,3301,NULL,'GO:0004375|F:glycine dehydrogenase (decarboxylating) activity|IDA',NULL,NULL,NULL,NULL,NULL),(135604,'Experimental MF/BP Leaf Term GOA',NULL,3302,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(135605,'Experimental MF/BP Leaf Term GOA',NULL,3303,NULL,'GO:0070628|F:proteasome binding|IDA',NULL,NULL,NULL,NULL,NULL),(135606,'Experimental MF/BP Leaf Term GOA',NULL,3305,NULL,'GO:0005545|F:1-phosphatidylinositol binding|IDA; GO:0030742|F:GTP-dependent protein binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135607,'Experimental MF/BP Leaf Term GOA',NULL,3306,NULL,'GO:0031708|F:endothelin B receptor binding|IPI; GO:0048246|P:macrophage chemotaxis|IDA; GO:0030593|P:neutrophil chemotaxis|IDA; GO:0060585|P:positive regulation of prostaglandin-endoperoxide synthase activity|IMP; GO:0003100|P:regulation of systemic arterial blood pressure by endothelin|IDA; GO:0014826|P:vein smooth muscle contraction|IDA',NULL,NULL,NULL,NULL,NULL),(135608,'Experimental MF/BP Leaf Term GOA',NULL,3308,NULL,'GO:0004383|F:guanylate cyclase activity|IDA; GO:0006182|P:cGMP biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135609,'Experimental MF/BP Leaf Term GOA',NULL,3315,NULL,'GO:0060389|P:pathway-restricted SMAD protein phosphorylation|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135610,'Experimental MF/BP Leaf Term GOA',NULL,3316,NULL,'GO:0002115|P:store-operated calcium entry|IMP',NULL,NULL,NULL,NULL,NULL),(135611,'Experimental MF/BP Leaf Term GOA',NULL,3317,NULL,'GO:0032237|P:activation of store-operated calcium channel activity|IMP; GO:0002115|P:store-operated calcium entry|IMP',NULL,NULL,NULL,NULL,NULL),(135612,'Experimental MF/BP Leaf Term GOA',NULL,3319,NULL,'GO:0046716|P:muscle cell cellular homeostasis|IDA; GO:0051898|P:negative regulation of protein kinase B signaling|IDA; GO:0048632|P:negative regulation of skeletal muscle tissue growth|IMP',NULL,NULL,NULL,NULL,NULL),(135613,'Experimental MF/BP Leaf Term GOA',NULL,3321,NULL,'GO:0005094|F:Rho GDP-dissociation inhibitor activity|IDA; GO:1901164|P:negative regulation of trophoblast cell migration|IDA',NULL,NULL,NULL,NULL,NULL),(135614,'Experimental MF/BP Leaf Term GOA',NULL,3322,NULL,'GO:1990000|P:amyloid fibril formation|IMP; GO:0097284|P:hepatocyte apoptotic process|IMP; GO:1902174|P:positive regulation of keratinocyte apoptotic process|IMP; GO:0031648|P:protein destabilization|IMP; GO:0042989|P:sequestering of actin monomers|IMP',NULL,NULL,NULL,NULL,NULL),(135615,'Experimental MF/BP Leaf Term GOA',NULL,3325,NULL,'GO:0042256|P:mature ribosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135616,'Experimental MF/BP Leaf Term GOA',NULL,3329,NULL,'GO:0042826|F:histone deacetylase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135617,'Experimental MF/BP Leaf Term GOA',NULL,3330,NULL,'GO:0046875|F:ephrin receptor binding|IDA; GO:0048013|P:ephrin receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135618,'Experimental MF/BP Leaf Term GOA',NULL,3342,NULL,'GO:0036374|F:glutathione hydrolase activity|IDA; GO:0002951|F:leukotriene-C(4) hydrolase|IDA; GO:0000048|F:peptidyltransferase activity|IDA; GO:0006751|P:glutathione catabolic process|IDA; GO:1901750|P:leukotriene D4 biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135619,'Experimental MF/BP Leaf Term GOA',NULL,3345,NULL,'GO:1990481|P:mRNA pseudouridine synthesis|IMP',NULL,NULL,NULL,NULL,NULL),(135620,'Experimental MF/BP Leaf Term GOA',NULL,3347,NULL,'GO:0020037|F:heme binding|IDA',NULL,NULL,NULL,NULL,NULL),(135621,'Experimental MF/BP Leaf Term GOA',NULL,3350,NULL,'GO:0003883|F:CTP synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135622,'Experimental MF/BP Leaf Term GOA',NULL,3351,NULL,'GO:0003883|F:CTP synthase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135623,'Experimental MF/BP Leaf Term GOA',NULL,3353,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0016559|P:peroxisome fission|IDA; GO:0044375|P:regulation of peroxisome size|IDA',NULL,NULL,NULL,NULL,NULL),(135624,'Experimental MF/BP Leaf Term GOA',NULL,3355,NULL,'GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IMP; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA',NULL,NULL,NULL,NULL,NULL),(135625,'Experimental MF/BP Leaf Term GOA',NULL,3356,NULL,'GO:0050713|P:negative regulation of interleukin-1 beta secretion|IMP; GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IMP; GO:1900226|P:negative regulation of NLRP3 inflammasome complex assembly|IMP; GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135626,'Experimental MF/BP Leaf Term GOA',NULL,3357,NULL,'GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135627,'Experimental MF/BP Leaf Term GOA',NULL,3358,NULL,'GO:0035458|P:cellular response to interferon-beta|IDA',NULL,NULL,NULL,NULL,NULL),(135628,'Experimental MF/BP Leaf Term GOA',NULL,3359,NULL,'GO:1903259|P:exon-exon junction complex disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(135629,'Experimental MF/BP Leaf Term GOA',NULL,3360,NULL,'GO:0004151|F:dihydroorotase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0006207|P:\'de novo\' pyrimidine nucleobase biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135630,'Experimental MF/BP Leaf Term GOA',NULL,3367,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0016559|P:peroxisome fission|IDA; GO:0044375|P:regulation of peroxisome size|IDA',NULL,NULL,NULL,NULL,NULL),(135631,'Experimental MF/BP Leaf Term GOA',NULL,3368,NULL,'GO:0016559|P:peroxisome fission|IDA; GO:0044375|P:regulation of peroxisome size|IDA',NULL,NULL,NULL,NULL,NULL),(135632,'Experimental MF/BP Leaf Term GOA',NULL,3375,NULL,'GO:0033130|F:acetylcholine receptor binding|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA',NULL,NULL,NULL,NULL,NULL),(135633,'Experimental MF/BP Leaf Term GOA',NULL,3379,NULL,'GO:0004667|F:prostaglandin-D synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135634,'Experimental MF/BP Leaf Term GOA',NULL,3380,NULL,'GO:0020037|F:heme binding|IDA; GO:0008116|F:prostaglandin-I synthase activity|IDA; GO:0071456|P:cellular response to hypoxia|IDA; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071354|P:cellular response to interleukin-6|IEP; GO:0045019|P:negative regulation of nitric oxide biosynthetic process|IDA; GO:0035360|P:positive regulation of peroxisome proliferator activated receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135635,'Experimental MF/BP Leaf Term GOA',NULL,3382,NULL,'GO:0004991|F:parathyroid hormone receptor activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135636,'Experimental MF/BP Leaf Term GOA',NULL,3384,NULL,'GO:1902206|P:negative regulation of interleukin-2-mediated signaling pathway|IMP; GO:1902215|P:negative regulation of interleukin-4-mediated signaling pathway|IMP; GO:0070104|P:negative regulation of interleukin-6-mediated signaling pathway|IMP; GO:0042532|P:negative regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(135637,'Experimental MF/BP Leaf Term GOA',NULL,3385,NULL,'GO:0005158|F:insulin receptor binding|IPI; GO:0004726|F:non-membrane spanning protein tyrosine phosphatase activity|IMP; GO:0001784|F:phosphotyrosine residue binding|IMP; GO:0005070|F:SH3/SH2 adaptor activity|IPI; GO:0036302|P:atrioventricular canal development|IMP; GO:0007420|P:brain development|IMP; GO:0071364|P:cellular response to epidermal growth factor stimulus|IMP; GO:0048013|P:ephrin receptor signaling pathway|IDA; GO:0060325|P:face morphogenesis|IMP; GO:0046326|P:positive regulation of glucose import|IDA',NULL,NULL,NULL,NULL,NULL),(135638,'Experimental MF/BP Leaf Term GOA',NULL,3387,NULL,'GO:0005524|F:ATP binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0051721|F:protein phosphatase 2A binding|IDA; GO:0008160|F:protein tyrosine phosphatase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(135639,'Experimental MF/BP Leaf Term GOA',NULL,3391,NULL,'GO:0099560|P:synaptic membrane adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(135640,'Experimental MF/BP Leaf Term GOA',NULL,3392,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0045295|F:gamma-catenin binding|IPI; GO:0048041|P:focal adhesion assembly|IMP; GO:0010839|P:negative regulation of keratinocyte proliferation|IDA; GO:0034394|P:protein localization to cell surface|IDA',NULL,NULL,NULL,NULL,NULL),(135641,'Experimental MF/BP Leaf Term GOA',NULL,3393,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:2000049|P:positive regulation of cell-cell adhesion mediated by cadherin|IDA; GO:0034394|P:protein localization to cell surface|IDA',NULL,NULL,NULL,NULL,NULL),(135642,'Experimental MF/BP Leaf Term GOA',NULL,3399,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(135643,'Experimental MF/BP Leaf Term GOA',NULL,3401,NULL,'GO:0031489|F:myosin V binding|IPI',NULL,NULL,NULL,NULL,NULL),(135644,'Experimental MF/BP Leaf Term GOA',NULL,3402,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(135645,'Experimental MF/BP Leaf Term GOA',NULL,3403,NULL,'GO:0005524|F:ATP binding|IDA; GO:0070182|F:DNA polymerase binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0072757|P:cellular response to camptothecin|IDA',NULL,NULL,NULL,NULL,NULL),(135646,'Experimental MF/BP Leaf Term GOA',NULL,3404,NULL,'GO:0010792|P:DNA double-strand break processing involved in repair via single-strand annealing|IDA',NULL,NULL,NULL,NULL,NULL),(135647,'Experimental MF/BP Leaf Term GOA',NULL,3405,NULL,'GO:0007190|P:activation of adenylate cyclase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135648,'Experimental MF/BP Leaf Term GOA',NULL,3406,NULL,'GO:0007252|P:I-kappaB phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135649,'Experimental MF/BP Leaf Term GOA',NULL,3407,NULL,'GO:0070412|F:R-SMAD binding|IPI',NULL,NULL,NULL,NULL,NULL),(135650,'Experimental MF/BP Leaf Term GOA',NULL,3408,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0071157|P:negative regulation of cell cycle arrest|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(135651,'Experimental MF/BP Leaf Term GOA',NULL,3410,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0097278|P:complement-dependent cytotoxicity|IMP; GO:1990182|P:exosomal secretion|IMP; GO:1903435|P:positive regulation of constitutive secretory pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135652,'Experimental MF/BP Leaf Term GOA',NULL,3411,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0031489|F:myosin V binding|IPI',NULL,NULL,NULL,NULL,NULL),(135653,'Experimental MF/BP Leaf Term GOA',NULL,3412,NULL,'GO:1903434|P:negative regulation of constitutive secretory pathway|IMP; GO:2000156|P:regulation of retrograde vesicle-mediated transport, Golgi to ER|IMP',NULL,NULL,NULL,NULL,NULL),(135654,'Experimental MF/BP Leaf Term GOA',NULL,3414,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA; GO:2000773|P:negative regulation of cellular senescence|IMP',NULL,NULL,NULL,NULL,NULL),(135655,'Experimental MF/BP Leaf Term GOA',NULL,3417,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0035198|F:miRNA binding|IDA; GO:0097158|F:pre-mRNA intronic pyrimidine-rich binding|IDA; GO:0002192|P:IRES-dependent translational initiation of linear mRNA|IDA; GO:0035278|P:miRNA mediated inhibition of translation|IDA; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(135656,'Experimental MF/BP Leaf Term GOA',NULL,3422,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IMP',NULL,NULL,NULL,NULL,NULL),(135657,'Experimental MF/BP Leaf Term GOA',NULL,3425,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(135658,'Experimental MF/BP Leaf Term GOA',NULL,3426,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135659,'Experimental MF/BP Leaf Term GOA',NULL,3432,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0090557|P:establishment of endothelial intestinal barrier|IMP',NULL,NULL,NULL,NULL,NULL),(135660,'Experimental MF/BP Leaf Term GOA',NULL,3433,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0071320|P:cellular response to cAMP|IDA; GO:0032486|P:Rap protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(135661,'Experimental MF/BP Leaf Term GOA',NULL,3437,NULL,'GO:0071300|P:cellular response to retinoic acid|IMP; GO:0007158|P:neuron cell-cell adhesion|IMP; GO:2001241|P:positive regulation of extrinsic apoptotic signaling pathway in absence of ligand|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135662,'Experimental MF/BP Leaf Term GOA',NULL,3441,NULL,'GO:0070402|F:NADPH binding|IDA; GO:0003960|F:NADPH:quinone reductase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(135663,'Experimental MF/BP Leaf Term GOA',NULL,3443,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0031489|F:myosin V binding|IPI',NULL,NULL,NULL,NULL,NULL),(135664,'Experimental MF/BP Leaf Term GOA',NULL,3444,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0045022|P:early endosome to late endosome transport|IMP; GO:2000286|P:receptor internalization involved in canonical Wnt signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135665,'Experimental MF/BP Leaf Term GOA',NULL,3445,NULL,'GO:0035650|F:AP-1 adaptor complex binding|IPI; GO:0035651|F:AP-3 adaptor complex binding|IPI; GO:0036461|F:BLOC-2 complex binding|IPI; GO:0030742|F:GTP-dependent protein binding|IPI; GO:0035646|P:endosome to melanosome transport|IMP; GO:1903232|P:melanosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135666,'Experimental MF/BP Leaf Term GOA',NULL,3446,NULL,'GO:0031489|F:myosin V binding|IPI',NULL,NULL,NULL,NULL,NULL),(135667,'Experimental MF/BP Leaf Term GOA',NULL,3449,NULL,'GO:0005525|F:GTP binding|IDA; GO:0006888|P:ER to Golgi vesicle-mediated transport|IGI; GO:0019068|P:virion assembly|IGI',NULL,NULL,NULL,NULL,NULL),(135668,'Experimental MF/BP Leaf Term GOA',NULL,3450,NULL,'GO:0019003|F:GDP binding|IDA',NULL,NULL,NULL,NULL,NULL),(135669,'Experimental MF/BP Leaf Term GOA',NULL,3456,NULL,'GO:0008143|F:poly(A) binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0060391|P:positive regulation of SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(135670,'Experimental MF/BP Leaf Term GOA',NULL,3460,NULL,'GO:0032964|P:collagen biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(135671,'Experimental MF/BP Leaf Term GOA',NULL,3463,NULL,'GO:0035198|F:miRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(135672,'Experimental MF/BP Leaf Term GOA',NULL,3464,NULL,'GO:0008266|F:poly(U) RNA binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(135673,'Experimental MF/BP Leaf Term GOA',NULL,3466,NULL,'GO:0045292|P:mRNA cis splicing, via spliceosome|IDA; GO:0042307|P:positive regulation of protein import into nucleus|IDA; GO:0000060|P:protein import into nucleus, translocation|IDA',NULL,NULL,NULL,NULL,NULL),(135674,'Experimental MF/BP Leaf Term GOA',NULL,3467,NULL,'GO:0006607|P:NLS-bearing protein import into nucleus|IMP',NULL,NULL,NULL,NULL,NULL),(135675,'Experimental MF/BP Leaf Term GOA',NULL,3473,NULL,'GO:0031849|F:olfactory receptor binding|IMP',NULL,NULL,NULL,NULL,NULL),(135676,'Experimental MF/BP Leaf Term GOA',NULL,3475,NULL,'GO:1900745|P:positive regulation of p38MAPK cascade|IDA',NULL,NULL,NULL,NULL,NULL),(135677,'Experimental MF/BP Leaf Term GOA',NULL,3481,NULL,'GO:0016971|F:flavin-linked sulfhydryl oxidase activity|IDA; GO:0003756|F:protein disulfide isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135678,'Experimental MF/BP Leaf Term GOA',NULL,3483,NULL,'GO:0035526|P:retrograde transport, plasma membrane to Golgi|IMP; GO:0019068|P:virion assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135679,'Experimental MF/BP Leaf Term GOA',NULL,3485,NULL,'GO:0046703|F:natural killer cell lectin-like receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(135680,'Experimental MF/BP Leaf Term GOA',NULL,3491,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:1990948|F:ubiquitin ligase inhibitor activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:2000435|P:negative regulation of protein neddylation|IDA; GO:1904667|P:negative regulation of ubiquitin protein ligase activity|IDA; GO:0050821|P:protein stabilization|IMP; GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135681,'Experimental MF/BP Leaf Term GOA',NULL,3493,NULL,'GO:0070885|P:negative regulation of calcineurin-NFAT signaling cascade|IMP',NULL,NULL,NULL,NULL,NULL),(135682,'Experimental MF/BP Leaf Term GOA',NULL,3495,NULL,'GO:0097602|F:cullin family protein binding|IDA; GO:0045116|P:protein neddylation|IDA',NULL,NULL,NULL,NULL,NULL),(135683,'Experimental MF/BP Leaf Term GOA',NULL,3499,NULL,'GO:0052650|F:NADP-retinol dehydrogenase activity|IDA; GO:0042574|P:retinal metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135684,'Experimental MF/BP Leaf Term GOA',NULL,3500,NULL,'GO:0036310|F:annealing helicase activity|IDA; GO:0005524|F:ATP binding|IDA; GO:0000405|F:bubble DNA binding|IDA; GO:0061821|F:telomeric D-loop binding|IDA; GO:0061820|P:telomeric D-loop disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(135685,'Experimental MF/BP Leaf Term GOA',NULL,3503,NULL,'GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(135686,'Experimental MF/BP Leaf Term GOA',NULL,3505,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0071277|P:cellular response to calcium ion|IMP; GO:0034260|P:negative regulation of GTPase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135687,'Experimental MF/BP Leaf Term GOA',NULL,3506,NULL,'GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(135688,'Experimental MF/BP Leaf Term GOA',NULL,3508,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0007420|P:brain development|IMP; GO:0097051|P:establishment of protein localization to endoplasmic reticulum membrane|IMP; GO:0060325|P:face morphogenesis|IMP; GO:0021854|P:hypothalamus development|IMP; GO:2000786|P:positive regulation of autophagosome assembly|IMP; GO:1903373|P:positive regulation of endoplasmic reticulum tubular network organization|IMP',NULL,NULL,NULL,NULL,NULL),(135689,'Experimental MF/BP Leaf Term GOA',NULL,3509,NULL,'GO:0070935|P:3\'-UTR-mediated mRNA stabilization|IDA; GO:0006977|P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|IDA; GO:0006978|P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IDA',NULL,NULL,NULL,NULL,NULL),(135690,'Experimental MF/BP Leaf Term GOA',NULL,3511,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(135691,'Experimental MF/BP Leaf Term GOA',NULL,3512,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:1900753|P:doxorubicin transport|IDA',NULL,NULL,NULL,NULL,NULL),(135692,'Experimental MF/BP Leaf Term GOA',NULL,3513,NULL,'GO:0035925|F:mRNA 3\'-UTR AU-rich region binding|IDA; GO:1990715|F:mRNA CDS binding|IDA; GO:1990825|F:sequence-specific mRNA binding|IDA; GO:0061158|P:3\'-UTR-mediated mRNA destabilization|IDA; GO:1905870|P:positive regulation of 3\'-UTR-mediated mRNA stabilization|IMP; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IMP',NULL,NULL,NULL,NULL,NULL),(135693,'Experimental MF/BP Leaf Term GOA',NULL,3514,NULL,'GO:0035925|F:mRNA 3\'-UTR AU-rich region binding|IDA; GO:0008143|F:poly(A) binding|IDA; GO:0008266|F:poly(U) RNA binding|IDA; GO:0002357|P:defense response to tumor cell|IMP',NULL,NULL,NULL,NULL,NULL),(135694,'Experimental MF/BP Leaf Term GOA',NULL,3519,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(135695,'Experimental MF/BP Leaf Term GOA',NULL,3520,NULL,'GO:0031013|F:troponin I binding|IPI',NULL,NULL,NULL,NULL,NULL),(135696,'Experimental MF/BP Leaf Term GOA',NULL,3522,NULL,'GO:0008584|P:male gonad development|IMP',NULL,NULL,NULL,NULL,NULL),(135697,'Experimental MF/BP Leaf Term GOA',NULL,3524,NULL,'GO:0097718|F:disordered domain specific binding|IPI; GO:0061676|F:importin-alpha family protein binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135698,'Experimental MF/BP Leaf Term GOA',NULL,3526,NULL,'GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(135699,'Experimental MF/BP Leaf Term GOA',NULL,3527,NULL,'GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0031648|P:protein destabilization|IMP',NULL,NULL,NULL,NULL,NULL),(135700,'Experimental MF/BP Leaf Term GOA',NULL,3530,NULL,'GO:1901877|P:negative regulation of calcium ion binding|IDA; GO:1901895|P:negative regulation of calcium-transporting ATPase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135701,'Experimental MF/BP Leaf Term GOA',NULL,3531,NULL,'GO:0071360|P:cellular response to exogenous dsRNA|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IDA',NULL,NULL,NULL,NULL,NULL),(135702,'Experimental MF/BP Leaf Term GOA',NULL,3533,NULL,'GO:0035970|P:peptidyl-threonine dephosphorylation|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135703,'Experimental MF/BP Leaf Term GOA',NULL,3537,NULL,'GO:0030332|F:cyclin binding|IPI',NULL,NULL,NULL,NULL,NULL),(135704,'Experimental MF/BP Leaf Term GOA',NULL,3538,NULL,'GO:0047499|F:calcium-independent phospholipase A2 activity|IMP; GO:0004602|F:glutathione peroxidase activity|IMP; GO:0042803|F:protein homodimerization activity|IMP; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135705,'Experimental MF/BP Leaf Term GOA',NULL,3541,NULL,'GO:2000271|P:positive regulation of fibroblast apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(135706,'Experimental MF/BP Leaf Term GOA',NULL,3549,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135707,'Experimental MF/BP Leaf Term GOA',NULL,3551,NULL,'GO:0005086|F:ARF guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135708,'Experimental MF/BP Leaf Term GOA',NULL,3552,NULL,'GO:0043295|F:glutathione binding|IDA; GO:0050220|F:prostaglandin-E synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135709,'Experimental MF/BP Leaf Term GOA',NULL,3554,NULL,'GO:0047522|F:15-oxoprostaglandin 13-oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135710,'Experimental MF/BP Leaf Term GOA',NULL,3555,NULL,'GO:0031857|F:type 1 parathyroid hormone receptor binding|IMP; GO:0007202|P:activation of phospholipase C activity|IMP; GO:0046326|P:positive regulation of glucose import|IDA; GO:0045725|P:positive regulation of glycogen biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135711,'Experimental MF/BP Leaf Term GOA',NULL,3559,NULL,'GO:0044791|P:positive regulation by host of viral release from host cell|IMP; GO:0019074|P:viral RNA genome packaging|IMP',NULL,NULL,NULL,NULL,NULL),(135712,'Experimental MF/BP Leaf Term GOA',NULL,3562,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0002181|P:cytoplasmic translation|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(135713,'Experimental MF/BP Leaf Term GOA',NULL,3564,NULL,'GO:0016603|F:glutaminyl-peptide cyclotransferase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0017186|P:peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|IDA',NULL,NULL,NULL,NULL,NULL),(135714,'Experimental MF/BP Leaf Term GOA',NULL,3567,NULL,'GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0044128|P:positive regulation of growth of symbiont in host|IMP',NULL,NULL,NULL,NULL,NULL),(135715,'Experimental MF/BP Leaf Term GOA',NULL,3570,NULL,'GO:1905408|P:negative regulation of creatine transmembrane transporter activity|IDA; GO:0023016|P:signal transduction by trans-phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(135716,'Experimental MF/BP Leaf Term GOA',NULL,3571,NULL,'GO:0001649|P:osteoblast differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(135717,'Experimental MF/BP Leaf Term GOA',NULL,3576,NULL,'GO:0075522|P:IRES-dependent viral translational initiation|IMP; GO:0070886|P:positive regulation of calcineurin-NFAT signaling cascade|IMP; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(135718,'Experimental MF/BP Leaf Term GOA',NULL,3577,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0030332|F:cyclin binding|IPI; GO:0097108|F:hedgehog family protein binding|IPI; GO:0005119|F:smoothened binding|IPI; GO:0071397|P:cellular response to cholesterol|IMP; GO:0021532|P:neural tube patterning|IMP; GO:0060037|P:pharyngeal system development|IMP; GO:0010875|P:positive regulation of cholesterol efflux|IDA; GO:0072001|P:renal system development|IEP; GO:0061053|P:somite development|IMP',NULL,NULL,NULL,NULL,NULL),(135719,'Experimental MF/BP Leaf Term GOA',NULL,3578,NULL,'GO:1990380|F:Lys48-specific deubiquitinase activity|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1904265|F:ubiquitin-specific protease activity involved in negative regulation of retrograde protein transport, ER to cytosol|IMP; GO:0035871|P:protein K11-linked deubiquitination|IDA; GO:1990167|P:protein K27-linked deubiquitination|IDA; GO:0035523|P:protein K29-linked deubiquitination|IDA; GO:1990168|P:protein K33-linked deubiquitination|IDA; GO:0071108|P:protein K48-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(135720,'Experimental MF/BP Leaf Term GOA',NULL,3579,NULL,'GO:0016499|F:orexin receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135721,'Experimental MF/BP Leaf Term GOA',NULL,3580,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0035871|P:protein K11-linked deubiquitination|IDA; GO:0071108|P:protein K48-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(135722,'Experimental MF/BP Leaf Term GOA',NULL,3582,NULL,'GO:1904465|P:negative regulation of matrix metallopeptidase secretion|IDA; GO:0150072|P:positive regulation of arginase activity|IGI; GO:0032793|P:positive regulation of CREB transcription factor activity|IDA; GO:0150074|P:positive regulation of protein-glutamine gamma-glutamyltransferase activity|IGI',NULL,NULL,NULL,NULL,NULL),(135723,'Experimental MF/BP Leaf Term GOA',NULL,3584,NULL,'GO:0043024|F:ribosomal small subunit binding|IDA; GO:0032543|P:mitochondrial translation|IMP',NULL,NULL,NULL,NULL,NULL),(135724,'Experimental MF/BP Leaf Term GOA',NULL,3585,NULL,'GO:1990380|F:Lys48-specific deubiquitinase activity|IDA; GO:0061578|F:Lys63-specific deubiquitinase activity|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0071108|P:protein K48-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(135725,'Experimental MF/BP Leaf Term GOA',NULL,3588,NULL,'GO:0008445|F:D-aspartate oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135726,'Experimental MF/BP Leaf Term GOA',NULL,3589,NULL,'GO:0047498|F:calcium-dependent phospholipase A2 activity|EXP; GO:0005544|F:calcium-dependent phospholipid binding|IDA',NULL,NULL,NULL,NULL,NULL),(135727,'Experimental MF/BP Leaf Term GOA',NULL,3590,NULL,'GO:0047498|F:calcium-dependent phospholipase A2 activity|IDA',NULL,NULL,NULL,NULL,NULL),(135728,'Experimental MF/BP Leaf Term GOA',NULL,3593,NULL,'GO:0016521|F:pituitary adenylate cyclase activating polypeptide activity|IDA; GO:0071651|P:positive regulation of chemokine (C-C motif) ligand 5 production|IDA',NULL,NULL,NULL,NULL,NULL),(135729,'Experimental MF/BP Leaf Term GOA',NULL,3594,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0048487|F:beta-tubulin binding|IDA; GO:0051087|F:chaperone binding|IPI; GO:0030544|F:Hsp70 protein binding|IDA; GO:0051879|F:Hsp90 protein binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135730,'Experimental MF/BP Leaf Term GOA',NULL,3595,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(135731,'Experimental MF/BP Leaf Term GOA',NULL,3597,NULL,'GO:0008143|F:poly(A) binding|IDA; GO:0008266|F:poly(U) RNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(135732,'Experimental MF/BP Leaf Term GOA',NULL,3600,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0001300|P:chronological cell aging|IEP; GO:0050829|P:defense response to Gram-negative bacterium|IGI; GO:0097187|P:dentinogenesis|IDA; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IMP; GO:0051918|P:negative regulation of fibrinolysis|IDA; GO:0010757|P:negative regulation of plasminogen activation|IDA; GO:2000098|P:negative regulation of smooth muscle cell-matrix adhesion|IDA; GO:0061044|P:negative regulation of vascular wound healing|IGI; GO:0035491|P:positive regulation of leukotriene production involved in inflammatory response|IMP; GO:0090026|P:positive regulation of monocyte chemotaxis|IMP; GO:1901331|P:positive regulation of odontoblast differentiation|IDA; GO:0090399|P:replicative senescence|IMP',NULL,NULL,NULL,NULL,NULL),(135733,'Experimental MF/BP Leaf Term GOA',NULL,3607,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0002134|F:UTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(135734,'Experimental MF/BP Leaf Term GOA',NULL,3612,NULL,'GO:0007098|P:centrosome cycle|IMP; GO:1904781|P:positive regulation of protein localization to centrosome|IMP',NULL,NULL,NULL,NULL,NULL),(135735,'Experimental MF/BP Leaf Term GOA',NULL,3614,NULL,'GO:0043522|F:leucine zipper domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(135736,'Experimental MF/BP Leaf Term GOA',NULL,3623,NULL,'GO:0035198|F:miRNA binding|IDA; GO:1900246|P:positive regulation of RIG-I signaling pathway|IDA; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IMP',NULL,NULL,NULL,NULL,NULL),(135737,'Experimental MF/BP Leaf Term GOA',NULL,3625,NULL,'GO:0035198|F:miRNA binding|IDA; GO:1900246|P:positive regulation of RIG-I signaling pathway|IDA; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IMP',NULL,NULL,NULL,NULL,NULL),(135738,'Experimental MF/BP Leaf Term GOA',NULL,3629,NULL,'GO:0004019|F:adenylosuccinate synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135739,'Experimental MF/BP Leaf Term GOA',NULL,3631,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(135740,'Experimental MF/BP Leaf Term GOA',NULL,3636,NULL,'GO:0000045|P:autophagosome assembly|IMP; GO:0090110|P:cargo loading into COPII-coated vesicle|IMP; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0030252|P:growth hormone secretion|IMP; GO:0072606|P:interleukin-8 secretion|IMP; GO:0019068|P:virion assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135741,'Experimental MF/BP Leaf Term GOA',NULL,3637,NULL,'GO:0005525|F:GTP binding|IDA; GO:0031489|F:myosin V binding|IPI; GO:0034498|P:early endosome to Golgi transport|IMP',NULL,NULL,NULL,NULL,NULL),(135742,'Experimental MF/BP Leaf Term GOA',NULL,3638,NULL,'GO:0007253|P:cytoplasmic sequestering of NF-kappaB|IDA; GO:0090201|P:negative regulation of release of cytochrome c from mitochondria|IMP; GO:0070682|P:proteasome regulatory particle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135743,'Experimental MF/BP Leaf Term GOA',NULL,3643,NULL,'GO:0002548|P:monocyte chemotaxis|IMP',NULL,NULL,NULL,NULL,NULL),(135744,'Experimental MF/BP Leaf Term GOA',NULL,3644,NULL,'GO:0001701|P:in utero embryonic development|IEP; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP',NULL,NULL,NULL,NULL,NULL),(135745,'Experimental MF/BP Leaf Term GOA',NULL,3648,NULL,'GO:0004019|F:adenylosuccinate synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135746,'Experimental MF/BP Leaf Term GOA',NULL,3649,NULL,'GO:1901838|P:positive regulation of transcription of nucleolar large rRNA by RNA polymerase I|IDA',NULL,NULL,NULL,NULL,NULL),(135747,'Experimental MF/BP Leaf Term GOA',NULL,3651,NULL,'GO:0002860|P:positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|IMP; GO:0042271|P:susceptibility to natural killer cell mediated cytotoxicity|IMP; GO:0060370|P:susceptibility to T cell mediated cytotoxicity|IDA',NULL,NULL,NULL,NULL,NULL),(135748,'Experimental MF/BP Leaf Term GOA',NULL,3652,NULL,'GO:0050650|P:chondroitin sulfate proteoglycan biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(135749,'Experimental MF/BP Leaf Term GOA',NULL,3654,NULL,'GO:0016208|F:AMP binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0008184|F:glycogen phosphorylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135750,'Experimental MF/BP Leaf Term GOA',NULL,3661,NULL,'GO:0004535|F:poly(A)-specific ribonuclease activity|IDA',NULL,NULL,NULL,NULL,NULL),(135751,'Experimental MF/BP Leaf Term GOA',NULL,3666,NULL,'GO:0033192|F:calmodulin-dependent protein phosphatase activity|IDA; GO:0070412|F:R-SMAD binding|IPI; GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IMP; GO:0010991|P:negative regulation of SMAD protein complex assembly|IDA; GO:0035970|P:peptidyl-threonine dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135752,'Experimental MF/BP Leaf Term GOA',NULL,3667,NULL,'GO:0004677|F:DNA-dependent protein kinase activity|IDA; GO:0032869|P:cellular response to insulin stimulus|IMP; GO:0016233|P:telomere capping|IMP',NULL,NULL,NULL,NULL,NULL),(135753,'Experimental MF/BP Leaf Term GOA',NULL,3669,NULL,'GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135754,'Experimental MF/BP Leaf Term GOA',NULL,3670,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135755,'Experimental MF/BP Leaf Term GOA',NULL,3671,NULL,'GO:0031532|P:actin cytoskeleton reorganization|IMP; GO:0071300|P:cellular response to retinoic acid|IMP',NULL,NULL,NULL,NULL,NULL),(135756,'Experimental MF/BP Leaf Term GOA',NULL,3673,NULL,'GO:0005524|F:ATP binding|IDA; GO:0043141|F:ATP-dependent 5\'-3\' DNA helicase activity|IDA; GO:0033682|F:ATP-dependent 5\'-3\' DNA/RNA helicase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(135757,'Experimental MF/BP Leaf Term GOA',NULL,3674,NULL,'GO:0005136|F:interleukin-4 receptor binding|IDA; GO:0042976|P:activation of Janus kinase activity|IDA; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:0090307|P:mitotic spindle assembly|IMP; GO:0031393|P:negative regulation of prostaglandin biosynthetic process|IDA; GO:0042532|P:negative regulation of tyrosine phosphorylation of STAT protein|IDA; GO:1905515|P:non-motile cilium assembly|IMP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(135758,'Experimental MF/BP Leaf Term GOA',NULL,3678,NULL,'GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(135759,'Experimental MF/BP Leaf Term GOA',NULL,3685,NULL,'GO:0005168|F:neurotrophin TRKA receptor binding|IPI; GO:0004435|F:phosphatidylinositol phospholipase C activity|IDA; GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA; GO:2000353|P:positive regulation of endothelial cell apoptotic process|IMP; GO:1905564|P:positive regulation of vascular endothelial cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(135760,'Experimental MF/BP Leaf Term GOA',NULL,3691,NULL,'GO:0080122|F:AMP transmembrane transporter activity|IDA; GO:0051087|F:chaperone binding|IPI; GO:0015228|F:coenzyme A transmembrane transporter activity|IDA; GO:0015230|F:FAD transmembrane transporter activity|IDA; GO:0044610|F:FMN transmembrane transporter activity|IDA; GO:0051724|F:NAD transmembrane transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(135761,'Experimental MF/BP Leaf Term GOA',NULL,3697,NULL,'GO:0004063|F:aryldialkylphosphatase activity|IDA; GO:0004064|F:arylesterase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0010875|P:positive regulation of cholesterol efflux|IDA',NULL,NULL,NULL,NULL,NULL),(135762,'Experimental MF/BP Leaf Term GOA',NULL,3700,NULL,'GO:0045294|F:alpha-catenin binding|IPI; GO:0086073|P:bundle of His cell-Purkinje myocyte adhesion involved in cell communication|IMP; GO:0071681|P:cellular response to indole-3-methanol|IDA; GO:0002159|P:desmosome assembly|IDA; GO:0042307|P:positive regulation of protein import into nucleus|IDA; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(135763,'Experimental MF/BP Leaf Term GOA',NULL,3705,NULL,'GO:0030506|F:ankyrin binding|IPI; GO:0008307|F:structural constituent of muscle|IMP; GO:0031581|P:hemidesmosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135764,'Experimental MF/BP Leaf Term GOA',NULL,3706,NULL,'GO:0004435|F:phosphatidylinositol phospholipase C activity|IDA; GO:0032266|F:phosphatidylinositol-3-phosphate binding|IMP; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0010314|F:phosphatidylinositol-5-phosphate binding|IMP; GO:0007343|P:egg activation|IMP',NULL,NULL,NULL,NULL,NULL),(135765,'Experimental MF/BP Leaf Term GOA',NULL,3709,NULL,'GO:0044329|P:canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion|IMP; GO:0044328|P:canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration|IMP; GO:0044330|P:canonical Wnt signaling pathway involved in positive regulation of wound healing|IMP; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(135766,'Experimental MF/BP Leaf Term GOA',NULL,3710,NULL,'GO:0008195|F:phosphatidate phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135767,'Experimental MF/BP Leaf Term GOA',NULL,3715,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(135768,'Experimental MF/BP Leaf Term GOA',NULL,3719,NULL,'GO:0071949|F:FAD binding|IDA; GO:0004657|F:proline dehydrogenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135769,'Experimental MF/BP Leaf Term GOA',NULL,3720,NULL,'GO:0004252|F:serine-type endopeptidase activity|IMP; GO:1903142|P:positive regulation of establishment of endothelial barrier|IMP',NULL,NULL,NULL,NULL,NULL),(135770,'Experimental MF/BP Leaf Term GOA',NULL,3732,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0038203|P:TORC2 signaling|IDA',NULL,NULL,NULL,NULL,NULL),(135771,'Experimental MF/BP Leaf Term GOA',NULL,3748,NULL,'GO:0071300|P:cellular response to retinoic acid|IMP; GO:0007260|P:tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(135772,'Experimental MF/BP Leaf Term GOA',NULL,3749,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0051045|P:negative regulation of membrane protein ectodomain proteolysis|IMP',NULL,NULL,NULL,NULL,NULL),(135773,'Experimental MF/BP Leaf Term GOA',NULL,3753,NULL,'GO:0099560|P:synaptic membrane adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(135774,'Experimental MF/BP Leaf Term GOA',NULL,3755,NULL,'GO:0030507|F:spectrin binding|IPI; GO:1990502|P:dense core granule maturation|IGI; GO:1904692|P:positive regulation of type B pancreatic cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(135775,'Experimental MF/BP Leaf Term GOA',NULL,3756,NULL,'GO:0002039|F:p53 binding|IPI',NULL,NULL,NULL,NULL,NULL),(135776,'Experimental MF/BP Leaf Term GOA',NULL,3758,NULL,'GO:0034164|P:negative regulation of toll-like receptor 9 signaling pathway|IMP; GO:0099560|P:synaptic membrane adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(135777,'Experimental MF/BP Leaf Term GOA',NULL,3763,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0035198|F:miRNA binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0003130|P:BMP signaling pathway involved in heart induction|IMP; GO:0001714|P:endodermal cell fate specification|IDA; GO:0060391|P:positive regulation of SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(135778,'Experimental MF/BP Leaf Term GOA',NULL,3765,NULL,'GO:0016018|F:cyclosporin A binding|IDA; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135779,'Experimental MF/BP Leaf Term GOA',NULL,3766,NULL,'GO:0002039|F:p53 binding|IDA',NULL,NULL,NULL,NULL,NULL),(135780,'Experimental MF/BP Leaf Term GOA',NULL,3767,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA; GO:0000244|P:spliceosomal tri-snRNP complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135781,'Experimental MF/BP Leaf Term GOA',NULL,3773,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0070528|P:protein kinase C signaling|IDA',NULL,NULL,NULL,NULL,NULL),(135782,'Experimental MF/BP Leaf Term GOA',NULL,3782,NULL,'GO:1990948|F:ubiquitin ligase inhibitor activity|IMP; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0002181|P:cytoplasmic translation|IDA; GO:2000435|P:negative regulation of protein neddylation|IDA; GO:1904667|P:negative regulation of ubiquitin protein ligase activity|IMP; GO:0050821|P:protein stabilization|IMP; GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135783,'Experimental MF/BP Leaf Term GOA',NULL,3797,NULL,'GO:0008474|F:palmitoyl-(protein) hydrolase activity|IDA; GO:0016290|F:palmitoyl-CoA hydrolase activity|IDA; GO:0007420|P:brain development|IMP; GO:0007042|P:lysosomal lumen acidification|IMP; GO:0007399|P:nervous system development|IMP; GO:0002084|P:protein depalmitoylation|IDA',NULL,NULL,NULL,NULL,NULL),(135784,'Experimental MF/BP Leaf Term GOA',NULL,3800,NULL,'GO:0071456|P:cellular response to hypoxia|IDA',NULL,NULL,NULL,NULL,NULL),(135785,'Experimental MF/BP Leaf Term GOA',NULL,3805,NULL,'GO:0035970|P:peptidyl-threonine dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135786,'Experimental MF/BP Leaf Term GOA',NULL,3812,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0097029|P:mature conventional dendritic cell differentiation|IDA; GO:0072672|P:neutrophil extravasation|IMP',NULL,NULL,NULL,NULL,NULL),(135787,'Experimental MF/BP Leaf Term GOA',NULL,3814,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135788,'Experimental MF/BP Leaf Term GOA',NULL,3815,NULL,'GO:0051059|F:NF-kappaB binding|IPI',NULL,NULL,NULL,NULL,NULL),(135789,'Experimental MF/BP Leaf Term GOA',NULL,3818,NULL,'GO:0070682|P:proteasome regulatory particle assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135790,'Experimental MF/BP Leaf Term GOA',NULL,3821,NULL,'GO:0004642|F:phosphoribosylformylglycinamidine synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135791,'Experimental MF/BP Leaf Term GOA',NULL,3825,NULL,'GO:0043531|F:ADP binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0051879|F:Hsp90 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(135792,'Experimental MF/BP Leaf Term GOA',NULL,3826,NULL,'GO:0004691|F:cAMP-dependent protein kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135793,'Experimental MF/BP Leaf Term GOA',NULL,3827,NULL,'GO:0050692|F:DBD domain binding|IPI; GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0050693|F:LBD domain binding|IPI; GO:0007420|P:brain development|IEP; GO:0060059|P:embryonic retina morphogenesis in camera-type eye|IEP; GO:0070365|P:hepatocyte differentiation|IEP; GO:0002088|P:lens development in camera-type eye|IEP; GO:0070309|P:lens fiber cell morphogenesis|IEP; GO:0001946|P:lymphangiogenesis|IDA; GO:0060836|P:lymphatic endothelial cell differentiation|IDA; GO:0070858|P:negative regulation of bile acid biosynthetic process|IMP; GO:0031016|P:pancreas development|IEP; GO:0060849|P:regulation of transcription involved in lymphatic endothelial cell fate commitment|IMP',NULL,NULL,NULL,NULL,NULL),(135794,'Experimental MF/BP Leaf Term GOA',NULL,3829,NULL,'GO:0034450|F:ubiquitin-ubiquitin ligase activity|IDA; GO:0000244|P:spliceosomal tri-snRNP complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135795,'Experimental MF/BP Leaf Term GOA',NULL,3830,NULL,'GO:0050681|F:androgen receptor binding|IPI; GO:0000244|P:spliceosomal tri-snRNP complex assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135796,'Experimental MF/BP Leaf Term GOA',NULL,3838,NULL,'GO:0071346|P:cellular response to interferon-gamma|IDA; GO:1901194|P:negative regulation of formation of translation preinitiation complex|IDA',NULL,NULL,NULL,NULL,NULL),(135797,'Experimental MF/BP Leaf Term GOA',NULL,3839,NULL,'GO:0000979|F:RNA polymerase II core promoter sequence-specific DNA binding|IMP; GO:0000983|F:transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding|IMP',NULL,NULL,NULL,NULL,NULL),(135798,'Experimental MF/BP Leaf Term GOA',NULL,3841,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0043922|P:negative regulation by host of viral transcription|IDA',NULL,NULL,NULL,NULL,NULL),(135799,'Experimental MF/BP Leaf Term GOA',NULL,3850,NULL,'GO:0010917|P:negative regulation of mitochondrial membrane potential|IMP',NULL,NULL,NULL,NULL,NULL),(135800,'Experimental MF/BP Leaf Term GOA',NULL,3853,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(135801,'Experimental MF/BP Leaf Term GOA',NULL,3857,NULL,'GO:1990226|F:histone methyltransferase binding|IDA; GO:0050965|P:detection of temperature stimulus involved in sensory perception of pain|IMP; GO:1900111|P:positive regulation of histone H3-K9 dimethylation|IMP',NULL,NULL,NULL,NULL,NULL),(135802,'Experimental MF/BP Leaf Term GOA',NULL,3858,NULL,'GO:0008157|F:protein phosphatase 1 binding|IDA; GO:1903917|P:positive regulation of endoplasmic reticulum stress-induced eIF2 alpha dephosphorylation|IDA; GO:1902310|P:positive regulation of peptidyl-serine dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135803,'Experimental MF/BP Leaf Term GOA',NULL,3862,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0051087|F:chaperone binding|IPI; GO:0097602|F:cullin family protein binding|IDA; GO:1990444|F:F-box domain binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:0030544|F:Hsp70 protein binding|IPI; GO:0030165|F:PDZ domain binding|IPI; GO:0043274|F:phospholipase binding|IPI; GO:0031624|F:ubiquitin conjugating enzyme binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0070842|P:aggresome assembly|IMP; GO:0010994|P:free ubiquitin chain polymerization|IMP; GO:0099074|P:mitochondrion to lysosome transport|IDA; GO:0044828|P:negative regulation by host of viral genome replication|IDA; GO:1903542|P:negative regulation of exosomal secretion|IMP; GO:0033132|P:negative regulation of glucokinase activity|IDA; GO:1905366|P:negative regulation of intralumenal vesicle formation|IMP; GO:1902283|P:negative regulation of primary amine oxidase activity|IMP; GO:0090201|P:negative regulation of release of cytochrome c from mitochondria|IDA; GO:1904049|P:negative regulation of spontaneous neurotransmitter secretion|IMP; GO:0061734|P:parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization|IDA; GO:0010636|P:positive regulation of mitochondrial fusion|IMP; GO:1902530|P:positive regulation of protein linear polyubiquitination|IGI; GO:1903265|P:positive regulation of tumor necrosis factor-mediated signaling pathway|IDA; GO:0051865|P:protein autoubiquitination|IDA; GO:0031648|P:protein destabilization|IDA; GO:0070979|P:protein K11-linked ubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA; GO:0085020|P:protein K6-linked ubiquitination|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(135804,'Experimental MF/BP Leaf Term GOA',NULL,3863,NULL,'GO:0017124|F:SH3 domain binding|IPI; GO:0071364|P:cellular response to epidermal growth factor stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(135805,'Experimental MF/BP Leaf Term GOA',NULL,3864,NULL,'GO:0036312|F:phosphatidylinositol 3-kinase regulatory subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(135806,'Experimental MF/BP Leaf Term GOA',NULL,3865,NULL,'GO:0001946|P:lymphangiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135807,'Experimental MF/BP Leaf Term GOA',NULL,3867,NULL,'GO:0046875|F:ephrin receptor binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0031532|P:actin cytoskeleton reorganization|IMP; GO:1903898|P:negative regulation of PERK-mediated unfolded protein response|IDA',NULL,NULL,NULL,NULL,NULL),(135808,'Experimental MF/BP Leaf Term GOA',NULL,3870,NULL,'GO:0045022|P:early endosome to late endosome transport|IMP; GO:2000643|P:positive regulation of early endosome to late endosome transport|IMP; GO:1903387|P:positive regulation of homophilic cell adhesion|IMP; GO:0061357|P:positive regulation of Wnt protein secretion|IMP; GO:0043162|P:ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135809,'Experimental MF/BP Leaf Term GOA',NULL,3872,NULL,'GO:0035374|F:chondroitin sulfate binding|IDA; GO:0008083|F:growth factor activity|IDA; GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(135810,'Experimental MF/BP Leaf Term GOA',NULL,3873,NULL,'GO:0001784|F:phosphotyrosine residue binding|IDA',NULL,NULL,NULL,NULL,NULL),(135811,'Experimental MF/BP Leaf Term GOA',NULL,3874,NULL,'GO:0001784|F:phosphotyrosine residue binding|IMP; GO:0005001|F:transmembrane receptor protein tyrosine phosphatase activity|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135812,'Experimental MF/BP Leaf Term GOA',NULL,3876,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0070097|F:delta-catenin binding|IPI; GO:0045295|F:gamma-catenin binding|IPI; GO:0005161|F:platelet-derived growth factor receptor binding|IPI; GO:0051898|P:negative regulation of protein kinase B signaling|IMP; GO:0043116|P:negative regulation of vascular permeability|IDA; GO:0051894|P:positive regulation of focal adhesion assembly|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135813,'Experimental MF/BP Leaf Term GOA',NULL,3877,NULL,'GO:0005001|F:transmembrane receptor protein tyrosine phosphatase activity|IDA; GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IDA; GO:0010842|P:retina layer formation|IMP; GO:0031290|P:retinal ganglion cell axon guidance|IDA',NULL,NULL,NULL,NULL,NULL),(135814,'Experimental MF/BP Leaf Term GOA',NULL,3879,NULL,'GO:0061133|F:endopeptidase activator activity|IMP; GO:0070628|F:proteasome binding|IDA',NULL,NULL,NULL,NULL,NULL),(135815,'Experimental MF/BP Leaf Term GOA',NULL,3880,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071225|P:cellular response to muramyl dipeptide|IDA; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IMP; GO:1900165|P:negative regulation of interleukin-6 secretion|IMP; GO:2000483|P:negative regulation of interleukin-8 secretion|IMP; GO:0043508|P:negative regulation of JUN kinase activity|IMP; GO:0070433|P:negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway|IMP; GO:1903753|P:negative regulation of p38MAPK cascade|IMP; GO:1902715|P:positive regulation of interferon-gamma secretion|IMP; GO:0034141|P:positive regulation of toll-like receptor 3 signaling pathway|IMP; GO:0034145|P:positive regulation of toll-like receptor 4 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135816,'Experimental MF/BP Leaf Term GOA',NULL,3883,NULL,'GO:0030506|F:ankyrin binding|IPI; GO:0030507|F:spectrin binding|IDA; GO:0048539|P:bone marrow development|IMP; GO:0006933|P:negative regulation of cell adhesion involved in substrate-bound cell migration|IMP; GO:0030890|P:positive regulation of B cell proliferation|IMP; GO:2000473|P:positive regulation of hematopoietic stem cell migration|IMP; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135817,'Experimental MF/BP Leaf Term GOA',NULL,3887,NULL,'GO:0045294|F:alpha-catenin binding|IDA; GO:0008013|F:beta-catenin binding|IPI; GO:0070097|F:delta-catenin binding|IPI; GO:0045295|F:gamma-catenin binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0097677|F:STAT family protein binding|IPI; GO:0005001|F:transmembrane receptor protein tyrosine phosphatase activity|IDA; GO:0071354|P:cellular response to interleukin-6|IDA; GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IDA; GO:1990264|P:peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135818,'Experimental MF/BP Leaf Term GOA',NULL,3888,NULL,'GO:0001849|F:complement component C1q binding|IDA; GO:0046790|F:virion binding|IDA; GO:0044869|P:negative regulation by host of viral exo-alpha-sialidase activity|IDA; GO:0044871|P:negative regulation by host of viral glycoprotein metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(135819,'Experimental MF/BP Leaf Term GOA',NULL,3899,NULL,'GO:0035970|P:peptidyl-threonine dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135820,'Experimental MF/BP Leaf Term GOA',NULL,3900,NULL,'GO:0050254|F:rhodopsin kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135821,'Experimental MF/BP Leaf Term GOA',NULL,3902,NULL,'GO:0003785|F:actin monomer binding|IDA; GO:0000774|F:adenyl-nucleotide exchange factor activity|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0051497|P:negative regulation of stress fiber assembly|IMP; GO:1900029|P:positive regulation of ruffle assembly|IMP; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(135822,'Experimental MF/BP Leaf Term GOA',NULL,3903,NULL,'GO:0003785|F:actin monomer binding|IPI; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:1900028|P:negative regulation of ruffle assembly|IMP; GO:0051496|P:positive regulation of stress fiber assembly|IMP; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(135823,'Experimental MF/BP Leaf Term GOA',NULL,3911,NULL,'GO:0000244|P:spliceosomal tri-snRNP complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135824,'Experimental MF/BP Leaf Term GOA',NULL,3922,NULL,'GO:0031531|F:thyrotropin-releasing hormone receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(135825,'Experimental MF/BP Leaf Term GOA',NULL,3930,NULL,'GO:0004729|F:oxygen-dependent protoporphyrinogen oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135826,'Experimental MF/BP Leaf Term GOA',NULL,3933,NULL,'GO:2001069|F:glycogen binding|IDA',NULL,NULL,NULL,NULL,NULL),(135827,'Experimental MF/BP Leaf Term GOA',NULL,3936,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IMP; GO:0072541|F:peroxynitrite reductase activity|IDA; GO:0008379|F:thioredoxin peroxidase activity|EXP; GO:0070995|P:NADPH oxidation|IDA; GO:0032967|P:positive regulation of collagen biosynthetic process|IDA; GO:0060785|P:regulation of apoptosis involved in tissue homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(135828,'Experimental MF/BP Leaf Term GOA',NULL,3937,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(135829,'Experimental MF/BP Leaf Term GOA',NULL,3939,NULL,'GO:0008379|F:thioredoxin peroxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135830,'Experimental MF/BP Leaf Term GOA',NULL,3941,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IMP; GO:0008022|F:protein C-terminus binding|IPI; GO:0008379|F:thioredoxin peroxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135831,'Experimental MF/BP Leaf Term GOA',NULL,3942,NULL,'GO:2000691|P:negative regulation of cardiac muscle cell myoblast differentiation|IDA; GO:0001843|P:neural tube closure|IMP',NULL,NULL,NULL,NULL,NULL),(135832,'Experimental MF/BP Leaf Term GOA',NULL,3944,NULL,'GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(135833,'Experimental MF/BP Leaf Term GOA',NULL,3945,NULL,'GO:0001540|F:amyloid-beta binding|IDA; GO:1903136|F:cuprous ion binding|IMP; GO:0031802|F:type 5 metabotropic glutamate receptor binding|IPI; GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IGI; GO:1904646|P:cellular response to amyloid-beta|IGI; GO:0071280|P:cellular response to copper ion|IDA; GO:0031648|P:protein destabilization|IMP',NULL,NULL,NULL,NULL,NULL),(135834,'Experimental MF/BP Leaf Term GOA',NULL,3946,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(135835,'Experimental MF/BP Leaf Term GOA',NULL,3948,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0031054|P:pre-miRNA processing|IDA; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(135836,'Experimental MF/BP Leaf Term GOA',NULL,3950,NULL,'GO:0007283|P:spermatogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135837,'Experimental MF/BP Leaf Term GOA',NULL,3952,NULL,'GO:0045494|P:photoreceptor cell maintenance|IMP; GO:2000768|P:positive regulation of nephron tubule epithelial cell differentiation|IMP; GO:0060042|P:retina morphogenesis in camera-type eye|IMP',NULL,NULL,NULL,NULL,NULL),(135838,'Experimental MF/BP Leaf Term GOA',NULL,3953,NULL,'GO:2001287|P:negative regulation of caveolin-mediated endocytosis|IDA',NULL,NULL,NULL,NULL,NULL),(135839,'Experimental MF/BP Leaf Term GOA',NULL,3956,NULL,'GO:0003735|F:structural constituent of ribosome|IDA; GO:1990403|P:embryonic brain development|IMP',NULL,NULL,NULL,NULL,NULL),(135840,'Experimental MF/BP Leaf Term GOA',NULL,3957,NULL,'GO:0030621|F:U4 snRNA binding|IDA; GO:0030622|F:U4atac snRNA binding|IDA; GO:0071166|P:ribonucleoprotein complex localization|IMP; GO:0000244|P:spliceosomal tri-snRNP complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135841,'Experimental MF/BP Leaf Term GOA',NULL,3961,NULL,'GO:0005524|F:ATP binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0004749|F:ribose phosphate diphosphokinase activity|IDA; GO:0007399|P:nervous system development|IMP; GO:0034418|P:urate biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(135842,'Experimental MF/BP Leaf Term GOA',NULL,3969,NULL,'GO:0050884|P:neuromuscular process controlling posture|IMP',NULL,NULL,NULL,NULL,NULL),(135843,'Experimental MF/BP Leaf Term GOA',NULL,3973,NULL,'GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(135844,'Experimental MF/BP Leaf Term GOA',NULL,3984,NULL,'GO:0042274|P:ribosomal small subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135845,'Experimental MF/BP Leaf Term GOA',NULL,3985,NULL,'GO:0071889|F:14-3-3 protein binding|IDA; GO:0001156|F:TFIIIC-class transcription factor complex binding|IDA; GO:0071233|P:cellular response to leucine|IDA; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IMP; GO:0045945|P:positive regulation of transcription by RNA polymerase III|IMP',NULL,NULL,NULL,NULL,NULL),(135846,'Experimental MF/BP Leaf Term GOA',NULL,3989,NULL,'GO:0007283|P:spermatogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(135847,'Experimental MF/BP Leaf Term GOA',NULL,3993,NULL,'GO:0032793|P:positive regulation of CREB transcription factor activity|IMP; GO:1903861|P:positive regulation of dendrite extension|IMP',NULL,NULL,NULL,NULL,NULL),(135848,'Experimental MF/BP Leaf Term GOA',NULL,3994,NULL,'GO:0070940|P:dephosphorylation of RNA polymerase II C-terminal domain|IMP',NULL,NULL,NULL,NULL,NULL),(135849,'Experimental MF/BP Leaf Term GOA',NULL,3996,NULL,'GO:0008312|F:7S RNA binding|IDA; GO:0030942|F:endoplasmic reticulum signal peptide binding|IDA; GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(135850,'Experimental MF/BP Leaf Term GOA',NULL,3997,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(135851,'Experimental MF/BP Leaf Term GOA',NULL,4002,NULL,'GO:0044547|F:DNA topoisomerase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135852,'Experimental MF/BP Leaf Term GOA',NULL,4006,NULL,'GO:0030544|F:Hsp70 protein binding|IDA; GO:0051879|F:Hsp90 protein binding|IDA; GO:0032358|F:oxidized pyrimidine DNA binding|IDA; GO:0070181|F:small ribosomal subunit rRNA binding|IDA; GO:0097100|F:supercoiled DNA binding|IDA; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IMP; GO:0042104|P:positive regulation of activated T cell proliferation|IMP; GO:1905053|P:positive regulation of base-excision repair|IDA; GO:0032079|P:positive regulation of endodeoxyribonuclease activity|IDA; GO:0050862|P:positive regulation of T cell receptor signaling pathway|IMP; GO:0061481|P:response to TNF agonist|IDA',NULL,NULL,NULL,NULL,NULL),(135853,'Experimental MF/BP Leaf Term GOA',NULL,4008,NULL,'GO:0003735|F:structural constituent of ribosome|IMP',NULL,NULL,NULL,NULL,NULL),(135854,'Experimental MF/BP Leaf Term GOA',NULL,4009,NULL,'GO:0046974|F:histone methyltransferase activity (H3-K9 specific)|IDA; GO:1904047|F:S-adenosyl-L-methionine binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0071456|P:cellular response to hypoxia|IDA',NULL,NULL,NULL,NULL,NULL),(135855,'Experimental MF/BP Leaf Term GOA',NULL,4014,NULL,'GO:1905573|F:ganglioside GM1 binding|IDA; GO:1905576|F:ganglioside GT1b binding|IDA; GO:0035025|P:positive regulation of Rho protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(135856,'Experimental MF/BP Leaf Term GOA',NULL,4015,NULL,'GO:0001649|P:osteoblast differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(135857,'Experimental MF/BP Leaf Term GOA',NULL,4016,NULL,'GO:0042633|P:hair cycle|IMP',NULL,NULL,NULL,NULL,NULL),(135858,'Experimental MF/BP Leaf Term GOA',NULL,4017,NULL,'GO:0015347|F:sodium-independent organic anion transmembrane transporter activity|IDA; GO:0015913|P:short-chain fatty acid import|IDA; GO:0043252|P:sodium-independent organic anion transport|IDA',NULL,NULL,NULL,NULL,NULL),(135859,'Experimental MF/BP Leaf Term GOA',NULL,4018,NULL,'GO:0030644|P:cellular chloride ion homeostasis|IDA; GO:0060996|P:dendritic spine development|IDA',NULL,NULL,NULL,NULL,NULL),(135860,'Experimental MF/BP Leaf Term GOA',NULL,4020,NULL,'GO:0019531|F:oxalate transmembrane transporter activity|IMP; GO:0015701|P:bicarbonate transport|IDA; GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0070528|P:protein kinase C signaling|IDA; GO:0030321|P:transepithelial chloride transport|IMP',NULL,NULL,NULL,NULL,NULL),(135861,'Experimental MF/BP Leaf Term GOA',NULL,4023,NULL,'GO:1990569|P:UDP-N-acetylglucosamine transmembrane transport|IMP',NULL,NULL,NULL,NULL,NULL),(135862,'Experimental MF/BP Leaf Term GOA',NULL,4027,NULL,'GO:0015180|F:L-alanine transmembrane transporter activity|IDA; GO:0015193|F:L-proline transmembrane transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(135863,'Experimental MF/BP Leaf Term GOA',NULL,4028,NULL,'GO:0043008|F:ATP-dependent protein binding|IDA; GO:0008022|F:protein C-terminus binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135864,'Experimental MF/BP Leaf Term GOA',NULL,4031,NULL,'GO:0003865|F:3-oxo-5-alpha-steroid 4-dehydrogenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135865,'Experimental MF/BP Leaf Term GOA',NULL,4032,NULL,'GO:0030621|F:U4 snRNA binding|IDA; GO:0030624|F:U6atac snRNA binding|IDA; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:1903586|P:positive regulation of histone deubiquitination|IDA; GO:0000244|P:spliceosomal tri-snRNP complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135866,'Experimental MF/BP Leaf Term GOA',NULL,4033,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(135867,'Experimental MF/BP Leaf Term GOA',NULL,4036,NULL,'GO:1902902|P:negative regulation of autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135868,'Experimental MF/BP Leaf Term GOA',NULL,4043,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0086016|P:AV node cell action potential|IMP; GO:0060048|P:cardiac muscle contraction|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(135869,'Experimental MF/BP Leaf Term GOA',NULL,4044,NULL,'GO:0070579|F:methylcytosine dioxygenase activity|IDA; GO:0090310|P:negative regulation of methylation-dependent chromatin silencing|IMP',NULL,NULL,NULL,NULL,NULL),(135870,'Experimental MF/BP Leaf Term GOA',NULL,4051,NULL,'GO:0034186|F:apolipoprotein A-I binding|IPI; GO:0070506|F:high-density lipoprotein particle receptor activity|IDA; GO:0001530|F:lipopolysaccharide binding|IDA; GO:0001875|F:lipopolysaccharide receptor activity|IDA; GO:0030169|F:low-density lipoprotein particle binding|IDA; GO:0033344|P:cholesterol efflux|IMP; GO:0070508|P:cholesterol import|IMP; GO:0032497|P:detection of lipopolysaccharide|IDA; GO:0034384|P:high-density lipoprotein particle clearance|IDA; GO:0010886|P:positive regulation of cholesterol storage|IDA; GO:0051000|P:positive regulation of nitric-oxide synthase activity|IDA; GO:0043654|P:recognition of apoptotic cell|IDA; GO:0043691|P:reverse cholesterol transport|IEP',NULL,NULL,NULL,NULL,NULL),(135871,'Experimental MF/BP Leaf Term GOA',NULL,4053,NULL,'GO:0003735|F:structural constituent of ribosome|IMP; GO:0032543|P:mitochondrial translation|IMP',NULL,NULL,NULL,NULL,NULL),(135872,'Experimental MF/BP Leaf Term GOA',NULL,4056,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(135873,'Experimental MF/BP Leaf Term GOA',NULL,4061,NULL,'GO:0071313|P:cellular response to caffeine|IMP',NULL,NULL,NULL,NULL,NULL),(135874,'Experimental MF/BP Leaf Term GOA',NULL,4063,NULL,'GO:0050786|F:RAGE receptor binding|IPI; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IMP; GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA; GO:0010820|P:positive regulation of T cell chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135875,'Experimental MF/BP Leaf Term GOA',NULL,4070,NULL,'GO:0015218|F:pyrimidine nucleotide transmembrane transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(135876,'Experimental MF/BP Leaf Term GOA',NULL,4075,NULL,'GO:0005452|F:inorganic anion exchanger activity|IDA; GO:0015347|F:sodium-independent organic anion transmembrane transporter activity|IDA; GO:0097254|P:renal tubular secretion|IMP; GO:0043252|P:sodium-independent organic anion transport|IDA',NULL,NULL,NULL,NULL,NULL),(135877,'Experimental MF/BP Leaf Term GOA',NULL,4076,NULL,'GO:0050786|F:RAGE receptor binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(135878,'Experimental MF/BP Leaf Term GOA',NULL,4079,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0044548|F:S100 protein binding|IPI; GO:0051000|P:positive regulation of nitric-oxide synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(135879,'Experimental MF/BP Leaf Term GOA',NULL,4083,NULL,'GO:0006882|P:cellular zinc ion homeostasis|IDA; GO:0071578|P:zinc ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(135880,'Experimental MF/BP Leaf Term GOA',NULL,4089,NULL,'GO:0005524|F:ATP binding|IMP; GO:0000287|F:magnesium ion binding|IMP; GO:0046982|F:protein heterodimerization activity|IMP; GO:0019948|F:SUMO activating enzyme activity|IDA',NULL,NULL,NULL,NULL,NULL),(135881,'Experimental MF/BP Leaf Term GOA',NULL,4090,NULL,'GO:0032217|F:riboflavin transmembrane transporter activity|IDA; GO:0032218|P:riboflavin transport|IDA; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(135882,'Experimental MF/BP Leaf Term GOA',NULL,4092,NULL,'GO:0031435|F:mitogen-activated protein kinase kinase kinase binding|IDA; GO:0008022|F:protein C-terminus binding|IDA; GO:0031666|P:positive regulation of lipopolysaccharide-mediated signaling pathway|IMP; GO:1900745|P:positive regulation of p38MAPK cascade|IMP',NULL,NULL,NULL,NULL,NULL),(135883,'Experimental MF/BP Leaf Term GOA',NULL,4098,NULL,'GO:1902902|P:negative regulation of autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135884,'Experimental MF/BP Leaf Term GOA',NULL,4100,NULL,'GO:0048245|P:eosinophil chemotaxis|IDA; GO:0050930|P:induction of positive chemotaxis|IDA; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(135885,'Experimental MF/BP Leaf Term GOA',NULL,4101,NULL,'GO:0048408|F:epidermal growth factor binding|IPI; GO:0000060|P:protein import into nucleus, translocation|IMP; GO:0030970|P:retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(135886,'Experimental MF/BP Leaf Term GOA',NULL,4105,NULL,'GO:0071277|P:cellular response to calcium ion|IMP',NULL,NULL,NULL,NULL,NULL),(135887,'Experimental MF/BP Leaf Term GOA',NULL,4107,NULL,'GO:0050699|F:WW domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(135888,'Experimental MF/BP Leaf Term GOA',NULL,4108,NULL,'GO:0008198|F:ferrous iron binding|IDA; GO:0070579|F:methylcytosine dioxygenase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0006211|P:5-methylcytosine catabolic process|IDA; GO:0080182|P:histone H3-K4 trimethylation|IMP',NULL,NULL,NULL,NULL,NULL),(135889,'Experimental MF/BP Leaf Term GOA',NULL,4109,NULL,'GO:0050699|F:WW domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(135890,'Experimental MF/BP Leaf Term GOA',NULL,4111,NULL,'GO:0042169|F:SH2 domain binding|IPI; GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(135891,'Experimental MF/BP Leaf Term GOA',NULL,4112,NULL,'GO:0007283|P:spermatogenesis|IGI',NULL,NULL,NULL,NULL,NULL),(135892,'Experimental MF/BP Leaf Term GOA',NULL,4116,NULL,'GO:0030165|F:PDZ domain binding|IPI; GO:0015143|F:urate transmembrane transporter activity|IDA; GO:0015747|P:urate transport|IDA',NULL,NULL,NULL,NULL,NULL),(135893,'Experimental MF/BP Leaf Term GOA',NULL,4120,NULL,'GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(135894,'Experimental MF/BP Leaf Term GOA',NULL,4125,NULL,'GO:0005462|F:UDP-N-acetylglucosamine transmembrane transporter activity|IDA; GO:0005464|F:UDP-xylose transmembrane transporter activity|IDA; GO:1990569|P:UDP-N-acetylglucosamine transmembrane transport|IDA; GO:0015790|P:UDP-xylose transmembrane transport|IDA',NULL,NULL,NULL,NULL,NULL),(135895,'Experimental MF/BP Leaf Term GOA',NULL,4133,NULL,'GO:0043812|F:phosphatidylinositol-4-phosphate phosphatase activity|IDA; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135896,'Experimental MF/BP Leaf Term GOA',NULL,4135,NULL,'GO:0090110|P:cargo loading into COPII-coated vesicle|IDA',NULL,NULL,NULL,NULL,NULL),(135897,'Experimental MF/BP Leaf Term GOA',NULL,4136,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(135898,'Experimental MF/BP Leaf Term GOA',NULL,4141,NULL,'GO:0032567|F:dGTP binding|IDA; GO:0008832|F:dGTPase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0046061|P:dATP catabolic process|IDA; GO:0006203|P:dGTP catabolic process|IDA; GO:0110025|P:DNA strand resection involved in replication fork processing|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(135899,'Experimental MF/BP Leaf Term GOA',NULL,4142,NULL,'GO:0004565|F:beta-galactosidase activity|IDA; GO:1905573|F:ganglioside GM1 binding|IDA; GO:1905574|F:ganglioside GM2 binding|IDA; GO:1905575|F:ganglioside GM3 binding|IDA; GO:1905577|F:ganglioside GP1c binding|IDA; GO:1905576|F:ganglioside GT1b binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:1905572|P:ganglioside GM1 transport to membrane|IDA',NULL,NULL,NULL,NULL,NULL),(135900,'Experimental MF/BP Leaf Term GOA',NULL,4143,NULL,'GO:0071354|P:cellular response to interleukin-6|IDA',NULL,NULL,NULL,NULL,NULL),(135901,'Experimental MF/BP Leaf Term GOA',NULL,4144,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0090110|P:cargo loading into COPII-coated vesicle|IDA',NULL,NULL,NULL,NULL,NULL),(135902,'Experimental MF/BP Leaf Term GOA',NULL,4150,NULL,'GO:0017025|F:TBP-class protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(135903,'Experimental MF/BP Leaf Term GOA',NULL,4152,NULL,'GO:1902073|P:positive regulation of hypoxia-inducible factor-1alpha signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135904,'Experimental MF/BP Leaf Term GOA',NULL,4155,NULL,'GO:0120053|F:ribitol beta-1,4-xylosyltransferase activity|IDA; GO:0035269|P:protein O-linked mannosylation|IDA',NULL,NULL,NULL,NULL,NULL),(135905,'Experimental MF/BP Leaf Term GOA',NULL,4160,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0044548|F:S100 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(135906,'Experimental MF/BP Leaf Term GOA',NULL,4161,NULL,'GO:0015888|P:thiamine transport|IDA',NULL,NULL,NULL,NULL,NULL),(135907,'Experimental MF/BP Leaf Term GOA',NULL,4164,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135908,'Experimental MF/BP Leaf Term GOA',NULL,4169,NULL,'GO:0050197|F:phytanate-CoA ligase activity|IDA; GO:0070251|F:pristanate-CoA ligase activity|IDA; GO:0031957|F:very long-chain fatty acid-CoA ligase activity|IDA; GO:0006699|P:bile acid biosynthetic process|IDA; GO:0001561|P:fatty acid alpha-oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(135909,'Experimental MF/BP Leaf Term GOA',NULL,4173,NULL,'GO:0031957|F:very long-chain fatty acid-CoA ligase activity|IDA; GO:0006699|P:bile acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135910,'Experimental MF/BP Leaf Term GOA',NULL,4177,NULL,'GO:0006620|P:posttranslational protein targeting to endoplasmic reticulum membrane|IMP; GO:0006614|P:SRP-dependent cotranslational protein targeting to membrane|IMP',NULL,NULL,NULL,NULL,NULL),(135911,'Experimental MF/BP Leaf Term GOA',NULL,4181,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0042532|P:negative regulation of tyrosine phosphorylation of STAT protein|IDA; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA; GO:0001921|P:positive regulation of receptor recycling|IDA',NULL,NULL,NULL,NULL,NULL),(135912,'Experimental MF/BP Leaf Term GOA',NULL,4184,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0048703|P:embryonic viscerocranium morphogenesis|IMP; GO:0060017|P:parathyroid gland development|IMP; GO:0060037|P:pharyngeal system development|IMP; GO:0060023|P:soft palate development|IMP; GO:0048538|P:thymus development|IMP',NULL,NULL,NULL,NULL,NULL),(135913,'Experimental MF/BP Leaf Term GOA',NULL,4189,NULL,'GO:0070034|F:telomerase RNA binding|IPI; GO:0030620|F:U2 snRNA binding|IPI',NULL,NULL,NULL,NULL,NULL),(135914,'Experimental MF/BP Leaf Term GOA',NULL,4198,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(135915,'Experimental MF/BP Leaf Term GOA',NULL,4200,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0050786|F:RAGE receptor binding|IPI; GO:0044548|F:S100 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(135916,'Experimental MF/BP Leaf Term GOA',NULL,4212,NULL,'GO:0032217|F:riboflavin transmembrane transporter activity|IDA; GO:0032218|P:riboflavin transport|IDA',NULL,NULL,NULL,NULL,NULL),(135917,'Experimental MF/BP Leaf Term GOA',NULL,4220,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0070742|F:C2H2 zinc finger domain binding|IPI; GO:0002039|F:p53 binding|IPI; GO:0000492|P:box C/D snoRNP assembly|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(135918,'Experimental MF/BP Leaf Term GOA',NULL,4225,NULL,'GO:0039552|F:RIG-I binding|IPI; GO:0015871|P:choline transport|IDA; GO:0039536|P:negative regulation of RIG-I signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135919,'Experimental MF/BP Leaf Term GOA',NULL,4227,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0034236|F:protein kinase A catalytic subunit binding|IDA; GO:0034237|F:protein kinase A regulatory subunit binding|IDA; GO:0043924|F:suramin binding|IMP; GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IDA; GO:0060048|P:cardiac muscle contraction|IMP; GO:0071313|P:cellular response to caffeine|IDA; GO:0005513|P:detection of calcium ion|IDA; GO:1901896|P:positive regulation of calcium-transporting ATPase activity|IDA; GO:0098735|P:positive regulation of the force of heart contraction|IMP; GO:0098907|P:regulation of SA node cell action potential|IMP; GO:0014808|P:release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|IMP; GO:0097050|P:type B pancreatic cell apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(135920,'Experimental MF/BP Leaf Term GOA',NULL,4229,NULL,'GO:0090416|F:nicotinate transmembrane transporter activity|IDA; GO:2001142|P:nicotinate transport|IDA; GO:0015747|P:urate transport|IDA',NULL,NULL,NULL,NULL,NULL),(135921,'Experimental MF/BP Leaf Term GOA',NULL,4232,NULL,'GO:0043262|F:adenosine-diphosphatase activity|IDA; GO:0080122|F:AMP transmembrane transporter activity|IDA; GO:0015228|F:coenzyme A transmembrane transporter activity|IDA; GO:0080121|P:AMP transport|IDA',NULL,NULL,NULL,NULL,NULL),(135922,'Experimental MF/BP Leaf Term GOA',NULL,4235,NULL,'GO:0015180|F:L-alanine transmembrane transporter activity|IDA; GO:0015182|F:L-asparagine transmembrane transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(135923,'Experimental MF/BP Leaf Term GOA',NULL,4244,NULL,'GO:0061768|F:magnesium:sodium antiporter activity|IMP; GO:0010961|P:cellular magnesium ion homeostasis|IMP; GO:0071286|P:cellular response to magnesium ion|IGI',NULL,NULL,NULL,NULL,NULL),(135924,'Experimental MF/BP Leaf Term GOA',NULL,4249,NULL,'GO:0030619|F:U1 snRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(135925,'Experimental MF/BP Leaf Term GOA',NULL,4250,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(135926,'Experimental MF/BP Leaf Term GOA',NULL,4251,NULL,'GO:0031849|F:olfactory receptor binding|IMP',NULL,NULL,NULL,NULL,NULL),(135927,'Experimental MF/BP Leaf Term GOA',NULL,4252,NULL,'GO:0038036|F:sphingosine-1-phosphate receptor activity|IMP; GO:0031532|P:actin cytoskeleton reorganization|IMP; GO:1903142|P:positive regulation of establishment of endothelial barrier|IMP; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IMP; GO:0003376|P:sphingosine-1-phosphate receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135928,'Experimental MF/BP Leaf Term GOA',NULL,4253,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(135929,'Experimental MF/BP Leaf Term GOA',NULL,4255,NULL,'GO:1901029|P:negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135930,'Experimental MF/BP Leaf Term GOA',NULL,4256,NULL,'GO:0006882|P:cellular zinc ion homeostasis|IDA; GO:0071578|P:zinc ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(135931,'Experimental MF/BP Leaf Term GOA',NULL,4261,NULL,'GO:0090149|P:mitochondrial membrane fission|IDA',NULL,NULL,NULL,NULL,NULL),(135932,'Experimental MF/BP Leaf Term GOA',NULL,4264,NULL,'GO:0007342|P:fusion of sperm to egg plasma membrane involved in single fertilization|IMP',NULL,NULL,NULL,NULL,NULL),(135933,'Experimental MF/BP Leaf Term GOA',NULL,4266,NULL,'GO:0048246|P:macrophage chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(135934,'Experimental MF/BP Leaf Term GOA',NULL,4270,NULL,'GO:0001682|P:tRNA 5\'-leader removal|IDA',NULL,NULL,NULL,NULL,NULL),(135935,'Experimental MF/BP Leaf Term GOA',NULL,4274,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0010736|F:serum response element binding|IDA; GO:0002042|P:cell migration involved in sprouting angiogenesis|IMP; GO:1900222|P:negative regulation of amyloid-beta clearance|IMP; GO:0003257|P:positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|IGI; GO:0010735|P:positive regulation of transcription via serum response element binding|IDA; GO:0001829|P:trophectodermal cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(135936,'Experimental MF/BP Leaf Term GOA',NULL,4275,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0060996|P:dendritic spine development|IDA; GO:0034446|P:substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(135937,'Experimental MF/BP Leaf Term GOA',NULL,4277,NULL,'GO:0008312|F:7S RNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(135938,'Experimental MF/BP Leaf Term GOA',NULL,4279,NULL,'GO:0008312|F:7S RNA binding|IMP; GO:0005047|F:signal recognition particle binding|IPI; GO:0030911|F:TPR domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(135939,'Experimental MF/BP Leaf Term GOA',NULL,4280,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(135940,'Experimental MF/BP Leaf Term GOA',NULL,4283,NULL,'GO:0036458|F:hepatocyte growth factor binding|IDA',NULL,NULL,NULL,NULL,NULL),(135941,'Experimental MF/BP Leaf Term GOA',NULL,4284,NULL,'GO:0070742|F:C2H2 zinc finger domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(135942,'Experimental MF/BP Leaf Term GOA',NULL,4286,NULL,'GO:0005524|F:ATP binding|IDA; GO:0003941|F:L-serine ammonia-lyase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030165|F:PDZ domain binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0030170|F:pyridoxal phosphate binding|IDA; GO:0030378|F:serine racemase activity|IDA; GO:0070179|P:D-serine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(135943,'Experimental MF/BP Leaf Term GOA',NULL,4290,NULL,'GO:0070224|F:sulfide:quinone oxidoreductase activity|IDA; GO:0070221|P:sulfide oxidation, using sulfide:quinone oxidoreductase|IDA',NULL,NULL,NULL,NULL,NULL),(135944,'Experimental MF/BP Leaf Term GOA',NULL,4291,NULL,'GO:0002153|F:steroid receptor RNA activator RNA binding|IDA; GO:0071391|P:cellular response to estrogen stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(135945,'Experimental MF/BP Leaf Term GOA',NULL,4292,NULL,'GO:0070888|F:E-box binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0071404|P:cellular response to low-density lipoprotein particle stimulus|IEP; GO:0090370|P:negative regulation of cholesterol efflux|IDA; GO:0010886|P:positive regulation of cholesterol storage|IDA',NULL,NULL,NULL,NULL,NULL),(135946,'Experimental MF/BP Leaf Term GOA',NULL,4293,NULL,'GO:0005522|F:profilin binding|IPI',NULL,NULL,NULL,NULL,NULL),(135947,'Experimental MF/BP Leaf Term GOA',NULL,4296,NULL,'GO:0034101|P:erythrocyte homeostasis|IMP; GO:0042274|P:ribosomal small subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135948,'Experimental MF/BP Leaf Term GOA',NULL,4298,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0021816|P:extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration|IDA; GO:0051490|P:negative regulation of filopodium assembly|IDA',NULL,NULL,NULL,NULL,NULL),(135949,'Experimental MF/BP Leaf Term GOA',NULL,4300,NULL,'GO:0008626|P:granzyme-mediated apoptotic signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(135950,'Experimental MF/BP Leaf Term GOA',NULL,4303,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(135951,'Experimental MF/BP Leaf Term GOA',NULL,4305,NULL,'GO:0001682|P:tRNA 5\'-leader removal|IDA',NULL,NULL,NULL,NULL,NULL),(135952,'Experimental MF/BP Leaf Term GOA',NULL,4307,NULL,'GO:0046982|F:protein heterodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(135953,'Experimental MF/BP Leaf Term GOA',NULL,4308,NULL,'GO:0043584|P:nose development|IMP; GO:2001034|P:positive regulation of double-strand break repair via nonhomologous end joining|IMP',NULL,NULL,NULL,NULL,NULL),(135954,'Experimental MF/BP Leaf Term GOA',NULL,4310,NULL,'GO:0043923|P:positive regulation by host of viral transcription|IMP',NULL,NULL,NULL,NULL,NULL),(135955,'Experimental MF/BP Leaf Term GOA',NULL,4311,NULL,'GO:0004813|F:alanine-tRNA ligase activity|IMP; GO:0070143|P:mitochondrial alanyl-tRNA aminoacylation|IMP',NULL,NULL,NULL,NULL,NULL),(135956,'Experimental MF/BP Leaf Term GOA',NULL,4313,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA; GO:0005080|F:protein kinase C binding|IPI; GO:0042169|F:SH2 domain binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:0000423|P:mitophagy|IGI; GO:1905719|P:protein localization to perinuclear region of cytoplasm|IDA; GO:0061635|P:regulation of protein complex stability|IDA',NULL,NULL,NULL,NULL,NULL),(135957,'Experimental MF/BP Leaf Term GOA',NULL,4319,NULL,'GO:0070649|P:formin-nucleated actin cable assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135958,'Experimental MF/BP Leaf Term GOA',NULL,4321,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135959,'Experimental MF/BP Leaf Term GOA',NULL,4323,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0000958|P:mitochondrial mRNA catabolic process|IMP; GO:0035946|P:mitochondrial mRNA surveillance|IMP; GO:0035945|P:mitochondrial ncRNA surveillance|IMP; GO:0070584|P:mitochondrion morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135960,'Experimental MF/BP Leaf Term GOA',NULL,4327,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:1990948|F:ubiquitin ligase inhibitor activity|IDA; GO:1904667|P:negative regulation of ubiquitin protein ligase activity|IDA; GO:0050821|P:protein stabilization|IMP; GO:0042274|P:ribosomal small subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135961,'Experimental MF/BP Leaf Term GOA',NULL,4330,NULL,'GO:0070649|P:formin-nucleated actin cable assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135962,'Experimental MF/BP Leaf Term GOA',NULL,4331,NULL,'GO:0003735|F:structural constituent of ribosome|IMP',NULL,NULL,NULL,NULL,NULL),(135963,'Experimental MF/BP Leaf Term GOA',NULL,4332,NULL,'GO:0046974|F:histone methyltransferase activity (H3-K9 specific)|IDA; GO:0071456|P:cellular response to hypoxia|IDA; GO:0000183|P:chromatin silencing at rDNA|IDA',NULL,NULL,NULL,NULL,NULL),(135964,'Experimental MF/BP Leaf Term GOA',NULL,4333,NULL,'GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(135965,'Experimental MF/BP Leaf Term GOA',NULL,4337,NULL,'GO:0051539|F:4 iron, 4 sulfur cluster binding|IDA',NULL,NULL,NULL,NULL,NULL),(135966,'Experimental MF/BP Leaf Term GOA',NULL,4346,NULL,'GO:0042274|P:ribosomal small subunit biogenesis|IMP; GO:0000056|P:ribosomal small subunit export from nucleus|IMP',NULL,NULL,NULL,NULL,NULL),(135967,'Experimental MF/BP Leaf Term GOA',NULL,4347,NULL,'GO:0002042|P:cell migration involved in sprouting angiogenesis|IMP; GO:0021836|P:chemorepulsion involved in postnatal olfactory bulb interneuron migration|IDA; GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IDA; GO:0033600|P:negative regulation of mammary gland epithelial cell proliferation|IMP; GO:0035025|P:positive regulation of Rho protein signal transduction|IMP; GO:1900748|P:positive regulation of vascular endothelial growth factor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135968,'Experimental MF/BP Leaf Term GOA',NULL,4350,NULL,'GO:0004750|F:ribulose-phosphate 3-epimerase activity|EXP',NULL,NULL,NULL,NULL,NULL),(135969,'Experimental MF/BP Leaf Term GOA',NULL,4354,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA',NULL,NULL,NULL,NULL,NULL),(135970,'Experimental MF/BP Leaf Term GOA',NULL,4358,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(135971,'Experimental MF/BP Leaf Term GOA',NULL,4359,NULL,'GO:0001682|P:tRNA 5\'-leader removal|IDA',NULL,NULL,NULL,NULL,NULL),(135972,'Experimental MF/BP Leaf Term GOA',NULL,4362,NULL,'GO:0048487|F:beta-tubulin binding|IDA; GO:0070840|F:dynein complex binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0032876|P:negative regulation of DNA endoreduplication|IMP; GO:0044791|P:positive regulation by host of viral release from host cell|IDA; GO:1901673|P:regulation of mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135973,'Experimental MF/BP Leaf Term GOA',NULL,4363,NULL,'GO:0043539|F:protein serine/threonine kinase activator activity|IMP; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:0010801|P:negative regulation of peptidyl-threonine phosphorylation|IDA; GO:1900747|P:negative regulation of vascular endothelial growth factor signaling pathway|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135974,'Experimental MF/BP Leaf Term GOA',NULL,4364,NULL,'GO:0008312|F:7S RNA binding|IMP; GO:0005047|F:signal recognition particle binding|IPI',NULL,NULL,NULL,NULL,NULL),(135975,'Experimental MF/BP Leaf Term GOA',NULL,4368,NULL,'GO:0017134|F:fibroblast growth factor binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0000462|P:maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|IMP; GO:0002548|P:monocyte chemotaxis|IDA; GO:0060266|P:negative regulation of respiratory burst involved in inflammatory response|IDA; GO:0060265|P:positive regulation of respiratory burst involved in inflammatory response|IDA; GO:0000028|P:ribosomal small subunit assembly|IMP; GO:0042274|P:ribosomal small subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135976,'Experimental MF/BP Leaf Term GOA',NULL,4370,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(135977,'Experimental MF/BP Leaf Term GOA',NULL,4371,NULL,'GO:0003735|F:structural constituent of ribosome|IMP; GO:0002181|P:cytoplasmic translation|IDA; GO:1990145|P:maintenance of translational fidelity|IMP; GO:0034063|P:stress granule assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135978,'Experimental MF/BP Leaf Term GOA',NULL,4372,NULL,'GO:0005525|F:GTP binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1904263|P:positive regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135979,'Experimental MF/BP Leaf Term GOA',NULL,4373,NULL,'GO:0019003|F:GDP binding|IMP; GO:0005525|F:GTP binding|IMP; GO:0046982|F:protein heterodimerization activity|IMP; GO:0071233|P:cellular response to leucine|IMP; GO:1990253|P:cellular response to leucine starvation|IMP; GO:1904263|P:positive regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135980,'Experimental MF/BP Leaf Term GOA',NULL,4374,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(135981,'Experimental MF/BP Leaf Term GOA',NULL,4375,NULL,'GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135982,'Experimental MF/BP Leaf Term GOA',NULL,4378,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(135983,'Experimental MF/BP Leaf Term GOA',NULL,4379,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0002181|P:cytoplasmic translation|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002227|P:innate immune response in mucosa|IDA',NULL,NULL,NULL,NULL,NULL),(135984,'Experimental MF/BP Leaf Term GOA',NULL,4380,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(135985,'Experimental MF/BP Leaf Term GOA',NULL,4381,NULL,'GO:0089720|F:caspase binding|IDA; GO:1990786|P:cellular response to dsDNA|IMP; GO:0039534|P:negative regulation of MDA-5 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(135986,'Experimental MF/BP Leaf Term GOA',NULL,4384,NULL,'GO:0007283|P:spermatogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(135987,'Experimental MF/BP Leaf Term GOA',NULL,4385,NULL,'GO:0005525|F:GTP binding|IDA; GO:0046982|F:protein heterodimerization activity|IMP; GO:1990253|P:cellular response to leucine starvation|IMP; GO:1904263|P:positive regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(135988,'Experimental MF/BP Leaf Term GOA',NULL,4387,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(135989,'Experimental MF/BP Leaf Term GOA',NULL,4389,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(135990,'Experimental MF/BP Leaf Term GOA',NULL,4390,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:0000028|P:ribosomal small subunit assembly|IMP',NULL,NULL,NULL,NULL,NULL),(135991,'Experimental MF/BP Leaf Term GOA',NULL,4391,NULL,'GO:0036148|P:phosphatidylglycerol acyl-chain remodeling|IMP',NULL,NULL,NULL,NULL,NULL),(135992,'Experimental MF/BP Leaf Term GOA',NULL,4392,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:1901899|P:positive regulation of relaxation of cardiac muscle|IGI',NULL,NULL,NULL,NULL,NULL),(135993,'Experimental MF/BP Leaf Term GOA',NULL,4394,NULL,'GO:0030169|F:low-density lipoprotein particle binding|IDA; GO:0005044|F:scavenger receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(135994,'Experimental MF/BP Leaf Term GOA',NULL,4397,NULL,'GO:0038083|P:peptidyl-tyrosine autophosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(135995,'Experimental MF/BP Leaf Term GOA',NULL,4398,NULL,'GO:1990948|F:ubiquitin ligase inhibitor activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0072717|P:cellular response to actinomycin D|IMP; GO:0071157|P:negative regulation of cell cycle arrest|IMP; GO:1904667|P:negative regulation of ubiquitin protein ligase activity|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(135996,'Experimental MF/BP Leaf Term GOA',NULL,4399,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IMP; GO:0071480|P:cellular response to gamma radiation|IDA; GO:0006977|P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|IMP; GO:1902164|P:positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IMP; GO:1902167|P:positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP; GO:1904803|P:regulation of translation involved in cellular response to UV|IMP; GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(135997,'Experimental MF/BP Leaf Term GOA',NULL,4401,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA',NULL,NULL,NULL,NULL,NULL),(135998,'Experimental MF/BP Leaf Term GOA',NULL,4404,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002227|P:innate immune response in mucosa|IDA',NULL,NULL,NULL,NULL,NULL),(135999,'Experimental MF/BP Leaf Term GOA',NULL,4408,NULL,'GO:0046982|F:protein heterodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(136000,'Experimental MF/BP Leaf Term GOA',NULL,4409,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(136001,'Experimental MF/BP Leaf Term GOA',NULL,4415,NULL,'GO:0042274|P:ribosomal small subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136002,'Experimental MF/BP Leaf Term GOA',NULL,4416,NULL,'GO:0005158|F:insulin receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(136003,'Experimental MF/BP Leaf Term GOA',NULL,4419,NULL,'GO:0034446|P:substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(136004,'Experimental MF/BP Leaf Term GOA',NULL,4422,NULL,'GO:0046875|F:ephrin receptor binding|IPI; GO:0020037|F:heme binding|IDA; GO:0044325|F:ion channel binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0097110|F:scaffold protein binding|IPI; GO:0042169|F:SH2 domain binding|IPI; GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:2000811|P:negative regulation of anoikis|IMP; GO:0051902|P:negative regulation of mitochondrial depolarization|IMP; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IMP; GO:2000394|P:positive regulation of lamellipodium morphogenesis|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP; GO:0043149|P:stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136005,'Experimental MF/BP Leaf Term GOA',NULL,4428,NULL,'GO:0042813|F:Wnt-activated receptor activity|IMP; GO:0017147|F:Wnt-protein binding|IPI; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(136006,'Experimental MF/BP Leaf Term GOA',NULL,4431,NULL,'GO:0042274|P:ribosomal small subunit biogenesis|IDA',NULL,NULL,NULL,NULL,NULL),(136007,'Experimental MF/BP Leaf Term GOA',NULL,4432,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(136008,'Experimental MF/BP Leaf Term GOA',NULL,4437,NULL,'GO:0098505|F:G-rich strand telomeric DNA binding|IDA; GO:0035198|F:miRNA binding|IDA; GO:0061752|F:telomeric repeat-containing RNA binding|IDA; GO:1903936|P:cellular response to sodium arsenite|IDA; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IMP; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IDA; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IMP',NULL,NULL,NULL,NULL,NULL),(136009,'Experimental MF/BP Leaf Term GOA',NULL,4438,NULL,'GO:0001054|F:RNA polymerase I activity|IMP; GO:1904750|P:negative regulation of protein localization to nucleolus|IMP',NULL,NULL,NULL,NULL,NULL),(136010,'Experimental MF/BP Leaf Term GOA',NULL,4439,NULL,'GO:0072518|F:Rho-dependent protein serine/threonine kinase activity|IMP; GO:0071394|P:cellular response to testosterone stimulus|IMP; GO:0051298|P:centrosome duplication|IMP; GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IMP; GO:1903347|P:negative regulation of bicellular tight junction assembly|IGI; GO:0035509|P:negative regulation of myosin-light-chain-phosphatase activity|IMP; GO:0150033|P:negative regulation of protein localization to lysosome|IMP; GO:1902004|P:positive regulation of amyloid-beta formation|IMP; GO:1902961|P:positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process|IMP; GO:1902966|P:positive regulation of protein localization to early endosome|IMP; GO:0051496|P:positive regulation of stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136011,'Experimental MF/BP Leaf Term GOA',NULL,4443,NULL,'GO:1902570|P:protein localization to nucleolus|IMP; GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136012,'Experimental MF/BP Leaf Term GOA',NULL,4445,NULL,'GO:0030742|F:GTP-dependent protein binding|IPI; GO:0017034|F:Rap guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136013,'Experimental MF/BP Leaf Term GOA',NULL,4447,NULL,'GO:0050908|P:detection of light stimulus involved in visual perception|IMP; GO:1901827|P:zeaxanthin biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136014,'Experimental MF/BP Leaf Term GOA',NULL,4452,NULL,'GO:0017151|F:DEAD/H-box RNA helicase binding|IPI; GO:0001530|F:lipopolysaccharide binding|IDA; GO:0070878|F:primary miRNA binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0070412|F:R-SMAD binding|IPI; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(136015,'Experimental MF/BP Leaf Term GOA',NULL,4454,NULL,'GO:0071712|P:ER-associated misfolded protein catabolic process|IMP; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136016,'Experimental MF/BP Leaf Term GOA',NULL,4458,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IMP',NULL,NULL,NULL,NULL,NULL),(136017,'Experimental MF/BP Leaf Term GOA',NULL,4459,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IMP; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0001302|P:replicative cell aging|IMP',NULL,NULL,NULL,NULL,NULL),(136018,'Experimental MF/BP Leaf Term GOA',NULL,4460,NULL,'GO:0045494|P:photoreceptor cell maintenance|IMP',NULL,NULL,NULL,NULL,NULL),(136019,'Experimental MF/BP Leaf Term GOA',NULL,4471,NULL,'GO:0051865|P:protein autoubiquitination|IDA; GO:0002040|P:sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136020,'Experimental MF/BP Leaf Term GOA',NULL,4474,NULL,'GO:0051865|P:protein autoubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(136021,'Experimental MF/BP Leaf Term GOA',NULL,4476,NULL,'GO:0005109|F:frizzled binding|IPI; GO:0038018|P:Wnt receptor catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136022,'Experimental MF/BP Leaf Term GOA',NULL,4478,NULL,'GO:0004523|F:RNA-DNA hybrid ribonuclease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136023,'Experimental MF/BP Leaf Term GOA',NULL,4481,NULL,'GO:0046982|F:protein heterodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(136024,'Experimental MF/BP Leaf Term GOA',NULL,4482,NULL,'GO:0017034|F:Rap guanyl-nucleotide exchange factor activity|IDA; GO:0071320|P:cellular response to cAMP|IDA; GO:0038180|P:nerve growth factor signaling pathway|IDA; GO:0032486|P:Rap protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(136025,'Experimental MF/BP Leaf Term GOA',NULL,4484,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0004750|F:ribulose-phosphate 3-epimerase activity|IDA; GO:0006098|P:pentose-phosphate shunt|IDA',NULL,NULL,NULL,NULL,NULL),(136026,'Experimental MF/BP Leaf Term GOA',NULL,4486,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0030544|F:Hsp70 protein binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:1902261|P:positive regulation of delayed rectifier potassium channel activity|IGI; GO:1903762|P:positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization|IMP',NULL,NULL,NULL,NULL,NULL),(136027,'Experimental MF/BP Leaf Term GOA',NULL,4507,NULL,'GO:0001530|F:lipopolysaccharide binding|IDA; GO:0042834|F:peptidoglycan binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(136028,'Experimental MF/BP Leaf Term GOA',NULL,4508,NULL,'GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136029,'Experimental MF/BP Leaf Term GOA',NULL,4511,NULL,'GO:0031648|P:protein destabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136030,'Experimental MF/BP Leaf Term GOA',NULL,4512,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136031,'Experimental MF/BP Leaf Term GOA',NULL,4515,NULL,'GO:0070006|F:metalloaminopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136032,'Experimental MF/BP Leaf Term GOA',NULL,4516,NULL,'GO:0008142|F:oxysterol binding|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136033,'Experimental MF/BP Leaf Term GOA',NULL,4522,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(136034,'Experimental MF/BP Leaf Term GOA',NULL,4523,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0070535|P:histone H2A K63-linked ubiquitination|IDA; GO:0034244|P:negative regulation of transcription elongation from RNA polymerase II promoter|IMP; GO:0051865|P:protein autoubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136035,'Experimental MF/BP Leaf Term GOA',NULL,4524,NULL,'GO:0072684|P:mitochondrial tRNA 3\'-trailer cleavage, endonucleolytic|IMP',NULL,NULL,NULL,NULL,NULL),(136036,'Experimental MF/BP Leaf Term GOA',NULL,4526,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136037,'Experimental MF/BP Leaf Term GOA',NULL,4528,NULL,'GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136038,'Experimental MF/BP Leaf Term GOA',NULL,4530,NULL,'GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136039,'Experimental MF/BP Leaf Term GOA',NULL,4531,NULL,'GO:0060816|P:random inactivation of X chromosome|IDA',NULL,NULL,NULL,NULL,NULL),(136040,'Experimental MF/BP Leaf Term GOA',NULL,4532,NULL,'GO:0004523|F:RNA-DNA hybrid ribonuclease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136041,'Experimental MF/BP Leaf Term GOA',NULL,4534,NULL,'GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(136042,'Experimental MF/BP Leaf Term GOA',NULL,4535,NULL,'GO:0031435|F:mitogen-activated protein kinase kinase kinase binding|IPI; GO:0017147|F:Wnt-protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(136043,'Experimental MF/BP Leaf Term GOA',NULL,4538,NULL,'GO:0004813|F:alanine-tRNA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136044,'Experimental MF/BP Leaf Term GOA',NULL,4542,NULL,'GO:0071364|P:cellular response to epidermal growth factor stimulus|IMP; GO:0032869|P:cellular response to insulin stimulus|IMP; GO:1990314|P:cellular response to insulin-like growth factor stimulus|IMP; GO:0036120|P:cellular response to platelet-derived growth factor stimulus|IMP; GO:0090073|P:positive regulation of protein homodimerization activity|IMP; GO:0038203|P:TORC2 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(136045,'Experimental MF/BP Leaf Term GOA',NULL,4546,NULL,'GO:0035878|P:nail development|IMP',NULL,NULL,NULL,NULL,NULL),(136046,'Experimental MF/BP Leaf Term GOA',NULL,4550,NULL,'GO:0017049|F:GTP-Rho binding|IDA; GO:0005095|F:GTPase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136047,'Experimental MF/BP Leaf Term GOA',NULL,4551,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(136048,'Experimental MF/BP Leaf Term GOA',NULL,4555,NULL,'GO:0050786|F:RAGE receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(136049,'Experimental MF/BP Leaf Term GOA',NULL,4557,NULL,'GO:0015218|F:pyrimidine nucleotide transmembrane transporter activity|IDA; GO:0032869|P:cellular response to insulin stimulus|IDA; GO:1990314|P:cellular response to insulin-like growth factor stimulus|IDA; GO:0034551|P:mitochondrial respiratory chain complex III assembly|IMP; GO:1990519|P:pyrimidine nucleotide import into mitochondrion|IMP',NULL,NULL,NULL,NULL,NULL),(136050,'Experimental MF/BP Leaf Term GOA',NULL,4566,NULL,'GO:0032968|P:positive regulation of transcription elongation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(136051,'Experimental MF/BP Leaf Term GOA',NULL,4568,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(136052,'Experimental MF/BP Leaf Term GOA',NULL,4570,NULL,'GO:0015333|F:peptide:proton symporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(136053,'Experimental MF/BP Leaf Term GOA',NULL,4571,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0004879|F:nuclear receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136054,'Experimental MF/BP Leaf Term GOA',NULL,4579,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136055,'Experimental MF/BP Leaf Term GOA',NULL,4581,NULL,'GO:0033300|F:dehydroascorbic acid transmembrane transporter activity|IMP; GO:0070890|F:sodium-dependent L-ascorbate transmembrane transporter activity|IDA; GO:0070837|P:dehydroascorbic acid transport|IMP; GO:0015882|P:L-ascorbic acid transmembrane transport|IDA; GO:0070904|P:transepithelial L-ascorbic acid transport|IDA',NULL,NULL,NULL,NULL,NULL),(136056,'Experimental MF/BP Leaf Term GOA',NULL,4582,NULL,'GO:0070890|F:sodium-dependent L-ascorbate transmembrane transporter activity|IDA; GO:0015882|P:L-ascorbic acid transmembrane transport|IDA; GO:0070904|P:transepithelial L-ascorbic acid transport|IDA',NULL,NULL,NULL,NULL,NULL),(136057,'Experimental MF/BP Leaf Term GOA',NULL,4590,NULL,'GO:0005524|F:ATP binding|IMP; GO:1904430|P:negative regulation of t-circle formation|IMP',NULL,NULL,NULL,NULL,NULL),(136058,'Experimental MF/BP Leaf Term GOA',NULL,4592,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0000979|F:RNA polymerase II core promoter sequence-specific DNA binding|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA; GO:0017025|F:TBP-class protein binding|IDA; GO:0071392|P:cellular response to estradiol stimulus|IMP; GO:0071899|P:negative regulation of estrogen receptor binding|IMP; GO:0071733|P:transcriptional activation by promoter-enhancer looping|IMP',NULL,NULL,NULL,NULL,NULL),(136059,'Experimental MF/BP Leaf Term GOA',NULL,4595,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0044548|F:S100 protein binding|IPI; GO:0005523|F:tropomyosin binding|IDA',NULL,NULL,NULL,NULL,NULL),(136060,'Experimental MF/BP Leaf Term GOA',NULL,4601,NULL,'GO:0016584|P:nucleosome positioning|IDA',NULL,NULL,NULL,NULL,NULL),(136061,'Experimental MF/BP Leaf Term GOA',NULL,4603,NULL,'GO:0060173|P:limb development|IMP',NULL,NULL,NULL,NULL,NULL),(136062,'Experimental MF/BP Leaf Term GOA',NULL,4604,NULL,'GO:0003877|F:ATP adenylyltransferase activity|IDA; GO:0004824|F:lysine-tRNA ligase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0015966|P:diadenosine tetraphosphate biosynthetic process|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IGI; GO:1900017|P:positive regulation of cytokine production involved in inflammatory response|IDA; GO:0002741|P:positive regulation of cytokine secretion involved in immune response|IDA; GO:0010759|P:positive regulation of macrophage chemotaxis|IDA; GO:1900745|P:positive regulation of p38MAPK cascade|IDA',NULL,NULL,NULL,NULL,NULL),(136063,'Experimental MF/BP Leaf Term GOA',NULL,4609,NULL,'GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(136064,'Experimental MF/BP Leaf Term GOA',NULL,4610,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071787|P:endoplasmic reticulum tubular network formation|IDA; GO:1990809|P:endoplasmic reticulum tubular network membrane organization|IMP; GO:1905580|P:positive regulation of ERBB3 signaling pathway|IMP; GO:0033601|P:positive regulation of mammary gland epithelial cell proliferation|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP; GO:1905552|P:positive regulation of protein localization to endoplasmic reticulum|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136065,'Experimental MF/BP Leaf Term GOA',NULL,4615,NULL,'GO:0097177|F:mitochondrial ribosome binding|IDA',NULL,NULL,NULL,NULL,NULL),(136066,'Experimental MF/BP Leaf Term GOA',NULL,4616,NULL,'GO:0003972|F:RNA ligase (ATP) activity|IDA; GO:0017166|F:vinculin binding|IPI; GO:0006388|P:tRNA splicing, via endonucleolytic cleavage and ligation|IDA',NULL,NULL,NULL,NULL,NULL),(136067,'Experimental MF/BP Leaf Term GOA',NULL,4617,NULL,'GO:0031849|F:olfactory receptor binding|IMP',NULL,NULL,NULL,NULL,NULL),(136068,'Experimental MF/BP Leaf Term GOA',NULL,4621,NULL,'GO:0003735|F:structural constituent of ribosome|IDA',NULL,NULL,NULL,NULL,NULL),(136069,'Experimental MF/BP Leaf Term GOA',NULL,4624,NULL,'GO:0019871|F:sodium channel inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136070,'Experimental MF/BP Leaf Term GOA',NULL,4627,NULL,'GO:0061668|P:mitochondrial ribosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136071,'Experimental MF/BP Leaf Term GOA',NULL,4633,NULL,'GO:0006388|P:tRNA splicing, via endonucleolytic cleavage and ligation|IMP',NULL,NULL,NULL,NULL,NULL),(136072,'Experimental MF/BP Leaf Term GOA',NULL,4635,NULL,'GO:1901097|P:negative regulation of autophagosome maturation|IMP',NULL,NULL,NULL,NULL,NULL),(136073,'Experimental MF/BP Leaf Term GOA',NULL,4636,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(136074,'Experimental MF/BP Leaf Term GOA',NULL,4637,NULL,'GO:0061364|P:apoptotic process involved in luteolysis|IEP; GO:0007420|P:brain development|IEP; GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IDA; GO:0001657|P:ureteric bud development|IMP',NULL,NULL,NULL,NULL,NULL),(136075,'Experimental MF/BP Leaf Term GOA',NULL,4639,NULL,'GO:0035198|F:miRNA binding|IDA; GO:1990247|F:N6-methyladenosine-containing RNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(136076,'Experimental MF/BP Leaf Term GOA',NULL,4643,NULL,'GO:0008453|F:alanine-glyoxylate transaminase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0030170|F:pyridoxal phosphate binding|IDA; GO:0019265|P:glycine biosynthetic process, by transamination of glyoxylate|IDA; GO:0009436|P:glyoxylate catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136077,'Experimental MF/BP Leaf Term GOA',NULL,4647,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0097039|P:protein linear polyubiquitination|IDA; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136078,'Experimental MF/BP Leaf Term GOA',NULL,4648,NULL,'GO:0002039|F:p53 binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:2001271|P:negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis|IMP; GO:0070936|P:protein K48-linked ubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(136079,'Experimental MF/BP Leaf Term GOA',NULL,4652,NULL,'GO:0035928|P:rRNA import into mitochondrion|IDA',NULL,NULL,NULL,NULL,NULL),(136080,'Experimental MF/BP Leaf Term GOA',NULL,4661,NULL,'GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136081,'Experimental MF/BP Leaf Term GOA',NULL,4667,NULL,'GO:0070979|P:protein K11-linked ubiquitination|IDA; GO:1905719|P:protein localization to perinuclear region of cytoplasm|IDA',NULL,NULL,NULL,NULL,NULL),(136082,'Experimental MF/BP Leaf Term GOA',NULL,4670,NULL,'GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136083,'Experimental MF/BP Leaf Term GOA',NULL,4672,NULL,'GO:0050681|F:androgen receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(136084,'Experimental MF/BP Leaf Term GOA',NULL,4674,NULL,'GO:0051379|F:epinephrine binding|IDA; GO:0097621|F:monoamine oxidase activity|IMP; GO:0070404|F:NADH binding|IDA',NULL,NULL,NULL,NULL,NULL),(136085,'Experimental MF/BP Leaf Term GOA',NULL,4683,NULL,'GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136086,'Experimental MF/BP Leaf Term GOA',NULL,4687,NULL,'GO:0071629|P:cytoplasm protein quality control by the ubiquitin-proteasome system|IMP; GO:0043162|P:ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136087,'Experimental MF/BP Leaf Term GOA',NULL,4688,NULL,'GO:0016322|P:neuron remodeling|IDA',NULL,NULL,NULL,NULL,NULL),(136088,'Experimental MF/BP Leaf Term GOA',NULL,4691,NULL,'GO:0003735|F:structural constituent of ribosome|IDA',NULL,NULL,NULL,NULL,NULL),(136089,'Experimental MF/BP Leaf Term GOA',NULL,4697,NULL,'GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136090,'Experimental MF/BP Leaf Term GOA',NULL,4700,NULL,'GO:0010792|P:DNA double-strand break processing involved in repair via single-strand annealing|IMP',NULL,NULL,NULL,NULL,NULL),(136091,'Experimental MF/BP Leaf Term GOA',NULL,4701,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA; GO:0070535|P:histone H2A K63-linked ubiquitination|IDA; GO:0036351|P:histone H2A-K13 ubiquitination|IDA; GO:0036352|P:histone H2A-K15 ubiquitination|IDA; GO:0034244|P:negative regulation of transcription elongation from RNA polymerase II promoter|IMP',NULL,NULL,NULL,NULL,NULL),(136092,'Experimental MF/BP Leaf Term GOA',NULL,4702,NULL,'GO:0048539|P:bone marrow development|IMP; GO:0042256|P:mature ribosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136093,'Experimental MF/BP Leaf Term GOA',NULL,4704,NULL,'GO:0050681|F:androgen receptor binding|IPI; GO:0044314|P:protein K27-linked ubiquitination|IDA; GO:0085020|P:protein K6-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136094,'Experimental MF/BP Leaf Term GOA',NULL,4710,NULL,'GO:0072572|F:poly-ADP-D-ribose binding|IDA; GO:0051865|P:protein autoubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(136095,'Experimental MF/BP Leaf Term GOA',NULL,4712,NULL,'GO:0002039|F:p53 binding|IPI; GO:0031624|F:ubiquitin conjugating enzyme binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0039536|P:negative regulation of RIG-I signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136096,'Experimental MF/BP Leaf Term GOA',NULL,4718,NULL,'GO:0070125|P:mitochondrial translational elongation|IMP',NULL,NULL,NULL,NULL,NULL),(136097,'Experimental MF/BP Leaf Term GOA',NULL,4722,NULL,'GO:0051865|P:protein autoubiquitination|IDA; GO:0035519|P:protein K29-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136098,'Experimental MF/BP Leaf Term GOA',NULL,4724,NULL,'GO:0051059|F:NF-kappaB binding|IPI',NULL,NULL,NULL,NULL,NULL),(136099,'Experimental MF/BP Leaf Term GOA',NULL,4726,NULL,'GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136100,'Experimental MF/BP Leaf Term GOA',NULL,4727,NULL,'GO:0003735|F:structural constituent of ribosome|IDA',NULL,NULL,NULL,NULL,NULL),(136101,'Experimental MF/BP Leaf Term GOA',NULL,4732,NULL,'GO:0032184|F:SUMO polymer binding|IDA',NULL,NULL,NULL,NULL,NULL),(136102,'Experimental MF/BP Leaf Term GOA',NULL,4734,NULL,'GO:0004522|F:ribonuclease A activity|IDA; GO:0061760|P:antifungal innate immune response|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(136103,'Experimental MF/BP Leaf Term GOA',NULL,4736,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136104,'Experimental MF/BP Leaf Term GOA',NULL,4737,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(136105,'Experimental MF/BP Leaf Term GOA',NULL,4741,NULL,'GO:0003735|F:structural constituent of ribosome|IDA',NULL,NULL,NULL,NULL,NULL),(136106,'Experimental MF/BP Leaf Term GOA',NULL,4745,NULL,'GO:0003735|F:structural constituent of ribosome|IDA',NULL,NULL,NULL,NULL,NULL),(136107,'Experimental MF/BP Leaf Term GOA',NULL,4746,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(136108,'Experimental MF/BP Leaf Term GOA',NULL,4750,NULL,'GO:1904262|P:negative regulation of TORC1 signaling|IMP; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136109,'Experimental MF/BP Leaf Term GOA',NULL,4752,NULL,'GO:0008420|F:RNA polymerase II CTD heptapeptide repeat phosphatase activity|IMP; GO:0070940|P:dephosphorylation of RNA polymerase II C-terminal domain|IMP',NULL,NULL,NULL,NULL,NULL),(136110,'Experimental MF/BP Leaf Term GOA',NULL,4756,NULL,'GO:0004751|F:ribose-5-phosphate isomerase activity|EXP',NULL,NULL,NULL,NULL,NULL),(136111,'Experimental MF/BP Leaf Term GOA',NULL,4759,NULL,'GO:0005096|F:GTPase activator activity|EXP',NULL,NULL,NULL,NULL,NULL),(136112,'Experimental MF/BP Leaf Term GOA',NULL,4761,NULL,'GO:0051865|P:protein autoubiquitination|IDA; GO:0031648|P:protein destabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136113,'Experimental MF/BP Leaf Term GOA',NULL,4763,NULL,'GO:0007420|P:brain development|IMP',NULL,NULL,NULL,NULL,NULL),(136114,'Experimental MF/BP Leaf Term GOA',NULL,4764,NULL,'GO:0008142|F:oxysterol binding|IDA; GO:0071456|P:cellular response to hypoxia|IMP; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IMP',NULL,NULL,NULL,NULL,NULL),(136115,'Experimental MF/BP Leaf Term GOA',NULL,4768,NULL,'GO:0031697|F:beta-1 adrenergic receptor binding|IDA; GO:0030552|F:cAMP binding|IDA; GO:0005096|F:GTPase activator activity|IDA; GO:0030165|F:PDZ domain binding|IDA; GO:0070300|F:phosphatidic acid binding|IDA; GO:0017034|F:Rap guanyl-nucleotide exchange factor activity|IDA; GO:0050699|F:WW domain binding|IDA; GO:0071320|P:cellular response to cAMP|IDA; GO:0071321|P:cellular response to cGMP|IDA; GO:0090557|P:establishment of endothelial intestinal barrier|IMP; GO:0030033|P:microvillus assembly|IGI; GO:2000481|P:positive regulation of cAMP-dependent protein kinase activity|IDA; GO:2000670|P:positive regulation of dendritic cell apoptotic process|IDA; GO:0032486|P:Rap protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(136116,'Experimental MF/BP Leaf Term GOA',NULL,4769,NULL,'GO:0030742|F:GTP-dependent protein binding|IDA; GO:0070300|F:phosphatidic acid binding|IDA; GO:0030033|P:microvillus assembly|IGI',NULL,NULL,NULL,NULL,NULL),(136117,'Experimental MF/BP Leaf Term GOA',NULL,4770,NULL,'GO:0001682|P:tRNA 5\'-leader removal|IDA',NULL,NULL,NULL,NULL,NULL),(136118,'Experimental MF/BP Leaf Term GOA',NULL,4772,NULL,'GO:0051865|P:protein autoubiquitination|IDA; GO:0043162|P:ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136119,'Experimental MF/BP Leaf Term GOA',NULL,4773,NULL,'GO:1902237|P:positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway|IMP; GO:0051865|P:protein autoubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(136120,'Experimental MF/BP Leaf Term GOA',NULL,4781,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0032876|P:negative regulation of DNA endoreduplication|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136121,'Experimental MF/BP Leaf Term GOA',NULL,4782,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0030346|F:protein phosphatase 2B binding|IDA; GO:0004784|F:superoxide dismutase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0060047|P:heart contraction|IDA; GO:0050665|P:hydrogen peroxide biosynthetic process|IDA; GO:0045541|P:negative regulation of cholesterol biosynthetic process|IDA; GO:0032930|P:positive regulation of superoxide anion generation|IDA',NULL,NULL,NULL,NULL,NULL),(136122,'Experimental MF/BP Leaf Term GOA',NULL,4784,NULL,'GO:0001164|F:RNA polymerase I CORE element sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(136123,'Experimental MF/BP Leaf Term GOA',NULL,4788,NULL,'GO:0072518|F:Rho-dependent protein serine/threonine kinase activity|IDA; GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IMP; GO:0050901|P:leukocyte tethering or rolling|IDA; GO:0022614|P:membrane to membrane docking|IDA; GO:1902430|P:negative regulation of amyloid-beta formation|IMP; GO:1903347|P:negative regulation of bicellular tight junction assembly|IGI; GO:0035509|P:negative regulation of myosin-light-chain-phosphatase activity|IMP; GO:1900223|P:positive regulation of amyloid-beta clearance|IGI',NULL,NULL,NULL,NULL,NULL),(136124,'Experimental MF/BP Leaf Term GOA',NULL,4794,NULL,'GO:0017034|F:Rap guanyl-nucleotide exchange factor activity|IMP; GO:0071320|P:cellular response to cAMP|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IMP; GO:0032486|P:Rap protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(136125,'Experimental MF/BP Leaf Term GOA',NULL,4796,NULL,'GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(136126,'Experimental MF/BP Leaf Term GOA',NULL,4803,NULL,'GO:0070940|P:dephosphorylation of RNA polymerase II C-terminal domain|IMP',NULL,NULL,NULL,NULL,NULL),(136127,'Experimental MF/BP Leaf Term GOA',NULL,4807,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:1903697|P:negative regulation of microvillus assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136128,'Experimental MF/BP Leaf Term GOA',NULL,4808,NULL,'GO:0001682|P:tRNA 5\'-leader removal|IDA',NULL,NULL,NULL,NULL,NULL),(136129,'Experimental MF/BP Leaf Term GOA',NULL,4809,NULL,'GO:0046982|F:protein heterodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(136130,'Experimental MF/BP Leaf Term GOA',NULL,4815,NULL,'GO:0010801|P:negative regulation of peptidyl-threonine phosphorylation|IMP; GO:0060979|P:vasculogenesis involved in coronary vascular morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136131,'Experimental MF/BP Leaf Term GOA',NULL,4826,NULL,'GO:0004062|F:aryl sulfotransferase activity|IDA; GO:0006068|P:ethanol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136132,'Experimental MF/BP Leaf Term GOA',NULL,4827,NULL,'GO:0005524|F:ATP binding|IDA; GO:2000271|P:positive regulation of fibroblast apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(136133,'Experimental MF/BP Leaf Term GOA',NULL,4829,NULL,'GO:0008656|F:cysteine-type endopeptidase activator activity involved in apoptotic process|IDA; GO:0071494|P:cellular response to UV-C|IMP; GO:1902512|P:positive regulation of apoptotic DNA fragmentation|IDA',NULL,NULL,NULL,NULL,NULL),(136134,'Experimental MF/BP Leaf Term GOA',NULL,4831,NULL,'GO:0004062|F:aryl sulfotransferase activity|IDA; GO:0047894|F:flavonol 3-sulfotransferase activity|IDA; GO:0050294|F:steroid sulfotransferase activity|IDA; GO:0006068|P:ethanol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136135,'Experimental MF/BP Leaf Term GOA',NULL,4833,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(136136,'Experimental MF/BP Leaf Term GOA',NULL,4837,NULL,'GO:0030169|F:low-density lipoprotein particle binding|IDA; GO:0005041|F:low-density lipoprotein particle receptor activity|IDA; GO:0005044|F:scavenger receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136137,'Experimental MF/BP Leaf Term GOA',NULL,4838,NULL,'GO:1901673|P:regulation of mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136138,'Experimental MF/BP Leaf Term GOA',NULL,4839,NULL,'GO:0032876|P:negative regulation of DNA endoreduplication|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136139,'Experimental MF/BP Leaf Term GOA',NULL,4841,NULL,'GO:1903543|P:positive regulation of exosomal secretion|IMP',NULL,NULL,NULL,NULL,NULL),(136140,'Experimental MF/BP Leaf Term GOA',NULL,4842,NULL,'GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0005070|F:SH3/SH2 adaptor activity|IPI; GO:0050861|P:positive regulation of B cell receptor signaling pathway|IDA; GO:1903997|P:positive regulation of non-membrane spanning protein tyrosine kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136141,'Experimental MF/BP Leaf Term GOA',NULL,4843,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0004879|F:nuclear receptor activity|IDA; GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI; GO:0044320|P:cellular response to leptin stimulus|IDA; GO:0070102|P:interleukin-6-mediated signaling pathway|IDA; GO:0060397|P:JAK-STAT cascade involved in growth hormone signaling pathway|IDA; GO:0035278|P:miRNA mediated inhibition of translation|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(136142,'Experimental MF/BP Leaf Term GOA',NULL,4844,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0051683|P:establishment of Golgi localization|IMP; GO:0090168|P:Golgi reassembly|IMP',NULL,NULL,NULL,NULL,NULL),(136143,'Experimental MF/BP Leaf Term GOA',NULL,4845,NULL,'GO:0032237|P:activation of store-operated calcium channel activity|IDA; GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IDA; GO:0070886|P:positive regulation of calcineurin-NFAT signaling cascade|IDA',NULL,NULL,NULL,NULL,NULL),(136144,'Experimental MF/BP Leaf Term GOA',NULL,4846,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0030033|P:microvillus assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136145,'Experimental MF/BP Leaf Term GOA',NULL,4848,NULL,'GO:0035438|F:cyclic-di-GMP binding|IDA; GO:0061507|F:cyclic-GMP-AMP binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0071360|P:cellular response to exogenous dsRNA|IMP; GO:0032608|P:interferon-beta production|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IMP; GO:0033160|P:positive regulation of protein import into nucleus, translocation|IDA',NULL,NULL,NULL,NULL,NULL),(136146,'Experimental MF/BP Leaf Term GOA',NULL,4850,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136147,'Experimental MF/BP Leaf Term GOA',NULL,4851,NULL,'GO:0004879|F:nuclear receptor activity|IDA; GO:0008585|P:female gonad development|IMP; GO:0008584|P:male gonad development|IMP',NULL,NULL,NULL,NULL,NULL),(136148,'Experimental MF/BP Leaf Term GOA',NULL,4853,NULL,'GO:1901612|F:cardiolipin binding|IDA; GO:0042776|P:mitochondrial ATP synthesis coupled proton transport|IMP; GO:1900210|P:positive regulation of cardiolipin metabolic process|IMP; GO:0090297|P:positive regulation of mitochondrial DNA replication|IMP; GO:0010918|P:positive regulation of mitochondrial membrane potential|IMP; GO:0050852|P:T cell receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136149,'Experimental MF/BP Leaf Term GOA',NULL,4857,NULL,'GO:0070016|F:armadillo repeat domain binding|IPI; GO:0051721|F:protein phosphatase 2A binding|IDA',NULL,NULL,NULL,NULL,NULL),(136150,'Experimental MF/BP Leaf Term GOA',NULL,4858,NULL,'GO:0070016|F:armadillo repeat domain binding|IPI; GO:0051721|F:protein phosphatase 2A binding|IDA',NULL,NULL,NULL,NULL,NULL),(136151,'Experimental MF/BP Leaf Term GOA',NULL,4860,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0099044|P:vesicle tethering to endoplasmic reticulum|IDA',NULL,NULL,NULL,NULL,NULL),(136152,'Experimental MF/BP Leaf Term GOA',NULL,4861,NULL,'GO:0004579|F:dolichyl-diphosphooligosaccharide-protein glycotransferase activity|IMP',NULL,NULL,NULL,NULL,NULL),(136153,'Experimental MF/BP Leaf Term GOA',NULL,4862,NULL,'GO:0004579|F:dolichyl-diphosphooligosaccharide-protein glycotransferase activity|IMP',NULL,NULL,NULL,NULL,NULL),(136154,'Experimental MF/BP Leaf Term GOA',NULL,4863,NULL,'GO:0017075|F:syntaxin-1 binding|IPI; GO:0070527|P:platelet aggregation|IMP; GO:0002576|P:platelet degranulation|IMP',NULL,NULL,NULL,NULL,NULL),(136155,'Experimental MF/BP Leaf Term GOA',NULL,4864,NULL,'GO:0045116|P:protein neddylation|IDA',NULL,NULL,NULL,NULL,NULL),(136156,'Experimental MF/BP Leaf Term GOA',NULL,4865,NULL,'GO:0010838|P:positive regulation of keratinocyte proliferation|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136157,'Experimental MF/BP Leaf Term GOA',NULL,4878,NULL,'GO:0046966|F:thyroid hormone receptor binding|IDA; GO:1901315|P:negative regulation of histone H2A K63-linked ubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(136158,'Experimental MF/BP Leaf Term GOA',NULL,4879,NULL,'GO:0061953|F:mRNA (adenine-N1-)-methyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136159,'Experimental MF/BP Leaf Term GOA',NULL,4882,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI; GO:0061419|P:positive regulation of transcription from RNA polymerase II promoter in response to hypoxia|IDA; GO:0007221|P:positive regulation of transcription of Notch receptor target|IDA',NULL,NULL,NULL,NULL,NULL),(136160,'Experimental MF/BP Leaf Term GOA',NULL,4883,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136161,'Experimental MF/BP Leaf Term GOA',NULL,4884,NULL,'GO:0030578|P:PML body organization|IMP',NULL,NULL,NULL,NULL,NULL),(136162,'Experimental MF/BP Leaf Term GOA',NULL,4892,NULL,'GO:0042500|F:aspartic endopeptidase activity, intramembrane cleaving|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136163,'Experimental MF/BP Leaf Term GOA',NULL,4899,NULL,'GO:0007283|P:spermatogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(136164,'Experimental MF/BP Leaf Term GOA',NULL,4904,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:1900364|P:negative regulation of mRNA polyadenylation|IMP; GO:0006368|P:transcription elongation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(136165,'Experimental MF/BP Leaf Term GOA',NULL,4915,NULL,'GO:0004777|F:succinate-semialdehyde dehydrogenase (NAD+) activity|IDA; GO:0007417|P:central nervous system development|IMP; GO:0009450|P:gamma-aminobutyric acid catabolic process|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(136166,'Experimental MF/BP Leaf Term GOA',NULL,4922,NULL,'GO:0035035|F:histone acetyltransferase binding|IPI; GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0000979|F:RNA polymerase II core promoter sequence-specific DNA binding|IDA; GO:0000983|F:transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding|IDA; GO:0005164|F:tumor necrosis factor receptor binding|IPI; GO:0035458|P:cellular response to interferon-beta|IMP; GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0060333|P:interferon-gamma-mediated signaling pathway|IDA; GO:0007259|P:JAK-STAT cascade|IDA; GO:0010742|P:macrophage derived foam cell differentiation|IDA; GO:0046725|P:negative regulation by virus of viral protein levels in host cell|IMP; GO:0002230|P:positive regulation of defense response to virus by host|IMP; GO:0060337|P:type I interferon signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136167,'Experimental MF/BP Leaf Term GOA',NULL,4924,NULL,'GO:0060337|P:type I interferon signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136168,'Experimental MF/BP Leaf Term GOA',NULL,4925,NULL,'GO:0035988|P:chondrocyte proliferation|IDA; GO:0001886|P:endothelial cell morphogenesis|IDA; GO:0003421|P:growth plate cartilage axis specification|IDA; GO:1903403|P:negative regulation of renal phosphate excretion|IDA',NULL,NULL,NULL,NULL,NULL),(136169,'Experimental MF/BP Leaf Term GOA',NULL,4926,NULL,'GO:0097110|F:scaffold protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(136170,'Experimental MF/BP Leaf Term GOA',NULL,4929,NULL,'GO:0008198|F:ferrous iron binding|IDA; GO:0034986|F:iron chaperone activity|IDA; GO:1990459|F:transferrin receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(136171,'Experimental MF/BP Leaf Term GOA',NULL,4933,NULL,'GO:0001893|P:maternal placenta development|IEP',NULL,NULL,NULL,NULL,NULL),(136172,'Experimental MF/BP Leaf Term GOA',NULL,4936,NULL,'GO:0090073|P:positive regulation of protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(136173,'Experimental MF/BP Leaf Term GOA',NULL,4938,NULL,'GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136174,'Experimental MF/BP Leaf Term GOA',NULL,4941,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(136175,'Experimental MF/BP Leaf Term GOA',NULL,4944,NULL,'GO:0034314|P:Arp2/3 complex-mediated actin nucleation|IDA; GO:0072643|P:interferon-gamma secretion|IMP; GO:1900041|P:negative regulation of interleukin-2 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(136176,'Experimental MF/BP Leaf Term GOA',NULL,4947,NULL,'GO:0019869|F:chloride channel inhibitor activity|IDA; GO:1902685|P:positive regulation of receptor localization to synapse|IMP',NULL,NULL,NULL,NULL,NULL),(136177,'Experimental MF/BP Leaf Term GOA',NULL,4948,NULL,'GO:0019869|F:chloride channel inhibitor activity|IDA; GO:0045022|P:early endosome to late endosome transport|IDA',NULL,NULL,NULL,NULL,NULL),(136178,'Experimental MF/BP Leaf Term GOA',NULL,4949,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0005164|F:tumor necrosis factor receptor binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0070842|P:aggresome assembly|IDA; GO:0036353|P:histone H2A-K119 monoubiquitination|IDA; GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136179,'Experimental MF/BP Leaf Term GOA',NULL,4959,NULL,'GO:1903135|F:cupric ion binding|IDA; GO:0120147|F:Formylglycine-generating oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136180,'Experimental MF/BP Leaf Term GOA',NULL,4960,NULL,'GO:0005521|F:lamin binding|IDA; GO:0090286|P:cytoskeletal anchoring at nuclear membrane|IDA; GO:0090292|P:nuclear matrix anchoring at nuclear membrane|IDA',NULL,NULL,NULL,NULL,NULL),(136181,'Experimental MF/BP Leaf Term GOA',NULL,4967,NULL,'GO:0051117|F:ATPase binding|IPI; GO:1903070|P:negative regulation of ER-associated ubiquitin-dependent protein catabolic process|IMP; GO:1904153|P:negative regulation of retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(136182,'Experimental MF/BP Leaf Term GOA',NULL,4971,NULL,'GO:0071277|P:cellular response to calcium ion|IMP; GO:0070301|P:cellular response to hydrogen peroxide|IDA',NULL,NULL,NULL,NULL,NULL),(136183,'Experimental MF/BP Leaf Term GOA',NULL,4973,NULL,'GO:0086045|P:membrane depolarization during AV node cell action potential|IMP; GO:0086048|P:membrane depolarization during bundle of His cell action potential|IMP; GO:0086047|P:membrane depolarization during Purkinje myocyte cell action potential|IMP; GO:0051289|P:protein homotetramerization|IDA; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0098719|P:sodium ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(136184,'Experimental MF/BP Leaf Term GOA',NULL,4976,NULL,'GO:0070266|P:necroptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(136185,'Experimental MF/BP Leaf Term GOA',NULL,4977,NULL,'GO:1901165|P:positive regulation of trophoblast cell migration|IMP',NULL,NULL,NULL,NULL,NULL),(136186,'Experimental MF/BP Leaf Term GOA',NULL,4979,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136187,'Experimental MF/BP Leaf Term GOA',NULL,4980,NULL,'GO:0030676|F:Rac guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136188,'Experimental MF/BP Leaf Term GOA',NULL,4984,NULL,'GO:0030506|F:ankyrin binding|IPI',NULL,NULL,NULL,NULL,NULL),(136189,'Experimental MF/BP Leaf Term GOA',NULL,4986,NULL,'GO:0004758|F:serine C-palmitoyltransferase activity|IDA; GO:1904504|P:positive regulation of lipophagy|IDA',NULL,NULL,NULL,NULL,NULL),(136190,'Experimental MF/BP Leaf Term GOA',NULL,4987,NULL,'GO:0004758|F:serine C-palmitoyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136191,'Experimental MF/BP Leaf Term GOA',NULL,4990,NULL,'GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(136192,'Experimental MF/BP Leaf Term GOA',NULL,4993,NULL,'GO:0004994|F:somatostatin receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136193,'Experimental MF/BP Leaf Term GOA',NULL,4995,NULL,'GO:0062061|F:TAP complex binding|IDA; GO:0046978|F:TAP1 binding|IPI; GO:0046979|F:TAP2 binding|IPI; GO:0061635|P:regulation of protein complex stability|IDA',NULL,NULL,NULL,NULL,NULL),(136194,'Experimental MF/BP Leaf Term GOA',NULL,4996,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0008476|F:protein-tyrosine sulfotransferase activity|IDA; GO:0006478|P:peptidyl-tyrosine sulfation|IDA',NULL,NULL,NULL,NULL,NULL),(136195,'Experimental MF/BP Leaf Term GOA',NULL,5001,NULL,'GO:0032964|P:collagen biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(136196,'Experimental MF/BP Leaf Term GOA',NULL,5002,NULL,'GO:0009386|P:translational attenuation|IMP',NULL,NULL,NULL,NULL,NULL),(136197,'Experimental MF/BP Leaf Term GOA',NULL,5003,NULL,'GO:0001920|P:negative regulation of receptor recycling|IDA; GO:0050862|P:positive regulation of T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136198,'Experimental MF/BP Leaf Term GOA',NULL,5004,NULL,'GO:0008420|F:RNA polymerase II CTD heptapeptide repeat phosphatase activity|IDA; GO:0070940|P:dephosphorylation of RNA polymerase II C-terminal domain|IDA',NULL,NULL,NULL,NULL,NULL),(136199,'Experimental MF/BP Leaf Term GOA',NULL,5008,NULL,'GO:0047685|F:amine sulfotransferase activity|IDA; GO:0004062|F:aryl sulfotransferase activity|IMP; GO:0043199|F:sulfate binding|IDA; GO:1903351|P:cellular response to dopamine|IMP; GO:0042420|P:dopamine catabolic process|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IDA; GO:0006068|P:ethanol catabolic process|IDA; GO:0098989|P:NMDA selective glutamate receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136200,'Experimental MF/BP Leaf Term GOA',NULL,5015,NULL,'GO:0070498|P:interleukin-1-mediated signaling pathway|IMP; GO:0070102|P:interleukin-6-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136201,'Experimental MF/BP Leaf Term GOA',NULL,5016,NULL,'GO:0047704|F:bile-salt sulfotransferase activity|IDA; GO:0050294|F:steroid sulfotransferase activity|IDA; GO:0006068|P:ethanol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136202,'Experimental MF/BP Leaf Term GOA',NULL,5017,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0050294|F:steroid sulfotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136203,'Experimental MF/BP Leaf Term GOA',NULL,5019,NULL,'GO:0060397|P:JAK-STAT cascade involved in growth hormone signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136204,'Experimental MF/BP Leaf Term GOA',NULL,5020,NULL,'GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136205,'Experimental MF/BP Leaf Term GOA',NULL,5022,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0014067|P:negative regulation of phosphatidylinositol 3-kinase signaling|IMP',NULL,NULL,NULL,NULL,NULL),(136206,'Experimental MF/BP Leaf Term GOA',NULL,5023,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0070859|P:positive regulation of bile acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136207,'Experimental MF/BP Leaf Term GOA',NULL,5024,NULL,'GO:2001069|F:glycogen binding|IDA; GO:0061723|P:glycophagy|IMP',NULL,NULL,NULL,NULL,NULL),(136208,'Experimental MF/BP Leaf Term GOA',NULL,5025,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0099044|P:vesicle tethering to endoplasmic reticulum|IDA',NULL,NULL,NULL,NULL,NULL),(136209,'Experimental MF/BP Leaf Term GOA',NULL,5026,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0070508|P:cholesterol import|IDA; GO:0010879|P:cholesterol transport involved in cholesterol storage|IDA; GO:0070859|P:positive regulation of bile acid biosynthetic process|IDA; GO:0010873|P:positive regulation of cholesterol esterification|IDA',NULL,NULL,NULL,NULL,NULL),(136210,'Experimental MF/BP Leaf Term GOA',NULL,5029,NULL,'GO:0051298|P:centrosome duplication|IDA',NULL,NULL,NULL,NULL,NULL),(136211,'Experimental MF/BP Leaf Term GOA',NULL,5030,NULL,'GO:0051010|F:microtubule plus-end binding|IDA; GO:0032237|P:activation of store-operated calcium channel activity|IDA; GO:0005513|P:detection of calcium ion|IDA; GO:0070166|P:enamel mineralization|IMP; GO:0002115|P:store-operated calcium entry|IDA',NULL,NULL,NULL,NULL,NULL),(136212,'Experimental MF/BP Leaf Term GOA',NULL,5031,NULL,'GO:0015279|F:store-operated calcium channel activity|IDA; GO:0032237|P:activation of store-operated calcium channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(136213,'Experimental MF/BP Leaf Term GOA',NULL,5033,NULL,'GO:1990869|P:cellular response to chemokine|IMP; GO:1905408|P:negative regulation of creatine transmembrane transporter activity|IDA; GO:0010820|P:positive regulation of T cell chemotaxis|IMP; GO:0023016|P:signal transduction by trans-phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(136214,'Experimental MF/BP Leaf Term GOA',NULL,5034,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0035329|P:hippo signaling|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136215,'Experimental MF/BP Leaf Term GOA',NULL,5036,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0002039|F:p53 binding|IDA; GO:0043276|P:anoikis|IMP; GO:0071493|P:cellular response to UV-B|IDA; GO:1904262|P:negative regulation of TORC1 signaling|IMP; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136216,'Experimental MF/BP Leaf Term GOA',NULL,5038,NULL,'GO:0030317|P:flagellated sperm motility|IMP; GO:0007286|P:spermatid development|IDA; GO:0007290|P:spermatid nucleus elongation|IMP',NULL,NULL,NULL,NULL,NULL),(136217,'Experimental MF/BP Leaf Term GOA',NULL,5043,NULL,'GO:0043539|F:protein serine/threonine kinase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(136218,'Experimental MF/BP Leaf Term GOA',NULL,5046,NULL,'GO:0006809|P:nitric oxide biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136219,'Experimental MF/BP Leaf Term GOA',NULL,5055,NULL,'GO:0030165|F:PDZ domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(136220,'Experimental MF/BP Leaf Term GOA',NULL,5058,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0008476|F:protein-tyrosine sulfotransferase activity|IDA; GO:0006478|P:peptidyl-tyrosine sulfation|IDA',NULL,NULL,NULL,NULL,NULL),(136221,'Experimental MF/BP Leaf Term GOA',NULL,5064,NULL,'GO:0046966|F:thyroid hormone receptor binding|IDA; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IMP; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(136222,'Experimental MF/BP Leaf Term GOA',NULL,5072,NULL,'GO:0061953|F:mRNA (adenine-N1-)-methyltransferase activity|IDA; GO:0070901|P:mitochondrial tRNA methylation|IDA',NULL,NULL,NULL,NULL,NULL),(136223,'Experimental MF/BP Leaf Term GOA',NULL,5077,NULL,'GO:0031996|F:thioesterase binding|IPI; GO:0005164|F:tumor necrosis factor receptor binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136224,'Experimental MF/BP Leaf Term GOA',NULL,5078,NULL,'GO:0031996|F:thioesterase binding|IPI; GO:0005164|F:tumor necrosis factor receptor binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0050699|F:WW domain binding|IPI; GO:0090073|P:positive regulation of protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136225,'Experimental MF/BP Leaf Term GOA',NULL,5079,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0031435|F:mitogen-activated protein kinase kinase kinase binding|IPI; GO:0043422|F:protein kinase B binding|IPI; GO:0031996|F:thioesterase binding|IPI; GO:0005164|F:tumor necrosis factor receptor binding|IPI; GO:0031624|F:ubiquitin conjugating enzyme binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0007250|P:activation of NF-kappaB-inducing kinase activity|IMP; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0051865|P:protein autoubiquitination|IDA; GO:0050852|P:T cell receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136226,'Experimental MF/BP Leaf Term GOA',NULL,5081,NULL,'GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136227,'Experimental MF/BP Leaf Term GOA',NULL,5087,NULL,'GO:0004062|F:aryl sulfotransferase activity|IDA; GO:0047894|F:flavonol 3-sulfotransferase activity|IDA; GO:0006068|P:ethanol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136228,'Experimental MF/BP Leaf Term GOA',NULL,5088,NULL,'GO:0004062|F:aryl sulfotransferase activity|IDA; GO:0006068|P:ethanol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136229,'Experimental MF/BP Leaf Term GOA',NULL,5089,NULL,'GO:0016428|F:tRNA (cytosine-5-)-methyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(136230,'Experimental MF/BP Leaf Term GOA',NULL,5090,NULL,'GO:0060047|P:heart contraction|IMP',NULL,NULL,NULL,NULL,NULL),(136231,'Experimental MF/BP Leaf Term GOA',NULL,5091,NULL,'GO:0047894|F:flavonol 3-sulfotransferase activity|IDA; GO:0050294|F:steroid sulfotransferase activity|IDA; GO:0006711|P:estrogen catabolic process|IDA; GO:0006068|P:ethanol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136232,'Experimental MF/BP Leaf Term GOA',NULL,5092,NULL,'GO:0005524|F:ATP binding|IDA; GO:2000271|P:positive regulation of fibroblast apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(136233,'Experimental MF/BP Leaf Term GOA',NULL,5095,NULL,'GO:0004555|F:alpha,alpha-trehalase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136234,'Experimental MF/BP Leaf Term GOA',NULL,5100,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IMP',NULL,NULL,NULL,NULL,NULL),(136235,'Experimental MF/BP Leaf Term GOA',NULL,5102,NULL,'GO:0043515|F:kinetochore binding|IDA; GO:0007080|P:mitotic metaphase plate congression|IMP',NULL,NULL,NULL,NULL,NULL),(136236,'Experimental MF/BP Leaf Term GOA',NULL,5103,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(136237,'Experimental MF/BP Leaf Term GOA',NULL,5108,NULL,'GO:0038036|F:sphingosine-1-phosphate receptor activity|IMP; GO:0046512|P:sphingosine biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(136238,'Experimental MF/BP Leaf Term GOA',NULL,5110,NULL,'GO:0000338|P:protein deneddylation|IMP',NULL,NULL,NULL,NULL,NULL),(136239,'Experimental MF/BP Leaf Term GOA',NULL,5121,NULL,'GO:0004809|F:tRNA (guanine-N2-)-methyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(136240,'Experimental MF/BP Leaf Term GOA',NULL,5123,NULL,'GO:0004809|F:tRNA (guanine-N2-)-methyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(136241,'Experimental MF/BP Leaf Term GOA',NULL,5125,NULL,'GO:0032611|P:interleukin-1 beta production|IMP',NULL,NULL,NULL,NULL,NULL),(136242,'Experimental MF/BP Leaf Term GOA',NULL,5126,NULL,'GO:0070901|P:mitochondrial tRNA methylation|IMP',NULL,NULL,NULL,NULL,NULL),(136243,'Experimental MF/BP Leaf Term GOA',NULL,5129,NULL,'GO:0004065|F:arylsulfatase activity|IDA; GO:0008449|F:N-acetylglucosamine-6-sulfatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136244,'Experimental MF/BP Leaf Term GOA',NULL,5130,NULL,'GO:0004065|F:arylsulfatase activity|IDA; GO:0008449|F:N-acetylglucosamine-6-sulfatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136245,'Experimental MF/BP Leaf Term GOA',NULL,5132,NULL,'GO:0090286|P:cytoskeletal anchoring at nuclear membrane|IDA; GO:0090292|P:nuclear matrix anchoring at nuclear membrane|IDA',NULL,NULL,NULL,NULL,NULL),(136246,'Experimental MF/BP Leaf Term GOA',NULL,5140,NULL,'GO:1902173|P:negative regulation of keratinocyte apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(136247,'Experimental MF/BP Leaf Term GOA',NULL,5147,NULL,'GO:0042500|F:aspartic endopeptidase activity, intramembrane cleaving|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0070886|P:positive regulation of calcineurin-NFAT signaling cascade|IMP; GO:0050852|P:T cell receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136248,'Experimental MF/BP Leaf Term GOA',NULL,5151,NULL,'GO:0004758|F:serine C-palmitoyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136249,'Experimental MF/BP Leaf Term GOA',NULL,5154,NULL,'GO:0004758|F:serine C-palmitoyltransferase activity|IDA; GO:1904504|P:positive regulation of lipophagy|IDA',NULL,NULL,NULL,NULL,NULL),(136250,'Experimental MF/BP Leaf Term GOA',NULL,5159,NULL,'GO:0097110|F:scaffold protein binding|IPI; GO:0002588|P:positive regulation of antigen processing and presentation of peptide antigen via MHC class II|IDA; GO:1903082|P:positive regulation of C-C chemokine receptor CCR7 signaling pathway|IDA; GO:2000350|P:positive regulation of CD40 signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136251,'Experimental MF/BP Leaf Term GOA',NULL,5161,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0035771|P:interleukin-4-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136252,'Experimental MF/BP Leaf Term GOA',NULL,5162,NULL,'GO:0097194|P:execution phase of apoptosis|IMP',NULL,NULL,NULL,NULL,NULL),(136253,'Experimental MF/BP Leaf Term GOA',NULL,5165,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0031435|F:mitogen-activated protein kinase kinase kinase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136254,'Experimental MF/BP Leaf Term GOA',NULL,5166,NULL,'GO:0031117|P:positive regulation of microtubule depolymerization|IDA',NULL,NULL,NULL,NULL,NULL),(136255,'Experimental MF/BP Leaf Term GOA',NULL,5169,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0035329|P:hippo signaling|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(136256,'Experimental MF/BP Leaf Term GOA',NULL,5175,NULL,'GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136257,'Experimental MF/BP Leaf Term GOA',NULL,5181,NULL,'GO:0005524|F:ATP binding|IDA; GO:0004817|F:cysteine-tRNA ligase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136258,'Experimental MF/BP Leaf Term GOA',NULL,5193,NULL,'GO:1900748|P:positive regulation of vascular endothelial growth factor signaling pathway|IDA; GO:0035470|P:positive regulation of vascular wound healing|IDA',NULL,NULL,NULL,NULL,NULL),(136259,'Experimental MF/BP Leaf Term GOA',NULL,5195,NULL,'GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IMP',NULL,NULL,NULL,NULL,NULL),(136260,'Experimental MF/BP Leaf Term GOA',NULL,5197,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(136261,'Experimental MF/BP Leaf Term GOA',NULL,5198,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA; GO:0042270|P:protection from natural killer cell mediated cytotoxicity|IMP',NULL,NULL,NULL,NULL,NULL),(136262,'Experimental MF/BP Leaf Term GOA',NULL,5203,NULL,'GO:0071333|P:cellular response to glucose stimulus|IMP; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(136263,'Experimental MF/BP Leaf Term GOA',NULL,5206,NULL,'GO:0031996|F:thioesterase binding|IPI; GO:0005164|F:tumor necrosis factor receptor binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136264,'Experimental MF/BP Leaf Term GOA',NULL,5207,NULL,'GO:0031996|F:thioesterase binding|IPI; GO:0005164|F:tumor necrosis factor receptor binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0007250|P:activation of NF-kappaB-inducing kinase activity|IMP; GO:0090073|P:positive regulation of protein homodimerization activity|IMP; GO:0051865|P:protein autoubiquitination|IDA; GO:0070207|P:protein homotrimerization|IPI',NULL,NULL,NULL,NULL,NULL),(136265,'Experimental MF/BP Leaf Term GOA',NULL,5208,NULL,'GO:0031996|F:thioesterase binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136266,'Experimental MF/BP Leaf Term GOA',NULL,5212,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0035197|F:siRNA binding|IDA; GO:0035280|P:miRNA loading onto RISC involved in gene silencing by miRNA|IDA; GO:0050689|P:negative regulation of defense response to virus by host|IDA; GO:0031054|P:pre-miRNA processing|IDA; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IDA; GO:0035087|P:siRNA loading onto RISC involved in RNA interference|IDA; GO:0030423|P:targeting of mRNA for destruction involved in RNA interference|IMP',NULL,NULL,NULL,NULL,NULL),(136267,'Experimental MF/BP Leaf Term GOA',NULL,5213,NULL,'GO:0035093|P:spermatogenesis, exchange of chromosomal proteins|IMP',NULL,NULL,NULL,NULL,NULL),(136268,'Experimental MF/BP Leaf Term GOA',NULL,5218,NULL,'GO:1904288|F:BAT3 complex binding|IDA; GO:0051087|F:chaperone binding|IPI; GO:0070628|F:proteasome binding|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1904454|F:ubiquitin-specific protease activity involved in positive regulation of ERAD pathway|IMP; GO:1904378|P:maintenance of unfolded protein involved in ERAD pathway|IMP; GO:0035523|P:protein K29-linked deubiquitination|IDA; GO:0044313|P:protein K6-linked deubiquitination|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(136269,'Experimental MF/BP Leaf Term GOA',NULL,5219,NULL,'GO:0070628|F:proteasome binding|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:1903070|P:negative regulation of ER-associated ubiquitin-dependent protein catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(136270,'Experimental MF/BP Leaf Term GOA',NULL,5221,NULL,'GO:0004438|F:phosphatidylinositol-3-phosphatase activity|IDA; GO:0004439|F:phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|IDA; GO:0043812|F:phosphatidylinositol-4-phosphate phosphatase activity|IDA; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(136271,'Experimental MF/BP Leaf Term GOA',NULL,5222,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136272,'Experimental MF/BP Leaf Term GOA',NULL,5224,NULL,'GO:0019784|F:NEDD8-specific protease activity|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136273,'Experimental MF/BP Leaf Term GOA',NULL,5228,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0035871|P:protein K11-linked deubiquitination|IDA; GO:0044313|P:protein K6-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136274,'Experimental MF/BP Leaf Term GOA',NULL,5229,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IDA; GO:0035871|P:protein K11-linked deubiquitination|IDA; GO:0071108|P:protein K48-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136275,'Experimental MF/BP Leaf Term GOA',NULL,5230,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IMP',NULL,NULL,NULL,NULL,NULL),(136276,'Experimental MF/BP Leaf Term GOA',NULL,5232,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0071108|P:protein K48-linked deubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(136277,'Experimental MF/BP Leaf Term GOA',NULL,5233,NULL,'GO:1990380|F:Lys48-specific deubiquitinase activity|IDA; GO:0002039|F:p53 binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0010216|P:maintenance of DNA methylation|IMP; GO:1901537|P:positive regulation of DNA demethylation|IDA; GO:0050821|P:protein stabilization|IDA; GO:0006283|P:transcription-coupled nucleotide-excision repair|IMP',NULL,NULL,NULL,NULL,NULL),(136278,'Experimental MF/BP Leaf Term GOA',NULL,5234,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0071108|P:protein K48-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136279,'Experimental MF/BP Leaf Term GOA',NULL,5236,NULL,'GO:0004815|F:aspartate-tRNA ligase activity|IDA; GO:0050560|F:aspartate-tRNA(Asn) ligase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0070145|P:mitochondrial asparaginyl-tRNA aminoacylation|IDA',NULL,NULL,NULL,NULL,NULL),(136280,'Experimental MF/BP Leaf Term GOA',NULL,5237,NULL,'GO:0006283|P:transcription-coupled nucleotide-excision repair|IDA',NULL,NULL,NULL,NULL,NULL),(136281,'Experimental MF/BP Leaf Term GOA',NULL,5240,NULL,'GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA',NULL,NULL,NULL,NULL,NULL),(136282,'Experimental MF/BP Leaf Term GOA',NULL,5241,NULL,'GO:0004826|F:phenylalanine-tRNA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136283,'Experimental MF/BP Leaf Term GOA',NULL,5242,NULL,'GO:0004823|F:leucine-tRNA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136284,'Experimental MF/BP Leaf Term GOA',NULL,5243,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0071816|P:tail-anchored membrane protein insertion into ER membrane|IDA',NULL,NULL,NULL,NULL,NULL),(136285,'Experimental MF/BP Leaf Term GOA',NULL,5245,NULL,'GO:0004825|F:methionine-tRNA ligase activity|IDA; GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA; GO:0032869|P:cellular response to insulin stimulus|IDA; GO:0036120|P:cellular response to platelet-derived growth factor stimulus|IDA; GO:1901838|P:positive regulation of transcription of nucleolar large rRNA by RNA polymerase I|IMP',NULL,NULL,NULL,NULL,NULL),(136286,'Experimental MF/BP Leaf Term GOA',NULL,5246,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136287,'Experimental MF/BP Leaf Term GOA',NULL,5247,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136288,'Experimental MF/BP Leaf Term GOA',NULL,5248,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0061649|F:ubiquitin modification-dependent histone binding|IDA; GO:0035616|P:histone H2B conserved C-terminal lysine deubiquitination|IDA; GO:0060389|P:pathway-restricted SMAD protein phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(136289,'Experimental MF/BP Leaf Term GOA',NULL,5249,NULL,'GO:0008307|F:structural constituent of muscle|IDA; GO:0017166|F:vinculin binding|IDA',NULL,NULL,NULL,NULL,NULL),(136290,'Experimental MF/BP Leaf Term GOA',NULL,5251,NULL,'GO:0098886|P:modification of dendritic spine|IDA',NULL,NULL,NULL,NULL,NULL),(136291,'Experimental MF/BP Leaf Term GOA',NULL,5252,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136292,'Experimental MF/BP Leaf Term GOA',NULL,5254,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IMP; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071108|P:protein K48-linked deubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(136293,'Experimental MF/BP Leaf Term GOA',NULL,5256,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IDA',NULL,NULL,NULL,NULL,NULL),(136294,'Experimental MF/BP Leaf Term GOA',NULL,5257,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136295,'Experimental MF/BP Leaf Term GOA',NULL,5258,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136296,'Experimental MF/BP Leaf Term GOA',NULL,5259,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136297,'Experimental MF/BP Leaf Term GOA',NULL,5260,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136298,'Experimental MF/BP Leaf Term GOA',NULL,5261,NULL,'GO:1900186|P:negative regulation of clathrin-dependent endocytosis|IMP; GO:1904021|P:negative regulation of G protein-coupled receptor internalization|IMP; GO:1903071|P:positive regulation of ER-associated ubiquitin-dependent protein catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(136299,'Experimental MF/BP Leaf Term GOA',NULL,5264,NULL,'GO:0047134|F:protein-disulfide reductase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136300,'Experimental MF/BP Leaf Term GOA',NULL,5266,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0060335|P:positive regulation of interferon-gamma-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136301,'Experimental MF/BP Leaf Term GOA',NULL,5268,NULL,'GO:0007283|P:spermatogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(136302,'Experimental MF/BP Leaf Term GOA',NULL,5271,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0071586|P:CAAX-box protein processing|IMP; GO:0034260|P:negative regulation of GTPase activity|IDA; GO:1900245|P:positive regulation of MDA-5 signaling pathway|IMP; GO:1900246|P:positive regulation of RIG-I signaling pathway|IMP; GO:0071108|P:protein K48-linked deubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(136303,'Experimental MF/BP Leaf Term GOA',NULL,5275,NULL,'GO:0071535|F:RING-like zinc finger domain binding|IPI; GO:0061656|F:SUMO conjugating enzyme activity|IDA; GO:1903755|P:positive regulation of SUMO transferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136304,'Experimental MF/BP Leaf Term GOA',NULL,5276,NULL,'GO:0009234|P:menaquinone biosynthetic process|IMP; GO:0042371|P:vitamin K biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136305,'Experimental MF/BP Leaf Term GOA',NULL,5279,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA',NULL,NULL,NULL,NULL,NULL),(136306,'Experimental MF/BP Leaf Term GOA',NULL,5280,NULL,'GO:0007399|P:nervous system development|IMP',NULL,NULL,NULL,NULL,NULL),(136307,'Experimental MF/BP Leaf Term GOA',NULL,5281,NULL,'GO:0017166|F:vinculin binding|IPI',NULL,NULL,NULL,NULL,NULL),(136308,'Experimental MF/BP Leaf Term GOA',NULL,5283,NULL,'GO:0007098|P:centrosome cycle|IMP; GO:0097680|P:double-strand break repair via classical nonhomologous end joining|IDA; GO:0051684|P:maintenance of Golgi location|IMP',NULL,NULL,NULL,NULL,NULL),(136309,'Experimental MF/BP Leaf Term GOA',NULL,5287,NULL,'GO:0032399|F:HECT domain binding|IPI; GO:0007283|P:spermatogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136310,'Experimental MF/BP Leaf Term GOA',NULL,5288,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0035871|P:protein K11-linked deubiquitination|IDA; GO:0071108|P:protein K48-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136311,'Experimental MF/BP Leaf Term GOA',NULL,5289,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(136312,'Experimental MF/BP Leaf Term GOA',NULL,5290,NULL,'GO:1902098|F:calcitriol binding|IDA; GO:0008434|F:calcitriol receptor activity|IDA; GO:1902121|F:lithocholic acid binding|IDA; GO:0038186|F:lithocholic acid receptor activity|IDA; GO:0046965|F:retinoid X receptor binding|IDA; GO:0046697|P:decidualization|IEP; GO:0010839|P:negative regulation of keratinocyte proliferation|IMP; GO:0010980|P:positive regulation of vitamin D 24-hydroxylase activity|IDA; GO:0070561|P:vitamin D receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136313,'Experimental MF/BP Leaf Term GOA',NULL,5291,NULL,'GO:0043183|F:vascular endothelial growth factor receptor 1 binding|IPI; GO:0050930|P:induction of positive chemotaxis|IDA; GO:0060754|P:positive regulation of mast cell chemotaxis|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:0030949|P:positive regulation of vascular endothelial growth factor receptor signaling pathway|IDA; GO:0035470|P:positive regulation of vascular wound healing|IDA',NULL,NULL,NULL,NULL,NULL),(136314,'Experimental MF/BP Leaf Term GOA',NULL,5294,NULL,'GO:0003785|F:actin monomer binding|IDA; GO:0007253|P:cytoplasmic sequestering of NF-kappaB|IMP; GO:2000483|P:negative regulation of interleukin-8 secretion|IDA; GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IMP; GO:1903026|P:negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding|IDA; GO:2001171|P:positive regulation of ATP biosynthetic process|IDA; GO:1905273|P:positive regulation of proton-transporting ATP synthase activity, rotational mechanism|IDA; GO:0042989|P:sequestering of actin monomers|IDA',NULL,NULL,NULL,NULL,NULL),(136315,'Experimental MF/BP Leaf Term GOA',NULL,5295,NULL,'GO:0005540|F:hyaluronic acid binding|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IMP; GO:0071947|P:protein deubiquitination involved in ubiquitin-dependent protein catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(136316,'Experimental MF/BP Leaf Term GOA',NULL,5298,NULL,'GO:0051461|P:positive regulation of corticotropin secretion|IDA',NULL,NULL,NULL,NULL,NULL),(136317,'Experimental MF/BP Leaf Term GOA',NULL,5299,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0070934|P:CRD-mediated mRNA stabilization|IMP; GO:1903608|P:protein localization to cytoplasmic stress granule|IMP',NULL,NULL,NULL,NULL,NULL),(136318,'Experimental MF/BP Leaf Term GOA',NULL,5300,NULL,'GO:0006283|P:transcription-coupled nucleotide-excision repair|IMP',NULL,NULL,NULL,NULL,NULL),(136319,'Experimental MF/BP Leaf Term GOA',NULL,5304,NULL,'GO:0035493|P:SNARE complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136320,'Experimental MF/BP Leaf Term GOA',NULL,5305,NULL,'GO:0043308|P:eosinophil degranulation|IMP; GO:0043320|P:natural killer cell degranulation|IMP; GO:0043312|P:neutrophil degranulation|IMP; GO:1903595|P:positive regulation of histamine secretion by mast cell|IMP',NULL,NULL,NULL,NULL,NULL),(136321,'Experimental MF/BP Leaf Term GOA',NULL,5310,NULL,'GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(136322,'Experimental MF/BP Leaf Term GOA',NULL,5316,NULL,'GO:0030628|F:pre-mRNA 3\'-splice site binding|IDA',NULL,NULL,NULL,NULL,NULL),(136323,'Experimental MF/BP Leaf Term GOA',NULL,5317,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0070979|P:protein K11-linked ubiquitination|IDA; GO:0044314|P:protein K27-linked ubiquitination|IDA; GO:0035519|P:protein K29-linked ubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA; GO:0085020|P:protein K6-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136324,'Experimental MF/BP Leaf Term GOA',NULL,5319,NULL,'GO:0030165|F:PDZ domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(136325,'Experimental MF/BP Leaf Term GOA',NULL,5321,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0000432|P:positive regulation of transcription from RNA polymerase II promoter by glucose|IMP',NULL,NULL,NULL,NULL,NULL),(136326,'Experimental MF/BP Leaf Term GOA',NULL,5329,NULL,'GO:0071356|P:cellular response to tumor necrosis factor|IMP',NULL,NULL,NULL,NULL,NULL),(136327,'Experimental MF/BP Leaf Term GOA',NULL,5333,NULL,'GO:0048487|F:beta-tubulin binding|IDA; GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(136328,'Experimental MF/BP Leaf Term GOA',NULL,5336,NULL,'GO:0034477|P:U6 snRNA 3\'-end processing|IMP',NULL,NULL,NULL,NULL,NULL),(136329,'Experimental MF/BP Leaf Term GOA',NULL,5342,NULL,'GO:2000234|P:positive regulation of rRNA processing|IMP',NULL,NULL,NULL,NULL,NULL),(136330,'Experimental MF/BP Leaf Term GOA',NULL,5343,NULL,'GO:0050431|F:transforming growth factor beta binding|IPI',NULL,NULL,NULL,NULL,NULL),(136331,'Experimental MF/BP Leaf Term GOA',NULL,5346,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136332,'Experimental MF/BP Leaf Term GOA',NULL,5354,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0032020|P:ISG15-protein conjugation|IDA; GO:0070979|P:protein K11-linked ubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136333,'Experimental MF/BP Leaf Term GOA',NULL,5355,NULL,'GO:1904153|P:negative regulation of retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(136334,'Experimental MF/BP Leaf Term GOA',NULL,5356,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136335,'Experimental MF/BP Leaf Term GOA',NULL,5357,NULL,'GO:0019782|F:ISG15 activating enzyme activity|IDA; GO:0032020|P:ISG15-protein conjugation|IDA',NULL,NULL,NULL,NULL,NULL),(136336,'Experimental MF/BP Leaf Term GOA',NULL,5358,NULL,'GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136337,'Experimental MF/BP Leaf Term GOA',NULL,5359,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA',NULL,NULL,NULL,NULL,NULL),(136338,'Experimental MF/BP Leaf Term GOA',NULL,5360,NULL,'GO:0015265|F:urea channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(136339,'Experimental MF/BP Leaf Term GOA',NULL,5362,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0036328|F:VEGF-C-activated receptor activity|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IDA; GO:0001946|P:lymphangiogenesis|IMP; GO:0090037|P:positive regulation of protein kinase C signaling|IMP; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IMP',NULL,NULL,NULL,NULL,NULL),(136340,'Experimental MF/BP Leaf Term GOA',NULL,5367,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0001784|F:phosphotyrosine residue binding|IPI',NULL,NULL,NULL,NULL,NULL),(136341,'Experimental MF/BP Leaf Term GOA',NULL,5370,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(136342,'Experimental MF/BP Leaf Term GOA',NULL,5376,NULL,'GO:0061428|P:negative regulation of transcription from RNA polymerase II promoter in response to hypoxia|IDA',NULL,NULL,NULL,NULL,NULL),(136343,'Experimental MF/BP Leaf Term GOA',NULL,5378,NULL,'GO:0045294|F:alpha-catenin binding|IPI; GO:0002162|F:dystroglycan binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0043297|P:apical junction assembly|IMP; GO:0034394|P:protein localization to cell surface|IMP',NULL,NULL,NULL,NULL,NULL),(136344,'Experimental MF/BP Leaf Term GOA',NULL,5382,NULL,'GO:0004791|F:thioredoxin-disulfide reductase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136345,'Experimental MF/BP Leaf Term GOA',NULL,5387,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0031591|P:wybutosine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136346,'Experimental MF/BP Leaf Term GOA',NULL,5389,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0032020|P:ISG15-protein conjugation|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136347,'Experimental MF/BP Leaf Term GOA',NULL,5390,NULL,'GO:0050847|P:progesterone receptor signaling pathway|IDA; GO:0051865|P:protein autoubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136348,'Experimental MF/BP Leaf Term GOA',NULL,5392,NULL,'GO:0034551|P:mitochondrial respiratory chain complex III assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136349,'Experimental MF/BP Leaf Term GOA',NULL,5393,NULL,'GO:0019864|F:IgG binding|IDA; GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IDA',NULL,NULL,NULL,NULL,NULL),(136350,'Experimental MF/BP Leaf Term GOA',NULL,5394,NULL,'GO:0033622|P:integrin activation|IDA; GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:0034446|P:substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(136351,'Experimental MF/BP Leaf Term GOA',NULL,5396,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IMP; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1904153|P:negative regulation of retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(136352,'Experimental MF/BP Leaf Term GOA',NULL,5397,NULL,'GO:0061654|F:NEDD8 conjugating enzyme activity|IDA; GO:0045116|P:protein neddylation|IDA',NULL,NULL,NULL,NULL,NULL),(136353,'Experimental MF/BP Leaf Term GOA',NULL,5398,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136354,'Experimental MF/BP Leaf Term GOA',NULL,5400,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051865|P:protein autoubiquitination|IDA; GO:0070979|P:protein K11-linked ubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136355,'Experimental MF/BP Leaf Term GOA',NULL,5404,NULL,'GO:0106035|P:protein maturation by [4Fe-4S] cluster transfer|IDA',NULL,NULL,NULL,NULL,NULL),(136356,'Experimental MF/BP Leaf Term GOA',NULL,5408,NULL,'GO:0042826|F:histone deacetylase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136357,'Experimental MF/BP Leaf Term GOA',NULL,5412,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0032869|P:cellular response to insulin stimulus|IDA; GO:0019086|P:late viral transcription|IDA; GO:0000432|P:positive regulation of transcription from RNA polymerase II promoter by glucose|IMP',NULL,NULL,NULL,NULL,NULL),(136358,'Experimental MF/BP Leaf Term GOA',NULL,5419,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0051865|P:protein autoubiquitination|IDA; GO:0070979|P:protein K11-linked ubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136359,'Experimental MF/BP Leaf Term GOA',NULL,5420,NULL,'GO:1901612|F:cardiolipin binding|IDA; GO:0070300|F:phosphatidic acid binding|IDA; GO:0042407|P:cristae formation|IMP; GO:0006122|P:mitochondrial electron transport, ubiquinol to cytochrome c|IMP; GO:0034551|P:mitochondrial respiratory chain complex III assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136360,'Experimental MF/BP Leaf Term GOA',NULL,5421,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0071480|P:cellular response to gamma radiation|IDA; GO:0060242|P:contact inhibition|IDA; GO:0033148|P:positive regulation of intracellular estrogen receptor signaling pathway|IDA; GO:0050847|P:progesterone receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136361,'Experimental MF/BP Leaf Term GOA',NULL,5424,NULL,'GO:0030507|F:spectrin binding|IDA; GO:1904970|P:brush border assembly|IMP; GO:0050957|P:equilibrioception|IMP; GO:0000086|P:G2/M transition of mitotic cell cycle|IMP; GO:0045494|P:photoreceptor cell maintenance|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(136362,'Experimental MF/BP Leaf Term GOA',NULL,5425,NULL,'GO:0008584|P:male gonad development|IEP',NULL,NULL,NULL,NULL,NULL),(136363,'Experimental MF/BP Leaf Term GOA',NULL,5426,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136364,'Experimental MF/BP Leaf Term GOA',NULL,5427,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0009032|F:thymidine phosphorylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136365,'Experimental MF/BP Leaf Term GOA',NULL,5428,NULL,'GO:0004511|F:tyrosine 3-monooxygenase activity|IDA; GO:0042418|P:epinephrine biosynthetic process|IDA; GO:0042421|P:norepinephrine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136366,'Experimental MF/BP Leaf Term GOA',NULL,5431,NULL,'GO:0005131|F:growth hormone receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(136367,'Experimental MF/BP Leaf Term GOA',NULL,5436,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0035458|P:cellular response to interferon-beta|IMP; GO:1904153|P:negative regulation of retrograde protein transport, ER to cytosol|IMP; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136368,'Experimental MF/BP Leaf Term GOA',NULL,5438,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0031145|P:anaphase-promoting complex-dependent catabolic process|IDA; GO:0010458|P:exit from mitosis|IMP; GO:0010994|P:free ubiquitin chain polymerization|IDA; GO:0031536|P:positive regulation of exit from mitosis|IMP; GO:0070979|P:protein K11-linked ubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136369,'Experimental MF/BP Leaf Term GOA',NULL,5441,NULL,'GO:1990481|P:mRNA pseudouridine synthesis|IDA',NULL,NULL,NULL,NULL,NULL),(136370,'Experimental MF/BP Leaf Term GOA',NULL,5444,NULL,'GO:1990825|F:sequence-specific mRNA binding|IDA; GO:0004799|F:thymidylate synthase activity|IDA; GO:0000900|F:translation repressor activity, mRNA regulatory element binding|IDA; GO:0035999|P:tetrahydrofolate interconversion|IDA',NULL,NULL,NULL,NULL,NULL),(136371,'Experimental MF/BP Leaf Term GOA',NULL,5448,NULL,'GO:0042953|P:lipoprotein transport|IDA',NULL,NULL,NULL,NULL,NULL),(136372,'Experimental MF/BP Leaf Term GOA',NULL,5450,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136373,'Experimental MF/BP Leaf Term GOA',NULL,5451,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136374,'Experimental MF/BP Leaf Term GOA',NULL,5453,NULL,'GO:0019780|F:FAT10 activating enzyme activity|IMP',NULL,NULL,NULL,NULL,NULL),(136375,'Experimental MF/BP Leaf Term GOA',NULL,5454,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(136376,'Experimental MF/BP Leaf Term GOA',NULL,5456,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0097202|P:activation of cysteine-type endopeptidase activity|IMP; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IDA; GO:0030224|P:monocyte differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(136377,'Experimental MF/BP Leaf Term GOA',NULL,5457,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:0070934|P:CRD-mediated mRNA stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(136378,'Experimental MF/BP Leaf Term GOA',NULL,5460,NULL,'GO:0004473|F:malate dehydrogenase (decarboxylating) (NADP+) activity|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0006108|P:malate metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136379,'Experimental MF/BP Leaf Term GOA',NULL,5463,NULL,'GO:0003743|F:translation initiation factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136380,'Experimental MF/BP Leaf Term GOA',NULL,5467,NULL,'GO:0071360|P:cellular response to exogenous dsRNA|IDA; GO:0071357|P:cellular response to type I interferon|IDA; GO:0019060|P:intracellular transport of viral protein in host cell|IDA; GO:0050689|P:negative regulation of defense response to virus by host|IDA',NULL,NULL,NULL,NULL,NULL),(136381,'Experimental MF/BP Leaf Term GOA',NULL,5468,NULL,'GO:0048487|F:beta-tubulin binding|IDA; GO:0035735|P:intraciliary transport involved in cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136382,'Experimental MF/BP Leaf Term GOA',NULL,5470,NULL,'GO:0050829|P:defense response to Gram-negative bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(136383,'Experimental MF/BP Leaf Term GOA',NULL,5471,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0035457|P:cellular response to interferon-alpha|IMP; GO:1902164|P:positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IDA; GO:0031648|P:protein destabilization|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136384,'Experimental MF/BP Leaf Term GOA',NULL,5472,NULL,'GO:0019862|F:IgA binding|IMP; GO:0042803|F:protein homodimerization activity|IDA; GO:0003094|P:glomerular filtration|IMP',NULL,NULL,NULL,NULL,NULL),(136385,'Experimental MF/BP Leaf Term GOA',NULL,5474,NULL,'GO:0071222|P:cellular response to lipopolysaccharide|IDA',NULL,NULL,NULL,NULL,NULL),(136386,'Experimental MF/BP Leaf Term GOA',NULL,5475,NULL,'GO:1903660|P:negative regulation of complement-dependent cytotoxicity|IMP; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(136387,'Experimental MF/BP Leaf Term GOA',NULL,5477,NULL,'GO:0005161|F:platelet-derived growth factor receptor binding|IPI; GO:0070498|P:interleukin-1-mediated signaling pathway|IDA; GO:2000556|P:positive regulation of T-helper 1 cell cytokine production|IDA',NULL,NULL,NULL,NULL,NULL),(136388,'Experimental MF/BP Leaf Term GOA',NULL,5484,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0043539|F:protein serine/threonine kinase activator activity|IDA; GO:0044548|F:S100 protein binding|IPI; GO:0071277|P:cellular response to calcium ion|IDA; GO:0071364|P:cellular response to epidermal growth factor stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(136389,'Experimental MF/BP Leaf Term GOA',NULL,5486,NULL,'GO:0047349|F:D-ribitol-5-phosphate cytidylyltransferase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0035269|P:protein O-linked mannosylation|IMP',NULL,NULL,NULL,NULL,NULL),(136390,'Experimental MF/BP Leaf Term GOA',NULL,5488,NULL,'GO:0046978|F:TAP1 binding|IPI; GO:0046979|F:TAP2 binding|IPI',NULL,NULL,NULL,NULL,NULL),(136391,'Experimental MF/BP Leaf Term GOA',NULL,5489,NULL,'GO:0051575|F:5\'-deoxyribose-5-phosphate lyase activity|IDA; GO:0003680|F:AT DNA binding|IDA; GO:0042975|F:peroxisome proliferator activated receptor binding|IDA; GO:0046965|F:retinoid X receptor binding|IDA; GO:0090402|P:oncogene-induced cell senescence|IDA; GO:2000774|P:positive regulation of cellular senescence|IMP; GO:0035986|P:senescence-associated heterochromatin focus assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136392,'Experimental MF/BP Leaf Term GOA',NULL,5491,NULL,'GO:1902715|P:positive regulation of interferon-gamma secretion|IMP',NULL,NULL,NULL,NULL,NULL),(136393,'Experimental MF/BP Leaf Term GOA',NULL,5492,NULL,'GO:0043163|P:cell envelope organization|IDA; GO:0061436|P:establishment of skin barrier|IEP',NULL,NULL,NULL,NULL,NULL),(136394,'Experimental MF/BP Leaf Term GOA',NULL,5496,NULL,'GO:0005524|F:ATP binding|IDA; GO:0055131|F:C3HC4-type RING finger domain binding|IPI; GO:0031249|F:denatured protein binding|IPI; GO:0097718|F:disordered domain specific binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:0044183|F:protein binding involved in protein folding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051082|F:unfolded protein binding|IDA; GO:0070370|P:cellular heat acclimation|IMP; GO:0051131|P:chaperone-mediated protein complex assembly|IDA; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IMP; GO:1901029|P:negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway|IDA; GO:1902380|P:positive regulation of endoribonuclease activity|IDA; GO:0070434|P:positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway|IMP; GO:1903265|P:positive regulation of tumor necrosis factor-mediated signaling pathway|IMP; GO:0042026|P:protein refolding|IDA; GO:0050821|P:protein stabilization|IDA; GO:1901673|P:regulation of mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136395,'Experimental MF/BP Leaf Term GOA',NULL,5497,NULL,'GO:0005524|F:ATP binding|IDA; GO:0097718|F:disordered domain specific binding|IPI; GO:0070182|F:DNA polymerase binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0097110|F:scaffold protein binding|IPI; GO:0048156|F:tau protein binding|IPI; GO:0030911|F:TPR domain binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051131|P:chaperone-mediated protein complex assembly|IDA; GO:1902949|P:positive regulation of tau-protein kinase activity|IDA; GO:0045040|P:protein import into mitochondrial outer membrane|IDA; GO:0050821|P:protein stabilization|IMP; GO:0007004|P:telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(136396,'Experimental MF/BP Leaf Term GOA',NULL,5501,NULL,'GO:0070410|F:co-SMAD binding|IPI; GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IGI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0003180|P:aortic valve morphogenesis|IMP; GO:0003290|P:atrial septum secundum morphogenesis|IMP; GO:0003197|P:endocardial cushion development|IMP; GO:0008584|P:male gonad development|IMP',NULL,NULL,NULL,NULL,NULL),(136397,'Experimental MF/BP Leaf Term GOA',NULL,5502,NULL,'GO:0045945|P:positive regulation of transcription by RNA polymerase III|IMP; GO:0042795|P:snRNA transcription by RNA polymerase II|IMP; GO:0042796|P:snRNA transcription by RNA polymerase III|IMP',NULL,NULL,NULL,NULL,NULL),(136398,'Experimental MF/BP Leaf Term GOA',NULL,5503,NULL,'GO:0045945|P:positive regulation of transcription by RNA polymerase III|IMP; GO:0042795|P:snRNA transcription by RNA polymerase II|IMP; GO:0042796|P:snRNA transcription by RNA polymerase III|IMP',NULL,NULL,NULL,NULL,NULL),(136399,'Experimental MF/BP Leaf Term GOA',NULL,5505,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(136400,'Experimental MF/BP Leaf Term GOA',NULL,5506,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136401,'Experimental MF/BP Leaf Term GOA',NULL,5510,NULL,'GO:0004045|F:aminoacyl-tRNA hydrolase activity|IDA; GO:0016150|F:translation release factor activity, codon nonspecific|IDA; GO:0070126|P:mitochondrial translational termination|IDA',NULL,NULL,NULL,NULL,NULL),(136402,'Experimental MF/BP Leaf Term GOA',NULL,5513,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(136403,'Experimental MF/BP Leaf Term GOA',NULL,5518,NULL,'GO:0005524|F:ATP binding|IDA; GO:0043559|F:insulin binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0010815|P:bradykinin catabolic process|IDA; GO:0008340|P:determination of adult lifespan|IDA; GO:1901143|P:insulin catabolic process|IDA; GO:1903715|P:regulation of aerobic respiration|IGI; GO:0010992|P:ubiquitin recycling|IDA',NULL,NULL,NULL,NULL,NULL),(136404,'Experimental MF/BP Leaf Term GOA',NULL,5522,NULL,'GO:0016520|F:growth hormone-releasing hormone receptor activity|IMP; GO:0040018|P:positive regulation of multicellular organism growth|IMP',NULL,NULL,NULL,NULL,NULL),(136405,'Experimental MF/BP Leaf Term GOA',NULL,5524,NULL,'GO:0047464|F:heparosan-N-sulfate-glucuronate 5-epimerase activity|IDA; GO:0015012|P:heparan sulfate proteoglycan biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136406,'Experimental MF/BP Leaf Term GOA',NULL,5526,NULL,'GO:0007283|P:spermatogenesis|IDA',NULL,NULL,NULL,NULL,NULL),(136407,'Experimental MF/BP Leaf Term GOA',NULL,5527,NULL,'GO:0004411|F:homogentisate 1,2-dioxygenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(136408,'Experimental MF/BP Leaf Term GOA',NULL,5530,NULL,'GO:0030881|F:beta-2-microglobulin binding|IDA; GO:0046703|F:natural killer cell lectin-like receptor binding|IPI; GO:0042605|F:peptide antigen binding|IDA; GO:0042608|F:T cell receptor binding|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002519|P:natural killer cell tolerance induction|IDA; GO:2000566|P:positive regulation of CD8-positive, alpha-beta T cell proliferation|IDA; GO:0051024|P:positive regulation of immunoglobulin secretion|IDA; GO:0042270|P:protection from natural killer cell mediated cytotoxicity|IDA',NULL,NULL,NULL,NULL,NULL),(136409,'Experimental MF/BP Leaf Term GOA',NULL,5532,NULL,'GO:0051575|F:5\'-deoxyribose-5-phosphate lyase activity|IDA; GO:0003680|F:AT DNA binding|IDA; GO:0070742|F:C2H2 zinc finger domain binding|IMP; GO:0035497|F:cAMP response element binding|IDA; GO:0004677|F:DNA-dependent protein kinase activity|IDA; GO:0035501|F:MH1 domain binding|IDA; GO:0035500|F:MH2 domain binding|IDA; GO:0031492|F:nucleosomal DNA binding|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0035988|P:chondrocyte proliferation|IDA; GO:0031052|P:chromosome breakage|IDA; GO:0035987|P:endodermal cell differentiation|IMP; GO:0035978|P:histone H2A-S139 phosphorylation|IDA; GO:0007095|P:mitotic G2 DNA damage checkpoint|IDA; GO:0043922|P:negative regulation by host of viral transcription|IDA; GO:2001033|P:negative regulation of double-strand break repair via nonhomologous end joining|IDA; GO:0045869|P:negative regulation of single stranded viral RNA replication via double stranded DNA intermediate|IDA; GO:0090402|P:oncogene-induced cell senescence|IDA; GO:2000685|P:positive regulation of cellular response to X-ray|IDA; GO:2000774|P:positive regulation of cellular senescence|IMP; GO:0035986|P:senescence-associated heterochromatin focus assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136410,'Experimental MF/BP Leaf Term GOA',NULL,5537,NULL,'GO:0070885|P:negative regulation of calcineurin-NFAT signaling cascade|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(136411,'Experimental MF/BP Leaf Term GOA',NULL,5545,NULL,'GO:0008327|F:methyl-CpG binding|IDA',NULL,NULL,NULL,NULL,NULL),(136412,'Experimental MF/BP Leaf Term GOA',NULL,5550,NULL,'GO:0042577|F:lipid phosphatase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0015643|F:toxic substance binding|IDA; GO:0042632|P:cholesterol homeostasis|IDA; GO:0046272|P:stilbene catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136413,'Experimental MF/BP Leaf Term GOA',NULL,5552,NULL,'GO:0042008|F:interleukin-18 receptor activity|IDA; GO:0035655|P:interleukin-18-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136414,'Experimental MF/BP Leaf Term GOA',NULL,5555,NULL,'GO:0003940|F:L-iduronidase activity|IDA; GO:0030209|P:dermatan sulfate catabolic process|IDA; GO:0030211|P:heparin catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(136415,'Experimental MF/BP Leaf Term GOA',NULL,5556,NULL,'GO:0003743|F:translation initiation factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136416,'Experimental MF/BP Leaf Term GOA',NULL,5561,NULL,'GO:0007259|P:JAK-STAT cascade|IEP; GO:0030224|P:monocyte differentiation|IEP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IEP',NULL,NULL,NULL,NULL,NULL),(136417,'Experimental MF/BP Leaf Term GOA',NULL,5565,NULL,'GO:0071803|P:positive regulation of podosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136418,'Experimental MF/BP Leaf Term GOA',NULL,5567,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0030213|P:hyaluronan biosynthetic process|IDA; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IDA; GO:0070487|P:monocyte aggregation|IDA; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IDA; GO:0060559|P:positive regulation of calcidiol 1-monooxygenase activity|IDA; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IDA; GO:0045086|P:positive regulation of interleukin-2 biosynthetic process|IMP; GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IDA; GO:0071639|P:positive regulation of monocyte chemotactic protein-1 production|IDA; GO:0035505|P:positive regulation of myosin light chain kinase activity|IDA; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IDA; GO:2000556|P:positive regulation of T-helper 1 cell cytokine production|IDA; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IDA; GO:0043491|P:protein kinase B signaling|IMP; GO:0030730|P:sequestering of triglyceride|IDA',NULL,NULL,NULL,NULL,NULL),(136419,'Experimental MF/BP Leaf Term GOA',NULL,5569,NULL,'GO:0007229|P:integrin-mediated signaling pathway|IDA; GO:0034446|P:substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(136420,'Experimental MF/BP Leaf Term GOA',NULL,5570,NULL,'GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(136421,'Experimental MF/BP Leaf Term GOA',NULL,5571,NULL,'GO:0046854|P:phosphatidylinositol phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(136422,'Experimental MF/BP Leaf Term GOA',NULL,5577,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0007250|P:activation of NF-kappaB-inducing kinase activity|IDA; GO:0070498|P:interleukin-1-mediated signaling pathway|IMP; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IMP; GO:0060337|P:type I interferon signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136423,'Experimental MF/BP Leaf Term GOA',NULL,5579,NULL,'GO:0003743|F:translation initiation factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136424,'Experimental MF/BP Leaf Term GOA',NULL,5584,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0005158|F:insulin receptor binding|IPI; GO:0005159|F:insulin-like growth factor receptor binding|IMP; GO:0042104|P:positive regulation of activated T cell proliferation|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(136425,'Experimental MF/BP Leaf Term GOA',NULL,5589,NULL,'GO:0036435|F:K48-linked polyubiquitin modification-dependent protein binding|IMP; GO:0004704|F:NF-kappaB-inducing kinase activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136426,'Experimental MF/BP Leaf Term GOA',NULL,5592,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0097110|F:scaffold protein binding|IDA; GO:0071276|P:cellular response to cadmium ion|IMP; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IMP; GO:0038061|P:NIK/NF-kappaB signaling|IMP; GO:1902741|P:positive regulation of interferon-alpha secretion|IMP',NULL,NULL,NULL,NULL,NULL),(136427,'Experimental MF/BP Leaf Term GOA',NULL,5593,NULL,'GO:0035723|P:interleukin-15-mediated signaling pathway|IDA; GO:0007260|P:tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(136428,'Experimental MF/BP Leaf Term GOA',NULL,5596,NULL,'GO:0097718|F:disordered domain specific binding|IPI; GO:0061663|F:NEDD8 ligase activity|IMP; GO:0002039|F:p53 binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:1990000|P:amyloid fibril formation|IMP; GO:0072717|P:cellular response to actinomycin D|IDA; GO:0071480|P:cellular response to gamma radiation|IDA; GO:0071456|P:cellular response to hypoxia|IEP; GO:0006977|P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|IMP; GO:0071157|P:negative regulation of cell cycle arrest|IDA; GO:0051865|P:protein autoubiquitination|IMP; GO:0031648|P:protein destabilization|IDA',NULL,NULL,NULL,NULL,NULL),(136429,'Experimental MF/BP Leaf Term GOA',NULL,5597,NULL,'GO:0071456|P:cellular response to hypoxia|IEP; GO:0045023|P:G0 to G1 transition|IEP; GO:0050821|P:protein stabilization|IEP',NULL,NULL,NULL,NULL,NULL),(136430,'Experimental MF/BP Leaf Term GOA',NULL,5599,NULL,'GO:0099038|F:ceramide-translocating ATPase activity|IDA; GO:0090554|F:phosphatidylcholine-translocating ATPase activity|IDA; GO:0090555|F:phosphatidylethanolamine-translocating ATPase activity|IDA; GO:0099040|P:ceramide translocation|IDA; GO:0000086|P:G2/M transition of mitotic cell cycle|IDA',NULL,NULL,NULL,NULL,NULL),(136431,'Experimental MF/BP Leaf Term GOA',NULL,5600,NULL,'GO:0090554|F:phosphatidylcholine-translocating ATPase activity|IDA; GO:1903413|P:cellular response to bile acid|IDA',NULL,NULL,NULL,NULL,NULL),(136432,'Experimental MF/BP Leaf Term GOA',NULL,5602,NULL,'GO:0046966|F:thyroid hormone receptor binding|IDA; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(136433,'Experimental MF/BP Leaf Term GOA',NULL,5604,NULL,'GO:0046966|F:thyroid hormone receptor binding|IDA; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(136434,'Experimental MF/BP Leaf Term GOA',NULL,5605,NULL,'GO:0000831|F:inositol hexakisphosphate 6-kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136435,'Experimental MF/BP Leaf Term GOA',NULL,5606,NULL,'GO:1900036|P:positive regulation of cellular response to heat|IMP',NULL,NULL,NULL,NULL,NULL),(136436,'Experimental MF/BP Leaf Term GOA',NULL,5607,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA',NULL,NULL,NULL,NULL,NULL),(136437,'Experimental MF/BP Leaf Term GOA',NULL,5608,NULL,'GO:0003743|F:translation initiation factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136438,'Experimental MF/BP Leaf Term GOA',NULL,5611,NULL,'GO:0042609|F:CD4 receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(136439,'Experimental MF/BP Leaf Term GOA',NULL,5612,NULL,'GO:0070119|F:ciliary neurotrophic factor binding|IPI; GO:0019981|F:interleukin-6 binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0070120|P:ciliary neurotrophic factor-mediated signaling pathway|IMP; GO:0031018|P:endocrine pancreas development|IMP; GO:0070102|P:interleukin-6-mediated signaling pathway|IMP; GO:0032966|P:negative regulation of collagen biosynthetic process|IDA; GO:0010536|P:positive regulation of activation of Janus kinase activity|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(136440,'Experimental MF/BP Leaf Term GOA',NULL,5614,NULL,'GO:0005134|F:interleukin-2 receptor binding|IPI; GO:0030890|P:positive regulation of B cell proliferation|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA; GO:0007260|P:tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(136441,'Experimental MF/BP Leaf Term GOA',NULL,5616,NULL,'GO:0042976|P:activation of Janus kinase activity|IGI; GO:1903660|P:negative regulation of complement-dependent cytotoxicity|IMP; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IMP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IGI; GO:0035745|P:T-helper 2 cell cytokine production|IDA',NULL,NULL,NULL,NULL,NULL),(136442,'Experimental MF/BP Leaf Term GOA',NULL,5627,NULL,'GO:0005086|F:ARF guanyl-nucleotide exchange factor activity|IMP',NULL,NULL,NULL,NULL,NULL),(136443,'Experimental MF/BP Leaf Term GOA',NULL,5629,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136444,'Experimental MF/BP Leaf Term GOA',NULL,5633,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136445,'Experimental MF/BP Leaf Term GOA',NULL,5635,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136446,'Experimental MF/BP Leaf Term GOA',NULL,5639,NULL,'GO:0016153|F:urocanate hydratase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136447,'Experimental MF/BP Leaf Term GOA',NULL,5644,NULL,'GO:0072656|P:maintenance of protein location in mitochondrion|IMP',NULL,NULL,NULL,NULL,NULL),(136448,'Experimental MF/BP Leaf Term GOA',NULL,5649,NULL,'GO:0042017|F:interleukin-22 binding|IDA; GO:0042018|F:interleukin-22 receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136449,'Experimental MF/BP Leaf Term GOA',NULL,5650,NULL,'GO:0050501|F:hyaluronan synthase activity|IMP; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0036120|P:cellular response to platelet-derived growth factor stimulus|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IEP; GO:0030213|P:hyaluronan biosynthetic process|IDA; GO:1900625|P:positive regulation of monocyte aggregation|IMP',NULL,NULL,NULL,NULL,NULL),(136450,'Experimental MF/BP Leaf Term GOA',NULL,5651,NULL,'GO:0033754|F:indoleamine 2,3-dioxygenase activity|IDA; GO:0004833|F:tryptophan 2,3-dioxygenase activity|EXP; GO:0019441|P:tryptophan catabolic process to kynurenine|IDA',NULL,NULL,NULL,NULL,NULL),(136451,'Experimental MF/BP Leaf Term GOA',NULL,5656,NULL,'GO:0045078|P:positive regulation of interferon-gamma biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136452,'Experimental MF/BP Leaf Term GOA',NULL,5658,NULL,'GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136453,'Experimental MF/BP Leaf Term GOA',NULL,5660,NULL,'GO:0006978|P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IDA; GO:0043983|P:histone H4-K12 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(136454,'Experimental MF/BP Leaf Term GOA',NULL,5668,NULL,'GO:0005521|F:lamin binding|IDA; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0070936|P:protein K48-linked ubiquitination|IMP; GO:0060337|P:type I interferon signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136455,'Experimental MF/BP Leaf Term GOA',NULL,5680,NULL,'GO:0005113|F:patched binding|IPI; GO:0042733|P:embryonic digit morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136456,'Experimental MF/BP Leaf Term GOA',NULL,5682,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136457,'Experimental MF/BP Leaf Term GOA',NULL,5683,NULL,'GO:0045515|F:interleukin-18 receptor binding|IDA; GO:0032148|P:activation of protein kinase B activity|IDA; GO:0035655|P:interleukin-18-mediated signaling pathway|IDA; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IDA; GO:0042104|P:positive regulation of activated T cell proliferation|IDA; GO:0051142|P:positive regulation of NK T cell proliferation|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:2000556|P:positive regulation of T-helper 1 cell cytokine production|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA; GO:0042088|P:T-helper 1 type immune response|IDA',NULL,NULL,NULL,NULL,NULL),(136458,'Experimental MF/BP Leaf Term GOA',NULL,5684,NULL,'GO:0008083|F:growth factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136459,'Experimental MF/BP Leaf Term GOA',NULL,5685,NULL,'GO:0004911|F:interleukin-2 receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136460,'Experimental MF/BP Leaf Term GOA',NULL,5694,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0045656|P:negative regulation of monocyte differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(136461,'Experimental MF/BP Leaf Term GOA',NULL,5695,NULL,'GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(136462,'Experimental MF/BP Leaf Term GOA',NULL,5696,NULL,'GO:0036120|P:cellular response to platelet-derived growth factor stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(136463,'Experimental MF/BP Leaf Term GOA',NULL,5697,NULL,'GO:0071456|P:cellular response to hypoxia|IDA; GO:0006888|P:ER to Golgi vesicle-mediated transport|IDA; GO:1903298|P:negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136464,'Experimental MF/BP Leaf Term GOA',NULL,5699,NULL,'GO:0008811|F:chloramphenicol O-acetyltransferase activity|IMP; GO:0035458|P:cellular response to interferon-beta|IDA; GO:2000552|P:negative regulation of T-helper 2 cell cytokine production|IDA; GO:0033141|P:positive regulation of peptidyl-serine phosphorylation of STAT protein|IDA; GO:0060337|P:type I interferon signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136465,'Experimental MF/BP Leaf Term GOA',NULL,5706,NULL,'GO:0060333|P:interferon-gamma-mediated signaling pathway|IDA; GO:0060559|P:positive regulation of calcidiol 1-monooxygenase activity|IDA; GO:0032834|P:positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response|IDA; GO:1904798|P:positive regulation of core promoter binding|IDA; GO:0060550|P:positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|IDA; GO:0060552|P:positive regulation of fructose 1,6-bisphosphate metabolic process|IDA; GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IDA; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IDA; GO:0033141|P:positive regulation of peptidyl-serine phosphorylation of STAT protein|IDA; GO:0033160|P:positive regulation of protein import into nucleus, translocation|IDA; GO:2000309|P:positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA; GO:0000060|P:protein import into nucleus, translocation|IDA',NULL,NULL,NULL,NULL,NULL),(136466,'Experimental MF/BP Leaf Term GOA',NULL,5708,NULL,'GO:0005158|F:insulin receptor binding|IPI; GO:0005159|F:insulin-like growth factor receptor binding|IDA; GO:0032148|P:activation of protein kinase B activity|IMP; GO:0035630|P:bone mineralization involved in bone maturation|IDA; GO:1904646|P:cellular response to amyloid-beta|IGI; GO:0070371|P:ERK1 and ERK2 cascade|IMP; GO:0048009|P:insulin-like growth factor receptor signaling pathway|IMP; GO:1905460|P:negative regulation of vascular associated smooth muscle cell apoptotic process|IMP; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IMP; GO:0042104|P:positive regulation of activated T cell proliferation|IDA; GO:0070886|P:positive regulation of calcineurin-NFAT signaling cascade|IDA; GO:0061051|P:positive regulation of cell growth involved in cardiac muscle cell development|IDA; GO:0046326|P:positive regulation of glucose import|IDA; GO:0045725|P:positive regulation of glycogen biosynthetic process|IDA; GO:0043568|P:positive regulation of insulin-like growth factor receptor signaling pathway|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0033160|P:positive regulation of protein import into nucleus, translocation|IDA; GO:1904075|P:positive regulation of trophectodermal cell proliferation|IMP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IMP; GO:0043491|P:protein kinase B signaling|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136467,'Experimental MF/BP Leaf Term GOA',NULL,5712,NULL,'GO:0051059|F:NF-kappaB binding|IDA; GO:0008139|F:nuclear localization sequence binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0007253|P:cytoplasmic sequestering of NF-kappaB|IMP; GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IDA; GO:0010745|P:negative regulation of macrophage derived foam cell differentiation|IMP; GO:0010875|P:positive regulation of cholesterol efflux|IMP',NULL,NULL,NULL,NULL,NULL),(136468,'Experimental MF/BP Leaf Term GOA',NULL,5713,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0097110|F:scaffold protein binding|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IMP; GO:0070498|P:interleukin-1-mediated signaling pathway|IMP; GO:1903347|P:negative regulation of bicellular tight junction assembly|IMP; GO:0035509|P:negative regulation of myosin-light-chain-phosphatase activity|IMP',NULL,NULL,NULL,NULL,NULL),(136469,'Experimental MF/BP Leaf Term GOA',NULL,5714,NULL,'GO:0003094|P:glomerular filtration|IMP',NULL,NULL,NULL,NULL,NULL),(136470,'Experimental MF/BP Leaf Term GOA',NULL,5717,NULL,'GO:0008270|F:zinc ion binding|IMP',NULL,NULL,NULL,NULL,NULL),(136471,'Experimental MF/BP Leaf Term GOA',NULL,5718,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0008270|F:zinc ion binding|IMP',NULL,NULL,NULL,NULL,NULL),(136472,'Experimental MF/BP Leaf Term GOA',NULL,5720,NULL,'GO:0045086|P:positive regulation of interleukin-2 biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(136473,'Experimental MF/BP Leaf Term GOA',NULL,5722,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0021757|P:caudate nucleus development|IMP; GO:0021987|P:cerebral cortex development|IEP; GO:0021758|P:putamen development|IMP',NULL,NULL,NULL,NULL,NULL),(136474,'Experimental MF/BP Leaf Term GOA',NULL,5724,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0070412|F:R-SMAD binding|IPI; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0000979|F:RNA polymerase II core promoter sequence-specific DNA binding|IMP; GO:0071276|P:cellular response to cadmium ion|IMP; GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(136475,'Experimental MF/BP Leaf Term GOA',NULL,5730,NULL,'GO:0016913|F:follicle-stimulating hormone activity|IDA',NULL,NULL,NULL,NULL,NULL),(136476,'Experimental MF/BP Leaf Term GOA',NULL,5732,NULL,'GO:0001843|P:neural tube closure|IMP; GO:1905515|P:non-motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136477,'Experimental MF/BP Leaf Term GOA',NULL,5733,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0033592|F:RNA strand annealing activity|IDA',NULL,NULL,NULL,NULL,NULL),(136478,'Experimental MF/BP Leaf Term GOA',NULL,5735,NULL,'GO:0008424|F:glycoprotein 6-alpha-L-fucosyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136479,'Experimental MF/BP Leaf Term GOA',NULL,5736,NULL,'GO:0030165|F:PDZ domain binding|IPI; GO:0042813|F:Wnt-activated receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136480,'Experimental MF/BP Leaf Term GOA',NULL,5738,NULL,'GO:0005109|F:frizzled binding|IPI; GO:0030165|F:PDZ domain binding|IPI; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0042813|F:Wnt-activated receptor activity|IDA; GO:0017147|F:Wnt-protein binding|IPI; GO:0042666|P:negative regulation of ectodermal cell fate specification|IMP; GO:0038031|P:non-canonical Wnt signaling pathway via JNK cascade|IMP; GO:0060054|P:positive regulation of epithelial cell proliferation involved in wound healing|IMP',NULL,NULL,NULL,NULL,NULL),(136481,'Experimental MF/BP Leaf Term GOA',NULL,5739,NULL,'GO:0030165|F:PDZ domain binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0042813|F:Wnt-activated receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136482,'Experimental MF/BP Leaf Term GOA',NULL,5740,NULL,'GO:0061513|F:glucose 6-phosphate:inorganic phosphate antiporter activity|IDA; GO:0015152|F:glucose-6-phosphate transmembrane transporter activity|IDA; GO:0015760|P:glucose-6-phosphate transport|IDA',NULL,NULL,NULL,NULL,NULL),(136483,'Experimental MF/BP Leaf Term GOA',NULL,5741,NULL,'GO:0061513|F:glucose 6-phosphate:inorganic phosphate antiporter activity|IDA; GO:0015760|P:glucose-6-phosphate transport|IDA',NULL,NULL,NULL,NULL,NULL),(136484,'Experimental MF/BP Leaf Term GOA',NULL,5744,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0003978|F:UDP-glucose 4-epimerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136485,'Experimental MF/BP Leaf Term GOA',NULL,5745,NULL,'GO:0005524|F:ATP binding|IDA; GO:0004335|F:galactokinase activity|IDA; GO:0005534|F:galactose binding|IDA',NULL,NULL,NULL,NULL,NULL),(136486,'Experimental MF/BP Leaf Term GOA',NULL,5746,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136487,'Experimental MF/BP Leaf Term GOA',NULL,5747,NULL,'GO:0070742|F:C2H2 zinc finger domain binding|IPI; GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0030221|P:basophil differentiation|IEP; GO:0030222|P:eosinophil differentiation|IEP; GO:0035854|P:eosinophil fate commitment|IDA; GO:0008584|P:male gonad development|IMP; GO:0030219|P:megakaryocyte differentiation|IMP; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IMP; GO:0070527|P:platelet aggregation|IMP; GO:0030220|P:platelet formation|IMP; GO:0010724|P:regulation of definitive erythrocyte differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(136488,'Experimental MF/BP Leaf Term GOA',NULL,5748,NULL,'GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0033622|P:integrin activation|IMP; GO:0007229|P:integrin-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136489,'Experimental MF/BP Leaf Term GOA',NULL,5751,NULL,'GO:0005007|F:fibroblast growth factor-activated receptor activity|IDA; GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(136490,'Experimental MF/BP Leaf Term GOA',NULL,5753,NULL,'GO:0072378|P:blood coagulation, fibrin clot formation|IDA; GO:0042730|P:fibrinolysis|IDA; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IDA; GO:0070527|P:platelet aggregation|IDA; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(136491,'Experimental MF/BP Leaf Term GOA',NULL,5755,NULL,'GO:0002752|P:cell surface pattern recognition receptor signaling pathway|IMP; GO:2000484|P:positive regulation of interleukin-8 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(136492,'Experimental MF/BP Leaf Term GOA',NULL,5757,NULL,'GO:0097037|P:heme export|IMP',NULL,NULL,NULL,NULL,NULL),(136493,'Experimental MF/BP Leaf Term GOA',NULL,5758,NULL,'GO:0004499|F:N,N-dimethylaniline monooxygenase activity|IDA; GO:0070995|P:NADPH oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(136494,'Experimental MF/BP Leaf Term GOA',NULL,5760,NULL,'GO:0004326|F:tetrahydrofolylpolyglutamate synthase activity|IDA; GO:0046901|P:tetrahydrofolylpolyglutamate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136495,'Experimental MF/BP Leaf Term GOA',NULL,5761,NULL,'GO:0031624|F:ubiquitin conjugating enzyme binding|IPI; GO:0006309|P:apoptotic DNA fragmentation|IMP; GO:0002074|P:extraocular skeletal muscle development|IMP; GO:0001541|P:ovarian follicle development|IMP',NULL,NULL,NULL,NULL,NULL),(136496,'Experimental MF/BP Leaf Term GOA',NULL,5765,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0070317|P:negative regulation of G0 to G1 transition|IDA',NULL,NULL,NULL,NULL,NULL),(136497,'Experimental MF/BP Leaf Term GOA',NULL,5766,NULL,'GO:0006880|P:intracellular sequestering of iron ion|IDA',NULL,NULL,NULL,NULL,NULL),(136498,'Experimental MF/BP Leaf Term GOA',NULL,5773,NULL,'GO:0061436|P:establishment of skin barrier|IEP',NULL,NULL,NULL,NULL,NULL),(136499,'Experimental MF/BP Leaf Term GOA',NULL,5776,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0097718|F:disordered domain specific binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0035987|P:endodermal cell differentiation|IDA; GO:0033622|P:integrin activation|IMP; GO:2001202|P:negative regulation of transforming growth factor-beta secretion|IDA; GO:1904237|P:positive regulation of substrate-dependent cell migration, cell attachment to substrate|IDA; GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(136500,'Experimental MF/BP Leaf Term GOA',NULL,5778,NULL,'GO:0010980|P:positive regulation of vitamin D 24-hydroxylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136501,'Experimental MF/BP Leaf Term GOA',NULL,5780,NULL,'GO:0051087|F:chaperone binding|IDA',NULL,NULL,NULL,NULL,NULL),(136502,'Experimental MF/BP Leaf Term GOA',NULL,5781,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IGI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0045403|P:negative regulation of interleukin-4 biosynthetic process|IDA; GO:0030220|P:platelet formation|IGI; GO:0045078|P:positive regulation of interferon-gamma biosynthetic process|IDA; GO:0010724|P:regulation of definitive erythrocyte differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(136503,'Experimental MF/BP Leaf Term GOA',NULL,5784,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071455|P:cellular response to hyperoxia|IDA',NULL,NULL,NULL,NULL,NULL),(136504,'Experimental MF/BP Leaf Term GOA',NULL,5789,NULL,'GO:1904234|P:positive regulation of aconitate hydratase activity|IGI; GO:1904231|P:positive regulation of succinate dehydrogenase activity|IGI',NULL,NULL,NULL,NULL,NULL),(136505,'Experimental MF/BP Leaf Term GOA',NULL,5795,NULL,'GO:0005168|F:neurotrophin TRKA receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(136506,'Experimental MF/BP Leaf Term GOA',NULL,5801,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0017147|F:Wnt-protein binding|IPI; GO:0071157|P:negative regulation of cell cycle arrest|IMP',NULL,NULL,NULL,NULL,NULL),(136507,'Experimental MF/BP Leaf Term GOA',NULL,5803,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051024|P:positive regulation of immunoglobulin secretion|IDA',NULL,NULL,NULL,NULL,NULL),(136508,'Experimental MF/BP Leaf Term GOA',NULL,5804,NULL,'GO:0005068|F:transmembrane receptor protein tyrosine kinase adaptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136509,'Experimental MF/BP Leaf Term GOA',NULL,5806,NULL,'GO:0032794|F:GTPase activating protein binding|IMP',NULL,NULL,NULL,NULL,NULL),(136510,'Experimental MF/BP Leaf Term GOA',NULL,5807,NULL,'GO:0004966|F:galanin receptor activity|IDA; GO:0051464|P:positive regulation of cortisol secretion|IMP',NULL,NULL,NULL,NULL,NULL),(136511,'Experimental MF/BP Leaf Term GOA',NULL,5808,NULL,'GO:0071456|P:cellular response to hypoxia|IDA; GO:0008584|P:male gonad development|IEP; GO:0003148|P:outflow tract septum morphogenesis|IMP; GO:0110024|P:positive regulation of cardiac muscle myoblast proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(136512,'Experimental MF/BP Leaf Term GOA',NULL,5810,NULL,'GO:0031018|P:endocrine pancreas development|IDA',NULL,NULL,NULL,NULL,NULL),(136513,'Experimental MF/BP Leaf Term GOA',NULL,5811,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136514,'Experimental MF/BP Leaf Term GOA',NULL,5812,NULL,'GO:0035502|P:metanephric part of ureteric bud development|IEP; GO:1901248|P:positive regulation of lung ciliated cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(136515,'Experimental MF/BP Leaf Term GOA',NULL,5815,NULL,'GO:0042803|F:protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(136516,'Experimental MF/BP Leaf Term GOA',NULL,5822,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136517,'Experimental MF/BP Leaf Term GOA',NULL,5827,NULL,'GO:0030165|F:PDZ domain binding|IPI; GO:0017147|F:Wnt-protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(136518,'Experimental MF/BP Leaf Term GOA',NULL,5828,NULL,'GO:0001540|F:amyloid-beta binding|IPI; GO:0030165|F:PDZ domain binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0042813|F:Wnt-activated receptor activity|IDA; GO:0007223|P:Wnt signaling pathway, calcium modulating pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136519,'Experimental MF/BP Leaf Term GOA',NULL,5829,NULL,'GO:0030145|F:manganese ion binding|IDA; GO:0004653|F:polypeptide N-acetylgalactosaminyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136520,'Experimental MF/BP Leaf Term GOA',NULL,5832,NULL,'GO:0003148|P:outflow tract septum morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136521,'Experimental MF/BP Leaf Term GOA',NULL,5834,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136522,'Experimental MF/BP Leaf Term GOA',NULL,5835,NULL,'GO:0005542|F:folic acid binding|IDA; GO:0061714|F:folic acid receptor activity|IDA; GO:0051870|F:methotrexate binding|IDA',NULL,NULL,NULL,NULL,NULL),(136523,'Experimental MF/BP Leaf Term GOA',NULL,5836,NULL,'GO:0035035|F:histone acetyltransferase binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:0051525|F:NFAT protein binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0032792|P:negative regulation of CREB transcription factor activity|IDA; GO:0045085|P:negative regulation of interleukin-2 biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(136524,'Experimental MF/BP Leaf Term GOA',NULL,5837,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136525,'Experimental MF/BP Leaf Term GOA',NULL,5839,NULL,'GO:0071364|P:cellular response to epidermal growth factor stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(136526,'Experimental MF/BP Leaf Term GOA',NULL,5840,NULL,'GO:0050681|F:androgen receptor binding|IPI; GO:0070410|F:co-SMAD binding|IMP; GO:0070412|F:R-SMAD binding|IMP; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IDA; GO:0033147|P:negative regulation of intracellular estrogen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136527,'Experimental MF/BP Leaf Term GOA',NULL,5843,NULL,'GO:0034063|P:stress granule assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136528,'Experimental MF/BP Leaf Term GOA',NULL,5844,NULL,'GO:0050852|P:T cell receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136529,'Experimental MF/BP Leaf Term GOA',NULL,5845,NULL,'GO:0097718|F:disordered domain specific binding|IPI; GO:0046875|F:ephrin receptor binding|IPI; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136530,'Experimental MF/BP Leaf Term GOA',NULL,5848,NULL,'GO:0004034|F:aldose 1-epimerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136531,'Experimental MF/BP Leaf Term GOA',NULL,5849,NULL,'GO:0070538|F:oleic acid binding|IDA',NULL,NULL,NULL,NULL,NULL),(136532,'Experimental MF/BP Leaf Term GOA',NULL,5851,NULL,'GO:0097150|P:neuronal stem cell population maintenance|IEP',NULL,NULL,NULL,NULL,NULL),(136533,'Experimental MF/BP Leaf Term GOA',NULL,5853,NULL,'GO:0051496|P:positive regulation of stress fiber assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136534,'Experimental MF/BP Leaf Term GOA',NULL,5854,NULL,'GO:0097718|F:disordered domain specific binding|IPI',NULL,NULL,NULL,NULL,NULL),(136535,'Experimental MF/BP Leaf Term GOA',NULL,5855,NULL,'GO:0035024|P:negative regulation of Rho protein signal transduction|IMP; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136536,'Experimental MF/BP Leaf Term GOA',NULL,5856,NULL,'GO:0020037|F:heme binding|IDA',NULL,NULL,NULL,NULL,NULL),(136537,'Experimental MF/BP Leaf Term GOA',NULL,5858,NULL,'GO:0030506|F:ankyrin binding|IPI',NULL,NULL,NULL,NULL,NULL),(136538,'Experimental MF/BP Leaf Term GOA',NULL,5859,NULL,'GO:0061614|P:pri-miRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(136539,'Experimental MF/BP Leaf Term GOA',NULL,5863,NULL,'GO:0048185|F:activin binding|IPI; GO:0001968|F:fibronectin binding|IPI',NULL,NULL,NULL,NULL,NULL),(136540,'Experimental MF/BP Leaf Term GOA',NULL,5866,NULL,'GO:0050681|F:androgen receptor binding|IDA; GO:0035926|P:chemokine (C-C motif) ligand 2 secretion|IDA; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IDA; GO:0036035|P:osteoclast development|IDA',NULL,NULL,NULL,NULL,NULL),(136541,'Experimental MF/BP Leaf Term GOA',NULL,5867,NULL,'GO:0033148|P:positive regulation of intracellular estrogen receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136542,'Experimental MF/BP Leaf Term GOA',NULL,5868,NULL,'GO:0002088|P:lens development in camera-type eye|IMP; GO:0042789|P:mRNA transcription by RNA polymerase II|IDA; GO:0071157|P:negative regulation of cell cycle arrest|IMP; GO:2001111|P:positive regulation of lens epithelial cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(136543,'Experimental MF/BP Leaf Term GOA',NULL,5869,NULL,'GO:0005542|F:folic acid binding|IDA; GO:0061714|F:folic acid receptor activity|IMP; GO:0051870|F:methotrexate binding|IDA; GO:0071231|P:cellular response to folic acid|IDA',NULL,NULL,NULL,NULL,NULL),(136544,'Experimental MF/BP Leaf Term GOA',NULL,5870,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0003214|P:cardiac left ventricle morphogenesis|IMP; GO:0097070|P:ductus arteriosus closure|IMP; GO:0048557|P:embryonic digestive tract morphogenesis|IMP; GO:0048613|P:embryonic ectodermal digestive tract morphogenesis|IMP; GO:0003197|P:endocardial cushion development|IMP; GO:0001701|P:in utero embryonic development|IMP; GO:0060426|P:lung vasculature development|IMP; GO:0007494|P:midgut development|IMP; GO:0031016|P:pancreas development|IMP; GO:0072001|P:renal system development|IMP; GO:0060438|P:trachea development|IMP; GO:0072189|P:ureter development|IMP; GO:0060841|P:venous blood vessel development|IMP',NULL,NULL,NULL,NULL,NULL),(136545,'Experimental MF/BP Leaf Term GOA',NULL,5872,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0007095|P:mitotic G2 DNA damage checkpoint|IGI',NULL,NULL,NULL,NULL,NULL),(136546,'Experimental MF/BP Leaf Term GOA',NULL,5873,NULL,'GO:0004982|F:N-formyl peptide receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136547,'Experimental MF/BP Leaf Term GOA',NULL,5879,NULL,'GO:0005109|F:frizzled binding|IPI; GO:0030165|F:PDZ domain binding|IPI; GO:0042813|F:Wnt-activated receptor activity|IDA; GO:0017147|F:Wnt-protein binding|IPI; GO:0035425|P:autocrine signaling|IDA; GO:0044338|P:canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation|IMP; GO:0044339|P:canonical Wnt signaling pathway involved in osteoblast differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(136548,'Experimental MF/BP Leaf Term GOA',NULL,5883,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:1900745|P:positive regulation of p38MAPK cascade|IDA',NULL,NULL,NULL,NULL,NULL),(136549,'Experimental MF/BP Leaf Term GOA',NULL,5884,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:1903351|P:cellular response to dopamine|IMP',NULL,NULL,NULL,NULL,NULL),(136550,'Experimental MF/BP Leaf Term GOA',NULL,5889,NULL,'GO:0048013|P:ephrin receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136551,'Experimental MF/BP Leaf Term GOA',NULL,5892,NULL,'GO:0004307|F:ethanolaminephosphotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136552,'Experimental MF/BP Leaf Term GOA',NULL,5896,NULL,'GO:0070182|F:DNA polymerase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136553,'Experimental MF/BP Leaf Term GOA',NULL,5899,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0048251|P:elastic fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136554,'Experimental MF/BP Leaf Term GOA',NULL,5901,NULL,'GO:0050577|F:GDP-L-fucose synthase activity|IDA; GO:0047918|F:GDP-mannose 3,5-epimerase activity|IDA; GO:0042351|P:\'de novo\' GDP-L-fucose biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136555,'Experimental MF/BP Leaf Term GOA',NULL,5902,NULL,'GO:0008201|F:heparin binding|IDA; GO:0007254|P:JNK cascade|IPI',NULL,NULL,NULL,NULL,NULL),(136556,'Experimental MF/BP Leaf Term GOA',NULL,5904,NULL,'GO:2000546|P:positive regulation of endothelial cell chemotaxis to fibroblast growth factor|IDA',NULL,NULL,NULL,NULL,NULL),(136557,'Experimental MF/BP Leaf Term GOA',NULL,5905,NULL,'GO:0005105|F:type 1 fibroblast growth factor receptor binding|IDA; GO:0005111|F:type 2 fibroblast growth factor receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(136558,'Experimental MF/BP Leaf Term GOA',NULL,5906,NULL,'GO:0043149|P:stress fiber assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136559,'Experimental MF/BP Leaf Term GOA',NULL,5910,NULL,'GO:0035612|F:AP-2 adaptor complex binding|IDA',NULL,NULL,NULL,NULL,NULL),(136560,'Experimental MF/BP Leaf Term GOA',NULL,5919,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0072378|P:blood coagulation, fibrin clot formation|IDA; GO:0042730|P:fibrinolysis|IDA; GO:0043152|P:induction of bacterial agglutination|IDA; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IDA; GO:0070527|P:platelet aggregation|IDA; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(136561,'Experimental MF/BP Leaf Term GOA',NULL,5920,NULL,'GO:0017134|F:fibroblast growth factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(136562,'Experimental MF/BP Leaf Term GOA',NULL,5923,NULL,'GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IMP; GO:0000266|P:mitochondrial fission|IDA; GO:0043653|P:mitochondrial fragmentation involved in apoptotic process|IDA; GO:0070584|P:mitochondrion morphogenesis|IMP; GO:0016559|P:peroxisome fission|IDA; GO:0051561|P:positive regulation of mitochondrial calcium ion concentration|IMP; GO:0090141|P:positive regulation of mitochondrial fission|IDA; GO:0006626|P:protein targeting to mitochondrion|IMP; GO:0001836|P:release of cytochrome c from mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(136563,'Experimental MF/BP Leaf Term GOA',NULL,5926,NULL,'GO:0035269|P:protein O-linked mannosylation|IMP',NULL,NULL,NULL,NULL,NULL),(136564,'Experimental MF/BP Leaf Term GOA',NULL,5932,NULL,'GO:0035609|P:C-terminal protein deglutamylation|IDA',NULL,NULL,NULL,NULL,NULL),(136565,'Experimental MF/BP Leaf Term GOA',NULL,5933,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136566,'Experimental MF/BP Leaf Term GOA',NULL,5935,NULL,'GO:0006978|P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IMP; GO:0000086|P:G2/M transition of mitotic cell cycle|IDA',NULL,NULL,NULL,NULL,NULL),(136567,'Experimental MF/BP Leaf Term GOA',NULL,5936,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001946|P:lymphangiogenesis|IMP; GO:0120163|P:negative regulation of cold-induced thermogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136568,'Experimental MF/BP Leaf Term GOA',NULL,5940,NULL,'GO:0015143|F:urate transmembrane transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(136569,'Experimental MF/BP Leaf Term GOA',NULL,5942,NULL,'GO:0033300|F:dehydroascorbic acid transmembrane transporter activity|EXP; GO:0005536|F:glucose binding|IDA',NULL,NULL,NULL,NULL,NULL),(136570,'Experimental MF/BP Leaf Term GOA',NULL,5943,NULL,'GO:0030165|F:PDZ domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(136571,'Experimental MF/BP Leaf Term GOA',NULL,5944,NULL,'GO:0022841|F:potassium ion leak channel activity|IDA; GO:0060075|P:regulation of resting membrane potential|IMP',NULL,NULL,NULL,NULL,NULL),(136572,'Experimental MF/BP Leaf Term GOA',NULL,5950,NULL,'GO:0097602|F:cullin family protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(136573,'Experimental MF/BP Leaf Term GOA',NULL,5954,NULL,'GO:0005524|F:ATP binding|IDA; GO:0072354|F:histone kinase activity (H3-T3 specific)|IMP; GO:2000751|P:histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore|IMP',NULL,NULL,NULL,NULL,NULL),(136574,'Experimental MF/BP Leaf Term GOA',NULL,5955,NULL,'GO:0010181|F:FMN binding|IDA; GO:0008891|F:glycolate oxidase activity|IDA; GO:0001561|P:fatty acid alpha-oxidation|IDA; GO:0046296|P:glycolate catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136575,'Experimental MF/BP Leaf Term GOA',NULL,5958,NULL,'GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:2000588|P:positive regulation of platelet-derived growth factor receptor-beta signaling pathway|IMP; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(136576,'Experimental MF/BP Leaf Term GOA',NULL,5960,NULL,'GO:0035425|P:autocrine signaling|IDA; GO:0071456|P:cellular response to hypoxia|IEP',NULL,NULL,NULL,NULL,NULL),(136577,'Experimental MF/BP Leaf Term GOA',NULL,5961,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136578,'Experimental MF/BP Leaf Term GOA',NULL,5963,NULL,'GO:0004419|F:hydroxymethylglutaryl-CoA lyase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136579,'Experimental MF/BP Leaf Term GOA',NULL,5964,NULL,'GO:0071157|P:negative regulation of cell cycle arrest|IMP',NULL,NULL,NULL,NULL,NULL),(136580,'Experimental MF/BP Leaf Term GOA',NULL,5969,NULL,'GO:0046539|F:histamine N-methyltransferase activity|IDA; GO:0001695|P:histamine catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136581,'Experimental MF/BP Leaf Term GOA',NULL,5972,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IMP',NULL,NULL,NULL,NULL,NULL),(136582,'Experimental MF/BP Leaf Term GOA',NULL,5974,NULL,'GO:2000296|P:negative regulation of hydrogen peroxide catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136583,'Experimental MF/BP Leaf Term GOA',NULL,5975,NULL,'GO:0030305|F:heparanase activity|IDA; GO:0045545|F:syndecan binding|IDA; GO:0030200|P:heparan sulfate proteoglycan catabolic process|IDA; GO:0033690|P:positive regulation of osteoblast proliferation|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IDA',NULL,NULL,NULL,NULL,NULL),(136584,'Experimental MF/BP Leaf Term GOA',NULL,5982,NULL,'GO:0004397|F:histidine ammonia-lyase activity|EXP',NULL,NULL,NULL,NULL,NULL),(136585,'Experimental MF/BP Leaf Term GOA',NULL,5991,NULL,'GO:0050211|F:procollagen galactosyltransferase activity|IMP; GO:1904028|P:positive regulation of collagen fibril organization|IMP',NULL,NULL,NULL,NULL,NULL),(136586,'Experimental MF/BP Leaf Term GOA',NULL,5993,NULL,'GO:0035731|F:dinitrosyl-iron complex binding|IDA; GO:0004602|F:glutathione peroxidase activity|IDA; GO:0004364|F:glutathione transferase activity|IDA; GO:0035730|F:S-nitrosoglutathione binding|IDA; GO:0043651|P:linoleic acid metabolic process|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:0043508|P:negative regulation of JUN kinase activity|IDA; GO:0071638|P:negative regulation of monocyte chemotactic protein-1 production|IDA; GO:0051771|P:negative regulation of nitric-oxide synthase biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136587,'Experimental MF/BP Leaf Term GOA',NULL,5996,NULL,'GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:1990573|P:potassium ion import across plasma membrane|IDA; GO:0051289|P:protein homotetramerization|IDA; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0014861|P:regulation of skeletal muscle contraction via regulation of action potential|IMP; GO:0055119|P:relaxation of cardiac muscle|IMP; GO:0090076|P:relaxation of skeletal muscle|IMP',NULL,NULL,NULL,NULL,NULL),(136588,'Experimental MF/BP Leaf Term GOA',NULL,6003,NULL,'GO:0031492|F:nucleosomal DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(136589,'Experimental MF/BP Leaf Term GOA',NULL,6006,NULL,'GO:0006335|P:DNA replication-dependent nucleosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136590,'Experimental MF/BP Leaf Term GOA',NULL,6007,NULL,'GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(136591,'Experimental MF/BP Leaf Term GOA',NULL,6008,NULL,'GO:0052853|F:long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136592,'Experimental MF/BP Leaf Term GOA',NULL,6009,NULL,'GO:0004655|F:porphobilinogen synthase activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(136593,'Experimental MF/BP Leaf Term GOA',NULL,6011,NULL,'GO:0050683|F:AF-1 domain binding|IPI; GO:0035939|F:microsatellite binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136594,'Experimental MF/BP Leaf Term GOA',NULL,6012,NULL,'GO:0046790|F:virion binding|IPI; GO:0006978|P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IDA; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IMP; GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(136595,'Experimental MF/BP Leaf Term GOA',NULL,6013,NULL,'GO:0000082|P:G1/S transition of mitotic cell cycle|IMP',NULL,NULL,NULL,NULL,NULL),(136596,'Experimental MF/BP Leaf Term GOA',NULL,6017,NULL,'GO:0030544|F:Hsp70 protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(136597,'Experimental MF/BP Leaf Term GOA',NULL,6020,NULL,'GO:0070182|F:DNA polymerase binding|IDA; GO:0001530|F:lipopolysaccharide binding|IDA; GO:0001786|F:phosphatidylserine binding|IDA; GO:0043277|P:apoptotic cell clearance|IDA; GO:0017055|P:negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|IDA; GO:0097350|P:neutrophil clearance|IDA; GO:0042104|P:positive regulation of activated T cell proliferation|IMP; GO:2001200|P:positive regulation of dendritic cell differentiation|IMP; GO:2000778|P:positive regulation of interleukin-6 secretion|IDA; GO:0032425|P:positive regulation of mismatch repair|IDA; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA; GO:1905564|P:positive regulation of vascular endothelial cell proliferation|IMP; GO:0035711|P:T-helper 1 cell activation|IDA; GO:0045063|P:T-helper 1 cell differentiation|IMP; GO:1990774|P:tumor necrosis factor secretion|IDA',NULL,NULL,NULL,NULL,NULL),(136598,'Experimental MF/BP Leaf Term GOA',NULL,6021,NULL,'GO:0030742|F:GTP-dependent protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(136599,'Experimental MF/BP Leaf Term GOA',NULL,6023,NULL,'GO:0030948|P:negative regulation of vascular endothelial growth factor receptor signaling pathway|IMP; GO:1903543|P:positive regulation of exosomal secretion|IMP',NULL,NULL,NULL,NULL,NULL),(136600,'Experimental MF/BP Leaf Term GOA',NULL,6025,NULL,'GO:0042282|F:hydroxymethylglutaryl-CoA reductase activity|IDA; GO:0070402|F:NADPH binding|IDA',NULL,NULL,NULL,NULL,NULL),(136601,'Experimental MF/BP Leaf Term GOA',NULL,6026,NULL,'GO:0003691|F:double-stranded telomeric DNA binding|IDA; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(136602,'Experimental MF/BP Leaf Term GOA',NULL,6028,NULL,'GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:1902715|P:positive regulation of interferon-gamma secretion|IDA',NULL,NULL,NULL,NULL,NULL),(136603,'Experimental MF/BP Leaf Term GOA',NULL,6029,NULL,'GO:0072734|P:cellular response to staurosporine|IMP; GO:1902109|P:negative regulation of mitochondrial membrane permeability involved in apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(136604,'Experimental MF/BP Leaf Term GOA',NULL,6030,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0031018|P:endocrine pancreas development|IMP; GO:0035565|P:regulation of pronephros size|IMP',NULL,NULL,NULL,NULL,NULL),(136605,'Experimental MF/BP Leaf Term GOA',NULL,6031,NULL,'GO:0034452|F:dynactin binding|IDA; GO:0045505|F:dynein intermediate chain binding|IDA; GO:0045503|F:dynein light chain binding|IPI; GO:0045022|P:early endosome to late endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(136606,'Experimental MF/BP Leaf Term GOA',NULL,6032,NULL,'GO:0071456|P:cellular response to hypoxia|IDA; GO:0097298|P:regulation of nucleus size|IMP',NULL,NULL,NULL,NULL,NULL),(136607,'Experimental MF/BP Leaf Term GOA',NULL,6033,NULL,'GO:0004322|F:ferroxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136608,'Experimental MF/BP Leaf Term GOA',NULL,6034,NULL,'GO:0052657|F:guanine phosphoribosyltransferase activity|IDA; GO:0004422|F:hypoxanthine phosphoribosyltransferase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0006178|P:guanine salvage|IDA; GO:0043103|P:hypoxanthine salvage|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(136609,'Experimental MF/BP Leaf Term GOA',NULL,6035,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136610,'Experimental MF/BP Leaf Term GOA',NULL,6037,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136611,'Experimental MF/BP Leaf Term GOA',NULL,6039,NULL,'GO:0004392|F:heme oxygenase (decyclizing) activity|IDA',NULL,NULL,NULL,NULL,NULL),(136612,'Experimental MF/BP Leaf Term GOA',NULL,6040,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IMP',NULL,NULL,NULL,NULL,NULL),(136613,'Experimental MF/BP Leaf Term GOA',NULL,6043,NULL,'GO:0008700|F:4-hydroxy-2-oxoglutarate aldolase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0019470|P:4-hydroxyproline catabolic process|IDA; GO:0009436|P:glyoxylate catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(136614,'Experimental MF/BP Leaf Term GOA',NULL,6044,NULL,'GO:0050786|F:RAGE receptor binding|IGI; GO:0071222|P:cellular response to lipopolysaccharide|IEP; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0045654|P:positive regulation of megakaryocyte differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(136615,'Experimental MF/BP Leaf Term GOA',NULL,6046,NULL,'GO:0051131|P:chaperone-mediated protein complex assembly|IDA; GO:0001829|P:trophectodermal cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(136616,'Experimental MF/BP Leaf Term GOA',NULL,6047,NULL,'GO:0045022|P:early endosome to late endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(136617,'Experimental MF/BP Leaf Term GOA',NULL,6049,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(136618,'Experimental MF/BP Leaf Term GOA',NULL,6051,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(136619,'Experimental MF/BP Leaf Term GOA',NULL,6053,NULL,'GO:0071532|F:ankyrin repeat binding|IPI; GO:0051059|F:NF-kappaB binding|IPI; GO:0005112|F:Notch binding|IPI; GO:0036140|F:peptidyl-asparagine 3-dioxygenase activity|IDA; GO:0036139|F:peptidyl-histidine dioxygenase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0061428|P:negative regulation of transcription from RNA polymerase II promoter in response to hypoxia|IDA; GO:0036138|P:peptidyl-histidine hydroxylation|IDA',NULL,NULL,NULL,NULL,NULL),(136620,'Experimental MF/BP Leaf Term GOA',NULL,6054,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(136621,'Experimental MF/BP Leaf Term GOA',NULL,6056,NULL,'GO:0030881|F:beta-2-microglobulin binding|IMP',NULL,NULL,NULL,NULL,NULL),(136622,'Experimental MF/BP Leaf Term GOA',NULL,6061,NULL,'GO:0008143|F:poly(A) binding|IDA; GO:0034046|F:poly(G) binding|IDA',NULL,NULL,NULL,NULL,NULL),(136623,'Experimental MF/BP Leaf Term GOA',NULL,6065,NULL,'GO:0045022|P:early endosome to late endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(136624,'Experimental MF/BP Leaf Term GOA',NULL,6067,NULL,'GO:0097167|P:circadian regulation of translation|IMP',NULL,NULL,NULL,NULL,NULL),(136625,'Experimental MF/BP Leaf Term GOA',NULL,6069,NULL,'GO:0020037|F:heme binding|IDA; GO:0004392|F:heme oxygenase (decyclizing) activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0071456|P:cellular response to hypoxia|IEP; GO:0034101|P:erythrocyte homeostasis|IMP; GO:0006788|P:heme oxidation|IDA; GO:1903589|P:positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IGI; GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IGI; GO:0002246|P:wound healing involved in inflammatory response|IMP',NULL,NULL,NULL,NULL,NULL),(136626,'Experimental MF/BP Leaf Term GOA',NULL,6072,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:1903232|P:melanosome assembly|IDA; GO:0050821|P:protein stabilization|IPI',NULL,NULL,NULL,NULL,NULL),(136627,'Experimental MF/BP Leaf Term GOA',NULL,6073,NULL,'GO:0005524|F:ATP binding|IDA; GO:0055131|F:C3HC4-type RING finger domain binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:0044183|F:protein binding involved in protein folding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051082|F:unfolded protein binding|IDA; GO:0070370|P:cellular heat acclimation|IMP; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IMP; GO:0070434|P:positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway|IMP; GO:1903265|P:positive regulation of tumor necrosis factor-mediated signaling pathway|IMP; GO:0042026|P:protein refolding|IDA; GO:0050821|P:protein stabilization|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136628,'Experimental MF/BP Leaf Term GOA',NULL,6077,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001162|F:RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(136629,'Experimental MF/BP Leaf Term GOA',NULL,6078,NULL,'GO:0005524|F:ATP binding|IDA; GO:0043008|F:ATP-dependent protein binding|IPI; GO:0097718|F:disordered domain specific binding|IPI; GO:0070182|F:DNA polymerase binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:1990226|F:histone methyltransferase binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051131|P:chaperone-mediated protein complex assembly|IDA; GO:0071157|P:negative regulation of cell cycle arrest|IMP; GO:2000010|P:positive regulation of protein localization to cell surface|IDA; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IDA; GO:0007004|P:telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(136630,'Experimental MF/BP Leaf Term GOA',NULL,6080,NULL,'GO:0005524|F:ATP binding|IDA; GO:0055131|F:C3HC4-type RING finger domain binding|IPI; GO:0051087|F:chaperone binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051082|F:unfolded protein binding|IDA; GO:0042026|P:protein refolding|IDA; GO:0061740|P:protein targeting to lysosome involved in chaperone-mediated autophagy|IMP',NULL,NULL,NULL,NULL,NULL),(136631,'Experimental MF/BP Leaf Term GOA',NULL,6084,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136632,'Experimental MF/BP Leaf Term GOA',NULL,6088,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136633,'Experimental MF/BP Leaf Term GOA',NULL,6094,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0004667|F:prostaglandin-D synthase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(136634,'Experimental MF/BP Leaf Term GOA',NULL,6098,NULL,'GO:0000774|F:adenyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136635,'Experimental MF/BP Leaf Term GOA',NULL,6099,NULL,'GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(136636,'Experimental MF/BP Leaf Term GOA',NULL,6103,NULL,'GO:0008198|F:ferrous iron binding|IMP; GO:0004322|F:ferroxidase activity|IMP',NULL,NULL,NULL,NULL,NULL),(136637,'Experimental MF/BP Leaf Term GOA',NULL,6106,NULL,'GO:0035939|F:microsatellite binding|IDA; GO:2000820|P:negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(136638,'Experimental MF/BP Leaf Term GOA',NULL,6107,NULL,'GO:0030881|F:beta-2-microglobulin binding|IPI; GO:0039706|F:co-receptor binding|IPI; GO:1990459|F:transferrin receptor binding|IPI; GO:0098711|P:iron ion import across plasma membrane|IDA; GO:1904283|P:negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I|IGI; GO:1904434|P:positive regulation of ferrous iron binding|IGI; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:1904437|P:positive regulation of transferrin receptor binding|IGI',NULL,NULL,NULL,NULL,NULL),(136639,'Experimental MF/BP Leaf Term GOA',NULL,6109,NULL,'GO:0042104|P:positive regulation of activated T cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(136640,'Experimental MF/BP Leaf Term GOA',NULL,6111,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0035035|F:histone acetyltransferase binding|IPI; GO:0051879|F:Hsp90 protein binding|IDA; GO:0002039|F:p53 binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071456|P:cellular response to hypoxia|IDA; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0032364|P:oxygen homeostasis|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IMP; GO:0061419|P:positive regulation of transcription from RNA polymerase II promoter in response to hypoxia|IDA; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IDA; GO:0010573|P:vascular endothelial growth factor production|IDA',NULL,NULL,NULL,NULL,NULL),(136641,'Experimental MF/BP Leaf Term GOA',NULL,6112,NULL,'GO:0031996|F:thioesterase binding|IPI; GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(136642,'Experimental MF/BP Leaf Term GOA',NULL,6113,NULL,'GO:2000251|P:positive regulation of actin cytoskeleton reorganization|IMP; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(136643,'Experimental MF/BP Leaf Term GOA',NULL,6115,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0051289|P:protein homotetramerization|IPI',NULL,NULL,NULL,NULL,NULL),(136644,'Experimental MF/BP Leaf Term GOA',NULL,6116,NULL,'GO:0001781|P:neutrophil apoptotic process|IDA; GO:0033031|P:positive regulation of neutrophil apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(136645,'Experimental MF/BP Leaf Term GOA',NULL,6126,NULL,'GO:0010917|P:negative regulation of mitochondrial membrane potential|IMP',NULL,NULL,NULL,NULL,NULL),(136646,'Experimental MF/BP Leaf Term GOA',NULL,6128,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136647,'Experimental MF/BP Leaf Term GOA',NULL,6130,NULL,'GO:0071387|P:cellular response to cortisol stimulus|IDA; GO:0010839|P:negative regulation of keratinocyte proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(136648,'Experimental MF/BP Leaf Term GOA',NULL,6136,NULL,'GO:0097322|F:7SK snRNA binding|IDA; GO:0004861|F:cyclin-dependent protein serine/threonine kinase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136649,'Experimental MF/BP Leaf Term GOA',NULL,6137,NULL,'GO:0032020|P:ISG15-protein conjugation|IDA',NULL,NULL,NULL,NULL,NULL),(136650,'Experimental MF/BP Leaf Term GOA',NULL,6139,NULL,'GO:0018812|F:3-hydroxyacyl-CoA dehydratase activity|IDA; GO:0046726|P:positive regulation by virus of viral protein levels in host cell|IMP; GO:0042761|P:very long-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136651,'Experimental MF/BP Leaf Term GOA',NULL,6140,NULL,'GO:0030976|F:thiamine pyrophosphate binding|IDA; GO:0001561|P:fatty acid alpha-oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(136652,'Experimental MF/BP Leaf Term GOA',NULL,6142,NULL,'GO:0030283|F:testosterone dehydrogenase [NAD(P)] activity|IDA; GO:1990180|P:mitochondrial tRNA 3\'-end processing|IDA; GO:0097745|P:mitochondrial tRNA 5\'-end processing|IDA; GO:0070901|P:mitochondrial tRNA methylation|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(136653,'Experimental MF/BP Leaf Term GOA',NULL,6144,NULL,'GO:0061762|P:CAMKK-AMPK signaling cascade|IMP',NULL,NULL,NULL,NULL,NULL),(136654,'Experimental MF/BP Leaf Term GOA',NULL,6147,NULL,'GO:0035478|F:chylomicron binding|IDA; GO:0035473|F:lipase binding|IPI; GO:0051006|P:positive regulation of lipoprotein lipase activity|IMP',NULL,NULL,NULL,NULL,NULL),(136655,'Experimental MF/BP Leaf Term GOA',NULL,6151,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0030955|F:potassium ion binding|IDA; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0034983|P:peptidyl-lysine deacetylation|IDA',NULL,NULL,NULL,NULL,NULL),(136656,'Experimental MF/BP Leaf Term GOA',NULL,6152,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136657,'Experimental MF/BP Leaf Term GOA',NULL,6153,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:1904178|P:negative regulation of adipose tissue development|IMP',NULL,NULL,NULL,NULL,NULL),(136658,'Experimental MF/BP Leaf Term GOA',NULL,6156,NULL,'GO:0042800|F:histone methyltransferase activity (H3-K4 specific)|IDA; GO:0070577|F:lysine-acetylated histone binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0045322|F:unmethylated CpG binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0080182|P:histone H3-K4 trimethylation|IDA; GO:0043984|P:histone H4-K16 acetylation|IMP; GO:1905642|P:negative regulation of DNA methylation|IMP',NULL,NULL,NULL,NULL,NULL),(136659,'Experimental MF/BP Leaf Term GOA',NULL,6157,NULL,'GO:0042800|F:histone methyltransferase activity (H3-K4 specific)|IDA',NULL,NULL,NULL,NULL,NULL),(136660,'Experimental MF/BP Leaf Term GOA',NULL,6158,NULL,'GO:0042800|F:histone methyltransferase activity (H3-K4 specific)|IDA',NULL,NULL,NULL,NULL,NULL),(136661,'Experimental MF/BP Leaf Term GOA',NULL,6159,NULL,'GO:0033148|P:positive regulation of intracellular estrogen receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136662,'Experimental MF/BP Leaf Term GOA',NULL,6160,NULL,'GO:0002039|F:p53 binding|IPI',NULL,NULL,NULL,NULL,NULL),(136663,'Experimental MF/BP Leaf Term GOA',NULL,6162,NULL,'GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(136664,'Experimental MF/BP Leaf Term GOA',NULL,6163,NULL,'GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(136665,'Experimental MF/BP Leaf Term GOA',NULL,6165,NULL,'GO:0003680|F:AT DNA binding|IDA; GO:0070888|F:E-box binding|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0007512|P:adult heart development|IEP; GO:1900745|P:positive regulation of p38MAPK cascade|IMP',NULL,NULL,NULL,NULL,NULL),(136666,'Experimental MF/BP Leaf Term GOA',NULL,6166,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0008013|F:beta-catenin binding|IPI; GO:0070840|F:dynein complex binding|IDA; GO:0042826|F:histone deacetylase binding|IPI; GO:0051879|F:Hsp90 protein binding|IDA; GO:0051787|F:misfolded protein binding|EXP; GO:0048156|F:tau protein binding|IDA; GO:0042903|F:tubulin deacetylase activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0070842|P:aggresome assembly|IMP; GO:0070301|P:cellular response to hydrogen peroxide|IMP; GO:0070846|P:Hsp90 deacetylation|IMP; GO:0061734|P:parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization|IGI; GO:0034983|P:peptidyl-lysine deacetylation|IMP; GO:0070845|P:polyubiquitinated misfolded protein transport|IMP; GO:0090035|P:positive regulation of chaperone-mediated protein complex assembly|IMP; GO:0090042|P:tubulin deacetylation|IDA',NULL,NULL,NULL,NULL,NULL),(136667,'Experimental MF/BP Leaf Term GOA',NULL,6169,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0051059|F:NF-kappaB binding|IPI; GO:0002039|F:p53 binding|IPI; GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0006346|P:methylation-dependent chromatin silencing|IGI; GO:0043922|P:negative regulation by host of viral transcription|IMP; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136668,'Experimental MF/BP Leaf Term GOA',NULL,6173,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IDA; GO:0034115|P:negative regulation of heterotypic cell-cell adhesion|IDA; GO:0045415|P:negative regulation of interleukin-8 biosynthetic process|IDA; GO:1904998|P:negative regulation of leukocyte adhesion to arterial endothelial cell|IGI; GO:0046985|P:positive regulation of hemoglobin biosynthetic process|IMP; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IMP; GO:0061614|P:pri-miRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(136669,'Experimental MF/BP Leaf Term GOA',NULL,6182,NULL,'GO:0035024|P:negative regulation of Rho protein signal transduction|IMP; GO:2000299|P:negative regulation of Rho-dependent protein serine/threonine kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136670,'Experimental MF/BP Leaf Term GOA',NULL,6188,NULL,'GO:0001540|F:amyloid-beta binding|IPI; GO:0042609|F:CD4 receptor binding|IPI; GO:0035718|F:macrophage migration inhibitory factor binding|IPI; GO:0042658|F:MHC class II protein binding, via antigen binding groove|IDA; GO:0023026|F:MHC class II protein complex binding|IDA; GO:0044183|F:protein binding involved in protein folding|IDA; GO:1902166|P:negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP; GO:0030890|P:positive regulation of B cell proliferation|IMP; GO:0045657|P:positive regulation of monocyte differentiation|IDA; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(136671,'Experimental MF/BP Leaf Term GOA',NULL,6190,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136672,'Experimental MF/BP Leaf Term GOA',NULL,6191,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136673,'Experimental MF/BP Leaf Term GOA',NULL,6192,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0035939|F:microsatellite binding|IDA; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(136674,'Experimental MF/BP Leaf Term GOA',NULL,6193,NULL,'GO:0035612|F:AP-2 adaptor complex binding|IPI; GO:0032051|F:clathrin light chain binding|IPI; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:2000588|P:positive regulation of platelet-derived growth factor receptor-beta signaling pathway|IMP; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(136675,'Experimental MF/BP Leaf Term GOA',NULL,6195,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136676,'Experimental MF/BP Leaf Term GOA',NULL,6196,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0042826|F:histone deacetylase binding|IDA',NULL,NULL,NULL,NULL,NULL),(136677,'Experimental MF/BP Leaf Term GOA',NULL,6199,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:2001199|P:negative regulation of dendritic cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(136678,'Experimental MF/BP Leaf Term GOA',NULL,6200,NULL,'GO:0042500|F:aspartic endopeptidase activity, intramembrane cleaving|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1904211|P:membrane protein proteolysis involved in retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(136679,'Experimental MF/BP Leaf Term GOA',NULL,6207,NULL,'GO:0003860|F:3-hydroxyisobutyryl-CoA hydrolase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136680,'Experimental MF/BP Leaf Term GOA',NULL,6210,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IMP',NULL,NULL,NULL,NULL,NULL),(136681,'Experimental MF/BP Leaf Term GOA',NULL,6216,NULL,'GO:0034080|P:CENP-A containing nucleosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136682,'Experimental MF/BP Leaf Term GOA',NULL,6217,NULL,'GO:0004419|F:hydroxymethylglutaryl-CoA lyase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136683,'Experimental MF/BP Leaf Term GOA',NULL,6221,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0035623|P:renal glucose absorption|IMP',NULL,NULL,NULL,NULL,NULL),(136684,'Experimental MF/BP Leaf Term GOA',NULL,6222,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(136685,'Experimental MF/BP Leaf Term GOA',NULL,6224,NULL,'GO:0035729|P:cellular response to hepatocyte growth factor stimulus|IDA; GO:0048012|P:hepatocyte growth factor receptor signaling pathway|IDA; GO:0090201|P:negative regulation of release of cytochrome c from mitochondria|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0060665|P:regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling|IDA',NULL,NULL,NULL,NULL,NULL),(136686,'Experimental MF/BP Leaf Term GOA',NULL,6225,NULL,'GO:0097108|F:hedgehog family protein binding|IPI; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(136687,'Experimental MF/BP Leaf Term GOA',NULL,6228,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IDA',NULL,NULL,NULL,NULL,NULL),(136688,'Experimental MF/BP Leaf Term GOA',NULL,6239,NULL,'GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA',NULL,NULL,NULL,NULL,NULL),(136689,'Experimental MF/BP Leaf Term GOA',NULL,6240,NULL,'GO:0071889|F:14-3-3 protein binding|IDA; GO:0005080|F:protein kinase C binding|IPI; GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IMP; GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136690,'Experimental MF/BP Leaf Term GOA',NULL,6245,NULL,'GO:0042826|F:histone deacetylase binding|IDA; GO:0005080|F:protein kinase C binding|IPI; GO:0032869|P:cellular response to insulin stimulus|IDA; GO:0034983|P:peptidyl-lysine deacetylation|IDA; GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136691,'Experimental MF/BP Leaf Term GOA',NULL,6248,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0051059|F:NF-kappaB binding|IPI; GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(136692,'Experimental MF/BP Leaf Term GOA',NULL,6250,NULL,'GO:0097690|F:iron channel inhibitor activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0060586|P:multicellular organismal iron ion homeostasis|IMP; GO:1904255|P:negative regulation of iron channel activity|IDA; GO:1904039|P:negative regulation of iron export across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(136693,'Experimental MF/BP Leaf Term GOA',NULL,6251,NULL,'GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(136694,'Experimental MF/BP Leaf Term GOA',NULL,6253,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0043923|P:positive regulation by host of viral transcription|IDA; GO:2000347|P:positive regulation of hepatocyte proliferation|IDA; GO:0010756|P:positive regulation of plasminogen activation|IDA',NULL,NULL,NULL,NULL,NULL),(136695,'Experimental MF/BP Leaf Term GOA',NULL,6254,NULL,'GO:0097322|F:7SK snRNA binding|IDA; GO:0004861|F:cyclin-dependent protein serine/threonine kinase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136696,'Experimental MF/BP Leaf Term GOA',NULL,6267,NULL,'GO:0004852|F:uroporphyrinogen-III synthase activity|IDA; GO:0006780|P:uroporphyrinogen III biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136697,'Experimental MF/BP Leaf Term GOA',NULL,6269,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136698,'Experimental MF/BP Leaf Term GOA',NULL,6272,NULL,'GO:0001618|F:virus receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136699,'Experimental MF/BP Leaf Term GOA',NULL,6273,NULL,'GO:0002519|P:natural killer cell tolerance induction|IMP; GO:0071656|P:negative regulation of granulocyte colony-stimulating factor production|IDA; GO:0030886|P:negative regulation of myeloid dendritic cell activation|IMP; GO:2001189|P:negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|IDA; GO:1904469|P:positive regulation of tumor necrosis factor secretion|IMP',NULL,NULL,NULL,NULL,NULL),(136700,'Experimental MF/BP Leaf Term GOA',NULL,6274,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0001824|P:blastocyst development|IEP; GO:0003218|P:cardiac left ventricle formation|IMP; GO:0003219|P:cardiac right ventricle formation|IMP; GO:1903026|P:negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding|IDA; GO:0001829|P:trophectodermal cell differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(136701,'Experimental MF/BP Leaf Term GOA',NULL,6276,NULL,'GO:0008190|F:eukaryotic initiation factor 4E binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0016973|P:poly(A)+ mRNA export from nucleus|IMP',NULL,NULL,NULL,NULL,NULL),(136702,'Experimental MF/BP Leaf Term GOA',NULL,6281,NULL,'GO:0016934|F:extracellularly glycine-gated chloride channel activity|IDA; GO:0016594|F:glycine binding|IDA; GO:0022852|F:glycine-gated chloride ion channel activity|IDA; GO:0071361|P:cellular response to ethanol|IDA; GO:0071294|P:cellular response to zinc ion|IDA; GO:1902476|P:chloride transmembrane transport|IDA',NULL,NULL,NULL,NULL,NULL),(136703,'Experimental MF/BP Leaf Term GOA',NULL,6284,NULL,'GO:0004653|F:polypeptide N-acetylgalactosaminyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136704,'Experimental MF/BP Leaf Term GOA',NULL,6287,NULL,'GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136705,'Experimental MF/BP Leaf Term GOA',NULL,6291,NULL,'GO:0036006|P:cellular response to macrophage colony-stimulating factor stimulus|IMP; GO:0070102|P:interleukin-6-mediated signaling pathway|IMP; GO:0007260|P:tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(136706,'Experimental MF/BP Leaf Term GOA',NULL,6292,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0005105|F:type 1 fibroblast growth factor receptor binding|IDA; GO:0005111|F:type 2 fibroblast growth factor receptor binding|IDA; GO:0001823|P:mesonephros development|IEP',NULL,NULL,NULL,NULL,NULL),(136707,'Experimental MF/BP Leaf Term GOA',NULL,6293,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(136708,'Experimental MF/BP Leaf Term GOA',NULL,6295,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0090722|F:receptor-receptor interaction|IDA; GO:0001658|P:branching involved in ureteric bud morphogenesis|IDA; GO:0002042|P:cell migration involved in sprouting angiogenesis|IDA; GO:0060591|P:chondroblast differentiation|IDA; GO:0014843|P:growth factor dependent regulation of skeletal muscle satellite cell proliferation|IMP; GO:0030214|P:hyaluronan catabolic process|IDA; GO:0060045|P:positive regulation of cardiac muscle cell proliferation|IDA; GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IDA; GO:2000546|P:positive regulation of endothelial cell chemotaxis to fibroblast growth factor|IDA; GO:1905564|P:positive regulation of vascular endothelial cell proliferation|IGI; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IGI',NULL,NULL,NULL,NULL,NULL),(136709,'Experimental MF/BP Leaf Term GOA',NULL,6300,NULL,'GO:0002151|F:G-quadruplex RNA binding|IDA; GO:0044325|F:ion channel binding|IPI; GO:0035198|F:miRNA binding|IDA; GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:0034046|F:poly(G) binding|IDA; GO:0008266|F:poly(U) RNA binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0033592|F:RNA strand annealing activity|IDA; GO:1990825|F:sequence-specific mRNA binding|IDA; GO:0035197|F:siRNA binding|IDA; GO:0044830|P:modulation by host of viral RNA genome replication|IMP; GO:0033129|P:positive regulation of histone phosphorylation|IDA; GO:1901254|P:positive regulation of intracellular transport of viral material|IMP; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(136710,'Experimental MF/BP Leaf Term GOA',NULL,6301,NULL,'GO:0004660|F:protein farnesyltransferase activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(136711,'Experimental MF/BP Leaf Term GOA',NULL,6308,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136712,'Experimental MF/BP Leaf Term GOA',NULL,6309,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136713,'Experimental MF/BP Leaf Term GOA',NULL,6311,NULL,'GO:0004963|F:follicle-stimulating hormone receptor activity|IDA; GO:0071372|P:cellular response to follicle-stimulating hormone stimulus|IMP; GO:0042699|P:follicle-stimulating hormone signaling pathway|IDA; GO:0008584|P:male gonad development|IEP; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP',NULL,NULL,NULL,NULL,NULL),(136714,'Experimental MF/BP Leaf Term GOA',NULL,6314,NULL,'GO:0048406|F:nerve growth factor binding|IDA; GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA; GO:0032804|P:negative regulation of low-density lipoprotein particle receptor catabolic process|IDA; GO:0032902|P:nerve growth factor production|IDA; GO:1901394|P:positive regulation of transforming growth factor beta1 activation|IDA; GO:0019058|P:viral life cycle|IEP',NULL,NULL,NULL,NULL,NULL),(136715,'Experimental MF/BP Leaf Term GOA',NULL,6317,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136716,'Experimental MF/BP Leaf Term GOA',NULL,6318,NULL,'GO:0031145|P:anaphase-promoting complex-dependent catabolic process|IDA; GO:1904668|P:positive regulation of ubiquitin protein ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136717,'Experimental MF/BP Leaf Term GOA',NULL,6320,NULL,'GO:0001540|F:amyloid-beta binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0042813|F:Wnt-activated receptor activity|IDA; GO:0017147|F:Wnt-protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(136718,'Experimental MF/BP Leaf Term GOA',NULL,6321,NULL,'GO:0004346|F:glucose-6-phosphatase activity|IMP',NULL,NULL,NULL,NULL,NULL),(136719,'Experimental MF/BP Leaf Term GOA',NULL,6322,NULL,'GO:0019828|F:aspartic-type endopeptidase inhibitor activity|IDA; GO:0097718|F:disordered domain specific binding|IPI; GO:0004365|F:glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|EXP; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0071346|P:cellular response to interferon-gamma|IDA',NULL,NULL,NULL,NULL,NULL),(136720,'Experimental MF/BP Leaf Term GOA',NULL,6323,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136721,'Experimental MF/BP Leaf Term GOA',NULL,6324,NULL,'GO:1900745|P:positive regulation of p38MAPK cascade|IDA',NULL,NULL,NULL,NULL,NULL),(136722,'Experimental MF/BP Leaf Term GOA',NULL,6331,NULL,'GO:0004966|F:galanin receptor activity|IMP; GO:0031764|F:type 1 galanin receptor binding|IDA; GO:0031765|F:type 2 galanin receptor binding|IDA; GO:0031766|F:type 3 galanin receptor binding|IDA; GO:1902891|P:negative regulation of root hair elongation|IDA; GO:0051464|P:positive regulation of cortisol secretion|IDA; GO:1902608|P:positive regulation of large conductance calcium-activated potassium channel activity|IDA; GO:0051795|P:positive regulation of timing of catagen|IDA; GO:0010737|P:protein kinase A signaling|IDA',NULL,NULL,NULL,NULL,NULL),(136723,'Experimental MF/BP Leaf Term GOA',NULL,6333,NULL,'GO:0030145|F:manganese ion binding|IDA; GO:0004653|F:polypeptide N-acetylgalactosaminyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136724,'Experimental MF/BP Leaf Term GOA',NULL,6334,NULL,'GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(136725,'Experimental MF/BP Leaf Term GOA',NULL,6336,NULL,'GO:1990172|P:G protein-coupled receptor catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(136726,'Experimental MF/BP Leaf Term GOA',NULL,6337,NULL,'GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(136727,'Experimental MF/BP Leaf Term GOA',NULL,6340,NULL,'GO:0070888|F:E-box binding|IDA; GO:0071837|F:HMG box domain binding|IPI; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IMP; GO:0035457|P:cellular response to interferon-alpha|IEP; GO:0071353|P:cellular response to interleukin-4|IEP; GO:0071356|P:cellular response to tumor necrosis factor|IEP; GO:0043583|P:ear development|IMP; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IMP; GO:0033600|P:negative regulation of mammary gland epithelial cell proliferation|IDA; GO:2000667|P:positive regulation of interleukin-13 secretion|IDA; GO:2000664|P:positive regulation of interleukin-5 secretion|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IMP; GO:2000611|P:positive regulation of thyroid hormone generation|IMP',NULL,NULL,NULL,NULL,NULL),(136728,'Experimental MF/BP Leaf Term GOA',NULL,6345,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0048009|P:insulin-like growth factor receptor signaling pathway|IMP; GO:0040018|P:positive regulation of multicellular organism growth|IMP',NULL,NULL,NULL,NULL,NULL),(136729,'Experimental MF/BP Leaf Term GOA',NULL,6346,NULL,'GO:0001616|F:growth hormone secretagogue receptor activity|IDA; GO:0016520|F:growth hormone-releasing hormone receptor activity|IDA; GO:0046697|P:decidualization|IDA; GO:0045409|P:negative regulation of interleukin-6 biosynthetic process|IDA; GO:0042536|P:negative regulation of tumor necrosis factor biosynthetic process|IDA; GO:0040018|P:positive regulation of multicellular organism growth|IMP',NULL,NULL,NULL,NULL,NULL),(136730,'Experimental MF/BP Leaf Term GOA',NULL,6352,NULL,'GO:1905224|P:clathrin-coated pit assembly|IMP; GO:0090160|P:Golgi to lysosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(136731,'Experimental MF/BP Leaf Term GOA',NULL,6354,NULL,'GO:0004951|F:cholecystokinin receptor activity|IDA; GO:0015054|F:gastrin receptor activity|IDA; GO:0031741|F:type B gastrin/cholecystokinin receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(136732,'Experimental MF/BP Leaf Term GOA',NULL,6360,NULL,'GO:0036505|F:prosaposin receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136733,'Experimental MF/BP Leaf Term GOA',NULL,6362,NULL,'GO:0004346|F:glucose-6-phosphatase activity|IDA; GO:0042301|F:phosphate ion binding|IMP; GO:0006094|P:gluconeogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136734,'Experimental MF/BP Leaf Term GOA',NULL,6365,NULL,'GO:0030731|F:guanidinoacetate N-methyltransferase activity|IMP; GO:0006601|P:creatine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136735,'Experimental MF/BP Leaf Term GOA',NULL,6367,NULL,'GO:0030145|F:manganese ion binding|IDA; GO:0004653|F:polypeptide N-acetylgalactosaminyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136736,'Experimental MF/BP Leaf Term GOA',NULL,6371,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IDA; GO:0001786|F:phosphatidylserine binding|IDA; GO:0043277|P:apoptotic cell clearance|IDA; GO:0035457|P:cellular response to interferon-alpha|IDA; GO:0071307|P:cellular response to vitamin K|IDA; GO:0097241|P:hematopoietic stem cell migration to bone marrow|IDA; GO:2000669|P:negative regulation of dendritic cell apoptotic process|IDA; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IDA; GO:2000270|P:negative regulation of fibroblast apoptotic process|IDA; GO:1900165|P:negative regulation of interleukin-6 secretion|IDA; GO:1900142|P:negative regulation of oligodendrocyte apoptotic process|IDA; GO:0033159|P:negative regulation of protein import into nucleus, translocation|IDA; GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:0043491|P:protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(136737,'Experimental MF/BP Leaf Term GOA',NULL,6373,NULL,'GO:0033691|F:sialic acid binding|IDA; GO:0002752|P:cell surface pattern recognition receptor signaling pathway|IMP; GO:2000484|P:positive regulation of interleukin-8 secretion|IMP; GO:0034394|P:protein localization to cell surface|IDA; GO:0043654|P:recognition of apoptotic cell|IDA',NULL,NULL,NULL,NULL,NULL),(136738,'Experimental MF/BP Leaf Term GOA',NULL,6376,NULL,'GO:0070858|P:negative regulation of bile acid biosynthetic process|IDA; GO:0046326|P:positive regulation of glucose import|IDA',NULL,NULL,NULL,NULL,NULL),(136739,'Experimental MF/BP Leaf Term GOA',NULL,6378,NULL,'GO:1902902|P:negative regulation of autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136740,'Experimental MF/BP Leaf Term GOA',NULL,6380,NULL,'GO:0048185|F:activin binding|IPI; GO:0005528|F:FK506 binding|IDA; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA; GO:1990000|P:amyloid fibril formation|IDA; GO:0007183|P:SMAD protein complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136741,'Experimental MF/BP Leaf Term GOA',NULL,6381,NULL,'GO:0019855|F:calcium channel inhibitor activity|IDA; GO:0005528|F:FK506 binding|IDA; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA; GO:0060315|P:negative regulation of ryanodine-sensitive calcium-release channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(136742,'Experimental MF/BP Leaf Term GOA',NULL,6382,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IMP',NULL,NULL,NULL,NULL,NULL),(136743,'Experimental MF/BP Leaf Term GOA',NULL,6391,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(136744,'Experimental MF/BP Leaf Term GOA',NULL,6393,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0034246|F:mitochondrial sequence-specific DNA-binding transcription factor activity|IMP',NULL,NULL,NULL,NULL,NULL),(136745,'Experimental MF/BP Leaf Term GOA',NULL,6396,NULL,'GO:0005545|F:1-phosphatidylinositol binding|IDA; GO:0070830|P:bicellular tight junction assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136746,'Experimental MF/BP Leaf Term GOA',NULL,6397,NULL,'GO:0043734|F:DNA-N1-methyladenine dioxygenase activity|IDA; GO:0008198|F:ferrous iron binding|IDA; GO:0035516|F:oxidative DNA demethylase activity|IDA; GO:1990931|F:RNA N6-methyladenosine dioxygenase activity|IMP; GO:0006307|P:DNA dealkylation involved in DNA repair|IDA; GO:0035552|P:oxidative single-stranded DNA demethylation|IDA; GO:0035553|P:oxidative single-stranded RNA demethylation|IDA; GO:0042245|P:RNA repair|IDA',NULL,NULL,NULL,NULL,NULL),(136747,'Experimental MF/BP Leaf Term GOA',NULL,6403,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0042813|F:Wnt-activated receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136748,'Experimental MF/BP Leaf Term GOA',NULL,6404,NULL,'GO:0030219|P:megakaryocyte differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(136749,'Experimental MF/BP Leaf Term GOA',NULL,6416,NULL,'GO:0035925|F:mRNA 3\'-UTR AU-rich region binding|IDA; GO:0061158|P:3\'-UTR-mediated mRNA destabilization|IDA; GO:0010989|P:negative regulation of low-density lipoprotein particle clearance|IGI; GO:0045019|P:negative regulation of nitric oxide biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136750,'Experimental MF/BP Leaf Term GOA',NULL,6419,NULL,'GO:0046982|F:protein heterodimerization activity|IMP; GO:0071360|P:cellular response to exogenous dsRNA|IMP; GO:0033227|P:dsRNA transport|IMP; GO:0022617|P:extracellular matrix disassembly|IMP; GO:0060355|P:positive regulation of cell adhesion molecule production|IMP; GO:2000049|P:positive regulation of cell-cell adhesion mediated by cadherin|IMP; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IMP; GO:1901741|P:positive regulation of myoblast fusion|IMP; GO:0034141|P:positive regulation of toll-like receptor 3 signaling pathway|IMP; GO:0070528|P:protein kinase C signaling|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136751,'Experimental MF/BP Leaf Term GOA',NULL,6423,NULL,'GO:0060022|P:hard palate development|IMP; GO:0060465|P:pharynx development|IEP; GO:0060023|P:soft palate development|IMP; GO:0048538|P:thymus development|IEP; GO:0030878|P:thyroid gland development|IMP',NULL,NULL,NULL,NULL,NULL),(136752,'Experimental MF/BP Leaf Term GOA',NULL,6425,NULL,'GO:0051537|F:2 iron, 2 sulfur cluster binding|IDA; GO:0008199|F:ferric iron binding|IDA; GO:0008198|F:ferrous iron binding|IDA; GO:0004322|F:ferroxidase activity|IDA; GO:0034986|F:iron chaperone activity|IDA; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0090201|P:negative regulation of release of cytochrome c from mitochondria|IMP; GO:1904234|P:positive regulation of aconitate hydratase activity|IMP; GO:1904231|P:positive regulation of succinate dehydrogenase activity|IMP; GO:0016540|P:protein autoprocessing|IDA; GO:0010722|P:regulation of ferrochelatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136753,'Experimental MF/BP Leaf Term GOA',NULL,6426,NULL,'GO:0005124|F:scavenger receptor binding|IPI; GO:1904646|P:cellular response to amyloid-beta|IDA; GO:0090026|P:positive regulation of monocyte chemotaxis|IGI',NULL,NULL,NULL,NULL,NULL),(136754,'Experimental MF/BP Leaf Term GOA',NULL,6430,NULL,'GO:0048185|F:activin binding|IPI',NULL,NULL,NULL,NULL,NULL),(136755,'Experimental MF/BP Leaf Term GOA',NULL,6433,NULL,'GO:0004333|F:fumarate hydratase activity|EXP',NULL,NULL,NULL,NULL,NULL),(136756,'Experimental MF/BP Leaf Term GOA',NULL,6438,NULL,'GO:0000086|P:G2/M transition of mitotic cell cycle|IMP; GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136757,'Experimental MF/BP Leaf Term GOA',NULL,6440,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136758,'Experimental MF/BP Leaf Term GOA',NULL,6447,NULL,'GO:0047710|F:bis(5\'-adenosyl)-triphosphatase activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136759,'Experimental MF/BP Leaf Term GOA',NULL,6450,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(136760,'Experimental MF/BP Leaf Term GOA',NULL,6451,NULL,'GO:0017134|F:fibroblast growth factor binding|IPI; GO:0008201|F:heparin binding|IDA; GO:0043117|P:positive regulation of vascular permeability|IDA',NULL,NULL,NULL,NULL,NULL),(136761,'Experimental MF/BP Leaf Term GOA',NULL,6453,NULL,'GO:0090722|F:receptor-receptor interaction|IDA',NULL,NULL,NULL,NULL,NULL),(136762,'Experimental MF/BP Leaf Term GOA',NULL,6456,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136763,'Experimental MF/BP Leaf Term GOA',NULL,6457,NULL,'GO:0033615|P:mitochondrial proton-transporting ATP synthase complex assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136764,'Experimental MF/BP Leaf Term GOA',NULL,6458,NULL,'GO:0004499|F:N,N-dimethylaniline monooxygenase activity|IDA; GO:0070995|P:NADPH oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(136765,'Experimental MF/BP Leaf Term GOA',NULL,6462,NULL,'GO:0005524|F:ATP binding|IDA; GO:0051087|F:chaperone binding|IDA; GO:0030544|F:Hsp70 protein binding|IPI; GO:0070733|F:protein adenylyltransferase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136766,'Experimental MF/BP Leaf Term GOA',NULL,6463,NULL,'GO:0017134|F:fibroblast growth factor binding|IDA; GO:0005007|F:fibroblast growth factor-activated receptor activity|IDA; GO:0008201|F:heparin binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0090722|F:receptor-receptor interaction|IDA; GO:2000546|P:positive regulation of endothelial cell chemotaxis to fibroblast growth factor|IDA; GO:1905564|P:positive regulation of vascular endothelial cell proliferation|IGI',NULL,NULL,NULL,NULL,NULL),(136767,'Experimental MF/BP Leaf Term GOA',NULL,6464,NULL,'GO:0061436|P:establishment of skin barrier|IEP',NULL,NULL,NULL,NULL,NULL),(136768,'Experimental MF/BP Leaf Term GOA',NULL,6467,NULL,'GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136769,'Experimental MF/BP Leaf Term GOA',NULL,6470,NULL,'GO:0034988|F:Fc-gamma receptor I complex binding|IDA; GO:0044325|F:ion channel binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0051764|P:actin crosslink formation|IDA; GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0007195|P:adenylate cyclase-inhibiting dopamine receptor signaling pathway|IMP; GO:0090307|P:mitotic spindle assembly|IDA; GO:2001046|P:positive regulation of integrin-mediated signaling pathway|IMP; GO:0042307|P:positive regulation of protein import into nucleus|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP; GO:0034394|P:protein localization to cell surface|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136770,'Experimental MF/BP Leaf Term GOA',NULL,6473,NULL,'GO:0071456|P:cellular response to hypoxia|IMP; GO:0070649|P:formin-nucleated actin cable assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136771,'Experimental MF/BP Leaf Term GOA',NULL,6474,NULL,'GO:0032794|F:GTPase activating protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(136772,'Experimental MF/BP Leaf Term GOA',NULL,6482,NULL,'GO:0001867|P:complement activation, lectin pathway|IDA; GO:0043654|P:recognition of apoptotic cell|IDA',NULL,NULL,NULL,NULL,NULL),(136773,'Experimental MF/BP Leaf Term GOA',NULL,6485,NULL,'GO:0097320|P:plasma membrane tubulation|IDA; GO:0051491|P:positive regulation of filopodium assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136774,'Experimental MF/BP Leaf Term GOA',NULL,6486,NULL,'GO:0031867|F:EP4 subtype prostaglandin E2 receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(136775,'Experimental MF/BP Leaf Term GOA',NULL,6488,NULL,'GO:0060591|P:chondroblast differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(136776,'Experimental MF/BP Leaf Term GOA',NULL,6489,NULL,'GO:0017134|F:fibroblast growth factor binding|IDA; GO:0005007|F:fibroblast growth factor-activated receptor activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0048701|P:embryonic cranial skeleton morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136777,'Experimental MF/BP Leaf Term GOA',NULL,6490,NULL,'GO:0008584|P:male gonad development|IEP; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IGI',NULL,NULL,NULL,NULL,NULL),(136778,'Experimental MF/BP Leaf Term GOA',NULL,6492,NULL,'GO:0017134|F:fibroblast growth factor binding|IDA; GO:0005007|F:fibroblast growth factor-activated receptor activity|IDA; GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(136779,'Experimental MF/BP Leaf Term GOA',NULL,6495,NULL,'GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136780,'Experimental MF/BP Leaf Term GOA',NULL,6499,NULL,'GO:0046982|F:protein heterodimerization activity|IMP; GO:1903905|P:positive regulation of establishment of T cell polarity|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136781,'Experimental MF/BP Leaf Term GOA',NULL,6501,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0004660|F:protein farnesyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136782,'Experimental MF/BP Leaf Term GOA',NULL,6502,NULL,'GO:0051087|F:chaperone binding|IDA',NULL,NULL,NULL,NULL,NULL),(136783,'Experimental MF/BP Leaf Term GOA',NULL,6507,NULL,'GO:0044528|P:regulation of mitochondrial mRNA stability|IMP',NULL,NULL,NULL,NULL,NULL),(136784,'Experimental MF/BP Leaf Term GOA',NULL,6509,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136785,'Experimental MF/BP Leaf Term GOA',NULL,6511,NULL,'GO:0072429|P:response to intra-S DNA damage checkpoint signaling|IMP',NULL,NULL,NULL,NULL,NULL),(136786,'Experimental MF/BP Leaf Term GOA',NULL,6512,NULL,'GO:0036312|F:phosphatidylinositol 3-kinase regulatory subunit binding|IPI; GO:0044830|P:modulation by host of viral RNA genome replication|IMP; GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136787,'Experimental MF/BP Leaf Term GOA',NULL,6513,NULL,'GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136788,'Experimental MF/BP Leaf Term GOA',NULL,6516,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0031648|P:protein destabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136789,'Experimental MF/BP Leaf Term GOA',NULL,6518,NULL,'GO:0030332|F:cyclin binding|IDA; GO:0050816|F:phosphothreonine residue binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0032876|P:negative regulation of DNA endoreduplication|IMP; GO:2001205|P:negative regulation of osteoclast development|IMP; GO:0045741|P:positive regulation of epidermal growth factor-activated receptor activity|IDA; GO:1903378|P:positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway|IDA; GO:0050821|P:protein stabilization|IDA; GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136790,'Experimental MF/BP Leaf Term GOA',NULL,6519,NULL,'GO:0050859|P:negative regulation of B cell receptor signaling pathway|IDA; GO:0030890|P:positive regulation of B cell proliferation|IDA; GO:1905184|P:positive regulation of protein serine/threonine phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136791,'Experimental MF/BP Leaf Term GOA',NULL,6521,NULL,'GO:2000251|P:positive regulation of actin cytoskeleton reorganization|IMP',NULL,NULL,NULL,NULL,NULL),(136792,'Experimental MF/BP Leaf Term GOA',NULL,6523,NULL,'GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0051549|P:positive regulation of keratinocyte migration|IDA; GO:0010838|P:positive regulation of keratinocyte proliferation|IDA; GO:0034394|P:protein localization to cell surface|IDA; GO:0061033|P:secretion by lung epithelial cell involved in lung growth|IDA',NULL,NULL,NULL,NULL,NULL),(136793,'Experimental MF/BP Leaf Term GOA',NULL,6525,NULL,'GO:0070885|P:negative regulation of calcineurin-NFAT signaling cascade|IMP',NULL,NULL,NULL,NULL,NULL),(136794,'Experimental MF/BP Leaf Term GOA',NULL,6526,NULL,'GO:0021983|P:pituitary gland development|IMP',NULL,NULL,NULL,NULL,NULL),(136795,'Experimental MF/BP Leaf Term GOA',NULL,6528,NULL,'GO:0046326|P:positive regulation of glucose import|IDA',NULL,NULL,NULL,NULL,NULL),(136796,'Experimental MF/BP Leaf Term GOA',NULL,6531,NULL,'GO:0008061|F:chitin binding|IDA',NULL,NULL,NULL,NULL,NULL),(136797,'Experimental MF/BP Leaf Term GOA',NULL,6534,NULL,'GO:0019862|F:IgA binding|IDA; GO:0097011|P:cellular response to granulocyte macrophage colony-stimulating factor stimulus|IDA; GO:0035457|P:cellular response to interferon-alpha|IDA; GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0071354|P:cellular response to interleukin-6|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0033031|P:positive regulation of neutrophil apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(136798,'Experimental MF/BP Leaf Term GOA',NULL,6545,NULL,'GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136799,'Experimental MF/BP Leaf Term GOA',NULL,6547,NULL,'GO:0008201|F:heparin binding|IDA; GO:0034199|P:activation of protein kinase A activity|IDA; GO:2001205|P:negative regulation of osteoclast development|IDA; GO:0010737|P:protein kinase A signaling|IDA',NULL,NULL,NULL,NULL,NULL),(136800,'Experimental MF/BP Leaf Term GOA',NULL,6549,NULL,'GO:0017108|F:5\'-flap endonuclease activity|IDA; GO:0004523|F:RNA-DNA hybrid ribonuclease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136801,'Experimental MF/BP Leaf Term GOA',NULL,6556,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002227|P:innate immune response in mucosa|IDA',NULL,NULL,NULL,NULL,NULL),(136802,'Experimental MF/BP Leaf Term GOA',NULL,6560,NULL,'GO:0080019|F:fatty-acyl-CoA reductase (alcohol-forming) activity|IDA',NULL,NULL,NULL,NULL,NULL),(136803,'Experimental MF/BP Leaf Term GOA',NULL,6562,NULL,'GO:0008022|F:protein C-terminus binding|IMP; GO:0042976|P:activation of Janus kinase activity|IMP; GO:0071300|P:cellular response to retinoic acid|IMP; GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:0038083|P:peptidyl-tyrosine autophosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(136804,'Experimental MF/BP Leaf Term GOA',NULL,6572,NULL,'GO:0031005|F:filamin binding|IDA',NULL,NULL,NULL,NULL,NULL),(136805,'Experimental MF/BP Leaf Term GOA',NULL,6573,NULL,'GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136806,'Experimental MF/BP Leaf Term GOA',NULL,6577,NULL,'GO:0004314|F:[acyl-carrier-protein] S-malonyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136807,'Experimental MF/BP Leaf Term GOA',NULL,6582,NULL,'GO:0097677|F:STAT family protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(136808,'Experimental MF/BP Leaf Term GOA',NULL,6586,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(136809,'Experimental MF/BP Leaf Term GOA',NULL,6587,NULL,'GO:0044528|P:regulation of mitochondrial mRNA stability|IMP',NULL,NULL,NULL,NULL,NULL),(136810,'Experimental MF/BP Leaf Term GOA',NULL,6588,NULL,'GO:0016322|P:neuron remodeling|IDA; GO:0016601|P:Rac protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(136811,'Experimental MF/BP Leaf Term GOA',NULL,6595,NULL,'GO:0051546|P:keratinocyte migration|IDA; GO:0043616|P:keratinocyte proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(136812,'Experimental MF/BP Leaf Term GOA',NULL,6596,NULL,'GO:0044325|F:ion channel binding|IPI; GO:1903071|P:positive regulation of ER-associated ubiquitin-dependent protein catabolic process|IDA; GO:0030970|P:retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(136813,'Experimental MF/BP Leaf Term GOA',NULL,6597,NULL,'GO:0017064|F:fatty acid amide hydrolase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136814,'Experimental MF/BP Leaf Term GOA',NULL,6599,NULL,'GO:0019732|P:antifungal humoral response|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:1905035|P:negative regulation of antifungal innate immune response|IDA',NULL,NULL,NULL,NULL,NULL),(136815,'Experimental MF/BP Leaf Term GOA',NULL,6604,NULL,'GO:0070051|F:fibrinogen binding|IPI; GO:0001968|F:fibronectin binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0072378|P:blood coagulation, fibrin clot formation|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:1900025|P:negative regulation of substrate adhesion-dependent cell spreading|IDA; GO:1904188|P:negative regulation of transformation of host cell by virus|IMP; GO:2001202|P:negative regulation of transforming growth factor-beta secretion|IDA; GO:1904237|P:positive regulation of substrate-dependent cell migration, cell attachment to substrate|IDA',NULL,NULL,NULL,NULL,NULL),(136816,'Experimental MF/BP Leaf Term GOA',NULL,6605,NULL,'GO:0019864|F:IgG binding|IDA',NULL,NULL,NULL,NULL,NULL),(136817,'Experimental MF/BP Leaf Term GOA',NULL,6607,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP; GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136818,'Experimental MF/BP Leaf Term GOA',NULL,6608,NULL,'GO:0010997|F:anaphase-promoting complex binding|IDA; GO:1990948|F:ubiquitin ligase inhibitor activity|IDA; GO:2000773|P:negative regulation of cellular senescence|IMP; GO:0032876|P:negative regulation of DNA endoreduplication|IMP; GO:1904667|P:negative regulation of ubiquitin protein ligase activity|IDA; GO:1905322|P:positive regulation of mesenchymal stem cell migration|IMP',NULL,NULL,NULL,NULL,NULL),(136819,'Experimental MF/BP Leaf Term GOA',NULL,6616,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136820,'Experimental MF/BP Leaf Term GOA',NULL,6617,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(136821,'Experimental MF/BP Leaf Term GOA',NULL,6618,NULL,'GO:0017134|F:fibroblast growth factor binding|IDA; GO:0005007|F:fibroblast growth factor-activated receptor activity|IMP; GO:1902178|P:fibroblast growth factor receptor apoptotic signaling pathway|IMP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(136822,'Experimental MF/BP Leaf Term GOA',NULL,6619,NULL,'GO:1903589|P:positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IDA; GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IDA',NULL,NULL,NULL,NULL,NULL),(136823,'Experimental MF/BP Leaf Term GOA',NULL,6620,NULL,'GO:1902902|P:negative regulation of autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136824,'Experimental MF/BP Leaf Term GOA',NULL,6623,NULL,'GO:0008201|F:heparin binding|IDA; GO:0007254|P:JNK cascade|IPI',NULL,NULL,NULL,NULL,NULL),(136825,'Experimental MF/BP Leaf Term GOA',NULL,6624,NULL,'GO:0019150|F:D-ribulokinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136826,'Experimental MF/BP Leaf Term GOA',NULL,6625,NULL,'GO:0035269|P:protein O-linked mannosylation|IMP',NULL,NULL,NULL,NULL,NULL),(136827,'Experimental MF/BP Leaf Term GOA',NULL,6628,NULL,'GO:0071586|P:CAAX-box protein processing|IMP',NULL,NULL,NULL,NULL,NULL),(136828,'Experimental MF/BP Leaf Term GOA',NULL,6630,NULL,'GO:0000712|P:resolution of meiotic recombination intermediates|IMP',NULL,NULL,NULL,NULL,NULL),(136829,'Experimental MF/BP Leaf Term GOA',NULL,6632,NULL,'GO:1902775|P:mitochondrial large ribosomal subunit assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136830,'Experimental MF/BP Leaf Term GOA',NULL,6640,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0031145|P:anaphase-promoting complex-dependent catabolic process|IMP; GO:0031571|P:mitotic G1 DNA damage checkpoint|IMP; GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136831,'Experimental MF/BP Leaf Term GOA',NULL,6641,NULL,'GO:0031648|P:protein destabilization|IMP; GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136832,'Experimental MF/BP Leaf Term GOA',NULL,6642,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0006626|P:protein targeting to mitochondrion|IMP',NULL,NULL,NULL,NULL,NULL),(136833,'Experimental MF/BP Leaf Term GOA',NULL,6644,NULL,'GO:0001530|F:lipopolysaccharide binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002227|P:innate immune response in mucosa|IDA; GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136834,'Experimental MF/BP Leaf Term GOA',NULL,6646,NULL,'GO:0051000|P:positive regulation of nitric-oxide synthase activity|IDA; GO:0051770|P:positive regulation of nitric-oxide synthase biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136835,'Experimental MF/BP Leaf Term GOA',NULL,6649,NULL,'GO:0042803|F:protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(136836,'Experimental MF/BP Leaf Term GOA',NULL,6651,NULL,'GO:2001065|F:mannan binding|IDA; GO:0001867|P:complement activation, lectin pathway|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0008228|P:opsonization|IDA; GO:0043654|P:recognition of apoptotic cell|IDA',NULL,NULL,NULL,NULL,NULL),(136837,'Experimental MF/BP Leaf Term GOA',NULL,6655,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:2000974|P:negative regulation of pro-B cell differentiation|IMP; GO:0097150|P:neuronal stem cell population maintenance|IEP',NULL,NULL,NULL,NULL,NULL),(136838,'Experimental MF/BP Leaf Term GOA',NULL,6656,NULL,'GO:0034988|F:Fc-gamma receptor I complex binding|IDA; GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP',NULL,NULL,NULL,NULL,NULL),(136839,'Experimental MF/BP Leaf Term GOA',NULL,6657,NULL,'GO:0005105|F:type 1 fibroblast growth factor receptor binding|IDA; GO:0005111|F:type 2 fibroblast growth factor receptor binding|IDA; GO:2000546|P:positive regulation of endothelial cell chemotaxis to fibroblast growth factor|IDA',NULL,NULL,NULL,NULL,NULL),(136840,'Experimental MF/BP Leaf Term GOA',NULL,6658,NULL,'GO:0072377|P:blood coagulation, common pathway|IMP; GO:0072378|P:blood coagulation, fibrin clot formation|IDA; GO:0042730|P:fibrinolysis|IDA; GO:0043152|P:induction of bacterial agglutination|IDA; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IDA; GO:0070527|P:platelet aggregation|IDA; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(136841,'Experimental MF/BP Leaf Term GOA',NULL,6659,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0008201|F:heparin binding|IDA; GO:0044548|F:S100 protein binding|IPI; GO:0032148|P:activation of protein kinase B activity|IMP; GO:0060681|P:branch elongation involved in ureteric bud branching|IDA; GO:0045542|P:positive regulation of cholesterol biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136842,'Experimental MF/BP Leaf Term GOA',NULL,6660,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0008201|F:heparin binding|IDA; GO:0005111|F:type 2 fibroblast growth factor receptor binding|IPI; GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0060447|P:bud outgrowth involved in lung branching|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IDA; GO:0060595|P:fibroblast growth factor receptor signaling pathway involved in mammary gland specification|IDA; GO:0032808|P:lacrimal gland development|IMP; GO:0060430|P:lung saccule development|IMP; GO:0001823|P:mesonephros development|IEP; GO:0071157|P:negative regulation of cell cycle arrest|IDA; GO:0071338|P:positive regulation of hair follicle cell proliferation|IDA; GO:0051549|P:positive regulation of keratinocyte migration|IDA; GO:0010838|P:positive regulation of keratinocyte proliferation|IDA; GO:0050677|P:positive regulation of urothelial cell proliferation|IDA; GO:0034394|P:protein localization to cell surface|IDA; GO:0007431|P:salivary gland development|IMP; GO:0061033|P:secretion by lung epithelial cell involved in lung growth|IDA; GO:0070075|P:tear secretion|IMP; GO:0048538|P:thymus development|IDA; GO:0050674|P:urothelial cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(136843,'Experimental MF/BP Leaf Term GOA',NULL,6667,NULL,'GO:0070885|P:negative regulation of calcineurin-NFAT signaling cascade|IMP',NULL,NULL,NULL,NULL,NULL),(136844,'Experimental MF/BP Leaf Term GOA',NULL,6668,NULL,'GO:0018312|P:peptidyl-serine ADP-ribosylation|IDA',NULL,NULL,NULL,NULL,NULL),(136845,'Experimental MF/BP Leaf Term GOA',NULL,6669,NULL,'GO:1903232|P:melanosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136846,'Experimental MF/BP Leaf Term GOA',NULL,6671,NULL,'GO:0070292|P:N-acylphosphatidylethanolamine metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136847,'Experimental MF/BP Leaf Term GOA',NULL,6673,NULL,'GO:0020037|F:heme binding|IDA; GO:0043395|F:heparan sulfate proteoglycan binding|IDA; GO:0008201|F:heparin binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0010593|P:negative regulation of lamellipodium assembly|IDA; GO:1900747|P:negative regulation of vascular endothelial growth factor signaling pathway|IDA; GO:0030168|P:platelet activation|IDA; GO:0051894|P:positive regulation of focal adhesion assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136848,'Experimental MF/BP Leaf Term GOA',NULL,6675,NULL,'GO:0051082|F:unfolded protein binding|IDA; GO:0042026|P:protein refolding|IDA',NULL,NULL,NULL,NULL,NULL),(136849,'Experimental MF/BP Leaf Term GOA',NULL,6677,NULL,'GO:0044183|F:protein binding involved in protein folding|IMP; GO:0042803|F:protein homodimerization activity|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IMP; GO:0038033|P:positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136850,'Experimental MF/BP Leaf Term GOA',NULL,6680,NULL,'GO:0021599|P:abducens nerve formation|IMP; GO:0090102|P:cochlea development|IMP; GO:0090103|P:cochlea morphogenesis|IMP; GO:0048702|P:embryonic neurocranium morphogenesis|IMP; GO:0042473|P:outer ear morphogenesis|IDA; GO:0060876|P:semicircular canal formation|IMP; GO:0007605|P:sensory perception of sound|IDA',NULL,NULL,NULL,NULL,NULL),(136851,'Experimental MF/BP Leaf Term GOA',NULL,6682,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136852,'Experimental MF/BP Leaf Term GOA',NULL,6683,NULL,'GO:0042834|F:peptidoglycan binding|IDA; GO:0072656|P:maintenance of protein location in mitochondrion|IMP',NULL,NULL,NULL,NULL,NULL),(136853,'Experimental MF/BP Leaf Term GOA',NULL,6686,NULL,'GO:0005524|F:ATP binding|IDA; GO:0004340|F:glucokinase activity|IDA; GO:0005536|F:glucose binding|IDA; GO:0051594|P:detection of glucose|IMP; GO:0045721|P:negative regulation of gluconeogenesis|IMP; GO:0045725|P:positive regulation of glycogen biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(136854,'Experimental MF/BP Leaf Term GOA',NULL,6688,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0007596|P:blood coagulation|IDA',NULL,NULL,NULL,NULL,NULL),(136855,'Experimental MF/BP Leaf Term GOA',NULL,6690,NULL,'GO:0047988|F:hydroxyacid-oxoacid transhydrogenase activity|IDA; GO:0006539|P:glutamate catabolic process via 2-oxoglutarate|IDA',NULL,NULL,NULL,NULL,NULL),(136856,'Experimental MF/BP Leaf Term GOA',NULL,6691,NULL,'GO:0071277|P:cellular response to calcium ion|IMP',NULL,NULL,NULL,NULL,NULL),(136857,'Experimental MF/BP Leaf Term GOA',NULL,6694,NULL,'GO:0003868|F:4-hydroxyphenylpyruvate dioxygenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(136858,'Experimental MF/BP Leaf Term GOA',NULL,6707,NULL,'GO:0001205|F:distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(136859,'Experimental MF/BP Leaf Term GOA',NULL,6710,NULL,'GO:0097039|P:protein linear polyubiquitination|IDA; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136860,'Experimental MF/BP Leaf Term GOA',NULL,6715,NULL,'GO:0043395|F:heparan sulfate proteoglycan binding|IDA',NULL,NULL,NULL,NULL,NULL),(136861,'Experimental MF/BP Leaf Term GOA',NULL,6716,NULL,'GO:0008970|F:phospholipase A1 activity|IDA',NULL,NULL,NULL,NULL,NULL),(136862,'Experimental MF/BP Leaf Term GOA',NULL,6718,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051082|F:unfolded protein binding|IDA; GO:0042026|P:protein refolding|IDA',NULL,NULL,NULL,NULL,NULL),(136863,'Experimental MF/BP Leaf Term GOA',NULL,6720,NULL,'GO:0008467|F:[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|IDA; GO:0015015|P:heparan sulfate proteoglycan biosynthetic process, enzymatic modification|IDA',NULL,NULL,NULL,NULL,NULL),(136864,'Experimental MF/BP Leaf Term GOA',NULL,6722,NULL,'GO:0097718|F:disordered domain specific binding|IPI; GO:0051082|F:unfolded protein binding|IDA; GO:0042026|P:protein refolding|IDA',NULL,NULL,NULL,NULL,NULL),(136865,'Experimental MF/BP Leaf Term GOA',NULL,6724,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0051082|F:unfolded protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(136866,'Experimental MF/BP Leaf Term GOA',NULL,6725,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:1905337|P:positive regulation of aggrephagy|IMP',NULL,NULL,NULL,NULL,NULL),(136867,'Experimental MF/BP Leaf Term GOA',NULL,6731,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP',NULL,NULL,NULL,NULL,NULL),(136868,'Experimental MF/BP Leaf Term GOA',NULL,6737,NULL,'GO:0051879|F:Hsp90 protein binding|IDA; GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0001162|F:RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding|IDA; GO:0061770|F:translation elongation factor binding|IDA; GO:0071276|P:cellular response to cadmium ion|IDA; GO:0071280|P:cellular response to copper ion|IDA; GO:0072738|P:cellular response to diamide|IDA; GO:0071480|P:cellular response to gamma radiation|IDA; GO:1903936|P:cellular response to sodium arsenite|IDA; GO:2001033|P:negative regulation of double-strand break repair via nonhomologous end joining|IMP; GO:1900365|P:positive regulation of mRNA polyadenylation|IMP; GO:0061408|P:positive regulation of transcription from RNA polymerase II promoter in response to heat stress|IDA; GO:0070207|P:protein homotrimerization|IDA; GO:0043497|P:regulation of protein heterodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(136869,'Experimental MF/BP Leaf Term GOA',NULL,6752,NULL,'GO:0060218|P:hematopoietic stem cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(136870,'Experimental MF/BP Leaf Term GOA',NULL,6755,NULL,'GO:0033906|F:hyaluronoglucuronidase activity|IDA; GO:0004415|F:hyalurononglucosaminidase activity|IDA; GO:0071347|P:cellular response to interleukin-1|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IEP; GO:0071493|P:cellular response to UV-B|IDA; GO:0030214|P:hyaluronan catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136871,'Experimental MF/BP Leaf Term GOA',NULL,6757,NULL,'GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0042104|P:positive regulation of activated T cell proliferation|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IDA',NULL,NULL,NULL,NULL,NULL),(136872,'Experimental MF/BP Leaf Term GOA',NULL,6761,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136873,'Experimental MF/BP Leaf Term GOA',NULL,6762,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0045716|P:positive regulation of low-density lipoprotein particle receptor biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(136874,'Experimental MF/BP Leaf Term GOA',NULL,6765,NULL,'GO:0020037|F:heme binding|IDA',NULL,NULL,NULL,NULL,NULL),(136875,'Experimental MF/BP Leaf Term GOA',NULL,6767,NULL,'GO:0051131|P:chaperone-mediated protein complex assembly|IDA; GO:0045040|P:protein import into mitochondrial outer membrane|IDA',NULL,NULL,NULL,NULL,NULL),(136876,'Experimental MF/BP Leaf Term GOA',NULL,6774,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136877,'Experimental MF/BP Leaf Term GOA',NULL,6779,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136878,'Experimental MF/BP Leaf Term GOA',NULL,6781,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136879,'Experimental MF/BP Leaf Term GOA',NULL,6785,NULL,'GO:0042007|F:interleukin-18 binding|IDA; GO:0042088|P:T-helper 1 type immune response|IDA',NULL,NULL,NULL,NULL,NULL),(136880,'Experimental MF/BP Leaf Term GOA',NULL,6787,NULL,'GO:0050501|F:hyaluronan synthase activity|IDA; GO:0030213|P:hyaluronan biosynthetic process|IDA; GO:1900106|P:positive regulation of hyaluranon cable assembly|IDA',NULL,NULL,NULL,NULL,NULL),(136881,'Experimental MF/BP Leaf Term GOA',NULL,6788,NULL,'GO:0042731|F:PH domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(136882,'Experimental MF/BP Leaf Term GOA',NULL,6790,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA',NULL,NULL,NULL,NULL,NULL),(136883,'Experimental MF/BP Leaf Term GOA',NULL,6792,NULL,'GO:1990247|F:N6-methyladenosine-containing RNA binding|IDA; GO:0008266|F:poly(U) RNA binding|IDA; GO:0070034|F:telomerase RNA binding|IPI; GO:0070935|P:3\'-UTR-mediated mRNA stabilization|IMP; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(136884,'Experimental MF/BP Leaf Term GOA',NULL,6796,NULL,'GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0070934|P:CRD-mediated mRNA stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136885,'Experimental MF/BP Leaf Term GOA',NULL,6798,NULL,'GO:0005524|F:ATP binding|IDA; GO:0008143|F:poly(A) binding|IDA; GO:0017130|F:poly(C) RNA binding|IDA; GO:0034046|F:poly(G) binding|IDA; GO:0070034|F:telomerase RNA binding|IPI; GO:0001097|F:TFIIH-class transcription factor complex binding|IDA; GO:0070934|P:CRD-mediated mRNA stabilization|IMP; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IMP; GO:0034244|P:negative regulation of transcription elongation from RNA polymerase II promoter|IMP; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA; GO:1901673|P:regulation of mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136886,'Experimental MF/BP Leaf Term GOA',NULL,6804,NULL,'GO:0004657|F:proline dehydrogenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(136887,'Experimental MF/BP Leaf Term GOA',NULL,6807,NULL,'GO:0004252|F:serine-type endopeptidase activity|IMP; GO:0035458|P:cellular response to interferon-beta|IDA; GO:0071300|P:cellular response to retinoic acid|IDA; GO:2001241|P:positive regulation of extrinsic apoptotic signaling pathway in absence of ligand|IMP; GO:0070207|P:protein homotrimerization|IMP',NULL,NULL,NULL,NULL,NULL),(136888,'Experimental MF/BP Leaf Term GOA',NULL,6809,NULL,'GO:0030171|F:voltage-gated proton channel activity|IDA; GO:0071294|P:cellular response to zinc ion|IDA',NULL,NULL,NULL,NULL,NULL),(136889,'Experimental MF/BP Leaf Term GOA',NULL,6815,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0120163|P:negative regulation of cold-induced thermogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136890,'Experimental MF/BP Leaf Term GOA',NULL,6824,NULL,'GO:0004452|F:isopentenyl-diphosphate delta-isomerase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(136891,'Experimental MF/BP Leaf Term GOA',NULL,6825,NULL,'GO:0003743|F:translation initiation factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136892,'Experimental MF/BP Leaf Term GOA',NULL,6826,NULL,'GO:0004473|F:malate dehydrogenase (decarboxylating) (NADP+) activity|IDA; GO:0006108|P:malate metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(136893,'Experimental MF/BP Leaf Term GOA',NULL,6827,NULL,'GO:0005524|F:ATP binding|IDA; GO:0008190|F:eukaryotic initiation factor 4E binding|IDA; GO:0097009|P:energy homeostasis|IMP; GO:0010801|P:negative regulation of peptidyl-threonine phosphorylation|IMP; GO:1905537|P:positive regulation of eukaryotic translation initiation factor 4F complex assembly|IMP; GO:1905618|P:positive regulation of miRNA mediated inhibition of translation|IDA; GO:1905612|P:positive regulation of mRNA cap binding|IDA',NULL,NULL,NULL,NULL,NULL),(136894,'Experimental MF/BP Leaf Term GOA',NULL,6828,NULL,'GO:0035195|P:gene silencing by miRNA|IMP; GO:0042256|P:mature ribosome assembly|IMP; GO:0035278|P:miRNA mediated inhibition of translation|IMP',NULL,NULL,NULL,NULL,NULL),(136895,'Experimental MF/BP Leaf Term GOA',NULL,6830,NULL,'GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IMP; GO:0051902|P:negative regulation of mitochondrial depolarization|IMP; GO:0001836|P:release of cytochrome c from mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(136896,'Experimental MF/BP Leaf Term GOA',NULL,6836,NULL,'GO:0005132|F:type I interferon receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(136897,'Experimental MF/BP Leaf Term GOA',NULL,6839,NULL,'GO:0035720|P:intraciliary anterograde transport|IMP',NULL,NULL,NULL,NULL,NULL),(136898,'Experimental MF/BP Leaf Term GOA',NULL,6841,NULL,'GO:0004252|F:serine-type endopeptidase activity|EXP',NULL,NULL,NULL,NULL,NULL),(136899,'Experimental MF/BP Leaf Term GOA',NULL,6845,NULL,'GO:0046854|P:phosphatidylinositol phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(136900,'Experimental MF/BP Leaf Term GOA',NULL,6846,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136901,'Experimental MF/BP Leaf Term GOA',NULL,6849,NULL,'GO:0031370|F:eukaryotic initiation factor 4G binding|IDA; GO:0000340|F:RNA 7-methylguanosine cap binding|IDA; GO:0003743|F:translation initiation factor activity|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IMP',NULL,NULL,NULL,NULL,NULL),(136902,'Experimental MF/BP Leaf Term GOA',NULL,6851,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136903,'Experimental MF/BP Leaf Term GOA',NULL,6853,NULL,'GO:0007260|P:tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(136904,'Experimental MF/BP Leaf Term GOA',NULL,6858,NULL,'GO:0008266|F:poly(U) RNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(136905,'Experimental MF/BP Leaf Term GOA',NULL,6861,NULL,'GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(136906,'Experimental MF/BP Leaf Term GOA',NULL,6862,NULL,'GO:0004418|F:hydroxymethylbilane synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136907,'Experimental MF/BP Leaf Term GOA',NULL,6864,NULL,'GO:0072577|P:endothelial cell apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(136908,'Experimental MF/BP Leaf Term GOA',NULL,6865,NULL,'GO:0045721|P:negative regulation of gluconeogenesis|IDA',NULL,NULL,NULL,NULL,NULL),(136909,'Experimental MF/BP Leaf Term GOA',NULL,6867,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136910,'Experimental MF/BP Leaf Term GOA',NULL,6868,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(136911,'Experimental MF/BP Leaf Term GOA',NULL,6872,NULL,'GO:0072001|P:renal system development|IMP; GO:0060041|P:retina development in camera-type eye|IMP',NULL,NULL,NULL,NULL,NULL),(136912,'Experimental MF/BP Leaf Term GOA',NULL,6873,NULL,'GO:0008440|F:inositol-1,4,5-trisphosphate 3-kinase activity|IDA; GO:0071277|P:cellular response to calcium ion|IDA',NULL,NULL,NULL,NULL,NULL),(136913,'Experimental MF/BP Leaf Term GOA',NULL,6875,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0045494|P:photoreceptor cell maintenance|IMP',NULL,NULL,NULL,NULL,NULL),(136914,'Experimental MF/BP Leaf Term GOA',NULL,6876,NULL,'GO:0035035|F:histone acetyltransferase binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0071277|P:cellular response to calcium ion|IDA; GO:0070375|P:ERK5 cascade|IMP',NULL,NULL,NULL,NULL,NULL),(136915,'Experimental MF/BP Leaf Term GOA',NULL,6877,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0070498|P:interleukin-1-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136916,'Experimental MF/BP Leaf Term GOA',NULL,6878,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0070498|P:interleukin-1-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136917,'Experimental MF/BP Leaf Term GOA',NULL,6880,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0110024|P:positive regulation of cardiac muscle myoblast proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(136918,'Experimental MF/BP Leaf Term GOA',NULL,6886,NULL,'GO:0035987|P:endodermal cell differentiation|IEP; GO:0050901|P:leukocyte tethering or rolling|IMP; GO:0090074|P:negative regulation of protein homodimerization activity|IDA; GO:2000353|P:positive regulation of endothelial cell apoptotic process|IMP; GO:1905564|P:positive regulation of vascular endothelial cell proliferation|IMP; GO:0034446|P:substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(136919,'Experimental MF/BP Leaf Term GOA',NULL,6889,NULL,'GO:0035987|P:endodermal cell differentiation|IEP; GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:0043149|P:stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136920,'Experimental MF/BP Leaf Term GOA',NULL,6892,NULL,'GO:1990430|F:extracellular matrix protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(136921,'Experimental MF/BP Leaf Term GOA',NULL,6893,NULL,'GO:0001540|F:amyloid-beta binding|IPI',NULL,NULL,NULL,NULL,NULL),(136922,'Experimental MF/BP Leaf Term GOA',NULL,6894,NULL,'GO:0032148|P:activation of protein kinase B activity|IDA; GO:0002043|P:blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IDA; GO:0044344|P:cellular response to fibroblast growth factor stimulus|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IDA; GO:0007229|P:integrin-mediated signaling pathway|IDA; GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:0051895|P:negative regulation of focal adhesion assembly|IDA; GO:1900025|P:negative regulation of substrate adhesion-dependent cell spreading|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(136923,'Experimental MF/BP Leaf Term GOA',NULL,6895,NULL,'GO:0031994|F:insulin-like growth factor I binding|IDA; GO:0038132|F:neuregulin binding|IDA; GO:0097186|P:amelogenesis|IMP; GO:0010668|P:ectodermal cell differentiation|IEP; GO:0035878|P:nail development|IMP; GO:0072001|P:renal system development|IMP; GO:0043588|P:skin development|IMP',NULL,NULL,NULL,NULL,NULL),(136924,'Experimental MF/BP Leaf Term GOA',NULL,6896,NULL,'GO:0034446|P:substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(136925,'Experimental MF/BP Leaf Term GOA',NULL,6900,NULL,'GO:0010668|P:ectodermal cell differentiation|IEP; GO:0043315|P:positive regulation of neutrophil degranulation|IGI; GO:0032930|P:positive regulation of superoxide anion generation|IGI',NULL,NULL,NULL,NULL,NULL),(136926,'Experimental MF/BP Leaf Term GOA',NULL,6901,NULL,'GO:0060921|P:sinoatrial node cell differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(136927,'Experimental MF/BP Leaf Term GOA',NULL,6904,NULL,'GO:0070300|F:phosphatidic acid binding|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0010314|F:phosphatidylinositol-5-phosphate binding|IDA; GO:0001786|F:phosphatidylserine binding|IDA; GO:0060316|P:positive regulation of ryanodine-sensitive calcium-release channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(136928,'Experimental MF/BP Leaf Term GOA',NULL,6909,NULL,'GO:0004478|F:methionine adenosyltransferase activity|IDA; GO:0051289|P:protein homotetramerization|IDA; GO:0006556|P:S-adenosylmethionine biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(136929,'Experimental MF/BP Leaf Term GOA',NULL,6911,NULL,'GO:0004478|F:methionine adenosyltransferase activity|IDA; GO:0034214|P:protein hexamerization|IDA; GO:0006556|P:S-adenosylmethionine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136930,'Experimental MF/BP Leaf Term GOA',NULL,6912,NULL,'GO:0004017|F:adenylate kinase activity|EXP; GO:0004550|F:nucleoside diphosphate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136931,'Experimental MF/BP Leaf Term GOA',NULL,6913,NULL,'GO:0004017|F:adenylate kinase activity|EXP',NULL,NULL,NULL,NULL,NULL),(136932,'Experimental MF/BP Leaf Term GOA',NULL,6914,NULL,'GO:0004550|F:nucleoside diphosphate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136933,'Experimental MF/BP Leaf Term GOA',NULL,6915,NULL,'GO:0004017|F:adenylate kinase activity|IDA; GO:0004550|F:nucleoside diphosphate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136934,'Experimental MF/BP Leaf Term GOA',NULL,6916,NULL,'GO:0043984|P:histone H4-K16 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(136935,'Experimental MF/BP Leaf Term GOA',NULL,6918,NULL,'GO:0047804|F:cysteine-S-conjugate beta-lyase activity|IDA; GO:0016212|F:kynurenine-oxoglutarate transaminase activity|IDA; GO:0047945|F:L-glutamine:pyruvate aminotransferase activity|EXP; GO:0047312|F:L-phenylalanine:pyruvate aminotransferase activity|EXP; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(136936,'Experimental MF/BP Leaf Term GOA',NULL,6919,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0106078|F:histone succinyltransferase activity|IDA; GO:0106077|P:histone succinylation|IDA',NULL,NULL,NULL,NULL,NULL),(136937,'Experimental MF/BP Leaf Term GOA',NULL,6922,NULL,'GO:0003688|F:DNA replication origin binding|IMP; GO:0043983|P:histone H4-K12 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(136938,'Experimental MF/BP Leaf Term GOA',NULL,6923,NULL,'GO:0008568|F:microtubule-severing ATPase activity|IDA; GO:0051013|P:microtubule severing|IDA',NULL,NULL,NULL,NULL,NULL),(136939,'Experimental MF/BP Leaf Term GOA',NULL,6933,NULL,'GO:0001886|P:endothelial cell morphogenesis|IDA; GO:0061436|P:establishment of skin barrier|IMP; GO:0035024|P:negative regulation of Rho protein signal transduction|IDA; GO:0051497|P:negative regulation of stress fiber assembly|IDA; GO:0070495|P:negative regulation of thrombin-activated receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136940,'Experimental MF/BP Leaf Term GOA',NULL,6937,NULL,'GO:1905515|P:non-motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136941,'Experimental MF/BP Leaf Term GOA',NULL,6946,NULL,'GO:0071493|P:cellular response to UV-B|IDA; GO:0048251|P:elastic fiber assembly|IDA; GO:0009650|P:UV protection|IDA',NULL,NULL,NULL,NULL,NULL),(136942,'Experimental MF/BP Leaf Term GOA',NULL,6949,NULL,'GO:0032793|P:positive regulation of CREB transcription factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136943,'Experimental MF/BP Leaf Term GOA',NULL,6955,NULL,'GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:1904469|P:positive regulation of tumor necrosis factor secretion|IDA',NULL,NULL,NULL,NULL,NULL),(136944,'Experimental MF/BP Leaf Term GOA',NULL,6956,NULL,'GO:0043559|F:insulin binding|IPI; GO:0005158|F:insulin receptor binding|IDA; GO:0043560|F:insulin receptor substrate binding|IPI; GO:0031994|F:insulin-like growth factor I binding|IDA; GO:0005010|F:insulin-like growth factor-activated receptor activity|IDA; GO:1904646|P:cellular response to amyloid-beta|IGI; GO:0051389|P:inactivation of MAPKK activity|IDA; GO:0048009|P:insulin-like growth factor receptor signaling pathway|IDA; GO:0038083|P:peptidyl-tyrosine autophosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(136945,'Experimental MF/BP Leaf Term GOA',NULL,6960,NULL,'GO:0042163|F:interleukin-12 beta subunit binding|IPI; GO:0045513|F:interleukin-27 binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0050830|P:defense response to Gram-positive bacterium|IEP; GO:0002860|P:positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(136946,'Experimental MF/BP Leaf Term GOA',NULL,6966,NULL,'GO:0031648|P:protein destabilization|IMP',NULL,NULL,NULL,NULL,NULL),(136947,'Experimental MF/BP Leaf Term GOA',NULL,6970,NULL,'GO:0030369|F:ICAM-3 receptor activity|IMP; GO:0035987|P:endodermal cell differentiation|IEP; GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:0030593|P:neutrophil chemotaxis|IDA; GO:0043315|P:positive regulation of neutrophil degranulation|IGI; GO:0032930|P:positive regulation of superoxide anion generation|IGI',NULL,NULL,NULL,NULL,NULL),(136948,'Experimental MF/BP Leaf Term GOA',NULL,6971,NULL,'GO:0001968|F:fibronectin binding|IMP; GO:0003756|F:protein disulfide isomerase activity|IDA; GO:0043184|F:vascular endothelial growth factor receptor 2 binding|IPI; GO:0038027|P:apolipoprotein A-I-mediated signaling pathway|IMP; GO:0043277|P:apoptotic cell clearance|IGI; GO:0045715|P:negative regulation of low-density lipoprotein particle receptor biosynthetic process|IMP; GO:0010745|P:negative regulation of macrophage derived foam cell differentiation|IMP; GO:0030168|P:platelet activation|IMP; GO:0070527|P:platelet aggregation|IMP; GO:0099149|P:regulation of postsynaptic neurotransmitter receptor internalization|IDA; GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(136949,'Experimental MF/BP Leaf Term GOA',NULL,6975,NULL,'GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:0050901|P:leukocyte tethering or rolling|IMP; GO:0034446|P:substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(136950,'Experimental MF/BP Leaf Term GOA',NULL,6976,NULL,'GO:0046326|P:positive regulation of glucose import|IDA; GO:0070207|P:protein homotrimerization|IDA',NULL,NULL,NULL,NULL,NULL),(136951,'Experimental MF/BP Leaf Term GOA',NULL,6978,NULL,'GO:0001540|F:amyloid-beta binding|IPI; GO:0042985|P:negative regulation of amyloid precursor protein biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(136952,'Experimental MF/BP Leaf Term GOA',NULL,6981,NULL,'GO:0047325|F:inositol tetrakisphosphate 1-kinase activity|EXP; GO:0000825|F:inositol tetrakisphosphate 6-kinase activity|IMP; GO:0052726|F:inositol-1,3,4-trisphosphate 5-kinase activity|EXP; GO:0052725|F:inositol-1,3,4-trisphosphate 6-kinase activity|EXP; GO:0070266|P:necroptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(136953,'Experimental MF/BP Leaf Term GOA',NULL,6983,NULL,'GO:0008470|F:isovaleryl-CoA dehydrogenase activity|IDA; GO:0033539|P:fatty acid beta-oxidation using acyl-CoA dehydrogenase|IDA',NULL,NULL,NULL,NULL,NULL),(136954,'Experimental MF/BP Leaf Term GOA',NULL,6984,NULL,'GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(136955,'Experimental MF/BP Leaf Term GOA',NULL,6985,NULL,'GO:0016422|F:mRNA (2\'-O-methyladenosine-N6-)-methyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136956,'Experimental MF/BP Leaf Term GOA',NULL,6987,NULL,'GO:0010181|F:FMN binding|IDA',NULL,NULL,NULL,NULL,NULL),(136957,'Experimental MF/BP Leaf Term GOA',NULL,6988,NULL,'GO:0007342|P:fusion of sperm to egg plasma membrane involved in single fertilization|IDA',NULL,NULL,NULL,NULL,NULL),(136958,'Experimental MF/BP Leaf Term GOA',NULL,6989,NULL,'GO:0043983|P:histone H4-K12 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(136959,'Experimental MF/BP Leaf Term GOA',NULL,6990,NULL,'GO:0043983|P:histone H4-K12 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(136960,'Experimental MF/BP Leaf Term GOA',NULL,6991,NULL,'GO:0005112|F:Notch binding|IPI; GO:0097150|P:neuronal stem cell population maintenance|IEP; GO:0061156|P:pulmonary artery morphogenesis|IMP; GO:0003184|P:pulmonary valve morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(136961,'Experimental MF/BP Leaf Term GOA',NULL,6992,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0005112|F:Notch binding|IPI; GO:0007283|P:spermatogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(136962,'Experimental MF/BP Leaf Term GOA',NULL,6993,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IDA; GO:0035696|P:monocyte extravasation|IMP; GO:0030593|P:neutrophil chemotaxis|IMP; GO:0072672|P:neutrophil extravasation|IMP',NULL,NULL,NULL,NULL,NULL),(136963,'Experimental MF/BP Leaf Term GOA',NULL,6994,NULL,'GO:0035771|P:interleukin-4-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(136964,'Experimental MF/BP Leaf Term GOA',NULL,6995,NULL,'GO:0030165|F:PDZ domain binding|IPI; GO:0090557|P:establishment of endothelial intestinal barrier|IMP; GO:0034260|P:negative regulation of GTPase activity|IMP',NULL,NULL,NULL,NULL,NULL),(136965,'Experimental MF/BP Leaf Term GOA',NULL,6999,NULL,'GO:0005078|F:MAP-kinase scaffold activity|IDA',NULL,NULL,NULL,NULL,NULL),(136966,'Experimental MF/BP Leaf Term GOA',NULL,7000,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(136967,'Experimental MF/BP Leaf Term GOA',NULL,7003,NULL,'GO:0033746|F:histone demethylase activity (H3-R2 specific)|IDA; GO:0033749|F:histone demethylase activity (H4-R3 specific)|IDA; GO:0070078|P:histone H3-R2 demethylation|IDA; GO:0070079|P:histone H4-R3 demethylation|IDA; GO:0018395|P:peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|IDA',NULL,NULL,NULL,NULL,NULL),(136968,'Experimental MF/BP Leaf Term GOA',NULL,7006,NULL,'GO:0004862|F:cAMP-dependent protein kinase inhibitor activity|IDA; GO:0008603|F:cAMP-dependent protein kinase regulator activity|IDA; GO:0034236|F:protein kinase A catalytic subunit binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:0046007|P:negative regulation of activated T cell proliferation|IMP; GO:2000480|P:negative regulation of cAMP-dependent protein kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136969,'Experimental MF/BP Leaf Term GOA',NULL,7007,NULL,'GO:0004862|F:cAMP-dependent protein kinase inhibitor activity|IDA; GO:0008603|F:cAMP-dependent protein kinase regulator activity|IDA; GO:0034236|F:protein kinase A catalytic subunit binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:2000480|P:negative regulation of cAMP-dependent protein kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(136970,'Experimental MF/BP Leaf Term GOA',NULL,7008,NULL,'GO:0005524|F:ATP binding|IDA; GO:0004691|F:cAMP-dependent protein kinase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IDA',NULL,NULL,NULL,NULL,NULL),(136971,'Experimental MF/BP Leaf Term GOA',NULL,7011,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0004468|F:lysine N-acetyltransferase activity, acting on acetyl phosphate as donor|IDA; GO:0032869|P:cellular response to insulin stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(136972,'Experimental MF/BP Leaf Term GOA',NULL,7016,NULL,'GO:0070402|F:NADPH binding|IDA',NULL,NULL,NULL,NULL,NULL),(136973,'Experimental MF/BP Leaf Term GOA',NULL,7019,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(136974,'Experimental MF/BP Leaf Term GOA',NULL,7020,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0043653|P:mitochondrial fragmentation involved in apoptotic process|IMP; GO:0070584|P:mitochondrion morphogenesis|IMP; GO:0016559|P:peroxisome fission|IMP; GO:0090141|P:positive regulation of mitochondrial fission|IDA; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IMP; GO:0006626|P:protein targeting to mitochondrion|IMP; GO:0001836|P:release of cytochrome c from mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(136975,'Experimental MF/BP Leaf Term GOA',NULL,7021,NULL,'GO:0007616|P:long-term memory|IGI',NULL,NULL,NULL,NULL,NULL),(136976,'Experimental MF/BP Leaf Term GOA',NULL,7027,NULL,'GO:0005525|F:GTP binding|IDA; GO:0051721|F:protein phosphatase 2A binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0034136|P:negative regulation of toll-like receptor 2 signaling pathway|IMP; GO:0034144|P:negative regulation of toll-like receptor 4 signaling pathway|IMP; GO:1900745|P:positive regulation of p38MAPK cascade|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP; GO:0034137|P:positive regulation of toll-like receptor 2 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(136977,'Experimental MF/BP Leaf Term GOA',NULL,7028,NULL,'GO:0005251|F:delayed rectifier potassium channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(136978,'Experimental MF/BP Leaf Term GOA',NULL,7032,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1905461|P:positive regulation of vascular associated smooth muscle cell apoptotic process|IMP; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IMP; GO:0034497|P:protein localization to phagophore assembly site|IDA; GO:0006626|P:protein targeting to mitochondrion|IDA',NULL,NULL,NULL,NULL,NULL),(136979,'Experimental MF/BP Leaf Term GOA',NULL,7033,NULL,'GO:0005513|P:detection of calcium ion|IDA; GO:0019228|P:neuronal action potential|IDA',NULL,NULL,NULL,NULL,NULL),(136980,'Experimental MF/BP Leaf Term GOA',NULL,7037,NULL,'GO:1902260|P:negative regulation of delayed rectifier potassium channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(136981,'Experimental MF/BP Leaf Term GOA',NULL,7038,NULL,'GO:0005251|F:delayed rectifier potassium channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(136982,'Experimental MF/BP Leaf Term GOA',NULL,7043,NULL,'GO:0043024|F:ribosomal small subunit binding|IDA; GO:0070124|P:mitochondrial translational initiation|IDA; GO:0032790|P:ribosome disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(136983,'Experimental MF/BP Leaf Term GOA',NULL,7044,NULL,'GO:0032003|F:interleukin-28 receptor binding|IPI; GO:0043381|P:negative regulation of memory T cell differentiation|IDA; GO:0045345|P:positive regulation of MHC class I biosynthetic process|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(136984,'Experimental MF/BP Leaf Term GOA',NULL,7046,NULL,'GO:2000666|P:negative regulation of interleukin-13 secretion|IDA; GO:2000663|P:negative regulation of interleukin-5 secretion|IDA; GO:2000552|P:negative regulation of T-helper 2 cell cytokine production|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(136985,'Experimental MF/BP Leaf Term GOA',NULL,7047,NULL,'GO:0035721|P:intraciliary retrograde transport|IMP',NULL,NULL,NULL,NULL,NULL),(136986,'Experimental MF/BP Leaf Term GOA',NULL,7067,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136987,'Experimental MF/BP Leaf Term GOA',NULL,7069,NULL,'GO:0035987|P:endodermal cell differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(136988,'Experimental MF/BP Leaf Term GOA',NULL,7072,NULL,'GO:0035870|F:dITP diphosphatase activity|EXP; GO:0036220|F:ITP diphosphatase activity|EXP; GO:0036222|F:XTP diphosphatase activity|EXP',NULL,NULL,NULL,NULL,NULL),(136989,'Experimental MF/BP Leaf Term GOA',NULL,7074,NULL,'GO:0019855|F:calcium channel inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(136990,'Experimental MF/BP Leaf Term GOA',NULL,7076,NULL,'GO:0097110|F:scaffold protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(136991,'Experimental MF/BP Leaf Term GOA',NULL,7077,NULL,'GO:0070679|F:inositol 1,4,5 trisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(136992,'Experimental MF/BP Leaf Term GOA',NULL,7087,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(136993,'Experimental MF/BP Leaf Term GOA',NULL,7089,NULL,'GO:0035497|F:cAMP response element binding|IDA; GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0005096|F:GTPase activator activity|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0070412|F:R-SMAD binding|IPI; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071276|P:cellular response to cadmium ion|IMP; GO:0043922|P:negative regulation by host of viral transcription|IDA; GO:1990441|P:negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress|IMP; GO:0043923|P:positive regulation by host of viral transcription|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IMP; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IMP; GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(136994,'Experimental MF/BP Leaf Term GOA',NULL,7103,NULL,'GO:0000045|P:autophagosome assembly|IMP; GO:2000786|P:positive regulation of autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(136995,'Experimental MF/BP Leaf Term GOA',NULL,7112,NULL,'GO:0097110|F:scaffold protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(136996,'Experimental MF/BP Leaf Term GOA',NULL,7113,NULL,'GO:0042633|P:hair cycle|IDA',NULL,NULL,NULL,NULL,NULL),(136997,'Experimental MF/BP Leaf Term GOA',NULL,7114,NULL,'GO:0008307|F:structural constituent of muscle|IDA; GO:0045214|P:sarcomere organization|IDA',NULL,NULL,NULL,NULL,NULL),(136998,'Experimental MF/BP Leaf Term GOA',NULL,7118,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042633|P:hair cycle|IDA',NULL,NULL,NULL,NULL,NULL),(136999,'Experimental MF/BP Leaf Term GOA',NULL,7124,NULL,'GO:0043588|P:skin development|IDA',NULL,NULL,NULL,NULL,NULL),(137000,'Experimental MF/BP Leaf Term GOA',NULL,7130,NULL,'GO:0031424|P:keratinization|IDA; GO:0032980|P:keratinocyte activation|IDA; GO:0051546|P:keratinocyte migration|IDA; GO:0043616|P:keratinocyte proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(137001,'Experimental MF/BP Leaf Term GOA',NULL,7133,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0001867|P:complement activation, lectin pathway|IPI; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(137002,'Experimental MF/BP Leaf Term GOA',NULL,7136,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:2000536|P:negative regulation of entry of bacterium into host cell|IDA',NULL,NULL,NULL,NULL,NULL),(137003,'Experimental MF/BP Leaf Term GOA',NULL,7140,NULL,'GO:1990254|F:keratin filament binding|IPI',NULL,NULL,NULL,NULL,NULL),(137004,'Experimental MF/BP Leaf Term GOA',NULL,7144,NULL,'GO:0008705|F:methionine synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137005,'Experimental MF/BP Leaf Term GOA',NULL,7146,NULL,'GO:0004550|F:nucleoside diphosphate kinase activity|IDA; GO:0006756|P:AMP phosphorylation|IDA; GO:0061508|P:CDP phosphorylation|IDA; GO:0061566|P:CMP phosphorylation|IDA; GO:0006174|P:dADP phosphorylation|IDA; GO:0061565|P:dAMP phosphorylation|IDA; GO:0061570|P:dCDP phosphorylation|IDA; GO:0061567|P:dCMP phosphorylation|IDA; GO:0006186|P:dGDP phosphorylation|IDA; GO:0061568|P:GDP phosphorylation|IDA; GO:0061571|P:TDP phosphorylation|IDA; GO:0061569|P:UDP phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(137006,'Experimental MF/BP Leaf Term GOA',NULL,7152,NULL,'GO:0006882|P:cellular zinc ion homeostasis|IMP',NULL,NULL,NULL,NULL,NULL),(137007,'Experimental MF/BP Leaf Term GOA',NULL,7156,NULL,'GO:0071392|P:cellular response to estradiol stimulus|IDA; GO:0033601|P:positive regulation of mammary gland epithelial cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(137008,'Experimental MF/BP Leaf Term GOA',NULL,7160,NULL,'GO:0030576|P:Cajal body organization|IMP; GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA; GO:0042307|P:positive regulation of protein import into nucleus|IDA; GO:0071931|P:positive regulation of transcription involved in G1/S transition of mitotic cell cycle|IMP; GO:1990261|P:pre-mRNA catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(137009,'Experimental MF/BP Leaf Term GOA',NULL,7179,NULL,'GO:0060041|P:retina development in camera-type eye|IMP',NULL,NULL,NULL,NULL,NULL),(137010,'Experimental MF/BP Leaf Term GOA',NULL,7183,NULL,'GO:0090557|P:establishment of endothelial intestinal barrier|IMP',NULL,NULL,NULL,NULL,NULL),(137011,'Experimental MF/BP Leaf Term GOA',NULL,7184,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137012,'Experimental MF/BP Leaf Term GOA',NULL,7193,NULL,'GO:0070895|P:negative regulation of transposon integration|IDA',NULL,NULL,NULL,NULL,NULL),(137013,'Experimental MF/BP Leaf Term GOA',NULL,7202,NULL,'GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:0000070|P:mitotic sister chromatid segregation|IDA',NULL,NULL,NULL,NULL,NULL),(137014,'Experimental MF/BP Leaf Term GOA',NULL,7215,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0007175|P:negative regulation of epidermal growth factor-activated receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137015,'Experimental MF/BP Leaf Term GOA',NULL,7220,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:2000811|P:negative regulation of anoikis|IMP; GO:1902466|P:positive regulation of histone H3-K27 trimethylation|IMP; GO:1900114|P:positive regulation of histone H3-K9 trimethylation|IMP; GO:0090309|P:positive regulation of methylation-dependent chromatin silencing|IMP',NULL,NULL,NULL,NULL,NULL),(137016,'Experimental MF/BP Leaf Term GOA',NULL,7230,NULL,'GO:0010729|P:positive regulation of hydrogen peroxide biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(137017,'Experimental MF/BP Leaf Term GOA',NULL,7234,NULL,'GO:0000900|F:translation repressor activity, mRNA regulatory element binding|IMP',NULL,NULL,NULL,NULL,NULL),(137018,'Experimental MF/BP Leaf Term GOA',NULL,7246,NULL,'GO:0061090|P:positive regulation of sequestering of zinc ion|IDA',NULL,NULL,NULL,NULL,NULL),(137019,'Experimental MF/BP Leaf Term GOA',NULL,7250,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137020,'Experimental MF/BP Leaf Term GOA',NULL,7259,NULL,'GO:1903546|P:protein localization to photoreceptor outer segment|IDA',NULL,NULL,NULL,NULL,NULL),(137021,'Experimental MF/BP Leaf Term GOA',NULL,7277,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137022,'Experimental MF/BP Leaf Term GOA',NULL,7291,NULL,'GO:2000616|P:negative regulation of histone H3-K9 acetylation|IMP',NULL,NULL,NULL,NULL,NULL),(137023,'Experimental MF/BP Leaf Term GOA',NULL,7305,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IDA; GO:2000660|P:negative regulation of interleukin-1-mediated signaling pathway|IDA; GO:0043508|P:negative regulation of JUN kinase activity|IDA; GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137024,'Experimental MF/BP Leaf Term GOA',NULL,7309,NULL,'GO:0072344|P:rescue of stalled ribosome|IDA',NULL,NULL,NULL,NULL,NULL),(137025,'Experimental MF/BP Leaf Term GOA',NULL,7316,NULL,'GO:0000070|P:mitotic sister chromatid segregation|IDA',NULL,NULL,NULL,NULL,NULL),(137026,'Experimental MF/BP Leaf Term GOA',NULL,7327,NULL,'GO:0035198|F:miRNA binding|IDA; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IMP',NULL,NULL,NULL,NULL,NULL),(137027,'Experimental MF/BP Leaf Term GOA',NULL,7330,NULL,'GO:0008327|F:methyl-CpG binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137028,'Experimental MF/BP Leaf Term GOA',NULL,7335,NULL,'GO:0001206|F:distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(137029,'Experimental MF/BP Leaf Term GOA',NULL,7341,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137030,'Experimental MF/BP Leaf Term GOA',NULL,7343,NULL,'GO:0043849|F:Ras palmitoyltransferase activity|IDA; GO:0018230|P:peptidyl-L-cysteine S-palmitoylation|IDA',NULL,NULL,NULL,NULL,NULL),(137031,'Experimental MF/BP Leaf Term GOA',NULL,7358,NULL,'GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(137032,'Experimental MF/BP Leaf Term GOA',NULL,7360,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137033,'Experimental MF/BP Leaf Term GOA',NULL,7370,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137034,'Experimental MF/BP Leaf Term GOA',NULL,7377,NULL,'GO:0036159|P:inner dynein arm assembly|IMP; GO:0044458|P:motile cilium assembly|IMP; GO:0036158|P:outer dynein arm assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137035,'Experimental MF/BP Leaf Term GOA',NULL,7380,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137036,'Experimental MF/BP Leaf Term GOA',NULL,7394,NULL,'GO:1904637|P:cellular response to ionomycin|IDA; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137037,'Experimental MF/BP Leaf Term GOA',NULL,7396,NULL,'GO:0072707|P:cellular response to sodium dodecyl sulfate|IDA; GO:0045654|P:positive regulation of megakaryocyte differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(137038,'Experimental MF/BP Leaf Term GOA',NULL,7402,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0071947|P:protein deubiquitination involved in ubiquitin-dependent protein catabolic process|IMP; GO:0035523|P:protein K29-linked deubiquitination|IDA; GO:1990168|P:protein K33-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(137039,'Experimental MF/BP Leaf Term GOA',NULL,7409,NULL,'GO:0035198|F:miRNA binding|IDA; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IMP',NULL,NULL,NULL,NULL,NULL),(137040,'Experimental MF/BP Leaf Term GOA',NULL,7416,NULL,'GO:0018230|P:peptidyl-L-cysteine S-palmitoylation|IMP',NULL,NULL,NULL,NULL,NULL),(137041,'Experimental MF/BP Leaf Term GOA',NULL,7426,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137042,'Experimental MF/BP Leaf Term GOA',NULL,7430,NULL,'GO:0008270|F:zinc ion binding|IMP; GO:1903026|P:negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding|IGI',NULL,NULL,NULL,NULL,NULL),(137043,'Experimental MF/BP Leaf Term GOA',NULL,7447,NULL,'GO:0008585|P:female gonad development|IEP; GO:0008584|P:male gonad development|IEP',NULL,NULL,NULL,NULL,NULL),(137044,'Experimental MF/BP Leaf Term GOA',NULL,7452,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:2000773|P:negative regulation of cellular senescence|IMP',NULL,NULL,NULL,NULL,NULL),(137045,'Experimental MF/BP Leaf Term GOA',NULL,7454,NULL,'GO:0005545|F:1-phosphatidylinositol binding|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(137046,'Experimental MF/BP Leaf Term GOA',NULL,7466,NULL,'GO:1990247|F:N6-methyladenosine-containing RNA binding|IDA; GO:1903679|P:positive regulation of cap-independent translational initiation|IDA',NULL,NULL,NULL,NULL,NULL),(137047,'Experimental MF/BP Leaf Term GOA',NULL,7469,NULL,'GO:0042953|P:lipoprotein transport|IDA',NULL,NULL,NULL,NULL,NULL),(137048,'Experimental MF/BP Leaf Term GOA',NULL,7476,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0018230|P:peptidyl-L-cysteine S-palmitoylation|IDA',NULL,NULL,NULL,NULL,NULL),(137049,'Experimental MF/BP Leaf Term GOA',NULL,7478,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(137050,'Experimental MF/BP Leaf Term GOA',NULL,7480,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137051,'Experimental MF/BP Leaf Term GOA',NULL,7487,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137052,'Experimental MF/BP Leaf Term GOA',NULL,7489,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137053,'Experimental MF/BP Leaf Term GOA',NULL,7492,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137054,'Experimental MF/BP Leaf Term GOA',NULL,7493,NULL,'GO:0036435|F:K48-linked polyubiquitin modification-dependent protein binding|IDA; GO:0006616|P:SRP-dependent cotranslational protein targeting to membrane, translocation|IMP',NULL,NULL,NULL,NULL,NULL),(137055,'Experimental MF/BP Leaf Term GOA',NULL,7511,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137056,'Experimental MF/BP Leaf Term GOA',NULL,7513,NULL,'GO:0032190|F:acrosin binding|IPI; GO:0007339|P:binding of sperm to zona pellucida|IDA; GO:2000360|P:negative regulation of binding of sperm to zona pellucida|IDA; GO:2000368|P:positive regulation of acrosomal vesicle exocytosis|IDA',NULL,NULL,NULL,NULL,NULL),(137057,'Experimental MF/BP Leaf Term GOA',NULL,7520,NULL,'GO:0001582|P:detection of chemical stimulus involved in sensory perception of sweet taste|IDA; GO:0050916|P:sensory perception of sweet taste|IDA; GO:0050917|P:sensory perception of umami taste|IDA',NULL,NULL,NULL,NULL,NULL),(137058,'Experimental MF/BP Leaf Term GOA',NULL,7521,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0051879|F:Hsp90 protein binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0043276|P:anoikis|IGI',NULL,NULL,NULL,NULL,NULL),(137059,'Experimental MF/BP Leaf Term GOA',NULL,7526,NULL,'GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(137060,'Experimental MF/BP Leaf Term GOA',NULL,7535,NULL,'GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(137061,'Experimental MF/BP Leaf Term GOA',NULL,7536,NULL,'GO:0008201|F:heparin binding|IDA; GO:0071603|P:endothelial cell-cell adhesion|IDA; GO:0090023|P:positive regulation of neutrophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(137062,'Experimental MF/BP Leaf Term GOA',NULL,7537,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137063,'Experimental MF/BP Leaf Term GOA',NULL,7538,NULL,'GO:0061890|P:positive regulation of astrocyte activation|IMP; GO:1903980|P:positive regulation of microglial cell activation|IMP',NULL,NULL,NULL,NULL,NULL),(137064,'Experimental MF/BP Leaf Term GOA',NULL,7541,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137065,'Experimental MF/BP Leaf Term GOA',NULL,7543,NULL,'GO:0034551|P:mitochondrial respiratory chain complex III assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137066,'Experimental MF/BP Leaf Term GOA',NULL,7551,NULL,'GO:0004835|F:tubulin-tyrosine ligase activity|IMP',NULL,NULL,NULL,NULL,NULL),(137067,'Experimental MF/BP Leaf Term GOA',NULL,7554,NULL,'GO:0071889|F:14-3-3 protein binding|IDA; GO:0035925|F:mRNA 3\'-UTR AU-rich region binding|IDA; GO:0061158|P:3\'-UTR-mediated mRNA destabilization|IDA; GO:0070935|P:3\'-UTR-mediated mRNA stabilization|IDA; GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA; GO:0044344|P:cellular response to fibroblast growth factor stimulus|IDA; GO:0097011|P:cellular response to granulocyte macrophage colony-stimulating factor stimulus|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0000288|P:nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay|IDA; GO:0031086|P:nuclear-transcribed mRNA catabolic process, deadenylation-independent decay|IDA; GO:1901835|P:positive regulation of deadenylation-independent decapping of nuclear-transcribed mRNA|IDA; GO:0060213|P:positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|IDA',NULL,NULL,NULL,NULL,NULL),(137068,'Experimental MF/BP Leaf Term GOA',NULL,7556,NULL,'GO:0002039|F:p53 binding|IPI; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0061649|F:ubiquitin modification-dependent histone binding|IDA',NULL,NULL,NULL,NULL,NULL),(137069,'Experimental MF/BP Leaf Term GOA',NULL,7559,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0098703|P:calcium ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(137070,'Experimental MF/BP Leaf Term GOA',NULL,7562,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137071,'Experimental MF/BP Leaf Term GOA',NULL,7563,NULL,'GO:1902035|P:positive regulation of hematopoietic stem cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(137072,'Experimental MF/BP Leaf Term GOA',NULL,7564,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0036462|P:TRAIL-activated apoptotic signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137073,'Experimental MF/BP Leaf Term GOA',NULL,7566,NULL,'GO:0070679|F:inositol 1,4,5 trisphosphate binding|IDA; GO:1903244|P:positive regulation of cardiac muscle hypertrophy in response to stress|IDA',NULL,NULL,NULL,NULL,NULL),(137074,'Experimental MF/BP Leaf Term GOA',NULL,7567,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0015279|F:store-operated calcium channel activity|IMP',NULL,NULL,NULL,NULL,NULL),(137075,'Experimental MF/BP Leaf Term GOA',NULL,7571,NULL,'GO:0008176|F:tRNA (guanine-N7-)-methyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137076,'Experimental MF/BP Leaf Term GOA',NULL,7572,NULL,'GO:0002153|F:steroid receptor RNA activator RNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(137077,'Experimental MF/BP Leaf Term GOA',NULL,7574,NULL,'GO:0004791|F:thioredoxin-disulfide reductase activity|EXP',NULL,NULL,NULL,NULL,NULL),(137078,'Experimental MF/BP Leaf Term GOA',NULL,7576,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0030544|F:Hsp70 protein binding|IDA; GO:0051879|F:Hsp90 protein binding|IPI; GO:0090630|P:activation of GTPase activity|IDA; GO:0051894|P:positive regulation of focal adhesion assembly|IDA; GO:0050821|P:protein stabilization|IDA; GO:0006407|P:rRNA export from nucleus|IMP',NULL,NULL,NULL,NULL,NULL),(137079,'Experimental MF/BP Leaf Term GOA',NULL,7583,NULL,'GO:0004298|F:threonine-type endopeptidase activity|IMP',NULL,NULL,NULL,NULL,NULL),(137080,'Experimental MF/BP Leaf Term GOA',NULL,7591,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0032793|P:positive regulation of CREB transcription factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137081,'Experimental MF/BP Leaf Term GOA',NULL,7601,NULL,'GO:0046854|P:phosphatidylinositol phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(137082,'Experimental MF/BP Leaf Term GOA',NULL,7605,NULL,'GO:0006626|P:protein targeting to mitochondrion|IMP',NULL,NULL,NULL,NULL,NULL),(137083,'Experimental MF/BP Leaf Term GOA',NULL,7607,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071260|P:cellular response to mechanical stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(137084,'Experimental MF/BP Leaf Term GOA',NULL,7611,NULL,'GO:0070679|F:inositol 1,4,5 trisphosphate binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137085,'Experimental MF/BP Leaf Term GOA',NULL,7612,NULL,'GO:0098703|P:calcium ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(137086,'Experimental MF/BP Leaf Term GOA',NULL,7613,NULL,'GO:0034056|F:estrogen response element binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137087,'Experimental MF/BP Leaf Term GOA',NULL,7614,NULL,'GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:1905342|P:positive regulation of protein localization to kinetochore|IMP',NULL,NULL,NULL,NULL,NULL),(137088,'Experimental MF/BP Leaf Term GOA',NULL,7616,NULL,'GO:0070679|F:inositol 1,4,5 trisphosphate binding|IDA; GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(137089,'Experimental MF/BP Leaf Term GOA',NULL,7619,NULL,'GO:0004791|F:thioredoxin-disulfide reductase activity|EXP; GO:0045454|P:cell redox homeostasis|IMP',NULL,NULL,NULL,NULL,NULL),(137090,'Experimental MF/BP Leaf Term GOA',NULL,7623,NULL,'GO:1904976|P:cellular response to bleomycin|IMP; GO:0072719|P:cellular response to cisplatin|IMP; GO:0072711|P:cellular response to hydroxyurea|IMP',NULL,NULL,NULL,NULL,NULL),(137091,'Experimental MF/BP Leaf Term GOA',NULL,7626,NULL,'GO:0005516|F:calmodulin binding|IPI; GO:0051371|F:muscle alpha-actinin binding|IPI; GO:0008307|F:structural constituent of muscle|IMP; GO:0031433|F:telethonin binding|IPI; GO:0060048|P:cardiac muscle contraction|IMP; GO:0048739|P:cardiac muscle fiber development|IMP; GO:0035995|P:detection of muscle stretch|IDA; GO:0010737|P:protein kinase A signaling|IMP; GO:0045214|P:sarcomere organization|IMP; GO:0048769|P:sarcomerogenesis|IMP; GO:0030241|P:skeletal muscle myosin thick filament assembly|IMP; GO:0030240|P:skeletal muscle thin filament assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137092,'Experimental MF/BP Leaf Term GOA',NULL,7628,NULL,'GO:0005134|F:interleukin-2 receptor binding|IDA; GO:0001836|P:release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(137093,'Experimental MF/BP Leaf Term GOA',NULL,7631,NULL,'GO:0030274|F:LIM domain binding|IPI; GO:0017166|F:vinculin binding|IPI',NULL,NULL,NULL,NULL,NULL),(137094,'Experimental MF/BP Leaf Term GOA',NULL,7642,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0035663|F:Toll-like receptor 2 binding|IPI; GO:1904646|P:cellular response to amyloid-beta|IGI; GO:0071726|P:cellular response to diacyl bacterial lipopeptide|IDA; GO:0042496|P:detection of diacyl bacterial lipopeptide|IDA; GO:2000483|P:negative regulation of interleukin-8 secretion|IGI; GO:0034136|P:negative regulation of toll-like receptor 2 signaling pathway|IGI',NULL,NULL,NULL,NULL,NULL),(137095,'Experimental MF/BP Leaf Term GOA',NULL,7643,NULL,'GO:0001540|F:amyloid-beta binding|IDA; GO:0001530|F:lipopolysaccharide binding|IDA; GO:0042834|F:peptidoglycan binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042497|F:triacyl lipopeptide binding|IDA; GO:0071726|P:cellular response to diacyl bacterial lipopeptide|IDA; GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0071223|P:cellular response to lipoteichoic acid|IDA; GO:0071727|P:cellular response to triacyl bacterial lipopeptide|IDA; GO:0002374|P:cytokine secretion involved in immune response|IMP; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0042496|P:detection of diacyl bacterial lipopeptide|IDA; GO:0042495|P:detection of triacyl bacterial lipopeptide|IDA; GO:0007252|P:I-kappaB phosphorylation|IDA; GO:0032613|P:interleukin-10 production|IDA; GO:2000484|P:positive regulation of interleukin-8 secretion|IGI',NULL,NULL,NULL,NULL,NULL),(137096,'Experimental MF/BP Leaf Term GOA',NULL,7650,NULL,'GO:0016540|P:protein autoprocessing|IMP',NULL,NULL,NULL,NULL,NULL),(137097,'Experimental MF/BP Leaf Term GOA',NULL,7653,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1904646|P:cellular response to amyloid-beta|IDA; GO:1903588|P:negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IGI; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(137098,'Experimental MF/BP Leaf Term GOA',NULL,7658,NULL,'GO:0071848|P:positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137099,'Experimental MF/BP Leaf Term GOA',NULL,7660,NULL,'GO:0051082|F:unfolded protein binding|IDA; GO:0006626|P:protein targeting to mitochondrion|IDA',NULL,NULL,NULL,NULL,NULL),(137100,'Experimental MF/BP Leaf Term GOA',NULL,7662,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0005080|F:protein kinase C binding|IPI; GO:0006265|P:DNA topological change|IDA; GO:0045870|P:positive regulation of single stranded viral RNA replication via double stranded DNA intermediate|IMP',NULL,NULL,NULL,NULL,NULL),(137101,'Experimental MF/BP Leaf Term GOA',NULL,7663,NULL,'GO:0035195|P:gene silencing by miRNA|IMP; GO:0035278|P:miRNA mediated inhibition of translation|IDA',NULL,NULL,NULL,NULL,NULL),(137102,'Experimental MF/BP Leaf Term GOA',NULL,7664,NULL,'GO:0060213|P:positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|IMP',NULL,NULL,NULL,NULL,NULL),(137103,'Experimental MF/BP Leaf Term GOA',NULL,7666,NULL,'GO:0072345|F:NAADP-sensitive calcium-release channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(137104,'Experimental MF/BP Leaf Term GOA',NULL,7671,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137105,'Experimental MF/BP Leaf Term GOA',NULL,7672,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0046790|F:virion binding|IDA; GO:0007175|P:negative regulation of epidermal growth factor-activated receptor activity|IMP; GO:1903543|P:positive regulation of exosomal secretion|IMP; GO:1903774|P:positive regulation of viral budding via host ESCRT complex|IMP; GO:0043162|P:ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137106,'Experimental MF/BP Leaf Term GOA',NULL,7673,NULL,'GO:0050917|P:sensory perception of umami taste|IDA',NULL,NULL,NULL,NULL,NULL),(137107,'Experimental MF/BP Leaf Term GOA',NULL,7677,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0005080|F:protein kinase C binding|IPI; GO:0035663|F:Toll-like receptor 2 binding|IPI; GO:0035662|F:Toll-like receptor 4 binding|IPI; GO:0070935|P:3\'-UTR-mediated mRNA stabilization|IDA; GO:0007250|P:activation of NF-kappaB-inducing kinase activity|IMP; GO:0045410|P:positive regulation of interleukin-6 biosynthetic process|IMP; GO:0090073|P:positive regulation of protein homodimerization activity|IDA; GO:0034137|P:positive regulation of toll-like receptor 2 signaling pathway|IMP; GO:0034145|P:positive regulation of toll-like receptor 4 signaling pathway|IMP; GO:0035665|P:TIRAP-dependent toll-like receptor 4 signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137108,'Experimental MF/BP Leaf Term GOA',NULL,7678,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0004802|F:transketolase activity|IDA; GO:0046166|P:glyceraldehyde-3-phosphate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137109,'Experimental MF/BP Leaf Term GOA',NULL,7679,NULL,'GO:0005524|F:ATP binding|IDA; GO:0071480|P:cellular response to gamma radiation|IDA',NULL,NULL,NULL,NULL,NULL),(137110,'Experimental MF/BP Leaf Term GOA',NULL,7681,NULL,'GO:0035925|F:mRNA 3\'-UTR AU-rich region binding|IDA; GO:0061158|P:3\'-UTR-mediated mRNA destabilization|IMP; GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA; GO:0044344|P:cellular response to fibroblast growth factor stimulus|IDA; GO:0097011|P:cellular response to granulocyte macrophage colony-stimulating factor stimulus|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IDA',NULL,NULL,NULL,NULL,NULL),(137111,'Experimental MF/BP Leaf Term GOA',NULL,7683,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137112,'Experimental MF/BP Leaf Term GOA',NULL,7684,NULL,'GO:0060212|P:negative regulation of nuclear-transcribed mRNA poly(A) tail shortening|IDA; GO:0060213|P:positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|IDA',NULL,NULL,NULL,NULL,NULL),(137113,'Experimental MF/BP Leaf Term GOA',NULL,7686,NULL,'GO:0035195|P:gene silencing by miRNA|IGI; GO:0060213|P:positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|IDA',NULL,NULL,NULL,NULL,NULL),(137114,'Experimental MF/BP Leaf Term GOA',NULL,7688,NULL,'GO:1904047|F:S-adenosyl-L-methionine binding|IDA; GO:0008119|F:thiopurine S-methyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137115,'Experimental MF/BP Leaf Term GOA',NULL,7689,NULL,'GO:0030168|P:platelet activation|IEP',NULL,NULL,NULL,NULL,NULL),(137116,'Experimental MF/BP Leaf Term GOA',NULL,7690,NULL,'GO:0034157|P:positive regulation of toll-like receptor 7 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(137117,'Experimental MF/BP Leaf Term GOA',NULL,7691,NULL,'GO:0016430|F:tRNA (adenine-N6-)-methyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137118,'Experimental MF/BP Leaf Term GOA',NULL,7697,NULL,'GO:0052929|F:ATP:3\'-cytidine-cytidine-tRNA adenylyltransferase activity|IDA; GO:1990180|P:mitochondrial tRNA 3\'-end processing|IDA; GO:0001680|P:tRNA 3\'-terminal CCA addition|IDA',NULL,NULL,NULL,NULL,NULL),(137119,'Experimental MF/BP Leaf Term GOA',NULL,7699,NULL,'GO:0022617|P:extracellular matrix disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(137120,'Experimental MF/BP Leaf Term GOA',NULL,7704,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0070888|F:E-box binding|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA; GO:0035921|P:desmosome disassembly|IMP; GO:2000811|P:negative regulation of anoikis|IMP; GO:1900387|P:negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter|IMP; GO:0010839|P:negative regulation of keratinocyte proliferation|IDA; GO:0070563|P:negative regulation of vitamin D receptor signaling pathway|IDA; GO:0001649|P:osteoblast differentiation|IEP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(137121,'Experimental MF/BP Leaf Term GOA',NULL,7707,NULL,'GO:0017075|F:syntaxin-1 binding|IPI',NULL,NULL,NULL,NULL,NULL),(137122,'Experimental MF/BP Leaf Term GOA',NULL,7709,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(137123,'Experimental MF/BP Leaf Term GOA',NULL,7711,NULL,'GO:0044378|F:non-sequence-specific DNA binding, bending|IDA; GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0010314|F:phosphatidylinositol-5-phosphate binding|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137124,'Experimental MF/BP Leaf Term GOA',NULL,7712,NULL,'GO:0070266|P:necroptotic process|IDA; GO:0097527|P:necroptotic signaling pathway|IDA; GO:2000353|P:positive regulation of endothelial cell apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(137125,'Experimental MF/BP Leaf Term GOA',NULL,7718,NULL,'GO:0071222|P:cellular response to lipopolysaccharide|IDA',NULL,NULL,NULL,NULL,NULL),(137126,'Experimental MF/BP Leaf Term GOA',NULL,7721,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0031013|F:troponin I binding|IDA; GO:0031014|F:troponin T binding|IPI; GO:0060048|P:cardiac muscle contraction|IDA',NULL,NULL,NULL,NULL,NULL),(137127,'Experimental MF/BP Leaf Term GOA',NULL,7723,NULL,'GO:0072757|P:cellular response to camptothecin|IDA; GO:0072711|P:cellular response to hydroxyurea|IDA',NULL,NULL,NULL,NULL,NULL),(137128,'Experimental MF/BP Leaf Term GOA',NULL,7724,NULL,'GO:0042609|F:CD4 receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(137129,'Experimental MF/BP Leaf Term GOA',NULL,7742,NULL,'GO:0061676|F:importin-alpha family protein binding|IDA; GO:0090307|P:mitotic spindle assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137130,'Experimental MF/BP Leaf Term GOA',NULL,7745,NULL,'GO:0047408|F:alkenylglycerophosphocholine hydrolase activity|IDA; GO:0047409|F:alkenylglycerophosphoethanolamine hydrolase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137131,'Experimental MF/BP Leaf Term GOA',NULL,7747,NULL,'GO:2000010|P:positive regulation of protein localization to cell surface|IMP; GO:0070072|P:vacuolar proton-transporting V-type ATPase complex assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137132,'Experimental MF/BP Leaf Term GOA',NULL,7748,NULL,'GO:0030549|F:acetylcholine receptor activator activity|IDA; GO:0038195|P:urokinase plasminogen activator signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137133,'Experimental MF/BP Leaf Term GOA',NULL,7750,NULL,'GO:0070411|F:I-SMAD binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0070412|F:R-SMAD binding|IPI; GO:0043199|F:sulfate binding|IMP; GO:0030616|F:transforming growth factor beta receptor, common-partner cytoplasmic mediator activity|IDA; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IDA; GO:0070207|P:protein homotrimerization|IMP; GO:0007183|P:SMAD protein complex assembly|IDA; GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(137134,'Experimental MF/BP Leaf Term GOA',NULL,7751,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0051721|F:protein phosphatase 2A binding|IDA; GO:0070034|F:telomerase RNA binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137135,'Experimental MF/BP Leaf Term GOA',NULL,7752,NULL,'GO:0047493|F:ceramide cholinephosphotransferase activity|IDA; GO:0006686|P:sphingomyelin biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137136,'Experimental MF/BP Leaf Term GOA',NULL,7754,NULL,'GO:0097109|F:neuroligin family protein binding|IPI; GO:0030165|F:PDZ domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(137137,'Experimental MF/BP Leaf Term GOA',NULL,7755,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137138,'Experimental MF/BP Leaf Term GOA',NULL,7756,NULL,'GO:0030619|F:U1 snRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(137139,'Experimental MF/BP Leaf Term GOA',NULL,7757,NULL,'GO:0045585|P:positive regulation of cytotoxic T cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(137140,'Experimental MF/BP Leaf Term GOA',NULL,7759,NULL,'GO:1903896|P:positive regulation of IRE1-mediated unfolded protein response|IDA; GO:1903899|P:positive regulation of PERK-mediated unfolded protein response|IDA',NULL,NULL,NULL,NULL,NULL),(137141,'Experimental MF/BP Leaf Term GOA',NULL,7762,NULL,'GO:0005158|F:insulin receptor binding|IDA; GO:1990460|F:leptin receptor binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:1990459|F:transferrin receptor binding|IDA; GO:0072673|P:lamellipodium morphogenesis|IDA',NULL,NULL,NULL,NULL,NULL),(137142,'Experimental MF/BP Leaf Term GOA',NULL,7766,NULL,'GO:0002548|P:monocyte chemotaxis|IDA; GO:0045780|P:positive regulation of bone resorption|IDA; GO:0071848|P:positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|IDA',NULL,NULL,NULL,NULL,NULL),(137143,'Experimental MF/BP Leaf Term GOA',NULL,7769,NULL,'GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(137144,'Experimental MF/BP Leaf Term GOA',NULL,7770,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0060315|P:negative regulation of ryanodine-sensitive calcium-release channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(137145,'Experimental MF/BP Leaf Term GOA',NULL,7771,NULL,'GO:0035198|F:miRNA binding|IDA; GO:0001714|P:endodermal cell fate specification|IDA; GO:0030900|P:forebrain development|IEP; GO:0001649|P:osteoblast differentiation|IDA; GO:0021983|P:pituitary gland development|IEP',NULL,NULL,NULL,NULL,NULL),(137146,'Experimental MF/BP Leaf Term GOA',NULL,7772,NULL,'GO:0070182|F:DNA polymerase binding|IPI; GO:0098505|F:G-rich strand telomeric DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(137147,'Experimental MF/BP Leaf Term GOA',NULL,7773,NULL,'GO:0036122|F:BMP binding|IDA; GO:0098821|F:BMP receptor activity|IDA; GO:2000016|P:negative regulation of determination of dorsal identity|IDA',NULL,NULL,NULL,NULL,NULL),(137148,'Experimental MF/BP Leaf Term GOA',NULL,7774,NULL,'GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(137149,'Experimental MF/BP Leaf Term GOA',NULL,7775,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0001706|P:endoderm formation|IDA; GO:0042789|P:mRNA transcription by RNA polymerase II|IDA; GO:0031648|P:protein destabilization|IMP; GO:0050821|P:protein stabilization|IMP; GO:0072001|P:renal system development|IMP',NULL,NULL,NULL,NULL,NULL),(137150,'Experimental MF/BP Leaf Term GOA',NULL,7776,NULL,'GO:0050031|F:L-pipecolate oxidase activity|IDA; GO:0008115|F:sarcosine oxidase activity|IDA; GO:0033514|P:L-lysine catabolic process to acetyl-CoA via L-pipecolate|IDA',NULL,NULL,NULL,NULL,NULL),(137151,'Experimental MF/BP Leaf Term GOA',NULL,7777,NULL,'GO:0005164|F:tumor necrosis factor receptor binding|IDA; GO:0071316|P:cellular response to nicotine|IDA; GO:0002439|P:chronic inflammatory response to antigenic stimulus|IMP; GO:0050901|P:leukocyte tethering or rolling|IDA; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IDA; GO:0097527|P:necroptotic signaling pathway|IDA; GO:1903347|P:negative regulation of bicellular tight junction assembly|IDA; GO:0002740|P:negative regulation of cytokine secretion involved in immune response|IDA; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IDA; GO:0035509|P:negative regulation of myosin-light-chain-phosphatase activity|IDA; GO:0060559|P:positive regulation of calcidiol 1-monooxygenase activity|IDA; GO:0070886|P:positive regulation of calcineurin-NFAT signaling cascade|IDA; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IDA; GO:0045416|P:positive regulation of interleukin-8 biosynthetic process|IDA; GO:1904999|P:positive regulation of leukocyte adhesion to arterial endothelial cell|IDA; GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IDA; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IDA; GO:0071803|P:positive regulation of podosome assembly|IDA; GO:2000010|P:positive regulation of protein localization to cell surface|IDA; GO:1901671|P:positive regulation of superoxide dismutase activity|IDA; GO:0000060|P:protein import into nucleus, translocation|IDA; GO:0043491|P:protein kinase B signaling|IMP; GO:0030730|P:sequestering of triglyceride|IDA',NULL,NULL,NULL,NULL,NULL),(137152,'Experimental MF/BP Leaf Term GOA',NULL,7787,NULL,'GO:1904262|P:negative regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137153,'Experimental MF/BP Leaf Term GOA',NULL,7789,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137154,'Experimental MF/BP Leaf Term GOA',NULL,7796,NULL,'GO:0005524|F:ATP binding|IDA',NULL,NULL,NULL,NULL,NULL),(137155,'Experimental MF/BP Leaf Term GOA',NULL,7797,NULL,'GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:1904908|P:negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric|IMP; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IDA; GO:0070213|P:protein auto-ADP-ribosylation|IDA; GO:0070212|P:protein poly-ADP-ribosylation|IDA',NULL,NULL,NULL,NULL,NULL),(137156,'Experimental MF/BP Leaf Term GOA',NULL,7800,NULL,'GO:0090307|P:mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137157,'Experimental MF/BP Leaf Term GOA',NULL,7806,NULL,'GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IMP',NULL,NULL,NULL,NULL,NULL),(137158,'Experimental MF/BP Leaf Term GOA',NULL,7808,NULL,'GO:0071889|F:14-3-3 protein binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:2000210|P:positive regulation of anoikis|IMP',NULL,NULL,NULL,NULL,NULL),(137159,'Experimental MF/BP Leaf Term GOA',NULL,7811,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IDA',NULL,NULL,NULL,NULL,NULL),(137160,'Experimental MF/BP Leaf Term GOA',NULL,7812,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137161,'Experimental MF/BP Leaf Term GOA',NULL,7813,NULL,'GO:1990405|F:protein antigen binding|IPI; GO:0071349|P:cellular response to interleukin-12|IMP',NULL,NULL,NULL,NULL,NULL),(137162,'Experimental MF/BP Leaf Term GOA',NULL,7820,NULL,'GO:0032184|F:SUMO polymer binding|IDA',NULL,NULL,NULL,NULL,NULL),(137163,'Experimental MF/BP Leaf Term GOA',NULL,7826,NULL,'GO:0070403|F:NAD+ binding|IDA; GO:0061697|F:protein-glutaryllysine deglutarylase activity|IDA; GO:0036054|F:protein-malonyllysine demalonylase activity|IDA; GO:0036055|F:protein-succinyllysine desuccinylase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0036047|P:peptidyl-lysine demalonylation|IDA; GO:0036049|P:peptidyl-lysine desuccinylation|IDA',NULL,NULL,NULL,NULL,NULL),(137164,'Experimental MF/BP Leaf Term GOA',NULL,7827,NULL,'GO:0030346|F:protein phosphatase 2B binding|IDA; GO:0071872|P:cellular response to epinephrine stimulus|IMP; GO:0006883|P:cellular sodium ion homeostasis|IDA; GO:0070886|P:positive regulation of calcineurin-NFAT signaling cascade|IDA; GO:1903281|P:positive regulation of calcium:sodium antiporter activity|IMP; GO:0098735|P:positive regulation of the force of heart contraction|IMP; GO:0086092|P:regulation of the force of heart contraction by cardiac conduction|IMP; GO:0098719|P:sodium ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(137165,'Experimental MF/BP Leaf Term GOA',NULL,7834,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0097602|F:cullin family protein binding|IPI; GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(137166,'Experimental MF/BP Leaf Term GOA',NULL,7835,NULL,'GO:0050681|F:androgen receptor binding|IPI; GO:0070182|F:DNA polymerase binding|IPI; GO:0070577|F:lysine-acetylated histone binding|IDA; GO:0002039|F:p53 binding|IPI; GO:0001164|F:RNA polymerase I CORE element sequence-specific DNA binding|IDA; GO:0030957|F:Tat protein binding|IPI; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IMP; GO:0003407|P:neural retina development|IEP; GO:0043923|P:positive regulation by host of viral transcription|IMP; GO:1902661|P:positive regulation of glucose mediated signaling pathway|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IMP; GO:1901838|P:positive regulation of transcription of nucleolar large rRNA by RNA polymerase I|IMP',NULL,NULL,NULL,NULL,NULL),(137167,'Experimental MF/BP Leaf Term GOA',NULL,7838,NULL,'GO:0070411|F:I-SMAD binding|IPI; GO:0070412|F:R-SMAD binding|IPI; GO:0061736|P:engulfment of target by autophagosome|IMP; GO:1903861|P:positive regulation of dendrite extension|IDA; GO:0034394|P:protein localization to cell surface|IDA; GO:0061753|P:substrate localization to autophagosome|IMP; GO:0030579|P:ubiquitin-dependent SMAD protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(137168,'Experimental MF/BP Leaf Term GOA',NULL,7841,NULL,'GO:0004059|F:aralkylamine N-acetyltransferase activity|IDA; GO:0071320|P:cellular response to cAMP|IDA; GO:0030187|P:melatonin biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137169,'Experimental MF/BP Leaf Term GOA',NULL,7843,NULL,'GO:0046592|F:polyamine oxidase activity|IDA; GO:0046208|P:spermine catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(137170,'Experimental MF/BP Leaf Term GOA',NULL,7844,NULL,'GO:0061578|F:Lys63-specific deubiquitinase activity|EXP; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:2000349|P:negative regulation of CD40 signaling pathway|IMP; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IDA; GO:0050713|P:negative regulation of interleukin-1 beta secretion|IMP; GO:0034140|P:negative regulation of toll-like receptor 3 signaling pathway|IDA; GO:0035871|P:protein K11-linked deubiquitination|IDA; GO:0071108|P:protein K48-linked deubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA; GO:0072573|P:tolerance induction to lipopolysaccharide|IMP',NULL,NULL,NULL,NULL,NULL),(137171,'Experimental MF/BP Leaf Term GOA',NULL,7852,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IDA; GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA; GO:0071391|P:cellular response to estrogen stimulus|IEP; GO:0042270|P:protection from natural killer cell mediated cytotoxicity|IMP',NULL,NULL,NULL,NULL,NULL),(137172,'Experimental MF/BP Leaf Term GOA',NULL,7853,NULL,'GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0007256|P:activation of JNKK activity|IDA; GO:0030033|P:microvillus assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137173,'Experimental MF/BP Leaf Term GOA',NULL,7855,NULL,'GO:0005524|F:ATP binding|IDA; GO:0005516|F:calmodulin binding|IDA; GO:0017050|F:D-erythro-sphingosine kinase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0051721|F:protein phosphatase 2A binding|IPI; GO:0008481|F:sphinganine kinase activity|IDA; GO:0038036|F:sphingosine-1-phosphate receptor activity|IMP; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IMP; GO:0046512|P:sphingosine biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(137174,'Experimental MF/BP Leaf Term GOA',NULL,7856,NULL,'GO:0016250|F:N-sulfoglucosamine sulfohydrolase activity|IDA; GO:0030200|P:heparan sulfate proteoglycan catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(137175,'Experimental MF/BP Leaf Term GOA',NULL,7867,NULL,'GO:0050699|F:WW domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(137176,'Experimental MF/BP Leaf Term GOA',NULL,7873,NULL,'GO:0003828|F:alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity|IDA; GO:1990743|P:protein sialylation|IDA',NULL,NULL,NULL,NULL,NULL),(137177,'Experimental MF/BP Leaf Term GOA',NULL,7874,NULL,'GO:0003828|F:alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137178,'Experimental MF/BP Leaf Term GOA',NULL,7878,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0034983|P:peptidyl-lysine deacetylation|IMP',NULL,NULL,NULL,NULL,NULL),(137179,'Experimental MF/BP Leaf Term GOA',NULL,7879,NULL,'GO:0070300|F:phosphatidic acid binding|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(137180,'Experimental MF/BP Leaf Term GOA',NULL,7883,NULL,'GO:0021798|P:forebrain dorsal/ventral pattern formation|IDA',NULL,NULL,NULL,NULL,NULL),(137181,'Experimental MF/BP Leaf Term GOA',NULL,7885,NULL,'GO:0035035|F:histone acetyltransferase binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:0070403|F:NAD+ binding|IDA; GO:0046970|F:NAD-dependent histone deacetylase activity (H4-K16 specific)|IDA; GO:0042903|F:tubulin deacetylase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0035729|P:cellular response to hepatocyte growth factor stimulus|IDA; GO:0071456|P:cellular response to hypoxia|IDA; GO:0048012|P:hepatocyte growth factor receptor signaling pathway|IDA; GO:0061428|P:negative regulation of transcription from RNA polymerase II promoter in response to hypoxia|IMP; GO:0034983|P:peptidyl-lysine deacetylation|IDA; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IMP; GO:2000777|P:positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia|IMP; GO:0043491|P:protein kinase B signaling|IMP; GO:0090042|P:tubulin deacetylation|IDA',NULL,NULL,NULL,NULL,NULL),(137182,'Experimental MF/BP Leaf Term GOA',NULL,7886,NULL,'GO:0097484|P:dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(137183,'Experimental MF/BP Leaf Term GOA',NULL,7888,NULL,'GO:0034260|P:negative regulation of GTPase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137184,'Experimental MF/BP Leaf Term GOA',NULL,7889,NULL,'GO:0070410|F:co-SMAD binding|IPI; GO:0097718|F:disordered domain specific binding|IPI; GO:0070411|F:I-SMAD binding|IPI; GO:0070878|F:primary miRNA binding|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0070412|F:R-SMAD binding|IPI; GO:0030618|F:transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|IDA; GO:0034713|F:type I transforming growth factor beta receptor binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0007182|P:common-partner SMAD protein phosphorylation|IDA; GO:1900224|P:positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry|IMP; GO:0007183|P:SMAD protein complex assembly|IDA; GO:0007352|P:zygotic specification of dorsal/ventral axis|IMP',NULL,NULL,NULL,NULL,NULL),(137185,'Experimental MF/BP Leaf Term GOA',NULL,7890,NULL,'GO:0036310|F:annealing helicase activity|IDA; GO:0007420|P:brain development|IMP',NULL,NULL,NULL,NULL,NULL),(137186,'Experimental MF/BP Leaf Term GOA',NULL,7899,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137187,'Experimental MF/BP Leaf Term GOA',NULL,7902,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137188,'Experimental MF/BP Leaf Term GOA',NULL,7904,NULL,'GO:0001618|F:virus receptor activity|IDA; GO:0035425|P:autocrine signaling|IMP; GO:0043508|P:negative regulation of JUN kinase activity|IMP; GO:0038001|P:paracrine signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137189,'Experimental MF/BP Leaf Term GOA',NULL,7906,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0004766|F:spermidine synthase activity|IDA; GO:0008295|P:spermidine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137190,'Experimental MF/BP Leaf Term GOA',NULL,7908,NULL,'GO:0044027|P:hypermethylation of CpG island|IDA; GO:0061614|P:pri-miRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(137191,'Experimental MF/BP Leaf Term GOA',NULL,7914,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0090309|P:positive regulation of methylation-dependent chromatin silencing|IMP',NULL,NULL,NULL,NULL,NULL),(137192,'Experimental MF/BP Leaf Term GOA',NULL,7920,NULL,'GO:2001034|P:positive regulation of double-strand break repair via nonhomologous end joining|IDA',NULL,NULL,NULL,NULL,NULL),(137193,'Experimental MF/BP Leaf Term GOA',NULL,7923,NULL,'GO:0046969|F:NAD-dependent histone deacetylase activity (H3-K9 specific)|IDA; GO:1905555|P:positive regulation blood vessel branching|IMP; GO:1902732|P:positive regulation of chondrocyte proliferation|IMP; GO:0031940|P:positive regulation of chromatin silencing at telomere|IMP; GO:1905549|P:positive regulation of telomeric heterochromatin assembly|IMP; GO:1905564|P:positive regulation of vascular endothelial cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(137194,'Experimental MF/BP Leaf Term GOA',NULL,7927,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1990166|P:protein localization to site of double-strand break|IDA',NULL,NULL,NULL,NULL,NULL),(137195,'Experimental MF/BP Leaf Term GOA',NULL,7928,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1990166|P:protein localization to site of double-strand break|IDA',NULL,NULL,NULL,NULL,NULL),(137196,'Experimental MF/BP Leaf Term GOA',NULL,7930,NULL,'GO:0060173|P:limb development|IMP',NULL,NULL,NULL,NULL,NULL),(137197,'Experimental MF/BP Leaf Term GOA',NULL,7935,NULL,'GO:0034498|P:early endosome to Golgi transport|IMP',NULL,NULL,NULL,NULL,NULL),(137198,'Experimental MF/BP Leaf Term GOA',NULL,7937,NULL,'GO:0007175|P:negative regulation of epidermal growth factor-activated receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137199,'Experimental MF/BP Leaf Term GOA',NULL,7939,NULL,'GO:0030306|F:ADP-ribosylation factor binding|IPI; GO:0001540|F:amyloid-beta binding|IDA; GO:0030169|F:low-density lipoprotein particle binding|IPI; GO:1902430|P:negative regulation of amyloid-beta formation|IDA; GO:1902960|P:negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process|IDA; GO:1902963|P:negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process|IMP; GO:1902955|P:positive regulation of early endosome to recycling endosome transport|IMP; GO:2001137|P:positive regulation of endocytic recycling|IMP; GO:1902953|P:positive regulation of ER to Golgi vesicle-mediated transport|IMP; GO:1902966|P:positive regulation of protein localization to early endosome|IMP; GO:0045053|P:protein retention in Golgi apparatus|IDA',NULL,NULL,NULL,NULL,NULL),(137200,'Experimental MF/BP Leaf Term GOA',NULL,7940,NULL,'GO:0007250|P:activation of NF-kappaB-inducing kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137201,'Experimental MF/BP Leaf Term GOA',NULL,7947,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001946|P:lymphangiogenesis|IMP; GO:0042789|P:mRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(137202,'Experimental MF/BP Leaf Term GOA',NULL,7949,NULL,'GO:0034236|F:protein kinase A catalytic subunit binding|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0003180|P:aortic valve morphogenesis|IDA; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071300|P:cellular response to retinoic acid|IEP; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:0008584|P:male gonad development|IMP; GO:1902894|P:negative regulation of pri-miRNA transcription by RNA polymerase II|IDA; GO:0030850|P:prostate gland development|IEP',NULL,NULL,NULL,NULL,NULL),(137203,'Experimental MF/BP Leaf Term GOA',NULL,7954,NULL,'GO:0000070|P:mitotic sister chromatid segregation|IMP; GO:1905832|P:positive regulation of spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137204,'Experimental MF/BP Leaf Term GOA',NULL,7959,NULL,'GO:0051721|F:protein phosphatase 2A binding|IDA',NULL,NULL,NULL,NULL,NULL),(137205,'Experimental MF/BP Leaf Term GOA',NULL,7965,NULL,'GO:0017151|F:DEAD/H-box RNA helicase binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137206,'Experimental MF/BP Leaf Term GOA',NULL,7968,NULL,'GO:2000642|P:negative regulation of early endosome to late endosome transport|IDA',NULL,NULL,NULL,NULL,NULL),(137207,'Experimental MF/BP Leaf Term GOA',NULL,7975,NULL,'GO:0005159|F:insulin-like growth factor receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(137208,'Experimental MF/BP Leaf Term GOA',NULL,7977,NULL,'GO:0042532|P:negative regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(137209,'Experimental MF/BP Leaf Term GOA',NULL,7978,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0034736|F:cholesterol O-acyltransferase activity|IDA; GO:0033344|P:cholesterol efflux|IMP; GO:0034435|P:cholesterol esterification|IDA; GO:0034379|P:very-low-density lipoprotein particle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137210,'Experimental MF/BP Leaf Term GOA',NULL,7979,NULL,'GO:2000009|P:negative regulation of protein localization to cell surface|IDA; GO:0097320|P:plasma membrane tubulation|IDA; GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IDA; GO:2000010|P:positive regulation of protein localization to cell surface|IDA',NULL,NULL,NULL,NULL,NULL),(137211,'Experimental MF/BP Leaf Term GOA',NULL,7984,NULL,'GO:0033615|P:mitochondrial proton-transporting ATP synthase complex assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137212,'Experimental MF/BP Leaf Term GOA',NULL,7988,NULL,'GO:0048298|P:positive regulation of isotype switching to IgA isotypes|IDA',NULL,NULL,NULL,NULL,NULL),(137213,'Experimental MF/BP Leaf Term GOA',NULL,7989,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IDA; GO:0071260|P:cellular response to mechanical stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(137214,'Experimental MF/BP Leaf Term GOA',NULL,7992,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0042826|F:histone deacetylase binding|IPI; GO:0071837|F:HMG box domain binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0043923|P:positive regulation by host of viral transcription|IDA; GO:1904828|P:positive regulation of hydrogen sulfide biosynthetic process|IDA; GO:1905564|P:positive regulation of vascular endothelial cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(137215,'Experimental MF/BP Leaf Term GOA',NULL,7994,NULL,'GO:0060218|P:hematopoietic stem cell differentiation|IDA; GO:0001649|P:osteoblast differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(137216,'Experimental MF/BP Leaf Term GOA',NULL,8000,NULL,'GO:0022617|P:extracellular matrix disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(137217,'Experimental MF/BP Leaf Term GOA',NULL,8005,NULL,'GO:2000352|P:negative regulation of endothelial cell apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(137218,'Experimental MF/BP Leaf Term GOA',NULL,8006,NULL,'GO:0001205|F:distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IMP',NULL,NULL,NULL,NULL,NULL),(137219,'Experimental MF/BP Leaf Term GOA',NULL,8012,NULL,'GO:0042169|F:SH2 domain binding|IPI; GO:0001958|P:endochondral ossification|IMP',NULL,NULL,NULL,NULL,NULL),(137220,'Experimental MF/BP Leaf Term GOA',NULL,8013,NULL,'GO:0007420|P:brain development|IDA',NULL,NULL,NULL,NULL,NULL),(137221,'Experimental MF/BP Leaf Term GOA',NULL,8015,NULL,'GO:0035176|P:social behavior|IMP',NULL,NULL,NULL,NULL,NULL),(137222,'Experimental MF/BP Leaf Term GOA',NULL,8025,NULL,'GO:0098719|P:sodium ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(137223,'Experimental MF/BP Leaf Term GOA',NULL,8026,NULL,'GO:0048495|F:Roundabout binding|IPI; GO:0048846|P:axon extension involved in axon guidance|IDA',NULL,NULL,NULL,NULL,NULL),(137224,'Experimental MF/BP Leaf Term GOA',NULL,8030,NULL,'GO:0036345|P:platelet maturation|IMP',NULL,NULL,NULL,NULL,NULL),(137225,'Experimental MF/BP Leaf Term GOA',NULL,8031,NULL,'GO:0030628|F:pre-mRNA 3\'-splice site binding|IDA; GO:0000386|F:second spliceosomal transesterification activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137226,'Experimental MF/BP Leaf Term GOA',NULL,8035,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137227,'Experimental MF/BP Leaf Term GOA',NULL,8039,NULL,'GO:0005524|F:ATP binding|IDA; GO:0016584|P:nucleosome positioning|IDA',NULL,NULL,NULL,NULL,NULL),(137228,'Experimental MF/BP Leaf Term GOA',NULL,8045,NULL,'GO:1905172|F:RISC complex binding|IDA; GO:0010587|P:miRNA catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(137229,'Experimental MF/BP Leaf Term GOA',NULL,8046,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:0050998|F:nitric-oxide synthase binding|IPI; GO:1902083|P:negative regulation of peptidyl-cysteine S-nitrosylation|IMP; GO:0086005|P:ventricular cardiac muscle cell action potential|IMP',NULL,NULL,NULL,NULL,NULL),(137230,'Experimental MF/BP Leaf Term GOA',NULL,8048,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(137231,'Experimental MF/BP Leaf Term GOA',NULL,8049,NULL,'GO:0050353|F:trimethyllysine dioxygenase activity|IDA; GO:0045329|P:carnitine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137232,'Experimental MF/BP Leaf Term GOA',NULL,8050,NULL,'GO:0048185|F:activin binding|IPI; GO:0008013|F:beta-catenin binding|IPI; GO:0070411|F:I-SMAD binding|IPI; GO:0030617|F:transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|IDA; GO:0034713|F:type I transforming growth factor beta receptor binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IMP; GO:0060394|P:negative regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0010801|P:negative regulation of peptidyl-threonine phosphorylation|IDA; GO:0010944|P:negative regulation of transcription by competitive promoter binding|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(137233,'Experimental MF/BP Leaf Term GOA',NULL,8051,NULL,'GO:0097352|P:autophagosome maturation|IMP; GO:0016240|P:autophagosome membrane docking|IDA',NULL,NULL,NULL,NULL,NULL),(137234,'Experimental MF/BP Leaf Term GOA',NULL,8053,NULL,'GO:0030145|F:manganese ion binding|IDA; GO:0004784|F:superoxide dismutase activity|IDA; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IDA; GO:0032364|P:oxygen homeostasis|IMP; GO:1905461|P:positive regulation of vascular associated smooth muscle cell apoptotic process|IDA; GO:1905932|P:positive regulation of vascular smooth muscle cell differentiation involved in phenotypic switching|IDA; GO:0051289|P:protein homotetramerization|IPI; GO:0019430|P:removal of superoxide radicals|IMP',NULL,NULL,NULL,NULL,NULL),(137235,'Experimental MF/BP Leaf Term GOA',NULL,8054,NULL,'GO:0071374|P:cellular response to parathyroid hormone stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(137236,'Experimental MF/BP Leaf Term GOA',NULL,8057,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0006977|P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|IMP; GO:2000761|P:positive regulation of N-terminal peptidyl-lysine acetylation|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(137237,'Experimental MF/BP Leaf Term GOA',NULL,8061,NULL,'GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071380|P:cellular response to prostaglandin E stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(137238,'Experimental MF/BP Leaf Term GOA',NULL,8063,NULL,'GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA',NULL,NULL,NULL,NULL,NULL),(137239,'Experimental MF/BP Leaf Term GOA',NULL,8068,NULL,'GO:0042169|F:SH2 domain binding|IMP',NULL,NULL,NULL,NULL,NULL),(137240,'Experimental MF/BP Leaf Term GOA',NULL,8073,NULL,'GO:2000349|P:negative regulation of CD40 signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137241,'Experimental MF/BP Leaf Term GOA',NULL,8077,NULL,'GO:0016608|F:growth hormone-releasing hormone activity|IDA; GO:0031770|F:growth hormone-releasing hormone receptor binding|IPI; GO:0030252|P:growth hormone secretion|IDA; GO:0060124|P:positive regulation of growth hormone secretion|IDA; GO:0040018|P:positive regulation of multicellular organism growth|IMP',NULL,NULL,NULL,NULL,NULL),(137242,'Experimental MF/BP Leaf Term GOA',NULL,8079,NULL,'GO:0050910|P:detection of mechanical stimulus involved in sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(137243,'Experimental MF/BP Leaf Term GOA',NULL,8082,NULL,'GO:0070410|F:co-SMAD binding|IPI; GO:0017151|F:DEAD/H-box RNA helicase binding|IPI; GO:0070411|F:I-SMAD binding|IPI; GO:0070878|F:primary miRNA binding|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0007183|P:SMAD protein complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137244,'Experimental MF/BP Leaf Term GOA',NULL,8087,NULL,'GO:0005113|F:patched binding|IPI; GO:0060248|P:detection of cell density by contact stimulus involved in contact inhibition|IMP; GO:0072001|P:renal system development|IEP',NULL,NULL,NULL,NULL,NULL),(137245,'Experimental MF/BP Leaf Term GOA',NULL,8089,NULL,'GO:0002553|P:histamine secretion by mast cell|IMP',NULL,NULL,NULL,NULL,NULL),(137246,'Experimental MF/BP Leaf Term GOA',NULL,8093,NULL,'GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0097352|P:autophagosome maturation|IMP',NULL,NULL,NULL,NULL,NULL),(137247,'Experimental MF/BP Leaf Term GOA',NULL,8094,NULL,'GO:1905515|P:non-motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137248,'Experimental MF/BP Leaf Term GOA',NULL,8096,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0045022|P:early endosome to late endosome transport|IMP; GO:1903543|P:positive regulation of exosomal secretion|IMP; GO:0010797|P:regulation of multivesicular body size involved in endosome transport|IMP; GO:0061635|P:regulation of protein complex stability|IMP',NULL,NULL,NULL,NULL,NULL),(137249,'Experimental MF/BP Leaf Term GOA',NULL,8098,NULL,'GO:0005158|F:insulin receptor binding|IDA; GO:1990460|F:leptin receptor binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:1990459|F:transferrin receptor binding|IDA; GO:0034498|P:early endosome to Golgi transport|IMP; GO:0072673|P:lamellipodium morphogenesis|IDA',NULL,NULL,NULL,NULL,NULL),(137250,'Experimental MF/BP Leaf Term GOA',NULL,8104,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0070676|P:intralumenal vesicle formation|IMP; GO:2000642|P:negative regulation of early endosome to late endosome transport|IDA',NULL,NULL,NULL,NULL,NULL),(137251,'Experimental MF/BP Leaf Term GOA',NULL,8114,NULL,'GO:0051865|P:protein autoubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(137252,'Experimental MF/BP Leaf Term GOA',NULL,8117,NULL,'GO:0052798|F:beta-galactoside alpha-2,3-sialyltransferase activity|IDA; GO:0071354|P:cellular response to interleukin-6|IEP',NULL,NULL,NULL,NULL,NULL),(137253,'Experimental MF/BP Leaf Term GOA',NULL,8118,NULL,'GO:0003835|F:beta-galactoside alpha-2,6-sialyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137254,'Experimental MF/BP Leaf Term GOA',NULL,8119,NULL,'GO:2001034|P:positive regulation of double-strand break repair via nonhomologous end joining|IDA',NULL,NULL,NULL,NULL,NULL),(137255,'Experimental MF/BP Leaf Term GOA',NULL,8121,NULL,'GO:0005070|F:SH3/SH2 adaptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137256,'Experimental MF/BP Leaf Term GOA',NULL,8123,NULL,'GO:0033130|F:acetylcholine receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(137257,'Experimental MF/BP Leaf Term GOA',NULL,8126,NULL,'GO:0042795|P:snRNA transcription by RNA polymerase II|IDA; GO:0042796|P:snRNA transcription by RNA polymerase III|IDA',NULL,NULL,NULL,NULL,NULL),(137258,'Experimental MF/BP Leaf Term GOA',NULL,8128,NULL,'GO:0002039|F:p53 binding|IPI',NULL,NULL,NULL,NULL,NULL),(137259,'Experimental MF/BP Leaf Term GOA',NULL,8129,NULL,'GO:0070410|F:co-SMAD binding|IPI; GO:0070411|F:I-SMAD binding|IPI; GO:0070412|F:R-SMAD binding|IPI; GO:0030617|F:transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|IDA; GO:0070698|F:type I activin receptor binding|IDA; GO:0034713|F:type I transforming growth factor beta receptor binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0003180|P:aortic valve morphogenesis|IMP; GO:0060394|P:negative regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0010991|P:negative regulation of SMAD protein complex assembly|IDA; GO:0007352|P:zygotic specification of dorsal/ventral axis|IMP',NULL,NULL,NULL,NULL,NULL),(137260,'Experimental MF/BP Leaf Term GOA',NULL,8130,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(137261,'Experimental MF/BP Leaf Term GOA',NULL,8134,NULL,'GO:0045022|P:early endosome to late endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(137262,'Experimental MF/BP Leaf Term GOA',NULL,8136,NULL,'GO:0034452|F:dynactin binding|IDA',NULL,NULL,NULL,NULL,NULL),(137263,'Experimental MF/BP Leaf Term GOA',NULL,8137,NULL,'GO:1990502|P:dense core granule maturation|IGI',NULL,NULL,NULL,NULL,NULL),(137264,'Experimental MF/BP Leaf Term GOA',NULL,8139,NULL,'GO:0005545|F:1-phosphatidylinositol binding|IDA; GO:0071933|F:Arp2/3 complex binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0097320|P:plasma membrane tubulation|IDA; GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IDA',NULL,NULL,NULL,NULL,NULL),(137265,'Experimental MF/BP Leaf Term GOA',NULL,8147,NULL,'GO:0008083|F:growth factor activity|IPI; GO:0005131|F:growth hormone receptor binding|IDA; GO:0005148|F:prolactin receptor binding|IDA; GO:0070977|P:bone maturation|IDA; GO:0010536|P:positive regulation of activation of Janus kinase activity|IDA; GO:0043568|P:positive regulation of insulin-like growth factor receptor signaling pathway|IDA; GO:0040018|P:positive regulation of multicellular organism growth|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(137266,'Experimental MF/BP Leaf Term GOA',NULL,8148,NULL,'GO:0030970|P:retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(137267,'Experimental MF/BP Leaf Term GOA',NULL,8150,NULL,'GO:0045499|F:chemorepellent activity|IDA',NULL,NULL,NULL,NULL,NULL),(137268,'Experimental MF/BP Leaf Term GOA',NULL,8154,NULL,'GO:0008270|F:zinc ion binding|IMP; GO:1900005|P:positive regulation of serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137269,'Experimental MF/BP Leaf Term GOA',NULL,8155,NULL,'GO:0009597|P:detection of virus|IDA',NULL,NULL,NULL,NULL,NULL),(137270,'Experimental MF/BP Leaf Term GOA',NULL,8156,NULL,'GO:0009597|P:detection of virus|IDA',NULL,NULL,NULL,NULL,NULL),(137271,'Experimental MF/BP Leaf Term GOA',NULL,8161,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(137272,'Experimental MF/BP Leaf Term GOA',NULL,8164,NULL,'GO:0010457|P:centriole-centriole cohesion|IDA; GO:0071962|P:mitotic sister chromatid cohesion, centromeric|IMP',NULL,NULL,NULL,NULL,NULL),(137273,'Experimental MF/BP Leaf Term GOA',NULL,8166,NULL,'GO:0005175|F:CD27 receptor binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0006924|P:activation-induced cell death of T cells|IDA',NULL,NULL,NULL,NULL,NULL),(137274,'Experimental MF/BP Leaf Term GOA',NULL,8171,NULL,'GO:0008518|F:folate:anion antiporter activity|IDA; GO:1904447|P:folate import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(137275,'Experimental MF/BP Leaf Term GOA',NULL,8172,NULL,'GO:0050692|F:DBD domain binding|IDA; GO:0050693|F:LBD domain binding|IDA; GO:0004879|F:nuclear receptor activity|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0001972|F:retinoic acid binding|IDA; GO:0044323|F:retinoic acid-responsive element binding|IDA; GO:0042809|F:vitamin D receptor binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0035357|P:peroxisome proliferator activated receptor signaling pathway|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(137276,'Experimental MF/BP Leaf Term GOA',NULL,8174,NULL,'GO:0038036|F:sphingosine-1-phosphate receptor activity|IDA; GO:0003376|P:sphingosine-1-phosphate receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137277,'Experimental MF/BP Leaf Term GOA',NULL,8175,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0051894|P:positive regulation of focal adhesion assembly|IMP; GO:0051496|P:positive regulation of stress fiber assembly|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(137278,'Experimental MF/BP Leaf Term GOA',NULL,8177,NULL,'GO:1903141|P:negative regulation of establishment of endothelial barrier|IMP',NULL,NULL,NULL,NULL,NULL),(137279,'Experimental MF/BP Leaf Term GOA',NULL,8180,NULL,'GO:1990034|P:calcium ion export across plasma membrane|IMP',NULL,NULL,NULL,NULL,NULL),(137280,'Experimental MF/BP Leaf Term GOA',NULL,8189,NULL,'GO:0046715|F:active borate transmembrane transporter activity|IDA; GO:0015701|P:bicarbonate transport|IDA',NULL,NULL,NULL,NULL,NULL),(137281,'Experimental MF/BP Leaf Term GOA',NULL,8196,NULL,'GO:0032217|F:riboflavin transmembrane transporter activity|IDA; GO:0032218|P:riboflavin transport|IDA',NULL,NULL,NULL,NULL,NULL),(137282,'Experimental MF/BP Leaf Term GOA',NULL,8197,NULL,'GO:0051087|F:chaperone binding|IDA; GO:0030544|F:Hsp70 protein binding|IPI; GO:0070628|F:proteasome binding|IPI',NULL,NULL,NULL,NULL,NULL),(137283,'Experimental MF/BP Leaf Term GOA',NULL,8198,NULL,'GO:0042407|P:cristae formation|IMP; GO:0045040|P:protein import into mitochondrial outer membrane|IDA',NULL,NULL,NULL,NULL,NULL),(137284,'Experimental MF/BP Leaf Term GOA',NULL,8200,NULL,'GO:1904047|F:S-adenosyl-L-methionine binding|IDA; GO:1904262|P:negative regulation of TORC1 signaling|IDA',NULL,NULL,NULL,NULL,NULL),(137285,'Experimental MF/BP Leaf Term GOA',NULL,8202,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137286,'Experimental MF/BP Leaf Term GOA',NULL,8210,NULL,'GO:0015881|P:creatine transmembrane transport|IMP',NULL,NULL,NULL,NULL,NULL),(137287,'Experimental MF/BP Leaf Term GOA',NULL,8212,NULL,'GO:0050699|F:WW domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(137288,'Experimental MF/BP Leaf Term GOA',NULL,8213,NULL,'GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137289,'Experimental MF/BP Leaf Term GOA',NULL,8216,NULL,'GO:0061635|P:regulation of protein complex stability|IMP',NULL,NULL,NULL,NULL,NULL),(137290,'Experimental MF/BP Leaf Term GOA',NULL,8217,NULL,'GO:0008260|F:3-oxoacid CoA-transferase activity|IMP',NULL,NULL,NULL,NULL,NULL),(137291,'Experimental MF/BP Leaf Term GOA',NULL,8218,NULL,'GO:0060048|P:cardiac muscle contraction|IMP; GO:0060371|P:regulation of atrial cardiac muscle cell membrane depolarization|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(137292,'Experimental MF/BP Leaf Term GOA',NULL,8220,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0086014|P:atrial cardiac muscle cell action potential|IMP; GO:0060048|P:cardiac muscle contraction|IMP; GO:0060371|P:regulation of atrial cardiac muscle cell membrane depolarization|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0060373|P:regulation of ventricular cardiac muscle cell membrane depolarization|IMP; GO:0086005|P:ventricular cardiac muscle cell action potential|IMP',NULL,NULL,NULL,NULL,NULL),(137293,'Experimental MF/BP Leaf Term GOA',NULL,8224,NULL,'GO:0071787|P:endoplasmic reticulum tubular network formation|IDA',NULL,NULL,NULL,NULL,NULL),(137294,'Experimental MF/BP Leaf Term GOA',NULL,8226,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0000045|P:autophagosome assembly|IDA; GO:0071353|P:cellular response to interleukin-4|IDA',NULL,NULL,NULL,NULL,NULL),(137295,'Experimental MF/BP Leaf Term GOA',NULL,8228,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137296,'Experimental MF/BP Leaf Term GOA',NULL,8231,NULL,'GO:0070488|P:neutrophil aggregation|IDA; GO:0030593|P:neutrophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(137297,'Experimental MF/BP Leaf Term GOA',NULL,8232,NULL,'GO:0005452|F:inorganic anion exchanger activity|IDA; GO:0015347|F:sodium-independent organic anion transmembrane transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(137298,'Experimental MF/BP Leaf Term GOA',NULL,8236,NULL,'GO:0030165|F:PDZ domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(137299,'Experimental MF/BP Leaf Term GOA',NULL,8241,NULL,'GO:0090026|P:positive regulation of monocyte chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(137300,'Experimental MF/BP Leaf Term GOA',NULL,8244,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(137301,'Experimental MF/BP Leaf Term GOA',NULL,8246,NULL,'GO:0034058|P:endosomal vesicle fusion|IDA',NULL,NULL,NULL,NULL,NULL),(137302,'Experimental MF/BP Leaf Term GOA',NULL,8251,NULL,'GO:0005307|F:choline:sodium symporter activity|IMP; GO:0008292|P:acetylcholine biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(137303,'Experimental MF/BP Leaf Term GOA',NULL,8253,NULL,'GO:0004768|F:stearoyl-CoA 9-desaturase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137304,'Experimental MF/BP Leaf Term GOA',NULL,8254,NULL,'GO:0008201|F:heparin binding|IDA; GO:0036143|F:kringle domain binding|IPI; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(137305,'Experimental MF/BP Leaf Term GOA',NULL,8257,NULL,'GO:0015055|F:secretin receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137306,'Experimental MF/BP Leaf Term GOA',NULL,8260,NULL,'GO:0000095|F:S-adenosyl-L-methionine transmembrane transporter activity|IMP',NULL,NULL,NULL,NULL,NULL),(137307,'Experimental MF/BP Leaf Term GOA',NULL,8267,NULL,'GO:0032933|P:SREBP signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(137308,'Experimental MF/BP Leaf Term GOA',NULL,8272,NULL,'GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1904263|P:positive regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137309,'Experimental MF/BP Leaf Term GOA',NULL,8273,NULL,'GO:0051117|F:ATPase binding|IPI; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0045454|P:cell redox homeostasis|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:2000110|P:negative regulation of macrophage apoptotic process|IMP; GO:0051771|P:negative regulation of nitric-oxide synthase biosynthetic process|IMP; GO:0080164|P:regulation of nitric oxide metabolic process|IMP; GO:0030970|P:retrograde protein transport, ER to cytosol|IDA',NULL,NULL,NULL,NULL,NULL),(137310,'Experimental MF/BP Leaf Term GOA',NULL,8274,NULL,'GO:0006388|P:tRNA splicing, via endonucleolytic cleavage and ligation|IDA',NULL,NULL,NULL,NULL,NULL),(137311,'Experimental MF/BP Leaf Term GOA',NULL,8277,NULL,'GO:0021772|P:olfactory bulb development|IMP',NULL,NULL,NULL,NULL,NULL),(137312,'Experimental MF/BP Leaf Term GOA',NULL,8280,NULL,'GO:0046974|F:histone methyltransferase activity (H3-K9 specific)|IDA',NULL,NULL,NULL,NULL,NULL),(137313,'Experimental MF/BP Leaf Term GOA',NULL,8282,NULL,'GO:0008228|P:opsonization|IMP',NULL,NULL,NULL,NULL,NULL),(137314,'Experimental MF/BP Leaf Term GOA',NULL,8293,NULL,'GO:0001784|F:phosphotyrosine residue binding|IPI',NULL,NULL,NULL,NULL,NULL),(137315,'Experimental MF/BP Leaf Term GOA',NULL,8295,NULL,'GO:0003836|F:beta-galactoside (CMP) alpha-2,3-sialyltransferase activity|IDA; GO:0047288|F:monosialoganglioside sialyltransferase activity|IDA; GO:0030259|P:lipid glycosylation|IDA; GO:1990743|P:protein sialylation|IDA',NULL,NULL,NULL,NULL,NULL),(137316,'Experimental MF/BP Leaf Term GOA',NULL,8300,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137317,'Experimental MF/BP Leaf Term GOA',NULL,8306,NULL,'GO:0071320|P:cellular response to cAMP|IEP',NULL,NULL,NULL,NULL,NULL),(137318,'Experimental MF/BP Leaf Term GOA',NULL,8308,NULL,'GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0043000|P:Golgi to plasma membrane CFTR protein transport|IMP; GO:0070973|P:protein localization to endoplasmic reticulum exit site|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(137319,'Experimental MF/BP Leaf Term GOA',NULL,8309,NULL,'GO:0007283|P:spermatogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(137320,'Experimental MF/BP Leaf Term GOA',NULL,8312,NULL,'GO:0090110|P:cargo loading into COPII-coated vesicle|IDA',NULL,NULL,NULL,NULL,NULL),(137321,'Experimental MF/BP Leaf Term GOA',NULL,8315,NULL,'GO:0086062|F:voltage-gated sodium channel activity involved in Purkinje myocyte action potential|IMP; GO:0060048|P:cardiac muscle contraction|IMP; GO:0086047|P:membrane depolarization during Purkinje myocyte cell action potential|IMP; GO:0060371|P:regulation of atrial cardiac muscle cell membrane depolarization|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(137322,'Experimental MF/BP Leaf Term GOA',NULL,8317,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137323,'Experimental MF/BP Leaf Term GOA',NULL,8320,NULL,'GO:0034553|P:mitochondrial respiratory chain complex II assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137324,'Experimental MF/BP Leaf Term GOA',NULL,8326,NULL,'GO:0045454|P:cell redox homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(137325,'Experimental MF/BP Leaf Term GOA',NULL,8334,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0046975|F:histone methyltransferase activity (H3-K36 specific)|IDA; GO:0097676|P:histone H3-K36 dimethylation|IDA; GO:0097198|P:histone H3-K36 trimethylation|IDA; GO:0006368|P:transcription elongation from RNA polymerase II promoter|IMP',NULL,NULL,NULL,NULL,NULL),(137326,'Experimental MF/BP Leaf Term GOA',NULL,8336,NULL,'GO:0030317|P:flagellated sperm motility|IMP; GO:0007338|P:single fertilization|IMP',NULL,NULL,NULL,NULL,NULL),(137327,'Experimental MF/BP Leaf Term GOA',NULL,8338,NULL,'GO:0030165|F:PDZ domain binding|IPI; GO:0060731|P:positive regulation of intestinal epithelial structure maintenance|IMP; GO:0052106|P:quorum sensing involved in interaction with host|IMP; GO:0070715|P:sodium-dependent organic cation transport|IDA',NULL,NULL,NULL,NULL,NULL),(137328,'Experimental MF/BP Leaf Term GOA',NULL,8339,NULL,'GO:0017134|F:fibroblast growth factor binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0050786|F:RAGE receptor binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0050703|P:interleukin-1 alpha secretion|IDA',NULL,NULL,NULL,NULL,NULL),(137329,'Experimental MF/BP Leaf Term GOA',NULL,8348,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0030325|P:adrenal gland development|IEP; GO:0042733|P:embryonic digit morphogenesis|IMP; GO:0060173|P:limb development|IMP; GO:0061034|P:olfactory bulb mitral cell layer development|IMP; GO:0042473|P:outer ear morphogenesis|IMP; GO:0021983|P:pituitary gland development|IEP',NULL,NULL,NULL,NULL,NULL),(137330,'Experimental MF/BP Leaf Term GOA',NULL,8350,NULL,'GO:0001849|F:complement component C1q binding|IDA; GO:0046790|F:virion binding|IDA; GO:0044869|P:negative regulation by host of viral exo-alpha-sialidase activity|IDA; GO:0044871|P:negative regulation by host of viral glycoprotein metabolic process|IDA; GO:0045656|P:negative regulation of monocyte differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(137331,'Experimental MF/BP Leaf Term GOA',NULL,8353,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0042733|P:embryonic digit morphogenesis|IMP; GO:0035115|P:embryonic forelimb morphogenesis|IMP; GO:0046884|P:follicle-stimulating hormone secretion|IMP; GO:0032275|P:luteinizing hormone secretion|IMP; GO:0030539|P:male genitalia development|IMP; GO:0030879|P:mammary gland development|IMP',NULL,NULL,NULL,NULL,NULL),(137332,'Experimental MF/BP Leaf Term GOA',NULL,8354,NULL,'GO:0035115|P:embryonic forelimb morphogenesis|IMP; GO:0060044|P:negative regulation of cardiac muscle cell proliferation|IDA; GO:0060039|P:pericardium development|IDA',NULL,NULL,NULL,NULL,NULL),(137333,'Experimental MF/BP Leaf Term GOA',NULL,8358,NULL,'GO:0005330|F:dopamine:sodium symporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(137334,'Experimental MF/BP Leaf Term GOA',NULL,8359,NULL,'GO:0008584|P:male gonad development|IEP',NULL,NULL,NULL,NULL,NULL),(137335,'Experimental MF/BP Leaf Term GOA',NULL,8360,NULL,'GO:0070306|P:lens fiber cell differentiation|IMP; GO:0002089|P:lens morphogenesis in camera-type eye|IMP',NULL,NULL,NULL,NULL,NULL),(137336,'Experimental MF/BP Leaf Term GOA',NULL,8361,NULL,'GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0016559|P:peroxisome fission|IMP',NULL,NULL,NULL,NULL,NULL),(137337,'Experimental MF/BP Leaf Term GOA',NULL,8362,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0090110|P:cargo loading into COPII-coated vesicle|IDA; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP',NULL,NULL,NULL,NULL,NULL),(137338,'Experimental MF/BP Leaf Term GOA',NULL,8363,NULL,'GO:0030506|F:ankyrin binding|IDA; GO:0005516|F:calmodulin binding|IPI; GO:0017134|F:fibroblast growth factor binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:0050998|F:nitric-oxide synthase binding|IPI; GO:0097110|F:scaffold protein binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0086060|F:voltage-gated sodium channel activity involved in AV node cell action potential|IMP; GO:0086061|F:voltage-gated sodium channel activity involved in bundle of His cell action potential|IMP; GO:0086062|F:voltage-gated sodium channel activity involved in Purkinje myocyte action potential|IMP; GO:0086063|F:voltage-gated sodium channel activity involved in SA node cell action potential|IMP; GO:0086014|P:atrial cardiac muscle cell action potential|IMP; GO:0086016|P:AV node cell action potential|IMP; GO:0086043|P:bundle of His cell action potential|IMP; GO:0060048|P:cardiac muscle contraction|IMP; GO:0071277|P:cellular response to calcium ion|IDA; GO:0098912|P:membrane depolarization during atrial cardiac muscle cell action potential|IMP; GO:0086045|P:membrane depolarization during AV node cell action potential|IMP; GO:0086048|P:membrane depolarization during bundle of His cell action potential|IMP; GO:0086047|P:membrane depolarization during Purkinje myocyte cell action potential|IMP; GO:0086046|P:membrane depolarization during SA node cell action potential|IMP; GO:0060371|P:regulation of atrial cardiac muscle cell membrane depolarization|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0060373|P:regulation of ventricular cardiac muscle cell membrane depolarization|IMP; GO:0086015|P:SA node cell action potential|IMP; GO:0086005|P:ventricular cardiac muscle cell action potential|IMP',NULL,NULL,NULL,NULL,NULL),(137339,'Experimental MF/BP Leaf Term GOA',NULL,8364,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0086016|P:AV node cell action potential|IMP; GO:0086043|P:bundle of His cell action potential|IMP; GO:0060371|P:regulation of atrial cardiac muscle cell membrane depolarization|IMP',NULL,NULL,NULL,NULL,NULL),(137340,'Experimental MF/BP Leaf Term GOA',NULL,8367,NULL,'GO:0090630|P:activation of GTPase activity|IMP; GO:0001843|P:neural tube closure|IMP; GO:0001921|P:positive regulation of receptor recycling|IMP',NULL,NULL,NULL,NULL,NULL),(137341,'Experimental MF/BP Leaf Term GOA',NULL,8372,NULL,'GO:2000370|P:positive regulation of clathrin-dependent endocytosis|IDA; GO:2000286|P:receptor internalization involved in canonical Wnt signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137342,'Experimental MF/BP Leaf Term GOA',NULL,8379,NULL,'GO:1990869|P:cellular response to chemokine|IMP; GO:0070634|P:transepithelial ammonium transport|IDA; GO:0030321|P:transepithelial chloride transport|IDA',NULL,NULL,NULL,NULL,NULL),(137343,'Experimental MF/BP Leaf Term GOA',NULL,8382,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0070488|P:neutrophil aggregation|IDA; GO:0030593|P:neutrophil chemotaxis|IDA; GO:0035606|P:peptidyl-cysteine S-trans-nitrosylation|IDA',NULL,NULL,NULL,NULL,NULL),(137344,'Experimental MF/BP Leaf Term GOA',NULL,8384,NULL,'GO:0015739|P:sialic acid transport|IDA',NULL,NULL,NULL,NULL,NULL),(137345,'Experimental MF/BP Leaf Term GOA',NULL,8388,NULL,'GO:0032049|P:cardiolipin biosynthetic process|IMP; GO:0006654|P:phosphatidic acid biosynthetic process|IMP; GO:0006659|P:phosphatidylserine biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(137346,'Experimental MF/BP Leaf Term GOA',NULL,8394,NULL,'GO:0009917|F:sterol 5-alpha reductase activity|IDA; GO:0030283|F:testosterone dehydrogenase [NAD(P)] activity|IDA; GO:0008584|P:male gonad development|IMP; GO:0061370|P:testosterone biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137347,'Experimental MF/BP Leaf Term GOA',NULL,8397,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0006882|P:cellular zinc ion homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(137348,'Experimental MF/BP Leaf Term GOA',NULL,8398,NULL,'GO:0008510|F:sodium:bicarbonate symporter activity|IMP',NULL,NULL,NULL,NULL,NULL),(137349,'Experimental MF/BP Leaf Term GOA',NULL,8406,NULL,'GO:0015180|F:L-alanine transmembrane transporter activity|IDA; GO:0015184|F:L-cystine transmembrane transporter activity|IDA; GO:0034590|F:L-hydroxyproline transmembrane transporter activity|IDA; GO:0015193|F:L-proline transmembrane transporter activity|IDA; GO:0015194|F:L-serine transmembrane transporter activity|IDA; GO:0034589|P:hydroxyproline transport|IDA',NULL,NULL,NULL,NULL,NULL),(137350,'Experimental MF/BP Leaf Term GOA',NULL,8409,NULL,'GO:0006121|P:mitochondrial electron transport, succinate to ubiquinone|IMP',NULL,NULL,NULL,NULL,NULL),(137351,'Experimental MF/BP Leaf Term GOA',NULL,8410,NULL,'GO:0005109|F:frizzled binding|IPI; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0045545|F:syndecan binding|IPI; GO:1903543|P:positive regulation of exosomal secretion|IMP; GO:1903553|P:positive regulation of extracellular exosome assembly|IMP; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IMP; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(137352,'Experimental MF/BP Leaf Term GOA',NULL,8412,NULL,'GO:0005484|F:SNAP receptor activity|IDA; GO:0016320|P:endoplasmic reticulum membrane fusion|IMP',NULL,NULL,NULL,NULL,NULL),(137353,'Experimental MF/BP Leaf Term GOA',NULL,8413,NULL,'GO:0090110|P:cargo loading into COPII-coated vesicle|IDA',NULL,NULL,NULL,NULL,NULL),(137354,'Experimental MF/BP Leaf Term GOA',NULL,8415,NULL,'GO:0070139|F:SUMO-specific endopeptidase activity|EXP; GO:0016926|P:protein desumoylation|IMP',NULL,NULL,NULL,NULL,NULL),(137355,'Experimental MF/BP Leaf Term GOA',NULL,8418,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0015701|P:bicarbonate transport|IDA',NULL,NULL,NULL,NULL,NULL),(137356,'Experimental MF/BP Leaf Term GOA',NULL,8423,NULL,'GO:0004145|F:diamine N-acetyltransferase activity|IDA; GO:0032920|P:putrescine acetylation|IDA; GO:0032918|P:spermidine acetylation|IDA; GO:0032919|P:spermine acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(137357,'Experimental MF/BP Leaf Term GOA',NULL,8424,NULL,'GO:0001784|F:phosphotyrosine residue binding|IDA',NULL,NULL,NULL,NULL,NULL),(137358,'Experimental MF/BP Leaf Term GOA',NULL,8426,NULL,'GO:0000248|F:C-5 sterol desaturase activity|EXP',NULL,NULL,NULL,NULL,NULL),(137359,'Experimental MF/BP Leaf Term GOA',NULL,8431,NULL,'GO:0006620|P:posttranslational protein targeting to endoplasmic reticulum membrane|IMP; GO:0006614|P:SRP-dependent cotranslational protein targeting to membrane|IMP',NULL,NULL,NULL,NULL,NULL),(137360,'Experimental MF/BP Leaf Term GOA',NULL,8435,NULL,'GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IDA; GO:0106089|P:negative regulation of cell adhesion involved in sprouting angiogenesis|IGI; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:1900747|P:negative regulation of vascular endothelial growth factor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137361,'Experimental MF/BP Leaf Term GOA',NULL,8436,NULL,'GO:0007229|P:integrin-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137362,'Experimental MF/BP Leaf Term GOA',NULL,8439,NULL,'GO:0019531|F:oxalate transmembrane transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(137363,'Experimental MF/BP Leaf Term GOA',NULL,8440,NULL,'GO:0019531|F:oxalate transmembrane transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(137364,'Experimental MF/BP Leaf Term GOA',NULL,8445,NULL,'GO:0009631|P:cold acclimation|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(137365,'Experimental MF/BP Leaf Term GOA',NULL,8449,NULL,'GO:0005335|F:serotonin:sodium symporter activity|IDA; GO:0090067|P:regulation of thalamus size|IMP; GO:0051610|P:serotonin uptake|IDA',NULL,NULL,NULL,NULL,NULL),(137366,'Experimental MF/BP Leaf Term GOA',NULL,8450,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0090110|P:cargo loading into COPII-coated vesicle|IDA; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP',NULL,NULL,NULL,NULL,NULL),(137367,'Experimental MF/BP Leaf Term GOA',NULL,8451,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0090110|P:cargo loading into COPII-coated vesicle|IDA; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP',NULL,NULL,NULL,NULL,NULL),(137368,'Experimental MF/BP Leaf Term GOA',NULL,8458,NULL,'GO:0080182|P:histone H3-K4 trimethylation|IMP',NULL,NULL,NULL,NULL,NULL),(137369,'Experimental MF/BP Leaf Term GOA',NULL,8463,NULL,'GO:0070053|F:thrombospondin receptor activity|IMP; GO:1903543|P:positive regulation of exosomal secretion|IMP; GO:1903553|P:positive regulation of extracellular exosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137370,'Experimental MF/BP Leaf Term GOA',NULL,8465,NULL,'GO:0034553|P:mitochondrial respiratory chain complex II assembly|IGI; GO:0003407|P:neural retina development|IGI',NULL,NULL,NULL,NULL,NULL),(137371,'Experimental MF/BP Leaf Term GOA',NULL,8466,NULL,'GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137372,'Experimental MF/BP Leaf Term GOA',NULL,8467,NULL,'GO:0003180|P:aortic valve morphogenesis|IMP; GO:0035922|P:foramen ovale closure|IMP; GO:0003148|P:outflow tract septum morphogenesis|IMP; GO:0060577|P:pulmonary vein morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(137373,'Experimental MF/BP Leaf Term GOA',NULL,8468,NULL,'GO:0047381|F:dodecanoyl-[acyl-carrier-protein] hydrolase activity|IDA; GO:0016295|F:myristoyl-[acyl-carrier-protein] hydrolase activity|IDA; GO:0016296|F:palmitoyl-[acyl-carrier-protein] hydrolase activity|IDA; GO:0051792|P:medium-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137374,'Experimental MF/BP Leaf Term GOA',NULL,8469,NULL,'GO:0007099|P:centriole replication|IMP; GO:0051298|P:centrosome duplication|IMP',NULL,NULL,NULL,NULL,NULL),(137375,'Experimental MF/BP Leaf Term GOA',NULL,8478,NULL,'GO:0015375|F:glycine:sodium symporter activity|IDA; GO:1903804|P:glycine import across plasma membrane|IDA; GO:0060012|P:synaptic transmission, glycinergic|IMP',NULL,NULL,NULL,NULL,NULL),(137376,'Experimental MF/BP Leaf Term GOA',NULL,8484,NULL,'GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137377,'Experimental MF/BP Leaf Term GOA',NULL,8488,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:1903543|P:positive regulation of exosomal secretion|IMP; GO:1903553|P:positive regulation of extracellular exosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137378,'Experimental MF/BP Leaf Term GOA',NULL,8489,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:1990869|P:cellular response to chemokine|IMP; GO:0033622|P:integrin activation|IDA; GO:2000669|P:negative regulation of dendritic cell apoptotic process|IDA; GO:1903237|P:negative regulation of leukocyte tethering or rolling|IDA; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(137379,'Experimental MF/BP Leaf Term GOA',NULL,8491,NULL,'GO:0006620|P:posttranslational protein targeting to endoplasmic reticulum membrane|IMP',NULL,NULL,NULL,NULL,NULL),(137380,'Experimental MF/BP Leaf Term GOA',NULL,8494,NULL,'GO:0046964|F:3\'-phosphoadenosine 5\'-phosphosulfate transmembrane transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(137381,'Experimental MF/BP Leaf Term GOA',NULL,8496,NULL,'GO:0071477|P:cellular hypotonic salinity response|IDA; GO:1990573|P:potassium ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(137382,'Experimental MF/BP Leaf Term GOA',NULL,8499,NULL,'GO:0005452|F:inorganic anion exchanger activity|IDA',NULL,NULL,NULL,NULL,NULL),(137383,'Experimental MF/BP Leaf Term GOA',NULL,8511,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0090110|P:cargo loading into COPII-coated vesicle|IDA; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP',NULL,NULL,NULL,NULL,NULL),(137384,'Experimental MF/BP Leaf Term GOA',NULL,8514,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137385,'Experimental MF/BP Leaf Term GOA',NULL,8516,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137386,'Experimental MF/BP Leaf Term GOA',NULL,8523,NULL,'GO:0030215|F:semaphorin receptor binding|IPI; GO:0010693|P:negative regulation of alkaline phosphatase activity|IMP; GO:0043931|P:ossification involved in bone maturation|IMP; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137387,'Experimental MF/BP Leaf Term GOA',NULL,8531,NULL,'GO:0070300|F:phosphatidic acid binding|IDA; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0010314|F:phosphatidylinositol-5-phosphate binding|IDA; GO:1904878|P:negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel|IMP',NULL,NULL,NULL,NULL,NULL),(137388,'Experimental MF/BP Leaf Term GOA',NULL,8535,NULL,'GO:0046875|F:ephrin receptor binding|IPI; GO:0005158|F:insulin receptor binding|IPI; GO:0005159|F:insulin-like growth factor receptor binding|IPI; GO:0005168|F:neurotrophin TRKA receptor binding|IPI; GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0071864|P:positive regulation of cell proliferation in bone marrow|IGI',NULL,NULL,NULL,NULL,NULL),(137389,'Experimental MF/BP Leaf Term GOA',NULL,8537,NULL,'GO:0004821|F:histidine-tRNA ligase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137390,'Experimental MF/BP Leaf Term GOA',NULL,8541,NULL,'GO:0030165|F:PDZ domain binding|IPI; GO:0097202|P:activation of cysteine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137391,'Experimental MF/BP Leaf Term GOA',NULL,8546,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137392,'Experimental MF/BP Leaf Term GOA',NULL,8548,NULL,'GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071650|P:negative regulation of chemokine (C-C motif) ligand 5 production|IMP; GO:0034144|P:negative regulation of toll-like receptor 4 signaling pathway|IDA; GO:0071651|P:positive regulation of chemokine (C-C motif) ligand 5 production|IMP; GO:2000494|P:positive regulation of interleukin-18-mediated signaling pathway|IMP; GO:0034145|P:positive regulation of toll-like receptor 4 signaling pathway|IDA; GO:0035669|P:TRAM-dependent toll-like receptor 4 signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137393,'Experimental MF/BP Leaf Term GOA',NULL,8549,NULL,'GO:1901097|P:negative regulation of autophagosome maturation|IMP',NULL,NULL,NULL,NULL,NULL),(137394,'Experimental MF/BP Leaf Term GOA',NULL,8551,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137395,'Experimental MF/BP Leaf Term GOA',NULL,8552,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137396,'Experimental MF/BP Leaf Term GOA',NULL,8554,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137397,'Experimental MF/BP Leaf Term GOA',NULL,8555,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137398,'Experimental MF/BP Leaf Term GOA',NULL,8556,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137399,'Experimental MF/BP Leaf Term GOA',NULL,8558,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137400,'Experimental MF/BP Leaf Term GOA',NULL,8563,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137401,'Experimental MF/BP Leaf Term GOA',NULL,8564,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137402,'Experimental MF/BP Leaf Term GOA',NULL,8565,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137403,'Experimental MF/BP Leaf Term GOA',NULL,8567,NULL,'GO:1990081|F:trimethylamine receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137404,'Experimental MF/BP Leaf Term GOA',NULL,8576,NULL,'GO:0046966|F:thyroid hormone receptor binding|IPI; GO:0042809|F:vitamin D receptor binding|IPI; GO:0043923|P:positive regulation by host of viral transcription|IDA',NULL,NULL,NULL,NULL,NULL),(137405,'Experimental MF/BP Leaf Term GOA',NULL,8577,NULL,'GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(137406,'Experimental MF/BP Leaf Term GOA',NULL,8578,NULL,'GO:0070577|F:lysine-acetylated histone binding|IDA; GO:0002039|F:p53 binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0000979|F:RNA polymerase II core promoter sequence-specific DNA binding|IGI; GO:0017025|F:TBP-class protein binding|IPI; GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0030901|P:midbrain development|IGI; GO:1905524|P:negative regulation of protein autoubiquitination|IDA; GO:1903026|P:negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding|IDA; GO:0010768|P:negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|IMP; GO:2000825|P:positive regulation of androgen receptor activity|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(137407,'Experimental MF/BP Leaf Term GOA',NULL,8580,NULL,'GO:0017162|F:aryl hydrocarbon receptor binding|IPI; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(137408,'Experimental MF/BP Leaf Term GOA',NULL,8581,NULL,'GO:0051059|F:NF-kappaB binding|IPI',NULL,NULL,NULL,NULL,NULL),(137409,'Experimental MF/BP Leaf Term GOA',NULL,8584,NULL,'GO:0071955|P:recycling endosome to Golgi transport|IMP',NULL,NULL,NULL,NULL,NULL),(137410,'Experimental MF/BP Leaf Term GOA',NULL,8585,NULL,'GO:0032869|P:cellular response to insulin stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(137411,'Experimental MF/BP Leaf Term GOA',NULL,8586,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(137412,'Experimental MF/BP Leaf Term GOA',NULL,8590,NULL,'GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(137413,'Experimental MF/BP Leaf Term GOA',NULL,8591,NULL,'GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA; GO:0003007|P:heart morphogenesis|IDA; GO:0003257|P:positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(137414,'Experimental MF/BP Leaf Term GOA',NULL,8592,NULL,'GO:0004825|F:methionine-tRNA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137415,'Experimental MF/BP Leaf Term GOA',NULL,8594,NULL,'GO:0034450|F:ubiquitin-ubiquitin ligase activity|IDA; GO:1901315|P:negative regulation of histone H2A K63-linked ubiquitination|IMP; GO:0033160|P:positive regulation of protein import into nucleus, translocation|IMP; GO:0050847|P:progesterone receptor signaling pathway|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(137416,'Experimental MF/BP Leaf Term GOA',NULL,8597,NULL,'GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(137417,'Experimental MF/BP Leaf Term GOA',NULL,8600,NULL,'GO:0071889|F:14-3-3 protein binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137418,'Experimental MF/BP Leaf Term GOA',NULL,8601,NULL,'GO:0071889|F:14-3-3 protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(137419,'Experimental MF/BP Leaf Term GOA',NULL,8602,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137420,'Experimental MF/BP Leaf Term GOA',NULL,8609,NULL,'GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(137421,'Experimental MF/BP Leaf Term GOA',NULL,8610,NULL,'GO:0050750|F:low-density lipoprotein particle receptor binding|IDA; GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(137422,'Experimental MF/BP Leaf Term GOA',NULL,8612,NULL,'GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IMP; GO:0001786|F:phosphatidylserine binding|IMP',NULL,NULL,NULL,NULL,NULL),(137423,'Experimental MF/BP Leaf Term GOA',NULL,8619,NULL,'GO:0052697|P:xenobiotic glucuronidation|IDA',NULL,NULL,NULL,NULL,NULL),(137424,'Experimental MF/BP Leaf Term GOA',NULL,8620,NULL,'GO:0043014|F:alpha-tubulin binding|IPI; GO:1903136|F:cuprous ion binding|IMP; GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IDA; GO:0070840|F:dynein complex binding|IPI; GO:0008198|F:ferrous iron binding|IDA; GO:0030544|F:Hsp70 protein binding|IPI; GO:0000287|F:magnesium ion binding|IDA; GO:0048156|F:tau protein binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0071280|P:cellular response to copper ion|IDA; GO:1904715|P:negative regulation of chaperone-mediated autophagy|IMP; GO:0070495|P:negative regulation of thrombin-activated receptor signaling pathway|IDA; GO:1903284|P:positive regulation of glutathione peroxidase activity|IDA; GO:1903285|P:positive regulation of hydrogen peroxide catabolic process|IDA; GO:0001921|P:positive regulation of receptor recycling|IDA; GO:0031648|P:protein destabilization|IDA',NULL,NULL,NULL,NULL,NULL),(137425,'Experimental MF/BP Leaf Term GOA',NULL,8622,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0051087|F:chaperone binding|IPI; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0051082|F:unfolded protein binding|IPI; GO:0070936|P:protein K48-linked ubiquitination|IDA; GO:0050821|P:protein stabilization|IMP; GO:0030970|P:retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(137426,'Experimental MF/BP Leaf Term GOA',NULL,8624,NULL,'GO:0071567|F:UFM1 hydrolase activity|IMP',NULL,NULL,NULL,NULL,NULL),(137427,'Experimental MF/BP Leaf Term GOA',NULL,8626,NULL,'GO:0070728|F:leucine binding|IDA; GO:0071233|P:cellular response to leucine|IDA',NULL,NULL,NULL,NULL,NULL),(137428,'Experimental MF/BP Leaf Term GOA',NULL,8627,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137429,'Experimental MF/BP Leaf Term GOA',NULL,8633,NULL,'GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(137430,'Experimental MF/BP Leaf Term GOA',NULL,8637,NULL,'GO:0004822|F:isoleucine-tRNA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137431,'Experimental MF/BP Leaf Term GOA',NULL,8639,NULL,'GO:0090286|P:cytoskeletal anchoring at nuclear membrane|IDA',NULL,NULL,NULL,NULL,NULL),(137432,'Experimental MF/BP Leaf Term GOA',NULL,8641,NULL,'GO:0044325|F:ion channel binding|IDA; GO:0002039|F:p53 binding|IPI; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0071347|P:cellular response to interleukin-1|IMP',NULL,NULL,NULL,NULL,NULL),(137433,'Experimental MF/BP Leaf Term GOA',NULL,8643,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0070537|P:histone H2A K63-linked deubiquitination|IMP; GO:0051289|P:protein homotetramerization|IPI',NULL,NULL,NULL,NULL,NULL),(137434,'Experimental MF/BP Leaf Term GOA',NULL,8645,NULL,'GO:0015485|F:cholesterol binding|IDA',NULL,NULL,NULL,NULL,NULL),(137435,'Experimental MF/BP Leaf Term GOA',NULL,8648,NULL,'GO:0007339|P:binding of sperm to zona pellucida|IMP; GO:0061484|P:hematopoietic stem cell homeostasis|IGI',NULL,NULL,NULL,NULL,NULL),(137436,'Experimental MF/BP Leaf Term GOA',NULL,8649,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(137437,'Experimental MF/BP Leaf Term GOA',NULL,8652,NULL,'GO:1904780|P:negative regulation of protein localization to centrosome|IGI; GO:0046604|P:positive regulation of mitotic centrosome separation|IGI',NULL,NULL,NULL,NULL,NULL),(137438,'Experimental MF/BP Leaf Term GOA',NULL,8654,NULL,'GO:0004826|F:phenylalanine-tRNA ligase activity|IDA; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(137439,'Experimental MF/BP Leaf Term GOA',NULL,8659,NULL,'GO:0019785|F:ISG15-specific protease activity|EXP',NULL,NULL,NULL,NULL,NULL),(137440,'Experimental MF/BP Leaf Term GOA',NULL,8660,NULL,'GO:0031005|F:filamin binding|IDA',NULL,NULL,NULL,NULL,NULL),(137441,'Experimental MF/BP Leaf Term GOA',NULL,8661,NULL,'GO:0071108|P:protein K48-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(137442,'Experimental MF/BP Leaf Term GOA',NULL,8664,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(137443,'Experimental MF/BP Leaf Term GOA',NULL,8667,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0006368|P:transcription elongation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(137444,'Experimental MF/BP Leaf Term GOA',NULL,8668,NULL,'GO:0032968|P:positive regulation of transcription elongation from RNA polymerase II promoter|IMP',NULL,NULL,NULL,NULL,NULL),(137445,'Experimental MF/BP Leaf Term GOA',NULL,8670,NULL,'GO:0030506|F:ankyrin binding|IDA',NULL,NULL,NULL,NULL,NULL),(137446,'Experimental MF/BP Leaf Term GOA',NULL,8671,NULL,'GO:0034452|F:dynactin binding|IDA; GO:0045505|F:dynein intermediate chain binding|IDA; GO:0030507|F:spectrin binding|IDA',NULL,NULL,NULL,NULL,NULL),(137447,'Experimental MF/BP Leaf Term GOA',NULL,8672,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137448,'Experimental MF/BP Leaf Term GOA',NULL,8674,NULL,'GO:0004819|F:glutamine-tRNA ligase activity|IDA; GO:0005096|F:GTPase activator activity|IMP; GO:0071233|P:cellular response to leucine|IMP; GO:1990253|P:cellular response to leucine starvation|IMP; GO:1904263|P:positive regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137449,'Experimental MF/BP Leaf Term GOA',NULL,8677,NULL,'GO:0004818|F:glutamate-tRNA ligase activity|IDA; GO:0050561|F:glutamate-tRNA(Gln) ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137450,'Experimental MF/BP Leaf Term GOA',NULL,8678,NULL,'GO:0004819|F:glutamine-tRNA ligase activity|IDA; GO:0007420|P:brain development|IMP',NULL,NULL,NULL,NULL,NULL),(137451,'Experimental MF/BP Leaf Term GOA',NULL,8682,NULL,'GO:0060478|P:acrosomal vesicle exocytosis|IMP',NULL,NULL,NULL,NULL,NULL),(137452,'Experimental MF/BP Leaf Term GOA',NULL,8686,NULL,'GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(137453,'Experimental MF/BP Leaf Term GOA',NULL,8687,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0005080|F:protein kinase C binding|IDA',NULL,NULL,NULL,NULL,NULL),(137454,'Experimental MF/BP Leaf Term GOA',NULL,8688,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0001972|F:retinoic acid binding|IDA; GO:0052696|P:flavonoid glucuronidation|IDA; GO:2001030|P:negative regulation of cellular glucuronidation|IDA; GO:0052697|P:xenobiotic glucuronidation|IDA',NULL,NULL,NULL,NULL,NULL),(137455,'Experimental MF/BP Leaf Term GOA',NULL,8689,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137456,'Experimental MF/BP Leaf Term GOA',NULL,8691,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0052696|P:flavonoid glucuronidation|IDA; GO:2001030|P:negative regulation of cellular glucuronidation|IDA; GO:1904224|P:negative regulation of glucuronosyltransferase activity|IDA; GO:0052697|P:xenobiotic glucuronidation|IDA',NULL,NULL,NULL,NULL,NULL),(137457,'Experimental MF/BP Leaf Term GOA',NULL,8692,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0001972|F:retinoic acid binding|IDA; GO:0052696|P:flavonoid glucuronidation|IDA; GO:2001030|P:negative regulation of cellular glucuronidation|IDA; GO:1904224|P:negative regulation of glucuronosyltransferase activity|IDA; GO:0052697|P:xenobiotic glucuronidation|IDA',NULL,NULL,NULL,NULL,NULL),(137458,'Experimental MF/BP Leaf Term GOA',NULL,8697,NULL,'GO:0021554|P:optic nerve development|IMP',NULL,NULL,NULL,NULL,NULL),(137459,'Experimental MF/BP Leaf Term GOA',NULL,8699,NULL,'GO:0033088|P:negative regulation of immature T cell proliferation in thymus|IMP',NULL,NULL,NULL,NULL,NULL),(137460,'Experimental MF/BP Leaf Term GOA',NULL,8705,NULL,'GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IMP; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137461,'Experimental MF/BP Leaf Term GOA',NULL,8706,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA',NULL,NULL,NULL,NULL,NULL),(137462,'Experimental MF/BP Leaf Term GOA',NULL,8707,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137463,'Experimental MF/BP Leaf Term GOA',NULL,8708,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137464,'Experimental MF/BP Leaf Term GOA',NULL,8716,NULL,'GO:0000045|P:autophagosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137465,'Experimental MF/BP Leaf Term GOA',NULL,8717,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137466,'Experimental MF/BP Leaf Term GOA',NULL,8722,NULL,'GO:1990715|F:mRNA CDS binding|IDA',NULL,NULL,NULL,NULL,NULL),(137467,'Experimental MF/BP Leaf Term GOA',NULL,8724,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(137468,'Experimental MF/BP Leaf Term GOA',NULL,8726,NULL,'GO:0007091|P:metaphase/anaphase transition of mitotic cell cycle|IMP',NULL,NULL,NULL,NULL,NULL),(137469,'Experimental MF/BP Leaf Term GOA',NULL,8729,NULL,'GO:2001268|P:negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway|IMP; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(137470,'Experimental MF/BP Leaf Term GOA',NULL,8732,NULL,'GO:0001164|F:RNA polymerase I CORE element sequence-specific DNA binding|IDA; GO:0001188|P:RNA polymerase I preinitiation complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137471,'Experimental MF/BP Leaf Term GOA',NULL,8734,NULL,'GO:0070577|F:lysine-acetylated histone binding|IDA; GO:0017025|F:TBP-class protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(137472,'Experimental MF/BP Leaf Term GOA',NULL,8735,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(137473,'Experimental MF/BP Leaf Term GOA',NULL,8738,NULL,'GO:0001094|F:TFIID-class transcription factor complex binding|IDA; GO:0000086|P:G2/M transition of mitotic cell cycle|IMP; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(137474,'Experimental MF/BP Leaf Term GOA',NULL,8746,NULL,'GO:0004814|F:arginine-tRNA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137475,'Experimental MF/BP Leaf Term GOA',NULL,8748,NULL,'GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(137476,'Experimental MF/BP Leaf Term GOA',NULL,8749,NULL,'GO:0035035|F:histone acetyltransferase binding|IPI; GO:0106140|F:P-TEFb complex binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0001097|F:TFIIH-class transcription factor complex binding|IDA; GO:0046966|F:thyroid hormone receptor binding|IPI; GO:0042809|F:vitamin D receptor binding|IPI; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(137477,'Experimental MF/BP Leaf Term GOA',NULL,8751,NULL,'GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(137478,'Experimental MF/BP Leaf Term GOA',NULL,8753,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0048487|F:beta-tubulin binding|IDA; GO:0097194|P:execution phase of apoptosis|IDA; GO:0007095|P:mitotic G2 DNA damage checkpoint|IMP',NULL,NULL,NULL,NULL,NULL),(137479,'Experimental MF/BP Leaf Term GOA',NULL,8758,NULL,'GO:0048487|F:beta-tubulin binding|IDA; GO:0005096|F:GTPase activator activity|IDA; GO:0007023|P:post-chaperonin tubulin folding pathway|IDA; GO:0007021|P:tubulin complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137480,'Experimental MF/BP Leaf Term GOA',NULL,8760,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0070034|F:telomerase RNA binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0030576|P:Cajal body organization|IMP; GO:1905168|P:positive regulation of double-strand break repair via homologous recombination|IDA; GO:2001034|P:positive regulation of double-strand break repair via nonhomologous end joining|IDA; GO:1904867|P:protein localization to Cajal body|IDA; GO:0090666|P:scaRNA localization to Cajal body|IDA; GO:0090671|P:telomerase RNA localization to Cajal body|IMP; GO:0032203|P:telomere formation via telomerase|IMP; GO:0007004|P:telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(137481,'Experimental MF/BP Leaf Term GOA',NULL,8765,NULL,'GO:0004827|F:proline-tRNA ligase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0071346|P:cellular response to interferon-gamma|IDA',NULL,NULL,NULL,NULL,NULL),(137482,'Experimental MF/BP Leaf Term GOA',NULL,8766,NULL,'GO:0004826|F:phenylalanine-tRNA ligase activity|IDA; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(137483,'Experimental MF/BP Leaf Term GOA',NULL,8767,NULL,'GO:0005521|F:lamin binding|IPI; GO:0090286|P:cytoskeletal anchoring at nuclear membrane|IDA; GO:0090292|P:nuclear matrix anchoring at nuclear membrane|IDA',NULL,NULL,NULL,NULL,NULL),(137484,'Experimental MF/BP Leaf Term GOA',NULL,8770,NULL,'GO:0047184|F:1-acylglycerophosphocholine O-acyltransferase activity|IDA; GO:0060048|P:cardiac muscle contraction|IMP; GO:0032049|P:cardiolipin biosynthetic process|IMP; GO:0042407|P:cristae formation|IMP; GO:0042775|P:mitochondrial ATP synthesis coupled electron transport|IDA; GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137485,'Experimental MF/BP Leaf Term GOA',NULL,8774,NULL,'GO:0051661|P:maintenance of centrosome location|IMP; GO:0051684|P:maintenance of Golgi location|IMP',NULL,NULL,NULL,NULL,NULL),(137486,'Experimental MF/BP Leaf Term GOA',NULL,8775,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137487,'Experimental MF/BP Leaf Term GOA',NULL,8782,NULL,'GO:0007023|P:post-chaperonin tubulin folding pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137488,'Experimental MF/BP Leaf Term GOA',NULL,8785,NULL,'GO:0031419|F:cobalamin binding|IDA; GO:0015889|P:cobalamin transport|IDA',NULL,NULL,NULL,NULL,NULL),(137489,'Experimental MF/BP Leaf Term GOA',NULL,8786,NULL,'GO:0043539|F:protein serine/threonine kinase activator activity|IMP; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0010918|P:positive regulation of mitochondrial membrane potential|IDA; GO:0070207|P:protein homotrimerization|IDA',NULL,NULL,NULL,NULL,NULL),(137490,'Experimental MF/BP Leaf Term GOA',NULL,8788,NULL,'GO:0098505|F:G-rich strand telomeric DNA binding|IDA; GO:0031848|P:protection from non-homologous end joining at telomere|IMP',NULL,NULL,NULL,NULL,NULL),(137491,'Experimental MF/BP Leaf Term GOA',NULL,8790,NULL,'GO:0051497|P:negative regulation of stress fiber assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137492,'Experimental MF/BP Leaf Term GOA',NULL,8792,NULL,'GO:0072001|P:renal system development|IMP',NULL,NULL,NULL,NULL,NULL),(137493,'Experimental MF/BP Leaf Term GOA',NULL,8793,NULL,'GO:0048487|F:beta-tubulin binding|IPI; GO:0031681|F:G-protein beta-subunit binding|IPI; GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(137494,'Experimental MF/BP Leaf Term GOA',NULL,8794,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0097352|P:autophagosome maturation|IMP',NULL,NULL,NULL,NULL,NULL),(137495,'Experimental MF/BP Leaf Term GOA',NULL,8795,NULL,'GO:0071987|F:WD40-repeat domain binding|IPI; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(137496,'Experimental MF/BP Leaf Term GOA',NULL,8797,NULL,'GO:0007229|P:integrin-mediated signaling pathway|IDA; GO:0038083|P:peptidyl-tyrosine autophosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(137497,'Experimental MF/BP Leaf Term GOA',NULL,8798,NULL,'GO:0071532|F:ankyrin repeat binding|IPI; GO:0003691|F:double-stranded telomeric DNA binding|IDA; GO:0098505|F:G-rich strand telomeric DNA binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IMP; GO:0000086|P:G2/M transition of mitotic cell cycle|IEP; GO:0007094|P:mitotic spindle assembly checkpoint|IMP; GO:1904911|P:negative regulation of establishment of RNA localization to telomere|IMP; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IGI; GO:1905839|P:negative regulation of telomeric D-loop disassembly|IDA; GO:1904792|P:positive regulation of shelterin complex assembly|IMP; GO:0007004|P:telomere maintenance via telomerase|IDA; GO:0061820|P:telomeric D-loop disassembly|IGI',NULL,NULL,NULL,NULL,NULL),(137498,'Experimental MF/BP Leaf Term GOA',NULL,8799,NULL,'GO:0003691|F:double-stranded telomeric DNA binding|IDA; GO:0098505|F:G-rich strand telomeric DNA binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:1903770|P:negative regulation of beta-galactosidase activity|IDA; GO:2000773|P:negative regulation of cellular senescence|IMP; GO:1904430|P:negative regulation of t-circle formation|IMP; GO:0032208|P:negative regulation of telomere maintenance via recombination|IMP; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IDA; GO:1905839|P:negative regulation of telomeric D-loop disassembly|IDA; GO:0051000|P:positive regulation of nitric-oxide synthase activity|IMP; GO:0031848|P:protection from non-homologous end joining at telomere|IMP; GO:0016233|P:telomere capping|IMP; GO:0061820|P:telomeric D-loop disassembly|IGI; GO:0031627|P:telomeric loop formation|IDA',NULL,NULL,NULL,NULL,NULL),(137499,'Experimental MF/BP Leaf Term GOA',NULL,8801,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0017025|F:TBP-class protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(137500,'Experimental MF/BP Leaf Term GOA',NULL,8812,NULL,'GO:0050431|F:transforming growth factor beta binding|IDA; GO:0070123|F:transforming growth factor beta receptor activity, type III|IDA; GO:0005114|F:type II transforming growth factor beta receptor binding|IDA; GO:0060389|P:pathway-restricted SMAD protein phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(137501,'Experimental MF/BP Leaf Term GOA',NULL,8813,NULL,'GO:0000179|F:rRNA (adenine-N6,N6-)-dimethyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(137502,'Experimental MF/BP Leaf Term GOA',NULL,8815,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0042789|P:mRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(137503,'Experimental MF/BP Leaf Term GOA',NULL,8816,NULL,'GO:0034058|P:endosomal vesicle fusion|IMP',NULL,NULL,NULL,NULL,NULL),(137504,'Experimental MF/BP Leaf Term GOA',NULL,8818,NULL,'GO:0001205|F:distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0042826|F:histone deacetylase binding|IPI; GO:0051059|F:NF-kappaB binding|IPI; GO:0042301|F:phosphate ion binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1904385|P:cellular response to angiotensin|IMP; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0071347|P:cellular response to interleukin-1|IDA; GO:0071354|P:cellular response to interleukin-6|IMP; GO:0071223|P:cellular response to lipoteichoic acid|IMP; GO:0071316|P:cellular response to nicotine|IMP; GO:0071224|P:cellular response to peptidoglycan|IMP; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IMP; GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IMP; GO:1902894|P:negative regulation of pri-miRNA transcription by RNA polymerase II|IMP; GO:0070431|P:nucleotide-binding oligomerization domain containing 2 signaling pathway|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IMP; GO:0050862|P:positive regulation of T cell receptor signaling pathway|IMP; GO:0061614|P:pri-miRNA transcription by RNA polymerase II|IMP',NULL,NULL,NULL,NULL,NULL),(137505,'Experimental MF/BP Leaf Term GOA',NULL,8819,NULL,'GO:0071164|F:RNA trimethylguanosine synthase activity|IDA; GO:0036261|P:7-methylguanosine cap hypermethylation|IDA',NULL,NULL,NULL,NULL,NULL),(137506,'Experimental MF/BP Leaf Term GOA',NULL,8820,NULL,'GO:0070016|F:armadillo repeat domain binding|IPI; GO:0008013|F:beta-catenin binding|IDA; GO:0045295|F:gamma-catenin binding|IPI; GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI; GO:0044334|P:canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137507,'Experimental MF/BP Leaf Term GOA',NULL,8822,NULL,'GO:0005524|F:ATP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0008193|F:tRNA guanylyltransferase activity|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(137508,'Experimental MF/BP Leaf Term GOA',NULL,8823,NULL,'GO:0070337|F:3\'-flap-structured DNA binding|IDA; GO:1905773|F:8-hydroxy-2\'-deoxyguanosine DNA binding|IDA; GO:0000405|F:bubble DNA binding|IDA; GO:0061749|F:forked DNA-dependent helicase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0032405|F:MutLalpha complex binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0061821|F:telomeric D-loop binding|IDA; GO:0000403|F:Y-form DNA binding|IDA; GO:0071480|P:cellular response to gamma radiation|IDA; GO:0044806|P:G-quadruplex DNA unwinding|IDA; GO:0098530|P:positive regulation of strand invasion|IDA; GO:1902570|P:protein localization to nucleolus|IDA; GO:0061820|P:telomeric D-loop disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(137509,'Experimental MF/BP Leaf Term GOA',NULL,8824,NULL,'GO:0090307|P:mitotic spindle assembly|IMP; GO:1902857|P:positive regulation of non-motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137510,'Experimental MF/BP Leaf Term GOA',NULL,8826,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IDA',NULL,NULL,NULL,NULL,NULL),(137511,'Experimental MF/BP Leaf Term GOA',NULL,8828,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0004829|F:threonine-tRNA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137512,'Experimental MF/BP Leaf Term GOA',NULL,8833,NULL,'GO:0004298|F:threonine-type endopeptidase activity|IMP',NULL,NULL,NULL,NULL,NULL),(137513,'Experimental MF/BP Leaf Term GOA',NULL,8841,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0007283|P:spermatogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(137514,'Experimental MF/BP Leaf Term GOA',NULL,8844,NULL,'GO:0008157|F:protein phosphatase 1 binding|IDA',NULL,NULL,NULL,NULL,NULL),(137515,'Experimental MF/BP Leaf Term GOA',NULL,8849,NULL,'GO:0032211|P:negative regulation of telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(137516,'Experimental MF/BP Leaf Term GOA',NULL,8852,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0035329|P:hippo signaling|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IMP',NULL,NULL,NULL,NULL,NULL),(137517,'Experimental MF/BP Leaf Term GOA',NULL,8855,NULL,'GO:0003810|F:protein-glutamine gamma-glutamyltransferase activity|IDA; GO:0010838|P:positive regulation of keratinocyte proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(137518,'Experimental MF/BP Leaf Term GOA',NULL,8859,NULL,'GO:0071532|F:ankyrin repeat binding|IMP; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(137519,'Experimental MF/BP Leaf Term GOA',NULL,8860,NULL,'GO:0001556|P:oocyte maturation|IMP',NULL,NULL,NULL,NULL,NULL),(137520,'Experimental MF/BP Leaf Term GOA',NULL,8866,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0090110|P:cargo loading into COPII-coated vesicle|IMP; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0044829|P:positive regulation by host of viral genome replication|IMP; GO:0046726|P:positive regulation by virus of viral protein levels in host cell|IMP; GO:1902953|P:positive regulation of ER to Golgi vesicle-mediated transport|IMP; GO:0019068|P:virion assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137521,'Experimental MF/BP Leaf Term GOA',NULL,8868,NULL,'GO:0008013|F:beta-catenin binding|IPI',NULL,NULL,NULL,NULL,NULL),(137522,'Experimental MF/BP Leaf Term GOA',NULL,8870,NULL,'GO:0071456|P:cellular response to hypoxia|IMP',NULL,NULL,NULL,NULL,NULL),(137523,'Experimental MF/BP Leaf Term GOA',NULL,8871,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137524,'Experimental MF/BP Leaf Term GOA',NULL,8873,NULL,'GO:0005112|F:Notch binding|IPI; GO:0010739|P:positive regulation of protein kinase A signaling|IDA; GO:1900020|P:positive regulation of protein kinase C activity|IDA',NULL,NULL,NULL,NULL,NULL),(137525,'Experimental MF/BP Leaf Term GOA',NULL,8876,NULL,'GO:0051879|F:Hsp90 protein binding|IPI; GO:1904263|P:positive regulation of TORC1 signaling|IMP; GO:1904515|P:positive regulation of TORC2 signaling|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(137526,'Experimental MF/BP Leaf Term GOA',NULL,8881,NULL,'GO:0002541|P:activation of plasma proteins involved in acute inflammatory response|IDA; GO:0007596|P:blood coagulation|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137527,'Experimental MF/BP Leaf Term GOA',NULL,8883,NULL,'GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP',NULL,NULL,NULL,NULL,NULL),(137528,'Experimental MF/BP Leaf Term GOA',NULL,8885,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(137529,'Experimental MF/BP Leaf Term GOA',NULL,8886,NULL,'GO:0000390|P:spliceosomal complex disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(137530,'Experimental MF/BP Leaf Term GOA',NULL,8888,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IDA',NULL,NULL,NULL,NULL,NULL),(137531,'Experimental MF/BP Leaf Term GOA',NULL,8889,NULL,'GO:0070888|F:E-box binding|IDA; GO:0031435|F:mitogen-activated protein kinase kinase kinase binding|IPI; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0070644|F:vitamin D response element binding|IDA; GO:0030890|P:positive regulation of B cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(137532,'Experimental MF/BP Leaf Term GOA',NULL,8894,NULL,'GO:0035612|F:AP-2 adaptor complex binding|IDA; GO:1905394|F:retromer complex binding|IMP',NULL,NULL,NULL,NULL,NULL),(137533,'Experimental MF/BP Leaf Term GOA',NULL,8898,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137534,'Experimental MF/BP Leaf Term GOA',NULL,8906,NULL,'GO:0042954|F:lipoprotein transporter activity|IMP; GO:0090110|P:cargo loading into COPII-coated vesicle|IMP; GO:0002042|P:cell migration involved in sprouting angiogenesis|IMP; GO:0140052|P:cellular response to oxidised low-density lipoprotein particle stimulus|IMP; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0042953|P:lipoprotein transport|IMP; GO:0070973|P:protein localization to endoplasmic reticulum exit site|IMP',NULL,NULL,NULL,NULL,NULL),(137535,'Experimental MF/BP Leaf Term GOA',NULL,8907,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0008479|F:queuine tRNA-ribosyltransferase activity|IDA; GO:0101030|P:tRNA-guanine transglycosylation|IDA',NULL,NULL,NULL,NULL,NULL),(137536,'Experimental MF/BP Leaf Term GOA',NULL,8908,NULL,'GO:0004803|F:transposase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137537,'Experimental MF/BP Leaf Term GOA',NULL,8909,NULL,'GO:0016290|F:palmitoyl-CoA hydrolase activity|IDA; GO:0043491|P:protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137538,'Experimental MF/BP Leaf Term GOA',NULL,8910,NULL,'GO:0070728|F:leucine binding|IDA; GO:0071233|P:cellular response to leucine|IDA',NULL,NULL,NULL,NULL,NULL),(137539,'Experimental MF/BP Leaf Term GOA',NULL,8911,NULL,'GO:0004801|F:sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(137540,'Experimental MF/BP Leaf Term GOA',NULL,8912,NULL,'GO:0031434|F:mitogen-activated protein kinase kinase binding|IPI; GO:0038191|F:neuropilin binding|IPI; GO:0048041|P:focal adhesion assembly|IDA; GO:0007095|P:mitotic G2 DNA damage checkpoint|IMP',NULL,NULL,NULL,NULL,NULL),(137541,'Experimental MF/BP Leaf Term GOA',NULL,8913,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(137542,'Experimental MF/BP Leaf Term GOA',NULL,8914,NULL,'GO:0007095|P:mitotic G2 DNA damage checkpoint|IMP',NULL,NULL,NULL,NULL,NULL),(137543,'Experimental MF/BP Leaf Term GOA',NULL,8915,NULL,'GO:0043531|F:ADP binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0046979|F:TAP2 binding|IPI',NULL,NULL,NULL,NULL,NULL),(137544,'Experimental MF/BP Leaf Term GOA',NULL,8917,NULL,'GO:0007420|P:brain development|IMP; GO:0099041|P:vesicle tethering to Golgi|IDA',NULL,NULL,NULL,NULL,NULL),(137545,'Experimental MF/BP Leaf Term GOA',NULL,8918,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137546,'Experimental MF/BP Leaf Term GOA',NULL,8919,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0090630|P:activation of GTPase activity|IMP',NULL,NULL,NULL,NULL,NULL),(137547,'Experimental MF/BP Leaf Term GOA',NULL,8922,NULL,'GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(137548,'Experimental MF/BP Leaf Term GOA',NULL,8925,NULL,'GO:0005524|F:ATP binding|IDA; GO:0031404|F:chloride ion binding|IDA; GO:0043739|F:G/U mismatch-specific uracil-DNA glycosylase activity|IMP; GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0031402|F:sodium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137549,'Experimental MF/BP Leaf Term GOA',NULL,8932,NULL,'GO:0005524|F:ATP binding|IDA; GO:0070411|F:I-SMAD binding|IPI; GO:0050431|F:transforming growth factor beta binding|IDA; GO:0005025|F:transforming growth factor beta receptor activity, type I|IDA; GO:0005114|F:type II transforming growth factor beta receptor binding|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:0060389|P:pathway-restricted SMAD protein phosphorylation|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:0060391|P:positive regulation of SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(137550,'Experimental MF/BP Leaf Term GOA',NULL,8933,NULL,'GO:0050431|F:transforming growth factor beta binding|IDA; GO:0034713|F:type I transforming growth factor beta receptor binding|IDA; GO:0034714|F:type III transforming growth factor beta receptor binding|IDA; GO:0060389|P:pathway-restricted SMAD protein phosphorylation|IDA; GO:2000563|P:positive regulation of CD4-positive, alpha-beta T cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(137551,'Experimental MF/BP Leaf Term GOA',NULL,8934,NULL,'GO:0070888|F:E-box binding|IDA; GO:0042826|F:histone deacetylase binding|IPI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0030221|P:basophil differentiation|IEP; GO:0030219|P:megakaryocyte differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(137552,'Experimental MF/BP Leaf Term GOA',NULL,8936,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(137553,'Experimental MF/BP Leaf Term GOA',NULL,8937,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(137554,'Experimental MF/BP Leaf Term GOA',NULL,8940,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(137555,'Experimental MF/BP Leaf Term GOA',NULL,8941,NULL,'GO:0004999|F:vasoactive intestinal polypeptide receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137556,'Experimental MF/BP Leaf Term GOA',NULL,8942,NULL,'GO:0019732|P:antifungal humoral response|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(137557,'Experimental MF/BP Leaf Term GOA',NULL,8945,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1904874|P:positive regulation of telomerase RNA localization to Cajal body|IMP; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP; GO:0050821|P:protein stabilization|IMP; GO:0090666|P:scaRNA localization to Cajal body|IMP',NULL,NULL,NULL,NULL,NULL),(137558,'Experimental MF/BP Leaf Term GOA',NULL,8948,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0002042|P:cell migration involved in sprouting angiogenesis|IMP; GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA; GO:0044344|P:cellular response to fibroblast growth factor stimulus|IDA; GO:0035729|P:cellular response to hepatocyte growth factor stimulus|IDA; GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0071354|P:cellular response to interleukin-6|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA',NULL,NULL,NULL,NULL,NULL),(137559,'Experimental MF/BP Leaf Term GOA',NULL,8954,NULL,'GO:0048593|P:camera-type eye morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(137560,'Experimental MF/BP Leaf Term GOA',NULL,8956,NULL,'GO:0032289|P:central nervous system myelin formation|IMP',NULL,NULL,NULL,NULL,NULL),(137561,'Experimental MF/BP Leaf Term GOA',NULL,8961,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137562,'Experimental MF/BP Leaf Term GOA',NULL,8966,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137563,'Experimental MF/BP Leaf Term GOA',NULL,8969,NULL,'GO:0005524|F:ATP binding|IDA; GO:0015433|F:peptide antigen-transporting ATPase activity|IMP; GO:0046978|F:TAP1 binding|IPI; GO:0002489|P:antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|IMP; GO:0046968|P:peptide antigen transport|IDA',NULL,NULL,NULL,NULL,NULL),(137564,'Experimental MF/BP Leaf Term GOA',NULL,8971,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(137565,'Experimental MF/BP Leaf Term GOA',NULL,8972,NULL,'GO:0007023|P:post-chaperonin tubulin folding pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137566,'Experimental MF/BP Leaf Term GOA',NULL,8976,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137567,'Experimental MF/BP Leaf Term GOA',NULL,8977,NULL,'GO:0001540|F:amyloid-beta binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0005114|F:type II transforming growth factor beta receptor binding|IDA; GO:0034714|F:type III transforming growth factor beta receptor binding|IMP; GO:0060038|P:cardiac muscle cell proliferation|IDA; GO:0030199|P:collagen fibril organization|IDA; GO:0001942|P:hair follicle development|IDA; GO:0003007|P:heart morphogenesis|IDA; GO:0010693|P:negative regulation of alkaline phosphatase activity|IDA; GO:0010936|P:negative regulation of macrophage cytokine production|IDA; GO:0060389|P:pathway-restricted SMAD protein phosphorylation|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IDA; GO:0051795|P:positive regulation of timing of catagen|IDA; GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(137568,'Experimental MF/BP Leaf Term GOA',NULL,8979,NULL,'GO:0003810|F:protein-glutamine gamma-glutamyltransferase activity|IDA; GO:0043163|P:cell envelope organization|IDA',NULL,NULL,NULL,NULL,NULL),(137569,'Experimental MF/BP Leaf Term GOA',NULL,8984,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0004998|F:transferrin receptor activity|IDA; GO:0030890|P:positive regulation of B cell proliferation|IDA; GO:0033572|P:transferrin transport|IDA',NULL,NULL,NULL,NULL,NULL),(137570,'Experimental MF/BP Leaf Term GOA',NULL,8986,NULL,'GO:0008775|F:acetate CoA-transferase activity|EXP; GO:0016401|F:palmitoyl-CoA oxidase activity|IMP',NULL,NULL,NULL,NULL,NULL),(137571,'Experimental MF/BP Leaf Term GOA',NULL,8992,NULL,'GO:0060287|P:epithelial cilium movement involved in determination of left/right asymmetry|IMP; GO:0030317|P:flagellated sperm motility|IMP; GO:0036159|P:inner dynein arm assembly|IMP; GO:0044458|P:motile cilium assembly|IMP; GO:0036158|P:outer dynein arm assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137572,'Experimental MF/BP Leaf Term GOA',NULL,8993,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(137573,'Experimental MF/BP Leaf Term GOA',NULL,8995,NULL,'GO:2001033|P:negative regulation of double-strand break repair via nonhomologous end joining|IDA',NULL,NULL,NULL,NULL,NULL),(137574,'Experimental MF/BP Leaf Term GOA',NULL,8996,NULL,'GO:1905515|P:non-motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137575,'Experimental MF/BP Leaf Term GOA',NULL,9002,NULL,'GO:1901029|P:negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(137576,'Experimental MF/BP Leaf Term GOA',NULL,9003,NULL,'GO:0021987|P:cerebral cortex development|IMP',NULL,NULL,NULL,NULL,NULL),(137577,'Experimental MF/BP Leaf Term GOA',NULL,9005,NULL,'GO:0007042|P:lysosomal lumen acidification|IMP; GO:1905146|P:lysosomal protein catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(137578,'Experimental MF/BP Leaf Term GOA',NULL,9006,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0071455|P:cellular response to hyperoxia|IMP; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0036337|P:Fas signaling pathway|IMP; GO:0097527|P:necroptotic signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(137579,'Experimental MF/BP Leaf Term GOA',NULL,9010,NULL,'GO:0019855|F:calcium channel inhibitor activity|IPI; GO:0030172|F:troponin C binding|IPI; GO:0031014|F:troponin T binding|IPI; GO:0060048|P:cardiac muscle contraction|IMP; GO:0060047|P:heart contraction|IMP',NULL,NULL,NULL,NULL,NULL),(137580,'Experimental MF/BP Leaf Term GOA',NULL,9011,NULL,'GO:0051117|F:ATPase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137581,'Experimental MF/BP Leaf Term GOA',NULL,9012,NULL,'GO:0005523|F:tropomyosin binding|IMP',NULL,NULL,NULL,NULL,NULL),(137582,'Experimental MF/BP Leaf Term GOA',NULL,9013,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137583,'Experimental MF/BP Leaf Term GOA',NULL,9014,NULL,'GO:0038164|F:thrombopoietin receptor activity|IMP',NULL,NULL,NULL,NULL,NULL),(137584,'Experimental MF/BP Leaf Term GOA',NULL,9016,NULL,'GO:0033158|P:regulation of protein import into nucleus, translocation|IDA',NULL,NULL,NULL,NULL,NULL),(137585,'Experimental MF/BP Leaf Term GOA',NULL,9019,NULL,'GO:0034056|F:estrogen response element binding|IDA; GO:0070577|F:lysine-acetylated histone binding|IDA; GO:0002039|F:p53 binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0071391|P:cellular response to estrogen stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(137586,'Experimental MF/BP Leaf Term GOA',NULL,9023,NULL,'GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP; GO:0051045|P:negative regulation of membrane protein ectodomain proteolysis|IMP; GO:1903984|P:positive regulation of TRAIL-activated apoptotic signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(137587,'Experimental MF/BP Leaf Term GOA',NULL,9025,NULL,'GO:0071773|P:cellular response to BMP stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(137588,'Experimental MF/BP Leaf Term GOA',NULL,9026,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0007252|P:I-kappaB phosphorylation|IDA; GO:0097527|P:necroptotic signaling pathway|IDA; GO:0045356|P:positive regulation of interferon-alpha biosynthetic process|IDA; GO:0045359|P:positive regulation of interferon-beta biosynthetic process|IDA; GO:0045078|P:positive regulation of interferon-gamma biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137589,'Experimental MF/BP Leaf Term GOA',NULL,9029,NULL,'GO:0001530|F:lipopolysaccharide binding|IMP; GO:0001875|F:lipopolysaccharide receptor activity|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:1904646|P:cellular response to amyloid-beta|IGI; GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0032497|P:detection of lipopolysaccharide|IDA; GO:0007252|P:I-kappaB phosphorylation|IDA; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IGI; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:0045084|P:positive regulation of interleukin-12 biosynthetic process|IDA; GO:0045416|P:positive regulation of interleukin-8 biosynthetic process|IDA; GO:0042535|P:positive regulation of tumor necrosis factor biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137590,'Experimental MF/BP Leaf Term GOA',NULL,9030,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0035663|F:Toll-like receptor 2 binding|IPI; GO:0071727|P:cellular response to triacyl bacterial lipopeptide|IDA; GO:0042495|P:detection of triacyl bacterial lipopeptide|IDA; GO:2000484|P:positive regulation of interleukin-8 secretion|IGI; GO:0034137|P:positive regulation of toll-like receptor 2 signaling pathway|IGI',NULL,NULL,NULL,NULL,NULL),(137591,'Experimental MF/BP Leaf Term GOA',NULL,9031,NULL,'GO:0045040|P:protein import into mitochondrial outer membrane|IDA',NULL,NULL,NULL,NULL,NULL),(137592,'Experimental MF/BP Leaf Term GOA',NULL,9035,NULL,'GO:0030150|P:protein import into mitochondrial matrix|IGI',NULL,NULL,NULL,NULL,NULL),(137593,'Experimental MF/BP Leaf Term GOA',NULL,9042,NULL,'GO:0015643|F:toxic substance binding|IDA; GO:0009405|P:pathogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(137594,'Experimental MF/BP Leaf Term GOA',NULL,9047,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:2000353|P:positive regulation of endothelial cell apoptotic process|IDA; GO:0090037|P:positive regulation of protein kinase C signaling|IMP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(137595,'Experimental MF/BP Leaf Term GOA',NULL,9048,NULL,'GO:0005524|F:ATP binding|IMP; GO:0003917|F:DNA topoisomerase type I activity|IDA; GO:0097100|F:supercoiled DNA binding|IMP; GO:0032922|P:circadian regulation of gene expression|IMP; GO:0006265|P:DNA topological change|IDA',NULL,NULL,NULL,NULL,NULL),(137596,'Experimental MF/BP Leaf Term GOA',NULL,9052,NULL,'GO:0097604|F:temperature-gated cation channel activity|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(137597,'Experimental MF/BP Leaf Term GOA',NULL,9053,NULL,'GO:0031573|P:intra-S DNA damage checkpoint|IMP',NULL,NULL,NULL,NULL,NULL),(137598,'Experimental MF/BP Leaf Term GOA',NULL,9056,NULL,'GO:0005524|F:ATP binding|IDA',NULL,NULL,NULL,NULL,NULL),(137599,'Experimental MF/BP Leaf Term GOA',NULL,9057,NULL,'GO:0031836|F:neuromedin K receptor binding|IPI; GO:0031837|F:substance K receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(137600,'Experimental MF/BP Leaf Term GOA',NULL,9058,NULL,'GO:2000811|P:negative regulation of anoikis|IMP',NULL,NULL,NULL,NULL,NULL),(137601,'Experimental MF/BP Leaf Term GOA',NULL,9062,NULL,'GO:0033690|P:positive regulation of osteoblast proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(137602,'Experimental MF/BP Leaf Term GOA',NULL,9067,NULL,'GO:0030970|P:retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(137603,'Experimental MF/BP Leaf Term GOA',NULL,9068,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(137604,'Experimental MF/BP Leaf Term GOA',NULL,9072,NULL,'GO:0005523|F:tropomyosin binding|IMP; GO:0030172|F:troponin C binding|IPI; GO:0031013|F:troponin I binding|IPI',NULL,NULL,NULL,NULL,NULL),(137605,'Experimental MF/BP Leaf Term GOA',NULL,9075,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IMP',NULL,NULL,NULL,NULL,NULL),(137606,'Experimental MF/BP Leaf Term GOA',NULL,9076,NULL,'GO:0051117|F:ATPase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137607,'Experimental MF/BP Leaf Term GOA',NULL,9079,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0000287|F:magnesium ion binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0005080|F:protein kinase C binding|IPI; GO:0030263|P:apoptotic chromosome condensation|IDA; GO:0006265|P:DNA topological change|IDA; GO:0045870|P:positive regulation of single stranded viral RNA replication via double stranded DNA intermediate|IMP',NULL,NULL,NULL,NULL,NULL),(137608,'Experimental MF/BP Leaf Term GOA',NULL,9080,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0000086|P:G2/M transition of mitotic cell cycle|IDA',NULL,NULL,NULL,NULL,NULL),(137609,'Experimental MF/BP Leaf Term GOA',NULL,9081,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137610,'Experimental MF/BP Leaf Term GOA',NULL,9083,NULL,'GO:0072345|F:NAADP-sensitive calcium-release channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(137611,'Experimental MF/BP Leaf Term GOA',NULL,9084,NULL,'GO:0004807|F:triose-phosphate isomerase activity|EXP; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137612,'Experimental MF/BP Leaf Term GOA',NULL,9085,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(137613,'Experimental MF/BP Leaf Term GOA',NULL,9086,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:2000234|P:positive regulation of rRNA processing|IMP; GO:0070476|P:rRNA (guanine-N7)-methylation|IMP',NULL,NULL,NULL,NULL,NULL),(137614,'Experimental MF/BP Leaf Term GOA',NULL,9087,NULL,'GO:0046784|P:viral mRNA export from host cell nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(137615,'Experimental MF/BP Leaf Term GOA',NULL,9089,NULL,'GO:2000251|P:positive regulation of actin cytoskeleton reorganization|IMP; GO:0051894|P:positive regulation of focal adhesion assembly|IMP; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:0002040|P:sprouting angiogenesis|IMP; GO:0034446|P:substrate adhesion-dependent cell spreading|IMP; GO:0048014|P:Tie signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137616,'Experimental MF/BP Leaf Term GOA',NULL,9092,NULL,'GO:0030145|F:manganese ion binding|IDA; GO:0070006|F:metalloaminopeptidase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0003094|P:glomerular filtration|IMP',NULL,NULL,NULL,NULL,NULL),(137617,'Experimental MF/BP Leaf Term GOA',NULL,9093,NULL,'GO:0017147|F:Wnt-protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(137618,'Experimental MF/BP Leaf Term GOA',NULL,9095,NULL,'GO:0031836|F:neuromedin K receptor binding|IPI; GO:0031837|F:substance K receptor binding|IPI; GO:0031835|F:substance P receptor binding|IPI; GO:0019732|P:antifungal humoral response|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0050965|P:detection of temperature stimulus involved in sensory perception of pain|IDA; GO:1904058|P:positive regulation of sensory perception of pain|IDA',NULL,NULL,NULL,NULL,NULL),(137619,'Experimental MF/BP Leaf Term GOA',NULL,9104,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137620,'Experimental MF/BP Leaf Term GOA',NULL,9108,NULL,'GO:0046784|P:viral mRNA export from host cell nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(137621,'Experimental MF/BP Leaf Term GOA',NULL,9109,NULL,'GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:0051894|P:positive regulation of focal adhesion assembly|IMP; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(137622,'Experimental MF/BP Leaf Term GOA',NULL,9111,NULL,'GO:0004083|F:bisphosphoglycerate 2-phosphatase activity|IDA; GO:0004331|F:fructose-2,6-bisphosphate 2-phosphatase activity|IDA; GO:0071279|P:cellular response to cobalt ion|IDA; GO:0071456|P:cellular response to hypoxia|IDA; GO:0030388|P:fructose 1,6-bisphosphate metabolic process|IDA; GO:0006003|P:fructose 2,6-bisphosphate metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(137623,'Experimental MF/BP Leaf Term GOA',NULL,9112,NULL,'GO:0008191|F:metalloendopeptidase inhibitor activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0051045|P:negative regulation of membrane protein ectodomain proteolysis|IDA; GO:1901164|P:negative regulation of trophoblast cell migration|IMP',NULL,NULL,NULL,NULL,NULL),(137624,'Experimental MF/BP Leaf Term GOA',NULL,9117,NULL,'GO:0071480|P:cellular response to gamma radiation|IMP',NULL,NULL,NULL,NULL,NULL),(137625,'Experimental MF/BP Leaf Term GOA',NULL,9121,NULL,'GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(137626,'Experimental MF/BP Leaf Term GOA',NULL,9122,NULL,'GO:0006626|P:protein targeting to mitochondrion|IMP',NULL,NULL,NULL,NULL,NULL),(137627,'Experimental MF/BP Leaf Term GOA',NULL,9123,NULL,'GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0061635|P:regulation of protein complex stability|IMP',NULL,NULL,NULL,NULL,NULL),(137628,'Experimental MF/BP Leaf Term GOA',NULL,9127,NULL,'GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(137629,'Experimental MF/BP Leaf Term GOA',NULL,9128,NULL,'GO:0072675|P:osteoclast fusion|IDA',NULL,NULL,NULL,NULL,NULL),(137630,'Experimental MF/BP Leaf Term GOA',NULL,9129,NULL,'GO:0035329|P:hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(137631,'Experimental MF/BP Leaf Term GOA',NULL,9130,NULL,'GO:0007283|P:spermatogenesis|IDA',NULL,NULL,NULL,NULL,NULL),(137632,'Experimental MF/BP Leaf Term GOA',NULL,9131,NULL,'GO:0001018|F:mitochondrial promoter sequence-specific DNA binding|IDA; GO:0006391|P:transcription initiation from mitochondrial promoter|IDA',NULL,NULL,NULL,NULL,NULL),(137633,'Experimental MF/BP Leaf Term GOA',NULL,9132,NULL,'GO:0020037|F:heme binding|IMP; GO:0042803|F:protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(137634,'Experimental MF/BP Leaf Term GOA',NULL,9133,NULL,'GO:0017025|F:TBP-class protein binding|IDA; GO:0070324|F:thyroid hormone binding|IDA; GO:0004887|F:thyroid hormone receptor activity|IDA; GO:0017055|P:negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137635,'Experimental MF/BP Leaf Term GOA',NULL,9134,NULL,'GO:0071456|P:cellular response to hypoxia|IDA; GO:1902109|P:negative regulation of mitochondrial membrane permeability involved in apoptotic process|IDA; GO:1901029|P:negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137636,'Experimental MF/BP Leaf Term GOA',NULL,9136,NULL,'GO:0035928|P:rRNA import into mitochondrion|IMP',NULL,NULL,NULL,NULL,NULL),(137637,'Experimental MF/BP Leaf Term GOA',NULL,9137,NULL,'GO:0030676|F:Rac guanyl-nucleotide exchange factor activity|IDA; GO:0090630|P:activation of GTPase activity|IDA; GO:0016601|P:Rac protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(137638,'Experimental MF/BP Leaf Term GOA',NULL,9140,NULL,'GO:0036122|F:BMP binding|IPI; GO:0051373|F:FATZ binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:0008307|F:structural constituent of muscle|IMP; GO:0031432|F:titin binding|IPI; GO:0070080|F:titin Z domain binding|IPI; GO:0007512|P:adult heart development|IMP; GO:0060048|P:cardiac muscle contraction|IMP; GO:0048739|P:cardiac muscle fiber development|IMP; GO:0014898|P:cardiac muscle hypertrophy in response to stress|IMP; GO:0035995|P:detection of muscle stretch|IMP; GO:0045214|P:sarcomere organization|IMP; GO:0048769|P:sarcomerogenesis|IMP; GO:0030241|P:skeletal muscle myosin thick filament assembly|IMP; GO:0030240|P:skeletal muscle thin filament assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137639,'Experimental MF/BP Leaf Term GOA',NULL,9141,NULL,'GO:1904288|F:BAT3 complex binding|IPI; GO:0035800|F:deubiquitinase activator activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0097352|P:autophagosome maturation|IMP; GO:0061857|P:endoplasmic reticulum stress-induced pre-emptive quality control|IMP; GO:0071712|P:ER-associated misfolded protein catabolic process|IMP; GO:0072389|P:flavin adenine dinucleotide catabolic process|IMP; GO:2001171|P:positive regulation of ATP biosynthetic process|IMP; GO:1903007|P:positive regulation of Lys63-specific deubiquitinase activity|IDA; GO:0010918|P:positive regulation of mitochondrial membrane potential|IMP; GO:1903715|P:regulation of aerobic respiration|IMP; GO:0030970|P:retrograde protein transport, ER to cytosol|IDA; GO:0035617|P:stress granule disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(137640,'Experimental MF/BP Leaf Term GOA',NULL,9143,NULL,'GO:0003912|F:DNA nucleotidylexotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137641,'Experimental MF/BP Leaf Term GOA',NULL,9144,NULL,'GO:0097718|F:disordered domain specific binding|IMP; GO:0046982|F:protein heterodimerization activity|IPI; GO:0035329|P:hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(137642,'Experimental MF/BP Leaf Term GOA',NULL,9147,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0003968|F:RNA-directed 5\'-3\' RNA polymerase activity|IDA; GO:0003720|F:telomerase activity|IDA; GO:0070034|F:telomerase RNA binding|IDA; GO:0003721|F:telomerase RNA reverse transcriptase activity|IDA; GO:0098680|F:template-free RNA nucleotidyltransferase|IDA; GO:0071456|P:cellular response to hypoxia|IMP; GO:2000773|P:negative regulation of cellular senescence|IDA; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IMP; GO:1903704|P:negative regulation of production of siRNA involved in RNA interference|IDA; GO:0051000|P:positive regulation of nitric-oxide synthase activity|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IMP; GO:1904751|P:positive regulation of protein localization to nucleolus|IDA; GO:0090399|P:replicative senescence|IMP; GO:0007004|P:telomere maintenance via telomerase|IDA; GO:0001172|P:transcription, RNA-templated|IDA',NULL,NULL,NULL,NULL,NULL),(137643,'Experimental MF/BP Leaf Term GOA',NULL,9160,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0000979|F:RNA polymerase II core promoter sequence-specific DNA binding|IDA; GO:0017025|F:TBP-class protein binding|IPI; GO:0046966|F:thyroid hormone receptor binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0043923|P:positive regulation by host of viral transcription|IDA; GO:1904798|P:positive regulation of core promoter binding|IDA; GO:1990114|P:RNA polymerase II core complex assembly|IMP; GO:0051123|P:RNA polymerase II preinitiation complex assembly|IDA; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA; GO:0001174|P:transcriptional start site selection at RNA polymerase II promoter|IMP',NULL,NULL,NULL,NULL,NULL),(137644,'Experimental MF/BP Leaf Term GOA',NULL,9161,NULL,'GO:0070888|F:E-box binding|IDA; GO:0042826|F:histone deacetylase binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0006978|P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IDA; GO:0043922|P:negative regulation by host of viral transcription|IDA; GO:0071157|P:negative regulation of cell cycle arrest|IMP; GO:0043923|P:positive regulation by host of viral transcription|IDA',NULL,NULL,NULL,NULL,NULL),(137645,'Experimental MF/BP Leaf Term GOA',NULL,9163,NULL,'GO:0006391|P:transcription initiation from mitochondrial promoter|IDA',NULL,NULL,NULL,NULL,NULL),(137646,'Experimental MF/BP Leaf Term GOA',NULL,9164,NULL,'GO:0050431|F:transforming growth factor beta binding|IDA; GO:0034713|F:type I transforming growth factor beta receptor binding|IDA; GO:0005114|F:type II transforming growth factor beta receptor binding|IDA; GO:0034714|F:type III transforming growth factor beta receptor binding|IMP; GO:0060325|P:face morphogenesis|IMP; GO:0010936|P:negative regulation of macrophage cytokine production|IDA; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IDA; GO:0043932|P:ossification involved in bone remodeling|IEP; GO:0032967|P:positive regulation of collagen biosynthetic process|IMP; GO:0051496|P:positive regulation of stress fiber assembly|IDA; GO:1905075|P:positive regulation of tight junction disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(137647,'Experimental MF/BP Leaf Term GOA',NULL,9166,NULL,'GO:0070742|F:C2H2 zinc finger domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(137648,'Experimental MF/BP Leaf Term GOA',NULL,9171,NULL,'GO:0050333|F:thiamin-triphosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137649,'Experimental MF/BP Leaf Term GOA',NULL,9172,NULL,'GO:0008191|F:metalloendopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137650,'Experimental MF/BP Leaf Term GOA',NULL,9175,NULL,'GO:0031837|F:substance K receptor binding|IPI; GO:0031835|F:substance P receptor binding|IPI; GO:0050965|P:detection of temperature stimulus involved in sensory perception of pain|IDA; GO:1904057|P:negative regulation of sensory perception of pain|IDA; GO:1904058|P:positive regulation of sensory perception of pain|IDA',NULL,NULL,NULL,NULL,NULL),(137651,'Experimental MF/BP Leaf Term GOA',NULL,9184,NULL,'GO:0022841|F:potassium ion leak channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(137652,'Experimental MF/BP Leaf Term GOA',NULL,9192,NULL,'GO:0030890|P:positive regulation of B cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(137653,'Experimental MF/BP Leaf Term GOA',NULL,9197,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0042730|P:fibrinolysis|IDA',NULL,NULL,NULL,NULL,NULL),(137654,'Experimental MF/BP Leaf Term GOA',NULL,9206,NULL,'GO:0031014|F:troponin T binding|IPI',NULL,NULL,NULL,NULL,NULL),(137655,'Experimental MF/BP Leaf Term GOA',NULL,9207,NULL,'GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0031642|P:negative regulation of myelination|IMP',NULL,NULL,NULL,NULL,NULL),(137656,'Experimental MF/BP Leaf Term GOA',NULL,9208,NULL,'GO:0003917|F:DNA topoisomerase type I activity|IDA; GO:0006265|P:DNA topological change|IDA',NULL,NULL,NULL,NULL,NULL),(137657,'Experimental MF/BP Leaf Term GOA',NULL,9222,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IDA; GO:2001183|P:negative regulation of interleukin-12 secretion|IDA; GO:0045356|P:positive regulation of interferon-alpha biosynthetic process|IDA; GO:0045359|P:positive regulation of interferon-beta biosynthetic process|IDA; GO:0045078|P:positive regulation of interferon-gamma biosynthetic process|IDA; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:2000778|P:positive regulation of interleukin-6 secretion|IDA; GO:0045416|P:positive regulation of interleukin-8 biosynthetic process|IMP; GO:0034158|P:toll-like receptor 8 signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137658,'Experimental MF/BP Leaf Term GOA',NULL,9223,NULL,'GO:0035197|F:siRNA binding|IMP; GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0007252|P:I-kappaB phosphorylation|IDA; GO:1901895|P:negative regulation of calcium-transporting ATPase activity|IDA; GO:0030890|P:positive regulation of B cell proliferation|IDA; GO:0045356|P:positive regulation of interferon-alpha biosynthetic process|IDA; GO:0045359|P:positive regulation of interferon-beta biosynthetic process|IDA; GO:0045078|P:positive regulation of interferon-gamma biosynthetic process|IDA; GO:0032640|P:tumor necrosis factor production|IDA',NULL,NULL,NULL,NULL,NULL),(137659,'Experimental MF/BP Leaf Term GOA',NULL,9238,NULL,'GO:0050821|P:protein stabilization|IGI',NULL,NULL,NULL,NULL,NULL),(137660,'Experimental MF/BP Leaf Term GOA',NULL,9240,NULL,'GO:0006883|P:cellular sodium ion homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(137661,'Experimental MF/BP Leaf Term GOA',NULL,9241,NULL,'GO:0045967|P:negative regulation of growth rate|IDA',NULL,NULL,NULL,NULL,NULL),(137662,'Experimental MF/BP Leaf Term GOA',NULL,9243,NULL,'GO:0005523|F:tropomyosin binding|IDA; GO:0030172|F:troponin C binding|IPI; GO:0031013|F:troponin I binding|IPI; GO:0060048|P:cardiac muscle contraction|IDA; GO:0030049|P:muscle filament sliding|IDA',NULL,NULL,NULL,NULL,NULL),(137663,'Experimental MF/BP Leaf Term GOA',NULL,9244,NULL,'GO:0004535|F:poly(A)-specific ribonuclease activity|IDA',NULL,NULL,NULL,NULL,NULL),(137664,'Experimental MF/BP Leaf Term GOA',NULL,9249,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(137665,'Experimental MF/BP Leaf Term GOA',NULL,9251,NULL,'GO:0005113|F:patched binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0060738|P:epithelial-mesenchymal signaling involved in prostate gland development|IDA; GO:0061189|P:positive regulation of sclerotome development|IDA; GO:0072001|P:renal system development|IEP',NULL,NULL,NULL,NULL,NULL),(137666,'Experimental MF/BP Leaf Term GOA',NULL,9261,NULL,'GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:1901675|P:negative regulation of histone H3-K27 acetylation|IMP; GO:0002230|P:positive regulation of defense response to virus by host|IMP',NULL,NULL,NULL,NULL,NULL),(137667,'Experimental MF/BP Leaf Term GOA',NULL,9264,NULL,'GO:0070936|P:protein K48-linked ubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(137668,'Experimental MF/BP Leaf Term GOA',NULL,9279,NULL,'GO:0042104|P:positive regulation of activated T cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(137669,'Experimental MF/BP Leaf Term GOA',NULL,9280,NULL,'GO:0050681|F:androgen receptor binding|IPI; GO:0005112|F:Notch binding|IPI; GO:0042809|F:vitamin D receptor binding|IDA; GO:0071300|P:cellular response to retinoic acid|IDA; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP; GO:0043923|P:positive regulation by host of viral transcription|IDA; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IDA; GO:0070564|P:positive regulation of vitamin D receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137670,'Experimental MF/BP Leaf Term GOA',NULL,9281,NULL,'GO:0002039|F:p53 binding|IPI; GO:0001164|F:RNA polymerase I CORE element sequence-specific DNA binding|IMP; GO:0030957|F:Tat protein binding|IPI; GO:1900110|P:negative regulation of histone H3-K9 dimethylation|IMP; GO:1900113|P:negative regulation of histone H3-K9 trimethylation|IMP; GO:0043923|P:positive regulation by host of viral transcription|IMP; GO:1902661|P:positive regulation of glucose mediated signaling pathway|IDA; GO:2000617|P:positive regulation of histone H3-K9 acetylation|IMP; GO:1901838|P:positive regulation of transcription of nucleolar large rRNA by RNA polymerase I|IMP; GO:0039692|P:single stranded viral RNA replication via double stranded DNA intermediate|IDA',NULL,NULL,NULL,NULL,NULL),(137671,'Experimental MF/BP Leaf Term GOA',NULL,9282,NULL,'GO:0005158|F:insulin receptor binding|IDA; GO:1990460|F:leptin receptor binding|IDA; GO:1990459|F:transferrin receptor binding|IDA; GO:1903595|P:positive regulation of histamine secretion by mast cell|IMP',NULL,NULL,NULL,NULL,NULL),(137672,'Experimental MF/BP Leaf Term GOA',NULL,9285,NULL,'GO:0050750|F:low-density lipoprotein particle receptor binding|IDA; GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(137673,'Experimental MF/BP Leaf Term GOA',NULL,9286,NULL,'GO:0015347|F:sodium-independent organic anion transmembrane transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(137674,'Experimental MF/BP Leaf Term GOA',NULL,9289,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0034736|F:cholesterol O-acyltransferase activity|IDA; GO:0033344|P:cholesterol efflux|IMP; GO:0034435|P:cholesterol esterification|IDA; GO:0010878|P:cholesterol storage|IMP; GO:0010742|P:macrophage derived foam cell differentiation|IMP; GO:0042986|P:positive regulation of amyloid precursor protein biosynthetic process|IMP; GO:0034379|P:very-low-density lipoprotein particle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137675,'Experimental MF/BP Leaf Term GOA',NULL,9291,NULL,'GO:0090285|P:negative regulation of protein glycosylation in Golgi|IDA',NULL,NULL,NULL,NULL,NULL),(137676,'Experimental MF/BP Leaf Term GOA',NULL,9292,NULL,'GO:0007175|P:negative regulation of epidermal growth factor-activated receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137677,'Experimental MF/BP Leaf Term GOA',NULL,9296,NULL,'GO:0005525|F:GTP binding|IMP; GO:0000287|F:magnesium ion binding|IMP; GO:0042803|F:protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(137678,'Experimental MF/BP Leaf Term GOA',NULL,9299,NULL,'GO:0070728|F:leucine binding|IDA; GO:1904262|P:negative regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137679,'Experimental MF/BP Leaf Term GOA',NULL,9300,NULL,'GO:0044344|P:cellular response to fibroblast growth factor stimulus|IDA; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0071300|P:cellular response to retinoic acid|IDA; GO:2000806|P:positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled|IMP; GO:0043491|P:protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(137680,'Experimental MF/BP Leaf Term GOA',NULL,9302,NULL,'GO:0043152|P:induction of bacterial agglutination|IMP; GO:0048286|P:lung alveolus development|IMP; GO:0043129|P:surfactant homeostasis|IMP',NULL,NULL,NULL,NULL,NULL),(137681,'Experimental MF/BP Leaf Term GOA',NULL,9303,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137682,'Experimental MF/BP Leaf Term GOA',NULL,9306,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137683,'Experimental MF/BP Leaf Term GOA',NULL,9307,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(137684,'Experimental MF/BP Leaf Term GOA',NULL,9310,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0032486|P:Rap protein signal transduction|IEP; GO:0032483|P:regulation of Rab protein signal transduction|IEP',NULL,NULL,NULL,NULL,NULL),(137685,'Experimental MF/BP Leaf Term GOA',NULL,9311,NULL,'GO:0034260|P:negative regulation of GTPase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137686,'Experimental MF/BP Leaf Term GOA',NULL,9325,NULL,'GO:0006388|P:tRNA splicing, via endonucleolytic cleavage and ligation|IDA',NULL,NULL,NULL,NULL,NULL),(137687,'Experimental MF/BP Leaf Term GOA',NULL,9328,NULL,'GO:1902857|P:positive regulation of non-motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137688,'Experimental MF/BP Leaf Term GOA',NULL,9329,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0042800|F:histone methyltransferase activity (H3-K4 specific)|IDA',NULL,NULL,NULL,NULL,NULL),(137689,'Experimental MF/BP Leaf Term GOA',NULL,9334,NULL,'GO:0003214|P:cardiac left ventricle morphogenesis|IMP; GO:0003151|P:outflow tract morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(137690,'Experimental MF/BP Leaf Term GOA',NULL,9335,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(137691,'Experimental MF/BP Leaf Term GOA',NULL,9336,NULL,'GO:0017147|F:Wnt-protein binding|IDA; GO:2000119|P:negative regulation of sodium-dependent phosphate transport|IDA; GO:1902174|P:positive regulation of keratinocyte apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(137692,'Experimental MF/BP Leaf Term GOA',NULL,9337,NULL,'GO:0005096|F:GTPase activator activity|IMP; GO:0034499|P:late endosome to Golgi transport|IMP',NULL,NULL,NULL,NULL,NULL),(137693,'Experimental MF/BP Leaf Term GOA',NULL,9340,NULL,'GO:0003835|F:beta-galactoside alpha-2,6-sialyltransferase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137694,'Experimental MF/BP Leaf Term GOA',NULL,9341,NULL,'GO:0033691|F:sialic acid binding|IDA',NULL,NULL,NULL,NULL,NULL),(137695,'Experimental MF/BP Leaf Term GOA',NULL,9347,NULL,'GO:0070139|F:SUMO-specific endopeptidase activity|IDA; GO:0031648|P:protein destabilization|IMP; GO:0016926|P:protein desumoylation|IDA',NULL,NULL,NULL,NULL,NULL),(137696,'Experimental MF/BP Leaf Term GOA',NULL,9348,NULL,'GO:0070139|F:SUMO-specific endopeptidase activity|IMP; GO:0016926|P:protein desumoylation|IMP',NULL,NULL,NULL,NULL,NULL),(137697,'Experimental MF/BP Leaf Term GOA',NULL,9351,NULL,'GO:0002039|F:p53 binding|IPI',NULL,NULL,NULL,NULL,NULL),(137698,'Experimental MF/BP Leaf Term GOA',NULL,9356,NULL,'GO:0003836|F:beta-galactoside (CMP) alpha-2,3-sialyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137699,'Experimental MF/BP Leaf Term GOA',NULL,9357,NULL,'GO:0035176|P:social behavior|IMP; GO:0042297|P:vocal learning|IMP',NULL,NULL,NULL,NULL,NULL),(137700,'Experimental MF/BP Leaf Term GOA',NULL,9358,NULL,'GO:2001034|P:positive regulation of double-strand break repair via nonhomologous end joining|IDA',NULL,NULL,NULL,NULL,NULL),(137701,'Experimental MF/BP Leaf Term GOA',NULL,9361,NULL,'GO:0005095|F:GTPase inhibitor activity|IDA; GO:0008201|F:heparin binding|IDA; GO:0043237|F:laminin-1 binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0048495|F:Roundabout binding|IPI; GO:0061364|P:apoptotic process involved in luteolysis|IEP; GO:0048846|P:axon extension involved in axon guidance|IDA; GO:0002042|P:cell migration involved in sprouting angiogenesis|IMP; GO:0071504|P:cellular response to heparin|IDA; GO:0021836|P:chemorepulsion involved in postnatal olfactory bulb interneuron migration|IDA; GO:0021972|P:corticospinal neuron axon guidance through spinal cord|IMP; GO:0050929|P:induction of negative chemotaxis|IDA; GO:0010593|P:negative regulation of lamellipodium assembly|IDA; GO:0090024|P:negative regulation of neutrophil chemotaxis|IDA; GO:0090260|P:negative regulation of retinal ganglion cell axon guidance|IDA; GO:0071672|P:negative regulation of smooth muscle cell chemotaxis|IDA; GO:0043116|P:negative regulation of vascular permeability|IDA; GO:0031290|P:retinal ganglion cell axon guidance|IDA; GO:0001657|P:ureteric bud development|IMP',NULL,NULL,NULL,NULL,NULL),(137702,'Experimental MF/BP Leaf Term GOA',NULL,9362,NULL,'GO:0003941|F:L-serine ammonia-lyase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0030170|F:pyridoxal phosphate binding|IDA; GO:0006565|P:L-serine catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(137703,'Experimental MF/BP Leaf Term GOA',NULL,9363,NULL,'GO:0030165|F:PDZ domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(137704,'Experimental MF/BP Leaf Term GOA',NULL,9364,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0071456|P:cellular response to hypoxia|IEP',NULL,NULL,NULL,NULL,NULL),(137705,'Experimental MF/BP Leaf Term GOA',NULL,9365,NULL,'GO:0008177|F:succinate dehydrogenase (ubiquinone) activity|IMP; GO:0007399|P:nervous system development|IMP',NULL,NULL,NULL,NULL,NULL),(137706,'Experimental MF/BP Leaf Term GOA',NULL,9367,NULL,'GO:0071354|P:cellular response to interleukin-6|IDA; GO:0050901|P:leukocyte tethering or rolling|IDA',NULL,NULL,NULL,NULL,NULL),(137707,'Experimental MF/BP Leaf Term GOA',NULL,9373,NULL,'GO:0008270|F:zinc ion binding|IMP; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:1901318|P:negative regulation of flagellated sperm motility|IDA; GO:1900005|P:positive regulation of serine-type endopeptidase activity|IMP',NULL,NULL,NULL,NULL,NULL),(137708,'Experimental MF/BP Leaf Term GOA',NULL,9375,NULL,'GO:1902857|P:positive regulation of non-motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137709,'Experimental MF/BP Leaf Term GOA',NULL,9376,NULL,'GO:0071391|P:cellular response to estrogen stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(137710,'Experimental MF/BP Leaf Term GOA',NULL,9377,NULL,'GO:0044547|F:DNA topoisomerase binding|IPI; GO:0046975|F:histone methyltransferase activity (H3-K36 specific)|IDA; GO:0042800|F:histone methyltransferase activity (H3-K4 specific)|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0097676|P:histone H3-K36 dimethylation|IMP; GO:0071157|P:negative regulation of cell cycle arrest|IMP; GO:2000373|P:positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity|IDA; GO:2001034|P:positive regulation of double-strand break repair via nonhomologous end joining|IDA',NULL,NULL,NULL,NULL,NULL),(137711,'Experimental MF/BP Leaf Term GOA',NULL,9378,NULL,'GO:0070728|F:leucine binding|IDA; GO:0032542|F:sulfiredoxin activity|IDA; GO:0071233|P:cellular response to leucine|IMP; GO:1990253|P:cellular response to leucine starvation|IMP; GO:1904262|P:negative regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137712,'Experimental MF/BP Leaf Term GOA',NULL,9380,NULL,'GO:0042392|F:sphingosine-1-phosphate phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137713,'Experimental MF/BP Leaf Term GOA',NULL,9381,NULL,'GO:0042632|P:cholesterol homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(137714,'Experimental MF/BP Leaf Term GOA',NULL,9382,NULL,'GO:0003836|F:beta-galactoside (CMP) alpha-2,3-sialyltransferase activity|IDA; GO:0047288|F:monosialoganglioside sialyltransferase activity|IDA; GO:0030259|P:lipid glycosylation|IDA; GO:1990743|P:protein sialylation|IDA',NULL,NULL,NULL,NULL,NULL),(137715,'Experimental MF/BP Leaf Term GOA',NULL,9384,NULL,'GO:0001665|F:alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity|IDA; GO:1990743|P:protein sialylation|IDA',NULL,NULL,NULL,NULL,NULL),(137716,'Experimental MF/BP Leaf Term GOA',NULL,9385,NULL,'GO:0097039|P:protein linear polyubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(137717,'Experimental MF/BP Leaf Term GOA',NULL,9386,NULL,'GO:0051865|P:protein autoubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(137718,'Experimental MF/BP Leaf Term GOA',NULL,9388,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:2000786|P:positive regulation of autophagosome assembly|IMP; GO:1903527|P:positive regulation of membrane tubulation|IMP',NULL,NULL,NULL,NULL,NULL),(137719,'Experimental MF/BP Leaf Term GOA',NULL,9392,NULL,'GO:0008269|F:JAK pathway signal transduction adaptor activity|IDA; GO:0005070|F:SH3/SH2 adaptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137720,'Experimental MF/BP Leaf Term GOA',NULL,9393,NULL,'GO:1904262|P:negative regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137721,'Experimental MF/BP Leaf Term GOA',NULL,9398,NULL,'GO:0050894|P:determination of affect|IMP; GO:0035176|P:social behavior|IMP',NULL,NULL,NULL,NULL,NULL),(137722,'Experimental MF/BP Leaf Term GOA',NULL,9402,NULL,'GO:0005096|F:GTPase activator activity|EXP',NULL,NULL,NULL,NULL,NULL),(137723,'Experimental MF/BP Leaf Term GOA',NULL,9404,NULL,'GO:0051010|F:microtubule plus-end binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0042169|F:SH2 domain binding|IDA; GO:0071364|P:cellular response to epidermal growth factor stimulus|IMP; GO:0033634|P:positive regulation of cell-cell adhesion mediated by integrin|IGI; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IDA; GO:0050852|P:T cell receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(137724,'Experimental MF/BP Leaf Term GOA',NULL,9407,NULL,'GO:0072540|P:T-helper 17 cell lineage commitment|IDA',NULL,NULL,NULL,NULL,NULL),(137725,'Experimental MF/BP Leaf Term GOA',NULL,9408,NULL,'GO:0097372|F:NAD-dependent histone deacetylase activity (H3-K18 specific)|IDA',NULL,NULL,NULL,NULL,NULL),(137726,'Experimental MF/BP Leaf Term GOA',NULL,9412,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137727,'Experimental MF/BP Leaf Term GOA',NULL,9413,NULL,'GO:0071222|P:cellular response to lipopolysaccharide|IDA',NULL,NULL,NULL,NULL,NULL),(137728,'Experimental MF/BP Leaf Term GOA',NULL,9415,NULL,'GO:0017108|F:5\'-flap endonuclease activity|IDA; GO:0008821|F:crossover junction endodeoxyribonuclease activity|IDA; GO:0010792|P:DNA double-strand break processing involved in repair via single-strand annealing|IMP; GO:0090656|P:t-circle formation|IMP; GO:0061820|P:telomeric D-loop disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(137729,'Experimental MF/BP Leaf Term GOA',NULL,9416,NULL,'GO:0070410|F:co-SMAD binding|IPI; GO:0017151|F:DEAD/H-box RNA helicase binding|IPI; GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0031962|F:mineralocorticoid receptor binding|IPI; GO:0070878|F:primary miRNA binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0070412|F:R-SMAD binding|IPI; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0000983|F:transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding|IDA; GO:0030618|F:transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:1901203|P:positive regulation of extracellular matrix assembly|IDA; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IMP; GO:0007183|P:SMAD protein complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137730,'Experimental MF/BP Leaf Term GOA',NULL,9417,NULL,'GO:0035964|P:COPI-coated vesicle budding|IDA',NULL,NULL,NULL,NULL,NULL),(137731,'Experimental MF/BP Leaf Term GOA',NULL,9423,NULL,'GO:0017065|F:single-strand selective uracil DNA N-glycosylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137732,'Experimental MF/BP Leaf Term GOA',NULL,9424,NULL,'GO:1902902|P:negative regulation of autophagosome assembly|IMP; GO:1901098|P:positive regulation of autophagosome maturation|IMP',NULL,NULL,NULL,NULL,NULL),(137733,'Experimental MF/BP Leaf Term GOA',NULL,9425,NULL,'GO:0003407|P:neural retina development|IEP; GO:0002052|P:positive regulation of neuroblast proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(137734,'Experimental MF/BP Leaf Term GOA',NULL,9426,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137735,'Experimental MF/BP Leaf Term GOA',NULL,9428,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0070888|F:E-box binding|IDA; GO:0001649|P:osteoblast differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(137736,'Experimental MF/BP Leaf Term GOA',NULL,9430,NULL,'GO:0060394|P:negative regulation of pathway-restricted SMAD protein phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(137737,'Experimental MF/BP Leaf Term GOA',NULL,9441,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(137738,'Experimental MF/BP Leaf Term GOA',NULL,9442,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IMP',NULL,NULL,NULL,NULL,NULL),(137739,'Experimental MF/BP Leaf Term GOA',NULL,9445,NULL,'GO:0001784|F:phosphotyrosine residue binding|IPI',NULL,NULL,NULL,NULL,NULL),(137740,'Experimental MF/BP Leaf Term GOA',NULL,9451,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137741,'Experimental MF/BP Leaf Term GOA',NULL,9465,NULL,'GO:0015386|F:potassium:proton antiporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(137742,'Experimental MF/BP Leaf Term GOA',NULL,9466,NULL,'GO:0099560|P:synaptic membrane adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(137743,'Experimental MF/BP Leaf Term GOA',NULL,9467,NULL,'GO:0099560|P:synaptic membrane adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(137744,'Experimental MF/BP Leaf Term GOA',NULL,9473,NULL,'GO:0005524|F:ATP binding|IDA; GO:0043141|F:ATP-dependent 5\'-3\' DNA helicase activity|IDA; GO:0032575|F:ATP-dependent 5\'-3\' RNA helicase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137745,'Experimental MF/BP Leaf Term GOA',NULL,9474,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137746,'Experimental MF/BP Leaf Term GOA',NULL,9477,NULL,'GO:0005525|F:GTP binding|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(137747,'Experimental MF/BP Leaf Term GOA',NULL,9479,NULL,'GO:0008239|F:dipeptidyl-peptidase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0010716|P:negative regulation of extracellular matrix disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(137748,'Experimental MF/BP Leaf Term GOA',NULL,9480,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(137749,'Experimental MF/BP Leaf Term GOA',NULL,9482,NULL,'GO:0070139|F:SUMO-specific endopeptidase activity|EXP',NULL,NULL,NULL,NULL,NULL),(137750,'Experimental MF/BP Leaf Term GOA',NULL,9501,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137751,'Experimental MF/BP Leaf Term GOA',NULL,9504,NULL,'GO:0001681|F:sialate O-acetylesterase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137752,'Experimental MF/BP Leaf Term GOA',NULL,9506,NULL,'GO:0043398|F:HLH domain binding|IPI; GO:1990254|F:keratin filament binding|IPI; GO:0002039|F:p53 binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0071456|P:cellular response to hypoxia|IMP; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0000183|P:chromatin silencing at rDNA|IDA; GO:0032922|P:circadian regulation of gene expression|IMP; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IMP; GO:2000480|P:negative regulation of cAMP-dependent protein kinase activity|IDA; GO:2000655|P:negative regulation of cellular response to testosterone stimulus|IMP; GO:2000773|P:negative regulation of cellular senescence|IDA; GO:0071441|P:negative regulation of histone H3-K14 acetylation|IMP; GO:2000619|P:negative regulation of histone H4-K16 acetylation|IMP; GO:0051898|P:negative regulation of protein kinase B signaling|IMP; GO:0034983|P:peptidyl-lysine deacetylation|IDA; GO:2000481|P:positive regulation of cAMP-dependent protein kinase activity|IMP; GO:2000774|P:positive regulation of cellular senescence|IDA; GO:0045348|P:positive regulation of MHC class II biosynthetic process|IDA; GO:0031648|P:protein destabilization|IDA; GO:0000720|P:pyrimidine dimer repair by nucleotide-excision repair|IMP; GO:0033158|P:regulation of protein import into nucleus, translocation|IMP; GO:0070914|P:UV-damage excision repair|IMP',NULL,NULL,NULL,NULL,NULL),(137753,'Experimental MF/BP Leaf Term GOA',NULL,9507,NULL,'GO:0047708|F:biotinidase activity|IDA; GO:0061690|F:lipoamidase activity|IDA; GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137754,'Experimental MF/BP Leaf Term GOA',NULL,9511,NULL,'GO:0051059|F:NF-kappaB binding|IPI',NULL,NULL,NULL,NULL,NULL),(137755,'Experimental MF/BP Leaf Term GOA',NULL,9513,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137756,'Experimental MF/BP Leaf Term GOA',NULL,9519,NULL,'GO:0008117|F:sphinganine-1-phosphate aldolase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137757,'Experimental MF/BP Leaf Term GOA',NULL,9520,NULL,'GO:0008157|F:protein phosphatase 1 binding|IDA',NULL,NULL,NULL,NULL,NULL),(137758,'Experimental MF/BP Leaf Term GOA',NULL,9526,NULL,'GO:0050277|F:sedoheptulokinase activity|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA',NULL,NULL,NULL,NULL,NULL),(137759,'Experimental MF/BP Leaf Term GOA',NULL,9528,NULL,'GO:0003828|F:alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137760,'Experimental MF/BP Leaf Term GOA',NULL,9529,NULL,'GO:2000233|P:negative regulation of rRNA processing|IDA',NULL,NULL,NULL,NULL,NULL),(137761,'Experimental MF/BP Leaf Term GOA',NULL,9534,NULL,'GO:0000070|P:mitotic sister chromatid segregation|IMP',NULL,NULL,NULL,NULL,NULL),(137762,'Experimental MF/BP Leaf Term GOA',NULL,9535,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0070208|P:protein heterotrimerization|IDA; GO:0070207|P:protein homotrimerization|IDA',NULL,NULL,NULL,NULL,NULL),(137763,'Experimental MF/BP Leaf Term GOA',NULL,9539,NULL,'GO:0048495|F:Roundabout binding|IPI; GO:0061364|P:apoptotic process involved in luteolysis|IEP; GO:0048846|P:axon extension involved in axon guidance|IDA',NULL,NULL,NULL,NULL,NULL),(137764,'Experimental MF/BP Leaf Term GOA',NULL,9542,NULL,'GO:0010792|P:DNA double-strand break processing involved in repair via single-strand annealing|IMP; GO:0072429|P:response to intra-S DNA damage checkpoint signaling|IMP; GO:0090656|P:t-circle formation|IMP; GO:0061820|P:telomeric D-loop disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(137765,'Experimental MF/BP Leaf Term GOA',NULL,9544,NULL,'GO:0070034|F:telomerase RNA binding|IPI; GO:0030620|F:U2 snRNA binding|IPI; GO:0071209|F:U7 snRNA binding|IPI',NULL,NULL,NULL,NULL,NULL),(137766,'Experimental MF/BP Leaf Term GOA',NULL,9545,NULL,'GO:0048096|P:chromatin-mediated maintenance of transcription|IMP',NULL,NULL,NULL,NULL,NULL),(137767,'Experimental MF/BP Leaf Term GOA',NULL,9549,NULL,'GO:0005109|F:frizzled binding|IPI; GO:0008201|F:heparin binding|IDA; GO:0017147|F:Wnt-protein binding|IDA; GO:0071773|P:cellular response to BMP stimulus|IEP; GO:0071392|P:cellular response to estradiol stimulus|IEP; GO:0071391|P:cellular response to estrogen stimulus|IDA; GO:0044344|P:cellular response to fibroblast growth factor stimulus|IDA; GO:0071504|P:cellular response to heparin|IDA; GO:0071456|P:cellular response to hypoxia|IEP; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071380|P:cellular response to prostaglandin E stimulus|IEP; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IEP; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0071305|P:cellular response to vitamin D|IEP; GO:0060218|P:hematopoietic stem cell differentiation|IDA; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IDA; GO:2000080|P:negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation|IDA; GO:2000270|P:negative regulation of fibroblast apoptotic process|IDA; GO:0033689|P:negative regulation of osteoblast proliferation|IMP; GO:2000054|P:negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification|IDA; GO:0001649|P:osteoblast differentiation|IEP; GO:2000271|P:positive regulation of fibroblast apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(137768,'Experimental MF/BP Leaf Term GOA',NULL,9551,NULL,'GO:0051898|P:negative regulation of protein kinase B signaling|IMP; GO:2000057|P:negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(137769,'Experimental MF/BP Leaf Term GOA',NULL,9552,NULL,'GO:0070207|P:protein homotrimerization|IPI',NULL,NULL,NULL,NULL,NULL),(137770,'Experimental MF/BP Leaf Term GOA',NULL,9555,NULL,'GO:0008157|F:protein phosphatase 1 binding|IDA; GO:0051865|P:protein autoubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(137771,'Experimental MF/BP Leaf Term GOA',NULL,9556,NULL,'GO:1904288|F:BAT3 complex binding|IPI; GO:1903070|P:negative regulation of ER-associated ubiquitin-dependent protein catabolic process|IDA; GO:1903071|P:positive regulation of ER-associated ubiquitin-dependent protein catabolic process|IMP; GO:0071816|P:tail-anchored membrane protein insertion into ER membrane|IDA',NULL,NULL,NULL,NULL,NULL),(137772,'Experimental MF/BP Leaf Term GOA',NULL,9561,NULL,'GO:0047291|F:lactosylceramide alpha-2,3-sialyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137773,'Experimental MF/BP Leaf Term GOA',NULL,9570,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137774,'Experimental MF/BP Leaf Term GOA',NULL,9571,NULL,'GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137775,'Experimental MF/BP Leaf Term GOA',NULL,9574,NULL,'GO:0010348|F:lithium:proton antiporter activity|IMP',NULL,NULL,NULL,NULL,NULL),(137776,'Experimental MF/BP Leaf Term GOA',NULL,9577,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0070207|P:protein homotrimerization|IDA; GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(137777,'Experimental MF/BP Leaf Term GOA',NULL,9579,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137778,'Experimental MF/BP Leaf Term GOA',NULL,9581,NULL,'GO:0099560|P:synaptic membrane adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(137779,'Experimental MF/BP Leaf Term GOA',NULL,9586,NULL,'GO:0036310|F:annealing helicase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137780,'Experimental MF/BP Leaf Term GOA',NULL,9589,NULL,'GO:0046854|P:phosphatidylinositol phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(137781,'Experimental MF/BP Leaf Term GOA',NULL,9598,NULL,'GO:0004996|F:thyroid-stimulating hormone receptor activity|IMP; GO:1905229|P:cellular response to thyrotropin-releasing hormone|IMP; GO:0038194|P:thyroid-stimulating hormone signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(137782,'Experimental MF/BP Leaf Term GOA',NULL,9607,NULL,'GO:0070052|F:collagen V binding|IDA; GO:0070051|F:fibrinogen binding|IDA; GO:0017134|F:fibroblast growth factor binding|IDA; GO:0001968|F:fibronectin binding|IDA; GO:0008201|F:heparin binding|IDA; GO:0030169|F:low-density lipoprotein particle binding|IDA; GO:0001786|F:phosphatidylserine binding|IDA; GO:0043652|P:engulfment of apoptotic cell|IDA; GO:1903588|P:negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IMP; GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IMP; GO:0010754|P:negative regulation of cGMP-mediated signaling|IDA; GO:0051918|P:negative regulation of fibrinolysis|IDA; GO:0010751|P:negative regulation of nitric oxide mediated signal transduction|IDA; GO:0010748|P:negative regulation of plasma membrane long-chain fatty acid transport|IDA; GO:0010757|P:negative regulation of plasminogen activation|IDA; GO:2000353|P:positive regulation of endothelial cell apoptotic process|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IDA; GO:0042535|P:positive regulation of tumor necrosis factor biosynthetic process|IDA; GO:0002040|P:sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(137783,'Experimental MF/BP Leaf Term GOA',NULL,9611,NULL,'GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137784,'Experimental MF/BP Leaf Term GOA',NULL,9613,NULL,'GO:1902817|P:negative regulation of protein localization to microtubule|IMP',NULL,NULL,NULL,NULL,NULL),(137785,'Experimental MF/BP Leaf Term GOA',NULL,9614,NULL,'GO:0071480|P:cellular response to gamma radiation|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137786,'Experimental MF/BP Leaf Term GOA',NULL,9625,NULL,'GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(137787,'Experimental MF/BP Leaf Term GOA',NULL,9631,NULL,'GO:0018094|P:protein polyglycylation|IDA',NULL,NULL,NULL,NULL,NULL),(137788,'Experimental MF/BP Leaf Term GOA',NULL,9634,NULL,'GO:0072320|F:volume-sensitive chloride channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(137789,'Experimental MF/BP Leaf Term GOA',NULL,9636,NULL,'GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0050908|P:detection of light stimulus involved in visual perception|IMP',NULL,NULL,NULL,NULL,NULL),(137790,'Experimental MF/BP Leaf Term GOA',NULL,9637,NULL,'GO:0120160|F:intraciliary transport particle A binding|IDA',NULL,NULL,NULL,NULL,NULL),(137791,'Experimental MF/BP Leaf Term GOA',NULL,9638,NULL,'GO:0050265|F:RNA uridylyltransferase activity|IDA; GO:0010587|P:miRNA catabolic process|IMP; GO:0010526|P:negative regulation of transposition, RNA-mediated|IDA; GO:0031054|P:pre-miRNA processing|IDA',NULL,NULL,NULL,NULL,NULL),(137792,'Experimental MF/BP Leaf Term GOA',NULL,9640,NULL,'GO:0035198|F:miRNA binding|IDA; GO:0050265|F:RNA uridylyltransferase activity|IDA; GO:0010526|P:negative regulation of transposition, RNA-mediated|IDA; GO:0031054|P:pre-miRNA processing|IDA; GO:0071076|P:RNA 3\' uridylation|IDA',NULL,NULL,NULL,NULL,NULL),(137793,'Experimental MF/BP Leaf Term GOA',NULL,9664,NULL,'GO:0070260|F:5\'-tyrosyl-DNA phosphodiesterase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0036317|F:tyrosyl-RNA phosphodiesterase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137794,'Experimental MF/BP Leaf Term GOA',NULL,9669,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0045556|P:positive regulation of TRAIL biosynthetic process|IDA; GO:0042535|P:positive regulation of tumor necrosis factor biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137795,'Experimental MF/BP Leaf Term GOA',NULL,9670,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(137796,'Experimental MF/BP Leaf Term GOA',NULL,9672,NULL,'GO:0009020|F:tRNA (guanosine-2\'-O-)-methyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(137797,'Experimental MF/BP Leaf Term GOA',NULL,9681,NULL,'GO:0005229|F:intracellular calcium activated chloride channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(137798,'Experimental MF/BP Leaf Term GOA',NULL,9694,NULL,'GO:0005524|F:ATP binding|IDA; GO:0043538|P:regulation of actin phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(137799,'Experimental MF/BP Leaf Term GOA',NULL,9695,NULL,'GO:0050431|F:transforming growth factor beta binding|IDA; GO:2000562|P:negative regulation of CD4-positive, alpha-beta T cell proliferation|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(137800,'Experimental MF/BP Leaf Term GOA',NULL,9696,NULL,'GO:0005524|F:ATP binding|IDA; GO:0005080|F:protein kinase C binding|IPI; GO:0071300|P:cellular response to retinoic acid|IMP; GO:0010592|P:positive regulation of lamellipodium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137801,'Experimental MF/BP Leaf Term GOA',NULL,9697,NULL,'GO:0070888|F:E-box binding|IDA; GO:0003180|P:aortic valve morphogenesis|IMP; GO:0071456|P:cellular response to hypoxia|IMP; GO:0060900|P:embryonic camera-type eye formation|IMP; GO:0048701|P:embryonic cranial skeleton morphogenesis|IMP; GO:0061029|P:eyelid development in camera-type eye|IMP; GO:2000773|P:negative regulation of cellular senescence|IMP; GO:0014067|P:negative regulation of phosphatidylinositol 3-kinase signaling|IMP; GO:2000778|P:positive regulation of interleukin-6 secretion|IMP; GO:0071639|P:positive regulation of monocyte chemotactic protein-1 production|IMP',NULL,NULL,NULL,NULL,NULL),(137802,'Experimental MF/BP Leaf Term GOA',NULL,9698,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0090630|P:activation of GTPase activity|IDA; GO:2000009|P:negative regulation of protein localization to cell surface|IDA',NULL,NULL,NULL,NULL,NULL),(137803,'Experimental MF/BP Leaf Term GOA',NULL,9700,NULL,'GO:0004252|F:serine-type endopeptidase activity|IMP',NULL,NULL,NULL,NULL,NULL),(137804,'Experimental MF/BP Leaf Term GOA',NULL,9704,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA',NULL,NULL,NULL,NULL,NULL),(137805,'Experimental MF/BP Leaf Term GOA',NULL,9706,NULL,'GO:0005516|F:calmodulin binding|IMP; GO:0043117|P:positive regulation of vascular permeability|IMP',NULL,NULL,NULL,NULL,NULL),(137806,'Experimental MF/BP Leaf Term GOA',NULL,9707,NULL,'GO:0051087|F:chaperone binding|IPI',NULL,NULL,NULL,NULL,NULL),(137807,'Experimental MF/BP Leaf Term GOA',NULL,9708,NULL,'GO:0001582|P:detection of chemical stimulus involved in sensory perception of sweet taste|IDA; GO:0050916|P:sensory perception of sweet taste|IDA',NULL,NULL,NULL,NULL,NULL),(137808,'Experimental MF/BP Leaf Term GOA',NULL,9709,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0030574|P:collagen catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(137809,'Experimental MF/BP Leaf Term GOA',NULL,9710,NULL,'GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(137810,'Experimental MF/BP Leaf Term GOA',NULL,9715,NULL,'GO:0005139|F:interleukin-7 receptor binding|IMP; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0044140|P:negative regulation of growth of symbiont on or near host surface|IDA; GO:0071654|P:positive regulation of chemokine (C-C motif) ligand 1 production|IMP; GO:0071657|P:positive regulation of granulocyte colony-stimulating factor production|IMP; GO:2000664|P:positive regulation of interleukin-5 secretion|IMP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(137811,'Experimental MF/BP Leaf Term GOA',NULL,9720,NULL,'GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IDA',NULL,NULL,NULL,NULL,NULL),(137812,'Experimental MF/BP Leaf Term GOA',NULL,9731,NULL,'GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(137813,'Experimental MF/BP Leaf Term GOA',NULL,9736,NULL,'GO:0060041|P:retina development in camera-type eye|IMP',NULL,NULL,NULL,NULL,NULL),(137814,'Experimental MF/BP Leaf Term GOA',NULL,9738,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0048487|F:beta-tubulin binding|IDA; GO:0070740|F:tubulin-glutamic acid ligase activity|IDA; GO:0018095|P:protein polyglutamylation|IDA',NULL,NULL,NULL,NULL,NULL),(137815,'Experimental MF/BP Leaf Term GOA',NULL,9786,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0007205|P:protein kinase C-activating G protein-coupled receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137816,'Experimental MF/BP Leaf Term GOA',NULL,9787,NULL,'GO:0005524|F:ATP binding|IDA; GO:0055131|F:C3HC4-type RING finger domain binding|IPI; GO:0000287|F:magnesium ion binding|IDA; GO:0043422|F:protein kinase B binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071456|P:cellular response to hypoxia|IMP; GO:0072656|P:maintenance of protein location in mitochondrion|IMP; GO:0099074|P:mitochondrion to lysosome transport|IMP; GO:1902902|P:negative regulation of autophagosome assembly|IMP; GO:1903384|P:negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway|IDA; GO:0090258|P:negative regulation of mitochondrial fission|IMP; GO:1903852|P:positive regulation of cristae formation|IMP; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(137817,'Experimental MF/BP Leaf Term GOA',NULL,9790,NULL,'GO:0034584|F:piRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(137818,'Experimental MF/BP Leaf Term GOA',NULL,9791,NULL,'GO:1901612|F:cardiolipin binding|IDA; GO:0070300|F:phosphatidic acid binding|IDA; GO:0001786|F:phosphatidylserine binding|IDA; GO:0061158|P:3\'-UTR-mediated mRNA destabilization|IDA',NULL,NULL,NULL,NULL,NULL),(137819,'Experimental MF/BP Leaf Term GOA',NULL,9796,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(137820,'Experimental MF/BP Leaf Term GOA',NULL,9799,NULL,'GO:0070577|F:lysine-acetylated histone binding|IDA',NULL,NULL,NULL,NULL,NULL),(137821,'Experimental MF/BP Leaf Term GOA',NULL,9802,NULL,'GO:0050429|F:calcium-dependent phospholipase C activity|IDA',NULL,NULL,NULL,NULL,NULL),(137822,'Experimental MF/BP Leaf Term GOA',NULL,9803,NULL,'GO:0007099|P:centriole replication|IMP',NULL,NULL,NULL,NULL,NULL),(137823,'Experimental MF/BP Leaf Term GOA',NULL,9806,NULL,'GO:0032049|P:cardiolipin biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(137824,'Experimental MF/BP Leaf Term GOA',NULL,9807,NULL,'GO:0004435|F:phosphatidylinositol phospholipase C activity|IDA',NULL,NULL,NULL,NULL,NULL),(137825,'Experimental MF/BP Leaf Term GOA',NULL,9812,NULL,'GO:0051382|P:kinetochore assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137826,'Experimental MF/BP Leaf Term GOA',NULL,9815,NULL,'GO:0042276|P:error-prone translesion synthesis|IDA; GO:0006297|P:nucleotide-excision repair, DNA gap filling|IMP',NULL,NULL,NULL,NULL,NULL),(137827,'Experimental MF/BP Leaf Term GOA',NULL,9818,NULL,'GO:0051722|F:protein C-terminal methylesterase activity|IDA; GO:0051721|F:protein phosphatase 2A binding|IDA',NULL,NULL,NULL,NULL,NULL),(137828,'Experimental MF/BP Leaf Term GOA',NULL,9831,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(137829,'Experimental MF/BP Leaf Term GOA',NULL,9834,NULL,'GO:0008973|F:phosphopentomutase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137830,'Experimental MF/BP Leaf Term GOA',NULL,9835,NULL,'GO:0005524|F:ATP binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0043024|F:ribosomal small subunit binding|IPI; GO:0060045|P:positive regulation of cardiac muscle cell proliferation|IDA; GO:1905062|P:positive regulation of cardioblast proliferation|IDA; GO:0070561|P:vitamin D receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(137831,'Experimental MF/BP Leaf Term GOA',NULL,9838,NULL,'GO:0001792|F:polymeric immunoglobulin receptor activity|IDA; GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA; GO:0002415|P:immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor|IDA',NULL,NULL,NULL,NULL,NULL),(137832,'Experimental MF/BP Leaf Term GOA',NULL,9841,NULL,'GO:0062072|F:H3K9me3 modified histone binding|IDA; GO:0070577|F:lysine-acetylated histone binding|IDA; GO:1905454|P:negative regulation of myeloid progenitor cell differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(137833,'Experimental MF/BP Leaf Term GOA',NULL,9843,NULL,'GO:0046875|F:ephrin receptor binding|IPI; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(137834,'Experimental MF/BP Leaf Term GOA',NULL,9844,NULL,'GO:0001890|P:placenta development|IEP',NULL,NULL,NULL,NULL,NULL),(137835,'Experimental MF/BP Leaf Term GOA',NULL,9846,NULL,'GO:0005516|F:calmodulin binding|IDA',NULL,NULL,NULL,NULL,NULL),(137836,'Experimental MF/BP Leaf Term GOA',NULL,9849,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137837,'Experimental MF/BP Leaf Term GOA',NULL,9853,NULL,'GO:0042577|F:lipid phosphatase activity|IDA; GO:0008195|F:phosphatidate phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137838,'Experimental MF/BP Leaf Term GOA',NULL,9855,NULL,'GO:0008195|F:phosphatidate phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137839,'Experimental MF/BP Leaf Term GOA',NULL,9857,NULL,'GO:0031247|P:actin rod assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137840,'Experimental MF/BP Leaf Term GOA',NULL,9858,NULL,'GO:0042609|F:CD4 receptor binding|IPI; GO:0017128|F:phospholipid scramblase activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0017124|F:SH3 domain binding|IDA; GO:2000373|P:positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity|IDA',NULL,NULL,NULL,NULL,NULL),(137841,'Experimental MF/BP Leaf Term GOA',NULL,9859,NULL,'GO:0022617|P:extracellular matrix disassembly|IMP; GO:0071803|P:positive regulation of podosome assembly|IMP; GO:0010737|P:protein kinase A signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137842,'Experimental MF/BP Leaf Term GOA',NULL,9863,NULL,'GO:0017154|F:semaphorin receptor activity|IDA; GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IDA; GO:0034260|P:negative regulation of GTPase activity|IMP',NULL,NULL,NULL,NULL,NULL),(137843,'Experimental MF/BP Leaf Term GOA',NULL,9867,NULL,'GO:0004505|F:phenylalanine 4-monooxygenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137844,'Experimental MF/BP Leaf Term GOA',NULL,9876,NULL,'GO:0043274|F:phospholipase binding|IPI; GO:0090403|P:oxidative stress-induced premature senescence|IMP; GO:0090399|P:replicative senescence|IMP',NULL,NULL,NULL,NULL,NULL),(137845,'Experimental MF/BP Leaf Term GOA',NULL,9878,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137846,'Experimental MF/BP Leaf Term GOA',NULL,9879,NULL,'GO:0004435|F:phosphatidylinositol phospholipase C activity|IMP',NULL,NULL,NULL,NULL,NULL),(137847,'Experimental MF/BP Leaf Term GOA',NULL,9881,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137848,'Experimental MF/BP Leaf Term GOA',NULL,9882,NULL,'GO:0071222|P:cellular response to lipopolysaccharide|IMP',NULL,NULL,NULL,NULL,NULL),(137849,'Experimental MF/BP Leaf Term GOA',NULL,9883,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0071257|P:cellular response to electrical stimulus|IMP; GO:0043922|P:negative regulation by host of viral transcription|IDA; GO:0032348|P:negative regulation of aldosterone biosynthetic process|IMP; GO:2000798|P:negative regulation of amniotic stem cell differentiation|IMP; GO:2000065|P:negative regulation of cortisol biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(137850,'Experimental MF/BP Leaf Term GOA',NULL,9886,NULL,'GO:0050211|F:procollagen galactosyltransferase activity|IMP; GO:0033823|F:procollagen glucosyltransferase activity|IMP; GO:0008475|F:procollagen-lysine 5-dioxygenase activity|IDA; GO:0046947|P:hydroxylysine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137851,'Experimental MF/BP Leaf Term GOA',NULL,9889,NULL,'GO:0047499|F:calcium-independent phospholipase A2 activity|IDA; GO:0050482|P:arachidonic acid secretion|IDA; GO:0043651|P:linoleic acid metabolic process|IDA; GO:0034638|P:phosphatidylcholine catabolic process|IDA; GO:0046338|P:phosphatidylethanolamine catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(137852,'Experimental MF/BP Leaf Term GOA',NULL,9894,NULL,'GO:0004516|F:nicotinate phosphoribosyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137853,'Experimental MF/BP Leaf Term GOA',NULL,9899,NULL,'GO:0033192|F:calmodulin-dependent protein phosphatase activity|IDA; GO:2000048|P:negative regulation of cell-cell adhesion mediated by cadherin|IMP; GO:0044387|P:negative regulation of protein kinase activity by regulation of protein phosphorylation|IDA; GO:0070262|P:peptidyl-serine dephosphorylation|IMP; GO:0035970|P:peptidyl-threonine dephosphorylation|IDA; GO:0051894|P:positive regulation of focal adhesion assembly|IMP; GO:0051496|P:positive regulation of stress fiber assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137854,'Experimental MF/BP Leaf Term GOA',NULL,9906,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(137855,'Experimental MF/BP Leaf Term GOA',NULL,9907,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(137856,'Experimental MF/BP Leaf Term GOA',NULL,9908,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137857,'Experimental MF/BP Leaf Term GOA',NULL,9913,NULL,'GO:0010844|F:recombination hotspot binding|IMP; GO:0006311|P:meiotic gene conversion|IDA; GO:0016584|P:nucleosome positioning|IMP',NULL,NULL,NULL,NULL,NULL),(137858,'Experimental MF/BP Leaf Term GOA',NULL,9915,NULL,'GO:0001694|P:histamine biosynthetic process|IDA; GO:0045416|P:positive regulation of interleukin-8 biosynthetic process|IDA; GO:0042554|P:superoxide anion generation|IDA',NULL,NULL,NULL,NULL,NULL),(137859,'Experimental MF/BP Leaf Term GOA',NULL,9916,NULL,'GO:0003896|F:DNA primase activity|IDA; GO:0003887|F:DNA-directed DNA polymerase activity|IDA; GO:0006264|P:mitochondrial DNA replication|IMP',NULL,NULL,NULL,NULL,NULL),(137860,'Experimental MF/BP Leaf Term GOA',NULL,9919,NULL,'GO:0007283|P:spermatogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(137861,'Experimental MF/BP Leaf Term GOA',NULL,9922,NULL,'GO:0003691|F:double-stranded telomeric DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(137862,'Experimental MF/BP Leaf Term GOA',NULL,9923,NULL,'GO:0060394|P:negative regulation of pathway-restricted SMAD protein phosphorylation|IMP; GO:0060392|P:negative regulation of SMAD protein signal transduction|IGI',NULL,NULL,NULL,NULL,NULL),(137863,'Experimental MF/BP Leaf Term GOA',NULL,9931,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0036353|P:histone H2A-K119 monoubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(137864,'Experimental MF/BP Leaf Term GOA',NULL,9938,NULL,'GO:0030553|F:cGMP binding|IDA; GO:0004118|F:cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137865,'Experimental MF/BP Leaf Term GOA',NULL,9942,NULL,'GO:0034205|P:amyloid-beta formation|IMP',NULL,NULL,NULL,NULL,NULL),(137866,'Experimental MF/BP Leaf Term GOA',NULL,9958,NULL,'GO:0050682|F:AF-2 domain binding|IPI; GO:0030331|F:estrogen receptor binding|IDA; GO:0030520|P:intracellular estrogen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137867,'Experimental MF/BP Leaf Term GOA',NULL,9959,NULL,'GO:0010917|P:negative regulation of mitochondrial membrane potential|IDA; GO:0090201|P:negative regulation of release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(137868,'Experimental MF/BP Leaf Term GOA',NULL,9960,NULL,'GO:0007171|P:activation of transmembrane receptor protein tyrosine kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137869,'Experimental MF/BP Leaf Term GOA',NULL,9962,NULL,'GO:0033864|P:positive regulation of NAD(P)H oxidase activity|IMP',NULL,NULL,NULL,NULL,NULL),(137870,'Experimental MF/BP Leaf Term GOA',NULL,9965,NULL,'GO:0004064|F:arylesterase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(137871,'Experimental MF/BP Leaf Term GOA',NULL,9966,NULL,'GO:0000171|F:ribonuclease MRP activity|IDA; GO:0004526|F:ribonuclease P activity|IDA; GO:0001682|P:tRNA 5\'-leader removal|IDA',NULL,NULL,NULL,NULL,NULL),(137872,'Experimental MF/BP Leaf Term GOA',NULL,9968,NULL,'GO:0016018|F:cyclosporin A binding|IDA; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA; GO:0044829|P:positive regulation by host of viral genome replication|IMP; GO:0040018|P:positive regulation of multicellular organism growth|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(137873,'Experimental MF/BP Leaf Term GOA',NULL,9969,NULL,'GO:0016018|F:cyclosporin A binding|IDA; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137874,'Experimental MF/BP Leaf Term GOA',NULL,9970,NULL,'GO:0016018|F:cyclosporin A binding|IDA; GO:0051879|F:Hsp90 protein binding|IDA; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA; GO:0071492|P:cellular response to UV-A|IMP',NULL,NULL,NULL,NULL,NULL),(137875,'Experimental MF/BP Leaf Term GOA',NULL,9973,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0030520|P:intracellular estrogen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137876,'Experimental MF/BP Leaf Term GOA',NULL,9980,NULL,'GO:0051117|F:ATPase binding|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137877,'Experimental MF/BP Leaf Term GOA',NULL,9991,NULL,'GO:0070412|F:R-SMAD binding|IPI; GO:0050699|F:WW domain binding|IPI; GO:0060394|P:negative regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0010991|P:negative regulation of SMAD protein complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137878,'Experimental MF/BP Leaf Term GOA',NULL,9992,NULL,'GO:0047223|F:beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|IDA; GO:0030145|F:manganese ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137879,'Experimental MF/BP Leaf Term GOA',NULL,9994,NULL,'GO:0097363|F:protein O-GlcNAc transferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137880,'Experimental MF/BP Leaf Term GOA',NULL,9997,NULL,'GO:0050897|F:cobalt ion binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IMP; GO:0032938|P:negative regulation of translation in response to oxidative stress|IDA; GO:0030578|P:PML body organization|IDA; GO:0060058|P:positive regulation of apoptotic process involved in mammary gland involution|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IMP; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(137881,'Experimental MF/BP Leaf Term GOA',NULL,9998,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(137882,'Experimental MF/BP Leaf Term GOA',NULL,9999,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137883,'Experimental MF/BP Leaf Term GOA',NULL,10003,NULL,'GO:0004745|F:retinol dehydrogenase activity|IDA; GO:0043616|P:keratinocyte proliferation|IMP; GO:0042574|P:retinal metabolic process|IDA; GO:0042572|P:retinol metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(137884,'Experimental MF/BP Leaf Term GOA',NULL,10006,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(137885,'Experimental MF/BP Leaf Term GOA',NULL,10008,NULL,'GO:0032050|F:clathrin heavy chain binding|IDA; GO:0050750|F:low-density lipoprotein particle receptor binding|IPI; GO:0048156|F:tau protein binding|IPI; GO:0098711|P:iron ion import across plasma membrane|IMP; GO:2000009|P:negative regulation of protein localization to cell surface|IMP; GO:1902004|P:positive regulation of amyloid-beta formation|IMP; GO:0097494|P:regulation of vesicle size|IMP',NULL,NULL,NULL,NULL,NULL),(137886,'Experimental MF/BP Leaf Term GOA',NULL,10010,NULL,'GO:0016309|F:1-phosphatidylinositol-5-phosphate 4-kinase activity|EXP; GO:2000786|P:positive regulation of autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137887,'Experimental MF/BP Leaf Term GOA',NULL,10012,NULL,'GO:0070300|F:phosphatidic acid binding|IDA; GO:0031210|F:phosphatidylcholine binding|IDA',NULL,NULL,NULL,NULL,NULL),(137888,'Experimental MF/BP Leaf Term GOA',NULL,10013,NULL,'GO:0003681|F:bent DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(137889,'Experimental MF/BP Leaf Term GOA',NULL,10014,NULL,'GO:0001085|F:RNA polymerase II transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(137890,'Experimental MF/BP Leaf Term GOA',NULL,10018,NULL,'GO:0050915|P:sensory perception of sour taste|IMP',NULL,NULL,NULL,NULL,NULL),(137891,'Experimental MF/BP Leaf Term GOA',NULL,10020,NULL,'GO:0001968|F:fibronectin binding|IMP; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(137892,'Experimental MF/BP Leaf Term GOA',NULL,10021,NULL,'GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(137893,'Experimental MF/BP Leaf Term GOA',NULL,10024,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0042813|F:Wnt-activated receptor activity|IDA; GO:0198738|P:cell-cell signaling by wnt|IDA; GO:0072177|P:mesonephric duct development|IEP; GO:0072218|P:metanephric ascending thin limb development|IEP; GO:0072205|P:metanephric collecting duct development|IEP; GO:0072287|P:metanephric distal tubule morphogenesis|IEP; GO:0072237|P:metanephric proximal tubule development|IEP; GO:0021915|P:neural tube development|IEP; GO:0051290|P:protein heterotetramerization|IDA; GO:0043588|P:skin development|IEP; GO:0021510|P:spinal cord development|IEP',NULL,NULL,NULL,NULL,NULL),(137894,'Experimental MF/BP Leaf Term GOA',NULL,10025,NULL,'GO:0032794|F:GTPase activating protein binding|IPI; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(137895,'Experimental MF/BP Leaf Term GOA',NULL,10026,NULL,'GO:1904768|F:all-trans-retinol binding|IDA',NULL,NULL,NULL,NULL,NULL),(137896,'Experimental MF/BP Leaf Term GOA',NULL,10027,NULL,'GO:0002039|F:p53 binding|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IMP; GO:0090166|P:Golgi disassembly|IDA; GO:1904716|P:positive regulation of chaperone-mediated autophagy|IDA; GO:2000777|P:positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia|IDA',NULL,NULL,NULL,NULL,NULL),(137897,'Experimental MF/BP Leaf Term GOA',NULL,10028,NULL,'GO:0042577|F:lipid phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137898,'Experimental MF/BP Leaf Term GOA',NULL,10029,NULL,'GO:0004622|F:lysophospholipase activity|EXP',NULL,NULL,NULL,NULL,NULL),(137899,'Experimental MF/BP Leaf Term GOA',NULL,10032,NULL,'GO:0004615|F:phosphomannomutase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137900,'Experimental MF/BP Leaf Term GOA',NULL,10033,NULL,'GO:0005524|F:ATP binding|IDA; GO:0004631|F:phosphomevalonate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137901,'Experimental MF/BP Leaf Term GOA',NULL,10034,NULL,'GO:0017154|F:semaphorin receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137902,'Experimental MF/BP Leaf Term GOA',NULL,10035,NULL,'GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IDA',NULL,NULL,NULL,NULL,NULL),(137903,'Experimental MF/BP Leaf Term GOA',NULL,10037,NULL,'GO:0046404|F:ATP-dependent polydeoxyribonucleotide 5\'-hydroxyl-kinase activity|IDA; GO:0046403|F:polynucleotide 3\'-phosphatase activity|IDA; GO:0010836|P:negative regulation of protein ADP-ribosylation|IMP; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(137904,'Experimental MF/BP Leaf Term GOA',NULL,10038,NULL,'GO:0016018|F:cyclosporin A binding|IDA; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA; GO:0070301|P:cellular response to hydrogen peroxide|IMP; GO:0090201|P:negative regulation of release of cytochrome c from mitochondria|IDA; GO:1902445|P:regulation of mitochondrial membrane permeability involved in programmed necrotic cell death|IMP',NULL,NULL,NULL,NULL,NULL),(137905,'Experimental MF/BP Leaf Term GOA',NULL,10039,NULL,'GO:0016018|F:cyclosporin A binding|IDA; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137906,'Experimental MF/BP Leaf Term GOA',NULL,10041,NULL,'GO:0035539|F:8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|IDA; GO:0008413|F:8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|IDA; GO:0006203|P:dGTP catabolic process|IDA; GO:0042262|P:DNA protection|IMP',NULL,NULL,NULL,NULL,NULL),(137907,'Experimental MF/BP Leaf Term GOA',NULL,10045,NULL,'GO:0008143|F:poly(A) binding|IDA; GO:0008266|F:poly(U) RNA binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:2000623|P:negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|IDA',NULL,NULL,NULL,NULL,NULL),(137908,'Experimental MF/BP Leaf Term GOA',NULL,10049,NULL,'GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IMP; GO:0070403|F:NAD+ binding|IMP; GO:0070212|P:protein poly-ADP-ribosylation|IMP',NULL,NULL,NULL,NULL,NULL),(137909,'Experimental MF/BP Leaf Term GOA',NULL,10061,NULL,'GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(137910,'Experimental MF/BP Leaf Term GOA',NULL,10067,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0032794|F:GTPase activating protein binding|IPI; GO:0031434|F:mitogen-activated protein kinase kinase binding|IPI; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA; GO:0050816|F:phosphothreonine residue binding|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(137911,'Experimental MF/BP Leaf Term GOA',NULL,10069,NULL,'GO:0008127|F:quercetin 2,3-dioxygenase activity|IDA; GO:0030224|P:monocyte differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(137912,'Experimental MF/BP Leaf Term GOA',NULL,10071,NULL,'GO:0031210|F:phosphatidylcholine binding|IDA',NULL,NULL,NULL,NULL,NULL),(137913,'Experimental MF/BP Leaf Term GOA',NULL,10073,NULL,'GO:0019864|F:IgG binding|IDA; GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(137914,'Experimental MF/BP Leaf Term GOA',NULL,10074,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0035993|P:deltoid tuberosity development|IMP; GO:0061072|P:iris morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(137915,'Experimental MF/BP Leaf Term GOA',NULL,10075,NULL,'GO:0017089|F:glycolipid transporter activity|IDA; GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0035621|P:ER to Golgi ceramide transport|IDA',NULL,NULL,NULL,NULL,NULL),(137916,'Experimental MF/BP Leaf Term GOA',NULL,10076,NULL,'GO:1903527|P:positive regulation of membrane tubulation|IDA',NULL,NULL,NULL,NULL,NULL),(137917,'Experimental MF/BP Leaf Term GOA',NULL,10077,NULL,'GO:0034236|F:protein kinase A catalytic subunit binding|IMP; GO:0034237|F:protein kinase A regulatory subunit binding|IMP; GO:1900745|P:positive regulation of p38MAPK cascade|IMP; GO:0034137|P:positive regulation of toll-like receptor 2 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(137918,'Experimental MF/BP Leaf Term GOA',NULL,10082,NULL,'GO:0050681|F:androgen receptor binding|IDA; GO:0017049|F:GTP-Rho binding|IDA; GO:0042826|F:histone deacetylase binding|IDA; GO:0035402|F:histone kinase activity (H3-T11 specific)|IDA; GO:0005080|F:protein kinase C binding|IPI; GO:0035407|P:histone H3-T11 phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(137919,'Experimental MF/BP Leaf Term GOA',NULL,10084,NULL,'GO:0030165|F:PDZ domain binding|IPI; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0051898|P:negative regulation of protein kinase B signaling|IMP; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IDA',NULL,NULL,NULL,NULL,NULL),(137920,'Experimental MF/BP Leaf Term GOA',NULL,10085,NULL,'GO:0005521|F:lamin binding|IDA',NULL,NULL,NULL,NULL,NULL),(137921,'Experimental MF/BP Leaf Term GOA',NULL,10086,NULL,'GO:0003841|F:1-acylglycerol-3-phosphate O-acyltransferase activity|IGI; GO:0006654|P:phosphatidic acid biosynthetic process|IGI',NULL,NULL,NULL,NULL,NULL),(137922,'Experimental MF/BP Leaf Term GOA',NULL,10091,NULL,'GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0005080|F:protein kinase C binding|IDA; GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0007229|P:integrin-mediated signaling pathway|IDA; GO:0030845|P:phospholipase C-inhibiting G protein-coupled receptor signaling pathway|IDA; GO:0002576|P:platelet degranulation|IEP; GO:0010925|P:positive regulation of inositol-polyphosphate 5-phosphatase activity|IDA; GO:0060305|P:regulation of cell diameter|IDA; GO:0070493|P:thrombin-activated receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137923,'Experimental MF/BP Leaf Term GOA',NULL,10092,NULL,'GO:0008475|F:procollagen-lysine 5-dioxygenase activity|IDA; GO:0046947|P:hydroxylysine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137924,'Experimental MF/BP Leaf Term GOA',NULL,10098,NULL,'GO:0070830|P:bicellular tight junction assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137925,'Experimental MF/BP Leaf Term GOA',NULL,10102,NULL,'GO:0005018|F:platelet-derived growth factor alpha-receptor activity|IDA; GO:0048407|F:platelet-derived growth factor binding|IDA; GO:0005161|F:platelet-derived growth factor receptor binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0038085|F:vascular endothelial growth factor binding|IPI; GO:0070527|P:platelet aggregation|IMP; GO:0038091|P:positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137926,'Experimental MF/BP Leaf Term GOA',NULL,10107,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0042826|F:histone deacetylase binding|IPI; GO:0097110|F:scaffold protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(137927,'Experimental MF/BP Leaf Term GOA',NULL,10110,NULL,'GO:0051267|F:CP2 mannose-ethanolamine phosphotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137928,'Experimental MF/BP Leaf Term GOA',NULL,10115,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0005096|F:GTPase activator activity|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0070498|P:interleukin-1-mediated signaling pathway|IDA; GO:0035722|P:interleukin-12-mediated signaling pathway|IDA; GO:0035723|P:interleukin-15-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137929,'Experimental MF/BP Leaf Term GOA',NULL,10118,NULL,'GO:0008475|F:procollagen-lysine 5-dioxygenase activity|IDA; GO:0046947|P:hydroxylysine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(137930,'Experimental MF/BP Leaf Term GOA',NULL,10120,NULL,'GO:0043008|F:ATP-dependent protein binding|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IMP',NULL,NULL,NULL,NULL,NULL),(137931,'Experimental MF/BP Leaf Term GOA',NULL,10122,NULL,'GO:0042169|F:SH2 domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(137932,'Experimental MF/BP Leaf Term GOA',NULL,10123,NULL,'GO:0070577|F:lysine-acetylated histone binding|IDA',NULL,NULL,NULL,NULL,NULL),(137933,'Experimental MF/BP Leaf Term GOA',NULL,10129,NULL,'GO:0019855|F:calcium channel inhibitor activity|IDA; GO:0044325|F:ion channel binding|IPI; GO:0101006|F:protein histidine phosphatase activity|IDA; GO:2000984|P:negative regulation of ATP citrate synthase activity|IDA; GO:0035971|P:peptidyl-histidine dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(137934,'Experimental MF/BP Leaf Term GOA',NULL,10133,NULL,'GO:0010521|F:telomerase inhibitor activity|IDA; GO:0070034|F:telomerase RNA binding|IDA; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IDA; GO:1904751|P:positive regulation of protein localization to nucleolus|IDA; GO:1902570|P:protein localization to nucleolus|IDA; GO:0007004|P:telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(137935,'Experimental MF/BP Leaf Term GOA',NULL,10134,NULL,'GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(137936,'Experimental MF/BP Leaf Term GOA',NULL,10135,NULL,'GO:0051371|F:muscle alpha-actinin binding|IPI; GO:0051289|P:protein homotetramerization|IDA; GO:0050915|P:sensory perception of sour taste|IMP',NULL,NULL,NULL,NULL,NULL),(137937,'Experimental MF/BP Leaf Term GOA',NULL,10136,NULL,'GO:0016303|F:1-phosphatidylinositol-3-kinase activity|IDA; GO:2000811|P:negative regulation of anoikis|IMP',NULL,NULL,NULL,NULL,NULL),(137938,'Experimental MF/BP Leaf Term GOA',NULL,10138,NULL,'GO:0003841|F:1-acylglycerol-3-phosphate O-acyltransferase activity|IDA; GO:0006654|P:phosphatidic acid biosynthetic process|IGI',NULL,NULL,NULL,NULL,NULL),(137939,'Experimental MF/BP Leaf Term GOA',NULL,10142,NULL,'GO:0051087|F:chaperone binding|IPI; GO:1904854|F:proteasome core complex binding|IPI; GO:1990405|F:protein antigen binding|IPI; GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0007596|P:blood coagulation|IMP; GO:0022617|P:extracellular matrix disassembly|IDA; GO:0042730|P:fibrinolysis|IDA; GO:0051918|P:negative regulation of fibrinolysis|IDA; GO:0051919|P:positive regulation of fibrinolysis|IDA',NULL,NULL,NULL,NULL,NULL),(137940,'Experimental MF/BP Leaf Term GOA',NULL,10146,NULL,'GO:0019992|F:diacylglycerol binding|IDA; GO:0070300|F:phosphatidic acid binding|IDA; GO:1990050|F:phosphatidic acid transporter activity|IDA; GO:0031210|F:phosphatidylcholine binding|IDA; GO:0008429|F:phosphatidylethanolamine binding|IDA; GO:0010875|P:positive regulation of cholesterol efflux|IDA',NULL,NULL,NULL,NULL,NULL),(137941,'Experimental MF/BP Leaf Term GOA',NULL,10147,NULL,'GO:0043149|P:stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137942,'Experimental MF/BP Leaf Term GOA',NULL,10148,NULL,'GO:0042834|F:peptidoglycan binding|IDA; GO:0016019|F:peptidoglycan receptor activity|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(137943,'Experimental MF/BP Leaf Term GOA',NULL,10150,NULL,'GO:0051898|P:negative regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(137944,'Experimental MF/BP Leaf Term GOA',NULL,10153,NULL,'GO:0016309|F:1-phosphatidylinositol-5-phosphate 4-kinase activity|EXP; GO:2000786|P:positive regulation of autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137945,'Experimental MF/BP Leaf Term GOA',NULL,10154,NULL,'GO:0000082|P:G1/S transition of mitotic cell cycle|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(137946,'Experimental MF/BP Leaf Term GOA',NULL,10157,NULL,'GO:0043398|F:HLH domain binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0001658|P:branching involved in ureteric bud morphogenesis|IEP; GO:0198738|P:cell-cell signaling by wnt|IDA; GO:0071320|P:cellular response to cAMP|IMP; GO:0071464|P:cellular response to hydrostatic pressure|IDA; GO:0071910|P:determination of liver left/right asymmetry|IMP; GO:0001947|P:heart looping|IMP; GO:0072177|P:mesonephric duct development|IEP; GO:0072218|P:metanephric ascending thin limb development|IEP; GO:0072214|P:metanephric cortex development|IEP; GO:0072219|P:metanephric cortical collecting duct development|IEP; GO:0072235|P:metanephric distal tubule development|IEP; GO:0035502|P:metanephric part of ureteric bud development|IEP; GO:0072284|P:metanephric S-shaped body morphogenesis|IEP; GO:0072208|P:metanephric smooth muscle tissue development|IEP; GO:0021915|P:neural tube development|IEP; GO:0031587|P:positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|IMP; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IMP; GO:0051290|P:protein heterotetramerization|IDA; GO:0051289|P:protein homotetramerization|IDA; GO:0061441|P:renal artery morphogenesis|IEP; GO:0021510|P:spinal cord development|IEP',NULL,NULL,NULL,NULL,NULL),(137947,'Experimental MF/BP Leaf Term GOA',NULL,10159,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0010314|F:phosphatidylinositol-5-phosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(137948,'Experimental MF/BP Leaf Term GOA',NULL,10160,NULL,'GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(137949,'Experimental MF/BP Leaf Term GOA',NULL,10162,NULL,'GO:0014065|P:phosphatidylinositol 3-kinase signaling|IMP; GO:0033031|P:positive regulation of neutrophil apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(137950,'Experimental MF/BP Leaf Term GOA',NULL,10164,NULL,'GO:0014065|P:phosphatidylinositol 3-kinase signaling|IMP; GO:0033031|P:positive regulation of neutrophil apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(137951,'Experimental MF/BP Leaf Term GOA',NULL,10165,NULL,'GO:0035755|F:cardiolipin hydrolase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0010636|P:positive regulation of mitochondrial fusion|IDA',NULL,NULL,NULL,NULL,NULL),(137952,'Experimental MF/BP Leaf Term GOA',NULL,10167,NULL,'GO:0010997|F:anaphase-promoting complex binding|IPI; GO:0005524|F:ATP binding|IMP; GO:0000287|F:magnesium ion binding|IMP; GO:0007098|P:centrosome cycle|IMP; GO:0000086|P:G2/M transition of mitotic cell cycle|IDA; GO:0000070|P:mitotic sister chromatid segregation|IMP; GO:0007094|P:mitotic spindle assembly checkpoint|IMP; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IMP; GO:1904668|P:positive regulation of ubiquitin protein ligase activity|IDA; GO:0031648|P:protein destabilization|IDA; GO:1901673|P:regulation of mitotic spindle assembly|IDA',NULL,NULL,NULL,NULL,NULL),(137953,'Experimental MF/BP Leaf Term GOA',NULL,10169,NULL,'GO:0006094|P:gluconeogenesis|IMP; GO:0042572|P:retinol metabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(137954,'Experimental MF/BP Leaf Term GOA',NULL,10171,NULL,'GO:0010891|P:negative regulation of sequestering of triglyceride|IDA; GO:0010898|P:positive regulation of triglyceride catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(137955,'Experimental MF/BP Leaf Term GOA',NULL,10172,NULL,'GO:0003841|F:1-acylglycerol-3-phosphate O-acyltransferase activity|IDA; GO:0051265|F:diolein transacylation activity|IDA; GO:0036042|F:long-chain fatty acyl-CoA binding|IDA; GO:0035727|F:lysophosphatidic acid binding|IDA; GO:0051264|F:mono-olein transacylation activity|IDA; GO:0006654|P:phosphatidic acid biosynthetic process|IDA; GO:0036153|P:triglyceride acyl-chain remodeling|IDA; GO:0019432|P:triglyceride biosynthetic process|IDA; GO:0019433|P:triglyceride catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(137956,'Experimental MF/BP Leaf Term GOA',NULL,10173,NULL,'GO:0050253|F:retinyl-palmitate esterase activity|EXP',NULL,NULL,NULL,NULL,NULL),(137957,'Experimental MF/BP Leaf Term GOA',NULL,10175,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(137958,'Experimental MF/BP Leaf Term GOA',NULL,10181,NULL,'GO:1904261|P:positive regulation of basement membrane assembly involved in embryonic body morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(137959,'Experimental MF/BP Leaf Term GOA',NULL,10188,NULL,'GO:0006977|P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|IMP; GO:0016540|P:protein autoprocessing|IDA',NULL,NULL,NULL,NULL,NULL),(137960,'Experimental MF/BP Leaf Term GOA',NULL,10189,NULL,'GO:0016308|F:1-phosphatidylinositol-4-phosphate 5-kinase activity|IDA; GO:0016309|F:1-phosphatidylinositol-5-phosphate 4-kinase activity|EXP; GO:0042803|F:protein homodimerization activity|IDA; GO:2000786|P:positive regulation of autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137961,'Experimental MF/BP Leaf Term GOA',NULL,10193,NULL,'GO:0003872|F:6-phosphofructokinase activity|EXP',NULL,NULL,NULL,NULL,NULL),(137962,'Experimental MF/BP Leaf Term GOA',NULL,10195,NULL,'GO:0003872|F:6-phosphofructokinase activity|IDA; GO:0005524|F:ATP binding|IDA; GO:0070061|F:fructose binding|IDA; GO:0070095|F:fructose-6-phosphate binding|IDA; GO:0030388|P:fructose 1,6-bisphosphate metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(137963,'Experimental MF/BP Leaf Term GOA',NULL,10196,NULL,'GO:0004618|F:phosphoglycerate kinase activity|IMP; GO:0047134|F:protein-disulfide reductase activity|IMP; GO:0071456|P:cellular response to hypoxia|IDA',NULL,NULL,NULL,NULL,NULL),(137964,'Experimental MF/BP Leaf Term GOA',NULL,10197,NULL,'GO:0006370|P:7-methylguanosine mRNA capping|IDA; GO:0036031|P:recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex|IDA',NULL,NULL,NULL,NULL,NULL),(137965,'Experimental MF/BP Leaf Term GOA',NULL,10198,NULL,'GO:1990409|F:adrenomedullin binding|IPI; GO:0001605|F:adrenomedullin receptor activity|IPI; GO:1990410|P:adrenomedullin receptor signaling pathway|IPI; GO:0070830|P:bicellular tight junction assembly|IDA; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IDA; GO:0043116|P:negative regulation of vascular permeability|IDA',NULL,NULL,NULL,NULL,NULL),(137966,'Experimental MF/BP Leaf Term GOA',NULL,10200,NULL,'GO:0008745|F:N-acetylmuramoyl-L-alanine amidase activity|EXP; GO:0042834|F:peptidoglycan binding|IDA; GO:0016019|F:peptidoglycan receptor activity|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(137967,'Experimental MF/BP Leaf Term GOA',NULL,10201,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0031536|P:positive regulation of exit from mitosis|IMP; GO:0000060|P:protein import into nucleus, translocation|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(137968,'Experimental MF/BP Leaf Term GOA',NULL,10202,NULL,'GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(137969,'Experimental MF/BP Leaf Term GOA',NULL,10203,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0003360|P:brainstem development|IEP; GO:0048484|P:enteric nervous system development|IEP',NULL,NULL,NULL,NULL,NULL),(137970,'Experimental MF/BP Leaf Term GOA',NULL,10204,NULL,'GO:0060766|P:negative regulation of androgen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(137971,'Experimental MF/BP Leaf Term GOA',NULL,10207,NULL,'GO:0016255|P:attachment of GPI anchor to protein|IMP',NULL,NULL,NULL,NULL,NULL),(137972,'Experimental MF/BP Leaf Term GOA',NULL,10209,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IMP; GO:0072672|P:neutrophil extravasation|IMP',NULL,NULL,NULL,NULL,NULL),(137973,'Experimental MF/BP Leaf Term GOA',NULL,10213,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0035024|P:negative regulation of Rho protein signal transduction|IMP; GO:2000299|P:negative regulation of Rho-dependent protein serine/threonine kinase activity|IMP',NULL,NULL,NULL,NULL,NULL),(137974,'Experimental MF/BP Leaf Term GOA',NULL,10215,NULL,'GO:0097643|F:amylin receptor activity|IPI; GO:1990407|F:calcitonin gene-related peptide binding|IPI; GO:0001635|F:calcitonin gene-related peptide receptor activity|IPI; GO:1990408|P:calcitonin gene-related peptide receptor signaling pathway|IPI',NULL,NULL,NULL,NULL,NULL),(137975,'Experimental MF/BP Leaf Term GOA',NULL,10217,NULL,'GO:0042834|F:peptidoglycan binding|IDA; GO:0016019|F:peptidoglycan receptor activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(137976,'Experimental MF/BP Leaf Term GOA',NULL,10219,NULL,'GO:0071558|F:histone demethylase activity (H3-K27 specific)|IDA; GO:0051864|F:histone demethylase activity (H3-K36 specific)|IDA; GO:0032454|F:histone demethylase activity (H3-K9 specific)|IDA; GO:0035575|F:histone demethylase activity (H4-K20 specific)|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IMP; GO:0071557|P:histone H3-K27 demethylation|IDA; GO:0070544|P:histone H3-K36 demethylation|IDA; GO:0033169|P:histone H3-K9 demethylation|IDA; GO:0035574|P:histone H4-K20 demethylation|IDA; GO:0061188|P:negative regulation of chromatin silencing at rDNA|IDA',NULL,NULL,NULL,NULL,NULL),(137977,'Experimental MF/BP Leaf Term GOA',NULL,10220,NULL,'GO:0043984|P:histone H4-K16 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(137978,'Experimental MF/BP Leaf Term GOA',NULL,10221,NULL,'GO:1902902|P:negative regulation of autophagosome assembly|IMP; GO:1901097|P:negative regulation of autophagosome maturation|IMP',NULL,NULL,NULL,NULL,NULL),(137979,'Experimental MF/BP Leaf Term GOA',NULL,10222,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0001164|F:RNA polymerase I CORE element sequence-specific DNA binding|IMP; GO:0000492|P:box C/D snoRNP assembly|IMP; GO:2001268|P:negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway|IMP; GO:1900110|P:negative regulation of histone H3-K9 dimethylation|IMP; GO:1900113|P:negative regulation of histone H3-K9 trimethylation|IMP; GO:2000619|P:negative regulation of histone H4-K16 acetylation|IMP; GO:1902661|P:positive regulation of glucose mediated signaling pathway|IMP; GO:2000617|P:positive regulation of histone H3-K9 acetylation|IMP; GO:1904263|P:positive regulation of TORC1 signaling|IMP; GO:1901838|P:positive regulation of transcription of nucleolar large rRNA by RNA polymerase I|IMP; GO:0048254|P:snoRNA localization|IMP',NULL,NULL,NULL,NULL,NULL),(137980,'Experimental MF/BP Leaf Term GOA',NULL,10223,NULL,'GO:0030317|P:flagellated sperm motility|IMP',NULL,NULL,NULL,NULL,NULL),(137981,'Experimental MF/BP Leaf Term GOA',NULL,10225,NULL,'GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(137982,'Experimental MF/BP Leaf Term GOA',NULL,10226,NULL,'GO:0003872|F:6-phosphofructokinase activity|IDA; GO:0005524|F:ATP binding|IDA; GO:0070061|F:fructose binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0046716|P:muscle cell cellular homeostasis|IMP',NULL,NULL,NULL,NULL,NULL),(137983,'Experimental MF/BP Leaf Term GOA',NULL,10232,NULL,'GO:0051895|P:negative regulation of focal adhesion assembly|IMP; GO:0051497|P:negative regulation of stress fiber assembly|IMP; GO:1903690|P:negative regulation of wound healing, spreading of epidermal cells|IMP; GO:1904261|P:positive regulation of basement membrane assembly involved in embryonic body morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(137984,'Experimental MF/BP Leaf Term GOA',NULL,10244,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(137985,'Experimental MF/BP Leaf Term GOA',NULL,10246,NULL,'GO:0051683|P:establishment of Golgi localization|IDA; GO:0051684|P:maintenance of Golgi location|IMP',NULL,NULL,NULL,NULL,NULL),(137986,'Experimental MF/BP Leaf Term GOA',NULL,10249,NULL,'GO:0005524|F:ATP binding|IDA',NULL,NULL,NULL,NULL,NULL),(137987,'Experimental MF/BP Leaf Term GOA',NULL,10252,NULL,'GO:0021987|P:cerebral cortex development|IDA',NULL,NULL,NULL,NULL,NULL),(137988,'Experimental MF/BP Leaf Term GOA',NULL,10253,NULL,'GO:0043274|F:phospholipase binding|IPI; GO:0007202|P:activation of phospholipase C activity|IDA; GO:0051895|P:negative regulation of focal adhesion assembly|IMP; GO:0051497|P:negative regulation of stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137989,'Experimental MF/BP Leaf Term GOA',NULL,10255,NULL,'GO:0070301|P:cellular response to hydrogen peroxide|IDA',NULL,NULL,NULL,NULL,NULL),(137990,'Experimental MF/BP Leaf Term GOA',NULL,10256,NULL,'GO:0001965|F:G-protein alpha-subunit binding|IDA',NULL,NULL,NULL,NULL,NULL),(137991,'Experimental MF/BP Leaf Term GOA',NULL,10257,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(137992,'Experimental MF/BP Leaf Term GOA',NULL,10261,NULL,'GO:0071889|F:14-3-3 protein binding|IDA; GO:1990869|P:cellular response to chemokine|IDA; GO:1903904|P:negative regulation of establishment of T cell polarity|IMP; GO:2001107|P:negative regulation of Rho guanyl-nucleotide exchange factor activity|IMP; GO:0035024|P:negative regulation of Rho protein signal transduction|IMP; GO:0051491|P:positive regulation of filopodium assembly|IMP; GO:1901741|P:positive regulation of myoblast fusion|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(137993,'Experimental MF/BP Leaf Term GOA',NULL,10264,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(137994,'Experimental MF/BP Leaf Term GOA',NULL,10266,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0090630|P:activation of GTPase activity|IDA',NULL,NULL,NULL,NULL,NULL),(137995,'Experimental MF/BP Leaf Term GOA',NULL,10267,NULL,'GO:0005128|F:erythropoietin receptor binding|IDA; GO:0036018|P:cellular response to erythropoietin|IMP; GO:0038162|P:erythropoietin-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(137996,'Experimental MF/BP Leaf Term GOA',NULL,10269,NULL,'GO:0042169|F:SH2 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(137997,'Experimental MF/BP Leaf Term GOA',NULL,10271,NULL,'GO:0005525|F:GTP binding|IDA; GO:0031532|P:actin cytoskeleton reorganization|IMP; GO:0043297|P:apical junction assembly|IMP; GO:0038027|P:apolipoprotein A-I-mediated signaling pathway|IMP; GO:1990869|P:cellular response to chemokine|IMP; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:1903673|P:mitotic cleavage furrow formation|IMP; GO:0090307|P:mitotic spindle assembly|IMP; GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IGI; GO:0045792|P:negative regulation of cell size|IMP; GO:0051496|P:positive regulation of stress fiber assembly|IDA; GO:1905274|P:regulation of modification of postsynaptic actin cytoskeleton|EXP; GO:0043149|P:stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(137998,'Experimental MF/BP Leaf Term GOA',NULL,10272,NULL,'GO:0070318|P:positive regulation of G0 to G1 transition|IMP',NULL,NULL,NULL,NULL,NULL),(137999,'Experimental MF/BP Leaf Term GOA',NULL,10275,NULL,'GO:2000208|P:positive regulation of ribosomal small subunit export from nucleus|IMP; GO:2000234|P:positive regulation of rRNA processing|IDA; GO:0042274|P:ribosomal small subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138000,'Experimental MF/BP Leaf Term GOA',NULL,10277,NULL,'GO:2000234|P:positive regulation of rRNA processing|IMP; GO:0042274|P:ribosomal small subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138001,'Experimental MF/BP Leaf Term GOA',NULL,10278,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0046982|F:protein heterodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(138002,'Experimental MF/BP Leaf Term GOA',NULL,10280,NULL,'GO:0019003|F:GDP binding|IDA; GO:0060325|P:face morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138003,'Experimental MF/BP Leaf Term GOA',NULL,10281,NULL,'GO:0032543|P:mitochondrial translation|IDA; GO:0032790|P:ribosome disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(138004,'Experimental MF/BP Leaf Term GOA',NULL,10283,NULL,'GO:0032790|P:ribosome disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(138005,'Experimental MF/BP Leaf Term GOA',NULL,10285,NULL,'GO:0000183|P:chromatin silencing at rDNA|IDA',NULL,NULL,NULL,NULL,NULL),(138006,'Experimental MF/BP Leaf Term GOA',NULL,10286,NULL,'GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1902570|P:protein localization to nucleolus|IMP; GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138007,'Experimental MF/BP Leaf Term GOA',NULL,10288,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:2000394|P:positive regulation of lamellipodium morphogenesis|IMP; GO:0033601|P:positive regulation of mammary gland epithelial cell proliferation|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP; GO:1903691|P:positive regulation of wound healing, spreading of epidermal cells|IMP',NULL,NULL,NULL,NULL,NULL),(138008,'Experimental MF/BP Leaf Term GOA',NULL,10290,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(138009,'Experimental MF/BP Leaf Term GOA',NULL,10294,NULL,'GO:0019003|F:GDP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138010,'Experimental MF/BP Leaf Term GOA',NULL,10296,NULL,'GO:0019003|F:GDP binding|IDA; GO:0030742|F:GTP-dependent protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(138011,'Experimental MF/BP Leaf Term GOA',NULL,10297,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(138012,'Experimental MF/BP Leaf Term GOA',NULL,10300,NULL,'GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(138013,'Experimental MF/BP Leaf Term GOA',NULL,10304,NULL,'GO:0002003|P:angiotensin maturation|IDA',NULL,NULL,NULL,NULL,NULL),(138014,'Experimental MF/BP Leaf Term GOA',NULL,10305,NULL,'GO:0061158|P:3\'-UTR-mediated mRNA destabilization|IDA; GO:0071347|P:cellular response to interleukin-1|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0000294|P:nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay|IMP',NULL,NULL,NULL,NULL,NULL),(138015,'Experimental MF/BP Leaf Term GOA',NULL,10307,NULL,'GO:1900264|P:positive regulation of DNA-directed DNA polymerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138016,'Experimental MF/BP Leaf Term GOA',NULL,10310,NULL,'GO:0036122|F:BMP binding|IPI; GO:1990459|F:transferrin receptor binding|IPI; GO:0071773|P:cellular response to BMP stimulus|IMP; GO:0016540|P:protein autoprocessing|IMP',NULL,NULL,NULL,NULL,NULL),(138017,'Experimental MF/BP Leaf Term GOA',NULL,10313,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:2000643|P:positive regulation of early endosome to late endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(138018,'Experimental MF/BP Leaf Term GOA',NULL,10315,NULL,'GO:0033130|F:acetylcholine receptor binding|IDA; GO:0007271|P:synaptic transmission, cholinergic|IGI',NULL,NULL,NULL,NULL,NULL),(138019,'Experimental MF/BP Leaf Term GOA',NULL,10320,NULL,'GO:0003726|F:double-stranded RNA adenosine deaminase activity|IDA; GO:0044387|P:negative regulation of protein kinase activity by regulation of protein phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(138020,'Experimental MF/BP Leaf Term GOA',NULL,10321,NULL,'GO:0008201|F:heparin binding|IDA; GO:2001065|F:mannan binding|IDA',NULL,NULL,NULL,NULL,NULL),(138021,'Experimental MF/BP Leaf Term GOA',NULL,10328,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0031018|P:endocrine pancreas development|IMP; GO:0035774|P:positive regulation of insulin secretion involved in cellular response to glucose stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(138022,'Experimental MF/BP Leaf Term GOA',NULL,10334,NULL,'GO:0001965|F:G-protein alpha-subunit binding|IPI; GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(138023,'Experimental MF/BP Leaf Term GOA',NULL,10335,NULL,'GO:0098505|F:G-rich strand telomeric DNA binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0031571|P:mitotic G1 DNA damage checkpoint|IMP',NULL,NULL,NULL,NULL,NULL),(138024,'Experimental MF/BP Leaf Term GOA',NULL,10340,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:2001136|P:negative regulation of endocytic recycling|IMP; GO:0033572|P:transferrin transport|IMP',NULL,NULL,NULL,NULL,NULL),(138025,'Experimental MF/BP Leaf Term GOA',NULL,10341,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(138026,'Experimental MF/BP Leaf Term GOA',NULL,10344,NULL,'GO:0090630|P:activation of GTPase activity|IMP; GO:0016601|P:Rac protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(138027,'Experimental MF/BP Leaf Term GOA',NULL,10349,NULL,'GO:2001034|P:positive regulation of double-strand break repair via nonhomologous end joining|IDA',NULL,NULL,NULL,NULL,NULL),(138028,'Experimental MF/BP Leaf Term GOA',NULL,10350,NULL,'GO:0030156|F:benzodiazepine receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(138029,'Experimental MF/BP Leaf Term GOA',NULL,10351,NULL,'GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(138030,'Experimental MF/BP Leaf Term GOA',NULL,10352,NULL,'GO:0071889|F:14-3-3 protein binding|IDA; GO:1990869|P:cellular response to chemokine|IMP; GO:0051683|P:establishment of Golgi localization|IMP; GO:2001107|P:negative regulation of Rho guanyl-nucleotide exchange factor activity|IMP; GO:0035024|P:negative regulation of Rho protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(138031,'Experimental MF/BP Leaf Term GOA',NULL,10357,NULL,'GO:0033572|P:transferrin transport|IDA',NULL,NULL,NULL,NULL,NULL),(138032,'Experimental MF/BP Leaf Term GOA',NULL,10359,NULL,'GO:0050908|P:detection of light stimulus involved in visual perception|IMP',NULL,NULL,NULL,NULL,NULL),(138033,'Experimental MF/BP Leaf Term GOA',NULL,10360,NULL,'GO:0001205|F:distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(138034,'Experimental MF/BP Leaf Term GOA',NULL,10361,NULL,'GO:0002003|P:angiotensin maturation|IDA; GO:0060323|P:head morphogenesis|IMP; GO:0021903|P:rostrocaudal neural tube patterning|IMP',NULL,NULL,NULL,NULL,NULL),(138035,'Experimental MF/BP Leaf Term GOA',NULL,10363,NULL,'GO:0070164|P:negative regulation of adiponectin secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138036,'Experimental MF/BP Leaf Term GOA',NULL,10364,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(138037,'Experimental MF/BP Leaf Term GOA',NULL,10368,NULL,'GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(138038,'Experimental MF/BP Leaf Term GOA',NULL,10371,NULL,'GO:1990000|P:amyloid fibril formation|IMP; GO:0070266|P:necroptotic process|IMP; GO:0060545|P:positive regulation of necroptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(138039,'Experimental MF/BP Leaf Term GOA',NULL,10372,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA',NULL,NULL,NULL,NULL,NULL),(138040,'Experimental MF/BP Leaf Term GOA',NULL,10374,NULL,'GO:0008970|F:phospholipase A1 activity|IDA',NULL,NULL,NULL,NULL,NULL),(138041,'Experimental MF/BP Leaf Term GOA',NULL,10375,NULL,'GO:0047499|F:calcium-independent phospholipase A2 activity|IDA',NULL,NULL,NULL,NULL,NULL),(138042,'Experimental MF/BP Leaf Term GOA',NULL,10376,NULL,'GO:1905502|F:acetyl-CoA binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138043,'Experimental MF/BP Leaf Term GOA',NULL,10379,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138044,'Experimental MF/BP Leaf Term GOA',NULL,10389,NULL,'GO:0050957|P:equilibrioception|IMP; GO:0045494|P:photoreceptor cell maintenance|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(138045,'Experimental MF/BP Leaf Term GOA',NULL,10390,NULL,'GO:0005516|F:calmodulin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138046,'Experimental MF/BP Leaf Term GOA',NULL,10391,NULL,'GO:0004115|F:3\',5\'-cyclic-AMP phosphodiesterase activity|IMP; GO:0071364|P:cellular response to epidermal growth factor stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(138047,'Experimental MF/BP Leaf Term GOA',NULL,10393,NULL,'GO:0003756|F:protein disulfide isomerase activity|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0071456|P:cellular response to hypoxia|IMP; GO:0018401|P:peptidyl-proline hydroxylation to 4-hydroxy-L-proline|IDA',NULL,NULL,NULL,NULL,NULL),(138048,'Experimental MF/BP Leaf Term GOA',NULL,10395,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0048208|P:COPII vesicle coating|IMP; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0051898|P:negative regulation of protein kinase B signaling|IDA; GO:0030948|P:negative regulation of vascular endothelial growth factor receptor signaling pathway|IDA; GO:0014029|P:neural crest formation|IMP; GO:1902527|P:positive regulation of protein monoubiquitination|IMP; GO:0036324|P:vascular endothelial growth factor receptor-2 signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138049,'Experimental MF/BP Leaf Term GOA',NULL,10398,NULL,'GO:0005524|F:ATP binding|IDA; GO:0004740|F:pyruvate dehydrogenase (acetyl-transferring) kinase activity|EXP; GO:2000811|P:negative regulation of anoikis|IMP; GO:0010510|P:regulation of acetyl-CoA biosynthetic process from pyruvate|IMP',NULL,NULL,NULL,NULL,NULL),(138050,'Experimental MF/BP Leaf Term GOA',NULL,10399,NULL,'GO:0004115|F:3\',5\'-cyclic-AMP phosphodiesterase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138051,'Experimental MF/BP Leaf Term GOA',NULL,10401,NULL,'GO:0030552|F:cAMP binding|IDA; GO:0004118|F:cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138052,'Experimental MF/BP Leaf Term GOA',NULL,10402,NULL,'GO:0004115|F:3\',5\'-cyclic-AMP phosphodiesterase activity|IDA; GO:0051117|F:ATPase binding|IPI; GO:0030552|F:cAMP binding|IDA; GO:0044325|F:ion channel binding|IPI; GO:0097110|F:scaffold protein binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0006198|P:cAMP catabolic process|IDA; GO:0071320|P:cellular response to cAMP|IDA; GO:0071872|P:cellular response to epinephrine stimulus|IDA; GO:0050852|P:T cell receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138053,'Experimental MF/BP Leaf Term GOA',NULL,10404,NULL,'GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138054,'Experimental MF/BP Leaf Term GOA',NULL,10405,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0048208|P:COPII vesicle coating|IMP; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0014029|P:neural crest formation|IMP; GO:1902527|P:positive regulation of protein monoubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(138055,'Experimental MF/BP Leaf Term GOA',NULL,10406,NULL,'GO:0005525|F:GTP binding|IDA; GO:0031996|F:thioesterase binding|IPI; GO:0048012|P:hepatocyte growth factor receptor signaling pathway|IMP; GO:0051894|P:positive regulation of focal adhesion assembly|IDA; GO:0010592|P:positive regulation of lamellipodium assembly|IDA; GO:0090023|P:positive regulation of neutrophil chemotaxis|IMP; GO:0051496|P:positive regulation of stress fiber assembly|IDA; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IDA; GO:0097178|P:ruffle assembly|IMP; GO:0034446|P:substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(138056,'Experimental MF/BP Leaf Term GOA',NULL,10407,NULL,'GO:0036393|F:thiocyanate peroxidase activity|IDA; GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(138057,'Experimental MF/BP Leaf Term GOA',NULL,10408,NULL,'GO:0000466|P:maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|IMP; GO:0000463|P:maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|IMP',NULL,NULL,NULL,NULL,NULL),(138058,'Experimental MF/BP Leaf Term GOA',NULL,10409,NULL,'GO:0016560|P:protein import into peroxisome matrix, docking|IMP',NULL,NULL,NULL,NULL,NULL),(138059,'Experimental MF/BP Leaf Term GOA',NULL,10410,NULL,'GO:0036310|F:annealing helicase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138060,'Experimental MF/BP Leaf Term GOA',NULL,10411,NULL,'GO:0005524|F:ATP binding|IMP; GO:0008022|F:protein C-terminus binding|IPI; GO:0016561|P:protein import into peroxisome matrix, translocation|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(138061,'Experimental MF/BP Leaf Term GOA',NULL,10419,NULL,'GO:0044717|F:8-hydroxy-dADP phosphatase activity|IDA; GO:0044715|F:8-oxo-dGDP phosphatase activity|IDA; GO:0044716|F:8-oxo-GDP phosphatase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0046057|P:dADP catabolic process|IDA; GO:0046067|P:dGDP catabolic process|IDA; GO:0046712|P:GDP catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(138062,'Experimental MF/BP Leaf Term GOA',NULL,10427,NULL,'GO:0004668|F:protein-arginine deiminase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138063,'Experimental MF/BP Leaf Term GOA',NULL,10428,NULL,'GO:0097320|P:plasma membrane tubulation|IDA; GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IMP',NULL,NULL,NULL,NULL,NULL),(138064,'Experimental MF/BP Leaf Term GOA',NULL,10431,NULL,'GO:0034618|F:arginine binding|IMP; GO:0016990|F:arginine deiminase activity|IDA; GO:0042803|F:protein homodimerization activity|IMP; GO:0004668|F:protein-arginine deiminase activity|IDA; GO:0019546|P:arginine deiminase pathway|IMP; GO:0036413|P:histone H3-R26 citrullination|IDA',NULL,NULL,NULL,NULL,NULL),(138065,'Experimental MF/BP Leaf Term GOA',NULL,10434,NULL,'GO:0004020|F:adenylylsulfate kinase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0004781|F:sulfate adenylyltransferase (ATP) activity|IDA; GO:0050428|P:3\'-phosphoadenosine 5\'-phosphosulfate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(138066,'Experimental MF/BP Leaf Term GOA',NULL,10439,NULL,'GO:0070412|F:R-SMAD binding|IPI; GO:0061072|P:iris morphogenesis|IMP; GO:0003322|P:pancreatic A cell development|IMP; GO:1904798|P:positive regulation of core promoter binding|IDA',NULL,NULL,NULL,NULL,NULL),(138067,'Experimental MF/BP Leaf Term GOA',NULL,10443,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0038191|F:neuropilin binding|IPI; GO:0017166|F:vinculin binding|IPI; GO:0051496|P:positive regulation of stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138068,'Experimental MF/BP Leaf Term GOA',NULL,10450,NULL,'GO:0036353|P:histone H2A-K119 monoubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(138069,'Experimental MF/BP Leaf Term GOA',NULL,10454,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0061952|P:midbody abscission|IMP; GO:1903543|P:positive regulation of exosomal secretion|IMP; GO:1903553|P:positive regulation of extracellular exosome assembly|IMP; GO:0090611|P:ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway|IMP; GO:0039702|P:viral budding via host ESCRT complex|IGI',NULL,NULL,NULL,NULL,NULL),(138070,'Experimental MF/BP Leaf Term GOA',NULL,10455,NULL,'GO:0046007|P:negative regulation of activated T cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(138071,'Experimental MF/BP Leaf Term GOA',NULL,10456,NULL,'GO:0035457|P:cellular response to interferon-alpha|IMP; GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0000958|P:mitochondrial mRNA catabolic process|IMP; GO:0000288|P:nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay|IMP; GO:0044528|P:regulation of mitochondrial mRNA stability|IMP',NULL,NULL,NULL,NULL,NULL),(138072,'Experimental MF/BP Leaf Term GOA',NULL,10457,NULL,'GO:1902035|P:positive regulation of hematopoietic stem cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(138073,'Experimental MF/BP Leaf Term GOA',NULL,10458,NULL,'GO:0016973|P:poly(A)+ mRNA export from nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(138074,'Experimental MF/BP Leaf Term GOA',NULL,10459,NULL,'GO:0046069|P:cGMP catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(138075,'Experimental MF/BP Leaf Term GOA',NULL,10461,NULL,'GO:0071321|P:cellular response to cGMP|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IEP; GO:0043116|P:negative regulation of vascular permeability|IMP; GO:0043117|P:positive regulation of vascular permeability|IMP',NULL,NULL,NULL,NULL,NULL),(138076,'Experimental MF/BP Leaf Term GOA',NULL,10462,NULL,'GO:0044183|F:protein binding involved in protein folding|IPI',NULL,NULL,NULL,NULL,NULL),(138077,'Experimental MF/BP Leaf Term GOA',NULL,10468,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:1905907|P:negative regulation of amyloid fibril formation|IGI',NULL,NULL,NULL,NULL,NULL),(138078,'Experimental MF/BP Leaf Term GOA',NULL,10470,NULL,'GO:0004957|F:prostaglandin E receptor activity|IDA; GO:2000420|P:negative regulation of eosinophil extravasation|IDA; GO:0033624|P:negative regulation of integrin activation|IDA',NULL,NULL,NULL,NULL,NULL),(138079,'Experimental MF/BP Leaf Term GOA',NULL,10474,NULL,'GO:0005096|F:GTPase activator activity|IMP; GO:0070266|P:necroptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(138080,'Experimental MF/BP Leaf Term GOA',NULL,10475,NULL,'GO:0005019|F:platelet-derived growth factor beta-receptor activity|IDA; GO:0048407|F:platelet-derived growth factor binding|IDA; GO:0005161|F:platelet-derived growth factor receptor binding|IPI; GO:0038085|F:vascular endothelial growth factor binding|IPI; GO:0038091|P:positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138081,'Experimental MF/BP Leaf Term GOA',NULL,10476,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071360|P:cellular response to exogenous dsRNA|IMP; GO:2000786|P:positive regulation of autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138082,'Experimental MF/BP Leaf Term GOA',NULL,10477,NULL,'GO:0047402|F:protein-glucosylgalactosylhydroxylysine glucosidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138083,'Experimental MF/BP Leaf Term GOA',NULL,10479,NULL,'GO:0004666|F:prostaglandin-endoperoxide synthase activity|IDA; GO:0019371|P:cyclooxygenase pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138084,'Experimental MF/BP Leaf Term GOA',NULL,10480,NULL,'GO:0001605|F:adrenomedullin receptor activity|IPI; GO:1990410|P:adrenomedullin receptor signaling pathway|IPI; GO:0038041|P:cross-receptor inhibition within G protein-coupled receptor heterodimer|IPI; GO:1905665|P:positive regulation of calcium ion import across plasma membrane|IGI; GO:0010739|P:positive regulation of protein kinase A signaling|IGI; GO:0051897|P:positive regulation of protein kinase B signaling|IGI; GO:0001921|P:positive regulation of receptor recycling|IDA',NULL,NULL,NULL,NULL,NULL),(138085,'Experimental MF/BP Leaf Term GOA',NULL,10481,NULL,'GO:0043136|F:glycerol-3-phosphatase activity|IDA; GO:0008967|F:phosphoglycolate phosphatase activity|IDA; GO:0045721|P:negative regulation of gluconeogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138086,'Experimental MF/BP Leaf Term GOA',NULL,10484,NULL,'GO:0004621|F:glycosylphosphatidylinositol phospholipase D activity|IDA; GO:0002042|P:cell migration involved in sprouting angiogenesis|IMP; GO:0071277|P:cellular response to calcium ion|IDA; GO:0071397|P:cellular response to cholesterol|IMP; GO:0032869|P:cellular response to insulin stimulus|IDA; GO:0071401|P:cellular response to triglyceride|IMP; GO:0006507|P:GPI anchor release|IDA; GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IDA',NULL,NULL,NULL,NULL,NULL),(138087,'Experimental MF/BP Leaf Term GOA',NULL,10488,NULL,'GO:0015057|F:thrombin-activated receptor activity|IDA; GO:0002248|P:connective tissue replacement involved in inflammatory response wound healing|IDA; GO:0030168|P:platelet activation|IDA; GO:0032967|P:positive regulation of collagen biosynthetic process|IDA; GO:2000778|P:positive regulation of interleukin-6 secretion|IDA; GO:2000484|P:positive regulation of interleukin-8 secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138088,'Experimental MF/BP Leaf Term GOA',NULL,10492,NULL,'GO:0034046|F:poly(G) binding|IDA; GO:0008266|F:poly(U) RNA binding|IDA; GO:0033962|P:cytoplasmic mRNA processing body assembly|IDA; GO:0000290|P:deadenylation-dependent decapping of nuclear-transcribed mRNA|IDA',NULL,NULL,NULL,NULL,NULL),(138089,'Experimental MF/BP Leaf Term GOA',NULL,10493,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IMP; GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IMP; GO:0070213|P:protein auto-ADP-ribosylation|IMP; GO:0070212|P:protein poly-ADP-ribosylation|IDA',NULL,NULL,NULL,NULL,NULL),(138090,'Experimental MF/BP Leaf Term GOA',NULL,10495,NULL,'GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138091,'Experimental MF/BP Leaf Term GOA',NULL,10497,NULL,'GO:0034446|P:substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(138092,'Experimental MF/BP Leaf Term GOA',NULL,10498,NULL,'GO:0004535|F:poly(A)-specific ribonuclease activity|IDA; GO:0000495|P:box H/ACA snoRNA 3\'-end processing|IDA; GO:0010587|P:miRNA catabolic process|IDA; GO:0110008|P:ncRNA deadenylation|IMP; GO:0071051|P:polyadenylation-dependent snoRNA 3\'-end processing|IDA; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP; GO:0090669|P:telomerase RNA stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(138093,'Experimental MF/BP Leaf Term GOA',NULL,10501,NULL,'GO:1904447|P:folate import across plasma membrane|IDA; GO:0051958|P:methotrexate transport|IDA',NULL,NULL,NULL,NULL,NULL),(138094,'Experimental MF/BP Leaf Term GOA',NULL,10505,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0002001|P:renin secretion into blood stream|IEP; GO:0019058|P:viral life cycle|IEP',NULL,NULL,NULL,NULL,NULL),(138095,'Experimental MF/BP Leaf Term GOA',NULL,10506,NULL,'GO:0004115|F:3\',5\'-cyclic-AMP phosphodiesterase activity|IMP',NULL,NULL,NULL,NULL,NULL),(138096,'Experimental MF/BP Leaf Term GOA',NULL,10508,NULL,'GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IDA; GO:1905662|P:negative regulation of telomerase RNA reverse transcriptase activity|IMP; GO:1990166|P:protein localization to site of double-strand break|IMP',NULL,NULL,NULL,NULL,NULL),(138097,'Experimental MF/BP Leaf Term GOA',NULL,10512,NULL,'GO:0007094|P:mitotic spindle assembly checkpoint|IMP',NULL,NULL,NULL,NULL,NULL),(138098,'Experimental MF/BP Leaf Term GOA',NULL,10513,NULL,'GO:0008201|F:heparin binding|IDA; GO:0048406|F:nerve growth factor binding|IDA; GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0032902|P:nerve growth factor production|IDA',NULL,NULL,NULL,NULL,NULL),(138099,'Experimental MF/BP Leaf Term GOA',NULL,10514,NULL,'GO:0004956|F:prostaglandin D receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138100,'Experimental MF/BP Leaf Term GOA',NULL,10518,NULL,'GO:0010698|F:acetyltransferase activator activity|IDA; GO:0048487|F:beta-tubulin binding|IPI; GO:0008201|F:heparin binding|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:1903645|P:negative regulation of chaperone-mediated protein folding|IMP; GO:1903638|P:positive regulation of protein import into mitochondrial outer membrane|IMP; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(138101,'Experimental MF/BP Leaf Term GOA',NULL,10519,NULL,'GO:0004740|F:pyruvate dehydrogenase (acetyl-transferring) kinase activity|IDA; GO:0097411|P:hypoxia-inducible factor-1alpha signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138102,'Experimental MF/BP Leaf Term GOA',NULL,10521,NULL,'GO:0005524|F:ATP binding|IDA; GO:0004740|F:pyruvate dehydrogenase (acetyl-transferring) kinase activity|IDA; GO:0097411|P:hypoxia-inducible factor-1alpha signaling pathway|IMP; GO:0035357|P:peroxisome proliferator activated receptor signaling pathway|IMP; GO:0010510|P:regulation of acetyl-CoA biosynthetic process from pyruvate|IMP',NULL,NULL,NULL,NULL,NULL),(138103,'Experimental MF/BP Leaf Term GOA',NULL,10522,NULL,'GO:0005161|F:platelet-derived growth factor receptor binding|IPI; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(138104,'Experimental MF/BP Leaf Term GOA',NULL,10530,NULL,'GO:0071391|P:cellular response to estrogen stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(138105,'Experimental MF/BP Leaf Term GOA',NULL,10539,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0048407|F:platelet-derived growth factor binding|IPI; GO:0005161|F:platelet-derived growth factor receptor binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0035793|P:positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(138106,'Experimental MF/BP Leaf Term GOA',NULL,10540,NULL,'GO:0004115|F:3\',5\'-cyclic-AMP phosphodiesterase activity|IDA; GO:0030552|F:cAMP binding|IGI',NULL,NULL,NULL,NULL,NULL),(138107,'Experimental MF/BP Leaf Term GOA',NULL,10541,NULL,'GO:0004115|F:3\',5\'-cyclic-AMP phosphodiesterase activity|IDA; GO:0030552|F:cAMP binding|IGI; GO:0050852|P:T cell receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138108,'Experimental MF/BP Leaf Term GOA',NULL,10542,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0048407|F:platelet-derived growth factor binding|IPI; GO:0005161|F:platelet-derived growth factor receptor binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0016176|F:superoxide-generating NADPH oxidase activator activity|IDA; GO:0032148|P:activation of protein kinase B activity|IDA; GO:0035655|P:interleukin-18-mediated signaling pathway|IDA; GO:0002548|P:monocyte chemotaxis|IDA; GO:1902894|P:negative regulation of pri-miRNA transcription by RNA polymerase II|IDA; GO:1900127|P:positive regulation of hyaluronan biosynthetic process|IDA; GO:0035793|P:positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IDA; GO:1904754|P:positive regulation of vascular associated smooth muscle cell migration|IDA; GO:1905176|P:positive regulation of vascular smooth muscle cell dedifferentiation|IDA; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IDA; GO:0070528|P:protein kinase C signaling|IMP',NULL,NULL,NULL,NULL,NULL),(138109,'Experimental MF/BP Leaf Term GOA',NULL,10544,NULL,'GO:0046325|P:negative regulation of glucose import|IDA',NULL,NULL,NULL,NULL,NULL),(138110,'Experimental MF/BP Leaf Term GOA',NULL,10545,NULL,'GO:0048041|P:focal adhesion assembly|IMP; GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(138111,'Experimental MF/BP Leaf Term GOA',NULL,10547,NULL,'GO:0070936|P:protein K48-linked ubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(138112,'Experimental MF/BP Leaf Term GOA',NULL,10548,NULL,'GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(138113,'Experimental MF/BP Leaf Term GOA',NULL,10549,NULL,'GO:0097202|P:activation of cysteine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138114,'Experimental MF/BP Leaf Term GOA',NULL,10551,NULL,'GO:0005053|F:peroxisome matrix targeting signal-2 binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0008611|P:ether lipid biosynthetic process|IMP; GO:0016558|P:protein import into peroxisome matrix|IDA',NULL,NULL,NULL,NULL,NULL),(138115,'Experimental MF/BP Leaf Term GOA',NULL,10552,NULL,'GO:1900747|P:negative regulation of vascular endothelial growth factor signaling pathway|IDA; GO:0051901|P:positive regulation of mitochondrial depolarization|IGI; GO:0090141|P:positive regulation of mitochondrial fission|IGI; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA',NULL,NULL,NULL,NULL,NULL),(138116,'Experimental MF/BP Leaf Term GOA',NULL,10556,NULL,'GO:0050901|P:leukocyte tethering or rolling|IDA',NULL,NULL,NULL,NULL,NULL),(138117,'Experimental MF/BP Leaf Term GOA',NULL,10557,NULL,'GO:0005525|F:GTP binding|IMP; GO:0010592|P:positive regulation of lamellipodium assembly|IMP; GO:0090023|P:positive regulation of neutrophil chemotaxis|IMP',NULL,NULL,NULL,NULL,NULL),(138118,'Experimental MF/BP Leaf Term GOA',NULL,10559,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0008656|F:cysteine-type endopeptidase activator activity involved in apoptotic process|IMP; GO:0042803|F:protein homodimerization activity|IDA; GO:0005080|F:protein kinase C binding|IDA; GO:0042169|F:SH2 domain binding|IDA; GO:0071333|P:cellular response to glucose stimulus|IDA; GO:0051898|P:negative regulation of protein kinase B signaling|IMP; GO:0051343|P:positive regulation of cyclic-nucleotide phosphodiesterase activity|IMP; GO:0051901|P:positive regulation of mitochondrial depolarization|IMP; GO:0072344|P:rescue of stalled ribosome|IMP',NULL,NULL,NULL,NULL,NULL),(138119,'Experimental MF/BP Leaf Term GOA',NULL,10560,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0000403|F:Y-form DNA binding|IDA; GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(138120,'Experimental MF/BP Leaf Term GOA',NULL,10561,NULL,'GO:0051598|P:meiotic recombination checkpoint|IGI',NULL,NULL,NULL,NULL,NULL),(138121,'Experimental MF/BP Leaf Term GOA',NULL,10563,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0016558|P:protein import into peroxisome matrix|IDA',NULL,NULL,NULL,NULL,NULL),(138122,'Experimental MF/BP Leaf Term GOA',NULL,10564,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0106101|P:ER-dependent peroxisome localization|IDA; GO:0032581|P:ER-dependent peroxisome organization|IDA; GO:0016557|P:peroxisome membrane biogenesis|IMP; GO:0016558|P:protein import into peroxisome matrix|IMP; GO:0045046|P:protein import into peroxisome membrane|IMP',NULL,NULL,NULL,NULL,NULL),(138123,'Experimental MF/BP Leaf Term GOA',NULL,10565,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0008270|F:zinc ion binding|IMP; GO:0016558|P:protein import into peroxisome matrix|IMP',NULL,NULL,NULL,NULL,NULL),(138124,'Experimental MF/BP Leaf Term GOA',NULL,10566,NULL,'GO:0004958|F:prostaglandin F receptor activity|IDA; GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IDA; GO:0071799|P:cellular response to prostaglandin D stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(138125,'Experimental MF/BP Leaf Term GOA',NULL,10567,NULL,'GO:0044183|F:protein binding involved in protein folding|IPI',NULL,NULL,NULL,NULL,NULL),(138126,'Experimental MF/BP Leaf Term GOA',NULL,10568,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(138127,'Experimental MF/BP Leaf Term GOA',NULL,10573,NULL,'GO:0004649|F:poly(ADP-ribose) glycohydrolase activity|IDA; GO:1990966|P:ATP generation from poly-ADP-D-ribose|IDA',NULL,NULL,NULL,NULL,NULL),(138128,'Experimental MF/BP Leaf Term GOA',NULL,10574,NULL,'GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IDA; GO:0097677|F:STAT family protein binding|IPI; GO:0002230|P:positive regulation of defense response to virus by host|IGI; GO:2001034|P:positive regulation of double-strand break repair via nonhomologous end joining|IMP; GO:0060335|P:positive regulation of interferon-gamma-mediated signaling pathway|IMP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(138129,'Experimental MF/BP Leaf Term GOA',NULL,10578,NULL,'GO:0047184|F:1-acylglycerophosphocholine O-acyltransferase activity|IDA; GO:0036151|P:phosphatidylcholine acyl-chain remodeling|IDA',NULL,NULL,NULL,NULL,NULL),(138130,'Experimental MF/BP Leaf Term GOA',NULL,10586,NULL,'GO:0070888|F:E-box binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0032922|P:circadian regulation of gene expression|IDA',NULL,NULL,NULL,NULL,NULL),(138131,'Experimental MF/BP Leaf Term GOA',NULL,10587,NULL,'GO:0051087|F:chaperone binding|IDA; GO:0051131|P:chaperone-mediated protein complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138132,'Experimental MF/BP Leaf Term GOA',NULL,10591,NULL,'GO:1990967|P:multi-organism toxin transport|IMP',NULL,NULL,NULL,NULL,NULL),(138133,'Experimental MF/BP Leaf Term GOA',NULL,10594,NULL,'GO:0070370|P:cellular heat acclimation|IDA',NULL,NULL,NULL,NULL,NULL),(138134,'Experimental MF/BP Leaf Term GOA',NULL,10596,NULL,'GO:0031489|F:myosin V binding|IPI',NULL,NULL,NULL,NULL,NULL),(138135,'Experimental MF/BP Leaf Term GOA',NULL,10597,NULL,'GO:0097051|P:establishment of protein localization to endoplasmic reticulum membrane|IMP; GO:2000786|P:positive regulation of autophagosome assembly|IMP; GO:1903373|P:positive regulation of endoplasmic reticulum tubular network organization|IMP',NULL,NULL,NULL,NULL,NULL),(138136,'Experimental MF/BP Leaf Term GOA',NULL,10599,NULL,'GO:0018276|P:isopeptide cross-linking via N6-glycyl-L-lysine|IMP',NULL,NULL,NULL,NULL,NULL),(138137,'Experimental MF/BP Leaf Term GOA',NULL,10600,NULL,'GO:0019003|F:GDP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138138,'Experimental MF/BP Leaf Term GOA',NULL,10601,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138139,'Experimental MF/BP Leaf Term GOA',NULL,10602,NULL,'GO:0000045|P:autophagosome assembly|IMP; GO:0042308|P:negative regulation of protein import into nucleus|IMP',NULL,NULL,NULL,NULL,NULL),(138140,'Experimental MF/BP Leaf Term GOA',NULL,10604,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0032869|P:cellular response to insulin stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(138141,'Experimental MF/BP Leaf Term GOA',NULL,10605,NULL,'GO:0030742|F:GTP-dependent protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(138142,'Experimental MF/BP Leaf Term GOA',NULL,10607,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0031489|F:myosin V binding|IPI',NULL,NULL,NULL,NULL,NULL),(138143,'Experimental MF/BP Leaf Term GOA',NULL,10608,NULL,'GO:0019003|F:GDP binding|IDA; GO:0045046|P:protein import into peroxisome membrane|IDA',NULL,NULL,NULL,NULL,NULL),(138144,'Experimental MF/BP Leaf Term GOA',NULL,10610,NULL,'GO:0031489|F:myosin V binding|IPI; GO:0045453|P:bone resorption|IDA',NULL,NULL,NULL,NULL,NULL),(138145,'Experimental MF/BP Leaf Term GOA',NULL,10611,NULL,'GO:0007004|P:telomere maintenance via telomerase|IDA; GO:0031860|P:telomeric 3\' overhang formation|IMP',NULL,NULL,NULL,NULL,NULL),(138146,'Experimental MF/BP Leaf Term GOA',NULL,10614,NULL,'GO:0030742|F:GTP-dependent protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(138147,'Experimental MF/BP Leaf Term GOA',NULL,10615,NULL,'GO:0019003|F:GDP binding|IMP; GO:0005525|F:GTP binding|IDA; GO:0000287|F:magnesium ion binding|IMP; GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0030033|P:microvillus assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138148,'Experimental MF/BP Leaf Term GOA',NULL,10617,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138149,'Experimental MF/BP Leaf Term GOA',NULL,10621,NULL,'GO:0070402|F:NADPH binding|IDA; GO:0003960|F:NADPH:quinone reductase activity|IDA; GO:0051289|P:protein homotetramerization|IPI',NULL,NULL,NULL,NULL,NULL),(138150,'Experimental MF/BP Leaf Term GOA',NULL,10622,NULL,'GO:0005525|F:GTP binding|IDA; GO:0070830|P:bicellular tight junction assembly|IMP; GO:0010737|P:protein kinase A signaling|IMP',NULL,NULL,NULL,NULL,NULL),(138151,'Experimental MF/BP Leaf Term GOA',NULL,10624,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138152,'Experimental MF/BP Leaf Term GOA',NULL,10625,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138153,'Experimental MF/BP Leaf Term GOA',NULL,10628,NULL,'GO:0019003|F:GDP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138154,'Experimental MF/BP Leaf Term GOA',NULL,10629,NULL,'GO:0031489|F:myosin V binding|IPI',NULL,NULL,NULL,NULL,NULL),(138155,'Experimental MF/BP Leaf Term GOA',NULL,10630,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138156,'Experimental MF/BP Leaf Term GOA',NULL,10631,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0031489|F:myosin V binding|IPI; GO:0097051|P:establishment of protein localization to endoplasmic reticulum membrane|IMP',NULL,NULL,NULL,NULL,NULL),(138157,'Experimental MF/BP Leaf Term GOA',NULL,10632,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0045792|P:negative regulation of cell size|IMP; GO:0034260|P:negative regulation of GTPase activity|IMP; GO:2000643|P:positive regulation of early endosome to late endosome transport|IGI; GO:1902966|P:positive regulation of protein localization to early endosome|IGI',NULL,NULL,NULL,NULL,NULL),(138158,'Experimental MF/BP Leaf Term GOA',NULL,10633,NULL,'GO:0005096|F:GTPase activator activity|EXP; GO:0001784|F:phosphotyrosine residue binding|IPI',NULL,NULL,NULL,NULL,NULL),(138159,'Experimental MF/BP Leaf Term GOA',NULL,10642,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(138160,'Experimental MF/BP Leaf Term GOA',NULL,10645,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138161,'Experimental MF/BP Leaf Term GOA',NULL,10650,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(138162,'Experimental MF/BP Leaf Term GOA',NULL,10652,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(138163,'Experimental MF/BP Leaf Term GOA',NULL,10655,NULL,'GO:0071347|P:cellular response to interleukin-1|IDA; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(138164,'Experimental MF/BP Leaf Term GOA',NULL,10656,NULL,'GO:0034498|P:early endosome to Golgi transport|IMP; GO:0090160|P:Golgi to lysosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(138165,'Experimental MF/BP Leaf Term GOA',NULL,10660,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0070888|F:E-box binding|IDA; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0042789|P:mRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(138166,'Experimental MF/BP Leaf Term GOA',NULL,10662,NULL,'GO:0097602|F:cullin family protein binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:0034450|F:ubiquitin-ubiquitin ligase activity|IDA; GO:0045116|P:protein neddylation|IDA; GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(138167,'Experimental MF/BP Leaf Term GOA',NULL,10663,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(138168,'Experimental MF/BP Leaf Term GOA',NULL,10665,NULL,'GO:0031492|F:nucleosomal DNA binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0005087|F:Ran guanyl-nucleotide exchange factor activity|IDA; GO:0043199|F:sulfate binding|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IMP; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(138169,'Experimental MF/BP Leaf Term GOA',NULL,10666,NULL,'GO:0072356|P:chromosome passenger complex localization to kinetochore|IMP; GO:0048041|P:focal adhesion assembly|IDA; GO:0007229|P:integrin-mediated signaling pathway|IDA; GO:0034260|P:negative regulation of GTPase activity|IMP',NULL,NULL,NULL,NULL,NULL),(138170,'Experimental MF/BP Leaf Term GOA',NULL,10670,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0101030|P:tRNA-guanine transglycosylation|IDA',NULL,NULL,NULL,NULL,NULL),(138171,'Experimental MF/BP Leaf Term GOA',NULL,10675,NULL,'GO:0016603|F:glutaminyl-peptide cyclotransferase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0017186|P:peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|IDA',NULL,NULL,NULL,NULL,NULL),(138172,'Experimental MF/BP Leaf Term GOA',NULL,10678,NULL,'GO:0031489|F:myosin V binding|IPI',NULL,NULL,NULL,NULL,NULL),(138173,'Experimental MF/BP Leaf Term GOA',NULL,10683,NULL,'GO:0019003|F:GDP binding|IDA; GO:0031489|F:myosin V binding|IPI; GO:0051586|P:positive regulation of dopamine uptake involved in synaptic transmission|IDA; GO:0097494|P:regulation of vesicle size|IDA',NULL,NULL,NULL,NULL,NULL),(138174,'Experimental MF/BP Leaf Term GOA',NULL,10685,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138175,'Experimental MF/BP Leaf Term GOA',NULL,10686,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:1905394|F:retromer complex binding|IMP; GO:0000045|P:autophagosome assembly|IMP; GO:0045022|P:early endosome to late endosome transport|IMP; GO:0007174|P:epidermal growth factor catabolic process|IMP; GO:1903542|P:negative regulation of exosomal secretion|IMP; GO:1903543|P:positive regulation of exosomal secretion|IMP',NULL,NULL,NULL,NULL,NULL),(138176,'Experimental MF/BP Leaf Term GOA',NULL,10689,NULL,'GO:0034499|P:late endosome to Golgi transport|IMP; GO:0045654|P:positive regulation of megakaryocyte differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(138177,'Experimental MF/BP Leaf Term GOA',NULL,10693,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0031489|F:myosin V binding|IPI; GO:0045054|P:constitutive secretory pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138178,'Experimental MF/BP Leaf Term GOA',NULL,10701,NULL,'GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IMP; GO:0035970|P:peptidyl-threonine dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(138179,'Experimental MF/BP Leaf Term GOA',NULL,10706,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138180,'Experimental MF/BP Leaf Term GOA',NULL,10708,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0030676|F:Rac guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138181,'Experimental MF/BP Leaf Term GOA',NULL,10709,NULL,'GO:0048387|P:negative regulation of retinoic acid receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138182,'Experimental MF/BP Leaf Term GOA',NULL,10711,NULL,'GO:0008379|F:thioredoxin peroxidase activity|IDA; GO:0019430|P:removal of superoxide radicals|IDA',NULL,NULL,NULL,NULL,NULL),(138183,'Experimental MF/BP Leaf Term GOA',NULL,10713,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(138184,'Experimental MF/BP Leaf Term GOA',NULL,10717,NULL,'GO:0035650|F:AP-1 adaptor complex binding|IPI; GO:0035651|F:AP-3 adaptor complex binding|IPI; GO:0036461|F:BLOC-2 complex binding|IPI; GO:0030742|F:GTP-dependent protein binding|IPI; GO:0035646|P:endosome to melanosome transport|IMP; GO:1903232|P:melanosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138185,'Experimental MF/BP Leaf Term GOA',NULL,10718,NULL,'GO:0019003|F:GDP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138186,'Experimental MF/BP Leaf Term GOA',NULL,10720,NULL,'GO:0043015|F:gamma-tubulin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138187,'Experimental MF/BP Leaf Term GOA',NULL,10722,NULL,'GO:0019003|F:GDP binding|IMP; GO:0005525|F:GTP binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0071480|P:cellular response to gamma radiation|IDA; GO:0034260|P:negative regulation of GTPase activity|IDA; GO:2000251|P:positive regulation of actin cytoskeleton reorganization|IDA; GO:1900029|P:positive regulation of ruffle assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138188,'Experimental MF/BP Leaf Term GOA',NULL,10723,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0043422|F:protein kinase B binding|IPI; GO:0001972|F:retinoic acid binding|IDA; GO:0003708|F:retinoic acid receptor activity|IDA; GO:0044323|F:retinoic acid-responsive element binding|IDA; GO:0043277|P:apoptotic cell clearance|IMP; GO:0071391|P:cellular response to estrogen stimulus|IDA; GO:0071300|P:cellular response to retinoic acid|IDA; GO:0045630|P:positive regulation of T-helper 2 cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(138189,'Experimental MF/BP Leaf Term GOA',NULL,10724,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0000070|P:mitotic sister chromatid segregation|IMP; GO:0000060|P:protein import into nucleus, translocation|IMP; GO:1902570|P:protein localization to nucleolus|IMP; GO:0000055|P:ribosomal large subunit export from nucleus|IMP; GO:0000056|P:ribosomal small subunit export from nucleus|IMP; GO:0061015|P:snRNA import into nucleus|IMP',NULL,NULL,NULL,NULL,NULL),(138190,'Experimental MF/BP Leaf Term GOA',NULL,10726,NULL,'GO:0051142|P:positive regulation of NK T cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(138191,'Experimental MF/BP Leaf Term GOA',NULL,10727,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0006335|P:DNA replication-dependent nucleosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138192,'Experimental MF/BP Leaf Term GOA',NULL,10734,NULL,'GO:0070840|F:dynein complex binding|IDA; GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:1990967|P:multi-organism toxin transport|IMP; GO:0001921|P:positive regulation of receptor recycling|IMP; GO:0050862|P:positive regulation of T cell receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138193,'Experimental MF/BP Leaf Term GOA',NULL,10735,NULL,'GO:0019002|F:GMP binding|IMP; GO:0005525|F:GTP binding|IMP; GO:0035272|P:exocrine system development|IMP; GO:0099575|P:regulation of protein catabolic process at presynapse, modulating synaptic transmission|IDA',NULL,NULL,NULL,NULL,NULL),(138194,'Experimental MF/BP Leaf Term GOA',NULL,10736,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138195,'Experimental MF/BP Leaf Term GOA',NULL,10740,NULL,'GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(138196,'Experimental MF/BP Leaf Term GOA',NULL,10742,NULL,'GO:0019003|F:GDP binding|IMP; GO:0005525|F:GTP binding|IMP',NULL,NULL,NULL,NULL,NULL),(138197,'Experimental MF/BP Leaf Term GOA',NULL,10743,NULL,'GO:0071320|P:cellular response to cAMP|IDA; GO:0032486|P:Rap protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(138198,'Experimental MF/BP Leaf Term GOA',NULL,10744,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138199,'Experimental MF/BP Leaf Term GOA',NULL,10748,NULL,'GO:0016308|F:1-phosphatidylinositol-4-phosphate 5-kinase activity|IDA; GO:0031532|P:actin cytoskeleton reorganization|IMP; GO:0090630|P:activation of GTPase activity|IMP; GO:0048041|P:focal adhesion assembly|IMP; GO:0097178|P:ruffle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138200,'Experimental MF/BP Leaf Term GOA',NULL,10751,NULL,'GO:0004435|F:phosphatidylinositol phospholipase C activity|IDA; GO:0001784|F:phosphotyrosine residue binding|IPI',NULL,NULL,NULL,NULL,NULL),(138201,'Experimental MF/BP Leaf Term GOA',NULL,10752,NULL,'GO:0008083|F:growth factor activity|IMP',NULL,NULL,NULL,NULL,NULL),(138202,'Experimental MF/BP Leaf Term GOA',NULL,10754,NULL,'GO:0002357|P:defense response to tumor cell|IDA',NULL,NULL,NULL,NULL,NULL),(138203,'Experimental MF/BP Leaf Term GOA',NULL,10757,NULL,'GO:0048248|F:CXCR3 chemokine receptor binding|IDA; GO:0008201|F:heparin binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IDA; GO:0045653|P:negative regulation of megakaryocyte differentiation|IDA; GO:0045347|P:negative regulation of MHC class II biosynthetic process|IDA; GO:0030168|P:platelet activation|IDA; GO:0010744|P:positive regulation of macrophage derived foam cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(138204,'Experimental MF/BP Leaf Term GOA',NULL,10760,NULL,'GO:0042609|F:CD4 receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(138205,'Experimental MF/BP Leaf Term GOA',NULL,10761,NULL,'GO:0043522|F:leucine zipper domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(138206,'Experimental MF/BP Leaf Term GOA',NULL,10763,NULL,'GO:0032060|P:bleb assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138207,'Experimental MF/BP Leaf Term GOA',NULL,10765,NULL,'GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0072249|P:metanephric glomerular visceral epithelial cell development|IEP',NULL,NULL,NULL,NULL,NULL),(138208,'Experimental MF/BP Leaf Term GOA',NULL,10766,NULL,'GO:0033634|P:positive regulation of cell-cell adhesion mediated by integrin|IDA',NULL,NULL,NULL,NULL,NULL),(138209,'Experimental MF/BP Leaf Term GOA',NULL,10771,NULL,'GO:0017084|F:delta1-pyrroline-5-carboxylate synthetase activity|EXP; GO:0004349|F:glutamate 5-kinase activity|IDA; GO:0004350|F:glutamate-5-semialdehyde dehydrogenase activity|IDA; GO:0019240|P:citrulline biosynthetic process|IMP; GO:0006592|P:ornithine biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(138210,'Experimental MF/BP Leaf Term GOA',NULL,10774,NULL,'GO:0097003|F:adipokinetic hormone receptor activity|IDA; GO:0055100|F:adiponectin binding|IDA; GO:0033211|P:adiponectin-activated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138211,'Experimental MF/BP Leaf Term GOA',NULL,10775,NULL,'GO:0035926|P:chemokine (C-C motif) ligand 2 secretion|IDA; GO:0050702|P:interleukin-1 beta secretion|IDA; GO:0072608|P:interleukin-10 secretion|IDA; GO:0097029|P:mature conventional dendritic cell differentiation|IDA; GO:0034140|P:negative regulation of toll-like receptor 3 signaling pathway|IMP; GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IDA; GO:0002741|P:positive regulation of cytokine secretion involved in immune response|IDA; GO:0043311|P:positive regulation of eosinophil degranulation|IDA; GO:2000778|P:positive regulation of interleukin-6 secretion|IDA; GO:2000484|P:positive regulation of interleukin-8 secretion|IDA; GO:0070963|P:positive regulation of neutrophil mediated killing of gram-negative bacterium|IDA; GO:0035025|P:positive regulation of Rho protein signal transduction|IMP; GO:0032930|P:positive regulation of superoxide anion generation|IDA; GO:0034137|P:positive regulation of toll-like receptor 2 signaling pathway|IMP; GO:0034141|P:positive regulation of toll-like receptor 3 signaling pathway|IMP; GO:0034145|P:positive regulation of toll-like receptor 4 signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138212,'Experimental MF/BP Leaf Term GOA',NULL,10776,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IDA; GO:1990404|F:protein ADP-ribosylase activity|IDA; GO:1990966|P:ATP generation from poly-ADP-D-ribose|IDA; GO:0032869|P:cellular response to insulin stimulus|IDA; GO:0043504|P:mitochondrial DNA repair|IMP; GO:0018312|P:peptidyl-serine ADP-ribosylation|IDA; GO:0070212|P:protein poly-ADP-ribosylation|IDA',NULL,NULL,NULL,NULL,NULL),(138213,'Experimental MF/BP Leaf Term GOA',NULL,10778,NULL,'GO:1990404|F:protein ADP-ribosylase activity|IDA; GO:0018312|P:peptidyl-serine ADP-ribosylation|IDA',NULL,NULL,NULL,NULL,NULL),(138214,'Experimental MF/BP Leaf Term GOA',NULL,10784,NULL,'GO:0047184|F:1-acylglycerophosphocholine O-acyltransferase activity|IDA; GO:0036151|P:phosphatidylcholine acyl-chain remodeling|IDA',NULL,NULL,NULL,NULL,NULL),(138215,'Experimental MF/BP Leaf Term GOA',NULL,10787,NULL,'GO:0005525|F:GTP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0004613|F:phosphoenolpyruvate carboxykinase (GTP) activity|IMP; GO:0006094|P:gluconeogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138216,'Experimental MF/BP Leaf Term GOA',NULL,10788,NULL,'GO:0007098|P:centrosome cycle|IMP; GO:0035735|P:intraciliary transport involved in cilium assembly|IMP; GO:1905515|P:non-motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138217,'Experimental MF/BP Leaf Term GOA',NULL,10794,NULL,'GO:0046007|P:negative regulation of activated T cell proliferation|IMP; GO:2000562|P:negative regulation of CD4-positive, alpha-beta T cell proliferation|IDA; GO:1905404|P:positive regulation of activated CD8-positive, alpha-beta T cell apoptotic process|IDA; GO:2001181|P:positive regulation of interleukin-10 secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138218,'Experimental MF/BP Leaf Term GOA',NULL,10795,NULL,'GO:0050750|F:low-density lipoprotein particle receptor binding|IDA; GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0019871|F:sodium channel inhibitor activity|IDA; GO:0070326|F:very-low-density lipoprotein particle receptor binding|IDA; GO:0042632|P:cholesterol homeostasis|IMP; GO:0032802|P:low-density lipoprotein particle receptor catabolic process|IDA; GO:0010989|P:negative regulation of low-density lipoprotein particle clearance|IDA; GO:1905596|P:negative regulation of low-density lipoprotein particle receptor binding|IDA; GO:1905598|P:negative regulation of low-density lipoprotein receptor activity|IDA; GO:0001920|P:negative regulation of receptor recycling|IDA; GO:1905601|P:negative regulation of receptor-mediated endocytosis involved in cholesterol transport|IDA; GO:0032805|P:positive regulation of low-density lipoprotein particle receptor catabolic process|IDA; GO:0016540|P:protein autoprocessing|IDA',NULL,NULL,NULL,NULL,NULL),(138219,'Experimental MF/BP Leaf Term GOA',NULL,10803,NULL,'GO:0044183|F:protein binding involved in protein folding|IPI',NULL,NULL,NULL,NULL,NULL),(138220,'Experimental MF/BP Leaf Term GOA',NULL,10804,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0036105|F:peroxisome membrane class-1 targeting sequence binding|IDA; GO:1900131|P:negative regulation of lipid binding|IDA; GO:0016559|P:peroxisome fission|IMP; GO:0016557|P:peroxisome membrane biogenesis|IDA; GO:0045046|P:protein import into peroxisome membrane|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(138221,'Experimental MF/BP Leaf Term GOA',NULL,10806,NULL,'GO:0044548|F:S100 protein binding|IPI; GO:0010255|P:glucose mediated signaling pathway|IDA; GO:0090647|P:modulation of age-related behavioral decline|IGI; GO:1900453|P:negative regulation of long-term synaptic depression|IGI; GO:1900272|P:negative regulation of long-term synaptic potentiation|IGI; GO:0042104|P:positive regulation of activated T cell proliferation|IMP; GO:0061890|P:positive regulation of astrocyte activation|IGI; GO:2001200|P:positive regulation of dendritic cell differentiation|IMP; GO:1903980|P:positive regulation of microglial cell activation|IGI; GO:1900745|P:positive regulation of p38MAPK cascade|IGI',NULL,NULL,NULL,NULL,NULL),(138222,'Experimental MF/BP Leaf Term GOA',NULL,10807,NULL,'GO:0050220|F:prostaglandin-E synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138223,'Experimental MF/BP Leaf Term GOA',NULL,10808,NULL,'GO:0004666|F:prostaglandin-endoperoxide synthase activity|IDA; GO:0071456|P:cellular response to hypoxia|IEP; GO:0019371|P:cyclooxygenase pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138224,'Experimental MF/BP Leaf Term GOA',NULL,10809,NULL,'GO:0032922|P:circadian regulation of gene expression|IMP',NULL,NULL,NULL,NULL,NULL),(138225,'Experimental MF/BP Leaf Term GOA',NULL,10810,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0031755|F:Edg-2 lysophosphatidic acid receptor binding|IDA; GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0051491|P:positive regulation of filopodium assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138226,'Experimental MF/BP Leaf Term GOA',NULL,10813,NULL,'GO:0008124|F:4-alpha-hydroxytetrahydrobiopterin dehydratase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138227,'Experimental MF/BP Leaf Term GOA',NULL,10818,NULL,'GO:0008201|F:heparin binding|IDA; GO:0034374|P:low-density lipoprotein particle remodeling|IDA',NULL,NULL,NULL,NULL,NULL),(138228,'Experimental MF/BP Leaf Term GOA',NULL,10819,NULL,'GO:0001771|P:immunological synapse formation|IDA',NULL,NULL,NULL,NULL,NULL),(138229,'Experimental MF/BP Leaf Term GOA',NULL,10820,NULL,'GO:0048487|F:beta-tubulin binding|IPI; GO:1901094|P:negative regulation of protein homotetramerization|IDA; GO:0036250|P:peroxisome transport along microtubule|IDA; GO:0016558|P:protein import into peroxisome matrix|IMP; GO:0044721|P:protein import into peroxisome matrix, substrate release|IDA; GO:0016561|P:protein import into peroxisome matrix, translocation|IDA',NULL,NULL,NULL,NULL,NULL),(138230,'Experimental MF/BP Leaf Term GOA',NULL,10821,NULL,'GO:0005524|F:ATP binding|IMP; GO:0008022|F:protein C-terminus binding|IPI; GO:0060152|P:microtubule-based peroxisome localization|IMP; GO:0016558|P:protein import into peroxisome matrix|IMP',NULL,NULL,NULL,NULL,NULL),(138231,'Experimental MF/BP Leaf Term GOA',NULL,10823,NULL,'GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IDA; GO:0070403|F:NAD+ binding|IMP; GO:0060336|P:negative regulation of interferon-gamma-mediated signaling pathway|IMP; GO:0042532|P:negative regulation of tyrosine phosphorylation of STAT protein|IMP; GO:1902216|P:positive regulation of interleukin-4-mediated signaling pathway|IMP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IMP; GO:0070212|P:protein poly-ADP-ribosylation|IMP',NULL,NULL,NULL,NULL,NULL),(138232,'Experimental MF/BP Leaf Term GOA',NULL,10824,NULL,'GO:0031532|P:actin cytoskeleton reorganization|IMP',NULL,NULL,NULL,NULL,NULL),(138233,'Experimental MF/BP Leaf Term GOA',NULL,10838,NULL,'GO:0036353|P:histone H2A-K119 monoubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(138234,'Experimental MF/BP Leaf Term GOA',NULL,10843,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0051683|P:establishment of Golgi localization|IMP; GO:0090168|P:Golgi reassembly|IMP; GO:1903588|P:negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IMP; GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(138235,'Experimental MF/BP Leaf Term GOA',NULL,10844,NULL,'GO:0005524|F:ATP binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0004740|F:pyruvate dehydrogenase (acetyl-transferring) kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138236,'Experimental MF/BP Leaf Term GOA',NULL,10854,NULL,'GO:0048487|F:beta-tubulin binding|IDA; GO:0043015|F:gamma-tubulin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138237,'Experimental MF/BP Leaf Term GOA',NULL,10858,NULL,'GO:0070097|F:delta-catenin binding|IDA; GO:0045218|P:zonula adherens maintenance|IMP',NULL,NULL,NULL,NULL,NULL),(138238,'Experimental MF/BP Leaf Term GOA',NULL,10860,NULL,'GO:0045294|F:alpha-catenin binding|IPI; GO:0002159|P:desmosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138239,'Experimental MF/BP Leaf Term GOA',NULL,10862,NULL,'GO:0042826|F:histone deacetylase binding|IDA; GO:0043297|P:apical junction assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138240,'Experimental MF/BP Leaf Term GOA',NULL,10863,NULL,'GO:1990050|F:phosphatidic acid transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(138241,'Experimental MF/BP Leaf Term GOA',NULL,10865,NULL,'GO:0047933|F:glucose-1,6-bisphosphate synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138242,'Experimental MF/BP Leaf Term GOA',NULL,10866,NULL,'GO:0001850|F:complement component C3a binding|IDA; GO:0001851|F:complement component C3b binding|IDA; GO:0042826|F:histone deacetylase binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0071354|P:cellular response to interleukin-6|IDA; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP; GO:2000323|P:negative regulation of glucocorticoid receptor signaling pathway|IDA; GO:0010944|P:negative regulation of transcription by competitive promoter binding|IDA; GO:0050847|P:progesterone receptor signaling pathway|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(138243,'Experimental MF/BP Leaf Term GOA',NULL,10870,NULL,'GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0010314|F:phosphatidylinositol-5-phosphate binding|IDA; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IDA; GO:0051898|P:negative regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(138244,'Experimental MF/BP Leaf Term GOA',NULL,10871,NULL,'GO:0052731|F:phosphocholine phosphatase activity|EXP; GO:0052732|F:phosphoethanolamine phosphatase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138245,'Experimental MF/BP Leaf Term GOA',NULL,10873,NULL,'GO:0033634|P:positive regulation of cell-cell adhesion mediated by integrin|IMP',NULL,NULL,NULL,NULL,NULL),(138246,'Experimental MF/BP Leaf Term GOA',NULL,10874,NULL,'GO:0046786|P:viral replication complex formation and maintenance|IMP',NULL,NULL,NULL,NULL,NULL),(138247,'Experimental MF/BP Leaf Term GOA',NULL,10876,NULL,'GO:0004430|F:1-phosphatidylinositol 4-kinase activity|IDA; GO:0071889|F:14-3-3 protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(138248,'Experimental MF/BP Leaf Term GOA',NULL,10878,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(138249,'Experimental MF/BP Leaf Term GOA',NULL,10883,NULL,'GO:0034584|F:piRNA binding|IDA; GO:0007286|P:spermatid development|IMP',NULL,NULL,NULL,NULL,NULL),(138250,'Experimental MF/BP Leaf Term GOA',NULL,10884,NULL,'GO:0031210|F:phosphatidylcholine binding|IDA',NULL,NULL,NULL,NULL,NULL),(138251,'Experimental MF/BP Leaf Term GOA',NULL,10886,NULL,'GO:0034584|F:piRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(138252,'Experimental MF/BP Leaf Term GOA',NULL,10887,NULL,'GO:0070300|F:phosphatidic acid binding|IDA',NULL,NULL,NULL,NULL,NULL),(138253,'Experimental MF/BP Leaf Term GOA',NULL,10888,NULL,'GO:0051898|P:negative regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(138254,'Experimental MF/BP Leaf Term GOA',NULL,10890,NULL,'GO:0016303|F:1-phosphatidylinositol-3-kinase activity|IMP; GO:0045022|P:early endosome to late endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(138255,'Experimental MF/BP Leaf Term GOA',NULL,10891,NULL,'GO:0045294|F:alpha-catenin binding|IPI; GO:0005080|F:protein kinase C binding|IPI; GO:0086073|P:bundle of His cell-Purkinje myocyte adhesion involved in cell communication|IMP; GO:0002159|P:desmosome assembly|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0086005|P:ventricular cardiac muscle cell action potential|IMP',NULL,NULL,NULL,NULL,NULL),(138256,'Experimental MF/BP Leaf Term GOA',NULL,10894,NULL,'GO:1990456|P:mitochondrion-endoplasmic reticulum membrane tethering|IDA',NULL,NULL,NULL,NULL,NULL),(138257,'Experimental MF/BP Leaf Term GOA',NULL,10895,NULL,'GO:0006264|P:mitochondrial DNA replication|IMP; GO:0034214|P:protein hexamerization|IDA',NULL,NULL,NULL,NULL,NULL),(138258,'Experimental MF/BP Leaf Term GOA',NULL,10896,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138259,'Experimental MF/BP Leaf Term GOA',NULL,10898,NULL,'GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(138260,'Experimental MF/BP Leaf Term GOA',NULL,10903,NULL,'GO:0016404|F:15-hydroxyprostaglandin dehydrogenase (NAD+) activity|IDA; GO:0070403|F:NAD+ binding|IDA; GO:0004957|F:prostaglandin E receptor activity|IDA; GO:0007565|P:female pregnancy|IDA; GO:0007567|P:parturition|IDA',NULL,NULL,NULL,NULL,NULL),(138261,'Experimental MF/BP Leaf Term GOA',NULL,10904,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0090630|P:activation of GTPase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138262,'Experimental MF/BP Leaf Term GOA',NULL,10907,NULL,'GO:0042834|F:peptidoglycan binding|IDA; GO:0016019|F:peptidoglycan receptor activity|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(138263,'Experimental MF/BP Leaf Term GOA',NULL,10908,NULL,'GO:0032454|F:histone demethylase activity (H3-K9 specific)|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0061188|P:negative regulation of chromatin silencing at rDNA|IMP',NULL,NULL,NULL,NULL,NULL),(138264,'Experimental MF/BP Leaf Term GOA',NULL,10911,NULL,'GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IMP; GO:0043539|F:protein serine/threonine kinase activator activity|IMP; GO:0036498|P:IRE1-mediated unfolded protein response|IMP; GO:0070213|P:protein auto-ADP-ribosylation|IMP',NULL,NULL,NULL,NULL,NULL),(138265,'Experimental MF/BP Leaf Term GOA',NULL,10912,NULL,'GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138266,'Experimental MF/BP Leaf Term GOA',NULL,10913,NULL,'GO:0050681|F:androgen receptor binding|IPI; GO:1903135|F:cupric ion binding|IDA; GO:1903136|F:cuprous ion binding|IDA; GO:0036478|F:L-dopa decarboxylase activator activity|IDA; GO:0045340|F:mercury ion binding|IDA; GO:0036524|F:protein deglycase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0097110|F:scaffold protein binding|IPI; GO:0016532|F:superoxide dismutase copper chaperone activity|IDA; GO:0036470|F:tyrosine 3-monooxygenase activator activity|IDA; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0036471|P:cellular response to glyoxal|IDA; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0050787|P:detoxification of mercury ion|IMP; GO:0036531|P:glutathione deglycation|IDA; GO:0106046|P:guanine deglycation, glyoxal removal|IDA; GO:0106045|P:guanine deglycation, methylglyoxal removal|IDA; GO:2001268|P:negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway|IMP; GO:1903384|P:negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway|IGI; GO:1905259|P:negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway|IDA; GO:1903094|P:negative regulation of protein K48-linked deubiquitination|IDA; GO:1903122|P:negative regulation of TRAIL-activated apoptotic signaling pathway|IMP; GO:2000157|P:negative regulation of ubiquitin-specific protease activity|IDA; GO:0036527|P:peptidyl-arginine deglycation|IDA; GO:0036526|P:peptidyl-cysteine deglycation|IDA; GO:0036528|P:peptidyl-lysine deglycation|IDA; GO:2000825|P:positive regulation of androgen receptor activity|IMP; GO:1903181|P:positive regulation of dopamine biosynthetic process|IDA; GO:1903197|P:positive regulation of L-dopa biosynthetic process|IMP; GO:1903200|P:positive regulation of L-dopa decarboxylase activity|IDA; GO:1902958|P:positive regulation of mitochondrial electron transport, NADH to ubiquinone|IMP; GO:0090073|P:positive regulation of protein homodimerization activity|IDA; GO:1903168|P:positive regulation of pyrroline-5-carboxylate reductase activity|IDA; GO:1901671|P:positive regulation of superoxide dismutase activity|IDA; GO:1903178|P:positive regulation of tyrosine 3-monooxygenase activity|IDA; GO:0036529|P:protein deglycation, glyoxal removal|IDA; GO:0036530|P:protein deglycation, methylglyoxal removal|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(138267,'Experimental MF/BP Leaf Term GOA',NULL,10914,NULL,'GO:0001658|P:branching involved in ureteric bud morphogenesis|IEP; GO:0035566|P:regulation of metanephros size|IMP',NULL,NULL,NULL,NULL,NULL),(138268,'Experimental MF/BP Leaf Term GOA',NULL,10924,NULL,'GO:0003273|P:cell migration involved in endocardial cushion formation|IMP; GO:0003192|P:mitral valve formation|IMP',NULL,NULL,NULL,NULL,NULL),(138269,'Experimental MF/BP Leaf Term GOA',NULL,10925,NULL,'GO:0070584|P:mitochondrion morphogenesis|IMP; GO:0046325|P:negative regulation of glucose import|IDA',NULL,NULL,NULL,NULL,NULL),(138270,'Experimental MF/BP Leaf Term GOA',NULL,10926,NULL,'GO:0070182|F:DNA polymerase binding|IPI; GO:0035035|F:histone acetyltransferase binding|IPI; GO:0032405|F:MutLalpha complex binding|IDA; GO:0000701|F:purine-specific mismatch base pair DNA N-glycosylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138271,'Experimental MF/BP Leaf Term GOA',NULL,10928,NULL,'GO:0007283|P:spermatogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138272,'Experimental MF/BP Leaf Term GOA',NULL,10929,NULL,'GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138273,'Experimental MF/BP Leaf Term GOA',NULL,10933,NULL,'GO:0004115|F:3\',5\'-cyclic-AMP phosphodiesterase activity|IDA; GO:0030552|F:cAMP binding|IMP; GO:0030553|F:cGMP binding|IDA; GO:0004118|F:cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0042301|F:phosphate ion binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0030911|F:TPR domain binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:1904613|P:cellular response to 2,3,7,8-tetrachlorodibenzodioxine|IDA; GO:0071320|P:cellular response to cAMP|IDA; GO:0071321|P:cellular response to cGMP|IDA; GO:0097011|P:cellular response to granulocyte macrophage colony-stimulating factor stimulus|IDA; GO:0036006|P:cellular response to macrophage colony-stimulating factor stimulus|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IEP; GO:0046069|P:cGMP catabolic process|IDA; GO:0030224|P:monocyte differentiation|IEP; GO:0033159|P:negative regulation of protein import into nucleus, translocation|IDA; GO:0043116|P:negative regulation of vascular permeability|IMP; GO:0043117|P:positive regulation of vascular permeability|IMP',NULL,NULL,NULL,NULL,NULL),(138274,'Experimental MF/BP Leaf Term GOA',NULL,10935,NULL,'GO:0005524|F:ATP binding|IDA; GO:0031403|F:lithium ion binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030955|F:potassium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0008478|F:pyridoxal kinase activity|IDA; GO:0030170|F:pyridoxal phosphate binding|IDA; GO:0031402|F:sodium ion binding|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138275,'Experimental MF/BP Leaf Term GOA',NULL,10936,NULL,'GO:0019166|F:trans-2-enoyl-CoA reductase (NADPH) activity|IDA',NULL,NULL,NULL,NULL,NULL),(138276,'Experimental MF/BP Leaf Term GOA',NULL,10941,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(138277,'Experimental MF/BP Leaf Term GOA',NULL,10946,NULL,'GO:0005524|F:ATP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0004550|F:nucleoside diphosphate kinase activity|IDA; GO:0043024|F:ribosomal small subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(138278,'Experimental MF/BP Leaf Term GOA',NULL,10948,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138279,'Experimental MF/BP Leaf Term GOA',NULL,10950,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138280,'Experimental MF/BP Leaf Term GOA',NULL,10951,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138281,'Experimental MF/BP Leaf Term GOA',NULL,10953,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138282,'Experimental MF/BP Leaf Term GOA',NULL,10956,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0071492|P:cellular response to UV-A|IDA; GO:0071493|P:cellular response to UV-B|IDA; GO:0090399|P:replicative senescence|IEP',NULL,NULL,NULL,NULL,NULL),(138283,'Experimental MF/BP Leaf Term GOA',NULL,10959,NULL,'GO:0045547|F:dehydrodolichyl diphosphate synthase activity|IDA; GO:0019408|P:dolichol biosynthetic process|IMP; GO:0006489|P:dolichyl diphosphate biosynthetic process|IDA; GO:0051000|P:positive regulation of nitric-oxide synthase activity|IMP',NULL,NULL,NULL,NULL,NULL),(138284,'Experimental MF/BP Leaf Term GOA',NULL,10963,NULL,'GO:0010587|P:miRNA catabolic process|IDA; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IMP; GO:0071050|P:snoRNA polyadenylation|IDA',NULL,NULL,NULL,NULL,NULL),(138285,'Experimental MF/BP Leaf Term GOA',NULL,10965,NULL,'GO:0097003|F:adipokinetic hormone receptor activity|IDA; GO:0055100|F:adiponectin binding|IDA; GO:0033211|P:adiponectin-activated signaling pathway|IDA; GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IMP',NULL,NULL,NULL,NULL,NULL),(138286,'Experimental MF/BP Leaf Term GOA',NULL,10968,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0075522|P:IRES-dependent viral translational initiation|IDA',NULL,NULL,NULL,NULL,NULL),(138287,'Experimental MF/BP Leaf Term GOA',NULL,10977,NULL,'GO:0001735|F:prenylcysteine oxidase activity|IDA; GO:0030327|P:prenylated protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(138288,'Experimental MF/BP Leaf Term GOA',NULL,10981,NULL,'GO:0004115|F:3\',5\'-cyclic-AMP phosphodiesterase activity|IDA; GO:0097011|P:cellular response to granulocyte macrophage colony-stimulating factor stimulus|IDA; GO:0036006|P:cellular response to macrophage colony-stimulating factor stimulus|IDA; GO:0030224|P:monocyte differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(138289,'Experimental MF/BP Leaf Term GOA',NULL,10983,NULL,'GO:1904761|P:negative regulation of myofibroblast differentiation|IMP; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IMP; GO:2000353|P:positive regulation of endothelial cell apoptotic process|IMP; GO:1905461|P:positive regulation of vascular associated smooth muscle cell apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(138290,'Experimental MF/BP Leaf Term GOA',NULL,10986,NULL,'GO:0042834|F:peptidoglycan binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0044278|P:cell wall disruption in other organism|IDA',NULL,NULL,NULL,NULL,NULL),(138291,'Experimental MF/BP Leaf Term GOA',NULL,10988,NULL,'GO:0098505|F:G-rich strand telomeric DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(138292,'Experimental MF/BP Leaf Term GOA',NULL,10999,NULL,'GO:0030506|F:ankyrin binding|IDA; GO:0070634|P:transepithelial ammonium transport|IDA',NULL,NULL,NULL,NULL,NULL),(138293,'Experimental MF/BP Leaf Term GOA',NULL,11001,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IMP; GO:0097494|P:regulation of vesicle size|IMP',NULL,NULL,NULL,NULL,NULL),(138294,'Experimental MF/BP Leaf Term GOA',NULL,11002,NULL,'GO:0019732|P:antifungal humoral response|IMP; GO:0061760|P:antifungal innate immune response|IMP; GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0050830|P:defense response to Gram-positive bacterium|IMP; GO:0001701|P:in utero embryonic development|IEP; GO:0010759|P:positive regulation of macrophage chemotaxis|IMP',NULL,NULL,NULL,NULL,NULL),(138295,'Experimental MF/BP Leaf Term GOA',NULL,11003,NULL,'GO:0031489|F:myosin V binding|IPI; GO:1990182|P:exosomal secretion|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:0090307|P:mitotic spindle assembly|IMP; GO:0036258|P:multivesicular body assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138296,'Experimental MF/BP Leaf Term GOA',NULL,11006,NULL,'GO:0004745|F:retinol dehydrogenase activity|IDA; GO:0042574|P:retinal metabolic process|IDA; GO:0042572|P:retinol metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(138297,'Experimental MF/BP Leaf Term GOA',NULL,11008,NULL,'GO:0007084|P:mitotic nuclear envelope reassembly|IMP',NULL,NULL,NULL,NULL,NULL),(138298,'Experimental MF/BP Leaf Term GOA',NULL,11009,NULL,'GO:1900745|P:positive regulation of p38MAPK cascade|IDA',NULL,NULL,NULL,NULL,NULL),(138299,'Experimental MF/BP Leaf Term GOA',NULL,11011,NULL,'GO:1990459|F:transferrin receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(138300,'Experimental MF/BP Leaf Term GOA',NULL,11012,NULL,'GO:0097371|F:MDM2/MDM4 family protein binding|IPI; GO:0002039|F:p53 binding|IPI; GO:0031571|P:mitotic G1 DNA damage checkpoint|IMP',NULL,NULL,NULL,NULL,NULL),(138301,'Experimental MF/BP Leaf Term GOA',NULL,11013,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0048487|F:beta-tubulin binding|IDA; GO:0043015|F:gamma-tubulin binding|IDA; GO:0005096|F:GTPase activator activity|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0051256|P:mitotic spindle midzone assembly|IDA; GO:0007283|P:spermatogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(138302,'Experimental MF/BP Leaf Term GOA',NULL,11014,NULL,'GO:0050700|F:CARD domain binding|IDA; GO:0089720|F:caspase binding|IPI; GO:0030274|F:LIM domain binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0097202|P:activation of cysteine-type endopeptidase activity|IDA; GO:0071225|P:cellular response to muramyl dipeptide|IDA; GO:0070431|P:nucleotide-binding oligomerization domain containing 2 signaling pathway|IDA; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(138303,'Experimental MF/BP Leaf Term GOA',NULL,11015,NULL,'GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138304,'Experimental MF/BP Leaf Term GOA',NULL,11016,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138305,'Experimental MF/BP Leaf Term GOA',NULL,11018,NULL,'GO:0008083|F:growth factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138306,'Experimental MF/BP Leaf Term GOA',NULL,11019,NULL,'GO:0007094|P:mitotic spindle assembly checkpoint|IMP',NULL,NULL,NULL,NULL,NULL),(138307,'Experimental MF/BP Leaf Term GOA',NULL,11020,NULL,'GO:0007084|P:mitotic nuclear envelope reassembly|IMP',NULL,NULL,NULL,NULL,NULL),(138308,'Experimental MF/BP Leaf Term GOA',NULL,11022,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(138309,'Experimental MF/BP Leaf Term GOA',NULL,11023,NULL,'GO:0002039|F:p53 binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:2001271|P:negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis|IMP; GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IMP; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(138310,'Experimental MF/BP Leaf Term GOA',NULL,11024,NULL,'GO:0031681|F:G-protein beta-subunit binding|IPI; GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(138311,'Experimental MF/BP Leaf Term GOA',NULL,11025,NULL,'GO:0030306|F:ADP-ribosylation factor binding|IPI; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138312,'Experimental MF/BP Leaf Term GOA',NULL,11031,NULL,'GO:1900264|P:positive regulation of DNA-directed DNA polymerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138313,'Experimental MF/BP Leaf Term GOA',NULL,11032,NULL,'GO:0061860|F:DNA clamp unloader activity|IMP; GO:0090618|P:DNA clamp unloading|IMP',NULL,NULL,NULL,NULL,NULL),(138314,'Experimental MF/BP Leaf Term GOA',NULL,11036,NULL,'GO:0031681|F:G-protein beta-subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(138315,'Experimental MF/BP Leaf Term GOA',NULL,11037,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(138316,'Experimental MF/BP Leaf Term GOA',NULL,11040,NULL,'GO:0005096|F:GTPase activator activity|IMP',NULL,NULL,NULL,NULL,NULL),(138317,'Experimental MF/BP Leaf Term GOA',NULL,11041,NULL,'GO:0030506|F:ankyrin binding|IPI; GO:0070634|P:transepithelial ammonium transport|IDA',NULL,NULL,NULL,NULL,NULL),(138318,'Experimental MF/BP Leaf Term GOA',NULL,11046,NULL,'GO:0036310|F:annealing helicase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138319,'Experimental MF/BP Leaf Term GOA',NULL,11050,NULL,'GO:0070412|F:R-SMAD binding|IPI; GO:0071456|P:cellular response to hypoxia|IMP; GO:2000048|P:negative regulation of cell-cell adhesion mediated by cadherin|IDA; GO:0090272|P:negative regulation of fibroblast growth factor production|IDA; GO:0032967|P:positive regulation of collagen biosynthetic process|IDA; GO:2000353|P:positive regulation of endothelial cell apoptotic process|IDA; GO:1901203|P:positive regulation of extracellular matrix assembly|IDA; GO:0003331|P:positive regulation of extracellular matrix constituent secretion|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138320,'Experimental MF/BP Leaf Term GOA',NULL,11054,NULL,'GO:0008321|F:Ral guanyl-nucleotide exchange factor activity|IDA; GO:0032485|P:regulation of Ral protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(138321,'Experimental MF/BP Leaf Term GOA',NULL,11057,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138322,'Experimental MF/BP Leaf Term GOA',NULL,11059,NULL,'GO:0019003|F:GDP binding|IMP; GO:0005525|F:GTP binding|IMP; GO:0000287|F:magnesium ion binding|IMP',NULL,NULL,NULL,NULL,NULL),(138323,'Experimental MF/BP Leaf Term GOA',NULL,11061,NULL,'GO:0030165|F:PDZ domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(138324,'Experimental MF/BP Leaf Term GOA',NULL,11062,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(138325,'Experimental MF/BP Leaf Term GOA',NULL,11064,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(138326,'Experimental MF/BP Leaf Term GOA',NULL,11065,NULL,'GO:0043297|P:apical junction assembly|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138327,'Experimental MF/BP Leaf Term GOA',NULL,11066,NULL,'GO:0048041|P:focal adhesion assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138328,'Experimental MF/BP Leaf Term GOA',NULL,11067,NULL,'GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138329,'Experimental MF/BP Leaf Term GOA',NULL,11068,NULL,'GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138330,'Experimental MF/BP Leaf Term GOA',NULL,11069,NULL,'GO:0032427|F:GBD domain binding|IPI; GO:0005522|F:profilin binding|IPI; GO:0032869|P:cellular response to insulin stimulus|IMP; GO:0051491|P:positive regulation of filopodium assembly|IDA; GO:0046326|P:positive regulation of glucose import|IMP',NULL,NULL,NULL,NULL,NULL),(138331,'Experimental MF/BP Leaf Term GOA',NULL,11070,NULL,'GO:0033227|P:dsRNA transport|IMP; GO:0040010|P:positive regulation of growth rate|IMP; GO:0034138|P:toll-like receptor 3 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138332,'Experimental MF/BP Leaf Term GOA',NULL,11071,NULL,'GO:1900264|P:positive regulation of DNA-directed DNA polymerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138333,'Experimental MF/BP Leaf Term GOA',NULL,11075,NULL,'GO:0001965|F:G-protein alpha-subunit binding|IPI; GO:0005096|F:GTPase activator activity|IDA; GO:0061737|P:leukotriene signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138334,'Experimental MF/BP Leaf Term GOA',NULL,11076,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138335,'Experimental MF/BP Leaf Term GOA',NULL,11078,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(138336,'Experimental MF/BP Leaf Term GOA',NULL,11086,NULL,'GO:0030306|F:ADP-ribosylation factor binding|IPI; GO:0051959|F:dynein light intermediate chain binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0070164|P:negative regulation of adiponectin secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138337,'Experimental MF/BP Leaf Term GOA',NULL,11087,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(138338,'Experimental MF/BP Leaf Term GOA',NULL,11088,NULL,'GO:0004341|F:gluconolactonase activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138339,'Experimental MF/BP Leaf Term GOA',NULL,11093,NULL,'GO:0051959|F:dynein light intermediate chain binding|IPI; GO:0045022|P:early endosome to late endosome transport|IMP; GO:0070676|P:intralumenal vesicle formation|IMP',NULL,NULL,NULL,NULL,NULL),(138340,'Experimental MF/BP Leaf Term GOA',NULL,11095,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1990000|P:amyloid fibril formation|IMP; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0070266|P:necroptotic process|IMP; GO:0097527|P:necroptotic signaling pathway|IMP; GO:0060545|P:positive regulation of necroptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(138341,'Experimental MF/BP Leaf Term GOA',NULL,11097,NULL,'GO:0004745|F:retinol dehydrogenase activity|IDA; GO:0042572|P:retinol metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(138342,'Experimental MF/BP Leaf Term GOA',NULL,11100,NULL,'GO:0034244|P:negative regulation of transcription elongation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(138343,'Experimental MF/BP Leaf Term GOA',NULL,11104,NULL,'GO:1900264|P:positive regulation of DNA-directed DNA polymerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138344,'Experimental MF/BP Leaf Term GOA',NULL,11105,NULL,'GO:0031005|F:filamin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138345,'Experimental MF/BP Leaf Term GOA',NULL,11108,NULL,'GO:0001965|F:G-protein alpha-subunit binding|IPI; GO:0005096|F:GTPase activator activity|IMP',NULL,NULL,NULL,NULL,NULL),(138346,'Experimental MF/BP Leaf Term GOA',NULL,11111,NULL,'GO:0031681|F:G-protein beta-subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(138347,'Experimental MF/BP Leaf Term GOA',NULL,11122,NULL,'GO:0043015|F:gamma-tubulin binding|IDA; GO:0070164|P:negative regulation of adiponectin secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138348,'Experimental MF/BP Leaf Term GOA',NULL,11128,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0042169|F:SH2 domain binding|IPI; GO:0051895|P:negative regulation of focal adhesion assembly|IDA; GO:0035024|P:negative regulation of Rho protein signal transduction|IMP; GO:0051497|P:negative regulation of stress fiber assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138349,'Experimental MF/BP Leaf Term GOA',NULL,11130,NULL,'GO:0031532|P:actin cytoskeleton reorganization|IMP',NULL,NULL,NULL,NULL,NULL),(138350,'Experimental MF/BP Leaf Term GOA',NULL,11132,NULL,'GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP',NULL,NULL,NULL,NULL,NULL),(138351,'Experimental MF/BP Leaf Term GOA',NULL,11134,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0030168|P:platelet activation|IDA; GO:0070527|P:platelet aggregation|IDA',NULL,NULL,NULL,NULL,NULL),(138352,'Experimental MF/BP Leaf Term GOA',NULL,11137,NULL,'GO:0061709|P:reticulophagy|IMP',NULL,NULL,NULL,NULL,NULL),(138353,'Experimental MF/BP Leaf Term GOA',NULL,11138,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138354,'Experimental MF/BP Leaf Term GOA',NULL,11140,NULL,'GO:0030520|P:intracellular estrogen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138355,'Experimental MF/BP Leaf Term GOA',NULL,11141,NULL,'GO:0046982|F:protein heterodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(138356,'Experimental MF/BP Leaf Term GOA',NULL,11145,NULL,'GO:0030506|F:ankyrin binding|IPI',NULL,NULL,NULL,NULL,NULL),(138357,'Experimental MF/BP Leaf Term GOA',NULL,11146,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138358,'Experimental MF/BP Leaf Term GOA',NULL,11149,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IMP',NULL,NULL,NULL,NULL,NULL),(138359,'Experimental MF/BP Leaf Term GOA',NULL,11156,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0030215|F:semaphorin receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(138360,'Experimental MF/BP Leaf Term GOA',NULL,11158,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(138361,'Experimental MF/BP Leaf Term GOA',NULL,11159,NULL,'GO:0034101|P:erythrocyte homeostasis|IMP; GO:0042274|P:ribosomal small subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138362,'Experimental MF/BP Leaf Term GOA',NULL,11162,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(138363,'Experimental MF/BP Leaf Term GOA',NULL,11164,NULL,'GO:0008656|F:cysteine-type endopeptidase activator activity involved in apoptotic process|IDA; GO:0008494|F:translation activator activity|IDA; GO:0006978|P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IDA; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IDA; GO:0031571|P:mitotic G1 DNA damage checkpoint|IMP',NULL,NULL,NULL,NULL,NULL),(138364,'Experimental MF/BP Leaf Term GOA',NULL,11166,NULL,'GO:0002181|P:cytoplasmic translation|IDA; GO:0042274|P:ribosomal small subunit biogenesis|IMP; GO:0042254|P:ribosome biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138365,'Experimental MF/BP Leaf Term GOA',NULL,11167,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(138366,'Experimental MF/BP Leaf Term GOA',NULL,11168,NULL,'GO:0017134|F:fibroblast growth factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(138367,'Experimental MF/BP Leaf Term GOA',NULL,11172,NULL,'GO:0071535|F:RING-like zinc finger domain binding|IPI; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138368,'Experimental MF/BP Leaf Term GOA',NULL,11174,NULL,'GO:0002181|P:cytoplasmic translation|IDA',NULL,NULL,NULL,NULL,NULL),(138369,'Experimental MF/BP Leaf Term GOA',NULL,11176,NULL,'GO:0008022|F:protein C-terminus binding|IDA',NULL,NULL,NULL,NULL,NULL),(138370,'Experimental MF/BP Leaf Term GOA',NULL,11181,NULL,'GO:0001738|P:morphogenesis of a polarized epithelium|IDA',NULL,NULL,NULL,NULL,NULL),(138371,'Experimental MF/BP Leaf Term GOA',NULL,11182,NULL,'GO:0097345|P:mitochondrial outer membrane permeabilization|IMP',NULL,NULL,NULL,NULL,NULL),(138372,'Experimental MF/BP Leaf Term GOA',NULL,11184,NULL,'GO:0001880|P:Mullerian duct regression|IDA',NULL,NULL,NULL,NULL,NULL),(138373,'Experimental MF/BP Leaf Term GOA',NULL,11185,NULL,'GO:0070888|F:E-box binding|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138374,'Experimental MF/BP Leaf Term GOA',NULL,11189,NULL,'GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(138375,'Experimental MF/BP Leaf Term GOA',NULL,11192,NULL,'GO:0061981|F:3-hydroxykynureninase activity|IDA; GO:0030429|F:kynureninase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0019805|P:quinolinate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(138376,'Experimental MF/BP Leaf Term GOA',NULL,11196,NULL,'GO:0035269|P:protein O-linked mannosylation|IDA',NULL,NULL,NULL,NULL,NULL),(138377,'Experimental MF/BP Leaf Term GOA',NULL,11197,NULL,'GO:0050681|F:androgen receptor binding|IDA; GO:0034648|F:histone demethylase activity (H3-dimethyl-K4 specific)|IDA; GO:0032454|F:histone demethylase activity (H3-K9 specific)|IDA; GO:0043426|F:MRF binding|IDA; GO:0002039|F:p53 binding|IPI; GO:0061752|F:telomeric repeat-containing RNA binding|IDA; GO:0071480|P:cellular response to gamma radiation|IMP; GO:0033169|P:histone H3-K9 demethylation|IDA; GO:1902166|P:negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP; GO:0002052|P:positive regulation of neuroblast proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(138378,'Experimental MF/BP Leaf Term GOA',NULL,11200,NULL,'GO:0051864|F:histone demethylase activity (H3-K36 specific)|IDA; GO:0032454|F:histone demethylase activity (H3-K9 specific)|IDA; GO:0070544|P:histone H3-K36 demethylation|IDA; GO:0033169|P:histone H3-K9 demethylation|IDA',NULL,NULL,NULL,NULL,NULL),(138379,'Experimental MF/BP Leaf Term GOA',NULL,11201,NULL,'GO:0050681|F:androgen receptor binding|IPI; GO:0051864|F:histone demethylase activity (H3-K36 specific)|IDA; GO:0032454|F:histone demethylase activity (H3-K9 specific)|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0070544|P:histone H3-K36 demethylation|IDA; GO:0033169|P:histone H3-K9 demethylation|IDA',NULL,NULL,NULL,NULL,NULL),(138380,'Experimental MF/BP Leaf Term GOA',NULL,11202,NULL,'GO:0034648|F:histone demethylase activity (H3-dimethyl-K4 specific)|IDA; GO:0034647|F:histone demethylase activity (H3-trimethyl-K4 specific)|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138381,'Experimental MF/BP Leaf Term GOA',NULL,11203,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138382,'Experimental MF/BP Leaf Term GOA',NULL,11204,NULL,'GO:0050681|F:androgen receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(138383,'Experimental MF/BP Leaf Term GOA',NULL,11206,NULL,'GO:0071558|F:histone demethylase activity (H3-K27 specific)|IMP; GO:0071557|P:histone H3-K27 demethylation|IMP',NULL,NULL,NULL,NULL,NULL),(138384,'Experimental MF/BP Leaf Term GOA',NULL,11207,NULL,'GO:0071558|F:histone demethylase activity (H3-K27 specific)|IDA; GO:0051864|F:histone demethylase activity (H3-K36 specific)|IDA; GO:0032454|F:histone demethylase activity (H3-K9 specific)|IDA; GO:0035575|F:histone demethylase activity (H4-K20 specific)|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0071557|P:histone H3-K27 demethylation|IDA; GO:0070544|P:histone H3-K36 demethylation|IDA; GO:0033169|P:histone H3-K9 demethylation|IDA; GO:0035574|P:histone H4-K20 demethylation|IDA',NULL,NULL,NULL,NULL,NULL),(138385,'Experimental MF/BP Leaf Term GOA',NULL,11208,NULL,'GO:0004692|F:cGMP-dependent protein kinase activity|IDA; GO:1904753|P:negative regulation of vascular associated smooth muscle cell migration|IDA; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(138386,'Experimental MF/BP Leaf Term GOA',NULL,11222,NULL,'GO:0030165|F:PDZ domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(138387,'Experimental MF/BP Leaf Term GOA',NULL,11223,NULL,'GO:0035987|P:endodermal cell differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(138388,'Experimental MF/BP Leaf Term GOA',NULL,11224,NULL,'GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(138389,'Experimental MF/BP Leaf Term GOA',NULL,11229,NULL,'GO:0031404|F:chloride ion binding|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138390,'Experimental MF/BP Leaf Term GOA',NULL,11235,NULL,'GO:0019863|F:IgE binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0048245|P:eosinophil chemotaxis|IDA; GO:0048246|P:macrophage chemotaxis|IDA; GO:0002548|P:monocyte chemotaxis|IDA; GO:0030593|P:neutrophil chemotaxis|IDA; GO:0090073|P:positive regulation of protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138391,'Experimental MF/BP Leaf Term GOA',NULL,11248,NULL,'GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0045454|P:cell redox homeostasis|IMP; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(138392,'Experimental MF/BP Leaf Term GOA',NULL,11249,NULL,'GO:0004743|F:pyruvate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138393,'Experimental MF/BP Leaf Term GOA',NULL,11250,NULL,'GO:0004743|F:pyruvate kinase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138394,'Experimental MF/BP Leaf Term GOA',NULL,11257,NULL,'GO:0000082|P:G1/S transition of mitotic cell cycle|IMP',NULL,NULL,NULL,NULL,NULL),(138395,'Experimental MF/BP Leaf Term GOA',NULL,11258,NULL,'GO:0031532|P:actin cytoskeleton reorganization|IMP',NULL,NULL,NULL,NULL,NULL),(138396,'Experimental MF/BP Leaf Term GOA',NULL,11266,NULL,'GO:0005524|F:ATP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138397,'Experimental MF/BP Leaf Term GOA',NULL,11275,NULL,'GO:0090160|P:Golgi to lysosome transport|IMP; GO:0008626|P:granzyme-mediated apoptotic signaling pathway|IMP; GO:0043323|P:positive regulation of natural killer cell degranulation|IMP',NULL,NULL,NULL,NULL,NULL),(138398,'Experimental MF/BP Leaf Term GOA',NULL,11276,NULL,'GO:0008143|F:poly(A) binding|IDA',NULL,NULL,NULL,NULL,NULL),(138399,'Experimental MF/BP Leaf Term GOA',NULL,11277,NULL,'GO:0061684|P:chaperone-mediated autophagy|IMP; GO:1905146|P:lysosomal protein catabolic process|IMP; GO:0061740|P:protein targeting to lysosome involved in chaperone-mediated autophagy|IMP',NULL,NULL,NULL,NULL,NULL),(138400,'Experimental MF/BP Leaf Term GOA',NULL,11278,NULL,'GO:0005524|F:ATP binding|IDA; GO:0030331|F:estrogen receptor binding|IPI; GO:0000287|F:magnesium ion binding|IDA; GO:0000086|P:G2/M transition of mitotic cell cycle|IDA; GO:0035329|P:hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(138401,'Experimental MF/BP Leaf Term GOA',NULL,11282,NULL,'GO:0047560|F:3-dehydrosphinganine reductase activity|IDA; GO:0006666|P:3-keto-sphinganine metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(138402,'Experimental MF/BP Leaf Term GOA',NULL,11283,NULL,'GO:0004385|F:guanylate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138403,'Experimental MF/BP Leaf Term GOA',NULL,11287,NULL,'GO:0071889|F:14-3-3 protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(138404,'Experimental MF/BP Leaf Term GOA',NULL,11290,NULL,'GO:0051010|F:microtubule plus-end binding|IDA; GO:0007080|P:mitotic metaphase plate congression|IMP',NULL,NULL,NULL,NULL,NULL),(138405,'Experimental MF/BP Leaf Term GOA',NULL,11292,NULL,'GO:0035331|P:negative regulation of hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(138406,'Experimental MF/BP Leaf Term GOA',NULL,11294,NULL,'GO:0007080|P:mitotic metaphase plate congression|IMP',NULL,NULL,NULL,NULL,NULL),(138407,'Experimental MF/BP Leaf Term GOA',NULL,11299,NULL,'GO:0022617|P:extracellular matrix disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(138408,'Experimental MF/BP Leaf Term GOA',NULL,11303,NULL,'GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(138409,'Experimental MF/BP Leaf Term GOA',NULL,11304,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138410,'Experimental MF/BP Leaf Term GOA',NULL,11308,NULL,'GO:0023024|F:MHC class I protein complex binding|IPI; GO:0023030|F:MHC class Ib protein binding, via antigen binding groove|IPI; GO:1990405|F:protein antigen binding|IDA',NULL,NULL,NULL,NULL,NULL),(138411,'Experimental MF/BP Leaf Term GOA',NULL,11310,NULL,'GO:0071949|F:FAD binding|IDA; GO:0004502|F:kynurenine 3-monooxygenase activity|IDA; GO:0016174|F:NAD(P)H oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138412,'Experimental MF/BP Leaf Term GOA',NULL,11320,NULL,'GO:0042633|P:hair cycle|IDA',NULL,NULL,NULL,NULL,NULL),(138413,'Experimental MF/BP Leaf Term GOA',NULL,11322,NULL,'GO:0042633|P:hair cycle|IDA',NULL,NULL,NULL,NULL,NULL),(138414,'Experimental MF/BP Leaf Term GOA',NULL,11323,NULL,'GO:0042633|P:hair cycle|IDA',NULL,NULL,NULL,NULL,NULL),(138415,'Experimental MF/BP Leaf Term GOA',NULL,11324,NULL,'GO:0042633|P:hair cycle|IDA',NULL,NULL,NULL,NULL,NULL),(138416,'Experimental MF/BP Leaf Term GOA',NULL,11327,NULL,'GO:0004699|F:calcium-independent protein kinase C activity|EXP; GO:1904385|P:cellular response to angiotensin|IDA; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0032079|P:positive regulation of endodeoxyribonuclease activity|IMP; GO:2000753|P:positive regulation of glucosylceramide catabolic process|IMP; GO:1900163|P:positive regulation of phospholipid scramblase activity|IMP; GO:0042307|P:positive regulation of protein import into nucleus|IMP; GO:2000755|P:positive regulation of sphingomyelin catabolic process|IMP; GO:0032930|P:positive regulation of superoxide anion generation|IMP',NULL,NULL,NULL,NULL,NULL),(138417,'Experimental MF/BP Leaf Term GOA',NULL,11329,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IDA; GO:2000491|P:positive regulation of hepatic stellate cell activation|IMP',NULL,NULL,NULL,NULL,NULL),(138418,'Experimental MF/BP Leaf Term GOA',NULL,11333,NULL,'GO:0001784|F:phosphotyrosine residue binding|IMP; GO:0030593|P:neutrophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(138419,'Experimental MF/BP Leaf Term GOA',NULL,11334,NULL,'GO:0042633|P:hair cycle|IDA',NULL,NULL,NULL,NULL,NULL),(138420,'Experimental MF/BP Leaf Term GOA',NULL,11335,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(138421,'Experimental MF/BP Leaf Term GOA',NULL,11340,NULL,'GO:0050681|F:androgen receptor binding|IDA; GO:0035403|F:histone kinase activity (H3-T6 specific)|IDA; GO:0005080|F:protein kinase C binding|IPI; GO:0035408|P:histone H3-T6 phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(138422,'Experimental MF/BP Leaf Term GOA',NULL,11347,NULL,'GO:0005080|F:protein kinase C binding|IPI; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IMP; GO:0032793|P:positive regulation of CREB transcription factor activity|IGI; GO:0038033|P:positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway|IMP; GO:1901727|P:positive regulation of histone deacetylase activity|IGI; GO:0030949|P:positive regulation of vascular endothelial growth factor receptor signaling pathway|IMP; GO:0089700|P:protein kinase D signaling|IGI; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138423,'Experimental MF/BP Leaf Term GOA',NULL,11350,NULL,'GO:2001031|P:positive regulation of cellular glucuronidation|IMP',NULL,NULL,NULL,NULL,NULL),(138424,'Experimental MF/BP Leaf Term GOA',NULL,11355,NULL,'GO:0006978|P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IMP',NULL,NULL,NULL,NULL,NULL),(138425,'Experimental MF/BP Leaf Term GOA',NULL,11357,NULL,'GO:0016807|F:cysteine-type carboxypeptidase activity|IDA; GO:0071795|F:K11-linked polyubiquitin modification-dependent protein binding|IDA; GO:0036435|F:K48-linked polyubiquitin modification-dependent protein binding|IDA; GO:0071796|F:K6-linked polyubiquitin modification-dependent protein binding|IDA; GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA; GO:1990380|F:Lys48-specific deubiquitinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138426,'Experimental MF/BP Leaf Term GOA',NULL,11358,NULL,'GO:0016807|F:cysteine-type carboxypeptidase activity|IDA; GO:1990380|F:Lys48-specific deubiquitinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138427,'Experimental MF/BP Leaf Term GOA',NULL,11359,NULL,'GO:0051382|P:kinetochore assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138428,'Experimental MF/BP Leaf Term GOA',NULL,11362,NULL,'GO:0070301|P:cellular response to hydrogen peroxide|IMP; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IMP; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IGI; GO:0034115|P:negative regulation of heterotypic cell-cell adhesion|IGI',NULL,NULL,NULL,NULL,NULL),(138429,'Experimental MF/BP Leaf Term GOA',NULL,11364,NULL,'GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138430,'Experimental MF/BP Leaf Term GOA',NULL,11365,NULL,'GO:0046982|F:protein heterodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(138431,'Experimental MF/BP Leaf Term GOA',NULL,11366,NULL,'GO:0032212|P:positive regulation of telomere maintenance via telomerase|IDA; GO:0003400|P:regulation of COPII vesicle coating|IMP',NULL,NULL,NULL,NULL,NULL),(138432,'Experimental MF/BP Leaf Term GOA',NULL,11373,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0004705|F:JUN kinase activity|IDA; GO:0071276|P:cellular response to cadmium ion|IMP; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0007254|P:JNK cascade|IDA; GO:0007258|P:JUN phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(138433,'Experimental MF/BP Leaf Term GOA',NULL,11374,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0031117|P:positive regulation of microtubule depolymerization|IMP',NULL,NULL,NULL,NULL,NULL),(138434,'Experimental MF/BP Leaf Term GOA',NULL,11375,NULL,'GO:0060285|P:cilium-dependent cell motility|IMP',NULL,NULL,NULL,NULL,NULL),(138435,'Experimental MF/BP Leaf Term GOA',NULL,11379,NULL,'GO:0005524|F:ATP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138436,'Experimental MF/BP Leaf Term GOA',NULL,11380,NULL,'GO:0003094|P:glomerular filtration|IMP',NULL,NULL,NULL,NULL,NULL),(138437,'Experimental MF/BP Leaf Term GOA',NULL,11389,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0030574|P:collagen catabolic process|IDA; GO:0022617|P:extracellular matrix disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(138438,'Experimental MF/BP Leaf Term GOA',NULL,11390,NULL,'GO:0070006|F:metalloaminopeptidase activity|IDA; GO:0035987|P:endodermal cell differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(138439,'Experimental MF/BP Leaf Term GOA',NULL,11393,NULL,'GO:0042169|F:SH2 domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(138440,'Experimental MF/BP Leaf Term GOA',NULL,11397,NULL,'GO:0034186|F:apolipoprotein A-I binding|IPI; GO:0004607|F:phosphatidylcholine-sterol O-acyltransferase activity|IDA; GO:0034435|P:cholesterol esterification|IDA; GO:0042632|P:cholesterol homeostasis|IDA; GO:0043691|P:reverse cholesterol transport|IDA; GO:0034372|P:very-low-density lipoprotein particle remodeling|IDA',NULL,NULL,NULL,NULL,NULL),(138441,'Experimental MF/BP Leaf Term GOA',NULL,11398,NULL,'GO:0004459|F:L-lactate dehydrogenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138442,'Experimental MF/BP Leaf Term GOA',NULL,11399,NULL,'GO:0004459|F:L-lactate dehydrogenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138443,'Experimental MF/BP Leaf Term GOA',NULL,11401,NULL,'GO:0030169|F:low-density lipoprotein particle binding|IMP; GO:0005041|F:low-density lipoprotein particle receptor activity|IDA; GO:0030229|F:very-low-density lipoprotein particle receptor activity|IDA; GO:0071404|P:cellular response to low-density lipoprotein particle stimulus|IMP; GO:0042632|P:cholesterol homeostasis|IMP; GO:0070508|P:cholesterol import|IMP; GO:0030299|P:intestinal cholesterol absorption|IMP; GO:0007616|P:long-term memory|IGI; GO:0034383|P:low-density lipoprotein particle clearance|IMP; GO:0090118|P:receptor-mediated endocytosis involved in cholesterol transport|IMP',NULL,NULL,NULL,NULL,NULL),(138444,'Experimental MF/BP Leaf Term GOA',NULL,11402,NULL,'GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0071225|P:cellular response to muramyl dipeptide|IMP',NULL,NULL,NULL,NULL,NULL),(138445,'Experimental MF/BP Leaf Term GOA',NULL,11403,NULL,'GO:0030395|F:lactose binding|IDA',NULL,NULL,NULL,NULL,NULL),(138446,'Experimental MF/BP Leaf Term GOA',NULL,11421,NULL,'GO:0035987|P:endodermal cell differentiation|IEP; GO:0021812|P:neuronal-glial interaction involved in cerebral cortex radial glia guided migration|IMP; GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(138447,'Experimental MF/BP Leaf Term GOA',NULL,11422,NULL,'GO:0008266|F:poly(U) RNA binding|IMP; GO:1990825|F:sequence-specific mRNA binding|IMP; GO:0075522|P:IRES-dependent viral translational initiation|IDA; GO:0071045|P:nuclear histone mRNA catabolic process|IMP; GO:1903608|P:protein localization to cytoplasmic stress granule|IDA; GO:0001682|P:tRNA 5\'-leader removal|IGI',NULL,NULL,NULL,NULL,NULL),(138448,'Experimental MF/BP Leaf Term GOA',NULL,11423,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IDA; GO:0035329|P:hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(138449,'Experimental MF/BP Leaf Term GOA',NULL,11424,NULL,'GO:0004252|F:serine-type endopeptidase activity|EXP; GO:0071276|P:cellular response to cadmium ion|IDA; GO:0035987|P:endodermal cell differentiation|IEP; GO:2001268|P:negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway|IMP; GO:0051549|P:positive regulation of keratinocyte migration|IMP; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IMP; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(138450,'Experimental MF/BP Leaf Term GOA',NULL,11426,NULL,'GO:0001530|F:lipopolysaccharide binding|IDA; GO:0070891|F:lipoteichoic acid binding|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071223|P:cellular response to lipoteichoic acid|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IDA; GO:0034145|P:positive regulation of toll-like receptor 4 signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138451,'Experimental MF/BP Leaf Term GOA',NULL,11430,NULL,'GO:0030274|F:LIM domain binding|IPI; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(138452,'Experimental MF/BP Leaf Term GOA',NULL,11431,NULL,'GO:0030331|F:estrogen receptor binding|IPI; GO:1905168|P:positive regulation of double-strand break repair via homologous recombination|IDA',NULL,NULL,NULL,NULL,NULL),(138453,'Experimental MF/BP Leaf Term GOA',NULL,11439,NULL,'GO:0050861|P:positive regulation of B cell receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138454,'Experimental MF/BP Leaf Term GOA',NULL,11452,NULL,'GO:0005524|F:ATP binding|IDA; GO:0043990|P:histone H2A-S1 phosphorylation|IDA; GO:0043988|P:histone H3-S28 phosphorylation|IMP; GO:0070498|P:interleukin-1-mediated signaling pathway|IMP; GO:0033129|P:positive regulation of histone phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(138455,'Experimental MF/BP Leaf Term GOA',NULL,11465,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:1990825|F:sequence-specific mRNA binding|IDA; GO:0032967|P:positive regulation of collagen biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(138456,'Experimental MF/BP Leaf Term GOA',NULL,11475,NULL,'GO:0008574|F:ATP-dependent microtubule motor activity, plus-end-directed|IDA; GO:0051010|F:microtubule plus-end binding|IDA; GO:0070463|F:tubulin-dependent ATPase activity|IDA; GO:0007080|P:mitotic metaphase plate congression|IDA',NULL,NULL,NULL,NULL,NULL),(138457,'Experimental MF/BP Leaf Term GOA',NULL,11478,NULL,'GO:0061952|P:midbody abscission|IMP',NULL,NULL,NULL,NULL,NULL),(138458,'Experimental MF/BP Leaf Term GOA',NULL,11481,NULL,'GO:0090307|P:mitotic spindle assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138459,'Experimental MF/BP Leaf Term GOA',NULL,11482,NULL,'GO:0051256|P:mitotic spindle midzone assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138460,'Experimental MF/BP Leaf Term GOA',NULL,11483,NULL,'GO:0046603|P:negative regulation of mitotic centrosome separation|IDA',NULL,NULL,NULL,NULL,NULL),(138461,'Experimental MF/BP Leaf Term GOA',NULL,11484,NULL,'GO:0007080|P:mitotic metaphase plate congression|IMP; GO:0090307|P:mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138462,'Experimental MF/BP Leaf Term GOA',NULL,11485,NULL,'GO:0045218|P:zonula adherens maintenance|IMP',NULL,NULL,NULL,NULL,NULL),(138463,'Experimental MF/BP Leaf Term GOA',NULL,11490,NULL,'GO:0048208|P:COPII vesicle coating|IMP; GO:0006888|P:ER to Golgi vesicle-mediated transport|IDA; GO:0014029|P:neural crest formation|IMP',NULL,NULL,NULL,NULL,NULL),(138464,'Experimental MF/BP Leaf Term GOA',NULL,11491,NULL,'GO:0071630|P:nuclear protein quality control by the ubiquitin-proteasome system|IDA',NULL,NULL,NULL,NULL,NULL),(138465,'Experimental MF/BP Leaf Term GOA',NULL,11494,NULL,'GO:0019964|F:interferon-gamma binding|IDA; GO:0006895|P:Golgi to endosome transport|IMP; GO:1990390|P:protein K33-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(138466,'Experimental MF/BP Leaf Term GOA',NULL,11495,NULL,'GO:0071889|F:14-3-3 protein binding|IPI; GO:0071233|P:cellular response to leucine|IMP; GO:0000070|P:mitotic sister chromatid segregation|IMP; GO:0007094|P:mitotic spindle assembly checkpoint|IMP; GO:1904263|P:positive regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(138467,'Experimental MF/BP Leaf Term GOA',NULL,11497,NULL,'GO:0051865|P:protein autoubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(138468,'Experimental MF/BP Leaf Term GOA',NULL,11499,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138469,'Experimental MF/BP Leaf Term GOA',NULL,11506,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138470,'Experimental MF/BP Leaf Term GOA',NULL,11507,NULL,'GO:0004252|F:serine-type endopeptidase activity|IMP; GO:0002778|P:antibacterial peptide production|IDA',NULL,NULL,NULL,NULL,NULL),(138471,'Experimental MF/BP Leaf Term GOA',NULL,11508,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138472,'Experimental MF/BP Leaf Term GOA',NULL,11512,NULL,'GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IMP; GO:0032793|P:positive regulation of CREB transcription factor activity|IGI; GO:0038033|P:positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway|IMP; GO:1901727|P:positive regulation of histone deacetylase activity|IGI; GO:0089700|P:protein kinase D signaling|IGI',NULL,NULL,NULL,NULL,NULL),(138473,'Experimental MF/BP Leaf Term GOA',NULL,11513,NULL,'GO:0008143|F:poly(A) binding|IDA; GO:0008266|F:poly(U) RNA binding|IDA; GO:0005070|F:SH3/SH2 adaptor activity|IPI; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(138474,'Experimental MF/BP Leaf Term GOA',NULL,11514,NULL,'GO:0030507|F:spectrin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138475,'Experimental MF/BP Leaf Term GOA',NULL,11515,NULL,'GO:0051256|P:mitotic spindle midzone assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138476,'Experimental MF/BP Leaf Term GOA',NULL,11516,NULL,'GO:0004496|F:mevalonate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138477,'Experimental MF/BP Leaf Term GOA',NULL,11524,NULL,'GO:0035853|P:chromosome passenger complex localization to spindle midzone|IMP',NULL,NULL,NULL,NULL,NULL),(138478,'Experimental MF/BP Leaf Term GOA',NULL,11527,NULL,'GO:0051919|P:positive regulation of fibrinolysis|IDA',NULL,NULL,NULL,NULL,NULL),(138479,'Experimental MF/BP Leaf Term GOA',NULL,11532,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138480,'Experimental MF/BP Leaf Term GOA',NULL,11533,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138481,'Experimental MF/BP Leaf Term GOA',NULL,11536,NULL,'GO:2000353|P:positive regulation of endothelial cell apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(138482,'Experimental MF/BP Leaf Term GOA',NULL,11540,NULL,'GO:0042605|F:peptide antigen binding|IPI',NULL,NULL,NULL,NULL,NULL),(138483,'Experimental MF/BP Leaf Term GOA',NULL,11548,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0019871|F:sodium channel inhibitor activity|IDA; GO:2000009|P:negative regulation of protein localization to cell surface|IDA; GO:1903861|P:positive regulation of dendrite extension|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(138484,'Experimental MF/BP Leaf Term GOA',NULL,11551,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0045116|P:protein neddylation|IDA',NULL,NULL,NULL,NULL,NULL),(138485,'Experimental MF/BP Leaf Term GOA',NULL,11553,NULL,'GO:0050700|F:CARD domain binding|IPI; GO:0071360|P:cellular response to exogenous dsRNA|IMP; GO:0071651|P:positive regulation of chemokine (C-C motif) ligand 5 production|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IDA; GO:1902741|P:positive regulation of interferon-alpha secretion|IMP; GO:0035549|P:positive regulation of interferon-beta secretion|IMP; GO:2000778|P:positive regulation of interleukin-6 secretion|IMP; GO:0071660|P:positive regulation of IP-10 production|IDA; GO:0033160|P:positive regulation of protein import into nucleus, translocation|IDA; GO:1904469|P:positive regulation of tumor necrosis factor secretion|IMP; GO:0060340|P:positive regulation of type I interferon-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138486,'Experimental MF/BP Leaf Term GOA',NULL,11556,NULL,'GO:0019075|P:virus maturation|IMP',NULL,NULL,NULL,NULL,NULL),(138487,'Experimental MF/BP Leaf Term GOA',NULL,11558,NULL,'GO:0004484|F:mRNA guanylyltransferase activity|IDA; GO:0050355|F:triphosphatase activity|IDA; GO:0006370|P:7-methylguanosine mRNA capping|IDA',NULL,NULL,NULL,NULL,NULL),(138488,'Experimental MF/BP Leaf Term GOA',NULL,11564,NULL,'GO:0008022|F:protein C-terminus binding|IMP; GO:0042803|F:protein homodimerization activity|IPI; GO:0007094|P:mitotic spindle assembly checkpoint|IDA; GO:1904667|P:negative regulation of ubiquitin protein ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138489,'Experimental MF/BP Leaf Term GOA',NULL,11565,NULL,'GO:0070975|F:FHA domain binding|IPI; GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(138490,'Experimental MF/BP Leaf Term GOA',NULL,11566,NULL,'GO:0008432|F:JUN kinase binding|IDA; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:2000048|P:negative regulation of cell-cell adhesion mediated by cadherin|IMP; GO:0010944|P:negative regulation of transcription by competitive promoter binding|IMP; GO:1904667|P:negative regulation of ubiquitin protein ligase activity|IDA; GO:2001034|P:positive regulation of double-strand break repair via nonhomologous end joining|IDA',NULL,NULL,NULL,NULL,NULL),(138491,'Experimental MF/BP Leaf Term GOA',NULL,11570,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138492,'Experimental MF/BP Leaf Term GOA',NULL,11572,NULL,'GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(138493,'Experimental MF/BP Leaf Term GOA',NULL,11574,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0046966|F:thyroid hormone receptor binding|IDA; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(138494,'Experimental MF/BP Leaf Term GOA',NULL,11575,NULL,'GO:0030331|F:estrogen receptor binding|IPI; GO:0050693|F:LBD domain binding|IPI; GO:0036033|F:mediator complex binding|IDA; GO:0042975|F:peroxisome proliferator activated receptor binding|IPI; GO:0000979|F:RNA polymerase II core promoter sequence-specific DNA binding|IDA; GO:0046966|F:thyroid hormone receptor binding|IDA; GO:0030375|F:thyroid hormone receptor coactivator activity|IMP; GO:0042809|F:vitamin D receptor binding|IPI; GO:0006702|P:androgen biosynthetic process|IMP; GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IDA; GO:0010839|P:negative regulation of keratinocyte proliferation|IMP; GO:0002154|P:thyroid hormone mediated signaling pathway|IMP; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(138495,'Experimental MF/BP Leaf Term GOA',NULL,11577,NULL,'GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138496,'Experimental MF/BP Leaf Term GOA',NULL,11579,NULL,'GO:0046966|F:thyroid hormone receptor binding|IDA; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(138497,'Experimental MF/BP Leaf Term GOA',NULL,11588,NULL,'GO:0002039|F:p53 binding|IPI; GO:0071456|P:cellular response to hypoxia|IMP; GO:0007095|P:mitotic G2 DNA damage checkpoint|IMP; GO:0014067|P:negative regulation of phosphatidylinositol 3-kinase signaling|IMP; GO:0051898|P:negative regulation of protein kinase B signaling|IMP; GO:1901837|P:negative regulation of transcription of nucleolar large rRNA by RNA polymerase I|IMP; GO:0050821|P:protein stabilization|IMP; GO:1903715|P:regulation of aerobic respiration|IMP',NULL,NULL,NULL,NULL,NULL),(138498,'Experimental MF/BP Leaf Term GOA',NULL,11589,NULL,'GO:1990226|F:histone methyltransferase binding|IPI',NULL,NULL,NULL,NULL,NULL),(138499,'Experimental MF/BP Leaf Term GOA',NULL,11590,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138500,'Experimental MF/BP Leaf Term GOA',NULL,11591,NULL,'GO:0003680|F:AT DNA binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0000983|F:transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding|IDA; GO:0071374|P:cellular response to parathyroid hormone stimulus|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:1904753|P:negative regulation of vascular associated smooth muscle cell migration|IDA; GO:1905563|P:negative regulation of vascular endothelial cell proliferation|IGI; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(138501,'Experimental MF/BP Leaf Term GOA',NULL,11593,NULL,'GO:0061371|P:determination of heart left/right asymmetry|IMP; GO:0055113|P:epiboly involved in gastrulation with mouth forming second|IMP',NULL,NULL,NULL,NULL,NULL),(138502,'Experimental MF/BP Leaf Term GOA',NULL,11597,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138503,'Experimental MF/BP Leaf Term GOA',NULL,11598,NULL,'GO:0005524|F:ATP binding|IMP; GO:1990275|F:preribosome binding|IDA; GO:0042273|P:ribosomal large subunit biogenesis|IDA; GO:0042254|P:ribosome biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138504,'Experimental MF/BP Leaf Term GOA',NULL,11603,NULL,'GO:0004792|F:thiosulfate sulfurtransferase activity|IMP; GO:0042292|F:URM1 activating enzyme activity|IDA; GO:0018192|P:enzyme active site formation via cysteine modification to L-cysteine persulfide|IDA',NULL,NULL,NULL,NULL,NULL),(138505,'Experimental MF/BP Leaf Term GOA',NULL,11606,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:2000010|P:positive regulation of protein localization to cell surface|IDA; GO:0098905|P:regulation of bundle of His cell action potential|IMP; GO:0098909|P:regulation of cardiac muscle cell action potential involved in regulation of contraction|IMP; GO:0090226|P:regulation of microtubule nucleation by Ran protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(138506,'Experimental MF/BP Leaf Term GOA',NULL,11609,NULL,'GO:0003846|F:2-acylglycerol O-acyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138507,'Experimental MF/BP Leaf Term GOA',NULL,11612,NULL,'GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(138508,'Experimental MF/BP Leaf Term GOA',NULL,11615,NULL,'GO:0032575|F:ATP-dependent 5\'-3\' RNA helicase activity|IDA; GO:0061158|P:3\'-UTR-mediated mRNA destabilization|IDA; GO:0035195|P:gene silencing by miRNA|IMP; GO:0035279|P:mRNA cleavage involved in gene silencing by miRNA|IDA; GO:0010526|P:negative regulation of transposition, RNA-mediated|IDA',NULL,NULL,NULL,NULL,NULL),(138509,'Experimental MF/BP Leaf Term GOA',NULL,11616,NULL,'GO:0015349|F:thyroid hormone transmembrane transporter activity|IMP; GO:0070327|P:thyroid hormone transport|IMP',NULL,NULL,NULL,NULL,NULL),(138510,'Experimental MF/BP Leaf Term GOA',NULL,11619,NULL,'GO:0010730|P:negative regulation of hydrogen peroxide biosynthetic process|IDA; GO:1901029|P:negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138511,'Experimental MF/BP Leaf Term GOA',NULL,11646,NULL,'GO:0051087|F:chaperone binding|IPI',NULL,NULL,NULL,NULL,NULL),(138512,'Experimental MF/BP Leaf Term GOA',NULL,11649,NULL,'GO:0006627|P:protein processing involved in protein targeting to mitochondrion|IMP',NULL,NULL,NULL,NULL,NULL),(138513,'Experimental MF/BP Leaf Term GOA',NULL,11653,NULL,'GO:0001730|F:2\'-5\'-oligoadenylate synthetase activity|IDA; GO:0005524|F:ATP binding|IMP',NULL,NULL,NULL,NULL,NULL),(138514,'Experimental MF/BP Leaf Term GOA',NULL,11658,NULL,'GO:0042826|F:histone deacetylase binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IDA',NULL,NULL,NULL,NULL,NULL),(138515,'Experimental MF/BP Leaf Term GOA',NULL,11660,NULL,'GO:0023041|P:neuronal signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(138516,'Experimental MF/BP Leaf Term GOA',NULL,11662,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0050321|F:tau-protein kinase activity|IMP',NULL,NULL,NULL,NULL,NULL),(138517,'Experimental MF/BP Leaf Term GOA',NULL,11669,NULL,'GO:0046966|F:thyroid hormone receptor binding|IDA; GO:0030375|F:thyroid hormone receptor coactivator activity|IDA; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(138518,'Experimental MF/BP Leaf Term GOA',NULL,11674,NULL,'GO:0046965|F:retinoid X receptor binding|IPI; GO:2001178|P:positive regulation of mediator complex assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138519,'Experimental MF/BP Leaf Term GOA',NULL,11676,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0007512|P:adult heart development|IEP; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IGI',NULL,NULL,NULL,NULL,NULL),(138520,'Experimental MF/BP Leaf Term GOA',NULL,11678,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:1900625|P:positive regulation of monocyte aggregation|IMP; GO:1904754|P:positive regulation of vascular associated smooth muscle cell migration|IGI; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IGI',NULL,NULL,NULL,NULL,NULL),(138521,'Experimental MF/BP Leaf Term GOA',NULL,11679,NULL,'GO:0008455|F:alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138522,'Experimental MF/BP Leaf Term GOA',NULL,11680,NULL,'GO:0047372|F:acylglycerol lipase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(138523,'Experimental MF/BP Leaf Term GOA',NULL,11681,NULL,'GO:0006264|P:mitochondrial DNA replication|IMP',NULL,NULL,NULL,NULL,NULL),(138524,'Experimental MF/BP Leaf Term GOA',NULL,11682,NULL,'GO:0030506|F:ankyrin binding|IDA; GO:0045162|P:clustering of voltage-gated sodium channels|IDA',NULL,NULL,NULL,NULL,NULL),(138525,'Experimental MF/BP Leaf Term GOA',NULL,11683,NULL,'GO:0042407|P:cristae formation|IMP',NULL,NULL,NULL,NULL,NULL),(138526,'Experimental MF/BP Leaf Term GOA',NULL,11686,NULL,'GO:0004167|F:dopachrome isomerase activity|IDA; GO:0050178|F:phenylpyruvate tautomerase activity|IDA; GO:0071157|P:negative regulation of cell cycle arrest|IDA; GO:1902166|P:negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IDA; GO:0010760|P:negative regulation of macrophage chemotaxis|IDA; GO:0030890|P:positive regulation of B cell proliferation|IDA; GO:0010739|P:positive regulation of protein kinase A signaling|IDA; GO:0070207|P:protein homotrimerization|IPI',NULL,NULL,NULL,NULL,NULL),(138527,'Experimental MF/BP Leaf Term GOA',NULL,11688,NULL,'GO:0070300|F:phosphatidic acid binding|IDA; GO:0097320|P:plasma membrane tubulation|IDA; GO:0032458|P:slow endocytic recycling|IMP',NULL,NULL,NULL,NULL,NULL),(138528,'Experimental MF/BP Leaf Term GOA',NULL,11689,NULL,'GO:0090141|P:positive regulation of mitochondrial fission|IDA',NULL,NULL,NULL,NULL,NULL),(138529,'Experimental MF/BP Leaf Term GOA',NULL,11691,NULL,'GO:0008270|F:zinc ion binding|IMP; GO:0060309|P:elastin catabolic process|IDA; GO:1904905|P:negative regulation of endothelial cell-matrix adhesion via fibronectin|IDA; GO:0060054|P:positive regulation of epithelial cell proliferation involved in wound healing|IDA; GO:0035313|P:wound healing, spreading of epidermal cells|IDA',NULL,NULL,NULL,NULL,NULL),(138530,'Experimental MF/BP Leaf Term GOA',NULL,11692,NULL,'GO:0008817|F:cob(I)yrinic acid a,c-diamide adenosyltransferase activity|IDA; GO:0031419|F:cobalamin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138531,'Experimental MF/BP Leaf Term GOA',NULL,11704,NULL,'GO:0030366|F:molybdopterin synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138532,'Experimental MF/BP Leaf Term GOA',NULL,11707,NULL,'GO:0008265|F:Mo-molybdopterin cofactor sulfurase activity|IMP',NULL,NULL,NULL,NULL,NULL),(138533,'Experimental MF/BP Leaf Term GOA',NULL,11709,NULL,'GO:0052381|F:tRNA dimethylallyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138534,'Experimental MF/BP Leaf Term GOA',NULL,11722,NULL,'GO:0043610|P:regulation of carbohydrate utilization|IDA',NULL,NULL,NULL,NULL,NULL),(138535,'Experimental MF/BP Leaf Term GOA',NULL,11729,NULL,'GO:0030165|F:PDZ domain binding|IDA; GO:0043539|F:protein serine/threonine kinase activator activity|IDA; GO:0097110|F:scaffold protein binding|IPI; GO:0070371|P:ERK1 and ERK2 cascade|IMP',NULL,NULL,NULL,NULL,NULL),(138536,'Experimental MF/BP Leaf Term GOA',NULL,11731,NULL,'GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IMP; GO:0038066|P:p38MAPK cascade|IMP',NULL,NULL,NULL,NULL,NULL),(138537,'Experimental MF/BP Leaf Term GOA',NULL,11734,NULL,'GO:0005524|F:ATP binding|IDA; GO:0031435|F:mitogen-activated protein kinase kinase kinase binding|IPI; GO:0007257|P:activation of JUN kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138538,'Experimental MF/BP Leaf Term GOA',NULL,11737,NULL,'GO:0106137|F:IkappaB kinase complex binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0007254|P:JNK cascade|IDA',NULL,NULL,NULL,NULL,NULL),(138539,'Experimental MF/BP Leaf Term GOA',NULL,11738,NULL,'GO:0051010|F:microtubule plus-end binding|IDA',NULL,NULL,NULL,NULL,NULL),(138540,'Experimental MF/BP Leaf Term GOA',NULL,11741,NULL,'GO:0070888|F:E-box binding|IMP; GO:0042803|F:protein homodimerization activity|IMP; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138541,'Experimental MF/BP Leaf Term GOA',NULL,11744,NULL,'GO:0015227|F:acyl carnitine transmembrane transporter activity|EXP',NULL,NULL,NULL,NULL,NULL),(138542,'Experimental MF/BP Leaf Term GOA',NULL,11745,NULL,'GO:0004493|F:methylmalonyl-CoA epimerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138543,'Experimental MF/BP Leaf Term GOA',NULL,11746,NULL,'GO:0042407|P:cristae formation|IMP',NULL,NULL,NULL,NULL,NULL),(138544,'Experimental MF/BP Leaf Term GOA',NULL,11764,NULL,'GO:0010735|P:positive regulation of transcription via serum response element binding|IMP',NULL,NULL,NULL,NULL,NULL),(138545,'Experimental MF/BP Leaf Term GOA',NULL,11765,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0042407|P:cristae formation|IMP',NULL,NULL,NULL,NULL,NULL),(138546,'Experimental MF/BP Leaf Term GOA',NULL,11768,NULL,'GO:0031005|F:filamin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138547,'Experimental MF/BP Leaf Term GOA',NULL,11772,NULL,'GO:0005524|F:ATP binding|IDA; GO:0070266|P:necroptotic process|IMP; GO:0070207|P:protein homotrimerization|IDA',NULL,NULL,NULL,NULL,NULL),(138548,'Experimental MF/BP Leaf Term GOA',NULL,11773,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138549,'Experimental MF/BP Leaf Term GOA',NULL,11779,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0097192|P:extrinsic apoptotic signaling pathway in absence of ligand|IMP; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IMP; GO:0001844|P:protein insertion into mitochondrial membrane involved in apoptotic signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138550,'Experimental MF/BP Leaf Term GOA',NULL,11794,NULL,'GO:0003846|F:2-acylglycerol O-acyltransferase activity|IDA; GO:0004144|F:diacylglycerol O-acyltransferase activity|IDA; GO:0019432|P:triglyceride biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(138551,'Experimental MF/BP Leaf Term GOA',NULL,11798,NULL,'GO:2000774|P:positive regulation of cellular senescence|IDA',NULL,NULL,NULL,NULL,NULL),(138552,'Experimental MF/BP Leaf Term GOA',NULL,11801,NULL,'GO:0005524|F:ATP binding|IDA; GO:0031573|P:intra-S DNA damage checkpoint|IDA',NULL,NULL,NULL,NULL,NULL),(138553,'Experimental MF/BP Leaf Term GOA',NULL,11802,NULL,'GO:0051434|F:BH3 domain binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0097192|P:extrinsic apoptotic signaling pathway in absence of ligand|IMP; GO:2000811|P:negative regulation of anoikis|IMP; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IMP; GO:1903378|P:positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway|IGI',NULL,NULL,NULL,NULL,NULL),(138554,'Experimental MF/BP Leaf Term GOA',NULL,11803,NULL,'GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(138555,'Experimental MF/BP Leaf Term GOA',NULL,11807,NULL,'GO:0004602|F:glutathione peroxidase activity|IDA; GO:0004364|F:glutathione transferase activity|IDA; GO:0004464|F:leukotriene-C4 synthase activity|IDA; GO:0006750|P:glutathione biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(138556,'Experimental MF/BP Leaf Term GOA',NULL,11809,NULL,'GO:0030144|F:alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity|IDA; GO:0030145|F:manganese ion binding|IDA; GO:1903614|P:negative regulation of protein tyrosine phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138557,'Experimental MF/BP Leaf Term GOA',NULL,11810,NULL,'GO:0045041|P:protein import into mitochondrial intermembrane space|IMP; GO:0022417|P:protein maturation by protein folding|IMP',NULL,NULL,NULL,NULL,NULL),(138558,'Experimental MF/BP Leaf Term GOA',NULL,11814,NULL,'GO:0030889|P:negative regulation of B cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(138559,'Experimental MF/BP Leaf Term GOA',NULL,11815,NULL,'GO:0008327|F:methyl-CpG binding|IDA',NULL,NULL,NULL,NULL,NULL),(138560,'Experimental MF/BP Leaf Term GOA',NULL,11817,NULL,'GO:0035025|P:positive regulation of Rho protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(138561,'Experimental MF/BP Leaf Term GOA',NULL,11819,NULL,'GO:0030144|F:alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity|IDA; GO:0030145|F:manganese ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138562,'Experimental MF/BP Leaf Term GOA',NULL,11822,NULL,'GO:0003827|F:alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|IDA; GO:0030145|F:manganese ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138563,'Experimental MF/BP Leaf Term GOA',NULL,11824,NULL,'GO:0051491|P:positive regulation of filopodium assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138564,'Experimental MF/BP Leaf Term GOA',NULL,11825,NULL,'GO:0046703|F:natural killer cell lectin-like receptor binding|IDA; GO:0050689|P:negative regulation of defense response to virus by host|IDA',NULL,NULL,NULL,NULL,NULL),(138565,'Experimental MF/BP Leaf Term GOA',NULL,11828,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0051561|P:positive regulation of mitochondrial calcium ion concentration|IDA',NULL,NULL,NULL,NULL,NULL),(138566,'Experimental MF/BP Leaf Term GOA',NULL,11829,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0097352|P:autophagosome maturation|IDA',NULL,NULL,NULL,NULL,NULL),(138567,'Experimental MF/BP Leaf Term GOA',NULL,11830,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0097352|P:autophagosome maturation|IDA',NULL,NULL,NULL,NULL,NULL),(138568,'Experimental MF/BP Leaf Term GOA',NULL,11832,NULL,'GO:0031005|F:filamin binding|IPI; GO:0051082|F:unfolded protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(138569,'Experimental MF/BP Leaf Term GOA',NULL,11834,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(138570,'Experimental MF/BP Leaf Term GOA',NULL,11837,NULL,'GO:0070935|P:3\'-UTR-mediated mRNA stabilization|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(138571,'Experimental MF/BP Leaf Term GOA',NULL,11839,NULL,'GO:0048270|F:methionine adenosyltransferase regulator activity|IDA; GO:0006556|P:S-adenosylmethionine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(138572,'Experimental MF/BP Leaf Term GOA',NULL,11840,NULL,'GO:0035198|F:miRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(138573,'Experimental MF/BP Leaf Term GOA',NULL,11842,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(138574,'Experimental MF/BP Leaf Term GOA',NULL,11844,NULL,'GO:0007399|P:nervous system development|IMP',NULL,NULL,NULL,NULL,NULL),(138575,'Experimental MF/BP Leaf Term GOA',NULL,11846,NULL,'GO:0042407|P:cristae formation|IMP',NULL,NULL,NULL,NULL,NULL),(138576,'Experimental MF/BP Leaf Term GOA',NULL,11847,NULL,'GO:0042407|P:cristae formation|IMP',NULL,NULL,NULL,NULL,NULL),(138577,'Experimental MF/BP Leaf Term GOA',NULL,11848,NULL,'GO:0046703|F:natural killer cell lectin-like receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(138578,'Experimental MF/BP Leaf Term GOA',NULL,11853,NULL,'GO:0005525|F:GTP binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138579,'Experimental MF/BP Leaf Term GOA',NULL,11854,NULL,'GO:0004427|F:inorganic diphosphatase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(138580,'Experimental MF/BP Leaf Term GOA',NULL,11856,NULL,'GO:0035198|F:miRNA binding|IDA; GO:0061158|P:3\'-UTR-mediated mRNA destabilization|IDA; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IMP',NULL,NULL,NULL,NULL,NULL),(138581,'Experimental MF/BP Leaf Term GOA',NULL,11862,NULL,'GO:0004052|F:arachidonate 12-lipoxygenase activity|IDA; GO:0016165|F:linoleate 13S-lipoxygenase activity|IDA; GO:0043651|P:linoleic acid metabolic process|IDA; GO:2001303|P:lipoxin A4 biosynthetic process|IDA; GO:2001306|P:lipoxin B4 biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(138582,'Experimental MF/BP Leaf Term GOA',NULL,11864,NULL,'GO:0032197|P:transposition, RNA-mediated|IDA',NULL,NULL,NULL,NULL,NULL),(138583,'Experimental MF/BP Leaf Term GOA',NULL,11865,NULL,'GO:0004720|F:protein-lysine 6-oxidase activity|IDA; GO:0030199|P:collagen fibril organization|IMP; GO:0018057|P:peptidyl-lysine oxidation|IDA; GO:0002040|P:sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138584,'Experimental MF/BP Leaf Term GOA',NULL,11867,NULL,'GO:0008195|F:phosphatidate phosphatase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138585,'Experimental MF/BP Leaf Term GOA',NULL,11868,NULL,'GO:0004051|F:arachidonate 5-lipoxygenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138586,'Experimental MF/BP Leaf Term GOA',NULL,11873,NULL,'GO:0001968|F:fibronectin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138587,'Experimental MF/BP Leaf Term GOA',NULL,11875,NULL,'GO:1990869|P:cellular response to chemokine|IMP; GO:0034260|P:negative regulation of GTPase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138588,'Experimental MF/BP Leaf Term GOA',NULL,11879,NULL,'GO:0035987|P:endodermal cell differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(138589,'Experimental MF/BP Leaf Term GOA',NULL,11885,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1905166|P:negative regulation of lysosomal protein catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(138590,'Experimental MF/BP Leaf Term GOA',NULL,11887,NULL,'GO:0030145|F:manganese ion binding|IDA; GO:0035269|P:protein O-linked mannosylation|IDA',NULL,NULL,NULL,NULL,NULL),(138591,'Experimental MF/BP Leaf Term GOA',NULL,11889,NULL,'GO:0004252|F:serine-type endopeptidase activity|EXP; GO:0035987|P:endodermal cell differentiation|IEP; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(138592,'Experimental MF/BP Leaf Term GOA',NULL,11890,NULL,'GO:0070087|F:chromo shadow domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(138593,'Experimental MF/BP Leaf Term GOA',NULL,11895,NULL,'GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IDA; GO:0007565|P:female pregnancy|IDA; GO:0002519|P:natural killer cell tolerance induction|IMP; GO:0046007|P:negative regulation of activated T cell proliferation|IMP; GO:2000562|P:negative regulation of CD4-positive, alpha-beta T cell proliferation|IDA; GO:0038066|P:p38MAPK cascade|IDA; GO:0070241|P:positive regulation of activated T cell autonomous cell death|IDA; GO:2000563|P:positive regulation of CD4-positive, alpha-beta T cell proliferation|IDA; GO:0032834|P:positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response|IDA; GO:2000670|P:positive regulation of dendritic cell apoptotic process|IDA; GO:2001200|P:positive regulation of dendritic cell differentiation|IMP; GO:1902715|P:positive regulation of interferon-gamma secretion|IDA; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:2001181|P:positive regulation of interleukin-10 secretion|IDA; GO:2001184|P:positive regulation of interleukin-12 secretion|IMP; GO:2000667|P:positive regulation of interleukin-13 secretion|IDA; GO:2000778|P:positive regulation of interleukin-6 secretion|IMP; GO:2000484|P:positive regulation of interleukin-8 secretion|IMP; GO:0071639|P:positive regulation of monocyte chemotactic protein-1 production|IMP; GO:2001190|P:positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|IDA; GO:1904469|P:positive regulation of tumor necrosis factor secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138594,'Experimental MF/BP Leaf Term GOA',NULL,11896,NULL,'GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:2000484|P:positive regulation of interleukin-8 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(138595,'Experimental MF/BP Leaf Term GOA',NULL,11902,NULL,'GO:0008201|F:heparin binding|IDA; GO:0004465|F:lipoprotein lipase activity|IDA; GO:0042632|P:cholesterol homeostasis|IMP; GO:0055096|P:low-density lipoprotein particle mediated signaling|IMP; GO:0010886|P:positive regulation of cholesterol storage|IMP; GO:0010890|P:positive regulation of sequestering of triglyceride|IMP; GO:0019432|P:triglyceride biosynthetic process|IDA; GO:0019433|P:triglyceride catabolic process|IDA; GO:0034372|P:very-low-density lipoprotein particle remodeling|IDA',NULL,NULL,NULL,NULL,NULL),(138596,'Experimental MF/BP Leaf Term GOA',NULL,11908,NULL,'GO:0051120|F:hepoxilin A3 synthase activity|IDA; GO:0051122|P:hepoxilin biosynthetic process|IDA; GO:0043651|P:linoleic acid metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(138597,'Experimental MF/BP Leaf Term GOA',NULL,11910,NULL,'GO:0003785|F:actin monomer binding|IDA',NULL,NULL,NULL,NULL,NULL),(138598,'Experimental MF/BP Leaf Term GOA',NULL,11911,NULL,'GO:0047372|F:acylglycerol lipase activity|IDA; GO:0047714|F:galactolipase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138599,'Experimental MF/BP Leaf Term GOA',NULL,11913,NULL,'GO:0005537|F:mannose binding|IMP',NULL,NULL,NULL,NULL,NULL),(138600,'Experimental MF/BP Leaf Term GOA',NULL,11928,NULL,'GO:0033962|P:cytoplasmic mRNA processing body assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138601,'Experimental MF/BP Leaf Term GOA',NULL,11930,NULL,'GO:0051087|F:chaperone binding|IPI',NULL,NULL,NULL,NULL,NULL),(138602,'Experimental MF/BP Leaf Term GOA',NULL,11943,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(138603,'Experimental MF/BP Leaf Term GOA',NULL,11946,NULL,'GO:0051497|P:negative regulation of stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138604,'Experimental MF/BP Leaf Term GOA',NULL,11951,NULL,'GO:0008195|F:phosphatidate phosphatase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138605,'Experimental MF/BP Leaf Term GOA',NULL,11953,NULL,'GO:1990051|P:activation of protein kinase C activity|IDA; GO:0044320|P:cellular response to leptin stimulus|IDA; GO:0072604|P:interleukin-6 secretion|IDA; GO:0072606|P:interleukin-8 secretion|IDA; GO:0046325|P:negative regulation of glucose import|IDA; GO:0001890|P:placenta development|IDA; GO:1900745|P:positive regulation of p38MAPK cascade|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA',NULL,NULL,NULL,NULL,NULL),(138606,'Experimental MF/BP Leaf Term GOA',NULL,11963,NULL,'GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138607,'Experimental MF/BP Leaf Term GOA',NULL,11967,NULL,'GO:2001183|P:negative regulation of interleukin-12 secretion|IDA; GO:2000666|P:negative regulation of interleukin-13 secretion|IDA; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:2001181|P:positive regulation of interleukin-10 secretion|IDA; GO:2000778|P:positive regulation of interleukin-6 secretion|IDA; GO:1904469|P:positive regulation of tumor necrosis factor secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138608,'Experimental MF/BP Leaf Term GOA',NULL,11971,NULL,'GO:0004720|F:protein-lysine 6-oxidase activity|IDA; GO:0018057|P:peptidyl-lysine oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(138609,'Experimental MF/BP Leaf Term GOA',NULL,11976,NULL,'GO:0030165|F:PDZ domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(138610,'Experimental MF/BP Leaf Term GOA',NULL,11980,NULL,'GO:0008327|F:methyl-CpG binding|IDA',NULL,NULL,NULL,NULL,NULL),(138611,'Experimental MF/BP Leaf Term GOA',NULL,11981,NULL,'GO:0005127|F:ciliary neurotrophic factor receptor binding|IPI; GO:0004923|F:leukemia inhibitory factor receptor activity|IDA; GO:0070120|P:ciliary neurotrophic factor-mediated signaling pathway|IDA; GO:0038165|P:oncostatin-M-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138612,'Experimental MF/BP Leaf Term GOA',NULL,11986,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IEP; GO:0051894|P:positive regulation of focal adhesion assembly|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(138613,'Experimental MF/BP Leaf Term GOA',NULL,11989,NULL,'GO:0031493|F:nucleosomal histone binding|IDA; GO:0032093|F:SAM domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(138614,'Experimental MF/BP Leaf Term GOA',NULL,11990,NULL,'GO:0030107|F:HLA-A specific inhibitory MHC class I receptor activity|IDA; GO:0030109|F:HLA-B specific inhibitory MHC class I receptor activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0008157|F:protein phosphatase 1 binding|IPI; GO:0042169|F:SH2 domain binding|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IEP; GO:0002774|P:Fc receptor mediated inhibitory signaling pathway|IDA; GO:0032609|P:interferon-gamma production|IDA; GO:0072643|P:interferon-gamma secretion|IDA; GO:0002740|P:negative regulation of cytokine secretion involved in immune response|IDA; GO:2000669|P:negative regulation of dendritic cell apoptotic process|IDA; GO:2001199|P:negative regulation of dendritic cell differentiation|IMP; GO:0035548|P:negative regulation of interferon-beta secretion|IDA; GO:0045077|P:negative regulation of interferon-gamma biosynthetic process|IDA; GO:2001180|P:negative regulation of interleukin-10 secretion|IDA; GO:2001183|P:negative regulation of interleukin-12 secretion|IDA; GO:2001205|P:negative regulation of osteoclast development|IDA; GO:0014063|P:negative regulation of serotonin secretion|IDA; GO:2001189|P:negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|IDA; GO:2001202|P:negative regulation of transforming growth factor-beta secretion|IDA; GO:0042536|P:negative regulation of tumor necrosis factor biosynthetic process|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IDA; GO:2001193|P:positive regulation of gamma-delta T cell activation involved in immune response|IDA',NULL,NULL,NULL,NULL,NULL),(138615,'Experimental MF/BP Leaf Term GOA',NULL,11991,NULL,'GO:0001540|F:amyloid-beta binding|IMP; GO:0042803|F:protein homodimerization activity|IDA; GO:0008157|F:protein phosphatase 1 binding|IPI; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0002774|P:Fc receptor mediated inhibitory signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138616,'Experimental MF/BP Leaf Term GOA',NULL,11992,NULL,'GO:0045022|P:early endosome to late endosome transport|IMP; GO:0033572|P:transferrin transport|IMP',NULL,NULL,NULL,NULL,NULL),(138617,'Experimental MF/BP Leaf Term GOA',NULL,11994,NULL,'GO:1904977|P:lymphatic endothelial cell migration|IDA; GO:0098792|P:xenophagy|IMP',NULL,NULL,NULL,NULL,NULL),(138618,'Experimental MF/BP Leaf Term GOA',NULL,12003,NULL,'GO:0097016|F:L27 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(138619,'Experimental MF/BP Leaf Term GOA',NULL,12008,NULL,'GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:2000324|P:positive regulation of glucocorticoid receptor signaling pathway|IDA; GO:0035360|P:positive regulation of peroxisome proliferator activated receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138620,'Experimental MF/BP Leaf Term GOA',NULL,12015,NULL,'GO:0042632|P:cholesterol homeostasis|IMP; GO:0034374|P:low-density lipoprotein particle remodeling|IMP; GO:0019433|P:triglyceride catabolic process|IDA; GO:0034372|P:very-low-density lipoprotein particle remodeling|IDA',NULL,NULL,NULL,NULL,NULL),(138621,'Experimental MF/BP Leaf Term GOA',NULL,12019,NULL,'GO:0070006|F:metalloaminopeptidase activity|IMP; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138622,'Experimental MF/BP Leaf Term GOA',NULL,12021,NULL,'GO:0001791|F:IgM binding|IDA; GO:0071611|P:granulocyte colony-stimulating factor production|IMP; GO:0032604|P:granulocyte macrophage colony-stimulating factor production|IMP; GO:0032635|P:interleukin-6 production|IMP; GO:0032637|P:interleukin-8 production|IMP; GO:0034144|P:negative regulation of toll-like receptor 4 signaling pathway|IMP; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:2000778|P:positive regulation of interleukin-6 secretion|IDA; GO:1904469|P:positive regulation of tumor necrosis factor secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138623,'Experimental MF/BP Leaf Term GOA',NULL,12022,NULL,'GO:0071456|P:cellular response to hypoxia|IEP',NULL,NULL,NULL,NULL,NULL),(138624,'Experimental MF/BP Leaf Term GOA',NULL,12023,NULL,'GO:0070886|P:positive regulation of calcineurin-NFAT signaling cascade|IMP',NULL,NULL,NULL,NULL,NULL),(138625,'Experimental MF/BP Leaf Term GOA',NULL,12031,NULL,'GO:0005109|F:frizzled binding|IPI; GO:0005041|F:low-density lipoprotein particle receptor activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0017147|F:Wnt-protein binding|IPI; GO:0071397|P:cellular response to cholesterol|IMP; GO:0014029|P:neural crest formation|IDA',NULL,NULL,NULL,NULL,NULL),(138626,'Experimental MF/BP Leaf Term GOA',NULL,12035,NULL,'GO:2000623|P:negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|IMP',NULL,NULL,NULL,NULL,NULL),(138627,'Experimental MF/BP Leaf Term GOA',NULL,12036,NULL,'GO:0004464|F:leukotriene-C4 synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138628,'Experimental MF/BP Leaf Term GOA',NULL,12042,NULL,'GO:0004771|F:sterol esterase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138629,'Experimental MF/BP Leaf Term GOA',NULL,12043,NULL,'GO:0070840|F:dynein complex binding|IDA; GO:0048854|P:brain morphogenesis|IMP; GO:0021987|P:cerebral cortex development|IMP; GO:0021540|P:corpus callosum morphogenesis|IMP; GO:0050885|P:neuromuscular process controlling balance|IMP',NULL,NULL,NULL,NULL,NULL),(138630,'Experimental MF/BP Leaf Term GOA',NULL,12047,NULL,'GO:0010587|P:miRNA catabolic process|IMP; GO:0031054|P:pre-miRNA processing|IMP',NULL,NULL,NULL,NULL,NULL),(138631,'Experimental MF/BP Leaf Term GOA',NULL,12048,NULL,'GO:0009036|F:type II site-specific deoxyribonuclease activity|IDA; GO:0032199|P:reverse transcription involved in RNA-mediated transposition|IDA; GO:0032197|P:transposition, RNA-mediated|IMP',NULL,NULL,NULL,NULL,NULL),(138632,'Experimental MF/BP Leaf Term GOA',NULL,12051,NULL,'GO:0050431|F:transforming growth factor beta binding|IDA',NULL,NULL,NULL,NULL,NULL),(138633,'Experimental MF/BP Leaf Term GOA',NULL,12058,NULL,'GO:0015810|P:aspartate transmembrane transport|IMP; GO:0015734|P:taurine transport|IMP',NULL,NULL,NULL,NULL,NULL),(138634,'Experimental MF/BP Leaf Term GOA',NULL,12061,NULL,'GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138635,'Experimental MF/BP Leaf Term GOA',NULL,12064,NULL,'GO:0106035|P:protein maturation by [4Fe-4S] cluster transfer|IDA; GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138636,'Experimental MF/BP Leaf Term GOA',NULL,12067,NULL,'GO:0033130|F:acetylcholine receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(138637,'Experimental MF/BP Leaf Term GOA',NULL,12069,NULL,'GO:0031666|P:positive regulation of lipopolysaccharide-mediated signaling pathway|IGI',NULL,NULL,NULL,NULL,NULL),(138638,'Experimental MF/BP Leaf Term GOA',NULL,12070,NULL,'GO:0001875|F:lipopolysaccharide receptor activity|IDA; GO:0032497|P:detection of lipopolysaccharide|IDA',NULL,NULL,NULL,NULL,NULL),(138639,'Experimental MF/BP Leaf Term GOA',NULL,12075,NULL,'GO:0007283|P:spermatogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(138640,'Experimental MF/BP Leaf Term GOA',NULL,12079,NULL,'GO:0004571|F:mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|IDA; GO:1904382|P:mannose trimming involved in glycoprotein ERAD pathway|IMP; GO:0036509|P:trimming of terminal mannose on B branch|IDA',NULL,NULL,NULL,NULL,NULL),(138641,'Experimental MF/BP Leaf Term GOA',NULL,12081,NULL,'GO:0051011|F:microtubule minus-end binding|IDA',NULL,NULL,NULL,NULL,NULL),(138642,'Experimental MF/BP Leaf Term GOA',NULL,12083,NULL,'GO:0098640|F:integrin binding involved in cell-matrix adhesion|IDA; GO:0007229|P:integrin-mediated signaling pathway|IDA; GO:0050901|P:leukocyte tethering or rolling|IDA',NULL,NULL,NULL,NULL,NULL),(138643,'Experimental MF/BP Leaf Term GOA',NULL,12084,NULL,'GO:1902856|P:negative regulation of non-motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138644,'Experimental MF/BP Leaf Term GOA',NULL,12085,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(138645,'Experimental MF/BP Leaf Term GOA',NULL,12095,NULL,'GO:0030229|F:very-low-density lipoprotein particle receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138646,'Experimental MF/BP Leaf Term GOA',NULL,12096,NULL,'GO:0004558|F:alpha-1,4-glucosidase activity|IDA; GO:0060048|P:cardiac muscle contraction|IMP; GO:0002086|P:diaphragm contraction|IMP',NULL,NULL,NULL,NULL,NULL),(138647,'Experimental MF/BP Leaf Term GOA',NULL,12098,NULL,'GO:0030550|F:acetylcholine receptor inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138648,'Experimental MF/BP Leaf Term GOA',NULL,12101,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(138649,'Experimental MF/BP Leaf Term GOA',NULL,12104,NULL,'GO:0042826|F:histone deacetylase binding|IDA',NULL,NULL,NULL,NULL,NULL),(138650,'Experimental MF/BP Leaf Term GOA',NULL,12109,NULL,'GO:0097110|F:scaffold protein binding|IDA; GO:0007250|P:activation of NF-kappaB-inducing kinase activity|IMP; GO:0007252|P:I-kappaB phosphorylation|IDA; GO:0007254|P:JNK cascade|IDA',NULL,NULL,NULL,NULL,NULL),(138651,'Experimental MF/BP Leaf Term GOA',NULL,12112,NULL,'GO:0070528|P:protein kinase C signaling|IMP',NULL,NULL,NULL,NULL,NULL),(138652,'Experimental MF/BP Leaf Term GOA',NULL,12114,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(138653,'Experimental MF/BP Leaf Term GOA',NULL,12117,NULL,'GO:0005540|F:hyaluronic acid binding|IDA',NULL,NULL,NULL,NULL,NULL),(138654,'Experimental MF/BP Leaf Term GOA',NULL,12122,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0042609|F:CD4 receptor binding|IPI; GO:0042610|F:CD8 receptor binding|IPI; GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0042169|F:SH2 domain binding|IPI; GO:0042608|F:T cell receptor binding|IPI; GO:0006882|P:cellular zinc ion homeostasis|IEP; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IMP',NULL,NULL,NULL,NULL,NULL),(138655,'Experimental MF/BP Leaf Term GOA',NULL,12125,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0090630|P:activation of GTPase activity|IDA; GO:0036120|P:cellular response to platelet-derived growth factor stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(138656,'Experimental MF/BP Leaf Term GOA',NULL,12126,NULL,'GO:0030544|F:Hsp70 protein binding|IPI; GO:0032609|P:interferon-gamma production|IDA; GO:0042535|P:positive regulation of tumor necrosis factor biosynthetic process|IDA; GO:0002296|P:T-helper 1 cell lineage commitment|IDA',NULL,NULL,NULL,NULL,NULL),(138657,'Experimental MF/BP Leaf Term GOA',NULL,12130,NULL,'GO:0097202|P:activation of cysteine-type endopeptidase activity|IDA; GO:1904646|P:cellular response to amyloid-beta|IDA; GO:0071277|P:cellular response to calcium ion|IDA; GO:0035729|P:cellular response to hepatocyte growth factor stimulus|IDA; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(138658,'Experimental MF/BP Leaf Term GOA',NULL,12134,NULL,'GO:0050699|F:WW domain binding|IPI; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138659,'Experimental MF/BP Leaf Term GOA',NULL,12135,NULL,'GO:0034156|P:negative regulation of toll-like receptor 7 signaling pathway|IMP; GO:0034164|P:negative regulation of toll-like receptor 9 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138660,'Experimental MF/BP Leaf Term GOA',NULL,12136,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(138661,'Experimental MF/BP Leaf Term GOA',NULL,12138,NULL,'GO:0047173|F:phosphatidylcholine-retinol O-acyltransferase activity|IDA; GO:0042572|P:retinol metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(138662,'Experimental MF/BP Leaf Term GOA',NULL,12141,NULL,'GO:0060173|P:limb development|IDA',NULL,NULL,NULL,NULL,NULL),(138663,'Experimental MF/BP Leaf Term GOA',NULL,12142,NULL,'GO:0042731|F:PH domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(138664,'Experimental MF/BP Leaf Term GOA',NULL,12143,NULL,'GO:0008327|F:methyl-CpG binding|IDA',NULL,NULL,NULL,NULL,NULL),(138665,'Experimental MF/BP Leaf Term GOA',NULL,12144,NULL,'GO:0050431|F:transforming growth factor beta binding|IDA',NULL,NULL,NULL,NULL,NULL),(138666,'Experimental MF/BP Leaf Term GOA',NULL,12154,NULL,'GO:0008474|F:palmitoyl-(protein) hydrolase activity|IDA; GO:0002084|P:protein depalmitoylation|IDA',NULL,NULL,NULL,NULL,NULL),(138667,'Experimental MF/BP Leaf Term GOA',NULL,12156,NULL,'GO:2000483|P:negative regulation of interleukin-8 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(138668,'Experimental MF/BP Leaf Term GOA',NULL,12157,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138669,'Experimental MF/BP Leaf Term GOA',NULL,12159,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138670,'Experimental MF/BP Leaf Term GOA',NULL,12163,NULL,'GO:0031697|F:beta-1 adrenergic receptor binding|IPI; GO:0051898|P:negative regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(138671,'Experimental MF/BP Leaf Term GOA',NULL,12165,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0046814|P:coreceptor-mediated virion attachment to host cell|IDA; GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IDA; GO:0002860|P:positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|IMP; GO:0050862|P:positive regulation of T cell receptor signaling pathway|IDA; GO:0042271|P:susceptibility to natural killer cell mediated cytotoxicity|IMP; GO:0060370|P:susceptibility to T cell mediated cytotoxicity|IDA',NULL,NULL,NULL,NULL,NULL),(138672,'Experimental MF/BP Leaf Term GOA',NULL,12167,NULL,'GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138673,'Experimental MF/BP Leaf Term GOA',NULL,12171,NULL,'GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(138674,'Experimental MF/BP Leaf Term GOA',NULL,12174,NULL,'GO:0017147|F:Wnt-protein binding|IPI; GO:0048539|P:bone marrow development|IMP; GO:0042632|P:cholesterol homeostasis|IMP; GO:0060042|P:retina morphogenesis in camera-type eye|IMP; GO:0061304|P:retinal blood vessel morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(138675,'Experimental MF/BP Leaf Term GOA',NULL,12175,NULL,'GO:2000786|P:positive regulation of autophagosome assembly|IMP; GO:1904417|P:positive regulation of xenophagy|IMP; GO:0051865|P:protein autoubiquitination|IDA; GO:0070086|P:ubiquitin-dependent endocytosis|IDA',NULL,NULL,NULL,NULL,NULL),(138676,'Experimental MF/BP Leaf Term GOA',NULL,12177,NULL,'GO:0042632|P:cholesterol homeostasis|IMP',NULL,NULL,NULL,NULL,NULL),(138677,'Experimental MF/BP Leaf Term GOA',NULL,12178,NULL,'GO:0071300|P:cellular response to retinoic acid|IMP; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IMP; GO:0010666|P:positive regulation of cardiac muscle cell apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(138678,'Experimental MF/BP Leaf Term GOA',NULL,12179,NULL,'GO:0043539|F:protein serine/threonine kinase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(138679,'Experimental MF/BP Leaf Term GOA',NULL,12183,NULL,'GO:0050473|F:arachidonate 15-lipoxygenase activity|IDA; GO:0016165|F:linoleate 13S-lipoxygenase activity|IDA; GO:0010744|P:positive regulation of macrophage derived foam cell differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(138680,'Experimental MF/BP Leaf Term GOA',NULL,12187,NULL,'GO:0061668|P:mitochondrial ribosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138681,'Experimental MF/BP Leaf Term GOA',NULL,12189,NULL,'GO:0030395|F:lactose binding|IDA',NULL,NULL,NULL,NULL,NULL),(138682,'Experimental MF/BP Leaf Term GOA',NULL,12191,NULL,'GO:0015369|F:calcium:proton antiporter activity|IDA; GO:0042407|P:cristae formation|IMP',NULL,NULL,NULL,NULL,NULL),(138683,'Experimental MF/BP Leaf Term GOA',NULL,12192,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138684,'Experimental MF/BP Leaf Term GOA',NULL,12193,NULL,'GO:0002039|F:p53 binding|IPI; GO:0006977|P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|IDA; GO:0006978|P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IDA; GO:1902166|P:negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IDA; GO:0010944|P:negative regulation of transcription by competitive promoter binding|IDA',NULL,NULL,NULL,NULL,NULL),(138685,'Experimental MF/BP Leaf Term GOA',NULL,12194,NULL,'GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IDA',NULL,NULL,NULL,NULL,NULL),(138686,'Experimental MF/BP Leaf Term GOA',NULL,12198,NULL,'GO:0033962|P:cytoplasmic mRNA processing body assembly|IMP; GO:0035195|P:gene silencing by miRNA|IMP; GO:0035331|P:negative regulation of hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(138687,'Experimental MF/BP Leaf Term GOA',NULL,12199,NULL,'GO:0097016|F:L27 domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(138688,'Experimental MF/BP Leaf Term GOA',NULL,12202,NULL,'GO:1902894|P:negative regulation of pri-miRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(138689,'Experimental MF/BP Leaf Term GOA',NULL,12203,NULL,'GO:2000376|P:positive regulation of oxygen metabolic process|IMP; GO:0009249|P:protein lipoylation|IMP',NULL,NULL,NULL,NULL,NULL),(138690,'Experimental MF/BP Leaf Term GOA',NULL,12205,NULL,'GO:0035727|F:lysophosphatidic acid binding|IDA; GO:0070915|F:lysophosphatidic acid receptor activity|IDA; GO:0007202|P:activation of phospholipase C activity|IDA; GO:0051482|P:positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138691,'Experimental MF/BP Leaf Term GOA',NULL,12214,NULL,'GO:0016964|F:alpha-2 macroglobulin receptor activity|IMP; GO:0032050|F:clathrin heavy chain binding|IPI; GO:1905167|P:positive regulation of lysosomal protein catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(138692,'Experimental MF/BP Leaf Term GOA',NULL,12216,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0007175|P:negative regulation of epidermal growth factor-activated receptor activity|IMP',NULL,NULL,NULL,NULL,NULL),(138693,'Experimental MF/BP Leaf Term GOA',NULL,12223,NULL,'GO:0051059|F:NF-kappaB binding|IPI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(138694,'Experimental MF/BP Leaf Term GOA',NULL,12224,NULL,'GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(138695,'Experimental MF/BP Leaf Term GOA',NULL,12227,NULL,'GO:0016339|P:calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules|IMP; GO:0050901|P:leukocyte tethering or rolling|IMP',NULL,NULL,NULL,NULL,NULL),(138696,'Experimental MF/BP Leaf Term GOA',NULL,12235,NULL,'GO:0005524|F:ATP binding|IDA; GO:0007257|P:activation of JUN kinase activity|IDA; GO:1904628|P:cellular response to phorbol 13-acetate 12-myristate|IDA',NULL,NULL,NULL,NULL,NULL),(138697,'Experimental MF/BP Leaf Term GOA',NULL,12236,NULL,'GO:0046785|P:microtubule polymerization|IDA',NULL,NULL,NULL,NULL,NULL),(138698,'Experimental MF/BP Leaf Term GOA',NULL,12238,NULL,'GO:0004364|F:glutathione transferase activity|IDA; GO:0016034|F:maleylacetoacetate isomerase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(138699,'Experimental MF/BP Leaf Term GOA',NULL,12248,NULL,'GO:0010607|P:negative regulation of cytoplasmic mRNA processing body assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138700,'Experimental MF/BP Leaf Term GOA',NULL,12251,NULL,'GO:0030220|P:platelet formation|IMP',NULL,NULL,NULL,NULL,NULL),(138701,'Experimental MF/BP Leaf Term GOA',NULL,12252,NULL,'GO:0007095|P:mitotic G2 DNA damage checkpoint|IDA; GO:0090656|P:t-circle formation|IMP; GO:0090737|P:telomere maintenance via telomere trimming|IGI; GO:0031860|P:telomeric 3\' overhang formation|IMP',NULL,NULL,NULL,NULL,NULL),(138702,'Experimental MF/BP Leaf Term GOA',NULL,12257,NULL,'GO:0007342|P:fusion of sperm to egg plasma membrane involved in single fertilization|IMP',NULL,NULL,NULL,NULL,NULL),(138703,'Experimental MF/BP Leaf Term GOA',NULL,12258,NULL,'GO:0047865|F:dimethylglycine dehydrogenase activity|IMP; GO:0042426|P:choline catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(138704,'Experimental MF/BP Leaf Term GOA',NULL,12265,NULL,'GO:0089720|F:caspase binding|IDA',NULL,NULL,NULL,NULL,NULL),(138705,'Experimental MF/BP Leaf Term GOA',NULL,12267,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138706,'Experimental MF/BP Leaf Term GOA',NULL,12271,NULL,'GO:0070006|F:metalloaminopeptidase activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138707,'Experimental MF/BP Leaf Term GOA',NULL,12273,NULL,'GO:0043295|F:glutathione binding|IDA; GO:0050750|F:low-density lipoprotein particle receptor binding|IDA; GO:0017124|F:SH3 domain binding|IPI; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138708,'Experimental MF/BP Leaf Term GOA',NULL,12275,NULL,'GO:0008190|F:eukaryotic initiation factor 4E binding|IPI; GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:0008494|F:translation activator activity|IMP; GO:0072752|P:cellular response to rapamycin|IMP',NULL,NULL,NULL,NULL,NULL),(138709,'Experimental MF/BP Leaf Term GOA',NULL,12283,NULL,'GO:0070016|F:armadillo repeat domain binding|IPI; GO:0008013|F:beta-catenin binding|IDA; GO:0070742|F:C2H2 zinc finger domain binding|IPI; GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IMP; GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0030331|F:estrogen receptor binding|IDA; GO:0045295|F:gamma-catenin binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:0071353|P:cellular response to interleukin-4|IDA; GO:0071866|P:negative regulation of apoptotic process in bone marrow cell|IMP; GO:0071899|P:negative regulation of estrogen receptor binding|IDA; GO:0030223|P:neutrophil differentiation|IMP; GO:0001649|P:osteoblast differentiation|IEP; GO:0043923|P:positive regulation by host of viral transcription|IDA; GO:0071864|P:positive regulation of cell proliferation in bone marrow|IMP',NULL,NULL,NULL,NULL,NULL),(138710,'Experimental MF/BP Leaf Term GOA',NULL,12285,NULL,'GO:0032968|P:positive regulation of transcription elongation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(138711,'Experimental MF/BP Leaf Term GOA',NULL,12286,NULL,'GO:0003785|F:actin monomer binding|IDA',NULL,NULL,NULL,NULL,NULL),(138712,'Experimental MF/BP Leaf Term GOA',NULL,12292,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0005146|F:leukemia inhibitory factor receptor binding|IDA; GO:1901676|P:positive regulation of histone H3-K27 acetylation|IDA; GO:0072108|P:positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|IDA; GO:0033141|P:positive regulation of peptidyl-serine phosphorylation of STAT protein|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(138713,'Experimental MF/BP Leaf Term GOA',NULL,12294,NULL,'GO:0043531|F:ADP binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0004176|F:ATP-dependent peptidase activity|IDA; GO:0070182|F:DNA polymerase binding|IPI; GO:0001018|F:mitochondrial promoter sequence-specific DNA binding|IDA; GO:0070407|P:oxidation-dependent protein catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(138714,'Experimental MF/BP Leaf Term GOA',NULL,12299,NULL,'GO:0050431|F:transforming growth factor beta binding|IPI',NULL,NULL,NULL,NULL,NULL),(138715,'Experimental MF/BP Leaf Term GOA',NULL,12300,NULL,'GO:0050859|P:negative regulation of B cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138716,'Experimental MF/BP Leaf Term GOA',NULL,12303,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138717,'Experimental MF/BP Leaf Term GOA',NULL,12312,NULL,'GO:0050436|F:microfibril binding|IDA; GO:0050431|F:transforming growth factor beta binding|IPI; GO:0035583|P:sequestering of TGFbeta in extracellular matrix|IDA',NULL,NULL,NULL,NULL,NULL),(138718,'Experimental MF/BP Leaf Term GOA',NULL,12324,NULL,'GO:0001955|P:blood vessel maturation|IMP',NULL,NULL,NULL,NULL,NULL),(138719,'Experimental MF/BP Leaf Term GOA',NULL,12325,NULL,'GO:0004252|F:serine-type endopeptidase activity|IMP',NULL,NULL,NULL,NULL,NULL),(138720,'Experimental MF/BP Leaf Term GOA',NULL,12327,NULL,'GO:0018191|P:peptidyl-serine octanoylation|IDA',NULL,NULL,NULL,NULL,NULL),(138721,'Experimental MF/BP Leaf Term GOA',NULL,12329,NULL,'GO:1903126|P:negative regulation of centriole-centriole cohesion|IMP; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(138722,'Experimental MF/BP Leaf Term GOA',NULL,12332,NULL,'GO:0032613|P:interleukin-10 production|IDA; GO:0043382|P:positive regulation of memory T cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(138723,'Experimental MF/BP Leaf Term GOA',NULL,12333,NULL,'GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(138724,'Experimental MF/BP Leaf Term GOA',NULL,12336,NULL,'GO:0001731|P:formation of translation preinitiation complex|IDA; GO:0075522|P:IRES-dependent viral translational initiation|IDA; GO:0032790|P:ribosome disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(138725,'Experimental MF/BP Leaf Term GOA',NULL,12338,NULL,'GO:0001849|F:complement component C1q binding|IDA; GO:0005112|F:Notch binding|IPI; GO:0005044|F:scavenger receptor activity|IDA; GO:0014816|P:skeletal muscle satellite cell differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(138726,'Experimental MF/BP Leaf Term GOA',NULL,12343,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(138727,'Experimental MF/BP Leaf Term GOA',NULL,12344,NULL,'GO:0042954|F:lipoprotein transporter activity|IMP; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0042953|P:lipoprotein transport|IMP',NULL,NULL,NULL,NULL,NULL),(138728,'Experimental MF/BP Leaf Term GOA',NULL,12345,NULL,'GO:0071949|F:FAD binding|IDA; GO:0016174|F:NAD(P)H oxidase activity|IDA; GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(138729,'Experimental MF/BP Leaf Term GOA',NULL,12346,NULL,'GO:0035694|P:mitochondrial protein catabolic process|IMP; GO:0035695|P:mitophagy by induced vacuole formation|IMP',NULL,NULL,NULL,NULL,NULL),(138730,'Experimental MF/BP Leaf Term GOA',NULL,12347,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138731,'Experimental MF/BP Leaf Term GOA',NULL,12350,NULL,'GO:0008429|F:phosphatidylethanolamine binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0000045|P:autophagosome assembly|IMP; GO:0097352|P:autophagosome maturation|IDA',NULL,NULL,NULL,NULL,NULL),(138732,'Experimental MF/BP Leaf Term GOA',NULL,12351,NULL,'GO:1902045|P:negative regulation of Fas signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138733,'Experimental MF/BP Leaf Term GOA',NULL,12353,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001085|F:RNA polymerase II transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(138734,'Experimental MF/BP Leaf Term GOA',NULL,12354,NULL,'GO:0032034|F:myosin II head/neck binding|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138735,'Experimental MF/BP Leaf Term GOA',NULL,12357,NULL,'GO:0004462|F:lactoylglutathione lyase activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138736,'Experimental MF/BP Leaf Term GOA',NULL,12359,NULL,'GO:0004465|F:lipoprotein lipase activity|EXP; GO:0008970|F:phospholipase A1 activity|IDA; GO:0042632|P:cholesterol homeostasis|IMP; GO:0055091|P:phospholipid homeostasis|IMP; GO:0010983|P:positive regulation of high-density lipoprotein particle clearance|IMP; GO:0043691|P:reverse cholesterol transport|IMP',NULL,NULL,NULL,NULL,NULL),(138737,'Experimental MF/BP Leaf Term GOA',NULL,12360,NULL,'GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138738,'Experimental MF/BP Leaf Term GOA',NULL,12363,NULL,'GO:0071788|P:endoplasmic reticulum tubular network maintenance|IMP; GO:1903373|P:positive regulation of endoplasmic reticulum tubular network organization|IMP',NULL,NULL,NULL,NULL,NULL),(138739,'Experimental MF/BP Leaf Term GOA',NULL,12367,NULL,'GO:0003785|F:actin monomer binding|IMP; GO:0005523|F:tropomyosin binding|IMP; GO:0045214|P:sarcomere organization|IMP',NULL,NULL,NULL,NULL,NULL),(138740,'Experimental MF/BP Leaf Term GOA',NULL,12368,NULL,'GO:0003785|F:actin monomer binding|IMP; GO:0005523|F:tropomyosin binding|IMP; GO:0048743|P:positive regulation of skeletal muscle fiber development|IMP; GO:0030240|P:skeletal muscle thin filament assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138741,'Experimental MF/BP Leaf Term GOA',NULL,12370,NULL,'GO:0004052|F:arachidonate 12-lipoxygenase activity|IDA; GO:0050473|F:arachidonate 15-lipoxygenase activity|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0071277|P:cellular response to calcium ion|IDA; GO:0035963|P:cellular response to interleukin-13|IMP',NULL,NULL,NULL,NULL,NULL),(138742,'Experimental MF/BP Leaf Term GOA',NULL,12371,NULL,'GO:0008195|F:phosphatidate phosphatase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138743,'Experimental MF/BP Leaf Term GOA',NULL,12382,NULL,'GO:0099560|P:synaptic membrane adhesion|IGI',NULL,NULL,NULL,NULL,NULL),(138744,'Experimental MF/BP Leaf Term GOA',NULL,12386,NULL,'GO:0004964|F:luteinizing hormone receptor activity|IMP; GO:0071373|P:cellular response to luteinizing hormone stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(138745,'Experimental MF/BP Leaf Term GOA',NULL,12387,NULL,'GO:0071209|F:U7 snRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(138746,'Experimental MF/BP Leaf Term GOA',NULL,12388,NULL,'GO:0071949|F:FAD binding|IDA',NULL,NULL,NULL,NULL,NULL),(138747,'Experimental MF/BP Leaf Term GOA',NULL,12390,NULL,'GO:0048487|F:beta-tubulin binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(138748,'Experimental MF/BP Leaf Term GOA',NULL,12398,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(138749,'Experimental MF/BP Leaf Term GOA',NULL,12403,NULL,'GO:0071209|F:U7 snRNA binding|IPI',NULL,NULL,NULL,NULL,NULL),(138750,'Experimental MF/BP Leaf Term GOA',NULL,12405,NULL,'GO:0016174|F:NAD(P)H oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138751,'Experimental MF/BP Leaf Term GOA',NULL,12408,NULL,'GO:0050431|F:transforming growth factor beta binding|IPI; GO:1902462|P:positive regulation of mesenchymal stem cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(138752,'Experimental MF/BP Leaf Term GOA',NULL,12413,NULL,'GO:0043274|F:phospholipase binding|IDA; GO:0033691|F:sialic acid binding|IDA; GO:0007202|P:activation of phospholipase C activity|IMP; GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IMP; GO:0050901|P:leukocyte tethering or rolling|IMP',NULL,NULL,NULL,NULL,NULL),(138753,'Experimental MF/BP Leaf Term GOA',NULL,12426,NULL,'GO:0003796|F:lysozyme activity|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(138754,'Experimental MF/BP Leaf Term GOA',NULL,12427,NULL,'GO:0008474|F:palmitoyl-(protein) hydrolase activity|IMP',NULL,NULL,NULL,NULL,NULL),(138755,'Experimental MF/BP Leaf Term GOA',NULL,12429,NULL,'GO:0034314|P:Arp2/3 complex-mediated actin nucleation|IDA',NULL,NULL,NULL,NULL,NULL),(138756,'Experimental MF/BP Leaf Term GOA',NULL,12435,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138757,'Experimental MF/BP Leaf Term GOA',NULL,12438,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138758,'Experimental MF/BP Leaf Term GOA',NULL,12441,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(138759,'Experimental MF/BP Leaf Term GOA',NULL,12444,NULL,'GO:0031698|F:beta-2 adrenergic receptor binding|IDA; GO:0019871|F:sodium channel inhibitor activity|IDA; GO:0042921|P:glucocorticoid receptor signaling pathway|IDA; GO:0010768|P:negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|IMP; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP; GO:0050847|P:progesterone receptor signaling pathway|IDA; GO:0043162|P:ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138760,'Experimental MF/BP Leaf Term GOA',NULL,12446,NULL,'GO:0050321|F:tau-protein kinase activity|IMP; GO:0035331|P:negative regulation of hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(138761,'Experimental MF/BP Leaf Term GOA',NULL,12447,NULL,'GO:0043015|F:gamma-tubulin binding|IDA; GO:0050321|F:tau-protein kinase activity|IDA; GO:0007399|P:nervous system development|IDA; GO:1904781|P:positive regulation of protein localization to centrosome|IMP',NULL,NULL,NULL,NULL,NULL),(138762,'Experimental MF/BP Leaf Term GOA',NULL,12449,NULL,'GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(138763,'Experimental MF/BP Leaf Term GOA',NULL,12450,NULL,'GO:0043515|F:kinetochore binding|IDA; GO:0007094|P:mitotic spindle assembly checkpoint|IDA',NULL,NULL,NULL,NULL,NULL),(138764,'Experimental MF/BP Leaf Term GOA',NULL,12452,NULL,'GO:0032406|F:MutLbeta complex binding|IDA; GO:0032407|F:MutSalpha complex binding|IDA; GO:0032408|F:MutSbeta complex binding|IDA; GO:0036298|P:recombinational interstrand cross-link repair|IMP',NULL,NULL,NULL,NULL,NULL),(138765,'Experimental MF/BP Leaf Term GOA',NULL,12455,NULL,'GO:0010385|F:double-stranded methylated DNA binding|IMP; GO:1905643|P:positive regulation of DNA methylation|IDA',NULL,NULL,NULL,NULL,NULL),(138766,'Experimental MF/BP Leaf Term GOA',NULL,12462,NULL,'GO:0070412|F:R-SMAD binding|IPI; GO:0060394|P:negative regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0010991|P:negative regulation of SMAD protein complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138767,'Experimental MF/BP Leaf Term GOA',NULL,12467,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(138768,'Experimental MF/BP Leaf Term GOA',NULL,12468,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(138769,'Experimental MF/BP Leaf Term GOA',NULL,12474,NULL,'GO:1902004|P:positive regulation of amyloid-beta formation|IMP; GO:0099054|P:presynapse assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138770,'Experimental MF/BP Leaf Term GOA',NULL,12476,NULL,'GO:0042803|F:protein homodimerization activity|IMP; GO:0038098|P:sequestering of BMP from receptor via BMP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138771,'Experimental MF/BP Leaf Term GOA',NULL,12478,NULL,'GO:0004052|F:arachidonate 12-lipoxygenase activity|IMP; GO:0070257|P:positive regulation of mucus secretion|IMP',NULL,NULL,NULL,NULL,NULL),(138772,'Experimental MF/BP Leaf Term GOA',NULL,12485,NULL,'GO:0070830|P:bicellular tight junction assembly|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(138773,'Experimental MF/BP Leaf Term GOA',NULL,12486,NULL,'GO:0031435|F:mitogen-activated protein kinase kinase kinase binding|IDA; GO:0070830|P:bicellular tight junction assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138774,'Experimental MF/BP Leaf Term GOA',NULL,12487,NULL,'GO:0005524|F:ATP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138775,'Experimental MF/BP Leaf Term GOA',NULL,12488,NULL,'GO:1905538|F:polysome binding|IDA; GO:0010587|P:miRNA catabolic process|IMP; GO:0031054|P:pre-miRNA processing|IMP',NULL,NULL,NULL,NULL,NULL),(138776,'Experimental MF/BP Leaf Term GOA',NULL,12500,NULL,'GO:0005525|F:GTP binding|IDA; GO:0034211|F:GTP-dependent protein kinase activity|IDA; GO:0005096|F:GTPase activator activity|IDA; GO:0044325|F:ion channel binding|IPI; GO:0036479|F:peroxidase inhibitor activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0017075|F:syntaxin-1 binding|IPI; GO:1903351|P:cellular response to dopamine|IMP; GO:0008340|P:determination of adult lifespan|IMP; GO:0048312|P:intracellular distribution of mitochondria|IMP; GO:1902902|P:negative regulation of autophagosome assembly|IMP; GO:0034260|P:negative regulation of GTPase activity|IDA; GO:1903125|P:negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation|IDA; GO:0021772|P:olfactory bulb development|IMP; GO:1902499|P:positive regulation of protein autoubiquitination|IDA; GO:0070973|P:protein localization to endoplasmic reticulum exit site|IMP; GO:1904887|P:Wnt signalosome assembly|IPI',NULL,NULL,NULL,NULL,NULL),(138777,'Experimental MF/BP Leaf Term GOA',NULL,12502,NULL,'GO:0015810|P:aspartate transmembrane transport|IMP',NULL,NULL,NULL,NULL,NULL),(138778,'Experimental MF/BP Leaf Term GOA',NULL,12509,NULL,'GO:0042806|F:fucose binding|IDA; GO:0008201|F:heparin binding|IDA; GO:0001530|F:lipopolysaccharide binding|IMP; GO:0033691|F:sialic acid binding|IDA; GO:0016339|P:calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules|IMP; GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IGI; GO:0050901|P:leukocyte tethering or rolling|IMP; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA',NULL,NULL,NULL,NULL,NULL),(138779,'Experimental MF/BP Leaf Term GOA',NULL,12517,NULL,'GO:0007250|P:activation of NF-kappaB-inducing kinase activity|IMP; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138780,'Experimental MF/BP Leaf Term GOA',NULL,12518,NULL,'GO:0031687|F:A2A adenosine receptor binding|IDA; GO:0031802|F:type 5 metabotropic glutamate receptor binding|IDA; GO:1904021|P:negative regulation of G protein-coupled receptor internalization|IDA; GO:0060168|P:positive regulation of adenosine receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138781,'Experimental MF/BP Leaf Term GOA',NULL,12524,NULL,'GO:0004980|F:melanocyte-stimulating hormone receptor activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0045780|P:positive regulation of bone resorption|IMP',NULL,NULL,NULL,NULL,NULL),(138782,'Experimental MF/BP Leaf Term GOA',NULL,12525,NULL,'GO:0070742|F:C2H2 zinc finger domain binding|IPI; GO:0008327|F:methyl-CpG binding|IDA; GO:0006346|P:methylation-dependent chromatin silencing|IGI',NULL,NULL,NULL,NULL,NULL),(138783,'Experimental MF/BP Leaf Term GOA',NULL,12529,NULL,'GO:0005516|F:calmodulin binding|IPI; GO:0035633|P:maintenance of permeability of blood-brain barrier|IDA; GO:0034115|P:negative regulation of heterotypic cell-cell adhesion|IDA; GO:1904209|P:positive regulation of chemokine (C-C motif) ligand 2 secretion|IDA; GO:2000778|P:positive regulation of interleukin-6 secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138784,'Experimental MF/BP Leaf Term GOA',NULL,12533,NULL,'GO:0032406|F:MutLbeta complex binding|IDA; GO:0032407|F:MutSalpha complex binding|IDA; GO:0032408|F:MutSbeta complex binding|IDA; GO:0050821|P:protein stabilization|IMP; GO:0036298|P:recombinational interstrand cross-link repair|IMP',NULL,NULL,NULL,NULL,NULL),(138785,'Experimental MF/BP Leaf Term GOA',NULL,12535,NULL,'GO:0002151|F:G-quadruplex RNA binding|IDA; GO:0034046|F:poly(G) binding|IDA; GO:0008266|F:poly(U) RNA binding|IDA; GO:0010521|F:telomerase inhibitor activity|IDA; GO:0043984|P:histone H4-K16 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA; GO:1904751|P:positive regulation of protein localization to nucleolus|IDA',NULL,NULL,NULL,NULL,NULL),(138786,'Experimental MF/BP Leaf Term GOA',NULL,12537,NULL,'GO:0051561|P:positive regulation of mitochondrial calcium ion concentration|IDA',NULL,NULL,NULL,NULL,NULL),(138787,'Experimental MF/BP Leaf Term GOA',NULL,12539,NULL,'GO:0099179|P:regulation of synaptic membrane adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(138788,'Experimental MF/BP Leaf Term GOA',NULL,12546,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IDA',NULL,NULL,NULL,NULL,NULL),(138789,'Experimental MF/BP Leaf Term GOA',NULL,12547,NULL,'GO:0008584|P:male gonad development|IEP',NULL,NULL,NULL,NULL,NULL),(138790,'Experimental MF/BP Leaf Term GOA',NULL,12548,NULL,'GO:0031624|F:ubiquitin conjugating enzyme binding|IPI; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(138791,'Experimental MF/BP Leaf Term GOA',NULL,12549,NULL,'GO:0097371|F:MDM2/MDM4 family protein binding|IPI; GO:0031624|F:ubiquitin conjugating enzyme binding|IPI; GO:1902166|P:negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP; GO:1905524|P:negative regulation of protein autoubiquitination|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(138792,'Experimental MF/BP Leaf Term GOA',NULL,12552,NULL,'GO:0090307|P:mitotic spindle assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138793,'Experimental MF/BP Leaf Term GOA',NULL,12553,NULL,'GO:0005537|F:mannose binding|IDA; GO:0001867|P:complement activation, lectin pathway|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0044130|P:negative regulation of growth of symbiont in host|IDA',NULL,NULL,NULL,NULL,NULL),(138794,'Experimental MF/BP Leaf Term GOA',NULL,12555,NULL,'GO:0010385|F:double-stranded methylated DNA binding|IDA; GO:0008327|F:methyl-CpG binding|IDA',NULL,NULL,NULL,NULL,NULL),(138795,'Experimental MF/BP Leaf Term GOA',NULL,12556,NULL,'GO:0070977|P:bone maturation|IMP; GO:1990440|P:positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress|IGI',NULL,NULL,NULL,NULL,NULL),(138796,'Experimental MF/BP Leaf Term GOA',NULL,12565,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(138797,'Experimental MF/BP Leaf Term GOA',NULL,12576,NULL,'GO:0007565|P:female pregnancy|IMP',NULL,NULL,NULL,NULL,NULL),(138798,'Experimental MF/BP Leaf Term GOA',NULL,12578,NULL,'GO:0019911|F:structural constituent of myelin sheath|IDA',NULL,NULL,NULL,NULL,NULL),(138799,'Experimental MF/BP Leaf Term GOA',NULL,12581,NULL,'GO:0005524|F:ATP binding|IDA; GO:0004111|F:creatine kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138800,'Experimental MF/BP Leaf Term GOA',NULL,12582,NULL,'GO:0005524|F:ATP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138801,'Experimental MF/BP Leaf Term GOA',NULL,12583,NULL,'GO:0001855|F:complement component C4b binding|IDA; GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0001867|P:complement activation, lectin pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138802,'Experimental MF/BP Leaf Term GOA',NULL,12584,NULL,'GO:0002039|F:p53 binding|IDA; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(138803,'Experimental MF/BP Leaf Term GOA',NULL,12589,NULL,'GO:2000210|P:positive regulation of anoikis|IMP',NULL,NULL,NULL,NULL,NULL),(138804,'Experimental MF/BP Leaf Term GOA',NULL,12594,NULL,'GO:0034551|P:mitochondrial respiratory chain complex III assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138805,'Experimental MF/BP Leaf Term GOA',NULL,12599,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138806,'Experimental MF/BP Leaf Term GOA',NULL,12600,NULL,'GO:0031435|F:mitogen-activated protein kinase kinase kinase binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0007257|P:activation of JUN kinase activity|IMP',NULL,NULL,NULL,NULL,NULL),(138807,'Experimental MF/BP Leaf Term GOA',NULL,12601,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA; GO:0097194|P:execution phase of apoptosis|IMP; GO:0032483|P:regulation of Rab protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(138808,'Experimental MF/BP Leaf Term GOA',NULL,12603,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(138809,'Experimental MF/BP Leaf Term GOA',NULL,12604,NULL,'GO:2000773|P:negative regulation of cellular senescence|IMP; GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IGI; GO:0071864|P:positive regulation of cell proliferation in bone marrow|IMP',NULL,NULL,NULL,NULL,NULL),(138810,'Experimental MF/BP Leaf Term GOA',NULL,12611,NULL,'GO:0090141|P:positive regulation of mitochondrial fission|IMP; GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(138811,'Experimental MF/BP Leaf Term GOA',NULL,12612,NULL,'GO:0030151|F:molybdenum ion binding|IDA; GO:0043546|F:molybdopterin cofactor binding|IDA',NULL,NULL,NULL,NULL,NULL),(138812,'Experimental MF/BP Leaf Term GOA',NULL,12615,NULL,'GO:0019075|P:virus maturation|IMP',NULL,NULL,NULL,NULL,NULL),(138813,'Experimental MF/BP Leaf Term GOA',NULL,12617,NULL,'GO:0004482|F:mRNA (guanine-N7-)-methyltransferase activity|IDA; GO:0006370|P:7-methylguanosine mRNA capping|IDA',NULL,NULL,NULL,NULL,NULL),(138814,'Experimental MF/BP Leaf Term GOA',NULL,12621,NULL,'GO:0044458|P:motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138815,'Experimental MF/BP Leaf Term GOA',NULL,12622,NULL,'GO:1900745|P:positive regulation of p38MAPK cascade|IDA; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(138816,'Experimental MF/BP Leaf Term GOA',NULL,12623,NULL,'GO:0042775|P:mitochondrial ATP synthesis coupled electron transport|IMP',NULL,NULL,NULL,NULL,NULL),(138817,'Experimental MF/BP Leaf Term GOA',NULL,12627,NULL,'GO:0030151|F:molybdenum ion binding|IDA; GO:0043546|F:molybdopterin cofactor binding|IDA',NULL,NULL,NULL,NULL,NULL),(138818,'Experimental MF/BP Leaf Term GOA',NULL,12630,NULL,'GO:0047184|F:1-acylglycerophosphocholine O-acyltransferase activity|IMP',NULL,NULL,NULL,NULL,NULL),(138819,'Experimental MF/BP Leaf Term GOA',NULL,12634,NULL,'GO:0033787|F:cyanocobalamin reductase (cyanide-eliminating) activity|IDA; GO:0071949|F:FAD binding|IDA; GO:0043295|F:glutathione binding|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(138820,'Experimental MF/BP Leaf Term GOA',NULL,12649,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(138821,'Experimental MF/BP Leaf Term GOA',NULL,12659,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0070830|P:bicellular tight junction assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138822,'Experimental MF/BP Leaf Term GOA',NULL,12664,NULL,'GO:1905394|F:retromer complex binding|IMP',NULL,NULL,NULL,NULL,NULL),(138823,'Experimental MF/BP Leaf Term GOA',NULL,12672,NULL,'GO:0070830|P:bicellular tight junction assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138824,'Experimental MF/BP Leaf Term GOA',NULL,12673,NULL,'GO:0070039|F:rRNA (guanosine-2\'-O-)-methyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138825,'Experimental MF/BP Leaf Term GOA',NULL,12674,NULL,'GO:0008650|F:rRNA (uridine-2\'-O-)-methyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138826,'Experimental MF/BP Leaf Term GOA',NULL,12676,NULL,'GO:0008458|F:carnitine O-octanoyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138827,'Experimental MF/BP Leaf Term GOA',NULL,12690,NULL,'GO:0033743|F:peptide-methionine (R)-S-oxide reductase activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138828,'Experimental MF/BP Leaf Term GOA',NULL,12692,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138829,'Experimental MF/BP Leaf Term GOA',NULL,12696,NULL,'GO:0071294|P:cellular response to zinc ion|IEP',NULL,NULL,NULL,NULL,NULL),(138830,'Experimental MF/BP Leaf Term GOA',NULL,12698,NULL,'GO:0046922|F:peptide-O-fucosyltransferase activity|IDA; GO:0036066|P:protein O-linked fucosylation|IDA',NULL,NULL,NULL,NULL,NULL),(138831,'Experimental MF/BP Leaf Term GOA',NULL,12700,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0032148|P:activation of protein kinase B activity|IDA; GO:0071276|P:cellular response to cadmium ion|IDA; GO:0071456|P:cellular response to hypoxia|IEP; GO:0071732|P:cellular response to nitric oxide|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IDA; GO:0030949|P:positive regulation of vascular endothelial growth factor receptor signaling pathway|IDA; GO:0000060|P:protein import into nucleus, translocation|IDA; GO:0043491|P:protein kinase B signaling|IDA; GO:0050821|P:protein stabilization|IDA; GO:0019430|P:removal of superoxide radicals|IDA',NULL,NULL,NULL,NULL,NULL),(138832,'Experimental MF/BP Leaf Term GOA',NULL,12701,NULL,'GO:0034063|P:stress granule assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138833,'Experimental MF/BP Leaf Term GOA',NULL,12702,NULL,'GO:1901291|P:negative regulation of double-strand break repair via single-strand annealing|IDA',NULL,NULL,NULL,NULL,NULL),(138834,'Experimental MF/BP Leaf Term GOA',NULL,12703,NULL,'GO:0002162|F:dystroglycan binding|IPI',NULL,NULL,NULL,NULL,NULL),(138835,'Experimental MF/BP Leaf Term GOA',NULL,12708,NULL,'GO:0043539|F:protein serine/threonine kinase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(138836,'Experimental MF/BP Leaf Term GOA',NULL,12712,NULL,'GO:0042803|F:protein homodimerization activity|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(138837,'Experimental MF/BP Leaf Term GOA',NULL,12715,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:1900017|P:positive regulation of cytokine production involved in inflammatory response|IDA',NULL,NULL,NULL,NULL,NULL),(138838,'Experimental MF/BP Leaf Term GOA',NULL,12717,NULL,'GO:0002230|P:positive regulation of defense response to virus by host|IDA',NULL,NULL,NULL,NULL,NULL),(138839,'Experimental MF/BP Leaf Term GOA',NULL,12718,NULL,'GO:0046854|P:phosphatidylinositol phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(138840,'Experimental MF/BP Leaf Term GOA',NULL,12729,NULL,'GO:0030350|F:iron-responsive element binding|IMP',NULL,NULL,NULL,NULL,NULL),(138841,'Experimental MF/BP Leaf Term GOA',NULL,12734,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0043588|P:skin development|IMP',NULL,NULL,NULL,NULL,NULL),(138842,'Experimental MF/BP Leaf Term GOA',NULL,12735,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(138843,'Experimental MF/BP Leaf Term GOA',NULL,12736,NULL,'GO:1904262|P:negative regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(138844,'Experimental MF/BP Leaf Term GOA',NULL,12741,NULL,'GO:0097186|P:amelogenesis|IMP; GO:0031581|P:hemidesmosome assembly|IDA; GO:0035878|P:nail development|IMP; GO:0072001|P:renal system development|IMP; GO:0043588|P:skin development|IMP',NULL,NULL,NULL,NULL,NULL),(138845,'Experimental MF/BP Leaf Term GOA',NULL,12743,NULL,'GO:0042532|P:negative regulation of tyrosine phosphorylation of STAT protein|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138846,'Experimental MF/BP Leaf Term GOA',NULL,12744,NULL,'GO:1990763|F:arrestin family protein binding|IPI; GO:0051865|P:protein autoubiquitination|IMP; GO:0035519|P:protein K29-linked ubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(138847,'Experimental MF/BP Leaf Term GOA',NULL,12746,NULL,'GO:0043983|P:histone H4-K12 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(138848,'Experimental MF/BP Leaf Term GOA',NULL,12747,NULL,'GO:0038158|P:granulocyte colony-stimulating factor signaling pathway|IMP; GO:0030223|P:neutrophil differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(138849,'Experimental MF/BP Leaf Term GOA',NULL,12748,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0038110|P:interleukin-2-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138850,'Experimental MF/BP Leaf Term GOA',NULL,12753,NULL,'GO:1903589|P:positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IMP; GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IMP; GO:1900748|P:positive regulation of vascular endothelial growth factor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138851,'Experimental MF/BP Leaf Term GOA',NULL,12771,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(138852,'Experimental MF/BP Leaf Term GOA',NULL,12774,NULL,'GO:1990254|F:keratin filament binding|IPI; GO:0042633|P:hair cycle|IDA',NULL,NULL,NULL,NULL,NULL),(138853,'Experimental MF/BP Leaf Term GOA',NULL,12775,NULL,'GO:0032395|F:MHC class II receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138854,'Experimental MF/BP Leaf Term GOA',NULL,12776,NULL,'GO:0097110|F:scaffold protein binding|IPI; GO:0043000|P:Golgi to plasma membrane CFTR protein transport|IDA',NULL,NULL,NULL,NULL,NULL),(138855,'Experimental MF/BP Leaf Term GOA',NULL,12777,NULL,'GO:0030574|P:collagen catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(138856,'Experimental MF/BP Leaf Term GOA',NULL,12778,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0031532|P:actin cytoskeleton reorganization|IDA',NULL,NULL,NULL,NULL,NULL),(138857,'Experimental MF/BP Leaf Term GOA',NULL,12780,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0110025|P:DNA strand resection involved in replication fork processing|IDA; GO:0032876|P:negative regulation of DNA endoreduplication|IMP; GO:0031860|P:telomeric 3\' overhang formation|IMP',NULL,NULL,NULL,NULL,NULL),(138858,'Experimental MF/BP Leaf Term GOA',NULL,12788,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(138859,'Experimental MF/BP Leaf Term GOA',NULL,12792,NULL,'GO:0060054|P:positive regulation of epithelial cell proliferation involved in wound healing|IEP',NULL,NULL,NULL,NULL,NULL),(138860,'Experimental MF/BP Leaf Term GOA',NULL,12794,NULL,'GO:0070175|P:positive regulation of enamel mineralization|IMP',NULL,NULL,NULL,NULL,NULL),(138861,'Experimental MF/BP Leaf Term GOA',NULL,12796,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(138862,'Experimental MF/BP Leaf Term GOA',NULL,12798,NULL,'GO:0003826|F:alpha-ketoacid dehydrogenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138863,'Experimental MF/BP Leaf Term GOA',NULL,12799,NULL,'GO:0004526|F:ribonuclease P activity|IDA; GO:0097745|P:mitochondrial tRNA 5\'-end processing|IDA',NULL,NULL,NULL,NULL,NULL),(138864,'Experimental MF/BP Leaf Term GOA',NULL,12807,NULL,'GO:0004591|F:oxoglutarate dehydrogenase (succinyl-transferring) activity|IDA; GO:0030976|F:thiamine pyrophosphate binding|IDA; GO:0106077|P:histone succinylation|IDA',NULL,NULL,NULL,NULL,NULL),(138865,'Experimental MF/BP Leaf Term GOA',NULL,12809,NULL,'GO:0106077|P:histone succinylation|IDA',NULL,NULL,NULL,NULL,NULL),(138866,'Experimental MF/BP Leaf Term GOA',NULL,12812,NULL,'GO:0004742|F:dihydrolipoyllysine-residue acetyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138867,'Experimental MF/BP Leaf Term GOA',NULL,12815,NULL,'GO:0043984|P:histone H4-K16 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(138868,'Experimental MF/BP Leaf Term GOA',NULL,12817,NULL,'GO:0043984|P:histone H4-K16 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(138869,'Experimental MF/BP Leaf Term GOA',NULL,12826,NULL,'GO:0002039|F:p53 binding|IPI; GO:0035880|P:embryonic nail plate morphogenesis|IMP; GO:0060325|P:face morphogenesis|IMP; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(138870,'Experimental MF/BP Leaf Term GOA',NULL,12828,NULL,'GO:0071276|P:cellular response to cadmium ion|IEP; GO:0071294|P:cellular response to zinc ion|IEP',NULL,NULL,NULL,NULL,NULL),(138871,'Experimental MF/BP Leaf Term GOA',NULL,12829,NULL,'GO:0071276|P:cellular response to cadmium ion|IEP; GO:0071294|P:cellular response to zinc ion|IEP',NULL,NULL,NULL,NULL,NULL),(138872,'Experimental MF/BP Leaf Term GOA',NULL,12831,NULL,'GO:0046875|F:ephrin receptor binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:0071300|P:cellular response to retinoic acid|IMP; GO:1902961|P:positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process|IMP; GO:0070668|P:positive regulation of mast cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(138873,'Experimental MF/BP Leaf Term GOA',NULL,12835,NULL,'GO:0072540|P:T-helper 17 cell lineage commitment|IDA',NULL,NULL,NULL,NULL,NULL),(138874,'Experimental MF/BP Leaf Term GOA',NULL,12836,NULL,'GO:1903568|P:negative regulation of protein localization to ciliary membrane|IMP',NULL,NULL,NULL,NULL,NULL),(138875,'Experimental MF/BP Leaf Term GOA',NULL,12841,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0007254|P:JNK cascade|IDA',NULL,NULL,NULL,NULL,NULL),(138876,'Experimental MF/BP Leaf Term GOA',NULL,12844,NULL,'GO:0051256|P:mitotic spindle midzone assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138877,'Experimental MF/BP Leaf Term GOA',NULL,12845,NULL,'GO:0004980|F:melanocyte-stimulating hormone receptor activity|IPI',NULL,NULL,NULL,NULL,NULL),(138878,'Experimental MF/BP Leaf Term GOA',NULL,12849,NULL,'GO:0046966|F:thyroid hormone receptor binding|IDA; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(138879,'Experimental MF/BP Leaf Term GOA',NULL,12853,NULL,'GO:1900016|P:negative regulation of cytokine production involved in inflammatory response|IMP; GO:0071641|P:negative regulation of macrophage inflammatory protein 1 alpha production|IMP; GO:1900226|P:negative regulation of NLRP3 inflammasome complex assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138880,'Experimental MF/BP Leaf Term GOA',NULL,12854,NULL,'GO:0050682|F:AF-2 domain binding|IPI; GO:0032448|F:DNA hairpin binding|IDA; GO:0004879|F:nuclear receptor activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0030325|P:adrenal gland development|IMP; GO:0008584|P:male gonad development|IMP',NULL,NULL,NULL,NULL,NULL),(138881,'Experimental MF/BP Leaf Term GOA',NULL,12855,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(138882,'Experimental MF/BP Leaf Term GOA',NULL,12856,NULL,'GO:0020037|F:heme binding|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0034144|P:negative regulation of toll-like receptor 4 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138883,'Experimental MF/BP Leaf Term GOA',NULL,12858,NULL,'GO:0034191|F:apolipoprotein A-I receptor binding|IPI; GO:0051117|F:ATPase binding|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0010887|P:negative regulation of cholesterol storage|IMP; GO:0010875|P:positive regulation of cholesterol efflux|IMP; GO:0051006|P:positive regulation of lipoprotein lipase activity|IMP; GO:0010867|P:positive regulation of triglyceride biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(138884,'Experimental MF/BP Leaf Term GOA',NULL,12859,NULL,'GO:0032810|F:sterol response element binding|IDA; GO:0043277|P:apoptotic cell clearance|IMP; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0042632|P:cholesterol homeostasis|IDA; GO:0010887|P:negative regulation of cholesterol storage|IMP; GO:0010875|P:positive regulation of cholesterol efflux|IDA; GO:0051006|P:positive regulation of lipoprotein lipase activity|IMP; GO:0034145|P:positive regulation of toll-like receptor 4 signaling pathway|IDA; GO:0010867|P:positive regulation of triglyceride biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(138885,'Experimental MF/BP Leaf Term GOA',NULL,12860,NULL,'GO:1902122|F:chenodeoxycholic acid binding|IDA; GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0004879|F:nuclear receptor activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA; GO:0035356|P:cellular triglyceride homeostasis|IDA; GO:0034971|P:histone H3-R17 methylation|IDA; GO:0072615|P:interleukin-17 secretion|IDA; GO:0038185|P:intracellular bile acid receptor signaling pathway|IDA; GO:0070858|P:negative regulation of bile acid biosynthetic process|IDA; GO:1902714|P:negative regulation of interferon-gamma secretion|IDA; GO:1904468|P:negative regulation of tumor necrosis factor secretion|IDA; GO:1905695|P:positive regulation of phosphatidic acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(138886,'Experimental MF/BP Leaf Term GOA',NULL,12861,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0004879|F:nuclear receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138887,'Experimental MF/BP Leaf Term GOA',NULL,12862,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138888,'Experimental MF/BP Leaf Term GOA',NULL,12863,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(138889,'Experimental MF/BP Leaf Term GOA',NULL,12865,NULL,'GO:0002042|P:cell migration involved in sprouting angiogenesis|IDA; GO:0044344|P:cellular response to fibroblast growth factor stimulus|IMP; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(138890,'Experimental MF/BP Leaf Term GOA',NULL,12868,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0070574|P:cadmium ion transmembrane transport|IGI; GO:0006876|P:cellular cadmium ion homeostasis|IGI',NULL,NULL,NULL,NULL,NULL),(138891,'Experimental MF/BP Leaf Term GOA',NULL,12872,NULL,'GO:0006888|P:ER to Golgi vesicle-mediated transport|IDA',NULL,NULL,NULL,NULL,NULL),(138892,'Experimental MF/BP Leaf Term GOA',NULL,12884,NULL,'GO:0051539|F:4 iron, 4 sulfur cluster binding|IDA; GO:0061799|F:cyclic pyranopterin monophosphate synthase activity|IMP; GO:0061798|F:GTP 3\',8\'-cyclase activity|IMP',NULL,NULL,NULL,NULL,NULL),(138893,'Experimental MF/BP Leaf Term GOA',NULL,12888,NULL,'GO:0031788|F:motilin receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(138894,'Experimental MF/BP Leaf Term GOA',NULL,12900,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(138895,'Experimental MF/BP Leaf Term GOA',NULL,12915,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(138896,'Experimental MF/BP Leaf Term GOA',NULL,12926,NULL,'GO:0001730|F:2\'-5\'-oligoadenylate synthetase activity|IDA; GO:0035457|P:cellular response to interferon-alpha|IDA',NULL,NULL,NULL,NULL,NULL),(138897,'Experimental MF/BP Leaf Term GOA',NULL,12927,NULL,'GO:0001730|F:2\'-5\'-oligoadenylate synthetase activity|IDA; GO:0005524|F:ATP binding|IDA',NULL,NULL,NULL,NULL,NULL),(138898,'Experimental MF/BP Leaf Term GOA',NULL,12929,NULL,'GO:0008073|F:ornithine decarboxylase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138899,'Experimental MF/BP Leaf Term GOA',NULL,12930,NULL,'GO:0008073|F:ornithine decarboxylase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138900,'Experimental MF/BP Leaf Term GOA',NULL,12931,NULL,'GO:0031780|F:corticotropin hormone receptor binding|IPI; GO:0070996|F:type 1 melanocortin receptor binding|IPI; GO:0031781|F:type 3 melanocortin receptor binding|IPI; GO:0031782|F:type 4 melanocortin receptor binding|IPI; GO:0031783|F:type 5 melanocortin receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(138901,'Experimental MF/BP Leaf Term GOA',NULL,12932,NULL,'GO:0031780|F:corticotropin hormone receptor binding|IPI; GO:0070996|F:type 1 melanocortin receptor binding|IPI; GO:0031781|F:type 3 melanocortin receptor binding|IPI; GO:0031782|F:type 4 melanocortin receptor binding|IPI; GO:0031783|F:type 5 melanocortin receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(138902,'Experimental MF/BP Leaf Term GOA',NULL,12937,NULL,'GO:0030506|F:ankyrin binding|IPI; GO:0031432|F:titin binding|IPI',NULL,NULL,NULL,NULL,NULL),(138903,'Experimental MF/BP Leaf Term GOA',NULL,12947,NULL,'GO:0020037|F:heme binding|IDA',NULL,NULL,NULL,NULL,NULL),(138904,'Experimental MF/BP Leaf Term GOA',NULL,12952,NULL,'GO:0050957|P:equilibrioception|IMP; GO:0045494|P:photoreceptor cell maintenance|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(138905,'Experimental MF/BP Leaf Term GOA',NULL,12953,NULL,'GO:0045294|F:alpha-catenin binding|IPI; GO:0008013|F:beta-catenin binding|IPI; GO:0070097|F:delta-catenin binding|IPI',NULL,NULL,NULL,NULL,NULL),(138906,'Experimental MF/BP Leaf Term GOA',NULL,12956,NULL,'GO:0050681|F:androgen receptor binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071157|P:negative regulation of cell cycle arrest|IGI; GO:0048387|P:negative regulation of retinoic acid receptor signaling pathway|IDA; GO:1901164|P:negative regulation of trophoblast cell migration|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(138907,'Experimental MF/BP Leaf Term GOA',NULL,12959,NULL,'GO:0043395|F:heparan sulfate proteoglycan binding|IDA; GO:0008201|F:heparin binding|IMP; GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IGI; GO:0050754|P:positive regulation of fractalkine biosynthetic process|IDA; GO:0050725|P:positive regulation of interleukin-1 beta biosynthetic process|IDA; GO:0045348|P:positive regulation of MHC class II biosynthetic process|IEP; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IDA; GO:0042535|P:positive regulation of tumor necrosis factor biosynthetic process|IDA; GO:0070528|P:protein kinase C signaling|IMP',NULL,NULL,NULL,NULL,NULL),(138908,'Experimental MF/BP Leaf Term GOA',NULL,12960,NULL,'GO:0010265|P:SCF complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138909,'Experimental MF/BP Leaf Term GOA',NULL,12961,NULL,'GO:0050700|F:CARD domain binding|IPI; GO:0071346|P:cellular response to interferon-gamma|IMP; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:1903265|P:positive regulation of tumor necrosis factor-mediated signaling pathway|IMP; GO:0016540|P:protein autoprocessing|IDA',NULL,NULL,NULL,NULL,NULL),(138910,'Experimental MF/BP Leaf Term GOA',NULL,12970,NULL,'GO:0036158|P:outer dynein arm assembly|IMP',NULL,NULL,NULL,NULL,NULL),(138911,'Experimental MF/BP Leaf Term GOA',NULL,12985,NULL,'GO:0060213|P:positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|IDA',NULL,NULL,NULL,NULL,NULL),(138912,'Experimental MF/BP Leaf Term GOA',NULL,12989,NULL,'GO:0004252|F:serine-type endopeptidase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138913,'Experimental MF/BP Leaf Term GOA',NULL,12990,NULL,'GO:0001849|F:complement component C1q binding|IDA; GO:0005540|F:hyaluronic acid binding|IDA; GO:0042256|P:mature ribosome assembly|IMP; GO:0039534|P:negative regulation of MDA-5 signaling pathway|IDA; GO:0039536|P:negative regulation of RIG-I signaling pathway|IDA; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IMP; GO:0090023|P:positive regulation of neutrophil chemotaxis|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP; GO:1901165|P:positive regulation of trophoblast cell migration|IMP',NULL,NULL,NULL,NULL,NULL),(138914,'Experimental MF/BP Leaf Term GOA',NULL,12998,NULL,'GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:0033626|P:positive regulation of integrin activation by cell surface receptor linked signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(138915,'Experimental MF/BP Leaf Term GOA',NULL,12999,NULL,'GO:0030506|F:ankyrin binding|IPI; GO:0008013|F:beta-catenin binding|IDA; GO:0045295|F:gamma-catenin binding|IPI; GO:0032794|F:GTPase activating protein binding|IPI; GO:0071681|P:cellular response to indole-3-methanol|IDA; GO:0071285|P:cellular response to lithium ion|IDA; GO:0042307|P:positive regulation of protein import into nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(138916,'Experimental MF/BP Leaf Term GOA',NULL,13000,NULL,'GO:0070087|F:chromo shadow domain binding|IPI; GO:0006335|P:DNA replication-dependent nucleosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138917,'Experimental MF/BP Leaf Term GOA',NULL,13005,NULL,'GO:0051639|P:actin filament network formation|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(138918,'Experimental MF/BP Leaf Term GOA',NULL,13007,NULL,'GO:0030574|P:collagen catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(138919,'Experimental MF/BP Leaf Term GOA',NULL,13016,NULL,'GO:0070577|F:lysine-acetylated histone binding|IDA',NULL,NULL,NULL,NULL,NULL),(138920,'Experimental MF/BP Leaf Term GOA',NULL,13018,NULL,'GO:0020037|F:heme binding|IDA; GO:0004507|F:steroid 11-beta-monooxygenase activity|IDA; GO:0032342|P:aldosterone biosynthetic process|IDA; GO:0035865|P:cellular response to potassium ion|IEP; GO:0034651|P:cortisol biosynthetic process|IMP; GO:0002017|P:regulation of blood volume by renal aldosterone|IMP',NULL,NULL,NULL,NULL,NULL),(138921,'Experimental MF/BP Leaf Term GOA',NULL,13019,NULL,'GO:0016263|F:glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138922,'Experimental MF/BP Leaf Term GOA',NULL,13025,NULL,'GO:0035356|P:cellular triglyceride homeostasis|IDA; GO:0045721|P:negative regulation of gluconeogenesis|IDA; GO:1900165|P:negative regulation of interleukin-6 secretion|IDA; GO:0071638|P:negative regulation of monocyte chemotactic protein-1 production|IDA; GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IDA; GO:0070165|P:positive regulation of adiponectin secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138923,'Experimental MF/BP Leaf Term GOA',NULL,13027,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(138924,'Experimental MF/BP Leaf Term GOA',NULL,13028,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:1901098|P:positive regulation of autophagosome maturation|IMP; GO:0098792|P:xenophagy|IMP',NULL,NULL,NULL,NULL,NULL),(138925,'Experimental MF/BP Leaf Term GOA',NULL,13034,NULL,'GO:0055103|F:ligase regulator activity|IDA; GO:0031432|F:titin binding|IPI; GO:1990092|P:calcium-dependent self proteolysis|IDA; GO:0031648|P:protein destabilization|IMP',NULL,NULL,NULL,NULL,NULL),(138926,'Experimental MF/BP Leaf Term GOA',NULL,13035,NULL,'GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(138927,'Experimental MF/BP Leaf Term GOA',NULL,13036,NULL,'GO:0071277|P:cellular response to calcium ion|IDA; GO:0035865|P:cellular response to potassium ion|IDA; GO:0061400|P:positive regulation of transcription from RNA polymerase II promoter in response to calcium ion|IDA',NULL,NULL,NULL,NULL,NULL),(138928,'Experimental MF/BP Leaf Term GOA',NULL,13039,NULL,'GO:0047025|F:3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity|IMP; GO:0003955|F:NAD(P)H dehydrogenase (quinone) activity|IDA; GO:0070402|F:NADPH binding|IDA; GO:0008753|F:NADPH dehydrogenase (quinone) activity|IDA; GO:0044598|P:doxorubicin metabolic process|IMP; GO:0051290|P:protein heterotetramerization|IDA; GO:0051289|P:protein homotetramerization|IPI',NULL,NULL,NULL,NULL,NULL),(138929,'Experimental MF/BP Leaf Term GOA',NULL,13046,NULL,'GO:0097602|F:cullin family protein binding|IDA; GO:0007253|P:cytoplasmic sequestering of NF-kappaB|IMP',NULL,NULL,NULL,NULL,NULL),(138930,'Experimental MF/BP Leaf Term GOA',NULL,13053,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138931,'Experimental MF/BP Leaf Term GOA',NULL,13055,NULL,'GO:0001849|F:complement component C1q binding|IDA',NULL,NULL,NULL,NULL,NULL),(138932,'Experimental MF/BP Leaf Term GOA',NULL,13060,NULL,'GO:0004092|F:carnitine O-acetyltransferase activity|IDA; GO:0019254|P:carnitine metabolic process, CoA-linked|IDA',NULL,NULL,NULL,NULL,NULL),(138933,'Experimental MF/BP Leaf Term GOA',NULL,13062,NULL,'GO:0008332|F:low voltage-gated calcium channel activity|IDA; GO:0097110|F:scaffold protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(138934,'Experimental MF/BP Leaf Term GOA',NULL,13069,NULL,'GO:0045294|F:alpha-catenin binding|IDA; GO:0008013|F:beta-catenin binding|IDA; GO:0070097|F:delta-catenin binding|IDA',NULL,NULL,NULL,NULL,NULL),(138935,'Experimental MF/BP Leaf Term GOA',NULL,13070,NULL,'GO:0004064|F:arylesterase activity|IMP; GO:0004089|F:carbonate dehydratase activity|IMP',NULL,NULL,NULL,NULL,NULL),(138936,'Experimental MF/BP Leaf Term GOA',NULL,13072,NULL,'GO:0045294|F:alpha-catenin binding|IPI; GO:0008013|F:beta-catenin binding|IPI; GO:0045295|F:gamma-catenin binding|IPI',NULL,NULL,NULL,NULL,NULL),(138937,'Experimental MF/BP Leaf Term GOA',NULL,13073,NULL,'GO:0005516|F:calmodulin binding|IPI; GO:0008331|F:high voltage-gated calcium channel activity|IDA; GO:0086056|F:voltage-gated calcium channel activity involved in AV node cell action potential|IMP; GO:0061577|P:calcium ion transmembrane transport via high voltage-gated calcium channel|IDA; GO:0035115|P:embryonic forelimb morphogenesis|IMP; GO:0002520|P:immune system development|IMP; GO:0098912|P:membrane depolarization during atrial cardiac muscle cell action potential|IMP; GO:0086045|P:membrane depolarization during AV node cell action potential|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(138938,'Experimental MF/BP Leaf Term GOA',NULL,13077,NULL,'GO:0050700|F:CARD domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(138939,'Experimental MF/BP Leaf Term GOA',NULL,13078,NULL,'GO:0050700|F:CARD domain binding|IPI; GO:0089720|F:caspase binding|IPI; GO:0071456|P:cellular response to hypoxia|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071494|P:cellular response to UV-C|IDA; GO:0050713|P:negative regulation of interleukin-1 beta secretion|IDA; GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138940,'Experimental MF/BP Leaf Term GOA',NULL,13079,NULL,'GO:0089720|F:caspase binding|IPI; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0050713|P:negative regulation of interleukin-1 beta secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138941,'Experimental MF/BP Leaf Term GOA',NULL,13080,NULL,'GO:0050700|F:CARD domain binding|IPI; GO:0089720|F:caspase binding|IPI; GO:0050713|P:negative regulation of interleukin-1 beta secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138942,'Experimental MF/BP Leaf Term GOA',NULL,13081,NULL,'GO:0007595|P:lactation|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(138943,'Experimental MF/BP Leaf Term GOA',NULL,13085,NULL,'GO:0097643|F:amylin receptor activity|IPI; GO:0032841|F:calcitonin binding|IDA; GO:0001635|F:calcitonin gene-related peptide receptor activity|IPI; GO:0004948|F:calcitonin receptor activity|IDA; GO:0038041|P:cross-receptor inhibition within G protein-coupled receptor heterodimer|IPI; GO:1905665|P:positive regulation of calcium ion import across plasma membrane|IGI; GO:0010739|P:positive regulation of protein kinase A signaling|IGI; GO:0051897|P:positive regulation of protein kinase B signaling|IGI',NULL,NULL,NULL,NULL,NULL),(138944,'Experimental MF/BP Leaf Term GOA',NULL,13087,NULL,'GO:0016018|F:cyclosporin A binding|IDA; GO:0033173|P:calcineurin-NFAT signaling cascade|IDA',NULL,NULL,NULL,NULL,NULL),(138945,'Experimental MF/BP Leaf Term GOA',NULL,13088,NULL,'GO:0004198|F:calcium-dependent cysteine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138946,'Experimental MF/BP Leaf Term GOA',NULL,13090,NULL,'GO:0051011|F:microtubule minus-end binding|IDA',NULL,NULL,NULL,NULL,NULL),(138947,'Experimental MF/BP Leaf Term GOA',NULL,13091,NULL,'GO:0051639|P:actin filament network formation|IDA; GO:2000813|P:negative regulation of barbed-end actin filament capping|IDA; GO:0090091|P:positive regulation of extracellular matrix disassembly|IDA; GO:0010592|P:positive regulation of lamellipodium assembly|IDA; GO:1900029|P:positive regulation of ruffle assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138948,'Experimental MF/BP Leaf Term GOA',NULL,13093,NULL,'GO:0071253|F:connexin binding|IDA; GO:0044325|F:ion channel binding|IPI; GO:0008022|F:protein C-terminus binding|IDA; GO:0070836|P:caveola assembly|IDA; GO:0045792|P:negative regulation of cell size|IMP; GO:0060299|P:negative regulation of sarcomere organization|IMP; GO:0098909|P:regulation of cardiac muscle cell action potential involved in regulation of contraction|IMP; GO:0060373|P:regulation of ventricular cardiac muscle cell membrane depolarization|IDA',NULL,NULL,NULL,NULL,NULL),(138949,'Experimental MF/BP Leaf Term GOA',NULL,13097,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0005513|P:detection of calcium ion|IDA',NULL,NULL,NULL,NULL,NULL),(138950,'Experimental MF/BP Leaf Term GOA',NULL,13098,NULL,'GO:0001784|F:phosphotyrosine residue binding|IDA; GO:0017124|F:SH3 domain binding|IDA; GO:0007175|P:negative regulation of epidermal growth factor-activated receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(138951,'Experimental MF/BP Leaf Term GOA',NULL,13100,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0001947|P:heart looping|IMP; GO:0036159|P:inner dynein arm assembly|IGI; GO:0036158|P:outer dynein arm assembly|IGI',NULL,NULL,NULL,NULL,NULL),(138952,'Experimental MF/BP Leaf Term GOA',NULL,13102,NULL,'GO:0015247|F:aminophospholipid transmembrane transporter activity|IDA; GO:0015917|P:aminophospholipid transport|IDA',NULL,NULL,NULL,NULL,NULL),(138953,'Experimental MF/BP Leaf Term GOA',NULL,13105,NULL,'GO:0004122|F:cystathionine beta-synthase activity|IDA; GO:0020037|F:heme binding|IDA; GO:0050421|F:nitrite reductase (NO-forming) activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0030170|F:pyridoxal phosphate binding|IDA; GO:1904047|F:S-adenosyl-L-methionine binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0042262|P:DNA protection|IMP; GO:0043418|P:homocysteine catabolic process|IDA; GO:0070814|P:hydrogen sulfide biosynthetic process|IDA; GO:0006565|P:L-serine catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(138954,'Experimental MF/BP Leaf Term GOA',NULL,13110,NULL,'GO:0043653|P:mitochondrial fragmentation involved in apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(138955,'Experimental MF/BP Leaf Term GOA',NULL,13113,NULL,'GO:0001946|P:lymphangiogenesis|IMP; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IDA; GO:1900748|P:positive regulation of vascular endothelial growth factor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138956,'Experimental MF/BP Leaf Term GOA',NULL,13126,NULL,'GO:0098912|P:membrane depolarization during atrial cardiac muscle cell action potential|IMP; GO:0086045|P:membrane depolarization during AV node cell action potential|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(138957,'Experimental MF/BP Leaf Term GOA',NULL,13130,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(138958,'Experimental MF/BP Leaf Term GOA',NULL,13132,NULL,'GO:0004064|F:arylesterase activity|IMP; GO:0004089|F:carbonate dehydratase activity|IMP; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(138959,'Experimental MF/BP Leaf Term GOA',NULL,13133,NULL,'GO:0004198|F:calcium-dependent cysteine-type endopeptidase activity|IMP; GO:0032869|P:cellular response to insulin stimulus|IMP; GO:0046326|P:positive regulation of glucose import|IMP; GO:0097050|P:type B pancreatic cell apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(138960,'Experimental MF/BP Leaf Term GOA',NULL,13134,NULL,'GO:1990409|F:adrenomedullin binding|IPI; GO:0001605|F:adrenomedullin receptor activity|IPI; GO:0001635|F:calcitonin gene-related peptide receptor activity|IPI; GO:1990410|P:adrenomedullin receptor signaling pathway|IPI; GO:1990408|P:calcitonin gene-related peptide receptor signaling pathway|IPI; GO:0071329|P:cellular response to sucrose stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(138961,'Experimental MF/BP Leaf Term GOA',NULL,13136,NULL,'GO:0043262|F:adenosine-diphosphatase activity|IDA; GO:0004382|F:guanosine-diphosphatase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138962,'Experimental MF/BP Leaf Term GOA',NULL,13139,NULL,'GO:0007595|P:lactation|IDA',NULL,NULL,NULL,NULL,NULL),(138963,'Experimental MF/BP Leaf Term GOA',NULL,13140,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(138964,'Experimental MF/BP Leaf Term GOA',NULL,13141,NULL,'GO:0097199|F:cysteine-type endopeptidase activity involved in apoptotic signaling pathway|IMP; GO:0097200|F:cysteine-type endopeptidase activity involved in execution phase of apoptosis|IMP; GO:0072734|P:cellular response to staurosporine|IMP; GO:0097194|P:execution phase of apoptosis|IDA; GO:0048011|P:neurotrophin TRK receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138965,'Experimental MF/BP Leaf Term GOA',NULL,13142,NULL,'GO:0097200|F:cysteine-type endopeptidase activity involved in execution phase of apoptosis|IMP; GO:0072734|P:cellular response to staurosporine|IMP',NULL,NULL,NULL,NULL,NULL),(138966,'Experimental MF/BP Leaf Term GOA',NULL,13143,NULL,'GO:0050700|F:CARD domain binding|IPI; GO:1904646|P:cellular response to amyloid-beta|IMP; GO:1903265|P:positive regulation of tumor necrosis factor-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138967,'Experimental MF/BP Leaf Term GOA',NULL,13144,NULL,'GO:0050700|F:CARD domain binding|IPI; GO:0008656|F:cysteine-type endopeptidase activator activity involved in apoptotic process|IDA; GO:0032089|F:NACHT domain binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0050713|P:negative regulation of interleukin-1 beta secretion|IDA; GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IMP; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA',NULL,NULL,NULL,NULL,NULL),(138968,'Experimental MF/BP Leaf Term GOA',NULL,13147,NULL,'GO:0004507|F:steroid 11-beta-monooxygenase activity|IDA; GO:0032342|P:aldosterone biosynthetic process|IDA; GO:0035865|P:cellular response to potassium ion|IEP; GO:0034651|P:cortisol biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(138969,'Experimental MF/BP Leaf Term GOA',NULL,13154,NULL,'GO:0061811|F:ADP-ribosyl cyclase activity|IDA; GO:0061812|F:cyclic ADP-ribose hydrolase|IDA',NULL,NULL,NULL,NULL,NULL),(138970,'Experimental MF/BP Leaf Term GOA',NULL,13155,NULL,'GO:0120017|F:intermembrane ceramide transfer activity|IDA; GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0035621|P:ER to Golgi ceramide transport|IMP; GO:0120012|P:intermembrane sphingolipid transfer|IDA',NULL,NULL,NULL,NULL,NULL),(138971,'Experimental MF/BP Leaf Term GOA',NULL,13157,NULL,'GO:0002528|P:regulation of vascular permeability involved in acute inflammatory response|IDA',NULL,NULL,NULL,NULL,NULL),(138972,'Experimental MF/BP Leaf Term GOA',NULL,13159,NULL,'GO:0004878|F:complement component C5a receptor activity|IDA; GO:0038178|P:complement component C5a signaling pathway|IDA; GO:0042789|P:mRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(138973,'Experimental MF/BP Leaf Term GOA',NULL,13166,NULL,'GO:0043539|F:protein serine/threonine kinase activator activity|IDA; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(138974,'Experimental MF/BP Leaf Term GOA',NULL,13169,NULL,'GO:0030169|F:low-density lipoprotein particle binding|IDA; GO:0016339|P:calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules|IDA; GO:0007156|P:homophilic cell adhesion via plasma membrane adhesion molecules|IDA; GO:0043616|P:keratinocyte proliferation|IDA; GO:0055096|P:low-density lipoprotein particle mediated signaling|IDA; GO:0016601|P:Rac protein signal transduction|IMP; GO:0002040|P:sprouting angiogenesis|IDA',NULL,NULL,NULL,NULL,NULL),(138975,'Experimental MF/BP Leaf Term GOA',NULL,13172,NULL,'GO:0098974|P:postsynaptic actin cytoskeleton organization|IDA',NULL,NULL,NULL,NULL,NULL),(138976,'Experimental MF/BP Leaf Term GOA',NULL,13174,NULL,'GO:0031716|F:calcitonin receptor binding|IPI; GO:0007566|P:embryo implantation|IDA; GO:0002548|P:monocyte chemotaxis|IDA; GO:0045779|P:negative regulation of bone resorption|IDA; GO:0051482|P:positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(138977,'Experimental MF/BP Leaf Term GOA',NULL,13175,NULL,'GO:0015701|P:bicarbonate transport|IMP',NULL,NULL,NULL,NULL,NULL),(138978,'Experimental MF/BP Leaf Term GOA',NULL,13178,NULL,'GO:0032051|F:clathrin light chain binding|IDA',NULL,NULL,NULL,NULL,NULL),(138979,'Experimental MF/BP Leaf Term GOA',NULL,13183,NULL,'GO:0034970|P:histone H3-R2 methylation|IMP',NULL,NULL,NULL,NULL,NULL),(138980,'Experimental MF/BP Leaf Term GOA',NULL,13184,NULL,'GO:0050700|F:CARD domain binding|IPI; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(138981,'Experimental MF/BP Leaf Term GOA',NULL,13190,NULL,'GO:0070573|F:metallodipeptidase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(138982,'Experimental MF/BP Leaf Term GOA',NULL,13195,NULL,'GO:0015247|F:aminophospholipid transmembrane transporter activity|IDA; GO:0015917|P:aminophospholipid transport|IDA',NULL,NULL,NULL,NULL,NULL),(138983,'Experimental MF/BP Leaf Term GOA',NULL,13199,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:2000234|P:positive regulation of rRNA processing|IMP; GO:0070476|P:rRNA (guanine-N7)-methylation|IMP',NULL,NULL,NULL,NULL,NULL),(138984,'Experimental MF/BP Leaf Term GOA',NULL,13203,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0045345|P:positive regulation of MHC class I biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(138985,'Experimental MF/BP Leaf Term GOA',NULL,13204,NULL,'GO:0008191|F:metalloendopeptidase inhibitor activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:1901253|P:negative regulation of intracellular transport of viral material|IDA; GO:0002737|P:negative regulation of plasmacytoid dendritic cell cytokine production|IDA',NULL,NULL,NULL,NULL,NULL),(138986,'Experimental MF/BP Leaf Term GOA',NULL,13205,NULL,'GO:0002528|P:regulation of vascular permeability involved in acute inflammatory response|IDA',NULL,NULL,NULL,NULL,NULL),(138987,'Experimental MF/BP Leaf Term GOA',NULL,13207,NULL,'GO:0032184|F:SUMO polymer binding|IDA; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0036337|P:Fas signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138988,'Experimental MF/BP Leaf Term GOA',NULL,13213,NULL,'GO:2001268|P:negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(138989,'Experimental MF/BP Leaf Term GOA',NULL,13217,NULL,'GO:1904646|P:cellular response to amyloid-beta|IGI',NULL,NULL,NULL,NULL,NULL),(138990,'Experimental MF/BP Leaf Term GOA',NULL,13221,NULL,'GO:0006335|P:DNA replication-dependent nucleosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(138991,'Experimental MF/BP Leaf Term GOA',NULL,13222,NULL,'GO:0008270|F:zinc ion binding|IMP; GO:0007616|P:long-term memory|IMP; GO:0007614|P:short-term memory|IMP',NULL,NULL,NULL,NULL,NULL),(138992,'Experimental MF/BP Leaf Term GOA',NULL,13223,NULL,'GO:0086059|F:voltage-gated calcium channel activity involved SA node cell action potential|IMP; GO:0086046|P:membrane depolarization during SA node cell action potential|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(138993,'Experimental MF/BP Leaf Term GOA',NULL,13224,NULL,'GO:0019732|P:antifungal humoral response|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0051838|P:cytolysis by host of symbiont cells|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002227|P:innate immune response in mucosa|IDA; GO:0044140|P:negative regulation of growth of symbiont on or near host surface|IDA; GO:2000484|P:positive regulation of interleukin-8 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(138994,'Experimental MF/BP Leaf Term GOA',NULL,13228,NULL,'GO:0004198|F:calcium-dependent cysteine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(138995,'Experimental MF/BP Leaf Term GOA',NULL,13230,NULL,'GO:0003876|F:AMP deaminase activity|EXP',NULL,NULL,NULL,NULL,NULL),(138996,'Experimental MF/BP Leaf Term GOA',NULL,13231,NULL,'GO:0070301|P:cellular response to hydrogen peroxide|IMP',NULL,NULL,NULL,NULL,NULL),(138997,'Experimental MF/BP Leaf Term GOA',NULL,13233,NULL,'GO:0030297|F:transmembrane receptor protein tyrosine kinase activator activity|IDA; GO:0071456|P:cellular response to hypoxia|IEP',NULL,NULL,NULL,NULL,NULL),(138998,'Experimental MF/BP Leaf Term GOA',NULL,13238,NULL,'GO:0030742|F:GTP-dependent protein binding|IPI; GO:0035646|P:endosome to melanosome transport|IMP; GO:0090160|P:Golgi to lysosome transport|IMP; GO:0043323|P:positive regulation of natural killer cell degranulation|IMP',NULL,NULL,NULL,NULL,NULL),(138999,'Experimental MF/BP Leaf Term GOA',NULL,13239,NULL,'GO:0051005|P:negative regulation of lipoprotein lipase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139000,'Experimental MF/BP Leaf Term GOA',NULL,13240,NULL,'GO:0017147|F:Wnt-protein binding|IDA; GO:0001942|P:hair follicle development|IMP',NULL,NULL,NULL,NULL,NULL),(139001,'Experimental MF/BP Leaf Term GOA',NULL,13241,NULL,'GO:0044020|F:histone methyltransferase activity (H4-R3 specific)|IMP; GO:0008327|F:methyl-CpG binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0035243|F:protein-arginine omega-N symmetric methyltransferase activity|IMP; GO:1904992|P:positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway|IGI',NULL,NULL,NULL,NULL,NULL),(139002,'Experimental MF/BP Leaf Term GOA',NULL,13243,NULL,'GO:0070653|F:high-density lipoprotein particle receptor binding|IPI; GO:0033344|P:cholesterol efflux|IDA; GO:0042632|P:cholesterol homeostasis|IMP; GO:0034382|P:chylomicron remnant clearance|IDA; GO:0060621|P:negative regulation of cholesterol import|IMP; GO:0010987|P:negative regulation of high-density lipoprotein particle clearance|IMP; GO:0051005|P:negative regulation of lipoprotein lipase activity|IDA; GO:0010989|P:negative regulation of low-density lipoprotein particle clearance|IMP; GO:0010897|P:negative regulation of triglyceride catabolic process|IDA; GO:0010916|P:negative regulation of very-low-density lipoprotein particle clearance|IDA; GO:0010903|P:negative regulation of very-low-density lipoprotein particle remodeling|IDA; GO:0033700|P:phospholipid efflux|IDA; GO:0032489|P:regulation of Cdc42 protein signal transduction|IDA; GO:0019433|P:triglyceride catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139003,'Experimental MF/BP Leaf Term GOA',NULL,13244,NULL,'GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139004,'Experimental MF/BP Leaf Term GOA',NULL,13249,NULL,'GO:0034237|F:protein kinase A regulatory subunit binding|IDA; GO:0010256|P:endomembrane system organization|IMP; GO:0034260|P:negative regulation of GTPase activity|IDA; GO:0090284|P:positive regulation of protein glycosylation in Golgi|IMP',NULL,NULL,NULL,NULL,NULL),(139005,'Experimental MF/BP Leaf Term GOA',NULL,13250,NULL,'GO:0003680|F:AT DNA binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0071493|P:cellular response to UV-B|IDA; GO:0060741|P:prostate gland stromal morphogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(139006,'Experimental MF/BP Leaf Term GOA',NULL,13253,NULL,'GO:0070700|F:BMP receptor binding|IDA; GO:0039706|F:co-receptor binding|IPI; GO:0046982|F:protein heterodimerization activity|IDA; GO:0003130|P:BMP signaling pathway involved in heart induction|IDA; GO:0035630|P:bone mineralization involved in bone maturation|IDA; GO:0071773|P:cellular response to BMP stimulus|IDA; GO:0032348|P:negative regulation of aldosterone biosynthetic process|IDA; GO:0051042|P:negative regulation of calcium-independent cell-cell adhesion|IDA; GO:2000065|P:negative regulation of cortisol biosynthetic process|IDA; GO:0043569|P:negative regulation of insulin-like growth factor receptor signaling pathway|IDA; GO:0001649|P:osteoblast differentiation|IDA; GO:0060389|P:pathway-restricted SMAD protein phosphorylation|IDA; GO:1900745|P:positive regulation of p38MAPK cascade|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0060395|P:SMAD protein signal transduction|IDA; GO:0021537|P:telencephalon development|IDA',NULL,NULL,NULL,NULL,NULL),(139007,'Experimental MF/BP Leaf Term GOA',NULL,13256,NULL,'GO:0035646|P:endosome to melanosome transport|IDA; GO:0032402|P:melanosome transport|IDA',NULL,NULL,NULL,NULL,NULL),(139008,'Experimental MF/BP Leaf Term GOA',NULL,13257,NULL,'GO:0051721|F:protein phosphatase 2A binding|IPI; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1990758|P:mitotic sister chromatid biorientation|IMP; GO:0071962|P:mitotic sister chromatid cohesion, centromeric|IMP',NULL,NULL,NULL,NULL,NULL),(139009,'Experimental MF/BP Leaf Term GOA',NULL,13258,NULL,'GO:0001836|P:release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(139010,'Experimental MF/BP Leaf Term GOA',NULL,13259,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0071279|P:cellular response to cobalt ion|IMP; GO:0071456|P:cellular response to hypoxia|IMP; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0008626|P:granzyme-mediated apoptotic signaling pathway|IDA; GO:1990144|P:intrinsic apoptotic signaling pathway in response to hypoxia|IMP; GO:0043653|P:mitochondrial fragmentation involved in apoptotic process|IDA; GO:0097345|P:mitochondrial outer membrane permeabilization|IDA; GO:0035694|P:mitochondrial protein catabolic process|IMP; GO:0010637|P:negative regulation of mitochondrial fusion|IDA; GO:0090141|P:positive regulation of mitochondrial fission|IDA; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(139011,'Experimental MF/BP Leaf Term GOA',NULL,13260,NULL,'GO:0007420|P:brain development|IMP',NULL,NULL,NULL,NULL,NULL),(139012,'Experimental MF/BP Leaf Term GOA',NULL,13261,NULL,'GO:0001530|F:lipopolysaccharide binding|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(139013,'Experimental MF/BP Leaf Term GOA',NULL,13262,NULL,'GO:0036122|F:BMP binding|IPI; GO:0071773|P:cellular response to BMP stimulus|IMP; GO:0072577|P:endothelial cell apoptotic process|IMP; GO:1902731|P:negative regulation of chondrocyte proliferation|IMP; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(139014,'Experimental MF/BP Leaf Term GOA',NULL,13263,NULL,'GO:0002039|F:p53 binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1900364|P:negative regulation of mRNA polyadenylation|IMP',NULL,NULL,NULL,NULL,NULL),(139015,'Experimental MF/BP Leaf Term GOA',NULL,13264,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1900364|P:negative regulation of mRNA polyadenylation|IMP',NULL,NULL,NULL,NULL,NULL),(139016,'Experimental MF/BP Leaf Term GOA',NULL,13265,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IMP; GO:0070537|P:histone H2A K63-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139017,'Experimental MF/BP Leaf Term GOA',NULL,13268,NULL,'GO:0070577|F:lysine-acetylated histone binding|IDA; GO:0002039|F:p53 binding|IPI',NULL,NULL,NULL,NULL,NULL),(139018,'Experimental MF/BP Leaf Term GOA',NULL,13273,NULL,'GO:0070888|F:E-box binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(139019,'Experimental MF/BP Leaf Term GOA',NULL,13275,NULL,'GO:0070888|F:E-box binding|IDA',NULL,NULL,NULL,NULL,NULL),(139020,'Experimental MF/BP Leaf Term GOA',NULL,13279,NULL,'GO:0002024|P:diet induced thermogenesis|IDA; GO:0097009|P:energy homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(139021,'Experimental MF/BP Leaf Term GOA',NULL,13280,NULL,'GO:0002043|P:blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IDA',NULL,NULL,NULL,NULL,NULL),(139022,'Experimental MF/BP Leaf Term GOA',NULL,13281,NULL,'GO:0005524|F:ATP binding|IDA; GO:0071773|P:cellular response to BMP stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(139023,'Experimental MF/BP Leaf Term GOA',NULL,13294,NULL,'GO:0035774|P:positive regulation of insulin secretion involved in cellular response to glucose stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(139024,'Experimental MF/BP Leaf Term GOA',NULL,13295,NULL,'GO:0005544|F:calcium-dependent phospholipid binding|IDA; GO:0032869|P:cellular response to insulin stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(139025,'Experimental MF/BP Leaf Term GOA',NULL,13299,NULL,'GO:0008331|F:high voltage-gated calcium channel activity|IDA; GO:0050908|P:detection of light stimulus involved in visual perception|IMP',NULL,NULL,NULL,NULL,NULL),(139026,'Experimental MF/BP Leaf Term GOA',NULL,13300,NULL,'GO:0050908|P:detection of light stimulus involved in visual perception|IMP',NULL,NULL,NULL,NULL,NULL),(139027,'Experimental MF/BP Leaf Term GOA',NULL,13302,NULL,'GO:0000082|P:G1/S transition of mitotic cell cycle|IMP',NULL,NULL,NULL,NULL,NULL),(139028,'Experimental MF/BP Leaf Term GOA',NULL,13304,NULL,'GO:1990172|P:G protein-coupled receptor catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(139029,'Experimental MF/BP Leaf Term GOA',NULL,13305,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0070888|F:E-box binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0032922|P:circadian regulation of gene expression|IDA',NULL,NULL,NULL,NULL,NULL),(139030,'Experimental MF/BP Leaf Term GOA',NULL,13307,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0035646|P:endosome to melanosome transport|IDA; GO:0032402|P:melanosome transport|IDA',NULL,NULL,NULL,NULL,NULL),(139031,'Experimental MF/BP Leaf Term GOA',NULL,13310,NULL,'GO:0008336|F:gamma-butyrobetaine dioxygenase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0045329|P:carnitine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139032,'Experimental MF/BP Leaf Term GOA',NULL,13311,NULL,'GO:0017049|F:GTP-Rho binding|IPI; GO:0005096|F:GTPase activator activity|IMP',NULL,NULL,NULL,NULL,NULL),(139033,'Experimental MF/BP Leaf Term GOA',NULL,13312,NULL,'GO:0001530|F:lipopolysaccharide binding|IDA',NULL,NULL,NULL,NULL,NULL),(139034,'Experimental MF/BP Leaf Term GOA',NULL,13313,NULL,'GO:0070700|F:BMP receptor binding|IDA; GO:0032348|P:negative regulation of aldosterone biosynthetic process|IDA; GO:2000065|P:negative regulation of cortisol biosynthetic process|IDA; GO:0043569|P:negative regulation of insulin-like growth factor receptor signaling pathway|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0003323|P:type B pancreatic cell development|IDA',NULL,NULL,NULL,NULL,NULL),(139035,'Experimental MF/BP Leaf Term GOA',NULL,13318,NULL,'GO:0009374|F:biotin binding|IDA; GO:0004080|F:biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|IDA; GO:0071110|P:histone biotinylation|IDA',NULL,NULL,NULL,NULL,NULL),(139036,'Experimental MF/BP Leaf Term GOA',NULL,13322,NULL,'GO:0043015|F:gamma-tubulin binding|IPI; GO:0008022|F:protein C-terminus binding|IDA; GO:0051298|P:centrosome duplication|IMP; GO:1990426|P:mitotic recombination-dependent replication fork processing|IMP; GO:0033600|P:negative regulation of mammary gland epithelial cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(139037,'Experimental MF/BP Leaf Term GOA',NULL,13331,NULL,'GO:2000825|P:positive regulation of androgen receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(139038,'Experimental MF/BP Leaf Term GOA',NULL,13336,NULL,'GO:0070700|F:BMP receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(139039,'Experimental MF/BP Leaf Term GOA',NULL,13339,NULL,'GO:0043276|P:anoikis|IDA',NULL,NULL,NULL,NULL,NULL),(139040,'Experimental MF/BP Leaf Term GOA',NULL,13340,NULL,'GO:2000632|P:negative regulation of pre-miRNA processing|IDA',NULL,NULL,NULL,NULL,NULL),(139041,'Experimental MF/BP Leaf Term GOA',NULL,13342,NULL,'GO:0002227|P:innate immune response in mucosa|IDA; GO:0034144|P:negative regulation of toll-like receptor 4 signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139042,'Experimental MF/BP Leaf Term GOA',NULL,13343,NULL,'GO:0071277|P:cellular response to calcium ion|IDA',NULL,NULL,NULL,NULL,NULL),(139043,'Experimental MF/BP Leaf Term GOA',NULL,13346,NULL,'GO:0070577|F:lysine-acetylated histone binding|IDA',NULL,NULL,NULL,NULL,NULL),(139044,'Experimental MF/BP Leaf Term GOA',NULL,13348,NULL,'GO:0005502|F:11-cis retinal binding|IDA; GO:0061899|F:11-cis-retinal 3,4-desaturase activity|IDA; GO:0061897|F:all-trans retinal 3,4-desaturase activity|IDA; GO:0005503|F:all-trans retinal binding|IDA; GO:0061898|F:all-trans retinoic acid 3,4-desaturase activity|IDA; GO:0061896|F:all-trans retinol 3,4-desaturase activity|IDA; GO:1904768|F:all-trans-retinol binding|IDA; GO:0001972|F:retinoic acid binding|IDA; GO:0042574|P:retinal metabolic process|IDA; GO:0042572|P:retinol metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139045,'Experimental MF/BP Leaf Term GOA',NULL,13357,NULL,'GO:0031424|P:keratinization|IMP; GO:0051796|P:negative regulation of timing of catagen|IMP; GO:0043568|P:positive regulation of insulin-like growth factor receptor signaling pathway|IMP; GO:0010838|P:positive regulation of keratinocyte proliferation|IMP; GO:0048023|P:positive regulation of melanin biosynthetic process|IMP; GO:1902910|P:positive regulation of melanosome transport|IMP; GO:0032773|P:positive regulation of monophenol monooxygenase activity|IMP; GO:0060901|P:regulation of hair cycle by canonical Wnt signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139046,'Experimental MF/BP Leaf Term GOA',NULL,13358,NULL,'GO:2000251|P:positive regulation of actin cytoskeleton reorganization|IMP',NULL,NULL,NULL,NULL,NULL),(139047,'Experimental MF/BP Leaf Term GOA',NULL,13359,NULL,'GO:0034452|F:dynactin binding|IDA; GO:0070840|F:dynein complex binding|IDA; GO:0045505|F:dynein intermediate chain binding|IDA; GO:1904781|P:positive regulation of protein localization to centrosome|IGI',NULL,NULL,NULL,NULL,NULL),(139048,'Experimental MF/BP Leaf Term GOA',NULL,13360,NULL,'GO:0030165|F:PDZ domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(139049,'Experimental MF/BP Leaf Term GOA',NULL,13367,NULL,'GO:0008139|F:nuclear localization sequence binding|IDA',NULL,NULL,NULL,NULL,NULL),(139050,'Experimental MF/BP Leaf Term GOA',NULL,13370,NULL,'GO:0043972|P:histone H3-K23 acetylation|IMP',NULL,NULL,NULL,NULL,NULL),(139051,'Experimental MF/BP Leaf Term GOA',NULL,13375,NULL,'GO:2000271|P:positive regulation of fibroblast apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(139052,'Experimental MF/BP Leaf Term GOA',NULL,13378,NULL,'GO:0071773|P:cellular response to BMP stimulus|IMP; GO:0001823|P:mesonephros development|IEP; GO:0070487|P:monocyte aggregation|IDA; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IDA; GO:1900106|P:positive regulation of hyaluranon cable assembly|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IDA; GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(139053,'Experimental MF/BP Leaf Term GOA',NULL,13380,NULL,'GO:0005524|F:ATP binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0071773|P:cellular response to BMP stimulus|IMP; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0060391|P:positive regulation of SMAD protein signal transduction|IDA; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(139054,'Experimental MF/BP Leaf Term GOA',NULL,13381,NULL,'GO:0072643|P:interferon-gamma secretion|IMP',NULL,NULL,NULL,NULL,NULL),(139055,'Experimental MF/BP Leaf Term GOA',NULL,13382,NULL,'GO:0005524|F:ATP binding|IDA; GO:0051117|F:ATPase binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0050321|F:tau-protein kinase activity|IDA; GO:0031532|P:actin cytoskeleton reorganization|IMP; GO:0000086|P:G2/M transition of mitotic cell cycle|IMP',NULL,NULL,NULL,NULL,NULL),(139056,'Experimental MF/BP Leaf Term GOA',NULL,13383,NULL,'GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(139057,'Experimental MF/BP Leaf Term GOA',NULL,13385,NULL,'GO:0048593|P:camera-type eye morphogenesis|IMP; GO:0021540|P:corpus callosum morphogenesis|IMP; GO:0036343|P:psychomotor behavior|IMP; GO:0021678|P:third ventricle development|IMP',NULL,NULL,NULL,NULL,NULL),(139058,'Experimental MF/BP Leaf Term GOA',NULL,13386,NULL,'GO:0003837|F:beta-ureidopropionase activity|EXP',NULL,NULL,NULL,NULL,NULL),(139059,'Experimental MF/BP Leaf Term GOA',NULL,13388,NULL,'GO:0004876|F:complement component C3a receptor activity|IDA; GO:0051482|P:positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway|IPI',NULL,NULL,NULL,NULL,NULL),(139060,'Experimental MF/BP Leaf Term GOA',NULL,13390,NULL,'GO:0061511|P:centriole elongation|IDA; GO:1905515|P:non-motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139061,'Experimental MF/BP Leaf Term GOA',NULL,13392,NULL,'GO:0004329|F:formate-tetrahydrofolate ligase activity|IDA; GO:0004477|F:methenyltetrahydrofolate cyclohydrolase activity|IDA; GO:0004486|F:methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity|IDA; GO:0009257|P:10-formyltetrahydrofolate biosynthetic process|IDA; GO:0035999|P:tetrahydrofolate interconversion|IDA',NULL,NULL,NULL,NULL,NULL),(139062,'Experimental MF/BP Leaf Term GOA',NULL,13401,NULL,'GO:0008331|F:high voltage-gated calcium channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139063,'Experimental MF/BP Leaf Term GOA',NULL,13403,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:1903142|P:positive regulation of establishment of endothelial barrier|IMP',NULL,NULL,NULL,NULL,NULL),(139064,'Experimental MF/BP Leaf Term GOA',NULL,13406,NULL,'GO:0070016|F:armadillo repeat domain binding|IPI; GO:0008013|F:beta-catenin binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(139065,'Experimental MF/BP Leaf Term GOA',NULL,13407,NULL,'GO:0051011|F:microtubule minus-end binding|IDA; GO:0045218|P:zonula adherens maintenance|IMP',NULL,NULL,NULL,NULL,NULL),(139066,'Experimental MF/BP Leaf Term GOA',NULL,13408,NULL,'GO:0010856|F:adenylate cyclase activator activity|IDA; GO:0008179|F:adenylate cyclase binding|IPI; GO:0097718|F:disordered domain specific binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:0031997|F:N-terminal myristoylation domain binding|IPI; GO:0031432|F:titin binding|IPI; GO:0005513|P:detection of calcium ion|IMP; GO:0051343|P:positive regulation of cyclic-nucleotide phosphodiesterase activity|IDA; GO:0060316|P:positive regulation of ryanodine-sensitive calcium-release channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139067,'Experimental MF/BP Leaf Term GOA',NULL,13410,NULL,'GO:0005521|F:lamin binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0071456|P:cellular response to hypoxia|IGI; GO:0035694|P:mitochondrial protein catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(139068,'Experimental MF/BP Leaf Term GOA',NULL,13411,NULL,'GO:0007080|P:mitotic metaphase plate congression|IMP',NULL,NULL,NULL,NULL,NULL),(139069,'Experimental MF/BP Leaf Term GOA',NULL,13416,NULL,'GO:0070577|F:lysine-acetylated histone binding|IDA',NULL,NULL,NULL,NULL,NULL),(139070,'Experimental MF/BP Leaf Term GOA',NULL,13417,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0050321|F:tau-protein kinase activity|IDA; GO:0007095|P:mitotic G2 DNA damage checkpoint|IDA',NULL,NULL,NULL,NULL,NULL),(139071,'Experimental MF/BP Leaf Term GOA',NULL,13421,NULL,'GO:2000778|P:positive regulation of interleukin-6 secretion|IDA; GO:0070105|P:positive regulation of interleukin-6-mediated signaling pathway|IDA; GO:1904469|P:positive regulation of tumor necrosis factor secretion|IDA',NULL,NULL,NULL,NULL,NULL),(139072,'Experimental MF/BP Leaf Term GOA',NULL,13425,NULL,'GO:1900165|P:negative regulation of interleukin-6 secretion|IMP; GO:0090024|P:negative regulation of neutrophil chemotaxis|IMP',NULL,NULL,NULL,NULL,NULL),(139073,'Experimental MF/BP Leaf Term GOA',NULL,13432,NULL,'GO:2000860|P:positive regulation of aldosterone secretion|IDA',NULL,NULL,NULL,NULL,NULL),(139074,'Experimental MF/BP Leaf Term GOA',NULL,13433,NULL,'GO:0005524|F:ATP binding|IDA; GO:0004329|F:formate-tetrahydrofolate ligase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0009257|P:10-formyltetrahydrofolate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139075,'Experimental MF/BP Leaf Term GOA',NULL,13449,NULL,'GO:1904646|P:cellular response to amyloid-beta|IGI; GO:0086048|P:membrane depolarization during bundle of His cell action potential|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(139076,'Experimental MF/BP Leaf Term GOA',NULL,13452,NULL,'GO:0042271|P:susceptibility to natural killer cell mediated cytotoxicity|IDA',NULL,NULL,NULL,NULL,NULL),(139077,'Experimental MF/BP Leaf Term GOA',NULL,13458,NULL,'GO:0010856|F:adenylate cyclase activator activity|IDA; GO:0008179|F:adenylate cyclase binding|IPI; GO:0019855|F:calcium channel inhibitor activity|IDA; GO:0097718|F:disordered domain specific binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:0031997|F:N-terminal myristoylation domain binding|IPI; GO:0031432|F:titin binding|IPI; GO:0005513|P:detection of calcium ion|IMP; GO:0060315|P:negative regulation of ryanodine-sensitive calcium-release channel activity|IDA; GO:0051343|P:positive regulation of cyclic-nucleotide phosphodiesterase activity|IDA; GO:0060316|P:positive regulation of ryanodine-sensitive calcium-release channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139078,'Experimental MF/BP Leaf Term GOA',NULL,13460,NULL,'GO:0051011|F:microtubule minus-end binding|IDA; GO:0030507|F:spectrin binding|IDA',NULL,NULL,NULL,NULL,NULL),(139079,'Experimental MF/BP Leaf Term GOA',NULL,13461,NULL,'GO:0050700|F:CARD domain binding|IPI; GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IMP',NULL,NULL,NULL,NULL,NULL),(139080,'Experimental MF/BP Leaf Term GOA',NULL,13462,NULL,'GO:0031404|F:chloride ion binding|IDA; GO:0016941|F:natriuretic peptide receptor activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139081,'Experimental MF/BP Leaf Term GOA',NULL,13463,NULL,'GO:0044020|F:histone methyltransferase activity (H4-R3 specific)|IDA; GO:0008327|F:methyl-CpG binding|IDA; GO:0048273|F:mitogen-activated protein kinase p38 binding|IPI; GO:0035242|F:protein-arginine omega-N asymmetric methyltransferase activity|IDA; GO:0035241|F:protein-arginine omega-N monomethyltransferase activity|IDA; GO:1904047|F:S-adenosyl-L-methionine binding|IDA; GO:0043985|P:histone H4-R3 methylation|IDA; GO:0045653|P:negative regulation of megakaryocyte differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(139082,'Experimental MF/BP Leaf Term GOA',NULL,13465,NULL,'GO:1904970|P:brush border assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139083,'Experimental MF/BP Leaf Term GOA',NULL,13466,NULL,'GO:0043422|F:protein kinase B binding|IPI',NULL,NULL,NULL,NULL,NULL),(139084,'Experimental MF/BP Leaf Term GOA',NULL,13470,NULL,'GO:0005544|F:calcium-dependent phospholipid binding|IDA; GO:0051059|F:NF-kappaB binding|IPI; GO:2000483|P:negative regulation of interleukin-8 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(139085,'Experimental MF/BP Leaf Term GOA',NULL,13471,NULL,'GO:0004064|F:arylesterase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139086,'Experimental MF/BP Leaf Term GOA',NULL,13472,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0051497|P:negative regulation of stress fiber assembly|IMP; GO:0051491|P:positive regulation of filopodium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139087,'Experimental MF/BP Leaf Term GOA',NULL,13475,NULL,'GO:0044598|P:doxorubicin metabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(139088,'Experimental MF/BP Leaf Term GOA',NULL,13476,NULL,'GO:1902476|P:chloride transmembrane transport|IDA',NULL,NULL,NULL,NULL,NULL),(139089,'Experimental MF/BP Leaf Term GOA',NULL,13477,NULL,'GO:0001968|F:fibronectin binding|IPI; GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139090,'Experimental MF/BP Leaf Term GOA',NULL,13478,NULL,'GO:0015254|F:glycerol channel activity|EXP; GO:0015265|F:urea channel activity|EXP; GO:0015250|F:water channel activity|EXP',NULL,NULL,NULL,NULL,NULL),(139091,'Experimental MF/BP Leaf Term GOA',NULL,13481,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(139092,'Experimental MF/BP Leaf Term GOA',NULL,13482,NULL,'GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(139093,'Experimental MF/BP Leaf Term GOA',NULL,13487,NULL,'GO:0050681|F:androgen receptor binding|IDA; GO:0030331|F:estrogen receptor binding|IDA; GO:0046965|F:retinoid X receptor binding|IDA; GO:0046966|F:thyroid hormone receptor binding|IDA; GO:0071391|P:cellular response to estrogen stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(139094,'Experimental MF/BP Leaf Term GOA',NULL,13490,NULL,'GO:0031624|F:ubiquitin conjugating enzyme binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(139095,'Experimental MF/BP Leaf Term GOA',NULL,13493,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0035522|P:monoubiquitinated histone H2A deubiquitination|IDA; GO:0071108|P:protein K48-linked deubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(139096,'Experimental MF/BP Leaf Term GOA',NULL,13494,NULL,'GO:0042826|F:histone deacetylase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139097,'Experimental MF/BP Leaf Term GOA',NULL,13499,NULL,'GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(139098,'Experimental MF/BP Leaf Term GOA',NULL,13500,NULL,'GO:0005086|F:ARF guanyl-nucleotide exchange factor activity|IDA; GO:0034237|F:protein kinase A regulatory subunit binding|IDA; GO:0010256|P:endomembrane system organization|IMP',NULL,NULL,NULL,NULL,NULL),(139099,'Experimental MF/BP Leaf Term GOA',NULL,13501,NULL,'GO:0004947|F:bradykinin receptor activity|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0031702|F:type 1 angiotensin receptor binding|IPI; GO:0050482|P:arachidonic acid secretion|IDA',NULL,NULL,NULL,NULL,NULL),(139100,'Experimental MF/BP Leaf Term GOA',NULL,13502,NULL,'GO:0051787|F:misfolded protein binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139101,'Experimental MF/BP Leaf Term GOA',NULL,13503,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0098770|F:FBXO family protein binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:1902524|P:positive regulation of protein K48-linked ubiquitination|IDA; GO:1902527|P:positive regulation of protein monoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139102,'Experimental MF/BP Leaf Term GOA',NULL,13505,NULL,'GO:0004074|F:biliverdin reductase activity|IDA; GO:0042602|F:riboflavin reductase (NADPH) activity|IDA',NULL,NULL,NULL,NULL,NULL),(139103,'Experimental MF/BP Leaf Term GOA',NULL,13507,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IEP; GO:1900229|P:negative regulation of single-species biofilm formation in or on host organism|IMP',NULL,NULL,NULL,NULL,NULL),(139104,'Experimental MF/BP Leaf Term GOA',NULL,13508,NULL,'GO:0017049|F:GTP-Rho binding|IPI',NULL,NULL,NULL,NULL,NULL),(139105,'Experimental MF/BP Leaf Term GOA',NULL,13510,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071681|P:cellular response to indole-3-methanol|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IMP; GO:0033147|P:negative regulation of intracellular estrogen receptor signaling pathway|IMP; GO:2000617|P:positive regulation of histone H3-K9 acetylation|IDA; GO:2000620|P:positive regulation of histone H4-K16 acetylation|IDA; GO:0070512|P:positive regulation of histone H4-K20 methylation|IDA; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IMP; GO:0051865|P:protein autoubiquitination|IDA; GO:0085020|P:protein K6-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139106,'Experimental MF/BP Leaf Term GOA',NULL,13513,NULL,'GO:0051059|F:NF-kappaB binding|IDA; GO:2000210|P:positive regulation of anoikis|IMP',NULL,NULL,NULL,NULL,NULL),(139107,'Experimental MF/BP Leaf Term GOA',NULL,13515,NULL,'GO:0050798|P:activated T cell proliferation|IMP; GO:0072643|P:interferon-gamma secretion|IMP; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139108,'Experimental MF/BP Leaf Term GOA',NULL,13516,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0097202|P:activation of cysteine-type endopeptidase activity|IDA; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0010248|P:establishment or maintenance of transmembrane electrochemical gradient|IDA; GO:0043497|P:regulation of protein heterodimerization activity|IDA; GO:0001836|P:release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(139109,'Experimental MF/BP Leaf Term GOA',NULL,13521,NULL,'GO:0051131|P:chaperone-mediated protein complex assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139110,'Experimental MF/BP Leaf Term GOA',NULL,13522,NULL,'GO:0005113|F:patched binding|IPI; GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI; GO:0005119|F:smoothened binding|IPI; GO:1905515|P:non-motile cilium assembly|IMP; GO:0045494|P:photoreceptor cell maintenance|IMP',NULL,NULL,NULL,NULL,NULL),(139111,'Experimental MF/BP Leaf Term GOA',NULL,13523,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0048487|F:beta-tubulin binding|IDA; GO:0034452|F:dynactin binding|IDA; GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI; GO:0007098|P:centrosome cycle|IMP; GO:0034454|P:microtubule anchoring at centrosome|IMP',NULL,NULL,NULL,NULL,NULL),(139112,'Experimental MF/BP Leaf Term GOA',NULL,13524,NULL,'GO:0005055|F:laminin receptor activity|IMP; GO:0008022|F:protein C-terminus binding|IDA',NULL,NULL,NULL,NULL,NULL),(139113,'Experimental MF/BP Leaf Term GOA',NULL,13527,NULL,'GO:0000060|P:protein import into nucleus, translocation|IGI',NULL,NULL,NULL,NULL,NULL),(139114,'Experimental MF/BP Leaf Term GOA',NULL,13530,NULL,'GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(139115,'Experimental MF/BP Leaf Term GOA',NULL,13531,NULL,'GO:0030321|P:transepithelial chloride transport|IDA',NULL,NULL,NULL,NULL,NULL),(139116,'Experimental MF/BP Leaf Term GOA',NULL,13532,NULL,'GO:0070330|F:aromatase activity|IDA; GO:0020037|F:heme binding|IDA; GO:0006710|P:androgen catabolic process|IDA; GO:2000866|P:positive regulation of estradiol secretion|IDA',NULL,NULL,NULL,NULL,NULL),(139117,'Experimental MF/BP Leaf Term GOA',NULL,13533,NULL,'GO:0044571|P:[2Fe-2S] cluster assembly|IDA',NULL,NULL,NULL,NULL,NULL),(139118,'Experimental MF/BP Leaf Term GOA',NULL,13534,NULL,'GO:0070700|F:BMP receptor binding|IDA; GO:0039706|F:co-receptor binding|IPI; GO:0002043|P:blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IDA; GO:0003130|P:BMP signaling pathway involved in heart induction|IMP; GO:0071893|P:BMP signaling pathway involved in nephric duct formation|IDA; GO:0001658|P:branching involved in ureteric bud morphogenesis|IDA; GO:0060503|P:bud dilation involved in lung branching|IDA; GO:0071773|P:cellular response to BMP stimulus|IMP; GO:0007182|P:common-partner SMAD protein phosphorylation|IDA; GO:0048392|P:intermediate mesodermal cell differentiation|IDA; GO:0048286|P:lung alveolus development|IDA; GO:0001823|P:mesonephros development|IEP; GO:0030224|P:monocyte differentiation|IDA; GO:0072097|P:negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|IDA; GO:0033088|P:negative regulation of immature T cell proliferation in thymus|IMP; GO:0072200|P:negative regulation of mesenchymal cell proliferation involved in ureter development|IDA; GO:2000007|P:negative regulation of metanephric comma-shaped body morphogenesis|IDA; GO:2000005|P:negative regulation of metanephric S-shaped body morphogenesis|IDA; GO:1902894|P:negative regulation of pri-miRNA transcription by RNA polymerase II|IDA; GO:0070244|P:negative regulation of thymocyte apoptotic process|IMP; GO:0001649|P:osteoblast differentiation|IDA; GO:0055020|P:positive regulation of cardiac muscle fiber development|IMP; GO:0032967|P:positive regulation of collagen biosynthetic process|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0060391|P:positive regulation of SMAD protein signal transduction|IDA; GO:0061155|P:pulmonary artery endothelial tube morphogenesis|IDA; GO:0072001|P:renal system development|IEP; GO:0003139|P:secondary heart field specification|IMP; GO:0060395|P:SMAD protein signal transduction|IDA; GO:0072101|P:specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|IDA; GO:0021537|P:telencephalon development|IDA; GO:0060438|P:trachea development|IDA; GO:0003323|P:type B pancreatic cell development|IDA; GO:0001657|P:ureteric bud development|IDA',NULL,NULL,NULL,NULL,NULL),(139119,'Experimental MF/BP Leaf Term GOA',NULL,13535,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0071535|F:RING-like zinc finger domain binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0036353|P:histone H2A-K119 monoubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(139120,'Experimental MF/BP Leaf Term GOA',NULL,13537,NULL,'GO:2000601|P:positive regulation of Arp2/3 complex-mediated actin nucleation|IDA; GO:0010592|P:positive regulation of lamellipodium assembly|IMP; GO:0070207|P:protein homotrimerization|IDA; GO:0016601|P:Rac protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(139121,'Experimental MF/BP Leaf Term GOA',NULL,13541,NULL,'GO:0004565|F:beta-galactosidase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(139122,'Experimental MF/BP Leaf Term GOA',NULL,13542,NULL,'GO:0030145|F:manganese ion binding|IMP',NULL,NULL,NULL,NULL,NULL),(139123,'Experimental MF/BP Leaf Term GOA',NULL,13543,NULL,'GO:0101020|F:estrogen 16-alpha-hydroxylase activity|IDA; GO:0002933|P:lipid hydroxylation|IDA',NULL,NULL,NULL,NULL,NULL),(139124,'Experimental MF/BP Leaf Term GOA',NULL,13544,NULL,'GO:0097320|P:plasma membrane tubulation|IDA; GO:0071800|P:podosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139125,'Experimental MF/BP Leaf Term GOA',NULL,13547,NULL,'GO:0043015|F:gamma-tubulin binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0097345|P:mitochondrial outer membrane permeabilization|IDA',NULL,NULL,NULL,NULL,NULL),(139126,'Experimental MF/BP Leaf Term GOA',NULL,13549,NULL,'GO:0017162|F:aryl hydrocarbon receptor binding|IPI; GO:0070888|F:E-box binding|IDA; GO:0051879|F:Hsp90 protein binding|IDA; GO:0032922|P:circadian regulation of gene expression|IDA',NULL,NULL,NULL,NULL,NULL),(139127,'Experimental MF/BP Leaf Term GOA',NULL,13550,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IMP; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0000086|P:G2/M transition of mitotic cell cycle|IDA; GO:0007094|P:mitotic spindle assembly checkpoint|IMP; GO:0031536|P:positive regulation of exit from mitosis|IMP; GO:0007605|P:sensory perception of sound|IEP',NULL,NULL,NULL,NULL,NULL),(139128,'Experimental MF/BP Leaf Term GOA',NULL,13551,NULL,'GO:0005070|F:SH3/SH2 adaptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(139129,'Experimental MF/BP Leaf Term GOA',NULL,13552,NULL,'GO:0000463|P:maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|IMP',NULL,NULL,NULL,NULL,NULL),(139130,'Experimental MF/BP Leaf Term GOA',NULL,13564,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139131,'Experimental MF/BP Leaf Term GOA',NULL,13567,NULL,'GO:0001164|F:RNA polymerase I CORE element sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(139132,'Experimental MF/BP Leaf Term GOA',NULL,13568,NULL,'GO:0090307|P:mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139133,'Experimental MF/BP Leaf Term GOA',NULL,13569,NULL,'GO:0051117|F:ATPase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139134,'Experimental MF/BP Leaf Term GOA',NULL,13570,NULL,'GO:0010698|F:acetyltransferase activator activity|IDA; GO:0048487|F:beta-tubulin binding|IDA; GO:0035035|F:histone acetyltransferase binding|IPI; GO:0071391|P:cellular response to estrogen stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(139135,'Experimental MF/BP Leaf Term GOA',NULL,13574,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0007099|P:centriole replication|IMP; GO:0010457|P:centriole-centriole cohesion|IMP; GO:1902857|P:positive regulation of non-motile cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139136,'Experimental MF/BP Leaf Term GOA',NULL,13579,NULL,'GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IMP; GO:0001836|P:release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(139137,'Experimental MF/BP Leaf Term GOA',NULL,13580,NULL,'GO:0004074|F:biliverdin reductase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139138,'Experimental MF/BP Leaf Term GOA',NULL,13582,NULL,'GO:0005524|F:ATP binding|IMP',NULL,NULL,NULL,NULL,NULL),(139139,'Experimental MF/BP Leaf Term GOA',NULL,13585,NULL,'GO:0008494|F:translation activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(139140,'Experimental MF/BP Leaf Term GOA',NULL,13586,NULL,'GO:0031433|F:telethonin binding|IPI; GO:0060389|P:pathway-restricted SMAD protein phosphorylation|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0060298|P:positive regulation of sarcomere organization|IDA',NULL,NULL,NULL,NULL,NULL),(139141,'Experimental MF/BP Leaf Term GOA',NULL,13587,NULL,'GO:0000774|F:adenyl-nucleotide exchange factor activity|IDA; GO:0051087|F:chaperone binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:1904667|P:negative regulation of ubiquitin protein ligase activity|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(139142,'Experimental MF/BP Leaf Term GOA',NULL,13588,NULL,'GO:0008656|F:cysteine-type endopeptidase activator activity involved in apoptotic process|IDA; GO:0097202|P:activation of cysteine-type endopeptidase activity|IDA; GO:0071456|P:cellular response to hypoxia|IEP; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0071316|P:cellular response to nicotine|IDA; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(139143,'Experimental MF/BP Leaf Term GOA',NULL,13593,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(139144,'Experimental MF/BP Leaf Term GOA',NULL,13594,NULL,'GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(139145,'Experimental MF/BP Leaf Term GOA',NULL,13595,NULL,'GO:0071456|P:cellular response to hypoxia|IEP; GO:0097194|P:execution phase of apoptosis|IDA; GO:1900740|P:positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway|IDA; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IDA; GO:0001836|P:release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(139146,'Experimental MF/BP Leaf Term GOA',NULL,13600,NULL,'GO:0051434|F:BH3 domain binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:2000811|P:negative regulation of anoikis|IMP; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IGI; GO:0030890|P:positive regulation of B cell proliferation|IMP; GO:0043497|P:regulation of protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139147,'Experimental MF/BP Leaf Term GOA',NULL,13601,NULL,'GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IDA; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP; GO:0045415|P:negative regulation of interleukin-8 biosynthetic process|IMP; GO:0000060|P:protein import into nucleus, translocation|IMP',NULL,NULL,NULL,NULL,NULL),(139148,'Experimental MF/BP Leaf Term GOA',NULL,13611,NULL,'GO:0047150|F:betaine-homocysteine S-methyltransferase activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(139149,'Experimental MF/BP Leaf Term GOA',NULL,13614,NULL,'GO:0030262|P:apoptotic nuclear changes|IDA',NULL,NULL,NULL,NULL,NULL),(139150,'Experimental MF/BP Leaf Term GOA',NULL,13617,NULL,'GO:0005109|F:frizzled binding|IPI',NULL,NULL,NULL,NULL,NULL),(139151,'Experimental MF/BP Leaf Term GOA',NULL,13618,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0085020|P:protein K6-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139152,'Experimental MF/BP Leaf Term GOA',NULL,13620,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0001094|F:TFIID-class transcription factor complex binding|IPI; GO:0000492|P:box C/D snoRNP assembly|IMP; GO:0048254|P:snoRNA localization|IMP',NULL,NULL,NULL,NULL,NULL),(139153,'Experimental MF/BP Leaf Term GOA',NULL,13621,NULL,'GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI; GO:0051131|P:chaperone-mediated protein complex assembly|IMP; GO:1905515|P:non-motile cilium assembly|IMP; GO:0045494|P:photoreceptor cell maintenance|IMP',NULL,NULL,NULL,NULL,NULL),(139154,'Experimental MF/BP Leaf Term GOA',NULL,13622,NULL,'GO:0003834|F:beta-carotene 15,15\'-monooxygenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139155,'Experimental MF/BP Leaf Term GOA',NULL,13624,NULL,'GO:0005484|F:SNAP receptor activity|IDA; GO:2000156|P:regulation of retrograde vesicle-mediated transport, Golgi to ER|IMP',NULL,NULL,NULL,NULL,NULL),(139156,'Experimental MF/BP Leaf Term GOA',NULL,13625,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0035735|P:intraciliary transport involved in cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139157,'Experimental MF/BP Leaf Term GOA',NULL,13626,NULL,'GO:0000183|P:chromatin silencing at rDNA|IMP; GO:0098532|P:histone H3-K27 trimethylation|IDA; GO:0080182|P:histone H3-K4 trimethylation|IMP; GO:0036124|P:histone H3-K9 trimethylation|IDA; GO:0034773|P:histone H4-K20 trimethylation|IDA',NULL,NULL,NULL,NULL,NULL),(139158,'Experimental MF/BP Leaf Term GOA',NULL,13628,NULL,'GO:0047442|F:17-alpha-hydroxyprogesterone aldolase activity|IMP; GO:0020037|F:heme binding|IDA; GO:0004508|F:steroid 17-alpha-monooxygenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139159,'Experimental MF/BP Leaf Term GOA',NULL,13629,NULL,'GO:0060698|F:endoribonuclease inhibitor activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0060702|P:negative regulation of endoribonuclease activity|IDA; GO:1903298|P:negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139160,'Experimental MF/BP Leaf Term GOA',NULL,13630,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139161,'Experimental MF/BP Leaf Term GOA',NULL,13635,NULL,'GO:0035646|P:endosome to melanosome transport|IDA; GO:0032402|P:melanosome transport|IDA; GO:0030168|P:platelet activation|IMP',NULL,NULL,NULL,NULL,NULL),(139162,'Experimental MF/BP Leaf Term GOA',NULL,13637,NULL,'GO:1905773|F:8-hydroxy-2\'-deoxyguanosine DNA binding|IDA; GO:0036310|F:annealing helicase activity|IDA; GO:0005524|F:ATP binding|IDA; GO:0000405|F:bubble DNA binding|IDA; GO:0061749|F:forked DNA-dependent helicase activity|IDA; GO:0002039|F:p53 binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0061821|F:telomeric D-loop binding|IDA; GO:0000403|F:Y-form DNA binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0072757|P:cellular response to camptothecin|IDA; GO:0072711|P:cellular response to hydroxyurea|IDA; GO:0044806|P:G-quadruplex DNA unwinding|IDA; GO:0007095|P:mitotic G2 DNA damage checkpoint|IDA; GO:0061820|P:telomeric D-loop disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(139163,'Experimental MF/BP Leaf Term GOA',NULL,13640,NULL,'GO:0000774|F:adenyl-nucleotide exchange factor activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051085|P:chaperone cofactor-dependent protein refolding|IDA',NULL,NULL,NULL,NULL,NULL),(139164,'Experimental MF/BP Leaf Term GOA',NULL,13641,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071356|P:cellular response to tumor necrosis factor|IDA',NULL,NULL,NULL,NULL,NULL),(139165,'Experimental MF/BP Leaf Term GOA',NULL,13642,NULL,'GO:0036042|F:long-chain fatty acyl-CoA binding|IDA; GO:0016290|F:palmitoyl-CoA hydrolase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0015937|P:coenzyme A biosynthetic process|IDA; GO:0036116|P:long-chain fatty-acyl-CoA catabolic process|IDA; GO:0051792|P:medium-chain fatty acid biosynthetic process|IDA; GO:0036114|P:medium-chain fatty-acyl-CoA catabolic process|IDA; GO:1900535|P:palmitic acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139166,'Experimental MF/BP Leaf Term GOA',NULL,13643,NULL,'GO:0051434|F:BH3 domain binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0008635|P:activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c|IDA; GO:1990117|P:B cell receptor apoptotic signaling pathway|IDA; GO:0010248|P:establishment or maintenance of transmembrane electrochemical gradient|IDA; GO:0043653|P:mitochondrial fragmentation involved in apoptotic process|IDA; GO:1902512|P:positive regulation of apoptotic DNA fragmentation|IMP; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IDA; GO:0043497|P:regulation of protein heterodimerization activity|IPI; GO:0001836|P:release of cytochrome c from mitochondria|IDA; GO:0032976|P:release of matrix enzymes from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(139167,'Experimental MF/BP Leaf Term GOA',NULL,13646,NULL,'GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(139168,'Experimental MF/BP Leaf Term GOA',NULL,13649,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0045022|P:early endosome to late endosome transport|IMP; GO:0000423|P:mitophagy|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP',NULL,NULL,NULL,NULL,NULL),(139169,'Experimental MF/BP Leaf Term GOA',NULL,13651,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0048156|F:tau protein binding|IPI; GO:1902430|P:negative regulation of amyloid-beta formation|IMP; GO:1902960|P:negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process|IMP; GO:0033292|P:T-tubule organization|IDA',NULL,NULL,NULL,NULL,NULL),(139170,'Experimental MF/BP Leaf Term GOA',NULL,13652,NULL,'GO:0030165|F:PDZ domain binding|IDA; GO:0097110|F:scaffold protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(139171,'Experimental MF/BP Leaf Term GOA',NULL,13653,NULL,'GO:0017049|F:GTP-Rho binding|IDA; GO:0035024|P:negative regulation of Rho protein signal transduction|IMP; GO:0043149|P:stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139172,'Experimental MF/BP Leaf Term GOA',NULL,13655,NULL,'GO:0001540|F:amyloid-beta binding|IPI',NULL,NULL,NULL,NULL,NULL),(139173,'Experimental MF/BP Leaf Term GOA',NULL,13656,NULL,'GO:0042985|P:negative regulation of amyloid precursor protein biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(139174,'Experimental MF/BP Leaf Term GOA',NULL,13657,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(139175,'Experimental MF/BP Leaf Term GOA',NULL,13660,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP',NULL,NULL,NULL,NULL,NULL),(139176,'Experimental MF/BP Leaf Term GOA',NULL,13661,NULL,'GO:0004129|F:cytochrome-c oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139177,'Experimental MF/BP Leaf Term GOA',NULL,13664,NULL,'GO:0035729|P:cellular response to hepatocyte growth factor stimulus|IMP; GO:0048012|P:hepatocyte growth factor receptor signaling pathway|IMP; GO:0007229|P:integrin-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139178,'Experimental MF/BP Leaf Term GOA',NULL,13668,NULL,'GO:0089720|F:caspase binding|IDA; GO:1903895|P:negative regulation of IRE1-mediated unfolded protein response|IMP; GO:0051865|P:protein autoubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139179,'Experimental MF/BP Leaf Term GOA',NULL,13669,NULL,'GO:0061627|F:S-methylmethionine-homocysteine S-methyltransferase activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(139180,'Experimental MF/BP Leaf Term GOA',NULL,13670,NULL,'GO:0051424|F:corticotropin-releasing hormone binding|IDA; GO:0048149|P:behavioral response to ethanol|IMP; GO:0071392|P:cellular response to estradiol stimulus|IDA; GO:0071391|P:cellular response to estrogen stimulus|IDA; GO:0035865|P:cellular response to potassium ion|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0007565|P:female pregnancy|IDA; GO:0051460|P:negative regulation of corticotropin secretion|IDA; GO:1900011|P:negative regulation of corticotropin-releasing hormone receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(139181,'Experimental MF/BP Leaf Term GOA',NULL,13674,NULL,'GO:0031694|F:alpha-2A adrenergic receptor binding|IPI; GO:0031695|F:alpha-2B adrenergic receptor binding|IPI; GO:0031696|F:alpha-2C adrenergic receptor binding|IPI; GO:0071874|P:cellular response to norepinephrine stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(139182,'Experimental MF/BP Leaf Term GOA',NULL,13675,NULL,'GO:0001540|F:amyloid-beta binding|IPI',NULL,NULL,NULL,NULL,NULL),(139183,'Experimental MF/BP Leaf Term GOA',NULL,13676,NULL,'GO:0033344|P:cholesterol efflux|IDA; GO:0034445|P:negative regulation of plasma lipoprotein oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(139184,'Experimental MF/BP Leaf Term GOA',NULL,13677,NULL,'GO:0010890|P:positive regulation of sequestering of triglyceride|IMP',NULL,NULL,NULL,NULL,NULL),(139185,'Experimental MF/BP Leaf Term GOA',NULL,13679,NULL,'GO:0015250|F:water channel activity|EXP; GO:0071320|P:cellular response to cAMP|IEP',NULL,NULL,NULL,NULL,NULL),(139186,'Experimental MF/BP Leaf Term GOA',NULL,13683,NULL,'GO:0035379|F:carbon dioxide transmembrane transporter activity|IDA; GO:0005223|F:intracellular cGMP-activated cation channel activity|IDA; GO:0030184|F:nitric oxide transmembrane transporter activity|IDA; GO:0015250|F:water channel activity|IDA; GO:0035378|P:carbon dioxide transmembrane transport|IDA; GO:0071320|P:cellular response to cAMP|IDA; GO:0071280|P:cellular response to copper ion|IDA; GO:0071549|P:cellular response to dexamethasone stimulus|IDA; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0071456|P:cellular response to hypoxia|IDA; GO:0071260|P:cellular response to mechanical stimulus|IDA; GO:0071288|P:cellular response to mercury ion|IDA; GO:0071732|P:cellular response to nitric oxide|IDA; GO:0071300|P:cellular response to retinoic acid|IDA; GO:0033326|P:cerebrospinal fluid secretion|IEP; GO:0030950|P:establishment or maintenance of actin cytoskeleton polarity|IMP; GO:0015793|P:glycerol transport|IDA; GO:0021670|P:lateral ventricle development|IEP; GO:0085018|P:maintenance of symbiont-containing vacuole by host|IMP; GO:0030185|P:nitric oxide transport|IDA; GO:0030157|P:pancreatic juice secretion|IEP; GO:0046878|P:positive regulation of saliva secretion|IMP; GO:0035377|P:transepithelial water transport|IDA',NULL,NULL,NULL,NULL,NULL),(139187,'Experimental MF/BP Leaf Term GOA',NULL,13684,NULL,'GO:0034314|P:Arp2/3 complex-mediated actin nucleation|IDA',NULL,NULL,NULL,NULL,NULL),(139188,'Experimental MF/BP Leaf Term GOA',NULL,13688,NULL,'GO:0005525|F:GTP binding|IDA; GO:0031584|P:activation of phospholipase D activity|IDA',NULL,NULL,NULL,NULL,NULL),(139189,'Experimental MF/BP Leaf Term GOA',NULL,13689,NULL,'GO:0050692|F:DBD domain binding|IDA; GO:0002039|F:p53 binding|IPI; GO:0040010|P:positive regulation of growth rate|IDA',NULL,NULL,NULL,NULL,NULL),(139190,'Experimental MF/BP Leaf Term GOA',NULL,13694,NULL,'GO:0010997|F:anaphase-promoting complex binding|IPI; GO:0033314|P:mitotic DNA replication checkpoint|IMP; GO:0007095|P:mitotic G2 DNA damage checkpoint|IDA',NULL,NULL,NULL,NULL,NULL),(139191,'Experimental MF/BP Leaf Term GOA',NULL,13700,NULL,'GO:0050910|P:detection of mechanical stimulus involved in sensory perception of sound|IMP; GO:0035987|P:endodermal cell differentiation|IEP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(139192,'Experimental MF/BP Leaf Term GOA',NULL,13709,NULL,'GO:0048213|P:Golgi vesicle prefusion complex stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(139193,'Experimental MF/BP Leaf Term GOA',NULL,13712,NULL,'GO:0032405|F:MutLalpha complex binding|IDA; GO:0032407|F:MutSalpha complex binding|IDA; GO:0071480|P:cellular response to gamma radiation|IDA; GO:0097694|P:establishment of RNA localization to telomere|IMP; GO:1904884|P:positive regulation of telomerase catalytic core complex assembly|IMP; GO:0090399|P:replicative senescence|IMP',NULL,NULL,NULL,NULL,NULL),(139194,'Experimental MF/BP Leaf Term GOA',NULL,13715,NULL,'GO:0033622|P:integrin activation|IDA; GO:0051894|P:positive regulation of focal adhesion assembly|IDA',NULL,NULL,NULL,NULL,NULL),(139195,'Experimental MF/BP Leaf Term GOA',NULL,13718,NULL,'GO:0031581|P:hemidesmosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(139196,'Experimental MF/BP Leaf Term GOA',NULL,13720,NULL,'GO:0007399|P:nervous system development|IMP',NULL,NULL,NULL,NULL,NULL),(139197,'Experimental MF/BP Leaf Term GOA',NULL,13723,NULL,'GO:0034046|F:poly(G) binding|IDA; GO:0008266|F:poly(U) RNA binding|IDA; GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(139198,'Experimental MF/BP Leaf Term GOA',NULL,13724,NULL,'GO:0071773|P:cellular response to BMP stimulus|IDA; GO:0071347|P:cellular response to interleukin-1|IMP; GO:0071356|P:cellular response to tumor necrosis factor|IMP',NULL,NULL,NULL,NULL,NULL),(139199,'Experimental MF/BP Leaf Term GOA',NULL,13725,NULL,'GO:1904888|P:cranial skeletal system development|IMP',NULL,NULL,NULL,NULL,NULL),(139200,'Experimental MF/BP Leaf Term GOA',NULL,13727,NULL,'GO:0120153|F:calcium-dependent carbohydrate binding|IDA; GO:0042806|F:fucose binding|IDA; GO:0005537|F:mannose binding|IDA; GO:0001867|P:complement activation, lectin pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139201,'Experimental MF/BP Leaf Term GOA',NULL,13728,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0033962|P:cytoplasmic mRNA processing body assembly|IMP; GO:0034063|P:stress granule assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139202,'Experimental MF/BP Leaf Term GOA',NULL,13729,NULL,'GO:0004300|F:enoyl-CoA hydratase activity|IDA; GO:0004490|F:methylglutaconyl-CoA hydratase activity|EXP',NULL,NULL,NULL,NULL,NULL),(139203,'Experimental MF/BP Leaf Term GOA',NULL,13730,NULL,'GO:0051117|F:ATPase binding|IPI; GO:1990380|F:Lys48-specific deubiquitinase activity|IDA; GO:0061578|F:Lys63-specific deubiquitinase activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071108|P:protein K48-linked deubiquitination|IDA; GO:1904379|P:protein localization to cytosolic proteasome complex involved in ERAD pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139204,'Experimental MF/BP Leaf Term GOA',NULL,13732,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0097421|P:liver regeneration|IDA',NULL,NULL,NULL,NULL,NULL),(139205,'Experimental MF/BP Leaf Term GOA',NULL,13733,NULL,'GO:2000620|P:positive regulation of histone H4-K16 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(139206,'Experimental MF/BP Leaf Term GOA',NULL,13735,NULL,'GO:0070996|F:type 1 melanocortin receptor binding|IDA; GO:0031781|F:type 3 melanocortin receptor binding|IPI; GO:0031782|F:type 4 melanocortin receptor binding|IPI; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0070965|P:positive regulation of neutrophil mediated killing of fungus|IDA',NULL,NULL,NULL,NULL,NULL),(139207,'Experimental MF/BP Leaf Term GOA',NULL,13739,NULL,'GO:0071773|P:cellular response to BMP stimulus|IMP; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(139208,'Experimental MF/BP Leaf Term GOA',NULL,13741,NULL,'GO:0070300|F:phosphatidic acid binding|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:2000009|P:negative regulation of protein localization to cell surface|IDA',NULL,NULL,NULL,NULL,NULL),(139209,'Experimental MF/BP Leaf Term GOA',NULL,13744,NULL,'GO:0042978|F:ornithine decarboxylase activator activity|IDA; GO:0098629|P:trans-Golgi network membrane organization|IMP',NULL,NULL,NULL,NULL,NULL),(139210,'Experimental MF/BP Leaf Term GOA',NULL,13749,NULL,'GO:0002083|F:4-hydroxybenzoate decaprenyltransferase activity|IMP',NULL,NULL,NULL,NULL,NULL),(139211,'Experimental MF/BP Leaf Term GOA',NULL,13750,NULL,'GO:0043333|F:2-octaprenyl-6-methoxy-1,4-benzoquinone methylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139212,'Experimental MF/BP Leaf Term GOA',NULL,13753,NULL,'GO:0051434|F:BH3 domain binding|IPI; GO:2000811|P:negative regulation of anoikis|IMP; GO:0090201|P:negative regulation of release of cytochrome c from mitochondria|IDA; GO:0001836|P:release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(139213,'Experimental MF/BP Leaf Term GOA',NULL,13754,NULL,'GO:0021692|P:cerebellar Purkinje cell layer morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(139214,'Experimental MF/BP Leaf Term GOA',NULL,13755,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139215,'Experimental MF/BP Leaf Term GOA',NULL,13756,NULL,'GO:2000271|P:positive regulation of fibroblast apoptotic process|IDA; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(139216,'Experimental MF/BP Leaf Term GOA',NULL,13757,NULL,'GO:1990001|P:inhibition of cysteine-type endopeptidase activity involved in apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(139217,'Experimental MF/BP Leaf Term GOA',NULL,13763,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:1904434|P:positive regulation of ferrous iron binding|IGI; GO:1904437|P:positive regulation of transferrin receptor binding|IGI',NULL,NULL,NULL,NULL,NULL),(139218,'Experimental MF/BP Leaf Term GOA',NULL,13764,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0007565|P:female pregnancy|IMP; GO:0003050|P:regulation of systemic arterial blood pressure by atrial natriuretic peptide|IMP',NULL,NULL,NULL,NULL,NULL),(139219,'Experimental MF/BP Leaf Term GOA',NULL,13767,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139220,'Experimental MF/BP Leaf Term GOA',NULL,13770,NULL,'GO:0030506|F:ankyrin binding|IPI; GO:0005452|F:inorganic anion exchanger activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0015701|P:bicarbonate transport|IDA',NULL,NULL,NULL,NULL,NULL),(139221,'Experimental MF/BP Leaf Term GOA',NULL,13772,NULL,'GO:0050650|P:chondroitin sulfate proteoglycan biosynthetic process|IDA; GO:0050651|P:dermatan sulfate proteoglycan biosynthetic process|IDA; GO:0015012|P:heparan sulfate proteoglycan biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139222,'Experimental MF/BP Leaf Term GOA',NULL,13774,NULL,'GO:0008532|F:N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity|IDA; GO:0030311|P:poly-N-acetyllactosamine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139223,'Experimental MF/BP Leaf Term GOA',NULL,13776,NULL,'GO:0008532|F:N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity|IDA; GO:0030311|P:poly-N-acetyllactosamine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139224,'Experimental MF/BP Leaf Term GOA',NULL,13777,NULL,'GO:0008457|F:beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|IDA; GO:0007417|P:central nervous system development|IDA',NULL,NULL,NULL,NULL,NULL),(139225,'Experimental MF/BP Leaf Term GOA',NULL,13778,NULL,'GO:0006784|P:heme a biosynthetic process|IGI',NULL,NULL,NULL,NULL,NULL),(139226,'Experimental MF/BP Leaf Term GOA',NULL,13780,NULL,'GO:0016262|F:protein N-acetylglucosaminyltransferase activity|IDA; GO:0030311|P:poly-N-acetyllactosamine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139227,'Experimental MF/BP Leaf Term GOA',NULL,13782,NULL,'GO:1903136|F:cuprous ion binding|IDA; GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IMP; GO:1904960|P:positive regulation of cytochrome-c oxidase activity|IMP',NULL,NULL,NULL,NULL,NULL),(139228,'Experimental MF/BP Leaf Term GOA',NULL,13783,NULL,'GO:0032977|F:membrane insertase activity|IDA; GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IMP; GO:0032979|P:protein insertion into mitochondrial inner membrane from matrix side|IDA',NULL,NULL,NULL,NULL,NULL),(139229,'Experimental MF/BP Leaf Term GOA',NULL,13784,NULL,'GO:0008499|F:UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|IDA; GO:0006682|P:galactosylceramide biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139230,'Experimental MF/BP Leaf Term GOA',NULL,13786,NULL,'GO:0008499|F:UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139231,'Experimental MF/BP Leaf Term GOA',NULL,13789,NULL,'GO:0035269|P:protein O-linked mannosylation|IDA',NULL,NULL,NULL,NULL,NULL),(139232,'Experimental MF/BP Leaf Term GOA',NULL,13792,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0003831|F:beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|IDA; GO:0048487|F:beta-tubulin binding|IPI; GO:0004461|F:lactose synthase activity|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0003945|F:N-acetyllactosamine synthase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139233,'Experimental MF/BP Leaf Term GOA',NULL,13796,NULL,'GO:0005164|F:tumor necrosis factor receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(139234,'Experimental MF/BP Leaf Term GOA',NULL,13797,NULL,'GO:0017049|F:GTP-Rho binding|IDA; GO:0035024|P:negative regulation of Rho protein signal transduction|IMP; GO:0043149|P:stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139235,'Experimental MF/BP Leaf Term GOA',NULL,13799,NULL,'GO:0004053|F:arginase activity|IMP; GO:2000774|P:positive regulation of cellular senescence|IDA',NULL,NULL,NULL,NULL,NULL),(139236,'Experimental MF/BP Leaf Term GOA',NULL,13801,NULL,'GO:0030676|F:Rac guanyl-nucleotide exchange factor activity|IMP',NULL,NULL,NULL,NULL,NULL),(139237,'Experimental MF/BP Leaf Term GOA',NULL,13802,NULL,'GO:0001540|F:amyloid-beta binding|IPI; GO:0035650|F:AP-1 adaptor complex binding|IDA; GO:0035612|F:AP-2 adaptor complex binding|IDA; GO:0035615|F:clathrin adaptor activity|IDA; GO:0050750|F:low-density lipoprotein particle receptor binding|IPI; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0001784|F:phosphotyrosine residue binding|IDA; GO:0042632|P:cholesterol homeostasis|IMP; GO:0034383|P:low-density lipoprotein particle clearance|IMP; GO:1905581|P:positive regulation of low-density lipoprotein particle clearance|IMP; GO:1905602|P:positive regulation of receptor-mediated endocytosis involved in cholesterol transport|IMP; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IMP; GO:0090118|P:receptor-mediated endocytosis involved in cholesterol transport|IMP',NULL,NULL,NULL,NULL,NULL),(139238,'Experimental MF/BP Leaf Term GOA',NULL,13805,NULL,'GO:0005525|F:GTP binding|IMP; GO:0007098|P:centrosome cycle|IMP; GO:0034260|P:negative regulation of GTPase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139239,'Experimental MF/BP Leaf Term GOA',NULL,13812,NULL,'GO:0005127|F:ciliary neurotrophic factor receptor binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(139240,'Experimental MF/BP Leaf Term GOA',NULL,13813,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0006883|P:cellular sodium ion homeostasis|IDA; GO:1990573|P:potassium ion import across plasma membrane|IDA; GO:0036376|P:sodium ion export across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(139241,'Experimental MF/BP Leaf Term GOA',NULL,13814,NULL,'GO:0070300|F:phosphatidic acid binding|IDA; GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0006882|P:cellular zinc ion homeostasis|IMP; GO:0097734|P:extracellular exosome biogenesis|IMP; GO:1990938|P:peptidyl-aspartic acid autophosphorylation|IMP; GO:1903543|P:positive regulation of exosomal secretion|IDA',NULL,NULL,NULL,NULL,NULL),(139242,'Experimental MF/BP Leaf Term GOA',NULL,13815,NULL,'GO:0097323|P:B cell adhesion|IDA; GO:0072602|P:interleukin-4 secretion|IDA',NULL,NULL,NULL,NULL,NULL),(139243,'Experimental MF/BP Leaf Term GOA',NULL,13817,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:1902476|P:chloride transmembrane transport|IMP',NULL,NULL,NULL,NULL,NULL),(139244,'Experimental MF/BP Leaf Term GOA',NULL,13820,NULL,'GO:0030317|P:flagellated sperm motility|IDA',NULL,NULL,NULL,NULL,NULL),(139245,'Experimental MF/BP Leaf Term GOA',NULL,13826,NULL,'GO:1905056|F:calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration|IDA; GO:1990034|P:calcium ion export across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(139246,'Experimental MF/BP Leaf Term GOA',NULL,13833,NULL,'GO:0043532|F:angiostatin binding|IPI; GO:0046933|F:proton-transporting ATP synthase activity, rotational mechanism|IMP',NULL,NULL,NULL,NULL,NULL),(139247,'Experimental MF/BP Leaf Term GOA',NULL,13834,NULL,'GO:0050957|P:equilibrioception|IMP; GO:0045494|P:photoreceptor cell maintenance|IMP; GO:0010592|P:positive regulation of lamellipodium assembly|IDA; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(139248,'Experimental MF/BP Leaf Term GOA',NULL,13837,NULL,'GO:0001540|F:amyloid-beta binding|IDA; GO:0050750|F:low-density lipoprotein particle receptor binding|IPI; GO:0051787|F:misfolded protein binding|IDA; GO:0048156|F:tau protein binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:0032286|P:central nervous system myelin maintenance|IMP; GO:0051131|P:chaperone-mediated protein complex assembly|IDA; GO:0061518|P:microglial cell proliferation|IDA; GO:1905907|P:negative regulation of amyloid fibril formation|IDA; GO:1902430|P:negative regulation of amyloid-beta formation|IDA; GO:1905892|P:negative regulation of cellular response to thapsigargin|IMP; GO:1905895|P:negative regulation of cellular response to tunicamycin|IMP; GO:1902998|P:positive regulation of neurofibrillary tangle assembly|IMP; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IDA; GO:1902949|P:positive regulation of tau-protein kinase activity|IMP; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(139249,'Experimental MF/BP Leaf Term GOA',NULL,13841,NULL,'GO:0004633|F:phosphopantothenoylcysteine decarboxylase activity|IDA; GO:0015937|P:coenzyme A biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139250,'Experimental MF/BP Leaf Term GOA',NULL,13844,NULL,'GO:0035987|P:endodermal cell differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(139251,'Experimental MF/BP Leaf Term GOA',NULL,13845,NULL,'GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(139252,'Experimental MF/BP Leaf Term GOA',NULL,13848,NULL,'GO:0006888|P:ER to Golgi vesicle-mediated transport|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(139253,'Experimental MF/BP Leaf Term GOA',NULL,13849,NULL,'GO:0070087|F:chromo shadow domain binding|IPI; GO:1904908|P:negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric|IMP; GO:1901582|P:positive regulation of telomeric RNA transcription from RNA pol II promoter|IMP',NULL,NULL,NULL,NULL,NULL),(139254,'Experimental MF/BP Leaf Term GOA',NULL,13851,NULL,'GO:0071773|P:cellular response to BMP stimulus|IDA; GO:0071347|P:cellular response to interleukin-1|IMP; GO:0071356|P:cellular response to tumor necrosis factor|IMP; GO:2001113|P:negative regulation of cellular response to hepatocyte growth factor stimulus|IDA; GO:1902203|P:negative regulation of hepatocyte growth factor receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139255,'Experimental MF/BP Leaf Term GOA',NULL,13852,NULL,'GO:0004838|F:L-tyrosine:2-oxoglutarate aminotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139256,'Experimental MF/BP Leaf Term GOA',NULL,13853,NULL,'GO:1904754|P:positive regulation of vascular associated smooth muscle cell migration|IGI; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IGI',NULL,NULL,NULL,NULL,NULL),(139257,'Experimental MF/BP Leaf Term GOA',NULL,13855,NULL,'GO:0032964|P:collagen biosynthetic process|IDA; GO:1900748|P:positive regulation of vascular endothelial growth factor signaling pathway|IDA; GO:0010573|P:vascular endothelial growth factor production|IDA',NULL,NULL,NULL,NULL,NULL),(139258,'Experimental MF/BP Leaf Term GOA',NULL,13856,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(139259,'Experimental MF/BP Leaf Term GOA',NULL,13866,NULL,'GO:0030165|F:PDZ domain binding|IPI; GO:0090630|P:activation of GTPase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139260,'Experimental MF/BP Leaf Term GOA',NULL,13867,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0061952|P:midbody abscission|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1902902|P:negative regulation of autophagosome assembly|IMP; GO:0097320|P:plasma membrane tubulation|IMP; GO:0006620|P:posttranslational protein targeting to endoplasmic reticulum membrane|IMP; GO:0039702|P:viral budding via host ESCRT complex|IDA',NULL,NULL,NULL,NULL,NULL),(139261,'Experimental MF/BP Leaf Term GOA',NULL,13869,NULL,'GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0071225|P:cellular response to muramyl dipeptide|IMP; GO:0061952|P:midbody abscission|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139262,'Experimental MF/BP Leaf Term GOA',NULL,13870,NULL,'GO:0061952|P:midbody abscission|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:0007175|P:negative regulation of epidermal growth factor-activated receptor activity|IMP; GO:0039702|P:viral budding via host ESCRT complex|IDA',NULL,NULL,NULL,NULL,NULL),(139263,'Experimental MF/BP Leaf Term GOA',NULL,13872,NULL,'GO:0035497|F:cAMP response element binding|IDA; GO:0008140|F:cAMP response element binding protein binding|IDA; GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA; GO:0031573|P:intra-S DNA damage checkpoint|IMP; GO:0110024|P:positive regulation of cardiac muscle myoblast proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(139264,'Experimental MF/BP Leaf Term GOA',NULL,13873,NULL,'GO:1903892|P:negative regulation of ATF6-mediated unfolded protein response|IDA; GO:1990440|P:positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress|IDA',NULL,NULL,NULL,NULL,NULL),(139265,'Experimental MF/BP Leaf Term GOA',NULL,13874,NULL,'GO:0032051|F:clathrin light chain binding|IPI; GO:0097718|F:disordered domain specific binding|IPI; GO:0050750|F:low-density lipoprotein particle receptor binding|IPI; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:1900126|P:negative regulation of hyaluronan biosynthetic process|IDA; GO:0033572|P:transferrin transport|IMP',NULL,NULL,NULL,NULL,NULL),(139266,'Experimental MF/BP Leaf Term GOA',NULL,13877,NULL,'GO:0004602|F:glutathione peroxidase activity|IDA; GO:0060315|P:negative regulation of ryanodine-sensitive calcium-release channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139267,'Experimental MF/BP Leaf Term GOA',NULL,13878,NULL,'GO:0000045|P:autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139268,'Experimental MF/BP Leaf Term GOA',NULL,13879,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0071455|P:cellular response to hyperoxia|IDA; GO:0039521|P:suppression by virus of host autophagy|IMP',NULL,NULL,NULL,NULL,NULL),(139269,'Experimental MF/BP Leaf Term GOA',NULL,13880,NULL,'GO:0007042|P:lysosomal lumen acidification|IMP; GO:0035752|P:lysosomal lumen pH elevation|IDA',NULL,NULL,NULL,NULL,NULL),(139270,'Experimental MF/BP Leaf Term GOA',NULL,13881,NULL,'GO:0007399|P:nervous system development|IMP',NULL,NULL,NULL,NULL,NULL),(139271,'Experimental MF/BP Leaf Term GOA',NULL,13883,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139272,'Experimental MF/BP Leaf Term GOA',NULL,13884,NULL,'GO:0047777|F:(3S)-citramalyl-CoA lyase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0004474|F:malate synthase activity|IDA; GO:0070207|P:protein homotrimerization|IDA',NULL,NULL,NULL,NULL,NULL),(139273,'Experimental MF/BP Leaf Term GOA',NULL,13888,NULL,'GO:0015810|P:aspartate transmembrane transport|IDA; GO:0043490|P:malate-aspartate shuttle|IDA',NULL,NULL,NULL,NULL,NULL),(139274,'Experimental MF/BP Leaf Term GOA',NULL,13889,NULL,'GO:0015810|P:aspartate transmembrane transport|IDA; GO:0043490|P:malate-aspartate shuttle|IDA',NULL,NULL,NULL,NULL,NULL),(139275,'Experimental MF/BP Leaf Term GOA',NULL,13890,NULL,'GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002551|P:mast cell chemotaxis|IDA; GO:0032762|P:mast cell cytokine production|IDA; GO:0043303|P:mast cell degranulation|IDA',NULL,NULL,NULL,NULL,NULL),(139276,'Experimental MF/BP Leaf Term GOA',NULL,13894,NULL,'GO:0042774|P:plasma membrane ATP synthesis coupled electron transport|IMP',NULL,NULL,NULL,NULL,NULL),(139277,'Experimental MF/BP Leaf Term GOA',NULL,13895,NULL,'GO:0043532|F:angiostatin binding|IPI; GO:0046933|F:proton-transporting ATP synthase activity, rotational mechanism|IMP; GO:0046961|F:proton-transporting ATPase activity, rotational mechanism|IMP',NULL,NULL,NULL,NULL,NULL),(139278,'Experimental MF/BP Leaf Term GOA',NULL,13898,NULL,'GO:1903292|P:protein localization to Golgi membrane|IMP',NULL,NULL,NULL,NULL,NULL),(139279,'Experimental MF/BP Leaf Term GOA',NULL,13901,NULL,'GO:0036158|P:outer dynein arm assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139280,'Experimental MF/BP Leaf Term GOA',NULL,13903,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0030544|F:Hsp70 protein binding|IDA; GO:0051879|F:Hsp90 protein binding|IDA; GO:0051787|F:misfolded protein binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0030911|F:TPR domain binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071218|P:cellular response to misfolded protein|IDA; GO:0090035|P:positive regulation of chaperone-mediated protein complex assembly|IDA; GO:0051865|P:protein autoubiquitination|IDA; GO:0030579|P:ubiquitin-dependent SMAD protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139281,'Experimental MF/BP Leaf Term GOA',NULL,13907,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0035774|P:positive regulation of insulin secretion involved in cellular response to glucose stimulus|IDA; GO:0035543|P:positive regulation of SNARE complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(139282,'Experimental MF/BP Leaf Term GOA',NULL,13909,NULL,'GO:0048312|P:intracellular distribution of mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(139283,'Experimental MF/BP Leaf Term GOA',NULL,13910,NULL,'GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(139284,'Experimental MF/BP Leaf Term GOA',NULL,13911,NULL,'GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(139285,'Experimental MF/BP Leaf Term GOA',NULL,13912,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0022617|P:extracellular matrix disassembly|IDA; GO:0050720|P:interleukin-1 beta biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139286,'Experimental MF/BP Leaf Term GOA',NULL,13914,NULL,'GO:0010759|P:positive regulation of macrophage chemotaxis|IMP',NULL,NULL,NULL,NULL,NULL),(139287,'Experimental MF/BP Leaf Term GOA',NULL,13920,NULL,'GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(139288,'Experimental MF/BP Leaf Term GOA',NULL,13927,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(139289,'Experimental MF/BP Leaf Term GOA',NULL,13928,NULL,'GO:0030970|P:retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(139290,'Experimental MF/BP Leaf Term GOA',NULL,13931,NULL,'GO:0097718|F:disordered domain specific binding|IPI; GO:0046982|F:protein heterodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(139291,'Experimental MF/BP Leaf Term GOA',NULL,13932,NULL,'GO:0043531|F:ADP binding|IDA',NULL,NULL,NULL,NULL,NULL),(139292,'Experimental MF/BP Leaf Term GOA',NULL,13934,NULL,'GO:0089720|F:caspase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139293,'Experimental MF/BP Leaf Term GOA',NULL,13935,NULL,'GO:0003785|F:actin monomer binding|IMP; GO:0008022|F:protein C-terminus binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0043320|P:natural killer cell degranulation|IMP',NULL,NULL,NULL,NULL,NULL),(139294,'Experimental MF/BP Leaf Term GOA',NULL,13936,NULL,'GO:0071933|F:Arp2/3 complex binding|IDA; GO:0090135|P:actin filament branching|IDA; GO:0036120|P:cellular response to platelet-derived growth factor stimulus|IMP; GO:0034316|P:negative regulation of Arp2/3 complex-mediated actin nucleation|IDA; GO:0071672|P:negative regulation of smooth muscle cell chemotaxis|IMP; GO:2000394|P:positive regulation of lamellipodium morphogenesis|IDA; GO:1902463|P:protein localization to cell leading edge|IDA',NULL,NULL,NULL,NULL,NULL),(139295,'Experimental MF/BP Leaf Term GOA',NULL,13938,NULL,'GO:0051895|P:negative regulation of focal adhesion assembly|IMP; GO:0044387|P:negative regulation of protein kinase activity by regulation of protein phosphorylation|IMP; GO:1900025|P:negative regulation of substrate adhesion-dependent cell spreading|IMP; GO:2000394|P:positive regulation of lamellipodium morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(139296,'Experimental MF/BP Leaf Term GOA',NULL,13941,NULL,'GO:0006895|P:Golgi to endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(139297,'Experimental MF/BP Leaf Term GOA',NULL,13942,NULL,'GO:0004879|F:nuclear receptor activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0001972|F:retinoic acid binding|IDA; GO:0060849|P:regulation of transcription involved in lymphatic endothelial cell fate commitment|IMP',NULL,NULL,NULL,NULL,NULL),(139298,'Experimental MF/BP Leaf Term GOA',NULL,13948,NULL,'GO:0006784|P:heme a biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(139299,'Experimental MF/BP Leaf Term GOA',NULL,13950,NULL,'GO:0008532|F:N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity|IDA; GO:0030311|P:poly-N-acetyllactosamine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139300,'Experimental MF/BP Leaf Term GOA',NULL,13951,NULL,'GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139301,'Experimental MF/BP Leaf Term GOA',NULL,13953,NULL,'GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IDA',NULL,NULL,NULL,NULL,NULL),(139302,'Experimental MF/BP Leaf Term GOA',NULL,13955,NULL,'GO:0008499|F:UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|IDA; GO:0006682|P:galactosylceramide biosynthetic process|IDA; GO:0030259|P:lipid glycosylation|IDA',NULL,NULL,NULL,NULL,NULL),(139303,'Experimental MF/BP Leaf Term GOA',NULL,13957,NULL,'GO:0001572|P:lactosylceramide biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139304,'Experimental MF/BP Leaf Term GOA',NULL,13958,NULL,'GO:0047963|F:glycine N-choloyltransferase activity|IDA; GO:0052817|F:very long chain acyl-CoA hydrolase activity|IDA; GO:0006699|P:bile acid biosynthetic process|IDA; GO:0002152|P:bile acid conjugation|IDA',NULL,NULL,NULL,NULL,NULL),(139305,'Experimental MF/BP Leaf Term GOA',NULL,13961,NULL,'GO:0097726|F:LEM domain binding|IMP; GO:0008022|F:protein C-terminus binding|IMP; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(139306,'Experimental MF/BP Leaf Term GOA',NULL,13962,NULL,'GO:0005112|F:Notch binding|IPI',NULL,NULL,NULL,NULL,NULL),(139307,'Experimental MF/BP Leaf Term GOA',NULL,13963,NULL,'GO:1990502|P:dense core granule maturation|IMP; GO:0035774|P:positive regulation of insulin secretion involved in cellular response to glucose stimulus|IMP; GO:1905413|P:regulation of dense core granule exocytosis|IDA',NULL,NULL,NULL,NULL,NULL),(139308,'Experimental MF/BP Leaf Term GOA',NULL,13964,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139309,'Experimental MF/BP Leaf Term GOA',NULL,13966,NULL,'GO:0000045|P:autophagosome assembly|IMP; GO:0016240|P:autophagosome membrane docking|IDA; GO:0000423|P:mitophagy|IMP',NULL,NULL,NULL,NULL,NULL),(139310,'Experimental MF/BP Leaf Term GOA',NULL,13969,NULL,'GO:0015184|F:L-cystine transmembrane transporter activity|IMP',NULL,NULL,NULL,NULL,NULL),(139311,'Experimental MF/BP Leaf Term GOA',NULL,13971,NULL,'GO:0008013|F:beta-catenin binding|IDA',NULL,NULL,NULL,NULL,NULL),(139312,'Experimental MF/BP Leaf Term GOA',NULL,13972,NULL,'GO:0050700|F:CARD domain binding|IPI; GO:0051059|F:NF-kappaB binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0043422|F:protein kinase B binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IDA; GO:0002906|P:negative regulation of mature B cell apoptotic process|IDA; GO:0045416|P:positive regulation of interleukin-8 biosynthetic process|IMP; GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139313,'Experimental MF/BP Leaf Term GOA',NULL,13974,NULL,'GO:0003858|F:3-hydroxybutyrate dehydrogenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139314,'Experimental MF/BP Leaf Term GOA',NULL,13975,NULL,'GO:0003858|F:3-hydroxybutyrate dehydrogenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139315,'Experimental MF/BP Leaf Term GOA',NULL,13977,NULL,'GO:0030199|P:collagen fibril organization|IDA; GO:0007605|P:sensory perception of sound|IMP; GO:0060023|P:soft palate development|IMP',NULL,NULL,NULL,NULL,NULL),(139316,'Experimental MF/BP Leaf Term GOA',NULL,13978,NULL,'GO:0042776|P:mitochondrial ATP synthesis coupled proton transport|IMP',NULL,NULL,NULL,NULL,NULL),(139317,'Experimental MF/BP Leaf Term GOA',NULL,13981,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(139318,'Experimental MF/BP Leaf Term GOA',NULL,13983,NULL,'GO:0034063|P:stress granule assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139319,'Experimental MF/BP Leaf Term GOA',NULL,13984,NULL,'GO:2000854|P:positive regulation of corticosterone secretion|IGI; GO:0051461|P:positive regulation of corticotropin secretion|IGI; GO:0051466|P:positive regulation of corticotropin-releasing hormone secretion|IGI',NULL,NULL,NULL,NULL,NULL),(139320,'Experimental MF/BP Leaf Term GOA',NULL,13985,NULL,'GO:0030169|F:low-density lipoprotein particle binding|IDA; GO:0071360|P:cellular response to exogenous dsRNA|IMP; GO:0060355|P:positive regulation of cell adhesion molecule production|IMP; GO:0034138|P:toll-like receptor 3 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139321,'Experimental MF/BP Leaf Term GOA',NULL,13986,NULL,'GO:2001033|P:negative regulation of double-strand break repair via nonhomologous end joining|IDA',NULL,NULL,NULL,NULL,NULL),(139322,'Experimental MF/BP Leaf Term GOA',NULL,13990,NULL,'GO:0051256|P:mitotic spindle midzone assembly|IMP; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(139323,'Experimental MF/BP Leaf Term GOA',NULL,13995,NULL,'GO:0047196|F:long-chain-alcohol O-fatty-acyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(139324,'Experimental MF/BP Leaf Term GOA',NULL,13996,NULL,'GO:0047196|F:long-chain-alcohol O-fatty-acyltransferase activity|EXP; GO:0050252|F:retinol O-fatty-acyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(139325,'Experimental MF/BP Leaf Term GOA',NULL,14004,NULL,'GO:0051059|F:NF-kappaB binding|IPI',NULL,NULL,NULL,NULL,NULL),(139326,'Experimental MF/BP Leaf Term GOA',NULL,14005,NULL,'GO:0051059|F:NF-kappaB binding|IDA',NULL,NULL,NULL,NULL,NULL),(139327,'Experimental MF/BP Leaf Term GOA',NULL,14007,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0070411|F:I-SMAD binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139328,'Experimental MF/BP Leaf Term GOA',NULL,14008,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139329,'Experimental MF/BP Leaf Term GOA',NULL,14011,NULL,'GO:0042978|F:ornithine decarboxylase activator activity|IDA; GO:1902269|P:positive regulation of polyamine transmembrane transport|IDA',NULL,NULL,NULL,NULL,NULL),(139330,'Experimental MF/BP Leaf Term GOA',NULL,14013,NULL,'GO:0043985|P:histone H4-R3 methylation|IDA',NULL,NULL,NULL,NULL,NULL),(139331,'Experimental MF/BP Leaf Term GOA',NULL,14019,NULL,'GO:0003947|F:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity|IMP',NULL,NULL,NULL,NULL,NULL),(139332,'Experimental MF/BP Leaf Term GOA',NULL,14021,NULL,'GO:0003831|F:beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0046525|F:xylosylprotein 4-beta-galactosyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139333,'Experimental MF/BP Leaf Term GOA',NULL,14023,NULL,'GO:0006682|P:galactosylceramide biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139334,'Experimental MF/BP Leaf Term GOA',NULL,14027,NULL,'GO:0000774|F:adenyl-nucleotide exchange factor activity|IDA; GO:0051087|F:chaperone binding|IPI; GO:0046716|P:muscle cell cellular homeostasis|IMP; GO:1905337|P:positive regulation of aggrephagy|IMP; GO:0042307|P:positive regulation of protein import into nucleus|IMP; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(139335,'Experimental MF/BP Leaf Term GOA',NULL,14029,NULL,'GO:0051787|F:misfolded protein binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0061857|P:endoplasmic reticulum stress-induced pre-emptive quality control|IMP; GO:0071712|P:ER-associated misfolded protein catabolic process|IDA; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP; GO:1904378|P:maintenance of unfolded protein involved in ERAD pathway|IMP; GO:0071816|P:tail-anchored membrane protein insertion into ER membrane|IDA',NULL,NULL,NULL,NULL,NULL),(139336,'Experimental MF/BP Leaf Term GOA',NULL,14030,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139337,'Experimental MF/BP Leaf Term GOA',NULL,14034,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP; GO:0034551|P:mitochondrial respiratory chain complex III assembly|IMP; GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139338,'Experimental MF/BP Leaf Term GOA',NULL,14035,NULL,'GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IMP; GO:1903071|P:positive regulation of ER-associated ubiquitin-dependent protein catabolic process|IGI; GO:0051561|P:positive regulation of mitochondrial calcium ion concentration|IMP; GO:1904154|P:positive regulation of retrograde protein transport, ER to cytosol|IDA',NULL,NULL,NULL,NULL,NULL),(139339,'Experimental MF/BP Leaf Term GOA',NULL,14037,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0042826|F:histone deacetylase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139340,'Experimental MF/BP Leaf Term GOA',NULL,14038,NULL,'GO:0005096|F:GTPase activator activity|IMP; GO:1990450|F:linear polyubiquitin binding|IDA',NULL,NULL,NULL,NULL,NULL),(139341,'Experimental MF/BP Leaf Term GOA',NULL,14039,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0008353|F:RNA polymerase II CTD heptapeptide repeat kinase activity|IMP',NULL,NULL,NULL,NULL,NULL),(139342,'Experimental MF/BP Leaf Term GOA',NULL,14042,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139343,'Experimental MF/BP Leaf Term GOA',NULL,14044,NULL,'GO:0005524|F:ATP binding|IDA; GO:0030332|F:cyclin binding|IPI; GO:0004693|F:cyclin-dependent protein serine/threonine kinase activity|IDA; GO:0098770|F:FBXO family protein binding|IPI; GO:0042063|P:gliogenesis|IMP; GO:2000773|P:negative regulation of cellular senescence|IDA; GO:0045656|P:negative regulation of monocyte differentiation|IDA; GO:0003323|P:type B pancreatic cell development|IDA',NULL,NULL,NULL,NULL,NULL),(139344,'Experimental MF/BP Leaf Term GOA',NULL,14046,NULL,'GO:0000712|P:resolution of meiotic recombination intermediates|IMP',NULL,NULL,NULL,NULL,NULL),(139345,'Experimental MF/BP Leaf Term GOA',NULL,14048,NULL,'GO:0001729|F:ceramide kinase activity|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(139346,'Experimental MF/BP Leaf Term GOA',NULL,14051,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(139347,'Experimental MF/BP Leaf Term GOA',NULL,14052,NULL,'GO:0050291|F:sphingosine N-acyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139348,'Experimental MF/BP Leaf Term GOA',NULL,14056,NULL,'GO:1904888|P:cranial skeletal system development|IMP; GO:0061952|P:midbody abscission|IMP; GO:0072001|P:renal system development|IMP',NULL,NULL,NULL,NULL,NULL),(139349,'Experimental MF/BP Leaf Term GOA',NULL,14066,NULL,'GO:0004550|F:nucleoside diphosphate kinase activity|IDA; GO:0033862|F:UMP kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139350,'Experimental MF/BP Leaf Term GOA',NULL,14078,NULL,'GO:0008022|F:protein C-terminus binding|IDA; GO:0031718|F:type 1 cannabinoid receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(139351,'Experimental MF/BP Leaf Term GOA',NULL,14079,NULL,'GO:0004535|F:poly(A)-specific ribonuclease activity|IDA; GO:0043928|P:exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|IDA; GO:0070966|P:nuclear-transcribed mRNA catabolic process, no-go decay|IMP; GO:0010606|P:positive regulation of cytoplasmic mRNA processing body assembly|IMP; GO:2000327|P:positive regulation of nuclear receptor transcription coactivator activity|IDA',NULL,NULL,NULL,NULL,NULL),(139352,'Experimental MF/BP Leaf Term GOA',NULL,14082,NULL,'GO:0022010|P:central nervous system myelination|IMP; GO:0022011|P:myelination in peripheral nervous system|IMP; GO:0030913|P:paranodal junction assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139353,'Experimental MF/BP Leaf Term GOA',NULL,14091,NULL,'GO:0048407|F:platelet-derived growth factor binding|IDA; GO:0032964|P:collagen biosynthetic process|IMP; GO:0030199|P:collagen fibril organization|IMP; GO:0007605|P:sensory perception of sound|IMP; GO:0043589|P:skin morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(139354,'Experimental MF/BP Leaf Term GOA',NULL,14096,NULL,'GO:0090560|F:2-(3-amino-3-carboxypropyl)histidine synthase activity|EXP',NULL,NULL,NULL,NULL,NULL),(139355,'Experimental MF/BP Leaf Term GOA',NULL,14097,NULL,'GO:0030199|P:collagen fibril organization|IMP; GO:0043588|P:skin development|IMP',NULL,NULL,NULL,NULL,NULL),(139356,'Experimental MF/BP Leaf Term GOA',NULL,14099,NULL,'GO:0010760|P:negative regulation of macrophage chemotaxis|IDA; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IDA',NULL,NULL,NULL,NULL,NULL),(139357,'Experimental MF/BP Leaf Term GOA',NULL,14101,NULL,'GO:0048407|F:platelet-derived growth factor binding|IDA; GO:0030199|P:collagen fibril organization|IMP; GO:0043589|P:skin morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(139358,'Experimental MF/BP Leaf Term GOA',NULL,14103,NULL,'GO:0003887|F:DNA-directed DNA polymerase activity|IMP; GO:0006287|P:base-excision repair, gap-filling|IDA; GO:0055089|P:fatty acid homeostasis|IMP; GO:0006297|P:nucleotide-excision repair, DNA gap filling|IMP',NULL,NULL,NULL,NULL,NULL),(139359,'Experimental MF/BP Leaf Term GOA',NULL,14105,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(139360,'Experimental MF/BP Leaf Term GOA',NULL,14110,NULL,'GO:0045792|P:negative regulation of cell size|IMP',NULL,NULL,NULL,NULL,NULL),(139361,'Experimental MF/BP Leaf Term GOA',NULL,14111,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(139362,'Experimental MF/BP Leaf Term GOA',NULL,14112,NULL,'GO:0017113|F:dihydropyrimidine dehydrogenase (NADP+) activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0006214|P:thymidine catabolic process|IDA; GO:0006210|P:thymine catabolic process|IDA; GO:0006212|P:uracil catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139363,'Experimental MF/BP Leaf Term GOA',NULL,14113,NULL,'GO:0031005|F:filamin binding|IPI; GO:1904530|P:negative regulation of actin filament binding|IDA',NULL,NULL,NULL,NULL,NULL),(139364,'Experimental MF/BP Leaf Term GOA',NULL,14115,NULL,'GO:0031005|F:filamin binding|IPI',NULL,NULL,NULL,NULL,NULL),(139365,'Experimental MF/BP Leaf Term GOA',NULL,14116,NULL,'GO:0031005|F:filamin binding|IPI',NULL,NULL,NULL,NULL,NULL),(139366,'Experimental MF/BP Leaf Term GOA',NULL,14118,NULL,'GO:0004157|F:dihydropyrimidinase activity|IDA; GO:0006212|P:uracil catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139367,'Experimental MF/BP Leaf Term GOA',NULL,14121,NULL,'GO:0002455|P:humoral immune response mediated by circulating immunoglobulin|IDA',NULL,NULL,NULL,NULL,NULL),(139368,'Experimental MF/BP Leaf Term GOA',NULL,14126,NULL,'GO:0004745|F:retinol dehydrogenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139369,'Experimental MF/BP Leaf Term GOA',NULL,14128,NULL,'GO:0045494|P:photoreceptor cell maintenance|IMP',NULL,NULL,NULL,NULL,NULL),(139370,'Experimental MF/BP Leaf Term GOA',NULL,14130,NULL,'GO:0042605|F:peptide antigen binding|IDA; GO:0002503|P:peptide antigen assembly with MHC class II protein complex|IDA; GO:0002506|P:polysaccharide assembly with MHC class II protein complex|IDA',NULL,NULL,NULL,NULL,NULL),(139371,'Experimental MF/BP Leaf Term GOA',NULL,14136,NULL,'GO:0060285|P:cilium-dependent cell motility|IMP',NULL,NULL,NULL,NULL,NULL),(139372,'Experimental MF/BP Leaf Term GOA',NULL,14140,NULL,'GO:0043395|F:heparan sulfate proteoglycan binding|IDA; GO:0008201|F:heparin binding|IDA; GO:0060173|P:limb development|IDA',NULL,NULL,NULL,NULL,NULL),(139373,'Experimental MF/BP Leaf Term GOA',NULL,14141,NULL,'GO:0016206|F:catechol O-methyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139374,'Experimental MF/BP Leaf Term GOA',NULL,14142,NULL,'GO:0001540|F:amyloid-beta binding|IDA; GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(139375,'Experimental MF/BP Leaf Term GOA',NULL,14143,NULL,'GO:0001591|F:dopamine neurotransmitter receptor activity, coupled via Gi/Go|IDA; GO:0007191|P:adenylate cyclase-activating dopamine receptor signaling pathway|IDA; GO:0007195|P:adenylate cyclase-inhibiting dopamine receptor signaling pathway|IDA; GO:0050482|P:arachidonic acid secretion|IDA; GO:0048148|P:behavioral response to cocaine|IEP; GO:0060134|P:prepulse inhibition|IMP',NULL,NULL,NULL,NULL,NULL),(139376,'Experimental MF/BP Leaf Term GOA',NULL,14144,NULL,'GO:0030157|P:pancreatic juice secretion|IDA',NULL,NULL,NULL,NULL,NULL),(139377,'Experimental MF/BP Leaf Term GOA',NULL,14145,NULL,'GO:0035240|F:dopamine binding|IDA; GO:0007191|P:adenylate cyclase-activating dopamine receptor signaling pathway|IDA; GO:0033861|P:negative regulation of NAD(P)H oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139378,'Experimental MF/BP Leaf Term GOA',NULL,14147,NULL,'GO:0034551|P:mitochondrial respiratory chain complex III assembly|IDA',NULL,NULL,NULL,NULL,NULL),(139379,'Experimental MF/BP Leaf Term GOA',NULL,14153,NULL,'GO:0046961|F:proton-transporting ATPase activity, rotational mechanism|IGI',NULL,NULL,NULL,NULL,NULL),(139380,'Experimental MF/BP Leaf Term GOA',NULL,14154,NULL,'GO:0019869|F:chloride channel inhibitor activity|IDA; GO:0097352|P:autophagosome maturation|IMP; GO:0016240|P:autophagosome membrane docking|IDA; GO:0070254|P:mucus secretion|IMP; GO:1903595|P:positive regulation of histamine secretion by mast cell|IMP',NULL,NULL,NULL,NULL,NULL),(139381,'Experimental MF/BP Leaf Term GOA',NULL,14155,NULL,'GO:0048487|F:beta-tubulin binding|IDA; GO:0033149|F:FFAT motif binding|IMP; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0090114|P:COPII-coated vesicle budding|IMP; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0036498|P:IRE1-mediated unfolded protein response|IDA; GO:0044830|P:modulation by host of viral RNA genome replication|IDA; GO:0044828|P:negative regulation by host of viral genome replication|IDA; GO:0044790|P:negative regulation by host of viral release from host cell|IDA; GO:0046725|P:negative regulation by virus of viral protein levels in host cell|IDA; GO:0044829|P:positive regulation by host of viral genome replication|IDA; GO:0044791|P:positive regulation by host of viral release from host cell|IDA',NULL,NULL,NULL,NULL,NULL),(139382,'Experimental MF/BP Leaf Term GOA',NULL,14157,NULL,'GO:0035175|F:histone kinase activity (H3-S10 specific)|IDA; GO:0072354|F:histone kinase activity (H3-T3 specific)|IDA; GO:0031493|F:nucleosomal histone binding|IPI; GO:0090166|P:Golgi disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(139383,'Experimental MF/BP Leaf Term GOA',NULL,14162,NULL,'GO:0034314|P:Arp2/3 complex-mediated actin nucleation|IDA; GO:0045022|P:early endosome to late endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(139384,'Experimental MF/BP Leaf Term GOA',NULL,14165,NULL,'GO:0030507|F:spectrin binding|IDA; GO:0050957|P:equilibrioception|IMP; GO:0045494|P:photoreceptor cell maintenance|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(139385,'Experimental MF/BP Leaf Term GOA',NULL,14166,NULL,'GO:0045494|P:photoreceptor cell maintenance|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(139386,'Experimental MF/BP Leaf Term GOA',NULL,14167,NULL,'GO:0030890|P:positive regulation of B cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(139387,'Experimental MF/BP Leaf Term GOA',NULL,14169,NULL,'GO:0047057|F:vitamin-K-epoxide reductase (warfarin-sensitive) activity|IDA; GO:0007596|P:blood coagulation|IMP; GO:0017187|P:peptidyl-glutamic acid carboxylation|IMP',NULL,NULL,NULL,NULL,NULL),(139388,'Experimental MF/BP Leaf Term GOA',NULL,14170,NULL,'GO:0097352|P:autophagosome maturation|IMP',NULL,NULL,NULL,NULL,NULL),(139389,'Experimental MF/BP Leaf Term GOA',NULL,14173,NULL,'GO:0030331|F:estrogen receptor binding|IPI; GO:0071391|P:cellular response to estrogen stimulus|IMP; GO:0071442|P:positive regulation of histone H3-K14 acetylation|IMP; GO:0033148|P:positive regulation of intracellular estrogen receptor signaling pathway|IDA; GO:0050847|P:progesterone receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139390,'Experimental MF/BP Leaf Term GOA',NULL,14178,NULL,'GO:0005484|F:SNAP receptor activity|IDA; GO:0006888|P:ER to Golgi vesicle-mediated transport|IDA',NULL,NULL,NULL,NULL,NULL),(139391,'Experimental MF/BP Leaf Term GOA',NULL,14218,NULL,'GO:0002039|F:p53 binding|IPI',NULL,NULL,NULL,NULL,NULL),(139392,'Experimental MF/BP Leaf Term GOA',NULL,14220,NULL,'GO:0016973|P:poly(A)+ mRNA export from nucleus|IMP',NULL,NULL,NULL,NULL,NULL),(139393,'Experimental MF/BP Leaf Term GOA',NULL,14241,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(139394,'Experimental MF/BP Leaf Term GOA',NULL,14257,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0009650|P:UV protection|IDA',NULL,NULL,NULL,NULL,NULL),(139395,'Experimental MF/BP Leaf Term GOA',NULL,14258,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0030158|F:protein xylosyltransferase activity|IDA; GO:0050650|P:chondroitin sulfate proteoglycan biosynthetic process|IMP; GO:0015012|P:heparan sulfate proteoglycan biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(139396,'Experimental MF/BP Leaf Term GOA',NULL,14259,NULL,'GO:0035195|P:gene silencing by miRNA|IMP; GO:0035331|P:negative regulation of hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(139397,'Experimental MF/BP Leaf Term GOA',NULL,14262,NULL,'GO:0061184|P:positive regulation of dermatome development|IDA; GO:0043568|P:positive regulation of insulin-like growth factor receptor signaling pathway|IDA; GO:0010592|P:positive regulation of lamellipodium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139398,'Experimental MF/BP Leaf Term GOA',NULL,14265,NULL,'GO:0030158|F:protein xylosyltransferase activity|IDA; GO:0050650|P:chondroitin sulfate proteoglycan biosynthetic process|IMP; GO:0015012|P:heparan sulfate proteoglycan biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(139399,'Experimental MF/BP Leaf Term GOA',NULL,14267,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(139400,'Experimental MF/BP Leaf Term GOA',NULL,14268,NULL,'GO:0010836|P:negative regulation of protein ADP-ribosylation|IMP; GO:1904877|P:positive regulation of DNA ligase activity|IMP; GO:1990414|P:replication-born double-strand break repair via sister chromatid exchange|IMP; GO:0050882|P:voluntary musculoskeletal movement|IMP',NULL,NULL,NULL,NULL,NULL),(139401,'Experimental MF/BP Leaf Term GOA',NULL,14269,NULL,'GO:1990247|F:N6-methyladenosine-containing RNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(139402,'Experimental MF/BP Leaf Term GOA',NULL,14276,NULL,'GO:0031748|F:D1 dopamine receptor binding|IPI; GO:0043653|P:mitochondrial fragmentation involved in apoptotic process|IMP; GO:0099074|P:mitochondrion to lysosome transport|IMP; GO:1902823|P:negative regulation of late endosome to lysosome transport|IMP; GO:0090141|P:positive regulation of mitochondrial fission|IMP',NULL,NULL,NULL,NULL,NULL),(139403,'Experimental MF/BP Leaf Term GOA',NULL,14278,NULL,'GO:0045503|F:dynein light chain binding|IPI',NULL,NULL,NULL,NULL,NULL),(139404,'Experimental MF/BP Leaf Term GOA',NULL,14279,NULL,'GO:0080182|P:histone H3-K4 trimethylation|IMP; GO:0032968|P:positive regulation of transcription elongation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(139405,'Experimental MF/BP Leaf Term GOA',NULL,14280,NULL,'GO:1990247|F:N6-methyladenosine-containing RNA binding|IDA; GO:0044829|P:positive regulation by host of viral genome replication|IMP',NULL,NULL,NULL,NULL,NULL),(139406,'Experimental MF/BP Leaf Term GOA',NULL,14284,NULL,'GO:0001502|P:cartilage condensation|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IEP; GO:0060997|P:dendritic spine morphogenesis|IDA; GO:0042733|P:embryonic digit morphogenesis|IMP; GO:0035115|P:embryonic forelimb morphogenesis|IMP; GO:0035116|P:embryonic hindlimb morphogenesis|IMP; GO:0060054|P:positive regulation of epithelial cell proliferation involved in wound healing|IDA; GO:1904891|P:positive regulation of excitatory synapse assembly|IDA; GO:0062009|P:secondary palate development|IMP; GO:0035313|P:wound healing, spreading of epidermal cells|IDA',NULL,NULL,NULL,NULL,NULL),(139407,'Experimental MF/BP Leaf Term GOA',NULL,14286,NULL,'GO:0071560|P:cellular response to transforming growth factor beta stimulus|IEP; GO:0001942|P:hair follicle development|IMP; GO:0031069|P:hair follicle morphogenesis|IMP; GO:0043588|P:skin development|IMP; GO:0043586|P:tongue development|IMP',NULL,NULL,NULL,NULL,NULL),(139408,'Experimental MF/BP Leaf Term GOA',NULL,14287,NULL,'GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP',NULL,NULL,NULL,NULL,NULL),(139409,'Experimental MF/BP Leaf Term GOA',NULL,14289,NULL,'GO:0070742|F:C2H2 zinc finger domain binding|IPI; GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0010385|F:double-stranded methylated DNA binding|IDA; GO:0044729|F:hemi-methylated DNA-binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0030325|P:adrenal gland development|IGI; GO:0001658|P:branching involved in ureteric bud morphogenesis|IGI; GO:0071320|P:cellular response to cAMP|IEP; GO:0008584|P:male gonad development|IEP; GO:0072284|P:metanephric S-shaped body morphogenesis|IGI; GO:1905643|P:positive regulation of DNA methylation|IMP; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IMP; GO:0061032|P:visceral serous pericardium development|IGI',NULL,NULL,NULL,NULL,NULL),(139410,'Experimental MF/BP Leaf Term GOA',NULL,14290,NULL,'GO:0005096|F:GTPase activator activity|IMP; GO:0030325|P:adrenal gland development|IEP; GO:0060197|P:cloacal septation|IEP; GO:0072177|P:mesonephric duct development|IEP; GO:0090037|P:positive regulation of protein kinase C signaling|IMP; GO:0051496|P:positive regulation of stress fiber assembly|IMP; GO:0034394|P:protein localization to cell surface|IMP; GO:0062009|P:secondary palate development|IMP; GO:0060675|P:ureteric bud morphogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(139411,'Experimental MF/BP Leaf Term GOA',NULL,14292,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(139412,'Experimental MF/BP Leaf Term GOA',NULL,14298,NULL,'GO:0050431|F:transforming growth factor beta binding|IDA',NULL,NULL,NULL,NULL,NULL),(139413,'Experimental MF/BP Leaf Term GOA',NULL,14302,NULL,'GO:0035329|P:hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(139414,'Experimental MF/BP Leaf Term GOA',NULL,14305,NULL,'GO:0043652|P:engulfment of apoptotic cell|IDA; GO:0070782|P:phosphatidylserine exposure on apoptotic cell surface|IDA',NULL,NULL,NULL,NULL,NULL),(139415,'Experimental MF/BP Leaf Term GOA',NULL,14306,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IDA; GO:1902530|P:positive regulation of protein linear polyubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139416,'Experimental MF/BP Leaf Term GOA',NULL,14308,NULL,'GO:0043616|P:keratinocyte proliferation|IMP; GO:0090403|P:oxidative stress-induced premature senescence|IMP; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP; GO:0090399|P:replicative senescence|IMP',NULL,NULL,NULL,NULL,NULL),(139417,'Experimental MF/BP Leaf Term GOA',NULL,14310,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:1905768|P:negative regulation of double-stranded telomeric DNA binding|IDA; GO:1905765|P:negative regulation of protection from non-homologous end joining at telomere|IMP; GO:0006295|P:nucleotide-excision repair, DNA incision, 3\'-to lesion|IMP; GO:0006296|P:nucleotide-excision repair, DNA incision, 5\'-to lesion|IMP; GO:0061819|P:telomeric DNA-containing double minutes formation|IMP',NULL,NULL,NULL,NULL,NULL),(139418,'Experimental MF/BP Leaf Term GOA',NULL,14311,NULL,'GO:0000822|F:inositol hexakisphosphate binding|IDA; GO:0001618|F:virus receptor activity|IMP; GO:0030643|P:cellular phosphate ion homeostasis|IMP',NULL,NULL,NULL,NULL,NULL),(139419,'Experimental MF/BP Leaf Term GOA',NULL,14312,NULL,'GO:0004534|F:5\'-3\' exoribonuclease activity|IMP',NULL,NULL,NULL,NULL,NULL),(139420,'Experimental MF/BP Leaf Term GOA',NULL,14315,NULL,'GO:0005049|F:nuclear export signal receptor activity|IMP; GO:0000055|P:ribosomal large subunit export from nucleus|IMP; GO:0000056|P:ribosomal small subunit export from nucleus|IMP; GO:0042254|P:ribosome biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(139421,'Experimental MF/BP Leaf Term GOA',NULL,14316,NULL,'GO:0110104|P:mRNA alternative polyadenylation|IDA',NULL,NULL,NULL,NULL,NULL),(139422,'Experimental MF/BP Leaf Term GOA',NULL,14319,NULL,'GO:2000234|P:positive regulation of rRNA processing|IMP',NULL,NULL,NULL,NULL,NULL),(139423,'Experimental MF/BP Leaf Term GOA',NULL,14322,NULL,'GO:0043274|F:phospholipase binding|IPI; GO:0017124|F:SH3 domain binding|IPI; GO:0032488|P:Cdc42 protein signal transduction|IMP; GO:0051497|P:negative regulation of stress fiber assembly|IMP; GO:1905168|P:positive regulation of double-strand break repair via homologous recombination|IDA',NULL,NULL,NULL,NULL,NULL),(139424,'Experimental MF/BP Leaf Term GOA',NULL,14325,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA; GO:0045022|P:early endosome to late endosome transport|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(139425,'Experimental MF/BP Leaf Term GOA',NULL,14326,NULL,'GO:0005109|F:frizzled binding|IPI; GO:0044338|P:canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation|IMP; GO:1904954|P:canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation|IMP; GO:0044339|P:canonical Wnt signaling pathway involved in osteoblast differentiation|IMP; GO:1905474|P:canonical Wnt signaling pathway involved in stem cell proliferation|IDA; GO:0060174|P:limb bud formation|IMP; GO:0061180|P:mammary gland epithelium development|IEP',NULL,NULL,NULL,NULL,NULL),(139426,'Experimental MF/BP Leaf Term GOA',NULL,14328,NULL,'GO:0017147|F:Wnt-protein binding|IPI; GO:0061357|P:positive regulation of Wnt protein secretion|IMP',NULL,NULL,NULL,NULL,NULL),(139427,'Experimental MF/BP Leaf Term GOA',NULL,14329,NULL,'GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0010314|F:phosphatidylinositol-5-phosphate binding|IDA; GO:0000045|P:autophagosome assembly|IMP; GO:0034497|P:protein localization to phagophore assembly site|IMP',NULL,NULL,NULL,NULL,NULL),(139428,'Experimental MF/BP Leaf Term GOA',NULL,14331,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:0060394|P:negative regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IDA; GO:2000353|P:positive regulation of endothelial cell apoptotic process|IDA; GO:0045348|P:positive regulation of MHC class II biosynthetic process|IMP; GO:1900100|P:positive regulation of plasma cell differentiation|IDA; GO:0042307|P:positive regulation of protein import into nucleus|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:0006990|P:positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|IDA; GO:1904754|P:positive regulation of vascular associated smooth muscle cell migration|IDA; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IDA; GO:0035470|P:positive regulation of vascular wound healing|IDA; GO:0031648|P:protein destabilization|IDA',NULL,NULL,NULL,NULL,NULL),(139429,'Experimental MF/BP Leaf Term GOA',NULL,14332,NULL,'GO:0019869|F:chloride channel inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(139430,'Experimental MF/BP Leaf Term GOA',NULL,14335,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(139431,'Experimental MF/BP Leaf Term GOA',NULL,14341,NULL,'GO:0005524|F:ATP binding|IMP; GO:0008022|F:protein C-terminus binding|IPI; GO:0034058|P:endosomal vesicle fusion|IMP; GO:0061952|P:midbody abscission|IMP; GO:0044878|P:mitotic cytokinesis checkpoint|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1903543|P:positive regulation of exosomal secretion|IMP; GO:1903774|P:positive regulation of viral budding via host ESCRT complex|IMP; GO:0043162|P:ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway|IMP; GO:0090611|P:ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway|IMP; GO:0039702|P:viral budding via host ESCRT complex|IGI',NULL,NULL,NULL,NULL,NULL),(139432,'Experimental MF/BP Leaf Term GOA',NULL,14347,NULL,'GO:0000738|P:DNA catabolic process, exonucleolytic|IDA; GO:0007283|P:spermatogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(139433,'Experimental MF/BP Leaf Term GOA',NULL,14349,NULL,'GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(139434,'Experimental MF/BP Leaf Term GOA',NULL,14350,NULL,'GO:0071140|P:resolution of mitotic recombination intermediates|IMP; GO:0090656|P:t-circle formation|IMP; GO:0090737|P:telomere maintenance via telomere trimming|IGI',NULL,NULL,NULL,NULL,NULL),(139435,'Experimental MF/BP Leaf Term GOA',NULL,14393,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0071947|P:protein deubiquitination involved in ubiquitin-dependent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139436,'Experimental MF/BP Leaf Term GOA',NULL,14394,NULL,'GO:0003691|F:double-stranded telomeric DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(139437,'Experimental MF/BP Leaf Term GOA',NULL,14396,NULL,'GO:0070979|P:protein K11-linked ubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139438,'Experimental MF/BP Leaf Term GOA',NULL,14398,NULL,'GO:0043162|P:ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139439,'Experimental MF/BP Leaf Term GOA',NULL,14401,NULL,'GO:0001164|F:RNA polymerase I CORE element sequence-specific DNA binding|IDA; GO:0001165|F:RNA polymerase I upstream control element sequence-specific DNA binding|IDA; GO:0097110|F:scaffold protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(139440,'Experimental MF/BP Leaf Term GOA',NULL,14403,NULL,'GO:0010997|F:anaphase-promoting complex binding|IPI; GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0031145|P:anaphase-promoting complex-dependent catabolic process|IDA; GO:0010458|P:exit from mitosis|IDA; GO:0010994|P:free ubiquitin chain polymerization|IDA; GO:1904668|P:positive regulation of ubiquitin protein ligase activity|IDA; GO:0070979|P:protein K11-linked ubiquitination|IDA; GO:0044314|P:protein K27-linked ubiquitination|IDA; GO:0035519|P:protein K29-linked ubiquitination|IDA; GO:0085020|P:protein K6-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139441,'Experimental MF/BP Leaf Term GOA',NULL,14410,NULL,'GO:0060048|P:cardiac muscle contraction|IMP; GO:1904753|P:negative regulation of vascular associated smooth muscle cell migration|IMP; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IMP; GO:0045214|P:sarcomere organization|IMP',NULL,NULL,NULL,NULL,NULL),(139442,'Experimental MF/BP Leaf Term GOA',NULL,14417,NULL,'GO:0019781|F:NEDD8 activating enzyme activity|IDA; GO:0046982|F:protein heterodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(139443,'Experimental MF/BP Leaf Term GOA',NULL,14418,NULL,'GO:0017166|F:vinculin binding|IPI; GO:0051496|P:positive regulation of stress fiber assembly|IDA',NULL,NULL,NULL,NULL,NULL),(139444,'Experimental MF/BP Leaf Term GOA',NULL,14419,NULL,'GO:0035727|F:lysophosphatidic acid binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0051016|P:barbed-end actin filament capping|IMP; GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA; GO:2000394|P:positive regulation of lamellipodium morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(139445,'Experimental MF/BP Leaf Term GOA',NULL,14423,NULL,'GO:0070889|P:platelet alpha granule organization|IMP',NULL,NULL,NULL,NULL,NULL),(139446,'Experimental MF/BP Leaf Term GOA',NULL,14425,NULL,'GO:0035987|P:endodermal cell differentiation|IDA; GO:0061302|P:smooth muscle cell-matrix adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(139447,'Experimental MF/BP Leaf Term GOA',NULL,14426,NULL,'GO:0050699|F:WW domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(139448,'Experimental MF/BP Leaf Term GOA',NULL,14428,NULL,'GO:0045292|P:mRNA cis splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(139449,'Experimental MF/BP Leaf Term GOA',NULL,14429,NULL,'GO:0071894|P:histone H2B conserved C-terminal lysine ubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(139450,'Experimental MF/BP Leaf Term GOA',NULL,14435,NULL,'GO:0045022|P:early endosome to late endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(139451,'Experimental MF/BP Leaf Term GOA',NULL,14437,NULL,'GO:0000045|P:autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139452,'Experimental MF/BP Leaf Term GOA',NULL,14439,NULL,'GO:0061317|P:canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment|IEP; GO:0062009|P:secondary palate development|IMP',NULL,NULL,NULL,NULL,NULL),(139453,'Experimental MF/BP Leaf Term GOA',NULL,14445,NULL,'GO:0033857|F:diphosphoinositol-pentakisphosphate kinase activity|IDA; GO:0000832|F:inositol hexakisphosphate 5-kinase activity|IDA; GO:0000827|F:inositol-1,3,4,5,6-pentakisphosphate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139454,'Experimental MF/BP Leaf Term GOA',NULL,14446,NULL,'GO:0017159|F:pantetheine hydrolase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139455,'Experimental MF/BP Leaf Term GOA',NULL,14447,NULL,'GO:0043162|P:ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139456,'Experimental MF/BP Leaf Term GOA',NULL,14448,NULL,'GO:0034058|P:endosomal vesicle fusion|IMP; GO:2000643|P:positive regulation of early endosome to late endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(139457,'Experimental MF/BP Leaf Term GOA',NULL,14449,NULL,'GO:0051117|F:ATPase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139458,'Experimental MF/BP Leaf Term GOA',NULL,14450,NULL,'GO:0097352|P:autophagosome maturation|IMP',NULL,NULL,NULL,NULL,NULL),(139459,'Experimental MF/BP Leaf Term GOA',NULL,14461,NULL,'GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0010314|F:phosphatidylinositol-5-phosphate binding|IDA; GO:1905394|F:retromer complex binding|IDA; GO:2000813|P:negative regulation of barbed-end actin filament capping|IDA',NULL,NULL,NULL,NULL,NULL),(139460,'Experimental MF/BP Leaf Term GOA',NULL,14465,NULL,'GO:0099041|P:vesicle tethering to Golgi|IDA',NULL,NULL,NULL,NULL,NULL),(139461,'Experimental MF/BP Leaf Term GOA',NULL,14470,NULL,'GO:0007099|P:centriole replication|IMP; GO:0021987|P:cerebral cortex development|IMP',NULL,NULL,NULL,NULL,NULL),(139462,'Experimental MF/BP Leaf Term GOA',NULL,14472,NULL,'GO:0071933|F:Arp2/3 complex binding|IDA; GO:0017049|F:GTP-Rho binding|IDA; GO:0006888|P:ER to Golgi vesicle-mediated transport|IDA; GO:0048041|P:focal adhesion assembly|IMP; GO:0097320|P:plasma membrane tubulation|IDA',NULL,NULL,NULL,NULL,NULL),(139463,'Experimental MF/BP Leaf Term GOA',NULL,14473,NULL,'GO:0050681|F:androgen receptor binding|IDA; GO:0030331|F:estrogen receptor binding|IDA; GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0000045|P:autophagosome assembly|IMP; GO:0048203|P:vesicle targeting, trans-Golgi to endosome|IDA',NULL,NULL,NULL,NULL,NULL),(139464,'Experimental MF/BP Leaf Term GOA',NULL,14474,NULL,'GO:0071425|P:hematopoietic stem cell proliferation|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(139465,'Experimental MF/BP Leaf Term GOA',NULL,14481,NULL,'GO:0035331|P:negative regulation of hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(139466,'Experimental MF/BP Leaf Term GOA',NULL,14482,NULL,'GO:0061133|F:endopeptidase activator activity|IDA; GO:2000562|P:negative regulation of CD4-positive, alpha-beta T cell proliferation|IMP; GO:2000565|P:negative regulation of CD8-positive, alpha-beta T cell proliferation|IMP; GO:0120158|P:positive regulation of collagen catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139467,'Experimental MF/BP Leaf Term GOA',NULL,14483,NULL,'GO:0017159|F:pantetheine hydrolase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139468,'Experimental MF/BP Leaf Term GOA',NULL,14485,NULL,'GO:1903774|P:positive regulation of viral budding via host ESCRT complex|IMP',NULL,NULL,NULL,NULL,NULL),(139469,'Experimental MF/BP Leaf Term GOA',NULL,14491,NULL,'GO:0034058|P:endosomal vesicle fusion|IMP',NULL,NULL,NULL,NULL,NULL),(139470,'Experimental MF/BP Leaf Term GOA',NULL,14493,NULL,'GO:1902118|F:calcidiol binding|IDA',NULL,NULL,NULL,NULL,NULL),(139471,'Experimental MF/BP Leaf Term GOA',NULL,14497,NULL,'GO:0043297|P:apical junction assembly|IDA; GO:0045199|P:maintenance of epithelial cell apical/basal polarity|IDA',NULL,NULL,NULL,NULL,NULL),(139472,'Experimental MF/BP Leaf Term GOA',NULL,14498,NULL,'GO:0005545|F:1-phosphatidylinositol binding|IDA; GO:0034141|P:positive regulation of toll-like receptor 3 signaling pathway|IMP; GO:0034145|P:positive regulation of toll-like receptor 4 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139473,'Experimental MF/BP Leaf Term GOA',NULL,14499,NULL,'GO:0000466|P:maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|IMP; GO:0000463|P:maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|IMP',NULL,NULL,NULL,NULL,NULL),(139474,'Experimental MF/BP Leaf Term GOA',NULL,14500,NULL,'GO:0019828|F:aspartic-type endopeptidase inhibitor activity|IDA; GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(139475,'Experimental MF/BP Leaf Term GOA',NULL,14504,NULL,'GO:0021871|P:forebrain regionalization|IEP; GO:0071425|P:hematopoietic stem cell proliferation|IDA; GO:0008584|P:male gonad development|IEP',NULL,NULL,NULL,NULL,NULL),(139476,'Experimental MF/BP Leaf Term GOA',NULL,14505,NULL,'GO:0030325|P:adrenal gland development|IEP; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IEP; GO:0008584|P:male gonad development|IMP; GO:0061180|P:mammary gland epithelium development|IEP; GO:2000180|P:negative regulation of androgen biosynthetic process|IDA; GO:0061369|P:negative regulation of testicular blood vessel morphogenesis|IMP; GO:2000225|P:negative regulation of testosterone biosynthetic process|IMP; GO:0061205|P:paramesonephric duct development|IMP; GO:0032349|P:positive regulation of aldosterone biosynthetic process|IDA; GO:0032967|P:positive regulation of collagen biosynthetic process|IDA; GO:2000066|P:positive regulation of cortisol biosynthetic process|IDA; GO:0061184|P:positive regulation of dermatome development|IDA',NULL,NULL,NULL,NULL,NULL),(139477,'Experimental MF/BP Leaf Term GOA',NULL,14507,NULL,'GO:0070914|P:UV-damage excision repair|IDA',NULL,NULL,NULL,NULL,NULL),(139478,'Experimental MF/BP Leaf Term GOA',NULL,14510,NULL,'GO:0000045|P:autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139479,'Experimental MF/BP Leaf Term GOA',NULL,14511,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(139480,'Experimental MF/BP Leaf Term GOA',NULL,14514,NULL,'GO:0034058|P:endosomal vesicle fusion|IMP',NULL,NULL,NULL,NULL,NULL),(139481,'Experimental MF/BP Leaf Term GOA',NULL,14518,NULL,'GO:0005484|F:SNAP receptor activity|IDA; GO:0050882|P:voluntary musculoskeletal movement|IMP',NULL,NULL,NULL,NULL,NULL),(139482,'Experimental MF/BP Leaf Term GOA',NULL,14519,NULL,'GO:0019869|F:chloride channel inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(139483,'Experimental MF/BP Leaf Term GOA',NULL,14522,NULL,'GO:0035721|P:intraciliary retrograde transport|IMP',NULL,NULL,NULL,NULL,NULL),(139484,'Experimental MF/BP Leaf Term GOA',NULL,14526,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0034314|P:Arp2/3 complex-mediated actin nucleation|IDA; GO:0022617|P:extracellular matrix disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(139485,'Experimental MF/BP Leaf Term GOA',NULL,14528,NULL,'GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(139486,'Experimental MF/BP Leaf Term GOA',NULL,14530,NULL,'GO:2000234|P:positive regulation of rRNA processing|IMP',NULL,NULL,NULL,NULL,NULL),(139487,'Experimental MF/BP Leaf Term GOA',NULL,14532,NULL,'GO:0043984|P:histone H4-K16 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(139488,'Experimental MF/BP Leaf Term GOA',NULL,14536,NULL,'GO:0019869|F:chloride channel inhibitor activity|IDA; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(139489,'Experimental MF/BP Leaf Term GOA',NULL,14540,NULL,'GO:0047057|F:vitamin-K-epoxide reductase (warfarin-sensitive) activity|IDA; GO:0017187|P:peptidyl-glutamic acid carboxylation|IMP',NULL,NULL,NULL,NULL,NULL),(139490,'Experimental MF/BP Leaf Term GOA',NULL,14541,NULL,'GO:0034437|F:glycoprotein transporter activity|IDA; GO:0034189|F:very-low-density lipoprotein particle binding|IDA; GO:0030229|F:very-low-density lipoprotein particle receptor activity|IDA; GO:0034436|P:glycoprotein transport|IDA; GO:0034447|P:very-low-density lipoprotein particle clearance|IDA',NULL,NULL,NULL,NULL,NULL),(139491,'Experimental MF/BP Leaf Term GOA',NULL,14546,NULL,'GO:2000397|P:positive regulation of ubiquitin-dependent endocytosis|IMP; GO:0043162|P:ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139492,'Experimental MF/BP Leaf Term GOA',NULL,14550,NULL,'GO:0090336|P:positive regulation of brown fat cell differentiation|IMP; GO:0070352|P:positive regulation of white fat cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(139493,'Experimental MF/BP Leaf Term GOA',NULL,14552,NULL,'GO:0051087|F:chaperone binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0007596|P:blood coagulation|IMP; GO:0030168|P:platelet activation|IDA',NULL,NULL,NULL,NULL,NULL),(139494,'Experimental MF/BP Leaf Term GOA',NULL,14556,NULL,'GO:0045503|F:dynein light chain binding|IPI',NULL,NULL,NULL,NULL,NULL),(139495,'Experimental MF/BP Leaf Term GOA',NULL,14557,NULL,'GO:0035721|P:intraciliary retrograde transport|IMP',NULL,NULL,NULL,NULL,NULL),(139496,'Experimental MF/BP Leaf Term GOA',NULL,14559,NULL,'GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(139497,'Experimental MF/BP Leaf Term GOA',NULL,14560,NULL,'GO:0050699|F:WW domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(139498,'Experimental MF/BP Leaf Term GOA',NULL,14562,NULL,'GO:0071300|P:cellular response to retinoic acid|IEP; GO:0021871|P:forebrain regionalization|IEP; GO:0061180|P:mammary gland epithelium development|IEP',NULL,NULL,NULL,NULL,NULL),(139499,'Experimental MF/BP Leaf Term GOA',NULL,14563,NULL,'GO:0005524|F:ATP binding|IDA; GO:0019869|F:chloride channel inhibitor activity|IDA; GO:1990869|P:cellular response to chemokine|IMP; GO:0033633|P:negative regulation of cell-cell adhesion mediated by integrin|IMP; GO:0034260|P:negative regulation of GTPase activity|IMP; GO:0034115|P:negative regulation of heterotypic cell-cell adhesion|IMP; GO:0010820|P:positive regulation of T cell chemotaxis|IMP; GO:0023016|P:signal transduction by trans-phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(139500,'Experimental MF/BP Leaf Term GOA',NULL,14564,NULL,'GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(139501,'Experimental MF/BP Leaf Term GOA',NULL,14566,NULL,'GO:1990254|F:keratin filament binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0097110|F:scaffold protein binding|IPI; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0071225|P:cellular response to muramyl dipeptide|IMP; GO:0032967|P:positive regulation of collagen biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(139502,'Experimental MF/BP Leaf Term GOA',NULL,14568,NULL,'GO:1905090|P:negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization|IMP',NULL,NULL,NULL,NULL,NULL),(139503,'Experimental MF/BP Leaf Term GOA',NULL,14570,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(139504,'Experimental MF/BP Leaf Term GOA',NULL,14571,NULL,'GO:0034058|P:endosomal vesicle fusion|IDA',NULL,NULL,NULL,NULL,NULL),(139505,'Experimental MF/BP Leaf Term GOA',NULL,14573,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0061952|P:midbody abscission|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1903542|P:negative regulation of exosomal secretion|IMP; GO:1903724|P:positive regulation of centriole elongation|IMP; GO:1903543|P:positive regulation of exosomal secretion|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP; GO:0043162|P:ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway|IMP; GO:0090611|P:ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway|IMP; GO:0039702|P:viral budding via host ESCRT complex|IGI',NULL,NULL,NULL,NULL,NULL),(139506,'Experimental MF/BP Leaf Term GOA',NULL,14575,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(139507,'Experimental MF/BP Leaf Term GOA',NULL,14578,NULL,'GO:0005545|F:1-phosphatidylinositol binding|IDA',NULL,NULL,NULL,NULL,NULL),(139508,'Experimental MF/BP Leaf Term GOA',NULL,14580,NULL,'GO:2000601|P:positive regulation of Arp2/3 complex-mediated actin nucleation|IMP; GO:0016601|P:Rac protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(139509,'Experimental MF/BP Leaf Term GOA',NULL,14582,NULL,'GO:1903526|P:negative regulation of membrane tubulation|IDA',NULL,NULL,NULL,NULL,NULL),(139510,'Experimental MF/BP Leaf Term GOA',NULL,14585,NULL,'GO:0050431|F:transforming growth factor beta binding|IDA',NULL,NULL,NULL,NULL,NULL),(139511,'Experimental MF/BP Leaf Term GOA',NULL,14609,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:1903892|P:negative regulation of ATF6-mediated unfolded protein response|IDA; GO:2000675|P:negative regulation of type B pancreatic cell apoptotic process|IMP; GO:0050821|P:protein stabilization|IDA; GO:0003091|P:renal water homeostasis|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(139512,'Experimental MF/BP Leaf Term GOA',NULL,14610,NULL,'GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(139513,'Experimental MF/BP Leaf Term GOA',NULL,14611,NULL,'GO:1904948|P:midbrain dopaminergic neuron differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(139514,'Experimental MF/BP Leaf Term GOA',NULL,14612,NULL,'GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0000045|P:autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139515,'Experimental MF/BP Leaf Term GOA',NULL,14616,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0007175|P:negative regulation of epidermal growth factor-activated receptor activity|IMP',NULL,NULL,NULL,NULL,NULL),(139516,'Experimental MF/BP Leaf Term GOA',NULL,14620,NULL,'GO:0017124|F:SH3 domain binding|IPI; GO:0051497|P:negative regulation of stress fiber assembly|IMP; GO:0010592|P:positive regulation of lamellipodium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139517,'Experimental MF/BP Leaf Term GOA',NULL,14625,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0035782|P:mature natural killer cell chemotaxis|IDA; GO:2000562|P:negative regulation of CD4-positive, alpha-beta T cell proliferation|IDA; GO:2000518|P:negative regulation of T-helper 1 cell activation|IDA; GO:2000566|P:positive regulation of CD8-positive, alpha-beta T cell proliferation|IDA; GO:2000513|P:positive regulation of granzyme A production|IDA; GO:0071663|P:positive regulation of granzyme B production|IDA; GO:2000503|P:positive regulation of natural killer cell chemotaxis|IDA; GO:0010820|P:positive regulation of T cell chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(139518,'Experimental MF/BP Leaf Term GOA',NULL,14626,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0031737|F:CX3C chemokine receptor binding|IDA; GO:0045237|F:CXCR1 chemokine receptor binding|IPI; GO:0033622|P:integrin activation|IMP; GO:0061518|P:microglial cell proliferation|IMP; GO:0110091|P:negative regulation of hippocampal neuron apoptotic process|IGI; GO:1904468|P:negative regulation of tumor necrosis factor secretion|IDA; GO:0051041|P:positive regulation of calcium-independent cell-cell adhesion|IDA; GO:1903721|P:positive regulation of I-kappaB phosphorylation|IGI; GO:0051897|P:positive regulation of protein kinase B signaling|IGI',NULL,NULL,NULL,NULL,NULL),(139519,'Experimental MF/BP Leaf Term GOA',NULL,14627,NULL,'GO:0051537|F:2 iron, 2 sulfur cluster binding|IDA; GO:0043546|F:molybdopterin cofactor binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0004854|F:xanthine dehydrogenase activity|IDA; GO:0004855|F:xanthine oxidase activity|IDA; GO:0051898|P:negative regulation of protein kinase B signaling|IDA; GO:1900747|P:negative regulation of vascular endothelial growth factor signaling pathway|IDA; GO:2001213|P:negative regulation of vasculogenesis|IDA; GO:1900745|P:positive regulation of p38MAPK cascade|IDA',NULL,NULL,NULL,NULL,NULL),(139520,'Experimental MF/BP Leaf Term GOA',NULL,14630,NULL,'GO:0051575|F:5\'-deoxyribose-5-phosphate lyase activity|IMP; GO:0030332|F:cyclin binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0071480|P:cellular response to gamma radiation|IDA; GO:0097680|P:double-strand break repair via classical nonhomologous end joining|IDA; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(139521,'Experimental MF/BP Leaf Term GOA',NULL,14631,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139522,'Experimental MF/BP Leaf Term GOA',NULL,14632,NULL,'GO:0008240|F:tripeptidyl-peptidase activity|IDA; GO:0045453|P:bone resorption|IMP; GO:0007399|P:nervous system development|IMP',NULL,NULL,NULL,NULL,NULL),(139523,'Experimental MF/BP Leaf Term GOA',NULL,14636,NULL,'GO:0004503|F:monophenol monooxygenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139524,'Experimental MF/BP Leaf Term GOA',NULL,14639,NULL,'GO:0004839|F:ubiquitin activating enzyme activity|IDA',NULL,NULL,NULL,NULL,NULL),(139525,'Experimental MF/BP Leaf Term GOA',NULL,14641,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0051865|P:protein autoubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139526,'Experimental MF/BP Leaf Term GOA',NULL,14642,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0034450|F:ubiquitin-ubiquitin ligase activity|IDA; GO:0035458|P:cellular response to interferon-beta|IMP; GO:0010994|P:free ubiquitin chain polymerization|IDA; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IDA; GO:0060340|P:positive regulation of type I interferon-mediated signaling pathway|IMP; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139527,'Experimental MF/BP Leaf Term GOA',NULL,14643,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0035458|P:cellular response to interferon-beta|IMP; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139528,'Experimental MF/BP Leaf Term GOA',NULL,14644,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139529,'Experimental MF/BP Leaf Term GOA',NULL,14645,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139530,'Experimental MF/BP Leaf Term GOA',NULL,14657,NULL,'GO:0004176|F:ATP-dependent peptidase activity|IDA; GO:0035694|P:mitochondrial protein catabolic process|IMP; GO:0034214|P:protein hexamerization|IDA',NULL,NULL,NULL,NULL,NULL),(139531,'Experimental MF/BP Leaf Term GOA',NULL,14685,NULL,'GO:1900246|P:positive regulation of RIG-I signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139532,'Experimental MF/BP Leaf Term GOA',NULL,14688,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139533,'Experimental MF/BP Leaf Term GOA',NULL,14693,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139534,'Experimental MF/BP Leaf Term GOA',NULL,14696,NULL,'GO:0006398|P:mRNA 3\'-end processing by stem-loop binding and cleavage|IDA',NULL,NULL,NULL,NULL,NULL),(139535,'Experimental MF/BP Leaf Term GOA',NULL,14698,NULL,'GO:0031624|F:ubiquitin conjugating enzyme binding|IPI',NULL,NULL,NULL,NULL,NULL),(139536,'Experimental MF/BP Leaf Term GOA',NULL,14701,NULL,'GO:0070301|P:cellular response to hydrogen peroxide|IDA',NULL,NULL,NULL,NULL,NULL),(139537,'Experimental MF/BP Leaf Term GOA',NULL,14711,NULL,'GO:0005545|F:1-phosphatidylinositol binding|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(139538,'Experimental MF/BP Leaf Term GOA',NULL,14713,NULL,'GO:0050681|F:androgen receptor binding|IDA; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IMP; GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(139539,'Experimental MF/BP Leaf Term GOA',NULL,14724,NULL,'GO:0050682|F:AF-2 domain binding|IMP',NULL,NULL,NULL,NULL,NULL),(139540,'Experimental MF/BP Leaf Term GOA',NULL,14730,NULL,'GO:1990247|F:N6-methyladenosine-containing RNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(139541,'Experimental MF/BP Leaf Term GOA',NULL,14732,NULL,'GO:0008327|F:methyl-CpG binding|IDA',NULL,NULL,NULL,NULL,NULL),(139542,'Experimental MF/BP Leaf Term GOA',NULL,14734,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0008327|F:methyl-CpG binding|IDA; GO:0010428|F:methyl-CpNpG binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139543,'Experimental MF/BP Leaf Term GOA',NULL,14740,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0071910|P:determination of liver left/right asymmetry|IMP; GO:0035469|P:determination of pancreatic left/right asymmetry|IMP; GO:0001947|P:heart looping|IMP',NULL,NULL,NULL,NULL,NULL),(139544,'Experimental MF/BP Leaf Term GOA',NULL,14741,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139545,'Experimental MF/BP Leaf Term GOA',NULL,14745,NULL,'GO:0071787|P:endoplasmic reticulum tubular network formation|IMP',NULL,NULL,NULL,NULL,NULL),(139546,'Experimental MF/BP Leaf Term GOA',NULL,14748,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139547,'Experimental MF/BP Leaf Term GOA',NULL,14751,NULL,'GO:0035198|F:miRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(139548,'Experimental MF/BP Leaf Term GOA',NULL,14754,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0001162|F:RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(139549,'Experimental MF/BP Leaf Term GOA',NULL,14769,NULL,'GO:1904385|P:cellular response to angiotensin|IDA; GO:2000773|P:negative regulation of cellular senescence|IDA',NULL,NULL,NULL,NULL,NULL),(139550,'Experimental MF/BP Leaf Term GOA',NULL,14774,NULL,'GO:2000774|P:positive regulation of cellular senescence|IDA',NULL,NULL,NULL,NULL,NULL),(139551,'Experimental MF/BP Leaf Term GOA',NULL,14782,NULL,'GO:0007399|P:nervous system development|IDA',NULL,NULL,NULL,NULL,NULL),(139552,'Experimental MF/BP Leaf Term GOA',NULL,14805,NULL,'GO:0007420|P:brain development|IDA',NULL,NULL,NULL,NULL,NULL),(139553,'Experimental MF/BP Leaf Term GOA',NULL,14819,NULL,'GO:0030331|F:estrogen receptor binding|IDA; GO:0033147|P:negative regulation of intracellular estrogen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139554,'Experimental MF/BP Leaf Term GOA',NULL,14823,NULL,'GO:0000070|P:mitotic sister chromatid segregation|IMP; GO:0090307|P:mitotic spindle assembly|IDA; GO:0007094|P:mitotic spindle assembly checkpoint|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(139555,'Experimental MF/BP Leaf Term GOA',NULL,14835,NULL,'GO:0036310|F:annealing helicase activity|IDA; GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA; GO:0036292|P:DNA rewinding|IDA; GO:0048478|P:replication fork protection|IDA',NULL,NULL,NULL,NULL,NULL),(139556,'Experimental MF/BP Leaf Term GOA',NULL,14841,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(139557,'Experimental MF/BP Leaf Term GOA',NULL,14843,NULL,'GO:0070742|F:C2H2 zinc finger domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(139558,'Experimental MF/BP Leaf Term GOA',NULL,14844,NULL,'GO:0006882|P:cellular zinc ion homeostasis|IDA; GO:0006824|P:cobalt ion transport|IDA',NULL,NULL,NULL,NULL,NULL),(139559,'Experimental MF/BP Leaf Term GOA',NULL,14845,NULL,'GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:0043149|P:stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139560,'Experimental MF/BP Leaf Term GOA',NULL,14846,NULL,'GO:0002039|F:p53 binding|IPI; GO:1902166|P:negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP; GO:1902164|P:positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IMP',NULL,NULL,NULL,NULL,NULL),(139561,'Experimental MF/BP Leaf Term GOA',NULL,14850,NULL,'GO:0070628|F:proteasome binding|IDA; GO:0035617|P:stress granule disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(139562,'Experimental MF/BP Leaf Term GOA',NULL,14852,NULL,'GO:0035198|F:miRNA binding|IDA; GO:0061158|P:3\'-UTR-mediated mRNA destabilization|IDA; GO:1990869|P:cellular response to chemokine|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0044828|P:negative regulation by host of viral genome replication|IDA; GO:0045019|P:negative regulation of nitric oxide biosynthetic process|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IDA; GO:2000627|P:positive regulation of miRNA catabolic process|IDA; GO:1900745|P:positive regulation of p38MAPK cascade|IDA; GO:0042307|P:positive regulation of protein import into nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(139563,'Experimental MF/BP Leaf Term GOA',NULL,14855,NULL,'GO:0018230|P:peptidyl-L-cysteine S-palmitoylation|IDA',NULL,NULL,NULL,NULL,NULL),(139564,'Experimental MF/BP Leaf Term GOA',NULL,14861,NULL,'GO:0016973|P:poly(A)+ mRNA export from nucleus|IMP',NULL,NULL,NULL,NULL,NULL),(139565,'Experimental MF/BP Leaf Term GOA',NULL,14865,NULL,'GO:0070245|P:positive regulation of thymocyte apoptotic process|IMP; GO:0045945|P:positive regulation of transcription by RNA polymerase III|IMP; GO:0042795|P:snRNA transcription by RNA polymerase II|IMP; GO:0042796|P:snRNA transcription by RNA polymerase III|IMP; GO:0043029|P:T cell homeostasis|IMP',NULL,NULL,NULL,NULL,NULL),(139566,'Experimental MF/BP Leaf Term GOA',NULL,14875,NULL,'GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0071157|P:negative regulation of cell cycle arrest|IMP; GO:0090073|P:positive regulation of protein homodimerization activity|IDA; GO:0043497|P:regulation of protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139567,'Experimental MF/BP Leaf Term GOA',NULL,14898,NULL,'GO:0090557|P:establishment of endothelial intestinal barrier|IMP',NULL,NULL,NULL,NULL,NULL),(139568,'Experimental MF/BP Leaf Term GOA',NULL,14903,NULL,'GO:1990247|F:N6-methyladenosine-containing RNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(139569,'Experimental MF/BP Leaf Term GOA',NULL,14913,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139570,'Experimental MF/BP Leaf Term GOA',NULL,14915,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139571,'Experimental MF/BP Leaf Term GOA',NULL,14923,NULL,'GO:0071333|P:cellular response to glucose stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(139572,'Experimental MF/BP Leaf Term GOA',NULL,14927,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0043922|P:negative regulation by host of viral transcription|IMP; GO:0043923|P:positive regulation by host of viral transcription|IMP',NULL,NULL,NULL,NULL,NULL),(139573,'Experimental MF/BP Leaf Term GOA',NULL,14931,NULL,'GO:0044791|P:positive regulation by host of viral release from host cell|IMP',NULL,NULL,NULL,NULL,NULL),(139574,'Experimental MF/BP Leaf Term GOA',NULL,14936,NULL,'GO:0032190|F:acrosin binding|IPI',NULL,NULL,NULL,NULL,NULL),(139575,'Experimental MF/BP Leaf Term GOA',NULL,14947,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139576,'Experimental MF/BP Leaf Term GOA',NULL,14949,NULL,'GO:0032190|F:acrosin binding|IPI; GO:0060478|P:acrosomal vesicle exocytosis|IMP; GO:2000360|P:negative regulation of binding of sperm to zona pellucida|IDA',NULL,NULL,NULL,NULL,NULL),(139577,'Experimental MF/BP Leaf Term GOA',NULL,14963,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139578,'Experimental MF/BP Leaf Term GOA',NULL,14969,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(139579,'Experimental MF/BP Leaf Term GOA',NULL,14972,NULL,'GO:0007250|P:activation of NF-kappaB-inducing kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139580,'Experimental MF/BP Leaf Term GOA',NULL,14981,NULL,'GO:0070315|P:G1 to G0 transition involved in cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(139581,'Experimental MF/BP Leaf Term GOA',NULL,14990,NULL,'GO:0032119|P:sequestering of zinc ion|IDA',NULL,NULL,NULL,NULL,NULL),(139582,'Experimental MF/BP Leaf Term GOA',NULL,14995,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(139583,'Experimental MF/BP Leaf Term GOA',NULL,15001,NULL,'GO:0001784|F:phosphotyrosine residue binding|IMP; GO:0045059|P:positive thymic T cell selection|IDA',NULL,NULL,NULL,NULL,NULL),(139584,'Experimental MF/BP Leaf Term GOA',NULL,15002,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139585,'Experimental MF/BP Leaf Term GOA',NULL,15010,NULL,'GO:0071356|P:cellular response to tumor necrosis factor|IMP',NULL,NULL,NULL,NULL,NULL),(139586,'Experimental MF/BP Leaf Term GOA',NULL,15014,NULL,'GO:0005545|F:1-phosphatidylinositol binding|IDA',NULL,NULL,NULL,NULL,NULL),(139587,'Experimental MF/BP Leaf Term GOA',NULL,15017,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(139588,'Experimental MF/BP Leaf Term GOA',NULL,15027,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139589,'Experimental MF/BP Leaf Term GOA',NULL,15035,NULL,'GO:0071294|P:cellular response to zinc ion|IMP; GO:0042254|P:ribosome biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(139590,'Experimental MF/BP Leaf Term GOA',NULL,15037,NULL,'GO:0007420|P:brain development|IMP; GO:0080182|P:histone H3-K4 trimethylation|IMP',NULL,NULL,NULL,NULL,NULL),(139591,'Experimental MF/BP Leaf Term GOA',NULL,15043,NULL,'GO:0070895|P:negative regulation of transposon integration|IDA',NULL,NULL,NULL,NULL,NULL),(139592,'Experimental MF/BP Leaf Term GOA',NULL,15070,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139593,'Experimental MF/BP Leaf Term GOA',NULL,15076,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0042789|P:mRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(139594,'Experimental MF/BP Leaf Term GOA',NULL,15086,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139595,'Experimental MF/BP Leaf Term GOA',NULL,15103,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139596,'Experimental MF/BP Leaf Term GOA',NULL,15108,NULL,'GO:0005049|F:nuclear export signal receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(139597,'Experimental MF/BP Leaf Term GOA',NULL,15109,NULL,'GO:0035331|P:negative regulation of hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(139598,'Experimental MF/BP Leaf Term GOA',NULL,15113,NULL,'GO:0070208|P:protein heterotrimerization|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(139599,'Experimental MF/BP Leaf Term GOA',NULL,15114,NULL,'GO:0005109|F:frizzled binding|IPI; GO:1904954|P:canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation|IDA; GO:0033278|P:cell proliferation in midbrain|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IEP; GO:0061180|P:mammary gland epithelium development|IEP; GO:1904948|P:midbrain dopaminergic neuron differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(139600,'Experimental MF/BP Leaf Term GOA',NULL,15115,NULL,'GO:0005109|F:frizzled binding|IPI; GO:0005115|F:receptor tyrosine kinase-like orphan receptor binding|IPI; GO:0007257|P:activation of JUN kinase activity|IDA; GO:0032148|P:activation of protein kinase B activity|IDA; GO:0071277|P:cellular response to calcium ion|IEP; GO:0071346|P:cellular response to interferon-gamma|IEP; GO:0071222|P:cellular response to lipopolysaccharide|IEP; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IEP; GO:0060324|P:face development|IMP; GO:0071425|P:hematopoietic stem cell proliferation|IDA; GO:0008584|P:male gonad development|IEP; GO:0002741|P:positive regulation of cytokine secretion involved in immune response|IMP; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IMP; GO:0060907|P:positive regulation of macrophage cytokine production|IMP; GO:1900020|P:positive regulation of protein kinase C activity|IMP; GO:0090037|P:positive regulation of protein kinase C signaling|IMP; GO:0010820|P:positive regulation of T cell chemotaxis|IMP; GO:0060340|P:positive regulation of type I interferon-mediated signaling pathway|IDA; GO:0062009|P:secondary palate development|IMP; GO:0007223|P:Wnt signaling pathway, calcium modulating pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139601,'Experimental MF/BP Leaf Term GOA',NULL,15116,NULL,'GO:0039706|F:co-receptor binding|IPI; GO:0061317|P:canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment|IDA; GO:0003136|P:negative regulation of heart induction by canonical Wnt signaling pathway|IDA; GO:0061184|P:positive regulation of dermatome development|IDA; GO:0062009|P:secondary palate development|IMP',NULL,NULL,NULL,NULL,NULL),(139602,'Experimental MF/BP Leaf Term GOA',NULL,15117,NULL,'GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139603,'Experimental MF/BP Leaf Term GOA',NULL,15118,NULL,'GO:0005049|F:nuclear export signal receptor activity|IMP; GO:0035281|P:pre-miRNA export from nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(139604,'Experimental MF/BP Leaf Term GOA',NULL,15121,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071480|P:cellular response to gamma radiation|IDA; GO:1904430|P:negative regulation of t-circle formation|IMP; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(139605,'Experimental MF/BP Leaf Term GOA',NULL,15123,NULL,'GO:0001784|F:phosphotyrosine residue binding|IPI',NULL,NULL,NULL,NULL,NULL),(139606,'Experimental MF/BP Leaf Term GOA',NULL,15124,NULL,'GO:0051117|F:ATPase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139607,'Experimental MF/BP Leaf Term GOA',NULL,15125,NULL,'GO:0008131|F:primary amine oxidase activity|IDA; GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IGI; GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IDA; GO:0050901|P:leukocyte tethering or rolling|IDA; GO:0022614|P:membrane to membrane docking|IEP',NULL,NULL,NULL,NULL,NULL),(139608,'Experimental MF/BP Leaf Term GOA',NULL,15127,NULL,'GO:0007420|P:brain development|IMP',NULL,NULL,NULL,NULL,NULL),(139609,'Experimental MF/BP Leaf Term GOA',NULL,15134,NULL,'GO:0001968|F:fibronectin binding|IDA; GO:0008083|F:growth factor activity|IDA; GO:0008201|F:heparin binding|IDA; GO:0038191|F:neuropilin binding|IPI; GO:0005161|F:platelet-derived growth factor receptor binding|IPI; GO:0046982|F:protein heterodimerization activity|IDA; GO:0043183|F:vascular endothelial growth factor receptor 1 binding|IPI; GO:0043184|F:vascular endothelial growth factor receptor 2 binding|IPI; GO:0002575|P:basophil chemotaxis|IDA; GO:0002042|P:cell migration involved in sprouting angiogenesis|IDA; GO:0071456|P:cellular response to hypoxia|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IDA; GO:0097533|P:cellular stress response to acid chemical|IDA; GO:0050930|P:induction of positive chemotaxis|IDA; GO:0030224|P:monocyte differentiation|IDA; GO:1903589|P:positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IGI; GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IDA; GO:0038091|P:positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway|IDA; GO:0032793|P:positive regulation of CREB transcription factor activity|IDA; GO:0038033|P:positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway|IDA; GO:0051894|P:positive regulation of focal adhesion assembly|IDA; GO:1901727|P:positive regulation of histone deacetylase activity|IDA; GO:0060754|P:positive regulation of mast cell chemotaxis|IDA; GO:1900745|P:positive regulation of p38MAPK cascade|IDA; GO:1900086|P:positive regulation of peptidyl-tyrosine autophosphorylation|IDA; GO:0090037|P:positive regulation of protein kinase C signaling|IDA; GO:1903572|P:positive regulation of protein kinase D signaling|IDA; GO:1902966|P:positive regulation of protein localization to early endosome|IDA; GO:0061419|P:positive regulation of transcription from RNA polymerase II promoter in response to hypoxia|IMP; GO:0030949|P:positive regulation of vascular endothelial growth factor receptor signaling pathway|IDA; GO:0043117|P:positive regulation of vascular permeability|IDA',NULL,NULL,NULL,NULL,NULL),(139610,'Experimental MF/BP Leaf Term GOA',NULL,15135,NULL,'GO:0050930|P:induction of positive chemotaxis|IDA; GO:0060754|P:positive regulation of mast cell chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(139611,'Experimental MF/BP Leaf Term GOA',NULL,15139,NULL,'GO:0036332|F:placental growth factor-activated receptor activity|IDA; GO:0036326|F:VEGF-A-activated receptor activity|IDA; GO:0036327|F:VEGF-B-activated receptor activity|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IDA; GO:0002548|P:monocyte chemotaxis|IDA; GO:1905563|P:negative regulation of vascular endothelial cell proliferation|IGI; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP; GO:0030949|P:positive regulation of vascular endothelial growth factor receptor signaling pathway|IDA; GO:0036323|P:vascular endothelial growth factor receptor-1 signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139612,'Experimental MF/BP Leaf Term GOA',NULL,15140,NULL,'GO:0038085|F:vascular endothelial growth factor binding|IPI; GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IMP; GO:1904881|P:cellular response to hydrogen sulfide|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IMP; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IDA; GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IMP; GO:0038033|P:positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway|IDA; GO:0051894|P:positive regulation of focal adhesion assembly|IDA; GO:0051901|P:positive regulation of mitochondrial depolarization|IGI; GO:0090141|P:positive regulation of mitochondrial fission|IGI; GO:0051770|P:positive regulation of nitric-oxide synthase biosynthetic process|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0043491|P:protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(139613,'Experimental MF/BP Leaf Term GOA',NULL,15142,NULL,'GO:0015319|F:sodium:inorganic phosphate symporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(139614,'Experimental MF/BP Leaf Term GOA',NULL,15143,NULL,'GO:0017025|F:TBP-class protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(139615,'Experimental MF/BP Leaf Term GOA',NULL,15157,NULL,'GO:0042953|P:lipoprotein transport|IDA',NULL,NULL,NULL,NULL,NULL),(139616,'Experimental MF/BP Leaf Term GOA',NULL,15161,NULL,'GO:0070979|P:protein K11-linked ubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139617,'Experimental MF/BP Leaf Term GOA',NULL,15162,NULL,'GO:1902527|P:positive regulation of protein monoubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(139618,'Experimental MF/BP Leaf Term GOA',NULL,15163,NULL,'GO:0008626|P:granzyme-mediated apoptotic signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139619,'Experimental MF/BP Leaf Term GOA',NULL,15164,NULL,'GO:0045116|P:protein neddylation|IDA',NULL,NULL,NULL,NULL,NULL),(139620,'Experimental MF/BP Leaf Term GOA',NULL,15166,NULL,'GO:0061631|F:ubiquitin conjugating enzyme activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051865|P:protein autoubiquitination|IDA; GO:0070979|P:protein K11-linked ubiquitination|IDA; GO:0044314|P:protein K27-linked ubiquitination|IDA; GO:0035519|P:protein K29-linked ubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA; GO:0085020|P:protein K6-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139621,'Experimental MF/BP Leaf Term GOA',NULL,15167,NULL,'GO:0070628|F:proteasome binding|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(139622,'Experimental MF/BP Leaf Term GOA',NULL,15169,NULL,'GO:0051117|F:ATPase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139623,'Experimental MF/BP Leaf Term GOA',NULL,15171,NULL,'GO:0051117|F:ATPase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139624,'Experimental MF/BP Leaf Term GOA',NULL,15172,NULL,'GO:0001784|F:phosphotyrosine residue binding|IPI',NULL,NULL,NULL,NULL,NULL),(139625,'Experimental MF/BP Leaf Term GOA',NULL,15173,NULL,'GO:0007339|P:binding of sperm to zona pellucida|IMP',NULL,NULL,NULL,NULL,NULL),(139626,'Experimental MF/BP Leaf Term GOA',NULL,15178,NULL,'GO:0043185|F:vascular endothelial growth factor receptor 3 binding|IPI; GO:0050930|P:induction of positive chemotaxis|IDA; GO:0060754|P:positive regulation of mast cell chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(139627,'Experimental MF/BP Leaf Term GOA',NULL,15182,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139628,'Experimental MF/BP Leaf Term GOA',NULL,15185,NULL,'GO:0098703|P:calcium ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(139629,'Experimental MF/BP Leaf Term GOA',NULL,15186,NULL,'GO:0017005|F:3\'-tyrosyl-DNA phosphodiesterase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139630,'Experimental MF/BP Leaf Term GOA',NULL,15187,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071228|P:cellular response to tumor cell|IDA',NULL,NULL,NULL,NULL,NULL),(139631,'Experimental MF/BP Leaf Term GOA',NULL,15189,NULL,'GO:0048023|P:positive regulation of melanin biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(139632,'Experimental MF/BP Leaf Term GOA',NULL,15190,NULL,'GO:0030628|F:pre-mRNA 3\'-splice site binding|IDA',NULL,NULL,NULL,NULL,NULL),(139633,'Experimental MF/BP Leaf Term GOA',NULL,15192,NULL,'GO:0071566|F:UFM1 activating enzyme activity|IDA; GO:1990592|P:protein K69-linked ufmylation|IDA',NULL,NULL,NULL,NULL,NULL),(139634,'Experimental MF/BP Leaf Term GOA',NULL,15194,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0050852|P:T cell receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139635,'Experimental MF/BP Leaf Term GOA',NULL,15196,NULL,'GO:0070628|F:proteasome binding|IDA; GO:0070842|P:aggresome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(139636,'Experimental MF/BP Leaf Term GOA',NULL,15198,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051865|P:protein autoubiquitination|IDA; GO:0070979|P:protein K11-linked ubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(139637,'Experimental MF/BP Leaf Term GOA',NULL,15199,NULL,'GO:0031694|F:alpha-2A adrenergic receptor binding|IPI; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139638,'Experimental MF/BP Leaf Term GOA',NULL,15200,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(139639,'Experimental MF/BP Leaf Term GOA',NULL,15204,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0035526|P:retrograde transport, plasma membrane to Golgi|IMP; GO:0019068|P:virion assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139640,'Experimental MF/BP Leaf Term GOA',NULL,15205,NULL,'GO:0070410|F:co-SMAD binding|IPI; GO:1990380|F:Lys48-specific deubiquitinase activity|IDA; GO:1901537|P:positive regulation of DNA demethylation|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(139641,'Experimental MF/BP Leaf Term GOA',NULL,15207,NULL,'GO:0070140|F:SUMO-specific isopeptidase activity|IDA; GO:0030576|P:Cajal body organization|IMP; GO:0016926|P:protein desumoylation|IDA',NULL,NULL,NULL,NULL,NULL),(139642,'Experimental MF/BP Leaf Term GOA',NULL,15209,NULL,'GO:0070403|F:NAD+ binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0048040|F:UDP-glucuronate decarboxylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139643,'Experimental MF/BP Leaf Term GOA',NULL,15211,NULL,'GO:0046961|F:proton-transporting ATPase activity, rotational mechanism|IGI',NULL,NULL,NULL,NULL,NULL),(139644,'Experimental MF/BP Leaf Term GOA',NULL,15214,NULL,'GO:0043308|P:eosinophil degranulation|IMP',NULL,NULL,NULL,NULL,NULL),(139645,'Experimental MF/BP Leaf Term GOA',NULL,15216,NULL,'GO:0033149|F:FFAT motif binding|IMP; GO:0046982|F:protein heterodimerization activity|IPI; GO:0090114|P:COPII-coated vesicle budding|IMP; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0044828|P:negative regulation by host of viral genome replication|IDA; GO:0044829|P:positive regulation by host of viral genome replication|IDA; GO:0044791|P:positive regulation by host of viral release from host cell|IDA',NULL,NULL,NULL,NULL,NULL),(139646,'Experimental MF/BP Leaf Term GOA',NULL,15218,NULL,'GO:0005522|F:profilin binding|IPI',NULL,NULL,NULL,NULL,NULL),(139647,'Experimental MF/BP Leaf Term GOA',NULL,15220,NULL,'GO:0010637|P:negative regulation of mitochondrial fusion|IMP',NULL,NULL,NULL,NULL,NULL),(139648,'Experimental MF/BP Leaf Term GOA',NULL,15221,NULL,'GO:1901491|P:negative regulation of lymphangiogenesis|IGI',NULL,NULL,NULL,NULL,NULL),(139649,'Experimental MF/BP Leaf Term GOA',NULL,15226,NULL,'GO:0035198|F:miRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(139650,'Experimental MF/BP Leaf Term GOA',NULL,15230,NULL,'GO:0002039|F:p53 binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139651,'Experimental MF/BP Leaf Term GOA',NULL,15243,NULL,'GO:0005109|F:frizzled binding|IPI; GO:0038018|P:Wnt receptor catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(139652,'Experimental MF/BP Leaf Term GOA',NULL,15250,NULL,'GO:0070742|F:C2H2 zinc finger domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(139653,'Experimental MF/BP Leaf Term GOA',NULL,15254,NULL,'GO:0007198|P:adenylate cyclase-inhibiting serotonin receptor signaling pathway|IDA; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(139654,'Experimental MF/BP Leaf Term GOA',NULL,15255,NULL,'GO:0047844|F:deoxycytidine deaminase activity|IMP',NULL,NULL,NULL,NULL,NULL),(139655,'Experimental MF/BP Leaf Term GOA',NULL,15258,NULL,'GO:0005524|F:ATP binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0042760|P:very long-chain fatty acid catabolic process|IGI',NULL,NULL,NULL,NULL,NULL),(139656,'Experimental MF/BP Leaf Term GOA',NULL,15259,NULL,'GO:0070991|F:medium-chain-acyl-CoA dehydrogenase activity|IDA; GO:0017099|F:very-long-chain-acyl-CoA dehydrogenase activity|IDA; GO:0033539|P:fatty acid beta-oxidation using acyl-CoA dehydrogenase|IDA',NULL,NULL,NULL,NULL,NULL),(139657,'Experimental MF/BP Leaf Term GOA',NULL,15260,NULL,'GO:0071633|F:dihydroceramidase activity|IDA; GO:0090285|P:negative regulation of protein glycosylation in Golgi|IMP; GO:0046512|P:sphingosine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139658,'Experimental MF/BP Leaf Term GOA',NULL,15262,NULL,'GO:0001760|F:aminocarboxymuconate-semialdehyde decarboxylase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:1904985|P:negative regulation of quinolinate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139659,'Experimental MF/BP Leaf Term GOA',NULL,15263,NULL,'GO:0070991|F:medium-chain-acyl-CoA dehydrogenase activity|IDA; GO:0045329|P:carnitine biosynthetic process|IMP; GO:0019254|P:carnitine metabolic process, CoA-linked|IMP; GO:0033539|P:fatty acid beta-oxidation using acyl-CoA dehydrogenase|IDA; GO:0051793|P:medium-chain fatty acid catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139660,'Experimental MF/BP Leaf Term GOA',NULL,15264,NULL,'GO:0035095|P:behavioral response to nicotine|IMP',NULL,NULL,NULL,NULL,NULL),(139661,'Experimental MF/BP Leaf Term GOA',NULL,15266,NULL,'GO:0048630|P:skeletal muscle tissue growth|IMP',NULL,NULL,NULL,NULL,NULL),(139662,'Experimental MF/BP Leaf Term GOA',NULL,15267,NULL,'GO:0042166|F:acetylcholine binding|IDA; GO:0022848|F:acetylcholine-gated cation-selective channel activity|IDA; GO:0001540|F:amyloid-beta binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0015643|F:toxic substance binding|IDA; GO:1902430|P:negative regulation of amyloid-beta formation|IGI',NULL,NULL,NULL,NULL,NULL),(139663,'Experimental MF/BP Leaf Term GOA',NULL,15269,NULL,'GO:0016290|F:palmitoyl-CoA hydrolase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139664,'Experimental MF/BP Leaf Term GOA',NULL,15271,NULL,'GO:0030240|P:skeletal muscle thin filament assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139665,'Experimental MF/BP Leaf Term GOA',NULL,15272,NULL,'GO:0048185|F:activin binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0050431|F:transforming growth factor beta binding|IDA; GO:0003289|P:atrial septum primum morphogenesis|IMP; GO:0071773|P:cellular response to BMP stimulus|IMP; GO:0061445|P:endocardial cushion cell fate commitment|IMP; GO:0000082|P:G1/S transition of mitotic cell cycle|IMP; GO:0003183|P:mitral valve morphogenesis|IMP; GO:0060389|P:pathway-restricted SMAD protein phosphorylation|IDA; GO:2000017|P:positive regulation of determination of dorsal identity|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(139666,'Experimental MF/BP Leaf Term GOA',NULL,15274,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(139667,'Experimental MF/BP Leaf Term GOA',NULL,15275,NULL,'GO:0004024|F:alcohol dehydrogenase activity, zinc-dependent|IDA',NULL,NULL,NULL,NULL,NULL),(139668,'Experimental MF/BP Leaf Term GOA',NULL,15276,NULL,'GO:0004024|F:alcohol dehydrogenase activity, zinc-dependent|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0006069|P:ethanol oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(139669,'Experimental MF/BP Leaf Term GOA',NULL,15277,NULL,'GO:0001540|F:amyloid-beta binding|IDA; GO:0004941|F:beta2-adrenergic receptor activity|IDA; GO:0051380|F:norepinephrine binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0007190|P:activation of adenylate cyclase activity|IDA; GO:1904646|P:cellular response to amyloid-beta|IGI; GO:0002032|P:desensitization of G protein-coupled receptor signaling pathway by arrestin|IDA; GO:2000969|P:positive regulation of AMPA receptor activity|IGI; GO:1901098|P:positive regulation of autophagosome maturation|IDA; GO:1904504|P:positive regulation of lipophagy|IDA; GO:0010739|P:positive regulation of protein kinase A signaling|IGI',NULL,NULL,NULL,NULL,NULL),(139670,'Experimental MF/BP Leaf Term GOA',NULL,15278,NULL,'GO:0051901|P:positive regulation of mitochondrial depolarization|IDA; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(139671,'Experimental MF/BP Leaf Term GOA',NULL,15279,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(139672,'Experimental MF/BP Leaf Term GOA',NULL,15280,NULL,'GO:0005138|F:interleukin-6 receptor binding|IPI; GO:0005112|F:Notch binding|IDA; GO:0030165|F:PDZ domain binding|IPI; GO:0071403|P:cellular response to high density lipoprotein particle stimulus|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IMP; GO:0007220|P:Notch receptor processing|IDA; GO:0051088|P:PMA-inducible membrane protein ectodomain proteolysis|IDA; GO:0045741|P:positive regulation of epidermal growth factor-activated receptor activity|IDA; GO:0010820|P:positive regulation of T cell chemotaxis|IMP; GO:1903265|P:positive regulation of tumor necrosis factor-mediated signaling pathway|IMP; GO:1905564|P:positive regulation of vascular endothelial cell proliferation|IDA; GO:0035624|P:receptor transactivation|IMP; GO:0035313|P:wound healing, spreading of epidermal cells|IEP',NULL,NULL,NULL,NULL,NULL),(139673,'Experimental MF/BP Leaf Term GOA',NULL,15282,NULL,'GO:0042605|F:peptide antigen binding|IDA; GO:0002486|P:antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent|IDA',NULL,NULL,NULL,NULL,NULL),(139674,'Experimental MF/BP Leaf Term GOA',NULL,15285,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL);
INSERT INTO `tdl_info` VALUES (139675,'Experimental MF/BP Leaf Term GOA',NULL,15286,NULL,'GO:0004126|F:cytidine deaminase activity|IDA; GO:0016554|P:cytidine to uridine editing|IDA',NULL,NULL,NULL,NULL,NULL),(139676,'Experimental MF/BP Leaf Term GOA',NULL,15288,NULL,'GO:0008474|F:palmitoyl-(protein) hydrolase activity|IMP',NULL,NULL,NULL,NULL,NULL),(139677,'Experimental MF/BP Leaf Term GOA',NULL,15296,NULL,'GO:0035612|F:AP-2 adaptor complex binding|IDA; GO:0005112|F:Notch binding|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(139678,'Experimental MF/BP Leaf Term GOA',NULL,15299,NULL,'GO:0070207|P:protein homotrimerization|IDA',NULL,NULL,NULL,NULL,NULL),(139679,'Experimental MF/BP Leaf Term GOA',NULL,15303,NULL,'GO:0005524|F:ATP binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139680,'Experimental MF/BP Leaf Term GOA',NULL,15304,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139681,'Experimental MF/BP Leaf Term GOA',NULL,15305,NULL,'GO:0022848|F:acetylcholine-gated cation-selective channel activity|IDA; GO:0035095|P:behavioral response to nicotine|IMP; GO:0007399|P:nervous system development|IMP; GO:0060084|P:synaptic transmission involved in micturition|IMP',NULL,NULL,NULL,NULL,NULL),(139682,'Experimental MF/BP Leaf Term GOA',NULL,15306,NULL,'GO:0051538|F:3 iron, 4 sulfur cluster binding|IMP; GO:0051539|F:4 iron, 4 sulfur cluster binding|IDA; GO:0003994|F:aconitate hydratase activity|IDA; GO:0030350|F:iron-responsive element binding|IDA',NULL,NULL,NULL,NULL,NULL),(139683,'Experimental MF/BP Leaf Term GOA',NULL,15308,NULL,'GO:0003994|F:aconitate hydratase activity|EXP',NULL,NULL,NULL,NULL,NULL),(139684,'Experimental MF/BP Leaf Term GOA',NULL,15309,NULL,'GO:0003407|P:neural retina development|IEP',NULL,NULL,NULL,NULL,NULL),(139685,'Experimental MF/BP Leaf Term GOA',NULL,15313,NULL,'GO:0001618|F:virus receptor activity|IDA; GO:0003051|P:angiotensin-mediated drinking behavior|IMP; GO:1903598|P:positive regulation of gap junction assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139686,'Experimental MF/BP Leaf Term GOA',NULL,15316,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139687,'Experimental MF/BP Leaf Term GOA',NULL,15317,NULL,'GO:0071456|P:cellular response to hypoxia|IDA; GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IDA; GO:2000391|P:positive regulation of neutrophil extravasation|IDA',NULL,NULL,NULL,NULL,NULL),(139688,'Experimental MF/BP Leaf Term GOA',NULL,15322,NULL,'GO:0070991|F:medium-chain-acyl-CoA dehydrogenase activity|IDA; GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139689,'Experimental MF/BP Leaf Term GOA',NULL,15324,NULL,'GO:0071633|F:dihydroceramidase activity|IDA; GO:0071277|P:cellular response to calcium ion|IDA; GO:0046512|P:sphingosine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139690,'Experimental MF/BP Leaf Term GOA',NULL,15327,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139691,'Experimental MF/BP Leaf Term GOA',NULL,15330,NULL,'GO:0043533|F:inositol 1,3,4,5 tetrakisphosphate binding|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(139692,'Experimental MF/BP Leaf Term GOA',NULL,15331,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0033344|P:cholesterol efflux|IMP; GO:0042632|P:cholesterol homeostasis|IMP; GO:0045796|P:negative regulation of intestinal cholesterol absorption|IMP; GO:0010949|P:negative regulation of intestinal phytosterol absorption|IMP',NULL,NULL,NULL,NULL,NULL),(139693,'Experimental MF/BP Leaf Term GOA',NULL,15332,NULL,'GO:0030263|P:apoptotic chromosome condensation|IDA; GO:0045657|P:positive regulation of monocyte differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(139694,'Experimental MF/BP Leaf Term GOA',NULL,15333,NULL,'GO:0016290|F:palmitoyl-CoA hydrolase activity|IDA; GO:0045225|P:negative regulation of CD4 biosynthetic process|IDA; GO:0016559|P:peroxisome fission|IDA',NULL,NULL,NULL,NULL,NULL),(139695,'Experimental MF/BP Leaf Term GOA',NULL,15339,NULL,'GO:0010891|P:negative regulation of sequestering of triglyceride|IDA; GO:0006654|P:phosphatidic acid biosynthetic process|IDA; GO:0010898|P:positive regulation of triglyceride catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139696,'Experimental MF/BP Leaf Term GOA',NULL,15340,NULL,'GO:0008474|F:palmitoyl-(protein) hydrolase activity|IMP',NULL,NULL,NULL,NULL,NULL),(139697,'Experimental MF/BP Leaf Term GOA',NULL,15342,NULL,'GO:0003989|F:acetyl-CoA carboxylase activity|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(139698,'Experimental MF/BP Leaf Term GOA',NULL,15343,NULL,'GO:0090307|P:mitotic spindle assembly|IMP; GO:0002931|P:response to ischemia|IMP',NULL,NULL,NULL,NULL,NULL),(139699,'Experimental MF/BP Leaf Term GOA',NULL,15345,NULL,'GO:0022848|F:acetylcholine-gated cation-selective channel activity|IMP; GO:0046716|P:muscle cell cellular homeostasis|IMP; GO:0019228|P:neuronal action potential|IMP; GO:0048630|P:skeletal muscle tissue growth|IMP',NULL,NULL,NULL,NULL,NULL),(139700,'Experimental MF/BP Leaf Term GOA',NULL,15351,NULL,'GO:0047844|F:deoxycytidine deaminase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0009972|P:cytidine deamination|IDA; GO:0070383|P:DNA cytosine deamination|IDA; GO:0045869|P:negative regulation of single stranded viral RNA replication via double stranded DNA intermediate|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IDA',NULL,NULL,NULL,NULL,NULL),(139701,'Experimental MF/BP Leaf Term GOA',NULL,15354,NULL,'GO:0022848|F:acetylcholine-gated cation-selective channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139702,'Experimental MF/BP Leaf Term GOA',NULL,15355,NULL,'GO:0071949|F:FAD binding|IDA; GO:0016401|F:palmitoyl-CoA oxidase activity|IDA; GO:0030165|F:PDZ domain binding|IDA; GO:0042632|P:cholesterol homeostasis|IGI; GO:0033540|P:fatty acid beta-oxidation using acyl-CoA oxidase|IMP; GO:0016559|P:peroxisome fission|IGI',NULL,NULL,NULL,NULL,NULL),(139703,'Experimental MF/BP Leaf Term GOA',NULL,15356,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP; GO:0009249|P:protein lipoylation|IMP',NULL,NULL,NULL,NULL,NULL),(139704,'Experimental MF/BP Leaf Term GOA',NULL,15357,NULL,'GO:0005524|F:ATP binding|IDA; GO:0060047|P:heart contraction|IMP',NULL,NULL,NULL,NULL,NULL),(139705,'Experimental MF/BP Leaf Term GOA',NULL,15358,NULL,'GO:0005522|F:profilin binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139706,'Experimental MF/BP Leaf Term GOA',NULL,15360,NULL,'GO:0004938|F:alpha2-adrenergic receptor activity|IDA; GO:0051379|F:epinephrine binding|IDA; GO:0032148|P:activation of protein kinase B activity|IDA; GO:0035624|P:receptor transactivation|IDA',NULL,NULL,NULL,NULL,NULL),(139707,'Experimental MF/BP Leaf Term GOA',NULL,15363,NULL,'GO:0008609|F:alkylglycerone-phosphate synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139708,'Experimental MF/BP Leaf Term GOA',NULL,15366,NULL,'GO:0006977|P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|IDA; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP',NULL,NULL,NULL,NULL,NULL),(139709,'Experimental MF/BP Leaf Term GOA',NULL,15368,NULL,'GO:0022850|F:serotonin-gated cation-selective channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139710,'Experimental MF/BP Leaf Term GOA',NULL,15370,NULL,'GO:0044714|F:2-hydroxy-(deoxy)adenosine-triphosphate pyrophosphatase activity|EXP; GO:0044713|F:2-hydroxy-adenosine triphosphate pyrophosphatase activity|EXP; GO:0035539|F:8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|IDA; GO:0008413|F:8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|IDA; GO:0047693|F:ATP diphosphatase activity|IDA; GO:0036219|F:GTP diphosphatase activity|IDA; GO:0046061|P:dATP catabolic process|IDA; GO:0006203|P:dGTP catabolic process|IDA; GO:0042262|P:DNA protection|IDA',NULL,NULL,NULL,NULL,NULL),(139711,'Experimental MF/BP Leaf Term GOA',NULL,15373,NULL,'GO:0043522|F:leucine zipper domain binding|IPI; GO:0032929|P:negative regulation of superoxide anion generation|IDA',NULL,NULL,NULL,NULL,NULL),(139712,'Experimental MF/BP Leaf Term GOA',NULL,15374,NULL,'GO:0047372|F:acylglycerol lipase activity|IDA; GO:0048240|P:sperm capacitation|IDA',NULL,NULL,NULL,NULL,NULL),(139713,'Experimental MF/BP Leaf Term GOA',NULL,15375,NULL,'GO:0009972|P:cytidine deamination|IDA',NULL,NULL,NULL,NULL,NULL),(139714,'Experimental MF/BP Leaf Term GOA',NULL,15379,NULL,'GO:1990763|F:arrestin family protein binding|IPI; GO:0016907|F:G protein-coupled acetylcholine receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(139715,'Experimental MF/BP Leaf Term GOA',NULL,15380,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0071300|P:cellular response to retinoic acid|IMP',NULL,NULL,NULL,NULL,NULL),(139716,'Experimental MF/BP Leaf Term GOA',NULL,15381,NULL,'GO:0070182|F:DNA polymerase binding|IPI; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IMP; GO:0060381|P:positive regulation of single-stranded telomeric DNA binding|IDA; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IDA; GO:0016233|P:telomere capping|IDA',NULL,NULL,NULL,NULL,NULL),(139717,'Experimental MF/BP Leaf Term GOA',NULL,15382,NULL,'GO:0042166|F:acetylcholine binding|IMP; GO:0022848|F:acetylcholine-gated cation-selective channel activity|IDA; GO:0035095|P:behavioral response to nicotine|IMP; GO:0008542|P:visual learning|IMP',NULL,NULL,NULL,NULL,NULL),(139718,'Experimental MF/BP Leaf Term GOA',NULL,15383,NULL,'GO:0070774|F:phytoceramidase activity|IDA; GO:0071602|P:phytosphingosine biosynthetic process|IDA; GO:0046512|P:sphingosine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139719,'Experimental MF/BP Leaf Term GOA',NULL,15384,NULL,'GO:0022848|F:acetylcholine-gated cation-selective channel activity|IDA; GO:0060084|P:synaptic transmission involved in micturition|IMP',NULL,NULL,NULL,NULL,NULL),(139720,'Experimental MF/BP Leaf Term GOA',NULL,15387,NULL,'GO:0031694|F:alpha-2A adrenergic receptor binding|IPI; GO:0004938|F:alpha2-adrenergic receptor activity|IDA; GO:0051379|F:epinephrine binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0032148|P:activation of protein kinase B activity|IDA; GO:0035624|P:receptor transactivation|IDA',NULL,NULL,NULL,NULL,NULL),(139721,'Experimental MF/BP Leaf Term GOA',NULL,15388,NULL,'GO:0004024|F:alcohol dehydrogenase activity, zinc-dependent|IDA; GO:0035276|F:ethanol binding|IDA; GO:0004745|F:retinol dehydrogenase activity|IDA; GO:0006069|P:ethanol oxidation|IDA; GO:0010430|P:fatty acid omega-oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(139722,'Experimental MF/BP Leaf Term GOA',NULL,15392,NULL,'GO:0018467|F:formaldehyde dehydrogenase activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(139723,'Experimental MF/BP Leaf Term GOA',NULL,15393,NULL,'GO:0020037|F:heme binding|IDA; GO:0019862|F:IgA binding|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(139724,'Experimental MF/BP Leaf Term GOA',NULL,15394,NULL,'GO:0015889|P:cobalamin transport|IDA',NULL,NULL,NULL,NULL,NULL),(139725,'Experimental MF/BP Leaf Term GOA',NULL,15398,NULL,'GO:0031432|F:titin binding|IPI',NULL,NULL,NULL,NULL,NULL),(139726,'Experimental MF/BP Leaf Term GOA',NULL,15399,NULL,'GO:0042826|F:histone deacetylase binding|IDA; GO:0050750|F:low-density lipoprotein particle receptor binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IDA',NULL,NULL,NULL,NULL,NULL),(139727,'Experimental MF/BP Leaf Term GOA',NULL,15401,NULL,'GO:0031704|F:apelin receptor binding|IDA; GO:0060183|P:apelin receptor signaling pathway|IDA; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IMP; GO:1904022|P:positive regulation of G protein-coupled receptor internalization|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IDA; GO:1905564|P:positive regulation of vascular endothelial cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(139728,'Experimental MF/BP Leaf Term GOA',NULL,15402,NULL,'GO:0015254|F:glycerol channel activity|EXP; GO:0015250|F:water channel activity|EXP',NULL,NULL,NULL,NULL,NULL),(139729,'Experimental MF/BP Leaf Term GOA',NULL,15404,NULL,'GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(139730,'Experimental MF/BP Leaf Term GOA',NULL,15405,NULL,'GO:0003876|F:AMP deaminase activity|EXP',NULL,NULL,NULL,NULL,NULL),(139731,'Experimental MF/BP Leaf Term GOA',NULL,15407,NULL,'GO:1900245|P:positive regulation of MDA-5 signaling pathway|IDA; GO:1900246|P:positive regulation of RIG-I signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139732,'Experimental MF/BP Leaf Term GOA',NULL,15413,NULL,'GO:0005229|F:intracellular calcium activated chloride channel activity|IMP; GO:1902939|P:negative regulation of intracellular calcium activated chloride channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139733,'Experimental MF/BP Leaf Term GOA',NULL,15414,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0070840|F:dynein complex binding|IPI; GO:0045295|F:gamma-catenin binding|IPI; GO:0051010|F:microtubule plus-end binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:0007094|P:mitotic spindle assembly checkpoint|IMP; GO:1904781|P:positive regulation of protein localization to centrosome|IMP',NULL,NULL,NULL,NULL,NULL),(139734,'Experimental MF/BP Leaf Term GOA',NULL,15415,NULL,'GO:0005544|F:calcium-dependent phospholipid binding|IDA; GO:0043312|P:neutrophil degranulation|IDA',NULL,NULL,NULL,NULL,NULL),(139735,'Experimental MF/BP Leaf Term GOA',NULL,15416,NULL,'GO:0017134|F:fibroblast growth factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(139736,'Experimental MF/BP Leaf Term GOA',NULL,15417,NULL,'GO:0008201|F:heparin binding|IDA; GO:0035473|F:lipase binding|IPI; GO:0060230|F:lipoprotein lipase activator activity|IDA; GO:0050750|F:low-density lipoprotein particle receptor binding|IPI; GO:0031210|F:phosphatidylcholine binding|IDA; GO:0042632|P:cholesterol homeostasis|IDA; GO:0051006|P:positive regulation of lipoprotein lipase activity|IDA; GO:0010898|P:positive regulation of triglyceride catabolic process|IDA; GO:0010902|P:positive regulation of very-low-density lipoprotein particle remodeling|IDA; GO:0019433|P:triglyceride catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(139737,'Experimental MF/BP Leaf Term GOA',NULL,15419,NULL,'GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(139738,'Experimental MF/BP Leaf Term GOA',NULL,15423,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0030507|F:spectrin binding|IDA; GO:0006888|P:ER to Golgi vesicle-mediated transport|IDA',NULL,NULL,NULL,NULL,NULL),(139739,'Experimental MF/BP Leaf Term GOA',NULL,15426,NULL,'GO:0005229|F:intracellular calcium activated chloride channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139740,'Experimental MF/BP Leaf Term GOA',NULL,15428,NULL,'GO:0030504|F:inorganic diphosphate transmembrane transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(139741,'Experimental MF/BP Leaf Term GOA',NULL,15429,NULL,'GO:0016277|F:[myelin basic protein]-arginine N-methyltransferase activity|IDA; GO:0035241|F:protein-arginine omega-N monomethyltransferase activity|IDA; GO:0035243|F:protein-arginine omega-N symmetric methyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139742,'Experimental MF/BP Leaf Term GOA',NULL,15430,NULL,'GO:0050681|F:androgen receptor binding|IPI; GO:0030331|F:estrogen receptor binding|IDA; GO:0042975|F:peroxisome proliferator activated receptor binding|IPI; GO:0033142|F:progesterone receptor binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0046966|F:thyroid hormone receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(139743,'Experimental MF/BP Leaf Term GOA',NULL,15431,NULL,'GO:0097602|F:cullin family protein binding|IDA; GO:0034450|F:ubiquitin-ubiquitin ligase activity|IDA; GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139744,'Experimental MF/BP Leaf Term GOA',NULL,15432,NULL,'GO:0005544|F:calcium-dependent phospholipid binding|IDA',NULL,NULL,NULL,NULL,NULL),(139745,'Experimental MF/BP Leaf Term GOA',NULL,15433,NULL,'GO:0001540|F:amyloid-beta binding|IDA; GO:0034191|F:apolipoprotein A-I receptor binding|IPI; GO:0045499|F:chemorepellent activity|IDA; GO:0015485|F:cholesterol binding|IDA; GO:0070653|F:high-density lipoprotein particle receptor binding|IPI; GO:0060228|F:phosphatidylcholine-sterol O-acyltransferase activator activity|IDA; GO:0033344|P:cholesterol efflux|IDA; GO:0042632|P:cholesterol homeostasis|IDA; GO:0070508|P:cholesterol import|IMP; GO:0034380|P:high-density lipoprotein particle assembly|IDA; GO:0007229|P:integrin-mediated signaling pathway|IDA; GO:0060354|P:negative regulation of cell adhesion molecule production|IDA; GO:0002740|P:negative regulation of cytokine secretion involved in immune response|IDA; GO:0034115|P:negative regulation of heterotypic cell-cell adhesion|IDA; GO:0050713|P:negative regulation of interleukin-1 beta secretion|IDA; GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IDA; GO:0010903|P:negative regulation of very-low-density lipoprotein particle remodeling|IDA; GO:0033700|P:phospholipid efflux|IDA; GO:0055091|P:phospholipid homeostasis|IDA; GO:0010873|P:positive regulation of cholesterol esterification|IDA; GO:0035025|P:positive regulation of Rho protein signal transduction|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IDA; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IDA; GO:0050821|P:protein stabilization|IDA; GO:0032489|P:regulation of Cdc42 protein signal transduction|IDA; GO:0043691|P:reverse cholesterol transport|IMP',NULL,NULL,NULL,NULL,NULL),(139746,'Experimental MF/BP Leaf Term GOA',NULL,15434,NULL,'GO:0015250|F:water channel activity|EXP; GO:0071346|P:cellular response to interferon-gamma|IDA',NULL,NULL,NULL,NULL,NULL),(139747,'Experimental MF/BP Leaf Term GOA',NULL,15435,NULL,'GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(139748,'Experimental MF/BP Leaf Term GOA',NULL,15436,NULL,'GO:0033689|P:negative regulation of osteoblast proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(139749,'Experimental MF/BP Leaf Term GOA',NULL,15438,NULL,'GO:0070935|P:3\'-UTR-mediated mRNA stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(139750,'Experimental MF/BP Leaf Term GOA',NULL,15441,NULL,'GO:0035646|P:endosome to melanosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(139751,'Experimental MF/BP Leaf Term GOA',NULL,15445,NULL,'GO:1904325|P:positive regulation of inhibitory G protein-coupled receptor phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(139752,'Experimental MF/BP Leaf Term GOA',NULL,15446,NULL,'GO:0034205|P:amyloid-beta formation|IMP; GO:0007220|P:Notch receptor processing|IMP',NULL,NULL,NULL,NULL,NULL),(139753,'Experimental MF/BP Leaf Term GOA',NULL,15447,NULL,'GO:0015250|F:water channel activity|IDA; GO:0030157|P:pancreatic juice secretion|IEP',NULL,NULL,NULL,NULL,NULL),(139754,'Experimental MF/BP Leaf Term GOA',NULL,15448,NULL,'GO:0043532|F:angiostatin binding|IDA; GO:0035329|P:hippo signaling|IGI; GO:0043116|P:negative regulation of vascular permeability|IDA',NULL,NULL,NULL,NULL,NULL),(139755,'Experimental MF/BP Leaf Term GOA',NULL,15450,NULL,'GO:0050750|F:low-density lipoprotein particle receptor binding|IDA; GO:0070326|F:very-low-density lipoprotein particle receptor binding|IPI; GO:1900222|P:negative regulation of amyloid-beta clearance|IGI; GO:0010916|P:negative regulation of very-low-density lipoprotein particle clearance|IDA',NULL,NULL,NULL,NULL,NULL),(139756,'Experimental MF/BP Leaf Term GOA',NULL,15453,NULL,'GO:0005229|F:intracellular calcium activated chloride channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139757,'Experimental MF/BP Leaf Term GOA',NULL,15454,NULL,'GO:0005544|F:calcium-dependent phospholipid binding|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:1900138|P:negative regulation of phospholipase A2 activity|IDA; GO:1900004|P:negative regulation of serine-type endopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139758,'Experimental MF/BP Leaf Term GOA',NULL,15458,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0035242|F:protein-arginine omega-N asymmetric methyltransferase activity|IDA; GO:0035241|F:protein-arginine omega-N monomethyltransferase activity|IDA; GO:1904047|F:S-adenosyl-L-methionine binding|IDA; GO:0019919|P:peptidyl-arginine methylation, to asymmetrical-dimethyl arginine|IDA',NULL,NULL,NULL,NULL,NULL),(139759,'Experimental MF/BP Leaf Term GOA',NULL,15459,NULL,'GO:0007080|P:mitotic metaphase plate congression|IMP',NULL,NULL,NULL,NULL,NULL),(139760,'Experimental MF/BP Leaf Term GOA',NULL,15461,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0010944|P:negative regulation of transcription by competitive promoter binding|IDA; GO:0010842|P:retina layer formation|IEP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(139761,'Experimental MF/BP Leaf Term GOA',NULL,15467,NULL,'GO:0030742|F:GTP-dependent protein binding|IPI; GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(139762,'Experimental MF/BP Leaf Term GOA',NULL,15469,NULL,'GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139763,'Experimental MF/BP Leaf Term GOA',NULL,15473,NULL,'GO:0052597|F:diamine oxidase activity|IDA; GO:0008201|F:heparin binding|IDA; GO:0008131|F:primary amine oxidase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0097185|P:cellular response to azide|IDA; GO:0071280|P:cellular response to copper ion|IDA; GO:0071420|P:cellular response to histamine|IDA',NULL,NULL,NULL,NULL,NULL),(139764,'Experimental MF/BP Leaf Term GOA',NULL,15476,NULL,'GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(139765,'Experimental MF/BP Leaf Term GOA',NULL,15477,NULL,'GO:0046875|F:ephrin receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(139766,'Experimental MF/BP Leaf Term GOA',NULL,15483,NULL,'GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139767,'Experimental MF/BP Leaf Term GOA',NULL,15486,NULL,'GO:0003691|F:double-stranded telomeric DNA binding|IDA; GO:0097698|P:telomere maintenance via base-excision repair|IDA',NULL,NULL,NULL,NULL,NULL),(139768,'Experimental MF/BP Leaf Term GOA',NULL,15487,NULL,'GO:0008201|F:heparin binding|IDA; GO:0035473|F:lipase binding|IPI; GO:0050750|F:low-density lipoprotein particle receptor binding|IMP; GO:0042632|P:cholesterol homeostasis|IMP; GO:0034383|P:low-density lipoprotein particle clearance|IMP; GO:0034374|P:low-density lipoprotein particle remodeling|IMP; GO:0010886|P:positive regulation of cholesterol storage|IDA; GO:0010744|P:positive regulation of macrophage derived foam cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(139769,'Experimental MF/BP Leaf Term GOA',NULL,15489,NULL,'GO:0071787|P:endoplasmic reticulum tubular network formation|IDA; GO:1990809|P:endoplasmic reticulum tubular network membrane organization|IDA',NULL,NULL,NULL,NULL,NULL),(139770,'Experimental MF/BP Leaf Term GOA',NULL,15490,NULL,'GO:0060230|F:lipoprotein lipase activator activity|IDA; GO:0007597|P:blood coagulation, intrinsic pathway|IDA; GO:0051918|P:negative regulation of fibrinolysis|IDA; GO:0051006|P:positive regulation of lipoprotein lipase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139771,'Experimental MF/BP Leaf Term GOA',NULL,15493,NULL,'GO:0090521|P:glomerular visceral epithelial cell migration|IMP; GO:1904172|P:positive regulation of bleb assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139772,'Experimental MF/BP Leaf Term GOA',NULL,15494,NULL,'GO:0045022|P:early endosome to late endosome transport|IDA; GO:0035544|P:negative regulation of SNARE complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(139773,'Experimental MF/BP Leaf Term GOA',NULL,15497,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0006182|P:cGMP biosynthetic process|IDA; GO:0007168|P:receptor guanylyl cyclase signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139774,'Experimental MF/BP Leaf Term GOA',NULL,15498,NULL,'GO:0060325|P:face morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(139775,'Experimental MF/BP Leaf Term GOA',NULL,15500,NULL,'GO:0035646|P:endosome to melanosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(139776,'Experimental MF/BP Leaf Term GOA',NULL,15501,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0002039|F:p53 binding|IPI; GO:0070412|F:R-SMAD binding|IPI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0031432|F:titin binding|IPI; GO:0071347|P:cellular response to interleukin-1|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071260|P:cellular response to mechanical stimulus|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA',NULL,NULL,NULL,NULL,NULL),(139777,'Experimental MF/BP Leaf Term GOA',NULL,15502,NULL,'GO:0050750|F:low-density lipoprotein particle receptor binding|IPI; GO:1900126|P:negative regulation of hyaluronan biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139778,'Experimental MF/BP Leaf Term GOA',NULL,15503,NULL,'GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139779,'Experimental MF/BP Leaf Term GOA',NULL,15505,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0010842|P:retina layer formation|IEP',NULL,NULL,NULL,NULL,NULL),(139780,'Experimental MF/BP Leaf Term GOA',NULL,15507,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0030507|F:spectrin binding|IPI; GO:0086014|P:atrial cardiac muscle cell action potential|IMP; GO:0010881|P:regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|IGI; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0098907|P:regulation of SA node cell action potential|IMP; GO:0086005|P:ventricular cardiac muscle cell action potential|IMP',NULL,NULL,NULL,NULL,NULL),(139781,'Experimental MF/BP Leaf Term GOA',NULL,15512,NULL,'GO:0035650|F:AP-1 adaptor complex binding|IDA; GO:0001920|P:negative regulation of receptor recycling|IMP; GO:1900025|P:negative regulation of substrate adhesion-dependent cell spreading|IMP; GO:0048203|P:vesicle targeting, trans-Golgi to endosome|IDA',NULL,NULL,NULL,NULL,NULL),(139782,'Experimental MF/BP Leaf Term GOA',NULL,15513,NULL,'GO:0008131|F:primary amine oxidase activity|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:1902283|P:negative regulation of primary amine oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139783,'Experimental MF/BP Leaf Term GOA',NULL,15514,NULL,'GO:0051721|F:protein phosphatase 2A binding|IDA; GO:0007417|P:central nervous system development|IDA; GO:0007084|P:mitotic nuclear envelope reassembly|IMP',NULL,NULL,NULL,NULL,NULL),(139784,'Experimental MF/BP Leaf Term GOA',NULL,15515,NULL,'GO:0005544|F:calcium-dependent phospholipid binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IMP; GO:0019834|F:phospholipase A2 inhibitor activity|IDA; GO:0044548|F:S100 protein binding|IPI; GO:0052362|P:catabolism by host of symbiont protein|IMP; GO:0032804|P:negative regulation of low-density lipoprotein particle receptor catabolic process|IDA; GO:0036035|P:osteoclast development|IDA; GO:1905581|P:positive regulation of low-density lipoprotein particle clearance|IDA; GO:1905597|P:positive regulation of low-density lipoprotein particle receptor binding|IDA; GO:1905599|P:positive regulation of low-density lipoprotein receptor activity|IMP; GO:0001921|P:positive regulation of receptor recycling|IDA; GO:1905602|P:positive regulation of receptor-mediated endocytosis involved in cholesterol transport|IDA; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(139785,'Experimental MF/BP Leaf Term GOA',NULL,15518,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:1900016|P:negative regulation of cytokine production involved in inflammatory response|IDA; GO:0051895|P:negative regulation of focal adhesion assembly|IMP; GO:0060588|P:negative regulation of lipoprotein lipid oxidation|IDA; GO:0071638|P:negative regulation of monocyte chemotactic protein-1 production|IDA; GO:0042308|P:negative regulation of protein import into nucleus|IDA; GO:2000098|P:negative regulation of smooth muscle cell-matrix adhesion|IMP',NULL,NULL,NULL,NULL,NULL),(139786,'Experimental MF/BP Leaf Term GOA',NULL,15519,NULL,'GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139787,'Experimental MF/BP Leaf Term GOA',NULL,15526,NULL,'GO:0030298|F:receptor signaling protein tyrosine kinase activator activity|IDA; GO:0070378|P:positive regulation of ERK5 cascade|IDA',NULL,NULL,NULL,NULL,NULL),(139788,'Experimental MF/BP Leaf Term GOA',NULL,15527,NULL,'GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(139789,'Experimental MF/BP Leaf Term GOA',NULL,15530,NULL,'GO:0001786|F:phosphatidylserine binding|IDA',NULL,NULL,NULL,NULL,NULL),(139790,'Experimental MF/BP Leaf Term GOA',NULL,15543,NULL,'GO:0071886|F:1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|IDA; GO:0051378|F:serotonin binding|IDA; GO:0007202|P:activation of phospholipase C activity|IDA; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IDA',NULL,NULL,NULL,NULL,NULL),(139791,'Experimental MF/BP Leaf Term GOA',NULL,15546,NULL,'GO:0031957|F:very long-chain fatty acid-CoA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139792,'Experimental MF/BP Leaf Term GOA',NULL,15549,NULL,'GO:0042270|P:protection from natural killer cell mediated cytotoxicity|IDA',NULL,NULL,NULL,NULL,NULL),(139793,'Experimental MF/BP Leaf Term GOA',NULL,15550,NULL,'GO:0042605|F:peptide antigen binding|IDA',NULL,NULL,NULL,NULL,NULL),(139794,'Experimental MF/BP Leaf Term GOA',NULL,15551,NULL,'GO:0042605|F:peptide antigen binding|IDA; GO:0002486|P:antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent|IDA',NULL,NULL,NULL,NULL,NULL),(139795,'Experimental MF/BP Leaf Term GOA',NULL,15552,NULL,'GO:0008442|F:3-hydroxyisobutyrate dehydrogenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139796,'Experimental MF/BP Leaf Term GOA',NULL,15557,NULL,'GO:0022850|F:serotonin-gated cation-selective channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139797,'Experimental MF/BP Leaf Term GOA',NULL,15563,NULL,'GO:0004126|F:cytidine deaminase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0070383|P:DNA cytosine deamination|IDA; GO:0045869|P:negative regulation of single stranded viral RNA replication via double stranded DNA intermediate|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IDA',NULL,NULL,NULL,NULL,NULL),(139798,'Experimental MF/BP Leaf Term GOA',NULL,15564,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0033344|P:cholesterol efflux|IMP; GO:0042632|P:cholesterol homeostasis|IMP; GO:0045796|P:negative regulation of intestinal cholesterol absorption|IMP; GO:0010949|P:negative regulation of intestinal phytosterol absorption|IMP',NULL,NULL,NULL,NULL,NULL),(139799,'Experimental MF/BP Leaf Term GOA',NULL,15565,NULL,'GO:0017124|F:SH3 domain binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:2000601|P:positive regulation of Arp2/3 complex-mediated actin nucleation|IDA; GO:0016601|P:Rac protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(139800,'Experimental MF/BP Leaf Term GOA',NULL,15566,NULL,'GO:0004126|F:cytidine deaminase activity|IDA; GO:0070383|P:DNA cytosine deamination|IDA; GO:0045869|P:negative regulation of single stranded viral RNA replication via double stranded DNA intermediate|IDA',NULL,NULL,NULL,NULL,NULL),(139801,'Experimental MF/BP Leaf Term GOA',NULL,15568,NULL,'GO:0022848|F:acetylcholine-gated cation-selective channel activity|IDA; GO:0035095|P:behavioral response to nicotine|IMP',NULL,NULL,NULL,NULL,NULL),(139802,'Experimental MF/BP Leaf Term GOA',NULL,15569,NULL,'GO:0042826|F:histone deacetylase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139803,'Experimental MF/BP Leaf Term GOA',NULL,15570,NULL,'GO:0003854|F:3-beta-hydroxy-delta5-steroid dehydrogenase activity|IDA; GO:0004769|F:steroid delta-isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139804,'Experimental MF/BP Leaf Term GOA',NULL,15573,NULL,'GO:0051082|F:unfolded protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(139805,'Experimental MF/BP Leaf Term GOA',NULL,15575,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(139806,'Experimental MF/BP Leaf Term GOA',NULL,15576,NULL,'GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(139807,'Experimental MF/BP Leaf Term GOA',NULL,15578,NULL,'GO:0047131|F:saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|EXP; GO:0047130|F:saccharopine dehydrogenase (NADP+, L-lysine-forming) activity|EXP',NULL,NULL,NULL,NULL,NULL),(139808,'Experimental MF/BP Leaf Term GOA',NULL,15580,NULL,'GO:0031404|F:chloride ion binding|IDA; GO:0070573|F:metallodipeptidase activity|EXP; GO:0031434|F:mitogen-activated protein kinase kinase binding|IPI; GO:0008241|F:peptidyl-dipeptidase activity|IDA; GO:0008240|F:tripeptidyl-peptidase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0050482|P:arachidonic acid secretion|IDA; GO:0060177|P:regulation of angiotensin metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139809,'Experimental MF/BP Leaf Term GOA',NULL,15582,NULL,'GO:0030881|F:beta-2-microglobulin binding|IMP; GO:0042605|F:peptide antigen binding|IMP',NULL,NULL,NULL,NULL,NULL),(139810,'Experimental MF/BP Leaf Term GOA',NULL,15588,NULL,'GO:0043531|F:ADP binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0034437|F:glycoprotein transporter activity|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0034041|F:sterol-transporting ATPase activity|IDA; GO:0033344|P:cholesterol efflux|IDA; GO:0042632|P:cholesterol homeostasis|IDA; GO:0034436|P:glycoprotein transport|IDA; GO:0033700|P:phospholipid efflux|IMP; GO:0055091|P:phospholipid homeostasis|IMP',NULL,NULL,NULL,NULL,NULL),(139811,'Experimental MF/BP Leaf Term GOA',NULL,15589,NULL,'GO:0034191|F:apolipoprotein A-I receptor binding|IPI; GO:0033700|P:phospholipid efflux|IMP; GO:0010875|P:positive regulation of cholesterol efflux|IDA',NULL,NULL,NULL,NULL,NULL),(139812,'Experimental MF/BP Leaf Term GOA',NULL,15590,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139813,'Experimental MF/BP Leaf Term GOA',NULL,15592,NULL,'GO:0005524|F:ATP binding|IDA; GO:0042632|P:cholesterol homeostasis|IEP',NULL,NULL,NULL,NULL,NULL),(139814,'Experimental MF/BP Leaf Term GOA',NULL,15594,NULL,'GO:0005524|F:ATP binding|IDA; GO:0008494|F:translation activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(139815,'Experimental MF/BP Leaf Term GOA',NULL,15595,NULL,'GO:0042166|F:acetylcholine binding|IDA; GO:0003990|F:acetylcholinesterase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0002076|P:osteoblast development|IEP',NULL,NULL,NULL,NULL,NULL),(139816,'Experimental MF/BP Leaf Term GOA',NULL,15597,NULL,'GO:0042609|F:CD4 receptor binding|IPI; GO:0042605|F:peptide antigen binding|IDA; GO:0002503|P:peptide antigen assembly with MHC class II protein complex|IDA; GO:0045657|P:positive regulation of monocyte differentiation|IDA; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(139817,'Experimental MF/BP Leaf Term GOA',NULL,15598,NULL,'GO:0042605|F:peptide antigen binding|IDA; GO:0042270|P:protection from natural killer cell mediated cytotoxicity|IDA',NULL,NULL,NULL,NULL,NULL),(139818,'Experimental MF/BP Leaf Term GOA',NULL,15605,NULL,'GO:0019959|F:interleukin-8 binding|IPI; GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(139819,'Experimental MF/BP Leaf Term GOA',NULL,15608,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0038191|F:neuropilin binding|IPI; GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0005080|F:protein kinase C binding|IPI; GO:0042169|F:SH2 domain binding|IPI; GO:0017124|F:SH3 domain binding|IPI; GO:1990051|P:activation of protein kinase C activity|IDA; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0006975|P:DNA damage induced protein phosphorylation|IDA; GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:1900275|P:negative regulation of phospholipase C activity|IMP; GO:0038083|P:peptidyl-tyrosine autophosphorylation|IDA; GO:2000251|P:positive regulation of actin cytoskeleton reorganization|IMP; GO:1904531|P:positive regulation of actin filament binding|IMP; GO:0051894|P:positive regulation of focal adhesion assembly|IMP; GO:0051496|P:positive regulation of stress fiber assembly|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP; GO:0032489|P:regulation of Cdc42 protein signal transduction|IMP',NULL,NULL,NULL,NULL,NULL),(139820,'Experimental MF/BP Leaf Term GOA',NULL,15614,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051683|P:establishment of Golgi localization|IMP; GO:0090168|P:Golgi reassembly|IMP',NULL,NULL,NULL,NULL,NULL),(139821,'Experimental MF/BP Leaf Term GOA',NULL,15619,NULL,'GO:0070383|P:DNA cytosine deamination|IDA; GO:0045869|P:negative regulation of single stranded viral RNA replication via double stranded DNA intermediate|IDA',NULL,NULL,NULL,NULL,NULL),(139822,'Experimental MF/BP Leaf Term GOA',NULL,15624,NULL,'GO:0051378|F:serotonin binding|IDA',NULL,NULL,NULL,NULL,NULL),(139823,'Experimental MF/BP Leaf Term GOA',NULL,15629,NULL,'GO:0033539|P:fatty acid beta-oxidation using acyl-CoA dehydrogenase|IDA',NULL,NULL,NULL,NULL,NULL),(139824,'Experimental MF/BP Leaf Term GOA',NULL,15632,NULL,'GO:0034186|F:apolipoprotein A-I binding|IPI; GO:0034188|F:apolipoprotein A-I receptor activity|IDA; GO:0005524|F:ATP binding|IDA; GO:0051117|F:ATPase binding|IPI; GO:0090554|F:phosphatidylcholine-translocating ATPase activity|IDA; GO:0090556|F:phosphatidylserine-translocating ATPase activity|IDA; GO:0071404|P:cellular response to low-density lipoprotein particle stimulus|IEP; GO:0033344|P:cholesterol efflux|IDA; GO:0042632|P:cholesterol homeostasis|IDA; GO:0034380|P:high-density lipoprotein particle assembly|IMP; GO:0050702|P:interleukin-1 beta secretion|IMP; GO:0033700|P:phospholipid efflux|IDA; GO:0055091|P:phospholipid homeostasis|IMP; GO:0060155|P:platelet dense granule organization|IMP; GO:0010875|P:positive regulation of cholesterol efflux|IMP; GO:0032489|P:regulation of Cdc42 protein signal transduction|IMP; GO:0043691|P:reverse cholesterol transport|IMP',NULL,NULL,NULL,NULL,NULL),(139825,'Experimental MF/BP Leaf Term GOA',NULL,15633,NULL,'GO:0060698|F:endoribonuclease inhibitor activity|IDA; GO:0060702|P:negative regulation of endoribonuclease activity|IDA',NULL,NULL,NULL,NULL,NULL),(139826,'Experimental MF/BP Leaf Term GOA',NULL,15635,NULL,'GO:0033539|P:fatty acid beta-oxidation using acyl-CoA dehydrogenase|IDA',NULL,NULL,NULL,NULL,NULL),(139827,'Experimental MF/BP Leaf Term GOA',NULL,15638,NULL,'GO:0008190|F:eukaryotic initiation factor 4E binding|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IMP',NULL,NULL,NULL,NULL,NULL),(139828,'Experimental MF/BP Leaf Term GOA',NULL,15641,NULL,'GO:0042605|F:peptide antigen binding|IDA; GO:0002486|P:antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent|IDA',NULL,NULL,NULL,NULL,NULL),(139829,'Experimental MF/BP Leaf Term GOA',NULL,15643,NULL,'GO:0008474|F:palmitoyl-(protein) hydrolase activity|IMP',NULL,NULL,NULL,NULL,NULL),(139830,'Experimental MF/BP Leaf Term GOA',NULL,15646,NULL,'GO:0005524|F:ATP binding|IDA; GO:0020037|F:heme binding|IDA; GO:0015439|F:heme-transporting ATPase activity|IMP; GO:0007420|P:brain development|IMP; GO:0043588|P:skin development|IMP',NULL,NULL,NULL,NULL,NULL),(139831,'Experimental MF/BP Leaf Term GOA',NULL,15649,NULL,'GO:0042605|F:peptide antigen binding|IDA; GO:0002455|P:humoral immune response mediated by circulating immunoglobulin|IDA; GO:0002503|P:peptide antigen assembly with MHC class II protein complex|IDA',NULL,NULL,NULL,NULL,NULL),(139832,'Experimental MF/BP Leaf Term GOA',NULL,15660,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0042760|P:very long-chain fatty acid catabolic process|IGI',NULL,NULL,NULL,NULL,NULL),(139833,'Experimental MF/BP Leaf Term GOA',NULL,15662,NULL,'GO:0036042|F:long-chain fatty acyl-CoA binding|IDA; GO:0036151|P:phosphatidylcholine acyl-chain remodeling|IDA',NULL,NULL,NULL,NULL,NULL),(139834,'Experimental MF/BP Leaf Term GOA',NULL,15663,NULL,'GO:0030881|F:beta-2-microglobulin binding|IDA; GO:0042605|F:peptide antigen binding|IDA; GO:0042608|F:T cell receptor binding|IDA; GO:0002486|P:antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:2000566|P:positive regulation of CD8-positive, alpha-beta T cell proliferation|IDA; GO:2000568|P:positive regulation of memory T cell activation|IDA; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(139835,'Experimental MF/BP Leaf Term GOA',NULL,15665,NULL,'GO:1990405|F:protein antigen binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(139836,'Experimental MF/BP Leaf Term GOA',NULL,15671,NULL,'GO:0034188|F:apolipoprotein A-I receptor activity|IDA; GO:0090554|F:phosphatidylcholine-translocating ATPase activity|IDA; GO:0090556|F:phosphatidylserine-translocating ATPase activity|IDA; GO:0038027|P:apolipoprotein A-I-mediated signaling pathway|IDA; GO:0033344|P:cholesterol efflux|IDA; GO:0034380|P:high-density lipoprotein particle assembly|IDA; GO:0033700|P:phospholipid efflux|IDA',NULL,NULL,NULL,NULL,NULL),(139837,'Experimental MF/BP Leaf Term GOA',NULL,15672,NULL,'GO:0008970|F:phospholipase A1 activity|IMP',NULL,NULL,NULL,NULL,NULL),(139838,'Experimental MF/BP Leaf Term GOA',NULL,15673,NULL,'GO:0047372|F:acylglycerol lipase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139839,'Experimental MF/BP Leaf Term GOA',NULL,15674,NULL,'GO:0019391|P:glucuronoside catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139840,'Experimental MF/BP Leaf Term GOA',NULL,15675,NULL,'GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(139841,'Experimental MF/BP Leaf Term GOA',NULL,15677,NULL,'GO:0022848|F:acetylcholine-gated cation-selective channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139842,'Experimental MF/BP Leaf Term GOA',NULL,15678,NULL,'GO:0035095|P:behavioral response to nicotine|IMP; GO:0007271|P:synaptic transmission, cholinergic|IMP',NULL,NULL,NULL,NULL,NULL),(139843,'Experimental MF/BP Leaf Term GOA',NULL,15679,NULL,'GO:0003878|F:ATP citrate synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139844,'Experimental MF/BP Leaf Term GOA',NULL,15682,NULL,'GO:0006171|P:cAMP biosynthetic process|IDA; GO:0071361|P:cellular response to ethanol|IDA',NULL,NULL,NULL,NULL,NULL),(139845,'Experimental MF/BP Leaf Term GOA',NULL,15685,NULL,'GO:0035116|P:embryonic hindlimb morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(139846,'Experimental MF/BP Leaf Term GOA',NULL,15686,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139847,'Experimental MF/BP Leaf Term GOA',NULL,15687,NULL,'GO:0045494|P:photoreceptor cell maintenance|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(139848,'Experimental MF/BP Leaf Term GOA',NULL,15688,NULL,'GO:0047760|F:butyrate-CoA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139849,'Experimental MF/BP Leaf Term GOA',NULL,15689,NULL,'GO:0034379|P:very-low-density lipoprotein particle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139850,'Experimental MF/BP Leaf Term GOA',NULL,15692,NULL,'GO:0006171|P:cAMP biosynthetic process|IDA; GO:1904322|P:cellular response to forskolin|IDA',NULL,NULL,NULL,NULL,NULL),(139851,'Experimental MF/BP Leaf Term GOA',NULL,15695,NULL,'GO:0031700|F:adrenomedullin receptor binding|IDA; GO:1990410|P:adrenomedullin receptor signaling pathway|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(139852,'Experimental MF/BP Leaf Term GOA',NULL,15697,NULL,'GO:0045654|P:positive regulation of megakaryocyte differentiation|IMP; GO:0042989|P:sequestering of actin monomers|IMP',NULL,NULL,NULL,NULL,NULL),(139853,'Experimental MF/BP Leaf Term GOA',NULL,15699,NULL,'GO:0017124|F:SH3 domain binding|IPI; GO:1904628|P:cellular response to phorbol 13-acetate 12-myristate|IDA; GO:0007229|P:integrin-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139854,'Experimental MF/BP Leaf Term GOA',NULL,15700,NULL,'GO:0061133|F:endopeptidase activator activity|IDA; GO:0070628|F:proteasome binding|IDA; GO:0006368|P:transcription elongation from RNA polymerase II promoter|IMP',NULL,NULL,NULL,NULL,NULL),(139855,'Experimental MF/BP Leaf Term GOA',NULL,15702,NULL,'GO:0071346|P:cellular response to interferon-gamma|IEP; GO:0071672|P:negative regulation of smooth muscle cell chemotaxis|IDA; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA; GO:0071673|P:positive regulation of smooth muscle cell chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(139856,'Experimental MF/BP Leaf Term GOA',NULL,15703,NULL,'GO:0008453|F:alanine-glyoxylate transaminase activity|IDA; GO:0019265|P:glycine biosynthetic process, by transamination of glyoxylate|IDA; GO:0009436|P:glyoxylate catabolic process|IDA; GO:0019481|P:L-alanine catabolic process, by transamination|IDA; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139857,'Experimental MF/BP Leaf Term GOA',NULL,15705,NULL,'GO:0045294|F:alpha-catenin binding|IDA; GO:0035195|P:gene silencing by miRNA|IMP; GO:0035331|P:negative regulation of hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(139858,'Experimental MF/BP Leaf Term GOA',NULL,15709,NULL,'GO:0005044|F:scavenger receptor activity|IMP',NULL,NULL,NULL,NULL,NULL),(139859,'Experimental MF/BP Leaf Term GOA',NULL,15710,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0099186|F:structural constituent of postsynapse|IDA; GO:0017166|F:vinculin binding|IDA; GO:0051639|P:actin filament network formation|IMP; GO:0048041|P:focal adhesion assembly|IMP; GO:0030220|P:platelet formation|IMP; GO:0036344|P:platelet morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(139860,'Experimental MF/BP Leaf Term GOA',NULL,15712,NULL,'GO:0051373|F:FATZ binding|IDA; GO:0044325|F:ion channel binding|IPI; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0042803|F:protein homodimerization activity|IMP; GO:0031432|F:titin binding|IPI; GO:0070080|F:titin Z domain binding|IMP; GO:0048041|P:focal adhesion assembly|IMP; GO:0030035|P:microspike assembly|IDA; GO:2000009|P:negative regulation of protein localization to cell surface|IMP; GO:2001137|P:positive regulation of endocytic recycling|IMP; GO:0051289|P:protein homotetramerization|IDA; GO:0045214|P:sarcomere organization|IMP',NULL,NULL,NULL,NULL,NULL),(139861,'Experimental MF/BP Leaf Term GOA',NULL,15713,NULL,'GO:0090409|F:malonyl-CoA synthetase activity|IDA; GO:0031957|F:very long-chain fatty acid-CoA ligase activity|IDA; GO:0090410|P:malonate catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139862,'Experimental MF/BP Leaf Term GOA',NULL,15714,NULL,'GO:0051089|P:constitutive protein ectodomain proteolysis|IDA; GO:0051088|P:PMA-inducible membrane protein ectodomain proteolysis|IMP; GO:0010820|P:positive regulation of T cell chemotaxis|IMP',NULL,NULL,NULL,NULL,NULL),(139863,'Experimental MF/BP Leaf Term GOA',NULL,15715,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0030507|F:spectrin binding|IDA; GO:0051016|P:barbed-end actin filament capping|IDA; GO:0050901|P:leukocyte tethering or rolling|IMP',NULL,NULL,NULL,NULL,NULL),(139864,'Experimental MF/BP Leaf Term GOA',NULL,15717,NULL,'GO:0051537|F:2 iron, 2 sulfur cluster binding|IDA',NULL,NULL,NULL,NULL,NULL),(139865,'Experimental MF/BP Leaf Term GOA',NULL,15718,NULL,'GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(139866,'Experimental MF/BP Leaf Term GOA',NULL,15719,NULL,'GO:0001890|P:placenta development|IEP; GO:2000049|P:positive regulation of cell-cell adhesion mediated by cadherin|IDA',NULL,NULL,NULL,NULL,NULL),(139867,'Experimental MF/BP Leaf Term GOA',NULL,15728,NULL,'GO:0006171|P:cAMP biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139868,'Experimental MF/BP Leaf Term GOA',NULL,15731,NULL,'GO:0015052|F:beta3-adrenergic receptor activity|IMP; GO:0042803|F:protein homodimerization activity|IDA; GO:0007190|P:activation of adenylate cyclase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139869,'Experimental MF/BP Leaf Term GOA',NULL,15735,NULL,'GO:0002042|P:cell migration involved in sprouting angiogenesis|IMP; GO:0140052|P:cellular response to oxidised low-density lipoprotein particle stimulus|IMP; GO:0003332|P:negative regulation of extracellular matrix constituent secretion|IMP; GO:0043491|P:protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(139870,'Experimental MF/BP Leaf Term GOA',NULL,15743,NULL,'GO:0003987|F:acetate-CoA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139871,'Experimental MF/BP Leaf Term GOA',NULL,15745,NULL,'GO:0048185|F:activin binding|IDA; GO:0016361|F:activin receptor activity, type I|IDA; GO:0005524|F:ATP binding|IDA; GO:0098821|F:BMP receptor activity|IMP; GO:0050431|F:transforming growth factor beta binding|IPI; GO:0005025|F:transforming growth factor beta receptor activity, type I|IDA; GO:0071773|P:cellular response to BMP stimulus|IMP; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:0060836|P:lymphatic endothelial cell differentiation|IMP; GO:0051895|P:negative regulation of focal adhesion assembly|IMP; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IMP; GO:0035313|P:wound healing, spreading of epidermal cells|IMP',NULL,NULL,NULL,NULL,NULL),(139872,'Experimental MF/BP Leaf Term GOA',NULL,15746,NULL,'GO:2000210|P:positive regulation of anoikis|IMP',NULL,NULL,NULL,NULL,NULL),(139873,'Experimental MF/BP Leaf Term GOA',NULL,15750,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139874,'Experimental MF/BP Leaf Term GOA',NULL,15751,NULL,'GO:0005524|F:ATP binding|IDA; GO:2000773|P:negative regulation of cellular senescence|IMP; GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IMP; GO:1905564|P:positive regulation of vascular endothelial cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(139875,'Experimental MF/BP Leaf Term GOA',NULL,15752,NULL,'GO:0001758|F:retinal dehydrogenase activity|IDA; GO:0071395|P:cellular response to jasmonic acid stimulus|IDA; GO:0044598|P:doxorubicin metabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(139876,'Experimental MF/BP Leaf Term GOA',NULL,15756,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0048041|P:focal adhesion assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139877,'Experimental MF/BP Leaf Term GOA',NULL,15757,NULL,'GO:0016361|F:activin receptor activity, type I|IDA; GO:0038100|F:nodal binding|IMP; GO:0030262|P:apoptotic nuclear changes|IDA; GO:1901383|P:negative regulation of chorionic trophoblast cell proliferation|IMP; GO:1901164|P:negative regulation of trophoblast cell migration|IDA',NULL,NULL,NULL,NULL,NULL),(139878,'Experimental MF/BP Leaf Term GOA',NULL,15758,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0030507|F:spectrin binding|IDA; GO:0051016|P:barbed-end actin filament capping|IDA; GO:0071277|P:cellular response to calcium ion|IDA; GO:1903142|P:positive regulation of establishment of endothelial barrier|IDA',NULL,NULL,NULL,NULL,NULL),(139879,'Experimental MF/BP Leaf Term GOA',NULL,15760,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0006154|P:adenosine catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139880,'Experimental MF/BP Leaf Term GOA',NULL,15761,NULL,'GO:0007098|P:centrosome cycle|IMP; GO:0035735|P:intraciliary transport involved in cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(139881,'Experimental MF/BP Leaf Term GOA',NULL,15763,NULL,'GO:0008431|F:vitamin E binding|IDA; GO:0050821|P:protein stabilization|IDA; GO:0071693|P:protein transport within extracellular region|IMP',NULL,NULL,NULL,NULL,NULL),(139882,'Experimental MF/BP Leaf Term GOA',NULL,15769,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139883,'Experimental MF/BP Leaf Term GOA',NULL,15770,NULL,'GO:0008013|F:beta-catenin binding|IPI',NULL,NULL,NULL,NULL,NULL),(139884,'Experimental MF/BP Leaf Term GOA',NULL,15773,NULL,'GO:0014037|P:Schwann cell differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(139885,'Experimental MF/BP Leaf Term GOA',NULL,15774,NULL,'GO:0005044|F:scavenger receptor activity|IMP',NULL,NULL,NULL,NULL,NULL),(139886,'Experimental MF/BP Leaf Term GOA',NULL,15775,NULL,'GO:0004778|F:succinyl-CoA hydrolase activity|IDA; GO:0032788|P:saturated monocarboxylic acid metabolic process|IDA; GO:0032789|P:unsaturated monocarboxylic acid metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139887,'Experimental MF/BP Leaf Term GOA',NULL,15777,NULL,'GO:0005537|F:mannose binding|IDA; GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0007340|P:acrosome reaction|IMP; GO:0007190|P:activation of adenylate cyclase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139888,'Experimental MF/BP Leaf Term GOA',NULL,15778,NULL,'GO:0016361|F:activin receptor activity, type I|IDA; GO:0005524|F:ATP binding|IDA; GO:0034711|F:inhibin binding|IPI; GO:0000082|P:G1/S transition of mitotic cell cycle|IDA; GO:1901165|P:positive regulation of trophoblast cell migration|IDA',NULL,NULL,NULL,NULL,NULL),(139889,'Experimental MF/BP Leaf Term GOA',NULL,15780,NULL,'GO:0008270|F:zinc ion binding|IMP; GO:0006154|P:adenosine catabolic process|IDA; GO:0060169|P:negative regulation of adenosine receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139890,'Experimental MF/BP Leaf Term GOA',NULL,15781,NULL,'GO:0005080|F:protein kinase C binding|IDA',NULL,NULL,NULL,NULL,NULL),(139891,'Experimental MF/BP Leaf Term GOA',NULL,15785,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139892,'Experimental MF/BP Leaf Term GOA',NULL,15792,NULL,'GO:0033791|F:3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|IDA; GO:0033540|P:fatty acid beta-oxidation using acyl-CoA oxidase|IDA',NULL,NULL,NULL,NULL,NULL),(139893,'Experimental MF/BP Leaf Term GOA',NULL,15793,NULL,'GO:0051289|P:protein homotetramerization|IPI',NULL,NULL,NULL,NULL,NULL),(139894,'Experimental MF/BP Leaf Term GOA',NULL,15795,NULL,'GO:0047676|F:arachidonate-CoA ligase activity|IDA; GO:0031957|F:very long-chain fatty acid-CoA ligase activity|IMP; GO:0032307|P:negative regulation of prostaglandin secretion|IDA',NULL,NULL,NULL,NULL,NULL),(139895,'Experimental MF/BP Leaf Term GOA',NULL,15797,NULL,'GO:0042169|F:SH2 domain binding|IPI; GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(139896,'Experimental MF/BP Leaf Term GOA',NULL,15799,NULL,'GO:0035374|F:chondroitin sulfate binding|IMP',NULL,NULL,NULL,NULL,NULL),(139897,'Experimental MF/BP Leaf Term GOA',NULL,15803,NULL,'GO:0030317|P:flagellated sperm motility|IMP',NULL,NULL,NULL,NULL,NULL),(139898,'Experimental MF/BP Leaf Term GOA',NULL,15805,NULL,'GO:0004768|F:stearoyl-CoA 9-desaturase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139899,'Experimental MF/BP Leaf Term GOA',NULL,15807,NULL,'GO:0003987|F:acetate-CoA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139900,'Experimental MF/BP Leaf Term GOA',NULL,15808,NULL,'GO:0003996|F:acyl-CoA ligase activity|IDA; GO:0047760|F:butyrate-CoA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139901,'Experimental MF/BP Leaf Term GOA',NULL,15812,NULL,'GO:0003875|F:ADP-ribosylarginine hydrolase activity|IMP; GO:0000287|F:magnesium ion binding|IDA; GO:0030955|F:potassium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(139902,'Experimental MF/BP Leaf Term GOA',NULL,15815,NULL,'GO:0071890|F:bicarbonate binding|IDA; GO:0006171|P:cAMP biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139903,'Experimental MF/BP Leaf Term GOA',NULL,15816,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1901029|P:negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139904,'Experimental MF/BP Leaf Term GOA',NULL,15818,NULL,'GO:0035198|F:miRNA binding|IDA; GO:0035280|P:miRNA loading onto RISC involved in gene silencing by miRNA|IDA; GO:0035278|P:miRNA mediated inhibition of translation|IDA; GO:0031054|P:pre-miRNA processing|IDA; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IMP; GO:0010501|P:RNA secondary structure unwinding|IDA',NULL,NULL,NULL,NULL,NULL),(139905,'Experimental MF/BP Leaf Term GOA',NULL,15819,NULL,'GO:0072719|P:cellular response to cisplatin|IDA',NULL,NULL,NULL,NULL,NULL),(139906,'Experimental MF/BP Leaf Term GOA',NULL,15823,NULL,'GO:0047086|F:ketosteroid monooxygenase activity|IDA; GO:0018636|F:phenanthrene 9,10-monooxygenase activity|IDA; GO:0047115|F:trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity|IDA; GO:0071395|P:cellular response to jasmonic acid stimulus|IDA; GO:0071799|P:cellular response to prostaglandin D stimulus|IDA; GO:0044598|P:doxorubicin metabolic process|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(139907,'Experimental MF/BP Leaf Term GOA',NULL,15824,NULL,'GO:0036004|F:GAF domain binding|IDA; GO:0051082|F:unfolded protein binding|IDA; GO:0022417|P:protein maturation by protein folding|IDA; GO:0006626|P:protein targeting to mitochondrion|IDA',NULL,NULL,NULL,NULL,NULL),(139908,'Experimental MF/BP Leaf Term GOA',NULL,15825,NULL,'GO:0050998|F:nitric-oxide synthase binding|IPI; GO:0098973|F:structural constituent of postsynaptic actin cytoskeleton|IDA; GO:0030957|F:Tat protein binding|IPI; GO:0072749|P:cellular response to cytochalasin B|IMP; GO:0098974|P:postsynaptic actin cytoskeleton organization|IDA',NULL,NULL,NULL,NULL,NULL),(139909,'Experimental MF/BP Leaf Term GOA',NULL,15828,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0033691|F:sialic acid binding|IDA; GO:0034383|P:low-density lipoprotein particle clearance|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:0034115|P:negative regulation of heterotypic cell-cell adhesion|IDA; GO:0045715|P:negative regulation of low-density lipoprotein particle receptor biosynthetic process|IDA; GO:0010745|P:negative regulation of macrophage derived foam cell differentiation|IDA; GO:0010804|P:negative regulation of tumor necrosis factor-mediated signaling pathway|IDA; GO:1904753|P:negative regulation of vascular associated smooth muscle cell migration|IDA; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IDA; GO:2000481|P:positive regulation of cAMP-dependent protein kinase activity|IDA; GO:0010875|P:positive regulation of cholesterol efflux|IDA; GO:0071639|P:positive regulation of monocyte chemotactic protein-1 production|IDA; GO:0010739|P:positive regulation of protein kinase A signaling|IDA; GO:2000534|P:positive regulation of renal albumin absorption|IDA',NULL,NULL,NULL,NULL,NULL),(139910,'Experimental MF/BP Leaf Term GOA',NULL,15830,NULL,'GO:0070577|F:lysine-acetylated histone binding|IDA; GO:2000096|P:positive regulation of Wnt signaling pathway, planar cell polarity pathway|IGI',NULL,NULL,NULL,NULL,NULL),(139911,'Experimental MF/BP Leaf Term GOA',NULL,15832,NULL,'GO:0033173|P:calcineurin-NFAT signaling cascade|IMP',NULL,NULL,NULL,NULL,NULL),(139912,'Experimental MF/BP Leaf Term GOA',NULL,15834,NULL,'GO:0002162|F:dystroglycan binding|IDA; GO:0042803|F:protein homodimerization activity|IMP; GO:1903896|P:positive regulation of IRE1-mediated unfolded protein response|IDA; GO:1903899|P:positive regulation of PERK-mediated unfolded protein response|IDA',NULL,NULL,NULL,NULL,NULL),(139913,'Experimental MF/BP Leaf Term GOA',NULL,15835,NULL,'GO:0004174|F:electron-transferring-flavoprotein dehydrogenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139914,'Experimental MF/BP Leaf Term GOA',NULL,15836,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:1900025|P:negative regulation of substrate adhesion-dependent cell spreading|IMP; GO:0035357|P:peroxisome proliferator activated receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139915,'Experimental MF/BP Leaf Term GOA',NULL,15837,NULL,'GO:0004024|F:alcohol dehydrogenase activity, zinc-dependent|EXP; GO:0006069|P:ethanol oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(139916,'Experimental MF/BP Leaf Term GOA',NULL,15838,NULL,'GO:0005080|F:protein kinase C binding|IDA; GO:0006171|P:cAMP biosynthetic process|IDA; GO:1904322|P:cellular response to forskolin|IDA; GO:0071380|P:cellular response to prostaglandin E stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(139917,'Experimental MF/BP Leaf Term GOA',NULL,15841,NULL,'GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IDA',NULL,NULL,NULL,NULL,NULL),(139918,'Experimental MF/BP Leaf Term GOA',NULL,15843,NULL,'GO:0034237|F:protein kinase A regulatory subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(139919,'Experimental MF/BP Leaf Term GOA',NULL,15844,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0006488|P:dolichol-linked oligosaccharide biosynthetic process|IGI',NULL,NULL,NULL,NULL,NULL),(139920,'Experimental MF/BP Leaf Term GOA',NULL,15845,NULL,'GO:0070061|F:fructose binding|IDA; GO:0004332|F:fructose-bisphosphate aldolase activity|IDA; GO:0007339|P:binding of sperm to zona pellucida|IMP; GO:0030388|P:fructose 1,6-bisphosphate metabolic process|IDA; GO:0046716|P:muscle cell cellular homeostasis|IMP',NULL,NULL,NULL,NULL,NULL),(139921,'Experimental MF/BP Leaf Term GOA',NULL,15848,NULL,'GO:0031696|F:alpha-2C adrenergic receptor binding|IPI; GO:0004938|F:alpha2-adrenergic receptor activity|IDA; GO:0051379|F:epinephrine binding|IDA; GO:0032795|F:heterotrimeric G-protein binding|IDA; GO:0051380|F:norepinephrine binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0031996|F:thioesterase binding|IPI; GO:0032148|P:activation of protein kinase B activity|IDA; GO:0061179|P:negative regulation of insulin secretion involved in cellular response to glucose stimulus|IMP; GO:0071882|P:phospholipase C-activating adrenergic receptor signaling pathway|IDA; GO:0045741|P:positive regulation of epidermal growth factor-activated receptor activity|IDA; GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IDA; GO:0035624|P:receptor transactivation|IDA',NULL,NULL,NULL,NULL,NULL),(139922,'Experimental MF/BP Leaf Term GOA',NULL,15850,NULL,'GO:0017124|F:SH3 domain binding|IPI; GO:0033631|P:cell-cell adhesion mediated by integrin|IEP; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0051088|P:PMA-inducible membrane protein ectodomain proteolysis|IDA; GO:0051549|P:positive regulation of keratinocyte migration|IMP; GO:0034241|P:positive regulation of macrophage fusion|IMP',NULL,NULL,NULL,NULL,NULL),(139923,'Experimental MF/BP Leaf Term GOA',NULL,15851,NULL,'GO:0004024|F:alcohol dehydrogenase activity, zinc-dependent|IDA; GO:0005503|F:all-trans retinal binding|IDA; GO:0019115|F:benzaldehyde dehydrogenase activity|IDA; GO:0004745|F:retinol dehydrogenase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0006069|P:ethanol oxidation|IDA; GO:0042572|P:retinol metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139924,'Experimental MF/BP Leaf Term GOA',NULL,15853,NULL,'GO:0047020|F:15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity|IDA; GO:0047787|F:delta4-3-oxosteroid 5beta-reductase activity|IDA; GO:0035410|F:dihydrotestosterone 17-beta-dehydrogenase activity|IDA; GO:0045550|F:geranylgeranyl reductase activity|IDA; GO:0045703|F:ketoreductase activity|IDA; GO:0047086|F:ketosteroid monooxygenase activity|IDA; GO:0018636|F:phenanthrene 9,10-monooxygenase activity|IDA; GO:0001758|F:retinal dehydrogenase activity|IDA; GO:0004745|F:retinol dehydrogenase activity|IDA; GO:0071276|P:cellular response to cadmium ion|IDA; GO:0071277|P:cellular response to calcium ion|IDA; GO:0071395|P:cellular response to jasmonic acid stimulus|IDA; GO:0071799|P:cellular response to prostaglandin D stimulus|IDA; GO:0044598|P:doxorubicin metabolic process|IMP; GO:0016488|P:farnesol catabolic process|IDA; GO:0008584|P:male gonad development|IEP; GO:1900053|P:negative regulation of retinoic acid biosynthetic process|IDA; GO:2000353|P:positive regulation of endothelial cell apoptotic process|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:0000060|P:protein import into nucleus, translocation|IDA; GO:0042574|P:retinal metabolic process|IDA; GO:0061370|P:testosterone biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(139925,'Experimental MF/BP Leaf Term GOA',NULL,15855,NULL,'GO:0004043|F:L-aminoadipate-semialdehyde dehydrogenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(139926,'Experimental MF/BP Leaf Term GOA',NULL,15856,NULL,'GO:0051087|F:chaperone binding|IDA; GO:0051879|F:Hsp90 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(139927,'Experimental MF/BP Leaf Term GOA',NULL,15860,NULL,'GO:0004024|F:alcohol dehydrogenase activity, zinc-dependent|EXP; GO:0006069|P:ethanol oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(139928,'Experimental MF/BP Leaf Term GOA',NULL,15863,NULL,'GO:0007420|P:brain development|IMP',NULL,NULL,NULL,NULL,NULL),(139929,'Experimental MF/BP Leaf Term GOA',NULL,15864,NULL,'GO:0043277|P:apoptotic cell clearance|IMP; GO:0043652|P:engulfment of apoptotic cell|IMP',NULL,NULL,NULL,NULL,NULL),(139930,'Experimental MF/BP Leaf Term GOA',NULL,15867,NULL,'GO:0042826|F:histone deacetylase binding|IDA; GO:0034237|F:protein kinase A regulatory subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(139931,'Experimental MF/BP Leaf Term GOA',NULL,15868,NULL,'GO:0018479|F:benzaldehyde dehydrogenase (NAD+) activity|IDA',NULL,NULL,NULL,NULL,NULL),(139932,'Experimental MF/BP Leaf Term GOA',NULL,15870,NULL,'GO:0050544|F:arachidonic acid binding|IDA; GO:0071277|P:cellular response to calcium ion|IDA; GO:0070207|P:protein homotrimerization|IPI',NULL,NULL,NULL,NULL,NULL),(139933,'Experimental MF/BP Leaf Term GOA',NULL,15871,NULL,'GO:0031694|F:alpha-2A adrenergic receptor binding|IPI; GO:0030165|F:PDZ domain binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(139934,'Experimental MF/BP Leaf Term GOA',NULL,15872,NULL,'GO:0070830|P:bicellular tight junction assembly|IMP; GO:0090557|P:establishment of endothelial intestinal barrier|IMP; GO:2000049|P:positive regulation of cell-cell adhesion mediated by cadherin|IMP',NULL,NULL,NULL,NULL,NULL),(139935,'Experimental MF/BP Leaf Term GOA',NULL,15876,NULL,'GO:0044548|F:S100 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(139936,'Experimental MF/BP Leaf Term GOA',NULL,15877,NULL,'GO:0001918|F:farnesylated protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(139937,'Experimental MF/BP Leaf Term GOA',NULL,15878,NULL,'GO:0045022|P:early endosome to late endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(139938,'Experimental MF/BP Leaf Term GOA',NULL,15880,NULL,'GO:0045550|F:geranylgeranyl reductase activity|IDA; GO:0047718|F:indanol dehydrogenase activity|IDA; GO:0001758|F:retinal dehydrogenase activity|IDA; GO:0044598|P:doxorubicin metabolic process|IMP; GO:0016488|P:farnesol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139939,'Experimental MF/BP Leaf Term GOA',NULL,15881,NULL,'GO:0021915|P:neural tube development|IMP',NULL,NULL,NULL,NULL,NULL),(139940,'Experimental MF/BP Leaf Term GOA',NULL,15885,NULL,'GO:0035063|P:nuclear speck organization|IMP',NULL,NULL,NULL,NULL,NULL),(139941,'Experimental MF/BP Leaf Term GOA',NULL,15887,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0030170|F:pyridoxal phosphate binding|IDA; GO:0015643|F:toxic substance binding|IDA; GO:0019836|P:hemolysis by symbiont of host erythrocytes|IDA; GO:0051659|P:maintenance of mitochondrion location|IDA',NULL,NULL,NULL,NULL,NULL),(139942,'Experimental MF/BP Leaf Term GOA',NULL,15888,NULL,'GO:0004332|F:fructose-bisphosphate aldolase activity|IDA; GO:0030388|P:fructose 1,6-bisphosphate metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139943,'Experimental MF/BP Leaf Term GOA',NULL,15893,NULL,'GO:0004610|F:phosphoacetylglucosamine mutase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139944,'Experimental MF/BP Leaf Term GOA',NULL,15896,NULL,'GO:0035198|F:miRNA binding|IDA; GO:0035280|P:miRNA loading onto RISC involved in gene silencing by miRNA|IDA; GO:0035278|P:miRNA mediated inhibition of translation|IDA; GO:0031054|P:pre-miRNA processing|IDA; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IMP; GO:0010501|P:RNA secondary structure unwinding|IDA',NULL,NULL,NULL,NULL,NULL),(139945,'Experimental MF/BP Leaf Term GOA',NULL,15898,NULL,'GO:0001596|F:angiotensin type I receptor activity|IDA; GO:0004945|F:angiotensin type II receptor activity|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:1903589|P:positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IGI; GO:0010873|P:positive regulation of cholesterol esterification|IMP; GO:0051482|P:positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139946,'Experimental MF/BP Leaf Term GOA',NULL,15899,NULL,'GO:0004021|F:L-alanine:2-oxoglutarate aminotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139947,'Experimental MF/BP Leaf Term GOA',NULL,15901,NULL,'GO:0034237|F:protein kinase A regulatory subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(139948,'Experimental MF/BP Leaf Term GOA',NULL,15904,NULL,'GO:0043843|F:ADP-specific glucokinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139949,'Experimental MF/BP Leaf Term GOA',NULL,15905,NULL,'GO:0008897|F:holo-[acyl-carrier-protein] synthase activity|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(139950,'Experimental MF/BP Leaf Term GOA',NULL,15906,NULL,'GO:0090624|F:endoribonuclease activity, cleaving miRNA-paired mRNA|IDA; GO:0070551|F:endoribonuclease activity, cleaving siRNA-paired mRNA|IDA; GO:0035198|F:miRNA binding|IDA; GO:0098808|F:mRNA cap binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0000340|F:RNA 7-methylguanosine cap binding|IDA; GO:0035197|F:siRNA binding|IDA; GO:0035280|P:miRNA loading onto RISC involved in gene silencing by miRNA|IDA; GO:0035278|P:miRNA mediated inhibition of translation|IDA; GO:0035279|P:mRNA cleavage involved in gene silencing by miRNA|IDA; GO:0090625|P:mRNA cleavage involved in gene silencing by siRNA|IDA; GO:1905618|P:positive regulation of miRNA mediated inhibition of translation|IDA; GO:1901165|P:positive regulation of trophoblast cell migration|IMP; GO:0031054|P:pre-miRNA processing|IDA; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IDA; GO:0010501|P:RNA secondary structure unwinding|IDA; GO:0035087|P:siRNA loading onto RISC involved in RNA interference|IDA',NULL,NULL,NULL,NULL,NULL),(139951,'Experimental MF/BP Leaf Term GOA',NULL,15907,NULL,'GO:0004001|F:adenosine kinase activity|EXP',NULL,NULL,NULL,NULL,NULL),(139952,'Experimental MF/BP Leaf Term GOA',NULL,15909,NULL,'GO:0090624|F:endoribonuclease activity, cleaving miRNA-paired mRNA|IMP; GO:0035198|F:miRNA binding|IDA; GO:0035280|P:miRNA loading onto RISC involved in gene silencing by miRNA|IDA; GO:0035278|P:miRNA mediated inhibition of translation|IDA; GO:0031054|P:pre-miRNA processing|IDA; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IMP; GO:0010501|P:RNA secondary structure unwinding|IDA',NULL,NULL,NULL,NULL,NULL),(139953,'Experimental MF/BP Leaf Term GOA',NULL,15910,NULL,'GO:0051879|F:Hsp90 protein binding|IDA; GO:0004879|F:nuclear receptor activity|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0017025|F:TBP-class protein binding|IPI; GO:0001094|F:TFIID-class transcription factor complex binding|IPI; GO:1904613|P:cellular response to 2,3,7,8-tetrachlorodibenzodioxine|IDA; GO:0071320|P:cellular response to cAMP|IDA; GO:1904322|P:cellular response to forskolin|IDA',NULL,NULL,NULL,NULL,NULL),(139954,'Experimental MF/BP Leaf Term GOA',NULL,15913,NULL,'GO:0050702|P:interleukin-1 beta secretion|IMP; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:0070269|P:pyroptosis|IDA',NULL,NULL,NULL,NULL,NULL),(139955,'Experimental MF/BP Leaf Term GOA',NULL,15914,NULL,'GO:0071320|P:cellular response to cAMP|IDA; GO:1902261|P:positive regulation of delayed rectifier potassium channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139956,'Experimental MF/BP Leaf Term GOA',NULL,15915,NULL,'GO:0003842|F:1-pyrroline-5-carboxylate dehydrogenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(139957,'Experimental MF/BP Leaf Term GOA',NULL,15917,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:1904713|F:beta-catenin destruction complex binding|IPI; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(139958,'Experimental MF/BP Leaf Term GOA',NULL,15918,NULL,'GO:1904288|F:BAT3 complex binding|IDA; GO:0051087|F:chaperone binding|IPI; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0034450|F:ubiquitin-ubiquitin ligase activity|IDA; GO:0051865|P:protein autoubiquitination|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139959,'Experimental MF/BP Leaf Term GOA',NULL,15919,NULL,'GO:0006123|P:mitochondrial electron transport, cytochrome c to oxygen|IMP; GO:0035694|P:mitochondrial protein catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(139960,'Experimental MF/BP Leaf Term GOA',NULL,15920,NULL,'GO:0008201|F:heparin binding|IDA; GO:0007420|P:brain development|IMP; GO:0070528|P:protein kinase C signaling|IDA; GO:0010573|P:vascular endothelial growth factor production|IDA',NULL,NULL,NULL,NULL,NULL),(139961,'Experimental MF/BP Leaf Term GOA',NULL,15922,NULL,'GO:0045792|P:negative regulation of cell size|IDA',NULL,NULL,NULL,NULL,NULL),(139962,'Experimental MF/BP Leaf Term GOA',NULL,15924,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0002509|P:central tolerance induction to self antigen|IMP',NULL,NULL,NULL,NULL,NULL),(139963,'Experimental MF/BP Leaf Term GOA',NULL,15926,NULL,'GO:0043734|F:DNA-N1-methyladenine dioxygenase activity|IDA; GO:0008198|F:ferrous iron binding|IDA; GO:1990930|F:RNA N1-methyladenosine dioxygenase activity|IDA; GO:0006307|P:DNA dealkylation involved in DNA repair|IDA; GO:0035552|P:oxidative single-stranded DNA demethylation|IDA; GO:0035553|P:oxidative single-stranded RNA demethylation|IDA',NULL,NULL,NULL,NULL,NULL),(139964,'Experimental MF/BP Leaf Term GOA',NULL,15927,NULL,'GO:0008111|F:alpha-methylacyl-CoA racemase activity|IDA',NULL,NULL,NULL,NULL,NULL),(139965,'Experimental MF/BP Leaf Term GOA',NULL,15934,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139966,'Experimental MF/BP Leaf Term GOA',NULL,15937,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0071320|P:cellular response to cAMP|IDA; GO:1902261|P:positive regulation of delayed rectifier potassium channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139967,'Experimental MF/BP Leaf Term GOA',NULL,15942,NULL,'GO:0047042|F:androsterone dehydrogenase (B-specific) activity|IDA; GO:0047086|F:ketosteroid monooxygenase activity|IDA; GO:0018636|F:phenanthrene 9,10-monooxygenase activity|IDA; GO:0047115|F:trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity|IDA; GO:0071395|P:cellular response to jasmonic acid stimulus|IDA; GO:0044598|P:doxorubicin metabolic process|IMP; GO:0042574|P:retinal metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139968,'Experimental MF/BP Leaf Term GOA',NULL,15944,NULL,'GO:0051747|F:cytosine C-5 DNA demethylase activity|IDA; GO:0043734|F:DNA-N1-methyladenine dioxygenase activity|IDA; GO:0008198|F:ferrous iron binding|IDA; GO:0006307|P:DNA dealkylation involved in DNA repair|IDA',NULL,NULL,NULL,NULL,NULL),(139969,'Experimental MF/BP Leaf Term GOA',NULL,15946,NULL,'GO:1902445|P:regulation of mitochondrial membrane permeability involved in programmed necrotic cell death|IMP',NULL,NULL,NULL,NULL,NULL),(139970,'Experimental MF/BP Leaf Term GOA',NULL,15948,NULL,'GO:0002162|F:dystroglycan binding|IDA',NULL,NULL,NULL,NULL,NULL),(139971,'Experimental MF/BP Leaf Term GOA',NULL,15950,NULL,'GO:0004126|F:cytidine deaminase activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0090310|P:negative regulation of methylation-dependent chromatin silencing|IDA',NULL,NULL,NULL,NULL,NULL),(139972,'Experimental MF/BP Leaf Term GOA',NULL,15952,NULL,'GO:0004945|F:angiotensin type II receptor activity|IPI; GO:0051387|P:negative regulation of neurotrophin TRK receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(139973,'Experimental MF/BP Leaf Term GOA',NULL,15953,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0034237|F:protein kinase A regulatory subunit binding|IPI; GO:0071320|P:cellular response to cAMP|IMP; GO:0051661|P:maintenance of centrosome location|IMP; GO:0098909|P:regulation of cardiac muscle cell action potential involved in regulation of contraction|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(139974,'Experimental MF/BP Leaf Term GOA',NULL,15960,NULL,'GO:0004598|F:peptidylamidoglycolate lyase activity|IDA; GO:0004504|F:peptidylglycine monooxygenase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0001519|P:peptide amidation|IDA',NULL,NULL,NULL,NULL,NULL),(139975,'Experimental MF/BP Leaf Term GOA',NULL,15962,NULL,'GO:0005524|F:ATP binding|IDA; GO:0032869|P:cellular response to insulin stimulus|IMP; GO:0010748|P:negative regulation of plasma membrane long-chain fatty acid transport|IMP; GO:0046326|P:positive regulation of glucose import|IMP; GO:0045725|P:positive regulation of glycogen biosynthetic process|IMP; GO:0010918|P:positive regulation of mitochondrial membrane potential|IMP',NULL,NULL,NULL,NULL,NULL),(139976,'Experimental MF/BP Leaf Term GOA',NULL,15965,NULL,'GO:0005497|F:androgen binding|IDA; GO:0004882|F:androgen receptor activity|IDA; GO:0051117|F:ATPase binding|IDA; GO:0008013|F:beta-catenin binding|IDA; GO:0004879|F:nuclear receptor activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0045945|P:positive regulation of transcription by RNA polymerase III|IDA',NULL,NULL,NULL,NULL,NULL),(139977,'Experimental MF/BP Leaf Term GOA',NULL,15966,NULL,'GO:0004383|F:guanylate cyclase activity|IDA; GO:0016941|F:natriuretic peptide receptor activity|IDA; GO:0097011|P:cellular response to granulocyte macrophage colony-stimulating factor stimulus|IEP; GO:0006182|P:cGMP biosynthetic process|IDA; GO:0007168|P:receptor guanylyl cyclase signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139978,'Experimental MF/BP Leaf Term GOA',NULL,15967,NULL,'GO:0005544|F:calcium-dependent phospholipid binding|IDA; GO:0019834|F:phospholipase A2 inhibitor activity|IDA; GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IDA; GO:0002548|P:monocyte chemotaxis|IDA; GO:2000483|P:negative regulation of interleukin-8 secretion|IMP; GO:0045629|P:negative regulation of T-helper 2 cell differentiation|IDA; GO:0097350|P:neutrophil clearance|IMP; GO:0001780|P:neutrophil homeostasis|IMP; GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IDA; GO:0045627|P:positive regulation of T-helper 1 cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(139979,'Experimental MF/BP Leaf Term GOA',NULL,15969,NULL,'GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(139980,'Experimental MF/BP Leaf Term GOA',NULL,15973,NULL,'GO:0046577|F:long-chain-alcohol oxidase activity|IDA; GO:0050061|F:long-chain-aldehyde dehydrogenase activity|IDA; GO:0052814|F:medium-chain-aldehyde dehydrogenase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0007417|P:central nervous system development|IMP; GO:0007422|P:peripheral nervous system development|IMP',NULL,NULL,NULL,NULL,NULL),(139981,'Experimental MF/BP Leaf Term GOA',NULL,15974,NULL,'GO:0008179|F:adenylate cyclase binding|IPI',NULL,NULL,NULL,NULL,NULL),(139982,'Experimental MF/BP Leaf Term GOA',NULL,15975,NULL,'GO:0006488|P:dolichol-linked oligosaccharide biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139983,'Experimental MF/BP Leaf Term GOA',NULL,15976,NULL,'GO:0051117|F:ATPase binding|IDA; GO:0070061|F:fructose binding|IMP; GO:0061609|F:fructose-1-phosphate aldolase activity|IDA; GO:0004332|F:fructose-bisphosphate aldolase activity|IDA; GO:0030388|P:fructose 1,6-bisphosphate metabolic process|IDA; GO:0070072|P:vacuolar proton-transporting V-type ATPase complex assembly|IGI',NULL,NULL,NULL,NULL,NULL),(139984,'Experimental MF/BP Leaf Term GOA',NULL,15980,NULL,'GO:0006182|P:cGMP biosynthetic process|IDA; GO:1902261|P:positive regulation of delayed rectifier potassium channel activity|IDA; GO:1903766|P:positive regulation of potassium ion export across plasma membrane|IDA; GO:0007168|P:receptor guanylyl cyclase signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139985,'Experimental MF/BP Leaf Term GOA',NULL,15981,NULL,'GO:0030345|F:structural constituent of tooth enamel|IDA; GO:0070166|P:enamel mineralization|IMP',NULL,NULL,NULL,NULL,NULL),(139986,'Experimental MF/BP Leaf Term GOA',NULL,15983,NULL,'GO:0008190|F:eukaryotic initiation factor 4E binding|IDA',NULL,NULL,NULL,NULL,NULL),(139987,'Experimental MF/BP Leaf Term GOA',NULL,15985,NULL,'GO:0008201|F:heparin binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0007202|P:activation of phospholipase C activity|IMP; GO:0032148|P:activation of protein kinase B activity|IMP; GO:0019732|P:antifungal humoral response|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0006651|P:diacylglycerol biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(139988,'Experimental MF/BP Leaf Term GOA',NULL,15986,NULL,'GO:0005229|F:intracellular calcium activated chloride channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(139989,'Experimental MF/BP Leaf Term GOA',NULL,15987,NULL,'GO:0034058|P:endosomal vesicle fusion|IDA; GO:0090160|P:Golgi to lysosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(139990,'Experimental MF/BP Leaf Term GOA',NULL,15988,NULL,'GO:0035243|F:protein-arginine omega-N symmetric methyltransferase activity|IMP',NULL,NULL,NULL,NULL,NULL),(139991,'Experimental MF/BP Leaf Term GOA',NULL,15989,NULL,'GO:0051537|F:2 iron, 2 sulfur cluster binding|IDA; GO:0043546|F:molybdopterin cofactor binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(139992,'Experimental MF/BP Leaf Term GOA',NULL,15991,NULL,'GO:0071889|F:14-3-3 protein binding|IPI; GO:0005524|F:ATP binding|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0006924|P:activation-induced cell death of T cells|IMP; GO:0002042|P:cell migration involved in sprouting angiogenesis|IMP; GO:0071276|P:cellular response to cadmium ion|IMP; GO:0032869|P:cellular response to insulin stimulus|IMP; GO:0140052|P:cellular response to oxidised low-density lipoprotein particle stimulus|IMP; GO:0071356|P:cellular response to tumor necrosis factor|IMP; GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IMP; GO:0048009|P:insulin-like growth factor receptor signaling pathway|IMP; GO:0035655|P:interleukin-18-mediated signaling pathway|IDA; GO:0072656|P:maintenance of protein location in mitochondrion|IMP; GO:0010748|P:negative regulation of plasma membrane long-chain fatty acid transport|IMP; GO:0038061|P:NIK/NF-kappaB signaling|IMP; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IMP; GO:0032079|P:positive regulation of endodeoxyribonuclease activity|IDA; GO:0046326|P:positive regulation of glucose import|IMP; GO:0045725|P:positive regulation of glycogen biosynthetic process|IMP; GO:1903721|P:positive regulation of I-kappaB phosphorylation|IMP; GO:0010918|P:positive regulation of mitochondrial membrane potential|IMP; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IMP; GO:0051000|P:positive regulation of nitric-oxide synthase activity|IMP; GO:0000060|P:protein import into nucleus, translocation|IMP; GO:0043491|P:protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(139993,'Experimental MF/BP Leaf Term GOA',NULL,15992,NULL,'GO:0060789|P:hair follicle placode formation|IMP; GO:0070527|P:platelet aggregation|IMP',NULL,NULL,NULL,NULL,NULL),(139994,'Experimental MF/BP Leaf Term GOA',NULL,15996,NULL,'GO:0030345|F:structural constituent of tooth enamel|IDA',NULL,NULL,NULL,NULL,NULL),(139995,'Experimental MF/BP Leaf Term GOA',NULL,15997,NULL,'GO:0050528|F:acyloxyacyl hydrolase activity|IDA; GO:0009104|P:lipopolysaccharide catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(139996,'Experimental MF/BP Leaf Term GOA',NULL,15998,NULL,'GO:0004383|F:guanylate cyclase activity|IDA; GO:0016941|F:natriuretic peptide receptor activity|IDA; GO:0006182|P:cGMP biosynthetic process|IDA; GO:0007168|P:receptor guanylyl cyclase signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(139997,'Experimental MF/BP Leaf Term GOA',NULL,15999,NULL,'GO:0035176|P:social behavior|IEP',NULL,NULL,NULL,NULL,NULL),(139998,'Experimental MF/BP Leaf Term GOA',NULL,16000,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0008584|P:male gonad development|IEP',NULL,NULL,NULL,NULL,NULL),(139999,'Experimental MF/BP Leaf Term GOA',NULL,16007,NULL,'GO:0004021|F:L-alanine:2-oxoglutarate aminotransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140000,'Experimental MF/BP Leaf Term GOA',NULL,16008,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140001,'Experimental MF/BP Leaf Term GOA',NULL,16012,NULL,'GO:0003876|F:AMP deaminase activity|IGI; GO:0097009|P:energy homeostasis|IGI',NULL,NULL,NULL,NULL,NULL),(140002,'Experimental MF/BP Leaf Term GOA',NULL,16013,NULL,'GO:0072660|P:maintenance of protein location in plasma membrane|IGI',NULL,NULL,NULL,NULL,NULL),(140003,'Experimental MF/BP Leaf Term GOA',NULL,16015,NULL,'GO:0006182|P:cGMP biosynthetic process|IDA; GO:0007168|P:receptor guanylyl cyclase signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140004,'Experimental MF/BP Leaf Term GOA',NULL,16016,NULL,'GO:0005229|F:intracellular calcium activated chloride channel activity|IDA; GO:1902476|P:chloride transmembrane transport|IMP; GO:0035774|P:positive regulation of insulin secretion involved in cellular response to glucose stimulus|IMP',NULL,NULL,NULL,NULL,NULL),(140005,'Experimental MF/BP Leaf Term GOA',NULL,16019,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0097494|P:regulation of vesicle size|IMP',NULL,NULL,NULL,NULL,NULL),(140006,'Experimental MF/BP Leaf Term GOA',NULL,16031,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0000045|P:autophagosome assembly|IMP; GO:0000423|P:mitophagy|IDA',NULL,NULL,NULL,NULL,NULL),(140007,'Experimental MF/BP Leaf Term GOA',NULL,16032,NULL,'GO:0070006|F:metalloaminopeptidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140008,'Experimental MF/BP Leaf Term GOA',NULL,16035,NULL,'GO:0005229|F:intracellular calcium activated chloride channel activity|IMP; GO:0002543|P:activation of blood coagulation via clotting cascade|IMP; GO:0032060|P:bleb assembly|IMP; GO:1902476|P:chloride transmembrane transport|IGI; GO:0045794|P:negative regulation of cell volume|IMP; GO:0097045|P:phosphatidylserine exposure on blood platelet|IMP; GO:2000353|P:positive regulation of endothelial cell apoptotic process|IMP; GO:0090026|P:positive regulation of monocyte chemotaxis|IMP',NULL,NULL,NULL,NULL,NULL),(140009,'Experimental MF/BP Leaf Term GOA',NULL,16040,NULL,'GO:0004303|F:estradiol 17-beta-dehydrogenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140010,'Experimental MF/BP Leaf Term GOA',NULL,16041,NULL,'GO:0043795|F:glyceraldehyde oxidoreductase activity|IDA; GO:0044598|P:doxorubicin metabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(140011,'Experimental MF/BP Leaf Term GOA',NULL,16043,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0001758|F:retinal dehydrogenase activity|IDA; GO:0051289|P:protein homotetramerization|IDA; GO:0042574|P:retinal metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140012,'Experimental MF/BP Leaf Term GOA',NULL,16044,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140013,'Experimental MF/BP Leaf Term GOA',NULL,16046,NULL,'GO:1990272|F:anti-Mullerian hormone receptor activity|IMP; GO:1990262|P:anti-Mullerian hormone signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140014,'Experimental MF/BP Leaf Term GOA',NULL,16047,NULL,'GO:0004556|F:alpha-amylase activity|IDA; GO:0031404|F:chloride ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140015,'Experimental MF/BP Leaf Term GOA',NULL,16048,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0044878|P:mitotic cytokinesis checkpoint|IMP',NULL,NULL,NULL,NULL,NULL),(140016,'Experimental MF/BP Leaf Term GOA',NULL,16050,NULL,'GO:0007171|P:activation of transmembrane receptor protein tyrosine kinase activity|IDA; GO:0030210|P:heparin biosynthetic process|IDA; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IDA; GO:0043116|P:negative regulation of vascular permeability|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:0034394|P:protein localization to cell surface|IDA; GO:0002040|P:sprouting angiogenesis|IDA; GO:0048014|P:Tie signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140017,'Experimental MF/BP Leaf Term GOA',NULL,16051,NULL,'GO:0048014|P:Tie signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140018,'Experimental MF/BP Leaf Term GOA',NULL,16055,NULL,'GO:0008179|F:adenylate cyclase binding|IPI; GO:0034237|F:protein kinase A regulatory subunit binding|IPI; GO:0030346|F:protein phosphatase 2B binding|IDA; GO:0097110|F:scaffold protein binding|IPI; GO:0017124|F:SH3 domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(140019,'Experimental MF/BP Leaf Term GOA',NULL,16057,NULL,'GO:0001758|F:retinal dehydrogenase activity|IDA; GO:0042574|P:retinal metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140020,'Experimental MF/BP Leaf Term GOA',NULL,16058,NULL,'GO:0047939|F:L-glucuronate reductase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140021,'Experimental MF/BP Leaf Term GOA',NULL,16059,NULL,'GO:0005078|F:MAP-kinase scaffold activity|IDA; GO:0035025|P:positive regulation of Rho protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(140022,'Experimental MF/BP Leaf Term GOA',NULL,16062,NULL,'GO:0035553|P:oxidative single-stranded RNA demethylation|IDA',NULL,NULL,NULL,NULL,NULL),(140023,'Experimental MF/BP Leaf Term GOA',NULL,16063,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0043539|F:protein serine/threonine kinase activator activity|IDA; GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA; GO:0030676|F:Rac guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140024,'Experimental MF/BP Leaf Term GOA',NULL,16068,NULL,'GO:0044548|F:S100 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(140025,'Experimental MF/BP Leaf Term GOA',NULL,16070,NULL,'GO:0004028|F:3-chloroallyl aldehyde dehydrogenase activity|EXP; GO:0019145|F:aminobutyraldehyde dehydrogenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140026,'Experimental MF/BP Leaf Term GOA',NULL,16072,NULL,'GO:0042826|F:histone deacetylase binding|IDA; GO:0005521|F:lamin binding|IDA',NULL,NULL,NULL,NULL,NULL),(140027,'Experimental MF/BP Leaf Term GOA',NULL,16077,NULL,'GO:0050479|F:glyceryl-ether monooxygenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140028,'Experimental MF/BP Leaf Term GOA',NULL,16080,NULL,'GO:0006621|P:protein retention in ER lumen|IMP',NULL,NULL,NULL,NULL,NULL),(140029,'Experimental MF/BP Leaf Term GOA',NULL,16081,NULL,'GO:0070612|F:histone methyltransferase activity (H2A-R3 specific)|IDA; GO:0070611|F:histone methyltransferase activity (H3-R2 specific)|IDA; GO:0044020|F:histone methyltransferase activity (H4-R3 specific)|IDA; GO:0035242|F:protein-arginine omega-N asymmetric methyltransferase activity|IDA; GO:0035241|F:protein-arginine omega-N monomethyltransferase activity|IDA; GO:0034970|P:histone H3-R2 methylation|IDA; GO:0019919|P:peptidyl-arginine methylation, to asymmetrical-dimethyl arginine|IDA',NULL,NULL,NULL,NULL,NULL),(140030,'Experimental MF/BP Leaf Term GOA',NULL,16087,NULL,'GO:0006699|P:bile acid biosynthetic process|IDA; GO:0006707|P:cholesterol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140031,'Experimental MF/BP Leaf Term GOA',NULL,16090,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140032,'Experimental MF/BP Leaf Term GOA',NULL,16091,NULL,'GO:0001942|P:hair follicle development|IMP',NULL,NULL,NULL,NULL,NULL),(140033,'Experimental MF/BP Leaf Term GOA',NULL,16093,NULL,'GO:0005544|F:calcium-dependent phospholipid binding|IDA; GO:0015485|F:cholesterol binding|IDA; GO:0005525|F:GTP binding|IMP; GO:0042803|F:protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(140034,'Experimental MF/BP Leaf Term GOA',NULL,16095,NULL,'GO:0031702|F:type 1 angiotensin receptor binding|IPI; GO:0031703|F:type 2 angiotensin receptor binding|IPI; GO:0051387|P:negative regulation of neurotrophin TRK receptor signaling pathway|IDA; GO:0010536|P:positive regulation of activation of Janus kinase activity|IMP; GO:0090190|P:positive regulation of branching involved in ureteric bud morphogenesis|IDA; GO:0010873|P:positive regulation of cholesterol esterification|IDA; GO:1903598|P:positive regulation of gap junction assembly|IGI; GO:1902632|P:positive regulation of membrane hyperpolarization|IMP; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA',NULL,NULL,NULL,NULL,NULL),(140035,'Experimental MF/BP Leaf Term GOA',NULL,16096,NULL,'GO:0001786|F:phosphatidylserine binding|IDA',NULL,NULL,NULL,NULL,NULL),(140036,'Experimental MF/BP Leaf Term GOA',NULL,16098,NULL,'GO:0097194|P:execution phase of apoptosis|IDA',NULL,NULL,NULL,NULL,NULL),(140037,'Experimental MF/BP Leaf Term GOA',NULL,16101,NULL,'GO:0043508|P:negative regulation of JUN kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140038,'Experimental MF/BP Leaf Term GOA',NULL,16103,NULL,'GO:0140078|F:class I DNA-(apurinic or apyrimidinic site) endonuclease activity|IDA; GO:0008198|F:ferrous iron binding|IDA; GO:0070579|F:methylcytosine dioxygenase activity|IDA; GO:0035516|F:oxidative DNA demethylase activity|IDA; GO:1990984|F:tRNA demethylase activity|IDA; GO:0006307|P:DNA dealkylation involved in DNA repair|IDA; GO:0042245|P:RNA repair|IDA; GO:1990983|P:tRNA demethylation|IDA',NULL,NULL,NULL,NULL,NULL),(140039,'Experimental MF/BP Leaf Term GOA',NULL,16104,NULL,'GO:0030298|F:receptor signaling protein tyrosine kinase activator activity|IDA; GO:0070378|P:positive regulation of ERK5 cascade|IDA',NULL,NULL,NULL,NULL,NULL),(140040,'Experimental MF/BP Leaf Term GOA',NULL,16107,NULL,'GO:0005159|F:insulin-like growth factor receptor binding|IPI; GO:0005080|F:protein kinase C binding|IPI',NULL,NULL,NULL,NULL,NULL),(140041,'Experimental MF/BP Leaf Term GOA',NULL,16109,NULL,'GO:0051087|F:chaperone binding|IPI',NULL,NULL,NULL,NULL,NULL),(140042,'Experimental MF/BP Leaf Term GOA',NULL,16113,NULL,'GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(140043,'Experimental MF/BP Leaf Term GOA',NULL,16114,NULL,'GO:0022850|F:serotonin-gated cation-selective channel activity|IGI',NULL,NULL,NULL,NULL,NULL),(140044,'Experimental MF/BP Leaf Term GOA',NULL,16115,NULL,'GO:0014827|P:intestine smooth muscle contraction|IMP',NULL,NULL,NULL,NULL,NULL),(140045,'Experimental MF/BP Leaf Term GOA',NULL,16117,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(140046,'Experimental MF/BP Leaf Term GOA',NULL,16119,NULL,'GO:0004069|F:L-aspartate:2-oxoglutarate aminotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140047,'Experimental MF/BP Leaf Term GOA',NULL,16120,NULL,'GO:0004679|F:AMP-activated protein kinase activity|IDA; GO:0061762|P:CAMKK-AMPK signaling cascade|IMP',NULL,NULL,NULL,NULL,NULL),(140048,'Experimental MF/BP Leaf Term GOA',NULL,16121,NULL,'GO:0001836|P:release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(140049,'Experimental MF/BP Leaf Term GOA',NULL,16122,NULL,'GO:0042270|P:protection from natural killer cell mediated cytotoxicity|IDA',NULL,NULL,NULL,NULL,NULL),(140050,'Experimental MF/BP Leaf Term GOA',NULL,16124,NULL,'GO:0017057|F:6-phosphogluconolactonase activity|IDA; GO:0006098|P:pentose-phosphate shunt|IDA',NULL,NULL,NULL,NULL,NULL),(140051,'Experimental MF/BP Leaf Term GOA',NULL,16126,NULL,'GO:0042270|P:protection from natural killer cell mediated cytotoxicity|IDA',NULL,NULL,NULL,NULL,NULL),(140052,'Experimental MF/BP Leaf Term GOA',NULL,16130,NULL,'GO:0047372|F:acylglycerol lipase activity|IDA; GO:0004622|F:lysophospholipase activity|IDA; GO:0052651|P:monoacylglycerol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140053,'Experimental MF/BP Leaf Term GOA',NULL,16131,NULL,'GO:0047372|F:acylglycerol lipase activity|IDA; GO:0052651|P:monoacylglycerol catabolic process|IDA; GO:1905344|P:prostaglandin catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140054,'Experimental MF/BP Leaf Term GOA',NULL,16133,NULL,'GO:0043531|F:ADP binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0015607|F:fatty-acyl-CoA transmembrane transporter activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0015910|P:peroxisomal long-chain fatty acid import|IGI; GO:0042760|P:very long-chain fatty acid catabolic process|IDA; GO:0036113|P:very long-chain fatty-acyl-CoA catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(140055,'Experimental MF/BP Leaf Term GOA',NULL,16137,NULL,'GO:0042270|P:protection from natural killer cell mediated cytotoxicity|IDA',NULL,NULL,NULL,NULL,NULL),(140056,'Experimental MF/BP Leaf Term GOA',NULL,16139,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0006713|P:glucocorticoid catabolic process|IDA; GO:0042921|P:glucocorticoid receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140057,'Experimental MF/BP Leaf Term GOA',NULL,16140,NULL,'GO:0000334|F:3-hydroxyanthranilate 3,4-dioxygenase activity|IDA; GO:0008198|F:ferrous iron binding|IDA; GO:0019805|P:quinolinate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140058,'Experimental MF/BP Leaf Term GOA',NULL,16141,NULL,'GO:0051378|F:serotonin binding|IDA',NULL,NULL,NULL,NULL,NULL),(140059,'Experimental MF/BP Leaf Term GOA',NULL,16142,NULL,'GO:0033130|F:acetylcholine receptor binding|IPI; GO:0051087|F:chaperone binding|IPI; GO:0046875|F:ephrin receptor binding|IPI; GO:0005109|F:frizzled binding|IPI; GO:0043395|F:heparan sulfate proteoglycan binding|IMP; GO:0005158|F:insulin receptor binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0051425|F:PTB domain binding|IPI; GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA; GO:1990000|P:amyloid fibril formation|IMP; GO:0019732|P:antifungal humoral response|IMP; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IMP; GO:0002265|P:astrocyte activation involved in immune response|IGI; GO:1904646|P:cellular response to amyloid-beta|IGI; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0014005|P:microglia development|IGI; GO:0090647|P:modulation of age-related behavioral decline|IMP; GO:1900272|P:negative regulation of long-term synaptic potentiation|IGI; GO:1902894|P:negative regulation of pri-miRNA transcription by RNA polymerase II|IDA; GO:1990535|P:neuron projection maintenance|IGI; GO:0061903|P:positive regulation of 1-phosphatidylinositol-3-kinase activity|IGI; GO:1905908|P:positive regulation of amyloid fibril formation|IMP; GO:1902004|P:positive regulation of amyloid-beta formation|IGI; GO:0061890|P:positive regulation of astrocyte activation|IGI; GO:1905893|P:positive regulation of cellular response to thapsigargin|IDA; GO:1905896|P:positive regulation of cellular response to tunicamycin|IDA; GO:1904022|P:positive regulation of G protein-coupled receptor internalization|IDA; GO:1900273|P:positive regulation of long-term synaptic potentiation|IGI; GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IDA; GO:1903980|P:positive regulation of microglial cell activation|IGI; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IGI; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IMP; GO:0032930|P:positive regulation of superoxide anion generation|IGI; GO:1902949|P:positive regulation of tau-protein kinase activity|IGI; GO:0032640|P:tumor necrosis factor production|IGI',NULL,NULL,NULL,NULL,NULL),(140060,'Experimental MF/BP Leaf Term GOA',NULL,16144,NULL,'GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(140061,'Experimental MF/BP Leaf Term GOA',NULL,16146,NULL,'GO:0043531|F:ADP binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0004862|F:cAMP-dependent protein kinase inhibitor activity|IDA; GO:0008603|F:cAMP-dependent protein kinase regulator activity|IMP; GO:0008607|F:phosphorylase kinase regulator activity|IMP; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(140062,'Experimental MF/BP Leaf Term GOA',NULL,16148,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0097110|F:scaffold protein binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1905913|P:negative regulation of calcium ion export across plasma membrane|IDA; GO:1902309|P:negative regulation of peptidyl-serine dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(140063,'Experimental MF/BP Leaf Term GOA',NULL,16151,NULL,'GO:0004679|F:AMP-activated protein kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140064,'Experimental MF/BP Leaf Term GOA',NULL,16152,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140065,'Experimental MF/BP Leaf Term GOA',NULL,16157,NULL,'GO:0004126|F:cytidine deaminase activity|IDA; GO:0047844|F:deoxycytidine deaminase activity|IMP; GO:0044356|P:clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine|IDA; GO:0070383|P:DNA cytosine deamination|IDA',NULL,NULL,NULL,NULL,NULL),(140066,'Experimental MF/BP Leaf Term GOA',NULL,16163,NULL,'GO:0042605|F:peptide antigen binding|IDA; GO:0002506|P:polysaccharide assembly with MHC class II protein complex|IDA',NULL,NULL,NULL,NULL,NULL),(140067,'Experimental MF/BP Leaf Term GOA',NULL,16165,NULL,'GO:0071886|F:1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|IDA; GO:0001587|F:Gq/11-coupled serotonin receptor activity|IDA; GO:0051378|F:serotonin binding|IDA',NULL,NULL,NULL,NULL,NULL),(140068,'Experimental MF/BP Leaf Term GOA',NULL,16169,NULL,'GO:0004616|F:phosphogluconate dehydrogenase (decarboxylating) activity|EXP; GO:0009051|P:pentose-phosphate shunt, oxidative branch|IDA',NULL,NULL,NULL,NULL,NULL),(140069,'Experimental MF/BP Leaf Term GOA',NULL,16171,NULL,'GO:0047536|F:2-aminoadipate transaminase activity|IDA; GO:0016212|F:kynurenine-oxoglutarate transaminase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140070,'Experimental MF/BP Leaf Term GOA',NULL,16181,NULL,'GO:0004069|F:L-aspartate:2-oxoglutarate aminotransferase activity|IDA; GO:0032869|P:cellular response to insulin stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(140071,'Experimental MF/BP Leaf Term GOA',NULL,16184,NULL,'GO:2001241|P:positive regulation of extrinsic apoptotic signaling pathway in absence of ligand|IMP',NULL,NULL,NULL,NULL,NULL),(140072,'Experimental MF/BP Leaf Term GOA',NULL,16188,NULL,'GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:1904469|P:positive regulation of tumor necrosis factor secretion|IDA',NULL,NULL,NULL,NULL,NULL),(140073,'Experimental MF/BP Leaf Term GOA',NULL,16190,NULL,'GO:0090555|F:phosphatidylethanolamine-translocating ATPase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140074,'Experimental MF/BP Leaf Term GOA',NULL,16194,NULL,'GO:0090722|F:receptor-receptor interaction|IDA; GO:0007198|P:adenylate cyclase-inhibiting serotonin receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140075,'Experimental MF/BP Leaf Term GOA',NULL,16197,NULL,'GO:0051378|F:serotonin binding|IDA; GO:0022850|F:serotonin-gated cation-selective channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(140076,'Experimental MF/BP Leaf Term GOA',NULL,16198,NULL,'GO:0022850|F:serotonin-gated cation-selective channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(140077,'Experimental MF/BP Leaf Term GOA',NULL,16203,NULL,'GO:0005096|F:GTPase activator activity|IMP; GO:0030215|F:semaphorin receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(140078,'Experimental MF/BP Leaf Term GOA',NULL,16207,NULL,'GO:0005545|F:1-phosphatidylinositol binding|IDA; GO:0008022|F:protein C-terminus binding|IMP',NULL,NULL,NULL,NULL,NULL),(140079,'Experimental MF/BP Leaf Term GOA',NULL,16211,NULL,'GO:0001784|F:phosphotyrosine residue binding|IPI',NULL,NULL,NULL,NULL,NULL),(140080,'Experimental MF/BP Leaf Term GOA',NULL,16212,NULL,'GO:0042605|F:peptide antigen binding|IDA; GO:0002455|P:humoral immune response mediated by circulating immunoglobulin|IDA; GO:0035774|P:positive regulation of insulin secretion involved in cellular response to glucose stimulus|IMP; GO:0042088|P:T-helper 1 type immune response|IMP',NULL,NULL,NULL,NULL,NULL),(140081,'Experimental MF/BP Leaf Term GOA',NULL,16213,NULL,'GO:0042270|P:protection from natural killer cell mediated cytotoxicity|IDA',NULL,NULL,NULL,NULL,NULL),(140082,'Experimental MF/BP Leaf Term GOA',NULL,16218,NULL,'GO:0001965|F:G-protein alpha-subunit binding|IMP; GO:0051378|F:serotonin binding|IDA; GO:0007202|P:activation of phospholipase C activity|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IMP; GO:0014827|P:intestine smooth muscle contraction|IMP; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IDA; GO:0051000|P:positive regulation of nitric-oxide synthase activity|IDA; GO:0070528|P:protein kinase C signaling|IMP',NULL,NULL,NULL,NULL,NULL),(140083,'Experimental MF/BP Leaf Term GOA',NULL,16220,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA; GO:0051918|P:negative regulation of fibrinolysis|IDA; GO:0010757|P:negative regulation of plasminogen activation|IDA; GO:0032967|P:positive regulation of collagen biosynthetic process|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140084,'Experimental MF/BP Leaf Term GOA',NULL,16222,NULL,'GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:1904469|P:positive regulation of tumor necrosis factor secretion|IDA',NULL,NULL,NULL,NULL,NULL),(140085,'Experimental MF/BP Leaf Term GOA',NULL,16227,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140086,'Experimental MF/BP Leaf Term GOA',NULL,16228,NULL,'GO:0042921|P:glucocorticoid receptor signaling pathway|IDA; GO:0030520|P:intracellular estrogen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140087,'Experimental MF/BP Leaf Term GOA',NULL,16231,NULL,'GO:1900016|P:negative regulation of cytokine production involved in inflammatory response|IDA',NULL,NULL,NULL,NULL,NULL),(140088,'Experimental MF/BP Leaf Term GOA',NULL,16232,NULL,'GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(140089,'Experimental MF/BP Leaf Term GOA',NULL,16239,NULL,'GO:0035402|F:histone kinase activity (H3-T11 specific)|IDA; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0006975|P:DNA damage induced protein phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(140090,'Experimental MF/BP Leaf Term GOA',NULL,16240,NULL,'GO:0004103|F:choline kinase activity|IDA; GO:0004305|F:ethanolamine kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140091,'Experimental MF/BP Leaf Term GOA',NULL,16241,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0006975|P:DNA damage induced protein phosphorylation|IMP; GO:0000086|P:G2/M transition of mitotic cell cycle|IMP; GO:0090307|P:mitotic spindle assembly|IMP; GO:0050821|P:protein stabilization|IDA; GO:0001302|P:replicative cell aging|IMP; GO:0072428|P:signal transduction involved in intra-S DNA damage checkpoint|IMP',NULL,NULL,NULL,NULL,NULL),(140092,'Experimental MF/BP Leaf Term GOA',NULL,16242,NULL,'GO:0004103|F:choline kinase activity|IDA; GO:0004305|F:ethanolamine kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140093,'Experimental MF/BP Leaf Term GOA',NULL,16243,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0061952|P:midbody abscission|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140094,'Experimental MF/BP Leaf Term GOA',NULL,16244,NULL,'GO:0061952|P:midbody abscission|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP; GO:0039702|P:viral budding via host ESCRT complex|IDA',NULL,NULL,NULL,NULL,NULL),(140095,'Experimental MF/BP Leaf Term GOA',NULL,16245,NULL,'GO:0031210|F:phosphatidylcholine binding|IMP; GO:0010458|P:exit from mitosis|IMP; GO:0061952|P:midbody abscission|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1903723|P:negative regulation of centriole elongation|IMP; GO:1903543|P:positive regulation of exosomal secretion|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP; GO:0039702|P:viral budding via host ESCRT complex|IDA',NULL,NULL,NULL,NULL,NULL),(140096,'Experimental MF/BP Leaf Term GOA',NULL,16246,NULL,'GO:0061952|P:midbody abscission|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP; GO:0039702|P:viral budding via host ESCRT complex|IDA',NULL,NULL,NULL,NULL,NULL),(140097,'Experimental MF/BP Leaf Term GOA',NULL,16247,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0010458|P:exit from mitosis|IMP; GO:0036438|P:maintenance of lens transparency|IMP; GO:0061952|P:midbody abscission|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1902902|P:negative regulation of autophagosome assembly|IMP; GO:0006620|P:posttranslational protein targeting to endoplasmic reticulum membrane|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP; GO:0090611|P:ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway|IMP; GO:0039702|P:viral budding via host ESCRT complex|IDA',NULL,NULL,NULL,NULL,NULL),(140098,'Experimental MF/BP Leaf Term GOA',NULL,16250,NULL,'GO:0004056|F:argininosuccinate lyase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140099,'Experimental MF/BP Leaf Term GOA',NULL,16254,NULL,'GO:0008843|F:endochitinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140100,'Experimental MF/BP Leaf Term GOA',NULL,16255,NULL,'GO:0000082|P:G1/S transition of mitotic cell cycle|IDA',NULL,NULL,NULL,NULL,NULL),(140101,'Experimental MF/BP Leaf Term GOA',NULL,16263,NULL,'GO:0042500|F:aspartic endopeptidase activity, intramembrane cleaving|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140102,'Experimental MF/BP Leaf Term GOA',NULL,16265,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(140103,'Experimental MF/BP Leaf Term GOA',NULL,16270,NULL,'GO:0021987|P:cerebral cortex development|IMP',NULL,NULL,NULL,NULL,NULL),(140104,'Experimental MF/BP Leaf Term GOA',NULL,16271,NULL,'GO:0031765|F:type 2 galanin receptor binding|IDA; GO:0031766|F:type 3 galanin receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(140105,'Experimental MF/BP Leaf Term GOA',NULL,16275,NULL,'GO:0070840|F:dynein complex binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0017056|F:structural constituent of nuclear pore|IDA; GO:0007094|P:mitotic spindle assembly checkpoint|IMP; GO:0031990|P:mRNA export from nucleus in response to heat stress|IDA; GO:0042307|P:positive regulation of protein import into nucleus|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140106,'Experimental MF/BP Leaf Term GOA',NULL,16277,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140107,'Experimental MF/BP Leaf Term GOA',NULL,16283,NULL,'GO:0030169|F:low-density lipoprotein particle binding|IDA; GO:0005041|F:low-density lipoprotein particle receptor activity|IDA; GO:0005044|F:scavenger receptor activity|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(140108,'Experimental MF/BP Leaf Term GOA',NULL,16287,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0070508|P:cholesterol import|IDA',NULL,NULL,NULL,NULL,NULL),(140109,'Experimental MF/BP Leaf Term GOA',NULL,16288,NULL,'GO:0020037|F:heme binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140110,'Experimental MF/BP Leaf Term GOA',NULL,16291,NULL,'GO:0046726|P:positive regulation by virus of viral protein levels in host cell|IMP',NULL,NULL,NULL,NULL,NULL),(140111,'Experimental MF/BP Leaf Term GOA',NULL,16292,NULL,'GO:0032405|F:MutLalpha complex binding|IDA; GO:0032407|F:MutSalpha complex binding|IDA',NULL,NULL,NULL,NULL,NULL),(140112,'Experimental MF/BP Leaf Term GOA',NULL,16293,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140113,'Experimental MF/BP Leaf Term GOA',NULL,16295,NULL,'GO:0051879|F:Hsp90 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(140114,'Experimental MF/BP Leaf Term GOA',NULL,16296,NULL,'GO:0008201|F:heparin binding|IDA; GO:0001530|F:lipopolysaccharide binding|IDA; GO:0043539|F:protein serine/threonine kinase activator activity|IDA; GO:0019732|P:antifungal humoral response|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IMP; GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0050830|P:defense response to Gram-positive bacterium|IMP; GO:0002227|P:innate immune response in mucosa|IDA; GO:1900229|P:negative regulation of single-species biofilm formation in or on host organism|IDA; GO:1902732|P:positive regulation of chondrocyte proliferation|IDA; GO:0033690|P:positive regulation of osteoblast proliferation|IDA; GO:0034145|P:positive regulation of toll-like receptor 4 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140115,'Experimental MF/BP Leaf Term GOA',NULL,16298,NULL,'GO:0032211|P:negative regulation of telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(140116,'Experimental MF/BP Leaf Term GOA',NULL,16299,NULL,'GO:1901253|P:negative regulation of intracellular transport of viral material|IMP; GO:1900246|P:positive regulation of RIG-I signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140117,'Experimental MF/BP Leaf Term GOA',NULL,16300,NULL,'GO:0032089|F:NACHT domain binding|IPI; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IMP; GO:0048386|P:positive regulation of retinoic acid receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140118,'Experimental MF/BP Leaf Term GOA',NULL,16302,NULL,'GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140119,'Experimental MF/BP Leaf Term GOA',NULL,16303,NULL,'GO:0000045|P:autophagosome assembly|IMP; GO:0033344|P:cholesterol efflux|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(140120,'Experimental MF/BP Leaf Term GOA',NULL,16304,NULL,'GO:0005484|F:SNAP receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140121,'Experimental MF/BP Leaf Term GOA',NULL,16305,NULL,'GO:0005484|F:SNAP receptor activity|IMP; GO:0097352|P:autophagosome maturation|IMP; GO:0016240|P:autophagosome membrane docking|IDA; GO:0097111|P:endoplasmic reticulum-Golgi intermediate compartment organization|IMP; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0034497|P:protein localization to phagophore assembly site|IDA',NULL,NULL,NULL,NULL,NULL),(140122,'Experimental MF/BP Leaf Term GOA',NULL,16306,NULL,'GO:0090158|P:endoplasmic reticulum membrane organization|IMP; GO:1902953|P:positive regulation of ER to Golgi vesicle-mediated transport|IMP',NULL,NULL,NULL,NULL,NULL),(140123,'Experimental MF/BP Leaf Term GOA',NULL,16310,NULL,'GO:0005484|F:SNAP receptor activity|IDA; GO:0034498|P:early endosome to Golgi transport|IMP; GO:0090166|P:Golgi disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(140124,'Experimental MF/BP Leaf Term GOA',NULL,16313,NULL,'GO:0070410|F:co-SMAD binding|IPI; GO:0070412|F:R-SMAD binding|IPI',NULL,NULL,NULL,NULL,NULL),(140125,'Experimental MF/BP Leaf Term GOA',NULL,16316,NULL,'GO:0016230|F:sphingomyelin phosphodiesterase activator activity|IMP; GO:0060291|P:long-term synaptic potentiation|IDA; GO:0043311|P:positive regulation of eosinophil degranulation|IMP; GO:0051024|P:positive regulation of immunoglobulin secretion|IMP; GO:0035774|P:positive regulation of insulin secretion involved in cellular response to glucose stimulus|IDA; GO:2000010|P:positive regulation of protein localization to cell surface|IMP',NULL,NULL,NULL,NULL,NULL),(140126,'Experimental MF/BP Leaf Term GOA',NULL,16317,NULL,'GO:0030348|F:syntaxin-3 binding|IPI; GO:0043312|P:neutrophil degranulation|IEP',NULL,NULL,NULL,NULL,NULL),(140127,'Experimental MF/BP Leaf Term GOA',NULL,16318,NULL,'GO:0043312|P:neutrophil degranulation|IEP; GO:0070527|P:platelet aggregation|IMP',NULL,NULL,NULL,NULL,NULL),(140128,'Experimental MF/BP Leaf Term GOA',NULL,16319,NULL,'GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0071225|P:cellular response to muramyl dipeptide|IMP',NULL,NULL,NULL,NULL,NULL),(140129,'Experimental MF/BP Leaf Term GOA',NULL,16321,NULL,'GO:0061944|P:negative regulation of protein K48-linked ubiquitination|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(140130,'Experimental MF/BP Leaf Term GOA',NULL,16324,NULL,'GO:1990444|F:F-box domain binding|IMP; GO:0001691|F:pseudophosphatase activity|IMP; GO:0045204|P:MAPK export from nucleus|IMP; GO:0062026|P:negative regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(140131,'Experimental MF/BP Leaf Term GOA',NULL,16326,NULL,'GO:0031432|F:titin binding|IDA',NULL,NULL,NULL,NULL,NULL),(140132,'Experimental MF/BP Leaf Term GOA',NULL,16334,NULL,'GO:0031434|F:mitogen-activated protein kinase kinase binding|IDA; GO:0007254|P:JNK cascade|IMP',NULL,NULL,NULL,NULL,NULL),(140133,'Experimental MF/BP Leaf Term GOA',NULL,16336,NULL,'GO:0001530|F:lipopolysaccharide binding|IDA',NULL,NULL,NULL,NULL,NULL),(140134,'Experimental MF/BP Leaf Term GOA',NULL,16338,NULL,'GO:0035458|P:cellular response to interferon-beta|IMP; GO:0010994|P:free ubiquitin chain polymerization|IMP; GO:0002741|P:positive regulation of cytokine secretion involved in immune response|IMP; GO:0002230|P:positive regulation of defense response to virus by host|IMP; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IMP; GO:0060340|P:positive regulation of type I interferon-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140135,'Experimental MF/BP Leaf Term GOA',NULL,16340,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140136,'Experimental MF/BP Leaf Term GOA',NULL,16341,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140137,'Experimental MF/BP Leaf Term GOA',NULL,16344,NULL,'GO:0047369|F:succinate-hydroxymethylglutarate CoA-transferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140138,'Experimental MF/BP Leaf Term GOA',NULL,16346,NULL,'GO:0004558|F:alpha-1,4-glucosidase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140139,'Experimental MF/BP Leaf Term GOA',NULL,16350,NULL,'GO:0030506|F:ankyrin binding|IPI; GO:1900042|P:positive regulation of interleukin-2 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(140140,'Experimental MF/BP Leaf Term GOA',NULL,16354,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0004879|F:nuclear receptor activity|IDA; GO:0032810|F:sterol response element binding|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(140141,'Experimental MF/BP Leaf Term GOA',NULL,16356,NULL,'GO:0046785|P:microtubule polymerization|IDA',NULL,NULL,NULL,NULL,NULL),(140142,'Experimental MF/BP Leaf Term GOA',NULL,16359,NULL,'GO:0008022|F:protein C-terminus binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071276|P:cellular response to cadmium ion|IDA; GO:1902260|P:negative regulation of delayed rectifier potassium channel activity|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(140143,'Experimental MF/BP Leaf Term GOA',NULL,16361,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(140144,'Experimental MF/BP Leaf Term GOA',NULL,16362,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0051298|P:centrosome duplication|IMP; GO:0071108|P:protein K48-linked deubiquitination|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(140145,'Experimental MF/BP Leaf Term GOA',NULL,16363,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0071108|P:protein K48-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140146,'Experimental MF/BP Leaf Term GOA',NULL,16364,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(140147,'Experimental MF/BP Leaf Term GOA',NULL,16367,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(140148,'Experimental MF/BP Leaf Term GOA',NULL,16369,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:1904667|P:negative regulation of ubiquitin protein ligase activity|IMP',NULL,NULL,NULL,NULL,NULL),(140149,'Experimental MF/BP Leaf Term GOA',NULL,16370,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(140150,'Experimental MF/BP Leaf Term GOA',NULL,16371,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(140151,'Experimental MF/BP Leaf Term GOA',NULL,16372,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0071987|F:WD40-repeat domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(140152,'Experimental MF/BP Leaf Term GOA',NULL,16374,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0035616|P:histone H2B conserved C-terminal lysine deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140153,'Experimental MF/BP Leaf Term GOA',NULL,16375,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0034394|P:protein localization to cell surface|IDA; GO:0000244|P:spliceosomal tri-snRNP complex assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140154,'Experimental MF/BP Leaf Term GOA',NULL,16376,NULL,'GO:0050718|P:positive regulation of interleukin-1 beta secretion|IMP; GO:1900227|P:positive regulation of NLRP3 inflammasome complex assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140155,'Experimental MF/BP Leaf Term GOA',NULL,16377,NULL,'GO:0000045|P:autophagosome assembly|IMP; GO:0097352|P:autophagosome maturation|IMP; GO:0071456|P:cellular response to hypoxia|IMP; GO:1901340|P:negative regulation of store-operated calcium channel activity|IMP; GO:1903071|P:positive regulation of ER-associated ubiquitin-dependent protein catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(140156,'Experimental MF/BP Leaf Term GOA',NULL,16379,NULL,'GO:0003980|F:UDP-glucose:glycoprotein glucosyltransferase activity|IDA; GO:0051082|F:unfolded protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(140157,'Experimental MF/BP Leaf Term GOA',NULL,16380,NULL,'GO:0003983|F:UTP:glucose-1-phosphate uridylyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140158,'Experimental MF/BP Leaf Term GOA',NULL,16381,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0004830|F:tryptophan-tRNA ligase activity|IMP',NULL,NULL,NULL,NULL,NULL),(140159,'Experimental MF/BP Leaf Term GOA',NULL,16383,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0033314|P:mitotic DNA replication checkpoint|IDA; GO:0045116|P:protein neddylation|IDA',NULL,NULL,NULL,NULL,NULL),(140160,'Experimental MF/BP Leaf Term GOA',NULL,16384,NULL,'GO:0021540|P:corpus callosum morphogenesis|IMP; GO:1904262|P:negative regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(140161,'Experimental MF/BP Leaf Term GOA',NULL,16387,NULL,'GO:0046854|P:phosphatidylinositol phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(140162,'Experimental MF/BP Leaf Term GOA',NULL,16404,NULL,'GO:0046703|F:natural killer cell lectin-like receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(140163,'Experimental MF/BP Leaf Term GOA',NULL,16411,NULL,'GO:0004588|F:orotate phosphoribosyltransferase activity|IDA; GO:0004590|F:orotidine-5\'-phosphate decarboxylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140164,'Experimental MF/BP Leaf Term GOA',NULL,16412,NULL,'GO:0030742|F:GTP-dependent protein binding|IPI; GO:0071333|P:cellular response to glucose stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(140165,'Experimental MF/BP Leaf Term GOA',NULL,16421,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(140166,'Experimental MF/BP Leaf Term GOA',NULL,16422,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(140167,'Experimental MF/BP Leaf Term GOA',NULL,16424,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(140168,'Experimental MF/BP Leaf Term GOA',NULL,16425,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(140169,'Experimental MF/BP Leaf Term GOA',NULL,16426,NULL,'GO:0043024|F:ribosomal small subunit binding|IPI; GO:0097510|P:base-excision repair, AP site formation via deaminated base removal|IDA',NULL,NULL,NULL,NULL,NULL),(140170,'Experimental MF/BP Leaf Term GOA',NULL,16431,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(140171,'Experimental MF/BP Leaf Term GOA',NULL,16432,NULL,'GO:0001580|P:detection of chemical stimulus involved in sensory perception of bitter taste|IDA',NULL,NULL,NULL,NULL,NULL),(140172,'Experimental MF/BP Leaf Term GOA',NULL,16434,NULL,'GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IGI',NULL,NULL,NULL,NULL,NULL),(140173,'Experimental MF/BP Leaf Term GOA',NULL,16443,NULL,'GO:0070935|P:3\'-UTR-mediated mRNA stabilization|IDA; GO:0043922|P:negative regulation by host of viral transcription|IDA; GO:0071765|P:nuclear inner membrane organization|IMP',NULL,NULL,NULL,NULL,NULL),(140174,'Experimental MF/BP Leaf Term GOA',NULL,16444,NULL,'GO:0004850|F:uridine phosphorylase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140175,'Experimental MF/BP Leaf Term GOA',NULL,16445,NULL,'GO:0030331|F:estrogen receptor binding|IDA; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(140176,'Experimental MF/BP Leaf Term GOA',NULL,16446,NULL,'GO:0004850|F:uridine phosphorylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140177,'Experimental MF/BP Leaf Term GOA',NULL,16447,NULL,'GO:0001164|F:RNA polymerase I CORE element sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(140178,'Experimental MF/BP Leaf Term GOA',NULL,16448,NULL,'GO:0017162|F:aryl hydrocarbon receptor binding|IPI; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(140179,'Experimental MF/BP Leaf Term GOA',NULL,16452,NULL,'GO:0090286|P:cytoskeletal anchoring at nuclear membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140180,'Experimental MF/BP Leaf Term GOA',NULL,16453,NULL,'GO:0051879|F:Hsp90 protein binding|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(140181,'Experimental MF/BP Leaf Term GOA',NULL,16454,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(140182,'Experimental MF/BP Leaf Term GOA',NULL,16457,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0001972|F:retinoic acid binding|IDA; GO:0052696|P:flavonoid glucuronidation|IDA; GO:0052697|P:xenobiotic glucuronidation|IDA',NULL,NULL,NULL,NULL,NULL),(140183,'Experimental MF/BP Leaf Term GOA',NULL,16458,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140184,'Experimental MF/BP Leaf Term GOA',NULL,16459,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0005080|F:protein kinase C binding|IDA; GO:0001972|F:retinoic acid binding|IDA; GO:0052696|P:flavonoid glucuronidation|IDA; GO:2001030|P:negative regulation of cellular glucuronidation|IDA; GO:1904224|P:negative regulation of glucuronosyltransferase activity|IDA; GO:0052697|P:xenobiotic glucuronidation|IDA',NULL,NULL,NULL,NULL,NULL),(140185,'Experimental MF/BP Leaf Term GOA',NULL,16460,NULL,'GO:0071412|P:cellular response to genistein|IDA',NULL,NULL,NULL,NULL,NULL),(140186,'Experimental MF/BP Leaf Term GOA',NULL,16463,NULL,'GO:1903136|F:cuprous ion binding|IMP',NULL,NULL,NULL,NULL,NULL),(140187,'Experimental MF/BP Leaf Term GOA',NULL,16465,NULL,'GO:0071712|P:ER-associated misfolded protein catabolic process|IMP; GO:0039536|P:negative regulation of RIG-I signaling pathway|IMP; GO:0030970|P:retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(140188,'Experimental MF/BP Leaf Term GOA',NULL,16466,NULL,'GO:1990592|P:protein K69-linked ufmylation|IDA',NULL,NULL,NULL,NULL,NULL),(140189,'Experimental MF/BP Leaf Term GOA',NULL,16467,NULL,'GO:1990592|P:protein K69-linked ufmylation|IDA',NULL,NULL,NULL,NULL,NULL),(140190,'Experimental MF/BP Leaf Term GOA',NULL,16468,NULL,'GO:0001786|F:phosphatidylserine binding|IDA; GO:0035457|P:cellular response to interferon-alpha|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:2000669|P:negative regulation of dendritic cell apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(140191,'Experimental MF/BP Leaf Term GOA',NULL,16486,NULL,'GO:0046703|F:natural killer cell lectin-like receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(140192,'Experimental MF/BP Leaf Term GOA',NULL,16487,NULL,'GO:0046703|F:natural killer cell lectin-like receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(140193,'Experimental MF/BP Leaf Term GOA',NULL,16488,NULL,'GO:0046703|F:natural killer cell lectin-like receptor binding|IPI; GO:0002729|P:positive regulation of natural killer cell cytokine production|IDA',NULL,NULL,NULL,NULL,NULL),(140194,'Experimental MF/BP Leaf Term GOA',NULL,16500,NULL,'GO:1903861|P:positive regulation of dendrite extension|IDA',NULL,NULL,NULL,NULL,NULL),(140195,'Experimental MF/BP Leaf Term GOA',NULL,16502,NULL,'GO:0034138|P:toll-like receptor 3 signaling pathway|IMP; GO:0034154|P:toll-like receptor 7 signaling pathway|IMP; GO:0034162|P:toll-like receptor 9 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140196,'Experimental MF/BP Leaf Term GOA',NULL,16503,NULL,'GO:0020037|F:heme binding|IDA; GO:0004833|F:tryptophan 2,3-dioxygenase activity|IDA; GO:0051289|P:protein homotetramerization|IDA; GO:0019441|P:tryptophan catabolic process to kynurenine|IDA',NULL,NULL,NULL,NULL,NULL),(140197,'Experimental MF/BP Leaf Term GOA',NULL,16508,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0017025|F:TBP-class protein binding|IPI; GO:0051123|P:RNA polymerase II preinitiation complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140198,'Experimental MF/BP Leaf Term GOA',NULL,16512,NULL,'GO:1901165|P:positive regulation of trophoblast cell migration|IDA; GO:0030579|P:ubiquitin-dependent SMAD protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140199,'Experimental MF/BP Leaf Term GOA',NULL,16516,NULL,'GO:0047493|F:ceramide cholinephosphotransferase activity|IDA; GO:0002950|F:ceramide phosphoethanolamine synthase activity|IDA; GO:0033188|F:sphingomyelin synthase activity|IMP; GO:0006686|P:sphingomyelin biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140200,'Experimental MF/BP Leaf Term GOA',NULL,16517,NULL,'GO:0005545|F:1-phosphatidylinositol binding|IMP; GO:0051117|F:ATPase binding|IPI',NULL,NULL,NULL,NULL,NULL),(140201,'Experimental MF/BP Leaf Term GOA',NULL,16521,NULL,'GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(140202,'Experimental MF/BP Leaf Term GOA',NULL,16522,NULL,'GO:0034452|F:dynactin binding|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140203,'Experimental MF/BP Leaf Term GOA',NULL,16523,NULL,'GO:0005159|F:insulin-like growth factor receptor binding|IPI; GO:0042532|P:negative regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(140204,'Experimental MF/BP Leaf Term GOA',NULL,16527,NULL,'GO:0048406|F:nerve growth factor binding|IPI; GO:0010465|F:nerve growth factor receptor activity|IDA; GO:0030379|F:neurotensin receptor activity, non-G protein-coupled|IDA; GO:0006895|P:Golgi to endosome transport|IDA; GO:0051005|P:negative regulation of lipoprotein lipase activity|IDA; GO:0048011|P:neurotrophin TRK receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140205,'Experimental MF/BP Leaf Term GOA',NULL,16532,NULL,'GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(140206,'Experimental MF/BP Leaf Term GOA',NULL,16533,NULL,'GO:0001706|P:endoderm formation|IDA',NULL,NULL,NULL,NULL,NULL),(140207,'Experimental MF/BP Leaf Term GOA',NULL,16536,NULL,'GO:0070087|F:chromo shadow domain binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0006978|P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IDA',NULL,NULL,NULL,NULL,NULL),(140208,'Experimental MF/BP Leaf Term GOA',NULL,16539,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140209,'Experimental MF/BP Leaf Term GOA',NULL,16540,NULL,'GO:0043014|F:alpha-tubulin binding|IPI; GO:0048487|F:beta-tubulin binding|IDA; GO:0008568|F:microtubule-severing ATPase activity|IDA; GO:0006888|P:ER to Golgi vesicle-mediated transport|IMP; GO:0010458|P:exit from mitosis|IMP; GO:0051013|P:microtubule severing|IDA; GO:0051228|P:mitotic spindle disassembly|IMP; GO:0034214|P:protein hexamerization|IDA',NULL,NULL,NULL,NULL,NULL),(140210,'Experimental MF/BP Leaf Term GOA',NULL,16541,NULL,'GO:1990108|P:protein linear deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140211,'Experimental MF/BP Leaf Term GOA',NULL,16542,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0031013|F:troponin I binding|IPI',NULL,NULL,NULL,NULL,NULL),(140212,'Experimental MF/BP Leaf Term GOA',NULL,16544,NULL,'GO:0072675|P:osteoclast fusion|IMP',NULL,NULL,NULL,NULL,NULL),(140213,'Experimental MF/BP Leaf Term GOA',NULL,16545,NULL,'GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IDA; GO:0070213|P:protein auto-ADP-ribosylation|IDA',NULL,NULL,NULL,NULL,NULL),(140214,'Experimental MF/BP Leaf Term GOA',NULL,16547,NULL,'GO:0044547|F:DNA topoisomerase binding|IPI; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140215,'Experimental MF/BP Leaf Term GOA',NULL,16552,NULL,'GO:0010801|P:negative regulation of peptidyl-threonine phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(140216,'Experimental MF/BP Leaf Term GOA',NULL,16553,NULL,'GO:0061436|P:establishment of skin barrier|IMP; GO:0048012|P:hepatocyte growth factor receptor signaling pathway|IMP; GO:0035024|P:negative regulation of Rho protein signal transduction|IMP; GO:0051497|P:negative regulation of stress fiber assembly|IMP; GO:0070495|P:negative regulation of thrombin-activated receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140217,'Experimental MF/BP Leaf Term GOA',NULL,16554,NULL,'GO:1900025|P:negative regulation of substrate adhesion-dependent cell spreading|IDA; GO:0090091|P:positive regulation of extracellular matrix disassembly|IDA; GO:0010756|P:positive regulation of plasminogen activation|IDA',NULL,NULL,NULL,NULL,NULL),(140218,'Experimental MF/BP Leaf Term GOA',NULL,16557,NULL,'GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(140219,'Experimental MF/BP Leaf Term GOA',NULL,16559,NULL,'GO:0050265|F:RNA uridylyltransferase activity|IDA; GO:0098789|P:pre-mRNA cleavage required for polyadenylation|IDA',NULL,NULL,NULL,NULL,NULL),(140220,'Experimental MF/BP Leaf Term GOA',NULL,16560,NULL,'GO:0034632|F:retinol transmembrane transporter activity|IDA; GO:0030325|P:adrenal gland development|IMP; GO:0061143|P:alveolar primary septum development|IMP; GO:0060539|P:diaphragm development|IMP; GO:0097070|P:ductus arteriosus closure|IMP; GO:0043583|P:ear development|IMP; GO:0060900|P:embryonic camera-type eye formation|IMP; GO:0061029|P:eyelid development in camera-type eye|IMP; GO:0060325|P:face morphogenesis|IMP; GO:0060323|P:head morphogenesis|IMP; GO:0048286|P:lung alveolus development|IMP; GO:0060426|P:lung vasculature development|IMP; GO:0043585|P:nose morphogenesis|IMP; GO:0061205|P:paramesonephric duct development|IMP; GO:0061156|P:pulmonary artery morphogenesis|IMP; GO:0003184|P:pulmonary valve morphogenesis|IMP; GO:0061038|P:uterus morphogenesis|IMP; GO:0042297|P:vocal learning|IMP',NULL,NULL,NULL,NULL,NULL),(140221,'Experimental MF/BP Leaf Term GOA',NULL,16561,NULL,'GO:0070016|F:armadillo repeat domain binding|IPI; GO:0030331|F:estrogen receptor binding|IPI; GO:0051721|F:protein phosphatase 2A binding|IDA',NULL,NULL,NULL,NULL,NULL),(140222,'Experimental MF/BP Leaf Term GOA',NULL,16562,NULL,'GO:0060394|P:negative regulation of pathway-restricted SMAD protein phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(140223,'Experimental MF/BP Leaf Term GOA',NULL,16565,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(140224,'Experimental MF/BP Leaf Term GOA',NULL,16568,NULL,'GO:0019869|F:chloride channel inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140225,'Experimental MF/BP Leaf Term GOA',NULL,16570,NULL,'GO:1903575|P:cornified envelope assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140226,'Experimental MF/BP Leaf Term GOA',NULL,16571,NULL,'GO:2000010|P:positive regulation of protein localization to cell surface|IMP',NULL,NULL,NULL,NULL,NULL),(140227,'Experimental MF/BP Leaf Term GOA',NULL,16573,NULL,'GO:0001691|F:pseudophosphatase activity|IMP; GO:0062030|P:negative regulation of stress granule assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140228,'Experimental MF/BP Leaf Term GOA',NULL,16576,NULL,'GO:0050681|F:androgen receptor binding|IPI; GO:0035035|F:histone acetyltransferase binding|IPI; GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140229,'Experimental MF/BP Leaf Term GOA',NULL,16577,NULL,'GO:0002039|F:p53 binding|IPI; GO:1902166|P:negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP; GO:0090201|P:negative regulation of release of cytochrome c from mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(140230,'Experimental MF/BP Leaf Term GOA',NULL,16579,NULL,'GO:0045081|P:negative regulation of interleukin-10 biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(140231,'Experimental MF/BP Leaf Term GOA',NULL,16582,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140232,'Experimental MF/BP Leaf Term GOA',NULL,16584,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140233,'Experimental MF/BP Leaf Term GOA',NULL,16588,NULL,'GO:0030331|F:estrogen receptor binding|IPI; GO:0035035|F:histone acetyltransferase binding|IPI; GO:0030520|P:intracellular estrogen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140234,'Experimental MF/BP Leaf Term GOA',NULL,16595,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0004828|F:serine-tRNA ligase activity|IDA; GO:1904046|P:negative regulation of vascular endothelial growth factor production|IDA',NULL,NULL,NULL,NULL,NULL),(140235,'Experimental MF/BP Leaf Term GOA',NULL,16601,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0036435|F:K48-linked polyubiquitin modification-dependent protein binding|IDA; GO:0071796|F:K6-linked polyubiquitin modification-dependent protein binding|IDA; GO:1904855|F:proteasome regulatory particle binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:1903094|P:negative regulation of protein K48-linked deubiquitination|IDA; GO:2000157|P:negative regulation of ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(140236,'Experimental MF/BP Leaf Term GOA',NULL,16605,NULL,'GO:0052697|P:xenobiotic glucuronidation|IDA',NULL,NULL,NULL,NULL,NULL),(140237,'Experimental MF/BP Leaf Term GOA',NULL,16607,NULL,'GO:1990592|P:protein K69-linked ufmylation|IDA',NULL,NULL,NULL,NULL,NULL),(140238,'Experimental MF/BP Leaf Term GOA',NULL,16608,NULL,'GO:0004832|F:valine-tRNA ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140239,'Experimental MF/BP Leaf Term GOA',NULL,16610,NULL,'GO:0062069|F:GARP complex binding|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140240,'Experimental MF/BP Leaf Term GOA',NULL,16611,NULL,'GO:0044729|F:hemi-methylated DNA-binding|IDA; GO:0008327|F:methyl-CpG binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0010216|P:maintenance of DNA methylation|IMP; GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140241,'Experimental MF/BP Leaf Term GOA',NULL,16613,NULL,'GO:0051865|P:protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140242,'Experimental MF/BP Leaf Term GOA',NULL,16614,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0072545|F:tyrosine binding|IDA; GO:0004831|F:tyrosine-tRNA ligase activity|IDA; GO:0070184|P:mitochondrial tyrosyl-tRNA aminoacylation|IMP',NULL,NULL,NULL,NULL,NULL),(140243,'Experimental MF/BP Leaf Term GOA',NULL,16616,NULL,'GO:0070530|F:K63-linked polyubiquitin modification-dependent protein binding|IDA; GO:0070537|P:histone H2A K63-linked deubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(140244,'Experimental MF/BP Leaf Term GOA',NULL,16619,NULL,'GO:0030337|F:DNA polymerase processivity factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140245,'Experimental MF/BP Leaf Term GOA',NULL,16622,NULL,'GO:0042761|P:very long-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140246,'Experimental MF/BP Leaf Term GOA',NULL,16623,NULL,'GO:0042273|P:ribosomal large subunit biogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(140247,'Experimental MF/BP Leaf Term GOA',NULL,16625,NULL,'GO:0003810|F:protein-glutamine gamma-glutamyltransferase activity|IMP; GO:0043277|P:apoptotic cell clearance|IDA; GO:0051561|P:positive regulation of mitochondrial calcium ion concentration|IMP',NULL,NULL,NULL,NULL,NULL),(140248,'Experimental MF/BP Leaf Term GOA',NULL,16629,NULL,'GO:0070324|F:thyroid hormone binding|IDA; GO:0004887|F:thyroid hormone receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140249,'Experimental MF/BP Leaf Term GOA',NULL,16631,NULL,'GO:0003985|F:acetyl-CoA C-acetyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140250,'Experimental MF/BP Leaf Term GOA',NULL,16632,NULL,'GO:0030145|F:manganese ion binding|IDA; GO:0070006|F:metalloaminopeptidase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0010815|P:bradykinin catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140251,'Experimental MF/BP Leaf Term GOA',NULL,16637,NULL,'GO:0017147|F:Wnt-protein binding|IDA; GO:1904808|P:positive regulation of protein oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(140252,'Experimental MF/BP Leaf Term GOA',NULL,16638,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140253,'Experimental MF/BP Leaf Term GOA',NULL,16639,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP; GO:0033617|P:mitochondrial respiratory chain complex IV assembly|IMP; GO:0030150|P:protein import into mitochondrial matrix|IMP',NULL,NULL,NULL,NULL,NULL),(140254,'Experimental MF/BP Leaf Term GOA',NULL,16649,NULL,'GO:0061953|F:mRNA (adenine-N1-)-methyltransferase activity|IDA; GO:1990180|P:mitochondrial tRNA 3\'-end processing|IDA; GO:0097745|P:mitochondrial tRNA 5\'-end processing|IDA',NULL,NULL,NULL,NULL,NULL),(140255,'Experimental MF/BP Leaf Term GOA',NULL,16655,NULL,'GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0007252|P:I-kappaB phosphorylation|IDA; GO:0045356|P:positive regulation of interferon-alpha biosynthetic process|IDA; GO:0045359|P:positive regulation of interferon-beta biosynthetic process|IDA; GO:0045078|P:positive regulation of interferon-gamma biosynthetic process|IDA; GO:0045416|P:positive regulation of interleukin-8 biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(140256,'Experimental MF/BP Leaf Term GOA',NULL,16663,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140257,'Experimental MF/BP Leaf Term GOA',NULL,16666,NULL,'GO:0000045|P:autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140258,'Experimental MF/BP Leaf Term GOA',NULL,16671,NULL,'GO:0046982|F:protein heterodimerization activity|IMP; GO:0042803|F:protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(140259,'Experimental MF/BP Leaf Term GOA',NULL,16690,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0071353|P:cellular response to interleukin-4|IDA',NULL,NULL,NULL,NULL,NULL),(140260,'Experimental MF/BP Leaf Term GOA',NULL,16692,NULL,'GO:0044325|F:ion channel binding|IDA',NULL,NULL,NULL,NULL,NULL),(140261,'Experimental MF/BP Leaf Term GOA',NULL,16695,NULL,'GO:0003810|F:protein-glutamine gamma-glutamyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140262,'Experimental MF/BP Leaf Term GOA',NULL,16696,NULL,'GO:0070327|P:thyroid hormone transport|IMP',NULL,NULL,NULL,NULL,NULL),(140263,'Experimental MF/BP Leaf Term GOA',NULL,16698,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140264,'Experimental MF/BP Leaf Term GOA',NULL,16699,NULL,'GO:0003985|F:acetyl-CoA C-acetyltransferase activity|IDA; GO:0015937|P:coenzyme A biosynthetic process|IDA; GO:0006550|P:isoleucine catabolic process|IMP; GO:1902860|P:propionyl-CoA biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140265,'Experimental MF/BP Leaf Term GOA',NULL,16701,NULL,'GO:0008201|F:heparin binding|IDA; GO:0001530|F:lipopolysaccharide binding|IDA; GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0070053|F:thrombospondin receptor activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0051838|P:cytolysis by host of symbiont cells|IDA; GO:0042730|P:fibrinolysis|IDA; GO:1900016|P:negative regulation of cytokine production involved in inflammatory response|IDA; GO:0070945|P:neutrophil mediated killing of gram-negative bacterium|IDA; GO:0030168|P:platelet activation|IDA; GO:0032967|P:positive regulation of collagen biosynthetic process|IDA; GO:1900738|P:positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140266,'Experimental MF/BP Leaf Term GOA',NULL,16705,NULL,'GO:0008191|F:metalloendopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140267,'Experimental MF/BP Leaf Term GOA',NULL,16706,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140268,'Experimental MF/BP Leaf Term GOA',NULL,16708,NULL,'GO:0060136|P:embryonic process involved in female pregnancy|IMP',NULL,NULL,NULL,NULL,NULL),(140269,'Experimental MF/BP Leaf Term GOA',NULL,16711,NULL,'GO:0071889|F:14-3-3 protein binding|IDA; GO:0035925|F:mRNA 3\'-UTR AU-rich region binding|IDA; GO:0061158|P:3\'-UTR-mediated mRNA destabilization|IDA; GO:0071320|P:cellular response to cAMP|IDA; GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA; GO:0071456|P:cellular response to hypoxia|IMP; GO:0032869|P:cellular response to insulin stimulus|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IDA; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IDA; GO:0045657|P:positive regulation of monocyte differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(140270,'Experimental MF/BP Leaf Term GOA',NULL,16717,NULL,'GO:0044325|F:ion channel binding|IDA',NULL,NULL,NULL,NULL,NULL),(140271,'Experimental MF/BP Leaf Term GOA',NULL,16720,NULL,'GO:0044183|F:protein binding involved in protein folding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0051086|P:chaperone mediated protein folding independent of cofactor|IMP; GO:0051131|P:chaperone-mediated protein complex assembly|IMP; GO:1904874|P:positive regulation of telomerase RNA localization to Cajal body|IMP; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP; GO:0050821|P:protein stabilization|IMP; GO:0090666|P:scaRNA localization to Cajal body|IMP',NULL,NULL,NULL,NULL,NULL),(140272,'Experimental MF/BP Leaf Term GOA',NULL,16722,NULL,'GO:1904874|P:positive regulation of telomerase RNA localization to Cajal body|IMP; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP; GO:0050821|P:protein stabilization|IMP; GO:0090666|P:scaRNA localization to Cajal body|IMP',NULL,NULL,NULL,NULL,NULL),(140273,'Experimental MF/BP Leaf Term GOA',NULL,16723,NULL,'GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(140274,'Experimental MF/BP Leaf Term GOA',NULL,16732,NULL,'GO:0039706|F:co-receptor binding|IPI; GO:0004998|F:transferrin receptor activity|IDA; GO:0033572|P:transferrin transport|IGI',NULL,NULL,NULL,NULL,NULL),(140275,'Experimental MF/BP Leaf Term GOA',NULL,16733,NULL,'GO:0034713|F:type I transforming growth factor beta receptor binding|IMP; GO:0005114|F:type II transforming growth factor beta receptor binding|IDA; GO:0034714|F:type III transforming growth factor beta receptor binding|IMP; GO:0003180|P:aortic valve morphogenesis|IMP; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:0007182|P:common-partner SMAD protein phosphorylation|IDA; GO:0030214|P:hyaluronan catabolic process|IDA; GO:0031663|P:lipopolysaccharide-mediated signaling pathway|IDA; GO:1900126|P:negative regulation of hyaluronan biosynthetic process|IDA; GO:0010936|P:negative regulation of macrophage cytokine production|IDA; GO:0043932|P:ossification involved in bone remodeling|IEP; GO:0060389|P:pathway-restricted SMAD protein phosphorylation|IDA; GO:0032967|P:positive regulation of collagen biosynthetic process|IDA; GO:0048298|P:positive regulation of isotype switching to IgA isotypes|IDA; GO:1901666|P:positive regulation of NAD+ ADP-ribosyltransferase activity|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IDA; GO:0042307|P:positive regulation of protein import into nucleus|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:0060391|P:positive regulation of SMAD protein signal transduction|IDA; GO:0032930|P:positive regulation of superoxide anion generation|IDA; GO:0043117|P:positive regulation of vascular permeability|IDA; GO:0000060|P:protein import into nucleus, translocation|IDA; GO:0043491|P:protein kinase B signaling|IMP; GO:0007183|P:SMAD protein complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140276,'Experimental MF/BP Leaf Term GOA',NULL,16736,NULL,'GO:0090102|P:cochlea development|IGI; GO:0090103|P:cochlea morphogenesis|IGI; GO:1905748|P:hard palate morphogenesis|IGI; GO:0098583|P:learned vocalization behavior|IGI; GO:0071626|P:mastication|IGI; GO:1905747|P:negative regulation of saliva secretion|IGI; GO:0050885|P:neuromuscular process controlling balance|IGI; GO:0007356|P:thorax and anterior abdomen determination|IGI; GO:0021559|P:trigeminal nerve development|IGI; GO:0021650|P:vestibulocochlear nerve formation|IGI',NULL,NULL,NULL,NULL,NULL),(140277,'Experimental MF/BP Leaf Term GOA',NULL,16738,NULL,'GO:0010836|P:negative regulation of protein ADP-ribosylation|IDA; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IMP; GO:0016233|P:telomere capping|IMP',NULL,NULL,NULL,NULL,NULL),(140278,'Experimental MF/BP Leaf Term GOA',NULL,16740,NULL,'GO:0034012|F:FAD-AMP lyase (cyclizing) activity|IDA; GO:0004371|F:glycerone kinase activity|IDA; GO:0050354|F:triokinase activity|IDA; GO:0039534|P:negative regulation of MDA-5 signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140279,'Experimental MF/BP Leaf Term GOA',NULL,16742,NULL,'GO:0035800|F:deubiquitinase activator activity|IMP; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0071347|P:cellular response to interleukin-1|IMP; GO:0071356|P:cellular response to tumor necrosis factor|IMP; GO:2000158|P:positive regulation of ubiquitin-specific protease activity|IMP',NULL,NULL,NULL,NULL,NULL),(140280,'Experimental MF/BP Leaf Term GOA',NULL,16745,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0051879|F:Hsp90 protein binding|IPI; GO:0099609|F:microtubule lateral binding|IMP; GO:0042803|F:protein homodimerization activity|IMP; GO:0017124|F:SH3 domain binding|IPI; GO:1990000|P:amyloid fibril formation|IMP; GO:0048312|P:intracellular distribution of mitochondria|IMP; GO:0046785|P:microtubule polymerization|IDA; GO:0090258|P:negative regulation of mitochondrial fission|IMP; GO:0010917|P:negative regulation of mitochondrial membrane potential|IMP; GO:0032930|P:positive regulation of superoxide anion generation|IMP',NULL,NULL,NULL,NULL,NULL),(140281,'Experimental MF/BP Leaf Term GOA',NULL,16751,NULL,'GO:0005524|F:ATP binding|IDA; GO:0033857|F:diphosphoinositol-pentakisphosphate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140282,'Experimental MF/BP Leaf Term GOA',NULL,16756,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(140283,'Experimental MF/BP Leaf Term GOA',NULL,16757,NULL,'GO:0046697|P:decidualization|IMP',NULL,NULL,NULL,NULL,NULL),(140284,'Experimental MF/BP Leaf Term GOA',NULL,16759,NULL,'GO:0045505|F:dynein intermediate chain binding|IPI',NULL,NULL,NULL,NULL,NULL),(140285,'Experimental MF/BP Leaf Term GOA',NULL,16761,NULL,'GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(140286,'Experimental MF/BP Leaf Term GOA',NULL,16762,NULL,'GO:0043539|F:protein serine/threonine kinase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(140287,'Experimental MF/BP Leaf Term GOA',NULL,16764,NULL,'GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0035329|P:hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(140288,'Experimental MF/BP Leaf Term GOA',NULL,16765,NULL,'GO:0045545|F:syndecan binding|IDA',NULL,NULL,NULL,NULL,NULL),(140289,'Experimental MF/BP Leaf Term GOA',NULL,16768,NULL,'GO:0070182|F:DNA polymerase binding|IPI; GO:0051879|F:Hsp90 protein binding|IPI; GO:0050220|F:prostaglandin-E synthase activity|IDA; GO:0003720|F:telomerase activity|IDA; GO:0051082|F:unfolded protein binding|IDA; GO:0051085|P:chaperone cofactor-dependent protein refolding|IDA; GO:0051131|P:chaperone-mediated protein complex assembly|IMP; GO:0050821|P:protein stabilization|IMP; GO:0007004|P:telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(140290,'Experimental MF/BP Leaf Term GOA',NULL,16770,NULL,'GO:0030224|P:monocyte differentiation|IDA; GO:0046784|P:viral mRNA export from host cell nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(140291,'Experimental MF/BP Leaf Term GOA',NULL,16772,NULL,'GO:0016973|P:poly(A)+ mRNA export from nucleus|IDA; GO:0046784|P:viral mRNA export from host cell nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(140292,'Experimental MF/BP Leaf Term GOA',NULL,16773,NULL,'GO:0046784|P:viral mRNA export from host cell nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(140293,'Experimental MF/BP Leaf Term GOA',NULL,16776,NULL,'GO:0030878|P:thyroid gland development|IEP',NULL,NULL,NULL,NULL,NULL),(140294,'Experimental MF/BP Leaf Term GOA',NULL,16780,NULL,'GO:0017162|F:aryl hydrocarbon receptor binding|IPI; GO:0016251|F:RNA polymerase II general transcription initiation factor activity|IDA; GO:0000995|F:RNA polymerase III general transcription initiation factor activity|IMP; GO:0001093|F:TFIIB-class transcription factor binding|IPI; GO:0051123|P:RNA polymerase II preinitiation complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140295,'Experimental MF/BP Leaf Term GOA',NULL,16781,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0001042|F:RNA polymerase I core binding|IDA; GO:0097110|F:scaffold protein binding|IPI; GO:0014029|P:neural crest formation|IMP',NULL,NULL,NULL,NULL,NULL),(140296,'Experimental MF/BP Leaf Term GOA',NULL,16785,NULL,'GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IDA; GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IDA; GO:0098942|P:retrograde trans-synaptic signaling by trans-synaptic protein complex|IDA',NULL,NULL,NULL,NULL,NULL),(140297,'Experimental MF/BP Leaf Term GOA',NULL,16787,NULL,'GO:0098633|F:collagen fibril binding|IDA; GO:0048251|P:elastic fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140298,'Experimental MF/BP Leaf Term GOA',NULL,16788,NULL,'GO:0002039|F:p53 binding|IPI',NULL,NULL,NULL,NULL,NULL),(140299,'Experimental MF/BP Leaf Term GOA',NULL,16790,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0045741|P:positive regulation of epidermal growth factor-activated receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140300,'Experimental MF/BP Leaf Term GOA',NULL,16792,NULL,'GO:0050681|F:androgen receptor binding|IPI; GO:0070411|F:I-SMAD binding|IPI; GO:0048495|F:Roundabout binding|IPI; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IDA; GO:0030579|P:ubiquitin-dependent SMAD protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140301,'Experimental MF/BP Leaf Term GOA',NULL,16793,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140302,'Experimental MF/BP Leaf Term GOA',NULL,16796,NULL,'GO:0007417|P:central nervous system development|IMP; GO:0046784|P:viral mRNA export from host cell nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(140303,'Experimental MF/BP Leaf Term GOA',NULL,16797,NULL,'GO:0046784|P:viral mRNA export from host cell nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(140304,'Experimental MF/BP Leaf Term GOA',NULL,16799,NULL,'GO:1903608|P:protein localization to cytoplasmic stress granule|IMP',NULL,NULL,NULL,NULL,NULL),(140305,'Experimental MF/BP Leaf Term GOA',NULL,16800,NULL,'GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IDA',NULL,NULL,NULL,NULL,NULL),(140306,'Experimental MF/BP Leaf Term GOA',NULL,16801,NULL,'GO:0070087|F:chromo shadow domain binding|IPI; GO:0035851|F:Krueppel-associated box domain binding|IDA; GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0090309|P:positive regulation of methylation-dependent chromatin silencing|IMP; GO:0042307|P:positive regulation of protein import into nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(140307,'Experimental MF/BP Leaf Term GOA',NULL,16807,NULL,'GO:0090630|P:activation of GTPase activity|IDA; GO:0051298|P:centrosome duplication|IMP; GO:0090307|P:mitotic spindle assembly|IMP; GO:0022011|P:myelination in peripheral nervous system|IMP; GO:0051496|P:positive regulation of stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140308,'Experimental MF/BP Leaf Term GOA',NULL,16810,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140309,'Experimental MF/BP Leaf Term GOA',NULL,16812,NULL,'GO:0004067|F:asparaginase activity|IDA; GO:0008798|F:beta-aspartyl-peptidase activity|IDA; GO:0033345|P:asparagine catabolic process via L-aspartate|IDA',NULL,NULL,NULL,NULL,NULL),(140310,'Experimental MF/BP Leaf Term GOA',NULL,16816,NULL,'GO:0051537|F:2 iron, 2 sulfur cluster binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140311,'Experimental MF/BP Leaf Term GOA',NULL,16822,NULL,'GO:0042975|F:peroxisome proliferator activated receptor binding|IDA; GO:0035360|P:positive regulation of peroxisome proliferator activated receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140312,'Experimental MF/BP Leaf Term GOA',NULL,16824,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0044548|F:S100 protein binding|IPI; GO:1903515|P:calcium ion transport from cytosol to endoplasmic reticulum|IDA; GO:0055119|P:relaxation of cardiac muscle|IDA',NULL,NULL,NULL,NULL,NULL),(140313,'Experimental MF/BP Leaf Term GOA',NULL,16828,NULL,'GO:0001618|F:virus receptor activity|IMP; GO:0070830|P:bicellular tight junction assembly|IMP; GO:0061436|P:establishment of skin barrier|IMP',NULL,NULL,NULL,NULL,NULL),(140314,'Experimental MF/BP Leaf Term GOA',NULL,16831,NULL,'GO:0050459|F:ethanolamine-phosphate phospho-lyase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140315,'Experimental MF/BP Leaf Term GOA',NULL,16833,NULL,'GO:0061436|P:establishment of skin barrier|IMP',NULL,NULL,NULL,NULL,NULL),(140316,'Experimental MF/BP Leaf Term GOA',NULL,16836,NULL,'GO:0001618|F:virus receptor activity|IMP',NULL,NULL,NULL,NULL,NULL),(140317,'Experimental MF/BP Leaf Term GOA',NULL,16842,NULL,'GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(140318,'Experimental MF/BP Leaf Term GOA',NULL,16845,NULL,'GO:0000045|P:autophagosome assembly|IGI; GO:0051697|P:protein delipidation|IDA',NULL,NULL,NULL,NULL,NULL),(140319,'Experimental MF/BP Leaf Term GOA',NULL,16847,NULL,'GO:0000045|P:autophagosome assembly|IGI',NULL,NULL,NULL,NULL,NULL),(140320,'Experimental MF/BP Leaf Term GOA',NULL,16852,NULL,'GO:0005537|F:mannose binding|IDA; GO:0007420|P:brain development|IEP; GO:0007042|P:lysosomal lumen acidification|IMP',NULL,NULL,NULL,NULL,NULL),(140321,'Experimental MF/BP Leaf Term GOA',NULL,16853,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0007042|P:lysosomal lumen acidification|IMP',NULL,NULL,NULL,NULL,NULL),(140322,'Experimental MF/BP Leaf Term GOA',NULL,16855,NULL,'GO:0000045|P:autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140323,'Experimental MF/BP Leaf Term GOA',NULL,16856,NULL,'GO:0070888|F:E-box binding|IDA; GO:0032922|P:circadian regulation of gene expression|IDA',NULL,NULL,NULL,NULL,NULL),(140324,'Experimental MF/BP Leaf Term GOA',NULL,16859,NULL,'GO:1903373|P:positive regulation of endoplasmic reticulum tubular network organization|IMP',NULL,NULL,NULL,NULL,NULL),(140325,'Experimental MF/BP Leaf Term GOA',NULL,16860,NULL,'GO:0070840|F:dynein complex binding|IPI',NULL,NULL,NULL,NULL,NULL),(140326,'Experimental MF/BP Leaf Term GOA',NULL,16861,NULL,'GO:0016303|F:1-phosphatidylinositol-3-kinase activity|IMP; GO:0004677|F:DNA-dependent protein kinase activity|IDA; GO:0071480|P:cellular response to gamma radiation|IDA; GO:0071481|P:cellular response to X-ray|IDA; GO:0006975|P:DNA damage induced protein phosphorylation|IDA; GO:0097694|P:establishment of RNA localization to telomere|IMP; GO:0007094|P:mitotic spindle assembly checkpoint|IMP; GO:0030889|P:negative regulation of B cell proliferation|IMP; GO:1904262|P:negative regulation of TORC1 signaling|IMP; GO:1904884|P:positive regulation of telomerase catalytic core complex assembly|IMP; GO:0090399|P:replicative senescence|IMP; GO:0072434|P:signal transduction involved in mitotic G2 DNA damage checkpoint|IMP',NULL,NULL,NULL,NULL,NULL),(140327,'Experimental MF/BP Leaf Term GOA',NULL,16864,NULL,'GO:0070888|F:E-box binding|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IGI; GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(140328,'Experimental MF/BP Leaf Term GOA',NULL,16865,NULL,'GO:0032767|F:copper-dependent protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(140329,'Experimental MF/BP Leaf Term GOA',NULL,16871,NULL,'GO:0005524|F:ATP binding|IDA; GO:0051208|P:sequestering of calcium ion|IDA',NULL,NULL,NULL,NULL,NULL),(140330,'Experimental MF/BP Leaf Term GOA',NULL,16873,NULL,'GO:0016208|F:AMP binding|IDA',NULL,NULL,NULL,NULL,NULL),(140331,'Experimental MF/BP Leaf Term GOA',NULL,16874,NULL,'GO:0015254|F:glycerol channel activity|IDA; GO:0015250|F:water channel activity|EXP; GO:0071456|P:cellular response to hypoxia|IDA',NULL,NULL,NULL,NULL,NULL),(140332,'Experimental MF/BP Leaf Term GOA',NULL,16875,NULL,'GO:0033344|P:cholesterol efflux|IDA; GO:0034382|P:chylomicron remnant clearance|IDA; GO:0051005|P:negative regulation of lipoprotein lipase activity|IDA; GO:0010900|P:negative regulation of phosphatidylcholine catabolic process|IDA; GO:0010916|P:negative regulation of very-low-density lipoprotein particle clearance|IDA; GO:0033700|P:phospholipid efflux|IDA; GO:0034447|P:very-low-density lipoprotein particle clearance|IGI',NULL,NULL,NULL,NULL,NULL),(140333,'Experimental MF/BP Leaf Term GOA',NULL,16876,NULL,'GO:0015254|F:glycerol channel activity|EXP; GO:0015265|F:urea channel activity|EXP; GO:0015250|F:water channel activity|IDA; GO:0071320|P:cellular response to cAMP|IEP',NULL,NULL,NULL,NULL,NULL),(140334,'Experimental MF/BP Leaf Term GOA',NULL,16877,NULL,'GO:0097718|F:disordered domain specific binding|IPI; GO:0097371|F:MDM2/MDM4 family protein binding|IPI; GO:0002039|F:p53 binding|IPI; GO:1990948|F:ubiquitin ligase inhibitor activity|IDA; GO:1990000|P:amyloid fibril formation|IMP; GO:0051882|P:mitochondrial depolarization|IMP; GO:2000435|P:negative regulation of protein neddylation|IDA; GO:1904667|P:negative regulation of ubiquitin protein ligase activity|IDA; GO:0031648|P:protein destabilization|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(140335,'Experimental MF/BP Leaf Term GOA',NULL,16880,NULL,'GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(140336,'Experimental MF/BP Leaf Term GOA',NULL,16883,NULL,'GO:0005537|F:mannose binding|IDA',NULL,NULL,NULL,NULL,NULL),(140337,'Experimental MF/BP Leaf Term GOA',NULL,16886,NULL,'GO:0032050|F:clathrin heavy chain binding|IPI',NULL,NULL,NULL,NULL,NULL),(140338,'Experimental MF/BP Leaf Term GOA',NULL,16888,NULL,'GO:0035522|P:monoubiquitinated histone H2A deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140339,'Experimental MF/BP Leaf Term GOA',NULL,16889,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0006883|P:cellular sodium ion homeostasis|IDA; GO:1903288|P:positive regulation of potassium ion import across plasma membrane|IDA; GO:1903278|P:positive regulation of sodium ion export across plasma membrane|IDA; GO:1990573|P:potassium ion import across plasma membrane|IDA; GO:0050821|P:protein stabilization|IDA; GO:0036376|P:sodium ion export across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140340,'Experimental MF/BP Leaf Term GOA',NULL,16891,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0006883|P:cellular sodium ion homeostasis|IDA; GO:1990573|P:potassium ion import across plasma membrane|IDA; GO:0036376|P:sodium ion export across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140341,'Experimental MF/BP Leaf Term GOA',NULL,16892,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0051659|P:maintenance of mitochondrion location|IMP; GO:0031448|P:positive regulation of fast-twitch skeletal muscle fiber contraction|IDA; GO:0051561|P:positive regulation of mitochondrial calcium ion concentration|IMP; GO:0090076|P:relaxation of skeletal muscle|IDA',NULL,NULL,NULL,NULL,NULL),(140342,'Experimental MF/BP Leaf Term GOA',NULL,16893,NULL,'GO:0030165|F:PDZ domain binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0072320|F:volume-sensitive chloride channel activity|IMP; GO:1902476|P:chloride transmembrane transport|IDA; GO:0045794|P:negative regulation of cell volume|IMP',NULL,NULL,NULL,NULL,NULL),(140343,'Experimental MF/BP Leaf Term GOA',NULL,16898,NULL,'GO:1905056|F:calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration|IDA; GO:1990034|P:calcium ion export across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140344,'Experimental MF/BP Leaf Term GOA',NULL,16900,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0050998|F:nitric-oxide synthase binding|IPI; GO:0036487|F:nitric-oxide synthase inhibitor activity|IDA; GO:0030346|F:protein phosphatase 2B binding|IDA; GO:0071872|P:cellular response to epinephrine stimulus|IDA; GO:0140199|P:negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process|IDA; GO:0070885|P:negative regulation of calcineurin-NFAT signaling cascade|IDA; GO:1903243|P:negative regulation of cardiac muscle hypertrophy in response to stress|IMP; GO:1903249|P:negative regulation of citrulline biosynthetic process|IDA; GO:0045019|P:negative regulation of nitric oxide biosynthetic process|IDA; GO:0010751|P:negative regulation of nitric oxide mediated signal transduction|IDA; GO:0051001|P:negative regulation of nitric-oxide synthase activity|IDA; GO:0098736|P:negative regulation of the force of heart contraction|IDA; GO:2000481|P:positive regulation of cAMP-dependent protein kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140345,'Experimental MF/BP Leaf Term GOA',NULL,16902,NULL,'GO:0005524|F:ATP binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0015410|F:manganese-transporting ATPase activity|IDA; GO:0031532|P:actin cytoskeleton reorganization|IMP; GO:0016339|P:calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules|IMP; GO:0030026|P:cellular manganese ion homeostasis|IDA; GO:0032468|P:Golgi calcium ion homeostasis|IMP',NULL,NULL,NULL,NULL,NULL),(140346,'Experimental MF/BP Leaf Term GOA',NULL,16906,NULL,'GO:0070830|P:bicellular tight junction assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140347,'Experimental MF/BP Leaf Term GOA',NULL,16907,NULL,'GO:1903142|P:positive regulation of establishment of endothelial barrier|IMP',NULL,NULL,NULL,NULL,NULL),(140348,'Experimental MF/BP Leaf Term GOA',NULL,16908,NULL,'GO:0001618|F:virus receptor activity|IMP',NULL,NULL,NULL,NULL,NULL),(140349,'Experimental MF/BP Leaf Term GOA',NULL,16909,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:1903984|P:positive regulation of TRAIL-activated apoptotic signaling pathway|IMP; GO:1990440|P:positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress|IDA',NULL,NULL,NULL,NULL,NULL),(140350,'Experimental MF/BP Leaf Term GOA',NULL,16910,NULL,'GO:0046326|P:positive regulation of glucose import|IMP',NULL,NULL,NULL,NULL,NULL),(140351,'Experimental MF/BP Leaf Term GOA',NULL,16911,NULL,'GO:0051010|F:microtubule plus-end binding|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140352,'Experimental MF/BP Leaf Term GOA',NULL,16913,NULL,'GO:0018230|P:peptidyl-L-cysteine S-palmitoylation|IMP',NULL,NULL,NULL,NULL,NULL),(140353,'Experimental MF/BP Leaf Term GOA',NULL,16916,NULL,'GO:0034125|P:negative regulation of MyD88-dependent toll-like receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140354,'Experimental MF/BP Leaf Term GOA',NULL,16919,NULL,'GO:0000045|P:autophagosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140355,'Experimental MF/BP Leaf Term GOA',NULL,16920,NULL,'GO:0000045|P:autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140356,'Experimental MF/BP Leaf Term GOA',NULL,16921,NULL,'GO:0043532|F:angiostatin binding|IDA; GO:0051117|F:ATPase binding|IDA; GO:0140260|F:mitochondrial proton-transporting ATP synthase complex binding|IDA; GO:0051882|P:mitochondrial depolarization|IMP',NULL,NULL,NULL,NULL,NULL),(140357,'Experimental MF/BP Leaf Term GOA',NULL,16923,NULL,'GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(140358,'Experimental MF/BP Leaf Term GOA',NULL,16924,NULL,'GO:0051736|F:ATP-dependent polyribonucleotide 5\'-hydroxyl-kinase activity|IDA; GO:0021695|P:cerebellar cortex development|IMP; GO:0035087|P:siRNA loading onto RISC involved in RNA interference|IDA; GO:0030423|P:targeting of mRNA for destruction involved in RNA interference|IMP; GO:0006388|P:tRNA splicing, via endonucleolytic cleavage and ligation|IDA',NULL,NULL,NULL,NULL,NULL),(140359,'Experimental MF/BP Leaf Term GOA',NULL,16925,NULL,'GO:1990809|P:endoplasmic reticulum tubular network membrane organization|IMP',NULL,NULL,NULL,NULL,NULL),(140360,'Experimental MF/BP Leaf Term GOA',NULL,16926,NULL,'GO:1990809|P:endoplasmic reticulum tubular network membrane organization|IMP',NULL,NULL,NULL,NULL,NULL),(140361,'Experimental MF/BP Leaf Term GOA',NULL,16931,NULL,'GO:0032767|F:copper-dependent protein binding|IPI; GO:1903136|F:cuprous ion binding|IMP',NULL,NULL,NULL,NULL,NULL),(140362,'Experimental MF/BP Leaf Term GOA',NULL,16934,NULL,'GO:0060230|F:lipoprotein lipase activator activity|IDA; GO:0043274|F:phospholipase binding|IPI; GO:0042803|F:protein homodimerization activity|IMP; GO:0033344|P:cholesterol efflux|IDA; GO:0034382|P:chylomicron remnant clearance|IDA; GO:0034384|P:high-density lipoprotein particle clearance|IMP; GO:0010916|P:negative regulation of very-low-density lipoprotein particle clearance|IDA; GO:0033700|P:phospholipid efflux|IDA; GO:0051006|P:positive regulation of lipoprotein lipase activity|IDA; GO:0010898|P:positive regulation of triglyceride catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140363,'Experimental MF/BP Leaf Term GOA',NULL,16935,NULL,'GO:0070979|P:protein K11-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140364,'Experimental MF/BP Leaf Term GOA',NULL,16937,NULL,'GO:0001540|F:amyloid-beta binding|IDA; GO:0008201|F:heparin binding|IDA; GO:0050750|F:low-density lipoprotein particle receptor binding|IDA; GO:0046911|F:metal chelating activity|IDA; GO:0060228|F:phosphatidylcholine-sterol O-acyltransferase activator activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0048156|F:tau protein binding|IPI; GO:0070326|F:very-low-density lipoprotein particle receptor binding|IDA; GO:0097113|P:AMPA glutamate receptor clustering|IDA; GO:0033344|P:cholesterol efflux|IDA; GO:0042632|P:cholesterol homeostasis|IDA; GO:0034382|P:chylomicron remnant clearance|IMP; GO:0055089|P:fatty acid homeostasis|IDA; GO:0034380|P:high-density lipoprotein particle assembly|IDA; GO:0034384|P:high-density lipoprotein particle clearance|IDA; GO:0035641|P:locomotory exploration behavior|IMP; GO:0007616|P:long-term memory|IGI; GO:1902430|P:negative regulation of amyloid-beta formation|IDA; GO:0045541|P:negative regulation of cholesterol biosynthetic process|IDA; GO:0090370|P:negative regulation of cholesterol efflux|IDA; GO:1902951|P:negative regulation of dendritic spine maintenance|IDA; GO:1903001|P:negative regulation of lipid transport across blood-brain barrier|IDA; GO:1900272|P:negative regulation of long-term synaptic potentiation|IDA; GO:1902999|P:negative regulation of phospholipid efflux|IDA; GO:1901630|P:negative regulation of presynaptic membrane organization|IDA; GO:0097114|P:NMDA glutamate receptor clustering|IDA; GO:0033700|P:phospholipid efflux|IDA; GO:1902004|P:positive regulation of amyloid-beta formation|IDA; GO:0010875|P:positive regulation of cholesterol efflux|IDA; GO:0010873|P:positive regulation of cholesterol esterification|IDA; GO:1902952|P:positive regulation of dendritic spine maintenance|IDA; GO:1905855|P:positive regulation of heparan sulfate binding|IDA; GO:1905860|P:positive regulation of heparan sulfate proteoglycan binding|IDA; GO:1903002|P:positive regulation of lipid transport across blood-brain barrier|IDA; GO:0032805|P:positive regulation of low-density lipoprotein particle receptor catabolic process|IDA; GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IDA; GO:1902998|P:positive regulation of neurofibrillary tangle assembly|IDA; GO:0051000|P:positive regulation of nitric-oxide synthase activity|IDA; GO:1902995|P:positive regulation of phospholipid efflux|IDA; GO:1901631|P:positive regulation of presynaptic membrane organization|IDA; GO:0032489|P:regulation of Cdc42 protein signal transduction|IDA; GO:0043691|P:reverse cholesterol transport|IDA; GO:0034447|P:very-low-density lipoprotein particle clearance|IDA; GO:0034372|P:very-low-density lipoprotein particle remodeling|IDA; GO:0019068|P:virion assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140365,'Experimental MF/BP Leaf Term GOA',NULL,16943,NULL,'GO:0051496|P:positive regulation of stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140366,'Experimental MF/BP Leaf Term GOA',NULL,16945,NULL,'GO:0031699|F:beta-3 adrenergic receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(140367,'Experimental MF/BP Leaf Term GOA',NULL,16946,NULL,'GO:0008427|F:calcium-dependent protein kinase inhibitor activity|IMP; GO:0071356|P:cellular response to tumor necrosis factor|IMP; GO:0007113|P:endomitotic cell cycle|IDA; GO:0070886|P:positive regulation of calcineurin-NFAT signaling cascade|IDA; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(140368,'Experimental MF/BP Leaf Term GOA',NULL,16947,NULL,'GO:2000393|P:negative regulation of lamellipodium morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(140369,'Experimental MF/BP Leaf Term GOA',NULL,16948,NULL,'GO:0006335|P:DNA replication-dependent nucleosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140370,'Experimental MF/BP Leaf Term GOA',NULL,16951,NULL,'GO:0008013|F:beta-catenin binding|IDA',NULL,NULL,NULL,NULL,NULL),(140371,'Experimental MF/BP Leaf Term GOA',NULL,16952,NULL,'GO:0050915|P:sensory perception of sour taste|IMP',NULL,NULL,NULL,NULL,NULL),(140372,'Experimental MF/BP Leaf Term GOA',NULL,16963,NULL,'GO:0008427|F:calcium-dependent protein kinase inhibitor activity|IMP; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP',NULL,NULL,NULL,NULL,NULL),(140373,'Experimental MF/BP Leaf Term GOA',NULL,16966,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0043015|F:gamma-tubulin binding|IDA; GO:0007099|P:centriole replication|IMP; GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(140374,'Experimental MF/BP Leaf Term GOA',NULL,16967,NULL,'GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(140375,'Experimental MF/BP Leaf Term GOA',NULL,16971,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0048246|P:macrophage chemotaxis|IDA; GO:0030593|P:neutrophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(140376,'Experimental MF/BP Leaf Term GOA',NULL,16980,NULL,'GO:1904262|P:negative regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(140377,'Experimental MF/BP Leaf Term GOA',NULL,16985,NULL,'GO:0002769|P:natural killer cell inhibitory signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140378,'Experimental MF/BP Leaf Term GOA',NULL,16988,NULL,'GO:0002162|F:dystroglycan binding|IPI; GO:0051010|F:microtubule plus-end binding|IDA; GO:0010458|P:exit from mitosis|IMP; GO:0051895|P:negative regulation of focal adhesion assembly|IMP; GO:0051497|P:negative regulation of stress fiber assembly|IMP; GO:1903690|P:negative regulation of wound healing, spreading of epidermal cells|IMP; GO:1904261|P:positive regulation of basement membrane assembly involved in embryonic body morphogenesis|IMP; GO:0090091|P:positive regulation of extracellular matrix disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(140379,'Experimental MF/BP Leaf Term GOA',NULL,16991,NULL,'GO:1990430|F:extracellular matrix protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(140380,'Experimental MF/BP Leaf Term GOA',NULL,16998,NULL,'GO:0001618|F:virus receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140381,'Experimental MF/BP Leaf Term GOA',NULL,17008,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0006883|P:cellular sodium ion homeostasis|IDA; GO:1903288|P:positive regulation of potassium ion import across plasma membrane|IDA; GO:1903278|P:positive regulation of sodium ion export across plasma membrane|IDA; GO:1990573|P:potassium ion import across plasma membrane|IDA; GO:0050821|P:protein stabilization|IDA; GO:0036376|P:sodium ion export across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140382,'Experimental MF/BP Leaf Term GOA',NULL,17016,NULL,'GO:0004468|F:lysine N-acetyltransferase activity, acting on acetyl phosphate as donor|IDA; GO:0019799|F:tubulin N-acetyltransferase activity|IDA; GO:0071929|P:alpha-tubulin acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(140383,'Experimental MF/BP Leaf Term GOA',NULL,17017,NULL,'GO:0000045|P:autophagosome assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140384,'Experimental MF/BP Leaf Term GOA',NULL,17020,NULL,'GO:0043522|F:leucine zipper domain binding|IDA; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:1903351|P:cellular response to dopamine|IMP; GO:1990440|P:positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress|IDA; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IMP',NULL,NULL,NULL,NULL,NULL),(140385,'Experimental MF/BP Leaf Term GOA',NULL,17021,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:1903893|P:positive regulation of ATF6-mediated unfolded protein response|IDA; GO:1990440|P:positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress|IDA',NULL,NULL,NULL,NULL,NULL),(140386,'Experimental MF/BP Leaf Term GOA',NULL,17022,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140387,'Experimental MF/BP Leaf Term GOA',NULL,17025,NULL,'GO:0071277|P:cellular response to calcium ion|IMP',NULL,NULL,NULL,NULL,NULL),(140388,'Experimental MF/BP Leaf Term GOA',NULL,17032,NULL,'GO:0008429|F:phosphatidylethanolamine binding|IDA; GO:0001786|F:phosphatidylserine binding|IDA; GO:1902569|P:negative regulation of activation of Janus kinase activity|IDA; GO:0030889|P:negative regulation of B cell proliferation|IMP; GO:0050859|P:negative regulation of B cell receptor signaling pathway|IDA; GO:0034125|P:negative regulation of MyD88-dependent toll-like receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140389,'Experimental MF/BP Leaf Term GOA',NULL,17036,NULL,'GO:0003407|P:neural retina development|IMP; GO:0021554|P:optic nerve development|IMP',NULL,NULL,NULL,NULL,NULL),(140390,'Experimental MF/BP Leaf Term GOA',NULL,17037,NULL,'GO:0005229|F:intracellular calcium activated chloride channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(140391,'Experimental MF/BP Leaf Term GOA',NULL,17038,NULL,'GO:0005229|F:intracellular calcium activated chloride channel activity|IMP',NULL,NULL,NULL,NULL,NULL),(140392,'Experimental MF/BP Leaf Term GOA',NULL,17042,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0070653|F:high-density lipoprotein particle receptor binding|IPI; GO:0031210|F:phosphatidylcholine binding|IDA; GO:0060228|F:phosphatidylcholine-sterol O-acyltransferase activator activity|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0033344|P:cholesterol efflux|IDA; GO:0042632|P:cholesterol homeostasis|IDA; GO:0046340|P:diacylglycerol catabolic process|IDA; GO:0034380|P:high-density lipoprotein particle assembly|IDA; GO:0034384|P:high-density lipoprotein particle clearance|IDA; GO:0034374|P:low-density lipoprotein particle remodeling|IDA; GO:0060621|P:negative regulation of cholesterol import|IDA; GO:0060695|P:negative regulation of cholesterol transporter activity|IDA; GO:0002740|P:negative regulation of cytokine secretion involved in immune response|IDA; GO:0010903|P:negative regulation of very-low-density lipoprotein particle remodeling|IDA; GO:0033700|P:phospholipid efflux|IDA; GO:0010873|P:positive regulation of cholesterol esterification|IDA; GO:0045416|P:positive regulation of interleukin-8 biosynthetic process|IDA; GO:0043691|P:reverse cholesterol transport|IDA',NULL,NULL,NULL,NULL,NULL),(140393,'Experimental MF/BP Leaf Term GOA',NULL,17043,NULL,'GO:0033699|F:DNA 5\'-adenosine monophosphate hydrolase activity|IDA; GO:0008967|F:phosphoglycolate phosphatase activity|IDA; GO:0046403|F:polynucleotide 3\'-phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140394,'Experimental MF/BP Leaf Term GOA',NULL,17045,NULL,'GO:0031210|F:phosphatidylcholine binding|IMP; GO:0042803|F:protein homodimerization activity|IMP; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0061952|P:midbody abscission|IMP; GO:0061763|P:multivesicular body-lysosome fusion|IMP; GO:0039702|P:viral budding via host ESCRT complex|IDA',NULL,NULL,NULL,NULL,NULL),(140395,'Experimental MF/BP Leaf Term GOA',NULL,17048,NULL,'GO:0046975|F:histone methyltransferase activity (H3-K36 specific)|IDA; GO:0097676|P:histone H3-K36 dimethylation|IDA',NULL,NULL,NULL,NULL,NULL),(140396,'Experimental MF/BP Leaf Term GOA',NULL,17049,NULL,'GO:0044736|F:acid-sensing ion channel activity|IDA; GO:0050915|P:sensory perception of sour taste|IMP',NULL,NULL,NULL,NULL,NULL),(140397,'Experimental MF/BP Leaf Term GOA',NULL,17050,NULL,'GO:0050915|P:sensory perception of sour taste|IMP',NULL,NULL,NULL,NULL,NULL),(140398,'Experimental MF/BP Leaf Term GOA',NULL,17051,NULL,'GO:0061750|F:acid sphingomyelin phosphodiesterase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0006685|P:sphingomyelin catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140399,'Experimental MF/BP Leaf Term GOA',NULL,17053,NULL,'GO:0070181|F:small ribosomal subunit rRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(140400,'Experimental MF/BP Leaf Term GOA',NULL,17055,NULL,'GO:0004066|F:asparagine synthase (glutamine-hydrolyzing) activity|IDA',NULL,NULL,NULL,NULL,NULL),(140401,'Experimental MF/BP Leaf Term GOA',NULL,17057,NULL,'GO:0004108|F:citrate (Si)-synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140402,'Experimental MF/BP Leaf Term GOA',NULL,17075,NULL,'GO:0004055|F:argininosuccinate synthase activity|IMP; GO:0000053|P:argininosuccinate metabolic process|IMP; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IMP; GO:0000050|P:urea cycle|IMP',NULL,NULL,NULL,NULL,NULL),(140403,'Experimental MF/BP Leaf Term GOA',NULL,17081,NULL,'GO:1901097|P:negative regulation of autophagosome maturation|IMP; GO:1904766|P:negative regulation of macroautophagy by TORC1 signaling|IMP; GO:1904263|P:positive regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(140404,'Experimental MF/BP Leaf Term GOA',NULL,17082,NULL,'GO:0042806|F:fucose binding|IDA; GO:0005537|F:mannose binding|IDA',NULL,NULL,NULL,NULL,NULL),(140405,'Experimental MF/BP Leaf Term GOA',NULL,17087,NULL,'GO:0005537|F:mannose binding|IDA; GO:0002470|P:plasmacytoid dendritic cell antigen processing and presentation|IDA',NULL,NULL,NULL,NULL,NULL),(140406,'Experimental MF/BP Leaf Term GOA',NULL,17089,NULL,'GO:0001618|F:virus receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140407,'Experimental MF/BP Leaf Term GOA',NULL,17094,NULL,'GO:0043533|F:inositol 1,3,4,5 tetrakisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(140408,'Experimental MF/BP Leaf Term GOA',NULL,17101,NULL,'GO:0001540|F:amyloid-beta binding|IDA; GO:0051087|F:chaperone binding|IPI; GO:0099520|F:ion antiporter activity involved in regulation of presynaptic membrane potential|EXP; GO:0006883|P:cellular sodium ion homeostasis|IDA; GO:1990535|P:neuron projection maintenance|IGI; GO:1990573|P:potassium ion import across plasma membrane|IDA; GO:0036376|P:sodium ion export across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140409,'Experimental MF/BP Leaf Term GOA',NULL,17103,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0006883|P:cellular sodium ion homeostasis|IDA; GO:1903288|P:positive regulation of potassium ion import across plasma membrane|IDA; GO:1903278|P:positive regulation of sodium ion export across plasma membrane|IDA; GO:1990573|P:potassium ion import across plasma membrane|IDA; GO:0050821|P:protein stabilization|IDA; GO:0036376|P:sodium ion export across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140410,'Experimental MF/BP Leaf Term GOA',NULL,17105,NULL,'GO:0005524|F:ATP binding|IDA; GO:1905059|F:calcium-transporting ATPase activity involved in regulation of postsynaptic cytosolic calcium ion concentration|IDA; GO:1905056|F:calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration|EXP; GO:0005516|F:calmodulin binding|IDA; GO:0030165|F:PDZ domain binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(140411,'Experimental MF/BP Leaf Term GOA',NULL,17107,NULL,'GO:0061860|F:DNA clamp unloader activity|IMP; GO:0090618|P:DNA clamp unloading|IMP',NULL,NULL,NULL,NULL,NULL),(140412,'Experimental MF/BP Leaf Term GOA',NULL,17111,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140413,'Experimental MF/BP Leaf Term GOA',NULL,17114,NULL,'GO:0070577|F:lysine-acetylated histone binding|IDA',NULL,NULL,NULL,NULL,NULL),(140414,'Experimental MF/BP Leaf Term GOA',NULL,17120,NULL,'GO:0031624|F:ubiquitin conjugating enzyme binding|IPI; GO:0071425|P:hematopoietic stem cell proliferation|IDA; GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140415,'Experimental MF/BP Leaf Term GOA',NULL,17125,NULL,'GO:0045130|F:keratan sulfotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140416,'Experimental MF/BP Leaf Term GOA',NULL,17126,NULL,'GO:0001517|F:N-acetylglucosamine 6-O-sulfotransferase activity|IDA; GO:0018146|P:keratan sulfate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140417,'Experimental MF/BP Leaf Term GOA',NULL,17127,NULL,'GO:0047756|F:chondroitin 4-sulfotransferase activity|IDA; GO:0001537|F:N-acetylgalactosamine 4-O-sulfotransferase activity|IDA; GO:0030206|P:chondroitin sulfate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140418,'Experimental MF/BP Leaf Term GOA',NULL,17130,NULL,'GO:0000086|P:G2/M transition of mitotic cell cycle|IMP',NULL,NULL,NULL,NULL,NULL),(140419,'Experimental MF/BP Leaf Term GOA',NULL,17131,NULL,'GO:0034314|P:Arp2/3 complex-mediated actin nucleation|IDA',NULL,NULL,NULL,NULL,NULL),(140420,'Experimental MF/BP Leaf Term GOA',NULL,17133,NULL,'GO:0034314|P:Arp2/3 complex-mediated actin nucleation|IDA; GO:0010592|P:positive regulation of lamellipodium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140421,'Experimental MF/BP Leaf Term GOA',NULL,17135,NULL,'GO:1990763|F:arrestin family protein binding|IPI; GO:0005096|F:GTPase activator activity|IMP; GO:0005159|F:insulin-like growth factor receptor binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0035025|P:positive regulation of Rho protein signal transduction|IMP; GO:0043149|P:stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140422,'Experimental MF/BP Leaf Term GOA',NULL,17137,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0002032|P:desensitization of G protein-coupled receptor signaling pathway by arrestin|IMP',NULL,NULL,NULL,NULL,NULL),(140423,'Experimental MF/BP Leaf Term GOA',NULL,17138,NULL,'GO:0003943|F:N-acetylgalactosamine-4-sulfatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140424,'Experimental MF/BP Leaf Term GOA',NULL,17143,NULL,'GO:0004065|F:arylsulfatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140425,'Experimental MF/BP Leaf Term GOA',NULL,17146,NULL,'GO:0002230|P:positive regulation of defense response to virus by host|IDA',NULL,NULL,NULL,NULL,NULL),(140426,'Experimental MF/BP Leaf Term GOA',NULL,17149,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140427,'Experimental MF/BP Leaf Term GOA',NULL,17155,NULL,'GO:0070888|F:E-box binding|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0060712|P:spongiotrophoblast layer development|IEP',NULL,NULL,NULL,NULL,NULL),(140428,'Experimental MF/BP Leaf Term GOA',NULL,17161,NULL,'GO:0006335|P:DNA replication-dependent nucleosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140429,'Experimental MF/BP Leaf Term GOA',NULL,17163,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140430,'Experimental MF/BP Leaf Term GOA',NULL,17166,NULL,'GO:0017096|F:acetylserotonin O-methyltransferase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0030187|P:melatonin biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140431,'Experimental MF/BP Leaf Term GOA',NULL,17167,NULL,'GO:0071816|P:tail-anchored membrane protein insertion into ER membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140432,'Experimental MF/BP Leaf Term GOA',NULL,17168,NULL,'GO:0051537|F:2 iron, 2 sulfur cluster binding|IDA; GO:0106034|P:protein maturation by [2Fe-2S] cluster transfer|IDA',NULL,NULL,NULL,NULL,NULL),(140433,'Experimental MF/BP Leaf Term GOA',NULL,17171,NULL,'GO:0003948|F:N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140434,'Experimental MF/BP Leaf Term GOA',NULL,17173,NULL,'GO:0051059|F:NF-kappaB binding|IPI; GO:0002039|F:p53 binding|IPI',NULL,NULL,NULL,NULL,NULL),(140435,'Experimental MF/BP Leaf Term GOA',NULL,17174,NULL,'GO:0097202|P:activation of cysteine-type endopeptidase activity|IDA; GO:0032237|P:activation of store-operated calcium channel activity|IDA; GO:0071277|P:cellular response to calcium ion|IDA',NULL,NULL,NULL,NULL,NULL),(140436,'Experimental MF/BP Leaf Term GOA',NULL,17175,NULL,'GO:0070410|F:co-SMAD binding|IPI; GO:0050693|F:LBD domain binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(140437,'Experimental MF/BP Leaf Term GOA',NULL,17176,NULL,'GO:0035035|F:histone acetyltransferase binding|IDA; GO:0050693|F:LBD domain binding|IPI; GO:0061428|P:negative regulation of transcription from RNA polymerase II promoter in response to hypoxia|IDA; GO:0035360|P:positive regulation of peroxisome proliferator activated receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140438,'Experimental MF/BP Leaf Term GOA',NULL,17196,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140439,'Experimental MF/BP Leaf Term GOA',NULL,17202,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0097371|F:MDM2/MDM4 family protein binding|IPI; GO:0051059|F:NF-kappaB binding|IPI; GO:0030262|P:apoptotic nuclear changes|IMP; GO:0007095|P:mitotic G2 DNA damage checkpoint|IMP; GO:0044387|P:negative regulation of protein kinase activity by regulation of protein phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(140440,'Experimental MF/BP Leaf Term GOA',NULL,17221,NULL,'GO:0002162|F:dystroglycan binding|IPI; GO:0043515|F:kinetochore binding|IMP; GO:0051010|F:microtubule plus-end binding|IDA; GO:0010458|P:exit from mitosis|IMP; GO:0051497|P:negative regulation of stress fiber assembly|IMP; GO:1903690|P:negative regulation of wound healing, spreading of epidermal cells|IMP; GO:1904261|P:positive regulation of basement membrane assembly involved in embryonic body morphogenesis|IMP; GO:0090091|P:positive regulation of extracellular matrix disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(140441,'Experimental MF/BP Leaf Term GOA',NULL,17224,NULL,'GO:0008083|F:growth factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140442,'Experimental MF/BP Leaf Term GOA',NULL,17225,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140443,'Experimental MF/BP Leaf Term GOA',NULL,17228,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0061952|P:midbody abscission|IMP; GO:0044878|P:mitotic cytokinesis checkpoint|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1901673|P:regulation of mitotic spindle assembly|IMP; GO:0090611|P:ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140444,'Experimental MF/BP Leaf Term GOA',NULL,17229,NULL,'GO:0021919|P:BMP signaling pathway involved in spinal cord dorsal/ventral patterning|IMP',NULL,NULL,NULL,NULL,NULL),(140445,'Experimental MF/BP Leaf Term GOA',NULL,17230,NULL,'GO:0047238|F:glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|IDA; GO:0030206|P:chondroitin sulfate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140446,'Experimental MF/BP Leaf Term GOA',NULL,17232,NULL,'GO:0001517|F:N-acetylglucosamine 6-O-sulfotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140447,'Experimental MF/BP Leaf Term GOA',NULL,17233,NULL,'GO:0008459|F:chondroitin 6-sulfotransferase activity|IDA; GO:0030206|P:chondroitin sulfate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140448,'Experimental MF/BP Leaf Term GOA',NULL,17234,NULL,'GO:0001517|F:N-acetylglucosamine 6-O-sulfotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140449,'Experimental MF/BP Leaf Term GOA',NULL,17236,NULL,'GO:0001537|F:N-acetylgalactosamine 4-O-sulfotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140450,'Experimental MF/BP Leaf Term GOA',NULL,17237,NULL,'GO:0008327|F:methyl-CpG binding|IDA',NULL,NULL,NULL,NULL,NULL),(140451,'Experimental MF/BP Leaf Term GOA',NULL,17241,NULL,'GO:0034314|P:Arp2/3 complex-mediated actin nucleation|IDA; GO:1905168|P:positive regulation of double-strand break repair via homologous recombination|IDA',NULL,NULL,NULL,NULL,NULL),(140452,'Experimental MF/BP Leaf Term GOA',NULL,17243,NULL,'GO:0070914|P:UV-damage excision repair|IMP',NULL,NULL,NULL,NULL,NULL),(140453,'Experimental MF/BP Leaf Term GOA',NULL,17253,NULL,'GO:1990763|F:arrestin family protein binding|IPI; GO:1990756|F:protein binding, bridging involved in substrate recognition for ubiquitination|IMP; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(140454,'Experimental MF/BP Leaf Term GOA',NULL,17256,NULL,'GO:0032364|P:oxygen homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(140455,'Experimental MF/BP Leaf Term GOA',NULL,17258,NULL,'GO:0034314|P:Arp2/3 complex-mediated actin nucleation|IDA',NULL,NULL,NULL,NULL,NULL),(140456,'Experimental MF/BP Leaf Term GOA',NULL,17259,NULL,'GO:0034314|P:Arp2/3 complex-mediated actin nucleation|IDA',NULL,NULL,NULL,NULL,NULL),(140457,'Experimental MF/BP Leaf Term GOA',NULL,17260,NULL,'GO:0034314|P:Arp2/3 complex-mediated actin nucleation|IDA',NULL,NULL,NULL,NULL,NULL),(140458,'Experimental MF/BP Leaf Term GOA',NULL,17263,NULL,'GO:0097202|P:activation of cysteine-type endopeptidase activity|IDA; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(140459,'Experimental MF/BP Leaf Term GOA',NULL,17270,NULL,'GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(140460,'Experimental MF/BP Leaf Term GOA',NULL,17273,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0042632|P:cholesterol homeostasis|IDA; GO:0051005|P:negative regulation of lipoprotein lipase activity|IDA; GO:0055091|P:phospholipid homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(140461,'Experimental MF/BP Leaf Term GOA',NULL,17275,NULL,'GO:0004053|F:arginase activity|EXP; GO:0060336|P:negative regulation of interferon-gamma-mediated signaling pathway|IMP; GO:0070965|P:positive regulation of neutrophil mediated killing of fungus|IMP',NULL,NULL,NULL,NULL,NULL),(140462,'Experimental MF/BP Leaf Term GOA',NULL,17276,NULL,'GO:0043014|F:alpha-tubulin binding|IDA',NULL,NULL,NULL,NULL,NULL),(140463,'Experimental MF/BP Leaf Term GOA',NULL,17277,NULL,'GO:0030676|F:Rac guanyl-nucleotide exchange factor activity|IDA; GO:0071225|P:cellular response to muramyl dipeptide|IDA',NULL,NULL,NULL,NULL,NULL),(140464,'Experimental MF/BP Leaf Term GOA',NULL,17278,NULL,'GO:0043014|F:alpha-tubulin binding|IDA; GO:0048487|F:beta-tubulin binding|IDA; GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(140465,'Experimental MF/BP Leaf Term GOA',NULL,17280,NULL,'GO:0001537|F:N-acetylgalactosamine 4-O-sulfotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140466,'Experimental MF/BP Leaf Term GOA',NULL,17281,NULL,'GO:0001537|F:N-acetylgalactosamine 4-O-sulfotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140467,'Experimental MF/BP Leaf Term GOA',NULL,17282,NULL,'GO:0047756|F:chondroitin 4-sulfotransferase activity|IDA; GO:0030206|P:chondroitin sulfate biosynthetic process|IDA; GO:0030208|P:dermatan sulfate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140468,'Experimental MF/BP Leaf Term GOA',NULL,17283,NULL,'GO:0050656|F:3\'-phosphoadenosine 5\'-phosphosulfate binding|IDA; GO:0050659|F:N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140469,'Experimental MF/BP Leaf Term GOA',NULL,17298,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140470,'Experimental MF/BP Leaf Term GOA',NULL,17299,NULL,'GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140471,'Experimental MF/BP Leaf Term GOA',NULL,17300,NULL,'GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140472,'Experimental MF/BP Leaf Term GOA',NULL,17305,NULL,'GO:0097194|P:execution phase of apoptosis|IDA',NULL,NULL,NULL,NULL,NULL),(140473,'Experimental MF/BP Leaf Term GOA',NULL,17306,NULL,'GO:0030791|F:arsenite methyltransferase activity|IDA; GO:0030792|F:methylarsonite methyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140474,'Experimental MF/BP Leaf Term GOA',NULL,17307,NULL,'GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:0043569|P:negative regulation of insulin-like growth factor receptor signaling pathway|IDA; GO:0060392|P:negative regulation of SMAD protein signal transduction|IGI',NULL,NULL,NULL,NULL,NULL),(140475,'Experimental MF/BP Leaf Term GOA',NULL,17316,NULL,'GO:0006307|P:DNA dealkylation involved in DNA repair|IDA',NULL,NULL,NULL,NULL,NULL),(140476,'Experimental MF/BP Leaf Term GOA',NULL,17317,NULL,'GO:0070888|F:E-box binding|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0021892|P:cerebral cortex GABAergic interneuron differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(140477,'Experimental MF/BP Leaf Term GOA',NULL,17320,NULL,'GO:0070700|F:BMP receptor binding|IPI; GO:0005138|F:interleukin-6 receptor binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0032090|F:Pyrin domain binding|IPI; GO:0005523|F:tropomyosin binding|IPI; GO:0071347|P:cellular response to interleukin-1|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IMP; GO:1900016|P:negative regulation of cytokine production involved in inflammatory response|IMP; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:2001181|P:positive regulation of interleukin-10 secretion|IMP; GO:2000778|P:positive regulation of interleukin-6 secretion|IMP; GO:2000484|P:positive regulation of interleukin-8 secretion|IMP; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(140478,'Experimental MF/BP Leaf Term GOA',NULL,17326,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0090630|P:activation of GTPase activity|IMP',NULL,NULL,NULL,NULL,NULL),(140479,'Experimental MF/BP Leaf Term GOA',NULL,17328,NULL,'GO:0030742|F:GTP-dependent protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(140480,'Experimental MF/BP Leaf Term GOA',NULL,17329,NULL,'GO:0008635|P:activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c|IDA',NULL,NULL,NULL,NULL,NULL),(140481,'Experimental MF/BP Leaf Term GOA',NULL,17330,NULL,'GO:0031210|F:phosphatidylcholine binding|IDA; GO:0060228|F:phosphatidylcholine-sterol O-acyltransferase activator activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0033344|P:cholesterol efflux|IDA; GO:0042632|P:cholesterol homeostasis|IDA; GO:0002227|P:innate immune response in mucosa|IDA; GO:0034445|P:negative regulation of plasma lipoprotein oxidation|IDA; GO:0033700|P:phospholipid efflux|IDA; GO:0010873|P:positive regulation of cholesterol esterification|IDA; GO:0051006|P:positive regulation of lipoprotein lipase activity|IDA; GO:0010898|P:positive regulation of triglyceride catabolic process|IDA; GO:0019430|P:removal of superoxide radicals|IDA; GO:0043691|P:reverse cholesterol transport|IDA; GO:0034372|P:very-low-density lipoprotein particle remodeling|IDA',NULL,NULL,NULL,NULL,NULL),(140482,'Experimental MF/BP Leaf Term GOA',NULL,17331,NULL,'GO:0071456|P:cellular response to hypoxia|IEP; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IDA',NULL,NULL,NULL,NULL,NULL),(140483,'Experimental MF/BP Leaf Term GOA',NULL,17333,NULL,'GO:0006388|P:tRNA splicing, via endonucleolytic cleavage and ligation|IDA',NULL,NULL,NULL,NULL,NULL),(140484,'Experimental MF/BP Leaf Term GOA',NULL,17334,NULL,'GO:0031755|F:Edg-2 lysophosphatidic acid receptor binding|IDA; GO:0060048|P:cardiac muscle contraction|IMP',NULL,NULL,NULL,NULL,NULL),(140485,'Experimental MF/BP Leaf Term GOA',NULL,17336,NULL,'GO:0031996|F:thioesterase binding|IPI; GO:0097178|P:ruffle assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140486,'Experimental MF/BP Leaf Term GOA',NULL,17337,NULL,'GO:0005525|F:GTP binding|IDA; GO:0031584|P:activation of phospholipase D activity|IDA; GO:0060996|P:dendritic spine development|IDA',NULL,NULL,NULL,NULL,NULL),(140487,'Experimental MF/BP Leaf Term GOA',NULL,17339,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IDA; GO:0032933|P:SREBP signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140488,'Experimental MF/BP Leaf Term GOA',NULL,17342,NULL,'GO:0051879|F:Hsp90 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(140489,'Experimental MF/BP Leaf Term GOA',NULL,17344,NULL,'GO:0001517|F:N-acetylglucosamine 6-O-sulfotransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140490,'Experimental MF/BP Leaf Term GOA',NULL,17345,NULL,'GO:0008459|F:chondroitin 6-sulfotransferase activity|IDA; GO:0001517|F:N-acetylglucosamine 6-O-sulfotransferase activity|IDA; GO:0030206|P:chondroitin sulfate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140491,'Experimental MF/BP Leaf Term GOA',NULL,17346,NULL,'GO:0047756|F:chondroitin 4-sulfotransferase activity|IDA; GO:0001537|F:N-acetylgalactosamine 4-O-sulfotransferase activity|IDA; GO:0030206|P:chondroitin sulfate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140492,'Experimental MF/BP Leaf Term GOA',NULL,17355,NULL,'GO:0034063|P:stress granule assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140493,'Experimental MF/BP Leaf Term GOA',NULL,17358,NULL,'GO:0035198|F:miRNA binding|IDA; GO:0051661|P:maintenance of centrosome location|IMP; GO:0035196|P:production of miRNAs involved in gene silencing by miRNA|IMP',NULL,NULL,NULL,NULL,NULL),(140494,'Experimental MF/BP Leaf Term GOA',NULL,17363,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA',NULL,NULL,NULL,NULL,NULL),(140495,'Experimental MF/BP Leaf Term GOA',NULL,17371,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0007420|P:brain development|IMP',NULL,NULL,NULL,NULL,NULL),(140496,'Experimental MF/BP Leaf Term GOA',NULL,17373,NULL,'GO:0070301|P:cellular response to hydrogen peroxide|IDA',NULL,NULL,NULL,NULL,NULL),(140497,'Experimental MF/BP Leaf Term GOA',NULL,17378,NULL,'GO:0017162|F:aryl hydrocarbon receptor binding|IPI; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IDA',NULL,NULL,NULL,NULL,NULL),(140498,'Experimental MF/BP Leaf Term GOA',NULL,17379,NULL,'GO:0004142|F:diacylglycerol cholinephosphotransferase activity|IDA; GO:0006663|P:platelet activating factor biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140499,'Experimental MF/BP Leaf Term GOA',NULL,17381,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0035035|F:histone acetyltransferase binding|IPI; GO:0042826|F:histone deacetylase binding|IDA; GO:0036033|F:mediator complex binding|IDA',NULL,NULL,NULL,NULL,NULL),(140500,'Experimental MF/BP Leaf Term GOA',NULL,17385,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0034260|P:negative regulation of GTPase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140501,'Experimental MF/BP Leaf Term GOA',NULL,17386,NULL,'GO:0003920|F:GMP reductase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140502,'Experimental MF/BP Leaf Term GOA',NULL,17388,NULL,'GO:0019003|F:GDP binding|IDA',NULL,NULL,NULL,NULL,NULL),(140503,'Experimental MF/BP Leaf Term GOA',NULL,17389,NULL,'GO:0060789|P:hair follicle placode formation|IDA; GO:0070527|P:platelet aggregation|IDA',NULL,NULL,NULL,NULL,NULL),(140504,'Experimental MF/BP Leaf Term GOA',NULL,17390,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(140505,'Experimental MF/BP Leaf Term GOA',NULL,17391,NULL,'GO:0050908|P:detection of light stimulus involved in visual perception|IMP',NULL,NULL,NULL,NULL,NULL),(140506,'Experimental MF/BP Leaf Term GOA',NULL,17392,NULL,'GO:0032211|P:negative regulation of telomere maintenance via telomerase|IMP; GO:0090073|P:positive regulation of protein homodimerization activity|IMP',NULL,NULL,NULL,NULL,NULL),(140507,'Experimental MF/BP Leaf Term GOA',NULL,17395,NULL,'GO:0016287|F:glycerone-phosphate O-acyltransferase activity|IDA; GO:0016290|F:palmitoyl-CoA hydrolase activity|IDA; GO:0008611|P:ether lipid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140508,'Experimental MF/BP Leaf Term GOA',NULL,17396,NULL,'GO:0004342|F:glucosamine-6-phosphate deaminase activity|IMP; GO:0006043|P:glucosamine catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(140509,'Experimental MF/BP Leaf Term GOA',NULL,17398,NULL,'GO:0003976|F:UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|IDA; GO:0016256|P:N-glycan processing to lysosome|IMP',NULL,NULL,NULL,NULL,NULL),(140510,'Experimental MF/BP Leaf Term GOA',NULL,17410,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140511,'Experimental MF/BP Leaf Term GOA',NULL,17416,NULL,'GO:0019962|F:type I interferon binding|IPI; GO:0004905|F:type I interferon receptor activity|IDA; GO:0060337|P:type I interferon signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140512,'Experimental MF/BP Leaf Term GOA',NULL,17418,NULL,'GO:0030332|F:cyclin binding|IDA; GO:0004861|F:cyclin-dependent protein serine/threonine kinase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140513,'Experimental MF/BP Leaf Term GOA',NULL,17424,NULL,'GO:0070699|F:type II activin receptor binding|IPI; GO:0035987|P:endodermal cell differentiation|IDA; GO:0000082|P:G1/S transition of mitotic cell cycle|IDA; GO:0001942|P:hair follicle development|IGI; GO:0042541|P:hemoglobin biosynthetic process|IDA; GO:0008584|P:male gonad development|IGI; GO:0001541|P:ovarian follicle development|IGI; GO:2001241|P:positive regulation of extrinsic apoptotic signaling pathway in absence of ligand|IDA; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IDA; GO:0042701|P:progesterone secretion|IGI; GO:0021773|P:striatal medium spiny neuron differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(140514,'Experimental MF/BP Leaf Term GOA',NULL,17429,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0046882|P:negative regulation of follicle-stimulating hormone secretion|IPI; GO:0048178|P:negative regulation of hepatocyte growth factor biosynthetic process|IDA; GO:0046881|P:positive regulation of follicle-stimulating hormone secretion|IPI',NULL,NULL,NULL,NULL,NULL),(140515,'Experimental MF/BP Leaf Term GOA',NULL,17434,NULL,'GO:0043014|F:alpha-tubulin binding|IMP; GO:0000070|P:mitotic sister chromatid segregation|IMP; GO:0070914|P:UV-damage excision repair|IMP',NULL,NULL,NULL,NULL,NULL),(140516,'Experimental MF/BP Leaf Term GOA',NULL,17445,NULL,'GO:0006610|P:ribosomal protein import into nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(140517,'Experimental MF/BP Leaf Term GOA',NULL,17447,NULL,'GO:0008465|F:glycerate dehydrogenase activity|IDA; GO:0030267|F:glyoxylate reductase (NADP) activity|IDA; GO:0016618|F:hydroxypyruvate reductase activity|IDA; GO:0070402|F:NADPH binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140518,'Experimental MF/BP Leaf Term GOA',NULL,17448,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0042803|F:protein homodimerization activity|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140519,'Experimental MF/BP Leaf Term GOA',NULL,17449,NULL,'GO:0004971|F:AMPA glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140520,'Experimental MF/BP Leaf Term GOA',NULL,17451,NULL,'GO:1904861|P:excitatory synapse assembly|IMP; GO:1900454|P:positive regulation of long-term synaptic depression|IMP',NULL,NULL,NULL,NULL,NULL),(140521,'Experimental MF/BP Leaf Term GOA',NULL,17452,NULL,'GO:0051482|P:positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140522,'Experimental MF/BP Leaf Term GOA',NULL,17453,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0045082|P:positive regulation of interleukin-10 biosynthetic process|IDA; GO:0045368|P:positive regulation of interleukin-13 biosynthetic process|IDA; GO:0045086|P:positive regulation of interleukin-2 biosynthetic process|IDA; GO:0045404|P:positive regulation of interleukin-4 biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140523,'Experimental MF/BP Leaf Term GOA',NULL,17454,NULL,'GO:0047613|F:aconitate decarboxylase activity|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0072573|P:tolerance induction to lipopolysaccharide|IDA',NULL,NULL,NULL,NULL,NULL),(140524,'Experimental MF/BP Leaf Term GOA',NULL,17457,NULL,'GO:0005158|F:insulin receptor binding|IPI; GO:0005159|F:insulin-like growth factor receptor binding|IPI; GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0005070|F:SH3/SH2 adaptor activity|IDA; GO:0032869|P:cellular response to insulin stimulus|IMP; GO:0048009|P:insulin-like growth factor receptor signaling pathway|IPI; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IDA; GO:0046326|P:positive regulation of glucose import|IDA; GO:0045725|P:positive regulation of glycogen biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(140525,'Experimental MF/BP Leaf Term GOA',NULL,17458,NULL,'GO:0032869|P:cellular response to insulin stimulus|IMP; GO:0010748|P:negative regulation of plasma membrane long-chain fatty acid transport|IMP; GO:0046326|P:positive regulation of glucose import|IMP; GO:0045725|P:positive regulation of glycogen biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(140526,'Experimental MF/BP Leaf Term GOA',NULL,17464,NULL,'GO:0048701|P:embryonic cranial skeleton morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(140527,'Experimental MF/BP Leaf Term GOA',NULL,17468,NULL,'GO:0001103|F:RNA polymerase II repressing transcription factor binding|IDA; GO:0042307|P:positive regulation of protein import into nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(140528,'Experimental MF/BP Leaf Term GOA',NULL,17469,NULL,'GO:2000353|P:positive regulation of endothelial cell apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(140529,'Experimental MF/BP Leaf Term GOA',NULL,17472,NULL,'GO:0005096|F:GTPase activator activity|IMP; GO:0042803|F:protein homodimerization activity|IDA; GO:0090630|P:activation of GTPase activity|IDA; GO:0070830|P:bicellular tight junction assembly|IMP; GO:0071277|P:cellular response to calcium ion|IDA; GO:0070301|P:cellular response to hydrogen peroxide|IDA',NULL,NULL,NULL,NULL,NULL),(140530,'Experimental MF/BP Leaf Term GOA',NULL,17473,NULL,'GO:0004047|F:aminomethyltransferase activity|IMP; GO:0019464|P:glycine decarboxylation via glycine cleavage system|IMP',NULL,NULL,NULL,NULL,NULL),(140531,'Experimental MF/BP Leaf Term GOA',NULL,17476,NULL,'GO:0038177|F:death receptor agonist activity|IMP',NULL,NULL,NULL,NULL,NULL),(140532,'Experimental MF/BP Leaf Term GOA',NULL,17477,NULL,'GO:1990174|F:phosphodiesterase decapping endonuclease activity|IMP',NULL,NULL,NULL,NULL,NULL),(140533,'Experimental MF/BP Leaf Term GOA',NULL,17478,NULL,'GO:0004571|F:mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|IMP; GO:0051787|F:misfolded protein binding|IDA; GO:1904382|P:mannose trimming involved in glycoprotein ERAD pathway|IMP; GO:1904154|P:positive regulation of retrograde protein transport, ER to cytosol|IMP; GO:0097466|P:ubiquitin-dependent glycoprotein ERAD pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140534,'Experimental MF/BP Leaf Term GOA',NULL,17479,NULL,'GO:0031707|F:endothelin A receptor binding|IDA; GO:0031708|F:endothelin B receptor binding|IDA; GO:0051771|P:negative regulation of nitric-oxide synthase biosynthetic process|IDA; GO:0030185|P:nitric oxide transport|IDA; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IDA; GO:0061051|P:positive regulation of cell growth involved in cardiac muscle cell development|IDA; GO:0060585|P:positive regulation of prostaglandin-endoperoxide synthase activity|IMP; GO:0060298|P:positive regulation of sarcomere organization|IMP; GO:0042313|P:protein kinase C deactivation|IDA; GO:0003100|P:regulation of systemic arterial blood pressure by endothelin|IDA; GO:0014826|P:vein smooth muscle contraction|IDA',NULL,NULL,NULL,NULL,NULL),(140535,'Experimental MF/BP Leaf Term GOA',NULL,17481,NULL,'GO:0004962|F:endothelin receptor activity|IDA; GO:0048246|P:macrophage chemotaxis|IMP; GO:0014826|P:vein smooth muscle contraction|IMP',NULL,NULL,NULL,NULL,NULL),(140536,'Experimental MF/BP Leaf Term GOA',NULL,17482,NULL,'GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(140537,'Experimental MF/BP Leaf Term GOA',NULL,17484,NULL,'GO:0004383|F:guanylate cyclase activity|IDA; GO:0006182|P:cGMP biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140538,'Experimental MF/BP Leaf Term GOA',NULL,17486,NULL,'GO:0000266|P:mitochondrial fission|IDA; GO:0006626|P:protein targeting to mitochondrion|IMP',NULL,NULL,NULL,NULL,NULL),(140539,'Experimental MF/BP Leaf Term GOA',NULL,17489,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:0002023|P:reduction of food intake in response to dietary excess|IDA; GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(140540,'Experimental MF/BP Leaf Term GOA',NULL,17491,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0004686|F:elongation factor-2 kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140541,'Experimental MF/BP Leaf Term GOA',NULL,17503,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IDA; GO:0090190|P:positive regulation of branching involved in ureteric bud morphogenesis|IDA',NULL,NULL,NULL,NULL,NULL),(140542,'Experimental MF/BP Leaf Term GOA',NULL,17508,NULL,'GO:0080048|F:GDP-D-glucose phosphorylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140543,'Experimental MF/BP Leaf Term GOA',NULL,17509,NULL,'GO:0051561|P:positive regulation of mitochondrial calcium ion concentration|IMP',NULL,NULL,NULL,NULL,NULL),(140544,'Experimental MF/BP Leaf Term GOA',NULL,17511,NULL,'GO:0043014|F:alpha-tubulin binding|IDA',NULL,NULL,NULL,NULL,NULL),(140545,'Experimental MF/BP Leaf Term GOA',NULL,17516,NULL,'GO:0046875|F:ephrin receptor binding|IPI; GO:0048013|P:ephrin receptor signaling pathway|IDA; GO:1902004|P:positive regulation of amyloid-beta formation|IDA; GO:1902961|P:positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process|IGI; GO:0050821|P:protein stabilization|IGI; GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(140546,'Experimental MF/BP Leaf Term GOA',NULL,17518,NULL,'GO:0046875|F:ephrin receptor binding|IPI; GO:0048013|P:ephrin receptor signaling pathway|IGI; GO:1902961|P:positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process|IGI',NULL,NULL,NULL,NULL,NULL),(140547,'Experimental MF/BP Leaf Term GOA',NULL,17519,NULL,'GO:0046875|F:ephrin receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(140548,'Experimental MF/BP Leaf Term GOA',NULL,17520,NULL,'GO:0051087|F:chaperone binding|IPI; GO:1904378|P:maintenance of unfolded protein involved in ERAD pathway|IMP; GO:0071816|P:tail-anchored membrane protein insertion into ER membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140549,'Experimental MF/BP Leaf Term GOA',NULL,17522,NULL,'GO:0001085|F:RNA polymerase II transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(140550,'Experimental MF/BP Leaf Term GOA',NULL,17525,NULL,'GO:0035226|F:glutamate-cysteine ligase catalytic subunit binding|IPI; GO:0006750|P:glutathione biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140551,'Experimental MF/BP Leaf Term GOA',NULL,17526,NULL,'GO:0004602|F:glutathione peroxidase activity|IDA; GO:0004364|F:glutathione transferase activity|IDA; GO:0043651|P:linoleic acid metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140552,'Experimental MF/BP Leaf Term GOA',NULL,17527,NULL,'GO:0044325|F:ion channel binding|IDA; GO:1902282|F:voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization|IMP; GO:0098915|P:membrane repolarization during ventricular cardiac muscle cell action potential|IMP; GO:1902260|P:negative regulation of delayed rectifier potassium channel activity|IDA; GO:0097623|P:potassium ion export across plasma membrane|IDA; GO:1990573|P:potassium ion import across plasma membrane|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0086005|P:ventricular cardiac muscle cell action potential|IMP',NULL,NULL,NULL,NULL,NULL),(140553,'Experimental MF/BP Leaf Term GOA',NULL,17528,NULL,'GO:0034237|F:protein kinase A regulatory subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(140554,'Experimental MF/BP Leaf Term GOA',NULL,17529,NULL,'GO:1902260|P:negative regulation of delayed rectifier potassium channel activity|IDA; GO:1903765|P:negative regulation of potassium ion export across plasma membrane|IDA; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(140555,'Experimental MF/BP Leaf Term GOA',NULL,17530,NULL,'GO:0005251|F:delayed rectifier potassium channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(140556,'Experimental MF/BP Leaf Term GOA',NULL,17536,NULL,'GO:1990573|P:potassium ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140557,'Experimental MF/BP Leaf Term GOA',NULL,17537,NULL,'GO:0015272|F:ATP-activated inward rectifier potassium channel activity|IDA; GO:1902282|F:voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization|IMP; GO:0098915|P:membrane repolarization during ventricular cardiac muscle cell action potential|IMP; GO:1990573|P:potassium ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140558,'Experimental MF/BP Leaf Term GOA',NULL,17541,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(140559,'Experimental MF/BP Leaf Term GOA',NULL,17547,NULL,'GO:0004373|F:glycogen (starch) synthase activity|IDA; GO:0005978|P:glycogen biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140560,'Experimental MF/BP Leaf Term GOA',NULL,17548,NULL,'GO:0001206|F:distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(140561,'Experimental MF/BP Leaf Term GOA',NULL,17550,NULL,'GO:0070914|P:UV-damage excision repair|IMP',NULL,NULL,NULL,NULL,NULL),(140562,'Experimental MF/BP Leaf Term GOA',NULL,17555,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002227|P:innate immune response in mucosa|IDA',NULL,NULL,NULL,NULL,NULL),(140563,'Experimental MF/BP Leaf Term GOA',NULL,17556,NULL,'GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(140564,'Experimental MF/BP Leaf Term GOA',NULL,17557,NULL,'GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(140565,'Experimental MF/BP Leaf Term GOA',NULL,17560,NULL,'GO:0018812|F:3-hydroxyacyl-CoA dehydratase activity|IDA; GO:0080023|F:3R-hydroxyacyl-CoA dehydratase activity|EXP; GO:0046848|F:hydroxyapatite binding|IDA; GO:0071529|P:cementum mineralization|IDA; GO:0042761|P:very long-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140566,'Experimental MF/BP Leaf Term GOA',NULL,17562,NULL,'GO:0070936|P:protein K48-linked ubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140567,'Experimental MF/BP Leaf Term GOA',NULL,17566,NULL,'GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP; GO:0042307|P:positive regulation of protein import into nucleus|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(140568,'Experimental MF/BP Leaf Term GOA',NULL,17567,NULL,'GO:0030552|F:cAMP binding|IDA; GO:0071320|P:cellular response to cAMP|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(140569,'Experimental MF/BP Leaf Term GOA',NULL,17568,NULL,'GO:0071320|P:cellular response to cAMP|IDA; GO:0071321|P:cellular response to cGMP|IDA; GO:1990573|P:potassium ion import across plasma membrane|IDA; GO:0098719|P:sodium ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140570,'Experimental MF/BP Leaf Term GOA',NULL,17570,NULL,'GO:0042826|F:histone deacetylase binding|IDA',NULL,NULL,NULL,NULL,NULL),(140571,'Experimental MF/BP Leaf Term GOA',NULL,17572,NULL,'GO:0030544|F:Hsp70 protein binding|IPI; GO:0051879|F:Hsp90 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(140572,'Experimental MF/BP Leaf Term GOA',NULL,17575,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140573,'Experimental MF/BP Leaf Term GOA',NULL,17579,NULL,'GO:0097533|P:cellular stress response to acid chemical|IMP; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140574,'Experimental MF/BP Leaf Term GOA',NULL,17580,NULL,'GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(140575,'Experimental MF/BP Leaf Term GOA',NULL,17582,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0005080|F:protein kinase C binding|IPI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(140576,'Experimental MF/BP Leaf Term GOA',NULL,17583,NULL,'GO:2000234|P:positive regulation of rRNA processing|IMP',NULL,NULL,NULL,NULL,NULL),(140577,'Experimental MF/BP Leaf Term GOA',NULL,17585,NULL,'GO:0043141|F:ATP-dependent 5\'-3\' DNA helicase activity|IDA; GO:1903775|P:regulation of DNA double-strand break processing|IMP',NULL,NULL,NULL,NULL,NULL),(140578,'Experimental MF/BP Leaf Term GOA',NULL,17590,NULL,'GO:2000626|P:negative regulation of miRNA catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140579,'Experimental MF/BP Leaf Term GOA',NULL,17591,NULL,'GO:0004348|F:glucosylceramidase activity|IDA; GO:0005124|F:scavenger receptor binding|IPI; GO:0071356|P:cellular response to tumor necrosis factor|IMP; GO:0006680|P:glucosylceramide catabolic process|IMP; GO:1904457|P:positive regulation of neuronal action potential|IMP; GO:0046512|P:sphingosine biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(140580,'Experimental MF/BP Leaf Term GOA',NULL,17593,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IMP',NULL,NULL,NULL,NULL,NULL),(140581,'Experimental MF/BP Leaf Term GOA',NULL,17598,NULL,'GO:0098782|F:mechanosensitived potassium channel activity|IDA; GO:0071260|P:cellular response to mechanical stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(140582,'Experimental MF/BP Leaf Term GOA',NULL,17602,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(140583,'Experimental MF/BP Leaf Term GOA',NULL,17610,NULL,'GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(140584,'Experimental MF/BP Leaf Term GOA',NULL,17611,NULL,'GO:0018812|F:3-hydroxyacyl-CoA dehydratase activity|IDA; GO:0080023|F:3R-hydroxyacyl-CoA dehydratase activity|EXP; GO:0042761|P:very long-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140585,'Experimental MF/BP Leaf Term GOA',NULL,17613,NULL,'GO:0018812|F:3-hydroxyacyl-CoA dehydratase activity|IDA; GO:0042761|P:very long-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140586,'Experimental MF/BP Leaf Term GOA',NULL,17614,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0008201|F:heparin binding|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(140587,'Experimental MF/BP Leaf Term GOA',NULL,17618,NULL,'GO:0005171|F:hepatocyte growth factor receptor binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:0045086|P:positive regulation of interleukin-2 biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(140588,'Experimental MF/BP Leaf Term GOA',NULL,17619,NULL,'GO:0003923|F:GPI-anchor transamidase activity|IMP',NULL,NULL,NULL,NULL,NULL),(140589,'Experimental MF/BP Leaf Term GOA',NULL,17622,NULL,'GO:0004800|F:thyroxine 5\'-deiodinase activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(140590,'Experimental MF/BP Leaf Term GOA',NULL,17625,NULL,'GO:0015277|F:kainate selective glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140591,'Experimental MF/BP Leaf Term GOA',NULL,17629,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(140592,'Experimental MF/BP Leaf Term GOA',NULL,17630,NULL,'GO:0015277|F:kainate selective glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140593,'Experimental MF/BP Leaf Term GOA',NULL,17631,NULL,'GO:0004427|F:inorganic diphosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140594,'Experimental MF/BP Leaf Term GOA',NULL,17632,NULL,'GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0061817|P:endoplasmic reticulum-plasma membrane tethering|IDA',NULL,NULL,NULL,NULL,NULL),(140595,'Experimental MF/BP Leaf Term GOA',NULL,17633,NULL,'GO:0047696|F:beta-adrenergic receptor kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140596,'Experimental MF/BP Leaf Term GOA',NULL,17634,NULL,'GO:0050254|F:rhodopsin kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140597,'Experimental MF/BP Leaf Term GOA',NULL,17637,NULL,'GO:0014036|P:neural crest cell fate specification|IMP',NULL,NULL,NULL,NULL,NULL),(140598,'Experimental MF/BP Leaf Term GOA',NULL,17638,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0034452|F:dynactin binding|IPI; GO:0051059|F:NF-kappaB binding|IPI; GO:0002039|F:p53 binding|IDA; GO:0034236|F:protein kinase A catalytic subunit binding|IPI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0050321|F:tau-protein kinase activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0021766|P:hippocampus development|IMP; GO:0070885|P:negative regulation of calcineurin-NFAT signaling cascade|IMP; GO:1904781|P:positive regulation of protein localization to centrosome|IMP; GO:0071109|P:superior temporal gyrus development|IMP',NULL,NULL,NULL,NULL,NULL),(140599,'Experimental MF/BP Leaf Term GOA',NULL,17639,NULL,'GO:0004364|F:glutathione transferase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140600,'Experimental MF/BP Leaf Term GOA',NULL,17645,NULL,'GO:0022841|F:potassium ion leak channel activity|IDA; GO:0044548|F:S100 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(140601,'Experimental MF/BP Leaf Term GOA',NULL,17647,NULL,'GO:0050862|P:positive regulation of T cell receptor signaling pathway|IDA; GO:0030322|P:stabilization of membrane potential|IDA',NULL,NULL,NULL,NULL,NULL),(140602,'Experimental MF/BP Leaf Term GOA',NULL,17648,NULL,'GO:0030506|F:ankyrin binding|IPI; GO:0005516|F:calmodulin binding|IDA',NULL,NULL,NULL,NULL,NULL),(140603,'Experimental MF/BP Leaf Term GOA',NULL,17650,NULL,'GO:0008892|F:guanine deaminase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140604,'Experimental MF/BP Leaf Term GOA',NULL,17654,NULL,'GO:0007420|P:brain development|IMP; GO:1901837|P:negative regulation of transcription of nucleolar large rRNA by RNA polymerase I|IGI',NULL,NULL,NULL,NULL,NULL),(140605,'Experimental MF/BP Leaf Term GOA',NULL,17658,NULL,'GO:0003844|F:1,4-alpha-glucan branching enzyme activity|IDA; GO:0005978|P:glycogen biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140606,'Experimental MF/BP Leaf Term GOA',NULL,17660,NULL,'GO:0008887|F:glycerate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140607,'Experimental MF/BP Leaf Term GOA',NULL,17666,NULL,'GO:0045174|F:glutathione dehydrogenase (ascorbate) activity|IDA',NULL,NULL,NULL,NULL,NULL),(140608,'Experimental MF/BP Leaf Term GOA',NULL,17668,NULL,'GO:0005251|F:delayed rectifier potassium channel activity|IDA; GO:0071277|P:cellular response to calcium ion|IMP',NULL,NULL,NULL,NULL,NULL),(140609,'Experimental MF/BP Leaf Term GOA',NULL,17676,NULL,'GO:0097623|P:potassium ion export across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140610,'Experimental MF/BP Leaf Term GOA',NULL,17677,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0005251|F:delayed rectifier potassium channel activity|IDA; GO:0044325|F:ion channel binding|IPI; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0034236|F:protein kinase A catalytic subunit binding|IDA; GO:0034237|F:protein kinase A regulatory subunit binding|IDA; GO:0008157|F:protein phosphatase 1 binding|IDA; GO:0097110|F:scaffold protein binding|IPI; GO:0086089|F:voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization|IMP; GO:1902282|F:voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization|IMP; GO:0086014|P:atrial cardiac muscle cell action potential|IMP; GO:0060048|P:cardiac muscle contraction|IMP; GO:0071320|P:cellular response to cAMP|IDA; GO:0098914|P:membrane repolarization during atrial cardiac muscle cell action potential|IMP; GO:0098915|P:membrane repolarization during ventricular cardiac muscle cell action potential|IMP; GO:1902260|P:negative regulation of delayed rectifier potassium channel activity|IDA; GO:0097623|P:potassium ion export across plasma membrane|IDA; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0086005|P:ventricular cardiac muscle cell action potential|IMP',NULL,NULL,NULL,NULL,NULL),(140611,'Experimental MF/BP Leaf Term GOA',NULL,17681,NULL,'GO:0090461|P:glutamate homeostasis|IMP',NULL,NULL,NULL,NULL,NULL),(140612,'Experimental MF/BP Leaf Term GOA',NULL,17684,NULL,'GO:0004550|F:nucleoside diphosphate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140613,'Experimental MF/BP Leaf Term GOA',NULL,17688,NULL,'GO:0051864|F:histone demethylase activity (H3-K36 specific)|IDA; GO:0000086|P:G2/M transition of mitotic cell cycle|IMP; GO:0070544|P:histone H3-K36 demethylation|IDA',NULL,NULL,NULL,NULL,NULL),(140614,'Experimental MF/BP Leaf Term GOA',NULL,17692,NULL,'GO:0010385|F:double-stranded methylated DNA binding|IDA; GO:0031492|F:nucleosomal DNA binding|IDA; GO:0000979|F:RNA polymerase II core promoter sequence-specific DNA binding|IDA; GO:1901837|P:negative regulation of transcription of nucleolar large rRNA by RNA polymerase I|IMP',NULL,NULL,NULL,NULL,NULL),(140615,'Experimental MF/BP Leaf Term GOA',NULL,17695,NULL,'GO:0004356|F:glutamate-ammonia ligase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140616,'Experimental MF/BP Leaf Term GOA',NULL,17701,NULL,'GO:0035299|F:inositol pentakisphosphate 2-kinase activity|IDA; GO:0052746|P:inositol phosphorylation|IDA; GO:1901838|P:positive regulation of transcription of nucleolar large rRNA by RNA polymerase I|IMP',NULL,NULL,NULL,NULL,NULL),(140617,'Experimental MF/BP Leaf Term GOA',NULL,17705,NULL,'GO:0004971|F:AMPA glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140618,'Experimental MF/BP Leaf Term GOA',NULL,17706,NULL,'GO:0015277|F:kainate selective glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140619,'Experimental MF/BP Leaf Term GOA',NULL,17708,NULL,'GO:0015277|F:kainate selective glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140620,'Experimental MF/BP Leaf Term GOA',NULL,17710,NULL,'GO:0007196|P:adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140621,'Experimental MF/BP Leaf Term GOA',NULL,17711,NULL,'GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IGI; GO:1904646|P:cellular response to amyloid-beta|IGI',NULL,NULL,NULL,NULL,NULL),(140622,'Experimental MF/BP Leaf Term GOA',NULL,17712,NULL,'GO:0004427|F:inorganic diphosphatase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140623,'Experimental MF/BP Leaf Term GOA',NULL,17713,NULL,'GO:0010855|F:adenylate cyclase inhibitor activity|IDA; GO:0016595|F:glutamate binding|IDA; GO:0001642|F:group III metabotropic glutamate receptor activity|IDA; GO:0070905|F:serine binding|IDA; GO:0007196|P:adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway|IDA; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(140624,'Experimental MF/BP Leaf Term GOA',NULL,17714,NULL,'GO:0007196|P:adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140625,'Experimental MF/BP Leaf Term GOA',NULL,17718,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0071346|P:cellular response to interferon-gamma|IDA',NULL,NULL,NULL,NULL,NULL),(140626,'Experimental MF/BP Leaf Term GOA',NULL,17720,NULL,'GO:0051434|F:BH3 domain binding|IMP; GO:0050700|F:CARD domain binding|IMP; GO:0043539|F:protein serine/threonine kinase activator activity|IMP; GO:0000045|P:autophagosome assembly|IMP; GO:0061762|P:CAMKK-AMPK signaling cascade|IMP; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0070431|P:nucleotide-binding oligomerization domain containing 2 signaling pathway|IMP; GO:1901098|P:positive regulation of autophagosome maturation|IMP; GO:0060335|P:positive regulation of interferon-gamma-mediated signaling pathway|IMP; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IMP; GO:0031648|P:protein destabilization|IMP; GO:0061739|P:protein lipidation involved in autophagosome assembly|IMP; GO:0050821|P:protein stabilization|IMP; GO:0061635|P:regulation of protein complex stability|IMP',NULL,NULL,NULL,NULL,NULL),(140627,'Experimental MF/BP Leaf Term GOA',NULL,17725,NULL,'GO:1901612|F:cardiolipin binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0070269|P:pyroptosis|IDA',NULL,NULL,NULL,NULL,NULL),(140628,'Experimental MF/BP Leaf Term GOA',NULL,17728,NULL,'GO:0034236|F:protein kinase A catalytic subunit binding|IPI; GO:0032869|P:cellular response to insulin stimulus|IMP; GO:0046325|P:negative regulation of glucose import|IMP; GO:1904227|P:negative regulation of glycogen synthase activity, transferring glucose-1-phosphate|IMP; GO:1902004|P:positive regulation of amyloid-beta formation|IMP',NULL,NULL,NULL,NULL,NULL),(140629,'Experimental MF/BP Leaf Term GOA',NULL,17729,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0097623|P:potassium ion export across plasma membrane|IDA; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(140630,'Experimental MF/BP Leaf Term GOA',NULL,17730,NULL,'GO:0043295|F:glutathione binding|IDA; GO:0004364|F:glutathione transferase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140631,'Experimental MF/BP Leaf Term GOA',NULL,17731,NULL,'GO:0004364|F:glutathione transferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140632,'Experimental MF/BP Leaf Term GOA',NULL,17733,NULL,'GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(140633,'Experimental MF/BP Leaf Term GOA',NULL,17734,NULL,'GO:0005251|F:delayed rectifier potassium channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(140634,'Experimental MF/BP Leaf Term GOA',NULL,17735,NULL,'GO:0005251|F:delayed rectifier potassium channel activity|IDA; GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(140635,'Experimental MF/BP Leaf Term GOA',NULL,17744,NULL,'GO:0030506|F:ankyrin binding|IDA; GO:0097602|F:cullin family protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(140636,'Experimental MF/BP Leaf Term GOA',NULL,17747,NULL,'GO:0000086|P:G2/M transition of mitotic cell cycle|IMP',NULL,NULL,NULL,NULL,NULL),(140637,'Experimental MF/BP Leaf Term GOA',NULL,17750,NULL,'GO:0004373|F:glycogen (starch) synthase activity|IDA; GO:0061547|F:glycogen synthase activity, transferring glucose-1-phosphate|EXP; GO:0005978|P:glycogen biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140638,'Experimental MF/BP Leaf Term GOA',NULL,17752,NULL,'GO:0033300|F:dehydroascorbic acid transmembrane transporter activity|EXP',NULL,NULL,NULL,NULL,NULL),(140639,'Experimental MF/BP Leaf Term GOA',NULL,17756,NULL,'GO:1990539|P:fructose import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140640,'Experimental MF/BP Leaf Term GOA',NULL,17765,NULL,'GO:0031492|F:nucleosomal DNA binding|IDA; GO:0000979|F:RNA polymerase II core promoter sequence-specific DNA binding|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(140641,'Experimental MF/BP Leaf Term GOA',NULL,17766,NULL,'GO:0031492|F:nucleosomal DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(140642,'Experimental MF/BP Leaf Term GOA',NULL,17768,NULL,'GO:0001784|F:phosphotyrosine residue binding|IPI; GO:2000251|P:positive regulation of actin cytoskeleton reorganization|IDA',NULL,NULL,NULL,NULL,NULL),(140643,'Experimental MF/BP Leaf Term GOA',NULL,17769,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0038109|P:Kit signaling pathway|IDA; GO:0008584|P:male gonad development|IEP; GO:0002551|P:mast cell chemotaxis|IDA; GO:0032762|P:mast cell cytokine production|IDA; GO:0043303|P:mast cell degranulation|IMP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(140644,'Experimental MF/BP Leaf Term GOA',NULL,17770,NULL,'GO:0086041|F:voltage-gated potassium channel activity involved in SA node cell action potential depolarization|IMP; GO:0071320|P:cellular response to cAMP|IDA; GO:0071321|P:cellular response to cGMP|IDA; GO:0086046|P:membrane depolarization during SA node cell action potential|IMP; GO:1990573|P:potassium ion import across plasma membrane|IDA; GO:0098909|P:regulation of cardiac muscle cell action potential involved in regulation of contraction|IMP; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0086015|P:SA node cell action potential|IMP; GO:0098719|P:sodium ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(140645,'Experimental MF/BP Leaf Term GOA',NULL,17774,NULL,'GO:0043984|P:histone H4-K16 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(140646,'Experimental MF/BP Leaf Term GOA',NULL,17777,NULL,'GO:0030332|F:cyclin binding|IPI',NULL,NULL,NULL,NULL,NULL),(140647,'Experimental MF/BP Leaf Term GOA',NULL,17780,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP',NULL,NULL,NULL,NULL,NULL),(140648,'Experimental MF/BP Leaf Term GOA',NULL,17781,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:0051059|F:NF-kappaB binding|IPI; GO:0042307|P:positive regulation of protein import into nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(140649,'Experimental MF/BP Leaf Term GOA',NULL,17782,NULL,'GO:0048487|F:beta-tubulin binding|IDA; GO:0034452|F:dynactin binding|IPI; GO:0045505|F:dynein intermediate chain binding|IDA; GO:0044325|F:ion channel binding|IDA; GO:0002039|F:p53 binding|IPI; GO:0005522|F:profilin binding|IPI; GO:1905337|P:positive regulation of aggrephagy|IMP; GO:0031587|P:positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|IDA; GO:1904504|P:positive regulation of lipophagy|IMP; GO:0031648|P:protein destabilization|IMP; GO:0042297|P:vocal learning|IMP',NULL,NULL,NULL,NULL,NULL),(140650,'Experimental MF/BP Leaf Term GOA',NULL,17783,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(140651,'Experimental MF/BP Leaf Term GOA',NULL,17785,NULL,'GO:0003870|F:5-aminolevulinate synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140652,'Experimental MF/BP Leaf Term GOA',NULL,17786,NULL,'GO:1905437|P:positive regulation of histone H3-K4 trimethylation|IMP',NULL,NULL,NULL,NULL,NULL),(140653,'Experimental MF/BP Leaf Term GOA',NULL,17788,NULL,'GO:0004966|F:galanin receptor activity|IDA; GO:0090663|P:galanin-activated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140654,'Experimental MF/BP Leaf Term GOA',NULL,17789,NULL,'GO:0003180|P:aortic valve morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(140655,'Experimental MF/BP Leaf Term GOA',NULL,17791,NULL,'GO:0050567|F:glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity|IDA; GO:0070681|P:glutaminyl-tRNAGln biosynthesis via transamidation|IDA; GO:0032543|P:mitochondrial translation|IMP',NULL,NULL,NULL,NULL,NULL),(140656,'Experimental MF/BP Leaf Term GOA',NULL,17793,NULL,'GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0001649|P:osteoblast differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(140657,'Experimental MF/BP Leaf Term GOA',NULL,17794,NULL,'GO:0004370|F:glycerol kinase activity|IMP; GO:0046167|P:glycerol-3-phosphate biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(140658,'Experimental MF/BP Leaf Term GOA',NULL,17795,NULL,'GO:0004967|F:glucagon receptor activity|IDA; GO:0071377|P:cellular response to glucagon stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(140659,'Experimental MF/BP Leaf Term GOA',NULL,17797,NULL,'GO:0004653|F:polypeptide N-acetylgalactosaminyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140660,'Experimental MF/BP Leaf Term GOA',NULL,17801,NULL,'GO:0008466|F:glycogenin glucosyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140661,'Experimental MF/BP Leaf Term GOA',NULL,17803,NULL,'GO:0047961|F:glycine N-acyltransferase activity|IDA; GO:0051793|P:medium-chain fatty acid catabolic process|IDA; GO:1903965|P:monounsaturated fatty acid catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140662,'Experimental MF/BP Leaf Term GOA',NULL,17805,NULL,'GO:1904492|F:Ac-Asp-Glu binding|IDA; GO:1904493|F:tetrahydrofolyl-poly(glutamate) polymer binding|IDA; GO:0035609|P:C-terminal protein deglutamylation|IDA',NULL,NULL,NULL,NULL,NULL),(140663,'Experimental MF/BP Leaf Term GOA',NULL,17808,NULL,'GO:0031870|F:thromboxane A2 receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(140664,'Experimental MF/BP Leaf Term GOA',NULL,17813,NULL,'GO:0042813|F:Wnt-activated receptor activity|IDA; GO:0034260|P:negative regulation of GTPase activity|IMP; GO:0038031|P:non-canonical Wnt signaling pathway via JNK cascade|IMP',NULL,NULL,NULL,NULL,NULL),(140665,'Experimental MF/BP Leaf Term GOA',NULL,17817,NULL,'GO:0004346|F:glucose-6-phosphatase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140666,'Experimental MF/BP Leaf Term GOA',NULL,17818,NULL,'GO:0005536|F:glucose binding|IDA; GO:0004345|F:glucose-6-phosphate dehydrogenase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0010734|P:negative regulation of protein glutathionylation|IMP; GO:0006098|P:pentose-phosphate shunt|IDA; GO:0009051|P:pentose-phosphate shunt, oxidative branch|IMP',NULL,NULL,NULL,NULL,NULL),(140667,'Experimental MF/BP Leaf Term GOA',NULL,17819,NULL,'GO:0004365|F:glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|EXP',NULL,NULL,NULL,NULL,NULL),(140668,'Experimental MF/BP Leaf Term GOA',NULL,17820,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0030170|F:pyridoxal phosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(140669,'Experimental MF/BP Leaf Term GOA',NULL,17821,NULL,'GO:0030145|F:manganese ion binding|IDA; GO:0004653|F:polypeptide N-acetylgalactosaminyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140670,'Experimental MF/BP Leaf Term GOA',NULL,17822,NULL,'GO:0033919|F:glucan 1,3-alpha-glucosidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140671,'Experimental MF/BP Leaf Term GOA',NULL,17826,NULL,'GO:0004416|F:hydroxyacylglutathione hydrolase activity|IDA; GO:0006750|P:glutathione biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140672,'Experimental MF/BP Leaf Term GOA',NULL,17827,NULL,'GO:0016934|F:extracellularly glycine-gated chloride channel activity|IDA; GO:0016594|F:glycine binding|IDA; GO:0030977|F:taurine binding|IDA; GO:0008270|F:zinc ion binding|IMP; GO:0071361|P:cellular response to ethanol|IDA; GO:0071294|P:cellular response to zinc ion|IDA; GO:1902476|P:chloride transmembrane transport|IDA; GO:0001964|P:startle response|IMP',NULL,NULL,NULL,NULL,NULL),(140673,'Experimental MF/BP Leaf Term GOA',NULL,17828,NULL,'GO:0009249|P:protein lipoylation|IMP',NULL,NULL,NULL,NULL,NULL),(140674,'Experimental MF/BP Leaf Term GOA',NULL,17831,NULL,'GO:0007286|P:spermatid development|IMP',NULL,NULL,NULL,NULL,NULL),(140675,'Experimental MF/BP Leaf Term GOA',NULL,17832,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0005080|F:protein kinase C binding|IPI',NULL,NULL,NULL,NULL,NULL),(140676,'Experimental MF/BP Leaf Term GOA',NULL,17833,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0008139|F:nuclear localization sequence binding|IDA; GO:0006607|P:NLS-bearing protein import into nucleus|IDA; GO:0099527|P:postsynapse to nucleus signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140677,'Experimental MF/BP Leaf Term GOA',NULL,17834,NULL,'GO:0047946|F:glutamine N-acyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140678,'Experimental MF/BP Leaf Term GOA',NULL,17842,NULL,'GO:0008109|F:N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|IMP; GO:0036438|P:maintenance of lens transparency|IMP; GO:0034116|P:positive regulation of heterotypic cell-cell adhesion|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(140679,'Experimental MF/BP Leaf Term GOA',NULL,17852,NULL,'GO:0070431|P:nucleotide-binding oligomerization domain containing 2 signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140680,'Experimental MF/BP Leaf Term GOA',NULL,17856,NULL,'GO:1990763|F:arrestin family protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(140681,'Experimental MF/BP Leaf Term GOA',NULL,17858,NULL,'GO:0035240|F:dopamine binding|IDA; GO:0072544|F:L-DOPA binding|IDA; GO:0035643|F:L-DOPA receptor activity|IDA; GO:0072545|F:tyrosine binding|IDA; GO:0035584|P:calcium-mediated signaling using intracellular calcium source|IDA; GO:0032402|P:melanosome transport|IDA',NULL,NULL,NULL,NULL,NULL),(140682,'Experimental MF/BP Leaf Term GOA',NULL,17866,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(140683,'Experimental MF/BP Leaf Term GOA',NULL,17871,NULL,'GO:0030748|F:amine N-methyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140684,'Experimental MF/BP Leaf Term GOA',NULL,17873,NULL,'GO:0001649|P:osteoblast differentiation|IDA; GO:0060045|P:positive regulation of cardiac muscle cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(140685,'Experimental MF/BP Leaf Term GOA',NULL,17880,NULL,'GO:0007098|P:centrosome cycle|IDA; GO:0090307|P:mitotic spindle assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140686,'Experimental MF/BP Leaf Term GOA',NULL,17881,NULL,'GO:0018230|P:peptidyl-L-cysteine S-palmitoylation|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(140687,'Experimental MF/BP Leaf Term GOA',NULL,17882,NULL,'GO:1905793|P:protein localization to pericentriolar material|IMP',NULL,NULL,NULL,NULL,NULL),(140688,'Experimental MF/BP Leaf Term GOA',NULL,17886,NULL,'GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0060352|P:cell adhesion molecule production|IMP; GO:0050901|P:leukocyte tethering or rolling|IMP; GO:0045053|P:protein retention in Golgi apparatus|IMP',NULL,NULL,NULL,NULL,NULL),(140689,'Experimental MF/BP Leaf Term GOA',NULL,17890,NULL,'GO:0005484|F:SNAP receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140690,'Experimental MF/BP Leaf Term GOA',NULL,17891,NULL,'GO:0004905|F:type I interferon receptor activity|IDA; GO:0060337|P:type I interferon signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140691,'Experimental MF/BP Leaf Term GOA',NULL,17893,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0043004|P:cytoplasmic sequestering of CFTR protein|IMP; GO:2000009|P:negative regulation of protein localization to cell surface|IMP',NULL,NULL,NULL,NULL,NULL),(140692,'Experimental MF/BP Leaf Term GOA',NULL,17901,NULL,'GO:0042541|P:hemoglobin biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140693,'Experimental MF/BP Leaf Term GOA',NULL,17906,NULL,'GO:0008142|F:oxysterol binding|IDA; GO:0030890|P:positive regulation of B cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(140694,'Experimental MF/BP Leaf Term GOA',NULL,17909,NULL,'GO:0007596|P:blood coagulation|IMP; GO:0042730|P:fibrinolysis|IDA',NULL,NULL,NULL,NULL,NULL),(140695,'Experimental MF/BP Leaf Term GOA',NULL,17911,NULL,'GO:0004366|F:glycerol-3-phosphate O-acyltransferase activity|IMP; GO:0019432|P:triglyceride biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140696,'Experimental MF/BP Leaf Term GOA',NULL,17912,NULL,'GO:0004366|F:glycerol-3-phosphate O-acyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140697,'Experimental MF/BP Leaf Term GOA',NULL,17914,NULL,'GO:0004366|F:glycerol-3-phosphate O-acyltransferase activity|IDA; GO:0019432|P:triglyceride biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140698,'Experimental MF/BP Leaf Term GOA',NULL,17917,NULL,'GO:0004366|F:glycerol-3-phosphate O-acyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140699,'Experimental MF/BP Leaf Term GOA',NULL,17919,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0090038|P:negative regulation of protein kinase C signaling|IMP; GO:2000010|P:positive regulation of protein localization to cell surface|IMP; GO:0060373|P:regulation of ventricular cardiac muscle cell membrane depolarization|IMP; GO:0086005|P:ventricular cardiac muscle cell action potential|IMP',NULL,NULL,NULL,NULL,NULL),(140700,'Experimental MF/BP Leaf Term GOA',NULL,17922,NULL,'GO:0042632|P:cholesterol homeostasis|IDA; GO:1901303|P:negative regulation of cargo loading into COPII-coated vesicle|IMP; GO:0032933|P:SREBP signaling pathway|IDA; GO:0036316|P:SREBP-SCAP complex retention in endoplasmic reticulum|IDA',NULL,NULL,NULL,NULL,NULL),(140701,'Experimental MF/BP Leaf Term GOA',NULL,17926,NULL,'GO:0005158|F:insulin receptor binding|IDA; GO:0005159|F:insulin-like growth factor receptor binding|IPI; GO:0032148|P:activation of protein kinase B activity|IDA; GO:0055089|P:fatty acid homeostasis|IMP; GO:0045818|P:negative regulation of glycogen catabolic process|IMP; GO:0033861|P:negative regulation of NAD(P)H oxidase activity|IDA; GO:0060266|P:negative regulation of respiratory burst involved in inflammatory response|IDA; GO:1990535|P:neuron projection maintenance|IGI; GO:1902952|P:positive regulation of dendritic spine maintenance|IGI; GO:0046326|P:positive regulation of glucose import|IDA; GO:0045725|P:positive regulation of glycogen biosynthetic process|IDA; GO:0010750|P:positive regulation of nitric oxide mediated signal transduction|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(140702,'Experimental MF/BP Leaf Term GOA',NULL,17929,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0031531|F:thyrotropin-releasing hormone receptor binding|IMP',NULL,NULL,NULL,NULL,NULL),(140703,'Experimental MF/BP Leaf Term GOA',NULL,17933,NULL,'GO:0004862|F:cAMP-dependent protein kinase inhibitor activity|IDA; GO:0034236|F:protein kinase A catalytic subunit binding|IPI; GO:2000480|P:negative regulation of cAMP-dependent protein kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140704,'Experimental MF/BP Leaf Term GOA',NULL,17935,NULL,'GO:0000825|F:inositol tetrakisphosphate 6-kinase activity|IMP; GO:0070266|P:necroptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(140705,'Experimental MF/BP Leaf Term GOA',NULL,17937,NULL,'GO:0006335|P:DNA replication-dependent nucleosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140706,'Experimental MF/BP Leaf Term GOA',NULL,17939,NULL,'GO:0046982|F:protein heterodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140707,'Experimental MF/BP Leaf Term GOA',NULL,17941,NULL,'GO:0031532|P:actin cytoskeleton reorganization|IMP; GO:0090668|P:endothelial cell chemotaxis to vascular endothelial growth factor|IMP',NULL,NULL,NULL,NULL,NULL),(140708,'Experimental MF/BP Leaf Term GOA',NULL,17942,NULL,'GO:0046966|F:thyroid hormone receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(140709,'Experimental MF/BP Leaf Term GOA',NULL,17946,NULL,'GO:0004966|F:galanin receptor activity|IDA; GO:0090663|P:galanin-activated signaling pathway|IDA; GO:1902608|P:positive regulation of large conductance calcium-activated potassium channel activity|IMP',NULL,NULL,NULL,NULL,NULL),(140710,'Experimental MF/BP Leaf Term GOA',NULL,17948,NULL,'GO:0036122|F:BMP binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0030199|P:collagen fibril organization|IMP; GO:0048263|P:determination of dorsal identity|IMP; GO:0060173|P:limb development|IMP; GO:1900158|P:negative regulation of bone mineralization involved in bone maturation|IMP; GO:1900155|P:negative regulation of bone trabecula formation|IMP; GO:0033689|P:negative regulation of osteoblast proliferation|IMP; GO:0090291|P:negative regulation of osteoclast proliferation|IMP; GO:0060394|P:negative regulation of pathway-restricted SMAD protein phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(140711,'Experimental MF/BP Leaf Term GOA',NULL,17951,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140712,'Experimental MF/BP Leaf Term GOA',NULL,17952,NULL,'GO:0004971|F:AMPA glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140713,'Experimental MF/BP Leaf Term GOA',NULL,17953,NULL,'GO:0032190|F:acrosin binding|IPI; GO:0031210|F:phosphatidylcholine binding|IDA; GO:0001972|F:retinoic acid binding|IDA; GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140714,'Experimental MF/BP Leaf Term GOA',NULL,17954,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0070830|P:bicellular tight junction assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140715,'Experimental MF/BP Leaf Term GOA',NULL,17957,NULL,'GO:0047696|F:beta-adrenergic receptor kinase activity|IMP',NULL,NULL,NULL,NULL,NULL),(140716,'Experimental MF/BP Leaf Term GOA',NULL,17960,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0050908|P:detection of light stimulus involved in visual perception|IMP',NULL,NULL,NULL,NULL,NULL),(140717,'Experimental MF/BP Leaf Term GOA',NULL,17961,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0035458|P:cellular response to interferon-beta|IDA; GO:0071260|P:cellular response to mechanical stimulus|IEP',NULL,NULL,NULL,NULL,NULL),(140718,'Experimental MF/BP Leaf Term GOA',NULL,17962,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP',NULL,NULL,NULL,NULL,NULL),(140719,'Experimental MF/BP Leaf Term GOA',NULL,17966,NULL,'GO:0043531|F:ADP binding|IDA; GO:0016595|F:glutamate binding|IDA; GO:0004357|F:glutamate-cysteine ligase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0045454|P:cell redox homeostasis|IDA; GO:0006750|P:glutathione biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140720,'Experimental MF/BP Leaf Term GOA',NULL,17969,NULL,'GO:0043295|F:glutathione binding|IDA; GO:0004364|F:glutathione transferase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0070458|P:cellular detoxification of nitrogen compound|IDA',NULL,NULL,NULL,NULL,NULL),(140721,'Experimental MF/BP Leaf Term GOA',NULL,17970,NULL,'GO:0004602|F:glutathione peroxidase activity|IDA; GO:0004364|F:glutathione transferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140722,'Experimental MF/BP Leaf Term GOA',NULL,17972,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0086014|P:atrial cardiac muscle cell action potential|IMP; GO:0060048|P:cardiac muscle contraction|IMP; GO:1903765|P:negative regulation of potassium ion export across plasma membrane|IDA; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0086005|P:ventricular cardiac muscle cell action potential|IMP',NULL,NULL,NULL,NULL,NULL),(140723,'Experimental MF/BP Leaf Term GOA',NULL,17974,NULL,'GO:0055131|F:C3HC4-type RING finger domain binding|IPI; GO:0005251|F:delayed rectifier potassium channel activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0097110|F:scaffold protein binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1902282|F:voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization|IMP; GO:0060048|P:cardiac muscle contraction|IMP; GO:0098915|P:membrane repolarization during ventricular cardiac muscle cell action potential|IMP; GO:1903765|P:negative regulation of potassium ion export across plasma membrane|IDA; GO:0097623|P:potassium ion export across plasma membrane|IDA; GO:1990573|P:potassium ion import across plasma membrane|IDA; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0086005|P:ventricular cardiac muscle cell action potential|IMP',NULL,NULL,NULL,NULL,NULL),(140724,'Experimental MF/BP Leaf Term GOA',NULL,17976,NULL,'GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(140725,'Experimental MF/BP Leaf Term GOA',NULL,17977,NULL,'GO:0086089|F:voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization|IMP; GO:0098914|P:membrane repolarization during atrial cardiac muscle cell action potential|IMP; GO:1990573|P:potassium ion import across plasma membrane|IDA; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(140726,'Experimental MF/BP Leaf Term GOA',NULL,17978,NULL,'GO:0003921|F:GMP synthase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140727,'Experimental MF/BP Leaf Term GOA',NULL,17983,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0016286|F:small conductance calcium-activated potassium channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(140728,'Experimental MF/BP Leaf Term GOA',NULL,17985,NULL,'GO:0004512|F:inositol-3-phosphate synthase activity|IMP',NULL,NULL,NULL,NULL,NULL),(140729,'Experimental MF/BP Leaf Term GOA',NULL,17989,NULL,'GO:0030200|P:heparan sulfate proteoglycan catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140730,'Experimental MF/BP Leaf Term GOA',NULL,17990,NULL,'GO:0060422|F:peptidyl-dipeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140731,'Experimental MF/BP Leaf Term GOA',NULL,17993,NULL,'GO:0034485|F:phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity|IDA; GO:0004439|F:phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|IMP; GO:0071364|P:cellular response to epidermal growth factor stimulus|IDA; GO:0032869|P:cellular response to insulin stimulus|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0043922|P:negative regulation by host of viral transcription|IDA; GO:0045719|P:negative regulation of glycogen biosynthetic process|IDA; GO:0010801|P:negative regulation of peptidyl-threonine phosphorylation|IDA; GO:0051898|P:negative regulation of protein kinase B signaling|IDA; GO:0045869|P:negative regulation of single stranded viral RNA replication via double stranded DNA intermediate|IDA; GO:0051497|P:negative regulation of stress fiber assembly|IDA; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA; GO:0097178|P:ruffle assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140732,'Experimental MF/BP Leaf Term GOA',NULL,18008,NULL,'GO:0071392|P:cellular response to estradiol stimulus|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP; GO:0051898|P:negative regulation of protein kinase B signaling|IMP; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IMP; GO:2000724|P:positive regulation of cardiac vascular smooth muscle cell differentiation|IMP; GO:0032962|P:positive regulation of inositol trisphosphate biosynthetic process|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0070474|P:positive regulation of uterine smooth muscle contraction|IDA',NULL,NULL,NULL,NULL,NULL),(140733,'Experimental MF/BP Leaf Term GOA',NULL,18010,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0031531|F:thyrotropin-releasing hormone receptor binding|IMP',NULL,NULL,NULL,NULL,NULL),(140734,'Experimental MF/BP Leaf Term GOA',NULL,18012,NULL,'GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(140735,'Experimental MF/BP Leaf Term GOA',NULL,18013,NULL,'GO:0005251|F:delayed rectifier potassium channel activity|IDA; GO:0031433|F:telethonin binding|IPI; GO:0071320|P:cellular response to cAMP|IDA; GO:0098915|P:membrane repolarization during ventricular cardiac muscle cell action potential|IMP; GO:1902260|P:negative regulation of delayed rectifier potassium channel activity|IDA; GO:0097623|P:potassium ion export across plasma membrane|IDA; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP; GO:0086005|P:ventricular cardiac muscle cell action potential|IMP',NULL,NULL,NULL,NULL,NULL),(140736,'Experimental MF/BP Leaf Term GOA',NULL,18014,NULL,'GO:0045174|F:glutathione dehydrogenase (ascorbate) activity|IDA; GO:0004364|F:glutathione transferase activity|IDA; GO:0060315|P:negative regulation of ryanodine-sensitive calcium-release channel activity|IDA; GO:0060316|P:positive regulation of ryanodine-sensitive calcium-release channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(140737,'Experimental MF/BP Leaf Term GOA',NULL,18015,NULL,'GO:0004602|F:glutathione peroxidase activity|IDA; GO:0004364|F:glutathione transferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140738,'Experimental MF/BP Leaf Term GOA',NULL,18017,NULL,'GO:0043295|F:glutathione binding|IDA; GO:0004364|F:glutathione transferase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0070458|P:cellular detoxification of nitrogen compound|IDA',NULL,NULL,NULL,NULL,NULL),(140739,'Experimental MF/BP Leaf Term GOA',NULL,18018,NULL,'GO:0043295|F:glutathione binding|IDA; GO:0004602|F:glutathione peroxidase activity|IDA; GO:0004364|F:glutathione transferase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0070458|P:cellular detoxification of nitrogen compound|IDA; GO:0071313|P:cellular response to caffeine|IDA; GO:0043651|P:linoleic acid metabolic process|IDA; GO:0060315|P:negative regulation of ryanodine-sensitive calcium-release channel activity|IDA; GO:0060316|P:positive regulation of ryanodine-sensitive calcium-release channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(140740,'Experimental MF/BP Leaf Term GOA',NULL,18023,NULL,'GO:0032869|P:cellular response to insulin stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(140741,'Experimental MF/BP Leaf Term GOA',NULL,18024,NULL,'GO:0004372|F:glycine hydroxymethyltransferase activity|IDA; GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0030170|F:pyridoxal phosphate binding|IDA; GO:0070905|F:serine binding|IDA; GO:0000900|F:translation repressor activity, mRNA regulatory element binding|IDA; GO:1904482|P:cellular response to tetrahydrofolate|IDA; GO:0006565|P:L-serine catabolic process|IDA; GO:0051289|P:protein homotetramerization|IDA; GO:0035999|P:tetrahydrofolate interconversion|IDA',NULL,NULL,NULL,NULL,NULL),(140742,'Experimental MF/BP Leaf Term GOA',NULL,18026,NULL,'GO:0007079|P:mitotic chromosome movement towards spindle pole|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:0090307|P:mitotic spindle assembly|IMP; GO:0006610|P:ribosomal protein import into nucleus|IDA',NULL,NULL,NULL,NULL,NULL),(140743,'Experimental MF/BP Leaf Term GOA',NULL,18029,NULL,'GO:0003938|F:IMP dehydrogenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140744,'Experimental MF/BP Leaf Term GOA',NULL,18032,NULL,'GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IMP',NULL,NULL,NULL,NULL,NULL),(140745,'Experimental MF/BP Leaf Term GOA',NULL,18033,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0002818|P:intracellular defense response|IDA',NULL,NULL,NULL,NULL,NULL),(140746,'Experimental MF/BP Leaf Term GOA',NULL,18034,NULL,'GO:0016594|F:glycine binding|IDA; GO:0017174|F:glycine N-methyltransferase activity|IDA; GO:0051289|P:protein homotetramerization|IPI',NULL,NULL,NULL,NULL,NULL),(140747,'Experimental MF/BP Leaf Term GOA',NULL,18037,NULL,'GO:0008934|F:inositol monophosphate 1-phosphatase activity|IDA; GO:0031403|F:lithium ion binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140748,'Experimental MF/BP Leaf Term GOA',NULL,18038,NULL,'GO:0008934|F:inositol monophosphate 1-phosphatase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140749,'Experimental MF/BP Leaf Term GOA',NULL,18040,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(140750,'Experimental MF/BP Leaf Term GOA',NULL,18056,NULL,'GO:0032933|P:SREBP signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140751,'Experimental MF/BP Leaf Term GOA',NULL,18059,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0060290|P:transdifferentiation|IDA',NULL,NULL,NULL,NULL,NULL),(140752,'Experimental MF/BP Leaf Term GOA',NULL,18060,NULL,'GO:0031532|P:actin cytoskeleton reorganization|IDA',NULL,NULL,NULL,NULL,NULL),(140753,'Experimental MF/BP Leaf Term GOA',NULL,18061,NULL,'GO:0001540|F:amyloid-beta binding|IPI; GO:0005524|F:ATP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0043559|F:insulin binding|IDA; GO:0043560|F:insulin receptor substrate binding|IPI; GO:0005009|F:insulin-activated receptor activity|IDA; GO:0031994|F:insulin-like growth factor I binding|IPI; GO:0031995|F:insulin-like growth factor II binding|IPI; GO:0005159|F:insulin-like growth factor receptor binding|IDA; GO:0051425|F:PTB domain binding|IPI; GO:0032148|P:activation of protein kinase B activity|IDA; GO:0032869|P:cellular response to insulin stimulus|IDA; GO:0003007|P:heart morphogenesis|IMP; GO:0046326|P:positive regulation of glucose import|IDA; GO:0045725|P:positive regulation of glycogen biosynthetic process|IDA; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IMP; GO:0051290|P:protein heterotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(140754,'Experimental MF/BP Leaf Term GOA',NULL,18065,NULL,'GO:0016934|F:extracellularly glycine-gated chloride channel activity|IDA; GO:0022852|F:glycine-gated chloride ion channel activity|IDA; GO:1902476|P:chloride transmembrane transport|IDA',NULL,NULL,NULL,NULL,NULL),(140755,'Experimental MF/BP Leaf Term GOA',NULL,18066,NULL,'GO:1902476|P:chloride transmembrane transport|IMP; GO:0007399|P:nervous system development|IMP; GO:0001964|P:startle response|IMP',NULL,NULL,NULL,NULL,NULL),(140756,'Experimental MF/BP Leaf Term GOA',NULL,18067,NULL,'GO:0004653|F:polypeptide N-acetylgalactosaminyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140757,'Experimental MF/BP Leaf Term GOA',NULL,18068,NULL,'GO:0005112|F:Notch binding|IDA; GO:0004653|F:polypeptide N-acetylgalactosaminyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140758,'Experimental MF/BP Leaf Term GOA',NULL,18069,NULL,'GO:0004653|F:polypeptide N-acetylgalactosaminyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140759,'Experimental MF/BP Leaf Term GOA',NULL,18071,NULL,'GO:0004653|F:polypeptide N-acetylgalactosaminyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140760,'Experimental MF/BP Leaf Term GOA',NULL,18072,NULL,'GO:0047961|F:glycine N-acyltransferase activity|IDA; GO:0047962|F:glycine N-benzoyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140761,'Experimental MF/BP Leaf Term GOA',NULL,18077,NULL,'GO:0004372|F:glycine hydroxymethyltransferase activity|IDA; GO:0030170|F:pyridoxal phosphate binding|IDA; GO:0051289|P:protein homotetramerization|IDA; GO:1903715|P:regulation of aerobic respiration|IMP',NULL,NULL,NULL,NULL,NULL),(140762,'Experimental MF/BP Leaf Term GOA',NULL,18078,NULL,'GO:0008466|F:glycogenin glucosyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140763,'Experimental MF/BP Leaf Term GOA',NULL,18079,NULL,'GO:0008446|F:GDP-mannose 4,6-dehydratase activity|IDA; GO:0070401|F:NADP+ binding|IDA; GO:0042351|P:\'de novo\' GDP-L-fucose biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140764,'Experimental MF/BP Leaf Term GOA',NULL,18080,NULL,'GO:0003938|F:IMP dehydrogenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140765,'Experimental MF/BP Leaf Term GOA',NULL,18081,NULL,'GO:0003920|F:GMP reductase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140766,'Experimental MF/BP Leaf Term GOA',NULL,18085,NULL,'GO:0051482|P:positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway|IPI',NULL,NULL,NULL,NULL,NULL),(140767,'Experimental MF/BP Leaf Term GOA',NULL,18088,NULL,'GO:0070527|P:platelet aggregation|IMP',NULL,NULL,NULL,NULL,NULL),(140768,'Experimental MF/BP Leaf Term GOA',NULL,18089,NULL,'GO:0050908|P:detection of light stimulus involved in visual perception|IMP; GO:0007603|P:phototransduction, visible light|IMP',NULL,NULL,NULL,NULL,NULL),(140769,'Experimental MF/BP Leaf Term GOA',NULL,18094,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0031682|F:G-protein gamma-subunit binding|IPI; GO:0005096|F:GTPase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(140770,'Experimental MF/BP Leaf Term GOA',NULL,18097,NULL,'GO:0030035|P:microspike assembly|IDA; GO:0090091|P:positive regulation of extracellular matrix disassembly|IDA; GO:0051491|P:positive regulation of filopodium assembly|IDA; GO:0010592|P:positive regulation of lamellipodium assembly|IDA; GO:0071803|P:positive regulation of podosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140771,'Experimental MF/BP Leaf Term GOA',NULL,18099,NULL,'GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0051835|P:positive regulation of synapse structural plasticity|IMP',NULL,NULL,NULL,NULL,NULL),(140772,'Experimental MF/BP Leaf Term GOA',NULL,18100,NULL,'GO:0030412|F:formimidoyltetrahydrofolate cyclodeaminase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140773,'Experimental MF/BP Leaf Term GOA',NULL,18104,NULL,'GO:1900745|P:positive regulation of p38MAPK cascade|IDA',NULL,NULL,NULL,NULL,NULL),(140774,'Experimental MF/BP Leaf Term GOA',NULL,18106,NULL,'GO:0070742|F:C2H2 zinc finger domain binding|IPI; GO:0035854|P:eosinophil fate commitment|IDA; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IMP; GO:1903589|P:positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IMP; GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IMP; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(140775,'Experimental MF/BP Leaf Term GOA',NULL,18108,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IMP; GO:0050829|P:defense response to Gram-negative bacterium|IMP',NULL,NULL,NULL,NULL,NULL),(140776,'Experimental MF/BP Leaf Term GOA',NULL,18110,NULL,'GO:0031681|F:G-protein beta-subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(140777,'Experimental MF/BP Leaf Term GOA',NULL,18111,NULL,'GO:0031681|F:G-protein beta-subunit binding|IPI',NULL,NULL,NULL,NULL,NULL),(140778,'Experimental MF/BP Leaf Term GOA',NULL,18113,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071356|P:cellular response to tumor necrosis factor|IEP',NULL,NULL,NULL,NULL,NULL),(140779,'Experimental MF/BP Leaf Term GOA',NULL,18118,NULL,'GO:0031994|F:insulin-like growth factor I binding|IDA; GO:0031995|F:insulin-like growth factor II binding|IDA',NULL,NULL,NULL,NULL,NULL),(140780,'Experimental MF/BP Leaf Term GOA',NULL,18119,NULL,'GO:0031994|F:insulin-like growth factor I binding|IDA; GO:0042104|P:positive regulation of activated T cell proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(140781,'Experimental MF/BP Leaf Term GOA',NULL,18120,NULL,'GO:0031994|F:insulin-like growth factor I binding|IPI; GO:0008160|F:protein tyrosine phosphatase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(140782,'Experimental MF/BP Leaf Term GOA',NULL,18122,NULL,'GO:0031994|F:insulin-like growth factor I binding|IPI; GO:0071320|P:cellular response to cAMP|IDA; GO:0043569|P:negative regulation of insulin-like growth factor receptor signaling pathway|IDA; GO:1904754|P:positive regulation of vascular associated smooth muscle cell migration|IGI; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IGI',NULL,NULL,NULL,NULL,NULL),(140783,'Experimental MF/BP Leaf Term GOA',NULL,18123,NULL,'GO:0031995|F:insulin-like growth factor II binding|IMP',NULL,NULL,NULL,NULL,NULL),(140784,'Experimental MF/BP Leaf Term GOA',NULL,18125,NULL,'GO:0071228|P:cellular response to tumor cell|IEP',NULL,NULL,NULL,NULL,NULL),(140785,'Experimental MF/BP Leaf Term GOA',NULL,18127,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140786,'Experimental MF/BP Leaf Term GOA',NULL,18130,NULL,'GO:0010859|F:calcium-dependent cysteine-type endopeptidase inhibitor activity|IMP; GO:2000675|P:negative regulation of type B pancreatic cell apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(140787,'Experimental MF/BP Leaf Term GOA',NULL,18131,NULL,'GO:0022614|P:membrane to membrane docking|IEP; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IDA; GO:0002291|P:T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|IMP',NULL,NULL,NULL,NULL,NULL),(140788,'Experimental MF/BP Leaf Term GOA',NULL,18136,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0007214|P:gamma-aminobutyric acid signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140789,'Experimental MF/BP Leaf Term GOA',NULL,18138,NULL,'GO:0004335|F:galactokinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140790,'Experimental MF/BP Leaf Term GOA',NULL,18140,NULL,'GO:0004081|F:bis(5\'-nucleosyl)-tetraphosphatase (asymmetrical) activity|IDA; GO:0004820|F:glycine-tRNA ligase activity|IDA; GO:0015966|P:diadenosine tetraphosphate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140791,'Experimental MF/BP Leaf Term GOA',NULL,18141,NULL,'GO:0015068|F:glycine amidinotransferase activity|IDA; GO:0006601|P:creatine biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140792,'Experimental MF/BP Leaf Term GOA',NULL,18143,NULL,'GO:0016913|F:follicle-stimulating hormone activity|IDA',NULL,NULL,NULL,NULL,NULL),(140793,'Experimental MF/BP Leaf Term GOA',NULL,18144,NULL,'GO:0044508|F:glucagon-like peptide 1 receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140794,'Experimental MF/BP Leaf Term GOA',NULL,18150,NULL,'GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA',NULL,NULL,NULL,NULL,NULL),(140795,'Experimental MF/BP Leaf Term GOA',NULL,18156,NULL,'GO:0044571|P:[2Fe-2S] cluster assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140796,'Experimental MF/BP Leaf Term GOA',NULL,18157,NULL,'GO:0004359|F:glutaminase activity|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(140797,'Experimental MF/BP Leaf Term GOA',NULL,18162,NULL,'GO:1901098|P:positive regulation of autophagosome maturation|IMP',NULL,NULL,NULL,NULL,NULL),(140798,'Experimental MF/BP Leaf Term GOA',NULL,18164,NULL,'GO:0061513|F:glucose 6-phosphate:inorganic phosphate antiporter activity|IDA; GO:0015760|P:glucose-6-phosphate transport|IDA',NULL,NULL,NULL,NULL,NULL),(140799,'Experimental MF/BP Leaf Term GOA',NULL,18165,NULL,'GO:0004965|F:G protein-coupled GABA receptor activity|IDA; GO:0007214|P:gamma-aminobutyric acid signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140800,'Experimental MF/BP Leaf Term GOA',NULL,18166,NULL,'GO:0008108|F:UDP-glucose:hexose-1-phosphate uridylyltransferase activity|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140801,'Experimental MF/BP Leaf Term GOA',NULL,18168,NULL,'GO:0004653|F:polypeptide N-acetylgalactosaminyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140802,'Experimental MF/BP Leaf Term GOA',NULL,18170,NULL,'GO:0034513|F:box H/ACA snoRNA binding|IPI; GO:0070034|F:telomerase RNA binding|IPI; GO:0007004|P:telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(140803,'Experimental MF/BP Leaf Term GOA',NULL,18172,NULL,'GO:0050567|F:glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity|IDA; GO:0070681|P:glutaminyl-tRNAGln biosynthesis via transamidation|IDA; GO:0032543|P:mitochondrial translation|IMP',NULL,NULL,NULL,NULL,NULL),(140804,'Experimental MF/BP Leaf Term GOA',NULL,18174,NULL,'GO:0030165|F:PDZ domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(140805,'Experimental MF/BP Leaf Term GOA',NULL,18178,NULL,'GO:0030165|F:PDZ domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(140806,'Experimental MF/BP Leaf Term GOA',NULL,18179,NULL,'GO:0019003|F:GDP binding|IDA; GO:0005525|F:GTP binding|IDA; GO:0051879|F:Hsp90 protein binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0030507|F:spectrin binding|IPI; GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071356|P:cellular response to tumor necrosis factor|IEP; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP; GO:1900041|P:negative regulation of interleukin-2 secretion|IMP; GO:1900025|P:negative regulation of substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(140807,'Experimental MF/BP Leaf Term GOA',NULL,18180,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0071346|P:cellular response to interferon-gamma|IDA; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071356|P:cellular response to tumor necrosis factor|IEP',NULL,NULL,NULL,NULL,NULL),(140808,'Experimental MF/BP Leaf Term GOA',NULL,18181,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0071346|P:cellular response to interferon-gamma|IEP',NULL,NULL,NULL,NULL,NULL),(140809,'Experimental MF/BP Leaf Term GOA',NULL,18182,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0071346|P:cellular response to interferon-gamma|IEP; GO:0050702|P:interleukin-1 beta secretion|IMP; GO:1900227|P:positive regulation of NLRP3 inflammasome complex assembly|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(140810,'Experimental MF/BP Leaf Term GOA',NULL,18183,NULL,'GO:1990000|P:amyloid fibril formation|IDA; GO:1905665|P:positive regulation of calcium ion import across plasma membrane|IGI; GO:0010739|P:positive regulation of protein kinase A signaling|IGI; GO:0051897|P:positive regulation of protein kinase B signaling|IGI; GO:0031648|P:protein destabilization|IDA',NULL,NULL,NULL,NULL,NULL),(140811,'Experimental MF/BP Leaf Term GOA',NULL,18186,NULL,'GO:0048009|P:insulin-like growth factor receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140812,'Experimental MF/BP Leaf Term GOA',NULL,18187,NULL,'GO:0004449|F:isocitrate dehydrogenase (NAD+) activity|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140813,'Experimental MF/BP Leaf Term GOA',NULL,18189,NULL,'GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140814,'Experimental MF/BP Leaf Term GOA',NULL,18190,NULL,'GO:0051990|F:(R)-2-hydroxyglutarate dehydrogenase activity|EXP; GO:0004450|F:isocitrate dehydrogenase (NADP+) activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0006102|P:isocitrate metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140815,'Experimental MF/BP Leaf Term GOA',NULL,18191,NULL,'GO:0004450|F:isocitrate dehydrogenase (NADP+) activity|IDA',NULL,NULL,NULL,NULL,NULL),(140816,'Experimental MF/BP Leaf Term GOA',NULL,18192,NULL,'GO:0046697|P:decidualization|IDA; GO:0042322|P:negative regulation of circadian sleep/wake cycle, REM sleep|IDA; GO:0045409|P:negative regulation of interleukin-6 biosynthetic process|IDA; GO:0042536|P:negative regulation of tumor necrosis factor biosynthetic process|IDA; GO:0046010|P:positive regulation of circadian sleep/wake cycle, non-REM sleep|IDA; GO:0051461|P:positive regulation of corticotropin secretion|IDA; GO:0051464|P:positive regulation of cortisol secretion|IDA; GO:0060124|P:positive regulation of growth hormone secretion|IDA',NULL,NULL,NULL,NULL,NULL),(140817,'Experimental MF/BP Leaf Term GOA',NULL,18195,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140818,'Experimental MF/BP Leaf Term GOA',NULL,18197,NULL,'GO:0097718|F:disordered domain specific binding|IMP; GO:0070840|F:dynein complex binding|IDA; GO:0051011|F:microtubule minus-end binding|IDA; GO:0051010|F:microtubule plus-end binding|IDA; GO:0008022|F:protein C-terminus binding|IMP; GO:1902846|P:positive regulation of mitotic spindle elongation|IMP; GO:1902365|P:positive regulation of protein localization to spindle pole body|IDA; GO:1905832|P:positive regulation of spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140819,'Experimental MF/BP Leaf Term GOA',NULL,18203,NULL,'GO:0047498|F:calcium-dependent phospholipase A2 activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA; GO:0002227|P:innate immune response in mucosa|IDA',NULL,NULL,NULL,NULL,NULL),(140820,'Experimental MF/BP Leaf Term GOA',NULL,18204,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(140821,'Experimental MF/BP Leaf Term GOA',NULL,18205,NULL,'GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0002042|P:cell migration involved in sprouting angiogenesis|IGI; GO:0043491|P:protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(140822,'Experimental MF/BP Leaf Term GOA',NULL,18206,NULL,'GO:0051977|P:lysophospholipid transport|IDA',NULL,NULL,NULL,NULL,NULL),(140823,'Experimental MF/BP Leaf Term GOA',NULL,18207,NULL,'GO:0008143|F:poly(A) binding|IDA',NULL,NULL,NULL,NULL,NULL),(140824,'Experimental MF/BP Leaf Term GOA',NULL,18210,NULL,'GO:0008198|F:ferrous iron binding|IDA; GO:0048244|F:phytanoyl-CoA dioxygenase activity|IDA; GO:0001561|P:fatty acid alpha-oxidation|IDA',NULL,NULL,NULL,NULL,NULL),(140825,'Experimental MF/BP Leaf Term GOA',NULL,18211,NULL,'GO:0000900|F:translation repressor activity, mRNA regulatory element binding|IDA',NULL,NULL,NULL,NULL,NULL),(140826,'Experimental MF/BP Leaf Term GOA',NULL,18212,NULL,'GO:0008494|F:translation activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(140827,'Experimental MF/BP Leaf Term GOA',NULL,18213,NULL,'GO:2000352|P:negative regulation of endothelial cell apoptotic process|IMP',NULL,NULL,NULL,NULL,NULL),(140828,'Experimental MF/BP Leaf Term GOA',NULL,18220,NULL,'GO:0046592|F:polyamine oxidase activity|IDA; GO:1901307|P:positive regulation of spermidine biosynthetic process|IDA; GO:0009447|P:putrescine catabolic process|IDA; GO:0046203|P:spermidine catabolic process|IDA; GO:0046208|P:spermine catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140829,'Experimental MF/BP Leaf Term GOA',NULL,18222,NULL,'GO:1905502|F:acetyl-CoA binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0004594|F:pantothenate kinase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0015937|P:coenzyme A biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(140830,'Experimental MF/BP Leaf Term GOA',NULL,18225,NULL,'GO:0003950|F:NAD+ ADP-ribosyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140831,'Experimental MF/BP Leaf Term GOA',NULL,18228,NULL,'GO:0001658|P:branching involved in ureteric bud morphogenesis|IEP; GO:0007417|P:central nervous system development|IEP; GO:0072278|P:metanephric comma-shaped body morphogenesis|IEP; GO:0072284|P:metanephric S-shaped body morphogenesis|IEP; GO:0071599|P:otic vesicle development|IEP; GO:2000611|P:positive regulation of thyroid hormone generation|IMP; GO:0030878|P:thyroid gland development|IMP',NULL,NULL,NULL,NULL,NULL),(140832,'Experimental MF/BP Leaf Term GOA',NULL,18229,NULL,'GO:0045719|P:negative regulation of glycogen biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140833,'Experimental MF/BP Leaf Term GOA',NULL,18230,NULL,'GO:0000070|P:mitotic sister chromatid segregation|IDA',NULL,NULL,NULL,NULL,NULL),(140834,'Experimental MF/BP Leaf Term GOA',NULL,18241,NULL,'GO:0004735|F:pyrroline-5-carboxylate reductase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140835,'Experimental MF/BP Leaf Term GOA',NULL,18243,NULL,'GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(140836,'Experimental MF/BP Leaf Term GOA',NULL,18244,NULL,'GO:0016584|P:nucleosome positioning|IMP; GO:0032968|P:positive regulation of transcription elongation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(140837,'Experimental MF/BP Leaf Term GOA',NULL,18246,NULL,'GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0048012|P:hepatocyte growth factor receptor signaling pathway|IMP; GO:0060244|P:negative regulation of cell proliferation involved in contact inhibition|IMP; GO:0033148|P:positive regulation of intracellular estrogen receptor signaling pathway|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140838,'Experimental MF/BP Leaf Term GOA',NULL,18247,NULL,'GO:2001271|P:negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis|IDA',NULL,NULL,NULL,NULL,NULL),(140839,'Experimental MF/BP Leaf Term GOA',NULL,18250,NULL,'GO:0008063|P:Toll signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140840,'Experimental MF/BP Leaf Term GOA',NULL,18252,NULL,'GO:0004535|F:poly(A)-specific ribonuclease activity|IDA',NULL,NULL,NULL,NULL,NULL),(140841,'Experimental MF/BP Leaf Term GOA',NULL,18254,NULL,'GO:0004018|F:N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity|IDA',NULL,NULL,NULL,NULL,NULL),(140842,'Experimental MF/BP Leaf Term GOA',NULL,18255,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140843,'Experimental MF/BP Leaf Term GOA',NULL,18256,NULL,'GO:0055077|F:gap junction hemi-channel activity|IDA; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA; GO:0034214|P:protein hexamerization|IDA',NULL,NULL,NULL,NULL,NULL),(140844,'Experimental MF/BP Leaf Term GOA',NULL,18260,NULL,'GO:0051539|F:4 iron, 4 sulfur cluster binding|IDA; GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP; GO:0070584|P:mitochondrion morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(140845,'Experimental MF/BP Leaf Term GOA',NULL,18261,NULL,'GO:0002039|F:p53 binding|IPI',NULL,NULL,NULL,NULL,NULL),(140846,'Experimental MF/BP Leaf Term GOA',NULL,18263,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0001920|P:negative regulation of receptor recycling|IMP; GO:0061734|P:parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization|IMP; GO:1904417|P:positive regulation of xenophagy|IMP',NULL,NULL,NULL,NULL,NULL),(140847,'Experimental MF/BP Leaf Term GOA',NULL,18284,NULL,'GO:0008083|F:growth factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140848,'Experimental MF/BP Leaf Term GOA',NULL,18285,NULL,'GO:0015485|F:cholesterol binding|IDA',NULL,NULL,NULL,NULL,NULL),(140849,'Experimental MF/BP Leaf Term GOA',NULL,18286,NULL,'GO:0015485|F:cholesterol binding|IDA',NULL,NULL,NULL,NULL,NULL),(140850,'Experimental MF/BP Leaf Term GOA',NULL,18287,NULL,'GO:0032782|P:bile acid secretion|IPI',NULL,NULL,NULL,NULL,NULL),(140851,'Experimental MF/BP Leaf Term GOA',NULL,18289,NULL,'GO:0004585|F:ornithine carbamoyltransferase activity|IDA; GO:0019240|P:citrulline biosynthetic process|IDA; GO:0000050|P:urea cycle|IDA',NULL,NULL,NULL,NULL,NULL),(140852,'Experimental MF/BP Leaf Term GOA',NULL,18290,NULL,'GO:0004992|F:platelet activating factor receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140853,'Experimental MF/BP Leaf Term GOA',NULL,18297,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0035871|P:protein K11-linked deubiquitination|IDA; GO:1990167|P:protein K27-linked deubiquitination|IDA; GO:0035523|P:protein K29-linked deubiquitination|IDA; GO:1990168|P:protein K33-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140854,'Experimental MF/BP Leaf Term GOA',NULL,18299,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0035871|P:protein K11-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140855,'Experimental MF/BP Leaf Term GOA',NULL,18300,NULL,'GO:1990380|F:Lys48-specific deubiquitinase activity|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0035871|P:protein K11-linked deubiquitination|IDA; GO:0071108|P:protein K48-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140856,'Experimental MF/BP Leaf Term GOA',NULL,18303,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA',NULL,NULL,NULL,NULL,NULL),(140857,'Experimental MF/BP Leaf Term GOA',NULL,18304,NULL,'GO:0016499|F:orexin receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140858,'Experimental MF/BP Leaf Term GOA',NULL,18305,NULL,'GO:0010944|P:negative regulation of transcription by competitive promoter binding|IDA',NULL,NULL,NULL,NULL,NULL),(140859,'Experimental MF/BP Leaf Term GOA',NULL,18309,NULL,'GO:0004045|F:aminoacyl-tRNA hydrolase activity|IMP; GO:2000811|P:negative regulation of anoikis|IMP; GO:2000210|P:positive regulation of anoikis|IMP',NULL,NULL,NULL,NULL,NULL),(140860,'Experimental MF/BP Leaf Term GOA',NULL,18310,NULL,'GO:0001621|F:ADP receptor activity|IDA; GO:0070527|P:platelet aggregation|IMP',NULL,NULL,NULL,NULL,NULL),(140861,'Experimental MF/BP Leaf Term GOA',NULL,18311,NULL,'GO:0005524|F:ATP binding|IDA; GO:0004931|F:extracellularly ATP-gated cation channel activity|IDA; GO:0070207|P:protein homotrimerization|IDA',NULL,NULL,NULL,NULL,NULL),(140862,'Experimental MF/BP Leaf Term GOA',NULL,18312,NULL,'GO:0004931|F:extracellularly ATP-gated cation channel activity|IDA; GO:0055119|P:relaxation of cardiac muscle|IMP',NULL,NULL,NULL,NULL,NULL),(140863,'Experimental MF/BP Leaf Term GOA',NULL,18314,NULL,'GO:0004931|F:extracellularly ATP-gated cation channel activity|IDA; GO:0032060|P:bleb assembly|IDA; GO:0045794|P:negative regulation of cell volume|IMP; GO:1904172|P:positive regulation of bleb assembly|IMP; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA',NULL,NULL,NULL,NULL,NULL),(140864,'Experimental MF/BP Leaf Term GOA',NULL,18315,NULL,'GO:0045032|F:ADP-activated adenosine receptor activity|IMP; GO:0005524|F:ATP binding|IMP',NULL,NULL,NULL,NULL,NULL),(140865,'Experimental MF/BP Leaf Term GOA',NULL,18318,NULL,'GO:0001621|F:ADP receptor activity|IDA; GO:0045029|F:UDP-activated nucleotide receptor activity|IDA; GO:0045030|F:UTP-activated nucleotide receptor activity|IDA; GO:1905835|P:cellular response to pyrimidine ribonucleotide|IDA; GO:0032962|P:positive regulation of inositol trisphosphate biosynthetic process|IDA; GO:1904707|P:positive regulation of vascular smooth muscle cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(140866,'Experimental MF/BP Leaf Term GOA',NULL,18320,NULL,'GO:0005524|F:ATP binding|IDA; GO:0051087|F:chaperone binding|IPI; GO:0097718|F:disordered domain specific binding|IPI; GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0035035|F:histone acetyltransferase binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:0002039|F:p53 binding|IPI; GO:1990841|F:promoter-specific chromatin binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0051721|F:protein phosphatase 2A binding|IPI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI; GO:0001094|F:TFIID-class transcription factor complex binding|IPI; GO:0001074|F:transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding involved in preinitiation complex assembly|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0072717|P:cellular response to actinomycin D|IDA; GO:0071480|P:cellular response to gamma radiation|IDA; GO:0071456|P:cellular response to hypoxia|IEP; GO:0006977|P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|IMP; GO:0006978|P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IDA; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IDA; GO:0031571|P:mitotic G1 DNA damage checkpoint|IMP; GO:0097252|P:oligodendrocyte apoptotic process|IDA; GO:0090403|P:oxidative stress-induced premature senescence|IMP; GO:1902895|P:positive regulation of pri-miRNA transcription by RNA polymerase II|IDA; GO:0090200|P:positive regulation of release of cytochrome c from mitochondria|IDA; GO:0045899|P:positive regulation of RNA polymerase II transcriptional preinitiation complex assembly|IDA; GO:0051289|P:protein homotetramerization|IMP; GO:0090399|P:replicative senescence|IMP',NULL,NULL,NULL,NULL,NULL),(140867,'Experimental MF/BP Leaf Term GOA',NULL,18321,NULL,'GO:0097371|F:MDM2/MDM4 family protein binding|IPI; GO:0002039|F:p53 binding|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0042771|P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator|IDA; GO:0060044|P:negative regulation of cardiac muscle cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(140868,'Experimental MF/BP Leaf Term GOA',NULL,18323,NULL,'GO:1905793|P:protein localization to pericentriolar material|IMP',NULL,NULL,NULL,NULL,NULL),(140869,'Experimental MF/BP Leaf Term GOA',NULL,18324,NULL,'GO:0071157|P:negative regulation of cell cycle arrest|IDA',NULL,NULL,NULL,NULL,NULL),(140870,'Experimental MF/BP Leaf Term GOA',NULL,18331,NULL,'GO:0004735|F:pyrroline-5-carboxylate reductase activity|IDA; GO:0055129|P:L-proline biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140871,'Experimental MF/BP Leaf Term GOA',NULL,18332,NULL,'GO:0043125|F:ErbB-3 class receptor binding|IDA; GO:0043559|F:insulin binding|IDA; GO:0005158|F:insulin receptor binding|IPI; GO:0005159|F:insulin-like growth factor receptor binding|IPI; GO:0005168|F:neurotrophin TRKA receptor binding|IPI; GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0048009|P:insulin-like growth factor receptor signaling pathway|IDA; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IDA; GO:0042307|P:positive regulation of protein import into nucleus|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(140872,'Experimental MF/BP Leaf Term GOA',NULL,18333,NULL,'GO:0097371|F:MDM2/MDM4 family protein binding|IPI; GO:0002039|F:p53 binding|IPI; GO:0050699|F:WW domain binding|IPI; GO:2000773|P:negative regulation of cellular senescence|IMP; GO:2000271|P:positive regulation of fibroblast apoptotic process|IDA; GO:0051289|P:protein homotetramerization|IPI',NULL,NULL,NULL,NULL,NULL),(140873,'Experimental MF/BP Leaf Term GOA',NULL,18336,NULL,'GO:0004735|F:pyrroline-5-carboxylate reductase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140874,'Experimental MF/BP Leaf Term GOA',NULL,18338,NULL,'GO:0097320|P:plasma membrane tubulation|IDA',NULL,NULL,NULL,NULL,NULL),(140875,'Experimental MF/BP Leaf Term GOA',NULL,18339,NULL,'GO:0070300|F:phosphatidic acid binding|IDA; GO:0070836|P:caveola assembly|IMP; GO:0097320|P:plasma membrane tubulation|IDA',NULL,NULL,NULL,NULL,NULL),(140876,'Experimental MF/BP Leaf Term GOA',NULL,18342,NULL,'GO:1902491|P:negative regulation of sperm capacitation|IMP; GO:2000667|P:positive regulation of interleukin-13 secretion|IDA; GO:2000778|P:positive regulation of interleukin-6 secretion|IDA',NULL,NULL,NULL,NULL,NULL),(140877,'Experimental MF/BP Leaf Term GOA',NULL,18344,NULL,'GO:0030331|F:estrogen receptor binding|IDA; GO:0033148|P:positive regulation of intracellular estrogen receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140878,'Experimental MF/BP Leaf Term GOA',NULL,18350,NULL,'GO:0051491|P:positive regulation of filopodium assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140879,'Experimental MF/BP Leaf Term GOA',NULL,18353,NULL,'GO:0005049|F:nuclear export signal receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140880,'Experimental MF/BP Leaf Term GOA',NULL,18361,NULL,'GO:0042169|F:SH2 domain binding|IDA; GO:0046966|F:thyroid hormone receptor binding|IPI; GO:0007098|P:centrosome cycle|IMP; GO:0007100|P:mitotic centrosome separation|IMP; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:1904781|P:positive regulation of protein localization to centrosome|IMP',NULL,NULL,NULL,NULL,NULL),(140881,'Experimental MF/BP Leaf Term GOA',NULL,18364,NULL,'GO:0017056|F:structural constituent of nuclear pore|IMP; GO:0090521|P:glomerular visceral epithelial cell migration|IMP; GO:0060391|P:positive regulation of SMAD protein signal transduction|IDA; GO:0060395|P:SMAD protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(140882,'Experimental MF/BP Leaf Term GOA',NULL,18365,NULL,'GO:1990841|F:promoter-specific chromatin binding|IMP; GO:0017056|F:structural constituent of nuclear pore|IMP',NULL,NULL,NULL,NULL,NULL),(140883,'Experimental MF/BP Leaf Term GOA',NULL,18367,NULL,'GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0016262|F:protein N-acetylglucosaminyltransferase activity|IDA; GO:0097363|F:protein O-GlcNAc transferase activity|IMP; GO:0080182|P:histone H3-K4 trimethylation|IMP; GO:0043984|P:histone H4-K16 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(140884,'Experimental MF/BP Leaf Term GOA',NULL,18373,NULL,'GO:1901612|F:cardiolipin binding|IDA; GO:0070300|F:phosphatidic acid binding|IDA; GO:0090201|P:negative regulation of release of cytochrome c from mitochondria|IMP',NULL,NULL,NULL,NULL,NULL),(140885,'Experimental MF/BP Leaf Term GOA',NULL,18378,NULL,'GO:0021707|P:cerebellar granule cell differentiation|IMP; GO:0099149|P:regulation of postsynaptic neurotransmitter receptor internalization|IDA',NULL,NULL,NULL,NULL,NULL),(140886,'Experimental MF/BP Leaf Term GOA',NULL,18380,NULL,'GO:0005502|F:11-cis retinal binding|IDA; GO:0008020|F:G protein-coupled photoreceptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140887,'Experimental MF/BP Leaf Term GOA',NULL,18384,NULL,'GO:0007080|P:mitotic metaphase plate congression|IDA',NULL,NULL,NULL,NULL,NULL),(140888,'Experimental MF/BP Leaf Term GOA',NULL,18385,NULL,'GO:0038046|F:enkephalin receptor activity|IMP; GO:0071456|P:cellular response to hypoxia|IDA; GO:0000060|P:protein import into nucleus, translocation|IDA',NULL,NULL,NULL,NULL,NULL),(140889,'Experimental MF/BP Leaf Term GOA',NULL,18386,NULL,'GO:0038048|F:dynorphin receptor activity|IDA; GO:0031635|P:adenylate cyclase-inhibiting opioid receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(140890,'Experimental MF/BP Leaf Term GOA',NULL,18387,NULL,'GO:0001626|F:nociceptin receptor activity|IDA; GO:0051482|P:positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway|IPI',NULL,NULL,NULL,NULL,NULL),(140891,'Experimental MF/BP Leaf Term GOA',NULL,18473,NULL,'GO:0003688|F:DNA replication origin binding|IMP',NULL,NULL,NULL,NULL,NULL),(140892,'Experimental MF/BP Leaf Term GOA',NULL,18474,NULL,'GO:0000210|F:NAD+ diphosphatase activity|IDA; GO:0035529|F:NADH pyrophosphatase activity|IDA; GO:0019677|P:NAD catabolic process|IDA; GO:0006742|P:NADP catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140893,'Experimental MF/BP Leaf Term GOA',NULL,18475,NULL,'GO:0044547|F:DNA topoisomerase binding|IPI; GO:0048027|F:mRNA 5\'-UTR binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:1901838|P:positive regulation of transcription of nucleolar large rRNA by RNA polymerase I|IMP',NULL,NULL,NULL,NULL,NULL),(140894,'Experimental MF/BP Leaf Term GOA',NULL,18477,NULL,'GO:0047631|F:ADP-ribose diphosphatase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140895,'Experimental MF/BP Leaf Term GOA',NULL,18485,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0001786|F:phosphatidylserine binding|IDA',NULL,NULL,NULL,NULL,NULL),(140896,'Experimental MF/BP Leaf Term GOA',NULL,18487,NULL,'GO:0032782|P:bile acid secretion|IPI',NULL,NULL,NULL,NULL,NULL),(140897,'Experimental MF/BP Leaf Term GOA',NULL,18488,NULL,'GO:1903860|P:negative regulation of dendrite extension|IMP',NULL,NULL,NULL,NULL,NULL),(140898,'Experimental MF/BP Leaf Term GOA',NULL,18496,NULL,'GO:0061578|F:Lys63-specific deubiquitinase activity|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:2000660|P:negative regulation of interleukin-1-mediated signaling pathway|IDA; GO:1901537|P:positive regulation of DNA demethylation|IDA; GO:0071108|P:protein K48-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140899,'Experimental MF/BP Leaf Term GOA',NULL,18498,NULL,'GO:0050648|F:5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|IDA; GO:0050647|F:5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|IDA; GO:0050646|F:5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|IDA',NULL,NULL,NULL,NULL,NULL),(140900,'Experimental MF/BP Leaf Term GOA',NULL,18499,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140901,'Experimental MF/BP Leaf Term GOA',NULL,18500,NULL,'GO:0071949|F:FAD binding|IDA; GO:0055130|P:D-alanine catabolic process|IDA; GO:0036088|P:D-serine catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140902,'Experimental MF/BP Leaf Term GOA',NULL,18501,NULL,'GO:0010997|F:anaphase-promoting complex binding|IPI; GO:0051717|F:inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|IDA; GO:0030165|F:PDZ domain binding|IPI; GO:0016314|F:phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|IDA; GO:0051800|F:phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|IDA; GO:0004438|F:phosphatidylinositol-3-phosphatase activity|IDA; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0071257|P:cellular response to electrical stimulus|IMP; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IMP; GO:0051895|P:negative regulation of focal adhesion assembly|IMP; GO:0051548|P:negative regulation of keratinocyte migration|IMP; GO:0051898|P:negative regulation of protein kinase B signaling|IMP; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IMP; GO:1903690|P:negative regulation of wound healing, spreading of epidermal cells|IMP; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA; GO:1903984|P:positive regulation of TRAIL-activated apoptotic signaling pathway|IMP; GO:1904668|P:positive regulation of ubiquitin protein ligase activity|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(140903,'Experimental MF/BP Leaf Term GOA',NULL,18514,NULL,'GO:0004931|F:extracellularly ATP-gated cation channel activity|IDA; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(140904,'Experimental MF/BP Leaf Term GOA',NULL,18529,NULL,'GO:0004979|F:beta-endorphin receptor activity|IMP; GO:0001965|F:G-protein alpha-subunit binding|IDA; GO:0048149|P:behavioral response to ethanol|IMP; GO:0045019|P:negative regulation of nitric oxide biosynthetic process|IDA; GO:0061358|P:negative regulation of Wnt protein secretion|IMP; GO:0045429|P:positive regulation of nitric oxide biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140905,'Experimental MF/BP Leaf Term GOA',NULL,18628,NULL,'GO:1904153|P:negative regulation of retrograde protein transport, ER to cytosol|IMP; GO:0006621|P:protein retention in ER lumen|IDA',NULL,NULL,NULL,NULL,NULL),(140906,'Experimental MF/BP Leaf Term GOA',NULL,18629,NULL,'GO:0015485|F:cholesterol binding|IDA',NULL,NULL,NULL,NULL,NULL),(140907,'Experimental MF/BP Leaf Term GOA',NULL,18630,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0001786|F:phosphatidylserine binding|IDA',NULL,NULL,NULL,NULL,NULL),(140908,'Experimental MF/BP Leaf Term GOA',NULL,18631,NULL,'GO:0010890|P:positive regulation of sequestering of triglyceride|IMP',NULL,NULL,NULL,NULL,NULL),(140909,'Experimental MF/BP Leaf Term GOA',NULL,18632,NULL,'GO:0038165|P:oncostatin-M-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140910,'Experimental MF/BP Leaf Term GOA',NULL,18634,NULL,'GO:0015485|F:cholesterol binding|IDA',NULL,NULL,NULL,NULL,NULL),(140911,'Experimental MF/BP Leaf Term GOA',NULL,18635,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0001786|F:phosphatidylserine binding|IDA; GO:0010891|P:negative regulation of sequestering of triglyceride|IDA',NULL,NULL,NULL,NULL,NULL),(140912,'Experimental MF/BP Leaf Term GOA',NULL,18636,NULL,'GO:0031532|P:actin cytoskeleton reorganization|IDA; GO:0090630|P:activation of GTPase activity|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IDA',NULL,NULL,NULL,NULL,NULL),(140913,'Experimental MF/BP Leaf Term GOA',NULL,18638,NULL,'GO:0006710|P:androgen catabolic process|IDA; GO:0071394|P:cellular response to testosterone stimulus|IDA; GO:2000866|P:positive regulation of estradiol secretion|IDA',NULL,NULL,NULL,NULL,NULL),(140914,'Experimental MF/BP Leaf Term GOA',NULL,18644,NULL,'GO:0097108|F:hedgehog family protein binding|IPI; GO:0005119|F:smoothened binding|IPI',NULL,NULL,NULL,NULL,NULL),(140915,'Experimental MF/BP Leaf Term GOA',NULL,18645,NULL,'GO:0019784|F:NEDD8-specific protease activity|IDA; GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:1901315|P:negative regulation of histone H2A K63-linked ubiquitination|IDA; GO:0071108|P:protein K48-linked deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140916,'Experimental MF/BP Leaf Term GOA',NULL,18647,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0051898|P:negative regulation of protein kinase B signaling|IDA; GO:0035871|P:protein K11-linked deubiquitination|IDA; GO:1990167|P:protein K27-linked deubiquitination|IDA; GO:0071108|P:protein K48-linked deubiquitination|IDA; GO:0044313|P:protein K6-linked deubiquitination|IDA; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(140917,'Experimental MF/BP Leaf Term GOA',NULL,18649,NULL,'GO:0097177|F:mitochondrial ribosome binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0033615|P:mitochondrial proton-transporting ATP synthase complex assembly|IMP; GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140918,'Experimental MF/BP Leaf Term GOA',NULL,18650,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0070431|P:nucleotide-binding oligomerization domain containing 2 signaling pathway|IMP; GO:1990108|P:protein linear deubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(140919,'Experimental MF/BP Leaf Term GOA',NULL,18652,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:1990869|P:cellular response to chemokine|IMP; GO:0010820|P:positive regulation of T cell chemotaxis|IMP',NULL,NULL,NULL,NULL,NULL),(140920,'Experimental MF/BP Leaf Term GOA',NULL,18653,NULL,'GO:0016018|F:cyclosporin A binding|IDA; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA; GO:0008143|F:poly(A) binding|IDA',NULL,NULL,NULL,NULL,NULL),(140921,'Experimental MF/BP Leaf Term GOA',NULL,18654,NULL,'GO:0016018|F:cyclosporin A binding|IDA; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140922,'Experimental MF/BP Leaf Term GOA',NULL,18656,NULL,'GO:0008486|F:diphosphoinositol-polyphosphate diphosphatase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0071544|P:diphosphoinositol polyphosphate catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(140923,'Experimental MF/BP Leaf Term GOA',NULL,18660,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140924,'Experimental MF/BP Leaf Term GOA',NULL,18661,NULL,'GO:0004315|F:3-oxoacyl-[acyl-carrier-protein] synthase activity|IDA; GO:0051792|P:medium-chain fatty acid biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140925,'Experimental MF/BP Leaf Term GOA',NULL,18672,NULL,'GO:0021549|P:cerebellum development|IMP; GO:0031016|P:pancreas development|IMP',NULL,NULL,NULL,NULL,NULL),(140926,'Experimental MF/BP Leaf Term GOA',NULL,18674,NULL,'GO:0045031|F:ATP-activated adenosine receptor activity|IDA; GO:0023041|P:neuronal signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(140927,'Experimental MF/BP Leaf Term GOA',NULL,18678,NULL,'GO:0001784|F:phosphotyrosine residue binding|IPI; GO:0014065|P:phosphatidylinositol 3-kinase signaling|IDA',NULL,NULL,NULL,NULL,NULL),(140928,'Experimental MF/BP Leaf Term GOA',NULL,18679,NULL,'GO:0047498|F:calcium-dependent phospholipase A2 activity|IDA',NULL,NULL,NULL,NULL,NULL),(140929,'Experimental MF/BP Leaf Term GOA',NULL,18680,NULL,'GO:0030331|F:estrogen receptor binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0004668|F:protein-arginine deiminase activity|IDA; GO:0048096|P:chromatin-mediated maintenance of transcription|IMP; GO:0036413|P:histone H3-R26 citrullination|IDA; GO:0030520|P:intracellular estrogen receptor signaling pathway|IMP; GO:0010848|P:regulation of chromatin disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(140930,'Experimental MF/BP Leaf Term GOA',NULL,18681,NULL,'GO:0004668|F:protein-arginine deiminase activity|IMP',NULL,NULL,NULL,NULL,NULL),(140931,'Experimental MF/BP Leaf Term GOA',NULL,18682,NULL,'GO:0000045|P:autophagosome assembly|IDA; GO:0034497|P:protein localization to phagophore assembly site|IDA',NULL,NULL,NULL,NULL,NULL),(140932,'Experimental MF/BP Leaf Term GOA',NULL,18683,NULL,'GO:0016973|P:poly(A)+ mRNA export from nucleus|IMP',NULL,NULL,NULL,NULL,NULL),(140933,'Experimental MF/BP Leaf Term GOA',NULL,18684,NULL,'GO:0003847|F:1-alkyl-2-acetylglycerophosphocholine esterase activity|IDA; GO:0047499|F:calcium-independent phospholipase A2 activity|IDA; GO:0034374|P:low-density lipoprotein particle remodeling|IDA; GO:0034441|P:plasma lipoprotein particle oxidation|IDA; GO:0090026|P:positive regulation of monocyte chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(140934,'Experimental MF/BP Leaf Term GOA',NULL,18705,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140935,'Experimental MF/BP Leaf Term GOA',NULL,18709,NULL,'GO:0070682|P:proteasome regulatory particle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140936,'Experimental MF/BP Leaf Term GOA',NULL,18712,NULL,'GO:0061133|F:endopeptidase activator activity|IDA; GO:0097371|F:MDM2/MDM4 family protein binding|IDA; GO:0002039|F:p53 binding|IDA',NULL,NULL,NULL,NULL,NULL),(140937,'Experimental MF/BP Leaf Term GOA',NULL,18714,NULL,'GO:0070628|F:proteasome binding|IDA; GO:0046982|F:protein heterodimerization activity|IPI; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140938,'Experimental MF/BP Leaf Term GOA',NULL,18762,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0071397|P:cellular response to cholesterol|IMP',NULL,NULL,NULL,NULL,NULL),(140939,'Experimental MF/BP Leaf Term GOA',NULL,18765,NULL,'GO:0034115|P:negative regulation of heterotypic cell-cell adhesion|IDA; GO:0090038|P:negative regulation of protein kinase C signaling|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP',NULL,NULL,NULL,NULL,NULL),(140940,'Experimental MF/BP Leaf Term GOA',NULL,18768,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140941,'Experimental MF/BP Leaf Term GOA',NULL,18770,NULL,'GO:0003309|P:type B pancreatic cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(140942,'Experimental MF/BP Leaf Term GOA',NULL,18771,NULL,'GO:0004687|F:myosin light chain kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140943,'Experimental MF/BP Leaf Term GOA',NULL,18778,NULL,'GO:0005524|F:ATP binding|IDA; GO:0046404|F:ATP-dependent polydeoxyribonucleotide 5\'-hydroxyl-kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140944,'Experimental MF/BP Leaf Term GOA',NULL,18779,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140945,'Experimental MF/BP Leaf Term GOA',NULL,18780,NULL,'GO:0031433|F:telethonin binding|IPI',NULL,NULL,NULL,NULL,NULL),(140946,'Experimental MF/BP Leaf Term GOA',NULL,18784,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IDA; GO:0031894|F:V1A vasopressin receptor binding|IPI; GO:0070371|P:ERK1 and ERK2 cascade|IDA; GO:0090201|P:negative regulation of release of cytochrome c from mitochondria|IDA; GO:0070528|P:protein kinase C signaling|IDA',NULL,NULL,NULL,NULL,NULL),(140947,'Experimental MF/BP Leaf Term GOA',NULL,18785,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140948,'Experimental MF/BP Leaf Term GOA',NULL,18787,NULL,'GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(140949,'Experimental MF/BP Leaf Term GOA',NULL,18788,NULL,'GO:0033693|P:neurofilament bundle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(140950,'Experimental MF/BP Leaf Term GOA',NULL,18789,NULL,'GO:0030165|F:PDZ domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(140951,'Experimental MF/BP Leaf Term GOA',NULL,18791,NULL,'GO:0005525|F:GTP binding|IDA; GO:0005229|F:intracellular calcium activated chloride channel activity|IDA; GO:0042924|F:neuromedin U binding|IDA; GO:0001607|F:neuromedin U receptor activity|IDA; GO:0043006|P:activation of phospholipase A2 activity by calcium-mediated signaling|IDA; GO:0050482|P:arachidonic acid secretion|IDA; GO:0007417|P:central nervous system development|IEP',NULL,NULL,NULL,NULL,NULL),(140952,'Experimental MF/BP Leaf Term GOA',NULL,18792,NULL,'GO:0016594|F:glycine binding|IDA; GO:0004972|F:NMDA glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140953,'Experimental MF/BP Leaf Term GOA',NULL,18793,NULL,'GO:0016595|F:glutamate binding|IDA; GO:0022849|F:glutamate-gated calcium ion channel activity|IDA; GO:0016594|F:glycine binding|IDA; GO:0004972|F:NMDA glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140954,'Experimental MF/BP Leaf Term GOA',NULL,18794,NULL,'GO:0050700|F:CARD domain binding|IPI; GO:0030544|F:Hsp70 protein binding|IPI; GO:0051879|F:Hsp90 protein binding|IDA; GO:0032500|F:muramyl dipeptide binding|IDA; GO:0042834|F:peptidoglycan binding|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0071225|P:cellular response to muramyl dipeptide|IDA; GO:0002374|P:cytokine secretion involved in immune response|IMP; GO:0032498|P:detection of muramyl dipeptide|IDA; GO:0070431|P:nucleotide-binding oligomerization domain containing 2 signaling pathway|IDA; GO:1900017|P:positive regulation of cytokine production involved in inflammatory response|IDA; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA',NULL,NULL,NULL,NULL,NULL),(140955,'Experimental MF/BP Leaf Term GOA',NULL,18796,NULL,'GO:0004379|F:glycylpeptide N-tetradecanoyltransferase activity|IDA; GO:0018008|P:N-terminal peptidyl-glycine N-myristoylation|IDA',NULL,NULL,NULL,NULL,NULL),(140956,'Experimental MF/BP Leaf Term GOA',NULL,18802,NULL,'GO:1990699|F:palmitoleyl hydrolase activity|IDA; GO:1990697|P:protein depalmitoleylation|IDA',NULL,NULL,NULL,NULL,NULL),(140957,'Experimental MF/BP Leaf Term GOA',NULL,18803,NULL,'GO:0004517|F:nitric-oxide synthase activity|IDA; GO:0072604|P:interleukin-6 secretion|IDA; GO:0072606|P:interleukin-8 secretion|IDA; GO:0006809|P:nitric oxide biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(140958,'Experimental MF/BP Leaf Term GOA',NULL,18805,NULL,'GO:0051879|F:Hsp90 protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(140959,'Experimental MF/BP Leaf Term GOA',NULL,18813,NULL,'GO:0050115|F:myosin-light-chain-phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140960,'Experimental MF/BP Leaf Term GOA',NULL,18819,NULL,'GO:0017056|F:structural constituent of nuclear pore|IDA; GO:0000060|P:protein import into nucleus, translocation|IMP',NULL,NULL,NULL,NULL,NULL),(140961,'Experimental MF/BP Leaf Term GOA',NULL,18820,NULL,'GO:0016492|F:G protein-coupled neurotensin receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140962,'Experimental MF/BP Leaf Term GOA',NULL,18821,NULL,'GO:0046982|F:protein heterodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(140963,'Experimental MF/BP Leaf Term GOA',NULL,18822,NULL,'GO:0060175|F:brain-derived neurotrophic factor-activated receptor activity|IMP; GO:0031547|P:brain-derived neurotrophic factor receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(140964,'Experimental MF/BP Leaf Term GOA',NULL,18823,NULL,'GO:0017056|F:structural constituent of nuclear pore|IDA; GO:0008585|P:female gonad development|IMP',NULL,NULL,NULL,NULL,NULL),(140965,'Experimental MF/BP Leaf Term GOA',NULL,18824,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0033192|F:calmodulin-dependent protein phosphatase activity|IDA; GO:0030346|F:protein phosphatase 2B binding|IDA; GO:0033173|P:calcineurin-NFAT signaling cascade|IDA; GO:0035176|P:social behavior|IEP',NULL,NULL,NULL,NULL,NULL),(140966,'Experimental MF/BP Leaf Term GOA',NULL,18825,NULL,'GO:0033192|F:calmodulin-dependent protein phosphatase activity|IDA; GO:0033173|P:calcineurin-NFAT signaling cascade|IDA',NULL,NULL,NULL,NULL,NULL),(140967,'Experimental MF/BP Leaf Term GOA',NULL,18826,NULL,'GO:0017056|F:structural constituent of nuclear pore|IDA',NULL,NULL,NULL,NULL,NULL),(140968,'Experimental MF/BP Leaf Term GOA',NULL,18829,NULL,'GO:0034597|F:phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity|IDA; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(140969,'Experimental MF/BP Leaf Term GOA',NULL,18838,NULL,'GO:0008199|F:ferric iron binding|IDA; GO:0008198|F:ferrous iron binding|IDA',NULL,NULL,NULL,NULL,NULL),(140970,'Experimental MF/BP Leaf Term GOA',NULL,18839,NULL,'GO:0052642|F:lysophosphatidic acid phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140971,'Experimental MF/BP Leaf Term GOA',NULL,18842,NULL,'GO:0005049|F:nuclear export signal receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140972,'Experimental MF/BP Leaf Term GOA',NULL,18843,NULL,'GO:0052642|F:lysophosphatidic acid phosphatase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0060168|P:positive regulation of adenosine receptor signaling pathway|IMP; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(140973,'Experimental MF/BP Leaf Term GOA',NULL,18844,NULL,'GO:0004879|F:nuclear receptor activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI; GO:0031624|F:ubiquitin conjugating enzyme binding|IPI; GO:0010887|P:negative regulation of cholesterol storage|IDA; GO:0010745|P:negative regulation of macrophage derived foam cell differentiation|IDA; GO:1902894|P:negative regulation of pri-miRNA transcription by RNA polymerase II|IDA; GO:0010891|P:negative regulation of sequestering of triglyceride|IDA; GO:0072363|P:regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(140974,'Experimental MF/BP Leaf Term GOA',NULL,18845,NULL,'GO:0070539|F:linoleic acid binding|IDA; GO:0004879|F:nuclear receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(140975,'Experimental MF/BP Leaf Term GOA',NULL,18847,NULL,'GO:0008768|F:UDP-sugar diphosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140976,'Experimental MF/BP Leaf Term GOA',NULL,18861,NULL,'GO:0001824|P:blastocyst development|IMP; GO:0007338|P:single fertilization|IMP',NULL,NULL,NULL,NULL,NULL),(140977,'Experimental MF/BP Leaf Term GOA',NULL,18864,NULL,'GO:0003214|P:cardiac left ventricle morphogenesis|IMP; GO:0003151|P:outflow tract morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(140978,'Experimental MF/BP Leaf Term GOA',NULL,18865,NULL,'GO:0031404|F:chloride ion binding|IDA; GO:0001512|F:dihydronicotinamide riboside quinone reductase activity|IDA; GO:0071949|F:FAD binding|IDA; GO:1904408|F:melatonin binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:1905594|F:resveratrol binding|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(140979,'Experimental MF/BP Leaf Term GOA',NULL,18869,NULL,'GO:0043522|F:leucine zipper domain binding|IPI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(140980,'Experimental MF/BP Leaf Term GOA',NULL,18871,NULL,'GO:0005096|F:GTPase activator activity|IMP; GO:0038085|F:vascular endothelial growth factor binding|IPI; GO:0031532|P:actin cytoskeleton reorganization|IMP; GO:0035729|P:cellular response to hepatocyte growth factor stimulus|IMP; GO:0048012|P:hepatocyte growth factor receptor signaling pathway|IMP; GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:2000251|P:positive regulation of actin cytoskeleton reorganization|IMP; GO:0051491|P:positive regulation of filopodium assembly|IMP; GO:0051894|P:positive regulation of focal adhesion assembly|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IMP; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IMP; GO:0032489|P:regulation of Cdc42 protein signal transduction|IMP; GO:0034446|P:substrate adhesion-dependent cell spreading|IMP; GO:0006930|P:substrate-dependent cell migration, cell extension|IMP',NULL,NULL,NULL,NULL,NULL),(140981,'Experimental MF/BP Leaf Term GOA',NULL,18872,NULL,'GO:0035176|P:social behavior|IMP; GO:0042297|P:vocal learning|IMP',NULL,NULL,NULL,NULL,NULL),(140982,'Experimental MF/BP Leaf Term GOA',NULL,18883,NULL,'GO:0009383|F:rRNA (cytosine-C5-)-methyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(140983,'Experimental MF/BP Leaf Term GOA',NULL,18884,NULL,'GO:0016428|F:tRNA (cytosine-5-)-methyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140984,'Experimental MF/BP Leaf Term GOA',NULL,18886,NULL,'GO:0005112|F:Notch binding|IPI; GO:0021987|P:cerebral cortex development|IDA',NULL,NULL,NULL,NULL,NULL),(140985,'Experimental MF/BP Leaf Term GOA',NULL,18887,NULL,'GO:0005112|F:Notch binding|IPI; GO:0021987|P:cerebral cortex development|IDA',NULL,NULL,NULL,NULL,NULL),(140986,'Experimental MF/BP Leaf Term GOA',NULL,18888,NULL,'GO:0021987|P:cerebral cortex development|IDA',NULL,NULL,NULL,NULL,NULL),(140987,'Experimental MF/BP Leaf Term GOA',NULL,18894,NULL,'GO:0010667|P:negative regulation of cardiac muscle cell apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(140988,'Experimental MF/BP Leaf Term GOA',NULL,18896,NULL,'GO:0140078|F:class I DNA-(apurinic or apyrimidinic site) endonuclease activity|IDA; GO:0006296|P:nucleotide-excision repair, DNA incision, 5\'-to lesion|IDA',NULL,NULL,NULL,NULL,NULL),(140989,'Experimental MF/BP Leaf Term GOA',NULL,18897,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0090630|P:activation of GTPase activity|IDA; GO:0032148|P:activation of protein kinase B activity|IDA; GO:0050930|P:induction of positive chemotaxis|IDA; GO:2000251|P:positive regulation of actin cytoskeleton reorganization|IDA',NULL,NULL,NULL,NULL,NULL),(140990,'Experimental MF/BP Leaf Term GOA',NULL,18902,NULL,'GO:0048406|F:nerve growth factor binding|IDA; GO:0010465|F:nerve growth factor receptor activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0038180|P:nerve growth factor signaling pathway|IMP; GO:0048011|P:neurotrophin TRK receptor signaling pathway|IDA; GO:0038083|P:peptidyl-tyrosine autophosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(140991,'Experimental MF/BP Leaf Term GOA',NULL,18904,NULL,'GO:0004035|F:alkaline phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(140992,'Experimental MF/BP Leaf Term GOA',NULL,18908,NULL,'GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA',NULL,NULL,NULL,NULL,NULL),(140993,'Experimental MF/BP Leaf Term GOA',NULL,18910,NULL,'GO:0031698|F:beta-2 adrenergic receptor binding|IPI; GO:0008013|F:beta-catenin binding|IPI; GO:0030165|F:PDZ domain binding|IPI; GO:0051683|P:establishment of Golgi localization|IMP; GO:0030033|P:microvillus assembly|IMP; GO:0070373|P:negative regulation of ERK1 and ERK2 cascade|IDA; GO:0051898|P:negative regulation of protein kinase B signaling|IMP; GO:0097291|P:renal phosphate ion absorption|IMP',NULL,NULL,NULL,NULL,NULL),(140994,'Experimental MF/BP Leaf Term GOA',NULL,18911,NULL,'GO:0008013|F:beta-catenin binding|IPI; GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(140995,'Experimental MF/BP Leaf Term GOA',NULL,18913,NULL,'GO:0007420|P:brain development|IMP; GO:0030900|P:forebrain development|IEP; GO:0021759|P:globus pallidus development|IMP; GO:0030878|P:thyroid gland development|IMP',NULL,NULL,NULL,NULL,NULL),(140996,'Experimental MF/BP Leaf Term GOA',NULL,18914,NULL,'GO:0030165|F:PDZ domain binding|IDA; GO:0097110|F:scaffold protein binding|IDA; GO:0061002|P:negative regulation of dendritic spine morphogenesis|IGI',NULL,NULL,NULL,NULL,NULL),(140997,'Experimental MF/BP Leaf Term GOA',NULL,18915,NULL,'GO:0097110|F:scaffold protein binding|IPI; GO:0035176|P:social behavior|IMP',NULL,NULL,NULL,NULL,NULL),(140998,'Experimental MF/BP Leaf Term GOA',NULL,18916,NULL,'GO:0022849|F:glutamate-gated calcium ion channel activity|IDA',NULL,NULL,NULL,NULL,NULL),(140999,'Experimental MF/BP Leaf Term GOA',NULL,18917,NULL,'GO:0022849|F:glutamate-gated calcium ion channel activity|IDA; GO:0016594|F:glycine binding|IDA; GO:0004972|F:NMDA glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(141000,'Experimental MF/BP Leaf Term GOA',NULL,18922,NULL,'GO:0089720|F:caspase binding|IPI; GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IDA; GO:1990001|P:inhibition of cysteine-type endopeptidase activity involved in apoptotic process|IDA; GO:0090201|P:negative regulation of release of cytochrome c from mitochondria|IDA; GO:0014808|P:release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|IDA',NULL,NULL,NULL,NULL,NULL),(141001,'Experimental MF/BP Leaf Term GOA',NULL,18926,NULL,'GO:1902570|P:protein localization to nucleolus|IMP',NULL,NULL,NULL,NULL,NULL),(141002,'Experimental MF/BP Leaf Term GOA',NULL,18927,NULL,'GO:0034513|F:box H/ACA snoRNA binding|IPI; GO:0070034|F:telomerase RNA binding|IPI; GO:0007004|P:telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(141003,'Experimental MF/BP Leaf Term GOA',NULL,18929,NULL,'GO:1901838|P:positive regulation of transcription of nucleolar large rRNA by RNA polymerase I|IMP',NULL,NULL,NULL,NULL,NULL),(141004,'Experimental MF/BP Leaf Term GOA',NULL,18934,NULL,'GO:0050681|F:androgen receptor binding|IDA; GO:0046975|F:histone methyltransferase activity (H3-K36 specific)|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(141005,'Experimental MF/BP Leaf Term GOA',NULL,18939,NULL,'GO:0072711|P:cellular response to hydroxyurea|IMP',NULL,NULL,NULL,NULL,NULL),(141006,'Experimental MF/BP Leaf Term GOA',NULL,18940,NULL,'GO:0050290|F:sphingomyelin phosphodiesterase D activity|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IDA; GO:0006685|P:sphingomyelin catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141007,'Experimental MF/BP Leaf Term GOA',NULL,18942,NULL,'GO:0035255|F:ionotropic glutamate receptor binding|IPI; GO:0030165|F:PDZ domain binding|IPI; GO:0001921|P:positive regulation of receptor recycling|IDA',NULL,NULL,NULL,NULL,NULL),(141008,'Experimental MF/BP Leaf Term GOA',NULL,18945,NULL,'GO:1902309|P:negative regulation of peptidyl-serine dephosphorylation|IMP; GO:1903589|P:positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(141009,'Experimental MF/BP Leaf Term GOA',NULL,18948,NULL,'GO:0008418|F:protein-N-terminal asparagine amidohydrolase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141010,'Experimental MF/BP Leaf Term GOA',NULL,18950,NULL,'GO:0071885|F:N-terminal protein N-methyltransferase activity|IDA; GO:0018013|P:N-terminal peptidyl-glycine methylation|IDA; GO:0035572|P:N-terminal peptidyl-serine dimethylation|IDA; GO:0035573|P:N-terminal peptidyl-serine trimethylation|IDA',NULL,NULL,NULL,NULL,NULL),(141011,'Experimental MF/BP Leaf Term GOA',NULL,18951,NULL,'GO:0099560|P:synaptic membrane adhesion|IGI',NULL,NULL,NULL,NULL,NULL),(141012,'Experimental MF/BP Leaf Term GOA',NULL,18960,NULL,'GO:0002039|F:p53 binding|IPI; GO:0090630|P:activation of GTPase activity|IDA; GO:0032148|P:activation of protein kinase B activity|IDA; GO:2000251|P:positive regulation of actin cytoskeleton reorganization|IDA',NULL,NULL,NULL,NULL,NULL),(141013,'Experimental MF/BP Leaf Term GOA',NULL,18961,NULL,'GO:0005516|F:calmodulin binding|IDA; GO:0033192|F:calmodulin-dependent protein phosphatase activity|IDA; GO:0016018|F:cyclosporin A binding|IDA; GO:0033173|P:calcineurin-NFAT signaling cascade|IDA',NULL,NULL,NULL,NULL,NULL),(141014,'Experimental MF/BP Leaf Term GOA',NULL,18962,NULL,'GO:0017056|F:structural constituent of nuclear pore|IDA',NULL,NULL,NULL,NULL,NULL),(141015,'Experimental MF/BP Leaf Term GOA',NULL,18964,NULL,'GO:0017056|F:structural constituent of nuclear pore|IDA',NULL,NULL,NULL,NULL,NULL),(141016,'Experimental MF/BP Leaf Term GOA',NULL,18965,NULL,'GO:0090521|P:glomerular visceral epithelial cell migration|IMP',NULL,NULL,NULL,NULL,NULL),(141017,'Experimental MF/BP Leaf Term GOA',NULL,18966,NULL,'GO:0034597|F:phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity|IDA; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141018,'Experimental MF/BP Leaf Term GOA',NULL,18967,NULL,'GO:0004632|F:phosphopantothenate--cysteine ligase activity|IDA; GO:0015937|P:coenzyme A biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(141019,'Experimental MF/BP Leaf Term GOA',NULL,18968,NULL,'GO:0031210|F:phosphatidylcholine binding|IDA',NULL,NULL,NULL,NULL,NULL),(141020,'Experimental MF/BP Leaf Term GOA',NULL,18969,NULL,'GO:0030544|F:Hsp70 protein binding|IDA; GO:0051879|F:Hsp90 protein binding|IDA; GO:0031435|F:mitogen-activated protein kinase kinase kinase binding|IPI; GO:0010801|P:negative regulation of peptidyl-threonine phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141021,'Experimental MF/BP Leaf Term GOA',NULL,18974,NULL,'GO:0034450|F:ubiquitin-ubiquitin ligase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141022,'Experimental MF/BP Leaf Term GOA',NULL,18991,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0005147|F:oncostatin-M receptor binding|IPI; GO:0038165|P:oncostatin-M-mediated signaling pathway|IDA; GO:1905078|P:positive regulation of interleukin-17 secretion|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IGI; GO:0051897|P:positive regulation of protein kinase B signaling|IGI; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(141023,'Experimental MF/BP Leaf Term GOA',NULL,18996,NULL,'GO:0042500|F:aspartic endopeptidase activity, intramembrane cleaving|IDA; GO:0008013|F:beta-catenin binding|IPI; GO:0030165|F:PDZ domain binding|IPI; GO:0034205|P:amyloid-beta formation|IMP; GO:0002265|P:astrocyte activation involved in immune response|IGI; GO:1904646|P:cellular response to amyloid-beta|IGI; GO:0090647|P:modulation of age-related behavioral decline|IGI; GO:1904797|P:negative regulation of core promoter binding|IMP; GO:1990535|P:neuron projection maintenance|IGI; GO:1905908|P:positive regulation of amyloid fibril formation|IGI; GO:0033160|P:positive regulation of protein import into nucleus, translocation|IMP',NULL,NULL,NULL,NULL,NULL),(141024,'Experimental MF/BP Leaf Term GOA',NULL,19001,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141025,'Experimental MF/BP Leaf Term GOA',NULL,19002,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141026,'Experimental MF/BP Leaf Term GOA',NULL,19003,NULL,'GO:0019003|F:GDP binding|IMP; GO:0004550|F:nucleoside diphosphate kinase activity|IDA; GO:0007229|P:integrin-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(141027,'Experimental MF/BP Leaf Term GOA',NULL,19004,NULL,'GO:0042775|P:mitochondrial ATP synthesis coupled electron transport|IMP; GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141028,'Experimental MF/BP Leaf Term GOA',NULL,19005,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141029,'Experimental MF/BP Leaf Term GOA',NULL,19007,NULL,'GO:0006689|P:ganglioside catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141030,'Experimental MF/BP Leaf Term GOA',NULL,19008,NULL,'GO:0070888|F:E-box binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0090102|P:cochlea development|IGI; GO:0090103|P:cochlea morphogenesis|IGI; GO:1905748|P:hard palate morphogenesis|IGI; GO:0098583|P:learned vocalization behavior|IGI; GO:0071626|P:mastication|IGI; GO:1905747|P:negative regulation of saliva secretion|IGI; GO:0050885|P:neuromuscular process controlling balance|IGI; GO:0007356|P:thorax and anterior abdomen determination|IGI; GO:0021559|P:trigeminal nerve development|IGI; GO:0021650|P:vestibulocochlear nerve formation|IGI',NULL,NULL,NULL,NULL,NULL),(141031,'Experimental MF/BP Leaf Term GOA',NULL,19010,NULL,'GO:0099041|P:vesicle tethering to Golgi|IDA',NULL,NULL,NULL,NULL,NULL),(141032,'Experimental MF/BP Leaf Term GOA',NULL,19012,NULL,'GO:0030879|P:mammary gland development|IDA',NULL,NULL,NULL,NULL,NULL),(141033,'Experimental MF/BP Leaf Term GOA',NULL,19013,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0001094|F:TFIID-class transcription factor complex binding|IPI; GO:0048254|P:snoRNA localization|IMP',NULL,NULL,NULL,NULL,NULL),(141034,'Experimental MF/BP Leaf Term GOA',NULL,19015,NULL,'GO:0001682|P:tRNA 5\'-leader removal|IDA',NULL,NULL,NULL,NULL,NULL),(141035,'Experimental MF/BP Leaf Term GOA',NULL,19022,NULL,'GO:0004865|F:protein serine/threonine phosphatase inhibitor activity|IDA; GO:1905183|P:negative regulation of protein serine/threonine phosphatase activity|IDA; GO:1905184|P:positive regulation of protein serine/threonine phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141036,'Experimental MF/BP Leaf Term GOA',NULL,19023,NULL,'GO:0050692|F:DBD domain binding|IDA; GO:0050693|F:LBD domain binding|IDA; GO:0004879|F:nuclear receptor activity|IDA; GO:0008022|F:protein C-terminus binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0046965|F:retinoid X receptor binding|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0032869|P:cellular response to insulin stimulus|IMP; GO:0071404|P:cellular response to low-density lipoprotein particle stimulus|IDA; GO:0042953|P:lipoprotein transport|IDA; GO:0045713|P:low-density lipoprotein particle receptor biosynthetic process|IDA; GO:0010742|P:macrophage derived foam cell differentiation|IDA; GO:0030224|P:monocyte differentiation|IDA; GO:0010887|P:negative regulation of cholesterol storage|IDA; GO:0060336|P:negative regulation of interferon-gamma-mediated signaling pathway|IMP; GO:0010745|P:negative regulation of macrophage derived foam cell differentiation|IDA; GO:0010891|P:negative regulation of sequestering of triglyceride|IDA; GO:1905563|P:negative regulation of vascular endothelial cell proliferation|IMP; GO:1904706|P:negative regulation of vascular smooth muscle cell proliferation|IDA; GO:0035357|P:peroxisome proliferator activated receptor signaling pathway|IMP; GO:1905461|P:positive regulation of vascular associated smooth muscle cell apoptotic process|IMP; GO:0061614|P:pri-miRNA transcription by RNA polymerase II|IDA',NULL,NULL,NULL,NULL,NULL),(141037,'Experimental MF/BP Leaf Term GOA',NULL,19024,NULL,'GO:0120154|P:negative regulation of ERBB4 signaling pathway|IDA; GO:1990264|P:peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141038,'Experimental MF/BP Leaf Term GOA',NULL,19028,NULL,'GO:1904715|P:negative regulation of chaperone-mediated autophagy|IGI',NULL,NULL,NULL,NULL,NULL),(141039,'Experimental MF/BP Leaf Term GOA',NULL,19031,NULL,'GO:0016018|F:cyclosporin A binding|IDA; GO:0097718|F:disordered domain specific binding|IPI; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141040,'Experimental MF/BP Leaf Term GOA',NULL,19033,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0000492|P:box C/D snoRNP assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141041,'Experimental MF/BP Leaf Term GOA',NULL,19034,NULL,'GO:0071481|P:cellular response to X-ray|IMP; GO:1990968|P:modulation by host of RNA binding by virus|IMP; GO:1990969|P:modulation by host of viral RNA-binding transcription factor activity|IGI; GO:0044829|P:positive regulation by host of viral genome replication|IMP; GO:0043923|P:positive regulation by host of viral transcription|IGI',NULL,NULL,NULL,NULL,NULL),(141042,'Experimental MF/BP Leaf Term GOA',NULL,19037,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0034512|F:box C/D snoRNA binding|IDA; GO:0034511|F:U3 snoRNA binding|IDA; GO:0030621|F:U4 snRNA binding|IDA; GO:0030622|F:U4atac snRNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(141043,'Experimental MF/BP Leaf Term GOA',NULL,19038,NULL,'GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0045454|P:cell redox homeostasis|IMP; GO:0070301|P:cellular response to hydrogen peroxide|IMP; GO:0071356|P:cellular response to tumor necrosis factor|IMP; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IMP; GO:0061419|P:positive regulation of transcription from RNA polymerase II promoter in response to hypoxia|IMP; GO:0010499|P:proteasomal ubiquitin-independent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141044,'Experimental MF/BP Leaf Term GOA',NULL,19040,NULL,'GO:0034205|P:amyloid-beta formation|IMP',NULL,NULL,NULL,NULL,NULL),(141045,'Experimental MF/BP Leaf Term GOA',NULL,19044,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141046,'Experimental MF/BP Leaf Term GOA',NULL,19048,NULL,'GO:0016175|F:superoxide-generating NADPH oxidase activity|IMP; GO:1990451|P:cellular stress response to acidic pH|IDA; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IEP; GO:0042554|P:superoxide anion generation|IDA',NULL,NULL,NULL,NULL,NULL),(141047,'Experimental MF/BP Leaf Term GOA',NULL,19052,NULL,'GO:0003865|F:3-oxo-5-alpha-steroid 4-dehydrogenase activity|IDA; GO:0006488|P:dolichol-linked oligosaccharide biosynthetic process|IMP',NULL,NULL,NULL,NULL,NULL),(141048,'Experimental MF/BP Leaf Term GOA',NULL,19055,NULL,'GO:0030331|F:estrogen receptor binding|IPI; GO:0071392|P:cellular response to estradiol stimulus|IDA; GO:0032922|P:circadian regulation of gene expression|IMP',NULL,NULL,NULL,NULL,NULL),(141049,'Experimental MF/BP Leaf Term GOA',NULL,19060,NULL,'GO:0035176|P:social behavior|IMP; GO:0042297|P:vocal learning|IMP',NULL,NULL,NULL,NULL,NULL),(141050,'Experimental MF/BP Leaf Term GOA',NULL,19061,NULL,'GO:0035176|P:social behavior|IGI',NULL,NULL,NULL,NULL,NULL),(141051,'Experimental MF/BP Leaf Term GOA',NULL,19064,NULL,'GO:2001255|P:positive regulation of histone H3-K36 trimethylation|IMP',NULL,NULL,NULL,NULL,NULL),(141052,'Experimental MF/BP Leaf Term GOA',NULL,19065,NULL,'GO:1905773|F:8-hydroxy-2\'-deoxyguanosine DNA binding|IDA; GO:0017151|F:DEAD/H-box RNA helicase binding|IPI; GO:1990955|F:G-rich single-stranded DNA binding|IDA; GO:0098505|F:G-rich strand telomeric DNA binding|IDA; GO:0010521|F:telomerase inhibitor activity|IDA; GO:0061821|F:telomeric D-loop binding|IDA; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IGI; GO:0060383|P:positive regulation of DNA strand elongation|IDA; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IDA; GO:0016233|P:telomere capping|IMP; GO:0007004|P:telomere maintenance via telomerase|IDA; GO:0061820|P:telomeric D-loop disassembly|IGI',NULL,NULL,NULL,NULL,NULL),(141053,'Experimental MF/BP Leaf Term GOA',NULL,19071,NULL,'GO:1904780|P:negative regulation of protein localization to centrosome|IGI; GO:0046604|P:positive regulation of mitotic centrosome separation|IGI',NULL,NULL,NULL,NULL,NULL),(141054,'Experimental MF/BP Leaf Term GOA',NULL,19074,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IDA',NULL,NULL,NULL,NULL,NULL),(141055,'Experimental MF/BP Leaf Term GOA',NULL,19077,NULL,'GO:0016428|F:tRNA (cytosine-5-)-methyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141056,'Experimental MF/BP Leaf Term GOA',NULL,19079,NULL,'GO:0016428|F:tRNA (cytosine-5-)-methyltransferase activity|IDA; GO:0002127|P:tRNA wobble base cytosine methylation|IDA',NULL,NULL,NULL,NULL,NULL),(141057,'Experimental MF/BP Leaf Term GOA',NULL,19080,NULL,'GO:0098641|F:cadherin binding involved in cell-cell adhesion|IDA',NULL,NULL,NULL,NULL,NULL),(141058,'Experimental MF/BP Leaf Term GOA',NULL,19081,NULL,'GO:0042169|F:SH2 domain binding|IMP',NULL,NULL,NULL,NULL,NULL),(141059,'Experimental MF/BP Leaf Term GOA',NULL,19082,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141060,'Experimental MF/BP Leaf Term GOA',NULL,19085,NULL,'GO:0051539|F:4 iron, 4 sulfur cluster binding|IDA',NULL,NULL,NULL,NULL,NULL),(141061,'Experimental MF/BP Leaf Term GOA',NULL,19086,NULL,'GO:1990450|F:linear polyubiquitin binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(141062,'Experimental MF/BP Leaf Term GOA',NULL,19087,NULL,'GO:0031071|F:cysteine desulfurase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(141063,'Experimental MF/BP Leaf Term GOA',NULL,19088,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141064,'Experimental MF/BP Leaf Term GOA',NULL,19089,NULL,'GO:1903981|F:enterobactin binding|IDA',NULL,NULL,NULL,NULL,NULL),(141065,'Experimental MF/BP Leaf Term GOA',NULL,19090,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(141066,'Experimental MF/BP Leaf Term GOA',NULL,19096,NULL,'GO:0001682|P:tRNA 5\'-leader removal|IDA',NULL,NULL,NULL,NULL,NULL),(141067,'Experimental MF/BP Leaf Term GOA',NULL,19098,NULL,'GO:0005105|F:type 1 fibroblast growth factor receptor binding|IDA; GO:0010739|P:positive regulation of protein kinase A signaling|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:1900020|P:positive regulation of protein kinase C activity|IDA; GO:0035176|P:social behavior|IMP',NULL,NULL,NULL,NULL,NULL),(141068,'Experimental MF/BP Leaf Term GOA',NULL,19100,NULL,'GO:0016018|F:cyclosporin A binding|IDA; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141069,'Experimental MF/BP Leaf Term GOA',NULL,19105,NULL,'GO:0010867|P:positive regulation of triglyceride biosynthetic process|IGI',NULL,NULL,NULL,NULL,NULL),(141070,'Experimental MF/BP Leaf Term GOA',NULL,19106,NULL,'GO:0005096|F:GTPase activator activity|IDA; GO:0031210|F:phosphatidylcholine binding|IDA; GO:0008429|F:phosphatidylethanolamine binding|IDA',NULL,NULL,NULL,NULL,NULL),(141071,'Experimental MF/BP Leaf Term GOA',NULL,19107,NULL,'GO:0004867|F:serine-type endopeptidase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(141072,'Experimental MF/BP Leaf Term GOA',NULL,19111,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141073,'Experimental MF/BP Leaf Term GOA',NULL,19114,NULL,'GO:0016496|F:substance P receptor activity|IMP',NULL,NULL,NULL,NULL,NULL),(141074,'Experimental MF/BP Leaf Term GOA',NULL,19116,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(141075,'Experimental MF/BP Leaf Term GOA',NULL,19121,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0033344|P:cholesterol efflux|IDA; GO:0042632|P:cholesterol homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(141076,'Experimental MF/BP Leaf Term GOA',NULL,19123,NULL,'GO:0051001|P:negative regulation of nitric-oxide synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141077,'Experimental MF/BP Leaf Term GOA',NULL,19124,NULL,'GO:0071908|P:determination of intestine left/right asymmetry|IMP; GO:0071910|P:determination of liver left/right asymmetry|IMP; GO:0035469|P:determination of pancreatic left/right asymmetry|IMP; GO:0071909|P:determination of stomach left/right asymmetry|IMP; GO:0001947|P:heart looping|IMP; GO:0045494|P:photoreceptor cell maintenance|IMP; GO:0072189|P:ureter development|IMP',NULL,NULL,NULL,NULL,NULL),(141078,'Experimental MF/BP Leaf Term GOA',NULL,19125,NULL,'GO:0039536|P:negative regulation of RIG-I signaling pathway|IMP; GO:0030970|P:retrograde protein transport, ER to cytosol|IMP',NULL,NULL,NULL,NULL,NULL),(141079,'Experimental MF/BP Leaf Term GOA',NULL,19128,NULL,'GO:0015321|F:sodium-dependent phosphate transmembrane transporter activity|IDA; GO:0030643|P:cellular phosphate ion homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(141080,'Experimental MF/BP Leaf Term GOA',NULL,19129,NULL,'GO:0001602|F:pancreatic polypeptide receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(141081,'Experimental MF/BP Leaf Term GOA',NULL,19132,NULL,'GO:0019732|P:antifungal humoral response|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0021987|P:cerebral cortex development|IEP; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(141082,'Experimental MF/BP Leaf Term GOA',NULL,19133,NULL,'GO:0017056|F:structural constituent of nuclear pore|IMP',NULL,NULL,NULL,NULL,NULL),(141083,'Experimental MF/BP Leaf Term GOA',NULL,19135,NULL,'GO:0008486|F:diphosphoinositol-polyphosphate diphosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141084,'Experimental MF/BP Leaf Term GOA',NULL,19136,NULL,'GO:0031404|F:chloride ion binding|IDA; GO:0050897|F:cobalt ion binding|IDA; GO:0097383|F:dIDP diphosphatase activity|EXP; GO:0005525|F:GTP binding|IDA; GO:1990003|F:IDP phosphatase activity|EXP; GO:1901641|F:ITP binding|IDA; GO:0050072|F:m7G(5\')pppN diphosphatase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0030145|F:manganese ion binding|IDA; GO:1990174|F:phosphodiesterase decapping endonuclease activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:1901640|F:XTP binding|IDA; GO:0046709|P:IDP catabolic process|IDA; GO:1901639|P:XDP catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141085,'Experimental MF/BP Leaf Term GOA',NULL,19137,NULL,'GO:0044715|F:8-oxo-dGDP phosphatase activity|IDA; GO:0047631|F:ADP-ribose diphosphatase activity|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:1990966|P:ATP generation from poly-ADP-D-ribose|IDA; GO:0019303|P:D-ribose catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141086,'Experimental MF/BP Leaf Term GOA',NULL,19139,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IGI; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:1902894|P:negative regulation of pri-miRNA transcription by RNA polymerase II|IGI',NULL,NULL,NULL,NULL,NULL),(141087,'Experimental MF/BP Leaf Term GOA',NULL,19141,NULL,'GO:0043125|F:ErbB-3 class receptor binding|IDA; GO:0008083|F:growth factor activity|IDA; GO:0032148|P:activation of protein kinase B activity|IMP; GO:0007171|P:activation of transmembrane receptor protein tyrosine kinase activity|IDA; GO:0060379|P:cardiac muscle cell myoblast differentiation|IDA; GO:0060956|P:endocardial cell differentiation|IDA; GO:0010667|P:negative regulation of cardiac muscle cell apoptotic process|IDA; GO:2001240|P:negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|IDA; GO:0060045|P:positive regulation of cardiac muscle cell proliferation|IDA; GO:1900086|P:positive regulation of peptidyl-tyrosine autophosphorylation|IDA; GO:0099149|P:regulation of postsynaptic neurotransmitter receptor internalization|IDA; GO:0043497|P:regulation of protein heterodimerization activity|IDA; GO:0099560|P:synaptic membrane adhesion|IDA; GO:0055012|P:ventricular cardiac muscle cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(141088,'Experimental MF/BP Leaf Term GOA',NULL,19153,NULL,'GO:0004035|F:alkaline phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141089,'Experimental MF/BP Leaf Term GOA',NULL,19157,NULL,'GO:0052794|F:exo-alpha-(2->3)-sialidase activity|IDA; GO:0051692|P:cellular oligosaccharide catabolic process|IDA; GO:0006689|P:ganglioside catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141090,'Experimental MF/BP Leaf Term GOA',NULL,19163,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0001042|F:RNA polymerase I core binding|IDA; GO:0014029|P:neural crest formation|IMP',NULL,NULL,NULL,NULL,NULL),(141091,'Experimental MF/BP Leaf Term GOA',NULL,19165,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141092,'Experimental MF/BP Leaf Term GOA',NULL,19167,NULL,'GO:0051059|F:NF-kappaB binding|IDA; GO:0046982|F:protein heterodimerization activity|IMP; GO:0042803|F:protein homodimerization activity|IDA; GO:0043023|F:ribosomal large subunit binding|IDA; GO:0043024|F:ribosomal small subunit binding|IDA; GO:0030957|F:Tat protein binding|IDA; GO:0051082|F:unfolded protein binding|IDA; GO:0007098|P:centrosome cycle|IMP; GO:0044387|P:negative regulation of protein kinase activity by regulation of protein phosphorylation|IDA; GO:0060735|P:regulation of eIF2 alpha phosphorylation by dsRNA|IDA; GO:1902629|P:regulation of mRNA stability involved in cellular response to UV|IMP',NULL,NULL,NULL,NULL,NULL),(141093,'Experimental MF/BP Leaf Term GOA',NULL,19175,NULL,'GO:0003151|P:outflow tract morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(141094,'Experimental MF/BP Leaf Term GOA',NULL,19179,NULL,'GO:0070267|P:oncosis|IDA',NULL,NULL,NULL,NULL,NULL),(141095,'Experimental MF/BP Leaf Term GOA',NULL,19180,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0000979|F:RNA polymerase II core promoter sequence-specific DNA binding|IDA',NULL,NULL,NULL,NULL,NULL),(141096,'Experimental MF/BP Leaf Term GOA',NULL,19184,NULL,'GO:0050262|F:ribosylnicotinamide kinase activity|EXP; GO:0061769|F:ribosylnicotinate kinase activity|EXP',NULL,NULL,NULL,NULL,NULL),(141097,'Experimental MF/BP Leaf Term GOA',NULL,19185,NULL,'GO:0050262|F:ribosylnicotinamide kinase activity|EXP; GO:0061769|F:ribosylnicotinate kinase activity|EXP',NULL,NULL,NULL,NULL,NULL),(141098,'Experimental MF/BP Leaf Term GOA',NULL,19186,NULL,'GO:0071307|P:cellular response to vitamin K|IDA',NULL,NULL,NULL,NULL,NULL),(141099,'Experimental MF/BP Leaf Term GOA',NULL,19187,NULL,'GO:0035176|P:social behavior|IGI',NULL,NULL,NULL,NULL,NULL),(141100,'Experimental MF/BP Leaf Term GOA',NULL,19189,NULL,'GO:0008013|F:beta-catenin binding|IDA; GO:0090521|P:glomerular visceral epithelial cell migration|IMP; GO:2000393|P:negative regulation of lamellipodium morphogenesis|IDA; GO:0035024|P:negative regulation of Rho protein signal transduction|IMP; GO:1900028|P:negative regulation of ruffle assembly|IDA; GO:1900025|P:negative regulation of substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(141101,'Experimental MF/BP Leaf Term GOA',NULL,19192,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(141102,'Experimental MF/BP Leaf Term GOA',NULL,19193,NULL,'GO:0043984|P:histone H4-K16 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(141103,'Experimental MF/BP Leaf Term GOA',NULL,19196,NULL,'GO:0014029|P:neural crest formation|IMP',NULL,NULL,NULL,NULL,NULL),(141104,'Experimental MF/BP Leaf Term GOA',NULL,19208,NULL,'GO:0051835|P:positive regulation of synapse structural plasticity|IMP',NULL,NULL,NULL,NULL,NULL),(141105,'Experimental MF/BP Leaf Term GOA',NULL,19210,NULL,'GO:0005516|F:calmodulin binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0060996|P:dendritic spine development|IMP; GO:1990443|P:peptidyl-threonine autophosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(141106,'Experimental MF/BP Leaf Term GOA',NULL,19211,NULL,'GO:0005516|F:calmodulin binding|IPI; GO:0044325|F:ion channel binding|IPI; GO:0042803|F:protein homodimerization activity|IPI; GO:0019871|F:sodium channel inhibitor activity|IDA; GO:0031432|F:titin binding|IPI',NULL,NULL,NULL,NULL,NULL),(141107,'Experimental MF/BP Leaf Term GOA',NULL,19212,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(141108,'Experimental MF/BP Leaf Term GOA',NULL,19218,NULL,'GO:0097602|F:cullin family protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(141109,'Experimental MF/BP Leaf Term GOA',NULL,19222,NULL,'GO:0097602|F:cullin family protein binding|IDA; GO:0042826|F:histone deacetylase binding|IDA',NULL,NULL,NULL,NULL,NULL),(141110,'Experimental MF/BP Leaf Term GOA',NULL,19225,NULL,'GO:0044325|F:ion channel binding|IPI; GO:0045163|P:clustering of voltage-gated potassium channels|IDA; GO:1903766|P:positive regulation of potassium ion export across plasma membrane|IDA; GO:0097623|P:potassium ion export across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(141111,'Experimental MF/BP Leaf Term GOA',NULL,19228,NULL,'GO:0030506|F:ankyrin binding|IPI; GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(141112,'Experimental MF/BP Leaf Term GOA',NULL,19229,NULL,'GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(141113,'Experimental MF/BP Leaf Term GOA',NULL,19233,NULL,'GO:0005513|P:detection of calcium ion|IDA; GO:0019228|P:neuronal action potential|IDA',NULL,NULL,NULL,NULL,NULL),(141114,'Experimental MF/BP Leaf Term GOA',NULL,19240,NULL,'GO:0070089|F:chloride-activated potassium channel activity|IMP; GO:0097623|P:potassium ion export across plasma membrane|IMP',NULL,NULL,NULL,NULL,NULL),(141115,'Experimental MF/BP Leaf Term GOA',NULL,19248,NULL,'GO:0071949|F:FAD binding|IDA; GO:0034648|F:histone demethylase activity (H3-dimethyl-K4 specific)|IDA; GO:0034649|F:histone demethylase activity (H3-monomethyl-K4 specific)|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(141116,'Experimental MF/BP Leaf Term GOA',NULL,19253,NULL,'GO:0030165|F:PDZ domain binding|IDA; GO:0007080|P:mitotic metaphase plate congression|IMP; GO:0033624|P:negative regulation of integrin activation|IMP; GO:0032487|P:regulation of Rap protein signal transduction|IMP; GO:0031146|P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|IMP; GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(141117,'Experimental MF/BP Leaf Term GOA',NULL,19255,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(141118,'Experimental MF/BP Leaf Term GOA',NULL,19257,NULL,'GO:0008574|F:ATP-dependent microtubule motor activity, plus-end-directed|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0050699|F:WW domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(141119,'Experimental MF/BP Leaf Term GOA',NULL,19260,NULL,'GO:0005157|F:macrophage colony-stimulating factor receptor binding|IDA; GO:0045657|P:positive regulation of monocyte differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(141120,'Experimental MF/BP Leaf Term GOA',NULL,19261,NULL,'GO:0030889|P:negative regulation of B cell proliferation|IDA; GO:0002740|P:negative regulation of cytokine secretion involved in immune response|IDA; GO:0051045|P:negative regulation of membrane protein ectodomain proteolysis|IDA',NULL,NULL,NULL,NULL,NULL),(141121,'Experimental MF/BP Leaf Term GOA',NULL,19262,NULL,'GO:0042164|F:interleukin-12 alpha subunit binding|IPI; GO:0046982|F:protein heterodimerization activity|IPI; GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0042104|P:positive regulation of activated T cell proliferation|IDA; GO:0010536|P:positive regulation of activation of Janus kinase activity|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IDA; GO:0002860|P:positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|IDA; GO:0051142|P:positive regulation of NK T cell proliferation|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(141122,'Experimental MF/BP Leaf Term GOA',NULL,19264,NULL,'GO:0008009|F:chemokine activity|IDA; GO:0061844|P:antimicrobial humoral immune response mediated by antimicrobial peptide|IDA; GO:0044344|P:cellular response to fibroblast growth factor stimulus|IEP; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IEP; GO:0050930|P:induction of positive chemotaxis|IGI; GO:0030593|P:neutrophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(141123,'Experimental MF/BP Leaf Term GOA',NULL,19266,NULL,'GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0042104|P:positive regulation of activated T cell proliferation|IDA; GO:0010536|P:positive regulation of activation of Janus kinase activity|IDA; GO:0002230|P:positive regulation of defense response to virus by host|IDA; GO:0051142|P:positive regulation of NK T cell proliferation|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(141124,'Experimental MF/BP Leaf Term GOA',NULL,19267,NULL,'GO:0005516|F:calmodulin binding|IPI; GO:0070856|F:myosin VI light chain binding|IPI',NULL,NULL,NULL,NULL,NULL),(141125,'Experimental MF/BP Leaf Term GOA',NULL,19271,NULL,'GO:0097110|F:scaffold protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(141126,'Experimental MF/BP Leaf Term GOA',NULL,19272,NULL,'GO:0031069|P:hair follicle morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(141127,'Experimental MF/BP Leaf Term GOA',NULL,19276,NULL,'GO:0097110|F:scaffold protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(141128,'Experimental MF/BP Leaf Term GOA',NULL,19278,NULL,'GO:0046899|F:nucleoside triphosphate adenylate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141129,'Experimental MF/BP Leaf Term GOA',NULL,19279,NULL,'GO:0004017|F:adenylate kinase activity|IDA; GO:0004550|F:nucleoside diphosphate kinase activity|IDA; GO:0046899|F:nucleoside triphosphate adenylate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141130,'Experimental MF/BP Leaf Term GOA',NULL,19280,NULL,'GO:0004017|F:adenylate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141131,'Experimental MF/BP Leaf Term GOA',NULL,19281,NULL,'GO:0004017|F:adenylate kinase activity|IDA; GO:0004550|F:nucleoside diphosphate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141132,'Experimental MF/BP Leaf Term GOA',NULL,19282,NULL,'GO:0090521|P:glomerular visceral epithelial cell migration|IMP; GO:0033147|P:negative regulation of intracellular estrogen receptor signaling pathway|IDA; GO:0070563|P:negative regulation of vitamin D receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(141133,'Experimental MF/BP Leaf Term GOA',NULL,19284,NULL,'GO:0005251|F:delayed rectifier potassium channel activity|IDA; GO:0097110|F:scaffold protein binding|IPI; GO:0086089|F:voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization|IMP; GO:0086087|F:voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization|IMP; GO:0086090|F:voltage-gated potassium channel activity involved in SA node cell action potential repolarization|IMP; GO:0086014|P:atrial cardiac muscle cell action potential|IMP; GO:0060081|P:membrane hyperpolarization|IMP; GO:0098914|P:membrane repolarization during atrial cardiac muscle cell action potential|IMP; GO:0086050|P:membrane repolarization during bundle of His cell action potential|IMP; GO:0086052|P:membrane repolarization during SA node cell action potential|IMP; GO:0097623|P:potassium ion export across plasma membrane|IDA; GO:0086091|P:regulation of heart rate by cardiac conduction|IMP',NULL,NULL,NULL,NULL,NULL),(141134,'Experimental MF/BP Leaf Term GOA',NULL,19285,NULL,'GO:0060072|F:large conductance calcium-activated potassium channel activity|IDA; GO:0060073|P:micturition|IDA; GO:0045794|P:negative regulation of cell volume|IDA; GO:0060083|P:smooth muscle contraction involved in micturition|IDA',NULL,NULL,NULL,NULL,NULL),(141135,'Experimental MF/BP Leaf Term GOA',NULL,19286,NULL,'GO:0005513|P:detection of calcium ion|IDA; GO:0019228|P:neuronal action potential|IDA',NULL,NULL,NULL,NULL,NULL),(141136,'Experimental MF/BP Leaf Term GOA',NULL,19287,NULL,'GO:0005251|F:delayed rectifier potassium channel activity|IDA; GO:0044325|F:ion channel binding|IPI',NULL,NULL,NULL,NULL,NULL),(141137,'Experimental MF/BP Leaf Term GOA',NULL,19288,NULL,'GO:0005251|F:delayed rectifier potassium channel activity|IDA; GO:0097718|F:disordered domain specific binding|IPI',NULL,NULL,NULL,NULL,NULL),(141138,'Experimental MF/BP Leaf Term GOA',NULL,19290,NULL,'GO:0005516|F:calmodulin binding|IDA',NULL,NULL,NULL,NULL,NULL),(141139,'Experimental MF/BP Leaf Term GOA',NULL,19293,NULL,'GO:0005250|F:A-type (transient outward) potassium channel activity|IMP',NULL,NULL,NULL,NULL,NULL),(141140,'Experimental MF/BP Leaf Term GOA',NULL,19299,NULL,'GO:0043252|P:sodium-independent organic anion transport|IDA',NULL,NULL,NULL,NULL,NULL),(141141,'Experimental MF/BP Leaf Term GOA',NULL,19308,NULL,'GO:0050501|F:hyaluronan synthase activity|IDA; GO:0004415|F:hyalurononglucosaminidase activity|IDA; GO:0044344|P:cellular response to fibroblast growth factor stimulus|IDA; GO:0071347|P:cellular response to interleukin-1|IDA; GO:0036120|P:cellular response to platelet-derived growth factor stimulus|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IEP; GO:0071493|P:cellular response to UV-B|IDA; GO:0030213|P:hyaluronan biosynthetic process|IDA; GO:0030214|P:hyaluronan catabolic process|IDA; GO:1900106|P:positive regulation of hyaluranon cable assembly|IDA',NULL,NULL,NULL,NULL,NULL),(141142,'Experimental MF/BP Leaf Term GOA',NULL,19310,NULL,'GO:0005540|F:hyaluronic acid binding|IDA; GO:0033906|F:hyaluronoglucuronidase activity|IDA; GO:0004415|F:hyalurononglucosaminidase activity|IDA; GO:0030294|F:receptor signaling protein tyrosine kinase inhibitor activity|IDA; GO:0001618|F:virus receptor activity|IDA; GO:0044344|P:cellular response to fibroblast growth factor stimulus|IDA; GO:0071347|P:cellular response to interleukin-1|IDA; GO:0071560|P:cellular response to transforming growth factor beta stimulus|IDA; GO:0071356|P:cellular response to tumor necrosis factor|IEP; GO:0071493|P:cellular response to UV-B|IDA; GO:0030214|P:hyaluronan catabolic process|IDA; GO:0051898|P:negative regulation of protein kinase B signaling|IDA; GO:2000778|P:positive regulation of interleukin-6 secretion|IDA; GO:2000484|P:positive regulation of interleukin-8 secretion|IDA',NULL,NULL,NULL,NULL,NULL),(141143,'Experimental MF/BP Leaf Term GOA',NULL,19311,NULL,'GO:0019732|P:antifungal humoral response|IMP; GO:1902714|P:negative regulation of interferon-gamma secretion|IMP',NULL,NULL,NULL,NULL,NULL),(141144,'Experimental MF/BP Leaf Term GOA',NULL,19312,NULL,'GO:0033754|F:indoleamine 2,3-dioxygenase activity|IMP; GO:0004833|F:tryptophan 2,3-dioxygenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(141145,'Experimental MF/BP Leaf Term GOA',NULL,19316,NULL,'GO:0052658|F:inositol-1,4,5-trisphosphate 5-phosphatase activity|IDA; GO:0004439|F:phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|IDA; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141146,'Experimental MF/BP Leaf Term GOA',NULL,19318,NULL,'GO:0004452|F:isopentenyl-diphosphate delta-isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141147,'Experimental MF/BP Leaf Term GOA',NULL,19323,NULL,'GO:0005127|F:ciliary neurotrophic factor receptor binding|IPI; GO:0070120|P:ciliary neurotrophic factor-mediated signaling pathway|IDA; GO:0070106|P:interleukin-27-mediated signaling pathway|IMP; GO:0070102|P:interleukin-6-mediated signaling pathway|IMP; GO:0070104|P:negative regulation of interleukin-6-mediated signaling pathway|IDA; GO:0038165|P:oncostatin-M-mediated signaling pathway|IMP; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IMP',NULL,NULL,NULL,NULL,NULL),(141148,'Experimental MF/BP Leaf Term GOA',NULL,19324,NULL,'GO:0042007|F:interleukin-18 binding|IDA; GO:0035655|P:interleukin-18-mediated signaling pathway|IDA; GO:2000556|P:positive regulation of T-helper 1 cell cytokine production|IDA',NULL,NULL,NULL,NULL,NULL),(141149,'Experimental MF/BP Leaf Term GOA',NULL,19325,NULL,'GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(141150,'Experimental MF/BP Leaf Term GOA',NULL,19330,NULL,'GO:0071933|F:Arp2/3 complex binding|IDA; GO:0005516|F:calmodulin binding|IPI; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0034314|P:Arp2/3 complex-mediated actin nucleation|IDA; GO:0070493|P:thrombin-activated receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(141151,'Experimental MF/BP Leaf Term GOA',NULL,19331,NULL,'GO:0001205|F:distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA; GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IGI',NULL,NULL,NULL,NULL,NULL),(141152,'Experimental MF/BP Leaf Term GOA',NULL,19332,NULL,'GO:0090541|F:MIT domain binding|IPI; GO:0046745|P:viral capsid secondary envelopment|IDA',NULL,NULL,NULL,NULL,NULL),(141153,'Experimental MF/BP Leaf Term GOA',NULL,19333,NULL,'GO:0098639|F:collagen binding involved in cell-matrix adhesion|IMP; GO:0007229|P:integrin-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(141154,'Experimental MF/BP Leaf Term GOA',NULL,19334,NULL,'GO:0098639|F:collagen binding involved in cell-matrix adhesion|IMP; GO:0007229|P:integrin-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(141155,'Experimental MF/BP Leaf Term GOA',NULL,19335,NULL,'GO:0098639|F:collagen binding involved in cell-matrix adhesion|IMP; GO:0007229|P:integrin-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(141156,'Experimental MF/BP Leaf Term GOA',NULL,19336,NULL,'GO:0098639|F:collagen binding involved in cell-matrix adhesion|IMP; GO:0001968|F:fibronectin binding|IPI; GO:0046982|F:protein heterodimerization activity|IDA; GO:0007161|P:calcium-independent cell-matrix adhesion|IGI; GO:0033631|P:cell-cell adhesion mediated by integrin|IEP; GO:0007229|P:integrin-mediated signaling pathway|IMP; GO:0050901|P:leukocyte tethering or rolling|IMP; GO:2000811|P:negative regulation of anoikis|IMP; GO:0051897|P:positive regulation of protein kinase B signaling|IDA',NULL,NULL,NULL,NULL,NULL),(141157,'Experimental MF/BP Leaf Term GOA',NULL,19338,NULL,'GO:0035987|P:endodermal cell differentiation|IMP; GO:2000811|P:negative regulation of anoikis|IMP; GO:0035313|P:wound healing, spreading of epidermal cells|IEP',NULL,NULL,NULL,NULL,NULL),(141158,'Experimental MF/BP Leaf Term GOA',NULL,19339,NULL,'GO:0030369|F:ICAM-3 receptor activity|IMP; GO:0007157|P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules|IMP; GO:0002291|P:T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|IMP',NULL,NULL,NULL,NULL,NULL),(141159,'Experimental MF/BP Leaf Term GOA',NULL,19340,NULL,'GO:1990430|F:extracellular matrix protein binding|IDA; GO:0001968|F:fibronectin binding|IDA; GO:0038027|P:apolipoprotein A-I-mediated signaling pathway|IMP; GO:0043277|P:apoptotic cell clearance|IGI; GO:0035987|P:endodermal cell differentiation|IMP; GO:2000536|P:negative regulation of entry of bacterium into host cell|IDA; GO:0045715|P:negative regulation of low-density lipoprotein particle receptor biosynthetic process|IMP; GO:0010745|P:negative regulation of macrophage derived foam cell differentiation|IMP; GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(141160,'Experimental MF/BP Leaf Term GOA',NULL,19344,NULL,'GO:0016422|F:mRNA (2\'-O-methyladenosine-N6-)-methyltransferase activity|IDA; GO:0120048|F:U6 snRNA (adenine-(43)-N(6))-methyltransferase activity|IDA; GO:0030629|F:U6 snRNA 3\'-end binding|IDA; GO:0120049|P:snRNA (adenine-N6)-methylation|IDA',NULL,NULL,NULL,NULL,NULL),(141161,'Experimental MF/BP Leaf Term GOA',NULL,19354,NULL,'GO:0003094|P:glomerular filtration|IMP',NULL,NULL,NULL,NULL,NULL),(141162,'Experimental MF/BP Leaf Term GOA',NULL,19355,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0042109|P:lymphotoxin A biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(141163,'Experimental MF/BP Leaf Term GOA',NULL,19357,NULL,'GO:0032020|P:ISG15-protein conjugation|IDA',NULL,NULL,NULL,NULL,NULL),(141164,'Experimental MF/BP Leaf Term GOA',NULL,19360,NULL,'GO:0020037|F:heme binding|IDA; GO:0035401|F:histone kinase activity (H3-Y41 specific)|IDA; GO:0042169|F:SH2 domain binding|IPI; GO:0035409|P:histone H3-Y41 phosphorylation|IDA; GO:0035722|P:interleukin-12-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(141165,'Experimental MF/BP Leaf Term GOA',NULL,19363,NULL,'GO:0005078|F:MAP-kinase scaffold activity|IPI',NULL,NULL,NULL,NULL,NULL),(141166,'Experimental MF/BP Leaf Term GOA',NULL,19367,NULL,'GO:0008327|F:methyl-CpG binding|IDA',NULL,NULL,NULL,NULL,NULL),(141167,'Experimental MF/BP Leaf Term GOA',NULL,19369,NULL,'GO:0004862|F:cAMP-dependent protein kinase inhibitor activity|IDA; GO:0008603|F:cAMP-dependent protein kinase regulator activity|IDA; GO:0034236|F:protein kinase A catalytic subunit binding|IPI; GO:2000480|P:negative regulation of cAMP-dependent protein kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141168,'Experimental MF/BP Leaf Term GOA',NULL,19370,NULL,'GO:0004862|F:cAMP-dependent protein kinase inhibitor activity|IDA; GO:0008603|F:cAMP-dependent protein kinase regulator activity|IDA; GO:0034236|F:protein kinase A catalytic subunit binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:2000480|P:negative regulation of cAMP-dependent protein kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141169,'Experimental MF/BP Leaf Term GOA',NULL,19371,NULL,'GO:0043984|P:histone H4-K16 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(141170,'Experimental MF/BP Leaf Term GOA',NULL,19372,NULL,'GO:0043984|P:histone H4-K16 acetylation|IDA; GO:0043981|P:histone H4-K5 acetylation|IDA; GO:0043982|P:histone H4-K8 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(141171,'Experimental MF/BP Leaf Term GOA',NULL,19373,NULL,'GO:0004691|F:cAMP-dependent protein kinase activity|IDA; GO:0034237|F:protein kinase A regulatory subunit binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IDA; GO:0071333|P:cellular response to glucose stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(141172,'Experimental MF/BP Leaf Term GOA',NULL,19374,NULL,'GO:0071392|P:cellular response to estradiol stimulus|IDA; GO:0006978|P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|IDA',NULL,NULL,NULL,NULL,NULL),(141173,'Experimental MF/BP Leaf Term GOA',NULL,19375,NULL,'GO:0051864|F:histone demethylase activity (H3-K36 specific)|IMP; GO:0070544|P:histone H3-K36 demethylation|IMP',NULL,NULL,NULL,NULL,NULL),(141174,'Experimental MF/BP Leaf Term GOA',NULL,19376,NULL,'GO:0050681|F:androgen receptor binding|IDA; GO:0032454|F:histone demethylase activity (H3-K9 specific)|IMP; GO:0046293|P:formaldehyde biosynthetic process|IDA; GO:0033169|P:histone H3-K9 demethylation|IDA',NULL,NULL,NULL,NULL,NULL),(141175,'Experimental MF/BP Leaf Term GOA',NULL,19377,NULL,'GO:0051864|F:histone demethylase activity (H3-K36 specific)|IDA; GO:0032454|F:histone demethylase activity (H3-K9 specific)|IMP; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0008270|F:zinc ion binding|IDA; GO:0070544|P:histone H3-K36 demethylation|IDA; GO:0033169|P:histone H3-K9 demethylation|IMP',NULL,NULL,NULL,NULL,NULL),(141176,'Experimental MF/BP Leaf Term GOA',NULL,19378,NULL,'GO:0032454|F:histone demethylase activity (H3-K9 specific)|IDA; GO:0033169|P:histone H3-K9 demethylation|IDA; GO:2001034|P:positive regulation of double-strand break repair via nonhomologous end joining|IMP',NULL,NULL,NULL,NULL,NULL),(141177,'Experimental MF/BP Leaf Term GOA',NULL,19379,NULL,'GO:0032454|F:histone demethylase activity (H3-K9 specific)|IDA; GO:0033169|P:histone H3-K9 demethylation|IDA',NULL,NULL,NULL,NULL,NULL),(141178,'Experimental MF/BP Leaf Term GOA',NULL,19380,NULL,'GO:0034648|F:histone demethylase activity (H3-dimethyl-K4 specific)|IDA; GO:0034647|F:histone demethylase activity (H3-trimethyl-K4 specific)|IDA; GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(141179,'Experimental MF/BP Leaf Term GOA',NULL,19381,NULL,'GO:0090307|P:mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141180,'Experimental MF/BP Leaf Term GOA',NULL,19386,NULL,'GO:1900260|P:negative regulation of RNA-directed 5\'-3\' RNA polymerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141181,'Experimental MF/BP Leaf Term GOA',NULL,19387,NULL,'GO:0005524|F:ATP binding|IDA; GO:0008143|F:poly(A) binding|IDA; GO:0048701|P:embryonic cranial skeleton morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(141182,'Experimental MF/BP Leaf Term GOA',NULL,19389,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0071360|P:cellular response to exogenous dsRNA|IMP; GO:0039530|P:MDA-5 signaling pathway|IDA; GO:1902741|P:positive regulation of interferon-alpha secretion|IMP; GO:0035549|P:positive regulation of interferon-beta secretion|IMP; GO:2000778|P:positive regulation of interleukin-6 secretion|IMP; GO:1904469|P:positive regulation of tumor necrosis factor secretion|IMP',NULL,NULL,NULL,NULL,NULL),(141183,'Experimental MF/BP Leaf Term GOA',NULL,19392,NULL,'GO:0035735|P:intraciliary transport involved in cilium assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141184,'Experimental MF/BP Leaf Term GOA',NULL,19394,NULL,'GO:0031419|F:cobalamin binding|IDA; GO:0015889|P:cobalamin transport|IMP',NULL,NULL,NULL,NULL,NULL),(141185,'Experimental MF/BP Leaf Term GOA',NULL,19395,NULL,'GO:0034711|F:inhibin binding|IDA',NULL,NULL,NULL,NULL,NULL),(141186,'Experimental MF/BP Leaf Term GOA',NULL,19396,NULL,'GO:0032808|P:lacrimal gland development|IMP',NULL,NULL,NULL,NULL,NULL),(141187,'Experimental MF/BP Leaf Term GOA',NULL,19402,NULL,'GO:0045352|F:interleukin-1 type I receptor antagonist activity|IDA; GO:0045353|F:interleukin-1 type II receptor antagonist activity|IDA; GO:0005150|F:interleukin-1, type I receptor binding|IPI; GO:0005151|F:interleukin-1, type II receptor binding|IPI; GO:0034115|P:negative regulation of heterotypic cell-cell adhesion|IDA; GO:2000660|P:negative regulation of interleukin-1-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(141188,'Experimental MF/BP Leaf Term GOA',NULL,19405,NULL,'GO:0005134|F:interleukin-2 receptor binding|IDA; GO:0042104|P:positive regulation of activated T cell proliferation|IDA; GO:0030890|P:positive regulation of B cell proliferation|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(141189,'Experimental MF/BP Leaf Term GOA',NULL,19406,NULL,'GO:0008083|F:growth factor activity|IDA; GO:0005138|F:interleukin-6 receptor binding|IPI; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0002384|P:hepatic immune response|IDA; GO:0070102|P:interleukin-6-mediated signaling pathway|IDA; GO:0032966|P:negative regulation of collagen biosynthetic process|IDA; GO:0001781|P:neutrophil apoptotic process|IDA; GO:0051024|P:positive regulation of immunoglobulin secretion|IDA; GO:0042531|P:positive regulation of tyrosine phosphorylation of STAT protein|IDA',NULL,NULL,NULL,NULL,NULL),(141190,'Experimental MF/BP Leaf Term GOA',NULL,19407,NULL,'GO:0008310|F:single-stranded DNA 3\'-5\' exodeoxyribonuclease activity|IDA; GO:0030619|F:U1 snRNA binding|IDA; GO:0030620|F:U2 snRNA binding|IDA; GO:0034511|F:U3 snoRNA binding|IDA; GO:0000738|P:DNA catabolic process, exonucleolytic|IDA',NULL,NULL,NULL,NULL,NULL),(141191,'Experimental MF/BP Leaf Term GOA',NULL,19408,NULL,'GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0003139|P:secondary heart field specification|IMP',NULL,NULL,NULL,NULL,NULL),(141192,'Experimental MF/BP Leaf Term GOA',NULL,19410,NULL,'GO:0070412|F:R-SMAD binding|IPI; GO:0000403|F:Y-form DNA binding|IDA; GO:0002076|P:osteoblast development|IGI; GO:0030511|P:positive regulation of transforming growth factor beta receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(141193,'Experimental MF/BP Leaf Term GOA',NULL,19413,NULL,'GO:0008327|F:methyl-CpG binding|IDA',NULL,NULL,NULL,NULL,NULL),(141194,'Experimental MF/BP Leaf Term GOA',NULL,19414,NULL,'GO:0098639|F:collagen binding involved in cell-matrix adhesion|IMP',NULL,NULL,NULL,NULL,NULL),(141195,'Experimental MF/BP Leaf Term GOA',NULL,19416,NULL,'GO:0010499|P:proteasomal ubiquitin-independent protein catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141196,'Experimental MF/BP Leaf Term GOA',NULL,19419,NULL,'GO:0004454|F:ketohexokinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141197,'Experimental MF/BP Leaf Term GOA',NULL,19421,NULL,'GO:0002769|P:natural killer cell inhibitory signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(141198,'Experimental MF/BP Leaf Term GOA',NULL,19425,NULL,'GO:0008574|F:ATP-dependent microtubule motor activity, plus-end-directed|IDA; GO:0005547|F:phosphatidylinositol-3,4,5-trisphosphate binding|IDA; GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0080025|F:phosphatidylinositol-3,5-bisphosphate binding|IDA; GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0045022|P:early endosome to late endosome transport|IMP',NULL,NULL,NULL,NULL,NULL),(141199,'Experimental MF/BP Leaf Term GOA',NULL,19427,NULL,'GO:0051256|P:mitotic spindle midzone assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141200,'Experimental MF/BP Leaf Term GOA',NULL,19429,NULL,'GO:0090307|P:mitotic spindle assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141201,'Experimental MF/BP Leaf Term GOA',NULL,19435,NULL,'GO:0017134|F:fibroblast growth factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(141202,'Experimental MF/BP Leaf Term GOA',NULL,19436,NULL,'GO:0017134|F:fibroblast growth factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(141203,'Experimental MF/BP Leaf Term GOA',NULL,19437,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0070684|P:seminal clot liquefaction|IDA',NULL,NULL,NULL,NULL,NULL),(141204,'Experimental MF/BP Leaf Term GOA',NULL,19438,NULL,'GO:0097186|P:amelogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(141205,'Experimental MF/BP Leaf Term GOA',NULL,19439,NULL,'GO:0032425|P:positive regulation of mismatch repair|IDA',NULL,NULL,NULL,NULL,NULL),(141206,'Experimental MF/BP Leaf Term GOA',NULL,19440,NULL,'GO:0035403|F:histone kinase activity (H3-T6 specific)|IDA; GO:0002159|P:desmosome assembly|IMP; GO:0035408|P:histone H3-T6 phosphorylation|IDA; GO:0031666|P:positive regulation of lipopolysaccharide-mediated signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(141207,'Experimental MF/BP Leaf Term GOA',NULL,19451,NULL,'GO:0042633|P:hair cycle|IDA',NULL,NULL,NULL,NULL,NULL),(141208,'Experimental MF/BP Leaf Term GOA',NULL,19457,NULL,'GO:0042543|P:protein N-linked glycosylation via arginine|IMP',NULL,NULL,NULL,NULL,NULL),(141209,'Experimental MF/BP Leaf Term GOA',NULL,19460,NULL,'GO:0001085|F:RNA polymerase II transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(141210,'Experimental MF/BP Leaf Term GOA',NULL,19461,NULL,'GO:0016807|F:cysteine-type carboxypeptidase activity|IDA; GO:0036435|F:K48-linked polyubiquitin modification-dependent protein binding|IDA; GO:1990380|F:Lys48-specific deubiquitinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141211,'Experimental MF/BP Leaf Term GOA',NULL,19462,NULL,'GO:0008199|F:ferric iron binding|IDA; GO:0050113|F:inositol oxygenase activity|IDA; GO:0019310|P:inositol catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141212,'Experimental MF/BP Leaf Term GOA',NULL,19463,NULL,'GO:0015250|F:water channel activity|IDA; GO:1990349|P:gap junction-mediated intercellular transport|IDA; GO:0051289|P:protein homotetramerization|IDA',NULL,NULL,NULL,NULL,NULL),(141213,'Experimental MF/BP Leaf Term GOA',NULL,19465,NULL,'GO:0097345|P:mitochondrial outer membrane permeabilization|IMP',NULL,NULL,NULL,NULL,NULL),(141214,'Experimental MF/BP Leaf Term GOA',NULL,19466,NULL,'GO:0042803|F:protein homodimerization activity|IMP; GO:0061952|P:midbody abscission|IMP',NULL,NULL,NULL,NULL,NULL),(141215,'Experimental MF/BP Leaf Term GOA',NULL,19467,NULL,'GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(141216,'Experimental MF/BP Leaf Term GOA',NULL,19468,NULL,'GO:0071276|P:cellular response to cadmium ion|IMP; GO:1903351|P:cellular response to dopamine|IMP; GO:0070371|P:ERK1 and ERK2 cascade|IDA; GO:0010800|P:positive regulation of peptidyl-threonine phosphorylation|IDA; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(141217,'Experimental MF/BP Leaf Term GOA',NULL,19469,NULL,'GO:0071276|P:cellular response to cadmium ion|IMP; GO:1903351|P:cellular response to dopamine|IMP; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0006975|P:DNA damage induced protein phosphorylation|IDA; GO:0070498|P:interleukin-1-mediated signaling pathway|IMP; GO:0038083|P:peptidyl-tyrosine autophosphorylation|IDA; GO:0033129|P:positive regulation of histone phosphorylation|IMP; GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(141218,'Experimental MF/BP Leaf Term GOA',NULL,19474,NULL,'GO:0034417|F:bisphosphoglycerate 3-phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141219,'Experimental MF/BP Leaf Term GOA',NULL,19478,NULL,'GO:0004798|F:thymidylate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141220,'Experimental MF/BP Leaf Term GOA',NULL,19481,NULL,'GO:0004705|F:JUN kinase activity|IDA; GO:0071276|P:cellular response to cadmium ion|IMP; GO:0007254|P:JNK cascade|IDA; GO:0010744|P:positive regulation of macrophage derived foam cell differentiation|IMP',NULL,NULL,NULL,NULL,NULL),(141221,'Experimental MF/BP Leaf Term GOA',NULL,19482,NULL,'GO:0071347|P:cellular response to interleukin-1|IDA; GO:2001184|P:positive regulation of interleukin-12 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(141222,'Experimental MF/BP Leaf Term GOA',NULL,19484,NULL,'GO:0072740|P:cellular response to anisomycin|IDA; GO:0070301|P:cellular response to hydrogen peroxide|IDA; GO:0071347|P:cellular response to interleukin-1|IDA; GO:1903936|P:cellular response to sodium arsenite|IDA; GO:0072709|P:cellular response to sorbitol|IDA',NULL,NULL,NULL,NULL,NULL),(141223,'Experimental MF/BP Leaf Term GOA',NULL,19485,NULL,'GO:0048273|F:mitogen-activated protein kinase p38 binding|IPI; GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0071223|P:cellular response to lipoteichoic acid|IMP; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IMP; GO:2001184|P:positive regulation of interleukin-12 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(141224,'Experimental MF/BP Leaf Term GOA',NULL,19487,NULL,'GO:0001968|F:fibronectin binding|IDA; GO:0008083|F:growth factor activity|IDA; GO:0043237|F:laminin-1 binding|IDA; GO:0033173|P:calcineurin-NFAT signaling cascade|IDA; GO:0070886|P:positive regulation of calcineurin-NFAT signaling cascade|IDA; GO:0060054|P:positive regulation of epithelial cell proliferation involved in wound healing|IDA; GO:0070075|P:tear secretion|IDA',NULL,NULL,NULL,NULL,NULL),(141225,'Experimental MF/BP Leaf Term GOA',NULL,19490,NULL,'GO:0035987|P:endodermal cell differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(141226,'Experimental MF/BP Leaf Term GOA',NULL,19494,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0035987|P:endodermal cell differentiation|IEP',NULL,NULL,NULL,NULL,NULL),(141227,'Experimental MF/BP Leaf Term GOA',NULL,19500,NULL,'GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(141228,'Experimental MF/BP Leaf Term GOA',NULL,19501,NULL,'GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(141229,'Experimental MF/BP Leaf Term GOA',NULL,19505,NULL,'GO:0022617|P:extracellular matrix disassembly|IMP; GO:0031581|P:hemidesmosome assembly|IMP; GO:0034446|P:substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(141230,'Experimental MF/BP Leaf Term GOA',NULL,19510,NULL,'GO:0005070|F:SH3/SH2 adaptor activity|IDA; GO:0007229|P:integrin-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(141231,'Experimental MF/BP Leaf Term GOA',NULL,19512,NULL,'GO:0050852|P:T cell receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(141232,'Experimental MF/BP Leaf Term GOA',NULL,19521,NULL,'GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IDA; GO:0030948|P:negative regulation of vascular endothelial growth factor receptor signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(141233,'Experimental MF/BP Leaf Term GOA',NULL,19523,NULL,'GO:0004459|F:L-lactate dehydrogenase activity|EXP',NULL,NULL,NULL,NULL,NULL),(141234,'Experimental MF/BP Leaf Term GOA',NULL,19527,NULL,'GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(141235,'Experimental MF/BP Leaf Term GOA',NULL,19533,NULL,'GO:1904262|P:negative regulation of TORC1 signaling|IMP',NULL,NULL,NULL,NULL,NULL),(141236,'Experimental MF/BP Leaf Term GOA',NULL,19535,NULL,'GO:0032212|P:positive regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(141237,'Experimental MF/BP Leaf Term GOA',NULL,19547,NULL,'GO:0043027|F:cysteine-type endopeptidase inhibitor activity involved in apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(141238,'Experimental MF/BP Leaf Term GOA',NULL,19549,NULL,'GO:0005524|F:ATP binding|IDA; GO:0043988|P:histone H3-S28 phosphorylation|IMP; GO:0070498|P:interleukin-1-mediated signaling pathway|IMP; GO:0033129|P:positive regulation of histone phosphorylation|IMP',NULL,NULL,NULL,NULL,NULL),(141239,'Experimental MF/BP Leaf Term GOA',NULL,19550,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0070273|F:phosphatidylinositol-4-phosphate binding|IDA; GO:0010314|F:phosphatidylinositol-5-phosphate binding|IDA; GO:0009789|P:positive regulation of abscisic acid-activated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(141240,'Experimental MF/BP Leaf Term GOA',NULL,19553,NULL,'GO:0071277|P:cellular response to calcium ion|IDA',NULL,NULL,NULL,NULL,NULL),(141241,'Experimental MF/BP Leaf Term GOA',NULL,19555,NULL,'GO:0050829|P:defense response to Gram-negative bacterium|IDA; GO:0050830|P:defense response to Gram-positive bacterium|IDA',NULL,NULL,NULL,NULL,NULL),(141242,'Experimental MF/BP Leaf Term GOA',NULL,19557,NULL,'GO:0004491|F:methylmalonate-semialdehyde dehydrogenase (acylating) activity|IMP; GO:0006210|P:thymine catabolic process|IMP',NULL,NULL,NULL,NULL,NULL),(141243,'Experimental MF/BP Leaf Term GOA',NULL,19562,NULL,'GO:0003094|P:glomerular filtration|IEP; GO:0061042|P:vascular wound healing|IEP',NULL,NULL,NULL,NULL,NULL),(141244,'Experimental MF/BP Leaf Term GOA',NULL,19569,NULL,'GO:0042633|P:hair cycle|IDA',NULL,NULL,NULL,NULL,NULL),(141245,'Experimental MF/BP Leaf Term GOA',NULL,19585,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(141246,'Experimental MF/BP Leaf Term GOA',NULL,19598,NULL,'GO:0010457|P:centriole-centriole cohesion|IGI',NULL,NULL,NULL,NULL,NULL),(141247,'Experimental MF/BP Leaf Term GOA',NULL,19601,NULL,'GO:0032137|F:guanine/thymine mispair binding|IMP; GO:0008022|F:protein C-terminus binding|IPI; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(141248,'Experimental MF/BP Leaf Term GOA',NULL,19603,NULL,'GO:0004980|F:melanocyte-stimulating hormone receptor activity|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0070914|P:UV-damage excision repair|IDA',NULL,NULL,NULL,NULL,NULL),(141249,'Experimental MF/BP Leaf Term GOA',NULL,19605,NULL,'GO:0090026|P:positive regulation of monocyte chemotaxis|IDA; GO:0090023|P:positive regulation of neutrophil chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(141250,'Experimental MF/BP Leaf Term GOA',NULL,19607,NULL,'GO:0071294|P:cellular response to zinc ion|IEP',NULL,NULL,NULL,NULL,NULL),(141251,'Experimental MF/BP Leaf Term GOA',NULL,19608,NULL,'GO:0071276|P:cellular response to cadmium ion|IEP',NULL,NULL,NULL,NULL,NULL),(141252,'Experimental MF/BP Leaf Term GOA',NULL,19609,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0030544|F:Hsp70 protein binding|IPI',NULL,NULL,NULL,NULL,NULL),(141253,'Experimental MF/BP Leaf Term GOA',NULL,19611,NULL,'GO:0016231|F:beta-N-acetylglucosaminidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141254,'Experimental MF/BP Leaf Term GOA',NULL,19612,NULL,'GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI; GO:1902499|P:positive regulation of protein autoubiquitination|IDA',NULL,NULL,NULL,NULL,NULL),(141255,'Experimental MF/BP Leaf Term GOA',NULL,19614,NULL,'GO:0016422|F:mRNA (2\'-O-methyladenosine-N6-)-methyltransferase activity|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:1904047|F:S-adenosyl-L-methionine binding|IDA; GO:1903679|P:positive regulation of cap-independent translational initiation|IMP; GO:1990744|P:primary miRNA methylation|IDA',NULL,NULL,NULL,NULL,NULL),(141256,'Experimental MF/BP Leaf Term GOA',NULL,19617,NULL,'GO:0006393|P:termination of mitochondrial transcription|IDA',NULL,NULL,NULL,NULL,NULL),(141257,'Experimental MF/BP Leaf Term GOA',NULL,19619,NULL,'GO:0000266|P:mitochondrial fission|IMP',NULL,NULL,NULL,NULL,NULL),(141258,'Experimental MF/BP Leaf Term GOA',NULL,19621,NULL,'GO:1903715|P:regulation of aerobic respiration|IDA',NULL,NULL,NULL,NULL,NULL),(141259,'Experimental MF/BP Leaf Term GOA',NULL,19623,NULL,'GO:0030272|F:5-formyltetrahydrofolate cyclo-ligase activity|IDA; GO:0005524|F:ATP binding|IDA; GO:0005542|F:folic acid binding|IDA; GO:0046657|P:folic acid catabolic process|IMP; GO:0035999|P:tetrahydrofolate interconversion|IMP',NULL,NULL,NULL,NULL,NULL),(141260,'Experimental MF/BP Leaf Term GOA',NULL,19624,NULL,'GO:0004489|F:methylenetetrahydrofolate reductase (NAD(P)H) activity|IDA; GO:0001843|P:neural tube closure|IMP; GO:0035999|P:tetrahydrofolate interconversion|IDA',NULL,NULL,NULL,NULL,NULL),(141261,'Experimental MF/BP Leaf Term GOA',NULL,19627,NULL,'GO:0090050|P:positive regulation of cell migration involved in sprouting angiogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(141262,'Experimental MF/BP Leaf Term GOA',NULL,19630,NULL,'GO:0030586|F:[methionine synthase] reductase activity|IDA; GO:0050444|F:aquacobalamin reductase (NADPH) activity|IDA; GO:0071949|F:FAD binding|IDA; GO:0010181|F:FMN binding|IDA; GO:0070402|F:NADPH binding|IDA; GO:0003958|F:NADPH-hemoprotein reductase activity|IDA; GO:0043418|P:homocysteine catabolic process|IDA; GO:1904042|P:negative regulation of cystathionine beta-synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141263,'Experimental MF/BP Leaf Term GOA',NULL,19632,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0007257|P:activation of JUN kinase activity|IDA; GO:0071480|P:cellular response to gamma radiation|IDA; GO:0042733|P:embryonic digit morphogenesis|IMP; GO:0060173|P:limb development|IMP',NULL,NULL,NULL,NULL,NULL),(141264,'Experimental MF/BP Leaf Term GOA',NULL,19639,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA; GO:0070300|F:phosphatidic acid binding|IDA; GO:0005546|F:phosphatidylinositol-4,5-bisphosphate binding|IDA; GO:0001786|F:phosphatidylserine binding|IDA; GO:0050321|F:tau-protein kinase activity|IMP',NULL,NULL,NULL,NULL,NULL),(141265,'Experimental MF/BP Leaf Term GOA',NULL,19640,NULL,'GO:0048487|F:beta-tubulin binding|IDA; GO:0010848|P:regulation of chromatin disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(141266,'Experimental MF/BP Leaf Term GOA',NULL,19641,NULL,'GO:0042803|F:protein homodimerization activity|IPI; GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0001867|P:complement activation, lectin pathway|IMP',NULL,NULL,NULL,NULL,NULL),(141267,'Experimental MF/BP Leaf Term GOA',NULL,19642,NULL,'GO:0005289|F:high-affinity arginine transmembrane transporter activity|IDA; GO:0005292|F:high-affinity lysine transmembrane transporter activity|IDA; GO:1990575|P:mitochondrial L-ornithine transmembrane transport|IMP',NULL,NULL,NULL,NULL,NULL),(141268,'Experimental MF/BP Leaf Term GOA',NULL,19643,NULL,'GO:0051561|P:positive regulation of mitochondrial calcium ion concentration|IMP',NULL,NULL,NULL,NULL,NULL),(141269,'Experimental MF/BP Leaf Term GOA',NULL,19644,NULL,'GO:0030332|F:cyclin binding|IPI; GO:0030957|F:Tat protein binding|IDA; GO:0007257|P:activation of JUN kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141270,'Experimental MF/BP Leaf Term GOA',NULL,19645,NULL,'GO:0030060|F:L-malate dehydrogenase activity|IDA; GO:0006108|P:malate metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141271,'Experimental MF/BP Leaf Term GOA',NULL,19647,NULL,'GO:0019166|F:trans-2-enoyl-CoA reductase (NADPH) activity|IDA',NULL,NULL,NULL,NULL,NULL),(141272,'Experimental MF/BP Leaf Term GOA',NULL,19648,NULL,'GO:0046966|F:thyroid hormone receptor binding|IDA; GO:0006367|P:transcription initiation from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(141273,'Experimental MF/BP Leaf Term GOA',NULL,19664,NULL,'GO:0015094|F:lead ion transmembrane transporter activity|IDA; GO:1905394|F:retromer complex binding|IDA; GO:0015100|F:vanadium ion transmembrane transporter activity|IDA; GO:0070574|P:cadmium ion transmembrane transport|IDA; GO:0006824|P:cobalt ion transport|IDA; GO:0015692|P:lead ion transport|IDA; GO:0060586|P:multicellular organismal iron ion homeostasis|IMP; GO:0015676|P:vanadium ion transport|IDA',NULL,NULL,NULL,NULL,NULL),(141274,'Experimental MF/BP Leaf Term GOA',NULL,19666,NULL,'GO:0003830|F:beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|IMP',NULL,NULL,NULL,NULL,NULL),(141275,'Experimental MF/BP Leaf Term GOA',NULL,19669,NULL,'GO:0004602|F:glutathione peroxidase activity|IDA; GO:0004364|F:glutathione transferase activity|IDA; GO:0071449|P:cellular response to lipid hydroperoxide|IDA',NULL,NULL,NULL,NULL,NULL),(141276,'Experimental MF/BP Leaf Term GOA',NULL,19671,NULL,'GO:0004587|F:ornithine-oxo-acid transaminase activity|EXP; GO:0034214|P:protein hexamerization|IDA',NULL,NULL,NULL,NULL,NULL),(141277,'Experimental MF/BP Leaf Term GOA',NULL,19673,NULL,'GO:0000979|F:RNA polymerase II core promoter sequence-specific DNA binding|IMP',NULL,NULL,NULL,NULL,NULL),(141278,'Experimental MF/BP Leaf Term GOA',NULL,19675,NULL,'GO:0060400|P:negative regulation of growth hormone receptor signaling pathway|IDA; GO:2000009|P:negative regulation of protein localization to cell surface|IDA',NULL,NULL,NULL,NULL,NULL),(141279,'Experimental MF/BP Leaf Term GOA',NULL,19677,NULL,'GO:0005524|F:ATP binding|IDA; GO:0000287|F:magnesium ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(141280,'Experimental MF/BP Leaf Term GOA',NULL,19679,NULL,'GO:0043303|P:mast cell degranulation|IDA',NULL,NULL,NULL,NULL,NULL),(141281,'Experimental MF/BP Leaf Term GOA',NULL,19681,NULL,'GO:0070039|F:rRNA (guanosine-2\'-O-)-methyltransferase activity|EXP',NULL,NULL,NULL,NULL,NULL),(141282,'Experimental MF/BP Leaf Term GOA',NULL,19683,NULL,'GO:0007095|P:mitotic G2 DNA damage checkpoint|IMP; GO:1905168|P:positive regulation of double-strand break repair via homologous recombination|IMP',NULL,NULL,NULL,NULL,NULL),(141283,'Experimental MF/BP Leaf Term GOA',NULL,19684,NULL,'GO:0046623|F:sphingolipid-translocating ATPase activity|IMP',NULL,NULL,NULL,NULL,NULL),(141284,'Experimental MF/BP Leaf Term GOA',NULL,19692,NULL,'GO:0043522|F:leucine zipper domain binding|IPI; GO:0010735|P:positive regulation of transcription via serum response element binding|IDA',NULL,NULL,NULL,NULL,NULL),(141285,'Experimental MF/BP Leaf Term GOA',NULL,19694,NULL,'GO:0043984|P:histone H4-K16 acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(141286,'Experimental MF/BP Leaf Term GOA',NULL,19701,NULL,'GO:0035329|P:hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(141287,'Experimental MF/BP Leaf Term GOA',NULL,19702,NULL,'GO:0035329|P:hippo signaling|IDA',NULL,NULL,NULL,NULL,NULL),(141288,'Experimental MF/BP Leaf Term GOA',NULL,19717,NULL,'GO:0071394|P:cellular response to testosterone stimulus|IDA; GO:0001771|P:immunological synapse formation|IDA; GO:0022614|P:membrane to membrane docking|IEP; GO:2000643|P:positive regulation of early endosome to late endosome transport|IGI; GO:1902966|P:positive regulation of protein localization to early endosome|IGI',NULL,NULL,NULL,NULL,NULL),(141289,'Experimental MF/BP Leaf Term GOA',NULL,19718,NULL,'GO:0019085|P:early viral transcription|IDA; GO:0019086|P:late viral transcription|IDA',NULL,NULL,NULL,NULL,NULL),(141290,'Experimental MF/BP Leaf Term GOA',NULL,19737,NULL,'GO:0035176|P:social behavior|IEP',NULL,NULL,NULL,NULL,NULL),(141291,'Experimental MF/BP Leaf Term GOA',NULL,19739,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0071276|P:cellular response to cadmium ion|IEP; GO:0071280|P:cellular response to copper ion|IEP; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IEP; GO:0071294|P:cellular response to zinc ion|IDA',NULL,NULL,NULL,NULL,NULL),(141292,'Experimental MF/BP Leaf Term GOA',NULL,19740,NULL,'GO:0071276|P:cellular response to cadmium ion|IEP; GO:0071294|P:cellular response to zinc ion|IEP',NULL,NULL,NULL,NULL,NULL),(141293,'Experimental MF/BP Leaf Term GOA',NULL,19742,NULL,'GO:0071276|P:cellular response to cadmium ion|IEP; GO:0036018|P:cellular response to erythropoietin|IEP; GO:0071294|P:cellular response to zinc ion|IEP',NULL,NULL,NULL,NULL,NULL),(141294,'Experimental MF/BP Leaf Term GOA',NULL,19743,NULL,'GO:0051117|F:ATPase binding|IPI',NULL,NULL,NULL,NULL,NULL),(141295,'Experimental MF/BP Leaf Term GOA',NULL,19744,NULL,'GO:0046922|F:peptide-O-fucosyltransferase activity|IDA; GO:0036066|P:protein O-linked fucosylation|IDA',NULL,NULL,NULL,NULL,NULL),(141296,'Experimental MF/BP Leaf Term GOA',NULL,19745,NULL,'GO:0008270|F:zinc ion binding|IDA; GO:0036018|P:cellular response to erythropoietin|IEP; GO:0036016|P:cellular response to interleukin-3|IEP; GO:0071294|P:cellular response to zinc ion|IEP',NULL,NULL,NULL,NULL,NULL),(141297,'Experimental MF/BP Leaf Term GOA',NULL,19746,NULL,'GO:0001103|F:RNA polymerase II repressing transcription factor binding|IPI; GO:0001085|F:RNA polymerase II transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(141298,'Experimental MF/BP Leaf Term GOA',NULL,19753,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141299,'Experimental MF/BP Leaf Term GOA',NULL,19758,NULL,'GO:0010918|P:positive regulation of mitochondrial membrane potential|IDA',NULL,NULL,NULL,NULL,NULL),(141300,'Experimental MF/BP Leaf Term GOA',NULL,19760,NULL,'GO:0052629|F:phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|IDA; GO:0004438|F:phosphatidylinositol-3-phosphatase activity|IDA; GO:0070584|P:mitochondrion morphogenesis|IDA; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141301,'Experimental MF/BP Leaf Term GOA',NULL,19761,NULL,'GO:0004438|F:phosphatidylinositol-3-phosphatase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141302,'Experimental MF/BP Leaf Term GOA',NULL,19762,NULL,'GO:0060304|P:regulation of phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141303,'Experimental MF/BP Leaf Term GOA',NULL,19763,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(141304,'Experimental MF/BP Leaf Term GOA',NULL,19764,NULL,'GO:0004438|F:phosphatidylinositol-3-phosphatase activity|IDA; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141305,'Experimental MF/BP Leaf Term GOA',NULL,19766,NULL,'GO:0046570|F:methylthioribulose 1-phosphate dehydratase activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0019509|P:L-methionine salvage from methylthioadenosine|IMP; GO:0051289|P:protein homotetramerization|IDA; GO:0070269|P:pyroptosis|IMP',NULL,NULL,NULL,NULL,NULL),(141306,'Experimental MF/BP Leaf Term GOA',NULL,19773,NULL,'GO:0090102|P:cochlea development|IMP',NULL,NULL,NULL,NULL,NULL),(141307,'Experimental MF/BP Leaf Term GOA',NULL,19774,NULL,'GO:0051044|P:positive regulation of membrane protein ectodomain proteolysis|IDA',NULL,NULL,NULL,NULL,NULL),(141308,'Experimental MF/BP Leaf Term GOA',NULL,19775,NULL,'GO:0000381|P:regulation of alternative mRNA splicing, via spliceosome|IMP',NULL,NULL,NULL,NULL,NULL),(141309,'Experimental MF/BP Leaf Term GOA',NULL,19776,NULL,'GO:0004602|F:glutathione peroxidase activity|IDA; GO:0004464|F:leukotriene-C4 synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141310,'Experimental MF/BP Leaf Term GOA',NULL,19782,NULL,'GO:0042826|F:histone deacetylase binding|IPI',NULL,NULL,NULL,NULL,NULL),(141311,'Experimental MF/BP Leaf Term GOA',NULL,19783,NULL,'GO:0042826|F:histone deacetylase binding|IPI',NULL,NULL,NULL,NULL,NULL),(141312,'Experimental MF/BP Leaf Term GOA',NULL,19784,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(141313,'Experimental MF/BP Leaf Term GOA',NULL,19785,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0051562|P:negative regulation of mitochondrial calcium ion concentration|IDA',NULL,NULL,NULL,NULL,NULL),(141314,'Experimental MF/BP Leaf Term GOA',NULL,19786,NULL,'GO:0043531|F:ADP binding|IDA; GO:0019003|F:GDP binding|IDA; GO:0000266|P:mitochondrial fission|IMP; GO:0090141|P:positive regulation of mitochondrial fission|IDA',NULL,NULL,NULL,NULL,NULL),(141315,'Experimental MF/BP Leaf Term GOA',NULL,19790,NULL,'GO:0003785|F:actin monomer binding|IDA',NULL,NULL,NULL,NULL,NULL),(141316,'Experimental MF/BP Leaf Term GOA',NULL,19796,NULL,'GO:0015881|P:creatine transmembrane transport|IDA',NULL,NULL,NULL,NULL,NULL),(141317,'Experimental MF/BP Leaf Term GOA',NULL,19797,NULL,'GO:0008022|F:protein C-terminus binding|IDA; GO:0043539|F:protein serine/threonine kinase activator activity|IDA; GO:0097110|F:scaffold protein binding|IPI; GO:0070371|P:ERK1 and ERK2 cascade|IMP',NULL,NULL,NULL,NULL,NULL),(141318,'Experimental MF/BP Leaf Term GOA',NULL,19798,NULL,'GO:0007098|P:centrosome cycle|IMP',NULL,NULL,NULL,NULL,NULL),(141319,'Experimental MF/BP Leaf Term GOA',NULL,19827,NULL,'GO:0050699|F:WW domain binding|IPI; GO:0000086|P:G2/M transition of mitotic cell cycle|IGI',NULL,NULL,NULL,NULL,NULL),(141320,'Experimental MF/BP Leaf Term GOA',NULL,19836,NULL,'GO:0008073|F:ornithine decarboxylase inhibitor activity|IDA',NULL,NULL,NULL,NULL,NULL),(141321,'Experimental MF/BP Leaf Term GOA',NULL,19838,NULL,'GO:0004739|F:pyruvate dehydrogenase (acetyl-transferring) activity|IDA',NULL,NULL,NULL,NULL,NULL),(141322,'Experimental MF/BP Leaf Term GOA',NULL,19841,NULL,'GO:0005524|F:ATP binding|IDA',NULL,NULL,NULL,NULL,NULL),(141323,'Experimental MF/BP Leaf Term GOA',NULL,19847,NULL,'GO:0002024|P:diet induced thermogenesis|IMP; GO:0097009|P:energy homeostasis|IMP; GO:0010637|P:negative regulation of mitochondrial fusion|IMP',NULL,NULL,NULL,NULL,NULL),(141324,'Experimental MF/BP Leaf Term GOA',NULL,19848,NULL,'GO:0052629|F:phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|IDA; GO:0004438|F:phosphatidylinositol-3-phosphatase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA; GO:0060304|P:regulation of phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141325,'Experimental MF/BP Leaf Term GOA',NULL,19849,NULL,'GO:0052629|F:phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|IDA; GO:0004438|F:phosphatidylinositol-3-phosphatase activity|IDA; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA; GO:0060304|P:regulation of phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141326,'Experimental MF/BP Leaf Term GOA',NULL,19850,NULL,'GO:0004438|F:phosphatidylinositol-3-phosphatase activity|IDA; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141327,'Experimental MF/BP Leaf Term GOA',NULL,19852,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(141328,'Experimental MF/BP Leaf Term GOA',NULL,19856,NULL,'GO:0036313|F:phosphatidylinositol 3-kinase catalytic subunit binding|IPI; GO:0014067|P:negative regulation of phosphatidylinositol 3-kinase signaling|IDA',NULL,NULL,NULL,NULL,NULL),(141329,'Experimental MF/BP Leaf Term GOA',NULL,19857,NULL,'GO:0046982|F:protein heterodimerization activity|IDA; GO:0034197|P:triglyceride transport|IDA',NULL,NULL,NULL,NULL,NULL),(141330,'Experimental MF/BP Leaf Term GOA',NULL,19858,NULL,'GO:0008502|F:melatonin receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(141331,'Experimental MF/BP Leaf Term GOA',NULL,19861,NULL,'GO:0000287|F:magnesium ion binding|IDA; GO:0004487|F:methylenetetrahydrofolate dehydrogenase (NAD+) activity|IDA; GO:0004488|F:methylenetetrahydrofolate dehydrogenase (NADP+) activity|IDA; GO:0042301|F:phosphate ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(141332,'Experimental MF/BP Leaf Term GOA',NULL,19865,NULL,'GO:0052629|F:phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|IDA; GO:0004438|F:phosphatidylinositol-3-phosphatase activity|IDA; GO:0046856|P:phosphatidylinositol dephosphorylation|IDA; GO:0060304|P:regulation of phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141333,'Experimental MF/BP Leaf Term GOA',NULL,19867,NULL,'GO:0050821|P:protein stabilization|IDA; GO:0060304|P:regulation of phosphatidylinositol dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141334,'Experimental MF/BP Leaf Term GOA',NULL,19871,NULL,'GO:0090249|P:regulation of cell motility involved in somitogenic axis elongation|IGI',NULL,NULL,NULL,NULL,NULL),(141335,'Experimental MF/BP Leaf Term GOA',NULL,19876,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0007257|P:activation of JUN kinase activity|IDA; GO:0071360|P:cellular response to exogenous dsRNA|IDA; GO:0000266|P:mitochondrial fission|IMP; GO:0071650|P:negative regulation of chemokine (C-C motif) ligand 5 production|IMP; GO:0050689|P:negative regulation of defense response to virus by host|IMP; GO:0010637|P:negative regulation of mitochondrial fusion|IDA; GO:0051898|P:negative regulation of protein kinase B signaling|IDA; GO:0090141|P:positive regulation of mitochondrial fission|IDA; GO:0031648|P:protein destabilization|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(141336,'Experimental MF/BP Leaf Term GOA',NULL,19877,NULL,'GO:0030506|F:ankyrin binding|IPI; GO:0006883|P:cellular sodium ion homeostasis|IDA; GO:0098735|P:positive regulation of the force of heart contraction|IMP; GO:0036376|P:sodium ion export across plasma membrane|IDA; GO:0098719|P:sodium ion import across plasma membrane|IDA',NULL,NULL,NULL,NULL,NULL),(141337,'Experimental MF/BP Leaf Term GOA',NULL,19878,NULL,'GO:1905502|F:acetyl-CoA binding|IDA; GO:0017190|P:N-terminal peptidyl-aspartic acid acetylation|IDA; GO:0018002|P:N-terminal peptidyl-glutamic acid acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(141338,'Experimental MF/BP Leaf Term GOA',NULL,19879,NULL,'GO:0043129|P:surfactant homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(141339,'Experimental MF/BP Leaf Term GOA',NULL,19882,NULL,'GO:0070182|F:DNA polymerase binding|IPI; GO:0032211|P:negative regulation of telomere maintenance via telomerase|IMP',NULL,NULL,NULL,NULL,NULL),(141340,'Experimental MF/BP Leaf Term GOA',NULL,19885,NULL,'GO:0004468|F:lysine N-acetyltransferase activity, acting on acetyl phosphate as donor|IDA; GO:0018003|P:peptidyl-lysine N6-acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(141341,'Experimental MF/BP Leaf Term GOA',NULL,19886,NULL,'GO:0017162|F:aryl hydrocarbon receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(141342,'Experimental MF/BP Leaf Term GOA',NULL,19887,NULL,'GO:0017056|F:structural constituent of nuclear pore|IMP; GO:0031081|P:nuclear pore distribution|IMP',NULL,NULL,NULL,NULL,NULL),(141343,'Experimental MF/BP Leaf Term GOA',NULL,19889,NULL,'GO:0004741|F:[pyruvate dehydrogenase (lipoamide)] phosphatase activity|EXP',NULL,NULL,NULL,NULL,NULL),(141344,'Experimental MF/BP Leaf Term GOA',NULL,19890,NULL,'GO:0031419|F:cobalamin binding|IDA; GO:0004494|F:methylmalonyl-CoA mutase activity|IMP; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(141345,'Experimental MF/BP Leaf Term GOA',NULL,19891,NULL,'GO:0017112|F:Rab guanyl-nucleotide exchange factor activity|IDA',NULL,NULL,NULL,NULL,NULL),(141346,'Experimental MF/BP Leaf Term GOA',NULL,19893,NULL,'GO:0007283|P:spermatogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(141347,'Experimental MF/BP Leaf Term GOA',NULL,19894,NULL,'GO:0030898|F:actin-dependent ATPase activity|IDA; GO:0043531|F:ADP binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0031532|P:actin cytoskeleton reorganization|IMP; GO:0030224|P:monocyte differentiation|IEP; GO:1903919|P:negative regulation of actin filament severing|IMP; GO:0030220|P:platelet formation|IMP',NULL,NULL,NULL,NULL,NULL),(141348,'Experimental MF/BP Leaf Term GOA',NULL,19895,NULL,'GO:0005516|F:calmodulin binding|IMP; GO:0030507|F:spectrin binding|IDA; GO:0050957|P:equilibrioception|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(141349,'Experimental MF/BP Leaf Term GOA',NULL,19898,NULL,'GO:0051371|F:muscle alpha-actinin binding|IPI; GO:0017124|F:SH3 domain binding|IPI; GO:0045214|P:sarcomere organization|IMP',NULL,NULL,NULL,NULL,NULL),(141350,'Experimental MF/BP Leaf Term GOA',NULL,19904,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0016558|P:protein import into peroxisome matrix|IDA',NULL,NULL,NULL,NULL,NULL),(141351,'Experimental MF/BP Leaf Term GOA',NULL,19908,NULL,'GO:0050124|F:N-acylneuraminate-9-phosphatase activity|IDA; GO:0046380|P:N-acetylneuraminate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(141352,'Experimental MF/BP Leaf Term GOA',NULL,19909,NULL,'GO:0030898|F:actin-dependent ATPase activity|IDA; GO:0043531|F:ADP binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0048027|F:mRNA 5\'-UTR binding|IDA',NULL,NULL,NULL,NULL,NULL),(141353,'Experimental MF/BP Leaf Term GOA',NULL,19910,NULL,'GO:0030898|F:actin-dependent ATPase activity|IMP; GO:0007512|P:adult heart development|IMP; GO:0060048|P:cardiac muscle contraction|IMP; GO:0030049|P:muscle filament sliding|IMP; GO:0014728|P:regulation of the force of skeletal muscle contraction|IMP',NULL,NULL,NULL,NULL,NULL),(141354,'Experimental MF/BP Leaf Term GOA',NULL,19913,NULL,'GO:0030898|F:actin-dependent ATPase activity|IMP; GO:0007512|P:adult heart development|IMP; GO:0055009|P:atrial cardiac muscle tissue morphogenesis|IMP; GO:0030049|P:muscle filament sliding|IMP',NULL,NULL,NULL,NULL,NULL),(141355,'Experimental MF/BP Leaf Term GOA',NULL,19915,NULL,'GO:2000719|P:negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric|IDA',NULL,NULL,NULL,NULL,NULL),(141356,'Experimental MF/BP Leaf Term GOA',NULL,19917,NULL,'GO:0031648|P:protein destabilization|IMP; GO:0016558|P:protein import into peroxisome matrix|IMP',NULL,NULL,NULL,NULL,NULL),(141357,'Experimental MF/BP Leaf Term GOA',NULL,19918,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0017196|P:N-terminal peptidyl-methionine acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(141358,'Experimental MF/BP Leaf Term GOA',NULL,19926,NULL,'GO:0070034|F:telomerase RNA binding|IPI; GO:0042254|P:ribosome biogenesis|IDA; GO:0090669|P:telomerase RNA stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(141359,'Experimental MF/BP Leaf Term GOA',NULL,19928,NULL,'GO:0007283|P:spermatogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(141360,'Experimental MF/BP Leaf Term GOA',NULL,19934,NULL,'GO:0003958|F:NADPH-hemoprotein reductase activity|IDA; GO:0090346|P:cellular organofluorine metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141361,'Experimental MF/BP Leaf Term GOA',NULL,19935,NULL,'GO:0005096|F:GTPase activator activity|IMP; GO:0035509|P:negative regulation of myosin-light-chain-phosphatase activity|IMP; GO:0030593|P:neutrophil chemotaxis|IDA; GO:0030890|P:positive regulation of B cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(141362,'Experimental MF/BP Leaf Term GOA',NULL,19937,NULL,'GO:0046966|F:thyroid hormone receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(141363,'Experimental MF/BP Leaf Term GOA',NULL,19938,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IMP; GO:0072362|P:regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter|IMP',NULL,NULL,NULL,NULL,NULL),(141364,'Experimental MF/BP Leaf Term GOA',NULL,19940,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141365,'Experimental MF/BP Leaf Term GOA',NULL,19943,NULL,'GO:0031005|F:filamin binding|IPI; GO:0005523|F:tropomyosin binding|IPI; GO:0071691|P:cardiac muscle thin filament assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141366,'Experimental MF/BP Leaf Term GOA',NULL,19945,NULL,'GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141367,'Experimental MF/BP Leaf Term GOA',NULL,19953,NULL,'GO:0031404|F:chloride ion binding|IDA; GO:0042043|F:neurexin family protein binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0097110|F:scaffold protein binding|IPI; GO:0097105|P:presynaptic membrane assembly|IDA; GO:0035176|P:social behavior|IMP',NULL,NULL,NULL,NULL,NULL),(141368,'Experimental MF/BP Leaf Term GOA',NULL,19954,NULL,'GO:0031839|F:type 1 neuromedin U receptor binding|IDA; GO:0031840|F:type 2 neuromedin U receptor binding|IDA',NULL,NULL,NULL,NULL,NULL),(141369,'Experimental MF/BP Leaf Term GOA',NULL,19955,NULL,'GO:0005525|F:GTP binding|IDA; GO:0033342|P:negative regulation of collagen binding|IMP; GO:0050821|P:protein stabilization|IDA',NULL,NULL,NULL,NULL,NULL),(141370,'Experimental MF/BP Leaf Term GOA',NULL,19957,NULL,'GO:0004517|F:nitric-oxide synthase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141371,'Experimental MF/BP Leaf Term GOA',NULL,19958,NULL,'GO:0016175|F:superoxide-generating NADPH oxidase activity|IDA; GO:0042554|P:superoxide anion generation|IDA',NULL,NULL,NULL,NULL,NULL),(141372,'Experimental MF/BP Leaf Term GOA',NULL,19960,NULL,'GO:0005112|F:Notch binding|IPI; GO:0071603|P:endothelial cell-cell adhesion|IDA; GO:0061484|P:hematopoietic stem cell homeostasis|IMP; GO:1902731|P:negative regulation of chondrocyte proliferation|IMP; GO:0090027|P:negative regulation of monocyte chemotaxis|IMP; GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IMP',NULL,NULL,NULL,NULL,NULL),(141373,'Experimental MF/BP Leaf Term GOA',NULL,19961,NULL,'GO:0031489|F:myosin V binding|IPI; GO:0030299|P:intestinal cholesterol absorption|IMP',NULL,NULL,NULL,NULL,NULL),(141374,'Experimental MF/BP Leaf Term GOA',NULL,19962,NULL,'GO:0046849|P:bone remodeling|IMP; GO:0045967|P:negative regulation of growth rate|IDA; GO:0003184|P:pulmonary valve morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(141375,'Experimental MF/BP Leaf Term GOA',NULL,19963,NULL,'GO:0042301|F:phosphate ion binding|IDA; GO:0031402|F:sodium ion binding|IDA; GO:0015321|F:sodium-dependent phosphate transmembrane transporter activity|IDA; GO:0030643|P:cellular phosphate ion homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(141376,'Experimental MF/BP Leaf Term GOA',NULL,19965,NULL,'GO:0015143|F:urate transmembrane transporter activity|IDA; GO:0015747|P:urate transport|IDA',NULL,NULL,NULL,NULL,NULL),(141377,'Experimental MF/BP Leaf Term GOA',NULL,19966,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0033344|P:cholesterol efflux|IDA; GO:0042632|P:cholesterol homeostasis|IDA',NULL,NULL,NULL,NULL,NULL),(141378,'Experimental MF/BP Leaf Term GOA',NULL,19969,NULL,'GO:0003214|P:cardiac left ventricle morphogenesis|IMP; GO:0003151|P:outflow tract morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(141379,'Experimental MF/BP Leaf Term GOA',NULL,19971,NULL,'GO:0045046|P:protein import into peroxisome membrane|IMP',NULL,NULL,NULL,NULL,NULL),(141380,'Experimental MF/BP Leaf Term GOA',NULL,19972,NULL,'GO:0045409|P:negative regulation of interleukin-6 biosynthetic process|IDA; GO:0045751|P:negative regulation of Toll signaling pathway|IDA; GO:0045345|P:positive regulation of MHC class I biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(141381,'Experimental MF/BP Leaf Term GOA',NULL,19974,NULL,'GO:0032090|F:Pyrin domain binding|IPI; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA',NULL,NULL,NULL,NULL,NULL),(141382,'Experimental MF/BP Leaf Term GOA',NULL,19977,NULL,'GO:0006335|P:DNA replication-dependent nucleosome assembly|IDA',NULL,NULL,NULL,NULL,NULL),(141383,'Experimental MF/BP Leaf Term GOA',NULL,19978,NULL,'GO:1905929|P:positive regulation of invadopodium disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(141384,'Experimental MF/BP Leaf Term GOA',NULL,19982,NULL,'GO:0071074|F:eukaryotic initiation factor eIF2 binding|IPI; GO:1903912|P:negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation|IDA; GO:1903898|P:negative regulation of PERK-mediated unfolded protein response|IDA; GO:1990441|P:negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress|IDA; GO:0070262|P:peptidyl-serine dephosphorylation|IDA; GO:1903676|P:positive regulation of cap-dependent translational initiation|IDA; GO:1903679|P:positive regulation of cap-independent translational initiation|IDA; GO:1902237|P:positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(141385,'Experimental MF/BP Leaf Term GOA',NULL,19986,NULL,'GO:0008456|F:alpha-N-acetylgalactosaminidase activity|IDA; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(141386,'Experimental MF/BP Leaf Term GOA',NULL,19987,NULL,'GO:0050829|P:defense response to Gram-negative bacterium|IMP; GO:0050717|P:positive regulation of interleukin-1 alpha secretion|IMP; GO:2000778|P:positive regulation of interleukin-6 secretion|IMP; GO:2000484|P:positive regulation of interleukin-8 secretion|IMP',NULL,NULL,NULL,NULL,NULL),(141387,'Experimental MF/BP Leaf Term GOA',NULL,19988,NULL,'GO:0005521|F:lamin binding|IPI',NULL,NULL,NULL,NULL,NULL),(141388,'Experimental MF/BP Leaf Term GOA',NULL,19993,NULL,'GO:0017162|F:aryl hydrocarbon receptor binding|IPI; GO:0030331|F:estrogen receptor binding|IPI; GO:0000435|P:positive regulation of transcription from RNA polymerase II promoter by galactose|IDA',NULL,NULL,NULL,NULL,NULL),(141389,'Experimental MF/BP Leaf Term GOA',NULL,19995,NULL,'GO:0097718|F:disordered domain specific binding|IPI; GO:0046982|F:protein heterodimerization activity|IMP; GO:0071392|P:cellular response to estradiol stimulus|IDA',NULL,NULL,NULL,NULL,NULL),(141390,'Experimental MF/BP Leaf Term GOA',NULL,19996,NULL,'GO:0008273|F:calcium, potassium:sodium antiporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(141391,'Experimental MF/BP Leaf Term GOA',NULL,19998,NULL,'GO:0050821|P:protein stabilization|IMP; GO:0061635|P:regulation of protein complex stability|IDA',NULL,NULL,NULL,NULL,NULL),(141392,'Experimental MF/BP Leaf Term GOA',NULL,19999,NULL,'GO:0070888|F:E-box binding|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0001102|F:RNA polymerase II activating transcription factor binding|IPI',NULL,NULL,NULL,NULL,NULL),(141393,'Experimental MF/BP Leaf Term GOA',NULL,20001,NULL,'GO:0043015|F:gamma-tubulin binding|IDA; GO:0071456|P:cellular response to hypoxia|IEP',NULL,NULL,NULL,NULL,NULL),(141394,'Experimental MF/BP Leaf Term GOA',NULL,20002,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141395,'Experimental MF/BP Leaf Term GOA',NULL,20004,NULL,'GO:0031625|F:ubiquitin protein ligase binding|IPI; GO:0042775|P:mitochondrial ATP synthesis coupled electron transport|IMP',NULL,NULL,NULL,NULL,NULL),(141396,'Experimental MF/BP Leaf Term GOA',NULL,20006,NULL,'GO:0008137|F:NADH dehydrogenase (ubiquinone) activity|IMP; GO:0007420|P:brain development|IMP; GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141397,'Experimental MF/BP Leaf Term GOA',NULL,20013,NULL,'GO:0050699|F:WW domain binding|IPI',NULL,NULL,NULL,NULL,NULL),(141398,'Experimental MF/BP Leaf Term GOA',NULL,20015,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141399,'Experimental MF/BP Leaf Term GOA',NULL,20021,NULL,'GO:0023024|F:MHC class I protein complex binding|IPI',NULL,NULL,NULL,NULL,NULL),(141400,'Experimental MF/BP Leaf Term GOA',NULL,20022,NULL,'GO:0004882|F:androgen receptor activity|IDA; GO:0030331|F:estrogen receptor binding|IDA; GO:0042826|F:histone deacetylase binding|IPI; GO:0071456|P:cellular response to hypoxia|IDA; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071356|P:cellular response to tumor necrosis factor|IEP; GO:0071899|P:negative regulation of estrogen receptor binding|IDA; GO:2000836|P:positive regulation of androgen secretion|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0043491|P:protein kinase B signaling|IMP',NULL,NULL,NULL,NULL,NULL),(141401,'Experimental MF/BP Leaf Term GOA',NULL,20026,NULL,'GO:0016018|F:cyclosporin A binding|IDA; GO:0003755|F:peptidyl-prolyl cis-trans isomerase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141402,'Experimental MF/BP Leaf Term GOA',NULL,20027,NULL,'GO:0051117|F:ATPase binding|IPI; GO:0031625|F:ubiquitin protein ligase binding|IPI',NULL,NULL,NULL,NULL,NULL),(141403,'Experimental MF/BP Leaf Term GOA',NULL,20028,NULL,'GO:0007249|P:I-kappaB kinase/NF-kappaB signaling|IDA; GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IDA; GO:1900226|P:negative regulation of NLRP3 inflammasome complex assembly|IDA',NULL,NULL,NULL,NULL,NULL),(141404,'Experimental MF/BP Leaf Term GOA',NULL,20029,NULL,'GO:0071222|P:cellular response to lipopolysaccharide|IDA; GO:0050713|P:negative regulation of interleukin-1 beta secretion|IMP; GO:1901223|P:negative regulation of NIK/NF-kappaB signaling|IDA; GO:0050718|P:positive regulation of interleukin-1 beta secretion|IDA',NULL,NULL,NULL,NULL,NULL),(141405,'Experimental MF/BP Leaf Term GOA',NULL,20032,NULL,'GO:0000309|F:nicotinamide-nucleotide adenylyltransferase activity|IDA; GO:0004515|F:nicotinate-nucleotide adenylyltransferase activity|IDA; GO:1990966|P:ATP generation from poly-ADP-D-ribose|IDA',NULL,NULL,NULL,NULL,NULL),(141406,'Experimental MF/BP Leaf Term GOA',NULL,20033,NULL,'GO:0017124|F:SH3 domain binding|IPI; GO:0016176|F:superoxide-generating NADPH oxidase activator activity|IDA',NULL,NULL,NULL,NULL,NULL),(141407,'Experimental MF/BP Leaf Term GOA',NULL,20034,NULL,'GO:0022617|P:extracellular matrix disassembly|IMP',NULL,NULL,NULL,NULL,NULL),(141408,'Experimental MF/BP Leaf Term GOA',NULL,20037,NULL,'GO:0003180|P:aortic valve morphogenesis|IMP; GO:0071372|P:cellular response to follicle-stimulating hormone stimulus|IDA; GO:0035924|P:cellular response to vascular endothelial growth factor stimulus|IDA; GO:0003192|P:mitral valve formation|IMP; GO:2000811|P:negative regulation of anoikis|IMP; GO:0090051|P:negative regulation of cell migration involved in sprouting angiogenesis|IDA; GO:0045967|P:negative regulation of growth rate|IDA; GO:0097150|P:neuronal stem cell population maintenance|IEP; GO:0003151|P:outflow tract morphogenesis|IMP; GO:0003184|P:pulmonary valve morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(141409,'Experimental MF/BP Leaf Term GOA',NULL,20039,NULL,'GO:1903348|P:positive regulation of bicellular tight junction assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141410,'Experimental MF/BP Leaf Term GOA',NULL,20040,NULL,'GO:1903348|P:positive regulation of bicellular tight junction assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141411,'Experimental MF/BP Leaf Term GOA',NULL,20041,NULL,'GO:0015747|P:urate transport|IMP',NULL,NULL,NULL,NULL,NULL),(141412,'Experimental MF/BP Leaf Term GOA',NULL,20042,NULL,'GO:0015321|F:sodium-dependent phosphate transmembrane transporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(141413,'Experimental MF/BP Leaf Term GOA',NULL,20043,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(141414,'Experimental MF/BP Leaf Term GOA',NULL,20053,NULL,'GO:0071456|P:cellular response to hypoxia|IDA; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IDA',NULL,NULL,NULL,NULL,NULL),(141415,'Experimental MF/BP Leaf Term GOA',NULL,20054,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141416,'Experimental MF/BP Leaf Term GOA',NULL,20055,NULL,'GO:0008137|F:NADH dehydrogenase (ubiquinone) activity|IDA; GO:0035458|P:cellular response to interferon-beta|IDA; GO:0071300|P:cellular response to retinoic acid|IDA; GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141417,'Experimental MF/BP Leaf Term GOA',NULL,20056,NULL,'GO:0035243|F:protein-arginine omega-N symmetric methyltransferase activity|IMP; GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP; GO:0019918|P:peptidyl-arginine methylation, to symmetrical-dimethyl arginine|IMP',NULL,NULL,NULL,NULL,NULL),(141418,'Experimental MF/BP Leaf Term GOA',NULL,20057,NULL,'GO:0030890|P:positive regulation of B cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(141419,'Experimental MF/BP Leaf Term GOA',NULL,20063,NULL,'GO:0042301|F:phosphate ion binding|IDA; GO:0006148|P:inosine catabolic process|IDA; GO:0070970|P:interleukin-2 secretion|IMP; GO:0034356|P:NAD biosynthesis via nicotinamide riboside salvage pathway|IGI; GO:0006738|P:nicotinamide riboside catabolic process|IDA; GO:0034418|P:urate biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(141420,'Experimental MF/BP Leaf Term GOA',NULL,20064,NULL,'GO:0050152|F:omega-amidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141421,'Experimental MF/BP Leaf Term GOA',NULL,20069,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141422,'Experimental MF/BP Leaf Term GOA',NULL,20070,NULL,'GO:0043023|F:ribosomal large subunit binding|IDA; GO:1904751|P:positive regulation of protein localization to nucleolus|IMP; GO:0000055|P:ribosomal large subunit export from nucleus|IMP',NULL,NULL,NULL,NULL,NULL),(141423,'Experimental MF/BP Leaf Term GOA',NULL,20071,NULL,'GO:0004379|F:glycylpeptide N-tetradecanoyltransferase activity|IDA; GO:0018008|P:N-terminal peptidyl-glycine N-myristoylation|IDA',NULL,NULL,NULL,NULL,NULL),(141424,'Experimental MF/BP Leaf Term GOA',NULL,20072,NULL,'GO:0004515|F:nicotinate-nucleotide adenylyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141425,'Experimental MF/BP Leaf Term GOA',NULL,20073,NULL,'GO:0060335|P:positive regulation of interferon-gamma-mediated signaling pathway|IDA; GO:0045345|P:positive regulation of MHC class I biosynthetic process|IDA; GO:0060340|P:positive regulation of type I interferon-mediated signaling pathway|IDA',NULL,NULL,NULL,NULL,NULL),(141426,'Experimental MF/BP Leaf Term GOA',NULL,20074,NULL,'GO:0005524|F:ATP binding|IDA; GO:1904784|P:NLRP1 inflammasome complex assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141427,'Experimental MF/BP Leaf Term GOA',NULL,20075,NULL,'GO:0042924|F:neuromedin U binding|IDA; GO:0001607|F:neuromedin U receptor activity|IDA; GO:0007202|P:activation of phospholipase C activity|IDA',NULL,NULL,NULL,NULL,NULL),(141428,'Experimental MF/BP Leaf Term GOA',NULL,20077,NULL,'GO:0022849|F:glutamate-gated calcium ion channel activity|IDA; GO:0004972|F:NMDA glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(141429,'Experimental MF/BP Leaf Term GOA',NULL,20078,NULL,'GO:0022849|F:glutamate-gated calcium ion channel activity|IDA; GO:0004972|F:NMDA glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(141430,'Experimental MF/BP Leaf Term GOA',NULL,20079,NULL,'GO:0050700|F:CARD domain binding|IDA; GO:0042803|F:protein homodimerization activity|IPI; GO:0071225|P:cellular response to muramyl dipeptide|IMP; GO:0042228|P:interleukin-8 biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(141431,'Experimental MF/BP Leaf Term GOA',NULL,20080,NULL,'GO:0017188|F:aspartate N-acetyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141432,'Experimental MF/BP Leaf Term GOA',NULL,20081,NULL,'GO:0000340|F:RNA 7-methylguanosine cap binding|IMP',NULL,NULL,NULL,NULL,NULL),(141433,'Experimental MF/BP Leaf Term GOA',NULL,20084,NULL,'GO:0010181|F:FMN binding|IDA; GO:0036245|P:cellular response to menadione|IDA',NULL,NULL,NULL,NULL,NULL),(141434,'Experimental MF/BP Leaf Term GOA',NULL,20085,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141435,'Experimental MF/BP Leaf Term GOA',NULL,20086,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141436,'Experimental MF/BP Leaf Term GOA',NULL,20088,NULL,'GO:0001205|F:distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:0046982|F:protein heterodimerization activity|IDA; GO:0000980|F:RNA polymerase II distal enhancer sequence-specific DNA binding|IDA; GO:1904385|P:cellular response to angiotensin|IMP; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071354|P:cellular response to interleukin-6|IMP; GO:0071222|P:cellular response to lipopolysaccharide|IMP; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:0071316|P:cellular response to nicotine|IMP; GO:0010956|P:negative regulation of calcidiol 1-monooxygenase activity|IDA; GO:1900127|P:positive regulation of hyaluronan biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(141437,'Experimental MF/BP Leaf Term GOA',NULL,20090,NULL,'GO:0000224|F:peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|IGI',NULL,NULL,NULL,NULL,NULL),(141438,'Experimental MF/BP Leaf Term GOA',NULL,20093,NULL,'GO:0030251|F:guanylate cyclase inhibitor activity|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:1990381|F:ubiquitin-specific protease binding|IPI; GO:0010754|P:negative regulation of cGMP-mediated signaling|IDA',NULL,NULL,NULL,NULL,NULL),(141439,'Experimental MF/BP Leaf Term GOA',NULL,20095,NULL,'GO:0023024|F:MHC class I protein complex binding|IPI; GO:1990405|F:protein antigen binding|IDA',NULL,NULL,NULL,NULL,NULL),(141440,'Experimental MF/BP Leaf Term GOA',NULL,20096,NULL,'GO:0035198|F:miRNA binding|IDA; GO:0034046|F:poly(G) binding|IDA; GO:0008266|F:poly(U) RNA binding|IDA; GO:0004654|F:polyribonucleotide nucleotidyltransferase activity|IDA; GO:0035458|P:cellular response to interferon-beta|IDA; GO:0000958|P:mitochondrial mRNA catabolic process|IDA; GO:0097222|P:mitochondrial mRNA polyadenylation|IMP; GO:0071042|P:nuclear polyadenylation-dependent mRNA catabolic process|IDA; GO:2000627|P:positive regulation of miRNA catabolic process|IDA; GO:0070207|P:protein homotrimerization|IDA; GO:0035928|P:rRNA import into mitochondrion|IDA',NULL,NULL,NULL,NULL,NULL),(141441,'Experimental MF/BP Leaf Term GOA',NULL,20097,NULL,'GO:0070087|F:chromo shadow domain binding|IPI; GO:0042826|F:histone deacetylase binding|IPI; GO:0008022|F:protein C-terminus binding|IPI; GO:0007420|P:brain development|IMP; GO:0071481|P:cellular response to X-ray|IMP; GO:0042471|P:ear morphogenesis|IMP; GO:0048557|P:embryonic digestive tract morphogenesis|IMP; GO:0035115|P:embryonic forelimb morphogenesis|IMP; GO:0035261|P:external genitalia morphogenesis|IMP; GO:0060325|P:face morphogenesis|IMP; GO:0061010|P:gall bladder development|IMP; GO:0003007|P:heart morphogenesis|IMP; GO:0003151|P:outflow tract morphogenesis|IMP; GO:0007605|P:sensory perception of sound|IMP; GO:0061038|P:uterus morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(141442,'Experimental MF/BP Leaf Term GOA',NULL,20102,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0007512|P:adult heart development|IMP; GO:0003161|P:cardiac conduction system development|IMP; GO:0010667|P:negative regulation of cardiac muscle cell apoptotic process|IMP; GO:0003148|P:outflow tract septum morphogenesis|IMP; GO:0003285|P:septum secundum development|IMP; GO:0048536|P:spleen development|IMP; GO:0030878|P:thyroid gland development|IMP',NULL,NULL,NULL,NULL,NULL),(141443,'Experimental MF/BP Leaf Term GOA',NULL,20103,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IMP; GO:0035050|P:embryonic heart tube development|IMP',NULL,NULL,NULL,NULL,NULL),(141444,'Experimental MF/BP Leaf Term GOA',NULL,20104,NULL,'GO:0015485|F:cholesterol binding|IDA; GO:0036042|F:long-chain fatty acyl-CoA binding|IDA; GO:0070538|F:oleic acid binding|IDA; GO:0050632|F:propionyl-CoA C2-trimethyltridecanoyltransferase activity|EXP; GO:0032959|P:inositol trisphosphate biosynthetic process|IDA; GO:1901373|P:lipid hydroperoxide transport|IDA; GO:0006701|P:progesterone biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(141445,'Experimental MF/BP Leaf Term GOA',NULL,20107,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141446,'Experimental MF/BP Leaf Term GOA',NULL,20110,NULL,'GO:0010457|P:centriole-centriole cohesion|IMP; GO:0034454|P:microtubule anchoring at centrosome|IMP',NULL,NULL,NULL,NULL,NULL),(141447,'Experimental MF/BP Leaf Term GOA',NULL,20111,NULL,'GO:0010181|F:FMN binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0030170|F:pyridoxal phosphate binding|IDA; GO:0004733|F:pyridoxamine-phosphate oxidase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141448,'Experimental MF/BP Leaf Term GOA',NULL,20116,NULL,'GO:0097110|F:scaffold protein binding|IPI; GO:0035176|P:social behavior|IMP',NULL,NULL,NULL,NULL,NULL),(141449,'Experimental MF/BP Leaf Term GOA',NULL,20119,NULL,'GO:0051978|F:lysophospholipid transporter activity|IDA; GO:0051977|P:lysophospholipid transport|IDA',NULL,NULL,NULL,NULL,NULL),(141450,'Experimental MF/BP Leaf Term GOA',NULL,20121,NULL,'GO:0070698|F:type I activin receptor binding|IMP; GO:0035987|P:endodermal cell differentiation|IMP; GO:0048382|P:mesendoderm development|IMP; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IDA; GO:1901383|P:negative regulation of chorionic trophoblast cell proliferation|IDA; GO:1901164|P:negative regulation of trophoblast cell migration|IDA; GO:0001890|P:placenta development|IMP; GO:0010862|P:positive regulation of pathway-restricted SMAD protein phosphorylation|IMP; GO:0060391|P:positive regulation of SMAD protein signal transduction|IMP; GO:0010575|P:positive regulation of vascular endothelial growth factor production|IMP',NULL,NULL,NULL,NULL,NULL),(141451,'Experimental MF/BP Leaf Term GOA',NULL,20125,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0042733|P:embryonic digit morphogenesis|IMP; GO:0060173|P:limb development|IMP; GO:0042474|P:middle ear morphogenesis|IMP; GO:0060394|P:negative regulation of pathway-restricted SMAD protein phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141452,'Experimental MF/BP Leaf Term GOA',NULL,20130,NULL,'GO:0003785|F:actin monomer binding|IPI; GO:0034618|F:arginine binding|IDA; GO:0020037|F:heme binding|IDA; GO:0004517|F:nitric-oxide synthase activity|IDA; GO:0006809|P:nitric oxide biosynthetic process|IDA; GO:0031284|P:positive regulation of guanylate cyclase activity|IMP; GO:0003100|P:regulation of systemic arterial blood pressure by endothelin|IMP; GO:0019430|P:removal of superoxide radicals|IDA',NULL,NULL,NULL,NULL,NULL),(141453,'Experimental MF/BP Leaf Term GOA',NULL,20133,NULL,'GO:1905342|P:positive regulation of protein localization to kinetochore|IMP',NULL,NULL,NULL,NULL,NULL),(141454,'Experimental MF/BP Leaf Term GOA',NULL,20135,NULL,'GO:0043325|F:phosphatidylinositol-3,4-bisphosphate binding|IDA; GO:0017124|F:SH3 domain binding|IPI; GO:0016175|F:superoxide-generating NADPH oxidase activity|IMP; GO:0071276|P:cellular response to cadmium ion|IDA; GO:0045741|P:positive regulation of epidermal growth factor-activated receptor activity|IMP; GO:1900745|P:positive regulation of p38MAPK cascade|IMP; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IMP; GO:0042554|P:superoxide anion generation|IMP',NULL,NULL,NULL,NULL,NULL),(141455,'Experimental MF/BP Leaf Term GOA',NULL,20139,NULL,'GO:0050699|F:WW domain binding|IDA',NULL,NULL,NULL,NULL,NULL),(141456,'Experimental MF/BP Leaf Term GOA',NULL,20144,NULL,'GO:0034513|F:box H/ACA snoRNA binding|IPI; GO:0070034|F:telomerase RNA binding|IPI; GO:0007004|P:telomere maintenance via telomerase|IDA',NULL,NULL,NULL,NULL,NULL),(141457,'Experimental MF/BP Leaf Term GOA',NULL,20145,NULL,'GO:0034260|P:negative regulation of GTPase activity|IDA; GO:2000502|P:negative regulation of natural killer cell chemotaxis|IDA',NULL,NULL,NULL,NULL,NULL),(141458,'Experimental MF/BP Leaf Term GOA',NULL,20147,NULL,'GO:0005524|F:ATP binding|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0050702|P:interleukin-1 beta secretion|IDA',NULL,NULL,NULL,NULL,NULL),(141459,'Experimental MF/BP Leaf Term GOA',NULL,20148,NULL,'GO:0004515|F:nicotinate-nucleotide adenylyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141460,'Experimental MF/BP Leaf Term GOA',NULL,20152,NULL,'GO:0000340|F:RNA 7-methylguanosine cap binding|IDA; GO:0045292|P:mRNA cis splicing, via spliceosome|IDA; GO:0098789|P:pre-mRNA cleavage required for polyadenylation|IMP',NULL,NULL,NULL,NULL,NULL),(141461,'Experimental MF/BP Leaf Term GOA',NULL,20156,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141462,'Experimental MF/BP Leaf Term GOA',NULL,20157,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141463,'Experimental MF/BP Leaf Term GOA',NULL,20158,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141464,'Experimental MF/BP Leaf Term GOA',NULL,20160,NULL,'GO:0039706|F:co-receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(141465,'Experimental MF/BP Leaf Term GOA',NULL,20161,NULL,'GO:0008307|F:structural constituent of muscle|IMP',NULL,NULL,NULL,NULL,NULL),(141466,'Experimental MF/BP Leaf Term GOA',NULL,20168,NULL,'GO:0001968|F:fibronectin binding|IPI; GO:0005109|F:frizzled binding|IPI; GO:0035024|P:negative regulation of Rho protein signal transduction|IDA; GO:0051497|P:negative regulation of stress fiber assembly|IDA; GO:0038031|P:non-canonical Wnt signaling pathway via JNK cascade|IMP; GO:0001649|P:osteoblast differentiation|IDA; GO:0051894|P:positive regulation of focal adhesion assembly|IDA; GO:0051901|P:positive regulation of mitochondrial depolarization|IDA; GO:0014068|P:positive regulation of phosphatidylinositol 3-kinase signaling|IDA; GO:0051897|P:positive regulation of protein kinase B signaling|IDA; GO:0051496|P:positive regulation of stress fiber assembly|IDA; GO:1900026|P:positive regulation of substrate adhesion-dependent cell spreading|IDA',NULL,NULL,NULL,NULL,NULL),(141467,'Experimental MF/BP Leaf Term GOA',NULL,20170,NULL,'GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(141468,'Experimental MF/BP Leaf Term GOA',NULL,20172,NULL,'GO:0004042|F:acetyl-CoA:L-glutamate N-acetyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141469,'Experimental MF/BP Leaf Term GOA',NULL,20178,NULL,'GO:0004163|F:diphosphomevalonate decarboxylase activity|IDA; GO:0030544|F:Hsp70 protein binding|IPI; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(141470,'Experimental MF/BP Leaf Term GOA',NULL,20181,NULL,'GO:0005524|F:ATP binding|IMP; GO:0030049|P:muscle filament sliding|IMP',NULL,NULL,NULL,NULL,NULL),(141471,'Experimental MF/BP Leaf Term GOA',NULL,20182,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IMP; GO:0070888|F:E-box binding|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0071456|P:cellular response to hypoxia|IDA; GO:0070371|P:ERK1 and ERK2 cascade|IDA; GO:0045656|P:negative regulation of monocyte differentiation|IMP; GO:1905643|P:positive regulation of DNA methylation|IMP',NULL,NULL,NULL,NULL,NULL),(141472,'Experimental MF/BP Leaf Term GOA',NULL,20189,NULL,'GO:0030507|F:spectrin binding|IDA',NULL,NULL,NULL,NULL,NULL),(141473,'Experimental MF/BP Leaf Term GOA',NULL,20190,NULL,'GO:0048741|P:skeletal muscle fiber development|IMP',NULL,NULL,NULL,NULL,NULL),(141474,'Experimental MF/BP Leaf Term GOA',NULL,20192,NULL,'GO:0003951|F:NAD+ kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141475,'Experimental MF/BP Leaf Term GOA',NULL,20193,NULL,'GO:0003951|F:NAD+ kinase activity|IDA; GO:0042803|F:protein homodimerization activity|IDA',NULL,NULL,NULL,NULL,NULL),(141476,'Experimental MF/BP Leaf Term GOA',NULL,20196,NULL,'GO:0004741|F:[pyruvate dehydrogenase (lipoamide)] phosphatase activity|EXP; GO:0035970|P:peptidyl-threonine dephosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141477,'Experimental MF/BP Leaf Term GOA',NULL,20199,NULL,'GO:0071347|P:cellular response to interleukin-1|IMP; GO:0002528|P:regulation of vascular permeability involved in acute inflammatory response|IMP',NULL,NULL,NULL,NULL,NULL),(141478,'Experimental MF/BP Leaf Term GOA',NULL,20200,NULL,'GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(141479,'Experimental MF/BP Leaf Term GOA',NULL,20201,NULL,'GO:0015485|F:cholesterol binding|IDA',NULL,NULL,NULL,NULL,NULL),(141480,'Experimental MF/BP Leaf Term GOA',NULL,20202,NULL,'GO:1990189|F:peptide-serine-N-acetyltransferase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141481,'Experimental MF/BP Leaf Term GOA',NULL,20205,NULL,'GO:0005052|F:peroxisome matrix targeting signal-1 binding|IDA',NULL,NULL,NULL,NULL,NULL),(141482,'Experimental MF/BP Leaf Term GOA',NULL,20206,NULL,'GO:0008448|F:N-acetylglucosamine-6-phosphate deacetylase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141483,'Experimental MF/BP Leaf Term GOA',NULL,20208,NULL,'GO:0051770|P:positive regulation of nitric-oxide synthase biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(141484,'Experimental MF/BP Leaf Term GOA',NULL,20209,NULL,'GO:0019828|F:aspartic-type endopeptidase inhibitor activity|IDA; GO:0089720|F:caspase binding|IPI; GO:0071347|P:cellular response to interleukin-1|IEP; GO:0071222|P:cellular response to lipopolysaccharide|IEP; GO:1900016|P:negative regulation of cytokine production involved in inflammatory response|IMP; GO:0050713|P:negative regulation of interleukin-1 beta secretion|IMP',NULL,NULL,NULL,NULL,NULL),(141485,'Experimental MF/BP Leaf Term GOA',NULL,20211,NULL,'GO:0047198|F:cysteine-S-conjugate N-acetyltransferase activity|IDA; GO:0004468|F:lysine N-acetyltransferase activity, acting on acetyl phosphate as donor|IDA; GO:0018003|P:peptidyl-lysine N6-acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(141486,'Experimental MF/BP Leaf Term GOA',NULL,20212,NULL,'GO:0032266|F:phosphatidylinositol-3-phosphate binding|IDA; GO:0016176|F:superoxide-generating NADPH oxidase activator activity|IMP',NULL,NULL,NULL,NULL,NULL),(141487,'Experimental MF/BP Leaf Term GOA',NULL,20214,NULL,'GO:0004514|F:nicotinate-nucleotide diphosphorylase (carboxylating) activity|IDA; GO:0042803|F:protein homodimerization activity|IDA; GO:0034213|P:quinolinate catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141488,'Experimental MF/BP Leaf Term GOA',NULL,20216,NULL,'GO:0001714|P:endodermal cell fate specification|IDA',NULL,NULL,NULL,NULL,NULL),(141489,'Experimental MF/BP Leaf Term GOA',NULL,20217,NULL,'GO:0070290|F:N-acylphosphatidylethanolamine-specific phospholipase D activity|IDA; GO:0008270|F:zinc ion binding|IDA; GO:0070292|P:N-acylphosphatidylethanolamine metabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141490,'Experimental MF/BP Leaf Term GOA',NULL,20218,NULL,'GO:0008022|F:protein C-terminus binding|IPI',NULL,NULL,NULL,NULL,NULL),(141491,'Experimental MF/BP Leaf Term GOA',NULL,20221,NULL,'GO:0021987|P:cerebral cortex development|IMP',NULL,NULL,NULL,NULL,NULL),(141492,'Experimental MF/BP Leaf Term GOA',NULL,20222,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0005112|F:Notch binding|IPI; GO:0060766|P:negative regulation of androgen receptor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(141493,'Experimental MF/BP Leaf Term GOA',NULL,20223,NULL,'GO:1901612|F:cardiolipin binding|IDA; GO:0004550|F:nucleoside diphosphate kinase activity|EXP',NULL,NULL,NULL,NULL,NULL),(141494,'Experimental MF/BP Leaf Term GOA',NULL,20226,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141495,'Experimental MF/BP Leaf Term GOA',NULL,20227,NULL,'GO:0032407|F:MutSalpha complex binding|IDA; GO:0000701|F:purine-specific mismatch base pair DNA N-glycosylase activity|IMP',NULL,NULL,NULL,NULL,NULL),(141496,'Experimental MF/BP Leaf Term GOA',NULL,20228,NULL,'GO:0070584|P:mitochondrion morphogenesis|IMP; GO:0019228|P:neuronal action potential|IMP; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(141497,'Experimental MF/BP Leaf Term GOA',NULL,20229,NULL,'GO:0017196|P:N-terminal peptidyl-methionine acetylation|IDA',NULL,NULL,NULL,NULL,NULL),(141498,'Experimental MF/BP Leaf Term GOA',NULL,20233,NULL,'GO:0005052|F:peroxisome matrix targeting signal-1 binding|IDA; GO:0008022|F:protein C-terminus binding|IPI; GO:1901094|P:negative regulation of protein homotetramerization|IDA; GO:0016558|P:protein import into peroxisome matrix|IMP; GO:0016560|P:protein import into peroxisome matrix, docking|IDA; GO:0016561|P:protein import into peroxisome matrix, translocation|IDA; GO:0045046|P:protein import into peroxisome membrane|IMP',NULL,NULL,NULL,NULL,NULL),(141499,'Experimental MF/BP Leaf Term GOA',NULL,20235,NULL,'GO:0045127|F:N-acetylglucosamine kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141500,'Experimental MF/BP Leaf Term GOA',NULL,20238,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141501,'Experimental MF/BP Leaf Term GOA',NULL,20239,NULL,'GO:0008270|F:zinc ion binding|IDA',NULL,NULL,NULL,NULL,NULL),(141502,'Experimental MF/BP Leaf Term GOA',NULL,20242,NULL,'GO:0030898|F:actin-dependent ATPase activity|IDA; GO:0043531|F:ADP binding|IDA; GO:0005516|F:calmodulin binding|IDA; GO:0060002|F:plus-end directed microfilament motor activity|IDA; GO:0007605|P:sensory perception of sound|IMP',NULL,NULL,NULL,NULL,NULL),(141503,'Experimental MF/BP Leaf Term GOA',NULL,20243,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:1900222|P:negative regulation of amyloid-beta clearance|IMP; GO:0003257|P:positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|IDA; GO:2000721|P:positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation|IDA',NULL,NULL,NULL,NULL,NULL),(141504,'Experimental MF/BP Leaf Term GOA',NULL,20245,NULL,'GO:1904970|P:brush border assembly|IPI',NULL,NULL,NULL,NULL,NULL),(141505,'Experimental MF/BP Leaf Term GOA',NULL,20248,NULL,'GO:0051373|F:FATZ binding|IDA',NULL,NULL,NULL,NULL,NULL),(141506,'Experimental MF/BP Leaf Term GOA',NULL,20250,NULL,'GO:0004843|F:thiol-dependent ubiquitin-specific protease activity|IDA; GO:0035522|P:monoubiquitinated histone H2A deubiquitination|IMP',NULL,NULL,NULL,NULL,NULL),(141507,'Experimental MF/BP Leaf Term GOA',NULL,20252,NULL,'GO:1902037|P:negative regulation of hematopoietic stem cell differentiation|IMP; GO:1902035|P:positive regulation of hematopoietic stem cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(141508,'Experimental MF/BP Leaf Term GOA',NULL,20253,NULL,'GO:0042826|F:histone deacetylase binding|IPI; GO:0042803|F:protein homodimerization activity|IDA; GO:0001078|F:proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|IDA; GO:1900477|P:negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter|IDA',NULL,NULL,NULL,NULL,NULL),(141509,'Experimental MF/BP Leaf Term GOA',NULL,20257,NULL,'GO:0017025|F:TBP-class protein binding|IDA',NULL,NULL,NULL,NULL,NULL),(141510,'Experimental MF/BP Leaf Term GOA',NULL,20259,NULL,'GO:0000340|F:RNA 7-methylguanosine cap binding|IMP; GO:0006370|P:7-methylguanosine mRNA capping|IDA; GO:0098789|P:pre-mRNA cleavage required for polyadenylation|IMP',NULL,NULL,NULL,NULL,NULL),(141511,'Experimental MF/BP Leaf Term GOA',NULL,20260,NULL,'GO:2000601|P:positive regulation of Arp2/3 complex-mediated actin nucleation|IDA; GO:0010592|P:positive regulation of lamellipodium assembly|IMP; GO:0016601|P:Rac protein signal transduction|IDA',NULL,NULL,NULL,NULL,NULL),(141512,'Experimental MF/BP Leaf Term GOA',NULL,20261,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141513,'Experimental MF/BP Leaf Term GOA',NULL,20262,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141514,'Experimental MF/BP Leaf Term GOA',NULL,20263,NULL,'GO:0042775|P:mitochondrial ATP synthesis coupled electron transport|IMP',NULL,NULL,NULL,NULL,NULL),(141515,'Experimental MF/BP Leaf Term GOA',NULL,20265,NULL,'GO:0008137|F:NADH dehydrogenase (ubiquinone) activity|IMP; GO:0006120|P:mitochondrial electron transport, NADH to ubiquinone|IMP; GO:0007399|P:nervous system development|IMP',NULL,NULL,NULL,NULL,NULL),(141516,'Experimental MF/BP Leaf Term GOA',NULL,20269,NULL,'GO:0005109|F:frizzled binding|IPI; GO:0042803|F:protein homodimerization activity|IPI',NULL,NULL,NULL,NULL,NULL),(141517,'Experimental MF/BP Leaf Term GOA',NULL,20270,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141518,'Experimental MF/BP Leaf Term GOA',NULL,20271,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141519,'Experimental MF/BP Leaf Term GOA',NULL,20272,NULL,'GO:0015016|F:[heparan sulfate]-glucosamine N-sulfotransferase activity|IDA; GO:0042328|F:heparan sulfate N-acetylglucosaminyltransferase activity|IDA; GO:0015012|P:heparan sulfate proteoglycan biosynthetic process|IDA; GO:0015014|P:heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(141520,'Experimental MF/BP Leaf Term GOA',NULL,20273,NULL,'GO:0004252|F:serine-type endopeptidase activity|IDA; GO:0030070|P:insulin processing|IDA',NULL,NULL,NULL,NULL,NULL),(141521,'Experimental MF/BP Leaf Term GOA',NULL,20274,NULL,'GO:2000312|P:regulation of kainate selective glutamate receptor activity|IDA',NULL,NULL,NULL,NULL,NULL),(141522,'Experimental MF/BP Leaf Term GOA',NULL,20275,NULL,'GO:0001227|F:DNA-binding transcription repressor activity, RNA polymerase II-specific|IGI; GO:1902894|P:negative regulation of pri-miRNA transcription by RNA polymerase II|IGI',NULL,NULL,NULL,NULL,NULL),(141523,'Experimental MF/BP Leaf Term GOA',NULL,20277,NULL,'GO:0008656|F:cysteine-type endopeptidase activator activity involved in apoptotic process|IGI; GO:0038177|F:death receptor agonist activity|IGI; GO:0008191|F:metalloendopeptidase inhibitor activity|IDA; GO:0005163|F:nerve growth factor receptor binding|IPI',NULL,NULL,NULL,NULL,NULL),(141524,'Experimental MF/BP Leaf Term GOA',NULL,20283,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141525,'Experimental MF/BP Leaf Term GOA',NULL,20284,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141526,'Experimental MF/BP Leaf Term GOA',NULL,20288,NULL,'GO:0042775|P:mitochondrial ATP synthesis coupled electron transport|IMP',NULL,NULL,NULL,NULL,NULL),(141527,'Experimental MF/BP Leaf Term GOA',NULL,20289,NULL,'GO:1900364|P:negative regulation of mRNA polyadenylation|IMP',NULL,NULL,NULL,NULL,NULL),(141528,'Experimental MF/BP Leaf Term GOA',NULL,20290,NULL,'GO:0033173|P:calcineurin-NFAT signaling cascade|IDA',NULL,NULL,NULL,NULL,NULL),(141529,'Experimental MF/BP Leaf Term GOA',NULL,20291,NULL,'GO:0006689|P:ganglioside catabolic process|IDA',NULL,NULL,NULL,NULL,NULL),(141530,'Experimental MF/BP Leaf Term GOA',NULL,20292,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141531,'Experimental MF/BP Leaf Term GOA',NULL,20293,NULL,'GO:0019797|F:procollagen-proline 3-dioxygenase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141532,'Experimental MF/BP Leaf Term GOA',NULL,20296,NULL,'GO:0034642|P:mitochondrion migration along actin filament|IDA',NULL,NULL,NULL,NULL,NULL),(141533,'Experimental MF/BP Leaf Term GOA',NULL,20300,NULL,'GO:0008307|F:structural constituent of muscle|IDA',NULL,NULL,NULL,NULL,NULL),(141534,'Experimental MF/BP Leaf Term GOA',NULL,20301,NULL,'GO:0043531|F:ADP binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0005516|F:calmodulin binding|IDA; GO:0005096|F:GTPase activator activity|IDA; GO:0048495|F:Roundabout binding|IPI',NULL,NULL,NULL,NULL,NULL),(141535,'Experimental MF/BP Leaf Term GOA',NULL,20307,NULL,'GO:0052858|F:peptidyl-lysine acetyltransferase activity|IDA; GO:0034087|P:establishment of mitotic sister chromatid cohesion|IDA; GO:0071962|P:mitotic sister chromatid cohesion, centromeric|IDA',NULL,NULL,NULL,NULL,NULL),(141536,'Experimental MF/BP Leaf Term GOA',NULL,20309,NULL,'GO:0001784|F:phosphotyrosine residue binding|IPI; GO:1903912|P:negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141537,'Experimental MF/BP Leaf Term GOA',NULL,20313,NULL,'GO:0008273|F:calcium, potassium:sodium antiporter activity|IDA',NULL,NULL,NULL,NULL,NULL),(141538,'Experimental MF/BP Leaf Term GOA',NULL,20315,NULL,'GO:0004550|F:nucleoside diphosphate kinase activity|IDA',NULL,NULL,NULL,NULL,NULL),(141539,'Experimental MF/BP Leaf Term GOA',NULL,20317,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141540,'Experimental MF/BP Leaf Term GOA',NULL,20318,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141541,'Experimental MF/BP Leaf Term GOA',NULL,20319,NULL,'GO:0015016|F:[heparan sulfate]-glucosamine N-sulfotransferase activity|IDA; GO:0042328|F:heparan sulfate N-acetylglucosaminyltransferase activity|IDA; GO:0015012|P:heparan sulfate proteoglycan biosynthetic process|IDA; GO:0015014|P:heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|IDA',NULL,NULL,NULL,NULL,NULL),(141542,'Experimental MF/BP Leaf Term GOA',NULL,20320,NULL,'GO:0032981|P:mitochondrial respiratory chain complex I assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141543,'Experimental MF/BP Leaf Term GOA',NULL,20321,NULL,'GO:0033689|P:negative regulation of osteoblast proliferation|IDA',NULL,NULL,NULL,NULL,NULL),(141544,'Experimental MF/BP Leaf Term GOA',NULL,20324,NULL,'GO:0000086|P:G2/M transition of mitotic cell cycle|IDA',NULL,NULL,NULL,NULL,NULL),(141545,'Experimental MF/BP Leaf Term GOA',NULL,20327,NULL,'GO:0008022|F:protein C-terminus binding|IPI; GO:0033693|P:neurofilament bundle assembly|IDA',NULL,NULL,NULL,NULL,NULL),(141546,'Experimental MF/BP Leaf Term GOA',NULL,20328,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:1902894|P:negative regulation of pri-miRNA transcription by RNA polymerase II|IMP',NULL,NULL,NULL,NULL,NULL),(141547,'Experimental MF/BP Leaf Term GOA',NULL,20332,NULL,'GO:0008201|F:heparin binding|IDA',NULL,NULL,NULL,NULL,NULL),(141548,'Experimental MF/BP Leaf Term GOA',NULL,20338,NULL,'GO:1901874|P:negative regulation of post-translational protein modification|IMP; GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(141549,'Experimental MF/BP Leaf Term GOA',NULL,20340,NULL,'GO:0019509|P:L-methionine salvage from methylthioadenosine|IDA',NULL,NULL,NULL,NULL,NULL),(141550,'Experimental MF/BP Leaf Term GOA',NULL,20342,NULL,'GO:0042803|F:protein homodimerization activity|IDA; GO:0031532|P:actin cytoskeleton reorganization|IDA',NULL,NULL,NULL,NULL,NULL),(141551,'Experimental MF/BP Leaf Term GOA',NULL,20344,NULL,'GO:0001077|F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141552,'Experimental MF/BP Leaf Term GOA',NULL,20347,NULL,'GO:0005516|F:calmodulin binding|IDA',NULL,NULL,NULL,NULL,NULL),(141553,'Experimental MF/BP Leaf Term GOA',NULL,20349,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA',NULL,NULL,NULL,NULL,NULL),(141554,'Experimental MF/BP Leaf Term GOA',NULL,20352,NULL,'GO:0071889|F:14-3-3 protein binding|IDA; GO:0007098|P:centrosome cycle|IMP; GO:0035508|P:positive regulation of myosin-light-chain-phosphatase activity|IMP',NULL,NULL,NULL,NULL,NULL),(141555,'Experimental MF/BP Leaf Term GOA',NULL,20354,NULL,'GO:0001228|F:DNA-binding transcription activator activity, RNA polymerase II-specific|IDA; GO:1901741|P:positive regulation of myoblast fusion|IDA',NULL,NULL,NULL,NULL,NULL),(141556,'Experimental MF/BP Leaf Term GOA',NULL,20355,NULL,'GO:0030792|F:methylarsonite methyltransferase activity|IDA; GO:0009007|F:site-specific DNA-methyltransferase (adenine-specific) activity|IDA; GO:0032775|P:DNA methylation on adenine|IDA',NULL,NULL,NULL,NULL,NULL),(141557,'Experimental MF/BP Leaf Term GOA',NULL,20356,NULL,'GO:0050821|P:protein stabilization|IMP',NULL,NULL,NULL,NULL,NULL),(141558,'Experimental MF/BP Leaf Term GOA',NULL,20357,NULL,'GO:0001156|F:TFIIIC-class transcription factor complex binding|IDA; GO:0071233|P:cellular response to leucine|IDA; GO:1990253|P:cellular response to leucine starvation|IDA; GO:0051549|P:positive regulation of keratinocyte migration|IMP; GO:0045945|P:positive regulation of transcription by RNA polymerase III|IMP; GO:1901838|P:positive regulation of transcription of nucleolar large rRNA by RNA polymerase I|IMP; GO:1903691|P:positive regulation of wound healing, spreading of epidermal cells|IMP',NULL,NULL,NULL,NULL,NULL),(141559,'Experimental MF/BP Leaf Term GOA',NULL,20358,NULL,'GO:0048257|F:3\'-flap endonuclease activity|IMP; GO:0072429|P:response to intra-S DNA damage checkpoint signaling|IMP',NULL,NULL,NULL,NULL,NULL),(141560,'Experimental MF/BP Leaf Term GOA',NULL,20359,NULL,'GO:0051087|F:chaperone binding|IPI; GO:0090091|P:positive regulation of extracellular matrix disassembly|IDA',NULL,NULL,NULL,NULL,NULL),(141561,'Experimental MF/BP Leaf Term GOA',NULL,20364,NULL,'GO:0003785|F:actin monomer binding|IDA; GO:0060048|P:cardiac muscle contraction|IMP',NULL,NULL,NULL,NULL,NULL),(141562,'Experimental MF/BP Leaf Term GOA',NULL,20368,NULL,'GO:0008307|F:structural constituent of muscle|IMP; GO:0003007|P:heart morphogenesis|IMP',NULL,NULL,NULL,NULL,NULL),(141563,'Experimental MF/BP Leaf Term GOA',NULL,20369,NULL,'GO:0010737|P:protein kinase A signaling|IMP',NULL,NULL,NULL,NULL,NULL),(141564,'Experimental MF/BP Leaf Term GOA',NULL,20372,NULL,'GO:0004430|F:1-phosphatidylinositol 4-kinase activity|IDA; GO:0035651|F:AP-3 adaptor complex binding|IDA; GO:0005524|F:ATP binding|IDA; GO:0046854|P:phosphatidylinositol phosphorylation|IDA',NULL,NULL,NULL,NULL,NULL),(141565,'Experimental MF/BP Leaf Term GOA',NULL,20375,NULL,'GO:0004741|F:[pyruvate dehydrogenase (lipoamide)] phosphatase activity|EXP',NULL,NULL,NULL,NULL,NULL),(141566,'Experimental MF/BP Leaf Term GOA',NULL,20377,NULL,'GO:0043531|F:ADP binding|IDA; GO:0005524|F:ATP binding|IDA; GO:1903028|P:positive regulation of opsonization|IMP',NULL,NULL,NULL,NULL,NULL),(141567,'Experimental MF/BP Leaf Term GOA',NULL,20381,NULL,'GO:0007399|P:nervous system development|IMP',NULL,NULL,NULL,NULL,NULL),(141568,'Experimental MF/BP Leaf Term GOA',NULL,20384,NULL,'GO:0007283|P:spermatogenesis|IEP',NULL,NULL,NULL,NULL,NULL),(141569,'Experimental MF/BP Leaf Term GOA',NULL,20385,NULL,'GO:1900748|P:positive regulation of vascular endothelial growth factor signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(141570,'Experimental MF/BP Leaf Term GOA',NULL,20386,NULL,'GO:0003785|F:actin monomer binding|IDA; GO:0060048|P:cardiac muscle contraction|IMP',NULL,NULL,NULL,NULL,NULL),(141571,'Experimental MF/BP Leaf Term GOA',NULL,20387,NULL,'GO:0004687|F:myosin light chain kinase activity|IDA; GO:0060414|P:aorta smooth muscle tissue morphogenesis|IMP; GO:0032060|P:bleb assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141572,'Experimental MF/BP Leaf Term GOA',NULL,20392,NULL,'GO:0004676|F:3-phosphoinositide-dependent protein kinase activity|IDA; GO:0043274|F:phospholipase binding|IPI; GO:0032148|P:activation of protein kinase B activity|IDA; GO:0071364|P:cellular response to epidermal growth factor stimulus|IMP; GO:0032869|P:cellular response to insulin stimulus|IMP; GO:2000352|P:negative regulation of endothelial cell apoptotic process|IMP; GO:1905564|P:positive regulation of vascular endothelial cell proliferation|IMP',NULL,NULL,NULL,NULL,NULL),(141573,'Experimental MF/BP Leaf Term GOA',NULL,20397,NULL,'GO:0070976|F:TIR domain binding|IPI; GO:0070935|P:3\'-UTR-mediated mRNA stabilization|IDA; GO:0071260|P:cellular response to mechanical stimulus|IEP; GO:1900017|P:positive regulation of cytokine production involved in inflammatory response|IMP; GO:0060337|P:type I interferon signaling pathway|IMP',NULL,NULL,NULL,NULL,NULL),(141574,'Experimental MF/BP Leaf Term GOA',NULL,20399,NULL,'GO:0005525|F:GTP binding|IMP',NULL,NULL,NULL,NULL,NULL),(141575,'Experimental MF/BP Leaf Term GOA',NULL,20400,NULL,'GO:0008307|F:structural constituent of muscle|IMP; GO:0048739|P:cardiac muscle fiber development|IMP; GO:0048251|P:elastic fiber assembly|IMP',NULL,NULL,NULL,NULL,NULL),(141576,'Experimental MF/BP Leaf Term GOA',NULL,20402,NULL,'GO:0005524|F:ATP binding|IMP',NULL,NULL,NULL,NULL,NULL),(141577,'Experimental MF/BP Leaf Term GOA',NULL,20410,NULL,'GO:0046982|F:protein heterodimerization activity|IPI; GO:0071157|P:negative regulation of cell cycle arrest|IMP',NULL,NULL,NULL,NULL,NULL),(141578,'PubTator Score',NULL,1,NULL,NULL,89.876621,NULL,NULL,NULL,NULL),(141579,'PubTator Score',NULL,3,NULL,NULL,0.833333,NULL,NULL,NULL,NULL),(141580,'PubTator Score',NULL,4,NULL,NULL,9.710851,NULL,NULL,NULL,NULL),(141581,'PubTator Score',NULL,6,NULL,NULL,82.466665,NULL,NULL,NULL,NULL),(141582,'PubTator Score',NULL,7,NULL,NULL,6.400000,NULL,NULL,NULL,NULL),(141583,'PubTator Score',NULL,8,NULL,NULL,650.260944,NULL,NULL,NULL,NULL),(141584,'PubTator Score',NULL,9,NULL,NULL,3.146464,NULL,NULL,NULL,NULL),(141585,'PubTator Score',NULL,10,NULL,NULL,1.201681,NULL,NULL,NULL,NULL),(141586,'PubTator Score',NULL,11,NULL,NULL,0.142857,NULL,NULL,NULL,NULL),(141587,'PubTator Score',NULL,12,NULL,NULL,1.111111,NULL,NULL,NULL,NULL),(141588,'PubTator Score',NULL,13,NULL,NULL,7.326190,NULL,NULL,NULL,NULL),(141589,'PubTator Score',NULL,14,NULL,NULL,13.585255,NULL,NULL,NULL,NULL),(141590,'PubTator Score',NULL,15,NULL,NULL,106.948635,NULL,NULL,NULL,NULL),(141591,'PubTator Score',NULL,16,NULL,NULL,265.150319,NULL,NULL,NULL,NULL),(141592,'PubTator Score',NULL,17,NULL,NULL,6.833766,NULL,NULL,NULL,NULL),(141593,'PubTator Score',NULL,18,NULL,NULL,3.825000,NULL,NULL,NULL,NULL),(141594,'PubTator Score',NULL,19,NULL,NULL,2.837301,NULL,NULL,NULL,NULL),(141595,'PubTator Score',NULL,20,NULL,NULL,19.035562,NULL,NULL,NULL,NULL),(141596,'PubTator Score',NULL,21,NULL,NULL,6.936111,NULL,NULL,NULL,NULL),(141597,'PubTator Score',NULL,22,NULL,NULL,2.666666,NULL,NULL,NULL,NULL),(141598,'PubTator Score',NULL,23,NULL,NULL,0.539286,NULL,NULL,NULL,NULL),(141599,'PubTator Score',NULL,24,NULL,NULL,6.949242,NULL,NULL,NULL,NULL),(141600,'PubTator Score',NULL,25,NULL,NULL,151.620992,NULL,NULL,NULL,NULL),(141601,'PubTator Score',NULL,26,NULL,NULL,5.825490,NULL,NULL,NULL,NULL),(141602,'PubTator Score',NULL,27,NULL,NULL,46.202257,NULL,NULL,NULL,NULL),(141603,'PubTator Score',NULL,28,NULL,NULL,15.716667,NULL,NULL,NULL,NULL),(141604,'PubTator Score',NULL,32,NULL,NULL,154.134329,NULL,NULL,NULL,NULL),(141605,'PubTator Score',NULL,33,NULL,NULL,41434.167516,NULL,NULL,NULL,NULL),(141606,'PubTator Score',NULL,34,NULL,NULL,18.588656,NULL,NULL,NULL,NULL),(141607,'PubTator Score',NULL,35,NULL,NULL,304.176488,NULL,NULL,NULL,NULL),(141608,'PubTator Score',NULL,36,NULL,NULL,737.467682,NULL,NULL,NULL,NULL),(141609,'PubTator Score',NULL,37,NULL,NULL,144.519368,NULL,NULL,NULL,NULL),(141610,'PubTator Score',NULL,38,NULL,NULL,13.976984,NULL,NULL,NULL,NULL),(141611,'PubTator Score',NULL,40,NULL,NULL,417.205257,NULL,NULL,NULL,NULL),(141612,'PubTator Score',NULL,41,NULL,NULL,5.834524,NULL,NULL,NULL,NULL),(141613,'PubTator Score',NULL,42,NULL,NULL,739.284005,NULL,NULL,NULL,NULL),(141614,'PubTator Score',NULL,43,NULL,NULL,3.735714,NULL,NULL,NULL,NULL),(141615,'PubTator Score',NULL,44,NULL,NULL,3.233333,NULL,NULL,NULL,NULL),(141616,'PubTator Score',NULL,45,NULL,NULL,32.405987,NULL,NULL,NULL,NULL),(141617,'PubTator Score',NULL,46,NULL,NULL,663.565966,NULL,NULL,NULL,NULL),(141618,'PubTator Score',NULL,47,NULL,NULL,37.341586,NULL,NULL,NULL,NULL),(141619,'PubTator Score',NULL,51,NULL,NULL,167.424303,NULL,NULL,NULL,NULL),(141620,'PubTator Score',NULL,52,NULL,NULL,415.945907,NULL,NULL,NULL,NULL),(141621,'PubTator Score',NULL,53,NULL,NULL,1776.348140,NULL,NULL,NULL,NULL),(141622,'PubTator Score',NULL,54,NULL,NULL,16.739681,NULL,NULL,NULL,NULL),(141623,'PubTator Score',NULL,55,NULL,NULL,884.880682,NULL,NULL,NULL,NULL),(141624,'PubTator Score',NULL,56,NULL,NULL,1080.039542,NULL,NULL,NULL,NULL),(141625,'PubTator Score',NULL,57,NULL,NULL,172.166143,NULL,NULL,NULL,NULL),(141626,'PubTator 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Prediction',NULL,20054,NULL,'20054|NDUA1_HUMAN	len=70	ExpAA=22.45	First60=22.45	PredHel=1	Topology=o5-27i\n',NULL,NULL,NULL,NULL,NULL),(222983,'TMHMM Prediction',NULL,20055,NULL,'20055|NDUAD_HUMAN	len=144	ExpAA=21.92	First60=21.92	PredHel=1	Topology=i29-51o\n',NULL,NULL,NULL,NULL,NULL),(222984,'TMHMM Prediction',NULL,20058,NULL,'20058|NEUR1_HUMAN	len=415	ExpAA=22.98	First60=22.42	PredHel=1	Topology=i20-42o\n',NULL,NULL,NULL,NULL,NULL),(222985,'TMHMM Prediction',NULL,20059,NULL,'20059|NEMP1_HUMAN	len=444	ExpAA=116.69	First60=10.24	PredHel=5	Topology=o163-180i185-207o217-236i249-271o286-308i\n',NULL,NULL,NULL,NULL,NULL),(222986,'TMHMM Prediction',NULL,20065,NULL,'20065|NKG2E_HUMAN	len=240	ExpAA=20.60	First60=0.00	PredHel=1	Topology=o75-97i\n',NULL,NULL,NULL,NULL,NULL),(222987,'TMHMM Prediction',NULL,20066,NULL,'20066|NKG2F_HUMAN	len=158	ExpAA=22.07	First60=0.00	PredHel=1	Topology=o78-100i\n',NULL,NULL,NULL,NULL,NULL),(222988,'TMHMM Prediction',NULL,20067,NULL,'20067|NKAI4_HUMAN	len=208	ExpAA=68.84	First60=34.49	PredHel=2	Topology=o30-52i64-86o\n',NULL,NULL,NULL,NULL,NULL),(222989,'TMHMM Prediction',NULL,20068,NULL,'20068|NKPD1_HUMAN	len=610	ExpAA=59.71	First60=3.35	PredHel=2	Topology=i118-140o155-177i\n',NULL,NULL,NULL,NULL,NULL),(222990,'TMHMM Prediction',NULL,20075,NULL,'20075|NMUR1_HUMAN	len=426	ExpAA=153.42	First60=0.45	PredHel=7	Topology=o63-85i97-119o139-161i181-203o234-256i299-321o336-358i\n',NULL,NULL,NULL,NULL,NULL),(222991,'TMHMM Prediction',NULL,20076,NULL,'20076|NNAT_HUMAN	len=81	ExpAA=22.50	First60=22.50	PredHel=1	Topology=i13-35o\n',NULL,NULL,NULL,NULL,NULL),(222992,'TMHMM Prediction',NULL,20077,NULL,'20077|NMDE3_HUMAN	len=1233	ExpAA=88.15	First60=1.36	PredHel=4	Topology=o552-574i595-617o627-649i816-835o\n',NULL,NULL,NULL,NULL,NULL),(222993,'TMHMM Prediction',NULL,20078,NULL,'20078|NMDE4_HUMAN	len=1336	ExpAA=86.82	First60=0.02	PredHel=4	Topology=o586-608i621-643o658-680i846-865o\n',NULL,NULL,NULL,NULL,NULL),(222994,'TMHMM Prediction',NULL,20080,NULL,'20080|NAT8L_HUMAN	len=302	ExpAA=30.52	First60=0.03	PredHel=1	Topology=i119-141o\n',NULL,NULL,NULL,NULL,NULL),(222995,'TMHMM Prediction',NULL,20092,NULL,'20092|NHLC3_HUMAN	len=347	ExpAA=20.81	First60=20.01	PredHel=1	Topology=i5-24o\n',NULL,NULL,NULL,NULL,NULL),(222996,'TMHMM Prediction',NULL,20095,NULL,'20095|NKG2C_HUMAN	len=231	ExpAA=21.28	First60=0.00	PredHel=1	Topology=o75-97i\n',NULL,NULL,NULL,NULL,NULL),(222997,'TMHMM Prediction',NULL,20098,NULL,'20098|NKAI1_HUMAN	len=207	ExpAA=74.77	First60=30.57	PredHel=3	Topology=o33-55i62-84o150-172i\n',NULL,NULL,NULL,NULL,NULL),(222998,'TMHMM Prediction',NULL,20105,NULL,'20105|NMES1_HUMAN	len=83	ExpAA=22.57	First60=22.57	PredHel=1	Topology=i13-35o\n',NULL,NULL,NULL,NULL,NULL),(222999,'TMHMM Prediction',NULL,20113,NULL,'20113|NKG7_HUMAN	len=165	ExpAA=90.60	First60=24.19	PredHel=4	Topology=i7-29o63-85i92-114o129-151i\n',NULL,NULL,NULL,NULL,NULL),(223000,'TMHMM Prediction',NULL,20115,NULL,'20115|NLGN2_HUMAN	len=835	ExpAA=22.47	First60=0.04	PredHel=1	Topology=o677-699i\n',NULL,NULL,NULL,NULL,NULL),(223001,'TMHMM Prediction',NULL,20116,NULL,'20116|NLGNY_HUMAN	len=816	ExpAA=46.04	First60=22.73	PredHel=2	Topology=i7-29o675-697i\n',NULL,NULL,NULL,NULL,NULL),(223002,'TMHMM Prediction',NULL,20117,NULL,'20117|NMB_HUMAN	len=121	ExpAA=21.24	First60=21.02	PredHel=1	Topology=i7-29o\n',NULL,NULL,NULL,NULL,NULL),(223003,'TMHMM Prediction',NULL,20118,NULL,'20118|NNRD_HUMAN	len=347	ExpAA=22.56	First60=22.50	PredHel=1	Topology=i7-29o\n',NULL,NULL,NULL,NULL,NULL),(223004,'TMHMM Prediction',NULL,20119,NULL,'20119|NLS1_HUMAN	len=543	ExpAA=240.02	First60=12.39	PredHel=11	Topology=i47-69o79-101i128-150o160-182i255-277o310-332i345-362o372-389i394-416o439-461i481-502o\n',NULL,NULL,NULL,NULL,NULL),(223005,'TMHMM Prediction',NULL,20131,NULL,'20131|NCAM1_HUMAN	len=858	ExpAA=31.53	First60=8.30	PredHel=1	Topology=o724-746i\n',NULL,NULL,NULL,NULL,NULL),(223006,'TMHMM Prediction',NULL,20134,NULL,'20134|NCEH1_HUMAN	len=408	ExpAA=30.26	First60=26.55	PredHel=1	Topology=i5-27o\n',NULL,NULL,NULL,NULL,NULL),(223007,'TMHMM Prediction',NULL,20138,NULL,'20138|NET4_HUMAN	len=628	ExpAA=18.95	First60=18.95	PredHel=1	Topology=i7-26o\n',NULL,NULL,NULL,NULL,NULL),(223008,'TMHMM Prediction',NULL,20142,NULL,'20142|NINJ1_HUMAN	len=152	ExpAA=45.73	First60=0.04	PredHel=2	Topology=o82-104i117-139o\n',NULL,NULL,NULL,NULL,NULL),(223009,'TMHMM Prediction',NULL,20143,NULL,'20143|NINJ2_HUMAN	len=142	ExpAA=44.47	First60=0.29	PredHel=2	Topology=o66-88i109-128o\n',NULL,NULL,NULL,NULL,NULL),(223010,'TMHMM Prediction',NULL,20145,NULL,'20145|NKG2D_HUMAN	len=216	ExpAA=22.95	First60=8.35	PredHel=1	Topology=i52-74o\n',NULL,NULL,NULL,NULL,NULL),(223011,'TMHMM Prediction',NULL,20146,NULL,'20146|NKAI3_HUMAN	len=197	ExpAA=70.60	First60=26.25	PredHel=3	Topology=o30-52i64-86o148-170i\n',NULL,NULL,NULL,NULL,NULL),(223012,'TMHMM Prediction',NULL,20157,NULL,'20157|NDUAB_HUMAN	len=141	ExpAA=61.04	First60=18.97	PredHel=4	Topology=i21-43o58-80i87-104o108-125i\n',NULL,NULL,NULL,NULL,NULL),(223013,'TMHMM Prediction',NULL,20160,NULL,'20160|NEO1_HUMAN	len=1461	ExpAA=23.09	First60=0.23	PredHel=1	Topology=o1105-1127i\n',NULL,NULL,NULL,NULL,NULL),(223014,'TMHMM Prediction',NULL,20162,NULL,'20162|NEUFC_HUMAN	len=264	ExpAA=21.93	First60=21.93	PredHel=1	Topology=i7-29o\n',NULL,NULL,NULL,NULL,NULL),(223015,'TMHMM Prediction',NULL,20163,NULL,'20163|NFASC_HUMAN	len=1347	ExpAA=31.35	First60=8.61	PredHel=1	Topology=o1216-1238i\n',NULL,NULL,NULL,NULL,NULL),(223016,'TMHMM Prediction',NULL,20165,NULL,'20165|MUSK_HUMAN	len=869	ExpAA=40.42	First60=0.10	PredHel=2	Topology=o496-518i638-660o\n',NULL,NULL,NULL,NULL,NULL),(223017,'TMHMM Prediction',NULL,20173,NULL,'20173|NC301_HUMAN	len=95	ExpAA=23.33	First60=23.33	PredHel=1	Topology=o15-37i\n',NULL,NULL,NULL,NULL,NULL),(223018,'TMHMM Prediction',NULL,20174,NULL,'20174|NCAM2_HUMAN	len=837	ExpAA=24.30	First60=1.61	PredHel=1	Topology=o696-718i\n',NULL,NULL,NULL,NULL,NULL),(223019,'TMHMM Prediction',NULL,20190,NULL,'20190|MYORG_HUMAN	len=714	ExpAA=28.33	First60=5.88	PredHel=1	Topology=i57-79o\n',NULL,NULL,NULL,NULL,NULL),(223020,'TMHMM Prediction',NULL,20195,NULL,'20195|NALCN_HUMAN	len=1738	ExpAA=422.99	First60=20.26	PredHel=19	Topology=i39-61o66-88i107-129o139-158i178-200o300-322i383-405o420-442i506-528o577-599i881-903o948-970i1017-1039o1134-1156i1210-1227o1237-1254i1278-1300o1336-1358i1424-1446o\n',NULL,NULL,NULL,NULL,NULL),(223021,'TMHMM Prediction',NULL,20204,NULL,'20204|NAAA_HUMAN	len=359	ExpAA=21.90	First60=15.45	PredHel=1	Topology=i12-34o\n',NULL,NULL,NULL,NULL,NULL),(223022,'TMHMM Prediction',NULL,20211,NULL,'20211|NAT8_HUMAN	len=227	ExpAA=29.94	First60=16.74	PredHel=1	Topology=i43-65o\n',NULL,NULL,NULL,NULL,NULL),(223023,'TMHMM Prediction',NULL,20234,NULL,'20234|NAGPA_HUMAN	len=515	ExpAA=23.56	First60=0.57	PredHel=1	Topology=o450-472i\n',NULL,NULL,NULL,NULL,NULL),(223024,'TMHMM Prediction',NULL,20237,NULL,'20237|MYCT_HUMAN	len=648	ExpAA=256.10	First60=0.00	PredHel=12	Topology=i80-102o122-144i149-168o174-196i208-230o240-259i325-347o362-384i393-415o507-529i542-564o569-591i\n',NULL,NULL,NULL,NULL,NULL),(223025,'TMHMM Prediction',NULL,20249,NULL,'20249|NAC3_HUMAN	len=927	ExpAA=229.98	First60=19.38	PredHel=11	Topology=i13-30o74-95i133-155o170-189i202-224o229-251i751-773o788-807i827-849o859-881i902-924o\n',NULL,NULL,NULL,NULL,NULL),(223026,'TMHMM Prediction',NULL,20261,NULL,'20261|NDUB8_HUMAN	len=186	ExpAA=21.51	First60=0.00	PredHel=1	Topology=i124-146o\n',NULL,NULL,NULL,NULL,NULL),(223027,'TMHMM Prediction',NULL,20266,NULL,'20266|NELL2_HUMAN	len=816	ExpAA=16.09	First60=16.09	PredHel=1	Topology=i5-24o\n',NULL,NULL,NULL,NULL,NULL),(223028,'TMHMM Prediction',NULL,20267,NULL,'20267|NCMAP_HUMAN	len=102	ExpAA=22.37	First60=22.37	PredHel=1	Topology=o29-51i\n',NULL,NULL,NULL,NULL,NULL),(223029,'TMHMM Prediction',NULL,20268,NULL,'20268|NCKX3_HUMAN	len=644	ExpAA=238.85	First60=21.48	PredHel=11	Topology=i21-43o109-128i149-171o181-203i210-232o242-261i478-500o510-532i545-567o582-601i614-636o\n',NULL,NULL,NULL,NULL,NULL),(223030,'TMHMM Prediction',NULL,20271,NULL,'20271|NDUA3_HUMAN	len=84	ExpAA=20.75	First60=20.75	PredHel=1	Topology=o20-39i\n',NULL,NULL,NULL,NULL,NULL),(223031,'TMHMM Prediction',NULL,20272,NULL,'20272|NDST3_HUMAN	len=873	ExpAA=22.62	First60=22.25	PredHel=1	Topology=i13-35o\n',NULL,NULL,NULL,NULL,NULL),(223032,'TMHMM Prediction',NULL,20274,NULL,'20274|NETO1_HUMAN	len=533	ExpAA=22.96	First60=0.57	PredHel=1	Topology=o343-365i\n',NULL,NULL,NULL,NULL,NULL),(223033,'TMHMM Prediction',NULL,20276,NULL,'20276|NFAM1_HUMAN	len=270	ExpAA=47.36	First60=19.07	PredHel=1	Topology=o164-186i\n',NULL,NULL,NULL,NULL,NULL),(223034,'TMHMM Prediction',NULL,20283,NULL,'20283|NDUB4_HUMAN	len=129	ExpAA=18.64	First60=0.00	PredHel=1	Topology=o88-105i\n',NULL,NULL,NULL,NULL,NULL),(223035,'TMHMM Prediction',NULL,20298,NULL,'20298|MYP0_HUMAN	len=248	ExpAA=39.64	First60=16.39	PredHel=1	Topology=o157-179i\n',NULL,NULL,NULL,NULL,NULL),(223036,'TMHMM Prediction',NULL,20299,NULL,'20299|MYOF_HUMAN	len=2061	ExpAA=22.91	First60=0.00	PredHel=1	Topology=o2026-2048i\n',NULL,NULL,NULL,NULL,NULL),(223037,'TMHMM Prediction',NULL,20302,NULL,'20302|MYMK_HUMAN	len=221	ExpAA=120.83	First60=35.78	PredHel=7	Topology=i7-26o36-58i65-83o93-110i115-134o149-171i178-195o\n',NULL,NULL,NULL,NULL,NULL),(223038,'TMHMM Prediction',NULL,20304,NULL,'20304|MYPR_HUMAN	len=277	ExpAA=92.21	First60=22.59	PredHel=4	Topology=o10-32i60-82o155-177i239-261o\n',NULL,NULL,NULL,NULL,NULL),(223039,'TMHMM Prediction',NULL,20308,NULL,'20308|NCHL1_HUMAN	len=1208	ExpAA=23.02	First60=0.33	PredHel=1	Topology=o1081-1103i\n',NULL,NULL,NULL,NULL,NULL),(223040,'TMHMM Prediction',NULL,20310,NULL,'20310|NCTR2_HUMAN	len=276	ExpAA=21.55	First60=0.09	PredHel=1	Topology=o193-215i\n',NULL,NULL,NULL,NULL,NULL),(223041,'TMHMM Prediction',NULL,20312,NULL,'20312|NCKX4_HUMAN	len=622	ExpAA=228.91	First60=22.35	PredHel=11	Topology=i23-45o99-118i139-161o171-193i200-222o226-245i455-477o487-509i522-544o559-578i591-613o\n',NULL,NULL,NULL,NULL,NULL),(223042,'TMHMM Prediction',NULL,20313,NULL,'20313|NCKX5_HUMAN	len=500	ExpAA=212.31	First60=3.13	PredHel=9	Topology=i67-86o137-159i172-191o196-218i332-354o369-391i403-425o438-460i467-489o\n',NULL,NULL,NULL,NULL,NULL),(223043,'TMHMM Prediction',NULL,20319,NULL,'20319|NDST1_HUMAN	len=882	ExpAA=22.08	First60=21.98	PredHel=1	Topology=i19-41o\n',NULL,NULL,NULL,NULL,NULL),(223044,'TMHMM Prediction',NULL,20322,NULL,'20322|NETO2_HUMAN	len=525	ExpAA=28.46	First60=6.27	PredHel=1	Topology=o346-368i\n',NULL,NULL,NULL,NULL,NULL),(223045,'TMHMM Prediction',NULL,20323,NULL,'20323|NFIP1_HUMAN	len=221	ExpAA=63.67	First60=0.00	PredHel=3	Topology=o117-139i146-168o178-197i\n',NULL,NULL,NULL,NULL,NULL),(223046,'TMHMM Prediction',NULL,20325,NULL,'20325|NEMP2_HUMAN	len=417	ExpAA=113.32	First60=3.75	PredHel=5	Topology=i154-171o176-198i205-224o239-256i277-299o\n',NULL,NULL,NULL,NULL,NULL),(223047,'TMHMM Prediction',NULL,20330,NULL,'20330|MLF2_HUMAN	len=248	ExpAA=15.10	First60=0.35	PredHel=1	Topology=i61-83o\n',NULL,NULL,NULL,NULL,NULL),(223048,'TMHMM Prediction',NULL,20332,NULL,'20332|MK_HUMAN	len=143	ExpAA=16.53	First60=16.53	PredHel=1	Topology=o5-22i\n',NULL,NULL,NULL,NULL,NULL),(223049,'TMHMM Prediction',NULL,20336,NULL,'20336|O2AK2_HUMAN	len=335	ExpAA=153.66	First60=23.00	PredHel=7	Topology=o42-64i76-98o113-135i156-178o217-239i252-274o289-307i\n',NULL,NULL,NULL,NULL,NULL),(223050,'TMHMM Prediction',NULL,20359,NULL,'20359|PDPN_HUMAN	len=162	ExpAA=31.70	First60=8.80	PredHel=1	Topology=o130-152i\n',NULL,NULL,NULL,NULL,NULL),(223051,'TMHMM Prediction',NULL,20379,NULL,'20379|MXRA8_HUMAN	len=442	ExpAA=21.77	First60=0.15	PredHel=1	Topology=o341-363i\n',NULL,NULL,NULL,NULL,NULL),(223052,'TMHMM Prediction',NULL,20405,NULL,'20405|P3_HUMAN	len=477	ExpAA=171.52	First60=1.41	PredHel=7	Topology=i227-249o254-276i283-305o320-339i359-381o385-407i448-470o\n',NULL,NULL,NULL,NULL,NULL),(223053,'TMHMM Prediction',NULL,20408,NULL,'20408|MTR1B_HUMAN	len=362	ExpAA=159.95	First60=18.15	PredHel=7	Topology=o44-66i78-100o115-137i157-179o204-226i254-276o289-311i\n',NULL,NULL,NULL,NULL,NULL),(223054,'TMHMM Prediction',NULL,20409,NULL,'20409|MXRA7_HUMAN	len=204	ExpAA=21.00	First60=21.00	PredHel=1	Topology=i7-26o\n',NULL,NULL,NULL,NULL,NULL),(223055,'IMPC Status',NULL,15827,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223056,'IMPC Clones',NULL,15827,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223057,'IMPC Status',NULL,15784,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223058,'IMPC Clones',NULL,15784,NULL,'10 Knockout First  Tm1a | 7 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223059,'IMPC Status',NULL,15766,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223060,'IMPC Clones',NULL,15766,NULL,'3 Knockout First  Tm1a | 5 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223061,'IMPC Status',NULL,15832,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223062,'IMPC Clones',NULL,15832,NULL,'42 Knockout First  Tm1a | 28 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223063,'IMPC Status',NULL,15833,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223064,'IMPC Status',NULL,15908,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223065,'IMPC Clones',NULL,15908,NULL,'55 Knockout First  Tm1a | 16 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223066,'IMPC Status',NULL,15921,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223067,'IMPC Clones',NULL,15921,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 1 Deletion',NULL,NULL,NULL,NULL,NULL),(223068,'IMPC Status',NULL,15865,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223069,'IMPC Clones',NULL,15865,NULL,'4 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223070,'IMPC Status',NULL,15866,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223071,'IMPC Clones',NULL,15866,NULL,'3 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223072,'IMPC Status',NULL,15789,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223073,'IMPC Status',NULL,15765,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223074,'IMPC Clones',NULL,15765,NULL,'6 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223075,'IMPC Status',NULL,15947,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223076,'IMPC Clones',NULL,15947,NULL,'12 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223077,'IMPC Status',NULL,15804,NULL,'Aborted   Es Cell Qc Failed',NULL,NULL,NULL,NULL,NULL),(223078,'IMPC Clones',NULL,15804,NULL,'7 Knockout First  Tm1a | 3 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223079,'IMPC Status',NULL,15897,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223080,'IMPC Clones',NULL,15897,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223081,'IMPC Status',NULL,16100,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223082,'IMPC Clones',NULL,16100,NULL,'5 Knockout First  Tm1a | 12 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223083,'IMPC Status',NULL,16039,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223084,'IMPC Clones',NULL,16039,NULL,'38 Knockout First  Tm1a | 5 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223085,'IMPC Status',NULL,15925,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223086,'IMPC Clones',NULL,15925,NULL,'6 Knockout First  Tm1a | 24 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223087,'IMPC Status',NULL,15902,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223088,'IMPC Status',NULL,15890,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223089,'IMPC Clones',NULL,15890,NULL,'17 Knockout First  Tm1a | 11 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223090,'IMPC Status',NULL,16814,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223091,'IMPC Clones',NULL,16814,NULL,'19 Knockout First  Tm1a | 11 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223092,'IMPC Status',NULL,16815,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223093,'IMPC Clones',NULL,16815,NULL,'3 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223094,'IMPC Status',NULL,14150,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223095,'IMPC Clones',NULL,14150,NULL,'16 Knockout First  Tm1a | 3 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223096,'IMPC Status',NULL,14033,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223097,'IMPC Clones',NULL,14033,NULL,'9 Knockout First  Tm1a | 5 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223098,'IMPC Status',NULL,13299,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223099,'IMPC Clones',NULL,13299,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223100,'IMPC Status',NULL,13449,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223101,'IMPC Clones',NULL,13449,NULL,'0 Knockout First  Tm1a | 16 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223102,'IMPC Status',NULL,13167,NULL,'Micro Injection In Progress',NULL,NULL,NULL,NULL,NULL),(223103,'IMPC Clones',NULL,13167,NULL,'8 Knockout First  Tm1a | 4 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223104,'IMPC Status',NULL,13356,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223105,'IMPC Clones',NULL,13356,NULL,'6 Knockout First  Tm1a | 4 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223106,'IMPC Status',NULL,13300,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223107,'IMPC Clones',NULL,13300,NULL,'1 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223108,'IMPC Status',NULL,13217,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223109,'IMPC Clones',NULL,13217,NULL,'1 Knockout First  Tm1a | 14 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223110,'IMPC Status',NULL,13126,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223111,'IMPC Clones',NULL,13126,NULL,'10 Knockout First  Tm1a | 2 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223112,'IMPC Status',NULL,13402,NULL,'Founder Obtained',NULL,NULL,NULL,NULL,NULL),(223113,'IMPC Clones',NULL,13402,NULL,'3 Knockout First  Tm1a | 19 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223114,'IMPC Status',NULL,12951,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223115,'IMPC Clones',NULL,12951,NULL,'1 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223116,'IMPC Status',NULL,2363,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223117,'IMPC Clones',NULL,2363,NULL,'6 Knockout First  Tm1a | 16 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223118,'IMPC Status',NULL,2919,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223119,'IMPC Clones',NULL,2919,NULL,'6 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223120,'IMPC Status',NULL,2539,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223121,'IMPC Clones',NULL,2539,NULL,'1 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223122,'IMPC Status',NULL,2409,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223123,'IMPC Clones',NULL,2409,NULL,'22 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223124,'IMPC Status',NULL,13051,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223125,'IMPC Clones',NULL,13051,NULL,'7 Knockout First  Tm1a | 23 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223126,'IMPC Status',NULL,13171,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223127,'IMPC Clones',NULL,13171,NULL,'33 Knockout First  Tm1a | 36 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223128,'IMPC Status',NULL,13033,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223129,'IMPC Clones',NULL,13033,NULL,'21 Knockout First  Tm1a | 9 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223130,'IMPC Status',NULL,6949,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223131,'IMPC Clones',NULL,6949,NULL,'2 Knockout First  Tm1a | 11 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223132,'IMPC Status',NULL,6951,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223133,'IMPC Clones',NULL,6951,NULL,'12 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223134,'IMPC Status',NULL,17773,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223135,'IMPC Clones',NULL,17773,NULL,'16 Knockout First  Tm1a | 12 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223136,'IMPC Status',NULL,13436,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223137,'IMPC Clones',NULL,13436,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 9 Deletion',NULL,NULL,NULL,NULL,NULL),(223138,'IMPC Status',NULL,430,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223139,'IMPC Clones',NULL,430,NULL,'12 Knockout First  Tm1a | 11 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223140,'IMPC Status',NULL,81,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223141,'IMPC Clones',NULL,81,NULL,'13 Knockout First  Tm1a | 9 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223142,'IMPC Status',NULL,19676,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223143,'IMPC Clones',NULL,19676,NULL,'18 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223144,'IMPC Status',NULL,19677,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223145,'IMPC Clones',NULL,19677,NULL,'0 Knockout First  Tm1a | 18 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223146,'IMPC Status',NULL,2499,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223147,'IMPC Clones',NULL,2499,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 1 Deletion',NULL,NULL,NULL,NULL,NULL),(223148,'IMPC Status',NULL,2319,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223149,'IMPC Clones',NULL,2319,NULL,'8 Knockout First  Tm1a | 8 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223150,'IMPC Status',NULL,2498,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223151,'IMPC Clones',NULL,2498,NULL,'4 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223152,'IMPC Status',NULL,14040,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223153,'IMPC Clones',NULL,14040,NULL,'3 Knockout First  Tm1a | 4 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223154,'IMPC Status',NULL,2839,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223155,'IMPC Clones',NULL,2839,NULL,'2 Knockout First  Tm1a | 9 Targeted Trap | 29 Deletion',NULL,NULL,NULL,NULL,NULL),(223156,'IMPC Status',NULL,2383,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223157,'IMPC Clones',NULL,2383,NULL,'7 Knockout First  Tm1a | 7 Targeted Trap | 1 Deletion',NULL,NULL,NULL,NULL,NULL),(223158,'IMPC Status',NULL,2545,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223159,'IMPC Clones',NULL,2545,NULL,'7 Knockout First  Tm1a | 9 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223160,'IMPC Status',NULL,657,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223161,'IMPC Clones',NULL,657,NULL,'7 Knockout First  Tm1a | 20 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223162,'IMPC Status',NULL,2273,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223163,'IMPC Clones',NULL,2273,NULL,'0 Knockout First  Tm1a | 4 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223164,'IMPC Status',NULL,2274,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223165,'IMPC Clones',NULL,2274,NULL,'2 Knockout First  Tm1a | 0 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223166,'IMPC Status',NULL,171,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223167,'IMPC Clones',NULL,171,NULL,'7 Knockout First  Tm1a | 1 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223168,'IMPC Status',NULL,15312,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223169,'IMPC Clones',NULL,15312,NULL,'10 Knockout First  Tm1a | 6 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223170,'IMPC Status',NULL,15311,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223171,'IMPC Clones',NULL,15311,NULL,'6 Knockout First  Tm1a | 0 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223172,'IMPC Status',NULL,15677,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223173,'IMPC Status',NULL,15354,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223174,'IMPC Clones',NULL,15354,NULL,'25 Knockout First  Tm1a | 5 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223175,'IMPC Status',NULL,15678,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223176,'IMPC Clones',NULL,15678,NULL,'0 Knockout First  Tm1a | 1 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223177,'IMPC Status',NULL,15382,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223178,'IMPC Clones',NULL,15382,NULL,'13 Knockout First  Tm1a | 15 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223179,'IMPC Status',NULL,15266,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223180,'IMPC Clones',NULL,15266,NULL,'4 Knockout First  Tm1a | 8 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223181,'IMPC Status',NULL,15307,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223182,'IMPC Clones',NULL,15307,NULL,'10 Knockout First  Tm1a | 12 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223183,'IMPC Status',NULL,16885,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223184,'IMPC Clones',NULL,16885,NULL,'9 Knockout First  Tm1a | 3 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223185,'IMPC Status',NULL,17005,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223186,'IMPC Clones',NULL,17005,NULL,'18 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223187,'IMPC Status',NULL,16896,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223188,'IMPC Status',NULL,17006,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223189,'IMPC Clones',NULL,17006,NULL,'2 Knockout First  Tm1a | 14 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223190,'IMPC Status',NULL,16890,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223191,'IMPC Clones',NULL,16890,NULL,'2 Knockout First  Tm1a | 14 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223192,'IMPC Status',NULL,17024,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223193,'IMPC Clones',NULL,17024,NULL,'9 Knockout First  Tm1a | 13 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223194,'IMPC Status',NULL,16842,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223195,'IMPC Clones',NULL,16842,NULL,'36 Knockout First  Tm1a | 11 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223196,'IMPC Status',NULL,17026,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223197,'IMPC Clones',NULL,17026,NULL,'1 Knockout First  Tm1a | 4 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223198,'IMPC Status',NULL,16915,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223199,'IMPC Clones',NULL,16915,NULL,'9 Knockout First  Tm1a | 8 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223200,'IMPC Status',NULL,17029,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223201,'IMPC Clones',NULL,17029,NULL,'4 Knockout First  Tm1a | 4 Targeted Trap | 2 Deletion',NULL,NULL,NULL,NULL,NULL),(223202,'IMPC Status',NULL,197,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223203,'IMPC Clones',NULL,197,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 8 Deletion',NULL,NULL,NULL,NULL,NULL),(223204,'IMPC Status',NULL,19207,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223205,'IMPC Clones',NULL,19207,NULL,'7 Knockout First  Tm1a | 0 Targeted Trap | 8 Deletion',NULL,NULL,NULL,NULL,NULL),(223206,'IMPC Status',NULL,6942,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223207,'IMPC Clones',NULL,6942,NULL,'7 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223208,'IMPC Status',NULL,7018,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223209,'IMPC Clones',NULL,7018,NULL,'19 Knockout First  Tm1a | 3 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223210,'IMPC Status',NULL,1971,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223211,'IMPC Clones',NULL,1971,NULL,'3 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223212,'IMPC Status',NULL,2612,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223213,'IMPC Clones',NULL,2612,NULL,'2 Knockout First  Tm1a | 9 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223214,'IMPC Status',NULL,1104,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223215,'IMPC Clones',NULL,1104,NULL,'4 Knockout First  Tm1a | 3 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223216,'IMPC Status',NULL,1107,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223217,'IMPC Clones',NULL,1107,NULL,'0 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223218,'IMPC Status',NULL,1108,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223219,'IMPC Clones',NULL,1108,NULL,'17 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223220,'IMPC Status',NULL,1109,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223221,'IMPC Clones',NULL,1109,NULL,'5 Knockout First  Tm1a | 3 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223222,'IMPC Status',NULL,17491,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223223,'IMPC Clones',NULL,17491,NULL,'3 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223224,'IMPC Status',NULL,6601,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223225,'IMPC Clones',NULL,6601,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223226,'IMPC Status',NULL,6662,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223227,'IMPC Clones',NULL,6662,NULL,'56 Knockout First  Tm1a | 28 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223228,'IMPC Status',NULL,5880,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223229,'IMPC Clones',NULL,5880,NULL,'7 Knockout First  Tm1a | 6 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223230,'IMPC Status',NULL,6441,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223231,'IMPC Clones',NULL,6441,NULL,'4 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223232,'IMPC Status',NULL,1313,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223233,'IMPC Clones',NULL,1313,NULL,'6 Knockout First  Tm1a | 0 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223234,'IMPC Status',NULL,2776,NULL,'Founder Obtained',NULL,NULL,NULL,NULL,NULL),(223235,'IMPC Clones',NULL,2776,NULL,'3 Knockout First  Tm1a | 3 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223236,'IMPC Status',NULL,1315,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223237,'IMPC Clones',NULL,1315,NULL,'6 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223238,'IMPC Status',NULL,1282,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223239,'IMPC Clones',NULL,1282,NULL,'1 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223240,'IMPC Status',NULL,1036,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223241,'IMPC Clones',NULL,1036,NULL,'5 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223242,'IMPC Status',NULL,1320,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223243,'IMPC Clones',NULL,1320,NULL,'1 Knockout First  Tm1a | 0 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223244,'IMPC Status',NULL,1000,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223245,'IMPC Clones',NULL,1000,NULL,'1 Knockout First  Tm1a | 2 Targeted Trap | 28 Deletion',NULL,NULL,NULL,NULL,NULL),(223246,'IMPC Status',NULL,18148,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223247,'IMPC Clones',NULL,18148,NULL,'0 Knockout First  Tm1a | 1 Targeted Trap | 2 Deletion',NULL,NULL,NULL,NULL,NULL),(223248,'IMPC Status',NULL,18065,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223249,'IMPC Clones',NULL,18065,NULL,'2 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223250,'IMPC Status',NULL,17829,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223251,'IMPC Clones',NULL,17829,NULL,'4 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223252,'IMPC Status',NULL,18066,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223253,'IMPC Status',NULL,17896,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223254,'IMPC Clones',NULL,17896,NULL,'7 Knockout First  Tm1a | 11 Targeted Trap | 2 Deletion',NULL,NULL,NULL,NULL,NULL),(223255,'IMPC Status',NULL,607,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223256,'IMPC Status',NULL,17856,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223257,'IMPC Status',NULL,5881,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223258,'IMPC Clones',NULL,5881,NULL,'5 Knockout First  Tm1a | 11 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223259,'IMPC Status',NULL,17419,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223260,'IMPC Clones',NULL,17419,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223261,'IMPC Status',NULL,17420,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223262,'IMPC Clones',NULL,17420,NULL,'7 Knockout First  Tm1a | 32 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223263,'IMPC Status',NULL,17858,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223264,'IMPC Clones',NULL,17858,NULL,'1 Knockout First  Tm1a | 3 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223265,'IMPC Status',NULL,17421,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223266,'IMPC Clones',NULL,17421,NULL,'12 Knockout First  Tm1a | 22 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223267,'IMPC Status',NULL,17903,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223268,'IMPC Clones',NULL,17903,NULL,'4 Knockout First  Tm1a | 0 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223269,'IMPC Status',NULL,17861,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223270,'IMPC Clones',NULL,17861,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223271,'IMPC Status',NULL,17425,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223272,'IMPC Clones',NULL,17425,NULL,'12 Knockout First  Tm1a | 0 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223273,'IMPC Status',NULL,17862,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223274,'IMPC Clones',NULL,17862,NULL,'4 Knockout First  Tm1a | 5 Targeted Trap | 2 Deletion',NULL,NULL,NULL,NULL,NULL),(223275,'IMPC Status',NULL,17428,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223276,'IMPC Clones',NULL,17428,NULL,'4 Knockout First  Tm1a | 13 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223277,'IMPC Status',NULL,17865,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223278,'IMPC Clones',NULL,17865,NULL,'10 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223279,'IMPC Status',NULL,17431,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223280,'IMPC Clones',NULL,17431,NULL,'14 Knockout First  Tm1a | 12 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223281,'IMPC Status',NULL,17857,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223282,'IMPC Clones',NULL,17857,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223283,'IMPC Status',NULL,17860,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223284,'IMPC Clones',NULL,17860,NULL,'2 Knockout First  Tm1a | 3 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223285,'IMPC Status',NULL,17422,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223286,'IMPC Status',NULL,17423,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223287,'IMPC Clones',NULL,17423,NULL,'0 Knockout First  Tm1a | 4 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223288,'IMPC Status',NULL,609,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223289,'IMPC Clones',NULL,609,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 7 Deletion',NULL,NULL,NULL,NULL,NULL),(223290,'IMPC Status',NULL,738,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223291,'IMPC Clones',NULL,738,NULL,'15 Knockout First  Tm1a | 11 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223292,'IMPC Status',NULL,809,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223293,'IMPC Clones',NULL,809,NULL,'8 Knockout First  Tm1a | 10 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223294,'IMPC Status',NULL,611,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223295,'IMPC Clones',NULL,611,NULL,'13 Knockout First  Tm1a | 20 Targeted Trap | 19 Deletion',NULL,NULL,NULL,NULL,NULL),(223296,'IMPC Status',NULL,740,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223297,'IMPC Clones',NULL,740,NULL,'7 Knockout First  Tm1a | 15 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223298,'IMPC Status',NULL,741,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223299,'IMPC Status',NULL,612,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223300,'IMPC Clones',NULL,612,NULL,'2 Knockout First  Tm1a | 0 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223301,'IMPC Status',NULL,811,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223302,'IMPC Status',NULL,743,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223303,'IMPC Clones',NULL,743,NULL,'1 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223304,'IMPC Status',NULL,745,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223305,'IMPC Clones',NULL,745,NULL,'19 Knockout First  Tm1a | 6 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223306,'IMPC Status',NULL,746,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223307,'IMPC Clones',NULL,746,NULL,'4 Knockout First  Tm1a | 2 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223308,'IMPC Status',NULL,747,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223309,'IMPC Status',NULL,816,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223310,'IMPC Clones',NULL,816,NULL,'3 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223311,'IMPC Status',NULL,749,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223312,'IMPC Clones',NULL,749,NULL,'5 Knockout First  Tm1a | 7 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223313,'IMPC Status',NULL,822,NULL,'Aborted   Es Cell Qc Failed',NULL,NULL,NULL,NULL,NULL),(223314,'IMPC Clones',NULL,822,NULL,'0 Knockout First  Tm1a | 32 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223315,'IMPC Status',NULL,819,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223316,'IMPC Status',NULL,820,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223317,'IMPC Clones',NULL,820,NULL,'0 Knockout First  Tm1a | 10 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223318,'IMPC Status',NULL,821,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223319,'IMPC Clones',NULL,821,NULL,'1 Knockout First  Tm1a | 1 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223320,'IMPC Status',NULL,823,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223321,'IMPC Clones',NULL,823,NULL,'9 Knockout First  Tm1a | 0 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223322,'IMPC Status',NULL,828,NULL,'Aborted   Es Cell Qc Failed',NULL,NULL,NULL,NULL,NULL),(223323,'IMPC Clones',NULL,828,NULL,'1 Knockout First  Tm1a | 2 Targeted Trap | 8 Deletion',NULL,NULL,NULL,NULL,NULL),(223324,'IMPC Status',NULL,829,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223325,'IMPC Clones',NULL,829,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223326,'IMPC Status',NULL,830,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223327,'IMPC Clones',NULL,830,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 15 Deletion',NULL,NULL,NULL,NULL,NULL),(223328,'IMPC Status',NULL,17592,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223329,'IMPC Clones',NULL,17592,NULL,'13 Knockout First  Tm1a | 1 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223330,'IMPC Status',NULL,17441,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223331,'IMPC Clones',NULL,17441,NULL,'13 Knockout First  Tm1a | 1 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223332,'IMPC Status',NULL,10194,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223333,'IMPC Clones',NULL,10194,NULL,'7 Knockout First  Tm1a | 34 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223334,'IMPC Status',NULL,17916,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223335,'IMPC Clones',NULL,17916,NULL,'7 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223336,'IMPC Status',NULL,17436,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223337,'IMPC Clones',NULL,17436,NULL,'11 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223338,'IMPC Status',NULL,17450,NULL,'Aborted   Es Cell Qc Failed',NULL,NULL,NULL,NULL,NULL),(223339,'IMPC Clones',NULL,17450,NULL,'14 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223340,'IMPC Status',NULL,17708,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223341,'IMPC Clones',NULL,17708,NULL,'17 Knockout First  Tm1a | 9 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223342,'IMPC Status',NULL,17616,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223343,'IMPC Clones',NULL,17616,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 1 Deletion',NULL,NULL,NULL,NULL,NULL),(223344,'IMPC Status',NULL,6116,NULL,'Rederivation Complete',NULL,NULL,NULL,NULL,NULL),(223345,'IMPC Status',NULL,6117,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223346,'IMPC Clones',NULL,6117,NULL,'4 Knockout First  Tm1a | 0 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223347,'IMPC Status',NULL,6050,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223348,'IMPC Clones',NULL,6050,NULL,'8 Knockout First  Tm1a | 33 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223349,'IMPC Status',NULL,16114,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223350,'IMPC Clones',NULL,16114,NULL,'1 Knockout First  Tm1a | 19 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223351,'IMPC Status',NULL,6981,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223352,'IMPC Clones',NULL,6981,NULL,'4 Knockout First  Tm1a | 8 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223353,'IMPC Status',NULL,5603,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223354,'IMPC Clones',NULL,5603,NULL,'10 Knockout First  Tm1a | 6 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223355,'IMPC Status',NULL,7076,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223356,'IMPC Clones',NULL,7076,NULL,'10 Knockout First  Tm1a | 15 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223357,'IMPC Status',NULL,7028,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223358,'IMPC Clones',NULL,7028,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223359,'IMPC Status',NULL,7029,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223360,'IMPC Clones',NULL,7029,NULL,'0 Knockout First  Tm1a | 2 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223361,'IMPC Status',NULL,6941,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223362,'IMPC Clones',NULL,6941,NULL,'1 Knockout First  Tm1a | 10 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223363,'IMPC Status',NULL,7017,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223364,'IMPC Clones',NULL,7017,NULL,'6 Knockout First  Tm1a | 1 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223365,'IMPC Status',NULL,19291,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223366,'IMPC Clones',NULL,19291,NULL,'7 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223367,'IMPC Status',NULL,19292,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223368,'IMPC Clones',NULL,19292,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223369,'IMPC Status',NULL,17751,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223370,'IMPC Status',NULL,17734,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223371,'IMPC Clones',NULL,17734,NULL,'14 Knockout First  Tm1a | 28 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223372,'IMPC Status',NULL,17735,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223373,'IMPC Clones',NULL,17735,NULL,'19 Knockout First  Tm1a | 0 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223374,'IMPC Status',NULL,17534,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223375,'IMPC Clones',NULL,17534,NULL,'8 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223376,'IMPC Status',NULL,17673,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223377,'IMPC Clones',NULL,17673,NULL,'0 Knockout First  Tm1a | 1 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223378,'IMPC Status',NULL,17535,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223379,'IMPC Clones',NULL,17535,NULL,'2 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223380,'IMPC Status',NULL,17597,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223381,'IMPC Status',NULL,19224,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223382,'IMPC Status',NULL,19226,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223383,'IMPC Clones',NULL,19226,NULL,'8 Knockout First  Tm1a | 4 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223384,'IMPC Status',NULL,7022,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223385,'IMPC Clones',NULL,7022,NULL,'13 Knockout First  Tm1a | 11 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223386,'IMPC Status',NULL,7023,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223387,'IMPC Clones',NULL,7023,NULL,'1 Knockout First  Tm1a | 4 Targeted Trap | 2 Deletion',NULL,NULL,NULL,NULL,NULL),(223388,'IMPC Status',NULL,17675,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223389,'IMPC Clones',NULL,17675,NULL,'4 Knockout First  Tm1a | 12 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223390,'IMPC Status',NULL,17982,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223391,'IMPC Clones',NULL,17982,NULL,'24 Knockout First  Tm1a | 6 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223392,'IMPC Status',NULL,17599,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223393,'IMPC Clones',NULL,17599,NULL,'17 Knockout First  Tm1a | 13 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223394,'IMPC Status',NULL,7033,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223395,'IMPC Clones',NULL,7033,NULL,'3 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223396,'IMPC Status',NULL,19233,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223397,'IMPC Status',NULL,17737,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223398,'IMPC Clones',NULL,17737,NULL,'8 Knockout First  Tm1a | 10 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223399,'IMPC Status',NULL,7038,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223400,'IMPC Clones',NULL,7038,NULL,'0 Knockout First  Tm1a | 38 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223401,'IMPC Status',NULL,19238,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223402,'IMPC Clones',NULL,19238,NULL,'2 Knockout First  Tm1a | 6 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223403,'IMPC Status',NULL,19239,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223404,'IMPC Clones',NULL,19239,NULL,'4 Knockout First  Tm1a | 3 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223405,'IMPC Status',NULL,19297,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223406,'IMPC Clones',NULL,19297,NULL,'4 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223407,'IMPC Status',NULL,12364,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223408,'IMPC Clones',NULL,12364,NULL,'2 Knockout First  Tm1a | 11 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223409,'IMPC Status',NULL,12295,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223410,'IMPC Clones',NULL,12295,NULL,'22 Knockout First  Tm1a | 30 Targeted Trap | 2 Deletion',NULL,NULL,NULL,NULL,NULL),(223411,'IMPC Status',NULL,12467,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223412,'IMPC Clones',NULL,12467,NULL,'7 Knockout First  Tm1a | 7 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223413,'IMPC Status',NULL,12468,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223414,'IMPC Status',NULL,12498,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223415,'IMPC Clones',NULL,12498,NULL,'6 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223416,'IMPC Status',NULL,12178,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223417,'IMPC Clones',NULL,12178,NULL,'1 Knockout First  Tm1a | 8 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223418,'IMPC Status',NULL,12100,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223419,'IMPC Clones',NULL,12100,NULL,'31 Knockout First  Tm1a | 8 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223420,'IMPC Status',NULL,12441,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223421,'IMPC Clones',NULL,12441,NULL,'12 Knockout First  Tm1a | 0 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223422,'IMPC Status',NULL,11366,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223423,'IMPC Clones',NULL,11366,NULL,'2 Knockout First  Tm1a | 36 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223424,'IMPC Status',NULL,19480,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223425,'IMPC Clones',NULL,19480,NULL,'9 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223426,'IMPC Status',NULL,12447,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223427,'IMPC Clones',NULL,12447,NULL,'12 Knockout First  Tm1a | 17 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223428,'IMPC Status',NULL,12585,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223429,'IMPC Clones',NULL,12585,NULL,'23 Knockout First  Tm1a | 8 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223430,'IMPC Status',NULL,11661,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223431,'IMPC Clones',NULL,11661,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 14 Deletion',NULL,NULL,NULL,NULL,NULL),(223432,'IMPC Status',NULL,11266,NULL,'Aborted   Es Cell Qc Failed',NULL,NULL,NULL,NULL,NULL),(223433,'IMPC Clones',NULL,11266,NULL,'4 Knockout First  Tm1a | 0 Targeted Trap | 28 Deletion',NULL,NULL,NULL,NULL,NULL),(223434,'IMPC Status',NULL,12784,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223435,'IMPC Clones',NULL,12784,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 8 Deletion',NULL,NULL,NULL,NULL,NULL),(223436,'IMPC Status',NULL,12668,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223437,'IMPC Clones',NULL,12668,NULL,'2 Knockout First  Tm1a | 10 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223438,'IMPC Status',NULL,12669,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223439,'IMPC Status',NULL,19858,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223440,'IMPC Clones',NULL,19858,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223441,'IMPC Status',NULL,11800,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223442,'IMPC Clones',NULL,11800,NULL,'6 Knockout First  Tm1a | 3 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223443,'IMPC Status',NULL,11801,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223444,'IMPC Clones',NULL,11801,NULL,'3 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223445,'IMPC Status',NULL,12331,NULL,'Micro Injection In Progress',NULL,NULL,NULL,NULL,NULL),(223446,'IMPC Clones',NULL,12331,NULL,'4 Knockout First  Tm1a | 1 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223447,'IMPC Status',NULL,12563,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223448,'IMPC Clones',NULL,12563,NULL,'1 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223449,'IMPC Status',NULL,12565,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223450,'IMPC Clones',NULL,12565,NULL,'5 Knockout First  Tm1a | 13 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223451,'IMPC Status',NULL,12333,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223452,'IMPC Clones',NULL,12333,NULL,'4 Knockout First  Tm1a | 10 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223453,'IMPC Status',NULL,19090,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223454,'IMPC Status',NULL,20045,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223455,'IMPC Status',NULL,19969,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223456,'IMPC Status',NULL,18864,NULL,'Founder Obtained',NULL,NULL,NULL,NULL,NULL),(223457,'IMPC Status',NULL,12871,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223458,'IMPC Clones',NULL,12871,NULL,'2 Knockout First  Tm1a | 16 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223459,'IMPC Status',NULL,19016,NULL,'Aborted   Es Cell Qc Failed',NULL,NULL,NULL,NULL,NULL),(223460,'IMPC Clones',NULL,19016,NULL,'3 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223461,'IMPC Status',NULL,18262,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223462,'IMPC Clones',NULL,18262,NULL,'11 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223463,'IMPC Status',NULL,18659,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223464,'IMPC Clones',NULL,18659,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 7 Deletion',NULL,NULL,NULL,NULL,NULL),(223465,'IMPC Status',NULL,18673,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223466,'IMPC Status',NULL,18248,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223467,'IMPC Clones',NULL,18248,NULL,'4 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223468,'IMPC Status',NULL,18214,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223469,'IMPC Clones',NULL,18214,NULL,'0 Knockout First  Tm1a | 12 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223470,'IMPC Status',NULL,18222,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223471,'IMPC Clones',NULL,18222,NULL,'17 Knockout First  Tm1a | 10 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223472,'IMPC Status',NULL,10964,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223473,'IMPC Clones',NULL,10964,NULL,'11 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223474,'IMPC Status',NULL,18219,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223475,'IMPC Clones',NULL,18219,NULL,'7 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223476,'IMPC Status',NULL,10394,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223477,'IMPC Clones',NULL,10394,NULL,'9 Knockout First  Tm1a | 6 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223478,'IMPC Status',NULL,19534,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223479,'IMPC Clones',NULL,19534,NULL,'9 Knockout First  Tm1a | 1 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223480,'IMPC Status',NULL,10106,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223481,'IMPC Clones',NULL,10106,NULL,'3 Knockout First  Tm1a | 0 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223482,'IMPC Status',NULL,10230,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223483,'IMPC Clones',NULL,10230,NULL,'0 Knockout First  Tm1a | 4 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223484,'IMPC Status',NULL,10874,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223485,'IMPC Clones',NULL,10874,NULL,'16 Knockout First  Tm1a | 8 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223486,'IMPC Status',NULL,19628,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223487,'IMPC Clones',NULL,19628,NULL,'14 Knockout First  Tm1a | 8 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223488,'IMPC Status',NULL,20337,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223489,'IMPC Clones',NULL,20337,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223490,'IMPC Status',NULL,10153,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223491,'IMPC Clones',NULL,10153,NULL,'7 Knockout First  Tm1a | 13 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223492,'IMPC Status',NULL,10748,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223493,'IMPC Clones',NULL,10748,NULL,'9 Knockout First  Tm1a | 8 Targeted Trap | 8 Deletion',NULL,NULL,NULL,NULL,NULL),(223494,'IMPC Status',NULL,10111,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223495,'IMPC Clones',NULL,10111,NULL,'2 Knockout First  Tm1a | 3 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223496,'IMPC Status',NULL,10018,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223497,'IMPC Clones',NULL,10018,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 14 Deletion',NULL,NULL,NULL,NULL,NULL),(223498,'IMPC Status',NULL,10078,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223499,'IMPC Clones',NULL,10078,NULL,'15 Knockout First  Tm1a | 4 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223500,'IMPC Status',NULL,9810,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223501,'IMPC Status',NULL,9842,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223502,'IMPC Clones',NULL,9842,NULL,'16 Knockout First  Tm1a | 0 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223503,'IMPC Status',NULL,10754,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223504,'IMPC Status',NULL,10756,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223505,'IMPC Clones',NULL,10756,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223506,'IMPC Status',NULL,6947,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223507,'IMPC Clones',NULL,6947,NULL,'9 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223508,'IMPC Status',NULL,9485,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223509,'IMPC Clones',NULL,9485,NULL,'3 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223510,'IMPC Status',NULL,15626,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223511,'IMPC Clones',NULL,15626,NULL,'11 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223512,'IMPC Status',NULL,7008,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223513,'IMPC Clones',NULL,7008,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223514,'IMPC Status',NULL,15372,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223515,'IMPC Clones',NULL,15372,NULL,'5 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223516,'IMPC Status',NULL,19535,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223517,'IMPC Clones',NULL,19535,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223518,'IMPC Status',NULL,3948,NULL,'Rederivation Complete',NULL,NULL,NULL,NULL,NULL),(223519,'IMPC Status',NULL,9840,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223520,'IMPC Clones',NULL,9840,NULL,'13 Knockout First  Tm1a | 12 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223521,'IMPC Status',NULL,3725,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223522,'IMPC Clones',NULL,3725,NULL,'2 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223523,'IMPC Status',NULL,11217,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223524,'IMPC Clones',NULL,11217,NULL,'11 Knockout First  Tm1a | 13 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223525,'IMPC Status',NULL,3366,NULL,'Micro Injection In Progress',NULL,NULL,NULL,NULL,NULL),(223526,'IMPC Clones',NULL,3366,NULL,'10 Knockout First  Tm1a | 17 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223527,'IMPC Status',NULL,10620,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223528,'IMPC Clones',NULL,10620,NULL,'23 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223529,'IMPC Status',NULL,10277,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223530,'IMPC Status',NULL,4381,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223531,'IMPC Clones',NULL,4381,NULL,'11 Knockout First  Tm1a | 9 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223532,'IMPC Status',NULL,11356,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223533,'IMPC Clones',NULL,11356,NULL,'4 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223534,'IMPC Status',NULL,4779,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223535,'IMPC Clones',NULL,4779,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 6 Deletion',NULL,NULL,NULL,NULL,NULL),(223536,'IMPC Status',NULL,18264,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223537,'IMPC Clones',NULL,18264,NULL,'11 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223538,'IMPC Status',NULL,10623,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223539,'IMPC Status',NULL,10677,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223540,'IMPC Clones',NULL,10677,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223541,'IMPC Status',NULL,4254,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223542,'IMPC Clones',NULL,4254,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223543,'IMPC Status',NULL,4513,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223544,'IMPC Status',NULL,8218,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223545,'IMPC Status',NULL,8220,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223546,'IMPC Clones',NULL,8220,NULL,'9 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223547,'IMPC Status',NULL,8214,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223548,'IMPC Clones',NULL,8214,NULL,'0 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223549,'IMPC Status',NULL,8212,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223550,'IMPC Clones',NULL,8212,NULL,'21 Knockout First  Tm1a | 3 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223551,'IMPC Status',NULL,8487,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223552,'IMPC Clones',NULL,8487,NULL,'5 Knockout First  Tm1a | 3 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223553,'IMPC Status',NULL,8372,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223554,'IMPC Clones',NULL,8372,NULL,'47 Knockout First  Tm1a | 1 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223555,'IMPC Status',NULL,3592,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223556,'IMPC Clones',NULL,3592,NULL,'19 Knockout First  Tm1a | 2 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223557,'IMPC Status',NULL,4281,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223558,'IMPC Clones',NULL,4281,NULL,'11 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223559,'IMPC Status',NULL,5057,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223560,'IMPC Clones',NULL,5057,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223561,'IMPC Status',NULL,5034,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223562,'IMPC Clones',NULL,5034,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 22 Deletion',NULL,NULL,NULL,NULL,NULL),(223563,'IMPC Status',NULL,4847,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223564,'IMPC Clones',NULL,4847,NULL,'5 Knockout First  Tm1a | 13 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223565,'IMPC Status',NULL,16279,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223566,'IMPC Clones',NULL,16279,NULL,'12 Knockout First  Tm1a | 2 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223567,'IMPC Status',NULL,5094,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223568,'IMPC Status',NULL,5018,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223569,'IMPC Clones',NULL,5018,NULL,'4 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223570,'IMPC Status',NULL,5032,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223571,'IMPC Clones',NULL,5032,NULL,'9 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223572,'IMPC Status',NULL,5164,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223573,'IMPC Status',NULL,4833,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223574,'IMPC Clones',NULL,4833,NULL,'14 Knockout First  Tm1a | 5 Targeted Trap | 8 Deletion',NULL,NULL,NULL,NULL,NULL),(223575,'IMPC Status',NULL,5167,NULL,'Phenotyping Started',NULL,NULL,NULL,NULL,NULL),(223576,'IMPC Status',NULL,5171,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223577,'IMPC Clones',NULL,5171,NULL,'5 Knockout First  Tm1a | 1 Targeted Trap | 2 Deletion',NULL,NULL,NULL,NULL,NULL),(223578,'IMPC Status',NULL,5125,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223579,'IMPC Clones',NULL,5125,NULL,'7 Knockout First  Tm1a | 9 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223580,'IMPC Status',NULL,8718,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223581,'IMPC Clones',NULL,8718,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223582,'IMPC Status',NULL,8569,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223583,'IMPC Clones',NULL,8569,NULL,'5 Knockout First  Tm1a | 4 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223584,'IMPC Status',NULL,8563,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223585,'IMPC Status',NULL,8564,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223586,'IMPC Status',NULL,16427,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223587,'IMPC Status',NULL,8555,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223588,'IMPC Status',NULL,8547,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223589,'IMPC Clones',NULL,8547,NULL,'8 Knockout First  Tm1a | 10 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223590,'IMPC Status',NULL,8851,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223591,'IMPC Clones',NULL,8851,NULL,'6 Knockout First  Tm1a | 4 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223592,'IMPC Status',NULL,16728,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223593,'IMPC Clones',NULL,16728,NULL,'4 Knockout First  Tm1a | 6 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223594,'IMPC Status',NULL,17565,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223595,'IMPC Clones',NULL,17565,NULL,'4 Knockout First  Tm1a | 0 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223596,'IMPC Status',NULL,9056,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223597,'IMPC Clones',NULL,9056,NULL,'4 Knockout First  Tm1a | 12 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223598,'IMPC Status',NULL,7679,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223599,'IMPC Clones',NULL,7679,NULL,'0 Knockout First  Tm1a | 6 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223600,'IMPC Status',NULL,5186,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223601,'IMPC Clones',NULL,5186,NULL,'18 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223602,'IMPC Status',NULL,5187,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223603,'IMPC Clones',NULL,5187,NULL,'21 Knockout First  Tm1a | 7 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223604,'IMPC Status',NULL,9583,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223605,'IMPC Status',NULL,9231,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223606,'IMPC Clones',NULL,9231,NULL,'0 Knockout First  Tm1a | 23 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223607,'IMPC Status',NULL,9462,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223608,'IMPC Clones',NULL,9462,NULL,'15 Knockout First  Tm1a | 3 Targeted Trap | 5 Deletion',NULL,NULL,NULL,NULL,NULL),(223609,'IMPC Status',NULL,9671,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223610,'IMPC Clones',NULL,9671,NULL,'9 Knockout First  Tm1a | 7 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223611,'IMPC Status',NULL,16358,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223612,'IMPC Clones',NULL,16358,NULL,'5 Knockout First  Tm1a | 9 Targeted Trap | 3 Deletion',NULL,NULL,NULL,NULL,NULL),(223613,'IMPC Status',NULL,3766,NULL,'Assigned',NULL,NULL,NULL,NULL,NULL),(223614,'IMPC Clones',NULL,3766,NULL,'4 Knockout First  Tm1a | 7 Targeted Trap | 4 Deletion',NULL,NULL,NULL,NULL,NULL),(223615,'IMPC Status',NULL,9724,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223616,'IMPC Clones',NULL,9724,NULL,'9 Knockout First  Tm1a | 0 Targeted Trap | 10 Deletion',NULL,NULL,NULL,NULL,NULL),(223617,'IMPC Status',NULL,7591,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223618,'IMPC Clones',NULL,7591,NULL,'0 Knockout First  Tm1a | 0 Targeted Trap | 8 Deletion',NULL,NULL,NULL,NULL,NULL),(223619,'IMPC Status',NULL,7538,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223620,'IMPC Clones',NULL,7538,NULL,'20 Knockout First  Tm1a | 9 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223621,'IMPC Status',NULL,9613,NULL,'Phenotype Attempt Registered',NULL,NULL,NULL,NULL,NULL),(223622,'IMPC Clones',NULL,9613,NULL,'3 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223623,'IMPC Status',NULL,9634,NULL,'?',NULL,NULL,NULL,NULL,NULL),(223624,'IMPC Clones',NULL,9634,NULL,'10 Knockout First  Tm1a | 11 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223625,'IMPC Status',NULL,9743,NULL,'Micro Injection Aborted',NULL,NULL,NULL,NULL,NULL),(223626,'IMPC Clones',NULL,9743,NULL,'8 Knockout First  Tm1a | 13 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223627,'IMPC Status',NULL,15201,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223628,'IMPC Clones',NULL,15201,NULL,'26 Knockout First  Tm1a | 9 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223629,'IMPC Status',NULL,15202,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(223630,'IMPC Clones',NULL,15202,NULL,'22 Knockout First  Tm1a | 5 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223631,'IMPC Status',NULL,16492,NULL,'Genotype Confirmed',NULL,NULL,NULL,NULL,NULL),(223632,'IMPC Clones',NULL,16492,NULL,'4 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223633,'IMPC Status',NULL,14549,NULL,'Phenotype Attempt Aborted',NULL,NULL,NULL,NULL,NULL),(223634,'IMPC Clones',NULL,14549,NULL,'4 Knockout First  Tm1a | 0 Targeted Trap | 0 Deletion',NULL,NULL,NULL,NULL,NULL),(223635,'IMPC Status',NULL,14468,NULL,'Phenotyping Complete',NULL,NULL,NULL,NULL,NULL),(260663,'JensenLab PubMed Score',NULL,16939,NULL,NULL,36.796441,NULL,NULL,NULL,NULL),(260664,'JensenLab PubMed Score',NULL,12664,NULL,NULL,386.305483,NULL,NULL,NULL,NULL),(260665,'JensenLab PubMed Score',NULL,6495,NULL,NULL,492.263855,NULL,NULL,NULL,NULL),(260666,'JensenLab PubMed Score',NULL,2115,NULL,NULL,108.993470,NULL,NULL,NULL,NULL),(260667,'JensenLab PubMed Score',NULL,20056,NULL,NULL,4.758235,NULL,NULL,NULL,NULL),(260668,'JensenLab PubMed Score',NULL,5770,NULL,NULL,40.641020,NULL,NULL,NULL,NULL),(260669,'JensenLab PubMed Score',NULL,6766,NULL,NULL,48.644218,NULL,NULL,NULL,NULL),(260670,'JensenLab PubMed Score',NULL,8150,NULL,NULL,150.378054,NULL,NULL,NULL,NULL),(260671,'JensenLab PubMed Score',NULL,678,NULL,NULL,8818.846929,NULL,NULL,NULL,NULL),(260672,'JensenLab PubMed Score',NULL,1985,NULL,NULL,865.751689,NULL,NULL,NULL,NULL),(260673,'JensenLab PubMed Score',NULL,5256,NULL,NULL,45.837312,NULL,NULL,NULL,NULL),(260674,'JensenLab PubMed Score',NULL,79,NULL,NULL,48.093093,NULL,NULL,NULL,NULL),(260675,'JensenLab PubMed Score',NULL,10398,NULL,NULL,266.400667,NULL,NULL,NULL,NULL),(260676,'JensenLab PubMed Score',NULL,5424,NULL,NULL,98.083075,NULL,NULL,NULL,NULL),(260677,'JensenLab PubMed Score',NULL,10810,NULL,NULL,430.497673,NULL,NULL,NULL,NULL),(260678,'JensenLab PubMed Score',NULL,13358,NULL,NULL,20.738441,NULL,NULL,NULL,NULL),(260679,'JensenLab PubMed Score',NULL,12981,NULL,NULL,3.458033,NULL,NULL,NULL,NULL),(260680,'JensenLab PubMed Score',NULL,16473,NULL,NULL,4.159619,NULL,NULL,NULL,NULL),(260681,'JensenLab PubMed Score',NULL,1330,NULL,NULL,117.561473,NULL,NULL,NULL,NULL),(260682,'JensenLab PubMed Score',NULL,4790,NULL,NULL,52.633586,NULL,NULL,NULL,NULL),(260683,'JensenLab PubMed Score',NULL,9406,NULL,NULL,177.849625,NULL,NULL,NULL,NULL),(260684,'JensenLab PubMed 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